From 22bbd1fba09c3b20ab2d9d8875fe3cdf7a2d4764 Mon Sep 17 00:00:00 2001 From: Toyofumi Fujiwara Date: Tue, 23 Apr 2024 20:53:02 +0900 Subject: [PATCH] update some files --- Pipfile.lock | 114 +- bin/get_summary_from_mhlw.sh | 2 +- converter/utils/chain.py | 7 + results/nando.html | 149769 ++++++++++++++++++++++---------- results/nando.rdf | 40530 +++++---- results/nando.ttl | 45076 +++++----- 6 files changed, 156168 insertions(+), 79330 deletions(-) diff --git a/Pipfile.lock b/Pipfile.lock index cf8929c..a2e432d 100644 --- a/Pipfile.lock +++ b/Pipfile.lock @@ -1,7 +1,7 @@ { "_meta": { "hash": { - "sha256": "d24b5cba61c01e8656abdee40c6abfd6b89cb1723b516c91bbd4a03c5482d7d8" + "sha256": "10660b6ea4c88b242c549ec56673596e0a8309d5958cb9a0153969bce1011201" }, "pipfile-spec": 6, "requires": { @@ -21,7 +21,6 @@ "sha256:5b26757dc6f79a3b7dc9fab95359328d5747fcb2409d331ea66d0272b90ab2a0", "sha256:8b995ffe925347a2138d7ac0fe77155e4311a0ea6d6da4f5128fe4b3cbe5ed71" ], - "markers": "platform_system == 'Darwin'", "version": "==0.1.0" }, "attrs": { @@ -100,29 +99,36 @@ ], "version": "==3.0.4" }, + "click": { + "hashes": [ + "sha256:d2b5255c7c6349bc1bd1e59e08cd12acbbd63ce649f2588755783aa94dfb6b1a", + "sha256:dacca89f4bfadd5de3d7489b7c8a566eee0d3676333fbb50030263894c38c0dc" + ], + "version": "==7.1.2" + }, "cryptography": { "hashes": [ - "sha256:01706e83707767a6c73aec2905f7f01a6b0f28953274262c7257244e1b6e6b41", - "sha256:222dfaf1e5cd3ab9e6d3aa4c37488bfb011caba31d126d6f1bc978fbdef389ee", - "sha256:2692dac7048ae82c21b8dfc9a60fe735604e872cf29f40edcc71f2755727ba56", - "sha256:27cde10edf48282c1ad42a256dac706dca57ac84402e2b6fb35f398352bcba0a", - "sha256:30cef1ade2b01dcdb4a83e05ac8bddd8292328eeb2a27438c7b67305b9f1b7cb", - "sha256:43d0f9f30c4a479a1236aedaecf74acd9c4a16abeee1f0f5b95f7df70a96af7f", - "sha256:4627d7c68a7faf103dfcc55c4deacfdc64b8333f476360bc32a759211ac4c292", - "sha256:6da4eba9e4f13c67f2cf83d73d49e9978ae1bc4f7863cc8dd02cba4b2a20b6a1", - "sha256:6df59400467cf7ce96a4913dbd0f0048975a6c0c187c8b94da26a3779c930669", - "sha256:7928301d6a81823bc10f7aa84f9346d9535e9c33f402ce6781f40e1f6ec4f739", - "sha256:90ebd0f7b637c2e12fc6bb8043a1dd0aefbd6692b31b18e661cac7bd1c097934", - "sha256:91a9b087ef65243298d95f3b7633ed9181632810d66009c9c083e3f4f88adac2", - "sha256:ac2e5fab056394361721fb4df6687c36d6551ac3b7c28c8d0bc32e5e91e56bbf", - "sha256:ce0bd68b4b946bd4bcebc3d4d1325bf0e938e445ae18cedddd60e33dd85a368e", - "sha256:d6492f53b3d9ca8919a6e008502dc8f1e7bd914b1bc4617de28bdefca7025cfe", - "sha256:df831c2f4424c4be9f798d312ac857aadaceaeeb59485415db2b75ddcb35bf19", - "sha256:e6c1dcd2df58a049c3fb42ffb7fd4faa981f2e2c21a2b7f48c8b860f9f439bde", - "sha256:ed5abba023c90ec6a646da406dbe353faabcdae61b47744f9edc92128c132e73", - "sha256:faed463d561065ad4b48c253f238fc2c21dddafe122fc9d4355c56b6c96603c2" - ], - "version": "==2.9.1" + "sha256:091d31c42f444c6f519485ed528d8b451d1a0c7bf30e8ca583a0cac44b8a0df6", + "sha256:18452582a3c85b96014b45686af264563e3e5d99d226589f057ace56196ec78b", + "sha256:1dfa985f62b137909496e7fc182dac687206d8d089dd03eaeb28ae16eec8e7d5", + "sha256:1e4014639d3d73fbc5ceff206049c5a9a849cefd106a49fa7aaaa25cc0ce35cf", + "sha256:22e91636a51170df0ae4dcbd250d318fd28c9f491c4e50b625a49964b24fe46e", + "sha256:3b3eba865ea2754738616f87292b7f29448aec342a7c720956f8083d252bf28b", + "sha256:651448cd2e3a6bc2bb76c3663785133c40d5e1a8c1a9c5429e4354201c6024ae", + "sha256:726086c17f94747cedbee6efa77e99ae170caebeb1116353c6cf0ab67ea6829b", + "sha256:844a76bc04472e5135b909da6aed84360f522ff5dfa47f93e3dd2a0b84a89fa0", + "sha256:88c881dd5a147e08d1bdcf2315c04972381d026cdb803325c03fe2b4a8ed858b", + "sha256:96c080ae7118c10fcbe6229ab43eb8b090fccd31a09ef55f83f690d1ef619a1d", + "sha256:a0c30272fb4ddda5f5ffc1089d7405b7a71b0b0f51993cb4e5dbb4590b2fc229", + "sha256:bb1f0281887d89617b4c68e8db9a2c42b9efebf2702a3c5bf70599421a8623e3", + "sha256:c447cf087cf2dbddc1add6987bbe2f767ed5317adb2d08af940db517dd704365", + "sha256:c4fd17d92e9d55b84707f4fd09992081ba872d1a0c610c109c18e062e06a2e55", + "sha256:d0d5aeaedd29be304848f1c5059074a740fa9f6f26b84c5b63e8b29e73dfc270", + "sha256:daf54a4b07d67ad437ff239c8a4080cfd1cc7213df57d33c97de7b4738048d5e", + "sha256:e993468c859d084d5579e2ebee101de8f5a27ce8e2159959b6673b418fd8c785", + "sha256:f118a95c7480f5be0df8afeb9a11bd199aa20afab7a96bcf20409b411a3a85f0" + ], + "version": "==2.9.2" }, "decorator": { "hashes": [ @@ -202,6 +208,13 @@ ], "version": "==7.5.1" }, + "isodate": { + "hashes": [ + "sha256:2e364a3d5759479cdb2d37cce6b9376ea504db2ff90252a2e5b7cc89cc9ff2d8", + "sha256:aa4d33c06640f5352aca96e4b81afd8ab3b47337cc12089822d6f322ac772c81" + ], + "version": "==0.6.0" + }, "jaconv": { "hashes": [ "sha256:2ccdf768da20d55f30e8801e5e2e27783aae1bb29b890e503e1124134d6d09c9" @@ -230,6 +243,13 @@ ], "version": "==2.11.1" }, + "joblib": { + "hashes": [ + "sha256:61e49189c84b3c5d99a969d314853f4d1d263316cc694bec17548ebaa9c47b6e", + "sha256:6825784ffda353cc8a1be573118085789e5b5d29401856b35b756645ab5aecb5" + ], + "version": "==0.15.1" + }, "jsonschema": { "hashes": [ "sha256:4e5b3cf8216f577bee9ce139cbe72eca3ea4f292ec60928ff24758ce626cd163", @@ -332,6 +352,13 @@ ], "version": "==5.0.4" }, + "nltk": { + "hashes": [ + "sha256:845365449cd8c5f9731f7cb9f8bd6fd0767553b9d53af9eb1b3abf7700936b35" + ], + "index": "pypi", + "version": "==3.5" + }, "notebook": { "hashes": [ "sha256:3edc616c684214292994a3af05eaea4cc043f6b4247d830f3a2f209fa7639a80", @@ -433,6 +460,13 @@ "index": "pypi", "version": "==0.0.11" }, + "pyparsing": { + "hashes": [ + "sha256:c203ec8783bf771a155b207279b9bccb8dea02d8f0c9e5f8ead507bc3246ecc1", + "sha256:ef9d7589ef3c200abe66653d3f1ab1033c3c419ae9b9bdb1240a85b024efc88b" + ], + "version": "==2.4.7" + }, "pyrsistent": { "hashes": [ "sha256:cdc7b5e3ed77bed61270a47d35434a30617b9becdf2478af76ad2c6ade307280" @@ -503,6 +537,14 @@ ], "version": "==4.6.0" }, + "rdflib": { + "hashes": [ + "sha256:78149dd49d385efec3b3adfbd61c87afaf1281c30d3fcaf1b323b34f603fb155", + "sha256:88208ea971a87886d60ae2b1a4b2cdc263527af0454c422118d43fe64b357877" + ], + "index": "pypi", + "version": "==5.0.0" + }, "readme-renderer": { "hashes": [ "sha256:bb16f55b259f27f75f640acf5e00cf897845a8b3e4731b5c1a436e4b8529202f", @@ -510,6 +552,32 @@ ], "version": "==24.0" }, + "regex": { + "hashes": [ + "sha256:08997a37b221a3e27d68ffb601e45abfb0093d39ee770e4257bd2f5115e8cb0a", + "sha256:112e34adf95e45158c597feea65d06a8124898bdeac975c9087fe71b572bd938", + "sha256:1700419d8a18c26ff396b3b06ace315b5f2a6e780dad387e4c48717a12a22c29", + "sha256:2f6f211633ee8d3f7706953e9d3edc7ce63a1d6aad0be5dcee1ece127eea13ae", + "sha256:52e1b4bef02f4040b2fd547357a170fc1146e60ab310cdbdd098db86e929b387", + "sha256:55b4c25cbb3b29f8d5e63aeed27b49fa0f8476b0d4e1b3171d85db891938cc3a", + "sha256:5aaa5928b039ae440d775acea11d01e42ff26e1561c0ffcd3d805750973c6baf", + "sha256:654cb773b2792e50151f0e22be0f2b6e1c3a04c5328ff1d9d59c0398d37ef610", + "sha256:690f858d9a94d903cf5cada62ce069b5d93b313d7d05456dbcd99420856562d9", + "sha256:6ad8663c17db4c5ef438141f99e291c4d4edfeaacc0ce28b5bba2b0bf273d9b5", + "sha256:89cda1a5d3e33ec9e231ece7307afc101b5217523d55ef4dc7fb2abd6de71ba3", + "sha256:92d8a043a4241a710c1cf7593f5577fbb832cf6c3a00ff3fc1ff2052aff5dd89", + "sha256:95fa7726d073c87141f7bbfb04c284901f8328e2d430eeb71b8ffdd5742a5ded", + "sha256:97712e0d0af05febd8ab63d2ef0ab2d0cd9deddf4476f7aa153f76feef4b2754", + "sha256:b2ba0f78b3ef375114856cbdaa30559914d081c416b431f2437f83ce4f8b7f2f", + "sha256:bae83f2a56ab30d5353b47f9b2a33e4aac4de9401fb582b55c42b132a8ac3868", + "sha256:c78e66a922de1c95a208e4ec02e2e5cf0bb83a36ceececc10a72841e53fbf2bd", + "sha256:cf59bbf282b627130f5ba68b7fa3abdb96372b24b66bdf72a4920e8153fc7910", + "sha256:e3cdc9423808f7e1bb9c2e0bdb1c9dc37b0607b30d646ff6faf0d4e41ee8fee3", + "sha256:e9b64e609d37438f7d6e68c2546d2cb8062f3adb27e6336bc129b51be20773ac", + "sha256:fbff901c54c22425a5b809b914a3bfaf4b9570eee0e5ce8186ac71eb2025191c" + ], + "version": "==2020.6.8" + }, "requests": { "hashes": [ "sha256:43999036bfa82904b6af1d99e4882b560e5e2c68e5c4b0aa03b655f3d7d73fee", diff --git a/bin/get_summary_from_mhlw.sh b/bin/get_summary_from_mhlw.sh index 4acc044..23c1b62 100644 --- a/bin/get_summary_from_mhlw.sh +++ b/bin/get_summary_from_mhlw.sh @@ -59,4 +59,4 @@ sed -e 's/https\:\/\/www\.mhlw\.go\.jp\/file\/06\-Seisakujouhou\-10900000\-Kenko ## python-docx 0.8.10 ## setuptools 46.0.0 ## wheel 0.34.2 -cat ${outdir}/1_333.num.docx.tsv |while read line; do export IFS=$'\t'; set -- ${line}; echo -ne "$1\t$2\t"; python ./retrieve_txt_from_mhlw_docx.py ${outdir_docx}/$2; echo ""; done > ${outdir}/1_333.num.summary.tsv +cat ${outdir}/1_333.num.docx.tsv |while read line; do export IFS=$'\t'; set -- ${line}; echo -ne "$1\t$2\t"; python ./bin/retrieve_txt_from_mhlw_docx.py ${outdir_docx}/$2; echo ""; done > ${outdir}/1_333.num.summary.tsv diff --git a/converter/utils/chain.py b/converter/utils/chain.py index aa10efe..c933188 100644 --- a/converter/utils/chain.py +++ b/converter/utils/chain.py @@ -4,6 +4,8 @@ from cnorm.chain import Chain from cnorm.rule import Rule, Greek2Alpha, Lower +from nltk.corpus import stopwords + class RemovePatterns(Rule): def __init__(self, patterns: List[Union[str, re.Pattern]]): @@ -109,6 +111,11 @@ def apply(self, text: str): re.compile('^by$'), re.compile('^and$'), ] +#stop_words = [] +#stop_words_original = ['types', 'type', 'diseases', 'disease', 'syndromes', 'syndrome', 'disorders', 'disorder'] +#stop_words_original_nltk = stop_words_original + stopwords.words('english') +#for word in stop_words_original_nltk: +# stop_words.append(re.compile(r'^{0}$'.format(word))) rule_remove_stop_words = RemovePatterns(stop_words) re_alunum = [re.compile('\W+')] diff --git a/results/nando.html b/results/nando.html index 5106331..f99e22c 100644 --- a/results/nando.html +++ b/results/nando.html @@ -114,2370 +114,2753 @@ Classes ( - 2348 + 2731 ) - + Properties ( - 1 + 2 ) Object properties ( - 0 + 1 ) - + @@ -2485,7 +2868,7 @@ 1 ) - + @@ -2512,6 +2895,11 @@

+ + dc:creator +Atsuo Kikuchi + + dc:creator Hiroshi Masuya @@ -2542,6 +2930,11 @@

Soichi Ogishima + + dc:creator +Tatsuya Kushida + + dc:creator Terue Takatsuki @@ -2565,7 +2958,7 @@

dcterms:created - "2020-11-11T11:00:00" + "2021-7-23T00:00:00" xsd:dateTime @@ -2579,7 +2972,7 @@

dcterms:modified - "2020-11-11T11:00:00" + "2021-8-05T00:00:00" xsd:dateTime @@ -2587,13 +2980,13 @@

owl:versionIRI -http://nanbyodata.jp/version0.4.3 +http://nanbyodata.jp/version1.0.1 owl:versionInfo - "0.4.3" + "1.0.0" xsd:string @@ -2606,8 +2999,8 @@

- - + - + + + + +
http://nanbyodata.jp/ontology/nando#0000001 +
http://nanbyodata.jp/ontology/NANDO_0000001 (rdf:type owl:Class @@ -2617,16 +3010,23 @@

dcterms:identifier0000001NANDO:0000001
rdfs:label - "intractable disease" + "Intractable disease" @en
+ rdfs:label + "ใชใ‚“ใณใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -2649,8 +3049,8 @@

- - + + @ja - + + + + + + @ja
http://nanbyodata.jp/ontology/nando#0000002 +
http://nanbyodata.jp/ontology/NANDO_0000002 (rdf:type owl:Class @@ -2662,21 +3062,28 @@

dcterms:description

"NANDO number no more in use." - @en
dcterms:identifier0000002NANDO:0000002
rdfs:label - "obsolete class" + "Obsolete class" @en
+ rdfs:label + "obsolete class" + @ja
rdfs:subClassOf @@ -2687,13 +3094,13 @@

skos:prefLabel

 "obsolete class" - @en
- - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1000001 +
http://nanbyodata.jp/ontology/NANDO_1000001 (rdf:type owl:Class @@ -2703,16 +3110,23 @@

dcterms:identifier1000001NANDO:1000001
rdfs:label - "designated intractable disease" + "Designated intractable disease" @en
+ rdfs:label + "ใ—ใฆใ„ใชใ‚“ใณใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -2722,7 +3136,7 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#0000001http://nanbyodata.jp/ontology/NANDO_0000001
@@ -2734,8 +3148,8 @@

- - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100001 +
http://nanbyodata.jp/ontology/NANDO_1100001 (rdf:type owl:Class @@ -2745,7 +3159,7 @@

dcterms:identifier1100001NANDO:1100001
@@ -2755,6 +3169,13 @@

@en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -2762,9 +3183,19 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2100214
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019056
@@ -2776,8 +3207,8 @@

- - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1100002 +
http://nanbyodata.jp/ontology/NANDO_1100002 (rdf:type owl:Class @@ -2787,7 +3218,7 @@

dcterms:identifier1100002NANDO:1100002
@@ -2797,6 +3228,13 @@

@en
+ rdfs:label + "ใŸใ„ใ—ใ‚ƒใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -2806,7 +3244,17 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004955
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005066
@@ -2818,8 +3266,8 @@

- - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1100003 +
http://nanbyodata.jp/ontology/NANDO_1100003 (rdf:type owl:Class @@ -2829,7 +3277,7 @@

dcterms:identifier1100003NANDO:1100003
@@ -2839,6 +3287,13 @@

@en
+ rdfs:label + "ใฒใตใƒปใ‘ใคใ”ใ†ใใ—ใใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -2846,9 +3301,14 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2100155
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
@@ -2860,8 +3320,8 @@

- - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100004 +
http://nanbyodata.jp/ontology/NANDO_1100004 (rdf:type owl:Class @@ -2871,7 +3331,7 @@

dcterms:identifier1100004NANDO:1100004
@@ -2881,6 +3341,13 @@

@en
+ rdfs:label + "ใ‚ใ‚“ใˆใใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -2890,7 +3357,12 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005046
@@ -2902,8 +3374,8 @@

- - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100005 +
http://nanbyodata.jp/ontology/NANDO_1100005 (rdf:type owl:Class @@ -2913,7 +3385,7 @@

dcterms:identifier1100005NANDO:1100005
@@ -2923,6 +3395,13 @@

@en
+ rdfs:label + "ใ˜ใ‚…ใ‚“ใ‹ใ‚“ใใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -2932,7 +3411,12 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004995
@@ -2944,8 +3428,8 @@

- - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100006 +
http://nanbyodata.jp/ontology/NANDO_1100006 (rdf:type owl:Class @@ -2955,7 +3439,7 @@

dcterms:identifier1100006NANDO:1100006
@@ -2965,6 +3449,13 @@

@en
+ rdfs:label + "ใ‘ใคใˆใใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -2974,7 +3465,12 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005570
@@ -2986,8 +3482,8 @@

- - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1100007 +
http://nanbyodata.jp/ontology/NANDO_1100007 (rdf:type owl:Class @@ -2997,7 +3493,7 @@

dcterms:identifier1100007NANDO:1100007
@@ -3007,6 +3503,13 @@

@en
+ rdfs:label + "ใ˜ใ‚“ใƒปใฒใซใ‚‡ใ†ใใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3016,7 +3519,7 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
@@ -3028,8 +3531,8 @@

- - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1100008 +
http://nanbyodata.jp/ontology/NANDO_1100008 (rdf:type owl:Class @@ -3039,7 +3542,7 @@

dcterms:identifier1100008NANDO:1100008
@@ -3049,6 +3552,13 @@

@en
+ rdfs:label + "ใ“ใคใƒปใ‹ใ‚“ใ›ใคใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3058,7 +3568,7 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
@@ -3070,8 +3580,8 @@

- - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100009 +
http://nanbyodata.jp/ontology/NANDO_1100009 (rdf:type owl:Class @@ -3081,7 +3591,7 @@

dcterms:identifier1100009NANDO:1100009
@@ -3091,6 +3601,13 @@

@en
+ rdfs:label + "ใชใ„ใถใ‚“ใดใคใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3100,7 +3617,12 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005151
@@ -3112,8 +3634,8 @@

- - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100010 +
http://nanbyodata.jp/ontology/NANDO_1100010 (rdf:type owl:Class @@ -3123,7 +3645,7 @@

dcterms:identifier1100010NANDO:1100010
@@ -3133,6 +3655,13 @@

@en
+ rdfs:label + "ใ“ใใ‚…ใ†ใใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3142,7 +3671,12 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005087
@@ -3154,8 +3688,8 @@

- - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1100011 +
http://nanbyodata.jp/ontology/NANDO_1100011 (rdf:type owl:Class @@ -3165,7 +3699,7 @@

dcterms:identifier1100011NANDO:1100011
@@ -3175,6 +3709,13 @@

@en
+ rdfs:label + "ใ—ใ‹ใใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3184,7 +3725,7 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
@@ -3196,8 +3737,8 @@

- - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1100012 +
http://nanbyodata.jp/ontology/NANDO_1100012 (rdf:type owl:Class @@ -3207,7 +3748,7 @@

dcterms:identifier1100012NANDO:1100012
@@ -3217,6 +3758,13 @@

@en
+ rdfs:label + "ใกใ‚‡ใ†ใ‹ใใƒปใธใ„ใ“ใ†ใใฎใ†ใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3226,7 +3774,7 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
@@ -3238,8 +3786,8 @@

- - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100013 +
http://nanbyodata.jp/ontology/NANDO_1100013 (rdf:type owl:Class @@ -3249,7 +3797,7 @@

dcterms:identifier1100013NANDO:1100013
@@ -3259,6 +3807,13 @@

@en
+ rdfs:label + "ใ—ใ‚‡ใ†ใ‹ใใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3268,7 +3823,12 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004335
@@ -3280,8 +3840,8 @@

- - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100014 +
http://nanbyodata.jp/ontology/NANDO_1100014 (rdf:type owl:Class @@ -3291,7 +3851,7 @@

dcterms:identifier1100014NANDO:1100014
@@ -3301,6 +3861,13 @@

@en
+ rdfs:label + "ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:label @@ -3308,9 +3875,24 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2100279
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2100280
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019040
@@ -3322,8 +3904,8 @@

- - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1100015 +
http://nanbyodata.jp/ontology/NANDO_1100015 (rdf:type owl:Class @@ -3333,7 +3915,7 @@

dcterms:identifier1100015NANDO:1100015
@@ -3343,6 +3925,13 @@

@en
+ rdfs:label + "ใ˜ใณใ‹ใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
rdfs:label @@ -3352,7 +3941,12 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1000001http://nanbyodata.jp/ontology/NANDO_1000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024623
@@ -3364,8 +3958,8 @@

- - + - + @@ -3386,7 +3980,7 @@

- + + + + + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200001 +
http://nanbyodata.jp/ontology/NANDO_1200001 (rdf:type owl:Class @@ -3373,7 +3967,7 @@

hasNotificationNumberhasNotificationNumber 1
dcterms:identifier1200001NANDO:1200001
@@ -3401,6 +3995,13 @@

@en
+ rdfs:label + "ใใ‚…ใ†ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -3420,12 +4021,40 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/73https://www.nanbyou.or.jp/entry/234
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "KAS" + @ja
+ skos:altLabel + "Kennedy disease" + @en
+ skos:altLabel + "Kennedy-Alter-Sung็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "SBMA" + @en
@@ -3447,8 +4076,8 @@

- - + - + @@ -3469,7 +4098,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200002 +
http://nanbyodata.jp/ontology/NANDO_1200002 (rdf:type owl:Class @@ -3456,7 +4085,7 @@

hasNotificationNumberhasNotificationNumber 2
dcterms:identifier1200002NANDO:1200002
@@ -3484,6 +4113,13 @@

@en
+ rdfs:label + "ใใ‚“ใ„ใ—ใ‚…ใใ›ใ„ใใใ•ใใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -3498,12 +4134,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/52https://www.nanbyou.or.jp/entry/214
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "ALS" + @en
@@ -3520,8 +4163,8 @@

- - + - + @@ -3542,7 +4185,7 @@

- + + + + + + + + + @@ -3576,12 +4231,19 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200003 +
http://nanbyodata.jp/ontology/NANDO_1200003 (rdf:type owl:Class @@ -3529,7 +4172,7 @@

hasNotificationNumberhasNotificationNumber 3
dcterms:identifier1200003NANDO:1200003
@@ -3557,6 +4200,13 @@

@en
+ rdfs:label + "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -3564,6 +4214,11 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200853
rdfs:seeAlso https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00455
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/135https://www.nanbyou.or.jp/entry/285
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "SMA" + @en
@@ -3598,8 +4260,8 @@

- - + - + - + + + + + @@ -3647,18 +4316,25 @@

- + - + + + + + @@ -3669,6 +4345,13 @@

@ja

+ + + + @@ -3677,14 +4360,14 @@

http://nanbyodata.jp/ontology/nando#1200004 +
http://nanbyodata.jp/ontology/NANDO_1200004 (rdf:type owl:Class @@ -3607,13 +4269,13 @@

hasNotificationNumberhasNotificationNumber 3
dcterms:identifier1200004NANDO:1200004
@@ -3624,14 +4286,21 @@

rdfs:label - "Werdnig-Hoffmann disease" + "Spinal muscular atrophy type I" @en
rdfs:label - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ I ๅž‹" + "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 1ใŒใŸ" + @ja-Hira
+ rdfs:label + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡Iๅž‹" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/135https://www.nanbyou.or.jp/entry/285
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200003http://nanbyodata.jp/ontology/NANDO_1200003
+ skos:altLabel + "SMA I" + @en
skos:altLabel - "Spinal muscular atrophy type1" + "Werdnig-Hoffmann disease" @en
+ skos:altLabel + "ๆ€ฅๆ€งไนณๅ…ๅž‹SMA" + @ja
skos:closeMatch http://purl.obolibrary.org/obo/MONDO_0009669 skos:prefLabel - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ I ๅž‹" + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡Iๅž‹" @ja
- - + - + - + + + + + @@ -3732,18 +4422,18 @@

- + - + @@ -3754,9 +4444,11 @@

@ja

- - + +
http://nanbyodata.jp/ontology/nando#1200005 +
http://nanbyodata.jp/ontology/NANDO_1200005 (rdf:type owl:Class @@ -3692,13 +4375,13 @@

hasNotificationNumberhasNotificationNumber 3
dcterms:identifier1200005NANDO:1200005
@@ -3709,14 +4392,21 @@

rdfs:label - "Dubowitz disease" + "Spinal muscular atrophy type II" @en
rdfs:label - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ II ๅž‹" + "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 2ใŒใŸ" + @ja-Hira
+ rdfs:label + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIๅž‹" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/135https://www.nanbyou.or.jp/entry/285
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200003http://nanbyodata.jp/ontology/NANDO_1200003
skos:altLabel - "Spinal muscular atrophy type2" + "SMA II" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009124 + skos:altLabel + "ๆ…ขๆ€งไนณๅ…ๅž‹SMA" + @ja
@@ -3767,14 +4459,14 @@

skos:prefLabel - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ II ๅž‹" + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIๅž‹" @ja
- - + - + - + + + + + @@ -3822,18 +4521,25 @@

- + - + + + + + @@ -3844,6 +4550,20 @@

@ja

+ + + + + + + + @@ -3852,14 +4572,14 @@

http://nanbyodata.jp/ontology/nando#1200006 +
http://nanbyodata.jp/ontology/NANDO_1200006 (rdf:type owl:Class @@ -3782,13 +4474,13 @@

hasNotificationNumberhasNotificationNumber 3
dcterms:identifier1200006NANDO:1200006
@@ -3799,14 +4491,21 @@

rdfs:label - "Kugelberg-Welander disease" + "Spinal muscular atrophy type III" @en
rdfs:label - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ III ๅž‹" + "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 3ใŒใŸ" + @ja-Hira
+ rdfs:label + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIIๅž‹" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/135https://www.nanbyou.or.jp/entry/285
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200003http://nanbyodata.jp/ontology/NANDO_1200003
skos:altLabel - "Spinal muscular atrophy type3" + "Kugelberg-Welander disease" + @en
+ skos:altLabel + "SMA III" @en
+ skos:altLabel + "ๆ…ขๆ€งๅž‹SMA" + @ja
+ skos:altLabel + "่‹ฅๅนดๅž‹SMA" + @ja
skos:closeMatch http://purl.obolibrary.org/obo/MONDO_0009672 skos:prefLabel - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ III ๅž‹" + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIIๅž‹" @ja
- - + - + - + + + + + + + + + @@ -3902,21 +4634,28 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200007 +
http://nanbyodata.jp/ontology/NANDO_1200007 (rdf:type owl:Class @@ -3867,13 +4587,13 @@

hasNotificationNumberhasNotificationNumber 3
dcterms:identifier1200007NANDO:1200007
@@ -3884,17 +4604,29 @@

rdfs:label - "Spinal muscular atrophy type4" + "Spinal muscular atrophy type IV" @en
rdfs:label - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ IV ๅž‹" + "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 4ใŒใŸ" + @ja-Hira
+ rdfs:label + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IVๅž‹" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3039
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198037.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/135https://www.nanbyou.or.jp/entry/285
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200003http://nanbyodata.jp/ontology/NANDO_1200003
skos:altLabel - "SMA type4" + "SMA IV" @en
+ skos:altLabel + "ๆˆไบบๅž‹SMA" + @ja
skos:altLabel @@ -3924,17 +4663,22 @@

@ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010056
skos:prefLabel - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ IV ๅž‹" + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IVๅž‹" @ja
- - + - + @@ -3955,7 +4699,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200008 +
http://nanbyodata.jp/ontology/NANDO_1200008 (rdf:type owl:Class @@ -3942,7 +4686,7 @@

hasNotificationNumberhasNotificationNumber 4
dcterms:identifier1200008NANDO:1200008
@@ -3970,6 +4714,13 @@

@en
+ rdfs:label + "ใ’ใ‚“ใฑใคใ›ใ„ใใใ•ใใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -3984,12 +4735,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/92https://www.nanbyou.or.jp/entry/251
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "PLS" + @en
@@ -4006,8 +4764,8 @@

- - + - + @@ -4028,7 +4786,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200009 +
http://nanbyodata.jp/ontology/NANDO_1200009 (rdf:type owl:Class @@ -4015,7 +4773,7 @@

hasNotificationNumberhasNotificationNumber 5
dcterms:identifier1200009NANDO:1200009
@@ -4043,6 +4801,13 @@

@en
+ rdfs:label + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใใ˜ใ‚‡ใ†ใ›ใ„ใพใฒ" + @ja-Hira
rdfs:label @@ -4062,12 +4827,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4114https://www.nanbyou.or.jp/entry/4115
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "PSP" + @en
@@ -4084,8 +4856,8 @@

- - + - + @@ -4106,7 +4878,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200010 +
http://nanbyodata.jp/ontology/NANDO_1200010 (rdf:type owl:Class @@ -4093,7 +4865,7 @@

hasNotificationNumberhasNotificationNumber 6
dcterms:identifier1200010NANDO:1200010
@@ -4117,10 +4889,17 @@

rdfs:label - "Parkinson's Disease" + "Parkinson's disease" @en
+ rdfs:label + "ใฑใƒผใใ‚“ใใ‚“ใณใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -4140,12 +4919,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/169https://www.nanbyou.or.jp/entry/314
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "PD" + @en
@@ -4169,8 +4955,8 @@

- - + - + @@ -4191,7 +4977,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200011 +
http://nanbyodata.jp/ontology/NANDO_1200011 (rdf:type owl:Class @@ -4178,7 +4964,7 @@

hasNotificationNumberhasNotificationNumber 7
dcterms:identifier1200011NANDO:1200011
@@ -4206,6 +4992,13 @@

@en
+ rdfs:label + "ใ ใ„ใฎใ†ใฒใ—ใคใใฆใ„ใ‹ใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -4220,12 +5013,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/142https://www.nanbyou.or.jp/entry/291
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "CBD" + @en
@@ -4247,8 +5047,8 @@

- - + - + @@ -4269,7 +5069,7 @@

- + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200012 +
http://nanbyodata.jp/ontology/NANDO_1200012 (rdf:type owl:Class @@ -4256,7 +5056,7 @@

hasNotificationNumberhasNotificationNumber 8
dcterms:identifier1200012NANDO:1200012
@@ -4280,10 +5080,17 @@

rdfs:label - "Huntington's Disease" + "Huntington's disease" @en
+ rdfs:label + "ใฏใ‚“ใกใ‚“ใจใ‚“ใณใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -4308,12 +5115,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/175https://www.nanbyou.or.jp/entry/318
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
@@ -4337,8 +5144,8 @@

- - + - + @@ -4359,7 +5166,7 @@

- + + "ใ—ใ‚“ใ‘ใ„ใ‚†ใ†ใใ‚‡ใใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200013 +
http://nanbyodata.jp/ontology/NANDO_1200013 (rdf:type owl:Class @@ -4346,7 +5153,7 @@

hasNotificationNumberhasNotificationNumber 9
dcterms:identifier1200013NANDO:1200013
@@ -4377,13 +5184,15 @@

rdfs:label - "็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1663 + rdfs:label + "็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡" + @ja
@@ -4393,17 +5202,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4051https://www.nanbyou.or.jp/entry/4052
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008695http://nanbyodata.jp/ontology/NANDO_1100001
@@ -4420,8 +5224,8 @@

- - + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200014 +
http://nanbyodata.jp/ontology/NANDO_1200014 (rdf:type owl:Class @@ -4429,13 +5233,13 @@

hasNotificationNumberhasNotificationNumber 9
dcterms:identifier1200014NANDO:1200014
@@ -4446,10 +5250,17 @@

rdfs:label - "Choreoacanthocytosis" + "Chorea-acanthocytosis" @en
+ rdfs:label + "ใ‚†ใ†ใใ‚‡ใใ›ใฃใ‘ใฃใใ‚…ใ†ใถใจใ†ใณใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -4469,12 +5280,26 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4051https://www.nanbyou.or.jp/entry/4052
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200013http://nanbyodata.jp/ontology/NANDO_1200013
+ skos:altLabel + "ChAc" + @en
+ skos:altLabel + "Choreoacanthocytosis" + @en
@@ -4491,8 +5316,8 @@

- - + - + - + + + + + + + + + @@ -4540,12 +5377,19 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200015 +
http://nanbyodata.jp/ontology/NANDO_1200015 (rdf:type owl:Class @@ -4500,13 +5325,13 @@

hasNotificationNumberhasNotificationNumber 9
dcterms:identifier1200015NANDO:1200015
@@ -4528,11 +5353,23 @@

@ja
+ rdfs:label + "ใพใใ‚‰ใ†ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlso http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3591
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00655
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157718.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4051https://www.nanbyou.or.jp/entry/4052
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200013http://nanbyodata.jp/ontology/NANDO_1200013
+ skos:altLabel + "MLS" + @en
@@ -4562,8 +5406,8 @@

- - + - + @@ -4584,7 +5428,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200016 +
http://nanbyodata.jp/ontology/NANDO_1200016 (rdf:type owl:Class @@ -4571,7 +5415,7 @@

hasNotificationNumberhasNotificationNumber 10
dcterms:identifier1200016NANDO:1200016
@@ -4599,6 +5443,13 @@

@en
+ rdfs:label + "ใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -4618,12 +5469,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3773https://www.nanbyou.or.jp/entry/3774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "CMT" + @en
@@ -4640,8 +5498,8 @@

- - + - + - + + + + + @@ -4684,12 +5549,26 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200017 +
http://nanbyodata.jp/ontology/NANDO_1200017 (rdf:type owl:Class @@ -4649,13 +5507,13 @@

hasNotificationNumberhasNotificationNumber 10
dcterms:identifier1200017NANDO:1200017
@@ -4673,7 +5531,14 @@

rdfs:label - "่„ฑ้ซ„ๅž‹CMT" + "ใ ใคใšใ„ใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„ฑ้ซ„ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3773https://www.nanbyou.or.jp/entry/3774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200016http://nanbyodata.jp/ontology/NANDO_1200016
+ skos:altLabel + "CMT1" + @en
+ skos:altLabel + "่„ฑ้ซ„ๅž‹CMT" + @ja
@@ -4700,14 +5579,14 @@

skos:prefLabel - "่„ฑ้ซ„ๅž‹CMT" + "่„ฑ้ซ„ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…" @ja
- - + - + - + + + + + @@ -4750,12 +5636,26 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200018 +
http://nanbyodata.jp/ontology/NANDO_1200018 (rdf:type owl:Class @@ -4715,13 +5594,13 @@

hasNotificationNumberhasNotificationNumber 10
dcterms:identifier1200018NANDO:1200018
@@ -4739,7 +5618,14 @@

rdfs:label - "่ปธ็ดขๅž‹CMT" + "ใ˜ใใ•ใใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ปธ็ดขๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3773https://www.nanbyou.or.jp/entry/3774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200016http://nanbyodata.jp/ontology/NANDO_1200016
+ skos:altLabel + "CMT2" + @en
+ skos:altLabel + "่ปธ็ดขๅž‹CMT" + @ja
@@ -4766,14 +5666,14 @@

skos:prefLabel - "่ปธ็ดขๅž‹CMT" + "่ปธ็ดขๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…" @ja
- - + - + - + + + + + @@ -4816,12 +5723,26 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200019 +
http://nanbyodata.jp/ontology/NANDO_1200019 (rdf:type owl:Class @@ -4781,13 +5681,13 @@

hasNotificationNumberhasNotificationNumber 10
dcterms:identifier1200019NANDO:1200019
@@ -4805,7 +5705,14 @@

rdfs:label - "ไธญ้–“ๅž‹CMT" + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้–“ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3773https://www.nanbyou.or.jp/entry/3774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200016http://nanbyodata.jp/ontology/NANDO_1200016
+ skos:altLabel + "Intermediate CMT" + @en
+ skos:altLabel + "ไธญ้–“ๅž‹CMT" + @ja
@@ -4832,14 +5753,14 @@

skos:prefLabel - "ไธญ้–“ๅž‹CMT" + "ไธญ้–“ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…" @ja
- - + - + @@ -4860,7 +5781,7 @@

- + + + + + + + + + @@ -4899,12 +5832,19 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200020 +
http://nanbyodata.jp/ontology/NANDO_1200020 (rdf:type owl:Class @@ -4847,7 +5768,7 @@

hasNotificationNumberhasNotificationNumber 11
dcterms:identifier1200020NANDO:1200020
@@ -4875,6 +5796,13 @@

@en
+ rdfs:label + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -4882,6 +5810,11 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200906
rdfs:seeAlso http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2675
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/120https://www.nanbyou.or.jp/entry/272
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "MG" + @en
@@ -4921,8 +5861,8 @@

- - + - + @@ -4943,7 +5883,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200021 +
http://nanbyodata.jp/ontology/NANDO_1200021 (rdf:type owl:Class @@ -4930,7 +5870,7 @@

hasNotificationNumberhasNotificationNumber 12
dcterms:identifier1200021NANDO:1200021
@@ -4958,6 +5898,13 @@

@en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:label @@ -4977,12 +5924,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3963https://www.nanbyou.or.jp/entry/3997
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "CMS" + @en
@@ -4999,8 +5953,8 @@

- - + - + @@ -5021,7 +5975,7 @@

- + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200022 +
http://nanbyodata.jp/ontology/NANDO_1200022 (rdf:type owl:Class @@ -5008,7 +5962,7 @@

hasNotificationNumberhasNotificationNumber 13
dcterms:identifier1200022NANDO:1200022
@@ -5032,10 +5986,17 @@

rdfs:label - "Multiple sclerosis/Neuromyelitis Optica" + "Multiple sclerosis/Neuromyelitis optica spectrum disorders" @en
+ rdfs:label + "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†๏ผใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“" + @ja-Hira
rdfs:label @@ -5050,12 +6011,33 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3806https://www.nanbyou.or.jp/entry/3807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "MS/NMO" + @en
+ skos:altLabel + "MS/NMOSD" + @en
+ skos:altLabel + "Multiple sclerosis/Neuromyelitis optica" + @en
@@ -5067,8 +6049,8 @@

- - + - + - + + + + + + + + + @@ -5116,12 +6110,19 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200023 +
http://nanbyodata.jp/ontology/NANDO_1200023 (rdf:type owl:Class @@ -5076,13 +6058,13 @@

hasNotificationNumberhasNotificationNumber 13
dcterms:identifier1200023NANDO:1200023
@@ -5097,6 +6079,13 @@

@en
+ rdfs:label + "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -5104,6 +6093,11 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200904
rdfs:seeAlso https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01490
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3806https://www.nanbyou.or.jp/entry/3807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200022http://nanbyodata.jp/ontology/NANDO_1200022
+ skos:altLabel + "MS" + @en
@@ -5138,8 +6139,8 @@

- - + - + - + + + + + + + + + @@ -5182,12 +6195,40 @@

- + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200024 +
http://nanbyodata.jp/ontology/NANDO_1200024 (rdf:type owl:Class @@ -5147,13 +6148,13 @@

hasNotificationNumberhasNotificationNumber 13
dcterms:identifier1200024NANDO:1200024
@@ -5164,17 +6165,29 @@

rdfs:label - "Relapsing-remittingย multiple sclerosis" + "Relapsing-remitting multiple sclerosis" @en
rdfs:label - "ๅ†็™บๅฏ›่งฃๅž‹MS" + "ใ•ใ„ใฏใคใ‹ใ‚“ใ‹ใ„ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201319
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157736.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3806https://www.nanbyou.or.jp/entry/3807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200023http://nanbyodata.jp/ontology/NANDO_1200023
+ skos:altLabel + "RRMS" + @en
+ skos:altLabel + "relapsing-remitting MS" + @en
+ skos:altLabel + "ๅ†็™บๅž‹MS" + @ja
+ skos:altLabel + "ๅ†็™บๅฏ›่งฃๅž‹MS" + @ja
@@ -5198,14 +6239,14 @@

skos:prefLabel - "ๅ†็™บๅฏ›่งฃๅž‹MS" + "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
- - + - + - + + + + + + + + + @@ -5248,12 +6301,33 @@

- + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200025 +
http://nanbyodata.jp/ontology/NANDO_1200025 (rdf:type owl:Class @@ -5213,13 +6254,13 @@

hasNotificationNumberhasNotificationNumber 13
dcterms:identifier1200025NANDO:1200025
@@ -5230,17 +6271,29 @@

rdfs:label - "primaryย progressiveย multiple sclerosis" + "Primary progressive multiple sclerosis" @en
rdfs:label - "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS" + "ใ„ใกใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201320
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157736.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3806https://www.nanbyou.or.jp/entry/3807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200023http://nanbyodata.jp/ontology/NANDO_1200023
+ skos:altLabel + "PPMS" + @en
+ skos:altLabel + "primary progressive MS" + @en
+ skos:altLabel + "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS" + @ja
@@ -5264,14 +6338,14 @@

skos:prefLabel - "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS" + "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
- - + - + - + + + + + + + + + @@ -5314,12 +6400,33 @@

- + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200026 +
http://nanbyodata.jp/ontology/NANDO_1200026 (rdf:type owl:Class @@ -5279,13 +6353,13 @@

hasNotificationNumberhasNotificationNumber 13
dcterms:identifier1200026NANDO:1200026
@@ -5296,17 +6370,29 @@

rdfs:label - "secondaryย progressiveย multiple sclerosis" + "Secondary progressive multiple sclerosis" @en
rdfs:label - "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS" + "ใซใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201321
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157736.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3806https://www.nanbyou.or.jp/entry/3807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200023http://nanbyodata.jp/ontology/NANDO_1200023
+ skos:altLabel + "SPMS" + @en
+ skos:altLabel + "secondary progressive MS" + @en
+ skos:altLabel + "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS" + @ja
@@ -5330,14 +6437,14 @@

skos:prefLabel - "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS" + "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
- - + - + - + + + + + + + + + @@ -5385,12 +6504,19 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200027 +
http://nanbyodata.jp/ontology/NANDO_1200027 (rdf:type owl:Class @@ -5345,13 +6452,13 @@

hasNotificationNumberhasNotificationNumber 13
dcterms:identifier1200027NANDO:1200027
@@ -5362,10 +6469,17 @@

rdfs:label - "Neuromyelitis Optica" + "Neuromyelitis optica spectrum disorders" @en
+ rdfs:label + "ใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“" + @ja-Hira
rdfs:label @@ -5373,6 +6487,11 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201322
rdfs:seeAlso https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01491
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3806https://www.nanbyou.or.jp/entry/3807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200022http://nanbyodata.jp/ontology/NANDO_1200022
+ skos:altLabel + "NMOSD" + @en
@@ -5407,8 +6533,8 @@

- - + - + - + + + + + @@ -5451,12 +6584,26 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200028 +
http://nanbyodata.jp/ontology/NANDO_1200028 (rdf:type owl:Class @@ -5416,13 +6542,13 @@

hasNotificationNumberhasNotificationNumber 13
dcterms:identifier1200028NANDO:1200028
@@ -5444,6 +6570,13 @@

@ja
+ rdfs:label + "ใฐใ‚ใƒผใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157736.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3806https://www.nanbyou.or.jp/entry/3807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200022http://nanbyodata.jp/ontology/NANDO_1200022
+ skos:altLabel + "BCS" + @en
+ skos:altLabel + "Balรณ's disease" + @en
@@ -5480,8 +6627,8 @@

- - + - + @@ -5502,7 +6649,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200029 +
http://nanbyodata.jp/ontology/NANDO_1200029 (rdf:type owl:Class @@ -5489,7 +6636,7 @@

hasNotificationNumberhasNotificationNumber 14
dcterms:identifier1200029NANDO:1200029
@@ -5513,10 +6660,17 @@

rdfs:label - "Chronic Inflammatory Demyelinating Polyneuropathy /Multifocal Motor Neuropathy" + "Chronic inflammatory demyelinating polyneuropathy/Multifocal motor neuropathy" @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“๏ผ ใŸใใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใซใ‚…ใƒผใ‚ใฑใกใƒผ" + @ja-Hira
rdfs:label @@ -5531,12 +6685,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4089https://www.nanbyou.or.jp/entry/4090
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "CIDP/MMN" + @en
@@ -5548,8 +6709,8 @@

- - + - + - + + + + + + + + + @@ -5602,18 +6775,18 @@

- + - + @@ -5622,6 +6795,11 @@

+ + + + @@ -5636,8 +6814,8 @@

http://nanbyodata.jp/ontology/nando#1200030 +
http://nanbyodata.jp/ontology/NANDO_1200030 (rdf:type owl:Class @@ -5557,13 +6718,13 @@

hasNotificationNumberhasNotificationNumber 14
dcterms:identifier1200030NANDO:1200030
@@ -5578,6 +6739,13 @@

@en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“" + @ja-Hira
rdfs:label @@ -5585,6 +6753,11 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200905
rdfs:seeAlso http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=679
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4089https://www.nanbyou.or.jp/entry/4090
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200029http://nanbyodata.jp/ontology/NANDO_1200029
skos:altLabel - "Chronic Inflammatory Demyelinating Polyneuropathy" + "CIDP" @en
http://purl.obolibrary.org/obo/MONDO_0002335
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006702
skos:closeMatch http://purl.obolibrary.org/obo/MONDO_0007691
- - + - + - + + + + + - + - + @@ -5709,8 +6894,8 @@

http://nanbyodata.jp/ontology/nando#1200031 +
http://nanbyodata.jp/ontology/NANDO_1200031 (rdf:type owl:Class @@ -5645,13 +6823,13 @@

hasNotificationNumberhasNotificationNumber 14
dcterms:identifier1200031NANDO:1200031
@@ -5666,6 +6844,13 @@

@en
+ rdfs:label + "ใŸใใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใซใ‚…ใƒผใ‚ใฑใกใƒผ" + @ja-Hira
rdfs:label @@ -5680,18 +6865,18 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4089https://www.nanbyou.or.jp/entry/4090
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200029http://nanbyodata.jp/ontology/NANDO_1200030
skos:altLabel - "Multifocal Motor Neuropathy" + "MMN" @en
- - + - + @@ -5731,7 +6916,7 @@

- + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200032 +
http://nanbyodata.jp/ontology/NANDO_1200032 (rdf:type owl:Class @@ -5718,7 +6903,7 @@

hasNotificationNumberhasNotificationNumber 15
dcterms:identifier1200032NANDO:1200032
@@ -5742,10 +6927,17 @@

rdfs:label - "Inclusion body myositis" + "Sporadic inclusion body myositis" @en
+ rdfs:label + "ใตใ†ใซใ‚…ใ†ใŸใ„ใใ‚“ใˆใ‚“" + @ja-Hira
rdfs:label @@ -5770,12 +6962,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3801https://www.nanbyou.or.jp/entry/3802
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "sIBM" + @en
@@ -5792,8 +6991,8 @@

- - + - + @@ -5814,7 +7013,7 @@

- + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200033 +
http://nanbyodata.jp/ontology/NANDO_1200033 (rdf:type owl:Class @@ -5801,7 +7000,7 @@

hasNotificationNumberhasNotificationNumber 16
dcterms:identifier1200033NANDO:1200033
@@ -5829,6 +7028,13 @@

@en
+ rdfs:label + "ใใ‚ใ†ใƒปใตใ‹ใ›ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:label @@ -5848,12 +7054,33 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/82https://www.nanbyou.or.jp/entry/241
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "POEMS syndrome" + @en
+ skos:altLabel + "POEMS็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes syndrome" + @en
@@ -5870,8 +7097,8 @@

- - + - + @@ -5892,7 +7119,7 @@

- + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200034 +
http://nanbyodata.jp/ontology/NANDO_1200034 (rdf:type owl:Class @@ -5879,7 +7106,7 @@

hasNotificationNumberhasNotificationNumber 17
dcterms:identifier1200034NANDO:1200034
@@ -5907,6 +7134,13 @@

@en
+ rdfs:label + "ใŸใ‘ใ„ใจใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -5936,7 +7170,14 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "MSA" + @en
@@ -5953,8 +7194,8 @@

- - + - + - + + + + + @@ -6002,7 +7250,28 @@

- + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200035 +
http://nanbyodata.jp/ontology/NANDO_1200035 (rdf:type owl:Class @@ -5962,13 +7203,13 @@

hasNotificationNumberhasNotificationNumber 17
dcterms:identifier1200035NANDO:1200035
@@ -5990,6 +7231,13 @@

@en
+ rdfs:label + "ใˆใ‚€ใˆใ™ใˆใƒผใ—ใƒผ" + @ja-Hira
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157734.docx
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200034http://nanbyodata.jp/ontology/NANDO_1200034
+ skos:altLabel + "MSA-C" + @en
+ skos:altLabel + "Multiple system atrophy, cerebellar variant" + @en
+ skos:altLabel + "ๅฐ่„ณๅคฑ่ชฟๅ„ชไฝๅž‹" + @ja
@@ -6019,8 +7288,8 @@

- - + - + - + + + + + @@ -6068,7 +7344,21 @@

- + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200036 +
http://nanbyodata.jp/ontology/NANDO_1200036 (rdf:type owl:Class @@ -6028,13 +7297,13 @@

hasNotificationNumberhasNotificationNumber 17
dcterms:identifier1200036NANDO:1200036
@@ -6052,10 +7321,17 @@

rdfs:label - "Multiple system atrophy,ย parkinsonianย type" + "Multiple system atrophy, Parkinsonian type" @en
+ rdfs:label + "ใˆใ‚€ใˆใ™ใˆใƒผใดใƒผ" + @ja-Hira
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157734.docx
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200034http://nanbyodata.jp/ontology/NANDO_1200034
+ skos:altLabel + "MSA-P" + @en
+ skos:altLabel + "Multiple system atrophy, parkinsonian variant" + @en
@@ -6085,8 +7375,8 @@

- - + - + @@ -6107,7 +7397,7 @@

- + + + + + + + + + @@ -6141,12 +7443,19 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200037 +
http://nanbyodata.jp/ontology/NANDO_1200037 (rdf:type owl:Class @@ -6094,7 +7384,7 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200037NANDO:1200037
@@ -6122,6 +7412,13 @@

@en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -6129,6 +7426,11 @@

@ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200882
rdfs:seeAlso https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01616
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "SCD" + @en
@@ -6163,8 +7472,8 @@

- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200038 +
http://nanbyodata.jp/ontology/NANDO_1200038 (rdf:type owl:Class @@ -6172,13 +7481,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200038NANDO:1200038
@@ -6189,10 +7498,17 @@

rdfs:label - "Sporadic Spinocerebellar Degeneration" + "Sporadic spinocerebellar degeneration" @en
+ rdfs:label + "ใ“ใฏใคใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -6207,12 +7523,17 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200037http://nanbyodata.jp/ontology/NANDO_1200037
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000437
@@ -6224,8 +7545,8 @@

- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200039 +
http://nanbyodata.jp/ontology/NANDO_1200039 (rdf:type owl:Class @@ -6233,13 +7554,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200039NANDO:1200039
@@ -6250,10 +7571,17 @@

rdfs:label - "cortical cerebellar atrophy" + "Cortical cerebellar atrophy" @en
+ rdfs:label + "ใฒใ—ใคใ›ใ„ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -6268,12 +7596,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200038http://nanbyodata.jp/ontology/NANDO_1200038
+ skos:altLabel + "CCA" + @en
@@ -6285,8 +7620,8 @@

- - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200040 +
http://nanbyodata.jp/ontology/NANDO_1200040 (rdf:type owl:Class @@ -6294,13 +7629,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200040NANDO:1200040
@@ -6311,10 +7646,17 @@

rdfs:label - "autosomal dominant spinocerebellarย degeneration" + "Autosomal dominant hereditary spinocerebellar degeneration" @en
+ rdfs:label + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -6329,12 +7671,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200037http://nanbyodata.jp/ontology/NANDO_1200037
@@ -6346,8 +7688,8 @@

- - + - + - + + + + + - + - + + + + + + + + + + + + + @@ -6424,8 +7794,8 @@

http://nanbyodata.jp/ontology/nando#1200041 +
http://nanbyodata.jp/ontology/NANDO_1200041 (rdf:type owl:Class @@ -6355,13 +7697,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200041NANDO:1200041
@@ -6372,10 +7714,17 @@

rdfs:label - "spinocerebellar ataxia type 3" + "Spinocerebellar ataxia type 3" @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira
rdfs:label @@ -6395,12 +7744,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
@@ -6410,6 +7759,27 @@

@en
+ skos:altLabel + "Machado-Joseph disease" + @en
+ skos:altLabel + "SCA3" + @en
+ skos:altLabel + "ใƒžใƒใƒฃใƒ‰ใƒปใ‚ธใƒงใ‚ปใƒ•็—…" + @ja
skos:closeMatch http://purl.obolibrary.org/obo/MONDO_0007182
- - + - + - + + + + + - + - + - - - - @@ -6507,8 +7879,8 @@

http://nanbyodata.jp/ontology/nando#1200042 +
http://nanbyodata.jp/ontology/NANDO_1200042 (rdf:type owl:Class @@ -6433,13 +7803,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200042NANDO:1200042
@@ -6450,10 +7820,17 @@

rdfs:label - "spinocerebellar ataxia type 6" + "Spinocerebellar ataxia type 6" @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†6ใŒใŸ" + @ja-Hira
rdfs:label @@ -6473,26 +7850,21 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
skos:altLabel - "SCA3" + "SCA6" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007182
skos:closeMatch http://purl.obolibrary.org/obo/MONDO_0008457
- - + - + - + + + + + - + - + + + + + @@ -6585,8 +7971,8 @@

http://nanbyodata.jp/ontology/nando#1200043 +
http://nanbyodata.jp/ontology/NANDO_1200043 (rdf:type owl:Class @@ -6516,13 +7888,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200043NANDO:1200043
@@ -6537,6 +7909,13 @@

@en
+ rdfs:label + "ใ—ใ˜ใ‚‡ใ†ใ‹ใใ›ใใ‹ใใŸใ‚“ใใ†ใใ‚…ใ†ใ‚‹ใ„ใŸใ„ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -6556,12 +7935,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
@@ -6571,6 +7950,13 @@

@en
+ skos:altLabel + "Dentatorubral-pallidoluysian atrophy" + @en
skos:closeMatch http://purl.obolibrary.org/obo/MONDO_0007435
- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200044 +
http://nanbyodata.jp/ontology/NANDO_1200044 (rdf:type owl:Class @@ -6594,13 +7980,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200044NANDO:1200044
@@ -6611,10 +7997,17 @@

rdfs:label - "spinocerebellar ataxia type 31" + "Spinocerebellar ataxia type 31" @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†31ใŒใŸ" + @ja-Hira
rdfs:label @@ -6634,12 +8027,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
+ skos:altLabel + "SCA31" + @en
@@ -6656,8 +8056,8 @@

- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200045 +
http://nanbyodata.jp/ontology/NANDO_1200045 (rdf:type owl:Class @@ -6665,13 +8065,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200045NANDO:1200045
@@ -6682,10 +8082,17 @@

rdfs:label - "spinocerebellar ataxia type 1" + "Spinocerebellar ataxia type 1" @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
rdfs:label @@ -6705,12 +8112,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
+ skos:altLabel + "SCA1" + @en
@@ -6727,8 +8141,8 @@

- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200046 +
http://nanbyodata.jp/ontology/NANDO_1200046 (rdf:type owl:Class @@ -6736,13 +8150,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200046NANDO:1200046
@@ -6753,10 +8167,17 @@

rdfs:label - "spinocerebellar ataxia type 2" + "Spinocerebellar ataxia type 2" @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
rdfs:label @@ -6776,12 +8197,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
+ skos:altLabel + "SCA2" + @en
@@ -6798,8 +8226,8 @@

- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200047 +
http://nanbyodata.jp/ontology/NANDO_1200047 (rdf:type owl:Class @@ -6807,13 +8235,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200047NANDO:1200047
@@ -6824,10 +8252,17 @@

rdfs:label - "spinocerebellar ataxia type 7" + "Spinocerebellar ataxia type 7" @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†7ใŒใŸ" + @ja-Hira
rdfs:label @@ -6847,12 +8282,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
+ skos:altLabel + "SCA7" + @en
@@ -6869,8 +8311,8 @@

- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200048 +
http://nanbyodata.jp/ontology/NANDO_1200048 (rdf:type owl:Class @@ -6878,13 +8320,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200048NANDO:1200048
@@ -6895,10 +8337,17 @@

rdfs:label - "spinocerebellar ataxia type 36" + "Spinocerebellar ataxia type 36" @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†36ใŒใŸ" + @ja-Hira
rdfs:label @@ -6918,12 +8367,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200040http://nanbyodata.jp/ontology/NANDO_1200040
+ skos:altLabel + "SCA36" + @en
@@ -6940,8 +8396,8 @@

- - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200049 +
http://nanbyodata.jp/ontology/NANDO_1200049 (rdf:type owl:Class @@ -6949,13 +8405,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200049NANDO:1200049
@@ -6966,10 +8422,17 @@

rdfs:label - "autosomal dominant spinocerebellarย degeneration" + "Autosomal recessive hereditary spinocerebellar degeneration" @en
+ rdfs:label + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -6984,12 +8447,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200037http://nanbyodata.jp/ontology/NANDO_1200037
@@ -7001,8 +8464,8 @@

- - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200050 +
http://nanbyodata.jp/ontology/NANDO_1200050 (rdf:type owl:Class @@ -7010,13 +8473,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200050NANDO:1200050
@@ -7031,6 +8494,13 @@

@en
+ rdfs:label + "ใณใŸใฟใ‚“ใ„ใƒผใŸใ‚“ใฉใใ‘ใคใผใ†ใ›ใ„ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -7050,12 +8520,19 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200049http://nanbyodata.jp/ontology/NANDO_1200049
+ skos:altLabel + "AVED" + @en
@@ -7072,8 +8549,8 @@

- - + - + - + + + + + - + - + + + + + + + + + @@ -7164,8 +8662,8 @@

http://nanbyodata.jp/ontology/nando#1200051 +
http://nanbyodata.jp/ontology/NANDO_1200051 (rdf:type owl:Class @@ -7081,13 +8558,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200051NANDO:1200051
@@ -7098,10 +8575,17 @@

rdfs:label - "ataxia-oculomotor apraxia Type 1" + "Ataxia-oculomotor apraxia type 1" @en
+ rdfs:label + "ใ‚ใทใ‚‰ใŸใใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label @@ -7121,12 +8605,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200049http://nanbyodata.jp/ontology/NANDO_1200049
@@ -7136,6 +8620,13 @@

@en
+ skos:altLabel + "EAOH" + @en
skos:altLabel @@ -7146,7 +8637,14 @@

skos:altLabel - "็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใƒปไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚’ไผดใ†ๆ—ฉ็™บๅž‹ๅคฑ่ชฟ็—‡" + "ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚’ไผดใ†ๆ—ฉ็™บๅž‹่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + @ja
+ skos:altLabel + "็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ‚’ไผดใ†ๅคฑ่ชฟ็—‡" @ja
- - + - + - + + + + + + + + + @@ -7208,12 +8718,19 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200052 +
http://nanbyodata.jp/ontology/NANDO_1200052 (rdf:type owl:Class @@ -7173,13 +8671,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200052NANDO:1200052
@@ -7190,10 +8688,17 @@

rdfs:label - "hereditary spastic paraplegia" + "Hereditary spastic paraplegia" @en
+ rdfs:label + "ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ" + @ja-Hira
rdfs:label @@ -7201,6 +8706,11 @@

@ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00266
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157723.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200037http://nanbyodata.jp/ontology/NANDO_1200037
+ skos:altLabel + "HSP" + @en
@@ -7230,8 +8747,8 @@

- - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200053 +
http://nanbyodata.jp/ontology/NANDO_1200053 (rdf:type owl:Class @@ -7239,13 +8756,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200053NANDO:1200053
@@ -7256,10 +8773,17 @@

rdfs:label - "pure hereditary spastic paraplegia" + "Pure hereditary spastic paraplegia" @en
+ rdfs:label + "ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ๏ผˆใ˜ใ‚…ใ‚“ใ™ใ„ใŒใŸ๏ผ‰" + @ja-Hira
rdfs:label @@ -7274,12 +8798,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200052http://nanbyodata.jp/ontology/NANDO_1200052
@@ -7296,8 +8820,8 @@

- - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200054 +
http://nanbyodata.jp/ontology/NANDO_1200054 (rdf:type owl:Class @@ -7305,13 +8829,13 @@

hasNotificationNumberhasNotificationNumber 18
dcterms:identifier1200054NANDO:1200054
@@ -7322,10 +8846,17 @@

rdfs:label - "complex hereditary spastic paraplegia" + "Complex hereditary spastic paraplegia" @en
+ rdfs:label + "ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ๏ผˆใตใใ”ใ†ใŒใŸ๏ผ‰" + @ja-Hira
rdfs:label @@ -7340,12 +8871,12 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4879https://www.nanbyou.or.jp/entry/4880
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200052http://nanbyodata.jp/ontology/NANDO_1200052
@@ -7362,8 +8893,8 @@

- - + - + @@ -7384,92 +8915,33 @@

- + - - - - - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200055 +
http://nanbyodata.jp/ontology/NANDO_1200055 (rdf:type owl:Class @@ -7371,7 +8902,7 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200055NANDO:1200055
rdfs:label - "Lysosomal Storage Disease" + "Lysosomal storage disease" @en
rdfs:label - "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002561
- skos:prefLabel - "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" - @ja
- - - - - - - - - - - - - - - - - - + "ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ†" + @ja-Hira - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200056 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200056
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-01-201704-kojin.pdf
- rdfs:label - "Gaucher disease" - @en
rdfs:label - "Gaucher็—…" + "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00126https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01425
@@ -7479,30 +8951,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018150http://purl.obolibrary.org/obo/MONDO_0002561
skos:prefLabel - "Gaucher็—…" + "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200057 +
http://nanbyodata.jp/ontology/NANDO_1200056 (rdf:type owl:Class @@ -7510,13 +8982,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200057NANDO:1200056
@@ -7527,20 +8999,32 @@

rdfs:label - "Gaucher disease type 1" + "Gaucher disease" @en
rdfs:label - "Gaucher็—…๏ผ‘ๅž‹" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2253http://nanbyodata.jp/ontology/NANDO_2200562
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00126
@@ -7550,30 +9034,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200056http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "Gaucher็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009265http://purl.obolibrary.org/obo/MONDO_0018150
skos:prefLabel - "Gaucher็—…๏ผ‘ๅž‹" + "ใ‚ดใƒผใ‚ทใ‚ง็—…" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200058 +
http://nanbyodata.jp/ontology/NANDO_1200057 (rdf:type owl:Class @@ -7581,13 +9072,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200058NANDO:1200057
@@ -7598,20 +9089,32 @@

rdfs:label - "Gaucher disease type 2" + "Gaucher disease type 1" @en
rdfs:label - "Gaucher็—…๏ผ’ๅž‹" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2254http://nanbyodata.jp/ontology/NANDO_2201210
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2253
@@ -7621,30 +9124,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200056http://nanbyodata.jp/ontology/NANDO_1200056
+ skos:altLabel + "GD type 1" + @en
+ skos:altLabel + "Gaucher็—…1ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009266http://purl.obolibrary.org/obo/MONDO_0009265
skos:prefLabel - "Gaucher็—…๏ผ’ๅž‹" + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200059 +
http://nanbyodata.jp/ontology/NANDO_1200058 (rdf:type owl:Class @@ -7652,13 +9169,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200059NANDO:1200058
@@ -7669,20 +9186,32 @@

rdfs:label - "Gaucher disease type 3" + "Gaucher disease type 2" @en
rdfs:label - "Gaucher็—…๏ผ“ๅž‹" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2255http://nanbyodata.jp/ontology/NANDO_2201211
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2254
@@ -7692,30 +9221,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200056http://nanbyodata.jp/ontology/NANDO_1200056
+ skos:altLabel + "Gaucher็—…2ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009267http://purl.obolibrary.org/obo/MONDO_0009266
skos:prefLabel - "Gaucher็—…๏ผ“ๅž‹" + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹" @ja
- - + - + - + - + + + + + + + + + + + + + @@ -7758,25 +9311,37 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200060 +
http://nanbyodata.jp/ontology/NANDO_1200059 (rdf:type owl:Class @@ -7723,34 +9259,51 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200060NANDO:1200059
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-01-201704-kojin.pdf
rdfs:label - "Niemann-Pick disease Type A, B" + "Gaucher disease type 3" @en
rdfs:label - "Niemann-Pick็—…Aใ€Bๅž‹" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201212
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2255
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200056
+ skos:altLabel + "Gaucher็—…3ๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009267
skos:prefLabel - "Niemann-Pick็—…Aใ€Bๅž‹" + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹" @ja
- - + - + - + + "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใ€ใณใƒผใŒใŸ" + @ja-Hira - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200061 +
http://nanbyodata.jp/ontology/NANDO_1200060 (rdf:type owl:Class @@ -7784,13 +9349,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200061NANDO:1200060
@@ -7801,20 +9366,22 @@

rdfs:label - "Niemann-Pick disease type A" + "Niemann-Pick disease types A and B" @en
rdfs:label - "Niemann-Pick็—…Aๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2743 + rdfs:label + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aใ€Bๅž‹" + @ja
@@ -7824,37 +9391,39 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200060http://nanbyodata.jp/ontology/NANDO_1200055
skos:altLabel - "Niemann-Pick disease type A/B" + "NPD type A and B" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009756 + skos:altLabel + "Niemann-Pick็—…Aๅž‹ใ€Bๅž‹" + @ja
skos:prefLabel - "Niemann-Pick็—…Aๅž‹" + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aใ€Bๅž‹" @ja
- - + - + - + + + + + - + + + + + - + - + + "Niemann-Pick็—…Aๅž‹" + @ja - +
http://nanbyodata.jp/ontology/nando#1200062 +
http://nanbyodata.jp/ontology/NANDO_1200061 (rdf:type owl:Class @@ -7862,13 +9431,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200062NANDO:1200061
@@ -7879,20 +9448,32 @@

rdfs:label - "Niemann-Pick disease type B" + "Niemann-Pick disease type A" @en
rdfs:label - "Niemann-Pick็—…Bๅž‹" + "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4619http://nanbyodata.jp/ontology/NANDO_2201206
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2743
@@ -7902,37 +9483,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200060http://nanbyodata.jp/ontology/NANDO_1200060
skos:altLabel - "Niemann-Pick disease type A/B" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011871http://purl.obolibrary.org/obo/MONDO_0009756
skos:prefLabel - "Niemann-Pick็—…Bๅž‹" + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹" @ja
- - + - + - + - + + + + + - + + + + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200063 +
http://nanbyodata.jp/ontology/NANDO_1200062 (rdf:type owl:Class @@ -7940,37 +9521,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200063NANDO:1200062
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-02-201704-kojin.pdf
rdfs:label - "Niemann-Pick disease Type C" + "Niemann-Pick disease type B" @en
rdfs:label - "Niemann-Pick็—…Cๅž‹" + "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2744http://nanbyodata.jp/ontology/NANDO_2201207
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4619
@@ -7980,35 +9573,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200060
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009757 + skos:altLabel + "Niemann-Pick็—…Bๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018982http://purl.obolibrary.org/obo/MONDO_0011871
skos:prefLabel - "Niemann-Pick็—…Cๅž‹" + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹" @ja
- - + - + - + + + + + + + + + + + + + @@ -8044,18 +9658,44 @@

- + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200064 +
http://nanbyodata.jp/ontology/NANDO_1200063 (rdf:type owl:Class @@ -8016,13 +9611,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200064NANDO:1200063
@@ -8033,10 +9628,29 @@

rdfs:label - "Niemann-Pick็—…Cๅž‹๏ผˆไนณๅ…ๅž‹๏ผ‰" + "Niemann-Pick disease type C" + @en
+ rdfs:label + "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00136
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200063http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "NP-C" + @en
+ skos:altLabel + "Niemann-Pick็—…Cๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018982
+ skos:prefLabel + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" + @ja
- - + - + - + + + + + + + + + + + + + @@ -8091,18 +9750,39 @@

- + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200065 +
http://nanbyodata.jp/ontology/NANDO_1200064 (rdf:type owl:Class @@ -8063,13 +9703,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200065NANDO:1200064
@@ -8080,10 +9720,29 @@

rdfs:label - "Niemann-Pick็—…Cๅž‹๏ผˆๆˆไบบๅž‹๏ผ‰" + "Infantile-onset Niemann-Pick disease type C" + @en
+ rdfs:label + "ใซใ‚…ใ†ใ˜ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201208
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200063http://nanbyodata.jp/ontology/NANDO_1200063
+ skos:altLabel + " Infantile-onset NPC" + @en
+ skos:altLabel + "Niemann-Pick็—…Cๅž‹๏ผˆไนณๅ…ๅž‹๏ผ‰" + @ja
+ skos:prefLabel + "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" + @ja
- - + - + - + - + + + + + + + + + @@ -8145,30 +9837,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200066 +
http://nanbyodata.jp/ontology/NANDO_1200065 (rdf:type owl:Class @@ -8110,34 +9790,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200066NANDO:1200065
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-03-201704-kojin.pdf
rdfs:label - "GM1 Gangliosidosis" + "Adult-onset Niemann-Pick disease type C" @en
rdfs:label - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201209
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200063
+ skos:altLabel + "Niemann-Pick็—…Cๅž‹๏ผˆๆˆไบบๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018149http://purl.obolibrary.org/obo/MONDO_0016310
skos:prefLabel - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200067 +
http://nanbyodata.jp/ontology/NANDO_1200066 (rdf:type owl:Class @@ -8176,13 +9875,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200067NANDO:1200066
@@ -8193,20 +9892,32 @@

rdfs:label - "GM1 gangliosidosis type 1" + "GM1 gangliosidosis" @en
rdfs:label - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" + "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:label + "ใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2248http://nanbyodata.jp/ontology/NANDO_2200558
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00281
@@ -8216,30 +9927,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200066http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "Beta-galactosidase-1 deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009260http://purl.obolibrary.org/obo/MONDO_0018149
skos:prefLabel - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" + "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200068 +
http://nanbyodata.jp/ontology/NANDO_1200067 (rdf:type owl:Class @@ -8247,13 +9965,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200068NANDO:1200067
@@ -8264,20 +9982,32 @@

rdfs:label - "GM1 gangliosidosis type 2" + "Infantile GM1 gangliosidosis" @en
rdfs:label - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + "ใซใ‚…ใ†ใ˜ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2249http://nanbyodata.jp/ontology/NANDO_2201196
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2248
@@ -8287,30 +10017,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200066http://nanbyodata.jp/ontology/NANDO_1200066
+ skos:altLabel + "Type 1 GM1 gangliosidosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009261http://purl.obolibrary.org/obo/MONDO_0009260
skos:prefLabel - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200069 +
http://nanbyodata.jp/ontology/NANDO_1200068 (rdf:type owl:Class @@ -8318,13 +10055,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200069NANDO:1200068
@@ -8335,20 +10072,32 @@

rdfs:label - "GM1 gangliosidosis type 3" + "Juvenile GM1 gangliosidosis" @en
rdfs:label - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰" + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2250http://nanbyodata.jp/ontology/NANDO_2201197
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2249
@@ -8358,30 +10107,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200066http://nanbyodata.jp/ontology/NANDO_1200066
+ skos:altLabel + "Type 2 GM1 gangliosidosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009262http://purl.obolibrary.org/obo/MONDO_0009261
skos:prefLabel - "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰" + "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + - - - - - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200070 +
http://nanbyodata.jp/ontology/NANDO_1200069 (rdf:type owl:Class @@ -8389,103 +10145,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200070NANDO:1200069
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-04-201704-kojin.pdf
rdfs:label - "GM2 Gangliosidosis" + "Adult GM1 gangliosidosis" @en
rdfs:label - "GM2ใ‚ฌใƒณใ‚ฐใƒชใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017720
- skos:prefLabel - "GM2ใ‚ฌใƒณใ‚ฐใƒชใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" - @ja
- - - - - - - - - - - - - - + "ใ›ใ„ใ˜ใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200071 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200071
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-05-201704-kojin.pdf
rdfs:label - "Tay-Sachs็—…" + "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- rdfs:label - "Tayโ€“Sachs disease" - @en + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201198
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3084http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2250
@@ -8495,37 +10197,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200070http://nanbyodata.jp/ontology/NANDO_1200066
skos:altLabel - "TSD" + "Type 3 GM1 gangliosidosis" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010100http://purl.obolibrary.org/obo/MONDO_0009262
skos:prefLabel - "Tay-Sachs็—…" + "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200072 +
http://nanbyodata.jp/ontology/NANDO_1200070 (rdf:type owl:Class @@ -8533,13 +10235,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200072NANDO:1200070
@@ -8550,20 +10252,27 @@

rdfs:label - "Sandhoff disease" + "GM2 gangliosidosis" @en
rdfs:label - "Sandhoff็—…" + "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:label + "ใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2989http://nanbyodata.jp/ontology/NANDO_2200559
@@ -8573,30 +10282,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200070http://nanbyodata.jp/ontology/NANDO_1200055
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010006http://purl.obolibrary.org/obo/MONDO_0017720
skos:prefLabel - "Sandhoff็—…" + "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200073 +
http://nanbyodata.jp/ontology/NANDO_1200071 (rdf:type owl:Class @@ -8604,13 +10313,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200073NANDO:1200071
@@ -8621,20 +10330,27 @@

rdfs:label - "AB variant" + "Tay-Sachs disease" @en
rdfs:label - "ABๅž‹" + "Tay-Sachs็—…" @ja
+ rdfs:label + "ใฆใ„ใ•ใฃใใ™ใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3083http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3084
@@ -8644,37 +10360,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200070http://nanbyodata.jp/ontology/NANDO_1200070
skos:altLabel - "GM2-gangliosidosis,ย AB variant" + "TSD" @en
+ skos:altLabel + "ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010099http://purl.obolibrary.org/obo/MONDO_0010100
skos:prefLabel - "ABๅž‹" + "Tay-Sachs็—…" @ja
- - + - + - + - + + + + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200074 +
http://nanbyodata.jp/ontology/NANDO_1200072 (rdf:type owl:Class @@ -8682,42 +10405,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200074NANDO:1200072
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-05-201704-kojin.pdf
rdfs:label - "Krabbe disease" + "Sandhoff disease" @en
rdfs:label - "Krabbe็—…" + "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2490http://nanbyodata.jp/ontology/NANDO_2201200
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00135http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2989
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02017
@@ -8727,30 +10462,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200070
+ skos:altLabel + "SD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009499http://purl.obolibrary.org/obo/MONDO_0010006
skos:prefLabel - "Krabbe็—…" + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…" @ja
- - + - + - + - + + + + + + "ใˆใƒผใณใƒผใŒใŸใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira + + + + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200075 +
http://nanbyodata.jp/ontology/NANDO_1200073 (rdf:type owl:Class @@ -8758,32 +10500,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200075NANDO:1200073
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-05-201704-kojin.pdf
rdfs:label - "Infantile Krabbe disease" + "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + @ja
+ rdfs:label + "GM2 gangliosidosis AB variant" @en
rdfs:label - "Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰" - @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201201
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3083
@@ -8793,30 +10552,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200074http://nanbyodata.jp/ontology/NANDO_1200070
+ skos:altLabel + "GM2-gangliosidosis, AB variant" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016089http://purl.obolibrary.org/obo/MONDO_0010099
skos:prefLabel - "Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰" + "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + + "Krabbe disease" + @en + "ใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira + + + + + + + + + + + + + + + + - + - + + "Krabbe็—…" + @ja - +
http://nanbyodata.jp/ontology/nando#1200076 +
http://nanbyodata.jp/ontology/NANDO_1200074 (rdf:type owl:Class @@ -8824,13 +10590,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200076NANDO:1200074
@@ -8841,15 +10607,37 @@

rdfs:label - "Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" - @ja
rdfs:label - "Late-infantile/juvenile Krabbe disease" - @en
+ rdfs:label + "ใ‚ฏใƒฉใƒƒใƒ™็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200564
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2490
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00135
@@ -8859,37 +10647,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200074http://nanbyodata.jp/ontology/NANDO_1200055
skos:altLabel - "Krabbe disease, late-onset" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016090http://purl.obolibrary.org/obo/MONDO_0009499
skos:prefLabel - "Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + "ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - + - + + + + + + + + + @@ -8932,30 +10732,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200077 +
http://nanbyodata.jp/ontology/NANDO_1200075 (rdf:type owl:Class @@ -8897,13 +10685,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200077NANDO:1200075
@@ -8914,17 +10702,29 @@

rdfs:label - "Adult Krabbe disease" + "Infantile Krabbe disease" @en
rdfs:label - "Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰" + "ใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201216
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200074http://nanbyodata.jp/ontology/NANDO_1200074
+ skos:altLabel + "Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016091http://purl.obolibrary.org/obo/MONDO_0016089
skos:prefLabel - "Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰" + "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - - + +
http://nanbyodata.jp/ontology/nando#1200078 +
http://nanbyodata.jp/ontology/NANDO_1200076 (rdf:type owl:Class @@ -8963,42 +10770,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200078NANDO:1200076
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-07-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-06-201704-kojin.pdf
rdfs:label - "Metachromatic leukodystrophy" + "Juvenile Krabbe disease" @en
rdfs:label - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2577 + rdfs:label + "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00127http://nanbyodata.jp/ontology/NANDO_2201218
@@ -9008,35 +10817,32 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009591http://nanbyodata.jp/ontology/NANDO_1200074
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018868 + skos:altLabel + "Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + @ja
skos:prefLabel - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - + - + - + + + + + + + + + @@ -9079,30 +10897,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200079 +
http://nanbyodata.jp/ontology/NANDO_1200077 (rdf:type owl:Class @@ -9044,34 +10850,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200079NANDO:1200077
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-07-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-06-201704-kojin.pdf
rdfs:label - "Metachromatic leukodystrophy, late infantile form" + "Adult Krabbe disease" @en
rdfs:label - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅพŒๆœŸไนณๅ…ๅž‹๏ผ‰" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201219
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200078http://nanbyodata.jp/ontology/NANDO_1200074
+ skos:altLabel + "Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017729http://purl.obolibrary.org/obo/MONDO_0016091
skos:prefLabel - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅพŒๆœŸไนณๅ…ๅž‹๏ผ‰" + "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200080 +
http://nanbyodata.jp/ontology/NANDO_1200078 (rdf:type owl:Class @@ -9110,13 +10935,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200080NANDO:1200078
@@ -9127,20 +10952,32 @@

rdfs:label - "Metachromatic leukodystrophy, juvenile form" + "Metachromatic leukodystrophy" @en
rdfs:label - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + "ใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2577http://nanbyodata.jp/ontology/NANDO_2200560
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00127
@@ -9150,30 +10987,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200078http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "MLD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009591http://purl.obolibrary.org/obo/MONDO_0018868
skos:prefLabel - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - + - + + + + + + + + + @@ -9216,30 +11072,25 @@

- + - - - - - +
http://nanbyodata.jp/ontology/nando#1200081 +
http://nanbyodata.jp/ontology/NANDO_1200079 (rdf:type owl:Class @@ -9181,13 +11025,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200081NANDO:1200079
@@ -9198,17 +11042,29 @@

rdfs:label - "Metachromatic leukodystrophy, adult form" + "Late infantile metachromatic leukodystrophy" @en
rdfs:label - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅž‹๏ผ‰" + "ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201202
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200078
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017730http://nanbyodata.jp/ontology/NANDO_1200078
skos:prefLabel - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅž‹๏ผ‰" + "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - + - + + + + + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200082 +
http://nanbyodata.jp/ontology/NANDO_1200080 (rdf:type owl:Class @@ -9247,13 +11098,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200082NANDO:1200080
@@ -9264,20 +11115,32 @@

rdfs:label - "Saposin B deficiency" + "Juvenile ๏ฝetachromatic leukodystrophy" @en
rdfs:label - "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡" + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2576http://nanbyodata.jp/ontology/NANDO_2201203
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2577
@@ -9287,30 +11150,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200078http://nanbyodata.jp/ontology/NANDO_1200078
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009590http://purl.obolibrary.org/obo/MONDO_0009591
skos:prefLabel - "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡" + "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200083 +
http://nanbyodata.jp/ontology/NANDO_1200081 (rdf:type owl:Class @@ -9318,37 +11181,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200083NANDO:1200081
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-08-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-07-201704-kojin.pdf
rdfs:label - "Multiple sulfatase deficiency" + "Adult metachromatic leukodystrophy" @en
rdfs:label - "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071http://nanbyodata.jp/ontology/NANDO_2201204
@@ -9358,30 +11228,25 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010088http://nanbyodata.jp/ontology/NANDO_1200078
skos:prefLabel - "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - + - + - + + + + + - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200084 +
http://nanbyodata.jp/ontology/NANDO_1200082 (rdf:type owl:Class @@ -9389,93 +11254,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200084NANDO:1200082
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-08-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-07-201704-kojin.pdf
rdfs:label - "neonatal multipleย sulfatase deficiency" + "Saposin B deficiency" @en
rdfs:label - "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡(ๆ–ฐ็”Ÿๅ…ๅž‹)" + "ใ•ใฝใ—ใ‚“ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docxhttp://nanbyodata.jp/ontology/NANDO_2201205
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200083
- skos:prefLabel - "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡(ๆ–ฐ็”Ÿๅ…ๅž‹)" - @ja
- - - - - - - - - - - - - - - - - - - - - - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200085 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200085
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-08-201704-kojin.pdf
- rdfs:label - "Late-infantile multiple sulfatase deficiency" - @en
- rdfs:label - "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผˆไนณๅนผๅ…ๅž‹๏ผ‰" - @jahttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2576
@@ -9485,25 +11306,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200083http://nanbyodata.jp/ontology/NANDO_1200078
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009590
skos:prefLabel - "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผˆไนณๅนผๅ…ๅž‹๏ผ‰" + "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡" @ja
- - + - + - + - + + + + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200086 +
http://nanbyodata.jp/ontology/NANDO_1200083 (rdf:type owl:Class @@ -9511,37 +11337,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200086NANDO:1200083
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-08-201704-kojin.pdf
rdfs:label - "Farber disease" + "Multiple sulfatase deficiency" @en
rdfs:label - "Farber็—…" + "ใพใ‚‹ใกใทใ‚‹ใ•ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071
@@ -9551,30 +11384,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009218http://purl.obolibrary.org/obo/MONDO_0010088
skos:prefLabel - "Farber็—…" + "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - + - + - + + "Neonatal multiple sulfatase deficiency" + @en - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200087 +
http://nanbyodata.jp/ontology/NANDO_1200084 (rdf:type owl:Class @@ -9582,93 +11429,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200087NANDO:1200084
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-08-201704-kojin.pdf
rdfs:label - "Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰" - @ja
rdfs:label - "type 1 FD" - @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200086
- skos:prefLabel - "Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰" - @ja
- - - - - - - - - - - - - - + "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - +
http://nanbyodata.jp/ontology/nando#1200088 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200088
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf
rdfs:label - "Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰" + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- rdfs:label - "type 2 FD" - @en + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201227
@@ -9678,25 +11476,25 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200086http://nanbyodata.jp/ontology/NANDO_1200083
skos:prefLabel - "Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰" + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - + - + - + + "Late-infantile multiple sulfatase deficiency" + @en + "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200089 +
http://nanbyodata.jp/ontology/NANDO_1200085 (rdf:type owl:Class @@ -9704,32 +11502,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200089NANDO:1200085
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-08-201704-kojin.pdf
rdfs:label - "Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" - @ja
rdfs:label - "type 3 FD" - @en
+ rdfs:label + "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201228
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071
@@ -9739,25 +11554,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200086http://nanbyodata.jp/ontology/NANDO_1200083
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010088
skos:prefLabel - "Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - + - + + "Farber disease" + @en + "ใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - + + - -
http://nanbyodata.jp/ontology/nando#1200090 +
http://nanbyodata.jp/ontology/NANDO_1200086 (rdf:type owl:Class @@ -9765,13 +11585,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200090NANDO:1200086
@@ -9782,104 +11602,86 @@

rdfs:label - "Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰" - @ja
rdfs:label - "type 4 FD" - @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx + rdfs:label + "ใƒ•ใ‚กใƒผใƒใƒผ็—…" + @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063http://nanbyodata.jp/ontology/NANDO_2200565
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200086
- skos:prefLabel - "Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
- - - - - + + - - + + - - + + - + + "FD" + @en - + - - - - - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200091 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- dcterms:identifier1200091 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200055
- rdfs:label + skos:altLabel - "Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰" - @ja
- rdfs:label + skos:altLabel - "type 5 FD" + "Farber's lipogranulomatosis" @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063 + skos:altLabel + "Farber็—…" + @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200086 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰" + "ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - + - + + "Type 1 Farber disease" + @en + "ใ“ใฆใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira - - + + - + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#1200092 +
http://nanbyodata.jp/ontology/NANDO_1200087 (rdf:type owl:Class @@ -9887,13 +11689,13 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200092NANDO:1200087
@@ -9904,104 +11706,86 @@

rdfs:label - "Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰" - @ja
rdfs:label - "type 6 FD" - @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx + rdfs:label + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" + @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063http://nanbyodata.jp/ontology/NANDO_2201220
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200086 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
- skos:prefLabel - "Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰" - @ja + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- - - - - + + - - + + - - + + - + - + - - - - - - - - - - + +
http://nanbyodata.jp/ontology/nando#1200093 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
- dcterms:identifier1200093 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200086
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf + skos:altLabel + "Classic FD" + @en
- rdfs:label + skos:altLabel - "Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰" + "Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰" @ja
- rdfs:label + skos:altLabel - "type 7 FD" + "Type 1 FD" @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200086 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰" + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - + - + - + + + + + - + + + + + - + - + + "Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰" + @ja + "Intermediate FD" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200094 +
http://nanbyodata.jp/ontology/NANDO_1200088 (rdf:type owl:Class @@ -10009,37 +11793,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200094NANDO:1200088
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-10-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf
rdfs:label - "Hurler syndrome" + "Type 2 Farber disease" @en
rdfs:label - "Hurler็—‡ๅ€™็พค" + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4518http://nanbyodata.jp/ontology/NANDO_2201221
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
@@ -10049,49 +11845,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200086
skos:altLabel - "Mucopolysaccharidosis type 1" - @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001586 + skos:altLabel + "Type 2 FD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011758http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "Hurler็—‡ๅ€™็พค" + "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - + - + - + + + + + - + + + + + - + - + + "Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + @ja - - - - + "Mild FD" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200095 +
http://nanbyodata.jp/ontology/NANDO_1200089 (rdf:type owl:Class @@ -10099,37 +11897,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200095NANDO:1200089
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-10-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf
rdfs:label - "Scheie syndrome" + "Type 3 Farber disease" @en
rdfs:label - "Scheie็—‡ๅ€™็พค" + "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4520http://nanbyodata.jp/ontology/NANDO_2201222
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
@@ -10139,54 +11949,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200086
skos:altLabel - "Mucopolysaccharidosis type 1" - @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001586
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011759 + skos:altLabel + "Type 3 FD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011760http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "Scheie็—‡ๅ€™็พค" + "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - + - + - + + + + + - + + + + + - + - + + "Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰" + @ja + "Neonatal-visceral FD" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200096 +
http://nanbyodata.jp/ontology/NANDO_1200090 (rdf:type owl:Class @@ -10194,37 +12001,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200096NANDO:1200090
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-10-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf
rdfs:label - "Hurler-Scheie syndrome" + "Type 4 Farber disease" @en
rdfs:label - "Hurler๏ผScheie็—‡ๅ€™็พค" + "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4519http://nanbyodata.jp/ontology/NANDO_2201223
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
@@ -10234,49 +12053,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200086
skos:altLabel - "Mucopolysaccharidosis type 1" - @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001586 + skos:altLabel + "Type 4 FD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011759http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "Hurler๏ผScheie็—‡ๅ€™็พค" + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - + - + - + + + + + - + + + + + - + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200097 +
http://nanbyodata.jp/ontology/NANDO_1200091 (rdf:type owl:Class @@ -10284,37 +12105,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200097NANDO:1200091
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-11-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf
rdfs:label - "Hunter syndrome" + "Type 5 Farber disease" @en
rdfs:label - "Hunter็—‡ๅ€™็พค" + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3504http://nanbyodata.jp/ontology/NANDO_2201224
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
@@ -10324,30 +12157,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200086
+ skos:altLabel + "Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰" + @ja
+ skos:altLabel + "Neurologic FD" + @en
+ skos:altLabel + "Neurological Progressive variant" + @en
+ skos:altLabel + "Type 5 FD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010674http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "Hunter็—‡ๅ€™็พค" + "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - + - + - + + + + + - + + + + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200098 +
http://nanbyodata.jp/ontology/NANDO_1200092 (rdf:type owl:Class @@ -10355,37 +12216,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200098NANDO:1200092
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-11-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf
rdfs:label - "Hunter syndrome type A" + "Type 6 Farber disease" @en
rdfs:label - "Hunter็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" + "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†ใŒใฃใบใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3504http://nanbyodata.jp/ontology/NANDO_2201225
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
@@ -10395,49 +12268,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200097http://nanbyodata.jp/ontology/NANDO_1200086
skos:altLabel - "Mucopolysaccharidosis type 2" + "Combined Farber and Sandhoff Disease variant" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ " + "Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010674 + skos:altLabel + "Type 6 FD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016315http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "Hunter็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - + - + - + + + + + - + - + - + + "Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰" + @ja - - - - + "Prosaposin Deficiency" + @en - - + +
http://nanbyodata.jp/ontology/nando#1200099 +
http://nanbyodata.jp/ontology/NANDO_1200093 (rdf:type owl:Class @@ -10445,37 +12320,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200099NANDO:1200093
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-11-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-09-201704-kojin.pdf
rdfs:label - "Hunter syndrome type B" + "Type 7 Farber disease" @en
rdfs:label - "Hunter็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "ใตใใƒผใฐใƒผใณใ‚‡ใ†๏ผˆใทใ‚ใ•ใฝใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3504http://nanbyodata.jp/ontology/NANDO_2201226
@@ -10485,49 +12367,46 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200097http://nanbyodata.jp/ontology/NANDO_1200086
skos:altLabel - "Mucopolysaccharidosis type 2" - @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010674
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016316 + skos:altLabel + "Type 7 FD" + @en
skos:prefLabel - "Hunter็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰" @ja
- - + - + - + - + + + + + + + + + @@ -10570,30 +12461,58 @@

- + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200100 +
http://nanbyodata.jp/ontology/NANDO_1200094 (rdf:type owl:Class @@ -10535,34 +12414,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200100NANDO:1200094
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-10-201704-kojin.pdf
rdfs:label - "Sanfilippo syndrome" + "Hurler syndrome" @en
rdfs:label - "Sanfilippo็—‡ๅ€™็พค" + "Hurler็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใฏใƒผใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4518
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "MPS IH" + @en
+ skos:altLabel + "Mucopolysaccharidosis type IH" + @en
+ skos:altLabel + "ใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆHurler็—‡ๅ€™็พค๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018937http://purl.obolibrary.org/obo/MONDO_0011758
skos:prefLabel - "Sanfilippo็—‡ๅ€™็พค" + "Hurler็—‡ๅ€™็พค" @ja
- - + - + - + - + + + + + - + - + - + + + + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200101 +
http://nanbyodata.jp/ontology/NANDO_1200095 (rdf:type owl:Class @@ -10601,37 +12520,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200101NANDO:1200095
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-10-201704-kojin.pdf
rdfs:label - "Sanfilippo syndrome type A" + "Scheie syndrome" @en
rdfs:label - "Sanfilippo็—‡ๅ€™็พคAๅž‹" + "Scheie็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ—ใ‚ƒใ„ใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2641http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4520
@@ -10641,49 +12567,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200100http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "MPS IS" + @en
skos:altLabel - "Mucopolysaccharidosis type 3" + "Mucopolysaccharidosis type IS" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ " + "ใ‚ทใ‚งใ‚คใ‚จ็—‡ๅ€™็พค" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009655 + skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆScheie็—‡ๅ€™็พค๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018937http://purl.obolibrary.org/obo/MONDO_0011760
skos:prefLabel - "Sanfilippo็—‡ๅ€™็พคAๅž‹" + "Scheie็—‡ๅ€™็พค" @ja
- - + - + - + - + + + + + - + - + - + + + + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200102 +
http://nanbyodata.jp/ontology/NANDO_1200096 (rdf:type owl:Class @@ -10691,37 +12626,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200102NANDO:1200096
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-10-201704-kojin.pdf
rdfs:label - "Sanfilippo syndrome type B" + "Hurler-Scheie syndrome" @en
rdfs:label - "Sanfilippo็—‡ๅ€™็พคBๅž‹" + "Hurler๏ผScheie็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใฏใƒผใ‚‰ใƒผ/ใ—ใ‚ƒใ„ใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2642http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4519
@@ -10731,49 +12673,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200100http://nanbyodata.jp/ontology/NANDO_1200055
skos:altLabel - "Mucopolysaccharidosis type 3" + "MPS IH/S" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ " + "Mucopolysaccharidosis type IH/S" + @en
+ skos:altLabel + "ใƒใƒผใƒฉใƒผ๏ผใ‚ทใ‚งใ‚คใ‚จ็—‡ๅ€™็พค" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009656 + skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆHurler๏ผScheie็—‡ๅ€™็พค๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018937http://purl.obolibrary.org/obo/MONDO_0011759
skos:prefLabel - "Sanfilippo็—‡ๅ€™็พคBๅž‹" + "Hurler๏ผScheie็—‡ๅ€™็พค" @ja
- - + - + - + - + + + + + - + - + - + + + + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200103 +
http://nanbyodata.jp/ontology/NANDO_1200097 (rdf:type owl:Class @@ -10781,37 +12732,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200103NANDO:1200097
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-11-201704-kojin.pdf
rdfs:label - "Sanfilippo syndrome type C" + "Hunter syndrome" @en
rdfs:label - "Sanfilippo็—‡ๅ€™็พคCๅž‹" + "Hunter็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2643http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3504
@@ -10821,49 +12779,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200100http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "MPS II" + @en
skos:altLabel - "Mucopolysaccharidosis type 3" + "Mucopolysaccharidosis type II" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ " + "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009657 + skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018937http://purl.obolibrary.org/obo/MONDO_0010674
skos:prefLabel - "Sanfilippo็—‡ๅ€™็พคCๅž‹" + "Hunter็—‡ๅ€™็พค" @ja
- - + - + - + - + + "ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + + "Mucopolysaccharidosis type II, severe form" + @en - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200104 +
http://nanbyodata.jp/ontology/NANDO_1200098 (rdf:type owl:Class @@ -10871,37 +12838,39 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200104NANDO:1200098
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-11-201704-kojin.pdf
rdfs:label - "Sanfilippo syndrome type D" + "Hunter syndrome type A" @en
rdfs:label - "Sanfilippo็—‡ๅ€™็พคDๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2644 + rdfs:label + "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" + @ja
@@ -10911,49 +12880,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200100http://nanbyodata.jp/ontology/NANDO_1200097
skos:altLabel - "Mucopolysaccharidosis type 3" + "MPS IIA" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009658 + skos:altLabel + "Mucopolysaccharidosis type IIA" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ ๏ผˆ้‡็—‡ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018937http://purl.obolibrary.org/obo/MONDO_0016315
skos:prefLabel - "Sanfilippo็—‡ๅ€™็พคDๅž‹" + "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" @ja
- - + - + - + - + + + + + @@ -10996,30 +12981,58 @@

- + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200105 +
http://nanbyodata.jp/ontology/NANDO_1200099 (rdf:type owl:Class @@ -10961,31 +12939,38 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200105NANDO:1200099
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-13-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-11-201704-kojin.pdf
rdfs:label - "Morquio disease" + "Hunter syndrome type B" @en
rdfs:label - "Morquio็—‡ๅ€™็พค" + "ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200097
+ skos:altLabel + "MPS IIB" + @en
+ skos:altLabel + "Mucopolysaccharidosis type II, attenuated form" + @en
+ skos:altLabel + "Mucopolysaccharidosis type IIB" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018938http://purl.obolibrary.org/obo/MONDO_0016316
skos:prefLabel - "Morquio็—‡ๅ€™็พค" + "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" @ja
- - + - + - + - + + "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + + "Mucopolysaccharidosis type III" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200106 +
http://nanbyodata.jp/ontology/NANDO_1200100 (rdf:type owl:Class @@ -11027,37 +13040,39 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200106NANDO:1200100
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-13-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdf
rdfs:label - "Morquio disease type A" + "Sanfilippo disease" @en
rdfs:label - "Morquio็—‡ๅ€™็พคAๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2645 + rdfs:label + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พค" + @ja
@@ -11067,49 +13082,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200105http://nanbyodata.jp/ontology/NANDO_1200055
skos:altLabel - "Mucopolysaccharidosis type 4" + "MPS III" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009659 + skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018938http://purl.obolibrary.org/obo/MONDO_0018937
skos:prefLabel - "Morquio็—‡ๅ€™็พคAๅž‹" + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พค" @ja
- - + - + - + - + + + + + - + - + - + + "Mucopolysaccharidosis type IIIA" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200107 +
http://nanbyodata.jp/ontology/NANDO_1200101 (rdf:type owl:Class @@ -11117,37 +13134,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200107NANDO:1200101
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-13-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdf
rdfs:label - "Morquio disease type B" + "Sanfilippo disease type A" @en
rdfs:label - "Morquio็—‡ๅ€™็พคBๅž‹" + "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใˆใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคAๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2646http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2641
@@ -11157,49 +13181,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200105http://nanbyodata.jp/ontology/NANDO_1200100
skos:altLabel - "Mucopolysaccharidosis type 4" + "MPS IIIA" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009660 + skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Aๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018938http://purl.obolibrary.org/obo/MONDO_0009655
skos:prefLabel - "Morquio็—‡ๅ€™็พคBๅž‹" + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคAๅž‹" @ja
- - + - + - + - + + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200108 +
http://nanbyodata.jp/ontology/NANDO_1200102 (rdf:type owl:Class @@ -11207,37 +13233,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200108NANDO:1200102
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-14-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdf
rdfs:label - "Maroteaux-Lamy syndrome" + "Sanfilippo disease type B" @en
rdfs:label - "Maroteaux-Lamy็—‡ๅ€™็พค" + "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคBๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2647http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2642
@@ -11247,30 +13280,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200100
+ skos:altLabel + "MPS IIIB" + @en
+ skos:altLabel + "Mucopolysaccharidosis type IIIB" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Bๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009661http://purl.obolibrary.org/obo/MONDO_0009656
skos:prefLabel - "Maroteaux-Lamy็—‡ๅ€™็พค" + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคBๅž‹" @ja
- - + - + - + - + + "Sanfilippo disease type C" + @en + "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ—ใƒผใŒใŸ" + @ja-Hira + + + + - + - + - + + "Mucopolysaccharidosis type IIIC" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200109 +
http://nanbyodata.jp/ontology/NANDO_1200103 (rdf:type owl:Class @@ -11278,37 +13332,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200109NANDO:1200103
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-14-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdf
rdfs:label - "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" - @ja
rdfs:label - "Mucopolysaccharidosis type 6, rapidly progressing" - @en
+ rdfs:label + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคCๅž‹" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2647http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2643
@@ -11318,49 +13379,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200108http://nanbyodata.jp/ontology/NANDO_1200100
skos:altLabel - "Mucopolysaccharidosis type 6" + "MPS IIIC" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009661 + skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Cๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017171http://purl.obolibrary.org/obo/MONDO_0009657
skos:prefLabel - "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคCๅž‹" @ja
- - + - + - + - + + "Sanfilippo disease type D" + @en + "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใงใƒใƒผใŒใŸ" + @ja-Hira + + + + - + - + - + + "Mucopolysaccharidosis type IIID" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200110 +
http://nanbyodata.jp/ontology/NANDO_1200104 (rdf:type owl:Class @@ -11368,37 +13431,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200110NANDO:1200104
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-14-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-12-201704-kojin.pdf
rdfs:label - "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" - @ja
rdfs:label - "Mucopolysaccharidosis type 6, slowly progressing" - @en
+ rdfs:label + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคDๅž‹" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2647http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2644
@@ -11408,49 +13478,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200108http://nanbyodata.jp/ontology/NANDO_1200100
skos:altLabel - "Mucopolysaccharidosis type 6" + "MPS IIID" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ " - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009661 + skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Dๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017172http://purl.obolibrary.org/obo/MONDO_0009658
skos:prefLabel - "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคDๅž‹" @ja
- - + - + - + - + + "ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - - - - - + - + - - -
http://nanbyodata.jp/ontology/nando#1200111 +
http://nanbyodata.jp/ontology/NANDO_1200105 (rdf:type owl:Class @@ -11458,37 +13530,39 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200111NANDO:1200105
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-13-201704-kojin.pdf
rdfs:label - "Sly syndrome" + "Morquio syndrome" @en
rdfs:label - "Sly็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2648 + rdfs:label + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พค" + @ja
@@ -11498,101 +13572,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009662http://nanbyodata.jp/ontology/NANDO_1200055
- skos:prefLabel + skos:altLabel - "Sly็—…" - @ja
- - - - - - - - - - - - - - + "MPS IV" + @en - + - - - - - - - - - - - - - - - - - + + + + +
http://nanbyodata.jp/ontology/nando#1200112 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200112
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdf
- rdfs:label + skos:altLabel - "Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰" + "Morquio็—‡ๅ€™็พค" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2648
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200111
skos:altLabel - "Mucopolysaccharidosis type 7" + "Mucopolysaccharidosis type IV" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ " + "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009662http://purl.obolibrary.org/obo/MONDO_0018938
+ skos:prefLabel + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พค" + @ja
- - + - + - + - + + + + + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200113 +
http://nanbyodata.jp/ontology/NANDO_1200106 (rdf:type owl:Class @@ -11600,30 +13631,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200113NANDO:1200106
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-13-201704-kojin.pdf
rdfs:label - "Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰" + "Morquio syndrome type A" + @en
+ rdfs:label + "ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใˆใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2648http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2645
@@ -11633,37 +13678,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200111http://nanbyodata.jp/ontology/NANDO_1200105
+ skos:altLabel + "MPS IVA" + @en
skos:altLabel - "Mucopolysaccharidosis type 7" + "Mucopolysaccharidosis type IVA" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ " + "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Aๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009662http://purl.obolibrary.org/obo/MONDO_0009659
+ skos:prefLabel + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹" + @ja
- - + - + - + - + + + + + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200114 +
http://nanbyodata.jp/ontology/NANDO_1200107 (rdf:type owl:Class @@ -11671,30 +13730,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200114NANDO:1200107
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-13-201704-kojin.pdf
rdfs:label - "Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "Morquio syndrome type B" + @en
+ rdfs:label + "ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2648http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2646
@@ -11704,37 +13777,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200111http://nanbyodata.jp/ontology/NANDO_1200105
skos:altLabel - "Mucopolysaccharidosis type 7" + "MPS IVB" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ " + "Mucopolysaccharidosis type IVB" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Bๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009662http://purl.obolibrary.org/obo/MONDO_0009660
+ skos:prefLabel + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹" + @ja
- - + - + - + - + + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200115 +
http://nanbyodata.jp/ontology/NANDO_1200108 (rdf:type owl:Class @@ -11742,37 +13829,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200115NANDO:1200108
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-16-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-14-201704-kojin.pdf
rdfs:label - "Hyaluronidase deficiency" + "Maroteaux-Lamy syndrome" @en
rdfs:label - "ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "ใพใ‚ใจใƒผใƒปใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3916http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2647
@@ -11782,44 +13876,65 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
skos:altLabel - "Mucopolysaccharidosis type 9" + "MPSVI" @en
skos:altLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡IXๅž‹ " + "Maroteaux-Lamy disease" + @en
+ skos:altLabel + "Maroteaux-Lamy็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "Mucopolysaccharidosis type VI" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011093http://purl.obolibrary.org/obo/MONDO_0009661
skos:prefLabel - "ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค" @ja
- - + - + - + - + + "ใพใ‚ใจใƒผใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - + - - + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200116 +
http://nanbyodata.jp/ontology/NANDO_1200109 (rdf:type owl:Class @@ -11827,42 +13942,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200116NANDO:1200109
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-17-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-14-201704-kojin.pdf
rdfs:label - "Sialidosis" + "Maroteaux Lamy syndrome, rapidly progressing form" @en
rdfs:label - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2716 + rdfs:label + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00142http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2647
@@ -11872,35 +13989,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200108
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009738 + skos:altLabel + "MPS VI" + @en
+ skos:altLabel + "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" + @ja
+ skos:altLabel + "Mucopolysaccharidosis type VI" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ ๏ผˆ้‡็—‡ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017734http://purl.obolibrary.org/obo/MONDO_0009661
skos:prefLabel - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰" @ja
- - + - + - + - + + + + + - + - + - + - - + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200117 +
http://nanbyodata.jp/ontology/NANDO_1200110 (rdf:type owl:Class @@ -11908,37 +14048,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200117NANDO:1200110
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-17-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-14-201704-kojin.pdf
rdfs:label - "Sialidosis type 1" + "Maroteaux Lamy syndrome, slowly progressing form" @en
rdfs:label - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ… ๅž‹๏ผ‰" + "ใพใ‚ใจใƒผใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2716http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2647
@@ -11948,35 +14095,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200116http://nanbyodata.jp/ontology/NANDO_1200108
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009738 + skos:altLabel + "MPS VI" + @en
+ skos:altLabel + "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + @ja
+ skos:altLabel + "Mucopolysaccharidosis type VI" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019346http://purl.obolibrary.org/obo/MONDO_0009661
skos:prefLabel - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ… ๅž‹๏ผ‰" + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" @ja
- - + - + - + - + + + + + - + - + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200118 +
http://nanbyodata.jp/ontology/NANDO_1200111 (rdf:type owl:Class @@ -11984,37 +14154,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200118NANDO:1200111
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-17-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdf
rdfs:label - "Sialidosis type 2" + "Sly syndrome" @en
rdfs:label - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ…กๅž‹๏ผ‰" + "Sly็—…" @ja
+ rdfs:label + "ใ™ใ‚‰ใ„ใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2716http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2648
@@ -12024,30 +14201,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200116http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "MPS VII" + @en
+ skos:altLabel + "Sly disease" + @en
+ skos:altLabel + "mucopolysaccharidosis type VII" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009738http://purl.obolibrary.org/obo/MONDO_0009662
skos:prefLabel - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ…กๅž‹๏ผ‰" + "Sly็—…" @ja
- - + - + - + - + - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200119 +
http://nanbyodata.jp/ontology/NANDO_1200112 (rdf:type owl:Class @@ -12055,42 +14260,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200119NANDO:1200112
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdf
rdfs:label - "Galactosialidosis" + "Sly syndrome, neonatal form" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + "Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2723 + rdfs:label + "ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใ—ใ‚“ใ›ใ„ใ˜ใŒใŸ๏ผ‰" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00276http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2648
@@ -12100,30 +14307,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200111
+ skos:altLabel + "neonatal form of MPS-VII" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009737http://purl.obolibrary.org/obo/MONDO_0009662
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + "Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰" @ja
- - + - + - + - + + + + + @@ -12166,25 +14394,39 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200120 +
http://nanbyodata.jp/ontology/NANDO_1200113 (rdf:type owl:Class @@ -12131,34 +14352,41 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200120NANDO:1200113
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdf
rdfs:label - "Early-infantile galactosialidosis" + "Sly syndrome, intermediate form" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹๏ผ‰" + "Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰" @ja
+ rdfs:label + "ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใกใ‚…ใ†ใ‹ใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200119http://nanbyodata.jp/ontology/NANDO_1200111
+ skos:altLabel + "intermediate form of MPS 7" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆไธญ้–“ๅž‹๏ผ‰" + @ja
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹๏ผ‰" + "Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰" @ja
- - + - + - + - + + + + + @@ -12227,25 +14476,39 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200121 +
http://nanbyodata.jp/ontology/NANDO_1200114 (rdf:type owl:Class @@ -12192,34 +14434,41 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200121NANDO:1200114
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-15-201704-kojin.pdf
rdfs:label - "Late infantile galactosialidosis" + "Sly syndrome, mild form" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ™ฉๆœŸไนณๅ…ๅž‹๏ผ‰" + "Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" @ja
+ rdfs:label + "ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰" + @ja-Hira
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200119http://nanbyodata.jp/ontology/NANDO_1200111
+ skos:altLabel + "mild form of MPS VII" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + @ja
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ™ฉๆœŸไนณๅ…ๅž‹๏ผ‰" + "Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" @ja
- - + - + - + - + + + + + + + + + @@ -12288,25 +14563,44 @@

- + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200122 +
http://nanbyodata.jp/ontology/NANDO_1200115 (rdf:type owl:Class @@ -12253,34 +14516,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200122NANDO:1200115
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-16-201704-kojin.pdf
rdfs:label - "Juvenile/adult galactosialidosis" + "Hyaluronidase deficiency" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅŠใณๆˆไบบๅž‹๏ผ‰" + "ใฒใ‚ใ‚‹ใ‚ใซใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3916
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200119http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "Mucopolysaccharidosis Type IX" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IXๅž‹ " + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011093
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅŠใณๆˆไบบๅž‹๏ผ‰" + "ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - + - + - + + + + + + + + + + + + + @@ -12349,25 +14660,30 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200123 +
http://nanbyodata.jp/ontology/NANDO_1200116 (rdf:type owl:Class @@ -12314,34 +14608,51 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200123NANDO:1200116
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-19-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-17-201704-kojin.pdf
rdfs:label - "Mucolipidosis Type II,III" + "Sialidosis" @en
rdfs:label - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹" + "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200556
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00142
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017734
skos:prefLabel - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹" + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200124 +
http://nanbyodata.jp/ontology/NANDO_1200117 (rdf:type owl:Class @@ -12375,37 +14691,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200124NANDO:1200117
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-19-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-17-201704-kojin.pdf
rdfs:label - "Mucolipidosis Type II" + "Sialidosis type 1" @en
rdfs:label - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" + "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2636http://nanbyodata.jp/ontology/NANDO_2201191
@@ -12415,30 +14738,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200123http://nanbyodata.jp/ontology/NANDO_1200116
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009650http://purl.obolibrary.org/obo/MONDO_0019346
skos:prefLabel - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹" @ja
- - + - + - + - + + + + + - + + + + + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200125 +
http://nanbyodata.jp/ontology/NANDO_1200118 (rdf:type owl:Class @@ -12446,37 +14769,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200125NANDO:1200118
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-19-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-17-201704-kojin.pdf
rdfs:label - "Mucolipidosis Type III" + "Sialidosis type 2" @en
rdfs:label - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹" + "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2637http://nanbyodata.jp/ontology/NANDO_2201192
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2724
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2725
@@ -12486,30 +14826,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200123http://nanbyodata.jp/ontology/NANDO_1200116
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018931http://purl.obolibrary.org/obo/MONDO_0009738
skos:prefLabel - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹" + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
- - + - + - + - + + + + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200126 +
http://nanbyodata.jp/ontology/NANDO_1200119 (rdf:type owl:Class @@ -12517,42 +14857,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200126NANDO:1200119
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-20-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdf
rdfs:label - "Alpha-mannosidosis" + "Galactosialidosis" @en
rdfs:label - "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2546http://nanbyodata.jp/ontology/NANDO_2200557
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00139http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2723
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00276
@@ -12562,30 +14914,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009561http://purl.obolibrary.org/obo/MONDO_0009737
skos:prefLabel - "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + - - - - - - - - - + - - - - -
http://nanbyodata.jp/ontology/nando#1200127 +
http://nanbyodata.jp/ontology/NANDO_1200120 (rdf:type owl:Class @@ -12593,98 +14945,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200127NANDO:1200120
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-20-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdf
rdfs:label - "Alpha-mannosidosis, infantile form" + "Galactosialidosis, early infantile form" @en
rdfs:label - "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" + "ใ—ใ‚“ใ›ใ„ใ˜ใŠใ‚ˆใณใใ†ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docxhttp://nanbyodata.jp/ontology/NANDO_2201193
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200126
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017732http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2724
- skos:prefLabel - "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" - @ja
- - - - - - - - - - - - - - - - - - - - - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200128 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200128
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-20-201704-kojin.pdf
- rdfs:label - "Alpha-mannosidosis, adult form" - @en
- rdfs:label - "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๆˆไบบๅž‹๏ผ‰" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2725
@@ -12694,30 +15002,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200126http://nanbyodata.jp/ontology/NANDO_1200119
+ skos:altLabel + "Sialidosis type II" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017733http://purl.obolibrary.org/obo/MONDO_0009738
skos:prefLabel - "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๆˆไบบๅž‹๏ผ‰" + "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + "ใฐใ‚“ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200129 +
http://nanbyodata.jp/ontology/NANDO_1200121 (rdf:type owl:Class @@ -12725,42 +15040,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200129NANDO:1200121
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-21-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdf
rdfs:label - "Beta-mannosidosis" + "Galactosialidosis, late infantile form" @en
rdfs:label - "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2547 + rdfs:label + "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00140http://nanbyodata.jp/ontology/NANDO_2201194
@@ -12770,30 +15087,25 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009562http://nanbyodata.jp/ontology/NANDO_1200119
skos:prefLabel - "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200130 +
http://nanbyodata.jp/ontology/NANDO_1200122 (rdf:type owl:Class @@ -12801,37 +15113,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200130NANDO:1200122
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-22-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-18-201704-kojin.pdf
rdfs:label - "Fucosidosis" + "Galactosialidosis, juvenile/adult form" @en
rdfs:label - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใ˜ใ‚ƒใใญใ‚“ใŠใ‚ˆใณใ›ใ„ใ˜ใ‚“ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2242http://nanbyodata.jp/ontology/NANDO_2201195
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2723
@@ -12841,30 +15165,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200119
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009254http://purl.obolibrary.org/obo/MONDO_0009737
skos:prefLabel - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200131 +
http://nanbyodata.jp/ontology/NANDO_1200123 (rdf:type owl:Class @@ -12872,92 +15196,38 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200131NANDO:1200123
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-22-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-19-201704-kojin.pdf
rdfs:label - "Fucosidosis type 1" + "Mucolipidosis II, III" @en
rdfs:label - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200130
- skos:prefLabel - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" - @ja
- - - - - - - - - - - - - - - - - - + "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ,3ใŒใŸ" + @ja-Hira @@ -12968,25 +15238,25 @@

- + - +
http://nanbyodata.jp/ontology/nando#1200132 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200132
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-22-201704-kojin.pdf
- rdfs:label - "Fucosidosis type 2" - @en
rdfs:label - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200130http://nanbyodata.jp/ontology/NANDO_1200055
skos:prefLabel - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹" @ja
- - + - + - + - + + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200133 +
http://nanbyodata.jp/ontology/NANDO_1200124 (rdf:type owl:Class @@ -12994,42 +15264,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200133NANDO:1200124
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-23-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-19-201704-kojin.pdf
rdfs:label - "Aspartylglucosaminuria" + "Mucolipidosis II" @en
rdfs:label - "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" + "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1801http://nanbyodata.jp/ontology/NANDO_2200567
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00145http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2636
@@ -13039,30 +15316,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200123
+ skos:altLabel + "I-cell disease" + @en
+ skos:altLabel + "I-cell็—…" + @ja
+ skos:altLabel + "ML II" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008830http://purl.obolibrary.org/obo/MONDO_0009650
skos:prefLabel - "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
- - + - + - + - + + + + + + + + + @@ -13105,30 +15415,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200134 +
http://nanbyodata.jp/ontology/NANDO_1200125 (rdf:type owl:Class @@ -13070,34 +15368,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200134NANDO:1200125
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-19-201704-kojin.pdf
rdfs:label - "Schindler disease" + "Mucolipidosis III" @en
rdfs:label - "Schindler็—…" + "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200568
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200123
+ skos:altLabel + "ML III" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017779http://purl.obolibrary.org/obo/MONDO_0018931
skos:prefLabel - "Schindler็—…" + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹" @ja
- - + - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200135 +
http://nanbyodata.jp/ontology/NANDO_1200126 (rdf:type owl:Class @@ -13136,37 +15453,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200135NANDO:1200126
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-20-201704-kojin.pdf
rdfs:label - "Schindler disease type 1" + "Alpha-mannosidosis" @en
rdfs:label - "Schindler็—…Iๅž‹" + "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:label + "ใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6520http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2546
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00139
@@ -13176,30 +15505,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200134http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "ฮฑ-Mannosidosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012221http://purl.obolibrary.org/obo/MONDO_0009561
skos:prefLabel - "Schindler็—…Iๅž‹" + "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200136 +
http://nanbyodata.jp/ontology/NANDO_1200127 (rdf:type owl:Class @@ -13207,37 +15543,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200136NANDO:1200127
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-20-201704-kojin.pdf
rdfs:label - "Schindler disease type 2" + "Alpha-mannosidosis, infantile form" @en
rdfs:label - "Schindler็—…IIๅž‹" + "ใซใ‚…ใ†ใ˜ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6521http://nanbyodata.jp/ontology/NANDO_2201188
@@ -13247,37 +15590,49 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200134http://nanbyodata.jp/ontology/NANDO_1200126
skos:altLabel - "็ฅžๅดŽ็—…" + "alpha-mannosidosis, type I" + @en
+ skos:altLabel + "ไนณๅ…ๅž‹๏ผˆtype I๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012222http://purl.obolibrary.org/obo/MONDO_0017732
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022424
skos:prefLabel - "Schindler็—…IIๅž‹" + "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200137 +
http://nanbyodata.jp/ontology/NANDO_1200128 (rdf:type owl:Class @@ -13285,37 +15640,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200137NANDO:1200128
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-20-201704-kojin.pdf
rdfs:label - "Schindler disease type 3" + "Alpha-mannosidosis, adult form" @en
rdfs:label - "Schindler็—…IIIๅž‹" + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ˜ใ‚“ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6520http://nanbyodata.jp/ontology/NANDO_2201189
@@ -13325,35 +15687,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200134http://nanbyodata.jp/ontology/NANDO_1200126
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012221 + skos:altLabel + "่‹ฅๅนดๆˆไบบๅž‹๏ผˆtype II๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019264http://purl.obolibrary.org/obo/MONDO_0017733
skos:prefLabel - "Schindler็—…IIIๅž‹" + "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + + + + + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200138 +
http://nanbyodata.jp/ontology/NANDO_1200129 (rdf:type owl:Class @@ -13361,37 +15725,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200138NANDO:1200129
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-21-201704-kojin.pdf
rdfs:label - "Pompe disease" + "Beta-mannosidosis" @en
rdfs:label - "Pompe็—…" + "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:label + "ในใƒผใŸใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2277http://nanbyodata.jp/ontology/NANDO_2201190
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2547
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00140
@@ -13401,30 +15782,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "ฮฒ-mannosidosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009290http://purl.obolibrary.org/obo/MONDO_0009562
skos:prefLabel - "Pompe็—…" + "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200139 +
http://nanbyodata.jp/ontology/NANDO_1200130 (rdf:type owl:Class @@ -13432,93 +15820,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200139NANDO:1200130
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-22-201704-kojin.pdf
rdfs:label - "Classic infantile-onset Pompe disease" + "Fucosidosis" @en
rdfs:label - "Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰" + "ใตใ“ใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docxhttp://nanbyodata.jp/ontology/NANDO_2200553
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200138
- skos:prefLabel - "Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰" - @ja
- - - - - - - - - - - - - - - - - - + - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200140 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200140
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdf
- rdfs:label - "Non-classic infantile-onset Pompe disease" - @enhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2242
- rdfs:label - "Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰" - @ja + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00141
@@ -13528,25 +15877,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200138http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009254
skos:prefLabel - "Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰" + "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200141 +
http://nanbyodata.jp/ontology/NANDO_1200131 (rdf:type owl:Class @@ -13554,98 +15908,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200141NANDO:1200131
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-22-201704-kojin.pdf
rdfs:label - "Late-onset Pompe disease" + "Fucosidosis, infantile form" @en
rdfs:label - "Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200138
- skos:prefLabel - "Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰" - @ja
- - - - - - - - - - - - - - + "ใซใ‚…ใ†ใ˜ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™" + @ja-Hira + "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + @ja - - + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200142 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200142
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-26-201704-kojin.pdf
rdfs:label - "Lysosomal acid lipase deficiency" - @en
- rdfs:label - "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" - @ja + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201186
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3190http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2242
@@ -13655,35 +15960,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200130
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010204 + skos:altLabel + "Fucosidosis type I" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019148http://purl.obolibrary.org/obo/MONDO_0009254
skos:prefLabel - "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" + "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + - + - - - - - + - - + +
http://nanbyodata.jp/ontology/nando#1200143 +
http://nanbyodata.jp/ontology/NANDO_1200132 (rdf:type owl:Class @@ -13691,37 +15998,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200143NANDO:1200132
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-26-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-22-201704-kojin.pdf
rdfs:label - "Wolman disease" + "Fucosidosis, milder form" @en
rdfs:label - "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…" + "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3190http://nanbyodata.jp/ontology/NANDO_2201187
@@ -13731,35 +16045,32 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200142
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010204http://nanbyodata.jp/ontology/NANDO_1200130
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019148 + skos:altLabel + "Fucosidosis Type II" + @en
skos:prefLabel - "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…" + "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + + + + + + + + + + + + + @@ -13802,30 +16135,30 @@

- + - + - +
http://nanbyodata.jp/ontology/nando#1200144 +
http://nanbyodata.jp/ontology/NANDO_1200133 (rdf:type owl:Class @@ -13767,34 +16078,56 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200144NANDO:1200133
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-26-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-23-201704-kojin.pdf
rdfs:label - "Cholesterol ester storage disease" + "Aspartylglucosaminuria" @en
rdfs:label - "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„่†ฟ็—‡" + "ใ‚ใ™ใฑใ‚‹ใกใ‚‹ใใ‚‹ใ“ใ•ใฟใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200555
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1801
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00145
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200142http://nanbyodata.jp/ontology/NANDO_1200055
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019149http://purl.obolibrary.org/obo/MONDO_0008830
skos:prefLabel - "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„่†ฟ็—‡" + "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" @ja
- - + - + - + - + - - - - + "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200145 +
http://nanbyodata.jp/ontology/NANDO_1200134 (rdf:type owl:Class @@ -13833,42 +16166,39 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200145NANDO:1200134
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-27-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdf
rdfs:label - "Danon disease" + "Schindler disease" @en
rdfs:label - "Danon็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3271
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00150 + rdfs:label + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…" + @ja
@@ -13878,30 +16208,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "Alpha-N-acetylgalactosaminidase deficiency" + @en
+ skos:altLabel + "NAGA deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010281http://purl.obolibrary.org/obo/MONDO_0017779
skos:prefLabel - "Danon็—…" + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…" @ja
- - + - + - + - + + + + + + + + + @@ -13944,30 +16300,51 @@

- + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200146 +
http://nanbyodata.jp/ontology/NANDO_1200135 (rdf:type owl:Class @@ -13909,34 +16253,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200146NANDO:1200135
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdf
rdfs:label - "Free sialic acid storage disease" + "Schindler disease type I" @en
rdfs:label - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…Iๅž‹" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6520
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200134
+ skos:altLabel + "Alpha-N-acetylgalactosaminidase deficiency type 1" + @en
+ skos:altLabel + "NAGA deficiency type 1" + @en
+ skos:altLabel + "Schindler็—…Iๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019366http://purl.obolibrary.org/obo/MONDO_0012221
skos:prefLabel - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…Iๅž‹" @ja
- - + - + - + - + + + + + - + - + - + - - - - + "NAGA deficiency type 2" + @en - + - -
http://nanbyodata.jp/ontology/nando#1200147 +
http://nanbyodata.jp/ontology/NANDO_1200136 (rdf:type owl:Class @@ -13975,37 +16352,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200147NANDO:1200136
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdf
rdfs:label - "Free sialic acid storage disease, infantile form" + "Schindler disease type 2" @en
rdfs:label - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไนณๅ…ๅž‹๏ผ‰" + "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3009http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6521
@@ -14015,117 +16399,65 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200146http://nanbyodata.jp/ontology/NANDO_1200134
skos:altLabel - "ISSD" + "Alpha-N-acetylgalactosaminidase deficiency type 2" @en
skos:altLabel - "infantileย sialicย acid storage disease" + "Kanzaki disease" @en
skos:altLabel - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ้‡็—‡ๅž‹๏ผ‰" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010027
- skos:prefLabel + skos:altLabel - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไนณๅ…ๅž‹๏ผ‰" + "Schindler็—…IIๅž‹" @ja
- - - - - - - - - - - - - - - - - - - - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200148 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber19
- dcterms:identifier1200148
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdf
- rdfs:label - "intermediate severe Salla disease" - @en
- rdfs:label + skos:altLabel - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰" + "็ฅžๅดŽ็—…" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200146
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017737http://purl.obolibrary.org/obo/MONDO_0012222
skos:prefLabel - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰" + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIๅž‹" @ja
- - + - + - + - + + + + + @@ -14168,32 +16507,51 @@

- + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200149 +
http://nanbyodata.jp/ontology/NANDO_1200137 (rdf:type owl:Class @@ -14133,31 +16465,38 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200149NANDO:1200137
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-24-201704-kojin.pdf
rdfs:label - "Salla disaese" + "Schindler disease type 3" @en
rdfs:label - "ใ‚ตใƒฉ็—…" + "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIIๅž‹" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200146http://nanbyodata.jp/ontology/NANDO_1200134
skos:altLabel - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + "Alpha-N-acetylgalactosaminidase deficiency type 3" + @en
+ skos:altLabel + "NAGA deficiency type 3" + @en
+ skos:altLabel + "Schindler็—…IIIๅž‹" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019264
skos:prefLabel - "ใ‚ตใƒฉ็—…" + "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIIๅž‹" @ja
- - + - + - + - + + + + + + + + + @@ -14236,30 +16606,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200150 +
http://nanbyodata.jp/ontology/NANDO_1200138 (rdf:type owl:Class @@ -14201,34 +16559,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200150NANDO:1200138
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdf
rdfs:label - "Neuronalย Ceroid Lipofuscinosis" + "Pompe disease" @en
rdfs:label - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น" + "ใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒใƒณใบ็—…" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2277
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "Pompe็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016295http://purl.obolibrary.org/obo/MONDO_0009290
skos:prefLabel - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น" + "ใƒใƒณใบ็—…" @ja
- - + - + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200151 +
http://nanbyodata.jp/ontology/NANDO_1200139 (rdf:type owl:Class @@ -14267,37 +16644,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200151NANDO:1200139
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdf
rdfs:label - "Congenital neuronal ceroid lipofuscinosis" + "Classic infantile Pompe disease" @en
rdfs:label - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๅ…ˆๅคฉๅž‹๏ผ‰" + "ใซใ‚…ใ†ใ˜ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1933http://nanbyodata.jp/ontology/NANDO_2201229
@@ -14307,30 +16691,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200150http://nanbyodata.jp/ontology/NANDO_1200138
+ skos:altLabel + "Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008956http://purl.obolibrary.org/obo/MONDO_0017694
skos:prefLabel - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๅ…ˆๅคฉๅž‹๏ผ‰" + "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…" @ja
- - + - + - + - + + + + + - + - + - + - - - - - - + +
http://nanbyodata.jp/ontology/nando#1200152 +
http://nanbyodata.jp/ontology/NANDO_1200140 (rdf:type owl:Class @@ -14338,37 +16729,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200152NANDO:1200140
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdf
rdfs:label - "Infantile neuronal ceroid lipofuscinosis" + "Childhood-onset Pompe disease" @en
rdfs:label - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" + "ใ—ใ‚‡ใ†ใซใŒใŸใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2731http://nanbyodata.jp/ontology/NANDO_2201230
@@ -14378,35 +16776,32 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200150http://nanbyodata.jp/ontology/NANDO_1200138
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009744
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019261 + skos:altLabel + "Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰" + @ja
skos:prefLabel - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰" + "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…" @ja
- - + - + - + - + + + + + - + - + - + - - - - - - + +
http://nanbyodata.jp/ontology/nando#1200153 +
http://nanbyodata.jp/ontology/NANDO_1200141 (rdf:type owl:Class @@ -14414,37 +16809,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200153NANDO:1200141
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-25-201704-kojin.pdf
rdfs:label - "Late infantile neuronal ceroid lipofuscinosis" + "Adult-onset Pompe disease" @en
rdfs:label - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้…็™บไนณๅ…ๅž‹๏ผ‰" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹ใƒใƒณใƒš็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1740http://nanbyodata.jp/ontology/NANDO_2201231
@@ -14454,35 +16856,32 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200150http://nanbyodata.jp/ontology/NANDO_1200138
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008769
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015674 + skos:altLabel + "Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰" + @ja
skos:prefLabel - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้…็™บไนณๅ…ๅž‹๏ผ‰" + "ๆˆไบบๅž‹ใƒใƒณใƒš็—…" @ja
- - + - + - + - + + + + + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200154 +
http://nanbyodata.jp/ontology/NANDO_1200142 (rdf:type owl:Class @@ -14490,37 +16889,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200154NANDO:1200142
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-26-201704-kojin.pdf
rdfs:label - "Juvenile neuronal ceroid lipofuscinosis" + "Acid lipase deficiency" @en
rdfs:label - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + "ใ•ใ‚“ใ›ใ„ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1738http://nanbyodata.jp/ontology/NANDO_2200570
@@ -14530,35 +16936,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200150http://nanbyodata.jp/ontology/NANDO_1200055
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008767 + skos:altLabel + "Cholesteryl ester storage disease and Wolman disease" + @en
+ skos:altLabel + "Wolman disease and cholesterol ester storage disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019262http://purl.obolibrary.org/obo/MONDO_0019148
skos:prefLabel - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰" + "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - + - + - + + + + + + + + + @@ -14601,30 +17028,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200155 +
http://nanbyodata.jp/ontology/NANDO_1200143 (rdf:type owl:Class @@ -14566,34 +16981,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200155NANDO:1200143
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-26-201704-kojin.pdf
rdfs:label - "Adult neuronal ceroid lipofuscinosis" + "Wolman disease" @en
rdfs:label - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰" + "ใ†ใ‰ใ‚‹ใพใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201232
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200150http://nanbyodata.jp/ontology/NANDO_1200142
+ skos:altLabel + "Wolman็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019260http://purl.obolibrary.org/obo/MONDO_0019148
skos:prefLabel - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰" + "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…" @ja
- - + - + - + - + + + + + + + + + @@ -14667,25 +17113,37 @@

- + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200156 +
http://nanbyodata.jp/ontology/NANDO_1200144 (rdf:type owl:Class @@ -14632,34 +17066,46 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200156NANDO:1200144
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-26-201704-kojin.pdf
rdfs:label - "Atypical neuronal ceroid-lipofuscinosis" + "Cholesterol ester storage disease" @en
rdfs:label - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰" + "ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใˆใ™ใฆใ‚‹ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201233
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200150http://nanbyodata.jp/ontology/NANDO_1200142
+ skos:altLabel + "CESD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019149
skos:prefLabel - "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰" + "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡" @ja
- - + - + - + - + + + + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200157 +
http://nanbyodata.jp/ontology/NANDO_1200145 (rdf:type owl:Class @@ -14693,42 +17151,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200157NANDO:1200145
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-27-201704-kojin.pdf
rdfs:label - "Fabry disease" + "Danon disease" @en
rdfs:label - "Fabry็—…" + "ใ ใฎใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ€ใƒŽใƒณ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339http://nanbyodata.jp/ontology/NANDO_1200222
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00125http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3271
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00150
@@ -14738,30 +17208,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "Danon็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010526http://purl.obolibrary.org/obo/MONDO_0010281
skos:prefLabel - "Fabry็—…" + "ใƒ€ใƒŽใƒณ็—…" @ja
- - + - + - + - + + "Free sialic acid storage disease" + @en + "ใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200158 +
http://nanbyodata.jp/ontology/NANDO_1200146 (rdf:type owl:Class @@ -14769,32 +17246,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200158NANDO:1200146
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdf
rdfs:label - "Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰" - @ja
rdfs:label - "type 1 Fabry disease" - @en
+ rdfs:label + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200572
@@ -14804,32 +17293,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200157http://nanbyodata.jp/ontology/NANDO_1200055
- skos:altLabel - "classic Fabry disease" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019366
skos:prefLabel - "Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰" + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
- - + - + - + - + + "Infantile free sialic acid storage disease" + @en + "ใซใ‚…ใ†ใ˜ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200159 +
http://nanbyodata.jp/ontology/NANDO_1200147 (rdf:type owl:Class @@ -14837,32 +17324,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200159NANDO:1200147
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdf
rdfs:label - "Fabry็—…๏ผˆไบœๅž‹๏ผ‰" - @ja
rdfs:label - "type 2 Fabry disease" - @en
+ rdfs:label + "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201237
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3009
@@ -14872,32 +17376,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200157http://nanbyodata.jp/ontology/NANDO_1200146
skos:altLabel - "late onset Fabry disease" + "ISSD" @en
+ skos:altLabel + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ้‡็—‡ๅž‹๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010027
skos:prefLabel - "Fabry็—…๏ผˆไบœๅž‹๏ผ‰" + "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
- - + - + - + - + + "Intermediate severe Salla disease" + @en + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200160 +
http://nanbyodata.jp/ontology/NANDO_1200148 (rdf:type owl:Class @@ -14905,32 +17421,44 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200160NANDO:1200148
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdf
rdfs:label - "Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰" - @ja
rdfs:label - "heterozygous Fabry disease" - @en
+ rdfs:label + "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201238
@@ -14940,25 +17468,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200157http://nanbyodata.jp/ontology/NANDO_1200146
+ skos:altLabel + "้‡็—‡Salla็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017737
skos:prefLabel - "Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰" + "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
- - + - + - + - + + + + + - + + + + + + + + + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200161 +
http://nanbyodata.jp/ontology/NANDO_1200149 (rdf:type owl:Class @@ -14966,37 +17506,54 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200161NANDO:1200149
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-28-201704-kojin.pdf
rdfs:label - "Cystinosis" + "Salla disease" @en
rdfs:label - "ใ‚ทใ‚นใƒใƒณ็—‡" + "ใ•ใ‚‰ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒฉ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00275http://nanbyodata.jp/ontology/NANDO_1200582
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201294
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4251
@@ -15006,30 +17563,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200055http://nanbyodata.jp/ontology/NANDO_1200146
+ skos:altLabel + "SD" + @en
+ skos:altLabel + "Salla็—…" + @ja
+ skos:altLabel + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016239http://purl.obolibrary.org/obo/MONDO_0011449
skos:prefLabel - "ใ‚ทใ‚นใƒใƒณ็—‡" + "ใ‚ตใƒฉ็—…" @ja
- - + - + - + - + + + + + @@ -15072,30 +17657,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200162 +
http://nanbyodata.jp/ontology/NANDO_1200150 (rdf:type owl:Class @@ -15037,31 +17615,38 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200162NANDO:1200150
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdf
rdfs:label - "Nephropathic infantile cystinosis" + "Neuronal ceroid-lipofuscinosis" @en
rdfs:label - "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ่…Žๅž‹๏ผ‰" + "ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใฎใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200161http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "NCL" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018467http://purl.obolibrary.org/obo/MONDO_0016295
skos:prefLabel - "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ่…Žๅž‹๏ผ‰" + "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น" @ja
- - + - + - + - + + + + + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200163 +
http://nanbyodata.jp/ontology/NANDO_1200151 (rdf:type owl:Class @@ -15103,37 +17695,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200163NANDO:1200151
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdf
rdfs:label - "Juvenile nephropathic cystinosis" + "Congenital neuronal ceroid lipofuscinosis" @en
rdfs:label - "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰" + "ใ›ใ‚“ใฆใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2046http://nanbyodata.jp/ontology/NANDO_2201240
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1933
@@ -15143,30 +17747,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200161http://nanbyodata.jp/ontology/NANDO_1200150
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009066http://purl.obolibrary.org/obo/MONDO_0008956
skos:prefLabel - "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰" + "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - + - + - + + + + + - + + + + + - + - + + "CLN1" + @en + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200164 +
http://nanbyodata.jp/ontology/NANDO_1200152 (rdf:type owl:Class @@ -15174,37 +17778,49 @@

hasNotificationNumberhasNotificationNumber 19
dcterms:identifier1200164NANDO:1200152
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdf
rdfs:label - "Ocular cystinosis" + "Infantile neuronal ceroid lipofuscinosis" @en
rdfs:label - "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ้ž่…Žๅž‹๏ผ‰" + "ใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2044http://nanbyodata.jp/ontology/NANDO_2201241
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2731
@@ -15214,37 +17830,56 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4063https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200161http://nanbyodata.jp/ontology/NANDO_1200150
skos:altLabel - "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ็œผๅž‹๏ผ‰" - @ja
+ skos:altLabel + "INCL" + @en
+ skos:altLabel + "Infantile Batten disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009064http://purl.obolibrary.org/obo/MONDO_0009744
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019261
skos:prefLabel - "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ้ž่…Žๅž‹๏ผ‰" + "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + + + + + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200165 +
http://nanbyodata.jp/ontology/NANDO_1200153 (rdf:type owl:Class @@ -15252,87 +17887,108 @@

hasNotificationNumber20
- dcterms:description - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅ‰ฏ่…Žไธๅ…จใจไธญๆžข็ฅž็ตŒ็ณปใฎ่„ฑ้ซ„ใ‚’ไธปไฝ“ใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งๅฝขๅผใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ๅคง่„ณๅž‹ใ€ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ใ€ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผˆadrenomyeloneuropathy๏ผšAMN๏ผ‰ใ€ๆˆไบบๅคง่„ณๅž‹ใ€ๅฐ่„ณใƒป่„ณๅนนๅž‹ใ€ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ใ€ๅฅณๆ€ง็™บ็—‡่€…ใชใฉใฎ่‡จๅบŠ็—…ๅž‹ใŒๅญ˜ๅœจใ—ใ€ๅ„ใ€…ใฎ่‡จๅบŠ็ตŒ้Žใ€ไบˆๅพŒใฏ็•ฐใชใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใ ใ‘ใงใชใใ€ใปใจใ‚“ใฉใฎ็ต„็น”ใ‚„่ก€ๆผฟใ€่ตค่ก€็ƒ่†œใ€็™ฝ่ก€็ƒใชใฉใซใŠใ„ใฆๆฅต้•ท้Ž–่„‚่‚ช้…ธใฎๅข—ๅŠ ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber19
dcterms:identifier1200165NANDO:1200153
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdf
rdfs:label - "Adrenoleukodystrophy" + "Late infantile neuronal ceroid lipofuscinosis" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใกใฏใคใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3238http://nanbyodata.jp/ontology/NANDO_2201242
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00176http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1740
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200150
+ skos:altLabel + "CLN2" + @en
+ skos:altLabel + "Jansky-Bielschowsky disease" + @en
+ skos:altLabel + "LINCL" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010247http://purl.obolibrary.org/obo/MONDO_0008769
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018544http://purl.obolibrary.org/obo/MONDO_0015674
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200166 +
http://nanbyodata.jp/ontology/NANDO_1200154 (rdf:type owl:Class @@ -15340,60 +17996,112 @@

hasNotificationNumber20hasNotificationNumber19
dcterms:identifier1200166NANDO:1200154
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdf
rdfs:label - "Childhood X-linked Adrenoleukodystrophy" + "Juvenile neuronal ceroid lipofuscinosis" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰" + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttp://nanbyodata.jp/ontology/NANDO_2201243
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200165http://nanbyodata.jp/ontology/NANDO_1200150
+ skos:altLabel + "Batten disease" + @en
+ skos:altLabel + "Batten็—…" + @ja
+ skos:altLabel + "JNCL" + @en
+ skos:altLabel + "NCL3" + @en
+ skos:altLabel + "Spielmeyer-Vogt-Sjogren disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019262
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰" + "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200167 +
http://nanbyodata.jp/ontology/NANDO_1200155 (rdf:type owl:Class @@ -15401,60 +18109,105 @@

hasNotificationNumber20hasNotificationNumber19
dcterms:identifier1200167NANDO:1200155
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdf
rdfs:label - "Adolescent-onset X-linkedย Adrenoleukodystrophy" + "Adult neuronal ceroid lipofuscinosis" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttp://nanbyodata.jp/ontology/NANDO_2201244
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200165http://nanbyodata.jp/ontology/NANDO_1200150
+ skos:altLabel + "ANCL" + @en
+ skos:altLabel + "CLN4" + @en
+ skos:altLabel + "Kufs disease" + @en
+ skos:altLabel + "Kufs' disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019260
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰" + "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + "ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใฎใƒผใ—ใ™๏ผˆใฒใฆใ„ใ‘ใ„ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200168 +
http://nanbyodata.jp/ontology/NANDO_1200156 (rdf:type owl:Class @@ -15462,82 +18215,72 @@

hasNotificationNumber20hasNotificationNumber19
dcterms:identifier1200168NANDO:1200156
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-29-201704-kojin.pdf
rdfs:label - "adrenomyeloneuropathy" + "Atypical neuronal-ceroid lipofuscinosis" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผ‰" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3238 + rdfs:label + "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200165
- skos:altLabel - "AMN" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010247http://nanbyodata.jp/ontology/NANDO_1200150
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015339http://purl.obolibrary.org/obo/MONDO_0016295
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผ‰" + "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200169 +
http://nanbyodata.jp/ontology/NANDO_1200157 (rdf:type owl:Class @@ -15545,60 +18288,94 @@

hasNotificationNumber20hasNotificationNumber19
dcterms:identifier1200169NANDO:1200157
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdf
rdfs:label - "Adult-onset adrenoleukodystrophy" + "Fabry disease" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰" + "ใตใใถใ‚Šใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttp://nanbyodata.jp/ontology/NANDO_2200563
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00125
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200165http://nanbyodata.jp/ontology/NANDO_1200055
+ skos:altLabel + "Fabry็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010526
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰" + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200170 +
http://nanbyodata.jp/ontology/NANDO_1200158 (rdf:type owl:Class @@ -15606,60 +18383,103 @@

hasNotificationNumber20hasNotificationNumber19
dcterms:identifier1200170NANDO:1200158
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdf
rdfs:label - "Atypical X-linked adult adrenoleukodystrophy" + "Classical Fabry disease" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰" + "ใ“ใฆใ‚“ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttp://nanbyodata.jp/ontology/NANDO_2201213
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200165http://nanbyodata.jp/ontology/NANDO_1200157
+ skos:altLabel + "Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰" + @ja
+ skos:altLabel + "Type 1 Fabry disease" + @en
+ skos:altLabel + "classic Fabry disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010526
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰" + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200171 +
http://nanbyodata.jp/ontology/NANDO_1200159 (rdf:type owl:Class @@ -15667,75 +18487,96 @@

hasNotificationNumber20hasNotificationNumber19
dcterms:identifier1200171NANDO:1200159
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdf
rdfs:label - "Addison's Disease" + "Variant Fabry disease" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰" + "ใ‚ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400http://nanbyodata.jp/ontology/NANDO_2201214
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200165http://nanbyodata.jp/ontology/NANDO_1200157
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410 + skos:altLabel + "Fabry็—…๏ผˆไบœๅž‹๏ผ‰" + @ja
+ skos:altLabel + "late-onset Fabry disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015129http://purl.obolibrary.org/obo/MONDO_0010526
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰" + "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200172 +
http://nanbyodata.jp/ontology/NANDO_1200160 (rdf:type owl:Class @@ -15743,60 +18584,79 @@

hasNotificationNumber20hasNotificationNumber19
dcterms:identifier1200172NANDO:1200160
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-30-201704-kojin.pdf
rdfs:label - "female adrenoleukodystrophy" + "Heterozygous Fabry disease" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰" + "ใตใใถใ‚Šใƒผใณใ‚‡ใ†ใ‘ใ‚“ใ›ใ„ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docxhttp://nanbyodata.jp/ontology/NANDO_2201215
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200165http://nanbyodata.jp/ontology/NANDO_1200157
+ skos:altLabel + "Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰" + @ja
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰" + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200173 +
http://nanbyodata.jp/ontology/NANDO_1200161 (rdf:type owl:Class @@ -15804,82 +18664,82 @@

hasNotificationNumber21
- dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ€่‡จๅบŠ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ—ใฆใ„ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใซๅŠ ใˆใฆใ€ๆดปๆ€ง้…ธ็ด ็”ฃ็”Ÿใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใ€ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณใฎ่ฒฏ่”ตใ€ๆ„ŸๆŸ“้˜ฒๅพกใชใฉใซใ‚‚้–ขใ‚ใฃใฆใ„ใ‚‹ใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใฏใ“ใ‚Œใ‚‰ใฎ็”Ÿ็‰ฉๅญฆ็š„ๆฉŸ่ƒฝใŒๅค‰ๅŒ–ใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็พๅœจใฎใจใ“ใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซใŠใ‘ใ‚‹ๆฉŸ่ƒฝ็•ฐๅธธใฎไธปไฝ“ใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌ้šœๅฎณใซใ‚ˆใ‚‹็—…ๆ…‹ใŒๅŸบๆœฌใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber19
dcterms:identifier1200173NANDO:1200161
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdf
rdfs:label - "Mitochondrial Diseases" + "Cystinosis" @en
rdfs:label - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + "ใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01427http://nanbyodata.jp/ontology/NANDO_2200571
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00275
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004069 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200055
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044970http://purl.obolibrary.org/obo/MONDO_0016239
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + "ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200174 +
http://nanbyodata.jp/ontology/NANDO_1200162 (rdf:type owl:Class @@ -15887,65 +18747,89 @@

hasNotificationNumber21hasNotificationNumber19
dcterms:identifier1200174NANDO:1200162
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdf
rdfs:label - "chronic progressive external ophthalmoplegia" + "Nephropathic cystinosis" @en
rdfs:label - "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค" + "ใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttp://nanbyodata.jp/ontology/NANDO_2201234
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200173http://nanbyodata.jp/ontology/NANDO_1200161
+ skos:altLabel + "Infantile nephropathic cystinosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018467
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005181http://purl.obolibrary.org/obo/MONDO_0100151
skos:prefLabel - "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค" + "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200175 +
http://nanbyodata.jp/ontology/NANDO_1200163 (rdf:type owl:Class @@ -15953,70 +18837,96 @@

hasNotificationNumber21hasNotificationNumber19
dcterms:identifier1200175NANDO:1200163
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdf
rdfs:label - "Leigh syndrome" + "Intermediate cystinosis" @en
rdfs:label - "ใƒชใƒผ่„ณ็—‡" + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2709http://nanbyodata.jp/ontology/NANDO_2201235
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2046
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200173http://nanbyodata.jp/ontology/NANDO_1200161
+ skos:altLabel + "Juvenile cystinosis" + @en
+ skos:altLabel + "Juvenile nephropathic cystinosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009723http://purl.obolibrary.org/obo/MONDO_0009066
skos:prefLabel - "ใƒชใƒผ่„ณ็—‡" + "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200176 +
http://nanbyodata.jp/ontology/NANDO_1200164 (rdf:type owl:Class @@ -16024,75 +18934,96 @@

hasNotificationNumber21hasNotificationNumber19
dcterms:identifier1200176NANDO:1200164
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/019-31-201704-kojin.pdf
rdfs:label - "MELAS" + "Non-nephropathic cystinosis " @en
rdfs:label - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค" + "ใฒใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3605http://nanbyodata.jp/ontology/NANDO_2201236
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01347http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2044
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157775.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.nanbyou.or.jp/entry/4061
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200173http://nanbyodata.jp/ontology/NANDO_1200161
+ skos:altLabel + "ocular cystinosis " + @en
+ skos:altLabel + "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ็œผๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010789http://purl.obolibrary.org/obo/MONDO_0009064
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค" + "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200177 +
http://nanbyodata.jp/ontology/NANDO_1200165 (rdf:type owl:Class @@ -16100,70 +19031,89 @@

hasNotificationNumber21hasNotificationNumber20
+ dcterms:description + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅ‰ฏ่…Žไธๅ…จใจไธญๆžข็ฅž็ตŒ็ณปใฎ่„ฑ้ซ„ใ‚’ไธปไฝ“ใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งๅฝขๅผใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ๅคง่„ณๅž‹ใ€ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ใ€ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผˆadrenomyeloneuropathy๏ผšAMN๏ผ‰ใ€ๆˆไบบๅคง่„ณๅž‹ใ€ๅฐ่„ณใƒป่„ณๅนนๅž‹ใ€ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ใ€ๅฅณๆ€ง็™บ็—‡่€…ใชใฉใฎ่‡จๅบŠ็—…ๅž‹ใŒๅญ˜ๅœจใ—ใ€ๅ„ใ€…ใฎ่‡จๅบŠ็ตŒ้Žใ€ไบˆๅพŒใฏ็•ฐใชใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใ ใ‘ใงใชใใ€ใปใจใ‚“ใฉใฎ็ต„็น”ใ‚„่ก€ๆผฟใ€่ตค่ก€็ƒ่†œใ€็™ฝ่ก€็ƒใชใฉใซใŠใ„ใฆๆฅต้•ท้Ž–่„‚่‚ช้…ธใฎๅข—ๅŠ ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200177NANDO:1200165
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "MERRF" + "Adrenoleukodystrophy" @en
rdfs:label - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็•ฐๅธธใ‚’ไผดใ†ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3606http://nanbyodata.jp/ontology/NANDO_2200576
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00176
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200173http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010790http://purl.obolibrary.org/obo/MONDO_0018544
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็•ฐๅธธใ‚’ไผดใ†ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200178 +
http://nanbyodata.jp/ontology/NANDO_1200166 (rdf:type owl:Class @@ -16171,70 +19121,101 @@

hasNotificationNumber21hasNotificationNumber20
dcterms:identifier1200178NANDO:1200166
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "Leber hereditary optic neuropathy" + "Childhood cerebral adrenoleukodystrophy" @en
rdfs:label - "ใƒฌใƒผใƒใƒผ็—…" + "ใ—ใ‚‡ใ†ใซใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3604http://nanbyodata.jp/ontology/NANDO_2201246
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3238
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3239
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200173http://nanbyodata.jp/ontology/NANDO_1200165
+ skos:altLabel + "CCALD" + @en
+ skos:altLabel + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010788http://purl.obolibrary.org/obo/MONDO_0010247
skos:prefLabel - "ใƒฌใƒผใƒใƒผ็—…" + "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200179 +
http://nanbyodata.jp/ontology/NANDO_1200167 (rdf:type owl:Class @@ -16242,46 +19223,86 @@

hasNotificationNumber21hasNotificationNumber20
dcterms:identifier1200179NANDO:1200167
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + "Adolescent cerebral adrenoleukodystrophy" + @en
+ rdfs:label + "ใ—ใ—ใ‚…ใ‚“ใใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttp://nanbyodata.jp/ontology/NANDO_2201247
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200173http://nanbyodata.jp/ontology/NANDO_1200165
+ skos:altLabel + "AdolCALD" + @en
+ skos:altLabel + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰" + @ja
+ skos:prefLabel + "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200180 +
http://nanbyodata.jp/ontology/NANDO_1200168 (rdf:type owl:Class @@ -16289,70 +19310,98 @@

hasNotificationNumber21hasNotificationNumber20
dcterms:identifier1200180NANDO:1200168
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "Mitochondrial complex I deficiency" + "Adrenomyeloneuropathy" @en
rdfs:label - "่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡" + "ใตใใ˜ใ‚“ใ›ใใšใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2627http://nanbyodata.jp/ontology/NANDO_2201248
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200179http://nanbyodata.jp/ontology/NANDO_1200165
+ skos:altLabel + "AMN" + @en
+ skos:altLabel + "Adrenoleukodystrophy" + @en
+ skos:altLabel + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009640http://purl.obolibrary.org/obo/MONDO_0015339
skos:prefLabel - "่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡" + "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200181 +
http://nanbyodata.jp/ontology/NANDO_1200169 (rdf:type owl:Class @@ -16360,70 +19409,86 @@

hasNotificationNumber21hasNotificationNumber20
dcterms:identifier1200181NANDO:1200169
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "Mitochondrial complex II deficiency" + "Adult cerebral adrenoleukodystrophy" @en
rdfs:label - "่ค‡ๅˆไฝ“โ…กๆฌ ๆ็—‡" + "ใ›ใ„ใ˜ใ‚“ใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2628http://nanbyodata.jp/ontology/NANDO_2201249
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200179http://nanbyodata.jp/ontology/NANDO_1200165
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009641 + skos:altLabel + "ACALD" + @en
+ skos:altLabel + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰" + @ja
skos:prefLabel - "่ค‡ๅˆไฝ“โ…กๆฌ ๆ็—‡" + "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200182 +
http://nanbyodata.jp/ontology/NANDO_1200170 (rdf:type owl:Class @@ -16431,46 +19496,79 @@

hasNotificationNumber21hasNotificationNumber20
dcterms:identifier1200182NANDO:1200170
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡" + "Atypical X-linked adult adrenoleukodystrophy" + @en
+ rdfs:label + "ใ—ใ‚‡ใ†ใฎใ†ใƒปใฎใ†ใ‹ใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docxhttp://nanbyodata.jp/ontology/NANDO_2201250
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/194https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200173http://nanbyodata.jp/ontology/NANDO_1200165
+ skos:altLabel + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰" + @ja
+ skos:prefLabel + "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
- - + - - - - - - + + - + - + + "ใ‚ใ˜ใใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira - - + + - + - + - + - - - - - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200183 +
http://nanbyodata.jp/ontology/NANDO_1200171 (rdf:type owl:Class @@ -16478,92 +19576,84 @@

hasNotificationNumber22
- dcterms:description - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡๏ผ‰ใฏใ€ๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€่„ณ่ก€็ฎกๆ’ฎๅฝฑๆคœๆŸปใงไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’10๏ฝž20๏ผ…ใซ่ชใ‚ใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš2.5ใงๆœ‰็—…็Ž‡ใฏๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏ10ไธ‡ไบบใซๅฏพใ—ใฆ๏ผ“๏ฝž10.5ไบบใจใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—๏ผ•๏ฝž10ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier1200183NANDO:1200171
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/022-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "Moyamoya disease" + "Addison-only adrenoleukodystrophy" @en
rdfs:label - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2635 + rdfs:label + "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01396http://nanbyodata.jp/ontology/NANDO_2201251
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157774.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/47https://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009649http://nanbyodata.jp/ontology/NANDO_1200165
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016820 + skos:altLabel + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018792http://purl.obolibrary.org/obo/MONDO_0018544
skos:prefLabel - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" + "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200184 +
http://nanbyodata.jp/ontology/NANDO_1200172 (rdf:type owl:Class @@ -16571,60 +19661,77 @@

hasNotificationNumber22hasNotificationNumber20
dcterms:identifier1200184NANDO:1200172
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/022-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/020-201704-kojin.pdf
rdfs:label - "bilateral moyamoya disease" + "Female adrenoleukodystrophy" @en
rdfs:label - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰" + "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใ˜ใ‚‡ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ—ใ‚ƒ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157774.docxhttp://nanbyodata.jp/ontology/NANDO_2201252
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198039.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/47https://www.nanbyou.or.jp/entry/186
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200183http://nanbyodata.jp/ontology/NANDO_1200165
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018544
skos:prefLabel - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰" + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200185 +
http://nanbyodata.jp/ontology/NANDO_1200173 (rdf:type owl:Class @@ -16632,60 +19739,96 @@

hasNotificationNumber22hasNotificationNumber21
+ dcterms:description + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ€่‡จๅบŠ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ—ใฆใ„ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใซๅŠ ใˆใฆใ€ๆดปๆ€ง้…ธ็ด ็”ฃ็”Ÿใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใ€ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณใฎ่ฒฏ่”ตใ€ๆ„ŸๆŸ“้˜ฒๅพกใชใฉใซใ‚‚้–ขใ‚ใฃใฆใ„ใ‚‹ใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใฏใ“ใ‚Œใ‚‰ใฎ็”Ÿ็‰ฉๅญฆ็š„ๆฉŸ่ƒฝใŒๅค‰ๅŒ–ใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็พๅœจใฎใจใ“ใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซใŠใ‘ใ‚‹ๆฉŸ่ƒฝ็•ฐๅธธใฎไธปไฝ“ใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌ้šœๅฎณใซใ‚ˆใ‚‹็—…ๆ…‹ใŒๅŸบๆœฌใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200185NANDO:1200173
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/022-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "unilateral moyamoya disease" + "Mitochondrial diseases" @en
rdfs:label - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰" + "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157774.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01427
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/47https://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200183http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004069
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044970
skos:prefLabel - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" @ja
- - + - - - - - - + + - + - + + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใ›ใ„ใŒใ„ใŒใ‚“ใใ‚“ใพใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200186 +
http://nanbyodata.jp/ontology/NANDO_1200174 (rdf:type owl:Class @@ -16693,77 +19836,88 @@

hasNotificationNumber23
- dcterms:description - "ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ๆญฃๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใŒไฝ•ใ‚‰ใ‹ใฎ็†็”ฑใงไผๆ’ญๆ€งใ‚’ๆœ‰ใ™ใ‚‹็•ฐๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใซๅค‰ๅŒ–ใ—ใ€ไธปใซไธญๆžข็ฅž็ตŒๅ†…ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆ€ฅ้€Ÿใซ็ฅž็ตŒ็ดฐ่ƒžๅค‰ๆ€งใ‚’่ตทใ“ใ™ใพใ‚Œใช่‡ดๆญปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฎไปฃ่กจ็š„ใชใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…๏ผˆCreutzfeldt-Jakob disease๏ผšCJD๏ผ‰ใฏใ€๏ผ‘ๅนด้–“ใซ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎๅ‰ฒๅˆใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ’ใƒˆใฎใƒ—ใƒชใ‚ชใƒณ็—…ใฏ็—…ๅ› ใซใ‚ˆใ‚Šใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆๅญค็™บๆ€งCJD๏ผˆsporadic CJD๏ผšsCJD๏ผ‰๏ผ‰ใ€ใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹้บไผๆ€ง๏ผˆๅฎถๆ—ๆ€งCJDใ€ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…๏ผˆGerstman-Strรคussler-Scheinker๏ผšGSS๏ผ‰ใ€่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡๏ผˆfatal familial insomnia๏ผšFFI๏ผ‰๏ผ‰ใ€ไป–ใ‹ใ‚‰ใฎใƒ—ใƒชใ‚ชใƒณๆ„ŸๆŸ“ใซใ‚ˆใ‚‹็ฒๅพ—ๆ€ง๏ผˆenvironmentally acquired๏ผ‰๏ผˆใ‚ฏใƒผใƒซใƒผใ€ๅŒปๅŽŸๆ€งใ€ๅค‰็•ฐๅž‹๏ผˆvariant Creutzfeldt-Jakob disease๏ผšvCJD๏ผ‰๏ผ‰ใฎ๏ผ“็จฎ้กžใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ไบบ็ฃๅ…ฑ้€šๆ„ŸๆŸ“็—‡ใงใ‚ใ‚Šใ€ใƒ’ใƒˆไปฅๅค–ใงใฏใ€็‰›ใฎ็‰›ๆตท็ถฟ็Šถ่„ณ็—‡๏ผˆBSE๏ผ‰ใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber21
dcterms:identifier1200186NANDO:1200174
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "Prion disease" + "Chronic progressive external ophthalmoplegia" @en
rdfs:label - "ใƒ—ใƒชใ‚ชใƒณ็—…" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00061 + rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5370https://www.nanbyou.or.jp/entry/194
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200173
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005429 + skos:altLabel + "CPEO" + @en
+ skos:altLabel + "Kearns-Sayre syndrome" + @en
+ skos:altLabel + "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค" + @ja
skos:prefLabel - "ใƒ—ใƒชใ‚ชใƒณ็—…" + "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200187 +
http://nanbyodata.jp/ontology/NANDO_1200175 (rdf:type owl:Class @@ -16771,72 +19925,84 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200187NANDO:1200175
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "Sporadic Creutzfeldt-Jakob disease" + "Leigh's encephalomyelopathy" @en
rdfs:label - "ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + "ใ‚Šใƒผใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒผ่„ณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2709
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/80https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200186http://nanbyodata.jp/ontology/NANDO_1200173
skos:altLabel - "sCJD" + "Leigh encephalomyelopathy" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016079http://purl.obolibrary.org/obo/MONDO_0009723
skos:prefLabel - "ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + "ใƒชใƒผ่„ณ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200188 +
http://nanbyodata.jp/ontology/NANDO_1200176 (rdf:type owl:Class @@ -16844,55 +20010,103 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200188NANDO:1200176
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "Genetic Prion Diseases" + "Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome" @en
rdfs:label - "้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—…" + "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใฎใ†ใใ‚“ใ—ใ‚‡ใ†ใƒปใซใ‚…ใ†ใ•ใ‚“ใ‚ใ—ใฉใƒผใ—ใ™ใƒปใฎใ†ใใฃใกใ‚…ใ†ใ‚ˆใ†ใปใฃใ•ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3605
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01347
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200186http://nanbyodata.jp/ontology/NANDO_1200173
+ skos:altLabel + "MELAS" + @en
+ skos:altLabel + "MELAS" + @ja
+ skos:altLabel + "MELAS syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010789
skos:prefLabel - "้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—…" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200189 +
http://nanbyodata.jp/ontology/NANDO_1200177 (rdf:type owl:Class @@ -16900,55 +20114,103 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200189NANDO:1200177
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "Familial Creutzfeldt-Jakob Disease" + "Myoclonus epilepsy associated with ragged-red fibers" @en
rdfs:label - "ๅฎถๆ—ๆ€งCJD" + "ใ›ใใ—ใ‚‡ใใผใ‚ใ›ใ‚“ใ„ใƒปใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3606
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01356
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200188http://nanbyodata.jp/ontology/NANDO_1200173
+ skos:altLabel + "MERRF" + @en
+ skos:altLabel + "MERRF" + @ja
+ skos:altLabel + "Myoclonic epilepsy associated with ragged-red fibers" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010790
skos:prefLabel - "ๅฎถๆ—ๆ€งCJD" + "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200190 +
http://nanbyodata.jp/ontology/NANDO_1200178 (rdf:type owl:Class @@ -16956,77 +20218,101 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200190NANDO:1200178
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "Gerstmann-Straussler-Scheinker syndrome" + "Leber hereditary optic neuropathy" @en
rdfs:label - "ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…" + "ใ‚Œใƒผในใ‚‹ใ„ใงใ‚“ใ›ใ„ใ—ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=650http://nanbyodata.jp/ontology/NANDO_1200940
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3604
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00068
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/88https://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200188http://nanbyodata.jp/ontology/NANDO_1200173
skos:altLabel - "GSS" + "LHON" @en
+ skos:altLabel + "ใƒฌใƒผใƒใƒผ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007656http://purl.obolibrary.org/obo/MONDO_0010788
skos:prefLabel - "ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…" + "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡" @ja
- - + - - + + - + - + + "ใ›ใ„ใ‹ใŒใใฆใใ„ใ˜ใ‚‡ใ†ใŒใ‚ใใ‚‰ใ‹ใซใชใฃใŸใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200191 +
http://nanbyodata.jp/ontology/NANDO_1200179 (rdf:type owl:Class @@ -17034,77 +20320,67 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200191NANDO:1200179
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "fatal familial insomnia" + "Mitochondrial diseases with proven biochemical abnormality" @en
rdfs:label - "่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3630 + rdfs:label + "็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/51https://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200188
- skos:altLabel - "FFI" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010808http://nanbyodata.jp/ontology/NANDO_1200173
skos:prefLabel - "่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡" + "็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200192 +
http://nanbyodata.jp/ontology/NANDO_1200180 (rdf:type owl:Class @@ -17112,60 +20388,82 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200192NANDO:1200180
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "Acquired Creutzfeldt-Jakob disease" + "Mitochondrial complex I deficiency" @en
rdfs:label - "็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + "ใตใใ”ใ†ใŸใ„1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00473
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200186http://nanbyodata.jp/ontology/NANDO_1200179
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018686http://purl.obolibrary.org/obo/MONDO_0100133
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100224
skos:prefLabel - "็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + "่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200193 +
http://nanbyodata.jp/ontology/NANDO_1200181 (rdf:type owl:Class @@ -17173,55 +20471,77 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200193NANDO:1200181
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "Iatrogenic Creutzfeldt-Jakob disease" + "Mitochondrial complex II deficiency" @en
rdfs:label - "ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + "ใตใใ”ใ†ใŸใ„2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ค‡ๅˆไฝ“IIๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2628
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200192http://nanbyodata.jp/ontology/NANDO_1200179
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009641
skos:prefLabel - "ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + "่ค‡ๅˆไฝ“IIๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - - -
http://nanbyodata.jp/ontology/nando#1200194 +
http://nanbyodata.jp/ontology/NANDO_1200182 (rdf:type owl:Class @@ -17229,67 +20549,74 @@

hasNotificationNumber23hasNotificationNumber21
dcterms:identifier1200194NANDO:1200182
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/021-201704-kojin.pdf
rdfs:label - "variant Creutzfeldt-Jakob disease" + "Hyperlacticacidemia with no identified etiology" @en
rdfs:label - "ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—…" + "ใ’ใ‚“ใ„ใ‚“ใตใ‚ใ„ใชใ“ใ†ใซใ‚…ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157772.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200192http://nanbyodata.jp/ontology/NANDO_1200173
skos:altLabel - "vCJD" + "Hyperlacticacidaemia with no identified etiology" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007012
skos:prefLabel - "ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—…" + "ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200195 +
http://nanbyodata.jp/ontology/NANDO_1200183 (rdf:type owl:Class @@ -17297,82 +20624,96 @@

hasNotificationNumber24hasNotificationNumber22
dcterms:description - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitis๏ผšSSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ใƒ’ใƒˆใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆprogressive multifocal leukoencephalopathy๏ผšPML๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡๏ผ‰ใฏใ€ๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€่„ณ่ก€็ฎกๆ’ฎๅฝฑๆคœๆŸปใงไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’10๏ฝž20๏ผ…ใซ่ชใ‚ใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš2.5ใงๆœ‰็—…็Ž‡ใฏๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏ10ไธ‡ไบบใซๅฏพใ—ใฆ๏ผ“๏ฝž10.5ไบบใจใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—๏ผ•๏ฝž10ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200195NANDO:1200183
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/022-201704-kojin.pdf
rdfs:label - "Subacute sclerosing panencephalitis" + "Moyamoya disease" @en
rdfs:label - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" + "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819http://nanbyodata.jp/ontology/NANDO_2200850
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01696https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01396
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157774.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.nanbyou.or.jp/entry/209
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009835http://purl.obolibrary.org/obo/MONDO_0016820
skos:prefLabel - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" @ja
- - + - - + + - + - + + + + + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200196 +
http://nanbyodata.jp/ontology/NANDO_1200184 (rdf:type owl:Class @@ -17380,46 +20721,72 @@

hasNotificationNumber24hasNotificationNumber22
dcterms:identifier1200196NANDO:1200184
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/022-201704-kojin.pdf
rdfs:label - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰" + "Bilateral moyamoya disease" + @en
+ rdfs:label + "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†๏ผˆใ‚Šใ‚‡ใ†ใŒใ‚ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157774.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.nanbyou.or.jp/entry/209
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200195http://nanbyodata.jp/ontology/NANDO_1200183
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016820
+ skos:prefLabel + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰" + @ja
- - + - - + + - + - + + + + + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200197 +
http://nanbyodata.jp/ontology/NANDO_1200185 (rdf:type owl:Class @@ -17427,46 +20794,72 @@

hasNotificationNumber24hasNotificationNumber22
dcterms:identifier1200197NANDO:1200185
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/022-201704-kojin.pdf
+ rdfs:label + "Unilateral moyamoya disease" + @en
+ rdfs:label + "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†๏ผˆใ‹ใŸใŒใ‚ใŒใŸ๏ผ‰" + @ja-Hira
rdfs:label - "ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹" + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157774.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.nanbyou.or.jp/entry/209
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200196http://nanbyodata.jp/ontology/NANDO_1200183
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016820
+ skos:prefLabel + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰" + @ja
- - + - - + + + + + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200198 +
http://nanbyodata.jp/ontology/NANDO_1200186 (rdf:type owl:Class @@ -17474,46 +20867,84 @@

hasNotificationNumber24hasNotificationNumber23
+ dcterms:description + "ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ๆญฃๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใŒไฝ•ใ‚‰ใ‹ใฎ็†็”ฑใงไผๆ’ญๆ€งใ‚’ๆœ‰ใ™ใ‚‹็•ฐๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใซๅค‰ๅŒ–ใ—ใ€ไธปใซไธญๆžข็ฅž็ตŒๅ†…ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆ€ฅ้€Ÿใซ็ฅž็ตŒ็ดฐ่ƒžๅค‰ๆ€งใ‚’่ตทใ“ใ™ใพใ‚Œใช่‡ดๆญปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฎไปฃ่กจ็š„ใชใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…๏ผˆCreutzfeldt-Jakob disease๏ผšCJD๏ผ‰ใฏใ€๏ผ‘ๅนด้–“ใซ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎๅ‰ฒๅˆใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ’ใƒˆใฎใƒ—ใƒชใ‚ชใƒณ็—…ใฏ็—…ๅ› ใซใ‚ˆใ‚Šใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆๅญค็™บๆ€งCJD๏ผˆsporadic CJD๏ผšsCJD๏ผ‰๏ผ‰ใ€ใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹้บไผๆ€ง๏ผˆๅฎถๆ—ๆ€งCJDใ€ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…๏ผˆGerstman-Strรคussler-Scheinker๏ผšGSS๏ผ‰ใ€่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡๏ผˆfatal familial insomnia๏ผšFFI๏ผ‰๏ผ‰ใ€ไป–ใ‹ใ‚‰ใฎใƒ—ใƒชใ‚ชใƒณๆ„ŸๆŸ“ใซใ‚ˆใ‚‹็ฒๅพ—ๆ€ง๏ผˆenvironmentally acquired๏ผ‰๏ผˆใ‚ฏใƒผใƒซใƒผใ€ๅŒปๅŽŸๆ€งใ€ๅค‰็•ฐๅž‹๏ผˆvariant Creutzfeldt-Jakob disease๏ผšvCJD๏ผ‰๏ผ‰ใฎ๏ผ“็จฎ้กžใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ไบบ็ฃๅ…ฑ้€šๆ„ŸๆŸ“็—‡ใงใ‚ใ‚Šใ€ใƒ’ใƒˆไปฅๅค–ใงใฏใ€็‰›ใฎ็‰›ๆตท็ถฟ็Šถ่„ณ็—‡๏ผˆBSE๏ผ‰ใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200198NANDO:1200186
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
+ rdfs:label + "Prion disease" + @en
+ rdfs:label + "ใทใ‚ŠใŠใ‚“ใณใ‚‡ใ†" + @ja-Hira
rdfs:label - "ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹" + "ใƒ—ใƒชใ‚ชใƒณ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00061
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5370
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200196http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005429
+ skos:prefLabel + "ใƒ—ใƒชใ‚ชใƒณ็—…" + @ja
- - + - - + + - + - + + + + + + + + + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200199 +
http://nanbyodata.jp/ontology/NANDO_1200187 (rdf:type owl:Class @@ -17521,93 +20952,86 @@

hasNotificationNumber24hasNotificationNumber23
dcterms:identifier1200199NANDO:1200187
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
+ rdfs:label + "Sporadic Creutzfeldt-Jakob disease" + @en
+ rdfs:label + "ใ“ใฏใคใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†" + @ja-Hira
rdfs:label - "็ทฉๅพ้€ฒ่กŒๅž‹" + "ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.nanbyou.or.jp/entry/240
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200196
- - - - - - - - - - + - - + + - + - - - - - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200200 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber24
- dcterms:identifier1200200http://nanbyodata.jp/ontology/NANDO_1200186
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf + skos:altLabel + "sCJD" + @en
- rdfs:label + skos:altLabel - "ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹" + "็‰น็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016079
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200196 + skos:prefLabel + "ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + @ja
- - + - - + + - + - + + "ใ„ใงใ‚“ใ›ใ„ใทใ‚ŠใŠใ‚“ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200201 +
http://nanbyodata.jp/ontology/NANDO_1200188 (rdf:type owl:Class @@ -17615,60 +21039,67 @@

hasNotificationNumber24hasNotificationNumber23
dcterms:identifier1200201NANDO:1200188
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
rdfs:label - "Atypical subacute sclerosing panencephalitis" + "Genetic prion diseases" @en
rdfs:label - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx + rdfs:label + "้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—…" + @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200195http://nanbyodata.jp/ontology/NANDO_1200186
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017234
skos:prefLabel - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰" + "้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—…" @ja
- - + - - + + - + - + + + + + + + + + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200202 +
http://nanbyodata.jp/ontology/NANDO_1200189 (rdf:type owl:Class @@ -17676,93 +21107,79 @@

hasNotificationNumber24hasNotificationNumber23
dcterms:identifier1200202NANDO:1200189
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
+ rdfs:label + "Familial Creutzfeldt-Jakob disease" + @en
+ rdfs:label + "ใ‹ใžใใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†" + @ja-Hira
rdfs:label - "็—‡็Šถใ‹ใ‚™็—™ๆ”ฃใฎใฟใฎไพ‹" + "ๅฎถๆ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=372
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200201
- - - - - - - - - - - - - - + - + - - - - - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200203 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber24
- dcterms:identifier1200203
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttp://nanbyodata.jp/ontology/NANDO_1200188
- rdfs:label + skos:altLabel - "Jabbour ๅˆ†้กžใฎ I ๆœŸใ‹ใ‚™ ้ทๅปถใ™ใ‚‹ไพ‹" + "ๅฎถๆ—ๆ€งCJD" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007403
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200201 + skos:prefLabel + "ๅฎถๆ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + @ja
- - + - - + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200204 +
http://nanbyodata.jp/ontology/NANDO_1200190 (rdf:type owl:Class @@ -17770,46 +21187,84 @@

hasNotificationNumber24hasNotificationNumber23
dcterms:identifier1200204NANDO:1200190
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
+ rdfs:label + "Gerstmann-Straussler-Scheinker syndrome" + @en
+ rdfs:label + "ใ’ใ‚‹ใ™ใจใพใ‚“ใƒปใ™ใจใ‚ใ„ใ™ใ‚‰ใƒผใƒปใ—ใ‚ƒใ„ใ‚“ใ‹ใƒผใณใ‚‡ใ†" + @ja-Hira
rdfs:label - "ไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹" + "ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=650
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/247
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200201http://nanbyodata.jp/ontology/NANDO_1200188
+ skos:altLabel + "GSS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007656
+ skos:prefLabel + "ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…" + @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200205 +
http://nanbyodata.jp/ontology/NANDO_1200191 (rdf:type owl:Class @@ -17817,77 +21272,84 @@

hasNotificationNumber25
- dcterms:description - "ๅคšใใฎไบบใซๆฝœไผๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹JCใ‚ฆใ‚คใƒซใ‚นใŒใ€ๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ—ใŸ็Šถๆณใงๅ†ๆดปๆ€งๅŒ–ใ—ใฆ่„ณๅ†…ใซๅคš็™บๆ€งใฎ่„ฑ้ซ„็—…ๅทฃใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆใงใฎ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆProgressive Multifocal Leukoencephalopathy๏ผšPML๏ผ‰ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใฏใ€HIVๆ„ŸๆŸ“็—‡ใ‚„่ก€ๆถฒ็ณปๆ‚ชๆ€ง่…ซ็˜ใŒๅคšใใ€่† ๅŽŸ็—…๏ผ็ตๅˆ็น”็—…ใชใฉใŒ็ถšใใ€‚ๆฌง็ฑณใงใฏPMLใฎๅŸบ็คŽ็–พๆ‚ฃใฎๅคšใใ‚’HIVๆ„ŸๆŸ“็—‡ใŒๅ ใ‚ใ‚‹ใŒ๏ผˆ็ด„85๏ผ…๏ผ‰ใ€ๆœฌ้‚ฆใงใฏใใฎๅŸบ็คŽ็–พๆ‚ฃใฏๆฏ”่ผƒ็š„ๅคšๅฒใซใ‚ใŸใ‚‹็ตๆžœใงใ‚ใ‚‹ใ€‚JCใ‚ฆใ‚คใƒซใ‚นใฎๅˆๆ„ŸๆŸ“ใฏๅนผใƒปๅฐๅ…ๆœŸใซ่ตทใ“ใ‚Šใ€ๆˆไบบใฎๆŠ—ไฝ“ไฟๆœ‰็Ž‡ใฏๅ…จไบบๅฃใฎ80๏ผ…็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber23
dcterms:identifier1200205NANDO:1200191
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/025-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
rdfs:label - "Progressive multifocal leukoencephalopathy" + "Fatal familial insomnia" @en
rdfs:label - "้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡" + "ใกใ—ใ›ใ„ใ‹ใžใใ›ใ„ใตใฟใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00370http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3630
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157720.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/126https://www.nanbyou.or.jp/entry/213
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200188
+ skos:altLabel + "FFI" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016318http://purl.obolibrary.org/obo/MONDO_0010808
skos:prefLabel - "้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡" + "่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ‹ใใจใใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200206 +
http://nanbyodata.jp/ontology/NANDO_1200192 (rdf:type owl:Class @@ -17895,67 +21357,67 @@

hasNotificationNumber26
- dcterms:description - "HTLV-1ใฎใ‚ญใƒฃใƒชใ‚ขใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็—™ๆ€ง่„Š้ซ„้บป็—บใ‚’็คบใ™ไธ€็พคใ€‚" - @jahasNotificationNumber23
dcterms:identifier1200206NANDO:1200192
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/026-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
rdfs:label - "HTLV-1-associated Myelopathy" + "Environmentally acquired Creutzfeldt-Jakob disease" @en
rdfs:label - "HTLV-1้–ข้€ฃ่„Š้ซ„็—‡" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157669.docx + rdfs:label + "็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/50https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200186
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018686
skos:prefLabel - "HTLV-1้–ข้€ฃ่„Š้ซ„็—‡" + "็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" @ja
- - + - - - - - - + + - + - + + "ใ„ใ’ใ‚“ใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200207 +
http://nanbyodata.jp/ontology/NANDO_1200193 (rdf:type owl:Class @@ -17963,72 +21425,74 @@

hasNotificationNumber27
- dcterms:description - "1930ๅนดใ€ใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…Theodor Fahr๏ผˆ1877๏ฝž1945๏ผ‰ใŒ็—…็†ๅญฆ็š„ใช็—‡ไพ‹ๅ ฑๅ‘Šใ‚’ใ—ใฆใ€ใใฎๅๅ‰ใŒ็—…ๅใซใคใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใƒ•ใ‚กใƒผใƒซ๏ผˆFahr๏ผ‰็—…ใจใ„ใ†็—…ๅใฏ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆ›–ๆ˜งใชใจใ“ใ‚ใŒใ‚ใ‚Šใ€ใ“ใ‚Œใพใงใ‚‚ๅคšใใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใ€ๆตทๅค–ใงใฏfamilial idiopathic basal ganglia calcification๏ผˆFIBGC๏ผ‰ใ€primary familial brain calcification๏ผˆPFBC๏ผ‰ใชใฉๆง˜ใ€…ใชๅ็งฐใŒไฝฟใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€ไธกๅดๅŸบๅบ•ๆ ธใซๆ˜Žใ‚‰ใ‹ใช็—…็š„ใช็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ€ไธ‹่จ˜ใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ใ‚‹้‘‘ๅˆฅ็–พๆ‚ฃใŒใชใ•ใ‚ŒใŸใ‚‚ใฎใ‚’็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆIdiopathic basal ganglia calcification๏ผšIBGC๏ผ‰ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅฎถๆ—ไพ‹๏ผˆๅฎถ็ณปๅ†…ใซ่ค‡ๆ•ฐใฎๅŒๆง˜ใฎๆ‚ฃ่€…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚๏ผ‰ใจๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใ‚„ใ€ๅพŒ่ฟฐใฎ้บไผๅญ็•ฐๅธธใŒๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใฏใ€ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆfamilial Idiopathic basal ganglia calcification๏ผšFIBGC๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ๅฝ“ๅˆใ€ๅญค็™บไพ‹ใจๆ€ใ‚ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ใใฎๅพŒใฎ่‡จๅบŠ็š„ๆคœ็ดขใ‹ใ‚‰ใ€ๅฎถๆ—ไพ‹ใจๅˆคๆ˜Žใ™ใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไปŠๅพŒใ€ๅฎถๆ—ไพ‹ใ‚’ไธปใซๆ›ดใชใ‚‹ๅŽŸๅ› ้บไผๅญใŒๅˆคๆ˜Žใ—ใฆใ„ใใ‚‚ใฎใจๆ€ใ‚ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber23
dcterms:identifier1200207NANDO:1200193
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/027-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
rdfs:label - "Idiopathic basal ganglia calcification" + "Iatrogenic Creutzfeldt-Jakob disease" @en
rdfs:label - "็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157865.docx + rdfs:label + "ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" + @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3838https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200192
+ skos:altLabel + "Iatrogenic CJD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008947http://purl.obolibrary.org/obo/MONDO_0034976
skos:prefLabel - "็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" + "ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200208 +
http://nanbyodata.jp/ontology/NANDO_1200194 (rdf:type owl:Class @@ -18036,65 +21500,74 @@

hasNotificationNumber27hasNotificationNumber23
dcterms:identifier1200208NANDO:1200194
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/027-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/023-201704-kojin.pdf
rdfs:label - "Familial idiopathic basal ganglia calcification" + "Variant Creutzfeldt-Jakob disease" @en
rdfs:label - "ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" + "ใธใ‚“ใ„ใŒใŸใใ‚ใ„ใคใตใ‡ใ‚‹ใจใ‚„ใ“ใถใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01574https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157764.docx
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157865.docx + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200192
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3838 + skos:altLabel + "vCJD" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200207 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007012
skos:prefLabel - "ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" + "ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200209 +
http://nanbyodata.jp/ontology/NANDO_1200195 (rdf:type owl:Class @@ -18102,72 +21575,101 @@

hasNotificationNumber28hasNotificationNumber24
dcterms:description - "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น๏ผˆamyloidosis๏ผ‰ใฏใ€็ทš็ถญๆง‹้€ ใ‚’ใ‚‚ใค่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒใ€ๅ…จ่บซ่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ€€ใ‚ขใƒŸใƒญใ‚คใƒ‰ใฏใ€็—…็†ๅญฆ็š„ใซใ‚ขใƒซใ‚ซใƒชใ‚ณใƒณใ‚ด่ตคๆŸ“่‰ฒใงๆฉ™่ตค่‰ฒใซๆŸ“ใพใ‚Šใ€ๅๅ…‰้ก•ๅพฎ้กไธ‹ใง็ท‘่‰ฒใฎ่ค‡ๅฑˆๆŠ˜ใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่›‹็™ฝ่ณชใŒ็ซ‹ไฝ“ๆง‹้€ ๏ผˆใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ๏ผ‰ใ‚’ๅค‰ๅŒ–ใ•ใ›ใฆใ‚ขใƒŸใƒญใ‚คใƒ‰ใจใ—ใฆๅ‡้›†ใ—็–พๆ‚ฃใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‹ใ‚‰ใ€ใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ็—…ใฎ๏ผ‘ใคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitis๏ผšSSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ใƒ’ใƒˆใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆprogressive multifocal leukoencephalopathy๏ผšPML๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200209NANDO:1200195
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "Systemic amyloidosis" + "Subacute sclerosing panencephalitis" @en
rdfs:label - "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docxhttp://nanbyodata.jp/ontology/NANDO_2200899
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/45http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01696
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "SSPE" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017816http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
- - + - - + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200210 +
http://nanbyodata.jp/ontology/NANDO_1200196 (rdf:type owl:Class @@ -18175,46 +21677,77 @@

hasNotificationNumber28hasNotificationNumber24
dcterms:identifier1200210NANDO:1200196
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
+ rdfs:label + "Typical subacute sclerosing panencephalitis" + @en
+ rdfs:label + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใฆใ‚“ใ‘ใ„๏ผ‰" + @ja-Hira
rdfs:label - "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹(TTR)ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/45https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200209http://nanbyodata.jp/ontology/NANDO_1200195
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009835
+ skos:prefLabel + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰" + @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200211 +
http://nanbyodata.jp/ontology/NANDO_1200197 (rdf:type owl:Class @@ -18222,70 +21755,77 @@

hasNotificationNumber28hasNotificationNumber24
dcterms:identifier1200211NANDO:1200197
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "AL amyloidosis" + "Rapidly progressive subacute sclerosing panencephalitis" @en
rdfs:label - "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/45https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200210 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009693 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019438http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200212 +
http://nanbyodata.jp/ontology/NANDO_1200198 (rdf:type owl:Class @@ -18293,72 +21833,77 @@

hasNotificationNumber28hasNotificationNumber24
dcterms:identifier1200212NANDO:1200198
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "senile systemic amyloidosis" + "Subacute progressive sclerosing panencephalitis" @en
rdfs:label - "่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ใ‚ใใ‚…ใ†ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/45https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200210 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/204
- skos:altLabel - "SSA" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018018http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200213 +
http://nanbyodata.jp/ontology/NANDO_1200199 (rdf:type owl:Class @@ -18366,60 +21911,77 @@

hasNotificationNumber28hasNotificationNumber24
dcterms:identifier1200213NANDO:1200199
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "Reactive AA amyloidosis" + "Slowly progressive subacute sclerosing panencephalitis" @en
rdfs:label - "ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ใ‹ใ‚“ใ˜ใ‚‡ใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็ทฉๅพ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/45https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/42
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200210http://nanbyodata.jp/ontology/NANDO_1200196
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "็ทฉๅพ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200214 +
http://nanbyodata.jp/ontology/NANDO_1200200 (rdf:type owl:Class @@ -18427,70 +21989,77 @@

hasNotificationNumber28hasNotificationNumber24
dcterms:identifier1200214NANDO:1200200
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "Familial amyloid polyneuropathy" + "Chronic relapsing-remitting subacute sclerosing panencephalitis" @en
rdfs:label - "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" + "ใพใ‚“ใ›ใ„ใ•ใ„ใฏใค-ใ‹ใ‚“ใ‹ใ„ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=75http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/45https://www.nanbyou.or.jp/entry/204
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200209http://nanbyodata.jp/ontology/NANDO_1200196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007100http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" + "ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - - - - - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200215 +
http://nanbyodata.jp/ontology/NANDO_1200201 (rdf:type owl:Class @@ -18498,87 +22067,77 @@

hasNotificationNumber29
- dcterms:description - "็”Ÿไธ‹ๆ™‚ๅˆใฏไนณๅ…ๆ—ฉๆœŸใ‹ใ‚‰ใ€้ก”้ข็ญ‹ใ‚’ๅซใ‚€ๅ…จ่ˆฌๆ€งใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใ‚’ๆฅใ™ใ€‚้ ไฝ้–ข็ฏ€ใฎ้Žไผธๅฑ•ใจ่ฟ‘ไฝ้–ข็ฏ€ใฎๆ‹˜็ธฎใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคงๅŠใŒๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€ไธ€้ƒจใซๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ไพ‹ใŒใ‚ใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใฆใŠใ‚Šใ€Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎ้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็ต„็น”ๅญฆ็š„ใซใฏ็ญ‹็ทš็ถญๅฃŠๆญปใƒปๅ†็”Ÿๅค‰ๅŒ–ใŒไนใ—ใใ€ใ„ใ‚ใ‚†ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็•ฐใชใ‚‹็—…ๆ…‹ใŒใ‚ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎไธญ้–ขๅž‹ใจใ‚‚่จ€ใˆใ‚‹็ญ‹็กฌๅŒ–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎๅญ˜ๅœจใ‚’ไธปๅผตใ™ใ‚‹็ ”็ฉถ่€…ใ‚‚ใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€ๆใ‚‰ใไธ€้€ฃใฎใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใงใฏใชใ„ใ‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber24
dcterms:identifier1200215NANDO:1200201
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/029-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "Ullrich disease" + "Atypical subacute sclerosing panencephalitis" @en
rdfs:label - "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…" + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใฒใฆใ‚“ใ‘ใ„๏ผ‰" + @ja-Hira
+ rdfs:label + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2668
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01778http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157668.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3999https://www.nanbyou.or.jp/entry/42
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000355http://nanbyodata.jp/ontology/NANDO_1200195
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009681http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200216 +
http://nanbyodata.jp/ontology/NANDO_1200202 (rdf:type owl:Class @@ -18586,77 +22145,77 @@

hasNotificationNumber30
- dcterms:description - "้ ไฝ็ญ‹ใŒๅฅฝใ‚“ใงไพตใ•ใ‚Œใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใฎ็ท็งฐใ€‚ไธ–็•Œ็š„ใซใฏๅฐ‘ใชใใจใ‚‚๏ผ™ใคใฎ็•ฐใชใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใพใงใฎใจใ“ใ‚ใ€ๆœฌ้‚ฆใงใฏใ€Œ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆ้บไผๅฝขๅผไธๆ˜Ž๏ผ‰ใฎ๏ผ“็–พๆ‚ฃใ—ใ‹่ฆ‹ใ„ใ ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ„ใšใ‚Œใ‚‚ๆœฌ้‚ฆใซใŠใ„ใฆ็™บ่ฆ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber24
dcterms:identifier1200216NANDO:1200202
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "Distal myopathy" + "Subacute sclerosing panencephalitis presenting only with convulsion" @en
rdfs:label - "้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใ—ใ‚‡ใ†ใ˜ใ‚‡ใ†ใŒใ‘ใ„ใ‚Œใ‚“ใฎใฟใฎใ‚Œใ„๏ผ‰" + @ja-Hira
+ rdfs:label + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ็—‡็ŠถใŒ็—™ๆ”ฃใฎใฟใฎไพ‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00594http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4002https://www.nanbyou.or.jp/entry/42
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200201
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018949http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ็—‡็ŠถใŒ็—™ๆ”ฃใฎใฟใฎไพ‹๏ผ‰" @ja
- - + - - + + - + - + + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใ˜ใ‚ƒใฐใƒผใถใ‚“ใ‚‹ใ„ใฎ1ใใŒใ›ใ‚“ใˆใ‚“ใ™ใ‚‹ใ‚Œใ„๏ผ‰" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200217 +
http://nanbyodata.jp/ontology/NANDO_1200203 (rdf:type owl:Class @@ -18664,80 +22223,77 @@

hasNotificationNumber30hasNotificationNumber24
dcterms:identifier1200217NANDO:1200203
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "Miyoshi myopathy" + "Subacute sclerosing panencephalitis with prolonged Jabbour's clinical stage I" @en
rdfs:label - "ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2672 + rdfs:label + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆJabbourๅˆ†้กžใฎ I ๆœŸใŒ้ทๅปถใ™ใ‚‹ไพ‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01965http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4002https://www.nanbyou.or.jp/entry/204
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200216
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009685http://nanbyodata.jp/ontology/NANDO_1200201
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024545http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆJabbourๅˆ†้กžใฎ I ๆœŸใŒ้ทๅปถใ™ใ‚‹ไพ‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200218 +
http://nanbyodata.jp/ontology/NANDO_1200204 (rdf:type owl:Class @@ -18745,75 +22301,77 @@

hasNotificationNumber30hasNotificationNumber24
dcterms:identifier1200218NANDO:1200204
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/024-201804-kojin.pdf
rdfs:label - "Distal myopathy with rimmed vacuoles" + "Subacute sclerosing panencephalitis in infants or adults" @en
rdfs:label - "็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใซใ‚…ใ†ใ˜ใ‚ใ‚‹ใ„ใฏใ›ใ„ใ˜ใ‚“ใ‚Œใ„๏ผ‰" + @ja-Hira
+ rdfs:label + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4392http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198115.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4002https://www.nanbyou.or.jp/entry/204
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200216
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007827http://nanbyodata.jp/ontology/NANDO_1200201
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011603http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹๏ผ‰" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200219 +
http://nanbyodata.jp/ontology/NANDO_1200205 (rdf:type owl:Class @@ -18821,65 +22379,91 @@

hasNotificationNumber30hasNotificationNumber25
+ dcterms:description + "ๅคšใใฎไบบใซๆฝœไผๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹JCใ‚ฆใ‚คใƒซใ‚นใŒใ€ๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ—ใŸ็Šถๆณใงๅ†ๆดปๆ€งๅŒ–ใ—ใฆ่„ณๅ†…ใซๅคš็™บๆ€งใฎ่„ฑ้ซ„็—…ๅทฃใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆใงใฎ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆProgressive Multifocal Leukoencephalopathy๏ผšPML๏ผ‰ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใฏใ€HIVๆ„ŸๆŸ“็—‡ใ‚„่ก€ๆถฒ็ณปๆ‚ชๆ€ง่…ซ็˜ใŒๅคšใใ€่† ๅŽŸ็—…๏ผ็ตๅˆ็น”็—…ใชใฉใŒ็ถšใใ€‚ๆฌง็ฑณใงใฏPMLใฎๅŸบ็คŽ็–พๆ‚ฃใฎๅคšใใ‚’HIVๆ„ŸๆŸ“็—‡ใŒๅ ใ‚ใ‚‹ใŒ๏ผˆ็ด„85๏ผ…๏ผ‰ใ€ๆœฌ้‚ฆใงใฏใใฎๅŸบ็คŽ็–พๆ‚ฃใฏๆฏ”่ผƒ็š„ๅคšๅฒใซใ‚ใŸใ‚‹็ตๆžœใงใ‚ใ‚‹ใ€‚JCใ‚ฆใ‚คใƒซใ‚นใฎๅˆๆ„ŸๆŸ“ใฏๅนผใƒปๅฐๅ…ๆœŸใซ่ตทใ“ใ‚Šใ€ๆˆไบบใฎๆŠ—ไฝ“ไฟๆœ‰็Ž‡ใฏๅ…จไบบๅฃใฎ80๏ผ…็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200219NANDO:1200205
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/025-201704-kojin.pdf
rdfs:label - "Oculopharyngodistal myopathy" + "Progressive multifocal leukoencephalopathy" @en
rdfs:label - "็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใŸใใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00370
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157720.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4002https://www.nanbyou.or.jp/entry/278
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200216http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "PML" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008117http://purl.obolibrary.org/obo/MONDO_0016318
skos:prefLabel - "็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
- - + - - + + - + - + - - + + - + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200220 +
http://nanbyodata.jp/ontology/NANDO_1200206 (rdf:type owl:Class @@ -18887,87 +22471,98 @@

hasNotificationNumber31hasNotificationNumber26
dcterms:description - "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹่ฟ‘ไฝ็ญ‹ๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใซๅŠ ใˆใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‚ˆใ‚Šๆ‰‹ๆŒ‡ใƒป่‚˜้–ข็ฏ€ใƒป่ถณ้–ข็ฏ€ใชใฉใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’ไผดใ†ใƒŸใ‚ชใƒ‘ใƒใƒผใงใ‚ใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใงใ‚ใ‚‹ใŒใ€ๆœ€่ฟ‘ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใ€‚ ่‹ฑๅ›ฝใฎ็–ซๅญฆ่ชฟๆŸปใงใฏใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆœ‰็—…็Ž‡0.77๏ผˆ10ไธ‡ๅฏพ๏ผ‰ใงใ‚ใ‚‹ใ€‚Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธญใงใฏใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใŒ้ซ˜้ ปๅบฆใงใ‚ใ‚‹ใ€‚ๅนณๆˆ22ๅนดๅบฆๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ่ฒป่ฃœๅŠฉ้‡‘้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใใฎ้กž็ธ็–พๆ‚ฃใฎๅฎŸๆ…‹่ชฟๆŸป๏ผˆ่ฅฟ้‡Ž็ญ๏ผ‰ใ€ใง็–ซๅญฆ่ชฟๆŸปใŒ่กŒใ‚ใ‚ŒใŸใŒใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆ‚ฃ่€…ๆ•ฐใฏใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎๆ‚ฃ่€…ๆ•ฐใฎ1/10็จ‹ๅบฆใงใ‚ใ‚Šใ€ๆœฌ้‚ฆใงใฏใ€ๅคง้ƒจๅˆ†ใฎไพ‹ใŒๆœช่จบๆ–ญใฎใพใพใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใ€ๆœฌ้‚ฆใ‹ใ‚‰ใฏใ€1989ๅนดใจ1992ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ไธกไพ‹ใจใ‚‚ใซ้บไผๅญฆ็š„ใซ่จบๆ–ญใŒ็ขบๅฎšใ—ใฆใ„ใชใ„ใ€‚" + "HTLV-1ใฎใ‚ญใƒฃใƒชใ‚ขใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็—™ๆ€ง่„Š้ซ„้บป็—บใ‚’็คบใ™ไธ€็พคใ€‚" @ja
dcterms:identifier1200220NANDO:1200206
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/031-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/026-201704-kojin.pdf
rdfs:label - "Bethlem Myopathy" + "HTLV-1-associated myelopathy" @en
rdfs:label - "ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "HTLV-1้–ข้€ฃ่„Š้ซ„็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1016 + rdfs:label + "ใˆใ„ใกใฆใƒใƒผใˆใ‚‹ใถใ„1ใ‹ใ‚“ใ‚Œใ‚“ใ›ใใšใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01340http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1026
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157766.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157669.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4005https://www.nanbyou.or.jp/entry/212
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008029 + skos:altLabel + "HAM" + @en
+ skos:altLabel + "HAM" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024530http://purl.obolibrary.org/obo/MONDO_0008039
skos:prefLabel - "ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "HTLV-1้–ข้€ฃ่„Š้ซ„็—‡" @ja
- - + - - + + - + - + + "ใจใใฏใคใ›ใ„ใใฆใ„ใ‹ใใ›ใฃใ‹ใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200221 +
http://nanbyodata.jp/ontology/NANDO_1200207 (rdf:type owl:Class @@ -18975,72 +22570,86 @@

hasNotificationNumber32hasNotificationNumber27
dcterms:description - "้ชจๆ ผ็ญ‹ใฎ็ญ‹็ทš็ถญๅ†…ใซ็‰นๅพด็š„ใช่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžใŒๅ‡บ็พใ™ใ‚‹ๆฅตใ‚ใฆ็จ€ๅฐ‘ใช้บไผๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ€ๅŽŸๅ› ไธๆ˜Žใงๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚่‡ดๆญปๆ€งๅฟƒ็ญ‹็—‡ใจ้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใƒ‘ใƒใƒผ๏ผˆ็ญ‹ๅŠ›ไฝŽไธ‹ใƒป็ญ‹่Ž็ธฎ๏ผ‰ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช้€ฒ่กŒๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "1930ๅนดใ€ใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…Theodor Fahr๏ผˆ1877๏ฝž1945๏ผ‰ใŒ็—…็†ๅญฆ็š„ใช็—‡ไพ‹ๅ ฑๅ‘Šใ‚’ใ—ใฆใ€ใใฎๅๅ‰ใŒ็—…ๅใซใคใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใƒ•ใ‚กใƒผใƒซ๏ผˆFahr๏ผ‰็—…ใจใ„ใ†็—…ๅใฏ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆ›–ๆ˜งใชใจใ“ใ‚ใŒใ‚ใ‚Šใ€ใ“ใ‚Œใพใงใ‚‚ๅคšใใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใ€ๆตทๅค–ใงใฏfamilial idiopathic basal ganglia calcification๏ผˆFIBGC๏ผ‰ใ€primary familial brain calcification๏ผˆPFBC๏ผ‰ใชใฉๆง˜ใ€…ใชๅ็งฐใŒไฝฟใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€ไธกๅดๅŸบๅบ•ๆ ธใซๆ˜Žใ‚‰ใ‹ใช็—…็š„ใช็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ€ไธ‹่จ˜ใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ใ‚‹้‘‘ๅˆฅ็–พๆ‚ฃใŒใชใ•ใ‚ŒใŸใ‚‚ใฎใ‚’็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆIdiopathic basal ganglia calcification๏ผšIBGC๏ผ‰ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅฎถๆ—ไพ‹๏ผˆๅฎถ็ณปๅ†…ใซ่ค‡ๆ•ฐใฎๅŒๆง˜ใฎๆ‚ฃ่€…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚๏ผ‰ใจๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใ‚„ใ€ๅพŒ่ฟฐใฎ้บไผๅญ็•ฐๅธธใŒๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใฏใ€ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆfamilial Idiopathic basal ganglia calcification๏ผšFIBGC๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ๅฝ“ๅˆใ€ๅญค็™บไพ‹ใจๆ€ใ‚ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ใใฎๅพŒใฎ่‡จๅบŠ็š„ๆคœ็ดขใ‹ใ‚‰ใ€ๅฎถๆ—ไพ‹ใจๅˆคๆ˜Žใ™ใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไปŠๅพŒใ€ๅฎถๆ—ไพ‹ใ‚’ไธปใซๆ›ดใชใ‚‹ๅŽŸๅ› ้บไผๅญใŒๅˆคๆ˜Žใ—ใฆใ„ใใ‚‚ใฎใจๆ€ใ‚ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200221NANDO:1200207
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/032-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/027-201704-kojin.pdf
rdfs:label - "Autophagic vacuolar myopathy" + "Idiopathic basal ganglia calcification" @en
rdfs:label - "่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01781 + rdfs:label + "็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157711.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157865.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3823https://www.nanbyou.or.jp/entry/3839
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "IBGC" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008947
skos:prefLabel - "่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + "็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200222 +
http://nanbyodata.jp/ontology/NANDO_1200208 (rdf:type owl:Class @@ -19048,75 +22657,101 @@

hasNotificationNumber32hasNotificationNumber27
dcterms:identifier1200222NANDO:1200208
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/032-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/027-201704-kojin.pdf
rdfs:label - "Danon disease" + "Familial idiopathic basal ganglia calcification" @en
rdfs:label - "Danon็—…" + "ใ‹ใžใใ›ใ„ใจใฃใฑใคใ›ใ„ใใฆใ„ใ‹ใใ›ใฃใ‹ใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3271http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1923
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00150http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1924
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157711.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01574
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157865.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3823https://www.nanbyou.or.jp/entry/3839
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200221http://nanbyodata.jp/ontology/NANDO_1200207
+ skos:altLabel + "FIBGC" + @en
+ skos:altLabel + "FIBGC" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010281http://purl.obolibrary.org/obo/MONDO_0024538
skos:prefLabel - "Danon็—…" + "ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡" @ja
- - + - - + + + + + + - + - + + "ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200223 +
http://nanbyodata.jp/ontology/NANDO_1200209 (rdf:type owl:Class @@ -19124,77 +22759,79 @@

hasNotificationNumber32hasNotificationNumber28
+ dcterms:description + "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น๏ผˆamyloidosis๏ผ‰ใฏใ€็ทš็ถญๆง‹้€ ใ‚’ใ‚‚ใค่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒใ€ๅ…จ่บซ่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ€€ใ‚ขใƒŸใƒญใ‚คใƒ‰ใฏใ€็—…็†ๅญฆ็š„ใซใ‚ขใƒซใ‚ซใƒชใ‚ณใƒณใ‚ด่ตคๆŸ“่‰ฒใงๆฉ™่ตค่‰ฒใซๆŸ“ใพใ‚Šใ€ๅๅ…‰้ก•ๅพฎ้กไธ‹ใง็ท‘่‰ฒใฎ่ค‡ๅฑˆๆŠ˜ใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่›‹็™ฝ่ณชใŒ็ซ‹ไฝ“ๆง‹้€ ๏ผˆใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ๏ผ‰ใ‚’ๅค‰ๅŒ–ใ•ใ›ใฆใ‚ขใƒŸใƒญใ‚คใƒ‰ใจใ—ใฆๅ‡้›†ใ—็–พๆ‚ฃใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‹ใ‚‰ใ€ใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ็—…ใฎ๏ผ‘ใคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200223NANDO:1200209
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/032-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdf
rdfs:label - "X-linked Myopathy with excessive autophagy" + "Systemic amyloidosis" @en
rdfs:label - "้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3514 + rdfs:label + "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157711.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3823https://www.nanbyou.or.jp/entry/207
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200221
- skos:altLabel - "XMEA" - @enhttp://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010684http://purl.obolibrary.org/obo/MONDO_0017816
skos:prefLabel - "้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + "ใ‚ใ‚“ใˆใใใ‚ใถใ‚Šใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™;ใ‚ใ†ใ˜ใ‚“ใ›ใ„ใจใ‚‰ใ‚“ใ™ใ•ใ„ใ‚Œใกใ‚“ใŒใŸ๏ผˆใฆใƒใƒผใฆใƒใƒผใ‚ใƒผใ‚‹๏ผ‰ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™;ใฏใ‚“ใฎใ†ใ›ใ„ใˆใƒผใˆใƒผใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™" + @ja-Hira - - - - - - + + - + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200224 +
http://nanbyodata.jp/ontology/NANDO_1200210 (rdf:type owl:Class @@ -19202,82 +22839,81 @@

hasNotificationNumber33
- dcterms:description - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค๏ผˆSchwartz-Jampel syndrome๏ผšSJS๏ผ‰ใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ๅˆใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ใ€€SJSใฏใ€1997ๅนดใซGiedionใ‚‰ใซใ‚ˆใ‚Š่‡จๅบŠๅž‹ใ‹ใ‚‰๏ผ‘๏ผกใ€๏ผ‘๏ผขใ€๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใ€‚๏ผ‘๏ผกใจ๏ผ‘๏ผขใฏ้‡็—‡ๅบฆใซใ‚ˆใฃใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€ๆ˜Ž็ขบใชๅŒบๅˆ†ใฏ้›ฃใ—ใ„ใ€‚็ญ‹็—‡็Šถใจ้ชจใ€่ปŸ้ชจ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸ่‡ดๆญปใ‚’ๅ‘ˆใ™ใ‚‹๏ผ’ๅž‹ใฏใ€็พๅœจใงใฏใ€leukemia inhibitory factor receptor๏ผˆLIFR๏ผ‰้บไผๅญๅค‰็•ฐใซ่ตทๅ› ใ™ใ‚‹Stuve-Wiedemann็—‡ๅ€™็พคใจๅŒไธ€ใฎ็–พๆ‚ฃใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier1200224NANDO:1200210
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/033-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdf
rdfs:label - "Schwartz-Jampel syndrome" + "AL amyloidosis; Transthyretin-related senile systemic amyloidosis" @en
rdfs:label - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2703
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01777 + rdfs:label + "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹๏ผˆTTR๏ผ‰ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157716.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3957https://www.nanbyou.or.jp/entry/45
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200209
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009717 + skos:altLabel + "ALใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
+ skos:altLabel + "Immunoglobulin-related amyloidosis" + @en
skos:prefLabel - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" + "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹๏ผˆTTR๏ผ‰ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + + + + + + "ใ‚ใ‚“ใˆใใใ‚ใถใ‚Šใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200225 +
http://nanbyodata.jp/ontology/NANDO_1200211 (rdf:type owl:Class @@ -19285,77 +22921,93 @@

hasNotificationNumber34
- dcterms:description - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹๏ผˆneurofibromatosis type1๏ผšNF1ใ€ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…๏ผ‰ใฏใ€ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจ็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–้ชจใ€็œผใ€็ฅž็ตŒ็ณปใ€๏ผˆๅ‰ฏ่…Žใ€ๆถˆๅŒ–็ฎก๏ผ‰ใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹๏ผˆneurofibromatosis type2๏ผšNF2๏ผ‰ใฏใ€ไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹่ด็ฅž็ตŒ้ž˜่…ซ๏ผˆๅ‰ๅบญ็ฅž็ตŒ้ž˜่…ซ๏ผ‰ใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–ใฎ็ฅž็ตŒ็ณป่…ซ็˜๏ผˆ่„ณๅŠใณ่„Š้ซ„็ฅž็ตŒ้ž˜่…ซใ€้ซ„่†œ่…ซใ€่„Š้ซ„ไธŠ่กฃ่…ซ๏ผ‰ใ‚„็šฎ่†š็—…ๅค‰๏ผˆ็šฎไธ‹ใ‚„็šฎๅ†…ใฎๆœซๆขข็ฅž็ตŒ้ž˜่…ซใ€่‰ฒ็ด ๆ–‘๏ผ‰ใ€็œผ็—…ๅค‰๏ผˆ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier1200225NANDO:1200211
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdf
rdfs:label - "Neurofibromatosis" + "Amyloid light-chain amyloidosis" @en
rdfs:label - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1066 + rdfs:label + "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157717.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5361https://www.nanbyou.or.jp/entry/207
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200210
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018975 + skos:altLabel + "AL amyloidosis" + @en
+ skos:altLabel + "ALใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
+ skos:altLabel + "Immunoglobulin-related amyloidosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021061http://purl.obolibrary.org/obo/MONDO_0019438
skos:prefLabel - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡" + "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + "ใ‚ใ†ใ˜ใ‚“ใ›ใ„ใจใ‚‰ใ‚“ใ™ใ•ใ„ใ‚Œใกใ‚“ใŒใŸใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200226 +
http://nanbyodata.jp/ontology/NANDO_1200212 (rdf:type owl:Class @@ -19363,75 +23015,86 @@

hasNotificationNumber34hasNotificationNumber28
dcterms:identifier1200226NANDO:1200212
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/034-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdf
rdfs:label - "Neurofibromatosis Type 1" + "Transthyretin-related senile systemic amyloidosis" @en
rdfs:label - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1066 + rdfs:label + "่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157717.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3991https://www.nanbyou.or.jp/entry/207
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200225http://nanbyodata.jp/ontology/NANDO_1200210
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018975 + skos:altLabel + "่€ไบบๆ€งTTRใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
+ skos:altLabel + "่€ไบบๆ€งๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021061http://purl.obolibrary.org/obo/MONDO_0018018
skos:prefLabel - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹" + "่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + "ใฏใ‚“ใฎใ†ใ›ใ„ใˆใƒผใˆใƒผใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200227 +
http://nanbyodata.jp/ontology/NANDO_1200213 (rdf:type owl:Class @@ -19439,75 +23102,79 @@

hasNotificationNumber34hasNotificationNumber28
dcterms:identifier1200227NANDO:1200213
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/034-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdf
rdfs:label - "Neurofibromatosis Type 2" + "Reactive AA amyloidosis" @en
rdfs:label - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ…กๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=10 + rdfs:label + "ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157717.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/123https://www.nanbyou.or.jp/entry/207
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200225http://nanbyodata.jp/ontology/NANDO_1200210
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007039 + skos:altLabel + "ๅๅฟœๆ€งAA" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021061http://purl.obolibrary.org/obo/MONDO_0019439
skos:prefLabel - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ…กๅž‹" + "ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200228 +
http://nanbyodata.jp/ontology/NANDO_1200214 (rdf:type owl:Class @@ -19515,77 +23182,91 @@

hasNotificationNumber35
- dcterms:description - "ๅคฉ็–ฑ็˜กใฏใ€็šฎ่†šใƒป็ฒ˜่†œใซ็—…ๅค‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž้–“ใฎๆŽฅ็€ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœ็”Ÿใ˜ใ‚‹ๆฃ˜่ž่งฃ๏ผˆacantholysis๏ผ‰ใซใ‚ˆใ‚‹่กจ็šฎๅ†…ๆฐด็–ฑๅฝขๆˆใ‚’่ชใ‚ใ€ๅ…็–ซ็—…็†ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž่†œ่กจ้ขใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็šฎ่†š็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏๅพช็’ฐ่ก€ไธญใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๅคฉ็–ฑ็˜กๆŠ—ๅŽŸ่›‹็™ฝใฏใ€่กจ็šฎ็ดฐ่ƒž้–“ๆŽฅ็€ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆŒใคใ‚ซใƒ‰ใƒ˜ใƒชใƒณๅž‹็ดฐ่ƒž้–“ๆŽฅ็€ๅ› ๅญใ€ใƒ‡ใ‚นใƒขใ‚ฐใƒฌใ‚คใƒณใงใ‚ใ‚‹ใ€‚ใ€€ๅคฉ็–ฑ็˜กใฏใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใ€ใใฎไป–ใฎ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใใฎไป–ใจใ—ใฆใ€่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜กใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜กใ€็–ฑ็–น็Šถๅคฉ็–ฑ็˜กใ€่–ฌๅ‰ค่ช˜็™บๆ€งๅคฉ็–ฑ็˜กใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier1200228NANDO:1200214
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/028-201704-kojin.pdf
rdfs:label - "Pemphigus" + "Familial amyloid polyneuropathy" @en
rdfs:label - "ๅคฉ็–ฑ็˜ก" + "ใ‹ใžใใ›ใ„ใ‚ใฟใ‚ใ„ใฉใซใ‚…ใƒผใ‚ใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01648http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=75
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157813.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/153https://www.nanbyou.or.jp/entry/207
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200209
+ skos:altLabel + "FAP" + @en
+ skos:altLabel + "FAP" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006594http://purl.obolibrary.org/obo/MONDO_0007100
skos:prefLabel - "ๅคฉ็–ฑ็˜ก" + "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
- - + - - + + + + + + - + - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200229 +
http://nanbyodata.jp/ontology/NANDO_1200215 (rdf:type owl:Class @@ -19593,46 +23274,115 @@

hasNotificationNumber35hasNotificationNumber29
+ dcterms:description + "็”Ÿไธ‹ๆ™‚ๅˆใฏไนณๅ…ๆ—ฉๆœŸใ‹ใ‚‰ใ€้ก”้ข็ญ‹ใ‚’ๅซใ‚€ๅ…จ่ˆฌๆ€งใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใ‚’ๆฅใ™ใ€‚้ ไฝ้–ข็ฏ€ใฎ้Žไผธๅฑ•ใจ่ฟ‘ไฝ้–ข็ฏ€ใฎๆ‹˜็ธฎใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคงๅŠใŒๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€ไธ€้ƒจใซๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ไพ‹ใŒใ‚ใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใฆใŠใ‚Šใ€Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎ้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็ต„็น”ๅญฆ็š„ใซใฏ็ญ‹็ทš็ถญๅฃŠๆญปใƒปๅ†็”Ÿๅค‰ๅŒ–ใŒไนใ—ใใ€ใ„ใ‚ใ‚†ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็•ฐใชใ‚‹็—…ๆ…‹ใŒใ‚ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎไธญ้–ขๅž‹ใจใ‚‚่จ€ใˆใ‚‹็ญ‹็กฌๅŒ–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎๅญ˜ๅœจใ‚’ไธปๅผตใ™ใ‚‹็ ”็ฉถ่€…ใ‚‚ใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€ๆใ‚‰ใไธ€้€ฃใฎใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใงใฏใชใ„ใ‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200229NANDO:1200215
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/029-201704-kojin.pdf
rdfs:label - "ๅคฉ็–ฑ็˜ก๏ผˆๅฐ‹ๅธธๆ€ง๏ผ‰" + "Ullrich disease" + @en
+ rdfs:label + "ใ†ใ‚‹ใ‚Šใฃใฒใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2668
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01778
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157668.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/153https://www.nanbyou.or.jp/entry/4000
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200228http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Ullrich congenital muscular dystrophy" + @en
+ skos:altLabel + "Ullrich's disease" + @en
+ skos:altLabel + "ใ‚ฆใƒซใƒชใƒƒใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000355
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009681
+ skos:prefLabel + "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…" + @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200230 +
http://nanbyodata.jp/ontology/NANDO_1200216 (rdf:type owl:Class @@ -19640,65 +23390,89 @@

hasNotificationNumber35hasNotificationNumber30
+ dcterms:description + "้ ไฝ็ญ‹ใŒๅฅฝใ‚“ใงไพตใ•ใ‚Œใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใฎ็ท็งฐใ€‚ไธ–็•Œ็š„ใซใฏๅฐ‘ใชใใจใ‚‚๏ผ™ใคใฎ็•ฐใชใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใพใงใฎใจใ“ใ‚ใ€ๆœฌ้‚ฆใงใฏใ€Œ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆ้บไผๅฝขๅผไธๆ˜Ž๏ผ‰ใฎ๏ผ“็–พๆ‚ฃใ—ใ‹่ฆ‹ใ„ใ ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ„ใšใ‚Œใ‚‚ๆœฌ้‚ฆใซใŠใ„ใฆ็™บ่ฆ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200230NANDO:1200216
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdf
rdfs:label - "pemphigus foliaceus" + "Distal myopathy" @en
rdfs:label - "ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰" + "ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00594
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02182
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/153https://www.nanbyou.or.jp/entry/4003
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200228http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019324http://purl.obolibrary.org/obo/MONDO_0018949
skos:prefLabel - "ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰" + "้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200231 +
http://nanbyodata.jp/ontology/NANDO_1200217 (rdf:type owl:Class @@ -19706,65 +23480,91 @@

hasNotificationNumber35hasNotificationNumber30
dcterms:identifier1200231NANDO:1200217
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdf
rdfs:label - "Paraneoplastic pemphigus" + "Miyoshi myopathy" @en
rdfs:label - "ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰" + "ใฟใ‚ˆใ—ใŒใŸใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01965
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/153https://www.nanbyou.or.jp/entry/4003
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200228http://nanbyodata.jp/ontology/NANDO_1200216
+ skos:altLabel + "Distal dysferlinopathy" + @en
+ skos:altLabel + "Miyoshi distal myopathy" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018974http://purl.obolibrary.org/obo/MONDO_0009685
skos:prefLabel - "ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰" + "ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200232 +
http://nanbyodata.jp/ontology/NANDO_1200218 (rdf:type owl:Class @@ -19772,65 +23572,118 @@

hasNotificationNumber35hasNotificationNumber30
dcterms:identifier1200232NANDO:1200218
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdf
rdfs:label - "pemphigus vegetans" + "Distal myopathy with rimmed vacuoles" @en
rdfs:label - "ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰" + "ใตใกใฉใ‚Šใใ†ใปใ†ใ‚’ใจใ‚‚ใชใ†ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4392
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=817
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9299
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/153https://www.nanbyou.or.jp/entry/4003
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200228http://nanbyodata.jp/ontology/NANDO_1200216
+ skos:altLabel + "DMRV" + @en
+ skos:altLabel + "GNE myopathy" + @en
+ skos:altLabel + "GNEใƒŸใ‚ชใƒ‘ใƒใƒผ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019322http://purl.obolibrary.org/obo/MONDO_0007827
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011603
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014945
skos:prefLabel - "ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰" + "็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200233 +
http://nanbyodata.jp/ontology/NANDO_1200219 (rdf:type owl:Class @@ -19838,65 +23691,77 @@

hasNotificationNumber35hasNotificationNumber30
dcterms:identifier1200233NANDO:1200219
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/030-201704-kojin.pdf
rdfs:label - "Pemphigus erythematosus" + "Oculopharyngodistal myopathy" @en
rdfs:label - "ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰" + "ใŒใ‚“ใ„ใ‚“ใจใ†ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157670.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/153https://www.nanbyou.or.jp/entry/4003
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200228http://nanbyodata.jp/ontology/NANDO_1200216
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019323http://purl.obolibrary.org/obo/MONDO_0020793
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0025193
skos:prefLabel - "ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰" + "็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200234 +
http://nanbyodata.jp/ontology/NANDO_1200220 (rdf:type owl:Class @@ -19904,77 +23769,84 @@

hasNotificationNumber36hasNotificationNumber31
dcterms:description - "่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ไธปใจใ—ใฆๅ…ˆๅคฉ็š„็ด ๅ› ใซใ‚ˆใ‚Šใ€ๆ—ฅๅธธ็”Ÿๆดปใงๅค–ๅŠ›ใฎๅŠ ใ‚ใ‚‹้ƒจไฝใซๆฐด็–ฑใŒๅๅพฉใ—ใฆ็”Ÿใšใ‚‹ใ“ใจใ‚’ไธปใช่‡จๅบŠ็—‡็Šถใจใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€้บไผๅฝขๅผใ€่‡จๅบŠ็—‡็Šถไธฆใณใซ้›ป้ก•ๆ‰€่ฆ‹ใซๅŸบใฅใ30ไปฅไธŠใฎไบœๅž‹ใซ็ดฐๅˆ†ใ•ใ‚Œใ‚‹ใŒใ€ๅ„ไบœๅž‹้–“ใซๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใ‚’ใพใจใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€๏ผ—ๅž‹ใ€๏ผ”ๅž‹ๅˆใฏ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ใ“ใ‚Œใ‚‰ใฎๅˆ†้กžๆณ•ใฎใ†ใกใ€๏ผ•ๅคง็—…ๅž‹ใ€ใ™ใชใ‚ใกใ€โ‘ ๅ˜็ด”ๅž‹ใ€โ‘กๆŽฅๅˆ้ƒจๅž‹ใ€โ‘ขๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹โ‘ฃๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€ๅŠใณโ‘คใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พคใซๅˆ†ใ‘ใ‚‹ๆ–นๆณ•ใŒๆœ€ๆ–ฐใฎๅˆ†้กžใงใ‚ใ‚‹ใ€‚" + "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹่ฟ‘ไฝ็ญ‹ๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใซๅŠ ใˆใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‚ˆใ‚Šๆ‰‹ๆŒ‡ใƒป่‚˜้–ข็ฏ€ใƒป่ถณ้–ข็ฏ€ใชใฉใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’ไผดใ†ใƒŸใ‚ชใƒ‘ใƒใƒผใงใ‚ใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใงใ‚ใ‚‹ใŒใ€ๆœ€่ฟ‘ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใ€‚ ่‹ฑๅ›ฝใฎ็–ซๅญฆ่ชฟๆŸปใงใฏใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆœ‰็—…็Ž‡0.77๏ผˆ10ไธ‡ๅฏพ๏ผ‰ใงใ‚ใ‚‹ใ€‚Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธญใงใฏใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใŒ้ซ˜้ ปๅบฆใงใ‚ใ‚‹ใ€‚ๅนณๆˆ22ๅนดๅบฆๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ่ฒป่ฃœๅŠฉ้‡‘้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใใฎ้กž็ธ็–พๆ‚ฃใฎๅฎŸๆ…‹่ชฟๆŸป๏ผˆ่ฅฟ้‡Ž็ญ๏ผ‰ใ€ใง็–ซๅญฆ่ชฟๆŸปใŒ่กŒใ‚ใ‚ŒใŸใŒใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆ‚ฃ่€…ๆ•ฐใฏใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎๆ‚ฃ่€…ๆ•ฐใฎ1/10็จ‹ๅบฆใงใ‚ใ‚Šใ€ๆœฌ้‚ฆใงใฏใ€ๅคง้ƒจๅˆ†ใฎไพ‹ใŒๆœช่จบๆ–ญใฎใพใพใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใ€ๆœฌ้‚ฆใ‹ใ‚‰ใฏใ€1989ๅนดใจ1992ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ไธกไพ‹ใจใ‚‚ใซ้บไผๅญฆ็š„ใซ่จบๆ–ญใŒ็ขบๅฎšใ—ใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier1200234NANDO:1200220
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/031-201704-kojin.pdf
rdfs:label - "Epidermolysis bullosa" + "Bethlem Myopathy" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡" + "ในใ™ใ‚Œใ‚€ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01737https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01340
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157766.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5338https://www.nanbyou.or.jp/entry/4006
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006541http://purl.obolibrary.org/obo/MONDO_0008029
skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡" + "ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200235 +
http://nanbyodata.jp/ontology/NANDO_1200221 (rdf:type owl:Class @@ -19982,70 +23854,79 @@

hasNotificationNumber36hasNotificationNumber32
+ dcterms:description + "้ชจๆ ผ็ญ‹ใฎ็ญ‹็ทš็ถญๅ†…ใซ็‰นๅพด็š„ใช่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžใŒๅ‡บ็พใ™ใ‚‹ๆฅตใ‚ใฆ็จ€ๅฐ‘ใช้บไผๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ€ๅŽŸๅ› ไธๆ˜Žใงๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚่‡ดๆญปๆ€งๅฟƒ็ญ‹็—‡ใจ้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใƒ‘ใƒใƒผ๏ผˆ็ญ‹ๅŠ›ไฝŽไธ‹ใƒป็ญ‹่Ž็ธฎ๏ผ‰ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช้€ฒ่กŒๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200235NANDO:1200221
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/032-201704-kojin.pdf
rdfs:label - "Epidermolysis bullosa simplex" + "Autophagic vacuolar myopathy" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰" + "ใ˜ใ“ใฉใ‚“ใ—ใ‚‡ใใใ†ใปใ†ใ›ใ„ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00584https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01781
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157711.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5338https://www.nanbyou.or.jp/entry/3824
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200234
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017610http://nanbyodata.jp/ontology/NANDO_1100001
skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰" + "่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200236 +
http://nanbyodata.jp/ontology/NANDO_1200222 (rdf:type owl:Class @@ -20053,70 +23934,89 @@

hasNotificationNumber36hasNotificationNumber32
dcterms:identifier1200236NANDO:1200222
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/032-201704-kojin.pdf
rdfs:label - "Junctional epidermolysis bullosa" + "Danon disease" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰" + "ใ ใฎใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ€ใƒŽใƒณ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00586http://nanbyodata.jp/ontology/NANDO_1200145
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3271
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157711.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5338https://www.nanbyou.or.jp/entry/3824
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200234http://nanbyodata.jp/ontology/NANDO_1200221
+ skos:altLabel + "Danon็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017612http://purl.obolibrary.org/obo/MONDO_0010281
skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰" + "ใƒ€ใƒŽใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200237 +
http://nanbyodata.jp/ontology/NANDO_1200223 (rdf:type owl:Class @@ -20124,70 +24024,91 @@

hasNotificationNumber36hasNotificationNumber32
dcterms:identifier1200237NANDO:1200223
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/032-201704-kojin.pdf
rdfs:label - "Dominant dystrophic epidermolysis bullosa" + "X-linked Myopathy with excessive autophagy" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰" + "ใ‹ใ˜ใ‚‡ใ†ใ˜ใ“ใฉใ‚“ใ—ใ‚‡ใใ‚’ใจใ‚‚ใชใ†ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=541http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3514
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157711.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5338https://www.nanbyou.or.jp/entry/3824
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200234http://nanbyodata.jp/ontology/NANDO_1200221
+ skos:altLabel + "XMEA" + @en
+ skos:altLabel + "XMEA" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007549http://purl.obolibrary.org/obo/MONDO_0010684
skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰" + "้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200238 +
http://nanbyodata.jp/ontology/NANDO_1200224 (rdf:type owl:Class @@ -20195,70 +24116,108 @@

hasNotificationNumber36hasNotificationNumber33
+ dcterms:description + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค๏ผˆSchwartz-Jampel syndrome๏ผšSJS๏ผ‰ใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ๅˆใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ใ€€SJSใฏใ€1997ๅนดใซGiedionใ‚‰ใซใ‚ˆใ‚Š่‡จๅบŠๅž‹ใ‹ใ‚‰๏ผ‘๏ผกใ€๏ผ‘๏ผขใ€๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใ€‚๏ผ‘๏ผกใจ๏ผ‘๏ผขใฏ้‡็—‡ๅบฆใซใ‚ˆใฃใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€ๆ˜Ž็ขบใชๅŒบๅˆ†ใฏ้›ฃใ—ใ„ใ€‚็ญ‹็—‡็Šถใจ้ชจใ€่ปŸ้ชจ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸ่‡ดๆญปใ‚’ๅ‘ˆใ™ใ‚‹๏ผ’ๅž‹ใฏใ€็พๅœจใงใฏใ€leukemia inhibitory factor receptor๏ผˆLIFR๏ผ‰้บไผๅญๅค‰็•ฐใซ่ตทๅ› ใ™ใ‚‹Stuve-Wiedemann็—‡ๅ€™็พคใจๅŒไธ€ใฎ็–พๆ‚ฃใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200238NANDO:1200224
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/033-201704-kojin.pdf
rdfs:label - "Recessive dystrophic epidermolysis bullosa" + "Schwartz-Jampel syndrome" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰" + "ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2165http://nanbyodata.jp/ontology/NANDO_2200876
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2703
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01777
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157716.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5338https://www.nanbyou.or.jp/entry/3958
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200234http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "SJS" + @en
+ skos:altLabel + "Schwartz-Jampel็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009179http://purl.obolibrary.org/obo/MONDO_0009717
skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰" + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - - + + - - + + + "ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200239 +
http://nanbyodata.jp/ontology/NANDO_1200225 (rdf:type owl:Class @@ -20266,75 +24225,84 @@

hasNotificationNumber36hasNotificationNumber34
- dcterms:identifier1200239 + dcterms:description + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹๏ผˆneurofibromatosis type1๏ผšNF1ใ€ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…๏ผ‰ใฏใ€ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจ็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–้ชจใ€็œผใ€็ฅž็ตŒ็ณปใ€๏ผˆๅ‰ฏ่…Žใ€ๆถˆๅŒ–็ฎก๏ผ‰ใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹๏ผˆneurofibromatosis type2๏ผšNF2๏ผ‰ใฏใ€ไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹่ด็ฅž็ตŒ้ž˜่…ซ๏ผˆๅ‰ๅบญ็ฅž็ตŒ้ž˜่…ซ๏ผ‰ใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–ใฎ็ฅž็ตŒ็ณป่…ซ็˜๏ผˆ่„ณๅŠใณ่„Š้ซ„็ฅž็ตŒ้ž˜่…ซใ€้ซ„่†œ่…ซใ€่„Š้ซ„ไธŠ่กฃ่…ซ๏ผ‰ใ‚„็šฎ่†š็—…ๅค‰๏ผˆ็šฎไธ‹ใ‚„็šฎๅ†…ใฎๆœซๆขข็ฅž็ตŒ้ž˜่…ซใ€่‰ฒ็ด ๆ–‘๏ผ‰ใ€็œผ็—…ๅค‰๏ผˆ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdf + dcterms:identifierNANDO:1200225
rdfs:label - "Kindler syndrome" + "Neurofibromatosis" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1231 + rdfs:label + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00588http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1066
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157717.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5338https://www.nanbyou.or.jp/entry/5361
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200234http://nanbyodata.jp/ontology/NANDO_1100003
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008260http://purl.obolibrary.org/obo/MONDO_0018975
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021061
skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰" + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - + + - + - +
http://nanbyodata.jp/ontology/nando#1200240 +
http://nanbyodata.jp/ontology/NANDO_1200226 (rdf:type owl:Class @@ -20342,94 +24310,96 @@

hasNotificationNumber37
- dcterms:description - "ไนพ็™ฌใซใฏใ€ๆœ€ใ‚‚็™บ็—‡้ ปๅบฆใฎ้ซ˜ใ„ๅฐ‹ๅธธๆ€งไนพ็™ฌใฎไป–ใซไบœๅž‹ใจใ—ใฆใ€ไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผˆ้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ๏ผ‰ใ€ไนพ็™ฌๆ€ง็ด…็šฎ็—‡ใ€่†ฟ็–ฑๆ€งไนพ็™ฌใŒใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎ่†ฟ็–ฑๆ€งไนพ็™ฌใซใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้™ๅฑ€ๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆŽŒ่น ่†ฟ็–ฑ็—‡ใ€ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž๏ผ‰ใŒใ‚ใ‚Šใ€ๆœฌ็จฟใงๅ–ใ‚Šๆ‰ฑใ†ใฎใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใซใฏๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆvon Zumbuschๅž‹๏ผ‰ใ€ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใ€็–ฑ็–นๆ€ง่†ฟ็—‚็–นใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚von Zumbuschๅž‹ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎไป–ใฎๅž‹ใงใฏใ€ๅ…จ่บซ็—‡็Šถใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใง็ด…ๆ–‘ใจ่†ฟ็–ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ใ€€็ตŒ้Žไธญใซใ€ๅ…จ่บซ็‚Ž็—‡ๅๅฟœใซไผดใฃใฆ่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ๅฟƒใƒปๅพช็’ฐๅ™จไธๅ…จใ€ๅ‘ผๅธๅ™จไธๅ…จใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€่†ฟ็–ฑๅž‹่–ฌ็–น๏ผˆๆ€ฅๆ€งๆฑŽ็™บๆ€ง็™บ็–นๆ€ง่†ฟ็–ฑ็—‡๏ผˆacute generalized exanthematous pustulosis๏ผšAGEP๏ผ‰ใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ‚„่ง’ๅฑคไธ‹่†ฟ็–ฑ็—‡ใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber34
dcterms:identifier1200240NANDO:1200226
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/034-01-201704-kojin.pdf
rdfs:label - "Pustular Psoriasis" + "Neurofibromatosis type 1" @en
rdfs:label - "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + "ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7903http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1066
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157717.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/168https://www.nanbyou.or.jp/entry/3992
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200225
skos:altLabel - "Generalized Pustular Psoriasis" + "NF1" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013626 + skos:altLabel + "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016597http://purl.obolibrary.org/obo/MONDO_0018975
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022205http://purl.obolibrary.org/obo/MONDO_0021061
skos:prefLabel - "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200241 +
http://nanbyodata.jp/ontology/NANDO_1200227 (rdf:type owl:Class @@ -20437,74 +24407,94 @@

hasNotificationNumber37hasNotificationNumber34
dcterms:identifier1200241NANDO:1200227
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/034-02-201704-kojin.pdf
rdfs:label - "Acuteย generalized pustular psoriasis" + "Neurofibromatosis type 2" @en
rdfs:label - "ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" + "ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=10
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/168https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01438
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157717.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/275
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200240http://nanbyodata.jp/ontology/NANDO_1200225
skos:altLabel - "Acuteย generalized pustular psoriasis,ย von Zumbuschย type" + "NF2" @en
- skos:altLabel - "von Zumbusch ๅž‹" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007039
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021061
skos:prefLabel - "ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200242 +
http://nanbyodata.jp/ontology/NANDO_1200228 (rdf:type owl:Class @@ -20512,60 +24502,84 @@

hasNotificationNumber37hasNotificationNumber35
+ dcterms:description + "ๅคฉ็–ฑ็˜กใฏใ€็šฎ่†šใƒป็ฒ˜่†œใซ็—…ๅค‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž้–“ใฎๆŽฅ็€ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœ็”Ÿใ˜ใ‚‹ๆฃ˜่ž่งฃ๏ผˆacantholysis๏ผ‰ใซใ‚ˆใ‚‹่กจ็šฎๅ†…ๆฐด็–ฑๅฝขๆˆใ‚’่ชใ‚ใ€ๅ…็–ซ็—…็†ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž่†œ่กจ้ขใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็šฎ่†š็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏๅพช็’ฐ่ก€ไธญใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๅคฉ็–ฑ็˜กๆŠ—ๅŽŸ่›‹็™ฝใฏใ€่กจ็šฎ็ดฐ่ƒž้–“ๆŽฅ็€ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆŒใคใ‚ซใƒ‰ใƒ˜ใƒชใƒณๅž‹็ดฐ่ƒž้–“ๆŽฅ็€ๅ› ๅญใ€ใƒ‡ใ‚นใƒขใ‚ฐใƒฌใ‚คใƒณใงใ‚ใ‚‹ใ€‚ใ€€ๅคฉ็–ฑ็˜กใฏใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใ€ใใฎไป–ใฎ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใใฎไป–ใจใ—ใฆใ€่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜กใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜กใ€็–ฑ็–น็Šถๅคฉ็–ฑ็˜กใ€่–ฌๅ‰ค่ช˜็™บๆ€งๅคฉ็–ฑ็˜กใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200242NANDO:1200228
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdf
rdfs:label - "Infantile generalized pustular psoriasis" + "Pemphigus" @en
rdfs:label - "ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" + "ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira
+ rdfs:label + "ๅคฉ็–ฑ็˜ก" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01648
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/168https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/300
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200240http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006594
skos:prefLabel - "ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" + "ๅคฉ็–ฑ็˜ก" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + - -
http://nanbyodata.jp/ontology/nando#1200243 +
http://nanbyodata.jp/ontology/NANDO_1200229 (rdf:type owl:Class @@ -20573,60 +24587,84 @@

hasNotificationNumber37hasNotificationNumber35
dcterms:identifier1200243NANDO:1200229
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdf
rdfs:label - "Impetigo Herpesformis" + "Pemphigus vulgaris" @en
rdfs:label - "็–ฑ็–น็Šถ่†ฟ็—‚็–น" + "ใ˜ใ‚“ใ˜ใ‚‡ใ†ใ›ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira
+ rdfs:label + "ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜ก" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1199
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/168https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/300
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200240http://nanbyodata.jp/ontology/NANDO_1200228
- skos:prefLabel + skos:altLabel - "็–ฑ็–น็Šถ่†ฟ็—‚็–น" + "ๅคฉ็–ฑ็˜ก๏ผˆๅฐ‹ๅธธๆ€ง๏ผ‰" @ja
- - - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200244 +
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008219
+ skos:prefLabel + "ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜ก" + @ja
+ + + - - + + - + - + + "ใ‚‰ใใ‚ˆใ†ใ˜ใ‚‡ใ†ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira - - + + - + - + - + + "ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰" + @ja - +
http://nanbyodata.jp/ontology/NANDO_1200230 (rdf:type owl:Class @@ -20634,77 +24672,79 @@

hasNotificationNumber37hasNotificationNumber35
dcterms:identifier1200244NANDO:1200230
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdf
rdfs:label - "Acrodermatitis Continua of Hallopeau" + "Pemphigus foliaceus" @en
rdfs:label - "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7903 + rdfs:label + "่ฝ่‘‰็Šถๅคฉ็–ฑ็˜ก" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/168https://www.nanbyou.or.jp/entry/300
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200240http://nanbyodata.jp/ontology/NANDO_1200228
skos:altLabel - "Generalized Acrodermatitis Continua of Hallopeau" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013626http://purl.obolibrary.org/obo/MONDO_0019324
skos:prefLabel - "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–" + "่ฝ่‘‰็Šถๅคฉ็–ฑ็˜ก" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200245 +
http://nanbyodata.jp/ontology/NANDO_1200231 (rdf:type owl:Class @@ -20712,72 +24752,79 @@

hasNotificationNumber38
- dcterms:description - "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJSใ€็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใ€ๆฐด็–ฑใŒๅคš็™บใ—ใ€่กจ็šฎใฎๅฃŠๆญปๆ€ง้šœๅฎณใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber35
dcterms:identifier1200245NANDO:1200231
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/038-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdf
rdfs:label - "Stevens-Johnson syndrome" + "Paraneoplastic pemphigus" @en
rdfs:label - "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใ—ใ‚…ใ‚ˆใ†ใšใ„ใฏใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira
+ rdfs:label + "่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜ก" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198046.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4073https://www.nanbyou.or.jp/entry/300
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200228
+ skos:altLabel + "ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018229http://purl.obolibrary.org/obo/MONDO_0018974
skos:prefLabel - "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + "่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜ก" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200246 +
http://nanbyodata.jp/ontology/NANDO_1200232 (rdf:type owl:Class @@ -20785,72 +24832,79 @@

hasNotificationNumber39
- dcterms:description - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆToxic epidermal necrolysis๏ผšTEN๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใŒๅบƒ็ฏ„ๅ›ฒใซๅ‡บ็พใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TENใฏใ€ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJS๏ผ‰ใ‹ใ‚‰้€ฒๅฑ•ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚" - @jahasNotificationNumber35
dcterms:identifier1200246NANDO:1200232
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdf
rdfs:label - "Toxic epidermal necrolysis" + "Pemphigus vegetans" @en
rdfs:label - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" + "ใžใ†ใ—ใ‚‡ใใ›ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira
+ rdfs:label + "ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜ก" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4036https://www.nanbyou.or.jp/entry/300
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200228
+ skos:altLabel + "ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019810http://purl.obolibrary.org/obo/MONDO_0019322
skos:prefLabel - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" + "ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜ก" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200247 +
http://nanbyodata.jp/ontology/NANDO_1200233 (rdf:type owl:Class @@ -20858,67 +24912,86 @@

hasNotificationNumber39hasNotificationNumber35
dcterms:identifier1200247NANDO:1200233
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/035-201704-kojin.pdf
rdfs:label - "toxic epidermal necrolysis with spots" + "Pemphigus erythematosus" @en
rdfs:label - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰" + "ใ“ใ†ใฏใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira
+ rdfs:label + "็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜ก" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198042.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4036https://www.nanbyou.or.jp/entry/300
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200246http://nanbyodata.jp/ontology/NANDO_1200228
skos:altLabel - "TEN without maclues" + "Senear-Usher syndrome" @en
+ skos:altLabel + "ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019323
skos:prefLabel - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰" + "็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜ก" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200248 +
http://nanbyodata.jp/ontology/NANDO_1200234 (rdf:type owl:Class @@ -20926,67 +24999,94 @@

hasNotificationNumber39hasNotificationNumber36
+ dcterms:description + "่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ไธปใจใ—ใฆๅ…ˆๅคฉ็š„็ด ๅ› ใซใ‚ˆใ‚Šใ€ๆ—ฅๅธธ็”Ÿๆดปใงๅค–ๅŠ›ใฎๅŠ ใ‚ใ‚‹้ƒจไฝใซๆฐด็–ฑใŒๅๅพฉใ—ใฆ็”Ÿใšใ‚‹ใ“ใจใ‚’ไธปใช่‡จๅบŠ็—‡็Šถใจใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€้บไผๅฝขๅผใ€่‡จๅบŠ็—‡็Šถไธฆใณใซ้›ป้ก•ๆ‰€่ฆ‹ใซๅŸบใฅใ30ไปฅไธŠใฎไบœๅž‹ใซ็ดฐๅˆ†ใ•ใ‚Œใ‚‹ใŒใ€ๅ„ไบœๅž‹้–“ใซๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใ‚’ใพใจใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€๏ผ—ๅž‹ใ€๏ผ”ๅž‹ๅˆใฏ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ใ“ใ‚Œใ‚‰ใฎๅˆ†้กžๆณ•ใฎใ†ใกใ€๏ผ•ๅคง็—…ๅž‹ใ€ใ™ใชใ‚ใกใ€โ‘ ๅ˜็ด”ๅž‹ใ€โ‘กๆŽฅๅˆ้ƒจๅž‹ใ€โ‘ขๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹โ‘ฃๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€ๅŠใณโ‘คใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พคใซๅˆ†ใ‘ใ‚‹ๆ–นๆณ•ใŒๆœ€ๆ–ฐใฎๅˆ†้กžใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200248NANDO:1200234
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdf
rdfs:label - "toxic epidermal necrolysis without spots" + "Epidermolysis bullosa" @en
rdfs:label - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰" + "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docxhttp://nanbyodata.jp/ontology/NANDO_2201000
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00585
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01737
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4036https://www.nanbyou.or.jp/entry/5339
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200246http://nanbyodata.jp/ontology/NANDO_1100003
- skos:altLabel - "TEN on large erythema " - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006541
skos:prefLabel - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰" + "่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + + + + + - + - + - - + + - -
http://nanbyodata.jp/ontology/nando#1200249 +
http://nanbyodata.jp/ontology/NANDO_1200235 (rdf:type owl:Class @@ -20994,93 +25094,96 @@

hasNotificationNumber39hasNotificationNumber36
dcterms:identifier1200249NANDO:1200235
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdf
rdfs:label - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰" + "Epidermolysis bullosa simplex" + @en
+ rdfs:label + "ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docxhttp://nanbyodata.jp/ontology/NANDO_2201341
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4036https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00584
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200246 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docx
- - - - - + + - - + + - - + + - + - - - - - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200250 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber39 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5339
- dcterms:identifier1200250 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200234
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdf + skos:altLabel + "EBS" + @en
- rdfs:label + skos:altLabel - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰" + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4036 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017610
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200246 + skos:prefLabel + "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - + - - - - + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰" + @ja - +
http://nanbyodata.jp/ontology/nando#1200251 +
http://nanbyodata.jp/ontology/NANDO_1200236 (rdf:type owl:Class @@ -21088,96 +25191,96 @@

hasNotificationNumber40
- dcterms:description - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใฏๅคงๅ‹•่„ˆๅŠใณใใฎไธป่ฆๅˆ†ๆžใ‚„่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‚Ž็—‡ๆ€งๅฃ่‚ฅๅŽšใ‚’ใใŸใ—ใ€ใพใŸใใฎ็ตๆžœใจใ—ใฆ็‹ญ็ช„ใ€้–‰ๅกžใพใŸใฏๆ‹กๅผต็—…ๅค‰ใ‚’ๆฅใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐ็š„ๅคงๅž‹่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใพใŸใฏ้–‰ๅกžใ‚’ๆฅใ—ใŸๅ‹•่„ˆใฎๆ”ฏ้…่‡“ๅ™จใซ็‰นๆœ‰ใฎ่™š่ก€้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏ้€†ใซๆ‹กๅผต็—…ๅค‰ใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใŒใใฎ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ็”Ÿใ˜ใŸ่ก€็ฎก้ ˜ๅŸŸใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่บซใฎ่ซธ่‡“ๅ™จใซๅคšๅฝฉใช็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใง้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค๏ผ‰ใจใ•ใ‚Œใฆใ„ใŸใŒๅ›ฝ้š›ๅˆ†้กžใซๆฒฟใฃใฆใ€้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจ็ตฑไธ€ใ—ใŸใ€‚ใพใŸใ€ๆฉˆ้ชจๅ‹•่„ˆ่„ˆๆ‹ใฎๆถˆๅคฑใŒใ‚ˆใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€่„ˆ็„กใ—็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅใฏใ€1908ๅนดใซๆœฌ็–พๆ‚ฃใ‚’็™บ่ฆ‹ใ—ใŸ้‡‘ๆฒขๅคงๅญฆ็œผ็ง‘ใฎ้ซ˜ๅฎ‰ๅณไบบๅšๅฃซใฎๅใซ็”ฑๆฅใ™ใ‚‹ใ€‚" - @jahasNotificationNumber36
dcterms:identifier1200251NANDO:1200236
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdf
rdfs:label - "Takayasu's Arteritis" + "Junctional epidermolysis bullosa" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" + "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775http://nanbyodata.jp/ontology/NANDO_2201342
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00586
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/141https://www.nanbyou.or.jp/entry/5339
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200234
skos:altLabel - "Aortitis syndrome" + "JEB" @en
skos:altLabel - "Takayasu arteritis" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006656
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991http://purl.obolibrary.org/obo/MONDO_0017612
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" + "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200252 +
http://nanbyodata.jp/ontology/NANDO_1200237 (rdf:type owl:Class @@ -21185,60 +25288,79 @@

hasNotificationNumber40hasNotificationNumber36
dcterms:identifier1200252NANDO:1200237
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdf
rdfs:label - "Type I Takayasu arteritis" + "Dominant dystrophic epidermolysis bullosa" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰" + "ใ‚†ใ†ใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docxhttp://nanbyodata.jp/ontology/NANDO_2201382
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/141https://www.nanbyou.or.jp/entry/5339
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200251http://nanbyodata.jp/ontology/NANDO_1200234
+ skos:altLabel + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰" + @ja
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰" + "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200253 +
http://nanbyodata.jp/ontology/NANDO_1200238 (rdf:type owl:Class @@ -21246,60 +25368,98 @@

hasNotificationNumber40hasNotificationNumber36
dcterms:identifier1200253NANDO:1200238
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdf
rdfs:label - "Type โ…กa Takayasu arteritis" + "Recessive dystrophic epidermolysis bullosa" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กaๅž‹๏ผ‰" + "ใ‚Œใฃใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2165
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/141https://www.nanbyou.or.jp/entry/5339
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200251http://nanbyodata.jp/ontology/NANDO_1200234
+ skos:altLabel + "RDEB" + @en
+ skos:altLabel + "Recessive DEB" + @en
+ skos:altLabel + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009179
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กaๅž‹๏ผ‰" + "ๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200254 +
http://nanbyodata.jp/ontology/NANDO_1200239 (rdf:type owl:Class @@ -21307,60 +25467,89 @@

hasNotificationNumber40hasNotificationNumber36
dcterms:identifier1200254NANDO:1200239
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/036-201704-kojin.pdf
rdfs:label - "Type โ…กb Takayasu arteritis" + "Kindler syndrome" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กbๅž‹๏ผ‰" + "ใใ‚“ใฉใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1231
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/141https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00588
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157760.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5339
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200251http://nanbyodata.jp/ontology/NANDO_1200234
+ skos:altLabel + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008260
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กbๅž‹๏ผ‰" + "ใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200255 +
http://nanbyodata.jp/ontology/NANDO_1200240 (rdf:type owl:Class @@ -21368,60 +25557,108 @@

hasNotificationNumber40hasNotificationNumber37
+ dcterms:description + "ไนพ็™ฌใซใฏใ€ๆœ€ใ‚‚็™บ็—‡้ ปๅบฆใฎ้ซ˜ใ„ๅฐ‹ๅธธๆ€งไนพ็™ฌใฎไป–ใซไบœๅž‹ใจใ—ใฆใ€ไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผˆ้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ๏ผ‰ใ€ไนพ็™ฌๆ€ง็ด…็šฎ็—‡ใ€่†ฟ็–ฑๆ€งไนพ็™ฌใŒใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎ่†ฟ็–ฑๆ€งไนพ็™ฌใซใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้™ๅฑ€ๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆŽŒ่น ่†ฟ็–ฑ็—‡ใ€ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž๏ผ‰ใŒใ‚ใ‚Šใ€ๆœฌ็จฟใงๅ–ใ‚Šๆ‰ฑใ†ใฎใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใซใฏๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆvon Zumbuschๅž‹๏ผ‰ใ€ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใ€็–ฑ็–นๆ€ง่†ฟ็—‚็–นใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚von Zumbuschๅž‹ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎไป–ใฎๅž‹ใงใฏใ€ๅ…จ่บซ็—‡็Šถใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใง็ด…ๆ–‘ใจ่†ฟ็–ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ใ€€็ตŒ้Žไธญใซใ€ๅ…จ่บซ็‚Ž็—‡ๅๅฟœใซไผดใฃใฆ่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ๅฟƒใƒปๅพช็’ฐๅ™จไธๅ…จใ€ๅ‘ผๅธๅ™จไธๅ…จใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€่†ฟ็–ฑๅž‹่–ฌ็–น๏ผˆๆ€ฅๆ€งๆฑŽ็™บๆ€ง็™บ็–นๆ€ง่†ฟ็–ฑ็—‡๏ผˆacute generalized exanthematous pustulosis๏ผšAGEP๏ผ‰ใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ‚„่ง’ๅฑคไธ‹่†ฟ็–ฑ็—‡ใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200255NANDO:1200240
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdf
rdfs:label - "Type โ…ข Takayasu arteritis" + "Pustular psoriasis" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ขๅž‹๏ผ‰" + "ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docxhttp://nanbyodata.jp/ontology/NANDO_2201001
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01663
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/141https://www.nanbyou.or.jp/entry/168
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200251http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:altLabel + "GPP" + @en
+ skos:altLabel + "Generalized pustular psoriasis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016597
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022205
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ขๅž‹๏ผ‰" + "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200256 +
http://nanbyodata.jp/ontology/NANDO_1200241 (rdf:type owl:Class @@ -21429,60 +25666,93 @@

hasNotificationNumber40hasNotificationNumber37
dcterms:identifier1200256NANDO:1200241
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdf
rdfs:label - "Type โ…ฃ Takayasu arteritis" + "Acute generalized pustular psoriasis" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ฃๅž‹๏ผ‰" + "ใใ‚…ใ†ใ›ใ„ใฏใ‚“ใฑใคใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/141https://www.nanbyou.or.jp/entry/313
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200251http://nanbyodata.jp/ontology/NANDO_1200240
+ skos:altLabel + "AGEP" + @en
+ skos:altLabel + "Acute generalized pustular psoriasis, von Zumbusch type" + @en
+ skos:altLabel + "von Zumbuschๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016597
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ฃๅž‹๏ผ‰" + "ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200257 +
http://nanbyodata.jp/ontology/NANDO_1200242 (rdf:type owl:Class @@ -21490,60 +25760,72 @@

hasNotificationNumber40hasNotificationNumber37
dcterms:identifier1200257NANDO:1200242
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdf
rdfs:label - "Type โ…ค Takayasu arteritis" + "Childhood generalized pustular psoriasis" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…คๅž‹๏ผ‰" + "ใ—ใ‚‡ใ†ใซใฏใ‚“ใฑใคใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/141https://www.nanbyou.or.jp/entry/168
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200251http://nanbyodata.jp/ontology/NANDO_1200240
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016597
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…คๅž‹๏ผ‰" + "ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ" @ja
- - + - - - - - - + + - + - + - - - - + "ใปใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฎใ†ใ‹ใ—ใ‚“" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200258 +
http://nanbyodata.jp/ontology/NANDO_1200243 (rdf:type owl:Class @@ -21551,82 +25833,72 @@

hasNotificationNumber41
- dcterms:description - "ๅคงๅž‹ใƒปไธญๅž‹ใฎๅ‹•่„ˆใซๅทจ็ดฐ่ƒžใ‚’ไผดใ†่‚‰่Šฝ่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ๅ‹•่„ˆ็‚Žใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžใ€็‰นใซๅค–้ šๅ‹•่„ˆใ‚’้ซ˜ใ„้ ปๅบฆใงๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅด้ ญๅ‹•่„ˆใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ไปฅๅ‰ใฏใ€Œๅด้ ญๅ‹•่„ˆ็‚Žใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€็พๅœจใฏใ€Œๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Žใ€ใจใใฎๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚50ๆญณไปฅไธŠใฎ้ซ˜้ฝข่€…ใซ็™บ็—‡ใ—ใ€่‹ฅๅนด่€…ใซ็™บ็—‡ใ™ใ‚‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅฏพ็…ง็š„ใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ’๏ฝž๏ผ“ใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใƒชใ‚ฆใƒžใƒๆ€งๅคš็™บ็ญ‹็—›็—‡ใ‚’ไผดใ„ใ€ๅพŒ่ฟฐใ™ใ‚‹ใ‚ˆใ†ใซไธก่€…ใฏๆฅตใ‚ใฆ่ฟ‘ไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅœฐ็†็š„ใชๅใ‚ŠๅŠใณ้บไผ็ด ๅ› ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ๆฌง็ฑณ็™ฝไบบใซๅคšใใ€ๆ—ฅๆœฌใ‚’ๅซใ‚ใ‚ขใ‚ธใ‚ขไบบใซใฏๅฐ‘ใชใ„ใ€‚" - @jahasNotificationNumber37
dcterms:identifier1200258NANDO:1200243
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/041-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdf
rdfs:label - "Giant cell arteritis" + "Impetigo herpetiformis" @en
rdfs:label - "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1510
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01698 + rdfs:label + "็–ฑ็–น็Šถ่†ฟ็—‚็–น" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000161229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3928https://www.nanbyou.or.jp/entry/313
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200240
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008538http://purl.obolibrary.org/obo/MONDO_0004591
skos:prefLabel - "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž" + "็–ฑ็–น็Šถ่†ฟ็—‚็–น" @ja
- - + - - + + - + - + + + + + + + + + - + + + + + - + - + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200259 +
http://nanbyodata.jp/ontology/NANDO_1200244 (rdf:type owl:Class @@ -21634,46 +25906,98 @@

hasNotificationNumber41hasNotificationNumber37
dcterms:identifier1200259NANDO:1200244
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/041-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/037-201704-kojin.pdf
+ rdfs:label + "Acrodermatitis continua of Hallopeau" + @en
+ rdfs:label + "ใ‘ใ„ใ‚Šใ‚…ใ†ใ›ใ„ใ—ใŸใ‚“ใฒใตใˆใ‚“ใฎใฏใ‚“ใฑใคใ‹" + @ja-Hira
rdfs:label - "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใจใ‚™ใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰" + "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000161229.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7903
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198043.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3928https://www.nanbyou.or.jp/entry/168
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200258http://nanbyodata.jp/ontology/NANDO_1200240
+ skos:altLabel + "Generalized acrodermatitis continua of Hallopeau" + @en
+ skos:altLabel + "ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–" + @ja
+ skos:altLabel + "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽๆฑŽ็™บๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013626
+ skos:prefLabel + "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–" + @ja
- - + - - + + + + + + - + - + + + + + + + + + - + + + + + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200260 +
http://nanbyodata.jp/ontology/NANDO_1200245 (rdf:type owl:Class @@ -21681,46 +26005,98 @@

hasNotificationNumber41hasNotificationNumber38
+ dcterms:description + "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJSใ€็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใ€ๆฐด็–ฑใŒๅคš็™บใ—ใ€่กจ็šฎใฎๅฃŠๆญปๆ€ง้šœๅฎณใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200260NANDO:1200245
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/041-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/038-201804-kojin.pdf
+ rdfs:label + "Stevens-Johnson syndrome" + @en
rdfs:label - "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใ™ใ‚™ๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใจใ‚™ใซใ‚‚ๅˆ†ๅธƒ๏ผ‰" + "ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000161229.docxhttp://nanbyodata.jp/ontology/NANDO_2201006
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198046.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3928https://www.nanbyou.or.jp/entry/4074
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200258http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:altLabel + "SJS" + @en
+ skos:altLabel + "็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018229
+ skos:prefLabel + "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200261 +
http://nanbyodata.jp/ontology/NANDO_1200246 (rdf:type owl:Class @@ -21728,77 +26104,91 @@

hasNotificationNumber42hasNotificationNumber39
dcterms:description - "ๅ‹•่„ˆใฏ่ก€็ฎกๅพ„ใซใ‚ˆใ‚Šใ€ๅคงๅž‹ใ€ไธญๅž‹ใ€ๅฐๅž‹ใ€ๆฏ›็ดฐ่ก€็ฎกใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใฏใ€ไธญๅž‹่ก€็ฎกใ‚’ไธปไฝ“ใจใ—ใฆใ€่ก€็ฎกๅฃใซ็‚Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰ใฏไธ€ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใŸ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใฏใ€ๆฏ›็ดฐ่ก€็ฎกใ‚’ไธปไฝ“ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฏใ€็•ฐใชใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใ‚‚่ก€ๆธ…ไธญใซใฏๆคœๅ‡บใ•ใ‚Œใšใ€็พๆ™‚็‚นใงใฏใ€ใ“ใฎ็–พๆ‚ฃใซๅฏพใ™ใ‚‹็‰น็•ฐๆ€งใฎ้ซ˜ใ„่จบๆ–ญใƒžใƒผใ‚ซใƒผใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใƒ•ใƒฉใƒณใ‚นใชใฉใงใฏใ€Bๅž‹่‚็‚Žใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซไผดใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒ็›ธๅฝ“ๆ•ฐๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏใพใ‚Œใซใ—ใ‹่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚PANใฏMPAใซๆฏ”่ผƒใ—ใฆ่‹ฅๅนฒ่‹ฅใ„ๅนด้ฝขๅฑคใซๅคšใใ€ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ55ๆญณใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ“๏ผš๏ผ‘ใงใ‚„ใ‚„็”ทๆ€งใซๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚" + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆToxic epidermal necrolysis๏ผšTEN๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใŒๅบƒ็ฏ„ๅ›ฒใซๅ‡บ็พใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TENใฏใ€ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJS๏ผ‰ใ‹ใ‚‰้€ฒๅฑ•ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚" @ja
dcterms:identifier1200261NANDO:1200246
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/042-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdf
rdfs:label - "Polyarteritis nodosa" + "Toxic epidermal necrolysis" @en
rdfs:label - "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž" + "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01382http://nanbyodata.jp/ontology/NANDO_2201007
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157689.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/85https://www.nanbyou.or.jp/entry/4037
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:altLabel + "TEN" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019170http://purl.obolibrary.org/obo/MONDO_0019810
skos:prefLabel - "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž" + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" @ja
- - + - - - - - - + + - + - + + "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใˆใ™ใ˜ใ‡ใ„ใˆใ™ใ—ใ‚“ใฆใ‚“ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200262 +
http://nanbyodata.jp/ontology/NANDO_1200247 (rdf:type owl:Class @@ -21806,77 +26196,74 @@

hasNotificationNumber43
- dcterms:description - "1994ๅนดใซChapel Hillใง้–‹ใ‹ใ‚ŒใŸๅ›ฝ้š›ไผš่ญฐใซใŠใ„ใฆใ€ใ“ใ‚Œใพใง็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ไธญๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซ้™ๅฑ€ใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚ŽใฎใฟใŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใจๅฎš็พฉใ•ใ‚Œใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅฐๅ‹•ใƒป้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใฏๅˆฅใฎ็–พๆ‚ฃ็พคใจใ—ใฆๅŒบๅˆฅใ•ใ‚ŒใŸใ€‚ๅพŒ่€…ใฏใ€่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใŒใปใจใ‚“ใฉใฟใ‚‰ใ‚Œใชใ„ใ“ใจใจๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ‚’็‰นๅพดใจใ—ใ€ANCA้–ข้€ฃ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚ใ“ใฎใ†ใกใ€่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใŒ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใ‚„ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ‘ใงใ€ๅฅฝ็™บๅนด้ฝขใฏ55๏ฝž74ๆญณใจ้ซ˜้ฝข่€…ใซๅคšใ„ใ€‚ๅนด้–“็™บ็—‡็Ž‡ใฏใƒ‰ใ‚คใƒ„ใซใŠใ‘ใ‚‹๏ผ“ไบบ/็™พไธ‡ไบบใ‹ใ‚‰่‹ฑๅ›ฝใซใŠใ‘ใ‚‹8.4ไบบ/็™พไธ‡ไบบใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber39
dcterms:identifier1200262NANDO:1200247
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/043-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdf
rdfs:label - "Microscopic polyangiitis" + "Toxic epidermal necrolysis with spots" @en
rdfs:label - "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01658 + rdfs:label + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157696.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/86https://www.nanbyou.or.jp/entry/4037
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200246
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019124 + skos:altLabel + "TEN with macules" + @en
skos:prefLabel - "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใณใพใ‚“ใ›ใ„ใ“ใ†ใฏใ‚“ใ—ใ‚“ใฆใ‚“ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200263 +
http://nanbyodata.jp/ontology/NANDO_1200248 (rdf:type owl:Class @@ -21884,89 +26271,79 @@

hasNotificationNumber44
- dcterms:description - "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏใ€ไปฅๅ‰ใฏใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡ใจ็งฐใ•ใ‚Œใฆใ„ใŸ็–พๆ‚ฃใงใ€็—…็†็ต„็น”ๅญฆ็š„ใซ(๏ผ‘)ๅ…จ่บซใฎๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žใ€(๏ผ’)ไธŠๆฐ—้“ใจ่‚บใ‚’ไธปใจใ™ใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง็‚Žใ€(๏ผ“)ๅŠๆœˆไฝ“ๅฝขๆˆ่…Ž็‚Žใ‚’ๅ‘ˆใ—ใ€ใใฎ็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰)ใŒ้–ขไธŽใ™ใ‚‹่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ…ƒๆฅ็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹ใ€‚ๆ—ฉๆœŸ็ขบๅฎš่จบๆ–ญใซANCAใฎๆธฌๅฎšใฏๆฅตใ‚ใฆๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ANCAใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใฏใ€ๆฌง็ฑณใงใฏใ€ใปใจใ‚“ใฉใŒใƒ—ใƒญใƒ†ใ‚คใƒใƒผใ‚น๏ผ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆPR3-ANCA๏ผ‰ใงใ‚ใ‚‹ใŒใ€ใ‚ใŒๅ›ฝใงใฏใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„ๅŠๆ•ฐใ‚’ๅ ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber39
dcterms:identifier1200263NANDO:1200248
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/044-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdf
rdfs:label - "Granulomatosis with Polyangiitis" + "Toxic epidermal necrolysis without spots" @en
rdfs:label - "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9435
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01655 + rdfs:label + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198052.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4011https://www.nanbyou.or.jp/entry/4037
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200246
skos:altLabel - "Wegeners granulomatosis" + "TEN on large erythema" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012105http://purl.obolibrary.org/obo/MONDO_0019810
skos:prefLabel - "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใจใใ—ใ‚…ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200264 +
http://nanbyodata.jp/ontology/NANDO_1200249 (rdf:type owl:Class @@ -21974,77 +26351,72 @@

hasNotificationNumber45
- dcterms:description - "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆeosinophilic granulomatosis with polyangiitis๏ผšEGPA๏ผ‰ใฏใ€ๅพ“ๆฅใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผˆallergic granulomatous angiitis๏ผšAGA๏ผ‰ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค๏ผˆChurg Strauss syndrome๏ผšCSS๏ผ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ€2012ๅนดใฎๅ›ฝ้š›ไผš่ญฐใงๅ็งฐๅค‰ๆ›ดใŒใชใ•ใ‚ŒใŸใ€‚ๆ—ฅๆœฌ่ชžๅใ‚‚ใ€ใ“ใ‚Œใซๅ‘ผๅฟœใ—ใฆๆคœ่จŽใ•ใ‚Œใ€่กจ่จ˜ใฎใ‚ˆใ†ใซๅฎšใ‚ใ‚‰ใ‚ŒใŸใ€‚ใ€€่‡จๅบŠ็š„็‰นๅพดใฏใ€ๅ…ˆ่กŒ็—‡็Šถใจใ—ใฆๆฐ—็ฎกๆ”ฏ็‚Žๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒใฟใ‚‰ใ‚Œใ€ๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ่ก€็ฎก็‚Žใ‚’็”Ÿใ˜ใ€ๆœซๆขข็ฅž็ตŒ็‚Žใ€็ดซๆ–‘ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜ใ€่„ณๆข—ๅกžใƒป่„ณๅ‡บ่ก€ใƒปๅฟƒ็ญ‹ๆข—ๅกžใƒปๅฟƒๅค–่†œ็‚Žใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚30๏ฝž60ๆญณใฎๅฅณๆ€งใซๅฅฝ็™บใ—ใ€็”ท๏ผšๅฅณ๏ผ๏ผ”๏ผš๏ผ–ใงใ‚„ใ‚„ๅฅณๆ€งใซๅคšใ„ใ€‚ใ€€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๅนด้–“ๆ–ฐ่ฆๆ‚ฃ่€…ๆ•ฐใฏใ€็ด„100ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅนด้–“ใฎๅŒป็™‚ๆ–ฝ่จญๅ—่จบ่€…ใฏใ€็ด„1,800ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ก€ไธญใฎๅฅฝ้…ธ็ƒๅข—ๅŠ ไปฅๅค–ใซใ€ๅฅฝ้…ธ็ƒๆ€ง็ต„็น”้šœๅฎณๅ› ๅญ๏ผˆECPใชใฉ๏ผ‰ใฎไธŠๆ˜‡ใ€IgE้ซ˜ๅ€คใชใฉใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„50๏ผ…ใฎ็—‡ไพ‹ใง่ก€ๆธ…ไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ใ€€็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใฏใ€็œŸ็šฎๅฐ่ก€็ฎกใ‚’ไธญๅฟƒใซๆ ธๅกตใ‚’ไผดใ„ใ€่ก€็ฎกๅ‘จๅ›ฒใฎๅฅฝไธญ็ƒใจ่‘—ๆ˜Žใชๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹็ดฐๅฐ่ก€็ฎกใฎ่‚‰่Šฝ่…ซๆ€งใ‚ใ‚‹ใ„ใฏใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚คใƒ‰ๅค‰ๆ€งใ‚’ไผดใ†ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚„็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Ž๏ผˆleukocytoclastic vasculitis๏ผ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซใ€่ก€็ฎกๅค–ใซ่‚‰่Šฝ่…ซๅฝขๆˆใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ€‚่จบๆ–ญใฏๅพŒ่ฟฐใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€(๏ผ‘)ๅ…ˆ่กŒใ™ใ‚‹ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚ใ‚‹ใ„ใฏใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใ€(๏ผ’)่ก€ไธญใฎๅฅฝ้…ธ็ƒใฎๅข—ๅŠ ใ€(๏ผ“)ๅ‰้ …ใซใ‚ใ‚‹่ก€็ฎก็‚Ž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ใ•ใ‚‰ใซ็—…็†็ต„็น”ๆ‰€่ฆ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ็ขบๅฎŸใซใชใ‚‹ใ€‚ๅ‚่€ƒๆ‰€่ฆ‹ใจใ—ใฆใ€่ก€ๆฒˆไบข้€ฒใ€่ก€ๅฐๆฟๅข—ๅŠ ใ€IgE้ซ˜ๅ€คใ€่ก€ๆธ…MPO-ANCA๏ผˆp-ANCA๏ผ‰้™ฝๆ€งใชใฉใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber39
dcterms:identifier1200264NANDO:1200249
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/045-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdf
rdfs:label - "Eosinophilic Granulomatosis withย Polyangiitis" + "Toxic epidermal necrolysis (particular form)" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01468 + rdfs:label + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157698.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3877https://www.nanbyou.or.jp/entry/4037
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200246
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015943http://purl.obolibrary.org/obo/MONDO_0019810
skos:prefLabel - "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200265 +
http://nanbyodata.jp/ontology/NANDO_1200250 (rdf:type owl:Class @@ -22052,74 +26424,72 @@

hasNotificationNumber46
- dcterms:description - "ๆ—ขๅญ˜ใฎ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ๏ผˆrheumatic arthritis๏ผšRA๏ผ‰ใซใ€่ก€็ฎก็‚Žใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹้–ข็ฏ€ๅค–็—‡็Šถใ‚’่ชใ‚ใ€้›ฃๆฒปๆ€งๅˆใฏ้‡็—‡ใช่‡จๅบŠ็—…ๆ…‹ใ‚’ไผดใ†ๅ ดๅˆใซใ€ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใ„ใ†ใ€‚ๅ†…่‡“้šœๅฎณใŒใชใใ€้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ้–ข็ฏ€็—…ๅค‰ใŒ้€ฒ่กŒใ—ใฆ้–ข็ฏ€ใฎๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใฆ่บซไฝ“้šœๅฎณใŒใ‚‚ใŸใ‚‰ใ•ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใฏใ„ใ‚ใชใ„ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ’ใงใ‚ใ‚‹ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ่ก€็ฎก็‚Žใฏ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽใจๅŒๆง˜ใชๅ…จ่บซๆ€งๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ†…่‡“ใ‚’็ณป็ตฑ็š„ใซไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏ๏ผ‰ใจๅ†…่†œใฎ็ทš็ถญๆ€งๅข—ๆฎ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆœซๆขขๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ››่‚ขๆœซๆขขๅŠใณ็šฎ่†šใ‚’ไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏๅฅฝ๏ผ‰ใฎ๏ผ’ใคใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่ก€็ฎก็‚Žไปฅๅค–ใฎ่‡“ๅ™จ็—‡็Šถใจใ—ใฆใฏใ€้–“่ณชๆ€ง่‚บ็‚Žใ‚’็”Ÿใ˜ใ‚‹ใจ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber39
dcterms:identifier1200265NANDO:1200250
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/046-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/039-201704-kojin.pdf
rdfs:label - "Malignant Rheumatoid Arthritis" + "Toxic epidermal necrolysis (abortive form)" @en
rdfs:label - "ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ" + "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใตใœใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157666.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198048.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/43https://www.nanbyou.or.jp/entry/4037
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200246
- skos:altLabel - "Rheumatoid arthritis with vasculitis" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019810
skos:prefLabel - "ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ" + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200266 +
http://nanbyodata.jp/ontology/NANDO_1200251 (rdf:type owl:Class @@ -22127,89 +26497,108 @@

hasNotificationNumber47hasNotificationNumber40
dcterms:description - "้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Žใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ››่‚ขใฎไธปๅนนๅ‹•่„ˆใซ้–‰ๅกžๆ€งใฎ่ก€็ฎกๅ…จๅฑค็‚Žใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซไธ‹่‚ขๅ‹•่„ˆใซๅฅฝ็™บใ—ใฆใ€่™š่ก€็—‡็Šถใจใ—ใฆ้–“ๆฌ ๆ€ง่ท›่กŒใ‚„ๅฎ‰้™ๆ™‚็–ผ็—›ใ€่™š่ก€ๆ€ง็šฎ่†šๆฝฐ็˜ใ€ๅฃŠ็–ฝ๏ผˆ็‰น็™บๆ€ง่„ฑ็–ฝใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’ๆฅใ™ใ€‚ใพใŸใ€ใ—ใฐใ—ใฐ่กจๅœจ้™่„ˆใซใ‚‚็‚Ž็—‡ใ‚’ๆฅใ—๏ผˆ้Š่ตฐๆ€ง้™่„ˆ็‚Ž๏ผ‰ใ€ใพใ‚Œใซๅคงๅ‹•่„ˆใ‚„ๅ†…่‡“ๅ‹•้™่„ˆใซใ‚‚็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ๅพ“ๅ‰ใ€Œใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…ใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใฏๅคงๅ‹•่„ˆๅŠใณใใฎไธป่ฆๅˆ†ๆžใ‚„่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‚Ž็—‡ๆ€งๅฃ่‚ฅๅŽšใ‚’ใใŸใ—ใ€ใพใŸใใฎ็ตๆžœใจใ—ใฆ็‹ญ็ช„ใ€้–‰ๅกžใพใŸใฏๆ‹กๅผต็—…ๅค‰ใ‚’ๆฅใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐ็š„ๅคงๅž‹่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใพใŸใฏ้–‰ๅกžใ‚’ๆฅใ—ใŸๅ‹•่„ˆใฎๆ”ฏ้…่‡“ๅ™จใซ็‰นๆœ‰ใฎ่™š่ก€้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏ้€†ใซๆ‹กๅผต็—…ๅค‰ใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใŒใใฎ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ็”Ÿใ˜ใŸ่ก€็ฎก้ ˜ๅŸŸใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่บซใฎ่ซธ่‡“ๅ™จใซๅคšๅฝฉใช็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใง้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค๏ผ‰ใจใ•ใ‚Œใฆใ„ใŸใŒๅ›ฝ้š›ๅˆ†้กžใซๆฒฟใฃใฆใ€้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจ็ตฑไธ€ใ—ใŸใ€‚ใพใŸใ€ๆฉˆ้ชจๅ‹•่„ˆ่„ˆๆ‹ใฎๆถˆๅคฑใŒใ‚ˆใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€่„ˆ็„กใ—็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅใฏใ€1908ๅนดใซๆœฌ็–พๆ‚ฃใ‚’็™บ่ฆ‹ใ—ใŸ้‡‘ๆฒขๅคงๅญฆ็œผ็ง‘ใฎ้ซ˜ๅฎ‰ๅณไบบๅšๅฃซใฎๅใซ็”ฑๆฅใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200266NANDO:1200251
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/047-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdf
rdfs:label - "Buerger's Disease" + "Takayasu arteritis" @en
rdfs:label - "ใƒใƒผใ‚ธใƒฃใƒผ็—…" + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9439http://nanbyodata.jp/ontology/NANDO_2200423
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01625http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157866.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/170https://www.nanbyou.or.jp/entry/290
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "Thromboangiitis obliterans" + "Aortitis syndrome" + @en
+ skos:altLabel + "Takayasu's arteritis" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008889http://purl.obolibrary.org/obo/MONDO_0006656
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ใƒใƒผใ‚ธใƒฃใƒผ็—…" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200267 +
http://nanbyodata.jp/ontology/NANDO_1200252 (rdf:type owl:Class @@ -22217,84 +26606,77 @@

hasNotificationNumber48
- dcterms:description - "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใซใฏใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaCL๏ผ‰ใ€ใƒซใƒผใƒ—ใ‚นๆŠ—ๅ‡ๅ›บๅ› ๅญ๏ผˆLAC๏ผ‰ใ€ใƒฏใƒƒใ‚ปใƒซใƒžใƒณๅๅฟœ๏ผˆSTS๏ผ‰ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฎๆŠ—ไฝ“ใ‚’ๆœ‰ใ—ใ€่‡จๅบŠ็š„ใซๅ‹•๏ฝฅ้™่„ˆใฎ่ก€ๆ “็—‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€็ฟ’ๆ…ฃๆต็”ฃ๏ฝฅๆญป็”ฃ๏ฝฅๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใชใฉใ‚’ใฟใ‚‹ๅ ดๅˆใซๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆAPS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๅง‹ใ‚ใจใ™ใ‚‹่† ๅŽŸ็—…ใ‚„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒ๏ผˆ็ถš็™บๆ€ง๏ผ‰ใ€ๅŽŸ็™บๆ€งAPSใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใพใŸใ€ๅคš่‡“ๅ™จๆข—ๅกžใ‚’ๅŒๆ™‚ใซใฟใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๆ…‹ใฏใ€ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆcatastrophicใ€€APS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier1200267NANDO:1200252
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdf
rdfs:label - "Antiphospholipid Antibody Syndrome" + "Type I Takayasu arteritis" @en
rdfs:label - "ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ1ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=114http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4101https://www.nanbyou.or.jp/entry/290
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004
- skos:altLabel - "Antiphospholipid syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_1200251
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007140http://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200268 +
http://nanbyodata.jp/ontology/NANDO_1200253 (rdf:type owl:Class @@ -22302,60 +26684,77 @@

hasNotificationNumber48hasNotificationNumber40
dcterms:identifier1200268NANDO:1200253
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdf
rdfs:label - "Thrombotic Antiphospholipid Syndrome" + "Type II a Takayasu arteritis" @en
rdfs:label - "ๅ‹•้™่„ˆ่ก€ๆ “็—‡" + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ2ใˆใƒผใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIaๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4101https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/290
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200267http://nanbyodata.jp/ontology/NANDO_1200251
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ๅ‹•้™่„ˆ่ก€ๆ “็—‡" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIaๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200269 +
http://nanbyodata.jp/ontology/NANDO_1200254 (rdf:type owl:Class @@ -22363,60 +26762,77 @@

hasNotificationNumber48hasNotificationNumber40
dcterms:identifier1200269NANDO:1200254
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdf
rdfs:label - "Antiphospholipid Syndromeย andย Pregnancy" + "Type II b Takayasu arteritis" @en
rdfs:label - "ๅฆŠๅจ ๅˆไฝต็—‡" + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ2ใณใƒผใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIbๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4101https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/290
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200267http://nanbyodata.jp/ontology/NANDO_1200251
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ๅฆŠๅจ ๅˆไฝต็—‡" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIbๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200270 +
http://nanbyodata.jp/ontology/NANDO_1200255 (rdf:type owl:Class @@ -22424,65 +26840,77 @@

hasNotificationNumber48hasNotificationNumber40
dcterms:identifier1200270NANDO:1200255
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdf
rdfs:label - "Catastrophic antiphospholipid syndrome" + "Type III Takayasu arteritis" @en
rdfs:label - "ๅŠ‡็—‡ๅž‹" + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ3ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIIๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4101https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/290
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200267http://nanbyodata.jp/ontology/NANDO_1200251
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018737http://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ๅŠ‡็—‡ๅž‹" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIIๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200271 +
http://nanbyodata.jp/ontology/NANDO_1200256 (rdf:type owl:Class @@ -22490,46 +26918,77 @@

hasNotificationNumber48hasNotificationNumber40
dcterms:identifier1200271NANDO:1200256
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdf
rdfs:label - "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ" + "Type IV Takayasu arteritis" + @en
+ rdfs:label + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ4ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIVๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4101https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/290
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200267http://nanbyodata.jp/ontology/NANDO_1200251
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991
+ skos:prefLabel + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIVๅž‹๏ผ‰" + @ja
- - + - - - - - - + + - + - + + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ5ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200272 +
http://nanbyodata.jp/ontology/NANDO_1200257 (rdf:type owl:Class @@ -22537,82 +26996,77 @@

hasNotificationNumber49
- dcterms:description - "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใฏDNA๏ผๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber40
dcterms:identifier1200272NANDO:1200257
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/049-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/040-201804-kojin.pdf
rdfs:label - "Systemic lupus erythematosus" + "Type V Takayasu arteritis" @en
rdfs:label - "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=902 + rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆVๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157727.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198050.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/53https://www.nanbyou.or.jp/entry/290
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200251
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007915http://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆVๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200273 +
http://nanbyodata.jp/ontology/NANDO_1200258 (rdf:type owl:Class @@ -22620,72 +27074,96 @@

hasNotificationNumber50hasNotificationNumber41
dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€งใฎ็‚Ž็—‡ๆ€ง็ญ‹็–พๆ‚ฃใงใ€ไธปใซไฝ“ๅนนใ‚„ๅ››่‚ข่ฟ‘ไฝ็ญ‹ใ€้ ธ็ญ‹ใ€ๅ’ฝ้ ญ็ญ‹ใชใฉใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๅ…ธๅž‹็š„ใช็šฎ็–นใ‚’ไผดใ†ใ‚‚ใฎใฏใ€็šฎ่†š็ญ‹็‚Žใจๅ‘ผใถใ€‚็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ญ‹็ต„็น”ใ‚„็šฎ่†š็ต„็น”ใซๅฏพใ™ใ‚‹่‡ชๅทฑๅ…็–ซใงใ‚ใ‚‹ใŒใ€ๅ…จใฆใฎ็ญ‹๏ฝฅ็šฎ่†š็ต„็น”ใŒๅ†’ใ•ใ‚Œใ‚‹ใ‚ใ‘ใงใฏใชใใ€็‰นใซ็šฎ่†š็—‡็Šถใงใฏใ€็‰นๅพด็š„้ƒจไฝใซ็šฎ็–นใŒๅ‡บใ‚„ใ™ใ„ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ไธŠใ€็ญ‹็ต„็น”ๅดฉๅฃŠใ‚’ๅๆ˜ ใ—ใฆใ€็ญ‹ๅŽŸๆ€ง้…ต็ด ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใปใ‹ใ€ไป–ใฎ่† ๅŽŸ็—…ใจๅŒๆง˜ใซ้ซ˜ฮณใ‚ฐใƒญใƒ—ใƒชใƒณ่ก€็—‡ใ‚„่‡ชๅทฑๆŠ—ไฝ“ใ‚’่ชใ‚ใ‚‹ใ€‚2009ๅนดใฎ่‡จๅบŠ่ชฟๆŸปๅ€‹ไบบ็ฅจใฎ่งฃๆž็ตๆžœใซใ‚ˆใ‚Œใฐใ€ๅคš็™บๆ€ง็ญ‹็‚Ž๏ผˆpolymyositis๏ผšPM๏ผ‰ใƒป็šฎ่†š็ญ‹็‚Ž๏ผˆdermatomyositis๏ผšDM๏ผ‰ใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏใปใผๅŒๆ•ฐใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ“ใงใ€็™บ็—‡ใƒ”ใƒผใ‚ฏใฏ๏ผ•๏ฝž๏ผ™ๆญณใจ50ๆญณไปฃใซใ‚ใฃใŸใ€‚" + "ๅคงๅž‹ใƒปไธญๅž‹ใฎๅ‹•่„ˆใซๅทจ็ดฐ่ƒžใ‚’ไผดใ†่‚‰่Šฝ่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ๅ‹•่„ˆ็‚Žใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžใ€็‰นใซๅค–้ šๅ‹•่„ˆใ‚’้ซ˜ใ„้ ปๅบฆใงๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅด้ ญๅ‹•่„ˆใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ไปฅๅ‰ใฏใ€Œๅด้ ญๅ‹•่„ˆ็‚Žใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€็พๅœจใฏใ€Œๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Žใ€ใจใใฎๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚50ๆญณไปฅไธŠใฎ้ซ˜้ฝข่€…ใซ็™บ็—‡ใ—ใ€่‹ฅๅนด่€…ใซ็™บ็—‡ใ™ใ‚‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅฏพ็…ง็š„ใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ’๏ฝž๏ผ“ใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใƒชใ‚ฆใƒžใƒๆ€งๅคš็™บ็ญ‹็—›็—‡ใ‚’ไผดใ„ใ€ๅพŒ่ฟฐใ™ใ‚‹ใ‚ˆใ†ใซไธก่€…ใฏๆฅตใ‚ใฆ่ฟ‘ไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅœฐ็†็š„ใชๅใ‚ŠๅŠใณ้บไผ็ด ๅ› ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ๆฌง็ฑณ็™ฝไบบใซๅคšใใ€ๆ—ฅๆœฌใ‚’ๅซใ‚ใ‚ขใ‚ธใ‚ขไบบใซใฏๅฐ‘ใชใ„ใ€‚" @ja
dcterms:identifier1200273NANDO:1200258
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/041-201704-kojin.pdf
rdfs:label - "Dermatomyositis/Polymyositis" + "Giant cell arteritis" @en
rdfs:label - "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" + "ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01604http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1510
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01698
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000161229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4079https://www.nanbyou.or.jp/entry/3929
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "GCA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008538
skos:prefLabel - "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" + "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200274 +
http://nanbyodata.jp/ontology/NANDO_1200259 (rdf:type owl:Class @@ -22693,65 +27171,91 @@

hasNotificationNumber50hasNotificationNumber41
dcterms:identifier1200274NANDO:1200259
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/041-201704-kojin.pdf
rdfs:label - "Dermatomyositis" + "Cranial giant cell arteritis" @en
rdfs:label - "็šฎ่†š็ญ‹็‚Ž" + "ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆใใใจใ†ใฉใ†ใฟใ‚ƒใใƒปใŒใใฉใ†ใฟใ‚ƒใใƒปใŒใ‚“ใฉใ†ใฟใ‚ƒใใชใฉใฎใšใŒใ„ใ‚Šใ‚‡ใ†ใ„ใใฎใฉใ†ใฟใ‚ƒใใซใ’ใ‚“ใใ‚‡ใ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใฉใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1510
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000161229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4079https://www.nanbyou.or.jp/entry/3929
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200273http://nanbyodata.jp/ontology/NANDO_1200258
+ skos:altLabel + "cranial GCA" + @en
+ skos:altLabel + "ๅด้ ญๅ‹•่„ˆ็‚Ž" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016367http://purl.obolibrary.org/obo/MONDO_0008538
skos:prefLabel - "็šฎ่†š็ญ‹็‚Ž" + "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใฉใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200275 +
http://nanbyodata.jp/ontology/NANDO_1200260 (rdf:type owl:Class @@ -22759,70 +27263,84 @@

hasNotificationNumber50hasNotificationNumber41
dcterms:identifier1200275NANDO:1200260
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/041-201704-kojin.pdf
rdfs:label - "amyopathic dermatomyositis" + "Large-vessel giant cell arteritis" @en
rdfs:label - "็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž" + "ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆใšใŒใ„ใ‚Šใ‚‡ใ†ใ„ใใฎใฉใ†ใฟใ‚ƒใใซใ’ใ‚“ใใ‚‡ใใ›ใšใ ใ„ใฉใ†ใฟใ‚ƒใใƒปใใ†ใ‘ใ„ใฉใ†ใฟใ‚ƒใใƒปใ•ใ“ใคใ‹ใฉใ†ใฟใ‚ƒใใชใฉใซใ‚‚ใถใ‚“ใท๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใšๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใฉใซใ‚‚ๅˆ†ๅธƒ๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1510
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000161229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4079https://www.nanbyou.or.jp/entry/3929
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200273http://nanbyodata.jp/ontology/NANDO_1200258
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016367 + skos:altLabel + "LV-GCA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0043317http://purl.obolibrary.org/obo/MONDO_0008538
skos:prefLabel - "็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž" + "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใšๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใฉใซใ‚‚ๅˆ†ๅธƒ๏ผ‰" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200276 +
http://nanbyodata.jp/ontology/NANDO_1200261 (rdf:type owl:Class @@ -22830,65 +27348,105 @@

hasNotificationNumber50hasNotificationNumber42
+ dcterms:description + "ๅ‹•่„ˆใฏ่ก€็ฎกๅพ„ใซใ‚ˆใ‚Šใ€ๅคงๅž‹ใ€ไธญๅž‹ใ€ๅฐๅž‹ใ€ๆฏ›็ดฐ่ก€็ฎกใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใฏใ€ไธญๅž‹่ก€็ฎกใ‚’ไธปไฝ“ใจใ—ใฆใ€่ก€็ฎกๅฃใซ็‚Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰ใฏไธ€ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใŸ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใฏใ€ๆฏ›็ดฐ่ก€็ฎกใ‚’ไธปไฝ“ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฏใ€็•ฐใชใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใ‚‚่ก€ๆธ…ไธญใซใฏๆคœๅ‡บใ•ใ‚Œใšใ€็พๆ™‚็‚นใงใฏใ€ใ“ใฎ็–พๆ‚ฃใซๅฏพใ™ใ‚‹็‰น็•ฐๆ€งใฎ้ซ˜ใ„่จบๆ–ญใƒžใƒผใ‚ซใƒผใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใƒ•ใƒฉใƒณใ‚นใชใฉใงใฏใ€Bๅž‹่‚็‚Žใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซไผดใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒ็›ธๅฝ“ๆ•ฐๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏใพใ‚Œใซใ—ใ‹่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚PANใฏMPAใซๆฏ”่ผƒใ—ใฆ่‹ฅๅนฒ่‹ฅใ„ๅนด้ฝขๅฑคใซๅคšใใ€ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ55ๆญณใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ“๏ผš๏ผ‘ใงใ‚„ใ‚„็”ทๆ€งใซๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200276NANDO:1200261
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/042-201704-kojin.pdf
rdfs:label - "Polymyositis" + "Polyarteritis nodosa" @en
rdfs:label - "ๅคš็™บๆ€ง็ญ‹็‚Ž" + "ใ‘ใฃใ›ใคใ›ใ„ใŸใฏใคใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira
+ rdfs:label + "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01382
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4079https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157689.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/244
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200273http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "PAN" + @en
+ skos:altLabel + "Periarteritis nodosa" + @en
+ skos:altLabel + "็ต็ฏ€ๆ€งๅ‹•่„ˆๅ‘จๅ›ฒ็‚Ž" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019127http://purl.obolibrary.org/obo/MONDO_0019170
skos:prefLabel - "ๅคš็™บๆ€ง็ญ‹็‚Ž" + "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200277 +
http://nanbyodata.jp/ontology/NANDO_1200262 (rdf:type owl:Class @@ -22896,84 +27454,96 @@

hasNotificationNumber51hasNotificationNumber43
dcterms:description - "ๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSystemic sclerosis๏ผšSSc๏ผ‰ใฏใ€็šฎ่†šใ‚„ๅ†…่‡“ใŒ็กฌใใชใ‚‹ๅค‰ๅŒ–๏ผˆ็กฌๅŒ–ใจใ„ใ†ใ€‚๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆๆง˜ใ€…ใงใ‚ใ‚‹็‚นใซๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ“ใฎ่ฆณ็‚นใ‹ใ‚‰ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ๏ผ’ใคใซๅˆ†ใ‘ใ‚‹ๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใคใพใ‚Šใ€ๅ…ธๅž‹็š„ใช็—‡็Šถใ‚’็คบใ™ใ€Œใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใซๅˆ†ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰่€…ใฏ็™บ็—‡ใ‚ˆใ‚Š๏ผ•๏ฝž๏ผ–ๅนดไปฅๅ†…ใฏ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅพŒ่€…ใฎ่ปฝ็—‡ๅž‹ใงใฏ้€ฒ่กŒใฏใปใจใ‚“ใฉใชใ„ใ‹ใ€ใ‚ใ‚‹ใ„ใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ใชใŠใ€ใ€Œ้™ๅฑ€ๆ€งๅผท็šฎ็—‡ใ€ใฏ็šฎ่†šใฎใฟใซ็กฌๅŒ–ใŒ่ตทใ“ใ‚‹ๅ…จใๅˆฅใฎ็—…ๆฐ—ใงใ‚ใ‚Šใ€ๅ‰่ฟฐใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใฏๅ…จใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" + "1994ๅนดใซChapel Hillใง้–‹ใ‹ใ‚ŒใŸๅ›ฝ้š›ไผš่ญฐใซใŠใ„ใฆใ€ใ“ใ‚Œใพใง็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ไธญๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซ้™ๅฑ€ใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚ŽใฎใฟใŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใจๅฎš็พฉใ•ใ‚Œใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅฐๅ‹•ใƒป้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใฏๅˆฅใฎ็–พๆ‚ฃ็พคใจใ—ใฆๅŒบๅˆฅใ•ใ‚ŒใŸใ€‚ๅพŒ่€…ใฏใ€่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใŒใปใจใ‚“ใฉใฟใ‚‰ใ‚Œใชใ„ใ“ใจใจๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ‚’็‰นๅพดใจใ—ใ€ANCA้–ข้€ฃ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚ใ“ใฎใ†ใกใ€่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใŒ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใ‚„ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ‘ใงใ€ๅฅฝ็™บๅนด้ฝขใฏ55๏ฝž74ๆญณใจ้ซ˜้ฝข่€…ใซๅคšใ„ใ€‚ๅนด้–“็™บ็—‡็Ž‡ใฏใƒ‰ใ‚คใƒ„ใซใŠใ‘ใ‚‹๏ผ“ไบบ/็™พไธ‡ไบบใ‹ใ‚‰่‹ฑๅ›ฝใซใŠใ‘ใ‚‹8.4ไบบ/็™พไธ‡ไบบใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200277NANDO:1200262
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/051-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/043-201704-kojin.pdf
rdfs:label - "Systemic Sclerosis" + "Microscopic polyangiitis" @en
rdfs:label - "ๅ…จ่บซๆ€งๅผท็šฎ็—‡" + "ใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01492http://nanbyodata.jp/ontology/NANDO_2200426
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157796.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01658
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4026https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157696.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/245
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "Systemic scleroderma" + "MPA" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005100http://purl.obolibrary.org/obo/MONDO_0019124
skos:prefLabel - "ๅ…จ่บซๆ€งๅผท็šฎ็—‡" + "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200278 +
http://nanbyodata.jp/ontology/NANDO_1200263 (rdf:type owl:Class @@ -22981,77 +27551,115 @@

hasNotificationNumber52hasNotificationNumber44
dcterms:description - "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…๏ผˆmixed connective tissue disease๏ผšMCTD๏ผ‰ใฏ่† ๅŽŸ็—…้‡่ค‡็—‡ๅ€™็พคใฎไธญใฎไธ€็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€ไปฅไธ‹ใฎไบŒใคใฎ็‰นๅพดใ‚’ๆŒใคๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ๅŠใณๅคš็™บๆ€ง็ญ‹็‚Žใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใŒใ€ๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌไบŒใฏใ€่ก€ๆธ…ไธญใซๆŠ—U1-RNP๏ผˆribonucleoprotein๏ผ‰ๆŠ—ไฝ“ใŒใ€้ซ˜ใ„ๆŠ—ไฝ“ไพกใงๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚" + "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏใ€ไปฅๅ‰ใฏใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡ใจ็งฐใ•ใ‚Œใฆใ„ใŸ็–พๆ‚ฃใงใ€็—…็†็ต„็น”ๅญฆ็š„ใซ(๏ผ‘)ๅ…จ่บซใฎๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žใ€(๏ผ’)ไธŠๆฐ—้“ใจ่‚บใ‚’ไธปใจใ™ใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง็‚Žใ€(๏ผ“)ๅŠๆœˆไฝ“ๅฝขๆˆ่…Ž็‚Žใ‚’ๅ‘ˆใ—ใ€ใใฎ็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰)ใŒ้–ขไธŽใ™ใ‚‹่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ…ƒๆฅ็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹ใ€‚ๆ—ฉๆœŸ็ขบๅฎš่จบๆ–ญใซANCAใฎๆธฌๅฎšใฏๆฅตใ‚ใฆๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ANCAใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใฏใ€ๆฌง็ฑณใงใฏใ€ใปใจใ‚“ใฉใŒใƒ—ใƒญใƒ†ใ‚คใƒใƒผใ‚น๏ผ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆPR3-ANCA๏ผ‰ใงใ‚ใ‚‹ใŒใ€ใ‚ใŒๅ›ฝใงใฏใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„ๅŠๆ•ฐใ‚’ๅ ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200278NANDO:1200263
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/052-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/044-201704-kojin.pdf
rdfs:label - "Mixed connective tissue disease" + "Granulomatosis with polyangiitis" @en
rdfs:label - "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" + "ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01710http://nanbyodata.jp/ontology/NANDO_2200424
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157704.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9435
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01655
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198052.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/105https://www.nanbyou.or.jp/entry/4012
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "GPA" + @en
+ skos:altLabel + "Wegeners granulomatosis" + @en
+ skos:altLabel + "ใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005854http://purl.obolibrary.org/obo/MONDO_0012105
skos:prefLabel - "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" + "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200279 +
http://nanbyodata.jp/ontology/NANDO_1200264 (rdf:type owl:Class @@ -23059,89 +27667,124 @@

hasNotificationNumber53hasNotificationNumber45
dcterms:description - "ๆ…ขๆ€งๅ”พๆถฒ่…บ็‚Žใจไนพ็‡ฅๆ€ง่ง’็ต่†œ็‚Žใ‚’ไธปๅพดใจใ—ใ€ๅคšๅฝฉใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ไนพ็‡ฅ็—‡ใŒไธป็—‡็Šถใจใชใ‚‹ใŒใ€ๅ”พๆถฒ่…บใ€ๆถ™่…บใ ใ‘ใงใชใใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€autoimmune exocrinopathyใจใ‚‚็งฐใ•ใ‚Œใ‚‹ใ€‚ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏไป–ใฎ่† ๅŽŸ็—…ใฎๅˆไฝตใŒใฟใ‚‰ใ‚Œใชใ„ไธ€ๆฌกๆ€งใจ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใ‚„ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใชใฉใฎ่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไบŒๆฌกๆ€งใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€็—…ๅค‰ใŒๆถ™่…บใ€ๅ”พๆถฒ่…บใซ้™ๅฑ€ใ™ใ‚‹่…บๅž‹ใจ็—…ๅค‰ใŒๅ…จ่บซ่ซธ่‡“ๅ™จใซๅŠใถ่…บๅค–ๅž‹ใจใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๆง˜ใ€…ใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„่‡“ๅ™จใซๆตธๆฝคใ—ใŸ่‡ชๅทฑๅๅฟœๆ€งใƒชใƒณใƒ‘็ƒใฎๅญ˜ๅœจใซใ‚ˆใ‚Šใ€่‡ชๅทฑๅ…็–ซๅฟœ็ญ”ใŒใใฎ็—…ๅ› ใจใ—ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒใƒชใ‚ฏใƒญใƒผใƒŠใƒซใช้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใปใ‹ใ€ๆŠ—ๆ ธๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญใ€ๆŠ—SSโ€AๆŠ—ไฝ“ใ€ๆŠ—SSโ€BๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใŒๅ‡บ็พใ™ใ‚‹ใ€‚" + "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆeosinophilic granulomatosis with polyangiitis๏ผšEGPA๏ผ‰ใฏใ€ๅพ“ๆฅใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผˆallergic granulomatous angiitis๏ผšAGA๏ผ‰ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค๏ผˆChurg Strauss syndrome๏ผšCSS๏ผ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ€2012ๅนดใฎๅ›ฝ้š›ไผš่ญฐใงๅ็งฐๅค‰ๆ›ดใŒใชใ•ใ‚ŒใŸใ€‚ๆ—ฅๆœฌ่ชžๅใ‚‚ใ€ใ“ใ‚Œใซๅ‘ผๅฟœใ—ใฆๆคœ่จŽใ•ใ‚Œใ€่กจ่จ˜ใฎใ‚ˆใ†ใซๅฎšใ‚ใ‚‰ใ‚ŒใŸใ€‚ใ€€่‡จๅบŠ็š„็‰นๅพดใฏใ€ๅ…ˆ่กŒ็—‡็Šถใจใ—ใฆๆฐ—็ฎกๆ”ฏ็‚Žๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒใฟใ‚‰ใ‚Œใ€ๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ่ก€็ฎก็‚Žใ‚’็”Ÿใ˜ใ€ๆœซๆขข็ฅž็ตŒ็‚Žใ€็ดซๆ–‘ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜ใ€่„ณๆข—ๅกžใƒป่„ณๅ‡บ่ก€ใƒปๅฟƒ็ญ‹ๆข—ๅกžใƒปๅฟƒๅค–่†œ็‚Žใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚30๏ฝž60ๆญณใฎๅฅณๆ€งใซๅฅฝ็™บใ—ใ€็”ท๏ผšๅฅณ๏ผ๏ผ”๏ผš๏ผ–ใงใ‚„ใ‚„ๅฅณๆ€งใซๅคšใ„ใ€‚ใ€€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๅนด้–“ๆ–ฐ่ฆๆ‚ฃ่€…ๆ•ฐใฏใ€็ด„100ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅนด้–“ใฎๅŒป็™‚ๆ–ฝ่จญๅ—่จบ่€…ใฏใ€็ด„1,800ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ก€ไธญใฎๅฅฝ้…ธ็ƒๅข—ๅŠ ไปฅๅค–ใซใ€ๅฅฝ้…ธ็ƒๆ€ง็ต„็น”้šœๅฎณๅ› ๅญ๏ผˆECPใชใฉ๏ผ‰ใฎไธŠๆ˜‡ใ€IgE้ซ˜ๅ€คใชใฉใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„50๏ผ…ใฎ็—‡ไพ‹ใง่ก€ๆธ…ไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ใ€€็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใฏใ€็œŸ็šฎๅฐ่ก€็ฎกใ‚’ไธญๅฟƒใซๆ ธๅกตใ‚’ไผดใ„ใ€่ก€็ฎกๅ‘จๅ›ฒใฎๅฅฝไธญ็ƒใจ่‘—ๆ˜Žใชๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹็ดฐๅฐ่ก€็ฎกใฎ่‚‰่Šฝ่…ซๆ€งใ‚ใ‚‹ใ„ใฏใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚คใƒ‰ๅค‰ๆ€งใ‚’ไผดใ†ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚„็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Ž๏ผˆleukocytoclastic vasculitis๏ผ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซใ€่ก€็ฎกๅค–ใซ่‚‰่Šฝ่…ซๅฝขๆˆใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ€‚่จบๆ–ญใฏๅพŒ่ฟฐใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€(๏ผ‘)ๅ…ˆ่กŒใ™ใ‚‹ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚ใ‚‹ใ„ใฏใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใ€(๏ผ’)่ก€ไธญใฎๅฅฝ้…ธ็ƒใฎๅข—ๅŠ ใ€(๏ผ“)ๅ‰้ …ใซใ‚ใ‚‹่ก€็ฎก็‚Ž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ใ•ใ‚‰ใซ็—…็†็ต„็น”ๆ‰€่ฆ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ็ขบๅฎŸใซใชใ‚‹ใ€‚ๅ‚่€ƒๆ‰€่ฆ‹ใจใ—ใฆใ€่ก€ๆฒˆไบข้€ฒใ€่ก€ๅฐๆฟๅข—ๅŠ ใ€IgE้ซ˜ๅ€คใ€่ก€ๆธ…MPO-ANCA๏ผˆp-ANCA๏ผ‰้™ฝๆ€งใชใฉใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200279NANDO:1200264
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/053-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/045-201704-kojin.pdf
rdfs:label - "Sjogren's Syndrome" + "Eosinophilic granulomatosis with polyangiitis" @en
rdfs:label - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3012http://nanbyodata.jp/ontology/NANDO_2200427
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01502https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01468
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157710.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157698.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/111https://www.nanbyou.or.jp/entry/3878
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "Sjogren syndrome" + "Allergic granulomatous angiitis" + @en
+ skos:altLabel + "Churg Strauss syndrome" + @en
+ skos:altLabel + "EGPA" @en
+ skos:altLabel + "ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž" + @ja
+ skos:altLabel + "ใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010030http://purl.obolibrary.org/obo/MONDO_0015943
skos:prefLabel - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - - -
http://nanbyodata.jp/ontology/nando#1200280 +
http://nanbyodata.jp/ontology/NANDO_1200265 (rdf:type owl:Class @@ -23149,121 +27792,107 @@

hasNotificationNumber53hasNotificationNumber46
+ dcterms:description + "ๆ—ขๅญ˜ใฎ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ๏ผˆrheumatic arthritis๏ผšRA๏ผ‰ใซใ€่ก€็ฎก็‚Žใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹้–ข็ฏ€ๅค–็—‡็Šถใ‚’่ชใ‚ใ€้›ฃๆฒปๆ€งๅˆใฏ้‡็—‡ใช่‡จๅบŠ็—…ๆ…‹ใ‚’ไผดใ†ๅ ดๅˆใซใ€ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใ„ใ†ใ€‚ๅ†…่‡“้šœๅฎณใŒใชใใ€้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ้–ข็ฏ€็—…ๅค‰ใŒ้€ฒ่กŒใ—ใฆ้–ข็ฏ€ใฎๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใฆ่บซไฝ“้šœๅฎณใŒใ‚‚ใŸใ‚‰ใ•ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใฏใ„ใ‚ใชใ„ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ’ใงใ‚ใ‚‹ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ่ก€็ฎก็‚Žใฏ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽใจๅŒๆง˜ใชๅ…จ่บซๆ€งๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ†…่‡“ใ‚’็ณป็ตฑ็š„ใซไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏ๏ผ‰ใจๅ†…่†œใฎ็ทš็ถญๆ€งๅข—ๆฎ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆœซๆขขๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ››่‚ขๆœซๆขขๅŠใณ็šฎ่†šใ‚’ไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏๅฅฝ๏ผ‰ใฎ๏ผ’ใคใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่ก€็ฎก็‚Žไปฅๅค–ใฎ่‡“ๅ™จ็—‡็Šถใจใ—ใฆใฏใ€้–“่ณชๆ€ง่‚บ็‚Žใ‚’็”Ÿใ˜ใ‚‹ใจ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200280NANDO:1200265
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/053-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/046-201704-kojin.pdf
rdfs:label - "Primary Sjogren syndrome" + "Rheumatoid vasculitis" @en
rdfs:label - "ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "ใ‚ใใ›ใ„ใ‹ใ‚“ใ›ใคใ‚Šใ†ใพใก" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157710.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157666.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/111https://www.nanbyou.or.jp/entry/205
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200279http://nanbyodata.jp/ontology/NANDO_1100004
- skos:prefLabel + skos:altLabel - "ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" - @ja
- - - - - - - - - - - - - - + "Malignant rheumatoid arthritis" + @en - + - + - - - - - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200281 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber53
- dcterms:identifier1200281
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/053-201704-kojin.pdf
- rdfs:label + skos:altLabel - "Secondary Sjogren Syndrome" + "Rheumatoid arthritis with vasculitis" @en
- rdfs:label + skos:altLabel - "ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰่ก€็ฎก็‚Ž" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157710.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/111 + skos:altLabel + "่ก€็ฎก็‚Žใ‚’ไผดใ†้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ" + @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200279 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0043267
skos:prefLabel - "ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200282 +
http://nanbyodata.jp/ontology/NANDO_1200266 (rdf:type owl:Class @@ -23271,84 +27900,117 @@

hasNotificationNumber54hasNotificationNumber47
dcterms:description - "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis๏ผ‰ใฎใ†ใกๅ…จ่บซๅž‹ใฏใ€ๅฐๅ…ใฎ็†ฑๆ€ง็–พๆ‚ฃใจใ—ใฆStill๏ผˆ1897๏ผ‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚ŒใŸใ‚นใƒใƒซ็—…ใจๅŒใ˜ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚นใƒใƒซ็—…ใซใฏๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ€Bywaters๏ผˆ1971๏ผ‰ใฎๅ ฑๅ‘Šไปฅๆฅ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚16ๆญณไปฅไธŠใ‚’ๆˆไบบใจใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใจ็—…ๅƒใฏๅŒๆง˜ใ€ๆฒป็™‚ๆ–น้‡ใ‚‚ๅŒใ˜ใงใ‚ใ‚‹ใ€‚ๅฐๅ…็™บ็—‡ใงๆˆไบบใพใง้ทๅปถใ—ใŸไพ‹ใจๅˆใ‚ใ›ใฆๆˆไบบใ‚นใƒใƒซ็—…ใจๅ‘ผใฐใ‚Œใ€ๆœฌ้‚ฆ้›†่จˆใงๆˆไบบไพ‹ใฎ88๏ผ…ใŒๆˆไบบ็™บ็—‡ๅž‹ใงใ‚ใฃใŸใ€‚ๆˆไบบไพ‹ใฎ็™บ็—‡ๅนด้ฝขใฏใ€ๆœฌ้‚ฆ้›†่จˆใง20ๆญณๅ‰ๅพŒใ‚’ใƒ”ใƒผใ‚ฏใซๅนด้ฝขใจใจใ‚‚ใซ้›†่จˆๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€๏ผ–ๅ‰ฒใฏ16๏ฝž35ๆญณใซๅˆ†ๅธƒใ—ใ€ๅฅณๆ€งใŒ็”ทๆ€งใฎ๏ผ’ๅ€ใงใ‚ใ‚‹ใ€‚้ซ˜ๅนด้ฝขใงใฏๅฅณๆ€งใซๅใ‚Šใ€็จ€ใซ80ๆญณไปฃใฎ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚" + "้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Žใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ››่‚ขใฎไธปๅนนๅ‹•่„ˆใซ้–‰ๅกžๆ€งใฎ่ก€็ฎกๅ…จๅฑค็‚Žใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซไธ‹่‚ขๅ‹•่„ˆใซๅฅฝ็™บใ—ใฆใ€่™š่ก€็—‡็Šถใจใ—ใฆ้–“ๆฌ ๆ€ง่ท›่กŒใ‚„ๅฎ‰้™ๆ™‚็–ผ็—›ใ€่™š่ก€ๆ€ง็šฎ่†šๆฝฐ็˜ใ€ๅฃŠ็–ฝ๏ผˆ็‰น็™บๆ€ง่„ฑ็–ฝใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’ๆฅใ™ใ€‚ใพใŸใ€ใ—ใฐใ—ใฐ่กจๅœจ้™่„ˆใซใ‚‚็‚Ž็—‡ใ‚’ๆฅใ—๏ผˆ้Š่ตฐๆ€ง้™่„ˆ็‚Ž๏ผ‰ใ€ใพใ‚Œใซๅคงๅ‹•่„ˆใ‚„ๅ†…่‡“ๅ‹•้™่„ˆใซใ‚‚็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ๅพ“ๅ‰ใ€Œใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…ใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚" @ja
dcterms:identifier1200282NANDO:1200266
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/054-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/047-201704-kojin.pdf
rdfs:label - "Adult-Still's Disease" + "Buerger's disease" @en
rdfs:label - "ๆˆไบบใ‚นใƒใƒซ็—…" + "ใฐใƒผใ˜ใ‚ƒใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒใƒผใ‚ธใƒฃใƒผ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01516http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9439
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157811.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01625
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/132https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157866.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/315
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "TAO" + @en
skos:altLabel - "Adult still disease" + "Thromboangiitis obliterans" @en
+ skos:altLabel + "ใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…" + @ja
+ skos:altLabel + "้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Ž" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019355http://purl.obolibrary.org/obo/MONDO_0008889
skos:prefLabel - "ๆˆไบบใ‚นใƒใƒซ็—…" + "ใƒใƒผใ‚ธใƒฃใƒผ็—…" @ja
- - + - - + + - + - + + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200283 +
http://nanbyodata.jp/ontology/NANDO_1200267 (rdf:type owl:Class @@ -23356,77 +28018,100 @@

hasNotificationNumber55hasNotificationNumber48
dcterms:description - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆrelapsing polychondritis๏ผšRP๏ผ‰ใฏใ€ๅ…จ่บซใฎ่ปŸ้ชจ็ต„็น”็‰น็•ฐ็š„ใซๆ…ขๆ€งใ‹ใคๅ†็™บๆ€งใฎ็‚Ž็—‡ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใซใฏใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaCL๏ผ‰ใ€ใƒซใƒผใƒ—ใ‚นๆŠ—ๅ‡ๅ›บๅ› ๅญ๏ผˆLAC๏ผ‰ใ€ใƒฏใƒƒใ‚ปใƒซใƒžใƒณๅๅฟœ๏ผˆSTS๏ผ‰ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฎๆŠ—ไฝ“ใ‚’ๆœ‰ใ—ใ€่‡จๅบŠ็š„ใซๅ‹•๏ฝฅ้™่„ˆใฎ่ก€ๆ “็—‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€็ฟ’ๆ…ฃๆต็”ฃ๏ฝฅๆญป็”ฃ๏ฝฅๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใชใฉใ‚’ใฟใ‚‹ๅ ดๅˆใซๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆAPS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๅง‹ใ‚ใจใ™ใ‚‹่† ๅŽŸ็—…ใ‚„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒ๏ผˆ็ถš็™บๆ€ง๏ผ‰ใ€ๅŽŸ็™บๆ€งAPSใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใพใŸใ€ๅคš่‡“ๅ™จๆข—ๅกžใ‚’ๅŒๆ™‚ใซใฟใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๆ…‹ใฏใ€ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆcatastrophicใ€€APS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200283NANDO:1200267
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/055-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdf
rdfs:label - "Relapsing polychondritis" + "Primary antiphospholipid antibody syndrome" @en
rdfs:label - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01758 + rdfs:label + "ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157707.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3856https://www.nanbyou.or.jp/entry/4102
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "Primary APS" + @en
+ skos:altLabel + "Primary antiphospholipid syndrome" + @en
+ skos:altLabel + "ๅŽŸ็™บๆ€งAPS" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019125http://purl.obolibrary.org/obo/MONDO_0005204
skos:prefLabel - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" + "ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + "ใฉใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†ใ‚’ใ‚†ใ†ใ™ใ‚‹ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200284 +
http://nanbyodata.jp/ontology/NANDO_1200268 (rdf:type owl:Class @@ -23434,89 +28119,77 @@

hasNotificationNumber56
- dcterms:description - "ๅฃ่…”็ฒ˜่†œใฎใ‚ขใƒ•ใ‚ฟๆ€งๆฝฐ็˜ใ€็šฎ่†š็—‡็Šถใ€็œผใฎใถใฉใ†่†œ็‚Žใ€ๅค–้™ฐ้ƒจๆฝฐ็˜ใ‚’ไธป็—‡็Šถใจใ—ใ€ๆ€ฅๆ€ง็‚Ž็—‡ๆ€ง็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber48
dcterms:identifier1200284NANDO:1200268
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/056-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdf
rdfs:label - "Behcet's Disease" + "Arterial thrombosis in antiphospholipid syndrome" @en
rdfs:label - "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=165 + rdfs:label + "ๅ‹•่„ˆ่ก€ๆ “็—‡ใ‚’ๆœ‰ใ™ใ‚‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01476http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=114
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157765.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/187https://www.nanbyou.or.jp/entry/4102
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004
- skos:altLabel - "Behcet disease" - @enhttp://nanbyodata.jp/ontology/NANDO_1200267
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007191http://purl.obolibrary.org/obo/MONDO_0007140
skos:prefLabel - "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + "ๅ‹•่„ˆ่ก€ๆ “็—‡ใ‚’ๆœ‰ใ™ใ‚‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200285 +
http://nanbyodata.jp/ontology/NANDO_1200269 (rdf:type owl:Class @@ -23524,72 +28197,67 @@

hasNotificationNumber57
- dcterms:description - "ๅทฆๅฎคๅŽ็ธฎไฝŽไธ‹ใจๅทฆๅฎคๅ†…่…”ใฎๆ‹กๅผตใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ซ˜่ก€ๅœงๆ€งใ€ๅผ่†œๆ€งใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใช็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber48
dcterms:identifier1200285NANDO:1200269
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/057-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdf
rdfs:label - "Idiopathic Dilated Cardiomyopathy" + "antiphospholipid antibody syndrome during pregnancy" @en
rdfs:label - "็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + "ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใŒใฃใบใ„ใซใ‚“ใ—ใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคๅˆไฝตๅฆŠๅจ " @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198053.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3985https://www.nanbyou.or.jp/entry/4102
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016333http://nanbyodata.jp/ontology/NANDO_1200267
skos:prefLabel - "็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคๅˆไฝตๅฆŠๅจ " @ja
- - + - - - - - - + + - + - + + "ใ’ใใ—ใ‚‡ใ†ใŒใŸใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200286 +
http://nanbyodata.jp/ontology/NANDO_1200270 (rdf:type owl:Class @@ -23597,77 +28265,79 @@

hasNotificationNumber58
- dcterms:description - "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใจใฏใ€ๅŽŸ็™บๆ€งใฎๅฟƒๅฎค่‚ฅๅคงใ‚’ใใŸใ™ๅฟƒ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใฏใ€Œๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅคงใ‚’ไผดใ†ๅทฆๅฎคใชใ„ใ—ๅณๅฎคใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่‚ฅๅคงใ€ใจๅฎš็พฉใ•ใ‚Œใ€ๅทฆๅฎคๆ‹กๅผตๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ€Œๅทฆๅฎคๆตๅ‡บ่ทฏ้–‰ๅกžใ‚’ใใŸใ™้–‰ๅกžๆ€งใจใใŸใ•ใชใ„้ž้–‰ๅกžๆ€งใ€ใซๅˆ†้กžใ•ใ‚Œใ€ๅ‰่€…ใงใฏๅŽ็ธฎๆœŸใซๅทฆๅฎคๅ†…ๅœง่ผƒๅทฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎๅฎถๆ—ๆญดใ‚’ๆœ‰ใ™ไพ‹ใŒๅคšใ„ใ€‚" - @jahasNotificationNumber48
dcterms:identifier1200286NANDO:1200270
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdf
rdfs:label - "Hypertrophic cardiomyopathy" + "Catastrophic antiphospholipid syndrome" @en
rdfs:label - "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00292 + rdfs:label + "ๅŠ‡็—‡ๅž‹ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/177https://www.nanbyou.or.jp/entry/4102
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1200267
+ skos:altLabel + "ๅŠ‡็—‡ๅž‹APS" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005045http://purl.obolibrary.org/obo/MONDO_0018737
skos:prefLabel - "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ๅŠ‡็—‡ๅž‹ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200287 +
http://nanbyodata.jp/ontology/NANDO_1200271 (rdf:type owl:Class @@ -23675,67 +28345,77 @@

hasNotificationNumber58hasNotificationNumber48
dcterms:identifier1200287NANDO:1200271
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/048-201704-kojin.pdf
rdfs:label - "hypertrophic nonobstructive cardiomyopathy" + "Antiphospholipid antibody-related disease" @en
rdfs:label - "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=114
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157692.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/177https://www.nanbyou.or.jp/entry/4101
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200286http://nanbyodata.jp/ontology/NANDO_1200267
- skos:altLabel - "HNCM" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007140
skos:prefLabel - "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200288 +
http://nanbyodata.jp/ontology/NANDO_1200272 (rdf:type owl:Class @@ -23743,72 +28423,94 @@

hasNotificationNumber58hasNotificationNumber49
+ dcterms:description + "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใฏDNA๏ผๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200288NANDO:1200272
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/049-201804-kojin.pdf
rdfs:label - "hypertrophic obstructive cardiomyopathy" + "Systemic lupus erythematosus" @en
rdfs:label - "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ใœใ‚“ใ—ใ‚“ใ›ใ„ใˆใ‚Šใฆใพใจใƒผใงใ™" + @ja-Hira
+ rdfs:label + "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docxhttp://nanbyodata.jp/ontology/NANDO_2200416
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=902
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/177https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200286 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157727.docx
- skos:altLabel - "HOCM" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/215
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100004
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005045http://purl.obolibrary.org/obo/MONDO_0007915
skos:prefLabel - "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200289 +
http://nanbyodata.jp/ontology/NANDO_1200273 (rdf:type owl:Class @@ -23816,67 +28518,91 @@

hasNotificationNumber58hasNotificationNumber50
+ dcterms:description + "่‡ชๅทฑๅ…็–ซๆ€งใฎ็‚Ž็—‡ๆ€ง็ญ‹็–พๆ‚ฃใงใ€ไธปใซไฝ“ๅนนใ‚„ๅ››่‚ข่ฟ‘ไฝ็ญ‹ใ€้ ธ็ญ‹ใ€ๅ’ฝ้ ญ็ญ‹ใชใฉใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๅ…ธๅž‹็š„ใช็šฎ็–นใ‚’ไผดใ†ใ‚‚ใฎใฏใ€็šฎ่†š็ญ‹็‚Žใจๅ‘ผใถใ€‚็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ญ‹็ต„็น”ใ‚„็šฎ่†š็ต„็น”ใซๅฏพใ™ใ‚‹่‡ชๅทฑๅ…็–ซใงใ‚ใ‚‹ใŒใ€ๅ…จใฆใฎ็ญ‹๏ฝฅ็šฎ่†š็ต„็น”ใŒๅ†’ใ•ใ‚Œใ‚‹ใ‚ใ‘ใงใฏใชใใ€็‰นใซ็šฎ่†š็—‡็Šถใงใฏใ€็‰นๅพด็š„้ƒจไฝใซ็šฎ็–นใŒๅ‡บใ‚„ใ™ใ„ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ไธŠใ€็ญ‹็ต„็น”ๅดฉๅฃŠใ‚’ๅๆ˜ ใ—ใฆใ€็ญ‹ๅŽŸๆ€ง้…ต็ด ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใปใ‹ใ€ไป–ใฎ่† ๅŽŸ็—…ใจๅŒๆง˜ใซ้ซ˜ฮณใ‚ฐใƒญใƒ—ใƒชใƒณ่ก€็—‡ใ‚„่‡ชๅทฑๆŠ—ไฝ“ใ‚’่ชใ‚ใ‚‹ใ€‚2009ๅนดใฎ่‡จๅบŠ่ชฟๆŸปๅ€‹ไบบ็ฅจใฎ่งฃๆž็ตๆžœใซใ‚ˆใ‚Œใฐใ€ๅคš็™บๆ€ง็ญ‹็‚Ž๏ผˆpolymyositis๏ผšPM๏ผ‰ใƒป็šฎ่†š็ญ‹็‚Ž๏ผˆdermatomyositis๏ผšDM๏ผ‰ใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏใปใผๅŒๆ•ฐใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ“ใงใ€็™บ็—‡ใƒ”ใƒผใ‚ฏใฏ๏ผ•๏ฝž๏ผ™ๆญณใจ50ๆญณไปฃใซใ‚ใฃใŸใ€‚" + @ja
dcterms:identifier1200289NANDO:1200273
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdf
rdfs:label - "mid-ventricular obstruction" + "Dermatomyositis/Polymyositis" @en
rdfs:label - "ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ใฒใตใใ‚“ใˆใ‚“๏ผใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docxhttp://nanbyodata.jp/ontology/NANDO_2200417
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01604
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/177https://www.nanbyou.or.jp/entry/4080
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200286http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "MVO" + "DM/PM" @en
skos:prefLabel - "ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200290 +
http://nanbyodata.jp/ontology/NANDO_1200274 (rdf:type owl:Class @@ -23884,60 +28610,72 @@

hasNotificationNumber58hasNotificationNumber50
dcterms:identifier1200290NANDO:1200274
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdf
rdfs:label - "apical hypertrophic cardiomyopathy" + "Dermatomyositis" @en
rdfs:label - "ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ใฒใตใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็šฎ่†š็ญ‹็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/177https://www.nanbyou.or.jp/entry/4080
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200286http://nanbyodata.jp/ontology/NANDO_1200273
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016367
skos:prefLabel - "ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "็šฎ่†š็ญ‹็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200291 +
http://nanbyodata.jp/ontology/NANDO_1200275 (rdf:type owl:Class @@ -23945,60 +28683,79 @@

hasNotificationNumber58hasNotificationNumber50
dcterms:identifier1200291NANDO:1200275
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdf
rdfs:label - "dilated phase of hypertrophic cardiomyopathy" + "Amyopathic dermatomyositis" @en
rdfs:label - "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ใ‚€ใใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใฒใตใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/177https://www.nanbyou.or.jp/entry/4080
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200286http://nanbyodata.jp/ontology/NANDO_1200273
+ skos:altLabel + "ADM" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0043317
skos:prefLabel - "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200292 +
http://nanbyodata.jp/ontology/NANDO_1200276 (rdf:type owl:Class @@ -24006,72 +28763,72 @@

hasNotificationNumber59
- dcterms:description - "2005ๅนดใซ็™บ่กจใ•ใ‚ŒใŸ็‰น็™บๆ€งๅฟƒ็ญ‹็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹่จบๆ–ญใฎๆ‰‹ๅผ•ใใซใ‚ˆใ‚‹ใจใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎๅŸบๆœฌ็—…ๆ…‹ใฏๅทฆๅฟƒๅฎคๆ‹กๅผต้šœๅฎณใงใ‚ใ‚Šใ€๏ผˆ๏ผ‘๏ผ‰็กฌใ„ๅทฆๅฟƒๅฎค๏ผˆstiff left ventricle๏ผ‰ใฎๅญ˜ๅœจใ€๏ผˆ๏ผ’๏ผ‰ๅทฆๅฎคๆ‹กๅคงใ‚„่‚ฅๅคงใฎๆฌ ๅฆ‚ใ€๏ผˆ๏ผ“๏ผ‰ๆญฃๅธธใพใŸใฏๆญฃๅธธใซ่ฟ‘ใ„ๅทฆๅฎคๅŽ็ธฎๆฉŸ่ƒฝใ€๏ผˆ๏ผ”๏ผ‰ๅŽŸๅ› ๏ผˆๅŸบ็คŽๅฟƒ็–พๆ‚ฃ๏ผ‰ไธๆ˜Žใฎ๏ผ”้ …็›ฎใŒ่จบๆ–ญใฎๅฟ…่ฆๅๅˆ†ๆกไปถใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber50
dcterms:identifier1200292NANDO:1200276
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/059-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/050-201704-kojin.pdf
rdfs:label - "Restrictive cardiomyopathy" + "Polymyositis" @en
rdfs:label - "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€ง็ญ‹็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198059.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157759.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/100https://www.nanbyou.or.jp/entry/4080
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1200273
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005201http://purl.obolibrary.org/obo/MONDO_0019127
skos:prefLabel - "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ๅคš็™บๆ€ง็ญ‹็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200293 +
http://nanbyodata.jp/ontology/NANDO_1200277 (rdf:type owl:Class @@ -24079,60 +28836,96 @@

hasNotificationNumber59hasNotificationNumber51
+ dcterms:description + "ๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSystemic sclerosis๏ผšSSc๏ผ‰ใฏใ€็šฎ่†šใ‚„ๅ†…่‡“ใŒ็กฌใใชใ‚‹ๅค‰ๅŒ–๏ผˆ็กฌๅŒ–ใจใ„ใ†ใ€‚๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆๆง˜ใ€…ใงใ‚ใ‚‹็‚นใซๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ“ใฎ่ฆณ็‚นใ‹ใ‚‰ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ๏ผ’ใคใซๅˆ†ใ‘ใ‚‹ๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใคใพใ‚Šใ€ๅ…ธๅž‹็š„ใช็—‡็Šถใ‚’็คบใ™ใ€Œใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใซๅˆ†ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰่€…ใฏ็™บ็—‡ใ‚ˆใ‚Š๏ผ•๏ฝž๏ผ–ๅนดไปฅๅ†…ใฏ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅพŒ่€…ใฎ่ปฝ็—‡ๅž‹ใงใฏ้€ฒ่กŒใฏใปใจใ‚“ใฉใชใ„ใ‹ใ€ใ‚ใ‚‹ใ„ใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ใชใŠใ€ใ€Œ้™ๅฑ€ๆ€งๅผท็šฎ็—‡ใ€ใฏ็šฎ่†šใฎใฟใซ็กฌๅŒ–ใŒ่ตทใ“ใ‚‹ๅ…จใๅˆฅใฎ็—…ๆฐ—ใงใ‚ใ‚Šใ€ๅ‰่ฟฐใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใฏๅ…จใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200293NANDO:1200277
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/059-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/051-201704-kojin.pdf
rdfs:label - "Idiopathic restrictive cardiomyopathy" + "Systemic sclerosis" @en
rdfs:label - "็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…จ่บซๆ€งๅผท็šฎ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198059.docxhttp://nanbyodata.jp/ontology/NANDO_2200429
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01492
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157796.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/100https://www.nanbyou.or.jp/entry/4027
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200292http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:altLabel + "Systemic scleroderma" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005100
skos:prefLabel - "็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ๅ…จ่บซๆ€งๅผท็šฎ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200294 +
http://nanbyodata.jp/ontology/NANDO_1200278 (rdf:type owl:Class @@ -24140,60 +28933,96 @@

hasNotificationNumber59hasNotificationNumber52
+ dcterms:description + "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…๏ผˆmixed connective tissue disease๏ผšMCTD๏ผ‰ใฏ่† ๅŽŸ็—…้‡่ค‡็—‡ๅ€™็พคใฎไธญใฎไธ€็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€ไปฅไธ‹ใฎไบŒใคใฎ็‰นๅพดใ‚’ๆŒใคๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ๅŠใณๅคš็™บๆ€ง็ญ‹็‚Žใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใŒใ€ๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌไบŒใฏใ€่ก€ๆธ…ไธญใซๆŠ—U1-RNP๏ผˆribonucleoprotein๏ผ‰ๆŠ—ไฝ“ใŒใ€้ซ˜ใ„ๆŠ—ไฝ“ไพกใงๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200294NANDO:1200278
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/059-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/052-201704-kojin.pdf
rdfs:label - "Secondary restrictive cardiomyopathy" + "Mixed connective tissue disease" @en
rdfs:label - "ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ใ“ใ‚“ใ”ใ†ใ›ใ„ใ‘ใคใ”ใ†ใใ—ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198059.docxhttp://nanbyodata.jp/ontology/NANDO_2200430
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01710
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157704.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/100https://www.nanbyou.or.jp/entry/264
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200292http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:altLabel + "MCTD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005854
skos:prefLabel - "ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200295 +
http://nanbyodata.jp/ontology/NANDO_1200279 (rdf:type owl:Class @@ -24201,87 +29030,108 @@

hasNotificationNumber60hasNotificationNumber53
dcterms:description - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใฏใ€ๆœซๆขข่ก€ใงๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใŒไฝŽๅฝขๆˆใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ƒๆธ›ๅฐ‘ใฏๅฟ…ใšใ—ใ‚‚ๅ…จใฆใฎ่ก€็ƒใจใ„ใ†ใ‚ใ‘ใงใฏใชใใ€่ปฝ็—‡ไพ‹ใงใฏ่ฒง่ก€ใจ่ก€ๅฐๆฟๆธ›ๅฐ‘ใ ใ‘ใง็™ฝ่ก€็ƒๆ•ฐใฏๆญฃๅธธใจใ„ใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่จบๆ–ญใฎใŸใ‚ใซใฏใ€ไป–ใฎ็–พๆ‚ฃใซใ‚ˆใ‚‹ๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็‰นใซ่จบๆ–ญใŒ็ด›ใ‚‰ใ‚ใ—ใ„็–พๆ‚ฃใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎไธๅฟœๆ€ง่ฒง่ก€๏ผˆFABๅˆ†้กž๏ผ‰ใงใ‚ใ‚‹ใ€‚" + "ๆ…ขๆ€งๅ”พๆถฒ่…บ็‚Žใจไนพ็‡ฅๆ€ง่ง’็ต่†œ็‚Žใ‚’ไธปๅพดใจใ—ใ€ๅคšๅฝฉใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ไนพ็‡ฅ็—‡ใŒไธป็—‡็Šถใจใชใ‚‹ใŒใ€ๅ”พๆถฒ่…บใ€ๆถ™่…บใ ใ‘ใงใชใใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€autoimmune exocrinopathyใจใ‚‚็งฐใ•ใ‚Œใ‚‹ใ€‚ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏไป–ใฎ่† ๅŽŸ็—…ใฎๅˆไฝตใŒใฟใ‚‰ใ‚Œใชใ„ไธ€ๆฌกๆ€งใจ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใ‚„ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใชใฉใฎ่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไบŒๆฌกๆ€งใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€็—…ๅค‰ใŒๆถ™่…บใ€ๅ”พๆถฒ่…บใซ้™ๅฑ€ใ™ใ‚‹่…บๅž‹ใจ็—…ๅค‰ใŒๅ…จ่บซ่ซธ่‡“ๅ™จใซๅŠใถ่…บๅค–ๅž‹ใจใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๆง˜ใ€…ใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„่‡“ๅ™จใซๆตธๆฝคใ—ใŸ่‡ชๅทฑๅๅฟœๆ€งใƒชใƒณใƒ‘็ƒใฎๅญ˜ๅœจใซใ‚ˆใ‚Šใ€่‡ชๅทฑๅ…็–ซๅฟœ็ญ”ใŒใใฎ็—…ๅ› ใจใ—ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒใƒชใ‚ฏใƒญใƒผใƒŠใƒซใช้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใปใ‹ใ€ๆŠ—ๆ ธๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญใ€ๆŠ—SSโ€AๆŠ—ไฝ“ใ€ๆŠ—SSโ€BๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใŒๅ‡บ็พใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200295NANDO:1200279
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/053-201704-kojin.pdf
rdfs:label - "Aplastic anemia" + "Sjogren's syndrome" @en
rdfs:label - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6476http://nanbyodata.jp/ontology/NANDO_2200420
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01132http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3012
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01502
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157710.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/267
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100004
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012197 + skos:altLabel + "Sjogren syndrome" + @en
+ skos:altLabel + "Sjogren็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015909http://purl.obolibrary.org/obo/MONDO_0010030
skos:prefLabel - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200296 +
http://nanbyodata.jp/ontology/NANDO_1200280 (rdf:type owl:Class @@ -24289,70 +29139,98 @@

hasNotificationNumber60hasNotificationNumber53
dcterms:identifier1200296NANDO:1200280
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/053-201704-kojin.pdf
rdfs:label - "Idiopathic aplastic anemia" + "Primary Sjogren's syndrome" @en
rdfs:label - "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ใ„ใกใ˜ใ›ใ„ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6476http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3012
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157710.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.nanbyou.or.jp/entry/111
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200295http://nanbyodata.jp/ontology/NANDO_1200279
+ skos:altLabel + "Primary Sjogren syndrome" + @en
+ skos:altLabel + "ไธ€ๆฌกๆ€งSjogren็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ๅŽŸ็™บๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012197http://purl.obolibrary.org/obo/MONDO_0010030
skos:prefLabel - "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใซใ˜ใ›ใ„ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200297 +
http://nanbyodata.jp/ontology/NANDO_1200281 (rdf:type owl:Class @@ -24360,70 +29238,74 @@

hasNotificationNumber60hasNotificationNumber53
dcterms:identifier1200297NANDO:1200281
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/053-201704-kojin.pdf
rdfs:label - "Secondary aplastic anemia" + "Secondary Sjogren's syndrome" @en
rdfs:label - "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6476 + rdfs:label + "ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157710.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.nanbyou.or.jp/entry/111
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200295http://nanbyodata.jp/ontology/NANDO_1200279
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012197 + skos:altLabel + "Secondary Sjogren syndrome" + @en
skos:prefLabel - "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200298 +
http://nanbyodata.jp/ontology/NANDO_1200282 (rdf:type owl:Class @@ -24431,46 +29313,112 @@

hasNotificationNumber60hasNotificationNumber54
+ dcterms:description + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis๏ผ‰ใฎใ†ใกๅ…จ่บซๅž‹ใฏใ€ๅฐๅ…ใฎ็†ฑๆ€ง็–พๆ‚ฃใจใ—ใฆStill๏ผˆ1897๏ผ‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚ŒใŸใ‚นใƒใƒซ็—…ใจๅŒใ˜ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚นใƒใƒซ็—…ใซใฏๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ€Bywaters๏ผˆ1971๏ผ‰ใฎๅ ฑๅ‘Šไปฅๆฅ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚16ๆญณไปฅไธŠใ‚’ๆˆไบบใจใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใจ็—…ๅƒใฏๅŒๆง˜ใ€ๆฒป็™‚ๆ–น้‡ใ‚‚ๅŒใ˜ใงใ‚ใ‚‹ใ€‚ๅฐๅ…็™บ็—‡ใงๆˆไบบใพใง้ทๅปถใ—ใŸไพ‹ใจๅˆใ‚ใ›ใฆๆˆไบบใ‚นใƒใƒซ็—…ใจๅ‘ผใฐใ‚Œใ€ๆœฌ้‚ฆ้›†่จˆใงๆˆไบบไพ‹ใฎ88๏ผ…ใŒๆˆไบบ็™บ็—‡ๅž‹ใงใ‚ใฃใŸใ€‚ๆˆไบบไพ‹ใฎ็™บ็—‡ๅนด้ฝขใฏใ€ๆœฌ้‚ฆ้›†่จˆใง20ๆญณๅ‰ๅพŒใ‚’ใƒ”ใƒผใ‚ฏใซๅนด้ฝขใจใจใ‚‚ใซ้›†่จˆๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€๏ผ–ๅ‰ฒใฏ16๏ฝž35ๆญณใซๅˆ†ๅธƒใ—ใ€ๅฅณๆ€งใŒ็”ทๆ€งใฎ๏ผ’ๅ€ใงใ‚ใ‚‹ใ€‚้ซ˜ๅนด้ฝขใงใฏๅฅณๆ€งใซๅใ‚Šใ€็จ€ใซ80ๆญณไปฃใฎ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200298NANDO:1200282
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/054-201704-kojin.pdf
rdfs:label - "็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "Adult Still's disease" + @en
+ rdfs:label + "ใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบใ‚นใƒใƒซ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01516
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157811.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/282
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200295http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "AOSD" + @en
+ skos:altLabel + "Adult Still disease" + @en
+ skos:altLabel + "Adult-onset Still disease" + @en
+ skos:altLabel + "ๆˆไบบStill็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019355
+ skos:prefLabel + "ๆˆไบบใ‚นใƒใƒซ็—…" + @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + "RP" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200299 +
http://nanbyodata.jp/ontology/NANDO_1200283 (rdf:type owl:Class @@ -24478,67 +29426,96 @@

hasNotificationNumber60hasNotificationNumber55
+ dcterms:description + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆrelapsing polychondritis๏ผšRP๏ผ‰ใฏใ€ๅ…จ่บซใฎ่ปŸ้ชจ็ต„็น”็‰น็•ฐ็š„ใซๆ…ขๆ€งใ‹ใคๅ†็™บๆ€งใฎ็‚Ž็—‡ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200299NANDO:1200283
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/055-201704-kojin.pdf
rdfs:label - "Hepatitis-Associated Aplastic Anemia" + "Relapsing polychondritis" @en
rdfs:label - "่‚็‚ŽๅพŒ" + "ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttp://nanbyodata.jp/ontology/NANDO_2200428
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01758
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157707.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3857
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200298http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019125
skos:prefLabel - "่‚็‚ŽๅพŒ" + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200300 +
http://nanbyodata.jp/ontology/NANDO_1200284 (rdf:type owl:Class @@ -24546,60 +29523,101 @@

hasNotificationNumber60hasNotificationNumber56
+ dcterms:description + "ๅฃ่…”็ฒ˜่†œใฎใ‚ขใƒ•ใ‚ฟๆ€งๆฝฐ็˜ใ€็šฎ่†š็—‡็Šถใ€็œผใฎใถใฉใ†่†œ็‚Žใ€ๅค–้™ฐ้ƒจๆฝฐ็˜ใ‚’ไธป็—‡็Šถใจใ—ใ€ๆ€ฅๆ€ง็‚Ž็—‡ๆ€ง็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200300NANDO:1200284
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/056-201704-kojin.pdf
rdfs:label - "aplastic anaemia--paroxysmal nocturnal haemoglobinuria syndrome" + "Behcet's disease" @en
rdfs:label - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค" + "ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttp://nanbyodata.jp/ontology/NANDO_2200422
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=165
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01476
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157765.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/330
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200298http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "Behcet disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007191
skos:prefLabel - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค" + "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" @ja
- - + - - - - - - + + + + + + + + + + - + + + + + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200301 +
http://nanbyodata.jp/ontology/NANDO_1200285 (rdf:type owl:Class @@ -24607,46 +29625,74 @@

hasNotificationNumber60
- dcterms:identifier1200301hasNotificationNumber57
+ dcterms:description + "ๅทฆๅฎคๅŽ็ธฎไฝŽไธ‹ใจๅทฆๅฎคๅ†…่…”ใฎๆ‹กๅผตใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ซ˜่ก€ๅœงๆ€งใ€ๅผ่†œๆ€งใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใช็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200285
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/057-201704-kojin.pdf
rdfs:label - "MDSใจใฎๅขƒ็•Œๅž‹" + "Idiopathic dilated cardiomyopathy" + @en
+ rdfs:label + "ใจใใฏใคใ›ใ„ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198053.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.nanbyou.or.jp/entry/3986
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200298http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:prefLabel + "็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200302 +
http://nanbyodata.jp/ontology/NANDO_1200286 (rdf:type owl:Class @@ -24654,65 +29700,96 @@

hasNotificationNumber60hasNotificationNumber58
+ dcterms:description + "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใจใฏใ€ๅŽŸ็™บๆ€งใฎๅฟƒๅฎค่‚ฅๅคงใ‚’ใใŸใ™ๅฟƒ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใฏใ€Œๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅคงใ‚’ไผดใ†ๅทฆๅฎคใชใ„ใ—ๅณๅฎคใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่‚ฅๅคงใ€ใจๅฎš็พฉใ•ใ‚Œใ€ๅทฆๅฎคๆ‹กๅผตๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ€Œๅทฆๅฎคๆตๅ‡บ่ทฏ้–‰ๅกžใ‚’ใใŸใ™้–‰ๅกžๆ€งใจใใŸใ•ใชใ„้ž้–‰ๅกžๆ€งใ€ใซๅˆ†้กžใ•ใ‚Œใ€ๅ‰่€…ใงใฏๅŽ็ธฎๆœŸใซๅทฆๅฎคๅ†…ๅœง่ผƒๅทฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎๅฎถๆ—ๆญดใ‚’ๆœ‰ใ™ไพ‹ใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200302NANDO:1200286
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdf
rdfs:label - "Congenital aplastic anemia" + "Hypertrophic cardiomyopathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttp://nanbyodata.jp/ontology/NANDO_2200229
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00292
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/320
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200295http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "HCM" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001713http://purl.obolibrary.org/obo/MONDO_0005045
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + "ใฒใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200303 +
http://nanbyodata.jp/ontology/NANDO_1200287 (rdf:type owl:Class @@ -24720,80 +29797,98 @@

hasNotificationNumber60hasNotificationNumber58
dcterms:identifier1200303NANDO:1200287
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdf
rdfs:label - "fanconi anemia" + "Hypertrophic non-obstructive cardiomyopathy" @en
rdfs:label - "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2202 + rdfs:label + "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00238http://nanbyodata.jp/ontology/NANDO_2201041
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.nanbyou.or.jp/entry/320
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200302http://nanbyodata.jp/ontology/NANDO_1200286
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009215 + skos:altLabel + "HNCM" + @en
+ skos:altLabel + "NHCM" + @en
+ skos:altLabel + "Non-obstructive hypertrophic cardiomyopathy" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019391http://purl.obolibrary.org/obo/MONDO_0005045
skos:prefLabel - "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" + "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200304 +
http://nanbyodata.jp/ontology/NANDO_1200288 (rdf:type owl:Class @@ -24801,70 +29896,84 @@

hasNotificationNumber60hasNotificationNumber58
dcterms:identifier1200304NANDO:1200288
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdf
rdfs:label - "dyskeratosis congenita" + "Hypertrophic obstructive cardiomyopathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" + "ใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00507http://nanbyodata.jp/ontology/NANDO_2201042
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106https://www.nanbyou.or.jp/entry/320
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200302http://nanbyodata.jp/ontology/NANDO_1200286
+ skos:altLabel + "HOCM" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015780http://purl.obolibrary.org/obo/MONDO_0005045
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" + "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - - - - - + + - + - + - - - - + "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใถใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200305 +
http://nanbyodata.jp/ontology/NANDO_1200289 (rdf:type owl:Class @@ -24872,82 +29981,74 @@

hasNotificationNumber61
- dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆAIHA๏ผ‰ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒใฎๅฏฟๅ‘ฝใŒ่‘—ใ—ใ็Ÿญ็ธฎ๏ผˆๆบถ่ก€๏ผ‰ ใ—ใ€่ฒง่ก€ใ‚’ๆฅใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใซใคใชใŒใ‚‹็—…ๅ› ใฎ่ฉณ็ดฐใฏใ„ใพใ ไธๆ˜Žใฎ้ƒจๅˆ†ใŒๅคšใใ€่‡จๅบŠ็ตŒ้ŽใƒปไบˆๅพŒใฎ้ขใงใ‚‚ๅคšๆง˜ๆ€งใซๅฏŒใ‚€ไธๅ‡่ณชใช็—…ๆ…‹็พคใจ็†่งฃใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚’ๅ…ฑ้€š็‚นใจใ™ใ‚‹ใŒใ€ๆŠ—ไฝ“ใฎๆ€ง็Šถใ€่‡จๅบŠ็š„่กจ็พๅž‹ใ€ๅฅฝ็™บๅนด้ฝขใชใฉๆง˜ใ€…ใช่ฆณ็‚นใ‹ใ‚‰ใฟใฆ็•ฐใชใ‚‹็‰นๅพดใ‚’ใ‚‚ใค็—…ๆ…‹ใ‚’ๅŒ…ๅซใ™ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎ่ตค่ก€็ƒ็ตๅˆใฎๆœ€้ฉๆธฉๅบฆใซใ‚ˆใ‚Šๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber58
dcterms:identifier1200305NANDO:1200289
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdf
rdfs:label - "Autoimmune hemolytic anemia" + "Mid-ventricular obstructive hypertrophic cardiomyopathy" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9446
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01585 + rdfs:label + "ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/114https://www.nanbyou.or.jp/entry/320
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1200286
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020108 + skos:altLabel + "MVOHCM" + @en
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200306 +
http://nanbyodata.jp/ontology/NANDO_1200290 (rdf:type owl:Class @@ -24955,60 +30056,74 @@

hasNotificationNumber61hasNotificationNumber58
dcterms:identifier1200306NANDO:1200290
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdf
rdfs:label - "Warm autoimmune hemolytic anemia" + "Apical hypertrophic cardiomyopathy" @en
rdfs:label - "ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ใ—ใ‚“ใ›ใ‚“ใถใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/114https://www.nanbyou.or.jp/entry/320
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200305http://nanbyodata.jp/ontology/NANDO_1200286
+ skos:altLabel + "APH" + @en
skos:prefLabel - "ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200307 +
http://nanbyodata.jp/ontology/NANDO_1200291 (rdf:type owl:Class @@ -25016,65 +30131,79 @@

hasNotificationNumber61hasNotificationNumber58
dcterms:identifier1200307NANDO:1200291
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/058-201704-kojin.pdf
rdfs:label - "cold agglutinin disease" + "Dilated phase of hypertrophic cardiomyopathy" @en
rdfs:label - "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" + "ใ‹ใใกใ‚‡ใ†ใใ†ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docxhttp://nanbyodata.jp/ontology/NANDO_2201043
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/114https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198057.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/320
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200305http://nanbyodata.jp/ontology/NANDO_1200286
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018922 + skos:altLabel + "D-HCM" + @en
skos:prefLabel - "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" + "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200308 +
http://nanbyodata.jp/ontology/NANDO_1200292 (rdf:type owl:Class @@ -25082,60 +30211,89 @@

hasNotificationNumber61hasNotificationNumber59
+ dcterms:description + "2005ๅนดใซ็™บ่กจใ•ใ‚ŒใŸ็‰น็™บๆ€งๅฟƒ็ญ‹็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹่จบๆ–ญใฎๆ‰‹ๅผ•ใใซใ‚ˆใ‚‹ใจใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎๅŸบๆœฌ็—…ๆ…‹ใฏๅทฆๅฟƒๅฎคๆ‹กๅผต้šœๅฎณใงใ‚ใ‚Šใ€๏ผˆ๏ผ‘๏ผ‰็กฌใ„ๅทฆๅฟƒๅฎค๏ผˆstiff left ventricle๏ผ‰ใฎๅญ˜ๅœจใ€๏ผˆ๏ผ’๏ผ‰ๅทฆๅฎคๆ‹กๅคงใ‚„่‚ฅๅคงใฎๆฌ ๅฆ‚ใ€๏ผˆ๏ผ“๏ผ‰ๆญฃๅธธใพใŸใฏๆญฃๅธธใซ่ฟ‘ใ„ๅทฆๅฎคๅŽ็ธฎๆฉŸ่ƒฝใ€๏ผˆ๏ผ”๏ผ‰ๅŽŸๅ› ๏ผˆๅŸบ็คŽๅฟƒ็–พๆ‚ฃ๏ผ‰ไธๆ˜Žใฎ๏ผ”้ …็›ฎใŒ่จบๆ–ญใฎๅฟ…่ฆๅๅˆ†ๆกไปถใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200308NANDO:1200292
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/059-201804-kojin.pdf
rdfs:label - "paroxysmal cold haemoglobinuria" + "Restrictive cardiomyopathy" @en
rdfs:label - "ๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docxhttp://nanbyodata.jp/ontology/NANDO_2200233
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/114https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01219
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198059.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/259
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200305http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005201
skos:prefLabel - "ๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200309 +
http://nanbyodata.jp/ontology/NANDO_1200293 (rdf:type owl:Class @@ -25143,65 +30301,72 @@

hasNotificationNumber61hasNotificationNumber59
dcterms:identifier1200309NANDO:1200293
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/059-201804-kojin.pdf
rdfs:label - "Mixed-type autoimmune hemolytic anemia" + "Idiopathic restrictive cardiomyopathy" @en
rdfs:label - "ๆททๅˆๅž‹" + "ใจใใฏใคใ›ใ„ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198059.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/114https://www.nanbyou.or.jp/entry/259
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200305http://nanbyodata.jp/ontology/NANDO_1200292
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019534http://purl.obolibrary.org/obo/MONDO_0005201
skos:prefLabel - "ๆททๅˆๅž‹" + "็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200310 +
http://nanbyodata.jp/ontology/NANDO_1200294 (rdf:type owl:Class @@ -25209,65 +30374,72 @@

hasNotificationNumber61hasNotificationNumber59
dcterms:identifier1200310NANDO:1200294
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/059-201804-kojin.pdf
rdfs:label - "Evans syndrome" + "Secondary restrictive cardiomyopathy" @en
rdfs:label - "ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค" + "ใซใ˜ใ›ใ„ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198059.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/114https://www.nanbyou.or.jp/entry/259
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200305http://nanbyodata.jp/ontology/NANDO_1200292
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016030http://purl.obolibrary.org/obo/MONDO_0016345
skos:prefLabel - "ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค" + "ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200311 +
http://nanbyodata.jp/ontology/NANDO_1200295 (rdf:type owl:Class @@ -25275,77 +30447,96 @@

hasNotificationNumber62hasNotificationNumber60
dcterms:description - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆParoximal Nocturnal Hemogrobinuria๏ผšPNH๏ผ‰ใฏใ€PIGA้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚’ไปฃ่กจใจใ™ใ‚‹้€ ่ก€ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏใพใ‚Œใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚PNHใฏใ€ๆ˜ญๅ’Œ49๏ผˆ1974๏ผ‰ๅนดใซๆบถ่ก€ๆ€ง่ฒง่ก€ใŒ็‰นๅฎš็–พๆ‚ฃใซๆŒ‡ๅฎšใ•ใ‚ŒใŸใ“ใจใซไผดใ„ใ€็ ”็ฉถๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅ–ใ‚ŠไธŠใ’ใ‚‰ใ‚Œใ€ใ€Œๆบถ่ก€ๆ€ง่ฒง่ก€่ชฟๆŸป็ ”็ฉถ็ญใ€๏ผˆ็ญ้•ทใ€€ไธ‰่ผชๅฒๆœ—๏ผ‰ใซใ‚ˆใฃใฆ็ต„็น”็š„ใช็ ”็ฉถใŒ้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‹ใ‚‰ไปŠๆ—ฅใซ่‡ณใ‚‹40ๅนดใซใ‚ใŸใฃใฆๆญดไปฃ็ญ้•ทใซใ‚ˆใ‚Š็–ซๅญฆใ€็—…ๅ› ใ€็—…ๆ…‹ใ€่จบๆ–ญใ€ๆฒป็™‚ใ€ไบˆๅพŒใชใฉๅน…ๅบƒใ„้ ˜ๅŸŸใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใŒ้‡ใญใ‚‰ใ‚ŒใฆใใŸใ€‚่จบๆ–ญๆ™‚๏ผˆๅˆ่จบๆ™‚๏ผ‰ๅนด้ฝขใฏใ€็‰น็™บๆ€ง้€ ่ก€้šœๅฎณใซ้–ขใ™ใ‚‹็ ”็ฉถ็ญใฎๅ…ฑๅŒ็ ”็ฉถใ€ŒPNHๆ‚ฃ่€…ใซใŠใ‘ใ‚‹่‡จๅบŠ็—…ๆญดใจ่‡ช็„ถๆญดใฎๆ—ฅ็ฑณๆฏ”่ผƒ่ชฟๆŸปใ€ใฎใƒ‡ใƒผใ‚ฟใซใ‚ˆใ‚‹ใจใ€45.1ๆญณ๏ผˆrange๏ผš10๏ฝž86๏ผ‰ใงใ‚ใฃใŸใ€‚่จบๆ–ญๆ™‚ๅนด้ฝขๅˆ†ๅธƒใฏใ€20๏ฝž60ๆญณไปฃใซๅคšใใพใ‚“ในใ‚“ใชใ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฌง็ฑณไพ‹ใงใฏใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟใ€่ก€ๆ “็—‡ใจใ„ใฃใŸPNHใฎๅคๅ…ธ็š„็—‡็ŠถใŒๅ‰้ขใซๅ‡บใ‚„ใ™ใ„ใฎใซๅฏพใ—ใ€ใ‚ขใ‚ธใ‚ขไพ‹ใงใฏใ‚€ใ—ใ‚้€ ่ก€ไธๅ…จ็—‡็ŠถใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚" + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใฏใ€ๆœซๆขข่ก€ใงๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใŒไฝŽๅฝขๆˆใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ƒๆธ›ๅฐ‘ใฏๅฟ…ใšใ—ใ‚‚ๅ…จใฆใฎ่ก€็ƒใจใ„ใ†ใ‚ใ‘ใงใฏใชใใ€่ปฝ็—‡ไพ‹ใงใฏ่ฒง่ก€ใจ่ก€ๅฐๆฟๆธ›ๅฐ‘ใ ใ‘ใง็™ฝ่ก€็ƒๆ•ฐใฏๆญฃๅธธใจใ„ใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่จบๆ–ญใฎใŸใ‚ใซใฏใ€ไป–ใฎ็–พๆ‚ฃใซใ‚ˆใ‚‹ๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็‰นใซ่จบๆ–ญใŒ็ด›ใ‚‰ใ‚ใ—ใ„็–พๆ‚ฃใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎไธๅฟœๆ€ง่ฒง่ก€๏ผˆFABๅˆ†้กž๏ผ‰ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200311NANDO:1200295
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Paroxysmal nocturnal hemoglobinuria" + "Aplastic anemia" @en
rdfs:label - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01053http://nanbyodata.jp/ontology/NANDO_2200693
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01132
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3783https://www.nanbyou.or.jp/entry/265
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "Aplastic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018641http://purl.obolibrary.org/obo/MONDO_0015909
skos:prefLabel - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200312 +
http://nanbyodata.jp/ontology/NANDO_1200296 (rdf:type owl:Class @@ -25353,60 +30544,89 @@

hasNotificationNumber62hasNotificationNumber60
dcterms:identifier1200312NANDO:1200296
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Classicalย Paroxysmal Nocturnal Hemoglobinuria" + "Idiopathic aplastic anemia" @en
rdfs:label - "ๅคๅ…ธ็š„PNH" + "ใจใใฏใคใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docxhttp://nanbyodata.jp/ontology/NANDO_2201276
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6476
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3783https://www.nanbyou.or.jp/entry/106
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200311http://nanbyodata.jp/ontology/NANDO_1200295
+ skos:altLabel + "Idiopathic aplastic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012197
skos:prefLabel - "ๅคๅ…ธ็š„PNH" + "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200313 +
http://nanbyodata.jp/ontology/NANDO_1200297 (rdf:type owl:Class @@ -25414,60 +30634,79 @@

hasNotificationNumber62hasNotificationNumber60
dcterms:identifier1200313NANDO:1200297
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "PNH in the setting of another specified bone marrow disorder" + "Secondary aplastic anemia" @en
rdfs:label - "้ชจ้ซ„ไธๅ…จๅž‹PNH" + "ใซใ˜ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docxhttp://nanbyodata.jp/ontology/NANDO_2201277
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3783https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200311http://nanbyodata.jp/ontology/NANDO_1200295
+ skos:altLabel + "Secondary aplastic anaemia" + @en
skos:prefLabel - "้ชจ้ซ„ไธๅ…จๅž‹PNH" + "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200314 +
http://nanbyodata.jp/ontology/NANDO_1200298 (rdf:type owl:Class @@ -25475,65 +30714,74 @@

hasNotificationNumber62hasNotificationNumber60
dcterms:identifier1200314NANDO:1200298
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Paroxysmal nocturnal hemoglobinuria" + "Atypical aplastic anemia" @en
rdfs:label - "ๆททๅˆๅž‹PNH" + "ใจใใ—ใ‚…ใŒใŸใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3783https://www.nanbyou.or.jp/entry/106
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200311http://nanbyodata.jp/ontology/NANDO_1200295
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018641 + skos:altLabel + "Atypical aplastic anaemia" + @en
skos:prefLabel - "ๆททๅˆๅž‹PNH" + "็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + "ใ‹ใ‚“ใˆใ‚“ใ”ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira - - + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200315 +
http://nanbyodata.jp/ontology/NANDO_1200299 (rdf:type owl:Class @@ -25541,77 +30789,74 @@

hasNotificationNumber63
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็™บ็พใ—ใ€่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆฌง็ฑณใซใŠใ„ใฆๆœฌ็—‡ใฏใ€ไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆprimary immune thrombocytopenia๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฎๅทจๆ ธ็ƒ็”ฃ็”Ÿ่ƒฝใฎไฝŽไธ‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใชใ„ใ€‚ITPใฎ่จบๆ–ญใฏไปŠใงใ‚‚้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŸบ็คŽ็–พๆ‚ฃใ‚„ใ€่–ฌๅ‰คใฎ้–ขไธŽใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ยตLๆœชๆบ€ใ‚’ใ•ใ™ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ๅฐๆฟ่‡ชๅทฑๆŠ—ไฝ“ใŒ้ชจ้ซ„ๅทจๆ ธ็ƒใซใ‚‚็ตๅˆใ—ใ€่ก€ๅฐๆฟใฎ็”ฃ็”Ÿ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber60
dcterms:identifier1200315NANDO:1200299
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/063-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Idiopathic thrombocytopenic purpura" + "Hepatitis-associated aplastic anemia" @en
rdfs:label - "็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1528 + rdfs:label + "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157747.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/157https://www.nanbyou.or.jp/entry/106
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1200298
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008558 + skos:altLabel + "Hepatitis-associated aplastic anaemia" + @en
skos:prefLabel - "็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใคใดใƒผใˆใฌใˆใ„ใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200316 +
http://nanbyodata.jp/ontology/NANDO_1200300 (rdf:type owl:Class @@ -25619,77 +30864,86 @@

hasNotificationNumber64
- dcterms:description - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผšTTP๏ผ‰ใฏใ€1924ๅนด็ฑณๅ›ฝใฎEli Moschcowitzใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆญดๅฒ็š„ใซใฏ๏ผ‘๏ผ‰ๆถˆ่€—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€๏ผ“๏ผ‰่…ŽๆฉŸ่ƒฝ้šœๅฎณใ€๏ผ”๏ผ‰็™บ็†ฑใ€๏ผ•๏ผ‰ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ้šœๅฎณใฎๅคๅ…ธ็š„๏ผ•ๅพดๅ€™ใง่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€๏ผ‘๏ผ‰๏ผ’๏ผ‰ใฎใฟใฎ็—‡ไพ‹ใงใ‚‚ๅŒๆง˜ใฎ็—…ๆ…‹ใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸใŒใ€ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏADAMTS13ๆดปๆ€ง่‘—ๆธ›๏ผˆ10๏ผ…ๆœชๆบ€๏ผ‰ใฎใฟใŒTTPใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚TTPใฎ็ฝนๆ‚ฃๅนดไปคใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰่€ไบบใพใงใจๅน…ๅบƒใใ€ๆ—ฅๆœฌๅ›ฝๅ†…ใงใฏ30๏ฝž50ๆญณใจ60ๆญณๅ‰ๅพŒใซ็™บ็—‡ใƒ”ใƒผใ‚ฏใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฝนๆ‚ฃ็Ž‡ใฏๅฅณๆ€งใซใ‚„ใ‚„ๅคšใ„ใŒใ€30๏ฝž50ๆญณใงใฏๅฅณๆ€งใŒๆ˜Žใ‚‰ใ‹ใซๅคšใใ€้ซ˜้ฝขใซใชใ‚Œใฐ็”ทๆ€งใฎๆฏ”็Ž‡ใŒ้ซ˜ใพใ‚‹ใ€‚" - @jahasNotificationNumber60
dcterms:identifier1200316NANDO:1200300
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Thrombotic thrombocytopenic purpura" + "Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome" @en
rdfs:label - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00225 + rdfs:label + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/87https://www.nanbyou.or.jp/entry/106
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1200298
+ skos:altLabel + "Aplastic anaemia-PNH syndrome" + @en
+ skos:altLabel + "Aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018896http://purl.obolibrary.org/obo/MONDO_0018641
skos:prefLabel - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค" @ja
- - + - - + + - + - + - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200317 +
http://nanbyodata.jp/ontology/NANDO_1200301 (rdf:type owl:Class @@ -25697,70 +30951,79 @@

hasNotificationNumber64hasNotificationNumber60
dcterms:identifier1200317NANDO:1200301
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Congenital thrombotic thrombocytopenic purpura" + "Borderline between aplastic anemia and MDS" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "MDSใจใฎๅขƒ็•Œๅž‹" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3104 + rdfs:label + "ใˆใ‚€ใงใƒใƒผใˆใ™ใจใฎใใ‚‡ใ†ใ‹ใ„ใŒใŸ" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/87https://www.nanbyou.or.jp/entry/265
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200316http://nanbyodata.jp/ontology/NANDO_1200298
+ skos:altLabel + "Borderline between aplastic anaemia and MDS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010122http://purl.obolibrary.org/obo/MONDO_0015909
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "MDSใจใฎๅขƒ็•Œๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200318 +
http://nanbyodata.jp/ontology/NANDO_1200302 (rdf:type owl:Class @@ -25768,60 +31031,84 @@

hasNotificationNumber64hasNotificationNumber60
dcterms:identifier1200318NANDO:1200302
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Acquired idiopathic thrombotic thrombocytopenic purpura" + "Congenital aplastic anemia" @en
rdfs:label - "ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docxhttp://nanbyodata.jp/ontology/NANDO_2201275
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/87https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/106
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200316http://nanbyodata.jp/ontology/NANDO_1200295
+ skos:altLabel + "Congenital aplastic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001713
skos:prefLabel - "ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200319 +
http://nanbyodata.jp/ontology/NANDO_1200303 (rdf:type owl:Class @@ -25829,60 +31116,94 @@

hasNotificationNumber64hasNotificationNumber60
dcterms:identifier1200319NANDO:1200303
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "secondary thromboticย thrombocytopenic purpura" + "Fanconi anemia" @en
rdfs:label - "ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docxhttp://nanbyodata.jp/ontology/NANDO_1200891
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/87http://nanbyodata.jp/ontology/NANDO_2200652
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00238
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157280.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4442
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200316http://nanbyodata.jp/ontology/NANDO_1200302
+ skos:altLabel + "Fanconi anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019391
skos:prefLabel - "ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#1200320 +
http://nanbyodata.jp/ontology/NANDO_1200304 (rdf:type owl:Class @@ -25890,79 +31211,84 @@

hasNotificationNumber65
- dcterms:description - "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซๅ…็–ซ็ณปใฎใ„ใšใ‚Œใ‹ใฎ้ƒจๅˆ†ใซๆฌ ้™ฅใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅพŒๅคฉ็š„ใซๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹ใ‚จใ‚คใ‚บใชใฉใฎๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ๅ…็–ซๆ‹…ๅฝ“็ดฐ่ƒž๏ผˆไพ‹ใˆใฐใ€ๅฅฝไธญ็ƒใ€T็ดฐ่ƒžใ€B็ดฐ่ƒž๏ผ‰ใชใฉใฎ็จฎ้กžใ‚„้ƒจไฝใซใ‚ˆใ‚Š200่ฟ‘ใใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹ใฎใฏใ€ๆ„ŸๆŸ“ใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๅŠ›ใฎไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚้‡็—‡ๆ„ŸๆŸ“ใฎใŸใ‚้‡็ฏคใช่‚บ็‚Žใ€ไธญ่€ณ็‚Žใ€่†ฟ็˜ใ€้ซ„่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚ๆ™‚ใซ็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ไธญ่€ณ็‚Žใฎๅๅพฉใซใ‚ˆใ‚‹้›ฃ่ดใ€่‚บๆ„ŸๆŸ“ใฎๅๅพฉใซใ‚ˆใ‚Šๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber60
dcterms:identifier1200320NANDO:1200304
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/060-201704-kojin.pdf
rdfs:label - "Primary Immunodeficiency Syndrome" + "Dyskeratosis congenita" @en
rdfs:label - "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttp://nanbyodata.jp/ontology/NANDO_1200342
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157706.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1200302
skos:altLabel - "Primary immunodeficiency" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003778http://purl.obolibrary.org/obo/MONDO_0015780
skos:prefLabel - "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200321 +
http://nanbyodata.jp/ontology/NANDO_1200305 (rdf:type owl:Class @@ -25970,70 +31296,103 @@

hasNotificationNumber65hasNotificationNumber61
+ dcterms:description + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆAIHA๏ผ‰ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒใฎๅฏฟๅ‘ฝใŒ่‘—ใ—ใ็Ÿญ็ธฎ๏ผˆๆบถ่ก€๏ผ‰ ใ—ใ€่ฒง่ก€ใ‚’ๆฅใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใซใคใชใŒใ‚‹็—…ๅ› ใฎ่ฉณ็ดฐใฏใ„ใพใ ไธๆ˜Žใฎ้ƒจๅˆ†ใŒๅคšใใ€่‡จๅบŠ็ตŒ้ŽใƒปไบˆๅพŒใฎ้ขใงใ‚‚ๅคšๆง˜ๆ€งใซๅฏŒใ‚€ไธๅ‡่ณชใช็—…ๆ…‹็พคใจ็†่งฃใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚’ๅ…ฑ้€š็‚นใจใ™ใ‚‹ใŒใ€ๆŠ—ไฝ“ใฎๆ€ง็Šถใ€่‡จๅบŠ็š„่กจ็พๅž‹ใ€ๅฅฝ็™บๅนด้ฝขใชใฉๆง˜ใ€…ใช่ฆณ็‚นใ‹ใ‚‰ใฟใฆ็•ฐใชใ‚‹็‰นๅพดใ‚’ใ‚‚ใค็—…ๆ…‹ใ‚’ๅŒ…ๅซใ™ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎ่ตค่ก€็ƒ็ตๅˆใฎๆœ€้ฉๆธฉๅบฆใซใ‚ˆใ‚Šๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200321NANDO:1200305
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdf
rdfs:label - "X-linked severe combined immunodeficiency" + "Autoimmune hemolytic anemia" @en
rdfs:label - "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3306http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9446
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01585
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/114
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "AIHA" + @en
+ skos:altLabel + "Autoimmune haemolytic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010315http://purl.obolibrary.org/obo/MONDO_0020108
skos:prefLabel - "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200322 +
http://nanbyodata.jp/ontology/NANDO_1200306 (rdf:type owl:Class @@ -26041,75 +31400,86 @@

hasNotificationNumber65hasNotificationNumber61
dcterms:identifier1200322NANDO:1200306
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdf
rdfs:label - "Reticular dysgenesis" + "Warm antibody hemolytic anemia" @en
rdfs:label - "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" + "ใŠใ‚“ใ—ใใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2960https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docx
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01128https://www.nanbyou.or.jp/entry/114
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200305
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95 + skos:altLabel + "Warm antibody AIHA" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320 + skos:altLabel + "Warm antibody haemolytic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009973http://purl.obolibrary.org/obo/MONDO_0019532
skos:prefLabel - "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" + "ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + - + - + - + + "CAD" + @en - +
http://nanbyodata.jp/ontology/nando#1200323 +
http://nanbyodata.jp/ontology/NANDO_1200307 (rdf:type owl:Class @@ -26117,77 +31487,84 @@

hasNotificationNumber65hasNotificationNumber61
dcterms:identifier1200323NANDO:1200307
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdf
rdfs:label - "Adenosine deaminase deficiency" + "Cold agglutinin disease" @en
rdfs:label - "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผ ๆฌ ๆ็—‡" + "ใ‹ใ‚“ใ‚Œใ„ใŽใ‚‡ใ†ใ—ใ‚…ใ†ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=35http://nanbyodata.jp/ontology/NANDO_2200618
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/269
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200305
skos:altLabel - "ADAๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007064http://purl.obolibrary.org/obo/MONDO_0018922
skos:prefLabel - "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผ ๆฌ ๆ็—‡" + "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + + "PCH" + @en + + + + - +
http://nanbyodata.jp/ontology/nando#1200324 +
http://nanbyodata.jp/ontology/NANDO_1200308 (rdf:type owl:Class @@ -26195,77 +31572,91 @@

hasNotificationNumber65hasNotificationNumber61
dcterms:identifier1200324NANDO:1200308
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdf
rdfs:label - "Omenn syndrome" + "Paroxysmal cold hemoglobinuria" @en
rdfs:label - "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" + "ใปใฃใ•ใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4157http://nanbyodata.jp/ontology/NANDO_2200619
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/269
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200305
skos:altLabel - "Omenn็—‡ๅ€™็พค" - @ja
+ skos:altLabel + "Paroxysmal cold haemoglobinuria" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011338http://purl.obolibrary.org/obo/MONDO_0019533
skos:prefLabel - "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" + "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + "ใ“ใ‚“ใ”ใ†ใŒใŸ" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200325 +
http://nanbyodata.jp/ontology/NANDO_1200309 (rdf:type owl:Class @@ -26273,70 +31664,79 @@

hasNotificationNumber65hasNotificationNumber61
dcterms:identifier1200325NANDO:1200309
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdf
rdfs:label - "Purine nucleoside phosphorylase deficiency" + "Mixed-type autoimmune hemolytic anemia" @en
rdfs:label - "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7372 + rdfs:label + "ๆททๅˆๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/269
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200305
+ skos:altLabel + "Mixed-type autoimmune haemolytic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013171http://purl.obolibrary.org/obo/MONDO_0019534
skos:prefLabel - "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ๆททๅˆๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200326 +
http://nanbyodata.jp/ontology/NANDO_1200310 (rdf:type owl:Class @@ -26344,60 +31744,79 @@

hasNotificationNumber65hasNotificationNumber61
dcterms:identifier1200326NANDO:1200310
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/061-201704-kojin.pdf
rdfs:label - "CD8 deficiency" + "Evans syndrome" @en
rdfs:label - "CD8ๆฌ ๆ็—‡" + "ใˆใฐใ‚“ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157713.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/269
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200305
+ skos:altLabel + "ใ‚จใƒใƒณใ‚น็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016030
skos:prefLabel - "CD8ๆฌ ๆ็—‡" + "ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "Paroxysmal nocturnal hemoglobinuria" + @en + "ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200327 +
http://nanbyodata.jp/ontology/NANDO_1200311 (rdf:type owl:Class @@ -26405,70 +31824,103 @@

hasNotificationNumber65hasNotificationNumber62
+ dcterms:description + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆParoximal Nocturnal Hemogrobinuria๏ผšPNH๏ผ‰ใฏใ€PIGA้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚’ไปฃ่กจใจใ™ใ‚‹้€ ่ก€ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏใพใ‚Œใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚PNHใฏใ€ๆ˜ญๅ’Œ49๏ผˆ1974๏ผ‰ๅนดใซๆบถ่ก€ๆ€ง่ฒง่ก€ใŒ็‰นๅฎš็–พๆ‚ฃใซๆŒ‡ๅฎšใ•ใ‚ŒใŸใ“ใจใซไผดใ„ใ€็ ”็ฉถๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅ–ใ‚ŠไธŠใ’ใ‚‰ใ‚Œใ€ใ€Œๆบถ่ก€ๆ€ง่ฒง่ก€่ชฟๆŸป็ ”็ฉถ็ญใ€๏ผˆ็ญ้•ทใ€€ไธ‰่ผชๅฒๆœ—๏ผ‰ใซใ‚ˆใฃใฆ็ต„็น”็š„ใช็ ”็ฉถใŒ้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‹ใ‚‰ไปŠๆ—ฅใซ่‡ณใ‚‹40ๅนดใซใ‚ใŸใฃใฆๆญดไปฃ็ญ้•ทใซใ‚ˆใ‚Š็–ซๅญฆใ€็—…ๅ› ใ€็—…ๆ…‹ใ€่จบๆ–ญใ€ๆฒป็™‚ใ€ไบˆๅพŒใชใฉๅน…ๅบƒใ„้ ˜ๅŸŸใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใŒ้‡ใญใ‚‰ใ‚ŒใฆใใŸใ€‚่จบๆ–ญๆ™‚๏ผˆๅˆ่จบๆ™‚๏ผ‰ๅนด้ฝขใฏใ€็‰น็™บๆ€ง้€ ่ก€้šœๅฎณใซ้–ขใ™ใ‚‹็ ”็ฉถ็ญใฎๅ…ฑๅŒ็ ”็ฉถใ€ŒPNHๆ‚ฃ่€…ใซใŠใ‘ใ‚‹่‡จๅบŠ็—…ๆญดใจ่‡ช็„ถๆญดใฎๆ—ฅ็ฑณๆฏ”่ผƒ่ชฟๆŸปใ€ใฎใƒ‡ใƒผใ‚ฟใซใ‚ˆใ‚‹ใจใ€45.1ๆญณ๏ผˆrange๏ผš10๏ฝž86๏ผ‰ใงใ‚ใฃใŸใ€‚่จบๆ–ญๆ™‚ๅนด้ฝขๅˆ†ๅธƒใฏใ€20๏ฝž60ๆญณไปฃใซๅคšใใพใ‚“ในใ‚“ใชใ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฌง็ฑณไพ‹ใงใฏใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟใ€่ก€ๆ “็—‡ใจใ„ใฃใŸPNHใฎๅคๅ…ธ็š„็—‡็ŠถใŒๅ‰้ขใซๅ‡บใ‚„ใ™ใ„ใฎใซๅฏพใ—ใ€ใ‚ขใ‚ธใ‚ขไพ‹ใงใฏใ‚€ใ—ใ‚้€ ่ก€ไธๅ…จ็—‡็ŠถใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200327NANDO:1200311
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdf
rdfs:label - "ZAP-70ๆฌ ๆ็—‡" - @ja
rdfs:label - "Zap-70 deficiency" - @en
+ rdfs:label + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3005http://nanbyodata.jp/ontology/NANDO_2200621
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01053
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3784
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "PNH" + @en
+ skos:altLabel + "Paroxysmal nocturnal haemoglobinuria" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010023http://purl.obolibrary.org/obo/MONDO_0018641
skos:prefLabel - "ZAP-70ๆฌ ๆ็—‡" + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + "ใ“ใฆใ‚“ใฆใใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200328 +
http://nanbyodata.jp/ontology/NANDO_1200312 (rdf:type owl:Class @@ -26476,70 +31928,86 @@

hasNotificationNumber65hasNotificationNumber62
dcterms:identifier1200328NANDO:1200312
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdf
rdfs:label - "MHC class I deficiency" + "Classical paroxysmal nocturnal hemoglobinuria" @en
rdfs:label - "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4275 + rdfs:label + "ๅคๅ…ธ็š„็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/3784
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200311
+ skos:altLabel + "Classical Paroxysmal Nocturnal Haemoglobinuria" + @en
+ skos:altLabel + "ๅคๅ…ธ็š„PNH" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011476http://purl.obolibrary.org/obo/MONDO_0018641
skos:prefLabel - "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡" + "ๅคๅ…ธ็š„็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + "ใ“ใคใšใ„ใตใœใ‚“ใŒใŸใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200329 +
http://nanbyodata.jp/ontology/NANDO_1200313 (rdf:type owl:Class @@ -26547,70 +32015,93 @@

hasNotificationNumber65hasNotificationNumber62
dcterms:identifier1200329NANDO:1200313
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdf
rdfs:label - "MHC class II deficiency" + "Paroxysmal nocturnal hemoglobinuria in the setting of another specified bone marrow disorder" @en
rdfs:label - "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1827 + rdfs:label + "้ชจ้ซ„ไธๅ…จๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/3784
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200311
+ skos:altLabel + "PNH in the setting of another specified bone marrow disorder" + @en
+ skos:altLabel + "Paroxysmal nocturnal haemoglobinuria in the setting of another specified bone marrow disorder" + @en
+ skos:altLabel + "้ชจ้ซ„ไธๅ…จๅž‹PNH" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008855http://purl.obolibrary.org/obo/MONDO_0018641
skos:prefLabel - "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡" + "้ชจ้ซ„ไธๅ…จๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + "ใ“ใ‚“ใ”ใ†ใŒใŸใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200330 +
http://nanbyodata.jp/ontology/NANDO_1200314 (rdf:type owl:Class @@ -26618,77 +32109,86 @@

hasNotificationNumber65hasNotificationNumber62
dcterms:identifier1200330NANDO:1200314
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/062-201704-kojin.pdf
rdfs:label - "Wiskott-Aldrich syndrome" + "Mixed type paroxysmal nocturnal hemoglobinuria" @en
rdfs:label - "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3330 + rdfs:label + "ๆททๅˆๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157767.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/3784
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200311
skos:altLabel - "Wiskott-Aldrich็—‡ๅ€™็พค" + "Mixed type paroxysmal nocturnal haemoglobinuria" + @en
+ skos:altLabel + "ๆททๅˆๅž‹PNH" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010518http://purl.obolibrary.org/obo/MONDO_0018641
skos:prefLabel - "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" + "ๆททๅˆๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
- - + - - + + + + + + - + - + + "ใจใใฏใคใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200331 +
http://nanbyodata.jp/ontology/NANDO_1200315 (rdf:type owl:Class @@ -26696,75 +32196,91 @@

hasNotificationNumber65hasNotificationNumber63
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็™บ็พใ—ใ€่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆฌง็ฑณใซใŠใ„ใฆๆœฌ็—‡ใฏใ€ไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆprimary immune thrombocytopenia๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฎๅทจๆ ธ็ƒ็”ฃ็”Ÿ่ƒฝใฎไฝŽไธ‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใชใ„ใ€‚ITPใฎ่จบๆ–ญใฏไปŠใงใ‚‚้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŸบ็คŽ็–พๆ‚ฃใ‚„ใ€่–ฌๅ‰คใฎ้–ขไธŽใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ยตLๆœชๆบ€ใ‚’ใ•ใ™ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ๅฐๆฟ่‡ชๅทฑๆŠ—ไฝ“ใŒ้ชจ้ซ„ๅทจๆ ธ็ƒใซใ‚‚็ตๅˆใ—ใ€่ก€ๅฐๆฟใฎ็”ฃ็”Ÿ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200331NANDO:1200315
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/063-201704-kojin.pdf
rdfs:label - "Ataxia telangiectasia" + "Idiopathic thrombocytopenic purpura" @en
rdfs:label - "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1812 + rdfs:label + "็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00064http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1528
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157747.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/303
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "Primary immune thrombocytopenia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008840http://purl.obolibrary.org/obo/MONDO_0008558
skos:prefLabel - "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" + "็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - - + + - + + + + - + - + + + + + - + - + - + + + + + - + + "TTP" + @en - +
http://nanbyodata.jp/ontology/nando#1200332 +
http://nanbyodata.jp/ontology/NANDO_1200316 (rdf:type owl:Class @@ -26772,77 +32288,96 @@

hasNotificationNumber65hasNotificationNumber64
+ + dcterms:description + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผšTTP๏ผ‰ใฏใ€1924ๅนด็ฑณๅ›ฝใฎEli Moschcowitzใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆญดๅฒ็š„ใซใฏ๏ผ‘๏ผ‰ๆถˆ่€—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€๏ผ“๏ผ‰่…ŽๆฉŸ่ƒฝ้šœๅฎณใ€๏ผ”๏ผ‰็™บ็†ฑใ€๏ผ•๏ผ‰ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ้šœๅฎณใฎๅคๅ…ธ็š„๏ผ•ๅพดๅ€™ใง่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€๏ผ‘๏ผ‰๏ผ’๏ผ‰ใฎใฟใฎ็—‡ไพ‹ใงใ‚‚ๅŒๆง˜ใฎ็—…ๆ…‹ใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸใŒใ€ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏADAMTS13ๆดปๆ€ง่‘—ๆธ›๏ผˆ10๏ผ…ๆœชๆบ€๏ผ‰ใฎใฟใŒTTPใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚TTPใฎ็ฝนๆ‚ฃๅนดไปคใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰่€ไบบใพใงใจๅน…ๅบƒใใ€ๆ—ฅๆœฌๅ›ฝๅ†…ใงใฏ30๏ฝž50ๆญณใจ60ๆญณๅ‰ๅพŒใซ็™บ็—‡ใƒ”ใƒผใ‚ฏใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฝนๆ‚ฃ็Ž‡ใฏๅฅณๆ€งใซใ‚„ใ‚„ๅคšใ„ใŒใ€30๏ฝž50ๆญณใงใฏๅฅณๆ€งใŒๆ˜Žใ‚‰ใ‹ใซๅคšใใ€้ซ˜้ฝขใซใชใ‚Œใฐ็”ทๆ€งใฎๆฏ”็Ž‡ใŒ้ซ˜ใพใ‚‹ใ€‚" + @ja
dcterms:identifier1200332NANDO:1200316
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdf
rdfs:label - "Nijmegen breakage syndrome" + "Thrombotic thrombocytopenic purpura" @en
rdfs:label - "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" + "ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2610http://nanbyodata.jp/ontology/NANDO_2200649
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00225
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/246
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1100006
skos:altLabel - "Nijmegen breakage็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009623http://purl.obolibrary.org/obo/MONDO_0018896
skos:prefLabel - "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200333 +
http://nanbyodata.jp/ontology/NANDO_1200317 (rdf:type owl:Class @@ -26850,82 +32385,98 @@

hasNotificationNumber65hasNotificationNumber64
dcterms:identifier1200333NANDO:1200317
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdf
rdfs:label - "Bloom syndrome" + "Congenital thrombotic thrombocytopenic purpura" @en
rdfs:label - "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1849 + rdfs:label + "ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01346http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3104
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/246
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200316
skos:altLabel - "Bloom็—‡ๅ€™็พค" + "Upshaw-Schulman syndrome" + @en
+ skos:altLabel + "Upshaw-Schulman็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ใ‚ขใƒƒใƒ—ใ‚ทใƒงใƒผใƒปใ‚ทใƒฅใƒผใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008876http://purl.obolibrary.org/obo/MONDO_0010122
skos:prefLabel - "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200334 +
http://nanbyodata.jp/ontology/NANDO_1200318 (rdf:type owl:Class @@ -26933,65 +32484,72 @@

hasNotificationNumber65hasNotificationNumber64
dcterms:identifier1200334NANDO:1200318
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdf
rdfs:label - "ICF syndrome" + "Acquired idiopathic thrombotic thrombocytopenic purpura" @en
rdfs:label - "ICF็—‡ๅ€™็พค" + "ใ“ใ†ใฆใ‚“ใ›ใ„ใ’ใ‚“ใฑใคใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/246
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200316
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000133http://purl.obolibrary.org/obo/MONDO_0019740
skos:prefLabel - "ICF็—‡ๅ€™็พค" + "ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - - + + - + - + - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200335 +
http://nanbyodata.jp/ontology/NANDO_1200319 (rdf:type owl:Class @@ -26999,131 +32557,79 @@

hasNotificationNumber65hasNotificationNumber64
dcterms:identifier1200335NANDO:1200319
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/064-201704-kojin.pdf
rdfs:label - "PMS2 deficiency" + "Secondary thrombotic thrombocytopenic purpura" @en
rdfs:label - "PMS2็•ฐๅธธ็—‡" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320
- skos:prefLabel - "PMS2็•ฐๅธธ็—‡" - @ja
- - - - - - - - - - - - - - - - - - + "ใ“ใ†ใฆใ‚“ใ›ใ„ใซใ˜ใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira - - - - - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200336 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber65
- dcterms:identifier1200336
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
- rdfs:label - "RIDDLE syndrome" - @en
rdfs:label - "RIDDLE็—‡ๅ€™็พค" + "ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7037
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157952.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/246
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200316
+ skos:altLabel + "Secondary TTP" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012764http://purl.obolibrary.org/obo/MONDO_0019740
skos:prefLabel - "RIDDLE็—‡ๅ€™็พค" + "ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - + + + + + - + + "ใ’ใ‚“ใฑใคใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + + "PID" + @en + + + + - +
http://nanbyodata.jp/ontology/nando#1200337 +
http://nanbyodata.jp/ontology/NANDO_1200320 (rdf:type owl:Class @@ -27131,13 +32637,20 @@

hasNotificationNumberhasNotificationNumber 65
+ dcterms:description + "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซๅ…็–ซ็ณปใฎใ„ใšใ‚Œใ‹ใฎ้ƒจๅˆ†ใซๆฌ ้™ฅใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅพŒๅคฉ็š„ใซๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹ใ‚จใ‚คใ‚บใชใฉใฎๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ๅ…็–ซๆ‹…ๅฝ“็ดฐ่ƒž๏ผˆไพ‹ใˆใฐใ€ๅฅฝไธญ็ƒใ€T็ดฐ่ƒžใ€B็ดฐ่ƒž๏ผ‰ใชใฉใฎ็จฎ้กžใ‚„้ƒจไฝใซใ‚ˆใ‚Š200่ฟ‘ใใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹ใฎใฏใ€ๆ„ŸๆŸ“ใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๅŠ›ใฎไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚้‡็—‡ๆ„ŸๆŸ“ใฎใŸใ‚้‡็ฏคใช่‚บ็‚Žใ€ไธญ่€ณ็‚Žใ€่†ฟ็˜ใ€้ซ„่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚ๆ™‚ใซ็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ไธญ่€ณ็‚Žใฎๅๅพฉใซใ‚ˆใ‚‹้›ฃ่ดใ€่‚บๆ„ŸๆŸ“ใฎๅๅพฉใซใ‚ˆใ‚Šๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200337NANDO:1200320
@@ -27148,20 +32661,22 @@

rdfs:label - "Schimke syndrome" + "Primary immunodeficiency syndrome" @en
rdfs:label - "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2448 + rdfs:label + "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" + @ja
@@ -27171,37 +32686,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1100006
skos:altLabel - "Schimke็—‡ๅ€™็พค" - @ja
+ skos:altLabel + "Primary immunodeficiency disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009458http://purl.obolibrary.org/obo/MONDO_0003778
skos:prefLabel - "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" + "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + - + - + - + + "X-SCID" + @en - +
http://nanbyodata.jp/ontology/nando#1200338 +
http://nanbyodata.jp/ontology/NANDO_1200321 (rdf:type owl:Class @@ -27209,13 +32731,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200338NANDO:1200321
@@ -27226,25 +32748,32 @@

rdfs:label - "Netherton syndrome" + "X-linked severe combined immunodeficiency" @en
rdfs:label - "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" + "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2721http://nanbyodata.jp/ontology/NANDO_2200694
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00671http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3306
@@ -27254,37 +32783,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "Netherton็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009735http://purl.obolibrary.org/obo/MONDO_0010315
skos:prefLabel - "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" + "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" @ja
- - + - + - + + + + + - + - + - - - - - - - - - - - - - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200339 +
http://nanbyodata.jp/ontology/NANDO_1200322 (rdf:type owl:Class @@ -27292,13 +32821,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200339NANDO:1200322
@@ -27309,86 +32838,70 @@

rdfs:label - "thymus hypoplasia" + "Reticular dysgenesis" @en
rdfs:label - "่ƒธ่…บไฝŽๅฝขๆˆ" + "ใ•ใ„ใ‚‚ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1538http://nanbyodata.jp/ontology/NANDO_2200695
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2960
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320
- skos:altLabel - "22q11.2 deletion syndrome" - @en
- skos:altLabel - "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" - @jahttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01128
- skos:altLabel - "DiGeorge syndrome" - @en + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
- skos:altLabel - "DiGeorge็—‡ๅ€™็พค" - @ja + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/254
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008564 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018923http://purl.obolibrary.org/obo/MONDO_0009973
skos:prefLabel - "่ƒธ่…บไฝŽๅฝขๆˆ" + "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" @ja
- - + - + - + + + + + + + + + + + + + + + + + @@ -27431,30 +32966,44 @@

- + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200340 +
http://nanbyodata.jp/ontology/NANDO_1200323 (rdf:type owl:Class @@ -27396,13 +32909,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200340NANDO:1200323
@@ -27413,17 +32926,39 @@

rdfs:label - "Hyper-IgE syndrome" + "Adenosine deaminase deficiency" @en
rdfs:label - "้ซ˜IgE็—‡ๅ€™็พค" + "ใ‚ใงใฎใ—ใ‚“ใงใ‚ใฟใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200696
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=35
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02309
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "ADA deficiency" + @en
+ skos:altLabel + "ADAๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018037http://purl.obolibrary.org/obo/MONDO_0007064
skos:prefLabel - "้ซ˜IgE็—‡ๅ€™็พค" + "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - + - + + + + + - + + + + + - + - + + "Omenn็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#1200341 +
http://nanbyodata.jp/ontology/NANDO_1200324 (rdf:type owl:Class @@ -27462,13 +33011,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200341NANDO:1200324
@@ -27479,20 +33028,32 @@

rdfs:label - "Hepatic veno-occlusive disease-immunodeficiency syndrome" + "Omenn syndrome" @en
rdfs:label - "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" + "ใŠใƒผใ‚ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2325http://nanbyodata.jp/ontology/NANDO_2200697
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4157
@@ -27502,37 +33063,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "Hepaticย Veno-Occlusive Diseaseย withย Immunodeficiency" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009338http://purl.obolibrary.org/obo/MONDO_0011338
skos:prefLabel - "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" + "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" @ja
- - + - + - + + + + + + + + + + + + + @@ -27575,30 +33153,30 @@

- + - + - +
http://nanbyodata.jp/ontology/nando#1200342 +
http://nanbyodata.jp/ontology/NANDO_1200325 (rdf:type owl:Class @@ -27540,13 +33101,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200342NANDO:1200325
@@ -27557,17 +33118,34 @@

rdfs:label - "Dyskeratosis congenita" + "Purine nucleoside phosphorylase deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡" + "ใทใ‚Šใ‚“ใฌใใ‚ŒใŠใ—ใฉใปใ™ใปใ‚Šใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200698
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7372
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015780http://purl.obolibrary.org/obo/MONDO_0013171
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡" + "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - + - + + + + + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200343 +
http://nanbyodata.jp/ontology/NANDO_1200326 (rdf:type owl:Class @@ -27606,13 +33184,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200343NANDO:1200326
@@ -27623,20 +33201,32 @@

rdfs:label - "X-linked agammaglobulinemia" + "CD8 deficiency" @en
rdfs:label - "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" + "CD8ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผใงใƒใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7155http://nanbyodata.jp/ontology/NANDO_2200699
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6453
@@ -27646,30 +33236,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010421http://purl.obolibrary.org/obo/MONDO_0012161
skos:prefLabel - "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" + "CD8ๆฌ ๆ็—‡" @ja
- - + - + - + + + + + + "ใ–ใฃใท70ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200344 +
http://nanbyodata.jp/ontology/NANDO_1200327 (rdf:type owl:Class @@ -27677,13 +33267,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200344NANDO:1200327
@@ -27694,20 +33284,32 @@

rdfs:label - "Common variable immunodeficiency" + "ZAP-70ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Zap-70 deficiency" @en
rdfs:label - "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00088http://nanbyodata.jp/ontology/NANDO_2200700
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3005
@@ -27717,30 +33319,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015517http://purl.obolibrary.org/obo/MONDO_0010023
skos:prefLabel - "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" + "ZAP-70ๆฌ ๆ็—‡" @ja
- - + - + - + + + + + - + + + + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200345 +
http://nanbyodata.jp/ontology/NANDO_1200328 (rdf:type owl:Class @@ -27748,13 +33350,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200345NANDO:1200328
@@ -27765,20 +33367,32 @@

rdfs:label - "Hyper IgM syndrome" + "MHC class I deficiency" @en
rdfs:label - "้ซ˜IgM็—‡ๅ€™็พค" + "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3451http://nanbyodata.jp/ontology/NANDO_2200701
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4275
@@ -27788,35 +33402,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003947 + skos:altLabel + "Major histocompatibility complex class I deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010626http://purl.obolibrary.org/obo/MONDO_0011476
skos:prefLabel - "้ซ˜IgM็—‡ๅ€™็พค" + "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡" @ja
- - + - + - + + + + + + + + + + + + + @@ -27859,30 +33492,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200346 +
http://nanbyodata.jp/ontology/NANDO_1200329 (rdf:type owl:Class @@ -27824,13 +33440,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200346NANDO:1200329
@@ -27841,17 +33457,34 @@

rdfs:label - "IgG subclass deficiency" + "MHC class II deficiency" @en
rdfs:label - "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" + "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200702
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1827
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "Major histocompatibility complex class II deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0045045http://purl.obolibrary.org/obo/MONDO_0008855
skos:prefLabel - "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" + "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡" @ja
- - + - + - + + + + + - + - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200347 +
http://nanbyodata.jp/ontology/NANDO_1200330 (rdf:type owl:Class @@ -27890,13 +33530,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200347NANDO:1200330
@@ -27907,81 +33547,42 @@

rdfs:label - "Selective IgA deficiency" + "Wiskott-Aldrich syndrome" @en
rdfs:label - "้ธๆŠž็š„IgAๆฌ ๆ็—‡" + "ใ†ใƒใ™ใ“ใฃใจใƒปใŠใ‚‹ใฉใ‚Šใฃใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttp://nanbyodata.jp/ontology/NANDO_2200704
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001341
- skos:prefLabel - "้ธๆŠž็š„IgAๆฌ ๆ็—‡" - @ja
- - - - - - - - - - - - - - + - - + + - - + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200348 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber65
- dcterms:identifier1200348
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdfhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3330
- rdfs:label - "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" - @en + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3331
- rdfs:label - "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" - @ja + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01523
@@ -27991,25 +33592,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "Wiskott-Aldrich็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010518
skos:prefLabel - "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" + "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200349 +
http://nanbyodata.jp/ontology/NANDO_1200331 (rdf:type owl:Class @@ -28017,13 +33630,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200349NANDO:1200331
@@ -28034,86 +33647,42 @@

rdfs:label - "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" + "Ataxia telangiectasia" @en
rdfs:label - "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" + "ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docxhttp://nanbyodata.jp/ontology/NANDO_2200705
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320
- skos:prefLabel - "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" - @ja
- - - - - - - - - - - - - - - - - - - - - - + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200350 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber65
- dcterms:identifier1200350
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
- rdfs:label - "Chรฉdiak-Higashi syndrome" - @en
- rdfs:label - "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" - @jahttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1812
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1940http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6606
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02021https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00064
@@ -28123,37 +33692,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320
- skos:altLabel - "Chรฉdiak-Higashi็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008963http://purl.obolibrary.org/obo/MONDO_0008840
skos:prefLabel - "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" + "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" @ja
- - + - + - + + + + + + + + + + + + + + + + + @@ -28196,30 +33780,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200351 +
http://nanbyodata.jp/ontology/NANDO_1200332 (rdf:type owl:Class @@ -28161,13 +33723,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200351NANDO:1200332
@@ -28178,17 +33740,39 @@

rdfs:label - "X-linked lymphoproliferative syndrome" + "Nijmegen breakage syndrome" @en
rdfs:label - "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + "ใชใ„ใฟใƒผใธใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใตใ‚ใ‚“ใฆใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200706
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2610
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2611
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "Nijmegen breakage็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010627http://purl.obolibrary.org/obo/MONDO_0009623
skos:prefLabel - "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + - + + + + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200352 +
http://nanbyodata.jp/ontology/NANDO_1200333 (rdf:type owl:Class @@ -28227,13 +33818,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200352NANDO:1200333
@@ -28244,25 +33835,37 @@

rdfs:label - "Autoimmune lymphoproliferative syndrome" + "Bloom syndrome" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + "ใถใ‚‹ใƒผใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3977http://nanbyodata.jp/ontology/NANDO_2200707
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00108http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1849
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01346
@@ -28272,49 +33875,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "ALPS" - @en
- skos:altLabel - "ALPS" + "Bloom็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011158
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017979http://purl.obolibrary.org/obo/MONDO_0008876
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" @ja
- - + - + - + + + + + + + + + @@ -28357,30 +33960,30 @@

- + - + - +
http://nanbyodata.jp/ontology/nando#1200353 +
http://nanbyodata.jp/ontology/NANDO_1200334 (rdf:type owl:Class @@ -28322,13 +33913,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200353NANDO:1200334
@@ -28339,17 +33930,29 @@

rdfs:label - "Severe congenital neutropenia" + "ICF syndrome" @en
rdfs:label - "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ICF็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ‚ใ„ใ—ใƒผใˆใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200708
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018542http://purl.obolibrary.org/obo/MONDO_0000133
skos:prefLabel - "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ICF็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200354 +
http://nanbyodata.jp/ontology/NANDO_1200335 (rdf:type owl:Class @@ -28388,13 +33991,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200354NANDO:1200335
@@ -28405,20 +34008,27 @@

rdfs:label - "Cyclic neutropenia" + "PMS2 deficiency" @en
rdfs:label - "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "PMS2็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใดใƒผใˆใ‚€ใˆใ™2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1079http://nanbyodata.jp/ontology/NANDO_2200709
@@ -28428,30 +34038,25 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008090http://nanbyodata.jp/ontology/NANDO_1200320
skos:prefLabel - "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "PMS2็•ฐๅธธ็—‡" @ja
- - + - + - + + + + + + + + + + + + + + + + + @@ -28494,30 +34121,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200355 +
http://nanbyodata.jp/ontology/NANDO_1200336 (rdf:type owl:Class @@ -28459,13 +34064,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200355NANDO:1200336
@@ -28476,17 +34081,39 @@

rdfs:label - "Leukocyte adhesion deficiency" + "RIDDLE syndrome" @en
rdfs:label - "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" + "RIDDLE็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200710
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7037
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00962
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "Radiosensitivity, immunodeficiency dysmorphic features and learning difficulties syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017570http://purl.obolibrary.org/obo/MONDO_0012764
skos:prefLabel - "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" + "RIDDLE็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200356 +
http://nanbyodata.jp/ontology/NANDO_1200337 (rdf:type owl:Class @@ -28525,13 +34159,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200356NANDO:1200337
@@ -28542,20 +34176,32 @@

rdfs:label - "Shwachman-Diamond syndrome" + "Schimke syndrome" @en
rdfs:label - "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" + "ใ—ใ‚€ใ‘ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2817http://nanbyodata.jp/ontology/NANDO_2200711
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2448
@@ -28565,42 +34211,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "Shwachman-Diamond็—‡ๅ€™็พค" + "Schimke็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009833
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044204http://purl.obolibrary.org/obo/MONDO_0009458
skos:prefLabel - "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" + "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + + + + + + + + + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200357 +
http://nanbyodata.jp/ontology/NANDO_1200338 (rdf:type owl:Class @@ -28608,13 +34249,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200357NANDO:1200338
@@ -28625,20 +34266,42 @@

rdfs:label - "Chronic granulomatous disease" + "Netherton syndrome" @en
rdfs:label - "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" + "ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00098http://nanbyodata.jp/ontology/NANDO_1200619
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200993
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2721
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00671
@@ -28648,30 +34311,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "Netherton็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018305http://purl.obolibrary.org/obo/MONDO_0009735
skos:prefLabel - "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" + "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + - + + + + + - + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200358 +
http://nanbyodata.jp/ontology/NANDO_1200339 (rdf:type owl:Class @@ -28679,13 +34349,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200358NANDO:1200339
@@ -28696,25 +34366,37 @@

rdfs:label - "Myeloperoxidase deficiency" + "Thymus hypoplasia" @en
rdfs:label - "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "ใใ‚‡ใ†ใ›ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„" + @ja-Hira
+ rdfs:label + "่ƒธ่…บไฝŽๅฝขๆˆ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2680http://nanbyodata.jp/ontology/NANDO_2200712
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02025http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1538
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1614
@@ -28724,30 +34406,75 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "22q11.2 deletion syndrome" + @en
+ skos:altLabel + "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "DiGeorge syndrome" + @en
+ skos:altLabel + "DiGeorge็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ใƒ‡ใ‚คใ‚ธใƒงใƒผใ‚ธ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009694http://purl.obolibrary.org/obo/MONDO_0008564
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008644
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018923
skos:prefLabel - "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "่ƒธ่…บไฝŽๅฝขๆˆ" @ja
- - + - + - + + + + + + + + + @@ -28790,25 +34529,30 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200359 +
http://nanbyodata.jp/ontology/NANDO_1200340 (rdf:type owl:Class @@ -28755,13 +34482,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200359NANDO:1200340
@@ -28772,17 +34499,29 @@

rdfs:label - "Mendelian susceptibility to mycobacterial disease" + "Hyper-IgE syndrome" @en
rdfs:label - "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" + "ใ“ใ†ใ‚ใ„ใ˜ใƒผใ„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜IgE็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200713
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018037
skos:prefLabel - "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" + "้ซ˜IgE็—‡ๅ€™็พค" @ja
- - + - + - + + + + + + + + + + + + + @@ -28851,30 +34612,37 @@

- + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200360 +
http://nanbyodata.jp/ontology/NANDO_1200341 (rdf:type owl:Class @@ -28816,13 +34560,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200360NANDO:1200341
@@ -28833,17 +34577,34 @@

rdfs:label - "Anhidrotic ectodermal dysplasia with immunodeficiency" + "Hepatic veno-occlusive disease with immunodeficiency" @en
rdfs:label - "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" + "ใ‹ใ‚“ใกใ‚…ใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200714
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2325
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "VODI" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010293http://purl.obolibrary.org/obo/MONDO_0009338
skos:prefLabel - "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" + "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" @ja
- - + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200361 +
http://nanbyodata.jp/ontology/NANDO_1200342 (rdf:type owl:Class @@ -28882,13 +34650,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200361NANDO:1200342
@@ -28899,20 +34667,27 @@

rdfs:label - "IRAK4 deficiency" + "Dyskeratosis congenita" @en
rdfs:label - "IRAK4ๆฌ ๆ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4636http://nanbyodata.jp/ontology/NANDO_1200304
@@ -28922,30 +34697,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011888http://purl.obolibrary.org/obo/MONDO_0015780
skos:prefLabel - "IRAK4ๆฌ ๆ็—‡" + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200362 +
http://nanbyodata.jp/ontology/NANDO_1200343 (rdf:type owl:Class @@ -28953,13 +34735,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200362NANDO:1200343
@@ -28970,20 +34752,32 @@

rdfs:label - "MyD88 deficiency" + "X-linked agammaglobulinemia" @en
rdfs:label - "MyD88ๆฌ ๆ็—‡" + "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚€ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7095http://nanbyodata.jp/ontology/NANDO_2200716
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7155
@@ -28993,30 +34787,51 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "X-linked agammaglobulinaemia" + @en
+ skos:altLabel + "XLA" + @en
+ skos:altLabel + "X้€ฃ้Ž–็„กฮณใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012839http://purl.obolibrary.org/obo/MONDO_0010421
skos:prefLabel - "MyD88ๆฌ ๆ็—‡" + "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
- - + - + - + + + + + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200363 +
http://nanbyodata.jp/ontology/NANDO_1200344 (rdf:type owl:Class @@ -29024,13 +34839,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200363NANDO:1200344
@@ -29041,20 +34856,32 @@

rdfs:label - "Chronic mucocutaneous candidiasis" + "Common variable immunodeficiency" @en
rdfs:label - "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" + "ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใŒใŸใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01109http://nanbyodata.jp/ontology/NANDO_2200717
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00088
@@ -29064,30 +34891,37 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "CVID" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015279http://purl.obolibrary.org/obo/MONDO_0015517
skos:prefLabel - "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" + "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" @ja
- - + - + - + + + + + + + + + @@ -29130,25 +34976,30 @@

- + - + + + + +
http://nanbyodata.jp/ontology/nando#1200364 +
http://nanbyodata.jp/ontology/NANDO_1200345 (rdf:type owl:Class @@ -29095,13 +34929,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200364NANDO:1200345
@@ -29112,17 +34946,29 @@

rdfs:label - "Inherited deficiency of complement system" + "Hyper-IgM syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + "ใ“ใ†ใ‚ใ„ใ˜ใƒผใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜IgM็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200718
rdfs:seeAlso https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003947
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + "้ซ˜IgM็—‡ๅ€™็พค" @ja
- - + - + - + + + + + - + - + - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200365 +
http://nanbyodata.jp/ontology/NANDO_1200346 (rdf:type owl:Class @@ -29156,13 +35007,13 @@

hasNotificationNumberhasNotificationNumber 65
dcterms:identifier1200365NANDO:1200346
@@ -29173,20 +35024,27 @@

rdfs:label - "Hereditary angioedema" + "IgG subclass deficiency" @en
rdfs:label - "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" + "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใ˜ใƒผใ˜ใƒผใ•ใถใใ‚‰ใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01006http://nanbyodata.jp/ontology/NANDO_2200719
@@ -29196,49 +35054,30 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/95https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200320
- skos:altLabel - "C1 inhibitor deficiency" - @en
- skos:altLabel - "C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007361http://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019623http://purl.obolibrary.org/obo/MONDO_0045045
skos:prefLabel - "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" + "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200366 +
http://nanbyodata.jp/ontology/NANDO_1200347 (rdf:type owl:Class @@ -29246,72 +35085,77 @@

hasNotificationNumber66
- dcterms:description - "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกใ€็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใจๅŸบ่ณชใฎๅข—ๆฎ–ๆ€งๅค‰ๅŒ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎIgAใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆฒˆ็€็‰ฉใจใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚ๅŒ็พฉ่ชžใจใ—ใฆIgA่…Ž็‚Žใ€ใƒใƒผใ‚ธใƒฃใƒผ๏ผˆBuerger๏ผ‰็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎไธ€็—…ๅž‹ใจใ—ใฆ็ขบ็ซ‹ใ—ใฆใ„ใ‚‹ใŒใ€ๆ—ฅๆœฌใซใŠใ„ใฆใฏ1970ๅนดไปฃๅˆๆœŸใ‹ใ‚‰ๆดป็™บใช็ ”็ฉถใŒ่กŒใ‚ใ‚Œใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกๆˆไบบใงใฏ30๏ผ…ไปฅไธŠใ€ๅฐๅ…ใงใ‚‚20๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๆ—ฅๆœฌใจๅŒใ˜ใ‚ˆใ†ใซๆœฌ็—‡ใŒๅคš็™บใ™ใ‚‹ๅ›ฝใจใ—ใฆใฏใ€ใ‚ขใ‚ธใ‚ขๅคชๅนณๆด‹ๅœฐๅŸŸใฎ่ซธๅ›ฝใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅŒ—ๆฌงใ‚„ๅŒ—็ฑณใงใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชๅœฐๅŸŸๅทฎใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚Šใ€ไธ€้ƒจใงใฏ่…Ž็”Ÿๆคœๆ–ฝ่กŒใฎ้ ปๅบฆใจๆฏ”ไพ‹ใ™ใ‚‹ใจใ‚‚ใ„ใ‚ใ‚Œใ€ๅŒ—็ฑณใซใŠใ„ใฆใฏ็™ฝไบบใซใฏๅคšใ„ใŒใ€้ป’ไบบใงใฏใพใ‚Œใงใ‚ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€ไฝ•ใ‚‰ใ‹ใฎไบบ็จฎ็š„ใƒป้บไผ็š„่ƒŒๆ™ฏใ‚‚ๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบใƒปๅฐๅ…ๅ…ฑใซ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ่ฆ‹ๆ™‚ใฎๅนด้ฝขใฏๆˆไบบใงใฏ20ๆญณไปฃใ€ๅฐๅ…ใงใฏ10ๆญณไปฃใŒๅคšใ„ใŒใ€ๆ‚ฃ่€…ๅฑคใฏๅ…จใฆใฎๅนด้ฝขใซใ‚ใŸใฃใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200366NANDO:1200347
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/066-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "IgA Nephropathy" + "Selective IgA deficiency" @en
rdfs:label - "Ig๏ผก่…Ž็—‡" + "ใ›ใ‚“ใŸใใฆใใ‚ใ„ใ˜ใƒผใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ธๆŠž็š„IgAๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198061.docxhttp://nanbyodata.jp/ontology/NANDO_2200720
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/41https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005342http://purl.obolibrary.org/obo/MONDO_0001341
skos:prefLabel - "Ig๏ผก่…Ž็—‡" + "้ธๆŠž็š„IgAๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200367 +
http://nanbyodata.jp/ontology/NANDO_1200348 (rdf:type owl:Class @@ -29319,79 +35163,77 @@

hasNotificationNumber67
- dcterms:description - "ไธกๅดใฎ่…Ž่‡“ใซๅšข่ƒžใŒ็„กๆ•ฐใซ็”Ÿใ˜ใ‚‹ใ€้บไผๆ€ง็–พๆ‚ฃใ€‚ๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆPolycystic Kidney๏ผ‰ใซใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Dominant Polycystic Kidney Disease๏ผšADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Recessive Polycystic Kidney Disease๏ผšARPKD๏ผ‰ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200367NANDO:1200348
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Polycystic Kidney Disease" + "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" @en
rdfs:label - "ๅคš็™บๆ€งๅšข่ƒž่…Ž" + "ใจใใ„ใ“ใ†ใŸใ„ใ•ใ‚“ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00542http://nanbyodata.jp/ontology/NANDO_2200721
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198063.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/146https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007
- skos:altLabel - "Polycystic kidney" - @enhttp://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020642http://purl.obolibrary.org/obo/MONDO_0015711
skos:prefLabel - "ๅคš็™บๆ€งๅšข่ƒž่…Ž" + "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200368 +
http://nanbyodata.jp/ontology/NANDO_1200349 (rdf:type owl:Class @@ -29399,72 +35241,84 @@

hasNotificationNumber67hasNotificationNumber65
dcterms:identifier1200368NANDO:1200349
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/067-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Autosomal Dominant Polycystic Kidney Disease" + "Transient hypogammaglobulinemia of infancy with normal numbers of B cells" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" + "ใซใ‚…ใ†ใ˜ใ„ใฃใ‹ใ›ใ„ใฆใ„ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198063.docxhttp://nanbyodata.jp/ontology/NANDO_2200722
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/146https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200367http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "ADPKD" + "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004691http://purl.obolibrary.org/obo/MONDO_0015698
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" + "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200369 +
http://nanbyodata.jp/ontology/NANDO_1200350 (rdf:type owl:Class @@ -29472,77 +35326,106 @@

hasNotificationNumber67hasNotificationNumber65
dcterms:identifier1200369NANDO:1200350
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/067-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Autosomal Recessive Polycystic Kidney Disease" + "Chรฉdiak-Higashi syndrome" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" + "ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2873http://nanbyodata.jp/ontology/NANDO_1200639
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198063.docxhttp://nanbyodata.jp/ontology/NANDO_2200724
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1940
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02021
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/146https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200367http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "ARPKD" + "CHS" @en
+ skos:altLabel + "Chรฉdiak-Higashi็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009889http://purl.obolibrary.org/obo/MONDO_0008963
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" + "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200370 +
http://nanbyodata.jp/ontology/NANDO_1200351 (rdf:type owl:Class @@ -29550,74 +35433,84 @@

hasNotificationNumber68
- dcterms:description - "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡๏ผˆthe ossification of the ligamentum flavum๏ผšOLF๏ผ‰ใฏใ€้ป„่‰ฒ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€่ƒธ่…ฐ็งป่กŒ้ƒจใซๅคšใ„ใŒใ€ๅ…จ่„ŠๆŸฑใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่จบๆ–ญใซใฏๅ˜็ด”ใƒฌใƒณใƒˆใ‚ฒใƒณๅ†™็œŸใ€ๆ–ญๅฑคๅ†™็œŸใ‚ใ‚‹ใ„ใฏMRIใ€CTใŒๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคšๆคŽ้–“็ฝนๆ‚ฃไพ‹ใฏ็ด„35๏ผ…ใงใ‚ใ‚‹ใ€‚้ ธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใ€ใ‚ใ‚‹ใ„ใฏ่ƒธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใจๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€่„ŠๆŸฑ็ฎกๅ†…้ฑๅธฏ้ชจๅŒ–ใฎไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200370NANDO:1200351
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/068-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Ossification of Ligamentum Flavum" + "X-linked lymphoproliferative syndrome" @en
rdfs:label - "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡" + "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157671.docxhttp://nanbyodata.jp/ontology/NANDO_2200725
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/58https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "Ossification of the ligamentum flavum" + "XLP" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010627
skos:prefLabel - "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡" + "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200371 +
http://nanbyodata.jp/ontology/NANDO_1200352 (rdf:type owl:Class @@ -29625,77 +35518,96 @@

hasNotificationNumber69
- dcterms:description - "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใฏใ€่„ŠๆคŽๆคŽไฝ“ใฎๅพŒ็ธใ‚’้€ฃ็ตใ—ใ€่„ŠๆŸฑใฎใปใผๅ…จ้•ทใ‚’็ธฆ่ตฐใ™ใ‚‹ๅพŒ็ธฆ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ŠๆคŽ็ฎก็‹ญ็ช„ใ‚’ๆฅใ—ใ€่„Š้ซ„ๅˆใฏ็ฅž็ตŒๆ นใฎๅœง่ฟซ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ธๆคŽใซๆœ€ใ‚‚ๅคšใ„ใŒใ€่ƒธๆคŽใ‚„่…ฐๆคŽใซใ‚‚็”Ÿใ˜ใ‚‹ใ€‚ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ๆ‚ฃ่€…ใงใฏใ€ๅ‰็ธฆ้ฑๅธฏ้ชจๅŒ–ใ‚’ไธญๅฟƒใจใ—ใฆใ€ๅบƒๆฑŽใซ่„ŠๆŸฑ้ฑๅธฏ้ชจๅŒ–ใ‚’ๆฅใ™ๅผท็›ดๆ€ง่„ŠๆคŽ้ชจๅข—ๆฎ–็—‡ใ‚’็ด„40๏ผ…ใซๅˆไฝตใ—ใ€ใพใŸ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–ใ‚„ๆฃ˜ไธŠ้ฑๅธฏ้ชจๅŒ–ใฎๅˆไฝตใ‚‚ๅคšใใ€่„ŠๆคŽ้ฑๅธฏ้ชจๅŒ–ใฎไธ€้ƒจๅˆ†็—‡ใจใ—ใฆๆ‰ใˆใ‚‹่€ƒใˆใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200371NANDO:1200352
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/069-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Ossification of posterior longitudinal ligament" + "Autoimmune lymphoproliferative syndrome" @en
rdfs:label - "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4051http://nanbyodata.jp/ontology/NANDO_2200726
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157699.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00108
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/98https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "ALPS" + @en
+ skos:altLabel + "ALPS" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011230http://purl.obolibrary.org/obo/MONDO_0017979
skos:prefLabel - "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡" + "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200372 +
http://nanbyodata.jp/ontology/NANDO_1200353 (rdf:type owl:Class @@ -29703,79 +35615,77 @@

hasNotificationNumber70
- dcterms:description - "้ ธใ€่ƒธใ€่…ฐๆคŽ้ƒจใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹่„ŠๆŸฑ็ฎก็‹ญๅฐใซใ‚ˆใ‚Šใ€่„Š้ซ„ใ€้ฆฌๅฐพ็ฅž็ตŒๅˆใฏ็ฅž็ตŒๆ นใฎ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200372NANDO:1200353
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/070-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Coexisting Cervical and Lumbar Spinal Stenosis" + "Severe congenital neutropenia" @en
rdfs:label - "ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡" + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198064.docxhttp://nanbyodata.jp/ontology/NANDO_2200745
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/101https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/254
- skos:altLabel - "Spinal stenosis" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005965http://purl.obolibrary.org/obo/MONDO_0018542
skos:prefLabel - "ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡" + "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200373 +
http://nanbyodata.jp/ontology/NANDO_1200354 (rdf:type owl:Class @@ -29783,74 +35693,82 @@

hasNotificationNumber71
- dcterms:description - "ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฏใ€ๅคง่…ฟ้ชจ้ ญใŒ้˜ป่ก€ๆ€งๅฃŠๆญปใซ้™ฅใฃใฆๅœงๆฝฐใ—ใ€่‚ก้–ข็ฏ€ๆฉŸ่ƒฝใŒๅคฑใ‚ใ‚Œใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎใ†ใกใ€ ่„ฑ่‡ผใ‚„้ชจๆŠ˜ใชใฉใฎ้˜ป่ก€ๅŽŸๅ› ใŒๆ˜Žใ‚‰ใ‹ใงใ‚ใ‚‹ๅ ดๅˆไปฅๅค–ใŒ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎๆฒป็™‚ใฏ้•ทๆœŸ้–“ใซๅŠใถใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅŒป็™‚็ตŒๆธˆๅญฆ็š„ใซๅ•้กŒใŒๅคงใใ„ใ€‚ใพใŸใ€้’ใƒปๅฃฎๅนดๆœŸใซๅฅฝ็™บใ—ใฆๅŠดๅƒ่ƒฝๅŠ›ใ‚’่‘—ใ—ใไฝŽไธ‹ใ•ใ›ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅŠดๅƒ็ตŒๆธˆๅญฆ็š„ใซใ‚‚ๅคงใใชๆๅคฑใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎQOLใซๅคงใใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใซ้ฉๅˆ‡ใช่จบๆ–ญใ‚’่กŒใ„ใ€้ฉๅˆ‡ใชๆฒป็™‚ใธใจ็ตใณใคใ‘ใฆใ„ใๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200373NANDO:1200354
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/071-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Idiopathic Osteonecrosis of Femoral Head" + "Cyclic neutropenia" @en
rdfs:label - "็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡" + "ใ—ใ‚…ใ†ใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157748.docxhttp://nanbyodata.jp/ontology/NANDO_2200746
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1079
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/160https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1200320
- skos:altLabel - "Idiopathic osteonecrosis of the femoral head" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008090
skos:prefLabel - "็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡" + "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200374 +
http://nanbyodata.jp/ontology/NANDO_1200355 (rdf:type owl:Class @@ -29858,69 +35776,89 @@

hasNotificationNumber72
- dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200374NANDO:1200355
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Diencephalo-hypophysial Insufficiency-Inappropriate ADH Syndrome" + "Leukocyte adhesion deficiency" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡" + "ใฏใฃใ‘ใฃใใ‚…ใ†ใ›ใฃใกใ‚ƒใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157673.docxhttp://nanbyodata.jp/ontology/NANDO_2200755
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00099
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3988https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "Pituitary ADH secretion disorders" + "LAD" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017570
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡" + "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + "SDS" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200375 +
http://nanbyodata.jp/ontology/NANDO_1200356 (rdf:type owl:Class @@ -29928,82 +35866,96 @@

hasNotificationNumber72hasNotificationNumber65
dcterms:identifier1200375NANDO:1200356
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/072-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Central diabetes insipidus" + "Shwachman-Diamond syndrome" @en
rdfs:label - "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" + "ใ—ใ‚…ใ‚ใฃใฏใพใ‚“ใƒปใ ใ„ใ‚ใ‚‚ใ‚“ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=431http://nanbyodata.jp/ontology/NANDO_2200756
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157673.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00439
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3988https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200374http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007450 + skos:altLabel + "Shwachman-Diamond็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015790http://purl.obolibrary.org/obo/MONDO_0009833
skos:prefLabel - "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" + "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200376 +
http://nanbyodata.jp/ontology/NANDO_1200357 (rdf:type owl:Class @@ -30011,72 +35963,89 @@

hasNotificationNumber72hasNotificationNumber65
dcterms:identifier1200376NANDO:1200357
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/072-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Syndrome of inappropriate secretion of antidiuretic hormone" + "Chronic granulomatous disease" @en
rdfs:label - "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡" + "ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157673.docxhttp://nanbyodata.jp/ontology/NANDO_2200757
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00098
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3988https://www.nanbyou.or.jp/entry/95
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200374http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "SIADH" + "CGD" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006802http://purl.obolibrary.org/obo/MONDO_0018305
skos:prefLabel - "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡" + "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - + + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200377 +
http://nanbyodata.jp/ontology/NANDO_1200358 (rdf:type owl:Class @@ -30084,79 +36053,87 @@

hasNotificationNumber73
- dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200377NANDO:1200358
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/073-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Diencephalo-hypophysial Insufficiency-Inappropriate Thyroid stimulating Hormone Syndrome" + "Myeloperoxidase deficiency" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡" + "ใฟใˆใ‚ใบใ‚‹ใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157676.docxhttp://nanbyodata.jp/ontology/NANDO_2200758
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/64http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2680
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009 + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02025
- skos:altLabel - "TSH-secreting pituitary adenoma" - @en + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/254
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019611http://purl.obolibrary.org/obo/MONDO_0009694
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡" + "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200378 +
http://nanbyodata.jp/ontology/NANDO_1200359 (rdf:type owl:Class @@ -30164,84 +36141,79 @@

hasNotificationNumber74
- dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200378NANDO:1200359
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/074-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Diencephalo-hypophysial Insufficiency-Inappropriate Prolactin Syndrome" + "Mendelian susceptibility to mycobacterial disease" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡" + "ใ‚ใ‚“ใงใ‚‹ใ„ใงใ‚“ใŒใŸใพใ„ใ“ใฐใใฆใ‚Šใ‚ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3735http://nanbyodata.jp/ontology/NANDO_2200759
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157677.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4045https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "Prolactin secreting pituitary adenoma" + "MSMD" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010911
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡" + "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200379 +
http://nanbyodata.jp/ontology/NANDO_1200360 (rdf:type owl:Class @@ -30249,94 +36221,84 @@

hasNotificationNumber75
- dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200379NANDO:1200360
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/075-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Cushing's Disease" + "Anhidrotic ectodermal dysplasia with immunodeficiency" @en
rdfs:label - "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" + "ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2030http://nanbyodata.jp/ontology/NANDO_2200761
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157685.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/78https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1200320
skos:altLabel - "Cushing disease" + "EDA-ID" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003009
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009050
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018912http://purl.obolibrary.org/obo/MONDO_0010293
skos:prefLabel - "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" + "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200380 +
http://nanbyodata.jp/ontology/NANDO_1200361 (rdf:type owl:Class @@ -30344,74 +36306,82 @@

hasNotificationNumber76
- dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier1200380NANDO:1200361
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Diencephalo-hypophysial dysfunction-Syndrome of abnormal secretion of Gonadotropin" + "IRAK4 deficiency" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" + "IRAK4ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใ‚‰ใฃใ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docxhttp://nanbyodata.jp/ontology/NANDO_2200762
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4636
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4070https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1200320
- skos:altLabel - "Pituitary gonadotropin secretion hyperthyroidism" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011888
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" + "IRAK4ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200381 +
http://nanbyodata.jp/ontology/NANDO_1200362 (rdf:type owl:Class @@ -30419,77 +36389,82 @@

hasNotificationNumber76hasNotificationNumber65
dcterms:identifier1200381NANDO:1200362
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "Central precocious puberty" + "MyD88 deficiency" @en
rdfs:label - "ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" + "MyD88ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใฟใฃใฉ88 / ใพใ„ใงใƒใƒผ88ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02018http://nanbyodata.jp/ontology/NANDO_2200763
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7095
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4070https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200380
- skos:altLabel - "ไธญๆžขๆ€งๆ€งๆ—ฉ็†Ÿ็—‡" - @jahttp://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019165http://purl.obolibrary.org/obo/MONDO_0012839
skos:prefLabel - "ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" + "MyD88ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200382 +
http://nanbyodata.jp/ontology/NANDO_1200363 (rdf:type owl:Class @@ -30497,70 +36472,89 @@

hasNotificationNumber76hasNotificationNumber65
dcterms:identifier1200382NANDO:1200363
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "idiopathic hypogonadotropic hypogonadism" + "Chronic mucocutaneous candidiasis" @en
rdfs:label - "็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใพใ‚“ใ›ใ„ใฒใตใญใ‚“ใพใใ‹ใ‚“ใ˜ใ ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=787http://nanbyodata.jp/ontology/NANDO_2200764
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01109
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4070https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200380http://nanbyodata.jp/ontology/NANDO_1200320
+ skos:altLabel + "CMC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007794http://purl.obolibrary.org/obo/MONDO_0015279
skos:prefLabel - "็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200383 +
http://nanbyodata.jp/ontology/NANDO_1200364 (rdf:type owl:Class @@ -30568,65 +36562,77 @@

hasNotificationNumber76hasNotificationNumber65
dcterms:identifier1200383NANDO:1200364
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "congenital hypogonadotropic hypogonadism" + "Inherited deficiency of complement system" @en
rdfs:label - "ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docxhttp://nanbyodata.jp/ontology/NANDO_2200776
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4070https://www.nanbyou.or.jp/entry/254
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200380http://nanbyodata.jp/ontology/NANDO_1200320
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015770http://purl.obolibrary.org/obo/MONDO_0003832
skos:prefLabel - "ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - - - - - - - - + - -
http://nanbyodata.jp/ontology/nando#1200384 +
http://nanbyodata.jp/ontology/NANDO_1200365 (rdf:type owl:Class @@ -30634,121 +36640,101 @@

hasNotificationNumber76hasNotificationNumber65
dcterms:identifier1200384NANDO:1200365
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/065-201704-kojin.pdf
rdfs:label - "acquired hypogonadotropic hypogonadism" + "Hereditary angioedema" @en
rdfs:label - "็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ‹ใ‚“ใ›ใ„ใตใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docxhttp://nanbyodata.jp/ontology/NANDO_2200795
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4070
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200380
- skos:prefLabel - "็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" - @jahttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01006
- - - - - + + - - + + - - + + - + - + - - - - - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200385 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber76 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157976.docx
- dcterms:identifier1200385 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/254
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdf + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200320
- rdfs:label + skos:altLabel - "GH secreting pituitary adenoma" + "C1 inhibitor deficiency" @en
- rdfs:label + skos:altLabel - "ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜" + "C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4070 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007361
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200380 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019623
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜" + "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200386 +
http://nanbyodata.jp/ontology/NANDO_1200366 (rdf:type owl:Class @@ -30756,84 +36742,84 @@

hasNotificationNumber77hasNotificationNumber66
dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกใ€็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใจๅŸบ่ณชใฎๅข—ๆฎ–ๆ€งๅค‰ๅŒ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎIgAใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆฒˆ็€็‰ฉใจใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚ๅŒ็พฉ่ชžใจใ—ใฆIgA่…Ž็‚Žใ€ใƒใƒผใ‚ธใƒฃใƒผ๏ผˆBuerger๏ผ‰็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎไธ€็—…ๅž‹ใจใ—ใฆ็ขบ็ซ‹ใ—ใฆใ„ใ‚‹ใŒใ€ๆ—ฅๆœฌใซใŠใ„ใฆใฏ1970ๅนดไปฃๅˆๆœŸใ‹ใ‚‰ๆดป็™บใช็ ”็ฉถใŒ่กŒใ‚ใ‚Œใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกๆˆไบบใงใฏ30๏ผ…ไปฅไธŠใ€ๅฐๅ…ใงใ‚‚20๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๆ—ฅๆœฌใจๅŒใ˜ใ‚ˆใ†ใซๆœฌ็—‡ใŒๅคš็™บใ™ใ‚‹ๅ›ฝใจใ—ใฆใฏใ€ใ‚ขใ‚ธใ‚ขๅคชๅนณๆด‹ๅœฐๅŸŸใฎ่ซธๅ›ฝใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅŒ—ๆฌงใ‚„ๅŒ—็ฑณใงใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชๅœฐๅŸŸๅทฎใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚Šใ€ไธ€้ƒจใงใฏ่…Ž็”Ÿๆคœๆ–ฝ่กŒใฎ้ ปๅบฆใจๆฏ”ไพ‹ใ™ใ‚‹ใจใ‚‚ใ„ใ‚ใ‚Œใ€ๅŒ—็ฑณใซใŠใ„ใฆใฏ็™ฝไบบใซใฏๅคšใ„ใŒใ€้ป’ไบบใงใฏใพใ‚Œใงใ‚ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€ไฝ•ใ‚‰ใ‹ใฎไบบ็จฎ็š„ใƒป้บไผ็š„่ƒŒๆ™ฏใ‚‚ๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบใƒปๅฐๅ…ๅ…ฑใซ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ่ฆ‹ๆ™‚ใฎๅนด้ฝขใฏๆˆไบบใงใฏ20ๆญณไปฃใ€ๅฐๅ…ใงใฏ10ๆญณไปฃใŒๅคšใ„ใŒใ€ๆ‚ฃ่€…ๅฑคใฏๅ…จใฆใฎๅนด้ฝขใซใ‚ใŸใฃใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200386NANDO:1200366
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/077-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/066-201704-kojin.pdf
rdfs:label - "Diencephalo-hypophysial dysfunction-Syndrome of abnormal secretion of Growth hormone" + "IgA nephropathy" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" + "Ig๏ผก่…Ž็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใ˜ใƒผใˆใƒผใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01864http://nanbyodata.jp/ontology/NANDO_2200121
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157675.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198061.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3922https://www.nanbyou.or.jp/entry/203
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009
- skos:altLabel - "Growth hormone secreting pituitary adenoma" - @enhttp://nanbyodata.jp/ontology/NANDO_1100007
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006238http://purl.obolibrary.org/obo/MONDO_0005342
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" + "Ig๏ผก่…Ž็—‡" @ja
- - + - - + + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200387 +
http://nanbyodata.jp/ontology/NANDO_1200367 (rdf:type owl:Class @@ -30841,79 +36827,98 @@

hasNotificationNumber78hasNotificationNumber67
dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + "ไธกๅดใฎ่…Ž่‡“ใซๅšข่ƒžใŒ็„กๆ•ฐใซ็”Ÿใ˜ใ‚‹ใ€้บไผๆ€ง็–พๆ‚ฃใ€‚ๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆPolycystic Kidney๏ผ‰ใซใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Dominant Polycystic Kidney Disease๏ผšADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Recessive Polycystic Kidney Disease๏ผšARPKD๏ผ‰ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200387NANDO:1200367
rdfs:label - "Hypopituitarism Syndrome" + "Polycystic kidney disease" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01700http://nanbyodata.jp/ontology/NANDO_2200152
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00542
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198063.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/295
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1100007
skos:altLabel - "Hypopituitarism" + "PKD" + @en
+ skos:altLabel + "Polycystic kidney" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005152http://purl.obolibrary.org/obo/MONDO_0020642
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200388 +
http://nanbyodata.jp/ontology/NANDO_1200368 (rdf:type owl:Class @@ -30921,70 +36926,91 @@

hasNotificationNumber78hasNotificationNumber67
dcterms:identifier1200388NANDO:1200368
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/067-01-201704-kojin.pdf
rdfs:label - "hypogonadotropic hypogonadism" + "Autosomal dominant polycystic kidney disease" @en
rdfs:label - "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docxhttp://nanbyodata.jp/ontology/NANDO_2200153
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198063.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/295
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200387http://nanbyodata.jp/ontology/NANDO_1200367
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006823 + skos:altLabel + "ADPKD" + @en
+ skos:altLabel + "Autosomal dominant PKD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018555http://purl.obolibrary.org/obo/MONDO_0004691
skos:prefLabel - "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + "ARPKD" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200389 +
http://nanbyodata.jp/ontology/NANDO_1200369 (rdf:type owl:Class @@ -30992,67 +37018,84 @@

hasNotificationNumber78hasNotificationNumber67
dcterms:identifier1200389NANDO:1200369
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/067-02-201704-kojin.pdf
rdfs:label - "Syndrome of abnormal secretion of adrenocorticotropic hormone" + "Autosomal recessive polycystic kidney disease" @en
rdfs:label - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docxhttp://nanbyodata.jp/ontology/NANDO_2200154
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198063.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/295
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200387http://nanbyodata.jp/ontology/NANDO_1200367
skos:altLabel - "ACTHๅˆ†ๆณŒไฝŽไธ‹็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009889
skos:prefLabel - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + "OLF" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200390 +
http://nanbyodata.jp/ontology/NANDO_1200370 (rdf:type owl:Class @@ -31060,67 +37103,88 @@

hasNotificationNumber78hasNotificationNumber68
+ dcterms:description + "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡๏ผˆthe ossification of the ligamentum flavum๏ผšOLF๏ผ‰ใฏใ€้ป„่‰ฒ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€่ƒธ่…ฐ็งป่กŒ้ƒจใซๅคšใ„ใŒใ€ๅ…จ่„ŠๆŸฑใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่จบๆ–ญใซใฏๅ˜็ด”ใƒฌใƒณใƒˆใ‚ฒใƒณๅ†™็œŸใ€ๆ–ญๅฑคๅ†™็œŸใ‚ใ‚‹ใ„ใฏMRIใ€CTใŒๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคšๆคŽ้–“็ฝนๆ‚ฃไพ‹ใฏ็ด„35๏ผ…ใงใ‚ใ‚‹ใ€‚้ ธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใ€ใ‚ใ‚‹ใ„ใฏ่ƒธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใจๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€่„ŠๆŸฑ็ฎกๅ†…้ฑๅธฏ้ชจๅŒ–ใฎไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200390NANDO:1200370
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/068-201704-kojin.pdf
rdfs:label - "Syndrome of abnormal secretion of thyroid-stimulating hormone" + "Ossification of ligamentum flavum" @en
rdfs:label - "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใŠใ†ใ—ใ‚‡ใใ˜ใ‚“ใŸใ„ใ“ใฃใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157671.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017https://www.nanbyou.or.jp/entry/220
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200387http://nanbyodata.jp/ontology/NANDO_1100008
skos:altLabel - "TSHๅˆ†ๆณŒไฝŽไธ‹็—‡" - @ja
+ skos:altLabel + "Ossification of the ligamentum flavum" + @en
skos:prefLabel - "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡" @ja
- - + - - + + + + + + - + - + + "Ossification of posterior longitudinal ligament" + @en + "ใ“ใ†ใ˜ใ‚…ใ†ใ˜ใ‚“ใŸใ„ใ“ใฃใ‹ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200391 +
http://nanbyodata.jp/ontology/NANDO_1200371 (rdf:type owl:Class @@ -31128,67 +37192,105 @@

hasNotificationNumber78hasNotificationNumber69
+ dcterms:description + "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใฏใ€่„ŠๆคŽๆคŽไฝ“ใฎๅพŒ็ธใ‚’้€ฃ็ตใ—ใ€่„ŠๆŸฑใฎใปใผๅ…จ้•ทใ‚’็ธฆ่ตฐใ™ใ‚‹ๅพŒ็ธฆ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ŠๆคŽ็ฎก็‹ญ็ช„ใ‚’ๆฅใ—ใ€่„Š้ซ„ๅˆใฏ็ฅž็ตŒๆ นใฎๅœง่ฟซ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ธๆคŽใซๆœ€ใ‚‚ๅคšใ„ใŒใ€่ƒธๆคŽใ‚„่…ฐๆคŽใซใ‚‚็”Ÿใ˜ใ‚‹ใ€‚ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ๆ‚ฃ่€…ใงใฏใ€ๅ‰็ธฆ้ฑๅธฏ้ชจๅŒ–ใ‚’ไธญๅฟƒใจใ—ใฆใ€ๅบƒๆฑŽใซ่„ŠๆŸฑ้ฑๅธฏ้ชจๅŒ–ใ‚’ๆฅใ™ๅผท็›ดๆ€ง่„ŠๆคŽ้ชจๅข—ๆฎ–็—‡ใ‚’็ด„40๏ผ…ใซๅˆไฝตใ—ใ€ใพใŸ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–ใ‚„ๆฃ˜ไธŠ้ฑๅธฏ้ชจๅŒ–ใฎๅˆไฝตใ‚‚ๅคšใใ€่„ŠๆคŽ้ฑๅธฏ้ชจๅŒ–ใฎไธ€้ƒจๅˆ†็—‡ใจใ—ใฆๆ‰ใˆใ‚‹่€ƒใˆใ‚‚ใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200391NANDO:1200371
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/069-201704-kojin.pdf
rdfs:label - "GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰" - @ja
rdfs:label - "Growth hormone secretion deficiency of dwarfism" - @en
+ rdfs:label + "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4051
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157699.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/257
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200387http://nanbyodata.jp/ontology/NANDO_1100008
skos:altLabel - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๅฐๅ…๏ผ‰" + "OPLL" + @en
+ skos:altLabel + "OPLL" @ja
+ skos:altLabel + "Ossification of the posterior longitudinal ligament" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011230
skos:prefLabel - "GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰" + "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200392 +
http://nanbyodata.jp/ontology/NANDO_1200372 (rdf:type owl:Class @@ -31196,67 +37298,79 @@

hasNotificationNumber78hasNotificationNumber70
+ dcterms:description + "้ ธใ€่ƒธใ€่…ฐๆคŽ้ƒจใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹่„ŠๆŸฑ็ฎก็‹ญๅฐใซใ‚ˆใ‚Šใ€่„Š้ซ„ใ€้ฆฌๅฐพ็ฅž็ตŒๅˆใฏ็ฅž็ตŒๆ นใฎ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚" + @ja
dcterms:identifier1200392NANDO:1200372
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/070-201704-kojin.pdf
rdfs:label - "Adult growth hormone deficiency" + "Coexisting cervical and lumbar spinal stenosis" @en
rdfs:label - "ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡" + "ใ“ใ†ใฏใ‚“ใ›ใใกใ‚…ใ†ใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198064.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017https://www.nanbyou.or.jp/entry/260
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200387http://nanbyodata.jp/ontology/NANDO_1100008
- skos:altLabel - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๆˆไบบ๏ผ‰" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005965
skos:prefLabel - "ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡" + "ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + "ION" + @en + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200393 +
http://nanbyodata.jp/ontology/NANDO_1200373 (rdf:type owl:Class @@ -31264,67 +37378,93 @@

hasNotificationNumber78hasNotificationNumber71
+ dcterms:description + "ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฏใ€ๅคง่…ฟ้ชจ้ ญใŒ้˜ป่ก€ๆ€งๅฃŠๆญปใซ้™ฅใฃใฆๅœงๆฝฐใ—ใ€่‚ก้–ข็ฏ€ๆฉŸ่ƒฝใŒๅคฑใ‚ใ‚Œใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎใ†ใกใ€ ่„ฑ่‡ผใ‚„้ชจๆŠ˜ใชใฉใฎ้˜ป่ก€ๅŽŸๅ› ใŒๆ˜Žใ‚‰ใ‹ใงใ‚ใ‚‹ๅ ดๅˆไปฅๅค–ใŒ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎๆฒป็™‚ใฏ้•ทๆœŸ้–“ใซๅŠใถใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅŒป็™‚็ตŒๆธˆๅญฆ็š„ใซๅ•้กŒใŒๅคงใใ„ใ€‚ใพใŸใ€้’ใƒปๅฃฎๅนดๆœŸใซๅฅฝ็™บใ—ใฆๅŠดๅƒ่ƒฝๅŠ›ใ‚’่‘—ใ—ใไฝŽไธ‹ใ•ใ›ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅŠดๅƒ็ตŒๆธˆๅญฆ็š„ใซใ‚‚ๅคงใใชๆๅคฑใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎQOLใซๅคงใใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใซ้ฉๅˆ‡ใช่จบๆ–ญใ‚’่กŒใ„ใ€้ฉๅˆ‡ใชๆฒป็™‚ใธใจ็ตใณใคใ‘ใฆใ„ใๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200393NANDO:1200373
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/071-201704-kojin.pdf
rdfs:label - "Syndrome of abnormal secretion of Prolactin" + "Idiopathic osteonecrosis of femoral head" @en
rdfs:label - "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใจใใฏใคใ›ใ„ใ ใ„ใŸใ„ใ“ใคใจใ†ใˆใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157748.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017https://www.nanbyou.or.jp/entry/306
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200387http://nanbyodata.jp/ontology/NANDO_1100008
skos:altLabel - "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" - @ja
+ skos:altLabel + "Idiopathic osteonecrosis of the femoral head" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012126
skos:prefLabel - "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡" @ja
- - + - - + + - + - - + + + "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใˆใƒผใงใƒใƒผใˆใ„ใกใถใ‚“ใดใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200394 +
http://nanbyodata.jp/ontology/NANDO_1200374 (rdf:type owl:Class @@ -31332,79 +37472,76 @@

hasNotificationNumber79hasNotificationNumber72
dcterms:description - "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆfamilial hypercholesterolaemia๏ผšFH๏ผ‰ใฏใ€LDLๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ˜ไธ€้บไผๅญ็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ๆ‚ฃ่€…ใฏ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎ้ ปๅบฆใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚FHใฏ้ซ˜LDL-ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใ€่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็กฌๅŒ–็—‡ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใจใƒ›ใƒขๆŽฅๅˆไฝ“ใฏใ€ๅ‡บ็พใ™ใ‚‹็—‡็Šถใ‚„็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅ€คใฎ็จ‹ๅบฆใ€ๆฒป็™‚ใธใฎๅๅฟœๆ€งใŒๅ…จใ็•ฐใชใ‚Šใ€ใใฎ็ฎก็†ใซใŠใ„ใฆใ‚‚ๅ…จใๅˆฅใฎๅ–ใ‚Šๆ‰ฑใ„ใ‚’ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" @ja
dcterms:identifier1200394NANDO:1200374
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/079-201704-kojin.pdf + rdfs:label + "Diencephalo-hypophysial insufficiency-inappropriate ADH syndrome" + @en
rdfs:label - "Familial Hypercholesterolemia ๏ผˆHomozygote ๏ผ‰" - @en
rdfs:label - "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰" + "ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157679.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157673.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/65https://www.nanbyou.or.jp/entry/3989
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100009
skos:altLabel - "Homozygous familial hypercholesterolemia" + "Pituitary ADH secretion disorders" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018328
skos:prefLabel - "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰" + "ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - + + "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + @ja - - + +
http://nanbyodata.jp/ontology/nando#1200395 +
http://nanbyodata.jp/ontology/NANDO_1200375 (rdf:type owl:Class @@ -31412,81 +37549,84 @@

hasNotificationNumber80
- dcterms:description - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡๏ผˆSyndrome of Resistance to Thyroid Hormone๏ผšRTH๏ผ‰ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967ๅนดใ€Refetoffใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚RTHใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“๏ผˆTR๏ผ‰ใ‚’ไป‹ใ—ใŸไฝœ็”จใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑๅž‹TR๏ผˆTRฮฑ๏ผ‰ใจTRฮฒใฎ๏ผ’ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85๏ผ…ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒใฎ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆฎ‹ใ‚Šใฎ็ด„15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใŒใ€TRฮฒ้บไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใงTRฮฒใฎๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนดTRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒใฎๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸใ€‚" - @jahasNotificationNumber72
dcterms:identifier1200395NANDO:1200375
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/080-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/072-01-201704-kojin.pdf
rdfs:label - "Syndrome of Resistance to Thyroid Hormone" + "Central diabetes insipidus" @en
rdfs:label - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157700.docxhttp://nanbyodata.jp/ontology/NANDO_2200324
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157673.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/99https://www.nanbyou.or.jp/entry/3989
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1200374
skos:altLabel - "Resistance to thyroid hormone" - @en
- skos:altLabel - "Thyroid hormone insensitivity syndrome" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015790
skos:prefLabel - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + + + + + + + + + - + + "ADHๅˆ†ๆณŒไบข้€ฒ็—‡" + @ja - - + + - +
http://nanbyodata.jp/ontology/nando#1200396 +
http://nanbyodata.jp/ontology/NANDO_1200376 (rdf:type owl:Class @@ -31494,86 +37634,103 @@

hasNotificationNumber81
- dcterms:description - "ๅ‰ฏ่…Ž็šฎ่ณชใงใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žๆ€งใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใŒ็”ฃ็”Ÿใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใฏใ€ใ“ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใ‚’ไฝœใ‚‹้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใง่ตทใ“ใ‚‹็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒไฝœใ‚‰ใ‚Œใ‚‹้Ž็จ‹ใซใฏไบ”ใคใฎใƒใƒˆใ‚ฏใƒญใƒผใƒ ้…ต็ด ๏ผˆP450๏ผ‰ใจ3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผใฎๅ…ญใคใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใจใ—ใฆๅ…ญใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ“ใจใซใชใ‚‹ใ€‚ใ“ใฎใ†ใกใ€็‰นใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Šใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTH๏ผˆๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผ‰ใŒ้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹็ตๆžœๅ‰ฏ่…ŽใŒ้Žๅฝขๆˆใ‚’ๆฅใ™ใ‚‚ใฎใ‚’ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใจๅ‘ผใถใ€‚ใ“ใ‚Œใซใฏใ€ใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ใ€21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผ๏ผˆ3ฮฒ-HSD๏ผ‰ๆฌ ๆ็—‡ใฎไบ”ใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใ€้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใŒใงใใชใ„ใ‚‚ใฎใงใ€้Žๅ‰ฐใชACTHๅˆ†ๆณŒ้Žๅ‰ฐใ‚’ๆฅใ•ใชใ„ใ‚‚ใฎใจใ—ใฆ18-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚้…็™บๅž‹ใ‚’็คบใ™ใ‚‚ใฎใฏ21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใงใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ›ดใซๆœ€่ฟ‘ใงใฏใ€21ๆฐด้…ธๅŒ–้…ต็ด ใ€17ฮฑๆฐด้…ธๅŒ–้…ต็ด ๆดปๆ€งใŒใจใ‚‚ใซไฝŽไธ‹ใ—ใ€้ชจๅฅ‡ๅฝขใ‚’ไผดใ†้…ต็ด ๆฌ ๆ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผˆP450 ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€‚" - @jahasNotificationNumber72
dcterms:identifier1200396NANDO:1200376
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/072-02-201704-kojin.pdf
rdfs:label - "Congenital Adrenal Enzyme Deficiency" + "Syndrome of inappropriate secretion of antidiuretic hormone" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡" + "ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docxhttp://nanbyodata.jp/ontology/NANDO_2200323
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/185https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01682
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157673.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3989
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1200374
skos:altLabel - "Congenial adrenal cortex enzyme deficiency" - @en
skos:altLabel - "Congenital adrenal hyperplasia" + "SIADH" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015898 + skos:altLabel + "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018479http://purl.obolibrary.org/obo/MONDO_0006802
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡" + "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200397 +
http://nanbyodata.jp/ontology/NANDO_1200377 (rdf:type owl:Class @@ -31581,65 +37738,86 @@

hasNotificationNumber81hasNotificationNumber73
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200397NANDO:1200377
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/073-201704-kojin.pdf
rdfs:label - "Congenital Lipoid Adrenal Hyperplasia" + "Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡" + "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใฆใƒใƒผใˆใ™ใˆใ„ใกใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157676.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/185https://www.nanbyou.or.jp/entry/225
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200396http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "TSH-secreting pituitary adenoma" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018479http://purl.obolibrary.org/obo/MONDO_0019611
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡" + "ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + "PRL-secreting pituitary adenoma" + @en + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200398 +
http://nanbyodata.jp/ontology/NANDO_1200378 (rdf:type owl:Class @@ -31647,67 +37825,98 @@

hasNotificationNumber81hasNotificationNumber74
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200398NANDO:1200378
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/074-201704-kojin.pdf
rdfs:label - "3ฮฒ-Hydroxysteroid Dehydrogenase Deficiency" + "Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome" @en
rdfs:label - "3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใดใƒผใ‚ใƒผใ‚‹ใˆใ‚‹ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3735
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/185https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157677.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4046
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200396http://nanbyodata.jp/ontology/NANDO_1100009
skos:altLabel - "๏ผ“ฮฒ-HSDๆฌ ๆ็—‡" - @ja
+ skos:altLabel + "Prolactin secreting pituitary adenoma" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010911
skos:prefLabel - "3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200399 +
http://nanbyodata.jp/ontology/NANDO_1200379 (rdf:type owl:Class @@ -31715,70 +37924,98 @@

hasNotificationNumber81hasNotificationNumber75
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200399NANDO:1200379
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/075-201704-kojin.pdf
rdfs:label - "21-Hydroxylase deficiency" + "Cushing disease" @en
rdfs:label - "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใใฃใ—ใ‚“ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1700http://nanbyodata.jp/ontology/NANDO_2200350
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157685.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/185https://www.nanbyou.or.jp/entry/238
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200396http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "Cushing's Disease" + @en
+ skos:altLabel + "Cushing็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008728http://purl.obolibrary.org/obo/MONDO_0018912
skos:prefLabel - "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200400 +
http://nanbyodata.jp/ontology/NANDO_1200380 (rdf:type owl:Class @@ -31786,60 +38023,81 @@

hasNotificationNumber81hasNotificationNumber76
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200400NANDO:1200380
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdf
rdfs:label - "11ฮฒ-Hydroxylase deficiency" + "Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of gonadotropin" @en
rdfs:label - "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/185https://www.nanbyou.or.jp/entry/4071
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200396http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "Pituitary gonadotropin secretion hyperthyroidism" + @en
skos:prefLabel - "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200401 +
http://nanbyodata.jp/ontology/NANDO_1200381 (rdf:type owl:Class @@ -31847,60 +38105,84 @@

hasNotificationNumber81hasNotificationNumber76
dcterms:identifier1200401NANDO:1200381
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdf
rdfs:label - "17ฮฑ-Hydroxylase deficiency" + "Central precocious puberty" @en
rdfs:label - "17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02018
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/185https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4071
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200396http://nanbyodata.jp/ontology/NANDO_1200380
+ skos:altLabel + "ไธญๆžขๆ€งๆ€งๆ—ฉ็†Ÿ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019165
skos:prefLabel - "17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200402 +
http://nanbyodata.jp/ontology/NANDO_1200382 (rdf:type owl:Class @@ -31908,67 +38190,77 @@

hasNotificationNumber81hasNotificationNumber76
dcterms:identifier1200402NANDO:1200382
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdf
rdfs:label - "P450 Oxidoreductase deficiency" + "Idiopathic hypogonadotropic hypogonadism" @en
rdfs:label - "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "ใจใใฏใคใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=787
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/185https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4071
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200396http://nanbyodata.jp/ontology/NANDO_1200380
- skos:altLabel - "PORๆฌ ๆ็—‡" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007794
skos:prefLabel - "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- - + - - - - - - + + - + - + - - - - + "ใ‹ใžใใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200403 +
http://nanbyodata.jp/ontology/NANDO_1200383 (rdf:type owl:Class @@ -31976,94 +38268,72 @@

hasNotificationNumber82
- dcterms:description - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ใฏใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber76
dcterms:identifier1200403NANDO:1200383
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdf
rdfs:label - "Congenital adrenal hypoplasia" + "Congenital hypogonadotropic hypogonadism" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3254
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01772 + rdfs:label + "ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.nanbyou.or.jp/entry/4071
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009
- skos:altLabel - "X-linked congenital adrenal hypoplasia" - @enhttp://nanbyodata.jp/ontology/NANDO_1200380
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010264
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016241http://purl.obolibrary.org/obo/MONDO_0015770
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" + "ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + "Acquired hypogonadotropic hypogonadism" + @en + "ใžใใฏใคใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200404 +
http://nanbyodata.jp/ontology/NANDO_1200384 (rdf:type owl:Class @@ -32071,60 +38341,67 @@

hasNotificationNumber82hasNotificationNumber76
dcterms:identifier1200404NANDO:1200384
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdf
rdfs:label - "DAX-1็•ฐๅธธ็—‡" - @ja
rdfs:label - "DAX1 abnormality" - @en
+ rdfs:label + "็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.nanbyou.or.jp/entry/4071
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200403http://nanbyodata.jp/ontology/NANDO_1200380
skos:prefLabel - "DAX-1็•ฐๅธธ็—‡" + "็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + "GH secreting pituitary adenoma" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200405 +
http://nanbyodata.jp/ontology/NANDO_1200385 (rdf:type owl:Class @@ -32132,67 +38409,79 @@

hasNotificationNumber82hasNotificationNumber76
dcterms:identifier1200405NANDO:1200385
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/076-201704-kojin.pdf
rdfs:label - "SF-1 abnormality" + "Growth hormone secreting pituitary adenoma" @en
rdfs:label - "SF-1็•ฐๅธธ็—‡" + "ใ‹ใ™ใ„ใŸใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157674.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.nanbyou.or.jp/entry/4071
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200403http://nanbyodata.jp/ontology/NANDO_1200380
skos:altLabel - "SF-1/Ad4BP็•ฐๅธธ็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006238
skos:prefLabel - "SF-1็•ฐๅธธ็—‡" + "ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200406 +
http://nanbyodata.jp/ontology/NANDO_1200386 (rdf:type owl:Class @@ -32200,70 +38489,91 @@

hasNotificationNumber82hasNotificationNumber77
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200406NANDO:1200386
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/077-201704-kojin.pdf
rdfs:label - "IMAGe syndrome" + "Diencephalo-hypophysial dysfunction-sndrome of abnormal secretion of growth hormone" @en
rdfs:label - "IMAge็—‡ๅ€™็พค" + "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3282https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01864
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157675.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.nanbyou.or.jp/entry/3923
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200403http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "Growth hormone secreting pituitary adenoma" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013873http://purl.obolibrary.org/obo/MONDO_0006238
skos:prefLabel - "IMAge็—‡ๅ€™็พค" + "ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡" @ja
- - + - - + + + + + + - + - - + + + "ใ‹ใ™ใ„ใŸใ„ใœใ‚“ใ‚ˆใ†ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200407 +
http://nanbyodata.jp/ontology/NANDO_1200387 (rdf:type owl:Class @@ -32271,60 +38581,86 @@

hasNotificationNumber82hasNotificationNumber78
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200407NANDO:1200387
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf + rdfs:label + "Hypopituitarism syndrome" + @en
rdfs:label - "ACTH unresponsiveness" - @en
rdfs:label - "ACTHไธๅฟœ็—‡" + "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01700
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4018
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200403http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "Hypopituitarism" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005152
skos:prefLabel - "ACTHไธๅฟœ็—‡" + "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200408 +
http://nanbyodata.jp/ontology/NANDO_1200388 (rdf:type owl:Class @@ -32332,60 +38668,89 @@

hasNotificationNumber82hasNotificationNumber78
dcterms:identifier1200408NANDO:1200388
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-01-201704-kojin.pdf
rdfs:label - "MC2R deficiency" + "Hypogonadotropic hypogonadism" @en
rdfs:label - "MC2R็•ฐๅธธ็—‡" + "ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttp://nanbyodata.jp/ontology/NANDO_2200382
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00255
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4017
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200407http://nanbyodata.jp/ontology/NANDO_1200387
+ skos:altLabel + "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018555
skos:prefLabel - "MC2R็•ฐๅธธ็—‡" + "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200409 +
http://nanbyodata.jp/ontology/NANDO_1200389 (rdf:type owl:Class @@ -32393,60 +38758,81 @@

hasNotificationNumber82hasNotificationNumber78
dcterms:identifier1200409NANDO:1200389
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-02-201704-kojin.pdf
rdfs:label - "MRAP deficiency" + "Syndrome of abnormal secretion of adrenocorticotropic hormone" @en
rdfs:label - "MRAP็•ฐๅธธ็—‡" + "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.nanbyou.or.jp/entry/4018
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200407http://nanbyodata.jp/ontology/NANDO_1200387
+ skos:altLabel + "ACTHๅˆ†ๆณŒไฝŽไธ‹็—‡" + @ja
+ skos:altLabel + "Adrenocorticotropic hormone deficiency" + @en
skos:prefLabel - "MRAP็•ฐๅธธ็—‡" + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200410 +
http://nanbyodata.jp/ontology/NANDO_1200390 (rdf:type owl:Class @@ -32454,84 +38840,84 @@

hasNotificationNumber82hasNotificationNumber78
dcterms:identifier1200410NANDO:1200390
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-03-201704-kojin.pdf
rdfs:label - "Allgrove Syndrome" + "Thyroid-stimulating hormone deficiency" @en
rdfs:label - "Allgrove็—‡ๅ€™็พค" + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2267http://nanbyodata.jp/ontology/NANDO_2200332
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3852https://www.nanbyou.or.jp/entry/4018
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200403
- skos:altLabel - "Triple A syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_1200387
skos:altLabel - "TripleA็—‡ๅ€™็พค" + "TSHๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009279http://purl.obolibrary.org/obo/MONDO_0016410
skos:prefLabel - "Allgrove็—‡ๅ€™็พค" + "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- - + - - - - - - + + - + - + + "GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰" + @ja - - - - + "Growth hormone secretion deficiency of dwarfism" + @en - - + + - + - + - + - - - - - - - - + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๅฐๅ…๏ผ‰" + @ja
http://nanbyodata.jp/ontology/nando#1200411 +
http://nanbyodata.jp/ontology/NANDO_1200391 (rdf:type owl:Class @@ -32539,101 +38925,81 @@

hasNotificationNumber83
- dcterms:description - "ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏใ€1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ‚ขใ‚ธใ‚ฝใƒณ๏ผˆAddison๏ผ‰็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œใ€่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber78
dcterms:identifier1200411NANDO:1200391
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-04-201704-kojin.pdf
rdfs:label - "Addison's Disease" - @en
rdfs:label - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01598 + rdfs:label + "ใ˜ใƒผใˆใ„ใกใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ‚‡ใ†ใซ๏ผ‰" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/44https://www.nanbyou.or.jp/entry/4018
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1200387
skos:altLabel - "Addison disease" + "Growth hormone deficiency" @en
skos:altLabel - "Primary chronic adrenocortical insufficiency" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015129
skos:prefLabel - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" + "GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰" @ja
- - + - - + + - + - + + "ใ›ใ„ใ˜ใ‚“ใ˜ใƒผใˆใ„ใกใถใ‚“ใดใคใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200412 +
http://nanbyodata.jp/ontology/NANDO_1200392 (rdf:type owl:Class @@ -32641,77 +39007,74 @@

hasNotificationNumber83hasNotificationNumber78
dcterms:identifier1200412NANDO:1200392
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-05-201704-kojin.pdf
rdfs:label - "Autoimmune Addison disease" + "Adult growth hormone deficiency" @en
rdfs:label - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400 + rdfs:label + "ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/44https://www.nanbyou.or.jp/entry/4018
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200411http://nanbyodata.jp/ontology/NANDO_1200387
skos:altLabel - "็‰น็™บๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…" + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๆˆไบบ๏ผ‰" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410
skos:prefLabel - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰" + "ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200413 +
http://nanbyodata.jp/ontology/NANDO_1200393 (rdf:type owl:Class @@ -32719,60 +39082,81 @@

hasNotificationNumber83hasNotificationNumber78
dcterms:identifier1200413NANDO:1200393
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/078-06-201704-kojin.pdf
rdfs:label - "Tuberculous Addison's disease" + "Syndrome of abnormal secretion of prolactin" @en
rdfs:label - "็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…" + "ใทใ‚ใ‚‰ใใกใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157678.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/44https://www.nanbyou.or.jp/entry/4018
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200411http://nanbyodata.jp/ontology/NANDO_1200387
+ skos:altLabel + "PRLๅˆ†ๆณŒไฝŽไธ‹็—‡" + @ja
+ skos:altLabel + "Prolactin deficiency" + @en
skos:prefLabel - "็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…" + "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200414 +
http://nanbyodata.jp/ontology/NANDO_1200394 (rdf:type owl:Class @@ -32780,60 +39164,105 @@

hasNotificationNumber83hasNotificationNumber79
+ dcterms:description + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆfamilial hypercholesterolaemia๏ผšFH๏ผ‰ใฏใ€LDLๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ˜ไธ€้บไผๅญ็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ๆ‚ฃ่€…ใฏ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎ้ ปๅบฆใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚FHใฏ้ซ˜LDL-ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใ€่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็กฌๅŒ–็—‡ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใจใƒ›ใƒขๆŽฅๅˆไฝ“ใฏใ€ๅ‡บ็พใ™ใ‚‹็—‡็Šถใ‚„็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅ€คใฎ็จ‹ๅบฆใ€ๆฒป็™‚ใธใฎๅๅฟœๆ€งใŒๅ…จใ็•ฐใชใ‚Šใ€ใใฎ็ฎก็†ใซใŠใ„ใฆใ‚‚ๅ…จใๅˆฅใฎๅ–ใ‚Šๆ‰ฑใ„ใ‚’ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200414NANDO:1200394
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/079-201704-kojin.pdf
rdfs:label - "Infectious Addison's diseas" + "Homozygous familial hypercholesterolemia" @en
rdfs:label - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰" + "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใปใ‚‚ใ›ใคใ”ใ†ใŸใ„" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docxhttp://nanbyodata.jp/ontology/NANDO_2201255
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157679.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/44https://www.nanbyou.or.jp/entry/226
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200411http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "FHใƒ›ใƒขๆŽฅๅˆไฝ“" + @ja
+ skos:altLabel + "Homozygous FH" + @en
+ skos:altLabel + "Homozygous familial hypercholesterolaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018328
skos:prefLabel - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰" + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200415 +
http://nanbyodata.jp/ontology/NANDO_1200395 (rdf:type owl:Class @@ -32841,82 +39270,115 @@

hasNotificationNumber84hasNotificationNumber80
dcterms:description - "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅŽŸๅ› ไธๆ˜Žใฎๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‹ฅๅนด่€…ใ‹ใ‚‰้ซ˜้ฝข่€…ใพใง็™บ็—‡ใ™ใ‚‹ใ€‚็™บ็—…ๆ™‚ใฎ่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ€ใใฎๅพŒใฎ่‡จๅบŠ็ตŒ้ŽใŒๅคšๆง˜ใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚่‚บ้–€็ธฆ้š”ใƒชใƒณใƒ‘็ฏ€ใ€่‚บใ€็œผใ€็šฎ่†šใฎ็ฝนๆ‚ฃ้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€็ฅž็ตŒใ€็ญ‹ใ€ๅฟƒ่‡“ใ€่…Ž่‡“ใ€้ชจใ€ๆถˆๅŒ–ๅ™จใชใฉๅ…จ่บซใฎใปใจใ‚“ใฉใฎ่‡“ๅ™จใง็ฝนๆ‚ฃใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏๆคœ่จบใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถใฎใ‚‚ใฎใŒๅคšใ่‡ช็„ถๆ”นๅ–„ไพ‹ใ‚‚ๅคšใ‹ใฃใŸใŒใ€่ฟ‘ๅนดใฏ่‡ช่ฆš็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ‚‚ใฎใŒๅข—ๅŠ ใ—ใฆ็ตŒ้Žใ‚‚้•ทๅผ•ใไพ‹ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ไนพ้…ชๅฃŠๆญปใ‚’ไผดใ‚ใชใ„้กžไธŠ็šฎ็ดฐ่ƒž่‚‰่Šฝ่…ซใฎ่จผๆ˜ŽใŒใ‚ใ‚Œใฐ็ต„็น”่จบๆ–ญ็พคใจใชใ‚‹ใŒใ€็ต„็น”็”Ÿๆคœใซใ‚ˆใ‚‹่จบๆ–ญใŒๅพ—ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใซใฏ่‡จๅบŠ่จบๆ–ญ็พคๅˆใฏ็–‘่จบ็พคใจใชใ‚‹ใ€‚่‚บใ€ๅฟƒ่‡“ใ€็œผใ€็ฅž็ตŒใ€่…Ž่‡“ใชใฉ็”Ÿๅ‘ฝไบˆๅพŒใƒปๆฉŸ่ƒฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใงใฏใ€ๅๅˆ†ใชๆฒป็™‚ใจ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡๏ผˆSyndrome of Resistance to Thyroid Hormone๏ผšRTH๏ผ‰ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967ๅนดใ€Refetoffใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚RTHใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“๏ผˆTR๏ผ‰ใ‚’ไป‹ใ—ใŸไฝœ็”จใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑๅž‹TR๏ผˆTRฮฑ๏ผ‰ใจTRฮฒใฎ๏ผ’ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85๏ผ…ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒใฎ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆฎ‹ใ‚Šใฎ็ด„15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใŒใ€TRฮฒ้บไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใงTRฮฒใฎๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนดTRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒใฎๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸใ€‚" @ja
dcterms:identifier1200415NANDO:1200395
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/084-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/080-201704-kojin.pdf
rdfs:label - "Sarcoidosis" + "Resistance to thyroid hormone" @en
rdfs:label - "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1380http://nanbyodata.jp/ontology/NANDO_2200341
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157708.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3114
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/110https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157700.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/258
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "RTH" + @en
+ skos:altLabel + "Syndrome of Resistance to Thyroid Hormone" + @en
+ skos:altLabel + "Thyroid hormone insensitivity syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008399http://purl.obolibrary.org/obo/MONDO_0001328
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019338http://purl.obolibrary.org/obo/MONDO_0010131
skos:prefLabel - "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น" + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
- - + - - + + - + - - + + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - - - - - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200416 +
http://nanbyodata.jp/ontology/NANDO_1200396 (rdf:type owl:Class @@ -32924,77 +39386,88 @@

hasNotificationNumber85hasNotificationNumber81
dcterms:description - "้–“่ณชๆ€ง่‚บ็‚Žใจใฏใ€่ƒธ้ƒจX็ทšๅ†™็œŸใ‚„CT็”ปๅƒใซใฆไธกๅดใณใพใ‚“ๆ€งใฎ้™ฐๅฝฑใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎใ†ใกใ€่‚บใฎ้–“่ณชใ‚’็‚Ž็—‡ใ‚„็ทš็ถญๅŒ–็—…ๅค‰ใฎๅ ดใจใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้–“่ณชๆ€ง่‚บ็‚ŽใฎๅŽŸๅ› ใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€่ทๆฅญใƒป็’ฐๅขƒๆ€งใ‚„่–ฌๅ‰คใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใชใ‚‚ใฎใ‚„ใ€่† ๅŽŸ็—…ใƒปใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎๅ…จ่บซๆ€ง็–พๆ‚ฃใซไป˜้šใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใจใ‚‚ใซใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆIIPs๏ผ‰ใฏๅŽŸๅ› ใ‚’็‰นๅฎšใ—ใˆใชใ„้–“่ณชๆ€ง่‚บ็‚Žใฎ็ท็งฐใงใ‚ใ‚Šใ€็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡๏ผˆIPF๏ผ‰ใชใฉใฎ๏ผ—็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + "ๅ‰ฏ่…Ž็šฎ่ณชใงใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žๆ€งใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใŒ็”ฃ็”Ÿใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใฏใ€ใ“ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใ‚’ไฝœใ‚‹้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใง่ตทใ“ใ‚‹็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒไฝœใ‚‰ใ‚Œใ‚‹้Ž็จ‹ใซใฏไบ”ใคใฎใƒใƒˆใ‚ฏใƒญใƒผใƒ ้…ต็ด ๏ผˆP450๏ผ‰ใจ3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผใฎๅ…ญใคใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใจใ—ใฆๅ…ญใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ“ใจใซใชใ‚‹ใ€‚ใ“ใฎใ†ใกใ€็‰นใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Šใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTH๏ผˆๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผ‰ใŒ้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹็ตๆžœๅ‰ฏ่…ŽใŒ้Žๅฝขๆˆใ‚’ๆฅใ™ใ‚‚ใฎใ‚’ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใจๅ‘ผใถใ€‚ใ“ใ‚Œใซใฏใ€ใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ใ€21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผ๏ผˆ3ฮฒ-HSD๏ผ‰ๆฌ ๆ็—‡ใฎไบ”ใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใ€้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใŒใงใใชใ„ใ‚‚ใฎใงใ€้Žๅ‰ฐใชACTHๅˆ†ๆณŒ้Žๅ‰ฐใ‚’ๆฅใ•ใชใ„ใ‚‚ใฎใจใ—ใฆ18-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚้…็™บๅž‹ใ‚’็คบใ™ใ‚‚ใฎใฏ21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใงใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ›ดใซๆœ€่ฟ‘ใงใฏใ€21ๆฐด้…ธๅŒ–้…ต็ด ใ€17ฮฑๆฐด้…ธๅŒ–้…ต็ด ๆดปๆ€งใŒใจใ‚‚ใซไฝŽไธ‹ใ—ใ€้ชจๅฅ‡ๅฝขใ‚’ไผดใ†้…ต็ด ๆฌ ๆ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผˆP450 ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€‚" @ja
dcterms:identifier1200416NANDO:1200396
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf + rdfs:label + "Congenital adrenal enzyme deficiency" + @en
rdfs:label - "Idiopathic interstitial pneumonia" - @en
rdfs:label - "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01716https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docx
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156https://www.nanbyou.or.jp/entry/185
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "Congenial adrenal cortex enzyme deficiency" + @en
+ skos:altLabel + "Congenital adrenal hyperplasia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002429http://purl.obolibrary.org/obo/MONDO_0018479
skos:prefLabel - "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใ‚Šใฝใ„ใฉใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200417 +
http://nanbyodata.jp/ontology/NANDO_1200397 (rdf:type owl:Class @@ -33002,82 +39475,84 @@

hasNotificationNumber85hasNotificationNumber81
dcterms:identifier1200417NANDO:1200397
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-01-201704-kojin.pdf
rdfs:label - "Idiopathic pulmonary fibrosis" + "Congenital lipoid adrenal hyperplasia" @en
rdfs:label - "็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1325 + rdfs:label + "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01299http://nanbyodata.jp/ontology/NANDO_2200370
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156https://www.nanbyou.or.jp/entry/1530
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200416http://nanbyodata.jp/ontology/NANDO_1200396
skos:altLabel - "IPF" + "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008345http://purl.obolibrary.org/obo/MONDO_0018479
skos:prefLabel - "็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡" + "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200418 +
http://nanbyodata.jp/ontology/NANDO_1200398 (rdf:type owl:Class @@ -33085,119 +39560,98 @@

hasNotificationNumber85hasNotificationNumber81
dcterms:identifier1200418NANDO:1200398
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-02-201704-kojin.pdf
rdfs:label - "IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200416
- - - - - - - - - - - - - - + "3-ฮฒ-Hydroxysteroid dehydrogenase deficiency" + @en + "3ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200419 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber85
- dcterms:identifier1200419
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "NSIP" + "3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:label - "nonspecific interstitial pneumonia" - @en
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1699
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/1531
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200418http://nanbyodata.jp/ontology/NANDO_1200396
skos:altLabel - "้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž " + "3-HSDๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "3-beta-Hydroxysteroid dehydrogenase deficiency" + @en
+ skos:altLabel + "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019622http://purl.obolibrary.org/obo/MONDO_0008727
skos:prefLabel - "NSIP" + "3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "21ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200420 +
http://nanbyodata.jp/ontology/NANDO_1200399 (rdf:type owl:Class @@ -33205,72 +39659,82 @@

hasNotificationNumber85hasNotificationNumber81
dcterms:identifier1200420NANDO:1200399
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-03-201704-kojin.pdf
rdfs:label - "AIP" + "21-Hydroxylase deficiency" + @en
+ rdfs:label + "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:label - "acute interstitial pneumonia" - @en
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docxhttp://nanbyodata.jp/ontology/NANDO_2200374
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1700
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200418 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docx
- skos:altLabel - "ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" - @ja + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/1532
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200396
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019203http://purl.obolibrary.org/obo/MONDO_0008728
skos:prefLabel - "AIP" + "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "11ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + + + + + - + + "11-beta-hydroxylase deficiency" + @en - +
http://nanbyodata.jp/ontology/nando#1200421 +
http://nanbyodata.jp/ontology/NANDO_1200400 (rdf:type owl:Class @@ -33278,72 +39742,89 @@

hasNotificationNumber85hasNotificationNumber81
dcterms:identifier1200421NANDO:1200400
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-04-201704-kojin.pdf
rdfs:label - "COP" + "11-ฮฒ-Hydroxylase deficiency" + @en
+ rdfs:label + "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:label - "Cryptogenic organizing pneumonia" - @en
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docxhttp://nanbyodata.jp/ontology/NANDO_2200372
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1701
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/1533
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200418http://nanbyodata.jp/ontology/NANDO_1200396
skos:altLabel - "็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015264http://purl.obolibrary.org/obo/MONDO_0008729
skos:prefLabel - "COP" + "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "17ใ‚ใ‚‹ใตใใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + - + + "17-alpha-hydroxylase deficiency" + @en - +
http://nanbyodata.jp/ontology/nando#1200422 +
http://nanbyodata.jp/ontology/NANDO_1200401 (rdf:type owl:Class @@ -33351,77 +39832,84 @@

hasNotificationNumber85hasNotificationNumber81
dcterms:identifier1200422NANDO:1200401
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-05-201704-kojin.pdf
rdfs:label - "DIP" + "17-ฮฑ-Hydroxylase deficiency" + @en
+ rdfs:label + "17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:label - "desquamative interstitial pneumonia" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2871http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1702
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156https://www.nanbyou.or.jp/entry/1534
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200418http://nanbyodata.jp/ontology/NANDO_1200396
skos:altLabel - "ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž " - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009887http://purl.obolibrary.org/obo/MONDO_0008730
skos:prefLabel - "DIP" + "17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใดใƒผ450ใ•ใ‚“ใ‹ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200423 +
http://nanbyodata.jp/ontology/NANDO_1200402 (rdf:type owl:Class @@ -33429,77 +39917,103 @@

hasNotificationNumber85hasNotificationNumber81
dcterms:identifier1200423NANDO:1200402
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/081-06-201704-kojin.pdf
rdfs:label - "RB-ILD" + "P450 oxidoreductase deficiency" + @en
+ rdfs:label + "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:label - "Respiratory bronchiolitis-associated interstitial lung disease" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2871http://nanbyodata.jp/ontology/NANDO_2200375
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7551
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157731.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/1536
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200418http://nanbyodata.jp/ontology/NANDO_1200396
skos:altLabel - "ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž" + "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "PORD" + @en
+ skos:altLabel + "PORๆฌ ๆ็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009887http://purl.obolibrary.org/obo/MONDO_0013310
skos:prefLabel - "RB-ILD" + "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + "Congenital adrenal hypoplasia" + @en + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200424 +
http://nanbyodata.jp/ontology/NANDO_1200403 (rdf:type owl:Class @@ -33507,77 +40021,106 @@

hasNotificationNumber85hasNotificationNumber82
+ dcterms:description + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ใฏใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200424NANDO:1200403
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "LIP" - @ja
rdfs:label - "Lymphoid interstitial pneumonia" - @en
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2525http://nanbyodata.jp/ontology/NANDO_2200357
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3254
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/156https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01772
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200418http://nanbyodata.jp/ontology/NANDO_1100009
skos:altLabel - "ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" + "ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009537http://purl.obolibrary.org/obo/MONDO_0010264
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016241
skos:prefLabel - "LIP" + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + "DAX-1็•ฐๅธธ็—‡" + @ja + "DAX1 abnormality" + @en - - + + - + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200425 +
http://nanbyodata.jp/ontology/NANDO_1200404 (rdf:type owl:Class @@ -33585,87 +40128,91 @@

hasNotificationNumber86
- dcterms:description - "ๆ—งๆฅใฎๅ…ธๅž‹็š„ใช๏ผˆ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰IPAH๏ผ๏ผˆ้บไผๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰HPAHใฏใ€ๆฅตใ‚ใฆใพใ‚Œใชใ€็‰นใซๅŽŸๅ› ใจๆ€ใ‚ใ‚Œใ‚‹ๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„้ซ˜ๅบฆใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš1.7ใจๅฅณๆ€งใซๅคšใใ€็™บ็—‡ๅนด้ฝขใ‚‚่‹ฅๅนดใงใ€ๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ100ไธ‡ไบบใซ๏ผ‘๏ฝž๏ผ’ไบบใจ็จ€ใช็–พๆ‚ฃใงใ€ๆฒป็™‚ไป‹ๅ…ฅใ‚’่กŒใ‚ใชใ‹ใฃใŸๅ ดๅˆใ€่จบๆ–ญใ‹ใ‚‰ใฎๅนณๅ‡็”Ÿๅญ˜ๆœŸ้–“ใŒ2.8ๅนดใจ้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใฃใŸใ€‚ใ—ใ‹ใ—ใ€ๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏๅฐๅ…ๆœŸใซใ‚‚ๅฅฝ็™บๅนด้ฝขๅธฏใŒๅญ˜ๅœจใ—ใ€ใ“ใฎๆ™‚ๆœŸใฎ็™บ็—‡ไพ‹ใงใฏๆ€งๅทฎใฏใชใ„ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใใŸใ€‚ๆœฌ็—‡ใฏใ“ใ‚Œใพใงๆฒป็™‚ๆณ•ใŒ็š†็„กใงใ‚ใฃใŸใŒใ€1990ๅนดไปฅ้™ใซๆฌกใ€…ใจๆฒป็™‚่–ฌใŒ้–‹็™บใ•ใ‚Œใ€็พๆ™‚็‚นใงใฏไฝœ็”จๆฉŸๅบใฎ็•ฐใชใ‚‹๏ผ“็จฎ้กžใฎๆฒป็™‚่–ฌใŒๅญ˜ๅœจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅ˜ๅ‰คใพใŸใฏ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Š็”Ÿๅ‘ฝไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใŸใ€‚ใ—ใ‹ใ—ใ€่–ฌๅ‰คๆŠตๆŠ—ๆ€งใฎไพ‹ใงใฏใ€้ฉๅˆ‡ใชๆ™‚ๆœŸใซ่‚บ็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier1200425NANDO:1200404
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/086-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "Pulmonary arterial hypertension" - @en
rdfs:label - "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1327 + rdfs:label + "ใ ใฃใใ™1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01621http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3214
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157754.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/171https://www.nanbyou.or.jp/entry/3852
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1200403
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015924 + skos:altLabel + "X-linked congenital adrenal hypoplasia" + @en
+ skos:altLabel + "X้€ฃ้Ž–ๆ€งๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024533http://purl.obolibrary.org/obo/MONDO_0010226
skos:prefLabel - "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + "DAX-1็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + "SF-1/Ad4BP็•ฐๅธธ็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#1200426 +
http://nanbyodata.jp/ontology/NANDO_1200405 (rdf:type owl:Class @@ -33673,84 +40220,84 @@

hasNotificationNumber87
- dcterms:description - "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผˆpulmonary veno-occlusive disease๏ผšPVOD๏ผ‰ใฏๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‚บๅ†…ใฎ้™่„ˆใŒไธปใช็—…ๅค‰้ƒจไฝใงใ‚ใ‚Šใ€่‚บ้™่„ˆใฎๅ†…่†œ่‚ฅๅŽšใ‚„็ทš็ถญๅŒ–็ญ‰ใซใ‚ˆใ‚‹้–‰ๅกžใ‚’่ชใ‚ใ‚‹ใ€‚่‚บๆฏ›็ดฐ็ฎก่…ซ็—‡๏ผˆpulmonary capillary hemangiomatosis๏ผšPCH๏ผ‰ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซ่‚บ่ƒžๅฃใฎๆฏ›็ดฐ็ฎกๅข—็”Ÿใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไธก็–พๆ‚ฃใจใ‚‚ใซ่‚บๅ†…ใฎ้™่„ˆ้–‰ๅกžใ‚’็”Ÿใ˜ใ€่‚บ้™่„ˆไธญๆžขๅดใงใ‚ใ‚‹่‚บๅ‹•่„ˆใฎ่ก€ๅœง๏ผˆ่‚บๅ‹•่„ˆๅœง๏ผ‰ใฎๆŒ็ถš็š„ใชไธŠๆ˜‡ใ‚’ๆฅใŸใ™ใ“ใจใซใชใ‚‹ใ€‚ใใฎใŸใ‚ใ€่‡จๅบŠ็š„ใซใฏไธก่€…ใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็—…ๆ…‹็š„ใซใฏไป–ใฎ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆpulmonary arterial hypertension๏ผšPAH๏ผ‰ใจ้กžไผผใ—ใฆใŠใ‚Šใ€ไธ€่ˆฌๅ†…็ง‘่จบ็™‚ใซใŠใ„ใฆ่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰ใ ใ‘ใงใฏPVOD/PCHใ‚’็–‘ใ†ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏ่ƒธ้ƒจCTๅƒใซใŠใ„ใฆใ€ใ™ใ‚Šใ‚ฌใƒฉใ‚น็Šถ้™ฐๅฝฑใ€ๅฐ่‘‰้–“้š”ๅฃใฎ่‚ฅๅŽšใชใฉใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใฏ็พๅœจใงใ‚‚่‚บ็ต„็น”ใ‹ใ‚‰ใฎ็—…็†็ต„็น”่จบๆ–ญใงใฎใฟๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๅคšใใ€ๆญฃ็ขบใช็™บ็—‡ๆ•ฐใฏๆŠŠๆกใ•ใ‚Œใฆใ„ใชใ„ใฎใŒ็พ็Šถใงใ‚ใ‚‹ใ€‚PVOD/PCHใฏใ‚ใ‚‰ใ‚†ใ‚‹ๅนดไปฃใซ็™บ็—‡ใ—ใ€ๅ–ซ็…™่€…ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบไพ‹ใงใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚15ๆญณๆœชๆบ€ใฎ็—‡ไพ‹ใงใฏ็”ทๅฅณๅทฎใฏ็„กใ„ใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier1200426NANDO:1200405
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/087-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "Pulmonary Veno-Occlusive Disease / Pulmonary Capillary Hemangiomatosis" + "SF-1 abnormality" @en
rdfs:label - "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" + "SF-1็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใˆใ™ใˆใต1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01866http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7287
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157867.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3868https://www.nanbyou.or.jp/entry/3853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1200403
skos:altLabel - "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018554http://purl.obolibrary.org/obo/MONDO_0013066
skos:prefLabel - "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" + "SF-1็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200427 +
http://nanbyodata.jp/ontology/NANDO_1200406 (rdf:type owl:Class @@ -33758,65 +40305,82 @@

hasNotificationNumber87hasNotificationNumber82
dcterms:identifier1200427NANDO:1200406
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/087-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "Pulmonary Veno-Occlusive Disease" + "IMAge syndrome" @en
rdfs:label - "่‚บ้™่„ˆ้–‰ๅกž็—‡" + "IMAge็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ„ใ‚ใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157867.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3282
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02319
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3868https://www.nanbyou.or.jp/entry/3853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200426http://nanbyodata.jp/ontology/NANDO_1200403
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009937http://purl.obolibrary.org/obo/MONDO_0013873
skos:prefLabel - "่‚บ้™่„ˆ้–‰ๅกž็—‡" + "IMAge็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + - - + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200428 +
http://nanbyodata.jp/ontology/NANDO_1200407 (rdf:type owl:Class @@ -33824,70 +40388,105 @@

hasNotificationNumber87hasNotificationNumber82
dcterms:identifier1200428NANDO:1200407
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/087-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "Pulmonary Capillary Hemangiomatosis" + "ACTH unresponsiveness" @en
rdfs:label - "่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" + "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2316http://nanbyodata.jp/ontology/NANDO_1200777
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157867.docxhttp://nanbyodata.jp/ontology/NANDO_2200356
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3868https://www.nanbyou.or.jp/entry/3853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200426http://nanbyodata.jp/ontology/NANDO_1200403
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009329 + skos:altLabel + "ACTHไธๅฟœ็—‡" + @ja
+ skos:altLabel + "Adrenocorticotropic hormone insensitivity" + @en
+ skos:altLabel + "Adrenocorticotropic hormone unresponsiveness" + @en
+ skos:altLabel + "Adrenocorticotropin unresponsiveness" + @en
skos:prefLabel - "่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200429 +
http://nanbyodata.jp/ontology/NANDO_1200408 (rdf:type owl:Class @@ -33895,82 +40494,77 @@

hasNotificationNumber88
- dcterms:description - "ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใจใฏใ€ๅ™จ่ณชๅŒ–ใ—ใŸ่ก€ๆ “ใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใŒ้–‰ๅกžใ—ใ€่‚บ่ก€ๆตๅˆ†ๅธƒๅŠใณ่‚บๅพช็’ฐๅ‹•ๆ…‹ใฎ็•ฐๅธธใŒ๏ผ–ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅ›บๅฎšใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใซใŠใ„ใฆใ€ๅนณๅ‡่‚บๅ‹•่„ˆๅœงใŒ25mmHgไปฅไธŠใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ไพ‹ใ‚’ใ€ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆchronic thromoboembolic pulmonary hypertension๏ผšCTEPH๏ผ‰ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ€ๆ—งๆฅๅŽš็”ŸๅŠดๅƒ็œใŒๆŒ‡ๅฎšใ™ใ‚‹ๆฒป็™‚็ตฆไป˜ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ็‰น็™บๆ€งๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡๏ผˆ่‚บ้ซ˜่ก€ๅœงๅž‹๏ผ‰ใจใ„ใ†ๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€2009ๅนด10ๆœˆใ€ใƒ€ใƒŠใƒใ‚คใƒณใƒˆๅˆ†้กžใซๅˆใ‚ใ›ใฆๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚Œใ€CTEPHใซ็ตฑไธ€ใ•ใ‚ŒใŸใ€‚" - @jahasNotificationNumber82
dcterms:identifier1200429NANDO:1200408
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/088-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "Chronic thromboembolic pulmonary hypertension" + "MC2R deficiency" @en
rdfs:label - "ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + "MC2R็•ฐๅธธ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7250 + rdfs:label + "ใˆใ‚€ใ—ใƒผ2ใ‚ใƒผใ‚‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01622http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1705
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157770.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/192https://www.nanbyou.or.jp/entry/3853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1200407
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013024http://purl.obolibrary.org/obo/MONDO_0024536
skos:prefLabel - "ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + "MC2R็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200430 +
http://nanbyodata.jp/ontology/NANDO_1200409 (rdf:type owl:Class @@ -33978,87 +40572,77 @@

hasNotificationNumber89
- dcterms:description - "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใฏใ€ๅนณๆป‘็ญ‹ๆง˜ใฎ่…ซ็˜็ดฐ่ƒž๏ผˆLAM็ดฐ่ƒž๏ผ‰ใŒๅข—ๆฎ–ใ—ใ€่‚บใซๅคš็™บๆ€งๅšข่ƒžใ‚’ๅฝขๆˆใ™ใ‚‹ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‹ใคๅ…จ่บซๆ€งใฎ่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆTSC๏ผ‰ใซไผดใฃใฆ็™บ็”Ÿใ™ใ‚‹TSC-LAMใจใ€ๅ˜็‹ฌใง็™บ็”Ÿใ™ใ‚‹ๅญค็™บๆ€งLAMใจใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธปใจใ—ใฆๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎๅฅณๆ€งใซ็™บ็—‡ใ—ใ€้€ฒ่กŒใซไผดใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ€ๅ’ณๅ—ฝใ€่ก€็—ฐใ€ไนณใณ่ƒธๆฐดใชใฉใฎ็—‡็Šถใ‚„ๆ‰€่ฆ‹ใŒๅ‡บ็พใ—ใ€่‡ช็„ถๆฐ—่ƒธใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…Ž่‡“ใชใฉใซ่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บ็—…ๅค‰ใŒ้€ฒ่กŒใ™ใ‚‹ใจๅ‘ผๅธๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้€ฒ่กŒใฎ้€Ÿใ•ใฏ็—‡ไพ‹ใ”ใจใซๅคšๆง˜ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier1200430NANDO:1200409
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/089-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "Lymphangioleiomyomatosis" + "MRAP deficiency" @en
rdfs:label - "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡" + "MRAP็•ฐๅธธ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9458 + rdfs:label + "ใˆใ‚€ใ‚ใƒผใ‚‹ใˆใƒผใดใƒผใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00896http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4577
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157956.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/173https://www.nanbyou.or.jp/entry/3853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006277http://nanbyodata.jp/ontology/NANDO_1200407
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011705http://purl.obolibrary.org/obo/MONDO_0011826
skos:prefLabel - "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡" + "MRAP็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200431 +
http://nanbyodata.jp/ontology/NANDO_1200410 (rdf:type owl:Class @@ -34066,87 +40650,91 @@

hasNotificationNumber90
- dcterms:description - "้บไผๅญๅค‰็•ฐใŒๅŽŸๅ› ใง็ถฒ่†œใฎ่ฆ–็ดฐ่ƒžๅŠใณ่‰ฒ็ด ไธŠ็šฎ็ดฐ่ƒžใŒๅบƒ็ฏ„ใซๅค‰ๆ€งใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆๆœŸใซใฏใ€ๅคœ็›ฒใจ่ฆ–้‡Ž็‹ญ็ช„ใ‚’่‡ช่ฆšใ™ใ‚‹ใ€‚ๅพใ€…ใซ้€ฒ่กŒใ—ใ€่€ๅนดใซ่‡ณใฃใฆ็คพไผš็š„ๅคฑๆ˜Ž๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›็ด„0.1ไปฅไธ‹๏ผ‰ใจใชใ‚‹ไพ‹ใ‚‚ๅคšใ„ใŒใ€็”Ÿๆถฏ่‰ฏๅฅฝใช่ฆ–ๅŠ›ใ‚’ไฟใคไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้€ฒ่กŒใซๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚่ฆ–็ดฐ่ƒžใฎใ†ใกๆ†ไฝ“็ดฐ่ƒžใฎใฟใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใ€ๆ†ไฝ“็ดฐ่ƒžใจ้Œไฝ“็ดฐ่ƒžไธก่€…ใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใจ็งฐใ™ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier1200431NANDO:1200410
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/082-201704-kojin.pdf
rdfs:label - "Retinitis pigmentosa" + "Allgrove syndrome" @en
rdfs:label - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡" + "Allgrove็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใŠใƒผใ‚‹ใใ‚ใƒผใถใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2967http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2267
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157730.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/196https://www.nanbyou.or.jp/entry/3853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011http://nanbyodata.jp/ontology/NANDO_1200403
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008377 + skos:altLabel + "Triple A syndrome" + @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011202 + skos:altLabel + "TripleA็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019200http://purl.obolibrary.org/obo/MONDO_0009279
skos:prefLabel - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡" + "Allgrove็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - - - - - + - - + + - -
http://nanbyodata.jp/ontology/nando#1200432 +
http://nanbyodata.jp/ontology/NANDO_1200411 (rdf:type owl:Class @@ -34154,121 +40742,120 @@

hasNotificationNumber90hasNotificationNumber83
+ dcterms:description + "ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏใ€1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ‚ขใ‚ธใ‚ฝใƒณ๏ผˆAddison๏ผ‰็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œใ€่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200432NANDO:1200411
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdf
rdfs:label - "Sporadic retinitis pigmentosa" + "Addison's disease" @en
rdfs:label - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰" + "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docxhttp://nanbyodata.jp/ontology/NANDO_2200360
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/196
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200431http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400
- skos:prefLabel - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰" - @ja + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01598
- - - - - + + - - + + - - + + - + - + - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200433 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber90 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docx
- dcterms:identifier1200433 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/206
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdf + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100009
- rdfs:label + skos:altLabel - "autosomal dominant retinitis pigmentosa" + "Addison disease" @en
- rdfs:label + skos:altLabel - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅญๅž‹๏ผ‰" + "Addison็—…" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docx + skos:altLabel + "Primary chronic adrenocortical insufficiency" + @en
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/196 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200431 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015129
skos:prefLabel - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅญๅž‹๏ผ‰" + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200434 +
http://nanbyodata.jp/ontology/NANDO_1200412 (rdf:type owl:Class @@ -34276,60 +40863,84 @@

hasNotificationNumber90hasNotificationNumber83
dcterms:identifier1200434NANDO:1200412
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdf
rdfs:label - "Autosomal Recessive Retinitis Pigmentosa" + "Autoimmune Addison's disease" @en
rdfs:label - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰" + "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†๏ผˆใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใตใใ˜ใ‚“ใˆใ‚“๏ผ‰" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/196https://www.nanbyou.or.jp/entry/206
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200431http://nanbyodata.jp/ontology/NANDO_1200411
+ skos:altLabel + "็‰น็™บๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410
skos:prefLabel - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰" + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200435 +
http://nanbyodata.jp/ontology/NANDO_1200413 (rdf:type owl:Class @@ -34337,60 +40948,67 @@

hasNotificationNumber90hasNotificationNumber83
dcterms:identifier1200435NANDO:1200413
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdf
rdfs:label - "X-linked recessive retinitis pigmentosa" + "Tuberculous Addison's disease" @en
rdfs:label - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰" + "ใ‘ใฃใ‹ใใ›ใ„ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/196https://www.nanbyou.or.jp/entry/206
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200431http://nanbyodata.jp/ontology/NANDO_1200411
skos:prefLabel - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰" + "็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200436 +
http://nanbyodata.jp/ontology/NANDO_1200414 (rdf:type owl:Class @@ -34398,60 +41016,67 @@

hasNotificationNumber90hasNotificationNumber83
dcterms:identifier1200436NANDO:1200414
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/083-201704-kojin.pdf
rdfs:label - "Digenic retinitis pigmentosa" + "Infectious Addison's disease" @en
rdfs:label - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰" + "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†๏ผˆใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†๏ผ‰" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157667.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/196https://www.nanbyou.or.jp/entry/206
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200431http://nanbyodata.jp/ontology/NANDO_1200411
skos:prefLabel - "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰" + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200437 +
http://nanbyodata.jp/ontology/NANDO_1200415 (rdf:type owl:Class @@ -34459,82 +41084,84 @@

hasNotificationNumber91hasNotificationNumber84
dcterms:description - "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใฏใ€่‚้™่„ˆใฎไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚ๆœฌ้‚ฆใงใฏไธก่€…ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹็—…ๆ…‹ใŒๅคšใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ไธ‹่…ฟๆตฎ่…ซใ€ไธ‹่‚ข้™่„ˆ็˜คใ€่ƒธ่…นๅฃใฎไธŠ่กŒๆ€ง็šฎไธ‹้™่„ˆๆ€’ๅผตใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅคšใใฏ็™บ็—‡ๆ™‚ๆœŸใŒไธๆ˜Žใงๆ…ขๆ€งใฎ็ตŒ้Ž๏ผˆใ‚ขใ‚ธใ‚ขใซๅคšใ„๏ผ‰ใ‚’ใจใ‚Šใ€ใ†ใฃ่ก€ๆ€ง่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Šๆ€ฅๆ€ง็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆ๏ผˆๆฌง็ฑณใซๅคšใ„๏ผ‰ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ขใ‚ธใ‚ขใงใฏไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใŒๅคšใใ€ๆฌง็ฑณใงใฏ่‚้™่„ˆ้–‰ๅกžใŒๅคšใ„ใ€‚ๅˆ†้กžใจใ—ใฆใ€ๅŽŸ็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจ็ถš็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใŒใ‚ใ‚‹ใ€‚็—…็ŠถใŒ้€ฒ่กŒใ™ใ‚‹ใจ่‚็ดฐ่ƒž็™Œใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚้™่„ˆๆœซๆขขๆžใฎ้ž่ก€ๆ “ๆ€ง้–‰ๅกžใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹้™่„ˆ้–‰ๅกžๆ€ง็–พๆ‚ฃ๏ผˆvenoโ€occlusive disease๏ผ‰ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚" + "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅŽŸๅ› ไธๆ˜Žใฎๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‹ฅๅนด่€…ใ‹ใ‚‰้ซ˜้ฝข่€…ใพใง็™บ็—‡ใ™ใ‚‹ใ€‚็™บ็—…ๆ™‚ใฎ่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ€ใใฎๅพŒใฎ่‡จๅบŠ็ตŒ้ŽใŒๅคšๆง˜ใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚่‚บ้–€็ธฆ้š”ใƒชใƒณใƒ‘็ฏ€ใ€่‚บใ€็œผใ€็šฎ่†šใฎ็ฝนๆ‚ฃ้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€็ฅž็ตŒใ€็ญ‹ใ€ๅฟƒ่‡“ใ€่…Ž่‡“ใ€้ชจใ€ๆถˆๅŒ–ๅ™จใชใฉๅ…จ่บซใฎใปใจใ‚“ใฉใฎ่‡“ๅ™จใง็ฝนๆ‚ฃใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏๆคœ่จบใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถใฎใ‚‚ใฎใŒๅคšใ่‡ช็„ถๆ”นๅ–„ไพ‹ใ‚‚ๅคšใ‹ใฃใŸใŒใ€่ฟ‘ๅนดใฏ่‡ช่ฆš็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ‚‚ใฎใŒๅข—ๅŠ ใ—ใฆ็ตŒ้Žใ‚‚้•ทๅผ•ใไพ‹ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ไนพ้…ชๅฃŠๆญปใ‚’ไผดใ‚ใชใ„้กžไธŠ็šฎ็ดฐ่ƒž่‚‰่Šฝ่…ซใฎ่จผๆ˜ŽใŒใ‚ใ‚Œใฐ็ต„็น”่จบๆ–ญ็พคใจใชใ‚‹ใŒใ€็ต„็น”็”Ÿๆคœใซใ‚ˆใ‚‹่จบๆ–ญใŒๅพ—ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใซใฏ่‡จๅบŠ่จบๆ–ญ็พคๅˆใฏ็–‘่จบ็พคใจใชใ‚‹ใ€‚่‚บใ€ๅฟƒ่‡“ใ€็œผใ€็ฅž็ตŒใ€่…Ž่‡“ใชใฉ็”Ÿๅ‘ฝไบˆๅพŒใƒปๆฉŸ่ƒฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใงใฏใ€ๅๅˆ†ใชๆฒป็™‚ใจ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200437NANDO:1200415
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/091-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/084-201704-kojin.pdf
rdfs:label - "Budd-Chiari syndrome" + "Sarcoidosis" @en
rdfs:label - "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค" + "ใ•ใ‚‹ใ“ใ„ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3771https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01309
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198069.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157708.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/174https://www.nanbyou.or.jp/entry/266
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006786http://nanbyodata.jp/ontology/NANDO_1100010
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010947http://purl.obolibrary.org/obo/MONDO_0019338
skos:prefLabel - "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค" + "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200438 +
http://nanbyodata.jp/ontology/NANDO_1200416 (rdf:type owl:Class @@ -34542,89 +41169,96 @@

hasNotificationNumber92hasNotificationNumber85
dcterms:description - "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใจใฏใ€่‚ๅ†…ๆœซๆขข้–€่„ˆๆžใฎ้–‰ๅกžใ€็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚้€šๅธธใ€่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใฏใชใใ€่‚็ดฐ่ƒž็™Œใฎๆฏๅœฐใซใฏใชใ‚‰ใชใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€้–€่„ˆ่ก€ๆ “ใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅŽš็”ŸๅŠดๅƒ็œ็‰นๅฎš็–พๆ‚ฃ้–€่„ˆ่ก€่กŒ็•ฐๅธธ็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใฎ็ตๆžœใงใฏใ€็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ“ใ€็™บ็—‡ใฎใƒ”ใƒผใ‚ฏใฏ50ๆญณไปฃใงใ€ๅนณๅ‡ๅนด้ฝขใฏ47.0ๆญณ๏ผˆ็”ทๆ€ง39.7ๆญณใ€ๅฅณๆ€ง50.4ๆญณ๏ผ‰ใงใ‚ใ‚‹ใ€‚" + "้–“่ณชๆ€ง่‚บ็‚Žใจใฏใ€่ƒธ้ƒจX็ทšๅ†™็œŸใ‚„CT็”ปๅƒใซใฆไธกๅดใณใพใ‚“ๆ€งใฎ้™ฐๅฝฑใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎใ†ใกใ€่‚บใฎ้–“่ณชใ‚’็‚Ž็—‡ใ‚„็ทš็ถญๅŒ–็—…ๅค‰ใฎๅ ดใจใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้–“่ณชๆ€ง่‚บ็‚ŽใฎๅŽŸๅ› ใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€่ทๆฅญใƒป็’ฐๅขƒๆ€งใ‚„่–ฌๅ‰คใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใชใ‚‚ใฎใ‚„ใ€่† ๅŽŸ็—…ใƒปใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎๅ…จ่บซๆ€ง็–พๆ‚ฃใซไป˜้šใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใจใ‚‚ใซใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆIIPs๏ผ‰ใฏๅŽŸๅ› ใ‚’็‰นๅฎšใ—ใˆใชใ„้–“่ณชๆ€ง่‚บ็‚Žใฎ็ท็งฐใงใ‚ใ‚Šใ€็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡๏ผˆIPF๏ผ‰ใชใฉใฎ๏ผ—็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200438NANDO:1200416
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/092-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "Idiopathic portal hypertension" + "Idiopathic interstitial pneumonia" @en
rdfs:label - "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡" + "ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01686http://nanbyodata.jp/ontology/NANDO_2200199
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198073.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01716
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/162https://www.nanbyou.or.jp/entry/156
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1100010
skos:altLabel - "Banti syndrome" + "IIPs" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021969
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037251http://purl.obolibrary.org/obo/MONDO_0002429
skos:prefLabel - "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡" + "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200439 +
http://nanbyodata.jp/ontology/NANDO_1200417 (rdf:type owl:Class @@ -34632,79 +41266,96 @@

hasNotificationNumber93
- dcterms:description - "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary biliary cholangitis๏ผšPBCใ€‚ๆ—ง็งฐ๏ผšๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰๏ผ‰ใฏ็—…ๅ› ใŒๆœชใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†ๆฑใ†ใฃๆปžใซไผดใ„่‚ๅฎŸ่ณช็ดฐ่ƒžใฎ็ ดๅฃŠใจ็ทš็ถญๅŒ–ใ‚’็”Ÿใ˜ใ€ๆœ€็ต‚็š„ใซใฏ่‚็กฌๅค‰ใ‹ใ‚‰่‚ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่ƒ†ๆฑใ†ใฃๆปžใซไผดใ†ใใ†็—’ๆ„Ÿใ€ๅŠใณ่‡ชๅทฑๆŠ—ไฝ“ใฎ๏ผ‘ใคใงใ‚ใ‚‹ๆŠ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆŠ—ไฝ“๏ผˆAnti-mitochondrial antibodies๏ผšAMA๏ผ‰ใฎ้™ฝๆ€งๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ไธญๅนดไปฅๅพŒใฎๅฅณๆ€งใซๅคšใ„ใ€‚่‡จๅบŠ็—‡็Šถใ‚‚ๅ…จใใฟใ‚‰ใ‚Œใชใ„็„ก็—‡ๅ€™ๆ€งPBCใฎ็—‡ไพ‹ใ‚‚ๅคšใใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏ้•ทๅนด็„ก็—‡็Šถใง็ตŒ้Žใ—ไบˆๅพŒใ‚‚ใ‚ˆใ„ใ€‚ใชใŠใ€ๆœฌ็–พๆ‚ฃใฏไปฅๅ‰ใ€ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ๆœฌ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸๅฝ“ๆ™‚ใฏใ€ๅคงๅคšๆ•ฐใฎ็—‡ไพ‹ใŒ่‚็กฌๅค‰ใพใง้€ฒ่กŒใ—ใŸๆฎต้šŽใง็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใŸใŸใ‚ใ€Œ่‚็กฌๅค‰ใ€ใจใ„ใ†่ชžๅฅใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€่จบๆ–ญใƒปๆฒป็™‚ๆŠ€่ก“ใฎ้€ฒๆญฉใ—ใŸ็พๅœจใงใฏใ€ใปใจใ‚“ใฉใฎๆ‚ฃ่€…ใŒ่‚็กฌๅค‰ใฎ็Šถๆ…‹ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€2016ๅนดใซๆ—ฅๆœฌ่‚่‡“ๅญฆไผšๅŠใณๆ—ฅๆœฌๆถˆๅŒ–ๅ™จ็—…ๅญฆไผšใซใŠใ„ใฆใ€ŒๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Žใ€ใธใฎ็—…ๅๅค‰ๆ›ดใŒๆฑบๅฎšใ•ใ‚ŒใŸใ€‚" - @jahasNotificationNumber85
dcterms:identifier1200439NANDO:1200417
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/093-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "Primary Biliary Cholangitis" + "Idiopathic pulmonary fibrosis" @en
rdfs:label - "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž" + "ใจใใฏใคใ›ใ„ใฏใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157694.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1325
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01299
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/93https://www.nanbyou.or.jp/entry/156
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200416
skos:altLabel - "Primary biliary cirrhosis" + "IPF" @en
+ skos:altLabel + "IPF" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005388http://purl.obolibrary.org/obo/MONDO_0008345
skos:prefLabel - "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž" + "็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡" @ja
- - + - - - - - - + + - + - + + "IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž" + @ja - - - - + "interstitial pneumonia other than IPF" + @en - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200440 +
http://nanbyodata.jp/ontology/NANDO_1200418 (rdf:type owl:Class @@ -34712,87 +41363,67 @@

hasNotificationNumber94
- dcterms:description - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPSC๏ผ‰ใฏใ€่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใฎ็ทš็ถญๆ€ง็‹ญ็ช„ใ‚’็”Ÿใ˜ใ‚‹้€ฒ่กŒๆ€งใฎๆ…ขๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†็ฎก็‚Žใ€AIDSใฎ่ƒ†็ฎก้šœๅฎณใ€่ƒ†็ฎกๆ‚ชๆ€ง่…ซ็˜๏ผˆPSC่จบๆ–ญๅพŒๅŠใณๆ—ฉๆœŸ็™Œใฏไพ‹ๅค–๏ผ‰ใ€่ƒ†้“ใฎๆ‰‹่ก“ใ‚„ๅค–ๅ‚ทใ€็ท่ƒ†็ฎก็ต็Ÿณใ€ๅ…ˆๅคฉๆ€ง่ƒ†้“็•ฐๅธธใ€่…้ฃŸๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ€่ƒ†็ฎกใฎ่™š่ก€ๆ€ง็‹ญ็ช„ใ€floxuridineๅ‹•ๆณจใซใ‚ˆใ‚‹่ƒ†็ฎก้šœๅฎณใ‚„็‹ญ็ช„ใซไผดใ†ใ‚‚ใฎใฏใ€๏ผ’ๆฌกๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใจใ—ใฆ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใซไผดใ†ใ‚‚ใฎใ‚’ๅซใ‚ใฆใ€IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ‚‚้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚2012ๅนดใฎๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใซใ‚ˆใ‚Œใฐใ€้ ปๅบฆใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ็—‡ๅนด้ฝขใฏ20ๆญณใจ60ๆญณไปฃใฎ๏ผ’ๅณฐๆ€งใงใ‚ใ‚‹ใ€‚่‚ๅ†…่‚ๅค–่ƒ†็ฎกไธกๆ–นใฎ็ฝนๆ‚ฃไพ‹ใŒๅคšใใ€ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฎๅˆไฝตใ‚’34๏ผ…ใซใ€่ƒ†็ฎก็™Œใฎๅˆไฝตใ‚’7.3๏ผ…ใซ่ชใ‚ใŸใ€‚" - @jahasNotificationNumber85
dcterms:identifier1200440NANDO:1200418
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/094-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "Primary sclerosing cholangitis" - @en
rdfs:label - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9460
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01684 + rdfs:label + "ใ‚ใ„ใดใƒผใˆใตใ„ใŒใ„ใฎใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157691.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3967https://www.nanbyou.or.jp/entry/156
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013433
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018646http://nanbyodata.jp/ontology/NANDO_1200416
skos:prefLabel - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + "IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใฒใจใใ„ใฆใใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200441 +
http://nanbyodata.jp/ontology/NANDO_1200419 (rdf:type owl:Class @@ -34800,77 +41431,86 @@

hasNotificationNumber95
- dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใฏใ€่‚็ดฐ่ƒž้šœๅฎณใฎๆˆ็ซ‹ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹่‚็‚Žใงใ‚ใ‚Šใ€ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅŽŸๅ‰‡็š„ใซใฏๆ—ข็Ÿฅใฎ่‚็‚Žใ‚ฆใ‚คใƒซใ‚นใ€ใ‚ขใƒซใ‚ณใƒผใƒซใ€่–ฌ็‰ฉใซใ‚ˆใ‚‹่‚้šœๅฎณใ€ๅŠใณไป–ใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซๅŸบใฅใ่‚้šœๅฎณใฏ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€ๆฒป็™‚ใซ้š›ใ—ๅ…็–ซๆŠ‘ๅˆถๅ‰คใ€็‰นใซใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใ‚คใƒ‰ใŒ่‘—ๅŠนใ‚’ๅฅใ™ใ€‚ไธ€ๆ–นใ€ๆœ€่ฟ‘ใฎ่ชฟๆŸปใซใ‚ˆใ‚Šใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใฎๅญ˜ๅœจใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ60ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ€ๅณฐๆ€งใ‚’็คบใ—ใ€ๅคšใใฏไธญๅนดไปฅ้™ใฎ็™บ็—‡ใงใ‚ใ‚Šใ€ๆœ€่ฟ‘้ซ˜้ฝขๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ–ใงๅฅณๆ€งใซๅคšใ„ใ€‚" - @jahasNotificationNumber85
dcterms:identifier1200441NANDO:1200419
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/095-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "Autoimmune hepatitis" + "non-specific interstitial pneumonia" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01685 + rdfs:label + "้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž " + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157712.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/113https://www.nanbyou.or.jp/entry/156
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200418
+ skos:altLabel + "NSIP" + @en
+ skos:altLabel + "NSIP" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016264http://purl.obolibrary.org/obo/MONDO_0019622
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" + "้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž " @ja
- - + - - + + - + - + + + + + + + + + - + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200442 +
http://nanbyodata.jp/ontology/NANDO_1200420 (rdf:type owl:Class @@ -34878,46 +41518,86 @@

hasNotificationNumber95hasNotificationNumber85
dcterms:identifier1200442NANDO:1200420
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/095-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰" + "acute interstitial pneumonia" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157712.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/113https://www.nanbyou.or.jp/entry/156
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200441http://nanbyodata.jp/ontology/NANDO_1200418
+ skos:altLabel + "AIP" + @en
+ skos:altLabel + "AIP" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019203
+ skos:prefLabel + "ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" + @ja
- - + - - + + - + - + + + + + + + + + - + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200443 +
http://nanbyodata.jp/ontology/NANDO_1200421 (rdf:type owl:Class @@ -34925,46 +41605,86 @@

hasNotificationNumber95hasNotificationNumber85
dcterms:identifier1200443NANDO:1200421
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/095-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" + "Cryptogenic organizing pneumonia" + @en
+ rdfs:label + "ใจใใฏใคใ›ใ„ใใ—ใคใ‹ใฏใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157712.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/113https://www.nanbyou.or.jp/entry/302
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200441http://nanbyodata.jp/ontology/NANDO_1200418
+ skos:altLabel + "COP" + @en
+ skos:altLabel + "COP" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015264
+ skos:prefLabel + "็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž" + @ja
- - + - - - - - - + + - + - + + "ใฏใใ‚ŠใŒใŸใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira - - + + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200444 +
http://nanbyodata.jp/ontology/NANDO_1200422 (rdf:type owl:Class @@ -34972,94 +41692,91 @@

hasNotificationNumber96
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๅŽŸๅ› ไธๆ˜Žใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ๆฝฐ็˜ใ‚„็ทš็ถญๅŒ–ใ‚’ไผดใ†่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‹ใ‚‰ใชใ‚Šใ€ๆถˆๅŒ–็ฎกใฎใฉใฎ้ƒจไฝใซใ‚‚่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกไปฅๅค–๏ผˆ็‰นใซ็šฎ่†š๏ผ‰ใซใ‚‚็—…ๅค‰ใŒ่ตทใ“ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅฝ“ๅˆใฎๅ ฑๅ‘Šใงใฏๅ›ž่…ธๆœซ็ซฏใ‚’ไพตใ™๏ผˆๅ›ž่…ธๆœซ็ซฏ็‚Ž๏ผ‰ใจ่จ˜่ผ‰ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎๆถˆๅŒ–็ฎกใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ่ตทใ“ใ‚Šใ†ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚่‡จๅบŠๅƒใฏ็—…ๅค‰ใฎ้ƒจไฝใ‚„็ฏ„ๅ›ฒใซใ‚ˆใฃใฆๅคšๅฝฉใงใ‚ใ‚‹ใ€‚็™บ็†ฑใ€ๆ „้คŠ้šœๅฎณใ€่ฒง่ก€ใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚„้–ข็ฏ€็‚Žใ€่™นๅฝฉ็‚Žใ€่‚้šœๅฎณใชใฉใฎๅ…จ่บซๆ€งๅˆไฝต็—‡ใŒ่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚" - @jahasNotificationNumber85
dcterms:identifier1200444NANDO:1200422
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "Crohn's Disease" + "Desquamative interstitial pneumonia" @en
rdfs:label - "ใ‚ฏใƒญใƒผใƒณ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2948 + rdfs:label + "ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž " + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00286http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2871
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/81https://www.nanbyou.or.jp/entry/156
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200418
skos:altLabel - "Crohn disease" + "DIP" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005011 + skos:altLabel + "DIP" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009960http://purl.obolibrary.org/obo/MONDO_0009887
skos:prefLabel - "ใ‚ฏใƒญใƒผใƒณ็—…" + "ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž " @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + - -
http://nanbyodata.jp/ontology/nando#1200445 +
http://nanbyodata.jp/ontology/NANDO_1200423 (rdf:type owl:Class @@ -35067,121 +41784,91 @@

hasNotificationNumber96hasNotificationNumber85
dcterms:identifier1200445NANDO:1200423
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "Ileal Crohn's disease" + "Respiratory bronchiolitis-associated interstitial lung disease" @en
rdfs:label - "ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + "ใ“ใใ‚…ใ†ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2871
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/81https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/302
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200444http://nanbyodata.jp/ontology/NANDO_1200418
- skos:prefLabel + skos:altLabel - "ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + "RB-ILD" @ja
- - - - - - - - - - - - - - - - + - - - - - - - - - - - - - - + +
http://nanbyodata.jp/ontology/nando#1200446 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber96
- dcterms:identifier1200446
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdf
- rdfs:label + skos:altLabel - "Colonicย Crohnย Disease" + "RBILD" @en
- rdfs:label - "ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/81
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200444 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009887
skos:prefLabel - "ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + "ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200447 +
http://nanbyodata.jp/ontology/NANDO_1200424 (rdf:type owl:Class @@ -35189,60 +41876,84 @@

hasNotificationNumber96hasNotificationNumber85
dcterms:identifier1200447NANDO:1200424
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/085-201704-kojin.pdf
rdfs:label - "Crohn ileocolitis" + "Lymphoid interstitial pneumonia" @en
rdfs:label - "ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + "ใ‚Šใ‚“ใฑใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2525
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/81https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198066.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/302
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200444http://nanbyodata.jp/ontology/NANDO_1200418
+ skos:altLabel + "LIP" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009537
skos:prefLabel - "ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + "ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200448 +
http://nanbyodata.jp/ontology/NANDO_1200425 (rdf:type owl:Class @@ -35250,60 +41961,96 @@

hasNotificationNumber96hasNotificationNumber86
+ dcterms:description + "ๆ—งๆฅใฎๅ…ธๅž‹็š„ใช๏ผˆ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰IPAH๏ผ๏ผˆ้บไผๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰HPAHใฏใ€ๆฅตใ‚ใฆใพใ‚Œใชใ€็‰นใซๅŽŸๅ› ใจๆ€ใ‚ใ‚Œใ‚‹ๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„้ซ˜ๅบฆใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš1.7ใจๅฅณๆ€งใซๅคšใใ€็™บ็—‡ๅนด้ฝขใ‚‚่‹ฅๅนดใงใ€ๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ100ไธ‡ไบบใซ๏ผ‘๏ฝž๏ผ’ไบบใจ็จ€ใช็–พๆ‚ฃใงใ€ๆฒป็™‚ไป‹ๅ…ฅใ‚’่กŒใ‚ใชใ‹ใฃใŸๅ ดๅˆใ€่จบๆ–ญใ‹ใ‚‰ใฎๅนณๅ‡็”Ÿๅญ˜ๆœŸ้–“ใŒ2.8ๅนดใจ้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใฃใŸใ€‚ใ—ใ‹ใ—ใ€ๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏๅฐๅ…ๆœŸใซใ‚‚ๅฅฝ็™บๅนด้ฝขๅธฏใŒๅญ˜ๅœจใ—ใ€ใ“ใฎๆ™‚ๆœŸใฎ็™บ็—‡ไพ‹ใงใฏๆ€งๅทฎใฏใชใ„ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใใŸใ€‚ๆœฌ็—‡ใฏใ“ใ‚Œใพใงๆฒป็™‚ๆณ•ใŒ็š†็„กใงใ‚ใฃใŸใŒใ€1990ๅนดไปฅ้™ใซๆฌกใ€…ใจๆฒป็™‚่–ฌใŒ้–‹็™บใ•ใ‚Œใ€็พๆ™‚็‚นใงใฏไฝœ็”จๆฉŸๅบใฎ็•ฐใชใ‚‹๏ผ“็จฎ้กžใฎๆฒป็™‚่–ฌใŒๅญ˜ๅœจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅ˜ๅ‰คใพใŸใฏ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Š็”Ÿๅ‘ฝไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใŸใ€‚ใ—ใ‹ใ—ใ€่–ฌๅ‰คๆŠตๆŠ—ๆ€งใฎไพ‹ใงใฏใ€้ฉๅˆ‡ใชๆ™‚ๆœŸใซ่‚บ็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200448NANDO:1200425
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/086-201704-kojin.pdf
rdfs:label - "atypical crohn's disease" + "Pulmonary arterial hypertension" @en
rdfs:label - "็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + "ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docxhttp://nanbyodata.jp/ontology/NANDO_2200298
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/81https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01621
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157754.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/253
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200444http://nanbyodata.jp/ontology/NANDO_1100010
+ skos:altLabel + "PAH" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015924
skos:prefLabel - "็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
- - + - - + + - + - + + "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใใใ—ใ‚‡ใ†๏ผใฏใ„ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200449 +
http://nanbyodata.jp/ontology/NANDO_1200426 (rdf:type owl:Class @@ -35311,87 +42058,105 @@

hasNotificationNumber97hasNotificationNumber87
dcterms:description - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฏใ€ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅคง่…ธใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ€‚ๅŒป็ง‘ๅญฆๅ›ฝ้š›็ต„็น”ๅง”ๅ“ก๏ผˆCIOMS๏ผ‰ใงใฏใ€Œไธปใจใ—ใฆ็ฒ˜่†œใจ็ฒ˜่†œไธ‹ๅฑคใ‚’ไพตใ™ใ€ๅคง่…ธ็‰นใซ็›ด่…ธใฎ็‰น็™บๆ€งใ€้ž็‰น็•ฐ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€‚30ๆญณไปฅไธ‹ใฎๆˆไบบใซๅคšใ„ใŒใ€ๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๅนด้ฝขๅฑคใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€ๅ…็–ซ็—…็†ๅญฆ็š„ๆฉŸๅบใ‚„ๅฟƒ็†ๅญฆ็š„่ฆๅ› ใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้€šๅธธ่ก€ๆ€งไธ‹็—ขใจ็จฎใ€…ใฎ็จ‹ๅบฆใฎๅ…จ่บซ็—‡็Šถใ‚’็คบใ™ใ€‚้•ทๆœŸใซใ‚ใŸใ‚Šใ€ใ‹ใคๅคง่…ธๅ…จไฝ“ใ‚’ไพตใ™ๅ ดๅˆใซใฏๆ‚ชๆ€งๅŒ–ใฎๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใฏๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‹ใ‚‰้•ทๆœŸ้–“ใฎๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" + "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผˆpulmonary veno-occlusive disease๏ผšPVOD๏ผ‰ใฏๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‚บๅ†…ใฎ้™่„ˆใŒไธปใช็—…ๅค‰้ƒจไฝใงใ‚ใ‚Šใ€่‚บ้™่„ˆใฎๅ†…่†œ่‚ฅๅŽšใ‚„็ทš็ถญๅŒ–็ญ‰ใซใ‚ˆใ‚‹้–‰ๅกžใ‚’่ชใ‚ใ‚‹ใ€‚่‚บๆฏ›็ดฐ็ฎก่…ซ็—‡๏ผˆpulmonary capillary hemangiomatosis๏ผšPCH๏ผ‰ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซ่‚บ่ƒžๅฃใฎๆฏ›็ดฐ็ฎกๅข—็”Ÿใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไธก็–พๆ‚ฃใจใ‚‚ใซ่‚บๅ†…ใฎ้™่„ˆ้–‰ๅกžใ‚’็”Ÿใ˜ใ€่‚บ้™่„ˆไธญๆžขๅดใงใ‚ใ‚‹่‚บๅ‹•่„ˆใฎ่ก€ๅœง๏ผˆ่‚บๅ‹•่„ˆๅœง๏ผ‰ใฎๆŒ็ถš็š„ใชไธŠๆ˜‡ใ‚’ๆฅใŸใ™ใ“ใจใซใชใ‚‹ใ€‚ใใฎใŸใ‚ใ€่‡จๅบŠ็š„ใซใฏไธก่€…ใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็—…ๆ…‹็š„ใซใฏไป–ใฎ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆpulmonary arterial hypertension๏ผšPAH๏ผ‰ใจ้กžไผผใ—ใฆใŠใ‚Šใ€ไธ€่ˆฌๅ†…็ง‘่จบ็™‚ใซใŠใ„ใฆ่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰ใ ใ‘ใงใฏPVOD/PCHใ‚’็–‘ใ†ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏ่ƒธ้ƒจCTๅƒใซใŠใ„ใฆใ€ใ™ใ‚Šใ‚ฌใƒฉใ‚น็Šถ้™ฐๅฝฑใ€ๅฐ่‘‰้–“้š”ๅฃใฎ่‚ฅๅŽšใชใฉใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใฏ็พๅœจใงใ‚‚่‚บ็ต„็น”ใ‹ใ‚‰ใฎ็—…็†็ต„็น”่จบๆ–ญใงใฎใฟๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๅคšใใ€ๆญฃ็ขบใช็™บ็—‡ๆ•ฐใฏๆŠŠๆกใ•ใ‚Œใฆใ„ใชใ„ใฎใŒ็พ็Šถใงใ‚ใ‚‹ใ€‚PVOD/PCHใฏใ‚ใ‚‰ใ‚†ใ‚‹ๅนดไปฃใซ็™บ็—‡ใ—ใ€ๅ–ซ็…™่€…ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบไพ‹ใงใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚15ๆญณๆœชๆบ€ใฎ็—‡ไพ‹ใงใฏ็”ทๅฅณๅทฎใฏ็„กใ„ใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200449NANDO:1200426
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/087-201704-kojin.pdf
rdfs:label - "Ulcerative colitis" + "Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis" @en
rdfs:label - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2948 + rdfs:label + "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01466https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01866
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157867.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/62https://www.nanbyou.or.jp/entry/3869
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1100010
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005101 + skos:altLabel + "PVOD / PCH" + @en
+ skos:altLabel + "Pulmonary veno-occlusive disease / pulmonary capillary haemangiomatosis" + @en
+ skos:altLabel + "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009960http://purl.obolibrary.org/obo/MONDO_0018554
skos:prefLabel - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" + "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200450 +
http://nanbyodata.jp/ontology/NANDO_1200427 (rdf:type owl:Class @@ -35399,65 +42164,79 @@

hasNotificationNumber97hasNotificationNumber87
dcterms:identifier1200450NANDO:1200427
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/087-201704-kojin.pdf
rdfs:label - "pan-ulcerative colitis" + "Pulmonary veno-occlusive disease" @en
rdfs:label - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰" + "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บ้™่„ˆ้–‰ๅกž็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157867.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/62https://www.nanbyou.or.jp/entry/3869
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200449http://nanbyodata.jp/ontology/NANDO_1200426
+ skos:altLabel + "PVOD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005536http://purl.obolibrary.org/obo/MONDO_0009937
skos:prefLabel - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰" + "่‚บ้™่„ˆ้–‰ๅกž็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200451 +
http://nanbyodata.jp/ontology/NANDO_1200428 (rdf:type owl:Class @@ -35465,60 +42244,81 @@

hasNotificationNumber97hasNotificationNumber87
dcterms:identifier1200451NANDO:1200428
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/087-201704-kojin.pdf
rdfs:label - "left-sided colitis" + "Pulmonary capillary hemangiomatosis" @en
rdfs:label - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰" + "ใฏใ„ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157867.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/62https://www.nanbyou.or.jp/entry/3869
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200449http://nanbyodata.jp/ontology/NANDO_1200426
+ skos:altLabel + "PCH" + @en
+ skos:altLabel + "Pulmonary capillary haemangiomatosis" + @en
skos:prefLabel - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰" + "่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200452 +
http://nanbyodata.jp/ontology/NANDO_1200429 (rdf:type owl:Class @@ -35526,60 +42326,96 @@

hasNotificationNumber97hasNotificationNumber88
+ dcterms:description + "ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใจใฏใ€ๅ™จ่ณชๅŒ–ใ—ใŸ่ก€ๆ “ใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใŒ้–‰ๅกžใ—ใ€่‚บ่ก€ๆตๅˆ†ๅธƒๅŠใณ่‚บๅพช็’ฐๅ‹•ๆ…‹ใฎ็•ฐๅธธใŒ๏ผ–ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅ›บๅฎšใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใซใŠใ„ใฆใ€ๅนณๅ‡่‚บๅ‹•่„ˆๅœงใŒ25mmHgไปฅไธŠใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ไพ‹ใ‚’ใ€ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆchronic thromoboembolic pulmonary hypertension๏ผšCTEPH๏ผ‰ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ€ๆ—งๆฅๅŽš็”ŸๅŠดๅƒ็œใŒๆŒ‡ๅฎšใ™ใ‚‹ๆฒป็™‚็ตฆไป˜ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ็‰น็™บๆ€งๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡๏ผˆ่‚บ้ซ˜่ก€ๅœงๅž‹๏ผ‰ใจใ„ใ†ๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€2009ๅนด10ๆœˆใ€ใƒ€ใƒŠใƒใ‚คใƒณใƒˆๅˆ†้กžใซๅˆใ‚ใ›ใฆๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚Œใ€CTEPHใซ็ตฑไธ€ใ•ใ‚ŒใŸใ€‚" + @ja
dcterms:identifier1200452NANDO:1200429
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/088-201704-kojin.pdf
rdfs:label - "Ulcerative proctitis" + "Chronic thromboembolic pulmonary hypertension" @en
rdfs:label - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰" + "ใพใ‚“ใ›ใ„ใ‘ใฃใ›ใ‚“ใใใ›ใ‚“ใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7250
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/62https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01622
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157770.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/307
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200449http://nanbyodata.jp/ontology/NANDO_1100010
+ skos:altLabel + "CTEPH" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013024
skos:prefLabel - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰" + "ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200453 +
http://nanbyodata.jp/ontology/NANDO_1200430 (rdf:type owl:Class @@ -35587,74 +42423,98 @@

hasNotificationNumber97hasNotificationNumber89
+ dcterms:description + "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใฏใ€ๅนณๆป‘็ญ‹ๆง˜ใฎ่…ซ็˜็ดฐ่ƒž๏ผˆLAM็ดฐ่ƒž๏ผ‰ใŒๅข—ๆฎ–ใ—ใ€่‚บใซๅคš็™บๆ€งๅšข่ƒžใ‚’ๅฝขๆˆใ™ใ‚‹ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‹ใคๅ…จ่บซๆ€งใฎ่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆTSC๏ผ‰ใซไผดใฃใฆ็™บ็”Ÿใ™ใ‚‹TSC-LAMใจใ€ๅ˜็‹ฌใง็™บ็”Ÿใ™ใ‚‹ๅญค็™บๆ€งLAMใจใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธปใจใ—ใฆๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎๅฅณๆ€งใซ็™บ็—‡ใ—ใ€้€ฒ่กŒใซไผดใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ€ๅ’ณๅ—ฝใ€่ก€็—ฐใ€ไนณใณ่ƒธๆฐดใชใฉใฎ็—‡็Šถใ‚„ๆ‰€่ฆ‹ใŒๅ‡บ็พใ—ใ€่‡ช็„ถๆฐ—่ƒธใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…Ž่‡“ใชใฉใซ่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บ็—…ๅค‰ใŒ้€ฒ่กŒใ™ใ‚‹ใจๅ‘ผๅธๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้€ฒ่กŒใฎ้€Ÿใ•ใฏ็—‡ไพ‹ใ”ใจใซๅคšๆง˜ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200453NANDO:1200430
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/089-201704-kojin.pdf
rdfs:label - "Right-sidedย ulcerativeย colitis" + "Lymphangioleiomyomatosis" @en
rdfs:label - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰" + "ใ‚Šใ‚“ใฑใฟใ‚ƒใใ‹ใ‚“ใใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00896
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/62https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157956.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/339
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200449http://nanbyodata.jp/ontology/NANDO_1100010
skos:altLabel - "segmental colitis" + "LAM" @en
skos:altLabel - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅˆ†็ฏ€ๅž‹๏ผ‰" + "LAM" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011705
skos:prefLabel - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰" + "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡" @ja
- - + - - + + - + + + + + + + + + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200454 +
http://nanbyodata.jp/ontology/NANDO_1200431 (rdf:type owl:Class @@ -35662,79 +42522,89 @@

hasNotificationNumber98hasNotificationNumber90
dcterms:description - "ๆถˆๅŒ–็ฎกใ‚’ไธปๅบงใจใ™ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡็—‡ๅ€™็พค๏ผˆEosinophilic Gastro-Intestinal Disorder๏ผšEGID๏ผ‰ใฏใ€ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž ๏ผˆใ“ใ“ใงใฏๆ—ฅๆœฌใซใŠใ‘ใ‚‹ Food-Protein Induced Enterocolitis Syndrome ใจใ„ใ†ๆ„ๅ‘ณใงN-FPIESใจๅ‘ผใถใ€‚๏ผ‰ใ€ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใ€ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸใฎๆ‚ฃ่€…ใฏใ€1990ๅนดๅฐๆœซใ‹ใ‚‰ๆ€ฅๆฟ€ใซๅข—ๅŠ ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€EGEใฏๆœฌ้‚ฆใซ็‰นใซๆ‚ฃ่€…ใŒๅคšใ„ใ€‚่จบๆ–ญๆณ•ใ€ๆฒป็™‚ๆณ•ใŒ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅคšใใฎๆ‚ฃ่€…ใŒ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž๏ผˆN-FPIES๏ผ‰ใงใฏ10๏ผ…ใฎๆ‚ฃ่€…ใฏใ€็”Ÿๅ‘ฝใซใ‹ใ‹ใ‚ใ‚‹้‡ๅคงใชๅˆไฝต็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใŸใ‚ใ€็ทŠๆ€ฅใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃ็—‡ไพ‹ใฎๅ ดๅˆใ€็—‡็Šถใฏไธ€็”Ÿ็ถšใใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใงใฏใ€ๅšฅไธ‹้šœๅฎณใฎใŸใ‚ใซๆ—ฅๅธธ็”ŸๆดปใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใจใจใ‚‚ใซใ€้•ทๆœŸ็ตŒ้Žไพ‹ใงใฏใ€้ฃŸ้“็‹ญ็ช„ใ‚’่ตทใ“ใ—่ฆณ่ก€็š„ใชๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏ่ƒƒ-ๅคง่…ธใซ่‡ณใ‚‹้‡่ฆใช่‡“ๅ™จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŒใ€ๆฌง็ฑณใงใฏ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญๆฒป็™‚็ ”็ฉถใŒ้€ฒใ‚“ใงใ„ใชใ„ใ€‚ๅคšใใฎๆ‚ฃ่€…ใ‚’ๆŠฑใˆใ‚‹ๆˆ‘ใŒๅ›ฝใง็ ”็ฉถใ‚’้€ฒๆญฉใ•ใ›ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚60๏ผ…็จ‹ๅบฆใฎไพ‹ใงๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งๅŒ–ใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ไพๅญ˜ๆ€งใจใชใ‚‹ใชใฉใ—ใฆ่–ฌๅ‰คๆฒป็™‚ใซใจใ‚‚ใชใ†ๆง˜ใ€…ใชๅ‰ฏไฝœ็”จใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ—ฅๆœฌใงใฏๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏใ€ไปฅๅ‰ใ‹ใ‚‰็—‡ไพ‹ๅ ฑๅ‘ŠใŒๅคšใ„ใŒใ€ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใฏๅฐ‘ใชใ„ใ€‚้€†ใซๆฌง็ฑณใงใฏๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใŒๅคšใใ€EGEใฏๅฐ‘ใชใ„ใ€‚ไธ–็•Œ็š„ใซEGE ใฎ่จบๆ–ญๆฒป็™‚ๆณ•ใซ้–ขใ™ใ‚‹็ ”็ฉถใฏ้…ใ‚Œใฆใ„ใ‚‹ใ€‚" + "้บไผๅญๅค‰็•ฐใŒๅŽŸๅ› ใง็ถฒ่†œใฎ่ฆ–็ดฐ่ƒžๅŠใณ่‰ฒ็ด ไธŠ็šฎ็ดฐ่ƒžใŒๅบƒ็ฏ„ใซๅค‰ๆ€งใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆๆœŸใซใฏใ€ๅคœ็›ฒใจ่ฆ–้‡Ž็‹ญ็ช„ใ‚’่‡ช่ฆšใ™ใ‚‹ใ€‚ๅพใ€…ใซ้€ฒ่กŒใ—ใ€่€ๅนดใซ่‡ณใฃใฆ็คพไผš็š„ๅคฑๆ˜Ž๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›็ด„0.1ไปฅไธ‹๏ผ‰ใจใชใ‚‹ไพ‹ใ‚‚ๅคšใ„ใŒใ€็”Ÿๆถฏ่‰ฏๅฅฝใช่ฆ–ๅŠ›ใ‚’ไฟใคไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้€ฒ่กŒใซๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚่ฆ–็ดฐ่ƒžใฎใ†ใกๆ†ไฝ“็ดฐ่ƒžใฎใฟใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใ€ๆ†ไฝ“็ดฐ่ƒžใจ้Œไฝ“็ดฐ่ƒžไธก่€…ใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใจ็งฐใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200454NANDO:1200431
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdf
rdfs:label - "Eosinophilic Gastro-Intestinal Disorder" + "Retinitis pigmentosa" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" + "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01782http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2967
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00527
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5388https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/337
- skos:altLabel - "Eosinophilic gastrointestinal disease" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100011
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018438http://purl.obolibrary.org/obo/MONDO_0019200
skos:prefLabel - "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200455 +
http://nanbyodata.jp/ontology/NANDO_1200432 (rdf:type owl:Class @@ -35742,67 +42612,67 @@

hasNotificationNumber98hasNotificationNumber90
dcterms:identifier1200455NANDO:1200432
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/098-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdf
rdfs:label - "Neonatal food-protein induced enterocolitis" + "Sporadic retinitis pigmentosa" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž" + "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ“ใฏใคใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3931https://www.nanbyou.or.jp/entry/337
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200454
- skos:altLabel - "N-FPIES" - @jahttp://nanbyodata.jp/ontology/NANDO_1200431
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž" + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰" @ja
- - + - - + + - + - + + "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200456 +
http://nanbyodata.jp/ontology/NANDO_1200433 (rdf:type owl:Class @@ -35810,77 +42680,67 @@

hasNotificationNumber98hasNotificationNumber90
dcterms:identifier1200456NANDO:1200433
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/098-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdf
rdfs:label - "Eosinophilic esophagitis" + "Autosomal dominant retinitis pigmentosa" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01361 + rdfs:label + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3934https://www.nanbyou.or.jp/entry/337
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200454
- skos:altLabel - "EoE" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005361http://nanbyodata.jp/ontology/NANDO_1200431
skos:prefLabel - "ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž" + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200457 +
http://nanbyodata.jp/ontology/NANDO_1200434 (rdf:type owl:Class @@ -35888,72 +42748,77 @@

hasNotificationNumber98hasNotificationNumber90
dcterms:identifier1200457NANDO:1200434
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/098-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdf
rdfs:label - "Eosinophilic gastroenteritis" + "Autosomal recessive retinitis pigmentosa" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž" + "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2967
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3934https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200454 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/337
- skos:altLabel - "EGE" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200431
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016129http://purl.obolibrary.org/obo/MONDO_0019200
skos:prefLabel - "ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž" + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200458 +
http://nanbyodata.jp/ontology/NANDO_1200435 (rdf:type owl:Class @@ -35961,84 +42826,87 @@

hasNotificationNumber99
- dcterms:description - "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinal Pseudo-Obstruction๏ผšCIIP๏ผ‰ใฏใ€้•ทๆœŸใซ่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›็ญ‰ใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๆฅใ™ๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Intestinal Pseudo-Obstruction๏ผšCIPO๏ผ‰ใซใฏใ€ๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง๏ผˆPrimary๏ผ‰ใ€ๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง๏ผˆSecondary๏ผ‰ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใซใฏใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใ‚„CIIPใ‚’้™คใ„ใŸใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…้กž็ธ็–พๆ‚ฃ็ญ‰ใŒใ‚ใ‚Šใ€ๅฐๅ…ๆœŸใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏ้‘‘ๅˆฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๆˆไบบใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏใ€็ถš็™บๆ€งใฎๅฝๆ€ง่…ธ้–‰ๅกžใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber90
dcterms:identifier1200458NANDO:1200435
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/099-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdf
rdfs:label - "Chronic Idiopathic Intestinal Pseudo-Obstruction" + "X-linked recessive retinitis pigmentosa" @en
rdfs:label - "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" + "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใˆใฃใใ™ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01276http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3215
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157771.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3555
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3960https://www.nanbyou.or.jp/entry/337
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200431
- skos:altLabel - "Chronic intestinal pseudo-obstruction" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010227
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017574http://purl.obolibrary.org/obo/MONDO_0010723
skos:prefLabel - "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200459 +
http://nanbyodata.jp/ontology/NANDO_1200436 (rdf:type owl:Class @@ -36046,91 +42914,77 @@

hasNotificationNumber100
- dcterms:description - "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พค๏ผˆๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡๏ผˆMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผšMMIHS๏ผ‰๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" - @jahasNotificationNumber90
dcterms:identifier1200459NANDO:1200436
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/100-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/090-201704-kojin.pdf
rdfs:label - "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome" + "Digenic retinitis pigmentosa" @en
rdfs:label - "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" + "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใซใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01869http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2967
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157683.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157773.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4064https://www.nanbyou.or.jp/entry/337
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013
- skos:altLabel - "Huge bladder short and small colon intestinal peristalsis deficiency" - @en
- skos:altLabel - "Megacystis microcolon intestinal hypoperistalsis syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_1200431
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007960http://purl.obolibrary.org/obo/MONDO_0019200
skos:prefLabel - "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" + "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200460 +
http://nanbyodata.jp/ontology/NANDO_1200437 (rdf:type owl:Class @@ -36138,79 +42992,89 @@

hasNotificationNumber101hasNotificationNumber91
dcterms:description - "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" + "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใฏใ€่‚้™่„ˆใฎไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚ๆœฌ้‚ฆใงใฏไธก่€…ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹็—…ๆ…‹ใŒๅคšใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ไธ‹่…ฟๆตฎ่…ซใ€ไธ‹่‚ข้™่„ˆ็˜คใ€่ƒธ่…นๅฃใฎไธŠ่กŒๆ€ง็šฎไธ‹้™่„ˆๆ€’ๅผตใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅคšใใฏ็™บ็—‡ๆ™‚ๆœŸใŒไธๆ˜Žใงๆ…ขๆ€งใฎ็ตŒ้Ž๏ผˆใ‚ขใ‚ธใ‚ขใซๅคšใ„๏ผ‰ใ‚’ใจใ‚Šใ€ใ†ใฃ่ก€ๆ€ง่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Šๆ€ฅๆ€ง็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆ๏ผˆๆฌง็ฑณใซๅคšใ„๏ผ‰ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ขใ‚ธใ‚ขใงใฏไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใŒๅคšใใ€ๆฌง็ฑณใงใฏ่‚้™่„ˆ้–‰ๅกžใŒๅคšใ„ใ€‚ๅˆ†้กžใจใ—ใฆใ€ๅŽŸ็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจ็ถš็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใŒใ‚ใ‚‹ใ€‚็—…็ŠถใŒ้€ฒ่กŒใ™ใ‚‹ใจ่‚็ดฐ่ƒž็™Œใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚้™่„ˆๆœซๆขขๆžใฎ้ž่ก€ๆ “ๆ€ง้–‰ๅกžใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹้™่„ˆ้–‰ๅกžๆ€ง็–พๆ‚ฃ๏ผˆvenoโ€occlusive disease๏ผ‰ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200460NANDO:1200437
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/101-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/091-201704-kojin.pdf
rdfs:label - "Congenital isolated hypoganglionosis" + "Budd-Chiari syndrome" @en
rdfs:label - "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" + "ใฐใฃใฉใƒปใใ‚ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01871http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3771
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157740.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01433
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198069.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3949https://www.nanbyou.or.jp/entry/317
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1100013
- skos:altLabel - "Intestinal ganglion cells insignificant disease" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010947
skos:prefLabel - "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" + "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200461 +
http://nanbyodata.jp/ontology/NANDO_1200438 (rdf:type owl:Class @@ -36218,77 +43082,91 @@

hasNotificationNumber102hasNotificationNumber92
dcterms:description - "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใจใƒ†ใ‚คใƒ“ใŒใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค๏ผ—็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“๏ผˆRubinstein-Taybi๏ผ‰็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚" + "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใจใฏใ€่‚ๅ†…ๆœซๆขข้–€่„ˆๆžใฎ้–‰ๅกžใ€็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚้€šๅธธใ€่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใฏใชใใ€่‚็ดฐ่ƒž็™Œใฎๆฏๅœฐใซใฏใชใ‚‰ใชใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€้–€่„ˆ่ก€ๆ “ใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅŽš็”ŸๅŠดๅƒ็œ็‰นๅฎš็–พๆ‚ฃ้–€่„ˆ่ก€่กŒ็•ฐๅธธ็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใฎ็ตๆžœใงใฏใ€็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ“ใ€็™บ็—‡ใฎใƒ”ใƒผใ‚ฏใฏ50ๆญณไปฃใงใ€ๅนณๅ‡ๅนด้ฝขใฏ47.0ๆญณ๏ผˆ็”ทๆ€ง39.7ๆญณใ€ๅฅณๆ€ง50.4ๆญณ๏ผ‰ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200461NANDO:1200438
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/102-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/092-201704-kojin.pdf
rdfs:label - "Rubinstein-Taybi syndrome" + "Idiopathic portal hypertension" @en
rdfs:label - "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" + "ใจใใฏใคใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‚ใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00504https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01686
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157778.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198073.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4067https://www.nanbyou.or.jp/entry/308
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100013
+ skos:altLabel + "Banti syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019188http://purl.obolibrary.org/obo/MONDO_0021969
skos:prefLabel - "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" + "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡" @ja
- - + - - + + - + - + + "ใ’ใ‚“ใฑใคใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200462 +
http://nanbyodata.jp/ontology/NANDO_1200439 (rdf:type owl:Class @@ -36296,89 +43174,93 @@

hasNotificationNumber103hasNotificationNumber93
dcterms:description - "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" + "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary biliary cholangitis๏ผšPBCใ€‚ๆ—ง็งฐ๏ผšๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰๏ผ‰ใฏ็—…ๅ› ใŒๆœชใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†ๆฑใ†ใฃๆปžใซไผดใ„่‚ๅฎŸ่ณช็ดฐ่ƒžใฎ็ ดๅฃŠใจ็ทš็ถญๅŒ–ใ‚’็”Ÿใ˜ใ€ๆœ€็ต‚็š„ใซใฏ่‚็กฌๅค‰ใ‹ใ‚‰่‚ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่ƒ†ๆฑใ†ใฃๆปžใซไผดใ†ใใ†็—’ๆ„Ÿใ€ๅŠใณ่‡ชๅทฑๆŠ—ไฝ“ใฎ๏ผ‘ใคใงใ‚ใ‚‹ๆŠ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆŠ—ไฝ“๏ผˆAnti-mitochondrial antibodies๏ผšAMA๏ผ‰ใฎ้™ฝๆ€งๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ไธญๅนดไปฅๅพŒใฎๅฅณๆ€งใซๅคšใ„ใ€‚่‡จๅบŠ็—‡็Šถใ‚‚ๅ…จใใฟใ‚‰ใ‚Œใชใ„็„ก็—‡ๅ€™ๆ€งPBCใฎ็—‡ไพ‹ใ‚‚ๅคšใใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏ้•ทๅนด็„ก็—‡็Šถใง็ตŒ้Žใ—ไบˆๅพŒใ‚‚ใ‚ˆใ„ใ€‚ใชใŠใ€ๆœฌ็–พๆ‚ฃใฏไปฅๅ‰ใ€ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ๆœฌ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸๅฝ“ๆ™‚ใฏใ€ๅคงๅคšๆ•ฐใฎ็—‡ไพ‹ใŒ่‚็กฌๅค‰ใพใง้€ฒ่กŒใ—ใŸๆฎต้šŽใง็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใŸใŸใ‚ใ€Œ่‚็กฌๅค‰ใ€ใจใ„ใ†่ชžๅฅใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€่จบๆ–ญใƒปๆฒป็™‚ๆŠ€่ก“ใฎ้€ฒๆญฉใ—ใŸ็พๅœจใงใฏใ€ใปใจใ‚“ใฉใฎๆ‚ฃ่€…ใŒ่‚็กฌๅค‰ใฎ็Šถๆ…‹ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€2016ๅนดใซๆ—ฅๆœฌ่‚่‡“ๅญฆไผšๅŠใณๆ—ฅๆœฌๆถˆๅŒ–ๅ™จ็—…ๅญฆไผšใซใŠใ„ใฆใ€ŒๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Žใ€ใธใฎ็—…ๅๅค‰ๆ›ดใŒๆฑบๅฎšใ•ใ‚ŒใŸใ€‚" @ja
dcterms:identifier1200462NANDO:1200439
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/103-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/093-201704-kojin.pdf
rdfs:label - "CFC Syndrome" + "Primary biliary cholangitis" @en
rdfs:label - "CFC็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=231 + rdfs:label + "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157709.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157694.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4095https://www.nanbyou.or.jp/entry/252
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100013
skos:altLabel - "Cardio-facio-cutaneous syndrome" + "PBC" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007265 + skos:altLabel + "Primary biliary cirrhosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015280http://purl.obolibrary.org/obo/MONDO_0005388
skos:prefLabel - "CFC็—‡ๅ€™็พค" + "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200463 +
http://nanbyodata.jp/ontology/NANDO_1200440 (rdf:type owl:Class @@ -36386,89 +43268,113 @@

hasNotificationNumber104hasNotificationNumber94
dcterms:description - "ๅ…ˆๅคฉ็š„ใชHRAS้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPSC๏ผ‰ใฏใ€่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใฎ็ทš็ถญๆ€ง็‹ญ็ช„ใ‚’็”Ÿใ˜ใ‚‹้€ฒ่กŒๆ€งใฎๆ…ขๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†็ฎก็‚Žใ€AIDSใฎ่ƒ†็ฎก้šœๅฎณใ€่ƒ†็ฎกๆ‚ชๆ€ง่…ซ็˜๏ผˆPSC่จบๆ–ญๅพŒๅŠใณๆ—ฉๆœŸ็™Œใฏไพ‹ๅค–๏ผ‰ใ€่ƒ†้“ใฎๆ‰‹่ก“ใ‚„ๅค–ๅ‚ทใ€็ท่ƒ†็ฎก็ต็Ÿณใ€ๅ…ˆๅคฉๆ€ง่ƒ†้“็•ฐๅธธใ€่…้ฃŸๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ€่ƒ†็ฎกใฎ่™š่ก€ๆ€ง็‹ญ็ช„ใ€floxuridineๅ‹•ๆณจใซใ‚ˆใ‚‹่ƒ†็ฎก้šœๅฎณใ‚„็‹ญ็ช„ใซไผดใ†ใ‚‚ใฎใฏใ€๏ผ’ๆฌกๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใจใ—ใฆ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใซไผดใ†ใ‚‚ใฎใ‚’ๅซใ‚ใฆใ€IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ‚‚้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚2012ๅนดใฎๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใซใ‚ˆใ‚Œใฐใ€้ ปๅบฆใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ็—‡ๅนด้ฝขใฏ20ๆญณใจ60ๆญณไปฃใฎ๏ผ’ๅณฐๆ€งใงใ‚ใ‚‹ใ€‚่‚ๅ†…่‚ๅค–่ƒ†็ฎกไธกๆ–นใฎ็ฝนๆ‚ฃไพ‹ใŒๅคšใใ€ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฎๅˆไฝตใ‚’34๏ผ…ใซใ€่ƒ†็ฎก็™Œใฎๅˆไฝตใ‚’7.3๏ผ…ใซ่ชใ‚ใŸใ€‚" @ja
dcterms:identifier1200463NANDO:1200440
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/104-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/094-201704-kojin.pdf
rdfs:label - "Costello's Syndrome" + "Primary sclerosing cholangitis" @en
rdfs:label - "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2004http://nanbyodata.jp/ontology/NANDO_2200929
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01747http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9460
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157703.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01684
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4085https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157691.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3968
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100013
skos:altLabel - "Costello syndrome" + "PSC" @en
+ skos:altLabel + "PSC" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009026http://purl.obolibrary.org/obo/MONDO_0013433
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018646
skos:prefLabel - "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200464 +
http://nanbyodata.jp/ontology/NANDO_1200441 (rdf:type owl:Class @@ -36476,82 +43382,96 @@

hasNotificationNumber105hasNotificationNumber95
dcterms:description - "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ… 20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅฟƒๅฅ‡ๅฝขใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”้…ๆปžใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใฏใ€่‚็ดฐ่ƒž้šœๅฎณใฎๆˆ็ซ‹ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹่‚็‚Žใงใ‚ใ‚Šใ€ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅŽŸๅ‰‡็š„ใซใฏๆ—ข็Ÿฅใฎ่‚็‚Žใ‚ฆใ‚คใƒซใ‚นใ€ใ‚ขใƒซใ‚ณใƒผใƒซใ€่–ฌ็‰ฉใซใ‚ˆใ‚‹่‚้šœๅฎณใ€ๅŠใณไป–ใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซๅŸบใฅใ่‚้šœๅฎณใฏ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€ๆฒป็™‚ใซ้š›ใ—ๅ…็–ซๆŠ‘ๅˆถๅ‰คใ€็‰นใซใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใ‚คใƒ‰ใŒ่‘—ๅŠนใ‚’ๅฅใ™ใ€‚ไธ€ๆ–นใ€ๆœ€่ฟ‘ใฎ่ชฟๆŸปใซใ‚ˆใ‚Šใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใฎๅญ˜ๅœจใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ60ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ€ๅณฐๆ€งใ‚’็คบใ—ใ€ๅคšใใฏไธญๅนดไปฅ้™ใฎ็™บ็—‡ใงใ‚ใ‚Šใ€ๆœ€่ฟ‘้ซ˜้ฝขๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ–ใงๅฅณๆ€งใซๅคšใ„ใ€‚" @ja
dcterms:identifier1200464NANDO:1200441
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/105-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/095-201704-kojin.pdf
rdfs:label - "CHARGE syndrome" + "Autoimmune hepatitis" @en
rdfs:label - "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1942http://nanbyodata.jp/ontology/NANDO_2200928
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00556https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01685
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157954.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157712.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4138https://www.nanbyou.or.jp/entry/268
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100013
+ skos:altLabel + "AIH" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008965http://purl.obolibrary.org/obo/MONDO_0016264
skos:prefLabel - "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“๏ผˆใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200465 +
http://nanbyodata.jp/ontology/NANDO_1200442 (rdf:type owl:Class @@ -36559,84 +43479,72 @@

hasNotificationNumber106
- dcterms:description - "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ๏ผˆCryopyrin๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ๏ผˆinflammasome๏ผ‰ใ‚’ไป‹ใ—ใŸใƒ—ใƒญใ‚ซใ‚นใƒ‘ใƒผใ‚ผ-๏ผ‘๏ผˆprocaspase-1๏ผ‰ใฎๆดปๆ€งๅŒ–ใซใ‚ˆใ‚‹IL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปฝ็—‡ๅž‹ใฎๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พค๏ผˆFamilial cold autoinflammatorysyndrome๏ผšFCAS๏ผ‰ใ€ไธญ็ญ‰็—‡ใฎใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค๏ผˆMucke-Wells syndrome๏ผšMWS๏ผ‰ใ€้‡็—‡ๅž‹ใฎๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค๏ผˆChronic infantile neurologic cutaneous, and articular syndrome๏ผšCINCA็—‡ๅ€™็พค)๏ผๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ๏ผˆNeonatal onset multisystem inflammatory disease๏ผšNOMID๏ผ‰ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ๆ˜Ž็ขบใซ็—…ๅž‹ใ‚’ๅŒบๅˆฅใงใใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใซใŠใ‘ใ‚‹ๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ100ไบบ็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใŒๅคšใ„ใŒใ€ๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚็™บ็—‡ใซใŠใ‘ใ‚‹็”ทๅฅณๅทฎใฏใชใ„ใ€‚" - @jahasNotificationNumber95
dcterms:identifier1200465NANDO:1200442
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/095-201704-kojin.pdf
rdfs:label - "Cryopyrin-associated periodic syndrome" + "Typical autoimmune hepatitis" @en
rdfs:label - "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00282 + rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157712.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3994https://www.nanbyou.or.jp/entry/268
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004
- skos:altLabel - "Cryopyrin associated periodic fever syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_1200441
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016168http://purl.obolibrary.org/obo/MONDO_0016264
skos:prefLabel - "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰" @ja
- - + - - + + - + - + + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“๏ผˆใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰" + @ja-Hira - - + + - + - + - - - - - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200466 +
http://nanbyodata.jp/ontology/NANDO_1200443 (rdf:type owl:Class @@ -36644,89 +43552,67 @@

hasNotificationNumber106hasNotificationNumber95
dcterms:identifier1200466NANDO:1200443
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/095-201704-kojin.pdf
rdfs:label - "Familial cold autoinflammatorysyndrome" + "Atypical autoimmune hepatitis" @en
rdfs:label - "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=315 + rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157712.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3994https://www.nanbyou.or.jp/entry/268
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200465
- skos:altLabel - "FCAS" - @en
- skos:altLabel - "FCAS" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007349
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018768http://nanbyodata.jp/ontology/NANDO_1200441
skos:prefLabel - "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น" + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200467 +
http://nanbyodata.jp/ontology/NANDO_1200444 (rdf:type owl:Class @@ -36734,89 +43620,103 @@

hasNotificationNumber106hasNotificationNumber96
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏๅŽŸๅ› ไธๆ˜Žใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ๆฝฐ็˜ใ‚„็ทš็ถญๅŒ–ใ‚’ไผดใ†่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‹ใ‚‰ใชใ‚Šใ€ๆถˆๅŒ–็ฎกใฎใฉใฎ้ƒจไฝใซใ‚‚่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกไปฅๅค–๏ผˆ็‰นใซ็šฎ่†š๏ผ‰ใซใ‚‚็—…ๅค‰ใŒ่ตทใ“ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅฝ“ๅˆใฎๅ ฑๅ‘Šใงใฏๅ›ž่…ธๆœซ็ซฏใ‚’ไพตใ™๏ผˆๅ›ž่…ธๆœซ็ซฏ็‚Ž๏ผ‰ใจ่จ˜่ผ‰ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎๆถˆๅŒ–็ฎกใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ่ตทใ“ใ‚Šใ†ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚่‡จๅบŠๅƒใฏ็—…ๅค‰ใฎ้ƒจไฝใ‚„็ฏ„ๅ›ฒใซใ‚ˆใฃใฆๅคšๅฝฉใงใ‚ใ‚‹ใ€‚็™บ็†ฑใ€ๆ „้คŠ้šœๅฎณใ€่ฒง่ก€ใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚„้–ข็ฏ€็‚Žใ€่™นๅฝฉ็‚Žใ€่‚้šœๅฎณใชใฉใฎๅ…จ่บซๆ€งๅˆไฝต็—‡ใŒ่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚" + @ja
dcterms:identifier1200467NANDO:1200444
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdf
rdfs:label - "Muckle-Wells syndrome" + "Crohn's disease" @en
rdfs:label - "Muckle-Wells็—‡ๅ€™็พค" + "ใใ‚ใƒผใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒญใƒผใƒณ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2549http://nanbyodata.jp/ontology/NANDO_2200921
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00286
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3994https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/219
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200465http://nanbyodata.jp/ontology/NANDO_1100013
skos:altLabel - "MWS" + "Crohn Disease" @en
skos:altLabel - "MWS" + "Crohn็—…" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008633
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009564http://purl.obolibrary.org/obo/MONDO_0005011
skos:prefLabel - "Muckle-Wells็—‡ๅ€™็พค" + "ใ‚ฏใƒญใƒผใƒณ็—…" @ja
- - + - - + + - + - + + "small bowel Crohn disease" + @en + "ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200468 +
http://nanbyodata.jp/ontology/NANDO_1200445 (rdf:type owl:Class @@ -36824,91 +43724,86 @@

hasNotificationNumber106hasNotificationNumber96
dcterms:identifier1200468NANDO:1200445
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdf
rdfs:label - "CINCA็—‡ๅ€™็พค" - @ja
rdfs:label - "Chronic infantileย neurological cutaneous articular syndrome" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4535 + rdfs:label + "ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3994https://www.nanbyou.or.jp/entry/219
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200465http://nanbyodata.jp/ontology/NANDO_1200444
skos:altLabel - "CINCA syndrome" + "Small bowel Crohn's disease" @en
skos:altLabel - "NOMID" + "ๅฐ่…ธๅž‹Crohn็—…" @ja
- skos:altLabel - "Neonatal Onset Multisystem Inflammatory Disease" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011776http://purl.obolibrary.org/obo/MONDO_0005539
skos:prefLabel - "CINCA็—‡ๅ€™็พค" + "ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" @ja
- - + - - - - - - + + - + + + + + - - - - + "ใ ใ„ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - + - +
http://nanbyodata.jp/ontology/nando#1200469 +
http://nanbyodata.jp/ontology/NANDO_1200446 (rdf:type owl:Class @@ -36916,89 +43811,77 @@

hasNotificationNumber107
- dcterms:description - "16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ€ๅŽŸๅ› ไธๆ˜Žใฎ๏ผ–้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๆ…ขๆ€งใฎ้–ข็ฏ€็‚Žใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซ็พ่ฑกใ‚’ๅŸบ็›คใจใ—ใ€้€ฒ่กŒๆ€งใƒป็ ดๅฃŠๆ€งใฎ้–ข็ฏ€็‚Žใ‚’่ชใ‚ใ€ใถใฉใ†่†œ็‚Ž๏ผˆ่™นๅฝฉ็‚Ž๏ผ‰ใ€็šฎ็–นใ€่‚่„พ่…ซใ€ๆผฟ่†œ็‚Žใ€็™บ็†ฑใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใชใฉใ•ใพใ–ใพใช้–ข็ฏ€ๅค–็—‡็Šถใ‚’ไผดใ†ใ€‚ๅ…จ่บซ็—‡็Šถใฎๅผทใ„ๅ…จ่บซๅž‹ใจใ€ๅ…จ่บซ็—‡็Šถใฎใชใ„้–ข็ฏ€ๅž‹ใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber96
dcterms:identifier1200469NANDO:1200446
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdf
rdfs:label - "Systemic-Onset Juvenile Idiopathic Arthritis" + "Colonic Crohn's disease" @en
rdfs:label - "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9464
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01672 + rdfs:label + "ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198074.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3946https://www.nanbyou.or.jp/entry/219
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004
- skos:altLabel - "Juvenile idiopathic arthritis" - @enhttp://nanbyodata.jp/ontology/NANDO_1200444
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011429http://purl.obolibrary.org/obo/MONDO_0005011
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019434http://purl.obolibrary.org/obo/MONDO_0005532
skos:prefLabel - "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + "ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200470 +
http://nanbyodata.jp/ontology/NANDO_1200447 (rdf:type owl:Class @@ -37006,65 +43889,79 @@

hasNotificationNumber107hasNotificationNumber96
dcterms:identifier1200470NANDO:1200447
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/107-01-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdf
rdfs:label - "Systemic juvenile idiopathic arthritis" + "Crohn ileocolitis" @en
rdfs:label - "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + "ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ ใ„ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198074.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3946https://www.nanbyou.or.jp/entry/219
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200469http://nanbyodata.jp/ontology/NANDO_1200444
+ skos:altLabel + "Crohn's ileocolitis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019434http://purl.obolibrary.org/obo/MONDO_0005534
skos:prefLabel - "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + "ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200471 +
http://nanbyodata.jp/ontology/NANDO_1200448 (rdf:type owl:Class @@ -37072,60 +43969,67 @@

hasNotificationNumber107hasNotificationNumber96
dcterms:identifier1200471NANDO:1200448
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/107-02-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/096-201704-kojin.pdf
rdfs:label - "Articular-typeย juvenile idiopathicย arthritis" + "Atypical Crohn's disease" @en
rdfs:label - "้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + "ใจใใ—ใ‚…ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198074.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157688.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3946https://www.nanbyou.or.jp/entry/81
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200469http://nanbyodata.jp/ontology/NANDO_1200444
skos:prefLabel - "้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + "็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200472 +
http://nanbyodata.jp/ontology/NANDO_1200449 (rdf:type owl:Class @@ -37133,82 +44037,89 @@

hasNotificationNumber108hasNotificationNumber97
dcterms:description - "่ฟ‘ๅนดใ€ๅ›ฝๅ†…ๅค–ใงๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็™บ็†ฑใ€็šฎ็–นใ€็ญ‹่‚‰็—›ใ€้–ข็ฏ€็—›ใ€ๆผฟ่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ™‚ใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TNFๅ—ๅฎนไฝ“๏ผ‘ๅž‹๏ผˆTNF๏ผฒSF1A๏ผ‰ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใŒใ€่ฉณใ—ใ„็—…ๆ…‹ใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Žใ‚„ๆˆไบบใ‚นใƒใƒซ็—…ใจ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€้‘‘ๅˆฅใŒ้‡่ฆใจใชใ‚‹ใ€‚" + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฏใ€ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅคง่…ธใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ€‚ๅŒป็ง‘ๅญฆๅ›ฝ้š›็ต„็น”ๅง”ๅ“ก๏ผˆCIOMS๏ผ‰ใงใฏใ€Œไธปใจใ—ใฆ็ฒ˜่†œใจ็ฒ˜่†œไธ‹ๅฑคใ‚’ไพตใ™ใ€ๅคง่…ธ็‰นใซ็›ด่…ธใฎ็‰น็™บๆ€งใ€้ž็‰น็•ฐ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€‚30ๆญณไปฅไธ‹ใฎๆˆไบบใซๅคšใ„ใŒใ€ๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๅนด้ฝขๅฑคใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€ๅ…็–ซ็—…็†ๅญฆ็š„ๆฉŸๅบใ‚„ๅฟƒ็†ๅญฆ็š„่ฆๅ› ใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้€šๅธธ่ก€ๆ€งไธ‹็—ขใจ็จฎใ€…ใฎ็จ‹ๅบฆใฎๅ…จ่บซ็—‡็Šถใ‚’็คบใ™ใ€‚้•ทๆœŸใซใ‚ใŸใ‚Šใ€ใ‹ใคๅคง่…ธๅ…จไฝ“ใ‚’ไพตใ™ๅ ดๅˆใซใฏๆ‚ชๆ€งๅŒ–ใฎๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใฏๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‹ใ‚‰้•ทๆœŸ้–“ใฎๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" @ja
dcterms:identifier1200472NANDO:1200449
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/108-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdf
rdfs:label - "TNF receptor-associated periodic syndrome" + "Ulcerative colitis" @en
rdfs:label - "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" + "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=723http://nanbyodata.jp/ontology/NANDO_2200920
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00912https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01466
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157741.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4033https://www.nanbyou.or.jp/entry/218
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100013
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007727http://purl.obolibrary.org/obo/MONDO_0005101
skos:prefLabel - "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใœใ‚“ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200473 +
http://nanbyodata.jp/ontology/NANDO_1200450 (rdf:type owl:Class @@ -37216,77 +44127,72 @@

hasNotificationNumber109
- dcterms:description - "ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome๏ผšHUS๏ผ‰ใฏใ€ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆ€ฅๆ€ง่…Ž้šœๅฎณใ‚’๏ผ“ๅพดๅ€™ใจใ™ใ‚‹ใ€ๅฐๅ…ใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚HUSใฎ็ด„90๏ผ…ใฏไธ‹็—ขใ‚’ไผดใ„ใ€O157็ญ‰ใฎ็—…ๅŽŸๆ€งๅคง่…ธ่Œใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไธ€ๆ–นใงใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‰ใชใ„HUSใŒ็ด„10๏ผ…ๅญ˜ๅœจใ—ใ€ใใ‚Œใ‚‰ใฏ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆthrombotic microangiopathy๏ผšTMA๏ผ‰ใฎไธญใงใ‚‚ใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‹HUSใ€ADAMTS13ๆดปๆ€งไฝŽไธ‹๏ผˆ๏ผœ10๏ผ…๏ผ‰ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผš TTP๏ผ‰ใ€่–ฌๅ‰คใƒป็งปๆคใชใฉใซใ‚ˆใ‚‹ใƒ‹ๆฌกๆ€งTMAใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใจใ—ใฆใ€้žๅ…ธๅž‹๏ผˆatypical,a๏ผ‰HUSใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅŽŸๆ€งๅคง่…ธ่Œใซใ‚ˆใ‚‹HUSใฏๆฏ”่ผƒ็š„ไบˆๅพŒใŒ่‰ฏใ„ใฎใซๅฏพใ—ใ€aHUSใงใฏ่‡ดๆญป็Ž‡ใŒ็ด„25๏ผ…ใจไบˆๅพŒใŒ้žๅธธใซๆ‚ชใ„ใ€‚ๆตทๅค–ใงใฏใ€ๆฏŽๅนด100ไธ‡ไบบใ‚ใŸใ‚Šๆˆไบบใง๏ผ’ไบบ็™บ็—‡ใ€ๅฐๅ…ใงใฏ100ไธ‡ไบบใซ๏ผ—ไบบ็™บ็—‡ใจๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšๅˆๅŒๅง”ๅ“กไผšใซใ‚ˆใ‚‹2013ๅนดใฎaHUSใฎ่จบๆ–ญๅŸบๆบ–ใงใฏใ€aHUSใ‚’ใ€Œ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆTMA๏ผ‰ใ‹ใ‚‰ๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSๅŠใณADAMTS13ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPใ‚’้™คใ„ใŸใ‚‚ใฎใ€ใจใ—ใ€ใใฎไธญใฎไธ€้ƒจใซๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎใ€Œ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใ€ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšใซใ‚ˆใ‚‹ใ€Œ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆaHUS๏ผ‰่จบ็™‚ใ‚ฌใ‚คใƒ‰2015ใ€ใซใŠใ‘ใ‚‹่จบๆ–ญๅŸบๆบ–ใฎๆ”น่จ‚็‰ˆใงใฏใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใฎใฟใŒๆ–ฐใŸใซaHUS๏ผˆ่ฃœไฝ“้–ข้€ฃHUS๏ผ‰ใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚TMAใฎใ†ใกใ€STEC-HUSใ€TTPใ€ไบŒๆฌกๆ€งTMAใ‚’้‘‘ๅˆฅใ—ใˆใŸๆ‚ฃ่€…ใง่‡จๅบŠ็š„ใซaHUSใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„aHUSๆ‚ฃ่€…ใซใŠใ„ใฆใ€ใ•ใ‚‰ใซaHUSใฎ็‰น็•ฐ็š„ใชๆคœๆŸปใ‚’่กŒใ„ใ€ๆ—ข็Ÿฅ่ฃœไฝ“้–ข้€ฃใฎ็—…็š„้บไผๅญๅค‰็•ฐไพ‹ใ€ๆŠ—Hๅ› ๅญๆŠ—ไฝ“้™ฝๆ€งไพ‹ใŒaHUS็ขบๅฎš่จบๆ–ญไพ‹ใงใ‚ใ‚‹ใ€‚ๅŒป็™‚่ฒปๅŠฉๆˆใฎๅฏพ่ฑกใจใ™ในใ็–พ็—…ใฎ็ฏ„ๅ›ฒใฏใ€2015ๅนดใฎๅŸบๆบ–ใซใ‚ˆใ‚‹่‡จๅบŠ็š„aHUS่จบๆ–ญไพ‹ใ€ๅˆใฏaHUS็ขบๅฎš่จบๆ–ญไพ‹ใฎใฟใซๅฏพใ—ใฆใงใ‚ใ‚Šใ€ๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber97
dcterms:identifier1200473NANDO:1200450
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/109-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdf
rdfs:label - "Atypical hemolytic uremic syndrome" + "Pan-ulcerative colitis" @en
rdfs:label - "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01434 + rdfs:label + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157758.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3846https://www.nanbyou.or.jp/entry/218
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1200449
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016244http://purl.obolibrary.org/obo/MONDO_0005536
skos:prefLabel - "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200474 +
http://nanbyodata.jp/ontology/NANDO_1200451 (rdf:type owl:Class @@ -37294,60 +44200,72 @@

hasNotificationNumber109hasNotificationNumber97
dcterms:identifier1200474NANDO:1200451
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/109-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdf
rdfs:label - "congenital atypical hemolytic uremicย syndrome" + "Left-sided colitis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใฒใ ใ‚ŠใŒใ‚ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157758.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3846https://www.nanbyou.or.jp/entry/218
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200473http://nanbyodata.jp/ontology/NANDO_1200449
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005533
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200475 +
http://nanbyodata.jp/ontology/NANDO_1200452 (rdf:type owl:Class @@ -37355,67 +44273,67 @@

hasNotificationNumber109hasNotificationNumber97
dcterms:identifier1200475NANDO:1200452
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/109-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdf
rdfs:label - "acquired aHUS" + "Ulcerative proctitis" @en
rdfs:label - "ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใกใ‚‡ใใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157758.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3846https://www.nanbyou.or.jp/entry/62
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200473
- skos:altLabel - "acquired atypical hemolytic uremicย syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_1200449
skos:prefLabel - "ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - - - - - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200476 +
http://nanbyodata.jp/ontology/NANDO_1200453 (rdf:type owl:Class @@ -37423,82 +44341,81 @@

hasNotificationNumber110
- dcterms:description - "ๆœฌ็—‡ใฏใ€NOD2้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใซใฆ็™บ็—‡ใ™ใ‚‹ๅ…จ่บซๆ€ง่‚‰่Šฝ่…ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏNOD2้บไผๅญใฎexon3๏ผˆNOD้ ˜ๅŸŸ๏ผ‰ใซๅค‰็•ฐใ‚’่ชใ‚ใ€in vitroใซใŠใ„ใฆNF-ฮบ Bใฎ่‡ช็™บ็š„ใช่ปขๅ†™ไบข้€ฒใ‚’ๅฐŽใๆฉŸ่ƒฝไบข้€ฒๅค‰็•ฐใงใ‚ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ‚‚ใฎใฎใ€ๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็šฎ่†š็—‡็Šถใƒป้–ข็ฏ€็—‡็Šถใƒป็œผ็—‡็Šถใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ใŒใ€ๅคšใใฎๅ ดๅˆ็—‡็Šถใฏใ“ใฎ้ †ใซๅ‡บ็พใ—ใ€๏ผ“ไธปๅพดๅ…จใฆใŒๅ‡บๆƒใ†ใซใฏๆ™‚้–“ใŒใ‹ใ‹ใ‚‹ใ€‚็ฝนๆ‚ฃ้ƒจไฝใฎ็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏ่‚‰่Šฝ่…ซ๏ผˆ้žไนพ้…ชๆ€งใ€้กžไธŠ็šฎ็ดฐ่ƒžๆ€ง๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber97
dcterms:identifier1200476NANDO:1200453
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/110-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/097-201804-kojin.pdf
rdfs:label - "Blau syndrome" + "Right-sided ulcerative colitis" @en
rdfs:label - "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" + "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใฟใŽใŒใ‚ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1501https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157672.docx
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00285
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157763.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3826https://www.nanbyou.or.jp/entry/218
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200449
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008523 + skos:altLabel + "Segmental colitis" + @en
+ skos:altLabel + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅˆ†็ฏ€ๅž‹๏ผ‰" + @ja
skos:prefLabel - "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰" @ja
- - + - - + + - + - - + + + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira - + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200477 +
http://nanbyodata.jp/ontology/NANDO_1200454 (rdf:type owl:Class @@ -37506,77 +44423,98 @@

hasNotificationNumber111hasNotificationNumber98
dcterms:description - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฏใ€้ชจๆ ผ็ญ‹ใฎๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใชใ„ใ—ไนณๅ…ๆœŸใ‹ใ‚‰็ญ‹ๅŠ›ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’็คบใ—ใ€ใพใŸ็ญ‹็—‡็Šถไปฅๅค–ใซใ‚‚ๅ‘ผๅธ้šœๅฎณใ€ๅฟƒๅˆไฝต็—‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅดๅผฏใ€็™บ่‚ฒใƒป็™บ้”ใฎ้…ใ‚Œ็ญ‰ใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚็ตŒ้Žใฏ็ทฉๅพใชใŒใ‚‰้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ใฏใ€่ก€ๆธ…ใ‚ฏใƒฌใ‚ขใƒใƒณใ‚ญใƒŠใƒผใ‚ผๅ€คใฎๆญฃๅธธใ‹ใ‚‰่ปฝๅบฆไธŠๆ˜‡ใ‚’ใ€็ญ‹้›ปๅ›ณใงใฏๆญฃๅธธใชใ„ใ—็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ—ใ€้ชจๆ ผ็ญ‹็”ปๅƒใงใฏ่Ž็ธฎใ€่„‚่‚ชๅค‰ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ‚Œใ‚‰ๆ‰€่ฆ‹ใฎใฟใงใฏใ€ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅŠใณไปฃ่ฌๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธ€้ƒจใจใฎๅŒบๅˆฅใŒใคใ‹ใชใ„ใ€‚ใใฎใŸใ‚ใ€็ขบๅฎš่จบๆ–ญใซใฏ็ญ‹็”Ÿๆคœใซใ‚ˆใ‚‹็ญ‹็—…็†ๆคœๆŸปใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹็—…็†ๅƒใซๅŸบใฅใใ€็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธ็—…ใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใจใ„ใฃใŸ็—…ๅž‹ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ไธญใซใฏ็‰นๅพด็š„็—…็†ๆ‰€่ฆ‹ใ‚’็คบใ•ใšใ€้ž็‰น็•ฐ็š„็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ™ใฎใฟใงๅˆ†้กžไธ่ƒฝใช้ž็‰น็•ฐ็š„ใชๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ„็—…ๅž‹ใง่ค‡ๆ•ฐใฎ้บไผๅญใฎ้–ขไธŽใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€้‡็—‡ๅบฆใจ็—…็†ๅƒใ€้บไผๅญๅค‰็•ฐใจใซๅฟ…ใšใ—ใ‚‚็›ธ้–ขใŒใ‚ใ‚‹ใ‚ใ‘ใงใฏใชใ„ใ€‚" + "ๆถˆๅŒ–็ฎกใ‚’ไธปๅบงใจใ™ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡็—‡ๅ€™็พค๏ผˆEosinophilic Gastro-Intestinal Disorder๏ผšEGID๏ผ‰ใฏใ€ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž ๏ผˆใ“ใ“ใงใฏๆ—ฅๆœฌใซใŠใ‘ใ‚‹ Food-Protein Induced Enterocolitis Syndrome ใจใ„ใ†ๆ„ๅ‘ณใงN-FPIESใจๅ‘ผใถใ€‚๏ผ‰ใ€ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใ€ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸใฎๆ‚ฃ่€…ใฏใ€1990ๅนดๅฐๆœซใ‹ใ‚‰ๆ€ฅๆฟ€ใซๅข—ๅŠ ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€EGEใฏๆœฌ้‚ฆใซ็‰นใซๆ‚ฃ่€…ใŒๅคšใ„ใ€‚่จบๆ–ญๆณ•ใ€ๆฒป็™‚ๆณ•ใŒ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅคšใใฎๆ‚ฃ่€…ใŒ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž๏ผˆN-FPIES๏ผ‰ใงใฏ10๏ผ…ใฎๆ‚ฃ่€…ใฏใ€็”Ÿๅ‘ฝใซใ‹ใ‹ใ‚ใ‚‹้‡ๅคงใชๅˆไฝต็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใŸใ‚ใ€็ทŠๆ€ฅใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃ็—‡ไพ‹ใฎๅ ดๅˆใ€็—‡็Šถใฏไธ€็”Ÿ็ถšใใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใงใฏใ€ๅšฅไธ‹้šœๅฎณใฎใŸใ‚ใซๆ—ฅๅธธ็”ŸๆดปใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใจใจใ‚‚ใซใ€้•ทๆœŸ็ตŒ้Žไพ‹ใงใฏใ€้ฃŸ้“็‹ญ็ช„ใ‚’่ตทใ“ใ—่ฆณ่ก€็š„ใชๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏ่ƒƒ-ๅคง่…ธใซ่‡ณใ‚‹้‡่ฆใช่‡“ๅ™จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŒใ€ๆฌง็ฑณใงใฏ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญๆฒป็™‚็ ”็ฉถใŒ้€ฒใ‚“ใงใ„ใชใ„ใ€‚ๅคšใใฎๆ‚ฃ่€…ใ‚’ๆŠฑใˆใ‚‹ๆˆ‘ใŒๅ›ฝใง็ ”็ฉถใ‚’้€ฒๆญฉใ•ใ›ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚60๏ผ…็จ‹ๅบฆใฎไพ‹ใงๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งๅŒ–ใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ไพๅญ˜ๆ€งใจใชใ‚‹ใชใฉใ—ใฆ่–ฌๅ‰คๆฒป็™‚ใซใจใ‚‚ใชใ†ๆง˜ใ€…ใชๅ‰ฏไฝœ็”จใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ—ฅๆœฌใงใฏๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏใ€ไปฅๅ‰ใ‹ใ‚‰็—‡ไพ‹ๅ ฑๅ‘ŠใŒๅคšใ„ใŒใ€ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใฏๅฐ‘ใชใ„ใ€‚้€†ใซๆฌง็ฑณใงใฏๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใŒๅคšใใ€EGEใฏๅฐ‘ใชใ„ใ€‚ไธ–็•Œ็š„ใซEGE ใฎ่จบๆ–ญๆฒป็™‚ๆณ•ใซ้–ขใ™ใ‚‹็ ”็ฉถใฏ้…ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200477NANDO:1200454
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf + rdfs:label + "Eosinophilic gastrointestinal disorders" + @en
rdfs:label - "Congenital myopathy" - @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01810http://nanbyodata.jp/ontology/NANDO_2200807
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01782
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3935
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100013
+ skos:altLabel + "EGID" + @en
+ skos:altLabel + "Eosinophilic gastrointestinal disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019952http://purl.obolibrary.org/obo/MONDO_0018438
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" @ja
- - + - - + + - + - + + "ใ—ใ‚“ใ›ใ„ใ˜ใซใ‚…ใ†ใ˜ใ—ใ‚‡ใใ‚‚ใคใŸใ‚“ใฑใใ‚†ใ†ใฏใคใ„ใกใ‚‡ใ†ใˆใ‚“" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200478 +
http://nanbyodata.jp/ontology/NANDO_1200455 (rdf:type owl:Class @@ -37584,70 +44522,79 @@

hasNotificationNumber111hasNotificationNumber98
dcterms:identifier1200478NANDO:1200455
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/098-01-201704-kojin.pdf
rdfs:label - "Nemaline myopathy" + "Neonatal food-protein induced enterocolitis" @en
rdfs:label - "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00698 + rdfs:label + "ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.nanbyou.or.jp/entry/3932
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200477http://nanbyodata.jp/ontology/NANDO_1200454
+ skos:altLabel + "N-FPIES" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018958http://purl.obolibrary.org/obo/MONDO_0100008
skos:prefLabel - "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž" @ja
- - + - - + + - + - + + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใใฉใ†ใˆใ‚“" + @ja-Hira - - + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200479 +
http://nanbyodata.jp/ontology/NANDO_1200456 (rdf:type owl:Class @@ -37655,75 +44602,91 @@

hasNotificationNumber111hasNotificationNumber98
dcterms:identifier1200479NANDO:1200456
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/098-02-201704-kojin.pdf
rdfs:label - "Central core disease" + "Eosinophilic esophagitis" @en
rdfs:label - "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=262 + rdfs:label + "ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00699https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01361
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.nanbyou.or.jp/entry/3935
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200477http://nanbyodata.jp/ontology/NANDO_1200454
+ skos:altLabel + "EoE" + @en
+ skos:altLabel + "EoE" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007294http://purl.obolibrary.org/obo/MONDO_0005361
skos:prefLabel - "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" + "ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž" @ja
- - + - - + + - + - + + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ„ใกใ‚‡ใ†ใˆใ‚“" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200480 +
http://nanbyodata.jp/ontology/NANDO_1200457 (rdf:type owl:Class @@ -37731,70 +44694,86 @@

hasNotificationNumber111hasNotificationNumber98
dcterms:identifier1200480NANDO:1200457
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/098-02-201704-kojin.pdf
rdfs:label - "Minicore myopathy" + "Eosinophilic gastroenteritis" @en
rdfs:label - "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2698 + rdfs:label + "ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157697.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.nanbyou.or.jp/entry/3935
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200477http://nanbyodata.jp/ontology/NANDO_1200454
+ skos:altLabel + "EGE" + @en
+ skos:altLabel + "EGE" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009712http://purl.obolibrary.org/obo/MONDO_0016129
skos:prefLabel - "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" + "ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200481 +
http://nanbyodata.jp/ontology/NANDO_1200458 (rdf:type owl:Class @@ -37802,65 +44781,96 @@

hasNotificationNumber111hasNotificationNumber99
+ dcterms:description + "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinal Pseudo-Obstruction๏ผšCIIP๏ผ‰ใฏใ€้•ทๆœŸใซ่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›็ญ‰ใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๆฅใ™ๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Intestinal Pseudo-Obstruction๏ผšCIPO๏ผ‰ใซใฏใ€ๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง๏ผˆPrimary๏ผ‰ใ€ๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง๏ผˆSecondary๏ผ‰ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใซใฏใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใ‚„CIIPใ‚’้™คใ„ใŸใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…้กž็ธ็–พๆ‚ฃ็ญ‰ใŒใ‚ใ‚Šใ€ๅฐๅ…ๆœŸใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏ้‘‘ๅˆฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๆˆไบบใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏใ€็ถš็™บๆ€งใฎๅฝๆ€ง่…ธ้–‰ๅกžใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200481NANDO:1200458
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/099-201704-kojin.pdf
rdfs:label - "Myotubular myopathy" + "Chronic idiopathic intestinal pseudo-obstruction" @en
rdfs:label - "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใพใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใŽใ›ใ„ใกใ‚‡ใ†ใธใ„ใใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttp://nanbyodata.jp/ontology/NANDO_2200946
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01276
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157771.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3961
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200477http://nanbyodata.jp/ontology/NANDO_1100013
+ skos:altLabel + "CIIP" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018947http://purl.obolibrary.org/obo/MONDO_0017574
skos:prefLabel - "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200482 +
http://nanbyodata.jp/ontology/NANDO_1200459 (rdf:type owl:Class @@ -37868,75 +44878,115 @@

hasNotificationNumber111hasNotificationNumber100
+ dcterms:description + "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พค๏ผˆๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡๏ผˆMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผšMMIHS๏ผ‰๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" + @ja
dcterms:identifier1200482NANDO:1200459
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/100-201704-kojin.pdf
rdfs:label - "Centronuclear myopathy" + "Megacystis-microcolon-intestinal hypoperistalsis syndrome" @en
rdfs:label - "ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใใ‚‡ใ ใ„ใผใ†ใ“ใ†ใŸใ‚“ใ—ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ‚“ใœใ‚“ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00700http://nanbyodata.jp/ontology/NANDO_2200947
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=953
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01869
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157683.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4065
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200477http://nanbyodata.jp/ontology/NANDO_1100013
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002921 + skos:altLabel + "Huge bladder short and small colon intestinal peristalsis deficiency" + @en
+ skos:altLabel + "MMIHS" + @en
+ skos:altLabel + "Megacystis microcolon intestinal hypoperistalsis syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018947http://purl.obolibrary.org/obo/MONDO_0007960
skos:prefLabel - "ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200483 +
http://nanbyodata.jp/ontology/NANDO_1200460 (rdf:type owl:Class @@ -37944,75 +44994,101 @@

hasNotificationNumber111hasNotificationNumber101
+ dcterms:description + "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" + @ja
dcterms:identifier1200483NANDO:1200460
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/101-201704-kojin.pdf
rdfs:label - "Congenital fiber-type disproportion myopathy" + "Congenital isolated hypoganglionosis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡" + "ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚“ใ‘ใ„ใ›ใคใ•ใ„ใผใ†ใใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2697http://nanbyodata.jp/ontology/NANDO_2200948
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00701http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1709
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01871
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157740.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3951
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200477http://nanbyodata.jp/ontology/NANDO_1100013
+ skos:altLabel + "Intestinal ganglion cells insignificant disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009711http://purl.obolibrary.org/obo/MONDO_0008738
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡" + "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" @ja
- - + - - + + + + + + - + + + + + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200484 +
http://nanbyodata.jp/ontology/NANDO_1200461 (rdf:type owl:Class @@ -38020,55 +45096,96 @@

hasNotificationNumber111hasNotificationNumber102
+ dcterms:description + "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใจใƒ†ใ‚คใƒ“ใŒใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค๏ผ—็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“๏ผˆRubinstein-Taybi๏ผ‰็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚" + @ja
dcterms:identifier1200484NANDO:1200461
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/102-201704-kojin.pdf
rdfs:label - "Type 1 Fiber Predominance Myopathy" + "Rubinstein-Taybi syndrome" @en
rdfs:label - "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็นŠ็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ‚‹ใณใ‚“ใ—ใ‚…ใŸใ„ใ‚“ใƒปใฆใ„ใณใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docxhttp://nanbyodata.jp/ontology/NANDO_2200955
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00504
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157778.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4068
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200477http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "Rubinstein-Taybi็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019188
skos:prefLabel - "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็นŠ็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" @ja
- - + - - + + - + - + - - + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200485 +
http://nanbyodata.jp/ontology/NANDO_1200462 (rdf:type owl:Class @@ -38076,82 +45193,105 @@

hasNotificationNumber112hasNotificationNumber103
dcterms:description - "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€ๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ€ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็‰นๅพดใจใ™ใ‚‹ไนณๅนผๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" @ja
dcterms:identifier1200485NANDO:1200462
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/112-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/103-201704-kojin.pdf
rdfs:label - "Marinesco-Sjogren syndrome" + "CFC Syndrome" @en
rdfs:label - "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "CFC็—‡ๅ€™็พค" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2552 + rdfs:label + "ใ—ใƒผใˆใตใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01284http://nanbyodata.jp/ontology/NANDO_2200967
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157296.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157709.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4786https://www.nanbyou.or.jp/entry/4095
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "Cardio-facio-cutaneous syndrome" + @en
+ skos:altLabel + "cardio-facio-cutaneous็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ๅฟƒ่‡“ใƒป้ก”ใƒป็šฎ่†š็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009567http://purl.obolibrary.org/obo/MONDO_0015280
skos:prefLabel - "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "CFC็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200486 +
http://nanbyodata.jp/ontology/NANDO_1200463 (rdf:type owl:Class @@ -38159,72 +45299,101 @@

hasNotificationNumber113hasNotificationNumber104
dcterms:description - "้ชจๆ ผ็ญ‹ใฎๅฃŠๆญปใƒปๅ†็”Ÿใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใงใ€50ไปฅไธŠใฎๅŽŸๅ› ้บไผๅญใŒ่งฃๆ˜Žใ•ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚้ชจๆ ผ็ญ‹้šœๅฎณใซไผดใ†้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใŒใ€้–ข็ฏ€ๆ‹˜็ธฎ๏ฝฅๅค‰ๅฝขใ€ๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใ€ๅฟƒ็ญ‹้šœๅฎณใ€ๅšฅไธ‹ๆฉŸ่ƒฝ้šœๅฎณใ€ๆถˆๅŒ–็ฎก็—‡็Šถใ€้ชจไปฃ่ฌ็•ฐๅธธใ€ๅ†…ๅˆ†ๆณŒไปฃ่ฌ็•ฐๅธธใ€็œผ็—‡็Šถใ€้›ฃ่ดใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ™ใชใ‚ใกใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€้ชจๆ ผ็ญ‹ไปฅๅค–ใซใ‚‚ๅคš่‡“ๅ™จใŒไพตใ•ใ‚Œใ€้›†ๅญฆ็š„ใช็ฎก็†ใ‚’่ฆใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็—…ๅž‹ใจใ—ใฆใฏใ€ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡๏ผˆใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹๏ผใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผ‰ใ€่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใชใฉใŒใ‚ใ‚‹ใ€‚" + "ๅ…ˆๅคฉ็š„ใชHRAS้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" @ja
dcterms:identifier1200486NANDO:1200463
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/104-201704-kojin.pdf
rdfs:label - "Muscular dystrophy" + "Costello syndrome" @en
rdfs:label - "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ“ใ™ใฆใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttp://nanbyodata.jp/ontology/NANDO_2200971
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2004
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01747
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157703.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4086
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "Costello็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020121http://purl.obolibrary.org/obo/MONDO_0009026
skos:prefLabel - "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200487 +
http://nanbyodata.jp/ontology/NANDO_1200464 (rdf:type owl:Class @@ -38232,65 +45401,106 @@

hasNotificationNumber113hasNotificationNumber105
+ dcterms:description + "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ… 20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅฟƒๅฅ‡ๅฝขใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”้…ๆปžใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200487NANDO:1200464
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/105-201704-kojin.pdf
rdfs:label - "Dystrophinopathies" + "CHARGE syndrome" @en
rdfs:label - "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡" + "ใกใ‚ƒใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00562http://nanbyodata.jp/ontology/NANDO_2200972
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1942
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1943
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00556
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157954.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200486http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "CHARGE็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008965
skos:prefLabel - "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡" + "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200488 +
http://nanbyodata.jp/ontology/NANDO_1200465 (rdf:type owl:Class @@ -38298,75 +45508,96 @@

hasNotificationNumber113hasNotificationNumber106
+ dcterms:description + "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ๏ผˆCryopyrin๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ๏ผˆinflammasome๏ผ‰ใ‚’ไป‹ใ—ใŸใƒ—ใƒญใ‚ซใ‚นใƒ‘ใƒผใ‚ผ-๏ผ‘๏ผˆprocaspase-1๏ผ‰ใฎๆดปๆ€งๅŒ–ใซใ‚ˆใ‚‹IL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปฝ็—‡ๅž‹ใฎๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พค๏ผˆFamilial cold autoinflammatorysyndrome๏ผšFCAS๏ผ‰ใ€ไธญ็ญ‰็—‡ใฎใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค๏ผˆMucke-Wells syndrome๏ผšMWS๏ผ‰ใ€้‡็—‡ๅž‹ใฎๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค๏ผˆChronic infantile neurologic cutaneous, and articular syndrome๏ผšCINCA็—‡ๅ€™็พค)๏ผๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ๏ผˆNeonatal onset multisystem inflammatory disease๏ผšNOMID๏ผ‰ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ๆ˜Ž็ขบใซ็—…ๅž‹ใ‚’ๅŒบๅˆฅใงใใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใซใŠใ‘ใ‚‹ๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ100ไบบ็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใŒๅคšใ„ใŒใ€ๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚็™บ็—‡ใซใŠใ‘ใ‚‹็”ทๅฅณๅทฎใฏใชใ„ใ€‚" + @ja
dcterms:identifier1200488NANDO:1200465
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdf
rdfs:label - "Duchenne muscular dystrophy" + "Cryopyrin-associated periodic syndrome" @en
rdfs:label - "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใใ‚ŠใŠใดใ‚Šใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใญใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3509http://nanbyodata.jp/ontology/NANDO_2200432
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01963https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00282
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522https://www.nanbyou.or.jp/entry/3995
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200487http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "Cryopyrin associated periodic fever syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010679http://purl.obolibrary.org/obo/MONDO_0016168
skos:prefLabel - "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200489 +
http://nanbyodata.jp/ontology/NANDO_1200466 (rdf:type owl:Class @@ -38374,75 +45605,93 @@

hasNotificationNumber113hasNotificationNumber106
dcterms:identifier1200489NANDO:1200466
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdf
rdfs:label - "Becker muscular dystrophy" + "Familial cold autoinflammatorysyndrome" @en
rdfs:label - "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‹ใžใใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใ˜ใ‚“ใพใ—ใ‚“" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3302https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docx
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01964https://www.nanbyou.or.jp/entry/3994
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200465
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522 + skos:altLabel + "FCAS" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200487 + skos:altLabel + "FCAS" + @ja
+ skos:altLabel + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010311http://purl.obolibrary.org/obo/MONDO_0018768
skos:prefLabel - "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200490 +
http://nanbyodata.jp/ontology/NANDO_1200467 (rdf:type owl:Class @@ -38450,70 +45699,103 @@

hasNotificationNumber113hasNotificationNumber106
dcterms:identifier1200490NANDO:1200467
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdf
rdfs:label - "Limb-girdle muscular dystrophy" + "Muckle-Wells syndrome" @en
rdfs:label - "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใพใฃใใ‚‹ใƒปใ†ใ‡ใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00593http://nanbyodata.jp/ontology/NANDO_2201067
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1605
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3995
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200486http://nanbyodata.jp/ontology/NANDO_1200465
+ skos:altLabel + "MWS" + @en
+ skos:altLabel + "MWS" + @ja
+ skos:altLabel + "Muckle-Wells็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016971http://purl.obolibrary.org/obo/MONDO_0008633
skos:prefLabel - "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + - - + + + + + + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200491 +
http://nanbyodata.jp/ontology/NANDO_1200468 (rdf:type owl:Class @@ -38521,80 +45803,124 @@

hasNotificationNumber113hasNotificationNumber106
dcterms:identifier1200491NANDO:1200468
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/106-201704-kojin.pdf
rdfs:label - "Facioscapulohumeral muscular dystrophy" + "Chronic infantileย neurological cutaneous articular syndrome" @en
rdfs:label - "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใพใ‚“ใ›ใ„ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใฒใตใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1017http://nanbyodata.jp/ontology/NANDO_2201066
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00591http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4535
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157686.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522https://www.nanbyou.or.jp/entry/3995
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200486http://nanbyodata.jp/ontology/NANDO_1200465
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001347 + skos:altLabel + "CINCA syndrome" + @en
+ skos:altLabel + "CINCA็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "NOMID" + @en
+ skos:altLabel + "NOMID" + @ja
+ skos:altLabel + "Neonatal onset multisystem inflammatory disease" + @en
+ skos:altLabel + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008030http://purl.obolibrary.org/obo/MONDO_0011776
skos:prefLabel - "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - - + + + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“" + @ja-Hira - + - + + + + + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200492 +
http://nanbyodata.jp/ontology/NANDO_1200469 (rdf:type owl:Class @@ -38602,65 +45928,96 @@

hasNotificationNumber113hasNotificationNumber107
+ dcterms:description + "16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ€ๅŽŸๅ› ไธๆ˜Žใฎ๏ผ–้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๆ…ขๆ€งใฎ้–ข็ฏ€็‚Žใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซ็พ่ฑกใ‚’ๅŸบ็›คใจใ—ใ€้€ฒ่กŒๆ€งใƒป็ ดๅฃŠๆ€งใฎ้–ข็ฏ€็‚Žใ‚’่ชใ‚ใ€ใถใฉใ†่†œ็‚Ž๏ผˆ่™นๅฝฉ็‚Ž๏ผ‰ใ€็šฎ็–นใ€่‚่„พ่…ซใ€ๆผฟ่†œ็‚Žใ€็™บ็†ฑใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใชใฉใ•ใพใ–ใพใช้–ข็ฏ€ๅค–็—‡็Šถใ‚’ไผดใ†ใ€‚ๅ…จ่บซ็—‡็Šถใฎๅผทใ„ๅ…จ่บซๅž‹ใจใ€ๅ…จ่บซ็—‡็Šถใฎใชใ„้–ข็ฏ€ๅž‹ใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200492NANDO:1200469
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf + rdfs:label + "Juvenile idiopathic arthritis" + @en
rdfs:label - "Emery-Dreifuss muscular dystrophy" - @en
rdfs:label - "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttp://nanbyodata.jp/ontology/NANDO_2200415
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9464
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01672
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198074.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3947
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200486http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "JIA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016830http://purl.obolibrary.org/obo/MONDO_0011429
skos:prefLabel - "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200493 +
http://nanbyodata.jp/ontology/NANDO_1200470 (rdf:type owl:Class @@ -38668,70 +46025,84 @@

hasNotificationNumber113hasNotificationNumber107
dcterms:identifier1200493NANDO:1200470
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/107-01-201804-kojin.pdf
rdfs:label - "Oculopharyngeal muscular dystrophy" + "Systemic juvenile idiopathic arthritis" @en
rdfs:label - "็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใœใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1105http://nanbyodata.jp/ontology/NANDO_2201055
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198074.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522https://www.nanbyou.or.jp/entry/3947
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200486http://nanbyodata.jp/ontology/NANDO_1200469
+ skos:altLabel + "sJIA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008116http://purl.obolibrary.org/obo/MONDO_0019434
skos:prefLabel - "็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
- - + - - + + - + - + - - - - + "ใ‹ใ‚“ใ›ใคใŒใŸใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200494 +
http://nanbyodata.jp/ontology/NANDO_1200471 (rdf:type owl:Class @@ -38739,75 +46110,72 @@

hasNotificationNumber113hasNotificationNumber107
dcterms:identifier1200494NANDO:1200471
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/107-02-201804-kojin.pdf
rdfs:label - "Fukuyama type congenital muscular dystrophy" + "Articular-type juvenile idiopathic arthritis" @en
rdfs:label - "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2665
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01957 + rdfs:label + "้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198074.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522https://www.nanbyou.or.jp/entry/3947
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200486http://nanbyodata.jp/ontology/NANDO_1200469
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009678http://purl.obolibrary.org/obo/MONDO_0019433
skos:prefLabel - "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200495 +
http://nanbyodata.jp/ontology/NANDO_1200472 (rdf:type owl:Class @@ -38815,65 +46183,101 @@

hasNotificationNumber113hasNotificationNumber108
+ dcterms:description + "่ฟ‘ๅนดใ€ๅ›ฝๅ†…ๅค–ใงๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็™บ็†ฑใ€็šฎ็–นใ€็ญ‹่‚‰็—›ใ€้–ข็ฏ€็—›ใ€ๆผฟ่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ™‚ใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TNFๅ—ๅฎนไฝ“๏ผ‘ๅž‹๏ผˆTNF๏ผฒSF1A๏ผ‰ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใŒใ€่ฉณใ—ใ„็—…ๆ…‹ใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Žใ‚„ๆˆไบบใ‚นใƒใƒซ็—…ใจ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€้‘‘ๅˆฅใŒ้‡่ฆใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200495NANDO:1200472
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/108-201704-kojin.pdf
rdfs:label - "Myotonic dystrophy" + "TNF receptor-associated periodic fever syndrome" @en
rdfs:label - "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใฆใƒใƒผใˆใฌใˆใตใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docxhttp://nanbyodata.jp/ontology/NANDO_2200433
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=723
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00912
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157741.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4034
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200486http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "TRAPS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016107http://purl.obolibrary.org/obo/MONDO_0007727
skos:prefLabel - "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200496 +
http://nanbyodata.jp/ontology/NANDO_1200473 (rdf:type owl:Class @@ -38881,84 +46285,108 @@

hasNotificationNumber114hasNotificationNumber109
dcterms:description - "็ญ‹็ทš็ถญใฎ่ˆˆๅฅฎๆ€ง็•ฐๅธธใซใ‚ˆใ‚‹็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰็พ่ฑกใ‚’ไธปๅพดใจใ—ใ€็ญ‹ใฎๅค‰ๆ€ง๏ผˆใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅค‰ๅŒ–๏ผ‰ใ‚’ไผดใ‚ใชใ„้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใ‚„ๅŽŸๅ› ้บไผๅญใ‹ใ‚‰ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅŒๆง˜ใซ็ญ‹ๅผท็›ด็พ่ฑกใ‚’็คบใ™้–ข้€ฃ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พคใซใฏๅซใ‚ใชใ„ใ€‚" + "ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome๏ผšHUS๏ผ‰ใฏใ€ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆ€ฅๆ€ง่…Ž้šœๅฎณใ‚’๏ผ“ๅพดๅ€™ใจใ™ใ‚‹ใ€ๅฐๅ…ใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚HUSใฎ็ด„90๏ผ…ใฏไธ‹็—ขใ‚’ไผดใ„ใ€O157็ญ‰ใฎ็—…ๅŽŸๆ€งๅคง่…ธ่Œใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไธ€ๆ–นใงใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‰ใชใ„HUSใŒ็ด„10๏ผ…ๅญ˜ๅœจใ—ใ€ใใ‚Œใ‚‰ใฏ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆthrombotic microangiopathy๏ผšTMA๏ผ‰ใฎไธญใงใ‚‚ใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‹HUSใ€ADAMTS13ๆดปๆ€งไฝŽไธ‹๏ผˆ๏ผœ10๏ผ…๏ผ‰ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผš TTP๏ผ‰ใ€่–ฌๅ‰คใƒป็งปๆคใชใฉใซใ‚ˆใ‚‹ใƒ‹ๆฌกๆ€งTMAใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใจใ—ใฆใ€้žๅ…ธๅž‹๏ผˆatypical,a๏ผ‰HUSใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅŽŸๆ€งๅคง่…ธ่Œใซใ‚ˆใ‚‹HUSใฏๆฏ”่ผƒ็š„ไบˆๅพŒใŒ่‰ฏใ„ใฎใซๅฏพใ—ใ€aHUSใงใฏ่‡ดๆญป็Ž‡ใŒ็ด„25๏ผ…ใจไบˆๅพŒใŒ้žๅธธใซๆ‚ชใ„ใ€‚ๆตทๅค–ใงใฏใ€ๆฏŽๅนด100ไธ‡ไบบใ‚ใŸใ‚Šๆˆไบบใง๏ผ’ไบบ็™บ็—‡ใ€ๅฐๅ…ใงใฏ100ไธ‡ไบบใซ๏ผ—ไบบ็™บ็—‡ใจๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšๅˆๅŒๅง”ๅ“กไผšใซใ‚ˆใ‚‹2013ๅนดใฎaHUSใฎ่จบๆ–ญๅŸบๆบ–ใงใฏใ€aHUSใ‚’ใ€Œ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆTMA๏ผ‰ใ‹ใ‚‰ๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSๅŠใณADAMTS13ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPใ‚’้™คใ„ใŸใ‚‚ใฎใ€ใจใ—ใ€ใใฎไธญใฎไธ€้ƒจใซๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎใ€Œ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใ€ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšใซใ‚ˆใ‚‹ใ€Œ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆaHUS๏ผ‰่จบ็™‚ใ‚ฌใ‚คใƒ‰2015ใ€ใซใŠใ‘ใ‚‹่จบๆ–ญๅŸบๆบ–ใฎๆ”น่จ‚็‰ˆใงใฏใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใฎใฟใŒๆ–ฐใŸใซaHUS๏ผˆ่ฃœไฝ“้–ข้€ฃHUS๏ผ‰ใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚TMAใฎใ†ใกใ€STEC-HUSใ€TTPใ€ไบŒๆฌกๆ€งTMAใ‚’้‘‘ๅˆฅใ—ใˆใŸๆ‚ฃ่€…ใง่‡จๅบŠ็š„ใซaHUSใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„aHUSๆ‚ฃ่€…ใซใŠใ„ใฆใ€ใ•ใ‚‰ใซaHUSใฎ็‰น็•ฐ็š„ใชๆคœๆŸปใ‚’่กŒใ„ใ€ๆ—ข็Ÿฅ่ฃœไฝ“้–ข้€ฃใฎ็—…็š„้บไผๅญๅค‰็•ฐไพ‹ใ€ๆŠ—Hๅ› ๅญๆŠ—ไฝ“้™ฝๆ€งไพ‹ใŒaHUS็ขบๅฎš่จบๆ–ญไพ‹ใงใ‚ใ‚‹ใ€‚ๅŒป็™‚่ฒปๅŠฉๆˆใฎๅฏพ่ฑกใจใ™ในใ็–พ็—…ใฎ็ฏ„ๅ›ฒใฏใ€2015ๅนดใฎๅŸบๆบ–ใซใ‚ˆใ‚‹่‡จๅบŠ็š„aHUS่จบๆ–ญไพ‹ใ€ๅˆใฏaHUS็ขบๅฎš่จบๆ–ญไพ‹ใฎใฟใซๅฏพใ—ใฆใงใ‚ใ‚Šใ€ๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200496NANDO:1200473
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/109-201704-kojin.pdf
rdfs:label - "Non-dystrophic Myotonia" + "Atypical hemolytic uremic syndrome" @en
rdfs:label - "้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค" + "ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01780http://nanbyodata.jp/ontology/NANDO_2200131
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docxhttp://nanbyodata.jp/ontology/NANDO_2200641
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01434
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157758.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3847
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100007
skos:altLabel - "Non-dystrophic myotonia syndrome" + "Atypical haemolytic uraemic syndrome" + @en
+ skos:altLabel + "aHUS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016110http://purl.obolibrary.org/obo/MONDO_0016244
skos:prefLabel - "้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค" + "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
- - + - - + + - + - + - - - - + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200497 +
http://nanbyodata.jp/ontology/NANDO_1200474 (rdf:type owl:Class @@ -38966,75 +46394,79 @@

hasNotificationNumber114hasNotificationNumber109
dcterms:identifier1200497NANDO:1200474
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/109-201704-kojin.pdf
rdfs:label - "Myotonia congenita" + "Congenital atypical hemolytic uremic syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2696
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00705 + rdfs:label + "ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157758.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519https://www.nanbyou.or.jp/entry/3847
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200496http://nanbyodata.jp/ontology/NANDO_1200473
+ skos:altLabel + "Congenital atypical haemolytic uremic syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009710http://purl.obolibrary.org/obo/MONDO_0016244
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ" + "ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ“ใ†ใฆใ‚“ใ›ใ„ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - - - - - - - + "Acquired atypical hemolytic uremic syndrome" + @en
http://nanbyodata.jp/ontology/nando#1200498 +
http://nanbyodata.jp/ontology/NANDO_1200475 (rdf:type owl:Class @@ -39042,82 +46474,74 @@

hasNotificationNumber114hasNotificationNumber109
dcterms:identifier1200498NANDO:1200475
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/109-201704-kojin.pdf
rdfs:label - "Thomsen disease" + "Acquired aHUS" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2696 + rdfs:label + "ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157758.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519https://www.nanbyou.or.jp/entry/3847
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200497http://nanbyodata.jp/ontology/NANDO_1200473
skos:altLabel - "ใƒˆใƒ ใ‚ผใƒณ็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008055
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009710
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰" + "ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200499 +
http://nanbyodata.jp/ontology/NANDO_1200476 (rdf:type owl:Class @@ -39125,77 +46549,115 @@

hasNotificationNumber114hasNotificationNumber110
+ dcterms:description + "ๆœฌ็—‡ใฏใ€NOD2้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใซใฆ็™บ็—‡ใ™ใ‚‹ๅ…จ่บซๆ€ง่‚‰่Šฝ่…ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏNOD2้บไผๅญใฎexon3๏ผˆNOD้ ˜ๅŸŸ๏ผ‰ใซๅค‰็•ฐใ‚’่ชใ‚ใ€in vitroใซใŠใ„ใฆNF-ฮบ Bใฎ่‡ช็™บ็š„ใช่ปขๅ†™ไบข้€ฒใ‚’ๅฐŽใๆฉŸ่ƒฝไบข้€ฒๅค‰็•ฐใงใ‚ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ‚‚ใฎใฎใ€ๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็šฎ่†š็—‡็Šถใƒป้–ข็ฏ€็—‡็Šถใƒป็œผ็—‡็Šถใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ใŒใ€ๅคšใใฎๅ ดๅˆ็—‡็Šถใฏใ“ใฎ้ †ใซๅ‡บ็พใ—ใ€๏ผ“ไธปๅพดๅ…จใฆใŒๅ‡บๆƒใ†ใซใฏๆ™‚้–“ใŒใ‹ใ‹ใ‚‹ใ€‚็ฝนๆ‚ฃ้ƒจไฝใฎ็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏ่‚‰่Šฝ่…ซ๏ผˆ้žไนพ้…ชๆ€งใ€้กžไธŠ็šฎ็ดฐ่ƒžๆ€ง๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200499NANDO:1200476
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/110-201704-kojin.pdf
rdfs:label - "Becker disease" + "Blau syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰" + "ใถใ‚‰ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2701http://nanbyodata.jp/ontology/NANDO_2200434
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1501
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00285
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157763.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/3827
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200497http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "ใƒ™ใƒƒใ‚ซใƒผ็—…" + "Blau็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "Early onset sarcoidosis" + @en
+ skos:altLabel + "่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009715http://purl.obolibrary.org/obo/MONDO_0008523
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰" + "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200500 +
http://nanbyodata.jp/ontology/NANDO_1200477 (rdf:type owl:Class @@ -39203,60 +46665,84 @@

hasNotificationNumber114hasNotificationNumber111
+ dcterms:description + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฏใ€้ชจๆ ผ็ญ‹ใฎๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใชใ„ใ—ไนณๅ…ๆœŸใ‹ใ‚‰็ญ‹ๅŠ›ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’็คบใ—ใ€ใพใŸ็ญ‹็—‡็Šถไปฅๅค–ใซใ‚‚ๅ‘ผๅธ้šœๅฎณใ€ๅฟƒๅˆไฝต็—‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅดๅผฏใ€็™บ่‚ฒใƒป็™บ้”ใฎ้…ใ‚Œ็ญ‰ใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚็ตŒ้Žใฏ็ทฉๅพใชใŒใ‚‰้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ใฏใ€่ก€ๆธ…ใ‚ฏใƒฌใ‚ขใƒใƒณใ‚ญใƒŠใƒผใ‚ผๅ€คใฎๆญฃๅธธใ‹ใ‚‰่ปฝๅบฆไธŠๆ˜‡ใ‚’ใ€็ญ‹้›ปๅ›ณใงใฏๆญฃๅธธใชใ„ใ—็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ—ใ€้ชจๆ ผ็ญ‹็”ปๅƒใงใฏ่Ž็ธฎใ€่„‚่‚ชๅค‰ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ‚Œใ‚‰ๆ‰€่ฆ‹ใฎใฟใงใฏใ€ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅŠใณไปฃ่ฌๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธ€้ƒจใจใฎๅŒบๅˆฅใŒใคใ‹ใชใ„ใ€‚ใใฎใŸใ‚ใ€็ขบๅฎš่จบๆ–ญใซใฏ็ญ‹็”Ÿๆคœใซใ‚ˆใ‚‹็ญ‹็—…็†ๆคœๆŸปใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹็—…็†ๅƒใซๅŸบใฅใใ€็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธ็—…ใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใจใ„ใฃใŸ็—…ๅž‹ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ไธญใซใฏ็‰นๅพด็š„็—…็†ๆ‰€่ฆ‹ใ‚’็คบใ•ใšใ€้ž็‰น็•ฐ็š„็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ™ใฎใฟใงๅˆ†้กžไธ่ƒฝใช้ž็‰น็•ฐ็š„ใชๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ„็—…ๅž‹ใง่ค‡ๆ•ฐใฎ้บไผๅญใฎ้–ขไธŽใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€้‡็—‡ๅบฆใจ็—…็†ๅƒใ€้บไผๅญๅค‰็•ฐใจใซๅฟ…ใšใ—ใ‚‚็›ธ้–ขใŒใ‚ใ‚‹ใ‚ใ‘ใงใฏใชใ„ใ€‚" + @ja
dcterms:identifier1200500NANDO:1200477
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "Sodium channel myotonia" + "Congenital myopathy" @en
rdfs:label - "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ(ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ)" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01810
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4727
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200496http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019952
skos:prefLabel - "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ(ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ)" + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200501 +
http://nanbyodata.jp/ontology/NANDO_1200478 (rdf:type owl:Class @@ -39264,82 +46750,82 @@

hasNotificationNumber114hasNotificationNumber111
dcterms:identifier1200501NANDO:1200478
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "Paramyotonia congenita" + "Nemaline myopathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ" + "ใญใพใ‚Šใ‚“ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1175http://nanbyodata.jp/ontology/NANDO_2200869
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00743https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00698
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519https://www.nanbyou.or.jp/entry/4726
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200496
- skos:altLabel - "ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ" - @jahttp://nanbyodata.jp/ontology/NANDO_1200477
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008195http://purl.obolibrary.org/obo/MONDO_0018958
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ" + "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200502 +
http://nanbyodata.jp/ontology/NANDO_1200479 (rdf:type owl:Class @@ -39347,79 +46833,87 @@

hasNotificationNumber115
- dcterms:description - "็™บไฝœๆ€งใฎ้ชจๆ ผ็ญ‹ใฎ่„ฑๅŠ›ใƒป้บป็—บใ‚’ๆฅใ™้บไผๆ€ง็–พๆ‚ฃใงใ€่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็™บไฝœๆ™‚ใฎ่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚ŠไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใจ้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber111
dcterms:identifier1200502NANDO:1200479
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "Hereditary Hypokalemic Periodic Paralysis" + "Central core disease" @en
rdfs:label - "้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + "ใ›ใ‚“ใจใ‚‰ใ‚‹ใ“ใ‚ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00215http://nanbyodata.jp/ontology/NANDO_2200870
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157132.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=262
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4528https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00699
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
- skos:altLabel - "Hereditary periodic paralysis" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4727
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200477
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000995http://purl.obolibrary.org/obo/MONDO_0007294
skos:prefLabel - "้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200503 +
http://nanbyodata.jp/ontology/NANDO_1200480 (rdf:type owl:Class @@ -39427,60 +46921,79 @@

hasNotificationNumber115hasNotificationNumber111
dcterms:identifier1200503NANDO:1200480
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/115-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "Hereditary Hypokalemic Periodic Paralysis" + "Minicore myopathy" @en
rdfs:label - "้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + "ใฟใซใ“ใ‚ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157132.docxhttp://nanbyodata.jp/ontology/NANDO_2200872
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4528https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4726
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200502http://nanbyodata.jp/ontology/NANDO_1200477
+ skos:altLabel + "Mini core disease" + @en
skos:prefLabel - "้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + "X-linked centronuclear myopathy" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200504 +
http://nanbyodata.jp/ontology/NANDO_1200481 (rdf:type owl:Class @@ -39488,67 +47001,84 @@

hasNotificationNumber115hasNotificationNumber111
dcterms:identifier1200504NANDO:1200481
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/115-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "Hereditary Hyperkalemic Periodic Paralysis" + "Myotubular myopathy" @en
rdfs:label - "้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + "ใฟใŠใกใ‚…ใถใ‚‰ใƒผใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157132.docxhttp://nanbyodata.jp/ontology/NANDO_2200867
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4528https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4727
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200502http://nanbyodata.jp/ontology/NANDO_1200477
skos:altLabel - "ๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018947
skos:prefLabel - "้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200505 +
http://nanbyodata.jp/ontology/NANDO_1200482 (rdf:type owl:Class @@ -39556,72 +47086,82 @@

hasNotificationNumber116
- dcterms:description - "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจใฏใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใƒป็ต่†œ็‚Žใชใฉใฎใ‚ขใƒˆใƒ”ใƒผ็ด ๅ› ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹่„Š้ซ„็‚Žใงใ‚ใ‚‹ใ€‚1997ๅนดใซๅ‰่‰ฏใ‚‰ใŒ๏ผ”ไพ‹ใฎ้ซ˜IgE่ก€็—‡ใจใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ‚’ไผดใฃใŸใ€ๅ››่‚ขใฎ็•ฐๅธธๆ„Ÿ่ฆš๏ผˆใ˜ใ‚“ใ˜ใ‚“ๆ„Ÿ๏ผ‰ใ‚’ๅ‘ˆใ—้ š้ซ„ๅพŒ็ดขใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹่„Š้ซ„็‚Žใ‚’ๅ ฑๅ‘Šใ—ใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจๅ‘ฝๅใ—ใŸใ€‚" - @jahasNotificationNumber111
dcterms:identifier1200505NANDO:1200482
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/116-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "Atopic myelitis" + "Centronuclear myopathy" @en
rdfs:label - "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž" + "ใกใ‚…ใ†ใ—ใ‚“ใ‹ใใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01863https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00700
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157115.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4723https://www.nanbyou.or.jp/entry/4727
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200477
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002921
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018947
skos:prefLabel - "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž" + "ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200506 +
http://nanbyodata.jp/ontology/NANDO_1200483 (rdf:type owl:Class @@ -39629,77 +47169,89 @@

hasNotificationNumber117
- dcterms:description - "่„Š้ซ„ๅ†…ใซ็ฉบๆดž๏ผˆsyrinx๏ผ‰ใŒๅฝขๆˆใ•ใ‚Œใ€ๅฐ่„ณ็—‡็Šถใ€ไธ‹ไฝ่„ณ็ฅž็ตŒ็—‡็Šถใ€ไธŠไธ‹่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆธฉ็—›่ฆš้šœๅฎณใ€่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ€ๅดๅผฏ็—‡ใชใฉๅคšๅฝฉใช็ฅž็ตŒ็—‡็Šถใ€ๅ…จ่บซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็จฎใ€…ใฎๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ€‚" - @jahasNotificationNumber111
dcterms:identifier1200506NANDO:1200483
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/117-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "Syringomyelia" + "Congenital fiber-type disproportion myopathy" @en
rdfs:label - "่„Š้ซ„็ฉบๆดž็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ›ใ‚“ใ„ใตใใ‚“ใจใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01675http://nanbyodata.jp/ontology/NANDO_2200868
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157222.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2697
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/133https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4727
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200477
+ skos:altLabel + "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017987http://purl.obolibrary.org/obo/MONDO_0009711
skos:prefLabel - "่„Š้ซ„็ฉบๆดž็—‡" + "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200507 +
http://nanbyodata.jp/ontology/NANDO_1200484 (rdf:type owl:Class @@ -39707,60 +47259,67 @@

hasNotificationNumber117hasNotificationNumber111
dcterms:identifier1200507NANDO:1200484
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/117-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/111-201704-kojin.pdf
rdfs:label - "symptomatic Syringomyelia" + "Type 1 fiber predominance myopathy" @en
rdfs:label - "็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" + "ใœใ‚“ใŸใ„ใท1ใ›ใ‚“ใ„ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157222.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157230.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/133https://www.nanbyou.or.jp/entry/4727
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200506http://nanbyodata.jp/ontology/NANDO_1200477
skos:prefLabel - "็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" + "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200508 +
http://nanbyodata.jp/ontology/NANDO_1200485 (rdf:type owl:Class @@ -39768,60 +47327,103 @@

hasNotificationNumber117hasNotificationNumber112
+ dcterms:description + "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€ๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ€ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็‰นๅพดใจใ™ใ‚‹ไนณๅนผๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200508NANDO:1200485
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/117-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/112-201704-kojin.pdf
rdfs:label - "asymptomatic Syringomyelia" + "Marinesco-Sjogren syndrome" @en
rdfs:label - "็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" + "ใพใ‚Šใญใ™ใ“ใƒปใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157222.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2552
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/133https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01284
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157296.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4787
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200506http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "MSS" + @ja
+ skos:altLabel + "Marinesco-Sjogren็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009567
skos:prefLabel - "็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" + "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200509 +
http://nanbyodata.jp/ontology/NANDO_1200486 (rdf:type owl:Class @@ -39829,77 +47431,79 @@

hasNotificationNumber118hasNotificationNumber113
dcterms:description - "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พ็—…๏ผˆ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณ๏ผ‰ใฏใ€่„Š้ซ„้ซ„่†œ็˜คใ€็„ก่„ณ็—‡ใ€่„ณ็•™ใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใ€‚็„ก่„ณ็—‡ใจ่„ณ็•™ใฏ้ŽๅŠๆ•ฐใŒ่‡ช็„ถๆต็”ฃใ™ใ‚‹ใ‹ใ€ๅฆŠๅจ ไธญ็ตถใ‚’ใ†ใ‘ใ‚‹ใ‹ใ€ๅ‡บ็”Ÿใ—ใฆใ‚‚24ๆ™‚้–“ไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใฎไบŒๅˆ†่„ŠๆคŽใฏ้ก•ๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida aperta๏ผ‰ใจๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida occulta๏ผ‰ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹ใ€‚่„Š้ซ„้ซ„่†œ็˜คใฏๅ‰่€…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใฏใ€็™บ็”Ÿๅญฆ็š„ใซ็›ธ้•ใ™ใ‚‹ใฎใงใ€ๅŽŸๅ› ใ€่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆณ•ใชใฉใ‚’็”ปไธ€็š„ใซ่ญฐ่ซ–ใ™ใ‚‹ใ“ใจใฏ้ฉๅˆ‡ใงใชใ„ใ€‚็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฏใ€ๅฆŠๅจ ๏ผ–้€ฑ๏ผˆๅ—็ฒพ๏ผ”้€ฑๅพŒ๏ผ‰้ ƒใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅฆŠๅจ ๅ‰ใ‹ใ‚‰่‘‰้…ธใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ50๏ฝž70๏ผ…ใ‚’้˜ฒๆญขใงใใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใฏๆฐด้ ญ็—‡ใ€่„ŠๆคŽๅดๅผฏใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆฉŸ่ƒฝ้šœๅฎณใ€ๆŽ’ไพฟ้šœๅฎณใชใฉใŒไธป่ฆใช่‡จๅบŠ็—‡็Šถใงใ‚ใ‚Šใ€่„ณ็ฅž็ตŒๅค–็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€ๆณŒๅฐฟๅ™จ็ง‘ใ€ๅฐๅ…็ง‘ใ€ใƒชใƒใƒ“ใƒชใƒ†ใƒผใ‚ทใƒงใƒณ็ง‘ใชใฉใฎๅŒ…ๆ‹ฌ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + "้ชจๆ ผ็ญ‹ใฎๅฃŠๆญปใƒปๅ†็”Ÿใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใงใ€50ไปฅไธŠใฎๅŽŸๅ› ้บไผๅญใŒ่งฃๆ˜Žใ•ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚้ชจๆ ผ็ญ‹้šœๅฎณใซไผดใ†้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใŒใ€้–ข็ฏ€ๆ‹˜็ธฎ๏ฝฅๅค‰ๅฝขใ€ๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใ€ๅฟƒ็ญ‹้šœๅฎณใ€ๅšฅไธ‹ๆฉŸ่ƒฝ้šœๅฎณใ€ๆถˆๅŒ–็ฎก็—‡็Šถใ€้ชจไปฃ่ฌ็•ฐๅธธใ€ๅ†…ๅˆ†ๆณŒไปฃ่ฌ็•ฐๅธธใ€็œผ็—‡็Šถใ€้›ฃ่ดใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ™ใชใ‚ใกใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€้ชจๆ ผ็ญ‹ไปฅๅค–ใซใ‚‚ๅคš่‡“ๅ™จใŒไพตใ•ใ‚Œใ€้›†ๅญฆ็š„ใช็ฎก็†ใ‚’่ฆใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็—…ๅž‹ใจใ—ใฆใฏใ€ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡๏ผˆใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹๏ผใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผ‰ใ€่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200509NANDO:1200486
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/118-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "Myelomeningocele" + "Muscular dystrophy" @en
rdfs:label - "่„Š้ซ„้ซ„่†œ็˜ค" + "ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157223.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4633https://www.nanbyou.or.jp/entry/4523
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017069http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019773http://purl.obolibrary.org/obo/MONDO_0020121
skos:prefLabel - "่„Š้ซ„้ซ„่†œ็˜ค" + "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200510 +
http://nanbyodata.jp/ontology/NANDO_1200487 (rdf:type owl:Class @@ -39907,82 +47511,77 @@

hasNotificationNumber119
- dcterms:description - "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พคใฏใ€ๆŒ็ถšๆ€งใฎๅ››่‚ขใƒป่บฏๅนนใฎ็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ใƒŸใ‚ชใ‚ญใƒŸใ‚ขใ€ใƒ‹ใƒฅใƒผใƒญใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ปไฝไพๅญ˜ๆ€งใ‚ซใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“๏ผ‰ใŒ้–ข้€ฃใ™ใ‚‹ใ€‚ใ‚ˆใ‚Š้‡็—‡ๅž‹ใฎใƒขใƒซใƒใƒณ็—‡ๅ€™็พคใฏใ€ไธŠ่จ˜ใซๅŠ ใˆใ€ไธๆ•ด่„ˆใ€ๅฐฟๅคฑ็ฆใชใฉใฎๅคšๅฝฉใช่‡ชๅพ‹็ฅž็ตŒ็ณปใฎ็—‡็Šถใจ้‡ๅบฆใฎไธ็œ ใ€ๅคœ้–“่กŒๅ‹•็•ฐๅธธใ€ๅนป่ฆšใ€่จ˜้Š˜ๅŠ›้šœๅฎณใชใฉใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€ๅฅๅฟ˜ใ€ๅคฑ่ฆ‹ๅฝ“่ญ˜้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใชใฉไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใ‚’ๅ‘ˆใ™ใ‚‹ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้–ข้€ฃ่„ณ็‚Žใจใ„ใ†็–พๆ‚ฃๅ˜ไฝใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber113
dcterms:identifier1200510NANDO:1200487
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/119-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "Isaacs syndrome" + "Dystrophinopathies" @en
rdfs:label - "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค" + "ใ˜ใ™ใจใ‚ใตใƒใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01804https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00562
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157112.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5508https://www.nanbyou.or.jp/entry/4523
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200486
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016227
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019399http://purl.obolibrary.org/obo/MONDO_0016147
skos:prefLabel - "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค" + "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200511 +
http://nanbyodata.jp/ontology/NANDO_1200488 (rdf:type owl:Class @@ -39990,72 +47589,87 @@

hasNotificationNumber120
- dcterms:description - "ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใฏๆŒ็ถšๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็—‡็Šถใงใ€ไธ€้ƒจใฎๆ‚ฃ่€…ใงใฏ็ญ‹ๅŽ็ธฎใฎๆŒ็ถšใŒ็Ÿญใไธ่ฆๅ‰‡ใงใ‚ใฃใŸใ‚Šใ€้–“ๆญ‡็š„ใƒปๅพ‹ๅ‹•็š„ใซ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆŒ็ถšๆ€งใฎ็•ฐๅธธใช็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Šๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ™ใ“ใจใŒๅคšใ„ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’็—‡ๅ€™ใจใ—ใฆ็คบใ™็–พๆ‚ฃใซใฏๅคšใ€…ใ‚ใ‚‹ใŒใ€้บไผๆ€งใŒใ‚ใ‚Šใ€ไป–ใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใซๅฑžใ•ใชใ„็–พๆ‚ฃ็พคใ‚’้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจๅ‘ผใถใ€‚ใ“ใฎ็พคใฎไธญใซใฏใ€้บไผๅญใŒๆœชใ ๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅคšใ€…ใ‚ใ‚‹ใŒใ€ใ“ใ“ใงใฏ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎใ†ใกๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹็–พๆ‚ฃ็พคใ‚’ๆ‰ฑใ†ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏใ€้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡็Šถใ‚’ๅซใ‚€ๆง˜ใ€…ใช็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€DYTใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็พคใจ้‡‘ๅฑžไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹NBIAใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็–พๆ‚ฃใŒๅคšใใ‚’ๅ ใ‚ใ‚‹ใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏๅนผๅ…ใ‹ใ‚‰ๆˆๅนดๆœŸ๏ผˆ้…ใใฆใ‚‚30ๆญณไปฃ๏ผ‰ใซ็™บ็—‡ใ—ใ€ๅ››่‚ขใ€ไฝ“ๅนนใ€้ ญ้ ธ้ƒจใฎใ„ใšใ‚Œใ‹ใซใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’่ชใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ้€ฒ่กŒๆ€งใซ็—‡็Šถใฎๅข—ๆ‚ชใ‚„ๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ—ใ€ๆญฉ่กŒ้šœๅฎณใ€่ตท็ซ‹้šœๅฎณใ€ๅบงไฝ้šœๅฎณใ‚’ๆฅใ™ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆใฏไป–ใฎไธ้šๆ„้‹ๅ‹•๏ผไพ‹ใˆใฐๆŒฏๆˆฆใ€่ˆž่ธ้‹ๅ‹•ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใชใฉใ‚’ๅŒๆ™‚ใซ็คบใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€็ฒพ็ฅž็™บ้”้…ๆปžใ‚„็Ÿฅ็š„ๆฉŸ่ƒฝๆธ›้€€ใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏ้€ฒ่กŒๆ€งใฎ็—…ๆ…‹ใ‚’็คบใ—ใ€็™บ็—‡่ฆๅ› ใซใคใ„ใฆใฏๆœช่งฃๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ไธ€่ˆฌใซใ€ไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใŒใ€็–พๆ‚ฃใซใ‚ˆใฃใฆใฏๅฏพ็—‡็™‚ๆณ•ใซใ‚ˆใฃใฆ็—‡็Šถใฎไธ€้ƒจใŒ่ปฝๅฟซๅˆใฏ็ทฉ่งฃใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใซใ‚‚็ถ™็ถšๆฒป็™‚ใจ้ฉๅˆ‡ใชๅฏพ็—‡็™‚ๆณ•ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ็ญๅŠใณๅ›ฝ็ซ‹็ฒพ็ฅžใƒป็ฅž็ตŒใ‚ปใƒณใ‚ฟใƒผๅง”่จ—็ ”็ฉถใซใ‚ˆใ‚‹็ ”็ฉถ็ญใซใ‚ˆใ‚Œใฐใ€้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจ่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใฏๅ…จๅ›ฝใง็ด„500ไบบใงใ‚ใ‚‹ใ€‚ใพใŸใ€NBIใ‚ทใƒชใƒผใ‚บใซ้–ขใ™ใ‚‹่ชฟๆŸปใงใฏNBIใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹็—‡ไพ‹ๆ•ฐใฏ100ไพ‹ๆœชๆบ€ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber113
dcterms:identifier1200511NANDO:1200488
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "Hereditary dystonia" + "Duchenne muscular dystrophy" @en
rdfs:label - "้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใงใ‚…ใ—ใ‡ใ‚“ใฌใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00831http://nanbyodata.jp/ontology/NANDO_2200856
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3509
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01963
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200487
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010679
skos:prefLabel - "้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200512 +
http://nanbyodata.jp/ontology/NANDO_1200489 (rdf:type owl:Class @@ -40063,60 +47677,87 @@

hasNotificationNumber120hasNotificationNumber113
dcterms:identifier1200512NANDO:1200489
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "DYT1 dystonia" + "Becker muscular dystrophy" @en
rdfs:label - "DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ในใฃใ‹ใƒผใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://nanbyodata.jp/ontology/NANDO_2200865
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3302
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01964
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200487
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010311
skos:prefLabel - "DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200513 +
http://nanbyodata.jp/ontology/NANDO_1200490 (rdf:type owl:Class @@ -40124,60 +47765,82 @@

hasNotificationNumber120hasNotificationNumber113
dcterms:identifier1200513NANDO:1200490
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "DYT2 dystonia" + "Limb-girdle muscular dystrophy" @en
rdfs:label - "DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ—ใŸใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://nanbyodata.jp/ontology/NANDO_2200858
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00593
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200486
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016971
skos:prefLabel - "DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - - - - - - - - - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200514 +
http://nanbyodata.jp/ontology/NANDO_1200491 (rdf:type owl:Class @@ -40185,91 +47848,82 @@

hasNotificationNumber120hasNotificationNumber113
dcterms:identifier1200514NANDO:1200491
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "DYT3 dystonia" + "Facioscapulohumeral muscular dystrophy" @en
rdfs:label - "DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใŒใ‚“ใ‚ใ‚“ใ‘ใ‚“ใ“ใ†ใ˜ใ‚‡ใ†ใ‚ใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3579http://nanbyodata.jp/ontology/NANDO_2200859
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00591
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511
- skos:altLabel - "X ๆŸ“่‰ฒไฝ“้€ฃ้Ž–ใ‚ทใ‚™ใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒใ‚šใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚นใƒ " - @jahttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
- skos:altLabel - "X-linked dystonia-parkinsonism" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
- skos:altLabel - "lubag" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200486
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010747http://purl.obolibrary.org/obo/MONDO_0001347
skos:prefLabel - "DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200515 +
http://nanbyodata.jp/ontology/NANDO_1200492 (rdf:type owl:Class @@ -40277,60 +47931,82 @@

hasNotificationNumber120hasNotificationNumber113
dcterms:identifier1200515NANDO:1200492
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "DYT4 dystonia" + "Emery-Dreifuss muscular dystrophy" @en
rdfs:label - "DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใˆใ‚ใ‚Šใƒผใƒปใฉใ‚Œใ„ใตใ™ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://nanbyodata.jp/ontology/NANDO_2200857
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00563
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200486
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016830
skos:prefLabel - "DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - - - - - - - - - - - - - - - - - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200516 +
http://nanbyodata.jp/ontology/NANDO_1200493 (rdf:type owl:Class @@ -40338,107 +48014,82 @@

hasNotificationNumber120hasNotificationNumber113
dcterms:identifier1200516NANDO:1200493
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "DYT5 dystonia" + "Oculopharyngeal muscular dystrophy" @en
rdfs:label - "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใŒใ‚“ใ„ใ‚“ใจใ†ใใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1105
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511
- skos:altLabel - "DYT14 dystonia" - @en
- skos:altLabel - "DYT14ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" - @ja
- skos:altLabel - "Dopamine-responsive dystonia" - @enhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00704
- skos:altLabel - "Segawa syndrome" - @en + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
- skos:altLabel - "ใƒ‰ใƒ‘ๅๅฟœๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" - @ja + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
- skos:altLabel - "็€ฌๅท็—…" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200486
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016812http://purl.obolibrary.org/obo/MONDO_0008116
skos:prefLabel - "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200517 +
http://nanbyodata.jp/ontology/NANDO_1200494 (rdf:type owl:Class @@ -40446,60 +48097,87 @@

hasNotificationNumber120hasNotificationNumber113
dcterms:identifier1200517NANDO:1200494
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "DYT6 dystonia" + "Fukuyama type congenital muscular dystrophy" @en
rdfs:label - "DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใตใใ‚„ใพใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://nanbyodata.jp/ontology/NANDO_2200860
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2665
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01957
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200486
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009678
skos:prefLabel - "DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200518 +
http://nanbyodata.jp/ontology/NANDO_1200495 (rdf:type owl:Class @@ -40507,60 +48185,89 @@

hasNotificationNumber120hasNotificationNumber113
dcterms:identifier1200518NANDO:1200495
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/113-201704-kojin.pdf
rdfs:label - "DYT7 dystonia" + "Myotonic dystrophy" @en
rdfs:label - "DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใใ‚“ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://nanbyodata.jp/ontology/NANDO_2200864
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00568
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157176.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4522
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200486
+ skos:altLabel + "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016107
skos:prefLabel - "DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200519 +
http://nanbyodata.jp/ontology/NANDO_1200496 (rdf:type owl:Class @@ -40568,91 +48275,91 @@

hasNotificationNumber120hasNotificationNumber114
+ dcterms:description + "็ญ‹็ทš็ถญใฎ่ˆˆๅฅฎๆ€ง็•ฐๅธธใซใ‚ˆใ‚‹็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰็พ่ฑกใ‚’ไธปๅพดใจใ—ใ€็ญ‹ใฎๅค‰ๆ€ง๏ผˆใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅค‰ๅŒ–๏ผ‰ใ‚’ไผดใ‚ใชใ„้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใ‚„ๅŽŸๅ› ้บไผๅญใ‹ใ‚‰ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅŒๆง˜ใซ็ญ‹ๅผท็›ด็พ่ฑกใ‚’็คบใ™้–ข้€ฃ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พคใซใฏๅซใ‚ใชใ„ใ€‚" + @ja
dcterms:identifier1200519NANDO:1200496
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdf
rdfs:label - "DYT8 dystonia" + "Non-dystrophic Myotonia" @en
rdfs:label - "DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใฒใ˜ใ™ใจใ‚ใตใƒใƒผใ›ใ„ใฟใŠใจใซใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=292https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01780
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4519
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "PNKD1" - @en
- skos:altLabel - "Paroxysmal nonkinesigenic dyskinesia 1" + "Non-dystrophic myotonia syndrome" @en
- skos:altLabel - "็™บไฝœๆ€ง้ž้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007326http://purl.obolibrary.org/obo/MONDO_0016110
skos:prefLabel - "DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - - - - - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200520 +
http://nanbyodata.jp/ontology/NANDO_1200497 (rdf:type owl:Class @@ -40660,91 +48367,82 @@

hasNotificationNumber120hasNotificationNumber114
dcterms:identifier1200520NANDO:1200497
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdf
rdfs:label - "DYT9 dystonia" + "Myotonia congenita" @en
rdfs:label - "DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใจใซใƒผ" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3809http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2696
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00705
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511
- skos:altLabel - "CSE" - @enhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docx
- skos:altLabel - "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519
- skos:altLabel - "็™บไฝœๆ€ง่ˆž่ธใ‚ขใƒ†ใƒˆใƒผใ‚ทใ‚นใƒป็—™ๆ€งๅฏพ้บป็—บ" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200496
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010983http://purl.obolibrary.org/obo/MONDO_0009710
skos:prefLabel - "DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200521 +
http://nanbyodata.jp/ontology/NANDO_1200498 (rdf:type owl:Class @@ -40752,91 +48450,84 @@

hasNotificationNumber120hasNotificationNumber114
dcterms:identifier1200521NANDO:1200498
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdf
rdfs:label - "DYT10 dystonia" + "Thomsen disease" @en
rdfs:label - "DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใจใ‚€ใœใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒˆใƒ ใ‚ผใƒณ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=478http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2696
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4519
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511
- skos:altLabel - "EKD1" - @en
- skos:altLabel - "Episodic kinesigenic dyskinesia 1" - @enhttp://nanbyodata.jp/ontology/NANDO_1200497
skos:altLabel - "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1" + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007494http://purl.obolibrary.org/obo/MONDO_0009710
skos:prefLabel - "DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใƒˆใƒ ใ‚ผใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - - - - - + - - + + - - + + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200522 +
http://nanbyodata.jp/ontology/NANDO_1200499 (rdf:type owl:Class @@ -40844,101 +48535,84 @@

hasNotificationNumber120hasNotificationNumber114
dcterms:identifier1200522NANDO:1200499
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdf
rdfs:label - "DYT11 dystonia" + "Becker disease" @en
rdfs:label - "DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ในใฃใ‹ใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒƒใ‚ซใƒผ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2701
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docx
- skos:altLabel - "MDS" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519
- skos:altLabel - "Myoclonus-dystonia syndrome" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200497
skos:altLabel - "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใƒปใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000903
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008044
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009532
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018881http://purl.obolibrary.org/obo/MONDO_0009715
skos:prefLabel - "DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใƒ™ใƒƒใ‚ซใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200523 +
http://nanbyodata.jp/ontology/NANDO_1200500 (rdf:type owl:Class @@ -40946,60 +48620,79 @@

hasNotificationNumber120hasNotificationNumber114
dcterms:identifier1200523NANDO:1200500
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdf
rdfs:label - "DYT12 dystonia" + "Sodium channel myotonia" @en
rdfs:label - "DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใชใจใ‚Šใ†ใ‚€ใกใ‚ƒใญใ‚‹ใฟใŠใจใซใƒผ" + @ja-Hira
+ rdfs:label + "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4519
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200496
+ skos:altLabel + "ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018959
skos:prefLabel - "DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200524 +
http://nanbyodata.jp/ontology/NANDO_1200501 (rdf:type owl:Class @@ -41007,77 +48700,82 @@

hasNotificationNumber120hasNotificationNumber114
dcterms:identifier1200524NANDO:1200501
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/114-201704-kojin.pdf
rdfs:label - "Rapid-onset dystonia-parkinsonism" + "Paramyotonia congenita" @en
rdfs:label - "ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ " + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฑใ‚‰ใฟใŠใจใซใƒผ" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=480http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1175
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00743
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157271.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200523 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4519
- skos:altLabel - "RDP" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200496
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007496http://purl.obolibrary.org/obo/MONDO_0008195
skos:prefLabel - "ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ " + "ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ" @ja
- - + - - + + - - + + - - + + + "ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ" + @ja-Hira - - + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200525 +
http://nanbyodata.jp/ontology/NANDO_1200502 (rdf:type owl:Class @@ -41085,87 +48783,86 @@

hasNotificationNumber120hasNotificationNumber115
- dcterms:identifier1200525 + dcterms:description + "็™บไฝœๆ€งใฎ้ชจๆ ผ็ญ‹ใฎ่„ฑๅŠ›ใƒป้บป็—บใ‚’ๆฅใ™้บไผๆ€ง็–พๆ‚ฃใงใ€่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็™บไฝœๆ™‚ใฎ่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚ŠไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใจ้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + @ja
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf + dcterms:identifierNANDO:1200502
rdfs:label - "alternating hemiplegia of childhood" + "Hereditary periodic paralysis" @en
rdfs:label - "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3254 + rdfs:label + "้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00998https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00215
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157132.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4528
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200523http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "AHC" + "Familial periodic paralysis" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010264
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016241http://purl.obolibrary.org/obo/MONDO_0000995
skos:prefLabel - "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + "้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" @ja
- - + - - + + - + - + + "ใ„ใงใ‚“ใ›ใ„ใฆใ„ใ‹ใ‚Šใ†ใ‚€ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200526 +
http://nanbyodata.jp/ontology/NANDO_1200503 (rdf:type owl:Class @@ -41173,77 +48870,79 @@

hasNotificationNumber120hasNotificationNumber115
dcterms:identifier1200526NANDO:1200503
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/115-01-201704-kojin.pdf
rdfs:label - "cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss" + "Hereditary hypokalemic periodic paralysis" @en
rdfs:label - "ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3861 + rdfs:label + "้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157132.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4529
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200523http://nanbyodata.jp/ontology/NANDO_1200502
skos:altLabel - "CAPOS" + "Hereditary hypokalaemic periodic paralysis" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011038http://purl.obolibrary.org/obo/MONDO_0008223
skos:prefLabel - "ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ" + "้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200527 +
http://nanbyodata.jp/ontology/NANDO_1200504 (rdf:type owl:Class @@ -41251,60 +48950,98 @@

hasNotificationNumber120hasNotificationNumber115
dcterms:identifier1200527NANDO:1200504
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/115-02-201704-kojin.pdf
rdfs:label - "DYT13 dystonia" + "Hereditary hyperkalemic periodic paralysis" @en
rdfs:label - "DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ„ใงใ‚“ใ›ใ„ใ“ใ†ใ‹ใ‚Šใ†ใ‚€ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1203
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157132.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4529
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200502
+ skos:altLabel + "Hereditary hyperkalaemic periodic paralysis" + @en
+ skos:altLabel + "ๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + @ja
+ skos:altLabel + "้บไผๆ€งๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008224
skos:prefLabel - "DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ" @ja
- - + - - - - - - + + - - + + + + + + + + + + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200528 +
http://nanbyodata.jp/ontology/NANDO_1200505 (rdf:type owl:Class @@ -41312,60 +49049,79 @@

hasNotificationNumber120
- dcterms:identifier1200528hasNotificationNumber116
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf + dcterms:description + "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจใฏใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใƒป็ต่†œ็‚Žใชใฉใฎใ‚ขใƒˆใƒ”ใƒผ็ด ๅ› ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹่„Š้ซ„็‚Žใงใ‚ใ‚‹ใ€‚1997ๅนดใซๅ‰่‰ฏใ‚‰ใŒ๏ผ”ไพ‹ใฎ้ซ˜IgE่ก€็—‡ใจใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ‚’ไผดใฃใŸใ€ๅ››่‚ขใฎ็•ฐๅธธๆ„Ÿ่ฆš๏ผˆใ˜ใ‚“ใ˜ใ‚“ๆ„Ÿ๏ผ‰ใ‚’ๅ‘ˆใ—้ š้ซ„ๅพŒ็ดขใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹่„Š้ซ„็‚Žใ‚’ๅ ฑๅ‘Šใ—ใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจๅ‘ฝๅใ—ใŸใ€‚" + @ja
+ dcterms:identifierNANDO:1200505
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/116-201704-kojin.pdf
rdfs:label - "DYT15 dystonia" + "Atopic myelitis" @en
rdfs:label - "DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ‚ใจใดใƒผใ›ใ„ใ›ใใšใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01863
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157115.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4723
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1100001
skos:prefLabel - "DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200529 +
http://nanbyodata.jp/ontology/NANDO_1200506 (rdf:type owl:Class @@ -41373,60 +49129,84 @@

hasNotificationNumber120hasNotificationNumber117
+ dcterms:description + "่„Š้ซ„ๅ†…ใซ็ฉบๆดž๏ผˆsyrinx๏ผ‰ใŒๅฝขๆˆใ•ใ‚Œใ€ๅฐ่„ณ็—‡็Šถใ€ไธ‹ไฝ่„ณ็ฅž็ตŒ็—‡็Šถใ€ไธŠไธ‹่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆธฉ็—›่ฆš้šœๅฎณใ€่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ€ๅดๅผฏ็—‡ใชใฉๅคšๅฝฉใช็ฅž็ตŒ็—‡็Šถใ€ๅ…จ่บซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็จฎใ€…ใฎๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200529NANDO:1200506
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/117-201704-kojin.pdf
rdfs:label - "DYT16 dystonia" + "Syringomyelia" @en
rdfs:label - "DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„Š้ซ„็ฉบๆดž็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01675
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157222.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/133
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017987
skos:prefLabel - "DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "่„Š้ซ„็ฉบๆดž็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200530 +
http://nanbyodata.jp/ontology/NANDO_1200507 (rdf:type owl:Class @@ -41434,60 +49214,72 @@

hasNotificationNumber120hasNotificationNumber117
dcterms:identifier1200530NANDO:1200507
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/117-201704-kojin.pdf
rdfs:label - "DYT17 dystonia" + "symptomatic Syringomyelia" @en
rdfs:label - "DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157222.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/133
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200506
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017987
skos:prefLabel - "DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" @ja
- - + - - + + - + - + + "ใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200531 +
http://nanbyodata.jp/ontology/NANDO_1200508 (rdf:type owl:Class @@ -41495,91 +49287,72 @@

hasNotificationNumber120hasNotificationNumber117
dcterms:identifier1200531NANDO:1200508
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/117-201704-kojin.pdf
rdfs:label - "DYT18 dystonia" + "asymptomatic Syringomyelia" @en
rdfs:label - "DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7093 + rdfs:label + "็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157222.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/133
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511
- skos:altLabel - "PED" - @en
- skos:altLabel - "Paroxysmal execise-induced dyskinesia" - @en
- skos:altLabel - "็™บไฝœๆ€งๅŠดไฝœ่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข" - @jahttp://nanbyodata.jp/ontology/NANDO_1200506
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012805http://purl.obolibrary.org/obo/MONDO_0017987
skos:prefLabel - "DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - - - - + - - - - - - + + - +
http://nanbyodata.jp/ontology/nando#1200532 +
http://nanbyodata.jp/ontology/NANDO_1200509 (rdf:type owl:Class @@ -41587,91 +49360,89 @@

hasNotificationNumber120hasNotificationNumber118
+ dcterms:description + "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พ็—…๏ผˆ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณ๏ผ‰ใฏใ€่„Š้ซ„้ซ„่†œ็˜คใ€็„ก่„ณ็—‡ใ€่„ณ็•™ใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใ€‚็„ก่„ณ็—‡ใจ่„ณ็•™ใฏ้ŽๅŠๆ•ฐใŒ่‡ช็„ถๆต็”ฃใ™ใ‚‹ใ‹ใ€ๅฆŠๅจ ไธญ็ตถใ‚’ใ†ใ‘ใ‚‹ใ‹ใ€ๅ‡บ็”Ÿใ—ใฆใ‚‚24ๆ™‚้–“ไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใฎไบŒๅˆ†่„ŠๆคŽใฏ้ก•ๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida aperta๏ผ‰ใจๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida occulta๏ผ‰ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹ใ€‚่„Š้ซ„้ซ„่†œ็˜คใฏๅ‰่€…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใฏใ€็™บ็”Ÿๅญฆ็š„ใซ็›ธ้•ใ™ใ‚‹ใฎใงใ€ๅŽŸๅ› ใ€่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆณ•ใชใฉใ‚’็”ปไธ€็š„ใซ่ญฐ่ซ–ใ™ใ‚‹ใ“ใจใฏ้ฉๅˆ‡ใงใชใ„ใ€‚็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฏใ€ๅฆŠๅจ ๏ผ–้€ฑ๏ผˆๅ—็ฒพ๏ผ”้€ฑๅพŒ๏ผ‰้ ƒใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅฆŠๅจ ๅ‰ใ‹ใ‚‰่‘‰้…ธใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ50๏ฝž70๏ผ…ใ‚’้˜ฒๆญขใงใใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใฏๆฐด้ ญ็—‡ใ€่„ŠๆคŽๅดๅผฏใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆฉŸ่ƒฝ้šœๅฎณใ€ๆŽ’ไพฟ้šœๅฎณใชใฉใŒไธป่ฆใช่‡จๅบŠ็—‡็Šถใงใ‚ใ‚Šใ€่„ณ็ฅž็ตŒๅค–็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€ๆณŒๅฐฟๅ™จ็ง‘ใ€ๅฐๅ…็ง‘ใ€ใƒชใƒใƒ“ใƒชใƒ†ใƒผใ‚ทใƒงใƒณ็ง‘ใชใฉใฎๅŒ…ๆ‹ฌ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200532NANDO:1200509
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/118-201704-kojin.pdf
rdfs:label - "DYT19 dystonia" + "Myelomeningocele" @en
rdfs:label - "DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "่„Š้ซ„้ซ„่†œ็˜ค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6888http://nanbyodata.jp/ontology/NANDO_2200814
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157223.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4633
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511
- skos:altLabel - "EKD2" - @enhttp://nanbyodata.jp/ontology/NANDO_1100001
- skos:altLabel - "Episodic kinesigenic dyskinesia 2" - @en
- skos:altLabel - "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข2" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017069
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012603http://purl.obolibrary.org/obo/MONDO_0019773
skos:prefLabel - "DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "่„Š้ซ„้ซ„่†œ็˜ค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200533 +
http://nanbyodata.jp/ontology/NANDO_1200510 (rdf:type owl:Class @@ -41679,84 +49450,84 @@

hasNotificationNumber120hasNotificationNumber119
+ dcterms:description + "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พคใฏใ€ๆŒ็ถšๆ€งใฎๅ››่‚ขใƒป่บฏๅนนใฎ็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ใƒŸใ‚ชใ‚ญใƒŸใ‚ขใ€ใƒ‹ใƒฅใƒผใƒญใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ปไฝไพๅญ˜ๆ€งใ‚ซใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“๏ผ‰ใŒ้–ข้€ฃใ™ใ‚‹ใ€‚ใ‚ˆใ‚Š้‡็—‡ๅž‹ใฎใƒขใƒซใƒใƒณ็—‡ๅ€™็พคใฏใ€ไธŠ่จ˜ใซๅŠ ใˆใ€ไธๆ•ด่„ˆใ€ๅฐฟๅคฑ็ฆใชใฉใฎๅคšๅฝฉใช่‡ชๅพ‹็ฅž็ตŒ็ณปใฎ็—‡็Šถใจ้‡ๅบฆใฎไธ็œ ใ€ๅคœ้–“่กŒๅ‹•็•ฐๅธธใ€ๅนป่ฆšใ€่จ˜้Š˜ๅŠ›้šœๅฎณใชใฉใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€ๅฅๅฟ˜ใ€ๅคฑ่ฆ‹ๅฝ“่ญ˜้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใชใฉไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใ‚’ๅ‘ˆใ™ใ‚‹ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้–ข้€ฃ่„ณ็‚Žใจใ„ใ†็–พๆ‚ฃๅ˜ไฝใ‚‚ใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200533NANDO:1200510
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/119-201704-kojin.pdf
rdfs:label - "DYT20 dystonia" + "Isaacs syndrome" @en
rdfs:label - "DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ‚ใ„ใ–ใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6915https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01804
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157112.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/5508
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511
- skos:altLabel - "PNKD2" - @en
- skos:altLabel - "Paroxysmal nonkinesigenic dyskinesia 2" - @enhttp://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012629http://purl.obolibrary.org/obo/MONDO_0019399
skos:prefLabel - "DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค" @ja
- - + - + + + + + - + + "Hereditary dystonia" + @en + "ใ„ใงใ‚“ใ›ใ„ใ˜ใ™ใจใซใ‚" + @ja-Hira + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200534 +
http://nanbyodata.jp/ontology/NANDO_1200511 (rdf:type owl:Class @@ -41764,13 +49535,20 @@

hasNotificationNumberhasNotificationNumber 120
+ dcterms:description + "ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใฏๆŒ็ถšๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็—‡็Šถใงใ€ไธ€้ƒจใฎๆ‚ฃ่€…ใงใฏ็ญ‹ๅŽ็ธฎใฎๆŒ็ถšใŒ็Ÿญใไธ่ฆๅ‰‡ใงใ‚ใฃใŸใ‚Šใ€้–“ๆญ‡็š„ใƒปๅพ‹ๅ‹•็š„ใซ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆŒ็ถšๆ€งใฎ็•ฐๅธธใช็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Šๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ™ใ“ใจใŒๅคšใ„ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’็—‡ๅ€™ใจใ—ใฆ็คบใ™็–พๆ‚ฃใซใฏๅคšใ€…ใ‚ใ‚‹ใŒใ€้บไผๆ€งใŒใ‚ใ‚Šใ€ไป–ใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใซๅฑžใ•ใชใ„็–พๆ‚ฃ็พคใ‚’้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจๅ‘ผใถใ€‚ใ“ใฎ็พคใฎไธญใซใฏใ€้บไผๅญใŒๆœชใ ๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅคšใ€…ใ‚ใ‚‹ใŒใ€ใ“ใ“ใงใฏ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎใ†ใกๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹็–พๆ‚ฃ็พคใ‚’ๆ‰ฑใ†ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏใ€้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡็Šถใ‚’ๅซใ‚€ๆง˜ใ€…ใช็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€DYTใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็พคใจ้‡‘ๅฑžไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹NBIAใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็–พๆ‚ฃใŒๅคšใใ‚’ๅ ใ‚ใ‚‹ใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏๅนผๅ…ใ‹ใ‚‰ๆˆๅนดๆœŸ๏ผˆ้…ใใฆใ‚‚30ๆญณไปฃ๏ผ‰ใซ็™บ็—‡ใ—ใ€ๅ››่‚ขใ€ไฝ“ๅนนใ€้ ญ้ ธ้ƒจใฎใ„ใšใ‚Œใ‹ใซใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’่ชใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ้€ฒ่กŒๆ€งใซ็—‡็Šถใฎๅข—ๆ‚ชใ‚„ๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ—ใ€ๆญฉ่กŒ้šœๅฎณใ€่ตท็ซ‹้šœๅฎณใ€ๅบงไฝ้šœๅฎณใ‚’ๆฅใ™ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆใฏไป–ใฎไธ้šๆ„้‹ๅ‹•๏ผไพ‹ใˆใฐๆŒฏๆˆฆใ€่ˆž่ธ้‹ๅ‹•ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใชใฉใ‚’ๅŒๆ™‚ใซ็คบใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€็ฒพ็ฅž็™บ้”้…ๆปžใ‚„็Ÿฅ็š„ๆฉŸ่ƒฝๆธ›้€€ใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏ้€ฒ่กŒๆ€งใฎ็—…ๆ…‹ใ‚’็คบใ—ใ€็™บ็—‡่ฆๅ› ใซใคใ„ใฆใฏๆœช่งฃๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ไธ€่ˆฌใซใ€ไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใŒใ€็–พๆ‚ฃใซใ‚ˆใฃใฆใฏๅฏพ็—‡็™‚ๆณ•ใซใ‚ˆใฃใฆ็—‡็Šถใฎไธ€้ƒจใŒ่ปฝๅฟซๅˆใฏ็ทฉ่งฃใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใซใ‚‚็ถ™็ถšๆฒป็™‚ใจ้ฉๅˆ‡ใชๅฏพ็—‡็™‚ๆณ•ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ็ญๅŠใณๅ›ฝ็ซ‹็ฒพ็ฅžใƒป็ฅž็ตŒใ‚ปใƒณใ‚ฟใƒผๅง”่จ—็ ”็ฉถใซใ‚ˆใ‚‹็ ”็ฉถ็ญใซใ‚ˆใ‚Œใฐใ€้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจ่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใฏๅ…จๅ›ฝใง็ด„500ไบบใงใ‚ใ‚‹ใ€‚ใพใŸใ€NBIใ‚ทใƒชใƒผใ‚บใซ้–ขใ™ใ‚‹่ชฟๆŸปใงใฏNBIใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹็—‡ไพ‹ๆ•ฐใฏ100ไพ‹ๆœชๆบ€ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200534NANDO:1200511
@@ -41781,15 +49559,27 @@

rdfs:label - "NBIA1" - @ja
rdfs:label - "NBIA๏ผ‘" - @en
+ rdfs:label + "้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00831
@@ -41804,20 +49594,25 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044807
skos:prefLabel - "NBIA1" + "้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ1ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + - - - - - + - - -
http://nanbyodata.jp/ontology/nando#1200535 +
http://nanbyodata.jp/ontology/NANDO_1200512 (rdf:type owl:Class @@ -41825,13 +49620,13 @@

hasNotificationNumberhasNotificationNumber 120
dcterms:identifier1200535NANDO:1200512
@@ -41842,20 +49637,27 @@

rdfs:label - "classical PKAN" + "DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 1" @en
rdfs:label - "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2308http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=476
@@ -41865,134 +49667,84 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200534http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Classical pantothenate kinase-associated neurodegeneration" + "DYT1" @en
skos:altLabel - "Hallervorden-Spatz syndrome " + "Dystonia 1, torsion, autosomal dominant" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009319
- skos:prefLabel + skos:altLabel - "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰" - @ja
- - - - - - - - - - - - - - + "Dystonia musculorum deformans (DMD)" + @en - + - + - - - - - - - - - - - - - - - - + "SLC30A10 deficiency" + @en + "ๆ—ฉๆœŸ็™บ็—‡ๆป่ปขใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja - + - +
http://nanbyodata.jp/ontology/nando#1200536 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber120
- dcterms:identifier1200536
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
- rdfs:label + skos:altLabel - "Atypical PKAN" + "Oppenheim's dystonia" @en
- rdfs:label + skos:altLabel - "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2308
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200534
skos:altLabel - "Atypical pantothenate kinase-associated neurodegeneration" + "Torsion dystonia-1" @en
skos:altLabel - "Hallervorden-Spatz syndrome " - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009319http://purl.obolibrary.org/obo/MONDO_0007492
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016305http://purl.obolibrary.org/obo/MONDO_0044808
skos:prefLabel - "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" + "DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ2ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + + "SLC39A14 deficiency" + @en + + + + - +
http://nanbyodata.jp/ontology/nando#1200537 +
http://nanbyodata.jp/ontology/NANDO_1200513 (rdf:type owl:Class @@ -42000,13 +49752,13 @@

hasNotificationNumberhasNotificationNumber 120
dcterms:identifier1200537NANDO:1200513
@@ -42017,20 +49769,27 @@

rdfs:label - "NBIA2a" + "DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 2" @en
rdfs:label - "NBIA2a" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2726http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2126
@@ -42040,51 +49799,58 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Classical INAD" + "DYT2" @en
skos:altLabel - "Classical Infantile neuroaxonal dystrophy" + "Dystonia 2, autosomal recessive" @en
skos:altLabel - "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅคๅ…ธๅž‹๏ผ‰" - @ja
+ skos:altLabel + "Torsion dystonia-2" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024457http://purl.obolibrary.org/obo/MONDO_0009141
skos:prefLabel - "NBIA2a" + "DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ3ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200538 +
http://nanbyodata.jp/ontology/NANDO_1200514 (rdf:type owl:Class @@ -42092,13 +49858,13 @@

hasNotificationNumberhasNotificationNumber 120
dcterms:identifier1200538NANDO:1200514
@@ -42109,20 +49875,27 @@

rdfs:label - "NBIA2b" + "DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 3" @en
rdfs:label - "NBIA2b" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6726http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3579
@@ -42132,51 +49905,72 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Atypical INAD" + "DYT3" @en
skos:altLabel - "Atypical Infantile neuroaxonal dystrophy" + "Dystonia 3, torsion, X-linked" @en
skos:altLabel - "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" + "X-linked dystonia-parkinsonism" + @en
+ skos:altLabel + "XDP" + @en
+ skos:altLabel + "XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚นใƒ " @ja
+ skos:altLabel + "lubag" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012444http://purl.obolibrary.org/obo/MONDO_0010747
skos:prefLabel - "NBIA2b" + "DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ4ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + + "Dystonia 4, torsion, autosomal dominant" + @en - +
http://nanbyodata.jp/ontology/nando#1200539 +
http://nanbyodata.jp/ontology/NANDO_1200515 (rdf:type owl:Class @@ -42184,13 +49978,13 @@

hasNotificationNumberhasNotificationNumber 120
dcterms:identifier1200539NANDO:1200515
@@ -42201,20 +49995,27 @@

rdfs:label - "NBIA๏ผ“" + "DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 4" @en
rdfs:label - "NBIA๏ผ“" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4426http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=477
@@ -42224,44 +50025,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Neuroferritinopathy" + "DYT4" @en
skos:altLabel - "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011638http://purl.obolibrary.org/obo/MONDO_0007493
skos:prefLabel - "NBIA๏ผ“" + "DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ5ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200540 +
http://nanbyodata.jp/ontology/NANDO_1200516 (rdf:type owl:Class @@ -42269,13 +50070,13 @@

hasNotificationNumberhasNotificationNumber 120
dcterms:identifier1200540NANDO:1200516
@@ -42286,20 +50087,27 @@

rdfs:label - "NBIA๏ผ”" + "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 5" @en
rdfs:label - "NBIA๏ผ”" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4233http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=479
@@ -42309,51 +50117,84 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Aceruloplasminemia" + "DRD" @en
skos:altLabel - "Hereditary ceruloplasmin deficiency " + "DYT5" @en
skos:altLabel - "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡" + "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ skos:altLabel + "Dystonia, DOPA-responsive" + @en
+ skos:altLabel + "Segawa syndrome" + @en
+ skos:altLabel + "ใƒ‰ใƒ‘ๅๅฟœๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ skos:altLabel + "็€ฌๅท็—…" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011426http://purl.obolibrary.org/obo/MONDO_0007495
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016812
skos:prefLabel - "NBIA๏ผ”" + "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ6ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200541 +
http://nanbyodata.jp/ontology/NANDO_1200517 (rdf:type owl:Class @@ -42361,13 +50202,13 @@

hasNotificationNumberhasNotificationNumber 120
dcterms:identifier1200541NANDO:1200517
@@ -42378,20 +50219,27 @@

rdfs:label - "FAHN" + "DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 6 " @en
rdfs:label - "FAHN" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7115http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4084
@@ -42401,56 +50249,44 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4898https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200511http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Fatty Acid Hydroxylase-associated neurodegeneration" + "DYT6" @en
skos:altLabel - "dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" + "Dystonia 6, torsion" @en
- skos:altLabel - "่„‚่‚ช้…ธๆฐด้…ธๅŒ–้…ต็ด ๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012866
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017999http://purl.obolibrary.org/obo/MONDO_0011264
skos:prefLabel - "FAHN" + "DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + "DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja + "Dystonia 7" + @en - - + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200542 +
http://nanbyodata.jp/ontology/NANDO_1200518 (rdf:type owl:Class @@ -42458,82 +50294,98 @@

hasNotificationNumber121
- dcterms:description - "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ใฏใ€ใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–้บไผๅญๅค‰็•ฐใซ้–ข้€ฃใ™ใ‚‹ๅคšๅฝฉใช็ฅž็ตŒ็—‡ๅ€™ใ‚’ๆ•ฐๅๅนดใซใ‚ใŸใ‚Š่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใฏๅŸบๅบ•ๆ ธ็—…ๅค‰ใ‚’ๅๆ˜ ใ—ใฆT2ๅปถ้•ทใจ็Ÿญ็ธฎใŒๆททๅœจใ™ใ‚‹ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใจใ•ใ‚Œใ€็—…็†ๅญฆ็š„ใซใฏๅค‰็•ฐใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใ€ๆญฃๅธธใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใŠใ‚ˆใณ้‡้Ž–ใŒใ€็ฅž็ตŒ็ดฐ่ƒžไฝ“ๅŠใณๆ ธๅ†…ใ€ใ‚ฐใƒชใ‚ข็ดฐ่ƒžๆ ธๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200542NANDO:1200518
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/121-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Neuroferritinopathy" - @en
rdfs:label - "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4426 + rdfs:label + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ7ใ˜ใ™ใจใซใ‚" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01779http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4021
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157213.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4807https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
+ skos:altLabel + " adult-onset focal dystonia" + @en
+ skos:altLabel + "DYT7" + @en
+ skos:altLabel + "Dystonia 7, torsion" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011638http://purl.obolibrary.org/obo/MONDO_0011200
skos:prefLabel - "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡" + "DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ8ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200543 +
http://nanbyodata.jp/ontology/NANDO_1200519 (rdf:type owl:Class @@ -42541,84 +50393,105 @@

hasNotificationNumber122
- dcterms:description - "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ใฏใ€้‰„๏ผˆใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณ๏ผ‰ใŒ่„ณ่กจใ€่„ณๅฎŸ่ณชใซๆฒˆ็€ใ—ใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่„ณใ€่„ณๅนนใชใฉๅพŒ้ ญ่“‹็ชฉใ‚„่„Š้ซ„ใ‚’ไธญๅฟƒใซไธญๆžข็ฅž็ตŒ็ณปใซใณใพใ‚“ๆ€งใƒปๅฏพ็งฐๆ€งใซ็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆๅคๅ…ธๅž‹๏ผ‰ใจใ€้™ๅฑ€ๆ€ง๏ผˆไพ‹๏ผšไธ€ๅดใฎๅ‰้ ญ่‘‰ใชใฉ๏ผ‰ใซ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใฎ๏ผ’็จฎ้กžใŒใ‚ใ‚Šใ€้€šๅธธใฏๅ‰่€…ใ‚’ๆŒ‡ใ™ใ€‚ๅคๅ…ธๅž‹ใฎ่‡จๅบŠ็—‡ๅ€™ใจใ—ใฆๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ‚’้ซ˜ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ไธ€้ƒจใซใฏใ€่„ณๅ‹•่„ˆ็˜คใ€่„ณๅ‹•้™่„ˆ็˜ปใ€ใ‚ขใƒŸใƒญใ‚คใƒ‰่ก€็ฎก็—‡ใ€่…ซ็˜ใ€ๅค–ๅ‚ทใ€่„ณ่„Š้ซ„ๆถฒๆธ›ๅฐ‘็—‡ใ€่„ŠๆŸฑ็ฎกๅ†…ใฎๅšข่ƒžๆ€ง็–พๆ‚ฃใƒป็กฌ่†œ็•ฐๅธธ็—‡ใชใฉใฎๅˆไฝตใ‚’่ชใ‚ใ€ๅŽŸๅ› ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ˜Žใ‚‰ใ‹ใช้–ข้€ฃ็–พๆ‚ฃใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ๅ ดๅˆใŒๅคšใ„ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200543NANDO:1200519
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/122-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Superficial siderosis" + "DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 8" @en
rdfs:label - "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01846http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=292
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157264.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4810https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Brain table hemosiderosis" + "DYT8" + @en
+ skos:altLabel + "PNKD1" + @en
+ skos:altLabel + "Paroxysmal nonkinesigenic dyskinesia 1" @en
+ skos:altLabel + "็™บไฝœๆ€ง้ž้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016594http://purl.obolibrary.org/obo/MONDO_0007326
skos:prefLabel - "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡" + "DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + "DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja + "Dystonia 9" + @en - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200544 +
http://nanbyodata.jp/ontology/NANDO_1200520 (rdf:type owl:Class @@ -42626,103 +50499,105 @@

hasNotificationNumber123
- dcterms:description - "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆCARASIL๏ผ‰ใฏใ€้’ๅนดๆœŸใ‹ใ‚‰่‹ฅๅนดๆˆไบบๆœŸใซใ€้€ฒ่กŒๆ€งใฎๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใ€ๅคš็™บๆ€งใƒฉใ‚ฏใƒŠๆข—ๅกžใ€็ฆฟ้ ญใ€ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœฌ้‚ฆใง๏ผ—ๅฎถ็ณป๏ผ˜ไพ‹ใ€ๆœฌ้‚ฆไปฅๅค–ใง๏ผ•ไพ‹๏ผ•ๅฎถ็ณปใฎ้บไผๅญ่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200544NANDO:1200520
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/123-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" - @en
rdfs:label - "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3650 + rdfs:label + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ9ใ˜ใ™ใจใซใ‚" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01757http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3809
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157252.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4549https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis" + "CSE " @en
skos:altLabel - "Cerebral autosomal recessive arteriopathy" + "DYT9" @en
skos:altLabel - "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis" + "Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity" @en
+ skos:altLabel + "็™บไฝœๆ€ง่ˆž่ธใ‚ขใƒ†ใƒˆใƒผใ‚ทใ‚นใƒป็—™ๆ€งๅฏพ้บป็—บ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010829http://purl.obolibrary.org/obo/MONDO_0010983
skos:prefLabel - "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡" + "DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ10ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200545 +
http://nanbyodata.jp/ontology/NANDO_1200521 (rdf:type owl:Class @@ -42730,86 +50605,105 @@

hasNotificationNumber124
- dcterms:description - "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡๏ผˆCerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy๏ผšCADASIL๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ—ใ€่‹ฅๅนดๆœŸใ‹ใ‚‰ๅ‰ๅ…†ใ‚’ไผดใ†็‰‡้ ญ็—›ใŒๅ…ˆ่กŒใ€CTใƒปMRIใงๅŒๅฎšใ•ใ‚Œใ‚‹ๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใŒๅพใ€…ใซ้€ฒ่กŒใ€ไธญๅนดๆœŸใ‹ใ‚‰่„ณๅ’ไธญๅฑ้™บๅ› ๅญใŒใชใใฆใ‚‚็šฎ่ณชไธ‹็™ฝ่ณชใซใƒฉใ‚ฏใƒŠๆข—ๅกžใ‚’็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ—ใ€ใ†ใค็—‡็Šถใ€่„ณ่ก€็ฎกๆ€ง่ช็Ÿฅ็—‡ใซ่‡ณใ‚‹ใ€‚NOTCH3้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ€็—…็†ๅญฆ็š„ใซ่„ณๅฐ่ก€็ฎกใฎๅนณๆป‘็ญ‹ใฎๅค‰ๆ€งใจใ€้›ป้ก•ใงใ‚ชใ‚นใƒŸใ‚ฆใƒ ใซๆฟƒๆŸ“ใ™ใ‚‹้ก†็ฒ’๏ผˆGOM๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ—ใ€้บไผๅญ่จบๆ–ญๅˆใฏ็—…็†่จบๆ–ญใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200545NANDO:1200521
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/124-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy" + "DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 10" @en
rdfs:label - "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157272.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=478
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4444https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy" + "DYT10" @en
skos:altLabel - "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" + "EKD1" + @en
+ skos:altLabel + "Episodic kinesigenic dyskinesia 1" @en
+ skos:altLabel + "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007432http://purl.obolibrary.org/obo/MONDO_0007494
skos:prefLabel - "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡" + "DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + "DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja + "Dystonia 11" + @en - - + + - + - + - + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200546 +
http://nanbyodata.jp/ontology/NANDO_1200522 (rdf:type owl:Class @@ -42817,72 +50711,100 @@

hasNotificationNumber125
- dcterms:description - "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆhereditary diffuse leukoencephalopathy with spheroid๏ผšHDLS๏ผ‰ใฏใ€ๅคง่„ณ็™ฝ่ณชใ‚’็—…ๅค‰ใฎไธปๅบงใจใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ๅญค็™บไพ‹ใŒๆ•ฐๅคšใๅญ˜ๅœจใ™ใ‚‹ใ€‚1984ๅนดใซใ‚นใ‚ฆใ‚งใƒผใƒ‡ใƒณๅฎถ็ณปใงๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ไธ–็•Œๅ„ๅœฐใซ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚HDLSใฏใ€่„ณ็”Ÿๆคœๅˆใฏๅ‰–ๆคœใซใ‚ˆใ‚‹็ฅž็ตŒ็—…็†ๅญฆ็š„ๆคœๆŸปใซใ‚ˆใ‚Šๅพ“ๆฅ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใŒใ€2012ๅนดใซHDLSใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆไปฅ้™ใฏใ€้บไผๅญๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใŒๅฏ่ƒฝใซใชใฃใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200546NANDO:1200522
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/125-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Hereditary diffuse leukoencephalopathy with spheroid" - @en
rdfs:label - "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01807 + rdfs:label + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ11ใ˜ใ™ใจใซใ‚" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157212.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4498https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
+ skos:altLabel + "DYT11" + @en
+ skos:altLabel + "MDS" + @en
+ skos:altLabel + "Myoclonus-dystonia syndrome" + @en
+ skos:altLabel + "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใƒปใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000903
skos:prefLabel - "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡" + "DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + "DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja + "Dystonia 12" + @en - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200547 +
http://nanbyodata.jp/ontology/NANDO_1200523 (rdf:type owl:Class @@ -42890,82 +50812,84 @@

hasNotificationNumber126
- dcterms:description - "ใƒšใƒชใƒผ๏ผˆPerry๏ผ‰็—‡ๅ€™็พคใฏ้žๅธธใซใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ1975ๅนดใซPerryใ‚‰ใซใ‚ˆใ‚Šๅฎถๆ—ๆ€งใฎใ†ใค็—‡็ŠถๅŠใณใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงๆฌง็ฑณ่ซธๅ›ฝใ‚„ๆœฌ้‚ฆใ‹ใ‚‰ๅŒๆง˜ใฎๅฎถ็ณปใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆใฏๅนณๅ‡48ๆญณ็™บ็—‡ใจ่‹ฅๅนดใง็™บ็—‡ใ—ใ€ๆฏ”่ผƒ็š„ๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใจไฝ“้‡ๆธ›ๅฐ‘ใซๅŠ ใˆใฆใ€ใ†ใค็—‡็Šถใ€ใ‚ขใƒ‘ใ‚ทใƒผใ€่„ฑๆŠ‘ๅˆถใ€ๅผ•ใใ“ใ‚‚ใ‚Šใจใ„ใฃใŸ็ฒพ็ฅž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆไธญๆžขๆ€งใฎไฝŽๆ›ๆฐ—ใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใซๅฏพใ—ใฆL-ใƒ‰ใƒ‘่ฃฝๅ‰คใชใฉใฎใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ๆฒป็™‚่–ฌใ‚„ๆŠ—ใ†ใค่–ฌใ€ไฝŽๆ›ๆฐ—ใซๅฏพใ—ใฆไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใชใฉๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€ๆ นๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200547NANDO:1200523
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/126-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Perry syndrome" - @en
rdfs:label - "ใƒšใƒชใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1181 + rdfs:label + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ12ใ˜ใ™ใจใซใ‚" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00879http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=480
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157290.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4702https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
+ skos:altLabel + "DYT12" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008201http://purl.obolibrary.org/obo/MONDO_0007496
skos:prefLabel - "ใƒšใƒชใƒผ็—‡ๅ€™็พค" + "DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200548 +
http://nanbyodata.jp/ontology/NANDO_1200524 (rdf:type owl:Class @@ -42973,72 +50897,84 @@

hasNotificationNumber127
- dcterms:description - "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใฏไธปใจใ—ใฆๅˆ่€ๆœŸใซ็™บ็—‡ใ—ใ€ๅคง่„ณใฎๅ‰้ ญ่‘‰ใ‚„ๅด้ ญ่‘‰ใ‚’ไธญๅฟƒใซ็ฅž็ตŒๅค‰ๆ€งใ‚’ๆฅใŸใ™ใŸใ‚ใ€ไบบๆ ผๅค‰ๅŒ–ใ‚„่กŒๅ‹•้šœๅฎณใ€ๅคฑ่ชž็—‡ใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใชใฉใŒ็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ฝก" - @jahasNotificationNumber120
dcterms:identifier1200548NANDO:1200524
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Frontotemporal lobar degeneration" + "Rapid-onset dystonia-parkinsonism" @en
rdfs:label - "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡" + "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ˜ใ™ใจใซใ‚ใƒปใฑใƒผใใ‚“ใใซใšใ‚€" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ " @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00078http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=480
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157233.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4840https://www.nanbyou.or.jp/entry/4898
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200523
+ skos:altLabel + "RDP" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017276http://purl.obolibrary.org/obo/MONDO_0007496
skos:prefLabel - "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡" + "ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ " @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200549 +
http://nanbyodata.jp/ontology/NANDO_1200525 (rdf:type owl:Class @@ -43046,65 +50982,89 @@

hasNotificationNumber127hasNotificationNumber120
dcterms:identifier1200549NANDO:1200525
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/127-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Behavioral variant frontotemporal dementia" + "Alternating hemiplegia of childhood" @en
rdfs:label - "๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡" + "ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157233.docxhttp://nanbyodata.jp/ontology/NANDO_2200883
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4840https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00998
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200548http://nanbyodata.jp/ontology/NANDO_1200523
+ skos:altLabel + "AHC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017160http://purl.obolibrary.org/obo/MONDO_0016241
skos:prefLabel - "๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡" + "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200550 +
http://nanbyodata.jp/ontology/NANDO_1200526 (rdf:type owl:Class @@ -43112,70 +51072,84 @@

hasNotificationNumber127hasNotificationNumber120
dcterms:identifier1200550NANDO:1200526
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/127-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Semantic dementia" + "cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss" @en
rdfs:label - "ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡" + "ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ—ใ‚“ใถใฏใ‚“ใ—ใ‚ƒใ—ใ‚‡ใ†ใ—ใคใŠใ†ใใใ—ใ—ใ‚“ใ‘ใ„ใ„ใ—ใ‚…ใใ‹ใ‚“ใ‹ใใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใกใ‚‡ใ†ใ‹ใใ—ใ‚‡ใ†ใŒใ„" + @ja-Hira
+ rdfs:label + "ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3679http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3861
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157233.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4840https://www.nanbyou.or.jp/entry/4898
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200548http://nanbyodata.jp/ontology/NANDO_1200523
+ skos:altLabel + "CAPOS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010857http://purl.obolibrary.org/obo/MONDO_0011038
skos:prefLabel - "ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡" + "ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ" @ja
- - + - - - - - - + + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ13ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200551 +
http://nanbyodata.jp/ontology/NANDO_1200527 (rdf:type owl:Class @@ -43183,91 +51157,91 @@

hasNotificationNumber128
- dcterms:description - "็œผ็ƒ้‹ๅ‹•ใ‚„้‹ๅ‹•ๅคฑ่ชฟใ€ๆ„่ญ˜้šœๅฎณใ‚’ไธ‰ไธปๅพดใจใ—ใ€่„ณๅนนใ‚’็—…ๅค‰ใฎ้ฆ–ๅบงใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏ๏ผ”้€ฑไปฅๅ†…ใซใƒ”ใƒผใ‚ฏใจใชใ‚Šใ€ใใฎๅพŒใฏๅพใ€…ใซๅ›žๅพฉใซๅ‘ใ‹ใ†ใฎใŒๅŽŸๅ‰‡ใงใ‚ใ‚‹ใŒใ€็ด„ๅŠๆ•ฐใฎ็—‡ไพ‹ใงๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ—ใ€ไธปใจใ—ใฆๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…จใฆใฎๅนด้ฝขๅฑคใง็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใŒใ€30ๆญณไปฃใ‚’ไธญๅฟƒใจใ—ใฆ่‹ฅๅนด่€…ใฎ็™บ็—‡ใŒๅคšใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200551NANDO:1200527
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/128-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Bickerstaff's Brainstem encephalitis" + "DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 13" @en
rdfs:label - "ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01842http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4634
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157275.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4462https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Bickerstaff Brainstem encephalitis" + "DYT13" @en
skos:altLabel - "Vickers staff brainstem encephalitis" + "Dystonia 13, torsion, autosomal dominant" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019208http://purl.obolibrary.org/obo/MONDO_0011886
skos:prefLabel - "ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž" + "DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ15ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200552 +
http://nanbyodata.jp/ontology/NANDO_1200528 (rdf:type owl:Class @@ -43275,93 +51249,91 @@

hasNotificationNumber129
- dcterms:description - "ๅฐๅ…ใซๅคšใใ€็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆฟ€ใซ็™บ็—‡ใ—ใ€ๅ…ธๅž‹ไพ‹ใงใฏไบŒ็›ธๆ€งใฎ็—™ๆ”ฃใจใใ‚Œใซ็ถšใๆ„่ญ˜้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ„่ญ˜้šœๅฎณใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใซใ€ๅคง่„ณ็šฎ่ณชใฎๆฉŸ่ƒฝไฝŽไธ‹ใจใฆใ‚“ใ‹ใ‚“ใŒใ—ใฐใ—ใฐๅ‡บ็พใ™ใ‚‹ใ€‚็ฝน็—…็Ž‡ใฏ๏ผ‘ๅนดใซ100๏ฝž200ไบบใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200552NANDO:1200528
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/129-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
+ rdfs:label + "DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
rdfs:label - "Acute Encephalopathy with Febrile Convulsive Status Epilepticus" + "Dystonia 15" @en
rdfs:label - "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157183.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4594
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4513https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
- skos:altLabel - "Acute encephalopathy with biphasic seizures and late reduced diffusion" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Epilepticus type acute encphalopathy" + "DYT15" @en
skos:altLabel - "Epilepticus type biphasic acute encphalopathy" + "Dystonia-15, myoclonic" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018198http://purl.obolibrary.org/obo/MONDO_0011844
skos:prefLabel - "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡" + "DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + "DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja + "Dystonia 16" + @en - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200553 +
http://nanbyodata.jp/ontology/NANDO_1200529 (rdf:type owl:Class @@ -43369,82 +51341,84 @@

hasNotificationNumber130
- dcterms:description - "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใฏใ€ๅ…จ่บซใฎ็„ก็—›ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ€้‹ๅ‹•้บป็—บใ‚’ไผดใ‚ใชใ„ใ€‚ๆธฉ็—›่ฆš้šœๅฎณใซ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใ‚’ใ€้บไผๆ€งๆ„Ÿ่ฆš่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจๅ‘ผใถใŒใ€ใ“ใฎใ†ใก๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใŒๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใซ็›ธๅฝ“ใ™ใ‚‹๏ผˆ๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใฏๆ˜Ž็ขบใชๅŒบๅˆฅใŒๅ›ฐ้›ฃใง่‡จๅบŠ็—‡็ŠถใŒใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใŸใ‚ใ€ไธก่€…ใ‚’ๅซใ‚ใ‚‹๏ผ‰ใ€‚๏ผ”ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใซใ€ๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ๅˆใฏๆถˆๅคฑใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€๏ผ•ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’็คบใ™ใŒ็™บๆฑ—ไฝŽไธ‹ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไผดใ‚ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€๏ผ”ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚็ฒพ็ฅž็™บ้”้…ๆปžใŒใ”ใ่ปฝๅบฆใฎๆ‚ฃ่€…ใ€๏ผ•ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚่ปฝๅบฆใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’็คบใ™ๆ‚ฃ่€…ใ‚‚ใŠใ‚Šใ€่ฟ‘ๅนดใ“ใ‚Œใ‚‰ใฏใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200553NANDO:1200529
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/130-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Congenital Insensitivity to Pain with Anhidrosis" - @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2733 + rdfs:label + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ16ใ˜ใ™ใจใซใ‚" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01836http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7057
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157231.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4360https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
+ skos:altLabel + "DYT16" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009746http://purl.obolibrary.org/obo/MONDO_0012789
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" + "DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + "DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja + "Dystonia 17" + @en - - + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200554 +
http://nanbyodata.jp/ontology/NANDO_1200530 (rdf:type owl:Class @@ -43452,82 +51426,91 @@

hasNotificationNumber131
- dcterms:description - "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ๏ผˆGFAP๏ผ‰ใ€ฮฑ B-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็ŠถๅŠใณMRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹๏ผˆ๏ผ‘ๅž‹๏ผ‰ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹๏ผˆ๏ผ’ๅž‹๏ผ‰ใ€ไธญ้–“ๅž‹๏ผˆ๏ผ“ๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใซใŠใ„ใฆGFAPใฎใƒŸใ‚นใ‚ปใƒณใ‚นๅค‰็•ฐใ‚ใ‚‹ใ„ใฏๆ•ฐๅกฉๅŸบๆฌ ๅคฑใ‚„ๆŒฟๅ…ฅใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใซใคใ„ใฆใฏ็ ”็ฉถใŒ้€ฒใฟใคใคใ‚ใ‚‹ใŒๅๅˆ†่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๆฒป็™‚ใฏๅฏพ็—‡็™‚ๆณ•ใซใจใฉใพใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200554NANDO:1200530
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Alexander Disease" - @en
rdfs:label - "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1723 + rdfs:label + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ17ใ˜ใ™ใจใซใ‚" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00065http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7143
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4345https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
+ skos:altLabel + "DYT17" + @en
+ skos:altLabel + "Dystonia-17, primary torsion, autosomal recessive" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008752http://purl.obolibrary.org/obo/MONDO_0012895
skos:prefLabel - "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + "DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - + + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ18ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + + + + + - + + "DYT18" + @en + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200555 +
http://nanbyodata.jp/ontology/NANDO_1200531 (rdf:type owl:Class @@ -43535,79 +51518,112 @@

hasNotificationNumber131hasNotificationNumber120
dcterms:identifier1200555NANDO:1200531
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Alexander disease type I" + "DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 18" @en
rdfs:label - "ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7093
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4345https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200554http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "1ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
skos:altLabel - "cerebral Alexander disease" + "GLUT1 deficiency syndrome 2, childhood onset" + @en
+ skos:altLabel + "PED" + @en
+ skos:altLabel + "Paroxysmal execise-induced dyskinesia" @en
+ skos:altLabel + "็™บไฝœๆ€งๅŠดไฝœ่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018209http://purl.obolibrary.org/obo/MONDO_0012805
skos:prefLabel - "ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + "DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - + + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ19ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + + + + + - + + "DYT19" + @en + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200556 +
http://nanbyodata.jp/ontology/NANDO_1200532 (rdf:type owl:Class @@ -43615,79 +51631,105 @@

hasNotificationNumber131hasNotificationNumber120
dcterms:identifier1200556NANDO:1200532
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Alexander disease type II" + "DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 19" @en
rdfs:label - "ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6888
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4345https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200554http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "2ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
skos:altLabel - "bulbospinal Alexander disease" + "EKD2" + @en
+ skos:altLabel + "Episodic kinesigenic dyskinesia 2" @en
+ skos:altLabel + "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข2" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018210http://purl.obolibrary.org/obo/MONDO_0012603
skos:prefLabel - "ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + "DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - + + - + - + + + + + + "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ20ใ˜ใ™ใจใซใ‚" + @ja-Hira - + - + + + + + - + + "DYT20" + @en + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200557 +
http://nanbyodata.jp/ontology/NANDO_1200533 (rdf:type owl:Class @@ -43695,67 +51737,98 @@

hasNotificationNumber131hasNotificationNumber120
dcterms:identifier1200557NANDO:1200533
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Alexander disease type III" + "DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" + @ja
+ rdfs:label + "Dystonia 20" @en
rdfs:label - "ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6915
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4345https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200554http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "3ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
+ skos:altLabel + "PNKD2" + @en
+ skos:altLabel + "Paroxysmal nonkinesigenic dyskinesia 2" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012629
skos:prefLabel - "ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + "DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข" @ja
- - + - - - - - - + + - + - + + "NBIA1" + @ja + "Neurodegeneration with brain iron accumulation type 1" + @en - - + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200558 +
http://nanbyodata.jp/ontology/NANDO_1200534 (rdf:type owl:Class @@ -43763,103 +51836,112 @@

hasNotificationNumber132
- dcterms:description - "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ๏ผˆใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค๏ผ‰ใฏใ€่ƒŽๅ…ใ‹ใ‚‰ๆ–ฐ็”Ÿๅ…ๆœŸใฎ้ž้€ฒ่กŒๆ€ง่„ณ้šœๅฎณใซใ‚ˆใ‚Šๅ’ฝ้ ญๅ–‰้ ญ้ƒจ๏ผˆ็ƒ็ญ‹๏ผ‰ใฎ้‹ๅ‹•้šœๅฎณใ‚’ๆฅใ—ใ€ๅšฅไธ‹ใ€ๆ‘‚้ฃŸใ€ไผš่ฉฑใ€ๅ”พๆถฒใ‚ณใƒณใƒˆใƒผใƒซใฎๆฉŸ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็—‡็Šถใฏๆˆ้•ทใซไผดใฃใฆๅค‰ๅŒ–ใ™ใ‚‹ใŒใ€ๆถˆๅคฑใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚็ตŒ้Žใฏ่„ณๆ€ง้บป็—บใซไผผใ‚‹ใŒใ€ไธŠไธ‹่‚ขใฎ้‹ๅ‹•้šœๅฎณใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅ‚ใ‚ทใƒซใƒ“ใ‚ฆใ‚น่ฃ‚็—‡ๅ€™็พคใจใฏ็•ฐใชใ‚Šใ€็”ปๅƒไธŠ็—…ๅค‰ใ‚’ไผดใ‚ใชใ„ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200558NANDO:1200534
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/132-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Congenital Suprabulbar Paresis" - @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1482 + rdfs:label + "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ1" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01837http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2308
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157225.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4335https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "Congenital supranuclear bulbar palsy" + "Hallervorden-Spatz syndrome" @en
skos:altLabel - "Worcester drought syndrome" + "NBIA 1" @en
skos:altLabel - "Worster-Drought syndrome" + "PKAN" + @en
+ skos:altLabel + "Pantothenate kinase-associated neurodegeneration" @en
+ skos:altLabel + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008503http://purl.obolibrary.org/obo/MONDO_0009319
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ" + "NBIA1" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200559 +
http://nanbyodata.jp/ontology/NANDO_1200535 (rdf:type owl:Class @@ -43867,89 +51949,93 @@

hasNotificationNumber133
- dcterms:description - "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€ๅฐ‘ใชใใจใ‚‚็”Ÿ็”ฃๅ…๏ผ˜ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ๅ…จๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏ1,000ไบบๅ‰ๅพŒใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200559NANDO:1200535
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/133-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Mobius Syndrome" + "Classic pantothenate kinase-associated neurodegeneration" @en
rdfs:label - "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" + "ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใธใ‚“ใ„ใซใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ“ใฆใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=997https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01840https://www.nanbyou.or.jp/entry/4899
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157306.docx + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200534
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5326 + skos:altLabel + "Classic Hallervorden-Spatz syndrome" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001 + skos:altLabel + "Classic PKAN" + @en
skos:altLabel - "Moebius syndrome" + "NBIA1, classic form" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008006http://purl.obolibrary.org/obo/MONDO_0016304
skos:prefLabel - "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200560 +
http://nanbyodata.jp/ontology/NANDO_1200536 (rdf:type owl:Class @@ -43957,67 +52043,93 @@

hasNotificationNumber134
- dcterms:description - "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข๏ผˆDe Morsier๏ผ‰็—‡ๅ€™็พคใฏใ€้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ๏ผ“็—‡็Šถใ‚’ๆฅใ™ๅ…ธๅž‹ไพ‹ใฏ30๏ผ…ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200560NANDO:1200536
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/134-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Septo-optic Dysplasia / De Morsier syndrome" + "Atypical pantothenate kinase-associated neurodegeneration" @en
rdfs:label - "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" + "ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใธใ‚“ใ„ใซใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰" + @ja-Hira
+ rdfs:label + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157250.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4402https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011http://nanbyodata.jp/ontology/NANDO_1200534
+ skos:altLabel + "Atypical Hallervorden-Spatz syndrome" + @en
+ skos:altLabel + "Atypical PKAN" + @en
+ skos:altLabel + "NBIA1, atypical form" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016305
skos:prefLabel - "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" @ja
- - + - - + + - + - + + + + + + + + + - + - + - + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200561 +
http://nanbyodata.jp/ontology/NANDO_1200537 (rdf:type owl:Class @@ -44025,75 +52137,110 @@

hasNotificationNumber134hasNotificationNumber120
dcterms:identifier1200561NANDO:1200537
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/134-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡" + "NBIA2a" @ja
+ rdfs:label + "Neurodegeneration with brain iron accumulation type 2A" + @en
+ rdfs:label + "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ2ใˆใƒผ" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1408http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2726
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00544http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2727
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157250.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4402https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200560http://nanbyodata.jp/ontology/NANDO_1200511
skos:altLabel - "De Morsier syndrome" + "Classic INAD" @en
skos:altLabel - "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" + "Classic infantile neuroaxonal dystrophy" + @en
+ skos:altLabel + "NBIA2A" + @en
+ skos:altLabel + "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅคๅ…ธๅž‹๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008428http://purl.obolibrary.org/obo/MONDO_0024457
+ skos:prefLabel + "NBIA2a" + @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ2ใณใƒผ" + @ja-Hira - - - - - + - + - + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200562 +
http://nanbyodata.jp/ontology/NANDO_1200538 (rdf:type owl:Class @@ -44101,82 +52248,105 @@

hasNotificationNumber135
- dcterms:description - "1965ๅนดใซAicardiใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่„ณๆขๆฌ ๆใ€็‚น้ ญใฆใ‚“ใ‹ใ‚“ใ€็ถฒ่„ˆ็ตก่†œ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ๆง˜ใ€…ใช็จฎ้กžใฎ่„ณๅฅ‡ๅฝขใ€้›ฃ็Ÿฅๆ€ง็—™ๆ”ฃใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ๅ‘ˆใ—ใ€ๆœฌ็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ฅž็ตŒ็™บ็”Ÿ็•ฐๅธธใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŽŸๅ› ใ‚‚ไธๆ˜Žใงใ‚ใ‚‹ใŸใ‚ๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200562NANDO:1200538
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/135-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Aicardi syndrome" + "NBIA2b" + @ja
+ rdfs:label + "Neurodegeneration with brain iron accumulation type 2B" @en
rdfs:label - "ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3384
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01776http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6726
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157111.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4393https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
+ skos:altLabel + "Atypical neuroaxonal dystrophy" + @en
+ skos:altLabel + "NBIA2B" + @en
+ skos:altLabel + "atypical NAD" + @en
+ skos:altLabel + "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010568http://purl.obolibrary.org/obo/MONDO_0012444
skos:prefLabel - "ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค" + "NBIA2b" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ3" + @ja-Hira - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200563 +
http://nanbyodata.jp/ontology/NANDO_1200539 (rdf:type owl:Class @@ -44184,77 +52354,98 @@

hasNotificationNumber136
- dcterms:description - "็‰‡ๅดๅทจ่„ณ็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซไธ€ๅดใฎๅคง่„ณๅŠ็ƒใŒๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚ŠๅทจๅคงๅŒ–ใ—ใŸ็Šถๆ…‹ใงใ€้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใ€ไธๅ…จ็‰‡้บป็—บใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใฎไธ‰ไธปๅพดใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใฎใชใ„ๅญค็™บๆ€ง ๏ผˆisolated form๏ผ‰ ใจ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใ‚’ๅŸบ็คŽ็–พๆ‚ฃใจใ™ใ‚‹็—‡ๅ€™ๆ€ง ๏ผˆsyndromic form๏ผ‰ ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200563NANDO:1200539
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/136-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Hemimegalencephaly" + "NBIA๏ผ“" + @ja
+ rdfs:label + "Neurodegeneration with brain iron accumulation type 3" @en
rdfs:label - "็‰‡ๅดๅทจ่„ณ็—‡" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01833http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4426
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157292.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4783https://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
+ skos:altLabel + "NBIA 3" + @en
+ skos:altLabel + "Neuroferritinopathy" + @en
+ skos:altLabel + "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020492http://purl.obolibrary.org/obo/MONDO_0011638
skos:prefLabel - "็‰‡ๅดๅทจ่„ณ็—‡" + "NBIA๏ผ“" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ4" + @ja-Hira - + - + + + + + + + + + - + - + - - -
http://nanbyodata.jp/ontology/nando#1200564 +
http://nanbyodata.jp/ontology/NANDO_1200540 (rdf:type owl:Class @@ -44262,128 +52453,129 @@

hasNotificationNumber137
- dcterms:description - "ๅคง่„ณ็šฎ่ณชใซใŠใ‘ใ‚‹ๅฑ€ๆ‰€็š„ใช็™บ็”Ÿ็•ฐๅธธ๏ผˆ็ฅž็ตŒ็ดฐ่ƒžใฎ็™บ็”Ÿใ€ๅข—ๆฎ–ๅŠใณ้Š่ตฐใฎ้šœๅฎณ๏ผ‰ใซ้–ข้€ฃใ—ใŸ็—…ๅทฃใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธปใซไนณๅนผๅ…๏ฝžๅญฆ็ซฅๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€ไธญๅญฆ็”Ÿไปฅ้™ใ‚ใ‚‹ใ„ใฏๆˆไบบใงใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚MRIใซใ‚ˆใ‚Š้™ๅฑ€ๆ€งใฎ็šฎ่ณชใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็•ฐๅธธๆ‰€่ฆ‹ใงๆคœๅ‡บใ•ใ‚Œใ‚‹ไธ€ๆ–นใ€MRI็•ฐๅธธใ‚’ๆฌ ใ็—…็†่จบๆ–ญใงๆ˜Žใ‚‰ใ‹ใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณช็ฅž็ตŒ็ดฐ่ƒžใฎ้…ๅˆ—ใŒๆง˜ใ€…ใช็จ‹ๅบฆใซไนฑใ‚Œใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใฎ็‰นๅพดใ‹ใ‚‰ใ‚ฟใ‚คใƒ—ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณชใฎใฉใ“ใซใงใ‚‚็”Ÿใ˜ใ†ใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier1200564NANDO:1200540
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "Focal cortical dysplasia" + "NBIA๏ผ”" + @ja
+ rdfs:label + "Neurodegeneration with brain iron accumulation type 4" @en
rdfs:label - "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4233
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7960
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200511
- skos:prefLabel + skos:altLabel - "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ" - @ja
- - - - - - + "Aceruloplasminemia" + @en - - + + - - + + - + + "Mitochondrial membrane protein-associated neurodegeneration" + @en - + - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200565 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber137
- dcterms:identifier1200565 + skos:altLabel + "Hereditary ceruloplasmin deficiency" + @en
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf + skos:altLabel + "MPAN" + @en
- rdfs:label + skos:altLabel - "FCD ใ‚ฟใ‚คใƒ—1a" - @ja
- rdfs:label + skos:altLabel - "Focal cortical dysplasia type 1a" + "NBIA4" @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx + skos:altLabel + "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡" + @ja
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011426
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013674
skos:prefLabel - "FCD ใ‚ฟใ‚คใƒ—1a" + "NBIA๏ผ”" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + - - -
http://nanbyodata.jp/ontology/nando#1200566 +
http://nanbyodata.jp/ontology/NANDO_1200541 (rdf:type owl:Class @@ -44391,121 +52583,117 @@

hasNotificationNumber137hasNotificationNumber120
dcterms:identifier1200566NANDO:1200541
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/120-201704-kojin.pdf
rdfs:label - "FCD ใ‚ฟใ‚คใƒ—1b" + "FAHN" @ja
rdfs:label - "Focal cortical dysplasia type 1b" + "Fatty acid hydroxylase-associated neurodegeneration" @en
+ rdfs:label + "ใˆใตใˆใƒผใˆใ„ใกใˆใฌ" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7115
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157130.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4899
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564http://nanbyodata.jp/ontology/NANDO_1200511
- skos:prefLabel + skos:altLabel - "FCD ใ‚ฟใ‚คใƒ—1b" - @ja
- - - - - - - - - - + "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia" + @en - - + + - + + "SPG35" + @en - + - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200567 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber137
- dcterms:identifier1200567
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf + skos:altLabel + "FAHN" + @en
- rdfs:label + skos:altLabel - "FCD ใ‚ฟใ‚คใƒ—1c" - @ja
- rdfs:label + skos:altLabel - "Focal cortical dysplasia type 1c" + "Spastic paraplegia 35" @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx + skos:altLabel + "่„‚่‚ช้…ธๆฐด้…ธๅŒ–้…ต็ด ๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡" + @ja
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012866
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017999
skos:prefLabel - "FCD ใ‚ฟใ‚คใƒ—1c" + "FAHN" @ja
- - + - - + + + + + + - + - + + "Neuroferritinopathy" + @en + "ใ—ใ‚“ใ‘ใ„ใตใ‡ใ‚Šใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200568 +
http://nanbyodata.jp/ontology/NANDO_1200542 (rdf:type owl:Class @@ -44513,70 +52701,89 @@

hasNotificationNumber137hasNotificationNumber121
+ dcterms:description + "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ใฏใ€ใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–้บไผๅญๅค‰็•ฐใซ้–ข้€ฃใ™ใ‚‹ๅคšๅฝฉใช็ฅž็ตŒ็—‡ๅ€™ใ‚’ๆ•ฐๅๅนดใซใ‚ใŸใ‚Š่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใฏๅŸบๅบ•ๆ ธ็—…ๅค‰ใ‚’ๅๆ˜ ใ—ใฆT2ๅปถ้•ทใจ็Ÿญ็ธฎใŒๆททๅœจใ™ใ‚‹ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใจใ•ใ‚Œใ€็—…็†ๅญฆ็š„ใซใฏๅค‰็•ฐใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใ€ๆญฃๅธธใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใŠใ‚ˆใณ้‡้Ž–ใŒใ€็ฅž็ตŒ็ดฐ่ƒžไฝ“ๅŠใณๆ ธๅ†…ใ€ใ‚ฐใƒชใ‚ข็ดฐ่ƒžๆ ธๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200568NANDO:1200542
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/121-201704-kojin.pdf
rdfs:label - "FCD ใ‚ฟใ‚คใƒ—2a" - @ja
rdfs:label - "Focal cortical dysplasia type 2a" - @en
+ rdfs:label + "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4570http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4426
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01779
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157213.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4807
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011818http://purl.obolibrary.org/obo/MONDO_0011638
skos:prefLabel - "FCD ใ‚ฟใ‚คใƒ—2a" + "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡" @ja
- - + - - + + + + + + - + - + + "Superficial siderosis" + @en + "ใฎใ†ใฒใ‚‡ใ†ใธใ‚‚ใ˜ใงใ‚Šใ‚“ใกใ‚“ใกใ‚ƒใใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200569 +
http://nanbyodata.jp/ontology/NANDO_1200543 (rdf:type owl:Class @@ -44584,70 +52791,91 @@

hasNotificationNumber137hasNotificationNumber122
+ dcterms:description + "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ใฏใ€้‰„๏ผˆใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณ๏ผ‰ใŒ่„ณ่กจใ€่„ณๅฎŸ่ณชใซๆฒˆ็€ใ—ใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่„ณใ€่„ณๅนนใชใฉๅพŒ้ ญ่“‹็ชฉใ‚„่„Š้ซ„ใ‚’ไธญๅฟƒใซไธญๆžข็ฅž็ตŒ็ณปใซใณใพใ‚“ๆ€งใƒปๅฏพ็งฐๆ€งใซ็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆๅคๅ…ธๅž‹๏ผ‰ใจใ€้™ๅฑ€ๆ€ง๏ผˆไพ‹๏ผšไธ€ๅดใฎๅ‰้ ญ่‘‰ใชใฉ๏ผ‰ใซ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใฎ๏ผ’็จฎ้กžใŒใ‚ใ‚Šใ€้€šๅธธใฏๅ‰่€…ใ‚’ๆŒ‡ใ™ใ€‚ๅคๅ…ธๅž‹ใฎ่‡จๅบŠ็—‡ๅ€™ใจใ—ใฆๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ‚’้ซ˜ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ไธ€้ƒจใซใฏใ€่„ณๅ‹•่„ˆ็˜คใ€่„ณๅ‹•้™่„ˆ็˜ปใ€ใ‚ขใƒŸใƒญใ‚คใƒ‰่ก€็ฎก็—‡ใ€่…ซ็˜ใ€ๅค–ๅ‚ทใ€่„ณ่„Š้ซ„ๆถฒๆธ›ๅฐ‘็—‡ใ€่„ŠๆŸฑ็ฎกๅ†…ใฎๅšข่ƒžๆ€ง็–พๆ‚ฃใƒป็กฌ่†œ็•ฐๅธธ็—‡ใชใฉใฎๅˆไฝตใ‚’่ชใ‚ใ€ๅŽŸๅ› ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ˜Žใ‚‰ใ‹ใช้–ข้€ฃ็–พๆ‚ฃใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ๅ ดๅˆใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200569NANDO:1200543
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/122-201704-kojin.pdf
rdfs:label - "FCD ใ‚ฟใ‚คใƒ—2b" - @ja
rdfs:label - "Focal cortical dysplasia type 2b" - @en
+ rdfs:label + "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4570https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01846
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157264.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456https://www.nanbyou.or.jp/entry/4810
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Brain table hemosiderosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011818http://purl.obolibrary.org/obo/MONDO_0016594
skos:prefLabel - "FCD ใ‚ฟใ‚คใƒ—2b" + "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡" @ja
- - + - - + + + + + + - + - - - - - + - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200570 +
http://nanbyodata.jp/ontology/NANDO_1200544 (rdf:type owl:Class @@ -44655,243 +52883,124 @@

hasNotificationNumber137hasNotificationNumber123
+ dcterms:description + "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆCARASIL๏ผ‰ใฏใ€้’ๅนดๆœŸใ‹ใ‚‰่‹ฅๅนดๆˆไบบๆœŸใซใ€้€ฒ่กŒๆ€งใฎๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใ€ๅคš็™บๆ€งใƒฉใ‚ฏใƒŠๆข—ๅกžใ€็ฆฟ้ ญใ€ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœฌ้‚ฆใง๏ผ—ๅฎถ็ณป๏ผ˜ไพ‹ใ€ๆœฌ้‚ฆไปฅๅค–ใง๏ผ•ไพ‹๏ผ•ๅฎถ็ณปใฎ้บไผๅญ่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200570NANDO:1200544
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
- rdfs:label - "FCD ใ‚ฟใ‚คใƒ—3a" - @jahttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/123-201704-kojin.pdf
rdfs:label - "Focal cortical dysplasia type 3a" + "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564
- skos:prefLabel - "FCD ใ‚ฟใ‚คใƒ—3a" - @ja
- - - - - - - - - - - - - - - - + "ใจใใจใ†ใจใธใ‚“ใ‘ใ„ใ›ใ„ใ›ใใคใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira + "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡" + @ja - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200571 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber137
- dcterms:identifier1200571
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "FCD ใ‚ฟใ‚คใƒ—3b" - @ja
rdfs:label - "Focal cortical dysplasia type 3b" - @en
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3650
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564
- skos:prefLabel - "FCD ใ‚ฟใ‚คใƒ—3b" - @ja
- - - - - - - - - - - - - - - - - - - - - - + - + - + - + - + - - -
http://nanbyodata.jp/ontology/nando#1200572 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber137
- dcterms:identifier1200572
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
- rdfs:label - "FCD ใ‚ฟใ‚คใƒ—3c" - @ja
- rdfs:label - "Focal cortical dysplasia type 3c" - @enhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01757
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157252.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456https://www.nanbyou.or.jp/entry/4549
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564http://nanbyodata.jp/ontology/NANDO_1100001
- skos:prefLabel + skos:altLabel - "FCD ใ‚ฟใ‚คใƒ—3c" - @ja
- - - - - - - - - - + "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis" + @en - - + + - + - + - - - - - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200573 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber137
- dcterms:identifier1200573
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf + skos:altLabel + "CARASIL" + @en
- rdfs:label + skos:altLabel - "FCD ใ‚ฟใ‚คใƒ—3d" + "CARASIL" @ja
- rdfs:label + skos:altLabel - "Focal cortical dysplasia type 3d" + "Cerebral autosomal recessive arteriopathy" @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4456 + skos:altLabel + "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200564 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010829
skos:prefLabel - "FCD ใ‚ฟใ‚คใƒ—3d" + "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
- - + - - + + - + - + + "ใฒใ—ใคใ‹ใ“ใ†ใใใจใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฎใ†ใฉใ†ใฟใ‚ƒใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200574 +
http://nanbyodata.jp/ontology/NANDO_1200545 (rdf:type owl:Class @@ -44899,91 +53008,107 @@

hasNotificationNumber138hasNotificationNumber124
dcterms:description - "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•๏ผˆๅพŒ๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผˆ็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใจ่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผ‰ใ€ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆใ€่ฃ‚่„ณ็—‡ใ€ๅญ”่„ณ็—‡ใ‚’ๅซใ‚€ใ€‚" + "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡๏ผˆCerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy๏ผšCADASIL๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ—ใ€่‹ฅๅนดๆœŸใ‹ใ‚‰ๅ‰ๅ…†ใ‚’ไผดใ†็‰‡้ ญ็—›ใŒๅ…ˆ่กŒใ€CTใƒปMRIใงๅŒๅฎšใ•ใ‚Œใ‚‹ๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใŒๅพใ€…ใซ้€ฒ่กŒใ€ไธญๅนดๆœŸใ‹ใ‚‰่„ณๅ’ไธญๅฑ้™บๅ› ๅญใŒใชใใฆใ‚‚็šฎ่ณชไธ‹็™ฝ่ณชใซใƒฉใ‚ฏใƒŠๆข—ๅกžใ‚’็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ—ใ€ใ†ใค็—‡็Šถใ€่„ณ่ก€็ฎกๆ€ง่ช็Ÿฅ็—‡ใซ่‡ณใ‚‹ใ€‚NOTCH3้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ€็—…็†ๅญฆ็š„ใซ่„ณๅฐ่ก€็ฎกใฎๅนณๆป‘็ญ‹ใฎๅค‰ๆ€งใจใ€้›ป้ก•ใงใ‚ชใ‚นใƒŸใ‚ฆใƒ ใซๆฟƒๆŸ“ใ™ใ‚‹้ก†็ฒ’๏ผˆGOM๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ—ใ€้บไผๅญ่จบๆ–ญๅˆใฏ็—…็†่จบๆ–ญใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200574NANDO:1200545
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/138-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/124-201704-kojin.pdf
rdfs:label - "Neuronal Migration Defects" + "Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy" @en
rdfs:label - "็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01835 + rdfs:label + "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157211.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157272.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4396https://www.nanbyou.or.jp/entry/4444
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Lissencephaly" + "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy" @en
skos:altLabel - "Nerve cell migration disorders" + "CADASIL" + @en
+ skos:altLabel + "CADASIL" + @ja
+ skos:altLabel + "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018838http://purl.obolibrary.org/obo/MONDO_0007432
skos:prefLabel - "็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡" + "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡" @ja
- - + - - + + - + + + + + + + + + - + - + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200575 +
http://nanbyodata.jp/ontology/NANDO_1200546 (rdf:type owl:Class @@ -44991,74 +53116,89 @@

hasNotificationNumber139hasNotificationNumber125
dcterms:description - "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆhereditary diffuse leukoencephalopathy with spheroid๏ผšHDLS๏ผ‰ใฏใ€ๅคง่„ณ็™ฝ่ณชใ‚’็—…ๅค‰ใฎไธปๅบงใจใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ๅญค็™บไพ‹ใŒๆ•ฐๅคšใๅญ˜ๅœจใ™ใ‚‹ใ€‚1984ๅนดใซใ‚นใ‚ฆใ‚งใƒผใƒ‡ใƒณๅฎถ็ณปใงๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ไธ–็•Œๅ„ๅœฐใซ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚HDLSใฏใ€่„ณ็”Ÿๆคœๅˆใฏๅ‰–ๆคœใซใ‚ˆใ‚‹็ฅž็ตŒ็—…็†ๅญฆ็š„ๆคœๆŸปใซใ‚ˆใ‚Šๅพ“ๆฅ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใŒใ€2012ๅนดใซHDLSใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆไปฅ้™ใฏใ€้บไผๅญๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใŒๅฏ่ƒฝใซใชใฃใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200575NANDO:1200546
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/125-201704-kojin.pdf
rdfs:label - "Congenital Cerebral Hypomyelination" + "Hereditary diffuse leukoencephalopathy with spheroid" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + "ใ—ใ‚“ใ‘ใ„ใ˜ใใ•ใใ™ใตใ‡ใ‚ใ„ใฉใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใ„ใงใ‚“ใ›ใ„ใณใพใ‚“ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00679http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2080
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01807
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157212.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4498
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
- skos:altLabel - "Congenital cerebral white matter aplasia" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009096
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200576 +
http://nanbyodata.jp/ontology/NANDO_1200547 (rdf:type owl:Class @@ -45066,70 +53206,89 @@

hasNotificationNumber139hasNotificationNumber126
+ dcterms:description + "ใƒšใƒชใƒผ๏ผˆPerry๏ผ‰็—‡ๅ€™็พคใฏ้žๅธธใซใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ1975ๅนดใซPerryใ‚‰ใซใ‚ˆใ‚Šๅฎถๆ—ๆ€งใฎใ†ใค็—‡็ŠถๅŠใณใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงๆฌง็ฑณ่ซธๅ›ฝใ‚„ๆœฌ้‚ฆใ‹ใ‚‰ๅŒๆง˜ใฎๅฎถ็ณปใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆใฏๅนณๅ‡48ๆญณ็™บ็—‡ใจ่‹ฅๅนดใง็™บ็—‡ใ—ใ€ๆฏ”่ผƒ็š„ๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใจไฝ“้‡ๆธ›ๅฐ‘ใซๅŠ ใˆใฆใ€ใ†ใค็—‡็Šถใ€ใ‚ขใƒ‘ใ‚ทใƒผใ€่„ฑๆŠ‘ๅˆถใ€ๅผ•ใใ“ใ‚‚ใ‚Šใจใ„ใฃใŸ็ฒพ็ฅž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆไธญๆžขๆ€งใฎไฝŽๆ›ๆฐ—ใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใซๅฏพใ—ใฆL-ใƒ‰ใƒ‘่ฃฝๅ‰คใชใฉใฎใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ๆฒป็™‚่–ฌใ‚„ๆŠ—ใ†ใค่–ฌใ€ไฝŽๆ›ๆฐ—ใซๅฏพใ—ใฆไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใชใฉๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€ๆ นๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚" + @ja
dcterms:identifier1200576NANDO:1200547
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/126-201704-kojin.pdf
rdfs:label - "Pelizaeus-Merzbacher disease" + "Perry syndrome" @en
rdfs:label - "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…" + "ใบใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒšใƒชใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3546http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1181
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00879
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157290.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4702
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010714http://purl.obolibrary.org/obo/MONDO_0008201
skos:prefLabel - "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…" + "ใƒšใƒชใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - - + + + "ใœใ‚“ใจใ†ใใใจใ†ใ‚ˆใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200577 +
http://nanbyodata.jp/ontology/NANDO_1200548 (rdf:type owl:Class @@ -45137,65 +53296,79 @@

hasNotificationNumber139hasNotificationNumber127
+ dcterms:description + "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใฏไธปใจใ—ใฆๅˆ่€ๆœŸใซ็™บ็—‡ใ—ใ€ๅคง่„ณใฎๅ‰้ ญ่‘‰ใ‚„ๅด้ ญ่‘‰ใ‚’ไธญๅฟƒใซ็ฅž็ตŒๅค‰ๆ€งใ‚’ๆฅใŸใ™ใŸใ‚ใ€ไบบๆ ผๅค‰ๅŒ–ใ‚„่กŒๅ‹•้šœๅฎณใ€ๅคฑ่ชž็—‡ใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใชใฉใŒ็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ฝก" + @ja
dcterms:identifier1200577NANDO:1200548
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-02-201704-kojin.pdf + rdfs:label + "Frontotemporal lobar degeneration" + @en
rdfs:label - "Pelizaeus-Merzbacher like disease" - @en
rdfs:label - "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘" + "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00078
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157233.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4840
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017226http://purl.obolibrary.org/obo/MONDO_0017276
skos:prefLabel - "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘" + "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200578 +
http://nanbyodata.jp/ontology/NANDO_1200549 (rdf:type owl:Class @@ -45203,60 +53376,72 @@

hasNotificationNumber139hasNotificationNumber127
dcterms:identifier1200578NANDO:1200549
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/127-01-201704-kojin.pdf
rdfs:label - "Hypomyelination with atrophy of the basal ganglia and cerebellum" + "(ใ“ใ†ใฉใ†ใ„ใ˜ใ‚‡ใ†ใŒใŸ)ใœใ‚“ใจใ†ใใใจใ†ใŒใŸใซใ‚“ใกใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "Behavioral variant frontotemporal dementia" @en
rdfs:label - "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" + "๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157233.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.nanbyou.or.jp/entry/4840
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1200548
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017160
skos:prefLabel - "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" + "๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200579 +
http://nanbyodata.jp/ontology/NANDO_1200550 (rdf:type owl:Class @@ -45264,70 +53449,77 @@

hasNotificationNumber139hasNotificationNumber127
dcterms:identifier1200579NANDO:1200550
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/127-02-201704-kojin.pdf
rdfs:label - "18q-syndrome" + "Semantic dementia" @en
rdfs:label - "18qๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใ„ใฟใ›ใ„ใซใ‚“ใกใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3965http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3679
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157233.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.nanbyou.or.jp/entry/4840
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1200548
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011147http://purl.obolibrary.org/obo/MONDO_0010857
skos:prefLabel - "18qๆฌ ๅคฑ็—‡ๅ€™็พค" + "ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200580 +
http://nanbyodata.jp/ontology/NANDO_1200551 (rdf:type owl:Class @@ -45335,70 +53527,98 @@

hasNotificationNumber139hasNotificationNumber128
+ dcterms:description + "็œผ็ƒ้‹ๅ‹•ใ‚„้‹ๅ‹•ๅคฑ่ชฟใ€ๆ„่ญ˜้šœๅฎณใ‚’ไธ‰ไธปๅพดใจใ—ใ€่„ณๅนนใ‚’็—…ๅค‰ใฎ้ฆ–ๅบงใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏ๏ผ”้€ฑไปฅๅ†…ใซใƒ”ใƒผใ‚ฏใจใชใ‚Šใ€ใใฎๅพŒใฏๅพใ€…ใซๅ›žๅพฉใซๅ‘ใ‹ใ†ใฎใŒๅŽŸๅ‰‡ใงใ‚ใ‚‹ใŒใ€็ด„ๅŠๆ•ฐใฎ็—‡ไพ‹ใงๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ—ใ€ไธปใจใ—ใฆๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…จใฆใฎๅนด้ฝขๅฑคใง็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใŒใ€30ๆญณไปฃใ‚’ไธญๅฟƒใจใ—ใฆ่‹ฅๅนด่€…ใฎ็™บ็—‡ใŒๅคšใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200580NANDO:1200551
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/128-201704-kojin.pdf
rdfs:label - "Allan-Herndon-Dudley syndrome" + "Bickerstaff's Brainstem encephalitis" @en
rdfs:label - "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค" + "ใณใฃใ‹ใƒผใ™ใŸใฃใตใฎใ†ใ‹ใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6494https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01842
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157275.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.nanbyou.or.jp/entry/4462
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Bickerstaff Brainstem encephalitis" + @en
+ skos:altLabel + "Vickers staff brainstem encephalitis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010354http://purl.obolibrary.org/obo/MONDO_0019208
skos:prefLabel - "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค" + "ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž" @ja
- - + - - + + + + + + - + - + + "acute encephalopathy with biphasic seizures and late reduced diffusion" + @en + "ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸ๏ผˆใซใใ†ใ›ใ„๏ผ‰ใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200581 +
http://nanbyodata.jp/ontology/NANDO_1200552 (rdf:type owl:Class @@ -45406,70 +53626,105 @@

hasNotificationNumber139hasNotificationNumber129
+ dcterms:description + "ๅฐๅ…ใซๅคšใใ€็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆฟ€ใซ็™บ็—‡ใ—ใ€ๅ…ธๅž‹ไพ‹ใงใฏไบŒ็›ธๆ€งใฎ็—™ๆ”ฃใจใใ‚Œใซ็ถšใๆ„่ญ˜้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ„่ญ˜้šœๅฎณใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใซใ€ๅคง่„ณ็šฎ่ณชใฎๆฉŸ่ƒฝไฝŽไธ‹ใจใฆใ‚“ใ‹ใ‚“ใŒใ—ใฐใ—ใฐๅ‡บ็พใ™ใ‚‹ใ€‚็ฝน็—…็Ž‡ใฏ๏ผ‘ๅนดใซ100๏ฝž200ไบบใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200581NANDO:1200552
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/129-201704-kojin.pdf
rdfs:label - "HSP60 chaperon็—…" - @ja
rdfs:label - "Mitochondrial Hsp60 chaperonopathy" - @en
+ rdfs:label + "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7090https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01841
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157183.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.nanbyou.or.jp/entry/4513
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "AESD" + @en
+ skos:altLabel + "Acute encephalopathy with biphasic seizures and late reduced diffusion" + @en
+ skos:altLabel + "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012824http://purl.obolibrary.org/obo/MONDO_0018198
skos:prefLabel - "HSP60 chaperon็—…" + "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200582 +
http://nanbyodata.jp/ontology/NANDO_1200553 (rdf:type owl:Class @@ -45477,70 +53732,94 @@

hasNotificationNumber139hasNotificationNumber130
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใฏใ€ๅ…จ่บซใฎ็„ก็—›ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ€้‹ๅ‹•้บป็—บใ‚’ไผดใ‚ใชใ„ใ€‚ๆธฉ็—›่ฆš้šœๅฎณใซ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใ‚’ใ€้บไผๆ€งๆ„Ÿ่ฆš่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจๅ‘ผใถใŒใ€ใ“ใฎใ†ใก๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใŒๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใซ็›ธๅฝ“ใ™ใ‚‹๏ผˆ๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใฏๆ˜Ž็ขบใชๅŒบๅˆฅใŒๅ›ฐ้›ฃใง่‡จๅบŠ็—‡็ŠถใŒใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใŸใ‚ใ€ไธก่€…ใ‚’ๅซใ‚ใ‚‹๏ผ‰ใ€‚๏ผ”ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใซใ€ๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ๅˆใฏๆถˆๅคฑใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€๏ผ•ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’็คบใ™ใŒ็™บๆฑ—ไฝŽไธ‹ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไผดใ‚ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€๏ผ”ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚็ฒพ็ฅž็™บ้”้…ๆปžใŒใ”ใ่ปฝๅบฆใฎๆ‚ฃ่€…ใ€๏ผ•ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚่ปฝๅบฆใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’็คบใ™ๆ‚ฃ่€…ใ‚‚ใŠใ‚Šใ€่ฟ‘ๅนดใ“ใ‚Œใ‚‰ใฏใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200582NANDO:1200553
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-07-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/130-201704-kojin.pdf
rdfs:label - "Salla disease" + "Congenital Insensitivity to Pain with Anhidrosis" @en
rdfs:label - "ใ‚ตใƒฉ็—…" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใคใ†ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4251http://nanbyodata.jp/ontology/NANDO_2200854
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2733
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01836
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157231.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4360
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011449http://purl.obolibrary.org/obo/MONDO_0009746
skos:prefLabel - "ใ‚ตใƒฉ็—…" + "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200583 +
http://nanbyodata.jp/ontology/NANDO_1200554 (rdf:type owl:Class @@ -45548,60 +53827,94 @@

hasNotificationNumber139hasNotificationNumber131
+ dcterms:description + "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ๏ผˆGFAP๏ผ‰ใ€ฮฑ B-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็ŠถๅŠใณMRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹๏ผˆ๏ผ‘ๅž‹๏ผ‰ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹๏ผˆ๏ผ’ๅž‹๏ผ‰ใ€ไธญ้–“ๅž‹๏ผˆ๏ผ“ๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใซใŠใ„ใฆGFAPใฎใƒŸใ‚นใ‚ปใƒณใ‚นๅค‰็•ฐใ‚ใ‚‹ใ„ใฏๆ•ฐๅกฉๅŸบๆฌ ๅคฑใ‚„ๆŒฟๅ…ฅใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใซใคใ„ใฆใฏ็ ”็ฉถใŒ้€ฒใฟใคใคใ‚ใ‚‹ใŒๅๅˆ†่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๆฒป็™‚ใฏๅฏพ็—‡็™‚ๆณ•ใซใจใฉใพใ‚‹ใ€‚" + @ja
dcterms:identifier1200583NANDO:1200554
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-08-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdf
rdfs:label - "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum" + "Alexander Disease" @en
rdfs:label - "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + "ใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttp://nanbyodata.jp/ontology/NANDO_2200835
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1723
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00065
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4345
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008752
skos:prefLabel - "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
- - + - - + + - + - + + "ใ ใ„ใฎใ†ใ‚†ใ†ใ„ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200584 +
http://nanbyodata.jp/ontology/NANDO_1200555 (rdf:type owl:Class @@ -45609,70 +53922,86 @@

hasNotificationNumber139hasNotificationNumber131
dcterms:identifier1200584NANDO:1200555
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-09-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdf
rdfs:label - "Hypomyelination and congenital cataract" + "Alexander disease type I" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6796 + rdfs:label + "ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.nanbyou.or.jp/entry/4345
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1200554
+ skos:altLabel + "1ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + @ja
+ skos:altLabel + "cerebral Alexander disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012514http://purl.obolibrary.org/obo/MONDO_0018209
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" + "ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
- - + - - + + - + - + + "ใˆใ‚“ใšใ„ใƒปใ›ใใšใ„ใ‚†ใ†ใ„ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200585 +
http://nanbyodata.jp/ontology/NANDO_1200556 (rdf:type owl:Class @@ -45680,70 +54009,86 @@

hasNotificationNumber139hasNotificationNumber131
dcterms:identifier1200585NANDO:1200556
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-10-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdf
rdfs:label - "Ataxia, delayed dentition, and hypomyelination" + "Alexander disease type II" @en
rdfs:label - "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4645 + rdfs:label + "ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.nanbyou.or.jp/entry/4345
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1200554
+ skos:altLabel + "2ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + @ja
+ skos:altLabel + "bulbospinal Alexander disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011897http://purl.obolibrary.org/obo/MONDO_0018210
skos:prefLabel - "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" + "ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + + "3ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + @ja - +
http://nanbyodata.jp/ontology/nando#1200586 +
http://nanbyodata.jp/ontology/NANDO_1200557 (rdf:type owl:Class @@ -45751,77 +54096,84 @@

hasNotificationNumber139hasNotificationNumber131
dcterms:identifier1200586NANDO:1200557
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-11-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/131-201704-kojin.pdf
rdfs:label - "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease" + "Alexander disease type III" @en
rdfs:label - "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6479http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1723
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157121.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886https://www.nanbyou.or.jp/entry/4345
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200575http://nanbyodata.jp/ontology/NANDO_1200554
skos:altLabel - "PCWH" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012198http://purl.obolibrary.org/obo/MONDO_0008752
skos:prefLabel - "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200587 +
http://nanbyodata.jp/ontology/NANDO_1200558 (rdf:type owl:Class @@ -45829,84 +54181,117 @@

hasNotificationNumber140hasNotificationNumber132
dcterms:description - "๏ผ‘ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใ€ๅ…จ่บซๅผท็›ด้–“ไปฃ็™บไฝœใ‚„ๅŠ่บซๆ€ง้–“ไปฃ็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€็™บ็†ฑ่ช˜็™บใ‘ใ„ใ‚Œใ‚“ใ€ใ‘ใ„ใ‚Œใ‚“้‡็ฉใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€่–ฌ็‰ฉๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใ€ใจใ„ใ†็‰นๅพดใ‚’ใ‚‚ใคใ€‚๏ผ‘ๆญณใ‚’้ŽใŽใ‚‹ใจ็™บ้”้…ๆปžใ‚„้‹ๅ‹•ๅคฑ่ชฟใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„ๆฌ ็ฅž็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅŽŸๅ› ใจใ—ใฆSCN1A้บไผๅญใฎ็•ฐๅธธใ‚’้ซ˜็Ž‡ใซ่ชใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฎ๏ผ‘ใคใ€‚" + "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ๏ผˆใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค๏ผ‰ใฏใ€่ƒŽๅ…ใ‹ใ‚‰ๆ–ฐ็”Ÿๅ…ๆœŸใฎ้ž้€ฒ่กŒๆ€ง่„ณ้šœๅฎณใซใ‚ˆใ‚Šๅ’ฝ้ ญๅ–‰้ ญ้ƒจ๏ผˆ็ƒ็ญ‹๏ผ‰ใฎ้‹ๅ‹•้šœๅฎณใ‚’ๆฅใ—ใ€ๅšฅไธ‹ใ€ๆ‘‚้ฃŸใ€ไผš่ฉฑใ€ๅ”พๆถฒใ‚ณใƒณใƒˆใƒผใƒซใฎๆฉŸ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็—‡็Šถใฏๆˆ้•ทใซไผดใฃใฆๅค‰ๅŒ–ใ™ใ‚‹ใŒใ€ๆถˆๅคฑใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚็ตŒ้Žใฏ่„ณๆ€ง้บป็—บใซไผผใ‚‹ใŒใ€ไธŠไธ‹่‚ขใฎ้‹ๅ‹•้šœๅฎณใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅ‚ใ‚ทใƒซใƒ“ใ‚ฆใ‚น่ฃ‚็—‡ๅ€™็พคใจใฏ็•ฐใชใ‚Šใ€็”ปๅƒไธŠ็—…ๅค‰ใ‚’ไผดใ‚ใชใ„ใ€‚" @ja
dcterms:identifier1200587NANDO:1200558
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/140-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/132-201704-kojin.pdf
rdfs:label - "Dravet syndrome" + "Congenital Suprabulbar Paresis" @en
rdfs:label - "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ˜ใ‚‡ใ†ใ›ใ„ใใ‚…ใ†ใพใฒ" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01818http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1482
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157254.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01837
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4744https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157225.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Dorabe syndrome" + "Congenital supranuclear bulbar palsy" + @en
+ skos:altLabel + "Worcester drought syndrome" + @en
+ skos:altLabel + "Worster-Drought syndrome" @en
+ skos:altLabel + "ใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011794http://purl.obolibrary.org/obo/MONDO_0008503
skos:prefLabel - "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200588 +
http://nanbyodata.jp/ontology/NANDO_1200559 (rdf:type owl:Class @@ -45914,84 +54299,101 @@

hasNotificationNumber141hasNotificationNumber133
dcterms:description - "ใฆใ‚“ใ‹ใ‚“ๅŽŸๆ€ง็„ฆ็‚นใ‚’ๅด้ ญ่‘‰ใฎๅ†…ๅดใซๆœ‰ใ™ใ‚‹้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใงใ€ใ‹ใค็—…็†ๅญฆ็š„ใซๆตท้ฆฌ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ€‚ๆŽจๅฎš็—…ๅ› ใ€่‡จๅบŠ็ตŒ้Žใ€็™บไฝœ็—‡็Šถใ€่„ณๆณขๆ‰€่ฆ‹ใ€็”ปๅƒๆ‰€่ฆ‹ใชใฉใŒใŠใŠใ‚€ใญๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ€‚ไธŠ่…น้ƒจไธๅฟซๆ„Ÿใชใฉใฎๅ‰ๅ…†ใ€ๅผท็›ดใ‚„่‡ชๅ‹•็—‡ใ‚’ไผดใ†่ค‡้›‘้ƒจๅˆ†็™บไฝœใ‚’่ชใ‚ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใซๆฅตใ‚ใฆๆŠตๆŠ—ใ™ใ‚‹ใŒใ€ไธ€ๅดใฎๆตท้ฆฌ็กฌๅŒ–็—‡ใฎๅ ดๅˆใฏๅค–็ง‘็š„ๆฒป็™‚ใฎๆˆ็ธพใฏใ‚ˆใ„ใ€‚" + "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€ๅฐ‘ใชใใจใ‚‚็”Ÿ็”ฃๅ…๏ผ˜ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ๅ…จๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏ1,000ไบบๅ‰ๅพŒใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200588NANDO:1200559
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/141-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/133-201704-kojin.pdf
rdfs:label - "Mesial Temporal Lobe Epilepsy with Bilateral Hippocampal Sclerosis" + "Moebius syndrome" @en
rdfs:label - "ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“" + "ใ‚ใณใ†ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01826http://nanbyodata.jp/ontology/NANDO_2200980
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157154.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=997
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4438https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01840
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157306.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5326
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Mesial temporal lobe epilepsy with hippocampal sclerosis" + "Mobius Syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020476http://purl.obolibrary.org/obo/MONDO_0008006
skos:prefLabel - "ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“" + "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200589 +
http://nanbyodata.jp/ontology/NANDO_1200560 (rdf:type owl:Class @@ -45999,72 +54401,84 @@

hasNotificationNumber142hasNotificationNumber134
dcterms:description - "ไธป็—‡็ŠถใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅž็™บไฝœ๏ผˆๆ„่ญ˜ใฏๆ›‡ใ‚Šใ€ไธกไธŠ่‚ขใ‚’ไธญๅฟƒใจใ™ใ‚‹ๅ››่‚ขใฎๅพ‹ๅ‹•็š„ใชใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆ€งๆ”ฃ็ธฎใจๅผท็›ดๆ€งๅŽ็ธฎใ‚’็‰นๅพดใจใ™ใ‚‹็‰น็•ฐใช็™บไฝœๅž‹๏ผ‰ใงใ‚ใ‚Šใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ‚‚่ชใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ—ๆญณ๏ผˆ11ใ‹ๆœˆ๏ฝž12ๆญณ๏ผ–ใ‹ๆœˆ๏ผ‰ใงใ€็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข๏ผˆDe Morsier๏ผ‰็—‡ๅ€™็พคใฏใ€้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ๏ผ“็—‡็Šถใ‚’ๆฅใ™ๅ…ธๅž‹ไพ‹ใฏ30๏ผ…ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200589NANDO:1200560
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/142-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/134-201704-kojin.pdf
rdfs:label - "Myoclonic absence epilepsy" + "Septo-optic Dysplasia / De Morsier syndrome" @en
rdfs:label - "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“" + "ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†/ใฉใ‚‚ใ‚‹ใ—ใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01822http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1408
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157300.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157250.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4597https://www.nanbyou.or.jp/entry/4402
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100011
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008428
skos:prefLabel - "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“" + "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200590 +
http://nanbyodata.jp/ontology/NANDO_1200561 (rdf:type owl:Class @@ -46072,84 +54486,127 @@

hasNotificationNumber143
- dcterms:description - "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅฐๅž‹้‹ๅ‹•็™บไฝœ๏ผˆใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ€ๅคฑ็ซ‹็™บไฝœใ€่„ฑๅŠ›็™บไฝœใชใฉ๏ผ‰ใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“็พคใฏใ€ใใฎ็‰น็•ฐใช็™บไฝœๅž‹ใ‚„ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงไธ–็•Œ็š„ใซๆ—ฉใใ‹ใ‚‰ๆณจ็›ฎใ•ใ‚ŒใฆใใŸใ€‚ไธญใงใ‚‚๏ผ‘ๆญณไปฅไธŠใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใ—ใฆใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผšLGS๏ผ‰ใŒใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณขใจๅผท็›ด็™บไฝœใ€้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใชใฉใฎๅคšๅฝฉใช็™บไฝœๅž‹ใ‚’ๆŒใค็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒใ€Dooseใ‚‰ใฏๆญฃๅธธ็™บ้”ๅนผๅ…ใงใ€้บไผๆ€ง็ด ๅ› ใ‚’่ƒŒๆ™ฏใจใ—ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไธปๅพดใจใ™ใ‚‹ใ€ŒใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ใ€ใ‚’ๆๅ”ฑใ—ใŸใ€‚ๆฝœๅ› ๆ€งLGSใ€ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใ‚„ไนณๅ…่‰ฏๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจใฎ็•ฐๅŒใŒๅ•้กŒใจใชใฃใŸๆ™‚ๆœŸใ‚‚ใ‚ใ‚‹ใŒใ€1989ๅนดๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใ‚ˆใ‚Š็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ่ช็Ÿฅใ•ใ‚ŒใŸใ€‚" - @jahasNotificationNumber134
dcterms:identifier1200590NANDO:1200561
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/143-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/134-201704-kojin.pdf
rdfs:label - "Epilepsy with Myoclonic Atonic Seizures" + "Septo-optic dysplasia" @en
rdfs:label - "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“" + "ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01823http://nanbyodata.jp/ontology/NANDO_2200820
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157301.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1408
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4417https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00544
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157250.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4402
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200560
skos:altLabel - "Epilepsy with myoclonic cataplexy" + "De Morsier syndrome" + @en
+ skos:altLabel + "SOD" @en
+ skos:altLabel + "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅธธ็—‡" + @ja
+ skos:altLabel + "ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅฝขๆˆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016025http://purl.obolibrary.org/obo/MONDO_0008428
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019029
skos:prefLabel - "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“" + "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200591 +
http://nanbyodata.jp/ontology/NANDO_1200562 (rdf:type owl:Class @@ -46157,82 +54614,94 @@

hasNotificationNumber144hasNotificationNumber135
dcterms:description - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" + "1965ๅนดใซAicardiใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่„ณๆขๆฌ ๆใ€็‚น้ ญใฆใ‚“ใ‹ใ‚“ใ€็ถฒ่„ˆ็ตก่†œ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ๆง˜ใ€…ใช็จฎ้กžใฎ่„ณๅฅ‡ๅฝขใ€้›ฃ็Ÿฅๆ€ง็—™ๆ”ฃใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ๅ‘ˆใ—ใ€ๆœฌ็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ฅž็ตŒ็™บ็”Ÿ็•ฐๅธธใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŽŸๅ› ใ‚‚ไธๆ˜Žใงใ‚ใ‚‹ใŸใ‚ๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier1200591NANDO:1200562
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/144-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/135-201704-kojin.pdf
rdfs:label - "Lennox-Gastaut syndrome" + "Aicardi syndrome" @en
rdfs:label - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" + "ใ‚ใ„ใ‹ใ‚‹ใงใƒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4447http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3384
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01813http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3385
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157321.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01776
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4889https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157111.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4393
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016532http://purl.obolibrary.org/obo/MONDO_0010568
skos:prefLabel - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" + "ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200592 +
http://nanbyodata.jp/ontology/NANDO_1200563 (rdf:type owl:Class @@ -46240,84 +54709,84 @@

hasNotificationNumber145hasNotificationNumber136
dcterms:description - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" + "็‰‡ๅดๅทจ่„ณ็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซไธ€ๅดใฎๅคง่„ณๅŠ็ƒใŒๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚ŠๅทจๅคงๅŒ–ใ—ใŸ็Šถๆ…‹ใงใ€้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใ€ไธๅ…จ็‰‡้บป็—บใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใฎไธ‰ไธปๅพดใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใฎใชใ„ๅญค็™บๆ€ง ๏ผˆisolated form๏ผ‰ ใจ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใ‚’ๅŸบ็คŽ็–พๆ‚ฃใจใ™ใ‚‹็—‡ๅ€™ๆ€ง ๏ผˆsyndromic form๏ผ‰ ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200592NANDO:1200563
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/145-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/136-201704-kojin.pdf
rdfs:label - "West syndrome" + "Hemimegalencephaly" @en
rdfs:label - "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค" + "ใธใ‚“ใใใใ‚‡ใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰‡ๅดๅทจ่„ณ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01460https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01833
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157142.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157292.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4414https://www.nanbyou.or.jp/entry/4783
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:altLabel - "Infantile spasms" - @enhttp://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018097http://purl.obolibrary.org/obo/MONDO_0020492
skos:prefLabel - "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค" + "็‰‡ๅดๅทจ่„ณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200593 +
http://nanbyodata.jp/ontology/NANDO_1200564 (rdf:type owl:Class @@ -46325,79 +54794,79 @@

hasNotificationNumber146hasNotificationNumber137
dcterms:description - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" + "ๅคง่„ณ็šฎ่ณชใซใŠใ‘ใ‚‹ๅฑ€ๆ‰€็š„ใช็™บ็”Ÿ็•ฐๅธธ๏ผˆ็ฅž็ตŒ็ดฐ่ƒžใฎ็™บ็”Ÿใ€ๅข—ๆฎ–ๅŠใณ้Š่ตฐใฎ้šœๅฎณ๏ผ‰ใซ้–ข้€ฃใ—ใŸ็—…ๅทฃใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธปใซไนณๅนผๅ…๏ฝžๅญฆ็ซฅๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€ไธญๅญฆ็”Ÿไปฅ้™ใ‚ใ‚‹ใ„ใฏๆˆไบบใงใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚MRIใซใ‚ˆใ‚Š้™ๅฑ€ๆ€งใฎ็šฎ่ณชใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็•ฐๅธธๆ‰€่ฆ‹ใงๆคœๅ‡บใ•ใ‚Œใ‚‹ไธ€ๆ–นใ€MRI็•ฐๅธธใ‚’ๆฌ ใ็—…็†่จบๆ–ญใงๆ˜Žใ‚‰ใ‹ใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณช็ฅž็ตŒ็ดฐ่ƒžใฎ้…ๅˆ—ใŒๆง˜ใ€…ใช็จ‹ๅบฆใซไนฑใ‚Œใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใฎ็‰นๅพดใ‹ใ‚‰ใ‚ฟใ‚คใƒ—ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณชใฎใฉใ“ใซใงใ‚‚็”Ÿใ˜ใ†ใ‚‹ใ€‚" @ja
dcterms:identifier1200593NANDO:1200564
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/146-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Ohtahara syndrome" + "Focal cortical dysplasia" @en
rdfs:label - "ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค" + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„" + @ja-Hira
+ rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157151.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4381https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:altLabel - "Early infantile epileptic encephalopathy with suppression burst" - @enhttp://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016021http://purl.obolibrary.org/obo/MONDO_0019009
skos:prefLabel - "ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใˆใƒผ" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200594 +
http://nanbyodata.jp/ontology/NANDO_1200565 (rdf:type owl:Class @@ -46405,77 +54874,79 @@

hasNotificationNumber147
- dcterms:description - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200594NANDO:1200565
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/147-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Early myoclonic encephalopathy" + "Focal cortical dysplasia type 1a" @en
rdfs:label - "ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01819 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1a" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157234.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4705https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200564
+ skos:altLabel + "FCD ใ‚ฟใ‚คใƒ—1a" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016022http://purl.obolibrary.org/obo/MONDO_0017096
skos:prefLabel - "ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1a" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใณใƒผ" + @ja-Hira - - + + - + - + - - - - - + - - - - + "FCD ใ‚ฟใ‚คใƒ—1b" + @ja - +
http://nanbyodata.jp/ontology/nando#1200595 +
http://nanbyodata.jp/ontology/NANDO_1200566 (rdf:type owl:Class @@ -46483,96 +54954,79 @@

hasNotificationNumber148
- dcterms:description - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200595NANDO:1200566
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/148-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Epilepsy of infancy with migrating focal seizures" + "Focal cortical dysplasia type 1b" @en
rdfs:label - "้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01815 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1b" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157310.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4717https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:altLabel - "Infant epilepsy with migratory focus seizure" - @enhttp://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "Migrating partial seizures in infancy" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017385
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100025http://purl.obolibrary.org/obo/MONDO_0017097
skos:prefLabel - "้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1b" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใ—ใƒผ" + @ja-Hira - - + + - + - + - + + "FCD ใ‚ฟใ‚คใƒ—1c" + @ja - +
http://nanbyodata.jp/ontology/nando#1200596 +
http://nanbyodata.jp/ontology/NANDO_1200567 (rdf:type owl:Class @@ -46580,84 +55034,79 @@

hasNotificationNumber149
- dcterms:description - "็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๅคšใใฏ็‰‡ๅดๆ€ง๏ผ‰ใซๅผ•ใ็ถšใใ€ไธ€้Žๆ€งใพใŸใฏๆ’ไน…็š„ใช็‰‡้บป็—บใ‚’ๆฎ‹ใ™็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใŸ็—‡ไพ‹ใซใŠใ„ใฆใ€ๅพŒใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใฏ๏ผ”ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹้ž็‰น็•ฐ็š„็†ฑๆ€ง็–พๆ‚ฃใซไผดใ†ใ“ใจใŒๅคšใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎ็™บ็—‡ใฏใ€็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พค็™บ็—‡ใ‹ใ‚‰ใŠใ‚ˆใ๏ผ”ๅนดไปฅๅ†…ใŒๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅˆไฝต็—‡ใจใ—ใฆใ€็‰‡้บป็—บใฎไป–ใซ็Ÿฅ็š„้šœๅฎณใ€็ฒพ็ฅž่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200596NANDO:1200567
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/149-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Hemiconvulsion-Hemiplegia-Epilepsy Syndrome" + "Focal cortical dysplasia type 1c" @en
rdfs:label - "็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01808 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1c" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157294.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4408https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "One side convulsions, hemiplegia - epilepsy syndrome" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019485http://purl.obolibrary.org/obo/MONDO_0017098
skos:prefLabel - "็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1c" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท2ใˆใƒผ" + @ja-Hira - - + + - + - + - + - - - - + "FCD ใ‚ฟใ‚คใƒ—2a" + @ja
http://nanbyodata.jp/ontology/nando#1200597 +
http://nanbyodata.jp/ontology/NANDO_1200568 (rdf:type owl:Class @@ -46665,84 +55114,74 @@

hasNotificationNumber150
- dcterms:description - "ไธป็—‡็Šถใฏใ€้›ฃๆฒปใช้ž็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๆ„่ญ˜ใŒๆ›‡ใ‚Šใ€้ฉๅˆ‡ใช่กŒๅ‹•ใŒใงใใชใ„ใ€‚๏ผ‰ใงใ‚ใ‚Šใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅฐๅž‹ๅˆใฏๅคงๅž‹ใฎ้‹ๅ‹•็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใ€้žๅฏพ็งฐๆ€งใฎๅผท็›ด็™บไฝœใ€้Ž้‹ๅ‹•็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ–ๆญณ๏ผˆ๏ผ๏ฝž24ๆญณ๏ผ‰ใ€‚็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ใ•ใพใ–ใพใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200597NANDO:1200568
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/150-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Ring Chromosome 20 Syndrome" + "Focal cortical dysplasia type 2a" @en
rdfs:label - "็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01831 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2a" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157165.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4576https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "Ring chromosome 20 epilepsy syndrome" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015436
skos:prefLabel - "็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2a" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท2ใณใƒผ" + @ja-Hira - - + + - + - + - + - - - - + "FCD ใ‚ฟใ‚คใƒ—2b" + @ja
http://nanbyodata.jp/ontology/nando#1200598 +
http://nanbyodata.jp/ontology/NANDO_1200569 (rdf:type owl:Class @@ -46750,84 +55189,74 @@

hasNotificationNumber151
- dcterms:description - "ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฅๅธธ่€…ใซไฝ•ใ‚‰ใ‹ใฎๅ…ˆ่กŒๆ„ŸๆŸ“็—‡ใ‚„ใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎใŒใ‚ใฃใŸๅพŒใซใ€ใ‚ใ‚‹ใ„ใฏๅ…ˆ่กŒๆ„ŸๆŸ“ใชใ้™ๅฑ€ๆ€งใซ็ดฐ่ƒžๅ‚ทๅฎณๆ€งT็ดฐ่ƒžใ‚’ไธปๅฝนใจใ—ใŸ่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€้€šๅธธใฏใฆใ‚“ใ‹ใ‚“็™บไฝœใง็™บ็—…ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใŒ้›ฃๆฒปใซ็ตŒ้Žใ—ใ€ๆฌก็ฌฌใซ็‰‡้บป็—บใƒป็Ÿฅ็š„้šœๅฎณใชใฉใŒๅ‡บ็พใ—ใ€ๅŠ็ƒๆ€งใฎ่Ž็ธฎใŒMRIใงๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็—…ๅนด้ฝขใฏๅนณๅ‡9.0๏ผˆยฑ10.3๏ผ‰ๆญณใ ใŒใ€ๆˆไบบใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200598NANDO:1200569
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/151-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Rasmussen's Encephalitis" + "Focal cortical dysplasia type 2b" @en
rdfs:label - "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01812 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2b" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157964.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4339https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "Rasmussen encephalitis" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016019
skos:prefLabel - "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2b" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใˆใƒผ" + @ja-Hira - - + + - + - + - - - - - + + "FCD ใ‚ฟใ‚คใƒ—3a" + @ja - +
http://nanbyodata.jp/ontology/nando#1200599 +
http://nanbyodata.jp/ontology/NANDO_1200570 (rdf:type owl:Class @@ -46835,91 +55264,79 @@

hasNotificationNumber152
- dcterms:description - "ๆญฃๅธธๅˆใฏ่ปฝๅบฆใฎ้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œใ‚’ๆœ‰ใ™ใ‚‹ไนณๅนผๅ…ๆœŸใฎๅฅณๅ…ใซใ€็™บ็†ฑใƒปๆ„ŸๆŸ“็—‡็ญ‰ใ‚’ๅฅ‘ๆฉŸใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏไธ€ๅบฆๅ‡บ็พใ™ใ‚‹ใจ้ซ˜็Ž‡ใซ็พค็™บใ—๏ผˆๆ—ฅใซไฝ•ๅบฆใ‚‚็นฐใ‚Š่ฟ”ใ™ใ€‚๏ผ‰ใ€ไปฅ้™ใ‚‚ใ—ใฐใ—ใฐ็™บ็†ฑใชใฉใซไผดใ„้ ‘ๅ›บใช็™บไฝœ็พค็™บใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅพŒใฏใ€ใ—ใฐใ—ใฐ็Ÿฅ็š„้šœๅฎณใŒ้€ฒ่กŒใ—ใ€่‡ช้–‰ใ€ๅคšๅ‹•ใ€็จฎใ€…ใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200599NANDO:1200570
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/152-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "PCDH19-related Syndrome" + "Focal cortical dysplasia type 3a" @en
rdfs:label - "๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3237 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3a" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157269.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4642https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001
- skos:altLabel - "Epilepsy and mental retardation limited to females" - @enhttp://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "PCDH19 Epilepsy" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010246http://purl.obolibrary.org/obo/MONDO_0019009
skos:prefLabel - "๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3a" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใณใƒผ" + @ja-Hira - - + + - + - + - + + "FCD ใ‚ฟใ‚คใƒ—3b" + @ja - +
http://nanbyodata.jp/ontology/nando#1200600 +
http://nanbyodata.jp/ontology/NANDO_1200571 (rdf:type owl:Class @@ -46927,84 +55344,79 @@

hasNotificationNumber153
- dcterms:description - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž๏ผˆacute encephalitis with refractory, repetitive partial seizures ๏ผšAERRPS๏ผ‰ใฏใ€ๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ็„ฆ็‚น็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑๅž‹๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚Febrile infection related epilepsy syndrome ๏ผˆFIRES๏ผ‰ใ€New onset refractory status epilepsy ๏ผˆNORSE๏ผ‰็—‡ๅ€™็พคใจใปใผๅŒ็พฉใงใ‚ใ‚‹ใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š็—™ๆ”ฃใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸใ€็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200600NANDO:1200571
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/153-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Acute encephalitis with refractory, repetitive partial seizures" + "Focal cortical dysplasia type 3b" @en
rdfs:label - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01829 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3b" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157258.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4459https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "Refractory frequent partial seizures intussusception acute encephalitis" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015584http://purl.obolibrary.org/obo/MONDO_0019009
skos:prefLabel - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3b" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + "FCD ใ‚ฟใ‚คใƒ—3c" + @ja + + + +
http://nanbyodata.jp/ontology/nando#1200601 +
http://nanbyodata.jp/ontology/NANDO_1200572 (rdf:type owl:Class @@ -47012,74 +55424,79 @@

hasNotificationNumber154
- dcterms:description - "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200601NANDO:1200572
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/154-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Epileptic Encephalopathy with Continuous Spike-and-Wave During Sleep" + "Focal cortical dysplasia type 3c" @en
rdfs:label - "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡" + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใ—ใƒผ" + @ja-Hira
+ rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3c" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157210.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4654https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "Epilepsy with continuous spikes and waves during slow sleep" - @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019009
skos:prefLabel - "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3c" @ja
- - + - - - - - - + + - + - + - - - - + "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใงใƒใƒผ" + @ja-Hira - - + + - + - + - + + "FCD ใ‚ฟใ‚คใƒ—3d" + @ja - +
http://nanbyodata.jp/ontology/nando#1200602 +
http://nanbyodata.jp/ontology/NANDO_1200573 (rdf:type owl:Class @@ -47087,89 +55504,79 @@

hasNotificationNumber155
- dcterms:description - "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber137
dcterms:identifier1200602NANDO:1200573
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/155-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/137-201704-kojin.pdf
rdfs:label - "Landau-Kleffner Syndrome" + "Focal cortical dysplasia type 3d" @en
rdfs:label - "ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2499
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01514 + rdfs:label + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3d" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157313.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157185.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4411https://www.nanbyou.or.jp/entry/4456
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200564
skos:altLabel - "Acquired aphasia with convulsive disorder" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009509http://purl.obolibrary.org/obo/MONDO_0019009
skos:prefLabel - "ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค" + "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3d" @ja
- - + - - + + - + - + + "ใ—ใ‚“ใ‘ใ„ใ•ใ„ใผใ†ใ„ใฉใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200603 +
http://nanbyodata.jp/ontology/NANDO_1200574 (rdf:type owl:Class @@ -47177,89 +55584,98 @@

hasNotificationNumber156hasNotificationNumber138
dcterms:description - "1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚" + "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•๏ผˆๅพŒ๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผˆ็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใจ่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผ‰ใ€ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆใ€่ฃ‚่„ณ็—‡ใ€ๅญ”่„ณ็—‡ใ‚’ๅซใ‚€ใ€‚" @ja
dcterms:identifier1200603NANDO:1200574
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/156-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/138-201704-kojin.pdf
rdfs:label - "Rett's Syndrome" + "Neuronal Migration Defects" @en
rdfs:label - "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3558 + rdfs:label + "็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00440https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01835
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157966.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157211.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4366https://www.nanbyou.or.jp/entry/4396
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Rett syndrome" + "Lissencephaly" + @en
+ skos:altLabel + "Nerve cell migration disorders" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010726http://purl.obolibrary.org/obo/MONDO_0018838
skos:prefLabel - "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + "็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡" @ja
- - + - - + + + + + + - + - - + + + + + + - + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200604 +
http://nanbyodata.jp/ontology/NANDO_1200575 (rdf:type owl:Class @@ -47267,46 +55683,91 @@

hasNotificationNumber156hasNotificationNumber139
+ dcterms:description + "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + @ja
dcterms:identifier1200604NANDO:1200575
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/156-201704-kojin.pdf + rdfs:label + "Congenital hypomyelinating leukodystrophy" + @en
rdfs:label - "ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157966.docxhttp://nanbyodata.jp/ontology/NANDO_2200836
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4366https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00679
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4887
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200603http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Congenital cerebral white matter aplasia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019046
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200605 +
http://nanbyodata.jp/ontology/NANDO_1200576 (rdf:type owl:Class @@ -47314,65 +55775,82 @@

hasNotificationNumber156hasNotificationNumber139
dcterms:identifier1200605NANDO:1200576
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/156-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-01-201704-kojin.pdf
rdfs:label - "Atypical Rett syndrome" + "Pelizaeus-Merzbacher disease" @en
rdfs:label - "้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157966.docxhttp://nanbyodata.jp/ontology/NANDO_2201288
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4366http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3546
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200603http://nanbyodata.jp/ontology/NANDO_1200575
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017746http://purl.obolibrary.org/obo/MONDO_0010714
skos:prefLabel - "้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…" @ja
- - + - - - - - - + + - + - + + "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใ‚ˆใ†ใณใ‚‡ใ†1" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200606 +
http://nanbyodata.jp/ontology/NANDO_1200577 (rdf:type owl:Class @@ -47380,82 +55858,77 @@

hasNotificationNumber157
- dcterms:description - "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€่„ณๅ†…ใฎ่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใฎใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ€็œผใฎ็ท‘ๅ†…้šœใ‚’ๆœ‰ใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใชใฉใŒๅ•้กŒใจใชใ‚‹ใ€‚" - @jahasNotificationNumber139
dcterms:identifier1200606NANDO:1200577
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/157-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-02-201704-kojin.pdf
rdfs:label - "Sturge-Weber syndrome" + "Pelizaeus-Merzbacher like disease" @en
rdfs:label - "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1479 + rdfs:label + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01809http://nanbyodata.jp/ontology/NANDO_2201289
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157218.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4307https://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200575
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008501http://purl.obolibrary.org/obo/MONDO_0017226
skos:prefLabel - "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200607 +
http://nanbyodata.jp/ontology/NANDO_1200578 (rdf:type owl:Class @@ -47463,99 +55936,89 @@

hasNotificationNumber158
- dcterms:description - "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆtuberous sclerosis complex๏ผšTSC๏ผ‰ใฏใ€ๅŽŸๅ› ้บไผๅญTSC1ใ€TSC2ใฎ็”ฃ็”Ÿใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใƒใƒžใƒซใƒใƒณใ€ใƒใƒฅใƒ™ใƒชใƒณใฎ่ค‡ๅˆไฝ“ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ไธ‹ๆตใฎmTORC1ใฎๆŠ‘ๅˆถใŒใจใ‚Œใ‚‹ใŸใ‚ใซใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใชใฉใฎ่กŒๅ‹•็•ฐๅธธใ‚„ใ€ไธŠ่กฃไธ‹ๅทจ็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ๏ผˆSEGA๏ผ‰ใ€่…Ž่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ€ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใ€้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใชใฉใฎ้Ž่ชค่…ซใ‚’ๅ…จ่บซใซ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber139
dcterms:identifier1200607NANDO:1200578
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/158-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-03-201704-kojin.pdf
rdfs:label - "Tuberous Sclerosis Complex" + "Hypomyelination with atrophy of the basal ganglia and cerebellum" @en
rdfs:label - "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" + "ใใฆใ„ใ‹ใใŠใ‚ˆใณใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1589http://nanbyodata.jp/ontology/NANDO_2201290
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00915http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7147
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157184.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4384https://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200575
skos:altLabel - "Tuberous sclerosis" + "HABC" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001734
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008612
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019341http://purl.obolibrary.org/obo/MONDO_0012905
skos:prefLabel - "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" + "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200608 +
http://nanbyodata.jp/ontology/NANDO_1200579 (rdf:type owl:Class @@ -47563,77 +56026,82 @@

hasNotificationNumber159
- dcterms:description - "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ใฏใ€ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ๏ผ˜ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ‚ฟใ‚คใƒ—ใซใ‚ˆใ‚Šๆง˜ใ€…ใช็ฅž็ตŒ็—‡็Šถใ‚’ๆฅใ™ใ“ใจใ‚‚ใ‚ใ‚‹ๅ…จ่บซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber139
dcterms:identifier1200608NANDO:1200579
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/159-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-04-201704-kojin.pdf
rdfs:label - "Xeroderma pigmentosum" + "18q-syndrome" @en
rdfs:label - "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + "18qๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
+ rdfs:label + "18ใใ‚…ใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01428http://nanbyodata.jp/ontology/NANDO_2201291
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157203.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3965
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/112https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1200575
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019600http://purl.obolibrary.org/obo/MONDO_0011147
skos:prefLabel - "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + "18qๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200609 +
http://nanbyodata.jp/ontology/NANDO_1200580 (rdf:type owl:Class @@ -47641,77 +56109,77 @@

hasNotificationNumber160
- dcterms:description - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€็šฎ่†šใฎใƒใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ€‚ๅ‡บ็”Ÿๆ™‚ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซใ€ๅ…จ่บซๅˆใฏๅบƒ็ฏ„ๅ›ฒใฎ็šฎ่†šใŒๅŽšใ„่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ไปฅไธ‹ใฎ๏ผ”็ดฐๅˆ†้กžใ‚’ๅซใ‚€ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็ดฐๅˆ†้กž๏ผ‘๏ผšใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ๏ผˆ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€งใƒปๅŠฃๆ€ง๏ผ‰ใ€่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ’๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ ็ดฐๅˆ†้กž๏ผ“๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ใ€่‘‰็Šถ้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ”๏ผš้ญš้ฑ—็™ฌ็—‡ๅ€™็พค๏ผˆใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พคใ€ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พคใ€KID๏ผˆkeratitis-ichtyosis-deafness๏ผ‰็—‡ๅ€™็พคใ€ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พคใ€ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ใ€ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใ€ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature๏ผˆIBID๏ผ‰ใ€Trichothiodystrophyใ€ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌใ€CHILD๏ผˆcongenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects๏ผ‰็—‡ๅ€™็พคใ€Conradi-Hรผnermann-Happle็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰" - @jahasNotificationNumber139
dcterms:identifier1200609NANDO:1200580
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-05-201704-kojin.pdf
rdfs:label - "Congenital ichthyosis" + "Allan-Herndon-Dudley syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" + "ใ‚ใ‚‰ใ‚“ใƒปใฏใƒผใ‚“ใฉใ‚“ใƒปใŸใฉใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01771http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6494
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200575
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015947http://purl.obolibrary.org/obo/MONDO_0010354
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" + "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + + "ใˆใ„ใกใˆใ™ใดใƒผ60ใ—ใ‚ƒใบใ‚ใ‚“ใณใ‚‡ใ†" + @ja-Hira - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200610 +
http://nanbyodata.jp/ontology/NANDO_1200581 (rdf:type owl:Class @@ -47719,65 +56187,89 @@

hasNotificationNumber160hasNotificationNumber139
dcterms:identifier1200610NANDO:1200581
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-06-201704-kojin.pdf
rdfs:label - "Keratinopathic ichthyosis" + "HSP60ใ‚ทใƒฃใƒšใƒญใƒณ็—…" + @ja
+ rdfs:label + "Mitochondrial Hsp60 chaperonopathy" @en
rdfs:label - "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttp://nanbyodata.jp/ontology/NANDO_2201293
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7090
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200609http://nanbyodata.jp/ontology/NANDO_1200575
+ skos:altLabel + "HSP60 chaperon็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017266http://purl.obolibrary.org/obo/MONDO_0012824
skos:prefLabel - "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" + "HSP60ใ‚ทใƒฃใƒšใƒญใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200611 +
http://nanbyodata.jp/ontology/NANDO_1200582 (rdf:type owl:Class @@ -47785,75 +56277,108 @@

hasNotificationNumber160hasNotificationNumber139
dcterms:identifier1200611NANDO:1200582
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-07-201704-kojin.pdf
rdfs:label - "Autosomalย dominant epidermolytic ichthyosis" + "Salla disease" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "ใ•ใ‚‰ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒฉ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=212http://nanbyodata.jp/ontology/NANDO_1200149
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttp://nanbyodata.jp/ontology/NANDO_2201294
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4251
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200610http://nanbyodata.jp/ontology/NANDO_1200575
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007239 + skos:altLabel + "SD" + @en
+ skos:altLabel + "Salla็—…" + @ja
+ skos:altLabel + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020702http://purl.obolibrary.org/obo/MONDO_0011449
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "ใ‚ตใƒฉ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200612 +
http://nanbyodata.jp/ontology/NANDO_1200583 (rdf:type owl:Class @@ -47861,65 +56386,72 @@

hasNotificationNumber160hasNotificationNumber139
dcterms:identifier1200612NANDO:1200583
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-08-201704-kojin.pdf
rdfs:label - "Autosomal recessive epidermolytic ichthyosis" + "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใจใฎใ†ใ‚Šใ‚‡ใ†ใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใณใพใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200610http://nanbyodata.jp/ontology/NANDO_1200575
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044742http://purl.obolibrary.org/obo/MONDO_0018655
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200613 +
http://nanbyodata.jp/ontology/NANDO_1200584 (rdf:type owl:Class @@ -47927,70 +56459,89 @@

hasNotificationNumber160hasNotificationNumber139
dcterms:identifier1200613NANDO:1200584
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-09-201704-kojin.pdf
rdfs:label - "Superficial epidermolytic ichthyosis" + "Hypomyelination and congenital cataract" @en
rdfs:label - "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใชใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=805http://nanbyodata.jp/ontology/NANDO_2201296
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6796
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200610http://nanbyodata.jp/ontology/NANDO_1200575
+ skos:altLabel + "HCC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007813http://purl.obolibrary.org/obo/MONDO_0012514
skos:prefLabel - "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200614 +
http://nanbyodata.jp/ontology/NANDO_1200585 (rdf:type owl:Class @@ -47998,75 +56549,89 @@

hasNotificationNumber160hasNotificationNumber139
dcterms:identifier1200614NANDO:1200585
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-10-201704-kojin.pdf
rdfs:label - "Harlequin ichthyosis" + "Ataxia, delayed dentition, and hypomyelination syndrome" @en
rdfs:label - "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" + "ใ—ใฃใกใ‚‡ใ†ใ€ใ—ใŒใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2433http://nanbyodata.jp/ontology/NANDO_2201297
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00733http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4645
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4886
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200609http://nanbyodata.jp/ontology/NANDO_1200575
+ skos:altLabel + "ADDH" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009443http://purl.obolibrary.org/obo/MONDO_0011897
skos:prefLabel - "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" + "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200615 +
http://nanbyodata.jp/ontology/NANDO_1200586 (rdf:type owl:Class @@ -48074,65 +56639,96 @@

hasNotificationNumber160hasNotificationNumber139
dcterms:identifier1200615NANDO:1200586
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/139-11-201704-kojin.pdf
rdfs:label - "Autosomal recessive congenital ichthyosis" + "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease" @en
rdfs:label - "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" + "ใ ใคใšใ„ใŒใŸใพใฃใ—ใ‚‡ใ†ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ€ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ€ใ‚ใƒผใงใ‚“ใฐใƒผใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ€ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttp://nanbyodata.jp/ontology/NANDO_2201298
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6479
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200609 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157229.docx
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017265 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4886
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200575
+ skos:altLabel + "PCWH" + @en
+ skos:altLabel + "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€Waardenburg็—‡ๅ€™็พคใ€Hirschsprung็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012198
skos:prefLabel - "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" + "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200616 +
http://nanbyodata.jp/ontology/NANDO_1200587 (rdf:type owl:Class @@ -48140,65 +56736,91 @@

hasNotificationNumber160hasNotificationNumber140
+ dcterms:description + "๏ผ‘ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใ€ๅ…จ่บซๅผท็›ด้–“ไปฃ็™บไฝœใ‚„ๅŠ่บซๆ€ง้–“ไปฃ็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€็™บ็†ฑ่ช˜็™บใ‘ใ„ใ‚Œใ‚“ใ€ใ‘ใ„ใ‚Œใ‚“้‡็ฉใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€่–ฌ็‰ฉๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใ€ใจใ„ใ†็‰นๅพดใ‚’ใ‚‚ใคใ€‚๏ผ‘ๆญณใ‚’้ŽใŽใ‚‹ใจ็™บ้”้…ๆปžใ‚„้‹ๅ‹•ๅคฑ่ชฟใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„ๆฌ ็ฅž็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅŽŸๅ› ใจใ—ใฆSCN1A้บไผๅญใฎ็•ฐๅธธใ‚’้ซ˜็Ž‡ใซ่ชใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฎ๏ผ‘ใคใ€‚" + @ja
dcterms:identifier1200616NANDO:1200587
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/140-201704-kojin.pdf
rdfs:label - "Congenital Ichthyosiform Erythroderma" + "Dravet syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡" + "ใฉใ‚‰ในใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01818
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157254.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4744
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200615http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Dorabe syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019306http://purl.obolibrary.org/obo/MONDO_0100135
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡" + "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200617 +
http://nanbyodata.jp/ontology/NANDO_1200588 (rdf:type owl:Class @@ -48206,70 +56828,91 @@

hasNotificationNumber160hasNotificationNumber141
+ dcterms:description + "ใฆใ‚“ใ‹ใ‚“ๅŽŸๆ€ง็„ฆ็‚นใ‚’ๅด้ ญ่‘‰ใฎๅ†…ๅดใซๆœ‰ใ™ใ‚‹้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใงใ€ใ‹ใค็—…็†ๅญฆ็š„ใซๆตท้ฆฌ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ€‚ๆŽจๅฎš็—…ๅ› ใ€่‡จๅบŠ็ตŒ้Žใ€็™บไฝœ็—‡็Šถใ€่„ณๆณขๆ‰€่ฆ‹ใ€็”ปๅƒๆ‰€่ฆ‹ใชใฉใŒใŠใŠใ‚€ใญๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ€‚ไธŠ่…น้ƒจไธๅฟซๆ„Ÿใชใฉใฎๅ‰ๅ…†ใ€ๅผท็›ดใ‚„่‡ชๅ‹•็—‡ใ‚’ไผดใ†่ค‡้›‘้ƒจๅˆ†็™บไฝœใ‚’่ชใ‚ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใซๆฅตใ‚ใฆๆŠตๆŠ—ใ™ใ‚‹ใŒใ€ไธ€ๅดใฎๆตท้ฆฌ็กฌๅŒ–็—‡ใฎๅ ดๅˆใฏๅค–็ง‘็š„ๆฒป็™‚ใฎๆˆ็ธพใฏใ‚ˆใ„ใ€‚" + @ja
dcterms:identifier1200617NANDO:1200588
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/141-201704-kojin.pdf
rdfs:label - "Lamellar ichthyosis" + "Mesial Temporal Lobe Epilepsy with Bilateral Hippocampal Sclerosis" @en
rdfs:label - "่‘‰็Šถ้ญš้ฑ—็™ฌ" + "ใ‹ใ„ใฐใ“ใ†ใ‹ใ‚’ใจใ‚‚ใชใ†ใชใ„ใใใใใจใ†ใ‚ˆใ†ใฆใ‚“ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01826
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157154.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4438
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200615http://nanbyodata.jp/ontology/NANDO_1100001
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017778 + skos:altLabel + "Mesial temporal lobe epilepsy with hippocampal sclerosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019306http://purl.obolibrary.org/obo/MONDO_0020476
skos:prefLabel - "่‘‰็Šถ้ญš้ฑ—็™ฌ" + "ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200618 +
http://nanbyodata.jp/ontology/NANDO_1200589 (rdf:type owl:Class @@ -48277,65 +56920,84 @@

hasNotificationNumber160hasNotificationNumber142
+ dcterms:description + "ไธป็—‡็ŠถใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅž็™บไฝœ๏ผˆๆ„่ญ˜ใฏๆ›‡ใ‚Šใ€ไธกไธŠ่‚ขใ‚’ไธญๅฟƒใจใ™ใ‚‹ๅ››่‚ขใฎๅพ‹ๅ‹•็š„ใชใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆ€งๆ”ฃ็ธฎใจๅผท็›ดๆ€งๅŽ็ธฎใ‚’็‰นๅพดใจใ™ใ‚‹็‰น็•ฐใช็™บไฝœๅž‹๏ผ‰ใงใ‚ใ‚Šใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ‚‚่ชใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ—ๆญณ๏ผˆ11ใ‹ๆœˆ๏ฝž12ๆญณ๏ผ–ใ‹ๆœˆ๏ผ‰ใงใ€็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200618NANDO:1200589
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/142-201704-kojin.pdf
rdfs:label - "Ichthyosis syndrome" + "Myoclonic absence epilepsy" @en
rdfs:label - "้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" + "ใฟใŠใใ‚ใซใƒผใ‘ใฃใ—ใ‚“ใฆใ‚“ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01822
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157300.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4597
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200609http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019269http://purl.obolibrary.org/obo/MONDO_0019487
skos:prefLabel - "้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" + "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“" @ja
- - + - - + + + + + + - + - + + "ใฟใŠใใ‚ใซใƒผใ ใคใ‚Šใ‚‡ใใปใฃใ•ใ‚’ใจใ‚‚ใชใ†ใฆใ‚“ใ‹ใ‚“" + @ja-Hira - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200619 +
http://nanbyodata.jp/ontology/NANDO_1200590 (rdf:type owl:Class @@ -48343,75 +57005,91 @@

hasNotificationNumber160hasNotificationNumber143
+ dcterms:description + "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅฐๅž‹้‹ๅ‹•็™บไฝœ๏ผˆใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ€ๅคฑ็ซ‹็™บไฝœใ€่„ฑๅŠ›็™บไฝœใชใฉ๏ผ‰ใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“็พคใฏใ€ใใฎ็‰น็•ฐใช็™บไฝœๅž‹ใ‚„ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงไธ–็•Œ็š„ใซๆ—ฉใใ‹ใ‚‰ๆณจ็›ฎใ•ใ‚ŒใฆใใŸใ€‚ไธญใงใ‚‚๏ผ‘ๆญณไปฅไธŠใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใ—ใฆใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผšLGS๏ผ‰ใŒใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณขใจๅผท็›ด็™บไฝœใ€้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใชใฉใฎๅคšๅฝฉใช็™บไฝœๅž‹ใ‚’ๆŒใค็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒใ€Dooseใ‚‰ใฏๆญฃๅธธ็™บ้”ๅนผๅ…ใงใ€้บไผๆ€ง็ด ๅ› ใ‚’่ƒŒๆ™ฏใจใ—ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไธปๅพดใจใ™ใ‚‹ใ€ŒใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ใ€ใ‚’ๆๅ”ฑใ—ใŸใ€‚ๆฝœๅ› ๆ€งLGSใ€ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใ‚„ไนณๅ…่‰ฏๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจใฎ็•ฐๅŒใŒๅ•้กŒใจใชใฃใŸๆ™‚ๆœŸใ‚‚ใ‚ใ‚‹ใŒใ€1989ๅนดๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใ‚ˆใ‚Š็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ่ช็Ÿฅใ•ใ‚ŒใŸใ€‚" + @ja
dcterms:identifier1200619NANDO:1200590
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/143-201704-kojin.pdf
rdfs:label - "Netherton syndrome" + "Epilepsy with Myoclonic Atonic Seizures" @en
rdfs:label - "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2721 + rdfs:label + "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00671https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01823
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157301.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4417
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Epilepsy with myoclonic cataplexy" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009735http://purl.obolibrary.org/obo/MONDO_0016025
skos:prefLabel - "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" + "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200620 +
http://nanbyodata.jp/ontology/NANDO_1200591 (rdf:type owl:Class @@ -48419,82 +57097,94 @@

hasNotificationNumber160hasNotificationNumber144
+ dcterms:description + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200620NANDO:1200591
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/144-201704-kojin.pdf
rdfs:label - "Sjรถgren-Larsson syndrome" + "Lennox-Gastaut syndrome" @en
rdfs:label - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใ‚Œใฎใฃใใ™ใƒปใŒใ™ใจใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3013http://nanbyodata.jp/ontology/NANDO_2200879
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00162http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4447
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01813
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157321.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4889
- skos:altLabel - "Sjogren-Larsson syndrome" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010031http://purl.obolibrary.org/obo/MONDO_0016532
skos:prefLabel - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "West syndrome" + @en + "ใ†ใˆใ™ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200621 +
http://nanbyodata.jp/ontology/NANDO_1200592 (rdf:type owl:Class @@ -48502,72 +57192,103 @@

hasNotificationNumber160hasNotificationNumber145
+ dcterms:description + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200621NANDO:1200592
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/145-201704-kojin.pdf
rdfs:label - "KID็—‡ๅ€™็พค" - @ja
rdfs:label - "Keratitis-ichthyosis-deafness syndrome" - @en
+ rdfs:label + "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttp://nanbyodata.jp/ontology/NANDO_2200878
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01460
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157142.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4414
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "KID syndrome" + "Infantile spasms" @en
+ skos:altLabel + "็‚น้ ญใฆใ‚“ใ‹ใ‚“" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018781http://purl.obolibrary.org/obo/MONDO_0018097
skos:prefLabel - "KID็—‡ๅ€™็พค" + "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "ใŠใŠใŸใฏใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - - - - - + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200622 +
http://nanbyodata.jp/ontology/NANDO_1200593 (rdf:type owl:Class @@ -48575,87 +57296,86 @@

hasNotificationNumber160hasNotificationNumber146
+ dcterms:description + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200622NANDO:1200593
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/146-201704-kojin.pdf
rdfs:label - "Dorfman-Chanarin syndrome" + "Ohtahara syndrome" @en
rdfs:label - "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3139
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00736 + rdfs:label + "ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157151.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4381
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Chanarin-Dorfman Syndrome" + "Early infantile epileptic encephalopathy with suppression burst" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010155
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015611http://purl.obolibrary.org/obo/MONDO_0100062
skos:prefLabel - "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค" + "ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200623 +
http://nanbyodata.jp/ontology/NANDO_1200594 (rdf:type owl:Class @@ -48663,84 +57383,84 @@

hasNotificationNumber160hasNotificationNumber147
+ dcterms:description + "็”ŸๅพŒ1ใƒถๆœˆไปฅๅ†…๏ผˆใพใ‚Œใซ3ใƒถๆœˆไปฅๅ†…๏ผ‰ใซ็™บ็—‡ใ™ใ‚‹้‡ใ„ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡๏ผˆใฆใ‚“ใ‹ใ‚“ใฎใŸใ‚็Ÿฅ่ƒฝ้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใŒ่ตทใ‚‹็Šถๆ…‹๏ผ‰ใงใ€ใพใถใŸใ€้ก”ใ€ๆ‰‹่ถณใชใฉใฎไธ่ฆๅ‰‡ใง้ƒจๅˆ†็š„ใชใ€ใฐใ‚‰ใฐใ‚‰ใฎใƒ”ใ‚ฏใƒ”ใ‚ฏใ—ใŸๅ‹•ใ๏ผˆerratic myoclonus๏ผšไธ่ฆๅ‰‡ใช ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น ๏ผ‰ใงใฏใ˜ใพใ‚Šใ€่‡ชๅ‹•็—‡๏ผˆใ‚ใกใ“ใกใŒๅ‹ๆ‰‹ใซๅ‹•ใ๏ผ‰ใ€ๅ‘ผๅธใ‚’ๆญขใ‚ใ‚‹ใ€้ก”ใŒ่ตคใใชใ‚‹ใ“ใจใชใฉใ‚’ไผดใ†ใ„ใ‚ใ„ใ‚ใช้ƒจๅˆ†็™บไฝœใŒ็พใ‚Œใพใ™ใ€‚ๆ™‚ใซๅ…จ่บซใ‚’ใƒ”ใ‚ฏใƒ”ใ‚ฏใ•ใ›ใ‚‹ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅพŒใซใฏไฝ“ใ‚’ๅ›บใ็ชใฃๅผตใ‚‹ๅผท็›ด็™บไฝœใ€ไธ€็žฌใณใใ‚“ใจๅ‹•ใ็™บไฝœ๏ผˆใ‚นใƒ‘ใ‚บใƒ ๏ผ‰ใ‚‚ใพใ‚Œใซใ‚ใ‚Šใพใ™ใ€‚่„ณๆณขใŒ็‰นๅพด็š„ใงใ‚ใ‚Šใ€ๅ…จไฝ“็š„ใช็™บไฝœๆณขใจใปใจใ‚“ใฉๅนณใ‚‰ใซใชใ‚‹ใ“ใจใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚ตใƒ—ใƒฌใƒƒใ‚ทใƒงใƒณใƒปใƒใƒผใ‚นใƒˆใจใ„ใ†ๅฝขใ‚’็คบใ—ใ€็ก็œ ๆ™‚ใซใ‚ˆใ‚Šใฏใฃใใ‚Šใ—ใพใ™ใ€‚็™บไฝœใฏๆฅตใ‚ใฆ้ ป็™บใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌใ‚„ACTH็™‚ๆณ•ใ€ใ‚ฑใƒˆใƒณ้ฃŸใงใฏๆญขใพใ‚‰ใšใ€ใฆใ‚“ใ‹ใ‚“ๅค–็ง‘ๆ‰‹่ก“ใซใ‚‚ๅฝ“ใฆใฏใพใ‚Šใพใ›ใ‚“ใ€‚็™บไฝœใฎ็ตŒ้Žใ€็™บ้”ใฎ็ตŒ้Žใจใ‚‚ใซๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚Šใ€ๅŠๆ•ฐใฏ1ๆญณไปฅๅ†…ใซๆญปไบกใ—ใ€ๆฎ‹ใ‚Šใ‚‚ๅ…จใฆๅฏใŸใใ‚Šใซใชใ‚‹ใจใ„ใ†ใ€้žๅธธใซๅŽณใ—ใ„็—…ๆฐ—ใงใ™ใ€‚ๅŽŸๅ› ใจใ—ใฆใ€ๆฌง็ฑณใงใฏใ€็”Ÿใพใ‚Œใคใไฝ“ใฎไธญใงๅฟ…่ฆใชใ‚‚ใฎใŒไฝœใ‚‰ใ‚Œใชใ„ ๅ…ˆๅคฉๆ€ง ไปฃ่ฌ็•ฐๅธธ็—‡ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใพใ™ใŒใ€ใ‚ใŒๅ›ฝใงใฏ่„ณใฎๅฝขๆ…‹็•ฐๅธธใŒๅฐ‘ใชใใ‚ใ‚Šใพใ›ใ‚“ใ€‚ใ„ใใคใ‹ใฎ้บไผๅญใฎ็•ฐๅธธใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใพใ™ใŒใ€ๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œไธ–็•Œใงใ‚‚๏ผ‘๏ฝž3ไบบใฎใฟใงใ™ใ€‚" + @ja
dcterms:identifier1200623NANDO:1200594
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/147-201704-kojin.pdf
rdfs:label - "Neutral lipid storage disease with ichthyosis" + "Early myoclonic encephalopathy" @en
rdfs:label - "ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡" + "ใใ†ใใฟใŠใใ‚ใซใƒผใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3139https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01819
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157234.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4705
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618
- skos:altLabel - "NLSDI" - @en
- skos:altLabel - "ichthyotic neutral lipid storage disease" - @enhttp://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010155http://purl.obolibrary.org/obo/MONDO_0016022
skos:prefLabel - "ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡" + "ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200624 +
http://nanbyodata.jp/ontology/NANDO_1200595 (rdf:type owl:Class @@ -48748,70 +57468,103 @@

hasNotificationNumber160hasNotificationNumber148
+ dcterms:description + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200624NANDO:1200595
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/148-201704-kojin.pdf
rdfs:label - "Multiple sulfatase deficiency" + "Epilepsy of infancy with migrating focal seizures" @en
rdfs:label - "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "ใ‚†ใ†ใใ†ใ›ใ„ใ—ใ‚‡ใ†ใฆใ‚“ใปใฃใ•ใ‚’ใจใ‚‚ใชใ†ใซใ‚…ใ†ใ˜ใฆใ‚“ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01815
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157310.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4717
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Infant epilepsy with migratory focus seizure" + @en
+ skos:altLabel + "Migrating partial seizures in infancy" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010088http://purl.obolibrary.org/obo/MONDO_0017385
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100025
skos:prefLabel - "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200625 +
http://nanbyodata.jp/ontology/NANDO_1200596 (rdf:type owl:Class @@ -48819,60 +57572,91 @@

hasNotificationNumber160hasNotificationNumber149
+ dcterms:description + "็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๅคšใใฏ็‰‡ๅดๆ€ง๏ผ‰ใซๅผ•ใ็ถšใใ€ไธ€้Žๆ€งใพใŸใฏๆ’ไน…็š„ใช็‰‡้บป็—บใ‚’ๆฎ‹ใ™็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใŸ็—‡ไพ‹ใซใŠใ„ใฆใ€ๅพŒใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใฏ๏ผ”ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹้ž็‰น็•ฐ็š„็†ฑๆ€ง็–พๆ‚ฃใซไผดใ†ใ“ใจใŒๅคšใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎ็™บ็—‡ใฏใ€็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พค็™บ็—‡ใ‹ใ‚‰ใŠใ‚ˆใ๏ผ”ๅนดไปฅๅ†…ใŒๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅˆไฝต็—‡ใจใ—ใฆใ€็‰‡้บป็—บใฎไป–ใซ็Ÿฅ็š„้šœๅฎณใ€็ฒพ็ฅž่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200625NANDO:1200596
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/149-201704-kojin.pdf
rdfs:label - "Recessive X-linked ichtyosis" + "Hemiconvulsion-Hemiplegia-Epilepsy Syndrome" @en
rdfs:label - "X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" + "ใธใ‚“ใใใ‘ใ„ใ‚Œใ‚“ใƒปใ‹ใŸใพใฒใƒปใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01808
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157294.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4408
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "One side convulsions, hemiplegia - epilepsy syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019485
skos:prefLabel - "X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" + "็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "Ring Chromosome 20 Syndrome" + @en + "ใ‹ใ‚“ใ˜ใ‚‡ใ†20ใฐใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200626 +
http://nanbyodata.jp/ontology/NANDO_1200597 (rdf:type owl:Class @@ -48880,67 +57664,91 @@

hasNotificationNumber160hasNotificationNumber150
+ dcterms:description + "ไธป็—‡็Šถใฏใ€้›ฃๆฒปใช้ž็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๆ„่ญ˜ใŒๆ›‡ใ‚Šใ€้ฉๅˆ‡ใช่กŒๅ‹•ใŒใงใใชใ„ใ€‚๏ผ‰ใงใ‚ใ‚Šใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅฐๅž‹ๅˆใฏๅคงๅž‹ใฎ้‹ๅ‹•็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใ€้žๅฏพ็งฐๆ€งใฎๅผท็›ด็™บไฝœใ€้Ž้‹ๅ‹•็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ–ๆญณ๏ผˆ๏ผ๏ฝž24ๆญณ๏ผ‰ใ€‚็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ใ•ใพใ–ใพใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200626NANDO:1200597
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/150-201704-kojin.pdf
rdfs:label - "IBID" - @ja
rdfs:label - "ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature" - @en
+ rdfs:label + "็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01831
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157165.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4576
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "IBID" + "Ring chromosome 20 epilepsy syndrome" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015436
skos:prefLabel - "IBID" + "็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + - - - - + "Rasmussen encephalitis" + @en - +
http://nanbyodata.jp/ontology/nando#1200627 +
http://nanbyodata.jp/ontology/NANDO_1200598 (rdf:type owl:Class @@ -48948,77 +57756,96 @@

hasNotificationNumber160hasNotificationNumber151
+ dcterms:description + "ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฅๅธธ่€…ใซไฝ•ใ‚‰ใ‹ใฎๅ…ˆ่กŒๆ„ŸๆŸ“็—‡ใ‚„ใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎใŒใ‚ใฃใŸๅพŒใซใ€ใ‚ใ‚‹ใ„ใฏๅ…ˆ่กŒๆ„ŸๆŸ“ใชใ้™ๅฑ€ๆ€งใซ็ดฐ่ƒžๅ‚ทๅฎณๆ€งT็ดฐ่ƒžใ‚’ไธปๅฝนใจใ—ใŸ่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€้€šๅธธใฏใฆใ‚“ใ‹ใ‚“็™บไฝœใง็™บ็—…ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใŒ้›ฃๆฒปใซ็ตŒ้Žใ—ใ€ๆฌก็ฌฌใซ็‰‡้บป็—บใƒป็Ÿฅ็š„้šœๅฎณใชใฉใŒๅ‡บ็พใ—ใ€ๅŠ็ƒๆ€งใฎ่Ž็ธฎใŒMRIใงๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็—…ๅนด้ฝขใฏๅนณๅ‡9.0๏ผˆยฑ10.3๏ผ‰ๆญณใ ใŒใ€ๆˆไบบใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใ€‚" + @ja
dcterms:identifier1200627NANDO:1200598
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/151-201704-kojin.pdf
rdfs:label - "Trichothiodystrophy" + "Rasmussen's Encephalitis" @en
rdfs:label - "็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡" + "ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttp://nanbyodata.jp/ontology/NANDO_2200900
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01812
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157964.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4339
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Trichothiodystrophy" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002470
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018053http://purl.obolibrary.org/obo/MONDO_0016019
skos:prefLabel - "็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡" + "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200628 +
http://nanbyodata.jp/ontology/NANDO_1200599 (rdf:type owl:Class @@ -49026,60 +57853,98 @@

hasNotificationNumber160hasNotificationNumber152
+ dcterms:description + "ๆญฃๅธธๅˆใฏ่ปฝๅบฆใฎ้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œใ‚’ๆœ‰ใ™ใ‚‹ไนณๅนผๅ…ๆœŸใฎๅฅณๅ…ใซใ€็™บ็†ฑใƒปๆ„ŸๆŸ“็—‡็ญ‰ใ‚’ๅฅ‘ๆฉŸใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏไธ€ๅบฆๅ‡บ็พใ™ใ‚‹ใจ้ซ˜็Ž‡ใซ็พค็™บใ—๏ผˆๆ—ฅใซไฝ•ๅบฆใ‚‚็นฐใ‚Š่ฟ”ใ™ใ€‚๏ผ‰ใ€ไปฅ้™ใ‚‚ใ—ใฐใ—ใฐ็™บ็†ฑใชใฉใซไผดใ„้ ‘ๅ›บใช็™บไฝœ็พค็™บใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅพŒใฏใ€ใ—ใฐใ—ใฐ็Ÿฅ็š„้šœๅฎณใŒ้€ฒ่กŒใ—ใ€่‡ช้–‰ใ€ๅคšๅ‹•ใ€็จฎใ€…ใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚" + @ja
dcterms:identifier1200628NANDO:1200599
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/152-201704-kojin.pdf
rdfs:label - "Ichthyosis Follicularis" + "PCDH19-related Syndrome" @en
rdfs:label - "ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ" + "ใดใƒผใ—ใƒผใงใƒใƒผใˆใ„ใก19ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3237
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157269.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4642
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Epilepsy and mental retardation limited to females" + @en
+ skos:altLabel + "PCDH19 Epilepsy" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010246
skos:prefLabel - "ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ" + "๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "Acute encephalitis with refractory, repetitive partial seizures" + @en + "ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“" + @ja-Hira + + + + - + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200629 +
http://nanbyodata.jp/ontology/NANDO_1200600 (rdf:type owl:Class @@ -49087,82 +57952,96 @@

hasNotificationNumber160hasNotificationNumber153
+ dcterms:description + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž๏ผˆacute encephalitis with refractory, repetitive partial seizures ๏ผšAERRPS๏ผ‰ใฏใ€ๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ็„ฆ็‚น็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑๅž‹๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚Febrile infection related epilepsy syndrome ๏ผˆFIRES๏ผ‰ใ€New onset refractory status epilepsy ๏ผˆNORSE๏ผ‰็—‡ๅ€™็พคใจใปใผๅŒ็พฉใงใ‚ใ‚‹ใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š็—™ๆ”ฃใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸใ€็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200629NANDO:1200600
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/153-201704-kojin.pdf
rdfs:label - "CHILD็—‡ๅ€™็พค" - @ja
rdfs:label - "congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome" - @en
+ rdfs:label + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3446http://nanbyodata.jp/ontology/NANDO_2200903
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01829
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157258.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4459
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "CHILD syndrome" + "Refractory frequent partial seizures intussusception acute encephalitis" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010621
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017015http://purl.obolibrary.org/obo/MONDO_0015584
skos:prefLabel - "CHILD็—‡ๅ€™็พค" + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200630 +
http://nanbyodata.jp/ontology/NANDO_1200601 (rdf:type owl:Class @@ -49170,72 +58049,91 @@

hasNotificationNumber160hasNotificationNumber154
+ dcterms:description + "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200630NANDO:1200601
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/154-201704-kojin.pdf
rdfs:label - "Conradi Hรผnermann Happle syndrome" + "Epileptic Encephalopathy with Continuous Spike-and-Wave During Sleep" @en
rdfs:label - "Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค" + "ใ˜ใ‚‡ใฏใ™ใ„ใฟใ‚“ใใ˜ใžใใ›ใ„ใใ‚‡ใใ˜ใ‚‡ใฏใ‚’ใ—ใ‚ใ™ใฆใ‚“ใ‹ใ‚“ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157210.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139https://www.nanbyou.or.jp/entry/4654
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200618http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Conradi Hunermann Happle syndrome" + "Epilepsy with continuous spikes and waves during slow sleep" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020603http://purl.obolibrary.org/obo/MONDO_0019123
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022858
skos:prefLabel - "Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค" + "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200631 +
http://nanbyodata.jp/ontology/NANDO_1200602 (rdf:type owl:Class @@ -49243,103 +58141,96 @@

hasNotificationNumber161hasNotificationNumber155
dcterms:description - "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก๏ผˆใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็šฎ่†š็–พๆ‚ฃใงใ€็”Ÿไธ‹ๆ™‚ใซใฏ็šฎ่†š็—…ๅค‰ใฏใชใ้’ๅฃฎๅนดๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…‹็ชฉใƒป้™ฐ่‚ก้ƒจใƒป้ ธ้ƒจใƒป่‚›ๅ›ฒใชใฉใฎ้–“ๆ“ฆ้ƒจใซๅฐๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ€็—‚็šฎใ‚’ๅฝขๆˆใ™ใ‚‹ใŒใ€ใ‚ˆใ‚Šๅบƒ็ฏ„ๅ›ฒใซ็šฎ่†š็—…ๅค‰ใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้€šๅธธใ€ไบˆๅพŒ่‰ฏๅฅฝใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅคๅญฃใซๆ‚ชๅŒ–ใ—ใ€็ดซๅค–็ทšๆ›้œฒใ‚„ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ€ไบŒๆฌกๆ„ŸๆŸ“ใŒๅข—ๆ‚ชๅ› ๅญใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏใ€่กจ็šฎๅŸบๅบ•ๅฑค็›ดไธŠใ‹ใ‚‰ไธŠๅฑคใฎๆฃ˜่ž่งฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏATP2C1ใงใ‚ใ‚‹ใ€‚" + "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200631NANDO:1200602
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/161-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/155-201704-kojin.pdf
rdfs:label - "Benign Familial Pemphigus" + "Landau-Kleffner Syndrome" @en
rdfs:label - "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก" + "ใ‚‰ใ‚“ใฉใ†ใƒปใใ‚Œใตใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1198http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2499
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00844https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01514
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157157.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157313.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4489https://www.nanbyou.or.jp/entry/4411
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003
- skos:altLabel - "Familial benign chronic pemphigus" - @enhttp://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Hailey-Hailey disease" + "Acquired aphasia with convulsive disorder" @en
- skos:altLabel - "ใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008218http://purl.obolibrary.org/obo/MONDO_0009509
skos:prefLabel - "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก" + "ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + + "Rett ็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#1200632 +
http://nanbyodata.jp/ontology/NANDO_1200603 (rdf:type owl:Class @@ -49347,84 +58238,101 @@

hasNotificationNumber162hasNotificationNumber156
dcterms:description - "่กจ็šฎๅŸบๅบ•่†œๆง‹ๆˆใ‚ฟใƒณใƒ‘ใ‚ฏใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆIgG๏ผ‰ใซใ‚ˆใฃใฆใ€่กจ็šฎไธ‹ๆฐด็–ฑใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑ็—‡ใ€‚ๅ…จ่บซใฎ็šฎ่†šๅŠใณ็ฒ˜่†œใซใ€ๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹ใ€‚้กžๅคฉ็–ฑ็˜กใซใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็šฎ่†šใซ็—‡็Šถ๏ผ‰ใจ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็ฒ˜่†œใซ็—‡็Šถ๏ผ‰ใฎไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜กใจ่‡จๅบŠ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€็—…็†ๅญฆ็š„ๆ‰€่ฆ‹ใ€่›ๅ…‰ๆŠ—ไฝ“ๆณ•ๆ‰€่ฆ‹ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€็พๆ™‚็‚นใงใฏๅŒไธ€ใฎ็–พ็—…ใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" + "1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier1200632NANDO:1200603
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/156-201704-kojin.pdf
rdfs:label - "Pemphigoid ๏ผˆincluding Epidermolysis Bullosa Acquisita๏ผ‰" + "Rett syndrome" @en
rdfs:label - "้กžๅคฉ็–ฑ็˜ก" + "ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01650http://nanbyodata.jp/ontology/NANDO_2200825
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3558
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4525https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00440
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157966.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4366
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Pemphigoid" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019082http://purl.obolibrary.org/obo/MONDO_0010726
skos:prefLabel - "้กžๅคฉ็–ฑ็˜ก" + "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200633 +
http://nanbyodata.jp/ontology/NANDO_1200604 (rdf:type owl:Class @@ -49432,65 +58340,84 @@

hasNotificationNumber162hasNotificationNumber156
dcterms:identifier1200633NANDO:1200604
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/156-201704-kojin.pdf
rdfs:label - "bullous pemphigoid" + "typical Rett syndrome" @en
rdfs:label - "ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก" + "ใฆใ‚“ใ‘ใ„ใฆใใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3558
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4525https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157966.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4366
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200632http://nanbyodata.jp/ontology/NANDO_1200603
+ skos:altLabel + "ๅ…ธๅž‹็š„Rett็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019082http://purl.obolibrary.org/obo/MONDO_0010726
skos:prefLabel - "ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก" + "ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200634 +
http://nanbyodata.jp/ontology/NANDO_1200605 (rdf:type owl:Class @@ -49498,65 +58425,79 @@

hasNotificationNumber162hasNotificationNumber156
dcterms:identifier1200634NANDO:1200605
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/156-201704-kojin.pdf
rdfs:label - "mucous membrane pemphigoid" + "Atypical Rett syndrome" @en
rdfs:label - "็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก" + "ใฒใฆใ‚“ใ‘ใ„ใฆใใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157966.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4525https://www.nanbyou.or.jp/entry/4366
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200632http://nanbyodata.jp/ontology/NANDO_1200603
+ skos:altLabel + "้žๅ…ธๅž‹็š„Rett็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018746http://purl.obolibrary.org/obo/MONDO_0017746
skos:prefLabel - "็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก" + "้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200635 +
http://nanbyodata.jp/ontology/NANDO_1200606 (rdf:type owl:Class @@ -49564,65 +58505,94 @@

hasNotificationNumber162hasNotificationNumber157
+ dcterms:description + "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€่„ณๅ†…ใฎ่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใฎใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ€็œผใฎ็ท‘ๅ†…้šœใ‚’ๆœ‰ใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใชใฉใŒๅ•้กŒใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200635NANDO:1200606
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/157-201704-kojin.pdf
rdfs:label - "Epidermolysis bullosa acquisita" + "Sturge-Weber syndrome" @en
rdfs:label - "ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡" + "ใ™ใŸใƒผใ˜ใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docxhttp://nanbyodata.jp/ontology/NANDO_2200830
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4525http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1479
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01809
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157218.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4307
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200632http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018747http://purl.obolibrary.org/obo/MONDO_0008501
skos:prefLabel - "ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡" + "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200636 +
http://nanbyodata.jp/ontology/NANDO_1200607 (rdf:type owl:Class @@ -49630,86 +58600,101 @@

hasNotificationNumber163hasNotificationNumber158
dcterms:description - "็™บๆฑ—ใ‚’ไฟƒใ™็’ฐๅขƒไธ‹๏ผˆ้ซ˜ๆธฉใ€ๅคšๆนฟ๏ผ‰ใซใŠใ„ใฆใ‚‚ใ€็™บๆฑ—ใŒใฟใ‚‰ใ‚Œใชใ„็–พๆ‚ฃใ‚’็„กๆฑ—็—‡ใจใ„ใ†ใ€‚ใพใ‚Œใช็–พๆ‚ฃใง็™บ็—‡็Ž‡ใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใ€‚็„กๆฑ—ใฎใŸใ‚ใ€็šฎ่†šใฏไนพ็‡ฅใ—ใ€ๆ™‚ใซใฏใ‚ณใƒชใƒณๆ€ง่•้บป็–นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€้ซ˜ๆธฉใฎ็’ฐๅขƒไธ‹ใซใŠใ„ใฆไฝ“ๆธฉ่ชฟ็ฏ€ใŒใงใใš็†ฑไธญ็—‡ใ‚’ๅฎนๆ˜“ใซ็™บ็—‡ใ—็™บ็†ฑใ€่„ฑๅŠ›ๆ„Ÿใ€็–ฒๅŠดๆ„Ÿใ€ใ‚ใพใ„ใ€ๅ‹•ๆ‚ธใ•ใ‚‰ใซใฏๆ„่ญ˜้šœๅฎณใชใฉ้‡็ฏคใช็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅคใซใฏๅค–ๅ‡บใงใใชใใชใ‚‹ใชใฉใฎ็”Ÿๆดปใฎๅˆถ้™ใŒใ‚ใ‚ŠQOLใŒ่‘—ใ—ใๆใชใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†้กžใ•ใ‚Œๅ…ˆๅคฉๆ€ง็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใ€ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฎๅŽŸๅ› ใฏใ‚จใ‚ฏใƒชใƒณๆฑ—่…บใฎ็•ฐๅธธใ€ไบคๆ„Ÿ็ฅž็ตŒใฎ็•ฐๅธธใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใฎ็™บๆฑ—้šœๅฎณใจๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซใ€็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใชใๆฒป็™‚ใซ่‹ฆๆ…ฎใ™ใ‚‹็–พๆ‚ฃใงใ‚ใฃใŸใ€‚็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏใ€็‰น็™บๆ€งๅˆ†็ฏ€ๅž‹็„กๆฑ—็—‡ใจidiopathic pure sudomtor fairlure๏ผˆIPSF๏ผ‰ใชใฉใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใใฎ็—…ๆ…‹ใฏๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใชใ„ใ€‚" + "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆtuberous sclerosis complex๏ผšTSC๏ผ‰ใฏใ€ๅŽŸๅ› ้บไผๅญTSC1ใ€TSC2ใฎ็”ฃ็”Ÿใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใƒใƒžใƒซใƒใƒณใ€ใƒใƒฅใƒ™ใƒชใƒณใฎ่ค‡ๅˆไฝ“ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ไธ‹ๆตใฎmTORC1ใฎๆŠ‘ๅˆถใŒใจใ‚Œใ‚‹ใŸใ‚ใซใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใชใฉใฎ่กŒๅ‹•็•ฐๅธธใ‚„ใ€ไธŠ่กฃไธ‹ๅทจ็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ๏ผˆSEGA๏ผ‰ใ€่…Ž่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ€ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใ€้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใชใฉใฎ้Ž่ชค่…ซใ‚’ๅ…จ่บซใซ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200636NANDO:1200607
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/163-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/158-201704-kojin.pdf
rdfs:label - "Acquired Idiopathic Generalized Anhidrosis" + "Tuberous Sclerosis Complex" @en
rdfs:label - "็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡" + "ใ‘ใฃใ›ใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01848http://nanbyodata.jp/ontology/NANDO_2200826
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157253.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00915
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4390https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157184.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4384
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Idiopathic acquired systemic anhidrosis" + "Tuberous sclerosis" @en
- skos:altLabel - "Idiopathic pure sudomotor failure" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001734
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019341
skos:prefLabel - "็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡" + "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200637 +
http://nanbyodata.jp/ontology/NANDO_1200608 (rdf:type owl:Class @@ -49717,77 +58702,89 @@

hasNotificationNumber164hasNotificationNumber159
dcterms:description - "ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซใฎ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใ€้’ใ‹ใ‚‰็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€่ฆ–ๅŠ›้šœๅฎณใ€็™ฝใ‹ใ‚‰่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ใฏใ€ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ๏ผ˜ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ‚ฟใ‚คใƒ—ใซใ‚ˆใ‚Šๆง˜ใ€…ใช็ฅž็ตŒ็—‡็Šถใ‚’ๆฅใ™ใ“ใจใ‚‚ใ‚ใ‚‹ๅ…จ่บซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200637NANDO:1200608
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/159-201704-kojin.pdf
rdfs:label - "Oculocutaneous albinism" + "Xeroderma pigmentosum" @en
rdfs:label - "็œผ็šฎ่†š็™ฝ็šฎ็—‡" + "ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00168http://nanbyodata.jp/ontology/NANDO_2201002
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01428
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4492https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157203.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/112
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011http://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018910http://purl.obolibrary.org/obo/MONDO_0019600
skos:prefLabel - "็œผ็šฎ่†š็™ฝ็šฎ็—‡" + "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200638 +
http://nanbyodata.jp/ontology/NANDO_1200609 (rdf:type owl:Class @@ -49795,70 +58792,84 @@

hasNotificationNumber164hasNotificationNumber160
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€็šฎ่†šใฎใƒใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ€‚ๅ‡บ็”Ÿๆ™‚ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซใ€ๅ…จ่บซๅˆใฏๅบƒ็ฏ„ๅ›ฒใฎ็šฎ่†šใŒๅŽšใ„่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ไปฅไธ‹ใฎ๏ผ”็ดฐๅˆ†้กžใ‚’ๅซใ‚€ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็ดฐๅˆ†้กž๏ผ‘๏ผšใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ๏ผˆ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€งใƒปๅŠฃๆ€ง๏ผ‰ใ€่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ’๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ ็ดฐๅˆ†้กž๏ผ“๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ใ€่‘‰็Šถ้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ”๏ผš้ญš้ฑ—็™ฌ็—‡ๅ€™็พค๏ผˆใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พคใ€ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พคใ€KID๏ผˆkeratitis-ichtyosis-deafness๏ผ‰็—‡ๅ€™็พคใ€ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พคใ€ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ใ€ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใ€ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature๏ผˆIBID๏ผ‰ใ€Trichothiodystrophyใ€ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌใ€CHILD๏ผˆcongenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects๏ผ‰็—‡ๅ€™็พคใ€Conradi-Hรผnermann-Happle็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰" + @ja
dcterms:identifier1200638NANDO:1200609
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Hermansky-Pudlak syndrome" + "Congenital ichthyosis" @en
rdfs:label - "ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00166https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01771
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4492https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200637http://nanbyodata.jp/ontology/NANDO_1100003
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019312http://purl.obolibrary.org/obo/MONDO_0015947
skos:prefLabel - "ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - + + - + - + + "ใ‘ใ‚‰ใกใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200639 +
http://nanbyodata.jp/ontology/NANDO_1200610 (rdf:type owl:Class @@ -49866,75 +58877,77 @@

hasNotificationNumber164hasNotificationNumber160
dcterms:identifier1200639NANDO:1200610
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Chรฉdiak-Higashi syndrome" + "Keratinopathic ichthyosis" @en
rdfs:label - "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1940 + rdfs:label + "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02021http://nanbyodata.jp/ontology/NANDO_2200987
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4492https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200637http://nanbyodata.jp/ontology/NANDO_1200609
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008963http://purl.obolibrary.org/obo/MONDO_0017266
skos:prefLabel - "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" + "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200640 +
http://nanbyodata.jp/ontology/NANDO_1200611 (rdf:type owl:Class @@ -49942,70 +58955,77 @@

hasNotificationNumber164hasNotificationNumber160
dcterms:identifier1200640NANDO:1200611
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Griscelli syndrome" + "Autosomal dominant epidermolytic ichthyosis" @en
rdfs:label - "ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02022http://nanbyodata.jp/ontology/NANDO_2200988
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4492https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200637http://nanbyodata.jp/ontology/NANDO_1200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018306http://purl.obolibrary.org/obo/MONDO_0020702
skos:prefLabel - "ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค" + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200641 +
http://nanbyodata.jp/ontology/NANDO_1200612 (rdf:type owl:Class @@ -50013,72 +59033,77 @@

hasNotificationNumber164hasNotificationNumber160
dcterms:identifier1200641NANDO:1200612
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "non-syndromicย oculocutaneous albinism" + "Autosomal recessive epidermolytic ichthyosis" @en
rdfs:label - "้ž็—‡ๅ€™ๅž‹ใฎ็œผ็šฎ่†š็™ฝ็šฎ็—‡" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docxhttp://nanbyodata.jp/ontology/NANDO_2200989
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4492https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200637 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
- skos:altLabel - "้ž็—‡ๅ€™ๆ€ง็œผ็šฎ่†š็™ฝ็šฎ็—‡" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018910http://purl.obolibrary.org/obo/MONDO_0044742
skos:prefLabel - "้ž็—‡ๅ€™ๅž‹ใฎ็œผ็šฎ่†š็™ฝ็šฎ็—‡" + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200642 +
http://nanbyodata.jp/ontology/NANDO_1200613 (rdf:type owl:Class @@ -50086,77 +59111,82 @@

hasNotificationNumber165
- dcterms:description - "ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽšๆ€งๅค‰ๅŒ–๏ผˆ้ ญ้ƒจ่„ณๅ›ž่ปข็Šถ็šฎ่†šใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1868ๅนดใ€FriedreichใŒ๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ใใฎๅพŒใ€็จฎใ€…ใฎๅ็งฐใงๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸๅฝ“่ฉฒ็–พๆ‚ฃใฏ1935ๅนดTouraineใ‚‰ใซใ‚ˆใฃใฆ่‡จๅบŠไบœๅž‹ใ‚’็”จใ„ใŸๆœฌ็—‡ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200642NANDO:1200613
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/165-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Pachydermoperiostosis" + "Superficial epidermolytic ichthyosis" @en
rdfs:label - "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + "ใฒใ‚‡ใ†ใ–ใ„ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157270.docxhttp://nanbyodata.jp/ontology/NANDO_2200990
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4603http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=805
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009799 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016620http://purl.obolibrary.org/obo/MONDO_0007813
skos:prefLabel - "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200643 +
http://nanbyodata.jp/ontology/NANDO_1200614 (rdf:type owl:Class @@ -50164,87 +59194,87 @@

hasNotificationNumber166
- dcterms:description - "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ๏ผˆPXE๏ผ‰ใฏใ€ๅผพๆ€ง็ทš็ถญใซๅค‰ๆ€งใƒป็Ÿณ็ฐๅŒ–ใŒ็”Ÿใ˜็ต„็น”้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใใฎใŸใ‚็šฎ่†šใ€็œผใ€ๅฟƒใƒป่ก€็ฎกใ€ๆถˆๅŒ–็ฎกใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200643NANDO:1200614
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/166-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Pseudoxanthoma elasticum" + "Harlequin ichthyosis" @en
rdfs:label - "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ" + "ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2912http://nanbyodata.jp/ontology/NANDO_2200992
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00560http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2433
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157247.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00733
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4579https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009925 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200609
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024308http://purl.obolibrary.org/obo/MONDO_0009443
skos:prefLabel - "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ" + "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + - + - - - - + "ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ„ใŒใ„ใฎใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200644 +
http://nanbyodata.jp/ontology/NANDO_1200615 (rdf:type owl:Class @@ -50252,89 +59282,72 @@

hasNotificationNumber167
- dcterms:description - "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใ™ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200644NANDO:1200615
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/167-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Marfan's Syndrome" + "Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis" @en
rdfs:label - "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=942
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653 + rdfs:label + "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157297.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4792https://www.nanbyou.or.jp/entry/288
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003
- skos:altLabel - "Marfan syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_1200609
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007947http://purl.obolibrary.org/obo/MONDO_0017265
skos:prefLabel - "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" + "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200645 +
http://nanbyodata.jp/ontology/NANDO_1200616 (rdf:type owl:Class @@ -50342,67 +59355,72 @@

hasNotificationNumber168
- dcterms:description - "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค๏ผˆEhlers-Danlos syndrome๏ผšEDS๏ผ‰ใฏใ€็šฎ่†šใ€้–ข็ฏ€ใ€่ก€็ฎกใชใฉๅ…จ่บซ็š„ใช็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใซๅŸบใฅใ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅŽŸๅ› ใจ็—‡็Šถใ‹ใ‚‰ใ€๏ผ–ใคใฎไธป็—…ๅž‹๏ผˆๅคๅ…ธๅž‹ใ€้–ข็ฏ€ๅž‹ใ€่ก€็ฎกๅž‹ใ€ๅพŒๅดๅฝŽๅž‹ใ€ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ€็šฎ่†š่„†ๅผฑๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ…จ็—…ๅž‹ใ‚’ๅˆใ‚ใ›ใŸๆŽจๅฎš้ ปๅบฆใฏ็ด„๏ผ‘/5,000ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆœ€่ฟ‘ใ€้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญ็ ”็ฉถ็ญใซใŠใ„ใฆ่ฆ‹ๅ‡บใ—ใ€็–พๆ‚ฃๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸใ€ŒD4ST1ๆฌ ๆใซๅŸบใฅใEDS๏ผˆDDEDS๏ผ‰ใ€ใ‚’ๅซใ‚ใ€ๆ–ฐใŸใช็—…ๅž‹ใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200645NANDO:1200616
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Ehlers-Danlos Syndrome" + "Congenital Ichthyosiform Erythroderma" @en
rdfs:label - "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ‚ˆใ†ใ“ใ†ใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200615
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020066http://purl.obolibrary.org/obo/MONDO_0019306
skos:prefLabel - "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡" @ja
- - + - - + + - + - + + "ใ‚ˆใ†ใ˜ใ‚‡ใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira - - + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200646 +
http://nanbyodata.jp/ontology/NANDO_1200617 (rdf:type owl:Class @@ -50410,77 +59428,77 @@

hasNotificationNumber168hasNotificationNumber160
dcterms:identifier1200646NANDO:1200617
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Ehlers-Danlos syndrome, classic type" + "Lamellar ichthyosis" @en
rdfs:label - "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=509 + rdfs:label + "่‘‰็Šถ้ญš้ฑ—็™ฌ" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200645http://nanbyodata.jp/ontology/NANDO_1200615
- skos:altLabel - "Ehlers-Danlos Syndrome (Classical type)" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017778
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007522http://purl.obolibrary.org/obo/MONDO_0019306
skos:prefLabel - "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "่‘‰็Šถ้ญš้ฑ—็™ฌ" @ja
- - + - - + + - + - + + "ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200647 +
http://nanbyodata.jp/ontology/NANDO_1200618 (rdf:type owl:Class @@ -50488,77 +59506,72 @@

hasNotificationNumber168hasNotificationNumber160
dcterms:identifier1200647NANDO:1200618
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Ehlers-Danlos syndrome, hypermobility type" + "Ichthyosis syndrome" @en
rdfs:label - "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=511 + rdfs:label + "้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200645
- skos:altLabel - "Ehlers-Danlos Syndrome (Hypermobility type)" - @enhttp://nanbyodata.jp/ontology/NANDO_1200609
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007523http://purl.obolibrary.org/obo/MONDO_0019269
skos:prefLabel - "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - - - - + "Netherton็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#1200648 +
http://nanbyodata.jp/ontology/NANDO_1200619 (rdf:type owl:Class @@ -50566,82 +59579,94 @@

hasNotificationNumber168hasNotificationNumber160
dcterms:identifier1200648NANDO:1200619
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Ehlers-Danlos syndrome, vascular type" + "Netherton syndrome" @en
rdfs:label - "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=512http://nanbyodata.jp/ontology/NANDO_1200338
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttp://nanbyodata.jp/ontology/NANDO_2200993
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2721
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/288
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200645http://nanbyodata.jp/ontology/NANDO_1200618
skos:altLabel - "Ehlers-Danlos Syndrome (Vascular type)" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007524
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017314http://purl.obolibrary.org/obo/MONDO_0009735
skos:prefLabel - "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200649 +
http://nanbyodata.jp/ontology/NANDO_1200620 (rdf:type owl:Class @@ -50649,77 +59674,94 @@

hasNotificationNumber168hasNotificationNumber160
dcterms:identifier1200649NANDO:1200620
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Ehlers-Danlos syndrome, kyphoscoliotic type" + "Sjรถgren-Larsson syndrome" @en
rdfs:label - "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใ—ใ‡ใƒผใใ‚Œใ‚“ใƒปใ‚‰ใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2145http://nanbyodata.jp/ontology/NANDO_2200994
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3013
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00162
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200645http://nanbyodata.jp/ontology/NANDO_1200618
skos:altLabel - "Ehlers-Danlos Syndrome (Kyphoscoliosis tyep)" + "Sjogren-Larsson syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016002http://purl.obolibrary.org/obo/MONDO_0010031
skos:prefLabel - "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + + "ใ‘ใƒผใ‚ใ„ใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200650 +
http://nanbyodata.jp/ontology/NANDO_1200621 (rdf:type owl:Class @@ -50727,82 +59769,84 @@

hasNotificationNumber168hasNotificationNumber160
dcterms:identifier1200650NANDO:1200621
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Ehlers-Danlos syndrome, arthrochalasis type" + "KID็—‡ๅ€™็พค" + @ja
+ rdfs:label + "Keratitis-ichthyosis-deafness syndrome" @en
rdfs:label - "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2144http://nanbyodata.jp/ontology/NANDO_2200996
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200645http://nanbyodata.jp/ontology/NANDO_1200618
skos:altLabel - "Ehlers-Danlos Syndrome (Arthrochalasia type)" + "KID syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007525
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009159http://purl.obolibrary.org/obo/MONDO_0018781
skos:prefLabel - "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "KID็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200651 +
http://nanbyodata.jp/ontology/NANDO_1200622 (rdf:type owl:Class @@ -50810,77 +59854,99 @@

hasNotificationNumber168hasNotificationNumber160
dcterms:identifier1200651NANDO:1200622
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Ehlers-Danlos syndrome, dermatosparaxis type" + "Dorfman-Chanarin syndrome" @en
rdfs:label - "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใฉใ‚‹ใตใพใ‚“ใƒปใ—ใ‚ƒใชใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2146http://nanbyodata.jp/ontology/NANDO_2200997
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3139
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00736
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200645http://nanbyodata.jp/ontology/NANDO_1200618
skos:altLabel - "Ehlers-Danlos Syndrome (Dermatosparaxis type)" + "Chanarin-Dorfman Syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009161http://purl.obolibrary.org/obo/MONDO_0010155
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015611
skos:prefLabel - "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200652 +
http://nanbyodata.jp/ontology/NANDO_1200623 (rdf:type owl:Class @@ -50888,60 +59954,91 @@

hasNotificationNumber168hasNotificationNumber160
dcterms:identifier1200652NANDO:1200623
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-07-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome" + "Neutral lipid storage disease with ichthyosis" @en
rdfs:label - "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใกใ‚…ใ†ใ›ใ„ใ—ใผใ†ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3139
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200645http://nanbyodata.jp/ontology/NANDO_1200618
+ skos:altLabel + "NLSDI" + @en
+ skos:altLabel + "ichthyotic neutral lipid storage disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010155
skos:prefLabel - "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + - + + "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#1200653 +
http://nanbyodata.jp/ontology/NANDO_1200624 (rdf:type owl:Class @@ -50949,84 +60046,94 @@

hasNotificationNumber169
- dcterms:description - "ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฏใ€้Š…่ผธ้€ATPaseใฎ๏ผ‘ใคใงใ‚ใ‚‹ATP7A้บไผๅญ็•ฐๅธธใงใ€XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใฎใงใ€ๆ‚ฃ่€…ใฏๅŽŸๅ‰‡็”ทๅ…ใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใงใฎ้Š…่ผธ้€้šœๅฎณใฎใŸใ‚ใ€ๆ‘‚ๅ–ใ—ใŸ้Š…ใฏ่…ธ็ฒ˜่†œใซ่“„็ฉใ—ใ€ไฝ“ๅ†…ใซ่ผธ้€ใ•ใ‚Œใชใ„ใ€‚ใใฎ็ตๆžœใ€้‡็ฏคใช้Š…ๆฌ ไนใซใ‚ˆใ‚Šใ€้Š…้…ต็ด ๆดปๆ€งใŒไฝŽไธ‹ใ—ใ€้‡ๅบฆใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ€่ก€็ฎก็•ฐๅธธใƒป่†€่ƒฑๆ†ฉๅฎคใƒป้ชจ็ฒ—้ฌ†็—‡็ญ‰ใฎ็ตๅˆ็น”็•ฐๅธธใ€็‰นๅพด็š„้ ญ้ซช็•ฐๅธธใชใฉใŒๅ‡บ็พใ™ใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏๆฏไฝ“็”ฑๆฅใฎ้Š…ใŒๆถˆๅคฑใ™ใ‚‹็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ใ‹ๆœˆใ‹ใ‚‰ใฏ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใƒ’ใ‚นใƒใ‚ธใƒณ้Š…ใฎ็šฎไธ‹ๆณจๅฐ„ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆฒป็™‚้–‹ๅง‹ใŒ็ฅž็ตŒ็—‡็Šถๅ‡บ็พๅพŒใงใฏ็ฅž็ตŒ้šœๅฎณใซๅฏพใ—ใฆๅ…จใๅŠนๆžœใŒใชใ„ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200653NANDO:1200624
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/169-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Menkes' Disease" + "Multiple sulfatase deficiency" @en
rdfs:label - "ใƒกใƒณใ‚ฑใ‚น็—…" + "ใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3476http://nanbyodata.jp/ontology/NANDO_2200566
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157307.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4729https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00272
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200618
skos:altLabel - "Menkes disease" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010651http://purl.obolibrary.org/obo/MONDO_0010088
skos:prefLabel - "ใƒกใƒณใ‚ฑใ‚น็—…" + "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200654 +
http://nanbyodata.jp/ontology/NANDO_1200625 (rdf:type owl:Class @@ -51034,82 +60141,77 @@

hasNotificationNumber170
- dcterms:description - "ๆœฌ็—‡ใฏATP7A้บไผๅญ็•ฐๅธธ็—‡ใงใ€ๅŒใ˜้บไผๅญ็•ฐๅธธ็–พๆ‚ฃใงใ‚ใ‚‹ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฎๆฅต่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€ๆœฌ็—‡ใฎๅๅ‰ใฎ็”ฑๆฅใซใชใฃใฆใ„ใ‚‹ใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚‹็ตๅˆ็น”็•ฐๅธธใŒไธป็—‡็Šถใงใ€็šฎ่†š้Žไผธๅฑ•ใ€่ก€็ฎก็•ฐๅธธใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€่†€่ƒฑๆ†ฉๅฎคใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๅคšใใฏๅญฆ็ซฅๆœŸไปฅ้™ใ€็Ÿฅ่ƒฝ้šœๅฎณใฏ่ปฝๅบฆ๏ฝžๆญฃๅธธใงใ‘ใ„ใ‚Œใ‚“ใฏใชใ„ใ€้ ญ้ซช็•ฐๅธธใฏ่ฆ‹ใ‚‰ใ‚Œใชใ„ใชใฉใฎ็‚นใŒใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใจ็•ฐใชใ‚Šใ€็พๆ™‚็‚นใงใฏไธก่€…ใ‚’็ตฑไธ€็š„ใซๅ–ใ‚Šๆ‰ฑใ†็–พๆ‚ฃๆฆ‚ๅฟตใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚็พๅœจๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€็™บ็—‡ใฏๅŽŸๅ‰‡็”ทๆ€งใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200654NANDO:1200625
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/170-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Occipital horn syndrome" + "Recessive X-linked ichtyosis" @en
rdfs:label - "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" + "X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3389 + rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ‚Œใฃใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01859http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3447
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157152.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4555https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100003http://nanbyodata.jp/ontology/NANDO_1200618
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010572http://purl.obolibrary.org/obo/MONDO_0010622
skos:prefLabel - "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" + "X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + "IBID" + @ja - - - - + "ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature" + @en - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200655 +
http://nanbyodata.jp/ontology/NANDO_1200626 (rdf:type owl:Class @@ -51117,89 +60219,79 @@

hasNotificationNumber171
- dcterms:description - "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใง้บไผใ™ใ‚‹่ƒ†ๆฑไธญใธใฎ้Š…ๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง้Š…้Žๅ‰ฐ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200655NANDO:1200626
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/171-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Wilson's Disease" - @en
rdfs:label - "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3187
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00210 + rdfs:label + "ใ‚ใ„ใณใƒผใ‚ใ„ใงใƒใƒผ" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157141.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4543https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200618
skos:altLabel - "Wilson disease" + "IBID" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010200http://purl.obolibrary.org/obo/MONDO_0002470
skos:prefLabel - "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" + "IBID" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200656 +
http://nanbyodata.jp/ontology/NANDO_1200627 (rdf:type owl:Class @@ -51207,77 +60299,84 @@

hasNotificationNumber172
- dcterms:description - "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ใฏใ€้ชจใƒฌใƒณใƒˆใ‚ฒใƒณๆคœๆŸปใง้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ€่ก€ๆถฒๆคœๆŸปใง่ก€ๆธ…ใ‚ขใƒซใ‚ซใƒชใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰ๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ALPใฎๆดปๆ€งไฝŽไธ‹ใซใจใ‚‚ใชใ„่“„็ฉใ™ใ‚‹ใƒ”ใƒญใƒชใƒณ้…ธใŒ็Ÿณ็ฐๅŒ–ใ‚’้šœๅฎณใ™ใ‚‹ใ“ใจใ‚„ใ€ๅฑ€ๆ‰€ใฎใƒชใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ALPใฎๅŸบ่ณชใงใ‚ใ‚‹phosphoethanolamine, inorganic pyrophosphate๏ผˆใƒ”ใƒญใƒชใƒณ้…ธ๏ผ‰, pyridoxal 5'-phosphateใฎไธŠๆ˜‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใŒใ€็จ€ใซๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200656NANDO:1200627
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/172-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Hypophosphatasia" + "Trichothiodystrophy" @en
rdfs:label - "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" + "ใ„ใŠใ†ใ‘ใคใผใ†ใ›ใ„ใ‚‚ใ†ใฏใคใฏใคใ„ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00213https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00866
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157251.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4564https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1200618
+ skos:altLabel + "Trichothiodystrophy" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018570http://purl.obolibrary.org/obo/MONDO_0018053
skos:prefLabel - "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" + "็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200657 +
http://nanbyodata.jp/ontology/NANDO_1200628 (rdf:type owl:Class @@ -51285,84 +60384,77 @@

hasNotificationNumber173
- dcterms:description - "VATER็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ• ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200657NANDO:1200628
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/173-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "VATER syndrome" + "Ichthyosis Follicularis" @en
rdfs:label - "VATER็—‡ๅ€™็พค" + "ใ‚‚ใ†ใปใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1613https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00740
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157281.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4850https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014
- skos:altLabel - "VATER association" - @enhttp://nanbyodata.jp/ontology/NANDO_1200618
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008642http://purl.obolibrary.org/obo/MONDO_0043094
skos:prefLabel - "VATER็—‡ๅ€™็พค" + "ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200658 +
http://nanbyodata.jp/ontology/NANDO_1200629 (rdf:type owl:Class @@ -51370,77 +60462,94 @@

hasNotificationNumber174
- dcterms:description - "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…๏ผˆNasu-Hakola disease๏ผ‰ใฏใ€ๅคš็™บๆ€ง้ชจๅšข่ƒžใซใ‚ˆใ‚‹็—…็š„้ชจๆŠ˜ใจ็™ฝ่ณช่„ณ็—‡ใซใ‚ˆใ‚‹่‹ฅๅนดๆ€ง่ช็Ÿฅ็—‡ใ‚’ไธปๅพดใจใ—ใ€DAP12๏ผˆTYROBP๏ผ‰้บไผๅญๅˆใฏTREM2้บไผๅญใฎๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1970ๅนดไปฃใซใ€้‚ฃ้ ˆๆฏ…ๅšๅฃซใจHakolaๅšๅฃซใซใ‚ˆใ‚Š็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œใ€polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ๏ผˆPLOSL๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏๆœฌ้‚ฆใจๅŒ—ๆฌง๏ผˆใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰๏ผ‰ใซ้›†็ฉใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ‚ฃ่€…ๆ•ฐใฏ็ด„200ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200658NANDO:1200629
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/174-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Nasu-Hakola disease" + "CHILD syndrome" @en
rdfs:label - "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…" + "CHILD็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2075http://nanbyodata.jp/ontology/NANDO_2200998
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157256.docxhttp://nanbyodata.jp/ontology/NANDO_2201358
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4256http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3446
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200618
+ skos:altLabel + "Congenital hemidysplasia with ichthyosiform nevus and limb defects" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009092http://purl.obolibrary.org/obo/MONDO_0010621
skos:prefLabel - "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…" + "CHILD็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + - - - - - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200659 +
http://nanbyodata.jp/ontology/NANDO_1200630 (rdf:type owl:Class @@ -51448,82 +60557,79 @@

hasNotificationNumber175
- dcterms:description - "ใ‚ฆใ‚ฃใƒผใƒใƒผ๏ผˆWeaver๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€่ปฝๅบฆ๏ฝžไธญ็ญ‰ๅบฆใฎ็™บ้”ใฎ้…ใ‚Œใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใปใ‹ใซใ€ๅคง้ ญ็—‡ใ€ไฝŽใ„ๆณฃใๅฃฐใ€ๅฐ้กŽ็—‡ใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใ€ๆŒ‡ใƒปๅ››่‚ข้–ข็ฏ€ไผธๅฑ•ใƒปๆ‹˜็ธฎ๏ผŒไฝ™ๅ‰ฐ็šฎ่†šใ€็ดฐใ็ฒ—ใชๆฏ›้ซชใชใฉใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber160
dcterms:identifier1200659NANDO:1200630
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/175-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/160-201704-kojin.pdf
rdfs:label - "Weaver syndrome" + "Conradi Hรผnermann Happle syndrome" @en
rdfs:label - "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" + "Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3180
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01751 + rdfs:label + "ใ“ใ‚“ใ‚‰ใƒผใงใƒใฒใ‚…ใƒผใญใ‚‹ใพใ‚“ใฏใฃใทใ‚‹็—‡ๅ€™็พค" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157139.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157226.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4684https://www.nanbyou.or.jp/entry/139
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200618
+ skos:altLabel + "Conradi Hunermann Happle syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010193http://purl.obolibrary.org/obo/MONDO_0020603
skos:prefLabel - "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" + "Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200660 +
http://nanbyodata.jp/ontology/NANDO_1200631 (rdf:type owl:Class @@ -51531,82 +60637,110 @@

hasNotificationNumber176hasNotificationNumber161
dcterms:description - "็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฐ้ ญ็—‡ใ€ๅ…ˆ็ดฐใ‚ŠใฎๆŒ‡ใชใฉ้ชจๆ ผ็ณปใฎ็‰นๅพดใ‚’ๆœ‰ใ—ใ€้Ÿณใ‚„่งฆ่ฆšใชใฉใฎๆ€ฅใชๅˆบๆฟ€ใงๆ„่ญ˜ๆถˆๅคฑใ‚’ไผดใ‚ใชใ„่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก๏ผˆใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็šฎ่†š็–พๆ‚ฃใงใ€็”Ÿไธ‹ๆ™‚ใซใฏ็šฎ่†š็—…ๅค‰ใฏใชใ้’ๅฃฎๅนดๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…‹็ชฉใƒป้™ฐ่‚ก้ƒจใƒป้ ธ้ƒจใƒป่‚›ๅ›ฒใชใฉใฎ้–“ๆ“ฆ้ƒจใซๅฐๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ€็—‚็šฎใ‚’ๅฝขๆˆใ™ใ‚‹ใŒใ€ใ‚ˆใ‚Šๅบƒ็ฏ„ๅ›ฒใซ็šฎ่†š็—…ๅค‰ใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้€šๅธธใ€ไบˆๅพŒ่‰ฏๅฅฝใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅคๅญฃใซๆ‚ชๅŒ–ใ—ใ€็ดซๅค–็ทšๆ›้œฒใ‚„ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ€ไบŒๆฌกๆ„ŸๆŸ“ใŒๅข—ๆ‚ชๅ› ๅญใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏใ€่กจ็šฎๅŸบๅบ•ๅฑค็›ดไธŠใ‹ใ‚‰ไธŠๅฑคใฎๆฃ˜่ž่งฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏATP2C1ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200660NANDO:1200631
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/176-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/161-201704-kojin.pdf
rdfs:label - "Coffin-Lowry syndrome" + "Benign Familial Pemphigus" @en
rdfs:label - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" + "ใ‹ใžใใ›ใ„ใ‚Šใ‚‡ใ†ใ›ใ„ใพใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3376http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1198
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00574https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00844
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157199.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157157.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4666https://www.nanbyou.or.jp/entry/4489
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:altLabel + "Familial benign chronic pemphigus" + @en
+ skos:altLabel + "Hailey-Hailey disease" + @en
+ skos:altLabel + "ใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010561http://purl.obolibrary.org/obo/MONDO_0008218
skos:prefLabel - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" + "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200661 +
http://nanbyodata.jp/ontology/NANDO_1200632 (rdf:type owl:Class @@ -51614,89 +60748,86 @@

hasNotificationNumber177hasNotificationNumber162
dcterms:description - "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€1969ๅนดใซๅฐ่„ณ่™ซ้ƒจๆฌ ๆใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅคฑ่ชฟใ€็™บ้”ใฎ้…ใ‚Œใ€็œผ็ƒ้‹ๅ‹•็•ฐๅธธใชใฉใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็ถฒ่†œ็•ฐๅธธใ€่…Žๅšข่ƒžใ€่‚้šœๅฎณใ€ๅฃ่…”ๅ‘จๅ›ฒใ€ๆŒ‡๏ผˆ่ถพ๏ผ‰ใชใฉใฎๅน…ๅบƒใ„่‡จๅบŠ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ็–พๆ‚ฃ็พคใซใฏๆ”พๅฐ„็ทšๅญฆ็š„ใช่„ณๅนนใฎๅฝขๆˆ็•ฐๅธธ๏ผˆMTS: Molar Tooth Sign๏ผ‰ใ‚’ๅ…ฑ้€šใซๆœ‰ใ™ใ‚‹็‰นๅพดใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚ใใฎใŸใ‚ใ€ใ“ใฎใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใ‚’ๅซใ‚€ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใ‚’ใ€ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใจใใฎ้–ข้€ฃ็–พๆ‚ฃ๏ผˆJSRD๏ผ‰ใจๅ‘ผใถใ‚ˆใ†ใซใชใฃใŸใ€‚ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅŽŸๅ› ้บไผๅญใฎ้•ใ„ใ‹ใ‚‰28ไบœๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹๏ผˆJBTS1 (OMIM: 213300)ใ€œJBTS28๏ผˆOMIM: 617121๏ผ‰๏ผ‰ใ€‚ใใฎ่‡จๅบŠ็š„็‰นๅพดใฏใ€่„ณ็”ปๅƒใฎMTSใจใ€ๆง˜ใ€…ใช็จ‹ๅบฆใซ็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚JSRDใซใฏใ€ๆœ‰้ฆฌ็—‡ๅ€™็พค๏ผˆOMIM: 243910๏ผ‰ใ€ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค๏ผˆOMIM: 266900๏ผ‰ใ€COACH็—‡ๅ€™็พค๏ผˆOMIM: 216360๏ผ‰ใ€ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค๏ผˆOMIM: 258860๏ผ‰ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใงใฏใ€็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅˆไฝตใ—ใ€ๆˆไบบใงใฏใ€่…Žไธๅ…จใฎใŸใ‚่…Ž้€ๆžใชใ„ใ—่…Ž็งปๆคใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏ1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž๏ผˆใƒใƒ•ใƒญใƒณ็™†๏ผ‰ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€่…Ž้€ๆžใชใฉใ‚’่กŒใ‚ใชใ„ใจๅฐๅ…ๆœŸใพใงใซๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พคใงใฏใ€Leberๅ…ˆๅคฉ็›ฒใ€็ถฒ่†œๅค‰ๆ€ง็—‡ใ€ใƒใƒ•ใƒญใƒณ็™†ใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸใ‚ˆใ‚Šๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่ฆ–่ฆš้šœๅฎณ๏ผˆๅคฑๆ˜Žใ‚’ๅซใ‚€ใ€‚๏ผ‰ใจ่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚COACH็—‡ๅ€™็พคใงใฏใ€็ฒพ็ฅž้…ๆปžใ€ๅฐ่„ณๅคฑ่ชฟใ€่„ˆ็ตก่†œๆฌ ๆใ€่‚็ทš็ถญ็—‡ใ‚’ๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่‚็ทš็ถญ็—‡ใซใ‚ˆใ‚‹้™่„ˆ็˜คใฎๅ‡บ่ก€ใ‚„่‚ไธๅ…จใ€่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใงใฏใ€ๅฃ่“‹่ฃ‚ใชใฉใฎๅฃ่…”็•ฐๅธธใ€้ก”้ขใจๆŒ‡๏ผˆ่ถพ๏ผ‰ๅฅ‡ๅฝขใ€ๅบƒ็ฏ„ใช่„ณๅฝขๆˆ็•ฐๅธธ๏ผˆๅ…จๅ‰่„ณ่ƒž็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚„ไธ‹ๅž‚ไฝ“ใฎ็•ฐๅฝขๆˆ๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๆˆไบบใงใฏ็Ÿฅ็š„้šœๅฎณใซ่ตทๅ› ใ™ใ‚‹็”Ÿๆดปๆ”ฏๆดใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใฎไธ€้ƒจใฏXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ไป–ใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่กจ็šฎๅŸบๅบ•่†œๆง‹ๆˆใ‚ฟใƒณใƒ‘ใ‚ฏใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆIgG๏ผ‰ใซใ‚ˆใฃใฆใ€่กจ็šฎไธ‹ๆฐด็–ฑใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑ็—‡ใ€‚ๅ…จ่บซใฎ็šฎ่†šๅŠใณ็ฒ˜่†œใซใ€ๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹ใ€‚้กžๅคฉ็–ฑ็˜กใซใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็šฎ่†šใซ็—‡็Šถ๏ผ‰ใจ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็ฒ˜่†œใซ็—‡็Šถ๏ผ‰ใฎไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜กใจ่‡จๅบŠ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€็—…็†ๅญฆ็š„ๆ‰€่ฆ‹ใ€่›ๅ…‰ๆŠ—ไฝ“ๆณ•ๆ‰€่ฆ‹ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€็พๆ™‚็‚นใงใฏๅŒไธ€ใฎ็–พ็—…ใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" @ja
dcterms:identifier1200661NANDO:1200632
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/177-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdf
rdfs:label - "Joubert Syndrome and related disorders" + "Pemphigoid (including Epidermolysis bullosa acquisita)" @en
rdfs:label - "ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ" + "ใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira
+ rdfs:label + "้กžๅคฉ็–ฑ็˜ก" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2471https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01650
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198077.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4552https://www.nanbyou.or.jp/entry/4525
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100003
skos:altLabel - "Cerebro-oculo-hepato-renal syndrome" + "Pemphigoid" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009480
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015369
skos:prefLabel - "ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ" + "้กžๅคฉ็–ฑ็˜ก" @ja
- - + - - + + - + - + - - - - + "ใ™ใ„ใปใ†ใ›ใ„ใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200662 +
http://nanbyodata.jp/ontology/NANDO_1200633 (rdf:type owl:Class @@ -51704,75 +60835,72 @@

hasNotificationNumber177hasNotificationNumber162
dcterms:identifier1200662NANDO:1200633
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/177-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdf
rdfs:label - "Arima syndrome" + "bullous pemphigoid" @en
rdfs:label - "ๆœ‰้ฆฌ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2471
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01811 + rdfs:label + "ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198077.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4552https://www.nanbyou.or.jp/entry/4525
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200661http://nanbyodata.jp/ontology/NANDO_1200632
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009480http://purl.obolibrary.org/obo/MONDO_0019082
skos:prefLabel - "ๆœ‰้ฆฌ็—‡ๅ€™็พค" + "ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก" @ja
- - + - - - - - - + + - + - + + "ใญใ‚“ใพใใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200663 +
http://nanbyodata.jp/ontology/NANDO_1200634 (rdf:type owl:Class @@ -51780,77 +60908,72 @@

hasNotificationNumber178
- dcterms:description - "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber162
dcterms:identifier1200663NANDO:1200634
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/178-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdf
rdfs:label - "Mowat Wilson Syndrome" + "mucous membrane pemphigoid" @en
rdfs:label - "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2328 + rdfs:label + "็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157308.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4594https://www.nanbyou.or.jp/entry/4525
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200632
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009341http://purl.obolibrary.org/obo/MONDO_0018746
skos:prefLabel - "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" + "็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก" @ja
- - + - - - - - - + + - + - + - - - - + "ใ“ใ†ใฆใ‚“ใ›ใ„ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200664 +
http://nanbyodata.jp/ontology/NANDO_1200635 (rdf:type owl:Class @@ -51858,82 +60981,72 @@

hasNotificationNumber179
- dcterms:description - "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ๏ผˆWilliams๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ๅŠใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒใ€้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—ใ€็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„ใ€็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber162
dcterms:identifier1200664NANDO:1200635
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/179-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/162-201704-kojin.pdf
rdfs:label - "Williams syndrome" + "Epidermolysis bullosa acquisita" @en
rdfs:label - "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1648
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01439 + rdfs:label + "ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157140.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157317.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4765https://www.nanbyou.or.jp/entry/4526
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200632
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008678http://purl.obolibrary.org/obo/MONDO_0018747
skos:prefLabel - "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" + "ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - - + +
http://nanbyodata.jp/ontology/nando#1200665 +
http://nanbyodata.jp/ontology/NANDO_1200636 (rdf:type owl:Class @@ -51941,89 +61054,93 @@

hasNotificationNumber180hasNotificationNumber163
dcterms:description - "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พคใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พคใฎไธ€ใคใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข๏ผˆHbH็—…๏ผ‰ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + "็™บๆฑ—ใ‚’ไฟƒใ™็’ฐๅขƒไธ‹๏ผˆ้ซ˜ๆธฉใ€ๅคšๆนฟ๏ผ‰ใซใŠใ„ใฆใ‚‚ใ€็™บๆฑ—ใŒใฟใ‚‰ใ‚Œใชใ„็–พๆ‚ฃใ‚’็„กๆฑ—็—‡ใจใ„ใ†ใ€‚ใพใ‚Œใช็–พๆ‚ฃใง็™บ็—‡็Ž‡ใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใ€‚็„กๆฑ—ใฎใŸใ‚ใ€็šฎ่†šใฏไนพ็‡ฅใ—ใ€ๆ™‚ใซใฏใ‚ณใƒชใƒณๆ€ง่•้บป็–นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€้ซ˜ๆธฉใฎ็’ฐๅขƒไธ‹ใซใŠใ„ใฆไฝ“ๆธฉ่ชฟ็ฏ€ใŒใงใใš็†ฑไธญ็—‡ใ‚’ๅฎนๆ˜“ใซ็™บ็—‡ใ—็™บ็†ฑใ€่„ฑๅŠ›ๆ„Ÿใ€็–ฒๅŠดๆ„Ÿใ€ใ‚ใพใ„ใ€ๅ‹•ๆ‚ธใ•ใ‚‰ใซใฏๆ„่ญ˜้šœๅฎณใชใฉ้‡็ฏคใช็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅคใซใฏๅค–ๅ‡บใงใใชใใชใ‚‹ใชใฉใฎ็”Ÿๆดปใฎๅˆถ้™ใŒใ‚ใ‚ŠQOLใŒ่‘—ใ—ใๆใชใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†้กžใ•ใ‚Œๅ…ˆๅคฉๆ€ง็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใ€ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฎๅŽŸๅ› ใฏใ‚จใ‚ฏใƒชใƒณๆฑ—่…บใฎ็•ฐๅธธใ€ไบคๆ„Ÿ็ฅž็ตŒใฎ็•ฐๅธธใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใฎ็™บๆฑ—้šœๅฎณใจๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซใ€็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใชใๆฒป็™‚ใซ่‹ฆๆ…ฎใ™ใ‚‹็–พๆ‚ฃใงใ‚ใฃใŸใ€‚็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏใ€็‰น็™บๆ€งๅˆ†็ฏ€ๅž‹็„กๆฑ—็—‡ใจidiopathic pure sudomtor fairlure๏ผˆIPSF๏ผ‰ใชใฉใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใใฎ็—…ๆ…‹ใฏๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier1200665NANDO:1200636
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/180-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/163-201704-kojin.pdf
rdfs:label - "ATR-X syndrome" + "Acquired Idiopathic Generalized Anhidrosis" @en
rdfs:label - "๏ผก๏ผด๏ผฒโˆ’๏ผธ็—‡ๅ€™็พค" + "ใจใใฏใคใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3332https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01848
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157145.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157253.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4432https://www.nanbyou.or.jp/entry/4390
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100003
skos:altLabel - "Alpha-thalassemia mental retardation syndrome" + "Idiopathic acquired systemic anhidrosis" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007716
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010519 + skos:altLabel + "Idiopathic pure sudomotor failure" + @en
skos:prefLabel - "๏ผก๏ผด๏ผฒโˆ’๏ผธ็—‡ๅ€™็พค" + "็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200666 +
http://nanbyodata.jp/ontology/NANDO_1200637 (rdf:type owl:Class @@ -52031,82 +61148,89 @@

hasNotificationNumber181hasNotificationNumber164
dcterms:description - "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" + "ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซใฎ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใ€้’ใ‹ใ‚‰็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€่ฆ–ๅŠ›้šœๅฎณใ€็™ฝใ‹ใ‚‰่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200666NANDO:1200637
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/181-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdf
rdfs:label - "Crouzon's Syndrome" + "Oculocutaneous albinism" @en
rdfs:label - "ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค" + "ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็œผ็šฎ่†š็™ฝ็šฎ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=374http://nanbyodata.jp/ontology/NANDO_2200986
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01754https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00168
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157178.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4672https://www.nanbyou.or.jp/entry/4492
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100011
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007405http://purl.obolibrary.org/obo/MONDO_0018910
skos:prefLabel - "ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค" + "็œผ็šฎ่†š็™ฝ็šฎ็—‡" @ja
- - + - - - - - - + + - + - + + "ใธใ‚‹ใพใ‚“ใ™ใใƒผใƒปใฑใฉใ‚‰ใฃใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200667 +
http://nanbyodata.jp/ontology/NANDO_1200638 (rdf:type owl:Class @@ -52114,87 +61238,77 @@

hasNotificationNumber182
- dcterms:description - "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber164
dcterms:identifier1200667NANDO:1200638
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/182-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdf
rdfs:label - "Apert syndrome" + "Hermansky-Pudlak syndrome" @en
rdfs:label - "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=12 + rdfs:label + "ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01755https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00166
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157116.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4678https://www.nanbyou.or.jp/entry/4492
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007041http://nanbyodata.jp/ontology/NANDO_1200637
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019796http://purl.obolibrary.org/obo/MONDO_0019312
skos:prefLabel - "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค" + "ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200668 +
http://nanbyodata.jp/ontology/NANDO_1200639 (rdf:type owl:Class @@ -52202,87 +61316,94 @@

hasNotificationNumber183
- dcterms:description - "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber164
dcterms:identifier1200668NANDO:1200639
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/183-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdf
rdfs:label - "Pfeiffer syndrome" + "Chรฉdiak-Higashi syndrome" @en
rdfs:label - "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" + "ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=14http://nanbyodata.jp/ontology/NANDO_1200350
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01756http://nanbyodata.jp/ontology/NANDO_2200724
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157278.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1940
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4675https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4493
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200637
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005810 + skos:altLabel + "CHS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007043http://purl.obolibrary.org/obo/MONDO_0008963
skos:prefLabel - "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" + "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + "ใใ‚Šใ›ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200669 +
http://nanbyodata.jp/ontology/NANDO_1200640 (rdf:type owl:Class @@ -52290,89 +61411,77 @@

hasNotificationNumber184
- dcterms:description - "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber164
dcterms:identifier1200669NANDO:1200640
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/184-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdf
rdfs:label - "Antley-Bixler syndrome" + "Griscelli syndrome" @en
rdfs:label - "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1773 + rdfs:label + "ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01753https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02022
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157123.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4669https://www.nanbyou.or.jp/entry/4492
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014
- skos:altLabel - "Antley-Bixler Syndrome Phenotype" - @enhttp://nanbyodata.jp/ontology/NANDO_1200637
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008803http://purl.obolibrary.org/obo/MONDO_0018306
skos:prefLabel - "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" + "ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - - - - - - - - - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200670 +
http://nanbyodata.jp/ontology/NANDO_1200641 (rdf:type owl:Class @@ -52380,87 +61489,79 @@

hasNotificationNumber185
- dcterms:description - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber164
dcterms:identifier1200670NANDO:1200641
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/185-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/164-201704-kojin.pdf
rdfs:label - "Coffin-Siris Syndrome" + "non-syndromic oculocutaneous albinism" @en
rdfs:label - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" + "ใฒใ—ใ‚‡ใ†ใ“ใ†ใŒใŸใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=606
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01403
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157198.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157167.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4762https://www.nanbyou.or.jp/entry/4492
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200637
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007617 + skos:altLabel + "้ž็—‡ๅ€™ๆ€ง็œผ็šฎ่†š็™ฝ็šฎ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015452http://purl.obolibrary.org/obo/MONDO_0018910
skos:prefLabel - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" + "้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200671 +
http://nanbyodata.jp/ontology/NANDO_1200642 (rdf:type owl:Class @@ -52468,77 +61569,89 @@

hasNotificationNumber186hasNotificationNumber165
dcterms:description - "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พคใฏใ€ๅฐๆŸ„ใชไฝ“ๅž‹ใ€ๆ—ฅๅ…‰้Žๆ•ๆ€ง็ด…ๆ–‘ใ€ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ใ€้ชจๆ ผ็•ฐๅธธใ€่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผ็—…ใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พคใ€ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พคใŒใ‚ใ‚‹ใŒใ€ๅŒใ˜้บไผๅญๅบงใซ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰็พๆ™‚็‚นใงใฏๅฝ“่ฉฒ็–พๆ‚ฃใซๅซใ‚ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" + "ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽšๆ€งๅค‰ๅŒ–๏ผˆ้ ญ้ƒจ่„ณๅ›ž่ปข็Šถ็šฎ่†šใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1868ๅนดใ€FriedreichใŒ๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ใใฎๅพŒใ€็จฎใ€…ใฎๅ็งฐใงๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸๅฝ“่ฉฒ็–พๆ‚ฃใฏ1935ๅนดTouraineใ‚‰ใซใ‚ˆใฃใฆ่‡จๅบŠไบœๅž‹ใ‚’็”จใ„ใŸๆœฌ็—‡ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚" @ja
dcterms:identifier1200671NANDO:1200642
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/186-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/165-201704-kojin.pdf
rdfs:label - "Rothmund-Thomson syndrome" + "Pachydermoperiostosis" @en
rdfs:label - "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01734http://nanbyodata.jp/ontology/NANDO_2201004
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157322.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157270.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4471https://www.nanbyou.or.jp/entry/4603
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010002http://purl.obolibrary.org/obo/MONDO_0009799
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016620
skos:prefLabel - "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค" + "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" @ja
- - + - - + + - + - + + "ใ ใ‚“ใ›ใ„ใ›ใ‚“ใ„ใ›ใ„ใ‹ใ›ใ„ใŠใ†ใ—ใ‚‡ใใ—ใ‚…" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200672 +
http://nanbyodata.jp/ontology/NANDO_1200643 (rdf:type owl:Class @@ -52546,87 +61659,84 @@

hasNotificationNumber187hasNotificationNumber166
dcterms:description - "1981ๅนดใซๆˆ‘ใŒๅ›ฝใง่ฆ‹ใ„ใ ใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๆญŒ่ˆžไผŽ็—‡ๅ€™็พคใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚Šใ€ๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000็จ‹ๅบฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๅญค็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใ‚ใฆๅฐ‘ๆ•ฐใงใ‚ใ‚‹ใ€‚" + "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ๏ผˆPXE๏ผ‰ใฏใ€ๅผพๆ€ง็ทš็ถญใซๅค‰ๆ€งใƒป็Ÿณ็ฐๅŒ–ใŒ็”Ÿใ˜็ต„็น”้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใใฎใŸใ‚็šฎ่†šใ€็œผใ€ๅฟƒใƒป่ก€็ฎกใ€ๆถˆๅŒ–็ฎกใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200672NANDO:1200643
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/187-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/166-201704-kojin.pdf
rdfs:label - "Kabuki syndrome" + "Pseudoxanthoma elasticum" @en
rdfs:label - "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=833 + rdfs:label + "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00570https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00560
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157160.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157247.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4663https://www.nanbyou.or.jp/entry/4579
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007843http://nanbyodata.jp/ontology/NANDO_1100003
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016512http://purl.obolibrary.org/obo/MONDO_0024308
skos:prefLabel - "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" + "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200673 +
http://nanbyodata.jp/ontology/NANDO_1200644 (rdf:type owl:Class @@ -52634,82 +61744,99 @@

hasNotificationNumber188hasNotificationNumber167
dcterms:description - "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚" + "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใ™ใ€‚" @ja
dcterms:identifier1200673NANDO:1200644
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/188-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/167-201704-kojin.pdf
rdfs:label - "Polysplenia syndrome" + "Marfan syndrome" @en
rdfs:label - "ๅคš่„พ็—‡ๅ€™็พค" + "ใพใ‚‹ใตใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1803http://nanbyodata.jp/ontology/NANDO_2200968
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01764http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6681
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157242.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=942
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5335https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157297.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4792
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100003
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008832http://purl.obolibrary.org/obo/MONDO_0007947
skos:prefLabel - "ๅคš่„พ็—‡ๅ€™็พค" + "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - - + + + "ใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200674 +
http://nanbyodata.jp/ontology/NANDO_1200645 (rdf:type owl:Class @@ -52717,77 +61844,96 @@

hasNotificationNumber189hasNotificationNumber168
dcterms:description - "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚" + "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค๏ผˆEhlers-Danlos syndrome๏ผšEDS๏ผ‰ใฏใ€็šฎ่†šใ€้–ข็ฏ€ใ€่ก€็ฎกใชใฉๅ…จ่บซ็š„ใช็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใซๅŸบใฅใ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅŽŸๅ› ใจ็—‡็Šถใ‹ใ‚‰ใ€๏ผ–ใคใฎไธป็—…ๅž‹๏ผˆๅคๅ…ธๅž‹ใ€้–ข็ฏ€ๅž‹ใ€่ก€็ฎกๅž‹ใ€ๅพŒๅดๅฝŽๅž‹ใ€ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ€็šฎ่†š่„†ๅผฑๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ…จ็—…ๅž‹ใ‚’ๅˆใ‚ใ›ใŸๆŽจๅฎš้ ปๅบฆใฏ็ด„๏ผ‘/5,000ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆœ€่ฟ‘ใ€้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญ็ ”็ฉถ็ญใซใŠใ„ใฆ่ฆ‹ๅ‡บใ—ใ€็–พๆ‚ฃๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸใ€ŒD4ST1ๆฌ ๆใซๅŸบใฅใEDS๏ผˆDDEDS๏ผ‰ใ€ใ‚’ๅซใ‚ใ€ๆ–ฐใŸใช็—…ๅž‹ใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200674NANDO:1200645
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/189-201704-kojin.pdf + rdfs:label + "Ehlers-Danlos Syndrome" + @en
rdfs:label - "Asplenia syndrome" - @en
rdfs:label - "็„ก่„พ็—‡ๅ€™็พค" + "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1803http://nanbyodata.jp/ontology/NANDO_2200607
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157302.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00802
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5341https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02239
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100003
+ skos:altLabel + "EDS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008832http://purl.obolibrary.org/obo/MONDO_0020066
skos:prefLabel - "็„ก่„พ็—‡ๅ€™็พค" + "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200675 +
http://nanbyodata.jp/ontology/NANDO_1200646 (rdf:type owl:Class @@ -52795,84 +61941,89 @@

hasNotificationNumber190
- dcterms:description - "้ฐ“่€ณ่…Ž๏ผˆBranchio-oto-renal๏ผšBOR๏ผ‰็—‡ๅ€™็พคใฏใ€้ ธ็˜ปใƒป่€ณ็˜ปๅญ”ใƒปๅค–่€ณๅฅ‡ๅฝขใชใฉใฎ้ฐ“ๅŽŸๆ€งๅฅ‡ๅฝขใ€ๆง˜ใ€…ใชใ‚ฟใ‚คใƒ—ใฎ้›ฃ่ดใ€่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ™‚ใซ้ก”้ข็ฅž็ตŒ้บป็—บใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใŒใ€ไธ€่ˆฌใซ็Ÿฅ็š„็™บ้”ใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ้›ฃ่ดใธใฎๆ—ฉๆœŸไป‹ๅ…ฅใŒๆ‚ฃ่€…ใฎ่จ€่ชž็™บ้”ใ‚’ๆ”นๅ–„ใ—ใ€ใพใŸ่…Ž็—‡็Šถใฎ้‡็—‡ๅบฆใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹ใ€‚" - @jahasNotificationNumber168
dcterms:identifier1200675NANDO:1200646
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/190-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-01-201704-kojin.pdf
rdfs:label - "Branchio-oto-renal syndrome" + "Ehlers-Danlos syndrome, classical type" @en
rdfs:label - "้ฐ“่€ณ่…Ž็—‡ๅ€™็พค" + "ใ“ใฆใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157200.docxhttp://nanbyodata.jp/ontology/NANDO_2201256
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4387http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=509
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100012http://nanbyodata.jp/ontology/NANDO_1200645
skos:altLabel - "BOR syndrome" + "classical EDS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007029
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018878http://purl.obolibrary.org/obo/MONDO_0007522
skos:prefLabel - "้ฐ“่€ณ่…Ž็—‡ๅ€™็พค" + "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200676 +
http://nanbyodata.jp/ontology/NANDO_1200647 (rdf:type owl:Class @@ -52880,82 +62031,89 @@

hasNotificationNumber191
- dcterms:description - "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚งใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅพดๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค๏ผˆWerner syndrome๏ผ‰ใฏ็™ฝๅ†…้šœใ‚„็™ฝๆฏ›ใ€่„ฑๆฏ›ใชใฉใ€ๅฎŸๅนด้ฝขใซๆฏ”ในใฆใ€Œ่€ๅŒ–ใŒไฟƒ้€ฒใ•ใ‚ŒใŸใ€ใ‚ˆใ†ใซ่ฆ‹ใˆใ‚‹่ซธ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‹ใ‚‰โ€œๆ—ฉ่€็—‡โ€ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ใŒใ‚“ใ‚„ๅ‹•่„ˆ็กฌๅŒ–ใฎใŸใ‚40ๆญณๅŠใฐใงๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ€ๆ—ฅๆœฌใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ็ด„2,000ๅใงใ‚ใ‚Šใ€ไธ–็•Œใฎๅ ฑๅ‘Šใฎ๏ผ–ๅ‰ฒใŒๆ—ฅๆœฌไบบใงใ‚ใ‚Šๆˆ‘ใŒๅ›ฝใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒ1994ๅนดใซๅŒๅฎšใ•ใ‚ŒใŸใŒใ€ๆ—ฉ่€ๆฉŸๅบใฏๆœช่งฃๆ˜Žใ€ๆ นๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚Šใ€ๅคšใใฎๆ‚ฃ่€…ใŒใ€้›ฃๆฒปๆ€ง็šฎ่†šๆฝฐ็˜ใซไผดใ†ไธ‹่‚ขๅˆ‡ๆ–ญใ‚„ๆ‚ชๆ€ง่…ซ็˜ใ€็ณ–ๅฐฟ็—…ใฎใŸใ‚ใ€็”Ÿๅ‘ฝใฎๅฑๆฉŸๅˆใฏๆญปใ‚’ๅ…ใ‚Œใฆใ‚‚้‡็ฏคใชๅพŒ้บ็—‡ใซ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚" - @jahasNotificationNumber168
dcterms:identifier1200676NANDO:1200647
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/191-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-02-201704-kojin.pdf
rdfs:label - "Werner syndrome" + "Ehlers-Danlos syndrome, hypermobility type" @en
rdfs:label - "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" + "ใ‹ใ‚“ใ›ใคใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3183http://nanbyodata.jp/ontology/NANDO_2201257
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01733http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=511
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157143.dochttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5320https://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200645
+ skos:altLabel + "Hypermobile EDS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010196http://purl.obolibrary.org/obo/MONDO_0007523
skos:prefLabel - "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" + "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200677 +
http://nanbyodata.jp/ontology/NANDO_1200648 (rdf:type owl:Class @@ -52963,77 +62121,84 @@

hasNotificationNumber192
- dcterms:description - "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค๏ผˆCockayne syndrome๏ผšCS๏ผ‰ใฏ็ดซๅค–็ทšๆ€งDNAๆๅ‚ทใฎไฟฎๅพฉใ‚ทใ‚นใƒ†ใƒ ใ€็‰นใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰้™คๅŽปไฟฎๅพฉใซใŠใ‘ใ‚‹่ปขๅ†™ๅ…ฑ็›Šไฟฎๅพฉ๏ผˆ่ปขๅ†™้ ˜ๅŸŸใฎDNAๆๅ‚ทใฎๅ„ชๅ…ˆ็š„ใชไฟฎๅพฉ๏ผ‰ใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆ—ฉ่€็—‡ใงใ‚ใ‚‹ใ€‚1936ๅนดใซใ‚คใ‚ฎใƒชใ‚นใฎๅฐๅ…็ง‘ๅŒป Cockayneใซใ‚ˆใ‚Šใ€Œ่ฆ–็ฅž็ตŒใฎ่Ž็ธฎใจ้›ฃ่ดใ‚’ไผดใ„็™บ่‚ฒใŒ่‘—ๆ˜ŽใซไฝŽไธ‹ใ—ใŸ็—‡ไพ‹ใ€ใจใ—ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ๆ—ฅๅ…‰้Žๆ•็—‡ใ€็‰น็•ฐใช่€ไบบๆง˜้ก”่ฒŒใ€็šฎไธ‹่„‚่‚ชใฎ่Ž็ธฎใ€ไฝŽ่บซ้•ทใ€่‘—ๆ˜Žใชๆ „้คŠ้šœๅฎณใ€่ฆ–ๅŠ›้šœๅฎณใ€้›ฃ่ดใชใฉใ‚‚ไผดใ†็จ€ใช็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚CSใฎๆœฌ้‚ฆใงใฎ็™บ็—‡้ ปๅบฆใฏ2.7/100ไธ‡ไบบใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber168
dcterms:identifier1200677NANDO:1200648
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/192-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-03-201704-kojin.pdf
rdfs:label - "Cockayne syndrome" + "Ehlers-Danlos syndrome, vascular type" @en
rdfs:label - "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" + "ใ‘ใฃใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00076http://nanbyodata.jp/ontology/NANDO_2201258
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157960.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4435https://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200645
+ skos:altLabel + "Vascular EDS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016006http://purl.obolibrary.org/obo/MONDO_0017314
skos:prefLabel - "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" + "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200678 +
http://nanbyodata.jp/ontology/NANDO_1200649 (rdf:type owl:Class @@ -53041,77 +62206,94 @@

hasNotificationNumber193
- dcterms:description - "1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚ฃใƒชใŒๅˆๅŒใง็™บ่กจใ—ใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚15็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ็•ฐๅธธใซใ‚ˆใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใ€ๆบ€่…นไธญๆžขใ‚’ใฏใ˜ใ‚ไฝ“ๆธฉใ€ๅ‘ผๅธไธญๆžขใชใฉใฎ็•ฐๅธธใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚้ ปๅบฆใฏใ€๏ผ‘ไธ‡ไบบใ‹ใ‚‰๏ผ‘ไธ‡๏ผ•ๅƒไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ไบบ็จฎๅทฎใฏใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber168
dcterms:identifier1200678NANDO:1200649
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/193-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-04-201704-kojin.pdf
rdfs:label - "Prader-Willi syndrome" + "Ehlers-Danlos syndrome, kyphoscoliotic type" @en
rdfs:label - "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" + "ใ“ใ†ใใใ‚ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1273http://nanbyodata.jp/ontology/NANDO_2201259
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157286.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2145
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4768https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200645
+ skos:altLabel + "Kyphoscoliosis EDS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008300http://purl.obolibrary.org/obo/MONDO_0016002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0034024
skos:prefLabel - "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" + "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200679 +
http://nanbyodata.jp/ontology/NANDO_1200650 (rdf:type owl:Class @@ -53119,87 +62301,89 @@

hasNotificationNumber194
- dcterms:description - "ใ‚ฝใƒˆใ‚น๏ผˆSotos๏ผ‰็—‡ๅ€™็พคใฏใ€NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅฝŽใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚" - @jahasNotificationNumber168
dcterms:identifier1200679NANDO:1200650
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/194-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-05-201704-kojin.pdf
rdfs:label - "Sotos syndrome" + "Ehlers-Danlos syndrome, arthrochalasis type" @en
rdfs:label - "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" + "ใŸใฏใคใ‹ใ‚“ใ›ใคใ—ใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=267http://nanbyodata.jp/ontology/NANDO_2201260
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00718http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=513
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157238.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4777https://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200645
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007299 + skos:altLabel + "Arthrochalasia EDS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019349http://purl.obolibrary.org/obo/MONDO_0007525
skos:prefLabel - "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" + "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200680 +
http://nanbyodata.jp/ontology/NANDO_1200651 (rdf:type owl:Class @@ -53207,87 +62391,89 @@

hasNotificationNumber195
- dcterms:description - "ใƒŒใƒผใƒŠใƒณ๏ผˆNoonan๏ผ‰็—‡ๅ€™็พคใฏใ€็ดฐ่ƒžๅ†…ใฎRas/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€ไฝŽ่บซ้•ทใ€่ƒธ้ƒญ็•ฐๅธธใ€ๅœ็•™็ฒพๅทฃใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber168
dcterms:identifier1200680NANDO:1200651
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/195-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-06-201704-kojin.pdf
rdfs:label - "Noonan syndrome" + "Ehlers-Danlos syndrome, dermatosparaxis type" @en
rdfs:label - "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" + "ใฒใตใœใ„ใ˜ใ‚ƒใใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1093http://nanbyodata.jp/ontology/NANDO_2201261
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01738http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2146
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157262.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4865https://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200645
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008104 + skos:altLabel + "Dermatosparaxis EDS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018997http://purl.obolibrary.org/obo/MONDO_0009161
skos:prefLabel - "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" + "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + "ใงใ‚‹ใพใŸใ‚“4ใŠใƒผใ‚Šใ‚…ใ†ใ•ใ‚“ใใฆใ‚“ใ„ใ“ใ†ใ1ใ‘ใฃใใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200681 +
http://nanbyodata.jp/ontology/NANDO_1200652 (rdf:type owl:Class @@ -53295,87 +62481,77 @@

hasNotificationNumber196
- dcterms:description - "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber168
dcterms:identifier1200681NANDO:1200652
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/196-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/168-07-201704-kojin.pdf
rdfs:label - "Young-Simpson syndrome" + "Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome" @en
rdfs:label - "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4182 + rdfs:label + "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01793http://nanbyodata.jp/ontology/NANDO_2201262
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157309.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157146.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4759https://www.nanbyou.or.jp/entry/4801
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011365http://nanbyodata.jp/ontology/NANDO_1200645
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017393http://purl.obolibrary.org/obo/MONDO_0011142
skos:prefLabel - "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200682 +
http://nanbyodata.jp/ontology/NANDO_1200653 (rdf:type owl:Class @@ -53383,77 +62559,89 @@

hasNotificationNumber197hasNotificationNumber169
dcterms:description - "๏ผ‘็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆœซ็ซฏ1p36้ ˜ๅŸŸใฎๆฌ ๅคฑใซใ‚ˆใฃใฆใŠใ“ใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆˆ้•ท้šœๅฎณใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”้…ๆปžใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใชใฉใฎ็—‡็Šถใ‚’ๆฅใŸใ™ใ€‚" + "ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฏใ€้Š…่ผธ้€ATPaseใฎ๏ผ‘ใคใงใ‚ใ‚‹ATP7A้บไผๅญ็•ฐๅธธใงใ€XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใฎใงใ€ๆ‚ฃ่€…ใฏๅŽŸๅ‰‡็”ทๅ…ใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใงใฎ้Š…่ผธ้€้šœๅฎณใฎใŸใ‚ใ€ๆ‘‚ๅ–ใ—ใŸ้Š…ใฏ่…ธ็ฒ˜่†œใซ่“„็ฉใ—ใ€ไฝ“ๅ†…ใซ่ผธ้€ใ•ใ‚Œใชใ„ใ€‚ใใฎ็ตๆžœใ€้‡็ฏคใช้Š…ๆฌ ไนใซใ‚ˆใ‚Šใ€้Š…้…ต็ด ๆดปๆ€งใŒไฝŽไธ‹ใ—ใ€้‡ๅบฆใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ€่ก€็ฎก็•ฐๅธธใƒป่†€่ƒฑๆ†ฉๅฎคใƒป้ชจ็ฒ—้ฌ†็—‡็ญ‰ใฎ็ตๅˆ็น”็•ฐๅธธใ€็‰นๅพด็š„้ ญ้ซช็•ฐๅธธใชใฉใŒๅ‡บ็พใ™ใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏๆฏไฝ“็”ฑๆฅใฎ้Š…ใŒๆถˆๅคฑใ™ใ‚‹็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ใ‹ๆœˆใ‹ใ‚‰ใฏ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใƒ’ใ‚นใƒใ‚ธใƒณ้Š…ใฎ็šฎไธ‹ๆณจๅฐ„ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆฒป็™‚้–‹ๅง‹ใŒ็ฅž็ตŒ็—‡็Šถๅ‡บ็พๅพŒใงใฏ็ฅž็ตŒ้šœๅฎณใซๅฏพใ—ใฆๅ…จใๅŠนๆžœใŒใชใ„ใ€‚" @ja
dcterms:identifier1200682NANDO:1200653
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/197-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/169-201704-kojin.pdf
rdfs:label - "1p36 deletion syndrome" + "Menkes disease" @en
rdfs:label - "๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใ‚ใ‚“ใ‘ใ™ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒณใ‚ฑใ‚น็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4671http://nanbyodata.jp/ontology/NANDO_2200580
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157128.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3476
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4495https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157307.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4729
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011929http://purl.obolibrary.org/obo/MONDO_0010651
skos:prefLabel - "๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใƒกใƒณใ‚ฑใ‚น็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200683 +
http://nanbyodata.jp/ontology/NANDO_1200654 (rdf:type owl:Class @@ -53461,89 +62649,94 @@

hasNotificationNumber198hasNotificationNumber170
dcterms:description - "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€ๅคš็™บๅฝขๆ…‹็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚" + "ๆœฌ็—‡ใฏATP7A้บไผๅญ็•ฐๅธธ็—‡ใงใ€ๅŒใ˜้บไผๅญ็•ฐๅธธ็–พๆ‚ฃใงใ‚ใ‚‹ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฎๆฅต่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€ๆœฌ็—‡ใฎๅๅ‰ใฎ็”ฑๆฅใซใชใฃใฆใ„ใ‚‹ใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚‹็ตๅˆ็น”็•ฐๅธธใŒไธป็—‡็Šถใงใ€็šฎ่†š้Žไผธๅฑ•ใ€่ก€็ฎก็•ฐๅธธใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€่†€่ƒฑๆ†ฉๅฎคใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๅคšใใฏๅญฆ็ซฅๆœŸไปฅ้™ใ€็Ÿฅ่ƒฝ้šœๅฎณใฏ่ปฝๅบฆ๏ฝžๆญฃๅธธใงใ‘ใ„ใ‚Œใ‚“ใฏใชใ„ใ€้ ญ้ซช็•ฐๅธธใฏ่ฆ‹ใ‚‰ใ‚Œใชใ„ใชใฉใฎ็‚นใŒใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใจ็•ฐใชใ‚Šใ€็พๆ™‚็‚นใงใฏไธก่€…ใ‚’็ตฑไธ€็š„ใซๅ–ใ‚Šๆ‰ฑใ†็–พๆ‚ฃๆฆ‚ๅฟตใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚็พๅœจๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€็™บ็—‡ใฏๅŽŸๅ‰‡็”ทๆ€งใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200683NANDO:1200654
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/198-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/170-201704-kojin.pdf
rdfs:label - "4p deletion syndrome" + "Occipital horn syndrome" @en
rdfs:label - "๏ผ”pๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใŠใใ—ใดใŸใ‚‹ใƒปใปใƒผใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1654http://nanbyodata.jp/ontology/NANDO_2200581
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157311_1.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3389
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4804https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01859
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157152.docx
- skos:altLabel - "4p-syndrome" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4555
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008684 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100003
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022762http://purl.obolibrary.org/obo/MONDO_0010572
skos:prefLabel - "๏ผ”pๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200684 +
http://nanbyodata.jp/ontology/NANDO_1200655 (rdf:type owl:Class @@ -53551,89 +62744,94 @@

hasNotificationNumber199hasNotificationNumber171
dcterms:description - "5pๆฌ ๅคฑ็—‡ๅ€™็พคใฏ๏ผ•็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚" + "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใง้บไผใ™ใ‚‹่ƒ†ๆฑไธญใธใฎ้Š…ๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง้Š…้Žๅ‰ฐ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200684NANDO:1200655
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/199-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/171-201704-kojin.pdf
rdfs:label - "5p deletion syndrome" + "Wilson disease" @en
rdfs:label - "๏ผ•pๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใ†ใƒใ‚‹ใใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=373http://nanbyodata.jp/ontology/NANDO_2200579
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00764http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3187
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157196.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00210
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4862https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157141.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4543
- skos:altLabel - "5p-syndrome" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007404http://purl.obolibrary.org/obo/MONDO_0010200
skos:prefLabel - "๏ผ•pๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200685 +
http://nanbyodata.jp/ontology/NANDO_1200656 (rdf:type owl:Class @@ -53641,96 +62839,89 @@

hasNotificationNumber200hasNotificationNumber172
dcterms:description - "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€14็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ32.2้ ˜ๅŸŸ๏ผˆ14q32.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹ใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ้บไผๅญใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๅฐ่ƒธ้ƒญใซใ‚ˆใ‚‹ๅ‘ผๅธ้šœๅฎณใ€่…นๅฃ็•ฐๅธธใ€็‰นๅพด็š„ใช้ก”่ฒŒใ‚’็คบใ™ใ€‚ๆฒป็™‚ๆณ•ใฏๆœช็ขบ็ซ‹ใงใ€ๅฏพ็—‡็™‚ๆณ•ใŒไธญๅฟƒใจใชใ‚‹ใ€‚" + "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ใฏใ€้ชจใƒฌใƒณใƒˆใ‚ฒใƒณๆคœๆŸปใง้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ€่ก€ๆถฒๆคœๆŸปใง่ก€ๆธ…ใ‚ขใƒซใ‚ซใƒชใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰ๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ALPใฎๆดปๆ€งไฝŽไธ‹ใซใจใ‚‚ใชใ„่“„็ฉใ™ใ‚‹ใƒ”ใƒญใƒชใƒณ้…ธใŒ็Ÿณ็ฐๅŒ–ใ‚’้šœๅฎณใ™ใ‚‹ใ“ใจใ‚„ใ€ๅฑ€ๆ‰€ใฎใƒชใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ALPใฎๅŸบ่ณชใงใ‚ใ‚‹phosphoethanolamine, inorganic pyrophosphate๏ผˆใƒ”ใƒญใƒชใƒณ้…ธ๏ผ‰, pyridoxal 5'-phosphateใฎไธŠๆ˜‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใŒใ€็จ€ใซๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200685NANDO:1200656
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/200-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/172-201704-kojin.pdf
rdfs:label - "Paternal uniparental disomy of chromosome 14" + "Hypophosphatasia" @en
rdfs:label - "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" + "ใฆใ„ใปใ™ใตใใŸใƒผใœใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4706http://nanbyodata.jp/ontology/NANDO_2201012
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01801https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00213
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157240.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157251.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4687https://www.nanbyou.or.jp/entry/4564
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014
- skos:altLabel - "Kagami-Ogata syndrome" - @en
- skos:altLabel - "No. 14 chromosome father disomy syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_1100008
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011975http://purl.obolibrary.org/obo/MONDO_0018570
skos:prefLabel - "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" + "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200686 +
http://nanbyodata.jp/ontology/NANDO_1200657 (rdf:type owl:Class @@ -53738,82 +62929,96 @@

hasNotificationNumber201hasNotificationNumber173
dcterms:description - "้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ€ๆ—ฅๆœฌใงใฏ500๏ฝž1,000ไบบ็จ‹ๅบฆใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "VATER็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ• ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200686NANDO:1200657
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/201-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/173-201704-kojin.pdf
rdfs:label - "Angelman syndrome" + "VATER syndrome" @en
rdfs:label - "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" + "VATER็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผใตใใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=88http://nanbyodata.jp/ontology/NANDO_2200983
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01732http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1613
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157122.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157281.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4771https://www.nanbyou.or.jp/entry/4850
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "VATER association" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007113http://purl.obolibrary.org/obo/MONDO_0008642
skos:prefLabel - "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" + "VATER็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใชใ™ใƒปใฏใ“ใ‚‰ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200687 +
http://nanbyodata.jp/ontology/NANDO_1200658 (rdf:type owl:Class @@ -53821,82 +63026,84 @@

hasNotificationNumber202hasNotificationNumber174
dcterms:description - "17็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎไธญ้–“้ƒจๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€่‡ชๅ‚ท่กŒ็‚บใ€่กŒๅ‹•็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใƒฌใƒ ็ก็œ ใฎๆธ›ๅฐ‘ใ‚„ๆฌ ๅฆ‚ใซใ‚ˆใ‚‹็ก็œ ้šœๅฎณใ‚’่ชใ‚ใ‚‹ๆ‚ฃ่€…ใ‚‚ใ„ใ‚‹ใ€‚" + "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…๏ผˆNasu-Hakola disease๏ผ‰ใฏใ€ๅคš็™บๆ€ง้ชจๅšข่ƒžใซใ‚ˆใ‚‹็—…็š„้ชจๆŠ˜ใจ็™ฝ่ณช่„ณ็—‡ใซใ‚ˆใ‚‹่‹ฅๅนดๆ€ง่ช็Ÿฅ็—‡ใ‚’ไธปๅพดใจใ—ใ€DAP12๏ผˆTYROBP๏ผ‰้บไผๅญๅˆใฏTREM2้บไผๅญใฎๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1970ๅนดไปฃใซใ€้‚ฃ้ ˆๆฏ…ๅšๅฃซใจHakolaๅšๅฃซใซใ‚ˆใ‚Š็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œใ€polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ๏ผˆPLOSL๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏๆœฌ้‚ฆใจๅŒ—ๆฌง๏ผˆใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰๏ผ‰ใซ้›†็ฉใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ‚ฃ่€…ๆ•ฐใฏ็ด„200ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200687NANDO:1200658
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/202-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/174-201704-kojin.pdf
rdfs:label - "Smith-Magenis syndrome" + "Nasu-Hakola disease" @en
rdfs:label - "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1412 + rdfs:label + "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01791http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2075
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157219.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157256.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4853https://www.nanbyou.or.jp/entry/4256
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008434http://purl.obolibrary.org/obo/MONDO_0009092
skos:prefLabel - "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" + "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200688 +
http://nanbyodata.jp/ontology/NANDO_1200659 (rdf:type owl:Class @@ -53904,82 +63111,94 @@

hasNotificationNumber203hasNotificationNumber175
dcterms:description - "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พคใฏใ€ๆ‚ฃ่€…ใฎ80๏ผ…ใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€่ƒธ่…บ็™บ้”้…ๅปถใƒป็„กๅฝขๆˆใซใ‚ˆใ‚‹ๅ…็–ซไฝŽไธ‹ใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใƒป่ปŸๅฃ่“‹้–‰้Ž–ไธๅ…จใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚4,000๏ฝž5,000ไบบใซ๏ผ‘ไบบใฎ้ ปๅบฆใง็™บ็”Ÿใ™ใ‚‹ๅธŒใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“22q11.2ใฎๅพฎ็ดฐๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œ็ด„30ๅ€‹ไปฅไธŠใฎ้บไผๅญใŒๆฌ ๅคฑใ—ใฆใ„ใ‚‹ใŒใ€ๆœชใ ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒ็–พๆ‚ฃใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€่‚บๅ‹•่„ˆๅผๆฌ ๆใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธป่ฆไฝ“่‚บๅดๅ‰ฏๅ‹•่„ˆใฎๅˆไฝตใชใฉใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ใŒใ—ใฐใ—ใฐๅ›ฐ้›ฃใงใ€ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚‹ๆญปไบกไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅˆไฝตใ™ใ‚‹ๅ…็–ซไฝŽไธ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่‚บ้ซ˜่ก€ๅœงใชใฉใซใ‚ˆใ‚Šๆ‰‹่ก“ๆญปไบกใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€ๆœชใ ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใฏๆœช็ขบ็ซ‹ใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏใŸใจใˆ็”Ÿๅญ˜ใ—ใฆใ‚‚ใ€็™บ้”้…ๅปถใ‚„็ฒพ็ฅž็–พๆ‚ฃใ€็ตฑๅˆๅคฑ่ชฟ็—‡ใชใฉใซใ‚ˆใ‚‹็”Ÿๆดป้ขใฎ้•ทๆœŸใซใ‚ใŸใ‚‹ๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚" + "ใ‚ฆใ‚ฃใƒผใƒใƒผ๏ผˆWeaver๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€่ปฝๅบฆ๏ฝžไธญ็ญ‰ๅบฆใฎ็™บ้”ใฎ้…ใ‚Œใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใปใ‹ใซใ€ๅคง้ ญ็—‡ใ€ไฝŽใ„ๆณฃใๅฃฐใ€ๅฐ้กŽ็—‡ใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใ€ๆŒ‡ใƒปๅ››่‚ข้–ข็ฏ€ไผธๅฑ•ใƒปๆ‹˜็ธฎ๏ผŒไฝ™ๅ‰ฐ็šฎ่†šใ€็ดฐใ็ฒ—ใชๆฏ›้ซชใชใฉใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200688NANDO:1200659
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/203-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/175-201704-kojin.pdf
rdfs:label - "22q11.2 deletion syndrome" + "Weaver syndrome" @en
rdfs:label - "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใ†ใƒใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1538http://nanbyodata.jp/ontology/NANDO_2200957
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157259.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3180
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5317https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01751
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157139.docx
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008564 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4684
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018923http://purl.obolibrary.org/obo/MONDO_0010193
skos:prefLabel - "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" + "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200689 +
http://nanbyodata.jp/ontology/NANDO_1200660 (rdf:type owl:Class @@ -53987,82 +63206,94 @@

hasNotificationNumber204hasNotificationNumber176
dcterms:description - "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พคใฏ็‰น็•ฐ้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅฐ้กŽ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚22็•ช้Žๅ‰ฐๆดพ็”ŸๆŸ“่‰ฒไฝ“็—‡ๅ€™็พคใ€11/22ๆททๅˆใƒˆใƒชใ‚ฝใƒŸใƒผใชใฉใจใ‚‚ๅ‘ผใฐใ‚ŒใฆใŠใ‚Šใ€ๆŸ“่‰ฒไฝ“่ปขๅบงt(11;22)ใซ็”ฑๆฅใ™ใ‚‹22็•ชๆดพ็”ŸๆŸ“่‰ฒไฝ“ใ‚’47ๆœฌ็›ฎใฎๆŸ“่‰ฒไฝ“ใจใ—ใฆ้Žๅ‰ฐใซๆŒใคใ“ใจใŒๆœฌ็–พๆ‚ฃใฎๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฎๅˆ†ๅญ้บไผๅญฆ็ ”็ฉถใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆœฌ็–พๆ‚ฃใฎ็™บ็”Ÿ้ ปๅบฆใŒไบˆๆƒณๅค–ใซ้ซ˜ใ„ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚" + "็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฐ้ ญ็—‡ใ€ๅ…ˆ็ดฐใ‚ŠใฎๆŒ‡ใชใฉ้ชจๆ ผ็ณปใฎ็‰นๅพดใ‚’ๆœ‰ใ—ใ€้Ÿณใ‚„่งฆ่ฆšใชใฉใฎๆ€ฅใชๅˆบๆฟ€ใงๆ„่ญ˜ๆถˆๅคฑใ‚’ไผดใ‚ใชใ„่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200689NANDO:1200660
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/204-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/176-201704-kojin.pdf
rdfs:label - "Emanuel syndrome" + "Coffin-Lowry syndrome" @en
rdfs:label - "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค" + "ใ“ใตใƒใ‚“ใƒปใ‚ใƒผใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4865http://nanbyodata.jp/ontology/NANDO_2200952
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01790http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3376
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157149.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00574
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4609https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157199.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4666
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012176http://purl.obolibrary.org/obo/MONDO_0010561
skos:prefLabel - "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค" + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + - - - - + "ใ˜ใ‚…ในใƒผใ‚‹ใ—ใฃใ‹ใ‚“ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200690 +
http://nanbyodata.jp/ontology/NANDO_1200661 (rdf:type owl:Class @@ -54070,89 +63301,86 @@

hasNotificationNumber205hasNotificationNumber177
dcterms:description - "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚" + "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€1969ๅนดใซๅฐ่„ณ่™ซ้ƒจๆฌ ๆใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅคฑ่ชฟใ€็™บ้”ใฎ้…ใ‚Œใ€็œผ็ƒ้‹ๅ‹•็•ฐๅธธใชใฉใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็ถฒ่†œ็•ฐๅธธใ€่…Žๅšข่ƒžใ€่‚้šœๅฎณใ€ๅฃ่…”ๅ‘จๅ›ฒใ€ๆŒ‡๏ผˆ่ถพ๏ผ‰ใชใฉใฎๅน…ๅบƒใ„่‡จๅบŠ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ็–พๆ‚ฃ็พคใซใฏๆ”พๅฐ„็ทšๅญฆ็š„ใช่„ณๅนนใฎๅฝขๆˆ็•ฐๅธธ๏ผˆMTS: Molar Tooth Sign๏ผ‰ใ‚’ๅ…ฑ้€šใซๆœ‰ใ™ใ‚‹็‰นๅพดใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚ใใฎใŸใ‚ใ€ใ“ใฎใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใ‚’ๅซใ‚€ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใ‚’ใ€ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใจใใฎ้–ข้€ฃ็–พๆ‚ฃ๏ผˆJSRD๏ผ‰ใจๅ‘ผใถใ‚ˆใ†ใซใชใฃใŸใ€‚ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅŽŸๅ› ้บไผๅญใฎ้•ใ„ใ‹ใ‚‰28ไบœๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹๏ผˆJBTS1 (OMIM: 213300)ใ€œJBTS28๏ผˆOMIM: 617121๏ผ‰๏ผ‰ใ€‚ใใฎ่‡จๅบŠ็š„็‰นๅพดใฏใ€่„ณ็”ปๅƒใฎMTSใจใ€ๆง˜ใ€…ใช็จ‹ๅบฆใซ็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚JSRDใซใฏใ€ๆœ‰้ฆฌ็—‡ๅ€™็พค๏ผˆOMIM: 243910๏ผ‰ใ€ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค๏ผˆOMIM: 266900๏ผ‰ใ€COACH็—‡ๅ€™็พค๏ผˆOMIM: 216360๏ผ‰ใ€ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค๏ผˆOMIM: 258860๏ผ‰ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใงใฏใ€็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅˆไฝตใ—ใ€ๆˆไบบใงใฏใ€่…Žไธๅ…จใฎใŸใ‚่…Ž้€ๆžใชใ„ใ—่…Ž็งปๆคใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏ1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž๏ผˆใƒใƒ•ใƒญใƒณ็™†๏ผ‰ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€่…Ž้€ๆžใชใฉใ‚’่กŒใ‚ใชใ„ใจๅฐๅ…ๆœŸใพใงใซๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พคใงใฏใ€Leberๅ…ˆๅคฉ็›ฒใ€็ถฒ่†œๅค‰ๆ€ง็—‡ใ€ใƒใƒ•ใƒญใƒณ็™†ใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸใ‚ˆใ‚Šๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่ฆ–่ฆš้šœๅฎณ๏ผˆๅคฑๆ˜Žใ‚’ๅซใ‚€ใ€‚๏ผ‰ใจ่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚COACH็—‡ๅ€™็พคใงใฏใ€็ฒพ็ฅž้…ๆปžใ€ๅฐ่„ณๅคฑ่ชฟใ€่„ˆ็ตก่†œๆฌ ๆใ€่‚็ทš็ถญ็—‡ใ‚’ๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่‚็ทš็ถญ็—‡ใซใ‚ˆใ‚‹้™่„ˆ็˜คใฎๅ‡บ่ก€ใ‚„่‚ไธๅ…จใ€่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใงใฏใ€ๅฃ่“‹่ฃ‚ใชใฉใฎๅฃ่…”็•ฐๅธธใ€้ก”้ขใจๆŒ‡๏ผˆ่ถพ๏ผ‰ๅฅ‡ๅฝขใ€ๅบƒ็ฏ„ใช่„ณๅฝขๆˆ็•ฐๅธธ๏ผˆๅ…จๅ‰่„ณ่ƒž็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚„ไธ‹ๅž‚ไฝ“ใฎ็•ฐๅฝขๆˆ๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๆˆไบบใงใฏ็Ÿฅ็š„้šœๅฎณใซ่ตทๅ› ใ™ใ‚‹็”Ÿๆดปๆ”ฏๆดใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใฎไธ€้ƒจใฏXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ไป–ใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200690NANDO:1200661
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/205-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/177-201804-kojin.pdf
rdfs:label - "Fragile X syndrome related diseases" + "Joubert Syndrome and related disorders" @en
rdfs:label - "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6805
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01731 + rdfs:label + "ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157221.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198077.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4615https://www.nanbyou.or.jp/entry/4552
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100001
skos:altLabel - "Fragile X-associated tremor/ataxia syndrome" + "Cerebro-oculo-hepato-renal syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010382http://purl.obolibrary.org/obo/MONDO_0015369
skos:prefLabel - "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + "ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200691 +
http://nanbyodata.jp/ontology/NANDO_1200662 (rdf:type owl:Class @@ -54160,77 +63388,82 @@

hasNotificationNumber205hasNotificationNumber177
dcterms:identifier1200691NANDO:1200662
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/205-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/177-201804-kojin.pdf
rdfs:label - "Fragile X tremor/ataxia syndrome" + "Arima syndrome" @en
rdfs:label - "่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค" + "ใ‚ใ‚Šใพใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆœ‰้ฆฌ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6805http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2471
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157221.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01811
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4615https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198077.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200690 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4552
- skos:altLabel - "FXTAS" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200661
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010382http://purl.obolibrary.org/obo/MONDO_0009480
skos:prefLabel - "่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค" + "ๆœ‰้ฆฌ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200692 +
http://nanbyodata.jp/ontology/NANDO_1200663 (rdf:type owl:Class @@ -54238,82 +63471,94 @@

hasNotificationNumber206hasNotificationNumber178
dcterms:description - "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚" + "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200692NANDO:1200663
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/206-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/178-201704-kojin.pdf
rdfs:label - "Fragile X syndrome" + "Mowat-Wilson syndrome" @en
rdfs:label - "่„†ๅผฑX็—‡ๅ€™็พค" + "ใ‚‚ใ‚ใฃใจใƒปใ†ใƒใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6806http://nanbyodata.jp/ontology/NANDO_2200981
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00465http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2328
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157220.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00908
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4612https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157308.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4594
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010383http://purl.obolibrary.org/obo/MONDO_0009341
skos:prefLabel - "่„†ๅผฑX็—‡ๅ€™็พค" + "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200693 +
http://nanbyodata.jp/ontology/NANDO_1200664 (rdf:type owl:Class @@ -54321,94 +63566,94 @@

hasNotificationNumber207hasNotificationNumber179
dcterms:description - "ๅคงใใชๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๆœ‰ใ—ใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ๅ˜ไธ€ใฎๅ‹•่„ˆใซ่ก€ๆถฒใ‚’้ง†ๅ‡บใ™ใ‚‹ใ“ใจใงใ€ๅคงๅ‹•่„ˆใ€่‚บๅ‹•่„ˆๅŠใณๅ† ๅ‹•่„ˆใซ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ไผดใ†่‚บ่ก€ๆตๅข—ๅคšใจใ€็ทๅ‹•่„ˆๅนนๅผๅฝขๆˆไธๅ…จใซใ‚ˆใ‚‹ๅผ้€†ๆตใซใ‚ˆใ‚Šใ€ๅ‡บ็”ŸๅพŒใŸใ ใกใซๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ€€Collett and Edwardsใฎๅˆ†้กž" + "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ๏ผˆWilliams๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ๅŠใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒใ€้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—ใ€็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„ใ€็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200693NANDO:1200664
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/179-201704-kojin.pdf
rdfs:label - "Persistent truncus arteriosus" + "Williams syndrome" @en
rdfs:label - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" + "ใ†ใƒใ‚Šใ‚ใ‚€ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1985http://nanbyodata.jp/ontology/NANDO_2200286
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01736http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1648
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01439
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4895
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157140.docx
- skos:altLabel - "Truncus arteriosus communis" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4765
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016581 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018072http://purl.obolibrary.org/obo/MONDO_0008678
skos:prefLabel - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" + "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200694 +
http://nanbyodata.jp/ontology/NANDO_1200665 (rdf:type owl:Class @@ -54416,60 +63661,96 @@

hasNotificationNumber207hasNotificationNumber180
+ dcterms:description + "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พคใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พคใฎไธ€ใคใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข๏ผˆHbH็—…๏ผ‰ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200694NANDO:1200665
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/180-201704-kojin.pdf
rdfs:label - "Truncus arteriosus communis type I" + "ATR-X syndrome" @en
rdfs:label - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰" + "ATR-X็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใˆใƒผใฆใƒใƒผใ‚ใƒผใ‚‹ใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docxhttp://nanbyodata.jp/ontology/NANDO_2200839
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4895http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3332
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157145.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4432
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200693http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "Alpha-thalassemia mental retardation syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010519
skos:prefLabel - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰" + "ATR-X็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200695 +
http://nanbyodata.jp/ontology/NANDO_1200666 (rdf:type owl:Class @@ -54477,60 +63758,89 @@

hasNotificationNumber207hasNotificationNumber181
+ dcterms:description + "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200695NANDO:1200666
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/181-201704-kojin.pdf
rdfs:label - "Truncus arteriosus communis type II" + "Crouzon's Syndrome" @en
rdfs:label - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰" + "ใใ‚‹ใƒผใžใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=374
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4895https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01754
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157178.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4672
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200693http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007405
skos:prefLabel - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰" + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200696 +
http://nanbyodata.jp/ontology/NANDO_1200667 (rdf:type owl:Class @@ -54538,60 +63848,94 @@

hasNotificationNumber207hasNotificationNumber182
+ dcterms:description + "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200696NANDO:1200667
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/182-201704-kojin.pdf
rdfs:label - "Truncus arteriosus communis type III" + "Apert syndrome" @en
rdfs:label - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰" + "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docxhttp://nanbyodata.jp/ontology/NANDO_2200844
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4895http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=12
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01755
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157116.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4678
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200693http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007041
skos:prefLabel - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰" + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200697 +
http://nanbyodata.jp/ontology/NANDO_1200668 (rdf:type owl:Class @@ -54599,60 +63943,106 @@

hasNotificationNumber207hasNotificationNumber183
+ dcterms:description + "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200697NANDO:1200668
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/183-201704-kojin.pdf
rdfs:label - "Truncus arteriosus communis type โ…ฃ" + "Pfeiffer syndrome" @en
rdfs:label - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰" + "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docxhttp://nanbyodata.jp/ontology/NANDO_2200976
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4895http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=14
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01756
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157278.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4675
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200693http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "Pfeiffer็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005810
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007043
skos:prefLabel - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰" + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200698 +
http://nanbyodata.jp/ontology/NANDO_1200669 (rdf:type owl:Class @@ -54660,79 +64050,96 @@

hasNotificationNumber208hasNotificationNumber184
dcterms:description - "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚" + "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200698NANDO:1200669
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/208-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/184-201704-kojin.pdf
rdfs:label - "Corrected Transposition of Great Arteries" + "Antley-Bixler syndrome" @en
rdfs:label - "ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01786http://nanbyodata.jp/ontology/NANDO_2200975
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157209.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01753
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4474https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157123.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4669
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1100014
skos:altLabel - "Corrected transposition of the great arteries" + "Antley-Bixler Syndrome Phenotype" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008803
skos:prefLabel - "ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200699 +
http://nanbyodata.jp/ontology/NANDO_1200670 (rdf:type owl:Class @@ -54740,86 +64147,89 @@

hasNotificationNumber209hasNotificationNumber185
dcterms:description - "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚" + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200699NANDO:1200670
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/185-201704-kojin.pdf
rdfs:label - "Complete Transposition of Great Arteries" + "Coffin-Siris Syndrome" @en
rdfs:label - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ“ใตใƒใ‚“ใƒปใ—ใ‚Šใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00550http://nanbyodata.jp/ontology/NANDO_2200977
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01403
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4477https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157198.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4762
- skos:altLabel - "Complete TGA" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100014
- skos:altLabel - "Complete transpositionย of theย great arteries" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015452
skos:prefLabel - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200700 +
http://nanbyodata.jp/ontology/NANDO_1200671 (rdf:type owl:Class @@ -54827,60 +64237,89 @@

hasNotificationNumber209hasNotificationNumber186
+ dcterms:description + "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พคใฏใ€ๅฐๆŸ„ใชไฝ“ๅž‹ใ€ๆ—ฅๅ…‰้Žๆ•ๆ€ง็ด…ๆ–‘ใ€ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ใ€้ชจๆ ผ็•ฐๅธธใ€่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผ็—…ใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พคใ€ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พคใŒใ‚ใ‚‹ใŒใ€ๅŒใ˜้บไผๅญๅบงใซ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰็พๆ™‚็‚นใงใฏๅฝ“่ฉฒ็–พๆ‚ฃใซๅซใ‚ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" + @ja
dcterms:identifier1200700NANDO:1200671
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/186-201704-kojin.pdf
rdfs:label - "Complete transpositionย of theย great arteries (Group1)" + "Rothmund-Thomson syndrome" @en
rdfs:label - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰" + "ใ‚ใ™ใ‚€ใ‚“ใฉใƒปใจใ‚€ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2985
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4477https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01734
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157322.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4471
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200699http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010002
skos:prefLabel - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰" + "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200701 +
http://nanbyodata.jp/ontology/NANDO_1200672 (rdf:type owl:Class @@ -54888,60 +64327,89 @@

hasNotificationNumber209hasNotificationNumber187
+ dcterms:description + "1981ๅนดใซๆˆ‘ใŒๅ›ฝใง่ฆ‹ใ„ใ ใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๆญŒ่ˆžไผŽ็—‡ๅ€™็พคใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚Šใ€ๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000็จ‹ๅบฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๅญค็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใ‚ใฆๅฐ‘ๆ•ฐใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200701NANDO:1200672
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/187-201704-kojin.pdf
rdfs:label - "Complete transpositionย of theย great arteries (Group2)" + "Kabuki syndrome" @en
rdfs:label - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰" + "ใ‹ใถใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docxhttp://nanbyodata.jp/ontology/NANDO_2200956
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4477https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00570
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157160.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4663
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200699http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016512
skos:prefLabel - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰" + "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200702 +
http://nanbyodata.jp/ontology/NANDO_1200673 (rdf:type owl:Class @@ -54949,60 +64417,84 @@

hasNotificationNumber209hasNotificationNumber188
+ dcterms:description + "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚" + @ja
dcterms:identifier1200702NANDO:1200673
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/188-201704-kojin.pdf
rdfs:label - "Complete transpositionย of theย great arteries (Group3)" + "Polysplenia syndrome" @en
rdfs:label - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰" + "ใŸใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš่„พ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docxhttp://nanbyodata.jp/ontology/NANDO_2200310
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4477https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01764
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157242.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5335
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200699http://nanbyodata.jp/ontology/NANDO_1100014
skos:prefLabel - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰" + "ๅคš่„พ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200703 +
http://nanbyodata.jp/ontology/NANDO_1200674 (rdf:type owl:Class @@ -55010,60 +64502,79 @@

hasNotificationNumber209hasNotificationNumber189
+ dcterms:description + "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚" + @ja
dcterms:identifier1200703NANDO:1200674
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/189-201704-kojin.pdf
rdfs:label - "Complete transpositionย of theย great arteries (Group4)" + "Asplenia syndrome" @en
rdfs:label - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰" + "ใ‚€ใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็„ก่„พ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docxhttp://nanbyodata.jp/ontology/NANDO_2200309
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4477https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157302.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5341
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200699http://nanbyodata.jp/ontology/NANDO_1100014
skos:prefLabel - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰" + "็„ก่„พ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ•ใ„ใ˜ใ˜ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200704 +
http://nanbyodata.jp/ontology/NANDO_1200675 (rdf:type owl:Class @@ -55071,84 +64582,91 @@

hasNotificationNumber210hasNotificationNumber190
dcterms:description - "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + "้ฐ“่€ณ่…Ž๏ผˆBranchio-oto-renal๏ผšBOR๏ผ‰็—‡ๅ€™็พคใฏใ€้ ธ็˜ปใƒป่€ณ็˜ปๅญ”ใƒปๅค–่€ณๅฅ‡ๅฝขใชใฉใฎ้ฐ“ๅŽŸๆ€งๅฅ‡ๅฝขใ€ๆง˜ใ€…ใชใ‚ฟใ‚คใƒ—ใฎ้›ฃ่ดใ€่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ™‚ใซ้ก”้ข็ฅž็ตŒ้บป็—บใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใŒใ€ไธ€่ˆฌใซ็Ÿฅ็š„็™บ้”ใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ้›ฃ่ดใธใฎๆ—ฉๆœŸไป‹ๅ…ฅใŒๆ‚ฃ่€…ใฎ่จ€่ชž็™บ้”ใ‚’ๆ”นๅ–„ใ—ใ€ใพใŸ่…Ž็—‡็Šถใฎ้‡็—‡ๅบฆใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200704NANDO:1200675
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/210-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/190-201704-kojin.pdf
rdfs:label - "Single ventricle heart defect" + "Branchio-oto-renal syndrome" @en
rdfs:label - "ๅ˜ๅฟƒๅฎค็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01787 + rdfs:label + "้ฐ“่€ณ่…Ž็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157245.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157200.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4369https://www.nanbyou.or.jp/entry/4387
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1100012
skos:altLabel - "Univentricular heart" + "BOR syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015451http://purl.obolibrary.org/obo/MONDO_0007029
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018878
skos:prefLabel - "ๅ˜ๅฟƒๅฎค็—‡" + "้ฐ“่€ณ่…Ž็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200705 +
http://nanbyodata.jp/ontology/NANDO_1200676 (rdf:type owl:Class @@ -55156,77 +64674,94 @@

hasNotificationNumber211hasNotificationNumber191
dcterms:description - "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚งใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅพดๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค๏ผˆWerner syndrome๏ผ‰ใฏ็™ฝๅ†…้šœใ‚„็™ฝๆฏ›ใ€่„ฑๆฏ›ใชใฉใ€ๅฎŸๅนด้ฝขใซๆฏ”ในใฆใ€Œ่€ๅŒ–ใŒไฟƒ้€ฒใ•ใ‚ŒใŸใ€ใ‚ˆใ†ใซ่ฆ‹ใˆใ‚‹่ซธ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‹ใ‚‰โ€œๆ—ฉ่€็—‡โ€ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ใŒใ‚“ใ‚„ๅ‹•่„ˆ็กฌๅŒ–ใฎใŸใ‚40ๆญณๅŠใฐใงๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ€ๆ—ฅๆœฌใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ็ด„2,000ๅใงใ‚ใ‚Šใ€ไธ–็•Œใฎๅ ฑๅ‘Šใฎ๏ผ–ๅ‰ฒใŒๆ—ฅๆœฌไบบใงใ‚ใ‚Šๆˆ‘ใŒๅ›ฝใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒ1994ๅนดใซๅŒๅฎšใ•ใ‚ŒใŸใŒใ€ๆ—ฉ่€ๆฉŸๅบใฏๆœช่งฃๆ˜Žใ€ๆ นๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚Šใ€ๅคšใใฎๆ‚ฃ่€…ใŒใ€้›ฃๆฒปๆ€ง็šฎ่†šๆฝฐ็˜ใซไผดใ†ไธ‹่‚ขๅˆ‡ๆ–ญใ‚„ๆ‚ชๆ€ง่…ซ็˜ใ€็ณ–ๅฐฟ็—…ใฎใŸใ‚ใ€็”Ÿๅ‘ฝใฎๅฑๆฉŸๅˆใฏๆญปใ‚’ๅ…ใ‚Œใฆใ‚‚้‡็ฏคใชๅพŒ้บ็—‡ใซ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200705NANDO:1200676
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/211-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/191-201704-kojin.pdf
rdfs:label - "Hypoplastic left heart syndrome" + "Werner syndrome" @en
rdfs:label - "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" + "ใ†ใ‡ใ‚‹ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01272http://nanbyodata.jp/ontology/NANDO_2200831
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157201.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3183
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01733
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157143.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4372https://www.nanbyou.or.jp/entry/5320
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004933http://purl.obolibrary.org/obo/MONDO_0010196
skos:prefLabel - "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" + "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200706 +
http://nanbyodata.jp/ontology/NANDO_1200677 (rdf:type owl:Class @@ -55234,82 +64769,89 @@

hasNotificationNumber212hasNotificationNumber192
dcterms:description - "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค๏ผˆCockayne syndrome๏ผšCS๏ผ‰ใฏ็ดซๅค–็ทšๆ€งDNAๆๅ‚ทใฎไฟฎๅพฉใ‚ทใ‚นใƒ†ใƒ ใ€็‰นใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰้™คๅŽปไฟฎๅพฉใซใŠใ‘ใ‚‹่ปขๅ†™ๅ…ฑ็›Šไฟฎๅพฉ๏ผˆ่ปขๅ†™้ ˜ๅŸŸใฎDNAๆๅ‚ทใฎๅ„ชๅ…ˆ็š„ใชไฟฎๅพฉ๏ผ‰ใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆ—ฉ่€็—‡ใงใ‚ใ‚‹ใ€‚1936ๅนดใซใ‚คใ‚ฎใƒชใ‚นใฎๅฐๅ…็ง‘ๅŒป Cockayneใซใ‚ˆใ‚Šใ€Œ่ฆ–็ฅž็ตŒใฎ่Ž็ธฎใจ้›ฃ่ดใ‚’ไผดใ„็™บ่‚ฒใŒ่‘—ๆ˜ŽใซไฝŽไธ‹ใ—ใŸ็—‡ไพ‹ใ€ใจใ—ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ๆ—ฅๅ…‰้Žๆ•็—‡ใ€็‰น็•ฐใช่€ไบบๆง˜้ก”่ฒŒใ€็šฎไธ‹่„‚่‚ชใฎ่Ž็ธฎใ€ไฝŽ่บซ้•ทใ€่‘—ๆ˜Žใชๆ „้คŠ้šœๅฎณใ€่ฆ–ๅŠ›้šœๅฎณใ€้›ฃ่ดใชใฉใ‚‚ไผดใ†็จ€ใช็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚CSใฎๆœฌ้‚ฆใงใฎ็™บ็—‡้ ปๅบฆใฏ2.7/100ไธ‡ไบบใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200706NANDO:1200677
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/212-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/192-201704-kojin.pdf
rdfs:label - "Tricuspid atresia" + "Cockayne syndrome" @en
rdfs:label - "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" + "ใ“ใ‘ใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4313http://nanbyodata.jp/ontology/NANDO_2200832
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01785https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00076
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157202.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157960.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4480https://www.nanbyou.or.jp/entry/4435
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011514http://purl.obolibrary.org/obo/MONDO_0016006
skos:prefLabel - "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" + "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200707 +
http://nanbyodata.jp/ontology/NANDO_1200678 (rdf:type owl:Class @@ -55317,89 +64859,94 @@

hasNotificationNumber213hasNotificationNumber193
dcterms:description - "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + "1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚ฃใƒชใŒๅˆๅŒใง็™บ่กจใ—ใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚15็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ็•ฐๅธธใซใ‚ˆใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใ€ๆบ€่…นไธญๆžขใ‚’ใฏใ˜ใ‚ไฝ“ๆธฉใ€ๅ‘ผๅธไธญๆžขใชใฉใฎ็•ฐๅธธใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚้ ปๅบฆใฏใ€๏ผ‘ไธ‡ไบบใ‹ใ‚‰๏ผ‘ไธ‡๏ผ•ๅƒไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ไบบ็จฎๅทฎใฏใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200707NANDO:1200678
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/213-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/193-201704-kojin.pdf
rdfs:label - "Pulmonary Atresia with Intact Ventricular Septum" + "Prader-Willi syndrome" @en
rdfs:label - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" + "ใทใ‚‰ใ ใƒผใƒปใ†ใƒใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2918http://nanbyodata.jp/ontology/NANDO_2200411
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01802http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1273
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157217.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00478
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157286.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4483https://www.nanbyou.or.jp/entry/4768
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005
- skos:altLabel - "Pulmonary atresia without ventricular septum defect" - @enhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009931http://purl.obolibrary.org/obo/MONDO_0008300
skos:prefLabel - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" + "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200708 +
http://nanbyodata.jp/ontology/NANDO_1200679 (rdf:type owl:Class @@ -55407,89 +64954,89 @@

hasNotificationNumber214hasNotificationNumber194
dcterms:description - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚" + "ใ‚ฝใƒˆใ‚น๏ผˆSotos๏ผ‰็—‡ๅ€™็พคใฏใ€NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅฝŽใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚" @ja
dcterms:identifier1200708NANDO:1200679
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/214-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/194-201704-kojin.pdf
rdfs:label - "Pulmonary atresia with ventricular septum defect" + "Sotos syndrome" @en
rdfs:label - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" + "ใใจใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1324http://nanbyodata.jp/ontology/NANDO_2200953
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01803https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00718
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157216.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157238.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4876https://www.nanbyou.or.jp/entry/4777
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005
- skos:altLabel - "Pulmonary atresia with ventricular septal defect" - @enhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008343http://purl.obolibrary.org/obo/MONDO_0019349
skos:prefLabel - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" + "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200709 +
http://nanbyodata.jp/ontology/NANDO_1200680 (rdf:type owl:Class @@ -55497,89 +65044,89 @@

hasNotificationNumber215hasNotificationNumber195
dcterms:description - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚" + "ใƒŒใƒผใƒŠใƒณ๏ผˆNoonan๏ผ‰็—‡ๅ€™็พคใฏใ€็ดฐ่ƒžๅ†…ใฎRas/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€ไฝŽ่บซ้•ทใ€่ƒธ้ƒญ็•ฐๅธธใ€ๅœ็•™็ฒพๅทฃใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200709NANDO:1200680
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/215-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/195-201704-kojin.pdf
rdfs:label - "Tetralogy of Fallot" + "Noonan syndrome" @en
rdfs:label - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" + "ใฌใƒผใชใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1513http://nanbyodata.jp/ontology/NANDO_2200413
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00549https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01738
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157279.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157262.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4741https://www.nanbyou.or.jp/entry/4865
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005
- skos:altLabel - "Fallot's Tetralogy" - @enhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008542http://purl.obolibrary.org/obo/MONDO_0018997
skos:prefLabel - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" + "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200710 +
http://nanbyodata.jp/ontology/NANDO_1200681 (rdf:type owl:Class @@ -55587,87 +65134,94 @@

hasNotificationNumber216hasNotificationNumber196
dcterms:description - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚" + "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200710NANDO:1200681
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/216-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/196-201704-kojin.pdf
rdfs:label - "Double outlet right ventricle" + "Young-Simpson syndrome" @en
rdfs:label - "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" + "ใ‚„ใ‚“ใใƒปใ—ใ‚“ใทใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1985http://nanbyodata.jp/ontology/NANDO_2200982
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00918http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4182
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157315.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01793
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4873https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157309.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4759
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016581 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018089http://purl.obolibrary.org/obo/MONDO_0011365
skos:prefLabel - "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" + "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200711 +
http://nanbyodata.jp/ontology/NANDO_1200682 (rdf:type owl:Class @@ -55675,89 +65229,89 @@

hasNotificationNumber217hasNotificationNumber197
dcterms:description - "ไธ‰ๅฐ–ๅผใฎ๏ผ‘ๆžšๅˆใฏ๏ผ’ๆžšใฎๅผๅฐ–ไป˜็€ไฝ็ฝฎใŒๅณๅฎคๅ†…ใซใšใ‚Œ่ฝใกใ‚‹ใŸใ‚ใซไธ‰ๅฐ–ๅผใฎ้–‰้Ž–ใซๆ”ฏ้šœใŒ็”Ÿใ˜ใฆ้ซ˜ๅบฆใฎ้€†ๆตใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸๅณๆˆฟๅŒ–ใ—ใŸๅณๅฎคใฎๅฟƒ็ญ‹ใฏ่ฒ่–„ๅŒ–ใ™ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผ้€†ๆตใจๅณๆˆฟๅŒ–ๅณๅฎคใฎใŸใ‚ใซๅณๆˆฟใฏ่‘—ๆ˜Žใซๆ‹กๅคงใ—ใ€ๆฉŸ่ƒฝ็š„ๅณๅฎคใฏ็‹ญๅฐๅŒ–ใ—ใ€ๆฉŸ่ƒฝ็š„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆฟๅฎคๆŽฅๅˆ้ƒจใซใŠใ‘ใ‚‹็ทš็ถญ่ผชใฎๅฝขๆˆใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ๆˆฟๅฎคๅ‰ฏไผๅฐŽ่ทฏใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚‹WPW็—‡ๅ€™็พคใฎๅˆไฝตไพ‹ใŒ็ด„20๏ฝž30๏ผ…ๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "๏ผ‘็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆœซ็ซฏ1p36้ ˜ๅŸŸใฎๆฌ ๅคฑใซใ‚ˆใฃใฆใŠใ“ใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆˆ้•ท้šœๅฎณใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”้…ๆปžใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใชใฉใฎ็—‡็Šถใ‚’ๆฅใŸใ™ใ€‚" @ja
dcterms:identifier1200711NANDO:1200682
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/217-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/197-201704-kojin.pdf
rdfs:label - "Ebstein disease" + "1p36 deletion syndrome" @en
rdfs:label - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" + "1ใดใƒผ36ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2129http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4671
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01783https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01792
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157148.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157128.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4486https://www.nanbyou.or.jp/entry/4495
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005
- skos:altLabel - "Ebstein malformation" - @enhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009144http://purl.obolibrary.org/obo/MONDO_0011929
skos:prefLabel - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" + "๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200712 +
http://nanbyodata.jp/ontology/NANDO_1200683 (rdf:type owl:Class @@ -55765,84 +65319,91 @@

hasNotificationNumber218hasNotificationNumber198
dcterms:description - "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พคใฏ้€ฒ่กŒๆ€ง้บไผๆ€ง่…Ž็‚Žใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใŒX้€ฃ้Ž–ๅž‹้บไผๅฝขๅผใ‚’็คบใ—ใ€ใใฎ้‡็—‡ไพ‹ใงใฏ็”ทๆ€งใง10ไปฃๅพŒๅŠใ‹ใ‚‰20ไปฃๅ‰ๅŠใซๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚่‹ฅๅนด้€ๆžๅฐŽๅ…ฅใฎไธปๅ› ใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใซ้›ปๅญ้ก•ๅพฎ้กใง็‰นๅพด็š„็ถฒ็›ฎ็Šถๅค‰ๅŒ–ใ‚’่ชใ‚่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚็šฎ่†šๅŸบๅบ•่†œใ‚„็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎIVๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ่›‹็™ฝใฎ็•ฐๅธธใฎๆคœๅ‡บใŒ็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚้บไผๅญ่งฃๆžใ‚‚ๅฏ่ƒฝใงใ€็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚" + "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€ๅคš็™บๅฝขๆ…‹็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200712NANDO:1200683
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/218-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/198-201704-kojin.pdf
rdfs:label - "Alport's Syndrome" + "4p deletion syndrome" @en
rdfs:label - "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค" + "4pๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
+ rdfs:label + "4ใดใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00581http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1654
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157120.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157311_1.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4348https://www.nanbyou.or.jp/entry/4804
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1100014
skos:altLabel - "Alport syndrome" + "4p-syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018965http://purl.obolibrary.org/obo/MONDO_0008684
skos:prefLabel - "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค" + "4pๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200713 +
http://nanbyodata.jp/ontology/NANDO_1200684 (rdf:type owl:Class @@ -55850,77 +65411,103 @@

hasNotificationNumber219hasNotificationNumber199
dcterms:description - "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ๏ผˆGalloway-Mowat๏ผ‰็—‡ๅ€™็พคใฏใ€่…Ž็ณธ็ƒไฝ“็กฌๅŒ–็—‡(ใƒใƒ•ใƒญใƒผใ‚ผ๏ผ‰ใ€ๅฐ้ ญ็—‡(ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•้…ๆปž)ใ‚’๏ผ’ไธปๅพดใจใ—ใ€้ก”้ขใƒปๅ››่‚ขๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" + "5pๆฌ ๅคฑ็—‡ๅ€™็พคใฏ๏ผ•็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200713NANDO:1200684
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/219-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/199-201704-kojin.pdf
rdfs:label - "Galloway-Mowat syndrome" + "5p deletion syndrome" @en
rdfs:label - "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค" + "5pๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
+ rdfs:label + "5ใดใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01722http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=373
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157169.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00764
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4468https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157196.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4862
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "5p-syndrome" + @en
+ skos:altLabel + "5p-็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009627http://purl.obolibrary.org/obo/MONDO_0007404
skos:prefLabel - "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค" + "5pๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200714 +
http://nanbyodata.jp/ontology/NANDO_1200685 (rdf:type owl:Class @@ -55928,89 +65515,103 @@

hasNotificationNumber220hasNotificationNumber200
dcterms:description - "่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒ็”Ÿใ˜ใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ—ใฆ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚้‡็ฏคใช็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็”Ÿๅ‘ฝไบˆๅพŒใ€่…ŽไบˆๅพŒใจใ‚‚ใซไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€14็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ32.2้ ˜ๅŸŸ๏ผˆ14q32.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹ใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ้บไผๅญใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๅฐ่ƒธ้ƒญใซใ‚ˆใ‚‹ๅ‘ผๅธ้šœๅฎณใ€่…นๅฃ็•ฐๅธธใ€็‰นๅพด็š„ใช้ก”่ฒŒใ‚’็คบใ™ใ€‚ๆฒป็™‚ๆณ•ใฏๆœช็ขบ็ซ‹ใงใ€ๅฏพ็—‡็™‚ๆณ•ใŒไธญๅฟƒใจใชใ‚‹ใ€‚" @ja
dcterms:identifier1200714NANDO:1200685
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/200-201704-kojin.pdf
rdfs:label - "Rapidly progressive glomerulonephritis" + "Paternal uniparental disomy of chromosome 14" @en
rdfs:label - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ ใ„14ใฐใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใกใกใŠใ‚„ใ›ใ„ใ ใ„ใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01688http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4706
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.dochttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01801
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/74https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157240.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4687
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1100014
skos:altLabel - "crescenticย glomerulonephritis" + "Kagami-Ogata syndrome" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001645 + skos:altLabel + "No. 14 chromosome father disomy syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017236http://purl.obolibrary.org/obo/MONDO_0011975
skos:prefLabel - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200715 +
http://nanbyodata.jp/ontology/NANDO_1200686 (rdf:type owl:Class @@ -56018,67 +65619,94 @@

hasNotificationNumber220hasNotificationNumber201
+ dcterms:description + "้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ€ๆ—ฅๆœฌใงใฏ500๏ฝž1,000ไบบ็จ‹ๅบฆใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200715NANDO:1200686
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/201-201704-kojin.pdf
rdfs:label - "MPO-ANCAย positiveย rapidly progressive glomerulonephritis" + "Angelman syndrome" @en
rdfs:label - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰" + "ใ‚ใ‚“ใ˜ใ‡ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.dochttp://nanbyodata.jp/ontology/NANDO_2200960
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/74http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=88
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01732
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157122.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4771
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200714http://nanbyodata.jp/ontology/NANDO_1100001
- skos:altLabel - "MPO-ANCAย associated crescenticย glomerulonephritis" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007113
skos:prefLabel - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰" + "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200716 +
http://nanbyodata.jp/ontology/NANDO_1200687 (rdf:type owl:Class @@ -56086,60 +65714,94 @@

hasNotificationNumber220hasNotificationNumber202
+ dcterms:description + "17็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎไธญ้–“้ƒจๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€่‡ชๅ‚ท่กŒ็‚บใ€่กŒๅ‹•็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใƒฌใƒ ็ก็œ ใฎๆธ›ๅฐ‘ใ‚„ๆฌ ๅฆ‚ใซใ‚ˆใ‚‹็ก็œ ้šœๅฎณใ‚’่ชใ‚ใ‚‹ๆ‚ฃ่€…ใ‚‚ใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200716NANDO:1200687
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/202-201704-kojin.pdf
rdfs:label - "PR3-ANCAย positiveย rapidly progressive glomerulonephritis" + "Smith-Magenis syndrome" @en
rdfs:label - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰" + "ใ™ใฟใ™ใƒปใพใŽใซใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.dochttp://nanbyodata.jp/ontology/NANDO_2200954
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/74http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1412
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01791
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157219.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4853
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200714http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008434
skos:prefLabel - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰" + "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200717 +
http://nanbyodata.jp/ontology/NANDO_1200688 (rdf:type owl:Class @@ -56147,60 +65809,99 @@

hasNotificationNumber220hasNotificationNumber203
+ dcterms:description + "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พคใฏใ€ๆ‚ฃ่€…ใฎ80๏ผ…ใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€่ƒธ่…บ็™บ้”้…ๅปถใƒป็„กๅฝขๆˆใซใ‚ˆใ‚‹ๅ…็–ซไฝŽไธ‹ใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใƒป่ปŸๅฃ่“‹้–‰้Ž–ไธๅ…จใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚4,000๏ฝž5,000ไบบใซ๏ผ‘ไบบใฎ้ ปๅบฆใง็™บ็”Ÿใ™ใ‚‹ๅธŒใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“22q11.2ใฎๅพฎ็ดฐๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œ็ด„30ๅ€‹ไปฅไธŠใฎ้บไผๅญใŒๆฌ ๅคฑใ—ใฆใ„ใ‚‹ใŒใ€ๆœชใ ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒ็–พๆ‚ฃใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€่‚บๅ‹•่„ˆๅผๆฌ ๆใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธป่ฆไฝ“่‚บๅดๅ‰ฏๅ‹•่„ˆใฎๅˆไฝตใชใฉใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ใŒใ—ใฐใ—ใฐๅ›ฐ้›ฃใงใ€ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚‹ๆญปไบกไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅˆไฝตใ™ใ‚‹ๅ…็–ซไฝŽไธ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่‚บ้ซ˜่ก€ๅœงใชใฉใซใ‚ˆใ‚Šๆ‰‹่ก“ๆญปไบกใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€ๆœชใ ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใฏๆœช็ขบ็ซ‹ใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏใŸใจใˆ็”Ÿๅญ˜ใ—ใฆใ‚‚ใ€็™บ้”้…ๅปถใ‚„็ฒพ็ฅž็–พๆ‚ฃใ€็ตฑๅˆๅคฑ่ชฟ็—‡ใชใฉใซใ‚ˆใ‚‹็”Ÿๆดป้ขใฎ้•ทๆœŸใซใ‚ใŸใ‚‹ๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚" + @ja
dcterms:identifier1200717NANDO:1200688
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/203-201704-kojin.pdf
rdfs:label - "Anti-GBM rapidly progressive glomerulonephritis" + "22q11.2 deletion syndrome" @en
rdfs:label - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰" + "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
+ rdfs:label + "22ใใ‚…ใƒผ11.2ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.dochttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1538
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/74http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1614
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157259.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5317
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200714http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008564
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008644
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018923
skos:prefLabel - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰" + "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200718 +
http://nanbyodata.jp/ontology/NANDO_1200689 (rdf:type owl:Class @@ -56208,89 +65909,89 @@

hasNotificationNumber221hasNotificationNumber204
dcterms:description - "่ก€ๆธ…ไธญๅˆใฏ่…Ž็ณธ็ƒไฝ“ใซๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œๆŠ—ไฝ“ใ‚’่ชใ‚ใ€ๅ…ธๅž‹ไพ‹ใงใฏ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒใŠใ“ใ‚Šใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ™ใ‚‹ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‡บ่ก€ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Šใ€่…ŽไบˆๅพŒใ€็”Ÿๅ‘ฝไบˆๅพŒใจใ‚‚ไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎ็ฎก็†ๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พคใฏ็‰น็•ฐ้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅฐ้กŽ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚22็•ช้Žๅ‰ฐๆดพ็”ŸๆŸ“่‰ฒไฝ“็—‡ๅ€™็พคใ€11/22ๆททๅˆใƒˆใƒชใ‚ฝใƒŸใƒผใชใฉใจใ‚‚ๅ‘ผใฐใ‚ŒใฆใŠใ‚Šใ€ๆŸ“่‰ฒไฝ“่ปขๅบงt(11;22)ใซ็”ฑๆฅใ™ใ‚‹22็•ชๆดพ็”ŸๆŸ“่‰ฒไฝ“ใ‚’47ๆœฌ็›ฎใฎๆŸ“่‰ฒไฝ“ใจใ—ใฆ้Žๅ‰ฐใซๆŒใคใ“ใจใŒๆœฌ็–พๆ‚ฃใฎๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฎๅˆ†ๅญ้บไผๅญฆ็ ”็ฉถใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆœฌ็–พๆ‚ฃใฎ็™บ็”Ÿ้ ปๅบฆใŒไบˆๆƒณๅค–ใซ้ซ˜ใ„ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚" @ja
dcterms:identifier1200718NANDO:1200689
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/221-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/204-201704-kojin.pdf
rdfs:label - "Anti-GBM Nephritis" + "Emanuel syndrome" @en
rdfs:label - "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" + "ใˆใพใฌใˆใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2292http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4865
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01721https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01790
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198079.dochttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157149.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4378https://www.nanbyou.or.jp/entry/4609
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007
- skos:altLabel - "Anti-glomerular basement membrane disease" - @enhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009303http://purl.obolibrary.org/obo/MONDO_0012176
skos:prefLabel - "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" + "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200719 +
http://nanbyodata.jp/ontology/NANDO_1200690 (rdf:type owl:Class @@ -56298,67 +65999,96 @@

hasNotificationNumber222hasNotificationNumber205
dcterms:description - "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏๅคง้‡ใฎ็ณธ็ƒไฝ“ๆ€ง่›‹็™ฝๅฐฟใ‚’ๆฅใ—ใ€ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚„ๆตฎ่…ซใŒๅ‡บ็พใ™ใ‚‹่…Ž็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆˆไบบใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ่จบๆ–ญๅŸบๆบ–ใฏใ€ๅฐฟ่›‹็™ฝ3.5๏ฝ‡/ๆ—ฅไปฅไธŠ๏ผˆ้šๆ™‚ๅฐฟใซใŠใ„ใฆๅฐฟ่›‹็™ฝ๏ผๅฐฟใ‚ฏใƒฌใ‚ขใƒใƒ‹ใƒณๆฏ”ใŒ3.5g/gCrไปฅไธŠใฎๅ ดๅˆใ‚‚ใ“ใ‚Œใซๆบ–ใšใ‚‹๏ผ‰ใŒ็ถ™็ถšใ—ใ€่ก€ๆธ…ใ‚ขใƒซใƒ–ใƒŸใƒณๅ€คใŒ3.0g/dLไปฅไธ‹ใซไฝŽไธ‹ใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๅŽŸๅ› ็–พๆ‚ฃใŒใ‚ใ‚‹ใ‚‚ใฎใŒไบŒๆฌกๆ€งใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ใ‚‚ใฎใŒไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใชใŠใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPGN๏ผ‰ใซใคใ„ใฆใฏใ€ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎๆฆ‚่ฆใ‚‚ๅ‚็…งใ™ใ‚‹ใ“ใจใ€‚" + "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚" @ja
dcterms:identifier1200719NANDO:1200690
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/205-201704-kojin.pdf
rdfs:label - "Primary nephrotic syndrome" + "Fragile X syndrome related diseases" @en
rdfs:label - "ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6805
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4516https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01731
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157221.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4615
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "Fragile X-associated tremor/ataxia syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010382
skos:prefLabel - "ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200720 +
http://nanbyodata.jp/ontology/NANDO_1200691 (rdf:type owl:Class @@ -56366,72 +66096,84 @@

hasNotificationNumber222hasNotificationNumber205
dcterms:identifier1200720NANDO:1200691
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/205-201704-kojin.pdf
rdfs:label - "Minimal change nephrotic syndrome" + "Fragile X tremor/ataxia syndrome" @en
rdfs:label - "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใšใ„ใฏใ‚“ใ—ใ‚“ใ›ใ‚“/ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6805
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4516https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157221.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4615
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200719http://nanbyodata.jp/ontology/NANDO_1200690
skos:altLabel - "MCNS" + "FXTAS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006835http://purl.obolibrary.org/obo/MONDO_0010382
skos:prefLabel - "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200721 +
http://nanbyodata.jp/ontology/NANDO_1200692 (rdf:type owl:Class @@ -56439,65 +66181,94 @@

hasNotificationNumber222hasNotificationNumber206
+ dcterms:description + "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200721NANDO:1200692
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/206-201704-kojin.pdf
rdfs:label - "Membranous nephropathy" + "Fragile X syndrome" @en
rdfs:label - "่†œๆ€ง่…Ž็—‡" + "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่„†ๅผฑX็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docxhttp://nanbyodata.jp/ontology/NANDO_2200840
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4516http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6806
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00465
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157220.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4612
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200719http://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005376http://purl.obolibrary.org/obo/MONDO_0010383
skos:prefLabel - "่†œๆ€ง่…Ž็—‡" + "่„†ๅผฑX็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - - - - - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200722 +
http://nanbyodata.jp/ontology/NANDO_1200693 (rdf:type owl:Class @@ -56505,77 +66276,84 @@

hasNotificationNumber222hasNotificationNumber207
+ dcterms:description + "ๅคงใใชๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๆœ‰ใ—ใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ๅ˜ไธ€ใฎๅ‹•่„ˆใซ่ก€ๆถฒใ‚’้ง†ๅ‡บใ™ใ‚‹ใ“ใจใงใ€ๅคงๅ‹•่„ˆใ€่‚บๅ‹•่„ˆๅŠใณๅ† ๅ‹•่„ˆใซ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ไผดใ†่‚บ่ก€ๆตๅข—ๅคšใจใ€็ทๅ‹•่„ˆๅนนๅผๅฝขๆˆไธๅ…จใซใ‚ˆใ‚‹ๅผ้€†ๆตใซใ‚ˆใ‚Šใ€ๅ‡บ็”ŸๅพŒใŸใ ใกใซๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ€€Collett and Edwardsใฎๅˆ†้กž" + @ja
dcterms:identifier1200722NANDO:1200693
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdf
rdfs:label - "Focal segmental glomerulosclerosis" + "Truncus arteriosus communis" @en
rdfs:label - "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" + "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00626http://nanbyodata.jp/ontology/NANDO_2200261
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01736
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4516
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200719https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docx
- skos:altLabel - "FSGS" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4895
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005363 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100005
skos:prefLabel - "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - - + +
http://nanbyodata.jp/ontology/nando#1200723 +
http://nanbyodata.jp/ontology/NANDO_1200694 (rdf:type owl:Class @@ -56583,70 +66361,74 @@

hasNotificationNumber222hasNotificationNumber207
dcterms:identifier1200723NANDO:1200694
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdf
rdfs:label - "Crescentic Glomerulonephritis" + "Truncus arteriosus communis type I" @en
rdfs:label - "ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡โ… ๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4516https://www.nanbyou.or.jp/entry/4895
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200719
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001645http://nanbyodata.jp/ontology/NANDO_1200693
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017236 + skos:altLabel + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰" + @ja
skos:prefLabel - "ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡โ… ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200724 +
http://nanbyodata.jp/ontology/NANDO_1200695 (rdf:type owl:Class @@ -56654,60 +66436,74 @@

hasNotificationNumber222hasNotificationNumber207
dcterms:identifier1200724NANDO:1200695
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdf
rdfs:label - "Endocapillary proliferative glomerulonephritis" + "Truncus arteriosus communis type II" @en
rdfs:label - "็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4516https://www.nanbyou.or.jp/entry/4895
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200719http://nanbyodata.jp/ontology/NANDO_1200693
+ skos:altLabel + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰" + @ja
skos:prefLabel - "็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200725 +
http://nanbyodata.jp/ontology/NANDO_1200696 (rdf:type owl:Class @@ -56715,79 +66511,74 @@

hasNotificationNumber223
- dcterms:description - "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏใ€ๅ…‰ๅญฆ้ก•ๅพฎ้กๆ‰€่ฆ‹ใง็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽš๏ผˆๅŸบๅบ•่†œไบŒ้‡ๅŒ–๏ผ‰ใจๅˆ†่‘‰็Šถใฎ็ดฐ่ƒžๅข—ๆฎ–็—…ๅค‰ใจใ„ใฃใŸ็‰นๅพด็š„ใช็ต„็น”็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ใใฎๅฝขๆ…‹ใ‚ˆใ‚ŠIๅž‹ใ€IIๅž‹๏ผˆ็พๅœจใฎใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…๏ผ‰ใ€IIIๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€็„ก็—‡ๅ€™ๆ€งใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž็‚Žใ€ๆ…ขๆ€ง่…Ž็‚Žใ‚ใ‚‹ใ„ใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใง็™บ็—‡ใ—ใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ไธ€ๆฌกๆ€งใจ็จฎใ€…ใฎๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใ‚„ๆ„ŸๆŸ“็—‡ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ€ๆฌกๆ€งใฏใ€๏ผ˜๏ฝž30ๆญณไปฃใฎ่‹ฅๅนดๅฑคใ‚’ไธปใจใ—ใ€ใใ‚Œไปฅ้™ใฏใ€ไบŒๆฌกๆ€งใŒไธปใงใ‚ใ‚‹ใ€‚ใพใŸใ€้บไผ็š„่ฆๅ› ใซใ‚ˆใ‚‹่ฃœไฝ“็ตŒ่ทฏใฎ่ชฟ็ฏ€็•ฐๅธธใซใ‚ˆใฃใฆ้กžไผผ็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚" - @jahasNotificationNumber207
dcterms:identifier1200725NANDO:1200696
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdf
rdfs:label - "Primary membranoproliferative glomerulonephritis" + "Truncus arteriosus communis type III" @en
rdfs:label - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIIๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.nanbyou.or.jp/entry/4895
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1200693
skos:altLabel - "ๅ‚ๅฃๅˆ†้กž๏ผˆhttps://www.jstage.jst.go.jp/article/jpnjnephrol1959/26/6/26_6_671/_pdf/-char/ja๏ผ‰" + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018904
skos:prefLabel - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIIๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200726 +
http://nanbyodata.jp/ontology/NANDO_1200697 (rdf:type owl:Class @@ -56795,60 +66586,74 @@

hasNotificationNumber223hasNotificationNumber207
dcterms:identifier1200726NANDO:1200697
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/207-201704-kojin.pdf
rdfs:label - "MPGN typeโ… " + "Truncus arteriosus communis type IV" @en
rdfs:label - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹" + "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IVๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157235.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.nanbyou.or.jp/entry/4895
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200725http://nanbyodata.jp/ontology/NANDO_1200693
+ skos:altLabel + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰" + @ja
skos:prefLabel - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹" + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IVๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200727 +
http://nanbyodata.jp/ontology/NANDO_1200698 (rdf:type owl:Class @@ -56856,74 +66661,91 @@

hasNotificationNumber223hasNotificationNumber208
+ dcterms:description + "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200727NANDO:1200698
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/208-201704-kojin.pdf
rdfs:label - "mesangial proliferative GN,slight" + "Corrected Transposition of Great Arteries" @en
rdfs:label - "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01786
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157209.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4474
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1100005
skos:altLabel - "post MPGN" + "Corrected transposition of the great arteries" @en
- skos:altLabel - "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž 1aๅž‹" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019443
skos:prefLabel - "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200728 +
http://nanbyodata.jp/ontology/NANDO_1200699 (rdf:type owl:Class @@ -56931,74 +66753,96 @@

hasNotificationNumber223hasNotificationNumber209
+ dcterms:description + "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200728NANDO:1200699
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdf
rdfs:label - "mesangial proliferative GN,moderate" + "Complete transposition of the great arteries" @en
rdfs:label - "ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200258
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00550
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4477
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1100005
skos:altLabel - "pre MPGN" + "Complete TGA" @en
- skos:altLabel - "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž 1bๅž‹" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016301
skos:prefLabel - "ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200729 +
http://nanbyodata.jp/ontology/NANDO_1200700 (rdf:type owl:Class @@ -57006,60 +66850,74 @@

hasNotificationNumber223hasNotificationNumber209
dcterms:identifier1200729NANDO:1200700
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,chronic,focal" + "Complete transposition of the great arteries (Group1)" @en
rdfs:label - "ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡โ… ๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.nanbyou.or.jp/entry/4477
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1200699
+ skos:altLabel + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰" + @ja
skos:prefLabel - "ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡โ… ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200730 +
http://nanbyodata.jp/ontology/NANDO_1200701 (rdf:type owl:Class @@ -57067,60 +66925,79 @@

hasNotificationNumber223hasNotificationNumber209
dcterms:identifier1200730NANDO:1200701
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,acute,focal" + "Complete transposition of the great arteries (Group2)" @en
rdfs:label - "ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.nanbyou.or.jp/entry/4477
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1200699
+ skos:altLabel + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016301
skos:prefLabel - "ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200731 +
http://nanbyodata.jp/ontology/NANDO_1200702 (rdf:type owl:Class @@ -57128,60 +67005,74 @@

hasNotificationNumber223hasNotificationNumber209
dcterms:identifier1200731NANDO:1200702
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,chronic diffuse,slight" + "Complete transposition of the great arteries (Group3)" @en
rdfs:label - "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4aๅž‹" + "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIIๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.nanbyou.or.jp/entry/4477
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1200699
+ skos:altLabel + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰" + @ja
skos:prefLabel - "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4aๅž‹" + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIIๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200732 +
http://nanbyodata.jp/ontology/NANDO_1200703 (rdf:type owl:Class @@ -57189,60 +67080,79 @@

hasNotificationNumber223hasNotificationNumber209
dcterms:identifier1200732NANDO:1200703
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/209-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,chronic diffuse,non-lobular" + "Complete transposition of the great arteries (Group4)" @en
rdfs:label - "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4bๅž‹" + "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IVๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157166.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.nanbyou.or.jp/entry/4477
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1200699
+ skos:altLabel + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016301
skos:prefLabel - "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4bๅž‹" + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IVๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200733 +
http://nanbyodata.jp/ontology/NANDO_1200704 (rdf:type owl:Class @@ -57250,60 +67160,96 @@

hasNotificationNumber223hasNotificationNumber210
+ dcterms:description + "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200733NANDO:1200704
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/210-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,chronic diffuse,moderate" + "Single ventricle" @en
rdfs:label - "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4cๅž‹" + "ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ˜ๅฟƒๅฎค็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200250
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01787
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157245.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4369
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "Univentricular heart" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015451
skos:prefLabel - "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4cๅž‹" + "ๅ˜ๅฟƒๅฎค็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200734 +
http://nanbyodata.jp/ontology/NANDO_1200705 (rdf:type owl:Class @@ -57311,60 +67257,89 @@

hasNotificationNumber223hasNotificationNumber211
+ dcterms:description + "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200734NANDO:1200705
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/211-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,acute diffuse,endocapillary" + "Hypoplastic left heart syndrome" @en
rdfs:label - "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5aๅž‹" + "ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200249
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01272
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157201.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4373
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004933
skos:prefLabel - "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5aๅž‹" + "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200735 +
http://nanbyodata.jp/ontology/NANDO_1200706 (rdf:type owl:Class @@ -57372,121 +67347,94 @@

hasNotificationNumber223hasNotificationNumber212
+ dcterms:description + "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200735NANDO:1200706
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/212-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,acute diffuse,moderate" + "Tricuspid atresia" @en
rdfs:label - "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5bๅž‹" + "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200251
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726
- skos:prefLabel - "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5bๅž‹" - @ja
- - - - - - - - - - - - - - - - - - + - - + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200736 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber223
- dcterms:identifier1200736
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
- rdfs:label - "MPGN typeโ… ,acute diffuse,marked" - @enhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4313
- rdfs:label - "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5cๅž‹" - @ja + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01785
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157202.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.nanbyou.or.jp/entry/4481
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011514
skos:prefLabel - "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5cๅž‹" + "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200737 +
http://nanbyodata.jp/ontology/NANDO_1200707 (rdf:type owl:Class @@ -57494,60 +67442,101 @@

hasNotificationNumber223hasNotificationNumber213
+ dcterms:description + "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200737NANDO:1200707
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/213-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,lobular" + "Pulmonary Atresia with Intact Ventricular Septum" @en
rdfs:label - "ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ‚ใชใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200253
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2918
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01802
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157217.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4484
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "Pulmonary atresia without ventricular septum defect" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009931
skos:prefLabel - "ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200738 +
http://nanbyodata.jp/ontology/NANDO_1200708 (rdf:type owl:Class @@ -57555,60 +67544,101 @@

hasNotificationNumber223hasNotificationNumber214
+ dcterms:description + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200738NANDO:1200708
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/214-201704-kojin.pdf
rdfs:label - "MPGN typeโ… ,end stage" + "Pulmonary atresia with ventricular septal defect" @en
rdfs:label - "็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200252
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1324
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01803
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157216.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4876
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200726http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008343
skos:prefLabel - "็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200739 +
http://nanbyodata.jp/ontology/NANDO_1200709 (rdf:type owl:Class @@ -57616,79 +67646,101 @@

hasNotificationNumber223hasNotificationNumber215
+ dcterms:description + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200739NANDO:1200709
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/215-201704-kojin.pdf
rdfs:label - "MPGN typeโ…ก" + "Tetralogy of Fallot" @en
rdfs:label - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…กๅž‹" + "ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200254
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1513
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00549
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157279.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4741
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200725http://nanbyodata.jp/ontology/NANDO_1100005
skos:altLabel - "dense deposit disease" + "Fallot's Tetralogy" @en
- skos:altLabel - "ใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019736http://purl.obolibrary.org/obo/MONDO_0008542
skos:prefLabel - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…กๅž‹" + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200740 +
http://nanbyodata.jp/ontology/NANDO_1200710 (rdf:type owl:Class @@ -57696,60 +67748,89 @@

hasNotificationNumber223hasNotificationNumber216
+ dcterms:description + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200740NANDO:1200710
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/216-201704-kojin.pdf
rdfs:label - "MPGN typeโ…ข" + "Double outlet right ventricle" @en
rdfs:label - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…ขๅž‹" + "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docxhttp://nanbyodata.jp/ontology/NANDO_2200256
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00918
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157315.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4873
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200725http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018089
skos:prefLabel - "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…ขๅž‹" + "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200741 +
http://nanbyodata.jp/ontology/NANDO_1200711 (rdf:type owl:Class @@ -57757,72 +67838,101 @@

hasNotificationNumber224hasNotificationNumber217
dcterms:description - "่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฎไธ€็—‡็Šถใจใ—ใฆใฟใ‚‰ใ‚Œใ‚‹่…Ž็‚Žใงใ€็ดซๆ–‘็—…ใซไผดใ„ใ€็ณธ็ƒไฝ“ใซIgAใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฏใ€ๅ…็–ซๅญฆ็š„ๅๅฟœใซ่ตทๅ› ใ™ใ‚‹ๅ…จ่บซๆ€งใฎๅฐ่ก€็ฎก็‚Žใงใ€็ดซๆ–‘ใ‚’ใฏใ˜ใ‚ใจใ—ใŸ็šฎ่†š็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€้–ข็ฏ€็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใŠใ‚ˆใๅŠๆ•ฐใฎไพ‹ใŒ่…Ž็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚" + "ไธ‰ๅฐ–ๅผใฎ๏ผ‘ๆžšๅˆใฏ๏ผ’ๆžšใฎๅผๅฐ–ไป˜็€ไฝ็ฝฎใŒๅณๅฎคๅ†…ใซใšใ‚Œ่ฝใกใ‚‹ใŸใ‚ใซไธ‰ๅฐ–ๅผใฎ้–‰้Ž–ใซๆ”ฏ้šœใŒ็”Ÿใ˜ใฆ้ซ˜ๅบฆใฎ้€†ๆตใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸๅณๆˆฟๅŒ–ใ—ใŸๅณๅฎคใฎๅฟƒ็ญ‹ใฏ่ฒ่–„ๅŒ–ใ™ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผ้€†ๆตใจๅณๆˆฟๅŒ–ๅณๅฎคใฎใŸใ‚ใซๅณๆˆฟใฏ่‘—ๆ˜Žใซๆ‹กๅคงใ—ใ€ๆฉŸ่ƒฝ็š„ๅณๅฎคใฏ็‹ญๅฐๅŒ–ใ—ใ€ๆฉŸ่ƒฝ็š„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆฟๅฎคๆŽฅๅˆ้ƒจใซใŠใ‘ใ‚‹็ทš็ถญ่ผชใฎๅฝขๆˆใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ๆˆฟๅฎคๅ‰ฏไผๅฐŽ่ทฏใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚‹WPW็—‡ๅ€™็พคใฎๅˆไฝตไพ‹ใŒ็ด„20๏ฝž30๏ผ…ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200741NANDO:1200711
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/224-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/217-201704-kojin.pdf
rdfs:label - "Purpura nephritis" + "Ebstein's anomaly" @en
rdfs:label - "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" + "ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01767http://nanbyodata.jp/ontology/NANDO_2200260
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157206.dochttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2129
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4657https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01783
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157148.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4486
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "Ebstein malformation" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009144
skos:prefLabel - "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200742 +
http://nanbyodata.jp/ontology/NANDO_1200712 (rdf:type owl:Class @@ -57830,84 +67940,91 @@

hasNotificationNumber225hasNotificationNumber218
dcterms:description - "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚" + "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พคใฏ้€ฒ่กŒๆ€ง้บไผๆ€ง่…Ž็‚Žใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใŒX้€ฃ้Ž–ๅž‹้บไผๅฝขๅผใ‚’็คบใ—ใ€ใใฎ้‡็—‡ไพ‹ใงใฏ็”ทๆ€งใง10ไปฃๅพŒๅŠใ‹ใ‚‰20ไปฃๅ‰ๅŠใซๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚่‹ฅๅนด้€ๆžๅฐŽๅ…ฅใฎไธปๅ› ใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใซ้›ปๅญ้ก•ๅพฎ้กใง็‰นๅพด็š„็ถฒ็›ฎ็Šถๅค‰ๅŒ–ใ‚’่ชใ‚่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚็šฎ่†šๅŸบๅบ•่†œใ‚„็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎIVๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ่›‹็™ฝใฎ็•ฐๅธธใฎๆคœๅ‡บใŒ็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚้บไผๅญ่งฃๆžใ‚‚ๅฏ่ƒฝใงใ€็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200742NANDO:1200712
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/225-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/218-201704-kojin.pdf
rdfs:label - "Congenital nephrogenic diabetes insipidus" + "Alport's Syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡" + "ใ‚ใ‚‹ใฝใƒผใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00252https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00581
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157227.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157120.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5537https://www.nanbyou.or.jp/entry/4348
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1100007
skos:altLabel - "Nephrogenic diabetes insipidus" + "Alport syndrome" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016383http://purl.obolibrary.org/obo/MONDO_0018965
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡" + "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + + + + + + "Galloway-Mowat็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#1200743 +
http://nanbyodata.jp/ontology/NANDO_1200713 (rdf:type owl:Class @@ -57915,86 +68032,96 @@

hasNotificationNumber226hasNotificationNumber219
dcterms:description - "้–“่ณชๆ€ง่†€่ƒฑ็‚Žใจใฏใ€ใ€Œ่†€่ƒฑใฎ้ž็‰น็•ฐ็š„ใชๆ…ขๆ€ง็‚Ž็—‡ใ‚’ไผดใ„ใ€้ ปๅฐฟใƒปๅฐฟๆ„ไบข้€ฒใƒปๅฐฟๆ„ๅˆ‡่ฟซๆ„Ÿใƒป่†€่ƒฑ็—›ใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€๏ผˆ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž่จบ็™‚ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใซใ‚ˆใ‚‹๏ผ‰ใงใ‚ใ‚‹ใ€‚ใใฎ็—…ๅž‹ใฏใƒใƒณใƒŠๅž‹๏ผˆใƒใƒณใƒŠ็—…ๅค‰ใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎ๏ผ‰ใจ้žใƒใƒณใƒŠๅž‹๏ผˆๆœ‰ใ—ใชใ„ใ‚‚ใฎ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ€ใƒใƒณใƒŠๅž‹ใฏๅ†…่ฆ–้ก็š„ใซใ‚‚็—…็†ๅญฆ็š„ใซใ‚‚ๆ˜Ž็ขบใช็•ฐๅธธๆ‰€่ฆ‹ใ‚’ๆœ‰ใ—ใ€็—‡็Šถ็š„ใซใ‚‚ใ‚ˆใ‚Š้‡็—‡ใงใ‚ใ‚‹ใ€‚ไธญ้ซ˜้ฝขใฎๅฅณๆ€งใซๅคšใ„ใŒใ€็”ทๆ€งใ‚„ๅฐๅ…ใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€่†€่ƒฑ็ฒ˜่†œใฎๆฉŸ่ƒฝ้šœๅฎณใ‚„ๅ…็–ซๅญฆ็š„ๆฉŸๅบใŒๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ปๅ›žใชๆŽ’ๅฐฟใ‚„่†€่ƒฑใฎ็—›ใฟใซใ‚ˆใ‚‹่‹ฆ็—›ใ‹ใ‚‰็”Ÿๆดปใฎ่ณชใฏๅคงใใๆใชใ‚ใ‚Œใ‚‹ใ€‚็ขบ็ซ‹ใ—ใŸๆฒป็™‚ๆณ•ใฏใชใใ€ๅฏพ็—‡็š„ใชๆฒป็™‚ใซ็•™ใพใ‚‹ใ€‚ๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ—้•ทๆœŸใซใ‚ใŸใ‚‹ๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" + "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ๏ผˆGalloway-Mowat๏ผ‰็—‡ๅ€™็พคใฏใ€่…Ž็ณธ็ƒไฝ“็กฌๅŒ–็—‡(ใƒใƒ•ใƒญใƒผใ‚ผ๏ผ‰ใ€ๅฐ้ ญ็—‡(ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•้…ๆปž)ใ‚’๏ผ’ไธปๅพดใจใ—ใ€้ก”้ขใƒปๅ››่‚ขๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200743NANDO:1200713
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/226-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/219-201704-kojin.pdf
rdfs:label - "Interstitial Cystitis ๏ผˆHunner type๏ผ‰" + "Galloway-Mowat syndrome" @en
rdfs:label - "้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰" + "ใŽใ‚ƒใ‚ใ†ใ‡ใ„ใƒปใ‚‚ใ‚ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157164.docxhttp://nanbyodata.jp/ontology/NANDO_2200120
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4429https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01722
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157169.docx
- skos:altLabel - "Interstitial cystitis" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4468
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100007
skos:altLabel - "Interstitial cystitis with Hunners ulcer" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018301http://purl.obolibrary.org/obo/MONDO_0009627
skos:prefLabel - "้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰" + "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200744 +
http://nanbyodata.jp/ontology/NANDO_1200714 (rdf:type owl:Class @@ -58002,91 +68129,96 @@

hasNotificationNumber227hasNotificationNumber220
dcterms:description - "ใ‚ชใ‚นใƒฉใƒผ็—…๏ผˆ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผ‰ใฏใ€๏ผ‘๏ผŽ้ผปๅ‡บ่ก€ใ€๏ผ’๏ผŽ่ˆŒใƒปๅฃ่…”็ฒ˜่†œใƒปๆŒ‡ใƒป้ผปใฎๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€๏ผ“๏ผŽๅ†…่‡“็—…ๅค‰๏ผˆ่ƒƒ่…ธๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€่‚บใ€่‚ใ€่„ณใ€่„Š้ซ„ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ€ ๏ผ”๏ผŽๅฎถๆ—ๆญด๏ผˆ้บไผๆ€ง๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒ็”Ÿใ˜ใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ—ใฆ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚้‡็ฏคใช็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็”Ÿๅ‘ฝไบˆๅพŒใ€่…ŽไบˆๅพŒใจใ‚‚ใซไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" @ja
dcterms:identifier1200744NANDO:1200714
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/227-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdf
rdfs:label - "Osler disease" + "Rapidly progressive glomerulonephritis" @en
rdfs:label - "ใ‚ชใ‚นใƒฉใƒผ็—…" + "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00533https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01688
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157153.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4351https://www.nanbyou.or.jp/entry/74
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100007
skos:altLabel - "Hereditary hemorrhagic telangiectasia" + "crescentic glomerulonephritis" @en
- skos:altLabel - "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001645
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019180http://purl.obolibrary.org/obo/MONDO_0017236
skos:prefLabel - "ใ‚ชใ‚นใƒฉใƒผ็—…" + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใˆใ‚€ใดใƒผใŠใƒผ-ใˆใƒผใˆใฌใ—ใƒผใˆใƒผใ‚ˆใ†ใ›ใ„๏ผ‰" + @ja-Hira - - + + - + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200745 +
http://nanbyodata.jp/ontology/NANDO_1200715 (rdf:type owl:Class @@ -58094,84 +68226,74 @@

hasNotificationNumber228
- dcterms:description - "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Žใฏใ€็‰น็™บๆ€งใ‚‚ใ—ใใฏๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚Šๆœซๆขขๆฐ—้“ใงใ‚ใ‚‹็ดฐๆฐ—็ฎกๆ”ฏใฎไธๅฏ้€†็š„้–‰ๅกžใ‚’ๆฅใ™ใ“ใจใซใ‚ˆใ‚Šๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber220
dcterms:identifier1200745NANDO:1200715
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/228-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdf
rdfs:label - "Bronchiolitis obliterans" + "MPO-ANCA positive rapidly progressive glomerulonephritis" @en
rdfs:label - "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01873 + rdfs:label + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157288.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4720https://www.nanbyou.or.jp/entry/74
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1200714
skos:altLabel - "Obliterating bronchiolitis" + "MPO-ANCA associated crescentic glomerulonephritis" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015265
skos:prefLabel - "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใดใƒผใ‚ใƒผใ‚‹3-ใˆใƒผใˆใฌใ—ใƒผใˆใƒผใ‚ˆใ†ใ›ใ„๏ผ‰" + @ja-Hira - - + + - + - + - - - - - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200746 +
http://nanbyodata.jp/ontology/NANDO_1200716 (rdf:type owl:Class @@ -58179,96 +68301,67 @@

hasNotificationNumber229
- dcterms:description - "่‚บ่ƒž่›‹็™ฝ็—‡๏ผˆPAP๏ผ‰ใฏ1958ๅนดRosenใ‚‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€ๆˆ‘ใŒๅ›ฝใงใฏ1960ๅนดๅฒกใ‚‰ใซใ‚ˆใฃใฆ็ดนไป‹ใ•ใ‚ŒใŸ็จ€ๅฐ‘่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ่ƒž่›‹็™ฝ็—‡ใฏใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆใฎ็”Ÿๆˆๅˆใฏๅˆ†่งฃ้Ž็จ‹้šœๅฎณใซใ‚ˆใ‚Š่‚บ่ƒž่…”ๅ†…ใ‚’ไธปใจใ—ใฆๆœซๆขขๆฐ—่…”ๅ†…ใซใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆ็”ฑๆฅ็‰ฉ่ณชใงใ‚ใ‚‹ๅฅฝ้…ธๆ€งใฎ้ก†็ฒ’็Šถใฎ่›‹็™ฝๆง˜็‰ฉ่ณชใฎ็•ฐๅธธ่ฒฏ็•™ใ‚’ๆฅใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆŒ‡ๅฎš้›ฃ็—…ใฏใ€่‡ชๅทฑๅ…็–ซๆ€งPAPใจๅ…ˆๅคฉๆ€งPAPใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber220
dcterms:identifier1200746NANDO:1200716
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdf
rdfs:label - "pulmonary alveolar proteinosis" + "PR3-ANCA positive rapidly progressive glomerulonephritis" @en
rdfs:label - "่‚บ่ƒž่›‹็™ฝ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00217 + rdfs:label + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4774https://www.nanbyou.or.jp/entry/74
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010
- skos:altLabel - "Congenital pulmonary alveolar proteinosis" - @en
- skos:altLabel - "Hereditary pulmonary alveolar proteinosis" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001437
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012580http://nanbyodata.jp/ontology/NANDO_1200714
skos:prefLabel - "่‚บ่ƒž่›‹็™ฝ็—‡" + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200747 +
http://nanbyodata.jp/ontology/NANDO_1200717 (rdf:type owl:Class @@ -58276,65 +68369,82 @@

hasNotificationNumber229hasNotificationNumber220
dcterms:identifier1200747NANDO:1200717
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/220-201704-kojin.pdf
rdfs:label - "Autoimmune pulmonary alveolar proteinosis" + "Anti-GBM rapidly progressive glomerulonephritis" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ“ใ†ใ˜ใƒผใณใƒผใˆใ‚€ใ“ใ†ใŸใ„ใ‚ˆใ†ใ›ใ„๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2292
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4774https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198078.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/74
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200746http://nanbyodata.jp/ontology/NANDO_1200714
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012579http://purl.obolibrary.org/obo/MONDO_0003136
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009303
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200748 +
http://nanbyodata.jp/ontology/NANDO_1200718 (rdf:type owl:Class @@ -58342,65 +68452,115 @@

hasNotificationNumber229hasNotificationNumber221
+ dcterms:description + "่ก€ๆธ…ไธญๅˆใฏ่…Ž็ณธ็ƒไฝ“ใซๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œๆŠ—ไฝ“ใ‚’่ชใ‚ใ€ๅ…ธๅž‹ไพ‹ใงใฏ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒใŠใ“ใ‚Šใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ™ใ‚‹ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‡บ่ก€ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Šใ€่…ŽไบˆๅพŒใ€็”Ÿๅ‘ฝไบˆๅพŒใจใ‚‚ไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎ็ฎก็†ๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200748NANDO:1200718
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/221-201704-kojin.pdf
rdfs:label - "Idiopathic pulmonary alveolar proteinosis" + "Goodpasture syndrome" @en
rdfs:label - "็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ใ“ใ†ใ—ใใ‚…ใ†ใŸใ„ใใฆใ„ใพใใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docxhttp://nanbyodata.jp/ontology/NANDO_2200125
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4774http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2292
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01721
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198079.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4378
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200746http://nanbyodata.jp/ontology/NANDO_1100007
+ skos:altLabel + "Anti-GBM Nephritis" + @en
+ skos:altLabel + "Anti-glomerular basement membrane disease" + @en
+ skos:altLabel + "ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012579http://purl.obolibrary.org/obo/MONDO_0009303
skos:prefLabel - "็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200749 +
http://nanbyodata.jp/ontology/NANDO_1200719 (rdf:type owl:Class @@ -58408,65 +68568,79 @@

hasNotificationNumber229hasNotificationNumber222
+ dcterms:description + "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏๅคง้‡ใฎ็ณธ็ƒไฝ“ๆ€ง่›‹็™ฝๅฐฟใ‚’ๆฅใ—ใ€ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚„ๆตฎ่…ซใŒๅ‡บ็พใ™ใ‚‹่…Ž็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆˆไบบใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ่จบๆ–ญๅŸบๆบ–ใฏใ€ๅฐฟ่›‹็™ฝ3.5๏ฝ‡/ๆ—ฅไปฅไธŠ๏ผˆ้šๆ™‚ๅฐฟใซใŠใ„ใฆๅฐฟ่›‹็™ฝ๏ผๅฐฟใ‚ฏใƒฌใ‚ขใƒใƒ‹ใƒณๆฏ”ใŒ3.5g/gCrไปฅไธŠใฎๅ ดๅˆใ‚‚ใ“ใ‚Œใซๆบ–ใšใ‚‹๏ผ‰ใŒ็ถ™็ถšใ—ใ€่ก€ๆธ…ใ‚ขใƒซใƒ–ใƒŸใƒณๅ€คใŒ3.0g/dLไปฅไธ‹ใซไฝŽไธ‹ใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๅŽŸๅ› ็–พๆ‚ฃใŒใ‚ใ‚‹ใ‚‚ใฎใŒไบŒๆฌกๆ€งใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ใ‚‚ใฎใŒไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใชใŠใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPGN๏ผ‰ใซใคใ„ใฆใฏใ€ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎๆฆ‚่ฆใ‚‚ๅ‚็…งใ™ใ‚‹ใ“ใจใ€‚" + @ja
dcterms:identifier1200749NANDO:1200719
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdf
rdfs:label - "Secondary Pulmonary Alveolar Proteinosis" + "Primary nephrotic syndrome" @en
rdfs:label - "็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ใ„ใกใ˜ใ›ใ„ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4774https://www.nanbyou.or.jp/entry/4516
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200746http://nanbyodata.jp/ontology/NANDO_1100007
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018483http://purl.obolibrary.org/obo/MONDO_0018170
skos:prefLabel - "็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200750 +
http://nanbyodata.jp/ontology/NANDO_1200720 (rdf:type owl:Class @@ -58474,77 +68648,84 @@

hasNotificationNumber229hasNotificationNumber222
dcterms:identifier1200750NANDO:1200720
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdf
rdfs:label - "Congenital pulmonary alveolar proteinosis" + "Minimal change nephrotic syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ใณใ—ใ‚‡ใ†ใธใ‚“ใ‹ใŒใŸใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01122http://nanbyodata.jp/ontology/NANDO_2200112
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4774https://www.nanbyou.or.jp/entry/4516
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200746http://nanbyodata.jp/ontology/NANDO_1200719
skos:altLabel - "Hereditary pulmonary alveolar proteinosis" + "MCNS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012580http://purl.obolibrary.org/obo/MONDO_0006835
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200751 +
http://nanbyodata.jp/ontology/NANDO_1200721 (rdf:type owl:Class @@ -58552,89 +68733,77 @@

hasNotificationNumber230
- dcterms:description - "็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—้šœๅฎณ๏ผˆsleep related hypoventilation disorders๏ผ‰ใซใฏไปฅไธ‹ใฎ๏ผ–็—…ๆ…‹ใŒๅซใพใ‚Œใ‚‹ใ€‚โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘กๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital central hypoventilation syndrome: CCHS๏ผ‰ใ€โ‘ข่ฆ–ๅบŠไธ‹้ƒจๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้…็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—ใ€โ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘ค่–ฌๅ‰คใ‚„็‰ฉ่ณชใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€โ‘ฅ่บซไฝ“้šœๅฎณใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€‚ใ“ใ‚Œใ‚‰ใฎไธญใงใ€โ‘ขใ€โ‘คใ€โ‘ฅใ‚’้™คๅค–ใ—ใ€โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎไธ€้ƒจ๏ผˆ่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใŒCPAPใซใ‚ˆใ‚‹ๆฒป็™‚ใงใ‚‚ๆ”นๅ–„ใ—ใชใ„ๅ ดๅˆใ‚’ใ„ใ†ใ€‚๏ผ‰ใ€โ‘กCCHSใ€ใŠใ‚ˆใณโ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใคใ„ใฆใฏใ€่‚บ่ƒžไฝŽๆ›ๆฐ—ใฎไธปใŸใ‚‹็—…ๆ…‹ใจใ—ใฆๅ‘ผๅธ่ชฟ็ฏ€็ณปใฎ็•ฐๅธธใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ‚’่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆalveolar hypoventilation syndrome:AHS๏ผ‰ใจใ™ใ‚‹ใ€‚่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใŠใ‘ใ‚‹่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่‚ฅๆบ€ใฎๅญ˜ๅœจใจใฏ้–ขไฟ‚ใ—ใชใ„ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏๆง˜ใ€…ใช็—…ๆ…‹ใง่ตทใ“ใ‚Šๅพ—ใ‚‹ใฎใงใ€ไบŒๆฌกๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎ้‘‘ๅˆฅใ‚’ใ—ใฆใ€AHSใฎ่จบๆ–ญใ‚’ใ™ใ‚‹ใ€‚้›ฃๆฒปๆ€ง็จ€ๅฐ‘ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็™บ็—‡ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ๅ‘ผๅธไธญๆžขๆฉŸ่ƒฝ็•ฐๅธธใซ้–ขไฟ‚ใ—ใŸ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—๏ผˆ่ฆš้†’ใ‹ใ‚‰็ก็œ ใซใชใ‚‹ใจๅ‘ผๅธ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚๏ผ‰ใ€ๅ‘ผๅธ่ชฟ็ฏ€็•ฐๅธธ๏ผˆ็„กๆ„่ญ˜ใงใฏ็”Ÿ็†ๅญฆ็š„ใซๆญฃๅธธใชๅ‘ผๅธ็Šถๆ…‹ใ‚’็ถญๆŒใงใใชใ„ใ€‚๏ผ‰ใŒ็—…ๆ…‹ใฎไธปไฝ“ใงใ‚ใ‚‹ใ€‚AHSใฏใ€ๅ‘ผๅธๅ™จใƒป่ƒธ้ƒญใƒป่‚บๆฉŸ่ƒฝไธŠใซๆ˜Žใ‚‰ใ‹ใช็•ฐๅธธใŒใชใ„ใ€ใพใŸใฏ่ปฝๅบฆใฎ็•ฐๅธธใŒใ‚ใฃใฆใ‚‚AHSใฎไธปใŸใ‚‹ๅŽŸๅ› ใจใฏ่€ƒใˆใ‚‰ใ‚Œใชใ„ใ€‚ใ™ใชใ‚ใกใ€ๅ‘ผๅธ่ชฟ็ฏ€ไธŠใฎ็•ฐๅธธใŒไธปใŸใ‚‹็—…ๆ…‹ใง็ก็œ ๆ™‚ใซ่‚บ่ƒžไฝŽๆ›ๆฐ—๏ผˆ้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใจไฝŽ้…ธ็ด ่ก€็—‡๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่ฆš้†’ไธญใ‚ˆใ‚Šใ‚‚็ก็œ ไธญใซๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚" - @jahasNotificationNumber222
dcterms:identifier1200751NANDO:1200721
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdf
rdfs:label - "Alveolar hypoventilation syndrome" + "Membranous nephropathy" @en
rdfs:label - "่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ใพใใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่†œๆ€ง่…Ž็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1729http://nanbyodata.jp/ontology/NANDO_2200114
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/172https://www.nanbyou.or.jp/entry/4516
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010
- skos:altLabel - "AHS" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008346http://nanbyodata.jp/ontology/NANDO_1200719
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008758http://purl.obolibrary.org/obo/MONDO_0005376
skos:prefLabel - "่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "่†œๆ€ง่…Ž็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200752 +
http://nanbyodata.jp/ontology/NANDO_1200722 (rdf:type owl:Class @@ -58642,92 +68811,89 @@

hasNotificationNumber230hasNotificationNumber222
dcterms:identifier1200752NANDO:1200722
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdf
rdfs:label - "obesity hypoventilation syndrome" + "Focal segmental glomerulosclerosis" @en
rdfs:label - "่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ใใ†ใ˜ใ‚‡ใ†ใถใ‚“ใ›ใคใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3389http://nanbyodata.jp/ontology/NANDO_2200113
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01715https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00626
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/172https://www.nanbyou.or.jp/entry/4516
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200751http://nanbyodata.jp/ontology/NANDO_1200719
skos:altLabel - "OHS" + "FSGS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008493
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009763
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010572http://purl.obolibrary.org/obo/MONDO_0005363
skos:prefLabel - "่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" @ja
- - + - - + + - + - + - - - - + "ใฏใ‚“ใ’ใคใŸใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200753 +
http://nanbyodata.jp/ontology/NANDO_1200723 (rdf:type owl:Class @@ -58735,82 +68901,77 @@

hasNotificationNumber230hasNotificationNumber222
dcterms:identifier1200753NANDO:1200723
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdf
rdfs:label - "Congenital central hypoventilation syndrome" + "Crescentic Glomerulonephritis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1824
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00916 + rdfs:label + "ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/172https://www.nanbyou.or.jp/entry/4516
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200751http://nanbyodata.jp/ontology/NANDO_1200719
- skos:altLabel - "CCHS" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001645
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008852http://purl.obolibrary.org/obo/MONDO_0017236
skos:prefLabel - "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200754 +
http://nanbyodata.jp/ontology/NANDO_1200724 (rdf:type owl:Class @@ -58818,60 +68979,67 @@

hasNotificationNumber230hasNotificationNumber222
dcterms:identifier1200754NANDO:1200724
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/222-201704-kojin.pdf
rdfs:label - "Idiopathic central hypoventilation syndrome" + "Endocapillary proliferative glomerulonephritis" @en
rdfs:label - "็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ใ‹ใ‚“ใชใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198080.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/172https://www.nanbyou.or.jp/entry/4516
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200751http://nanbyodata.jp/ontology/NANDO_1200719
skos:prefLabel - "็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - + - + + "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200755 +
http://nanbyodata.jp/ontology/NANDO_1200725 (rdf:type owl:Class @@ -58879,77 +69047,86 @@

hasNotificationNumber231hasNotificationNumber223
dcterms:description - "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณ๏ผˆAAT๏ผ‰ๆฌ ไน็—‡๏ผˆฮฑ1-antitrypsin deficiency๏ผšAATD๏ผ‰ใฏใ€AATใฎๆฌ ไนใซใ‚ˆใ‚Šใ€่‹ฅๅนดๆ€งใซๆ…ขๆ€ง้–‰ๅกžๆ€ง่‚บ็–พๆ‚ฃ๏ผˆChronic Obstructive Pulmonary Disease๏ผšCOPD๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฏใ€AATๆฌ ๆ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใŸใŒใ€COPD็™บ็—‡ไปฎ่ชฌใ‹ใ‚‰่€ƒๆ…ฎใ™ใ‚‹ใจใ€่‚บใฎ้˜ฒๅพกๅ› ๅญใงใ‚ใ‚‹AATใฎๆธ›ๅฐ‘ใฏCOPD็™บ็—‡็ด ๅ› ใซใชใ‚Šใ†ใ‚‹ใŸใ‚ใ€AATๆฌ ไน็—‡ใจใ™ใ‚‹ใ€‚AATDใฏใ€่ก€ๆธ…AATๆฟƒๅบฆ๏ผœ90mg/dL๏ผˆใƒใƒ•ใ‚งใƒญใƒกใƒˆใƒชใƒผๆณ•๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€่ปฝ็—‡๏ผˆ50mg/dLโ‰ฆ่ก€ๆธ…AAT๏ผœ90mg/dL๏ผ‰ใ€้‡็—‡๏ผˆ่ก€ๆธ…AAT๏ผœ50mg/dL๏ผ‰ใ€ใฎ๏ผ’ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใชใŠใ€AATD้กž็ธ่‚บ็–พๆ‚ฃใจใ—ใฆใ€่ก€ๆธ…AATใŒๆญฃๅธธ็ฏ„ๅ›ฒใงใ‚‚ใ€AATDใจ้กžไผผใ—ใŸ็—…ๆ…‹๏ผˆ55ๆญณๆœชๆบ€ใง็™บ็—‡ใ™ใ‚‹้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณ๏ผ‰ใ‚’็คบใ™็—‡ไพ‹ใŒใ‚ใ‚Šใ€AATไปฅๅค–ใฎๆœช็Ÿฅใฎ็™บ็—‡็ด ๅ› ใซใ‚ˆใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏไปŠๅพŒใฎ็ ”็ฉถ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚AATD้กž็ธ่‚บ็–พๆ‚ฃใ‚’ๅซใ‚€่‹ฅๅนด็™บ็—‡้‡็—‡COPDใฏใ€้‡ๅบฆใฎๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใ‚ใ‚Šใ€่–ฌ็‰ฉๆฒป็™‚ใซใ‚‚ไฟ‚ใ‚‰ใš45๏ผ…ใฎๆ‚ฃ่€…ใงๅœจๅฎ…้…ธ็ด ็™‚ๆณ•ใ‚’่ฆใ—ใ€ๅข—ๆ‚ชใฎ้ ปๅบฆใŒๅคšใ„ใจใ„ใ†้‡็—‡ใƒป้›ฃๆฒปๆ€งใฎ็—…ๅƒใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€AATDใฏ้€šๅธธใฎCOPDใจใฏ็•ฐใชใ‚‹็–พ็—…ใงใ‚ใ‚Šใ€ๅ–ซ็…™ใฎๅฝฑ้Ÿฟใ‚’ใใฎ็™บ็—‡่ฆๅ› ใจใ—ใฆใฏใ€ใปใผ่€ƒๆ…ฎใ‹ใ‚‰ๅค–ใ›ใ‚‹็–พ็—…ใงใ‚ใ‚‹ใ€‚" + "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏใ€ๅ…‰ๅญฆ้ก•ๅพฎ้กๆ‰€่ฆ‹ใง็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽš๏ผˆๅŸบๅบ•่†œไบŒ้‡ๅŒ–๏ผ‰ใจๅˆ†่‘‰็Šถใฎ็ดฐ่ƒžๅข—ๆฎ–็—…ๅค‰ใจใ„ใฃใŸ็‰นๅพด็š„ใช็ต„็น”็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ใใฎๅฝขๆ…‹ใ‚ˆใ‚ŠIๅž‹ใ€IIๅž‹๏ผˆ็พๅœจใฎใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…๏ผ‰ใ€IIIๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€็„ก็—‡ๅ€™ๆ€งใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž็‚Žใ€ๆ…ขๆ€ง่…Ž็‚Žใ‚ใ‚‹ใ„ใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใง็™บ็—‡ใ—ใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ไธ€ๆฌกๆ€งใจ็จฎใ€…ใฎๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใ‚„ๆ„ŸๆŸ“็—‡ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ€ๆฌกๆ€งใฏใ€๏ผ˜๏ฝž30ๆญณไปฃใฎ่‹ฅๅนดๅฑคใ‚’ไธปใจใ—ใ€ใใ‚Œไปฅ้™ใฏใ€ไบŒๆฌกๆ€งใŒไธปใงใ‚ใ‚‹ใ€‚ใพใŸใ€้บไผ็š„่ฆๅ› ใซใ‚ˆใ‚‹่ฃœไฝ“็ตŒ่ทฏใฎ่ชฟ็ฏ€็•ฐๅธธใซใ‚ˆใฃใฆ้กžไผผ็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚" @ja
dcterms:identifier1200755NANDO:1200725
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/231-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Alpha-1-antitrypsin deficiency" + "Primary membranoproliferative glomerulonephritis" @en
rdfs:label - "ฮฑ1โˆ’ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ไน็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7534 + rdfs:label + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157119.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4738https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1100007
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013282 + skos:altLabel + "Primary MPGN" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018904
skos:prefLabel - "ฮฑ1โˆ’ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ไน็—‡" + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200756 +
http://nanbyodata.jp/ontology/NANDO_1200726 (rdf:type owl:Class @@ -58957,77 +69134,84 @@

hasNotificationNumber232
- dcterms:description - "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ๏ผˆCarney่ค‡ๅˆ๏ผ‰ใฏใ€็ฒ˜ๆถฒ่…ซใ€็šฎ่†šใฎ่‰ฒ็ด ๆ–‘ใ€ๅ†…ๅˆ†ๆณŒๆฉŸ่ƒฝไบข้€ฒ็Šถๆ…‹ใ‚’ๅˆไฝตใ—ใŸ็—‡ไพ‹ใ‚’ใพใจใ‚ใ€1985ๅนดใซๅไป˜ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ใ“ใฎใ†ใก๏ผ’ใคไปฅไธŠใฎ็—‡ๅ€™ใŒใ‚ใ‚Œใฐ่‡จๅบŠ็š„ใซ่จบๆ–ญใ•ใ‚ŒใฆใใŸใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ€ๅ…ˆ็ซฏ่‚ฅๅคง็—‡ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใ€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ€ๅ†…ๅˆ†ๆณŒ่…บ่…ซ็˜ใชใฉๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใ‚‰ใ‚’ๅฅ‘ๆฉŸใจใ—ใฆ่จบๆ–ญใซ็ตใณใคใใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€ๅคš็™บๆ€ง่…ซ็˜็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber223
dcterms:identifier1200756NANDO:1200726
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/232-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Carney complex" + "Primary membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ" + "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01820http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8283
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157158.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4753https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1200725
+ skos:altLabel + "MPGN type I" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015285http://purl.obolibrary.org/obo/MONDO_0014005
skos:prefLabel - "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ" + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹" @ja
- - + - - - - - - + + - - - - - + - - - - + "ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ•ใ„ใผใ†ใ‘ใ„ใฉใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200757 +
http://nanbyodata.jp/ontology/NANDO_1200727 (rdf:type owl:Class @@ -59035,77 +69219,69 @@

hasNotificationNumber233
- dcterms:description - "่‹ฅๅนด็™บ็—‡ใฎ็ณ–ๅฐฟ็—…ใŒๅˆ็™บ็—‡็Šถใจใชใ‚Šใ€ๆฌกใ„ใง่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ‚ˆใ‚Š่ฆ–ๅŠ›้šœๅฎณใ‚’ๆฅใ™ใ€‚ใ“ใฎ๏ผ’ใคใฎ็‰นๅพด็š„ใช็—‡ๅ€™ใฎๅˆไฝตใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚ใ€€็ณ–ๅฐฟ็—…ใจ่ฆ–็ฅž็ตŒ่Ž็ธฎใซๅŠ ใˆใฆๅ†…ๅˆ†ๆณŒไปฃ่ฌ็ณปใ€็ฒพ็ฅž็ฅž็ตŒ็ณปใ‚’ๅบƒ็ฏ„ใซ้šœๅฎณใ—ใ€ๅฐฟๅดฉ็—‡ใ€้›ฃ่ดใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅคšๅฝฉใช็ฅž็ตŒใƒป็ฒพ็ฅž็—‡็Šถใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธป่ฆๅพดๅ€™ใ‚’่‹ฑ่ชžใง็พใ—ใŸใจใใฎ้ ญๆ–‡ๅญ—ใ‚’ๅ–ใฃใฆDIDMOAD็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber223
dcterms:identifier1200757
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/233-201704-kojin.pdfNANDO:1200727
rdfs:label - "Wolfram syndrome" + "Slight mesangial proliferative glomerulonephritis" @en
rdfs:label - "ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00854
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157144.docx + rdfs:label + "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4789https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1201029
+ skos:altLabel + "Mild MesPGN" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018105http://purl.obolibrary.org/obo/MONDO_0003139
skos:prefLabel - "ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค" + "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - - - - - + + - + + "ใกใ‚…ใ†ใจใ†ใฉใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ•ใ„ใผใ†ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200758 +
http://nanbyodata.jp/ontology/NANDO_1200728 (rdf:type owl:Class @@ -59113,74 +69289,69 @@

hasNotificationNumber234
- dcterms:description - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏ็ดฐ่ƒžๅ†…ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใƒปใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใใ‚Œใ‚‰ใฎใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชPEXใ‚ฟใƒณใƒ‘ใ‚ฏใฎ้บไผๅญ็•ฐๅธธ็—‡๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ๏ผ’ใคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Šๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ไปฃ่ฌ็ณปใŒ้šœๅฎณใ•ใ‚Œใ€ไธญๆžข็ฅž็ตŒ็ณปใ‚’ไธญๅฟƒใซๅฏพ่ฑกใจใชใ‚‹่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ—ใฆๅคšๅฒใซใ‚ใŸใ‚‹่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๆœ€ใ‚‚้‡็ฏคใ‹ใคใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎๆฅตๅž‹ใงใ‚ใ‚‹ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใชใฉ15ใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ“ใงใฏๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’้™คใ„ใŸใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber223
dcterms:identifier1200758NANDO:1200728
rdfs:label - "Peroxisomal Disorder" + "Moderate mesangial proliferative glomerulonephritis" @en
rdfs:label - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx + rdfs:label + "ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1201029
skos:altLabel - "Peroxisomal disease " + "Moderate MesPGN" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019053http://purl.obolibrary.org/obo/MONDO_0003139
skos:prefLabel - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" + "ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - + - + + "ใพใ‚“ใ›ใ„ใƒปใใ†ใ˜ใ‚‡ใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - - - - - + - - + +
http://nanbyodata.jp/ontology/nando#1200759 +
http://nanbyodata.jp/ontology/NANDO_1200729 (rdf:type owl:Class @@ -59188,75 +69359,74 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200759NANDO:1200729
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Peroxisome biogenesis disorders" + "Chronic focal membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00205 + rdfs:label + "ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200758
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019234http://nanbyodata.jp/ontology/NANDO_1200726
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019609 + skos:altLabel + "Chronic, focal MPGN type I" + @en
skos:prefLabel - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" + "ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200760 +
http://nanbyodata.jp/ontology/NANDO_1200730 (rdf:type owl:Class @@ -59264,65 +69434,74 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200760NANDO:1200730
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Zellweger syndrome" + "Acute focal membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค" + "ใใ‚…ใ†ใ›ใ„ใƒปใใ†ใ˜ใ‚‡ใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4423
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200759http://nanbyodata.jp/ontology/NANDO_1200726
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019609 + skos:altLabel + "Acute, focal MPGN type I" + @en
skos:prefLabel - "ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค" + "ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - - - - - + + "ใ‘ใ„ใฉใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200761 +
http://nanbyodata.jp/ontology/NANDO_1200731 (rdf:type owl:Class @@ -59330,70 +69509,69 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200761
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdfNANDO:1200731
rdfs:label - "Neonatal adrenoleukodystrophy" + "Chronic diffuse moderate membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00177 + rdfs:label + "่ปฝๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200759http://nanbyodata.jp/ontology/NANDO_1201030
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018598 + skos:altLabel + "Chronic, diffuse, moderate MPGN type I" + @en
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่ปฝๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - - - - - + + "ใฒใถใ‚“ใ‚ˆใ†ใŒใŸใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - - - - - + - - + +
http://nanbyodata.jp/ontology/nando#1200762 +
http://nanbyodata.jp/ontology/NANDO_1200732 (rdf:type owl:Class @@ -59401,75 +69579,69 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200762
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdfNANDO:1200732
rdfs:label - "Infantile Refsum disease" + "Chronic diffuse non-lobular glomerulonephritis type I" @en
rdfs:label - "ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2947 + rdfs:label + "้žๅˆ†่‘‰ๅž‹ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200759
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009959http://nanbyodata.jp/ontology/NANDO_1201030
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019174 + skos:altLabel + "Chronic, diffuse, non-lobular MPGN type I" + @en
skos:prefLabel - "ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—…" + "้žๅˆ†่‘‰ๅž‹ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - - - - - + + "ใกใ‚…ใ†ใจใ†ใฉใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - - -
http://nanbyodata.jp/ontology/nando#1200763 +
http://nanbyodata.jp/ontology/NANDO_1200733 (rdf:type owl:Class @@ -59477,77 +69649,69 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200763
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdfNANDO:1200733
rdfs:label - "Rhizomelic chondrodysplasia punctata type 1" + "Chronic diffuse moderate membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1950 + rdfs:label + "ไธญ็ญ‰ๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200759http://nanbyodata.jp/ontology/NANDO_1201030
skos:altLabel - "RCDP type 1" + "Chronic, diffuse, moderate MPGN type I" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008972
skos:prefLabel - "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹" + "ไธญ็ญ‰ๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - - - - - + + "ใ‹ใ‚“ใชใ„ใžใ†ใ—ใ‚‡ใใŒใŸใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200764 +
http://nanbyodata.jp/ontology/NANDO_1200734 (rdf:type owl:Class @@ -59555,65 +69719,69 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200764
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdfNANDO:1200734
rdfs:label - "Peroxisomal beta-oxidation enzyme deficiency" + "Acute diffuse endocapillary membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00407 + rdfs:label + "็ฎกๅ†…ๅข—ๆฎ–ๅž‹ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200758http://nanbyodata.jp/ontology/NANDO_1201031
+ skos:altLabel + "Acute, diffuse, endocapillary MPGN type I" + @en
skos:prefLabel - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡" + "็ฎกๅ†…ๅข—ๆฎ–ๅž‹ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - - - - - + + "ใกใ‚…ใ†ใจใ†ใฉใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - - - + "Acute, diffuse, moderate MPGN type I" + @en
http://nanbyodata.jp/ontology/nando#1200765 +
http://nanbyodata.jp/ontology/NANDO_1200735 (rdf:type owl:Class @@ -59621,77 +69789,69 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200765
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdfNANDO:1200735
rdfs:label - "Peroxisomal acyl-CoA oxidase deficiency" + "Acute diffuse moderate membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใ‚ฟใ‚™ใƒผใ‚ปใ‚™ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2906 + rdfs:label + "ไธญ็ญ‰ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200764http://nanbyodata.jp/ontology/NANDO_1201031
skos:altLabel - "AOXๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009919
skos:prefLabel - "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใ‚ฟใ‚™ใƒผใ‚ปใ‚™ๆฌ ๆ็—‡" + "ไธญ็ญ‰ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - - - - - + - - - - + "ใ“ใ†ใฉใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - - - + "Acute diffuse, marked MPGN type I" + @en
http://nanbyodata.jp/ontology/nando#1200766 +
http://nanbyodata.jp/ontology/NANDO_1200736 (rdf:type owl:Class @@ -59699,82 +69859,69 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200766
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdfNANDO:1200736
rdfs:label - "D-bifunctional protein deficiency" + "Acute diffuse marked membranoproliferative glomerulonephritis type I" @en
rdfs:label - "D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2839
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02098 + rdfs:label + "้ซ˜ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4424
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200764http://nanbyodata.jp/ontology/NANDO_1201031
skos:altLabel - "DBPๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009855
skos:prefLabel - "D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡" + "้ซ˜ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - + - + + "ใถใ‚“ใ‚ˆใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + + "Lobular MPGN type I" + @en - +
http://nanbyodata.jp/ontology/nando#1200767 +
http://nanbyodata.jp/ontology/NANDO_1200737 (rdf:type owl:Class @@ -59782,77 +69929,79 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200767NANDO:1200737
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Sterol carrier protein 2 deficiency" + "Lobular membranoproliferative glomerulonephritis type I" @en
rdfs:label - "ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7637 + rdfs:label + "ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4423
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200764http://nanbyodata.jp/ontology/NANDO_1200726
skos:altLabel - "SCPxๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013391http://purl.obolibrary.org/obo/MONDO_0002461
skos:prefLabel - "ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡" + "ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - + - + - - - - + "ใ—ใ‚…ใ†ใพใคใใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - + - + - - - - + "End stage MPGN type 1" + @en
http://nanbyodata.jp/ontology/nando#1200768 +
http://nanbyodata.jp/ontology/NANDO_1200738 (rdf:type owl:Class @@ -59860,82 +70009,74 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200768NANDO:1200738
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Alpha-methylacyl-CoA racemase deficiency" + "End-stage membranoproliferative glomerulonephritis type I" @en
rdfs:label - "๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7967
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02099 + rdfs:label + "็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4423
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200764http://nanbyodata.jp/ontology/NANDO_1200726
skos:altLabel - "AMACRๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013681
skos:prefLabel - "๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡" + "็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + - - + + - + - + + "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“2ใŒใŸ" + @ja-Hira - - + + - + - + - - - - - + - + - - -
http://nanbyodata.jp/ontology/nando#1200769 +
http://nanbyodata.jp/ontology/NANDO_1200739 (rdf:type owl:Class @@ -59943,131 +70084,93 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200769NANDO:1200739
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Refsum disease" + "Primary membranoproliferative glomerulonephritis type II" @en
rdfs:label - "ใƒฌใƒ•ใ‚ตใƒ ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2946 + rdfs:label + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4423
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200758
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009958http://nanbyodata.jp/ontology/NANDO_1200725
- skos:prefLabel + skos:altLabel - "ใƒฌใƒ•ใ‚ตใƒ ็—…" - @ja
- - - - - - - - - - - - - - + "Dense deposit disease" + @en - + - + - - - - - - - - - - + +
http://nanbyodata.jp/ontology/nando#1200770 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber234
- dcterms:identifier1200770
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-03-201704-kojin.pdf
- rdfs:label + skos:altLabel - "Plasmalogen biosynthesis enzyme deficiency" + "MPGN type II" @en
- rdfs:label + skos:altLabel - "ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡" + "ใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…" @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200758 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019736
skos:prefLabel - "ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡" + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1200771 +
http://nanbyodata.jp/ontology/NANDO_1200740 (rdf:type owl:Class @@ -60075,67 +70178,74 @@

hasNotificationNumber234hasNotificationNumber223
dcterms:identifier1200771NANDO:1200740
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
rdfs:label - "Rhizomelic chondrodysplasia punctata type2" + "Primary membranoproliferative glomerulonephritis type III" @en
rdfs:label - "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" + "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“3ใ‹ใŸ" + @ja-Hira
+ rdfs:label + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIIๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4423
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200770http://nanbyodata.jp/ontology/NANDO_1200725
skos:altLabel - "RCDP type2" + "MPGN type III" @en
skos:prefLabel - "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" + "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200772 +
http://nanbyodata.jp/ontology/NANDO_1200741 (rdf:type owl:Class @@ -60143,67 +70253,89 @@

hasNotificationNumber234hasNotificationNumber224
+ dcterms:description + "่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฎไธ€็—‡็Šถใจใ—ใฆใฟใ‚‰ใ‚Œใ‚‹่…Ž็‚Žใงใ€็ดซๆ–‘็—…ใซไผดใ„ใ€็ณธ็ƒไฝ“ใซIgAใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฏใ€ๅ…็–ซๅญฆ็š„ๅๅฟœใซ่ตทๅ› ใ™ใ‚‹ๅ…จ่บซๆ€งใฎๅฐ่ก€็ฎก็‚Žใงใ€็ดซๆ–‘ใ‚’ใฏใ˜ใ‚ใจใ—ใŸ็šฎ่†š็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€้–ข็ฏ€็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใŠใ‚ˆใๅŠๆ•ฐใฎไพ‹ใŒ่…Ž็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200772NANDO:1200741
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/224-201704-kojin.pdf
rdfs:label - "Rhizomelic chondrodysplasia punctata type3" + "Henoch-Schonlein purpura nephritis" @en
rdfs:label - "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹" + "ใ—ใฏใ‚“ใณใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttp://nanbyodata.jp/ontology/NANDO_2200124
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01767
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157206.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4657
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200770http://nanbyodata.jp/ontology/NANDO_1100007
- skos:altLabel - "RCDP type3" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006785
skos:prefLabel - "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹" + "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200773 +
http://nanbyodata.jp/ontology/NANDO_1200742 (rdf:type owl:Class @@ -60211,70 +70343,98 @@

hasNotificationNumber234hasNotificationNumber225
+ dcterms:description + "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier1200773NANDO:1200742
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/225-201704-kojin.pdf
rdfs:label - "Primary hyperoxaluria type 1" + "Congenital nephrogenic diabetes insipidus" @en
rdfs:label - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ˜ใ‚“ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2809https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00252
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157227.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/5537
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200758http://nanbyodata.jp/ontology/NANDO_1100007
+ skos:altLabel + "Nephrogenic diabetes insipidus" + @en
+ skos:altLabel + "้บไผๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009823http://purl.obolibrary.org/obo/MONDO_0016383
skos:prefLabel - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹" + "ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡" @ja
- - + - - + + + + + + - + - + + "ใ‹ใ‚“ใ—ใคใ›ใ„ใผใ†ใ“ใ†ใˆใ‚“(ใฏใ‚“ใชใŒใŸ)" + @ja-Hira - - + + - + - + - + + "Interstitial cystitis with Hunners ulcer" + @en - +
http://nanbyodata.jp/ontology/nando#1200774 +
http://nanbyodata.jp/ontology/NANDO_1200743 (rdf:type owl:Class @@ -60282,84 +70442,93 @@

hasNotificationNumber234hasNotificationNumber226
+ dcterms:description + "้–“่ณชๆ€ง่†€่ƒฑ็‚Žใจใฏใ€ใ€Œ่†€่ƒฑใฎ้ž็‰น็•ฐ็š„ใชๆ…ขๆ€ง็‚Ž็—‡ใ‚’ไผดใ„ใ€้ ปๅฐฟใƒปๅฐฟๆ„ไบข้€ฒใƒปๅฐฟๆ„ๅˆ‡่ฟซๆ„Ÿใƒป่†€่ƒฑ็—›ใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€๏ผˆ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž่จบ็™‚ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใซใ‚ˆใ‚‹๏ผ‰ใงใ‚ใ‚‹ใ€‚ใใฎ็—…ๅž‹ใฏใƒใƒณใƒŠๅž‹๏ผˆใƒใƒณใƒŠ็—…ๅค‰ใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎ๏ผ‰ใจ้žใƒใƒณใƒŠๅž‹๏ผˆๆœ‰ใ—ใชใ„ใ‚‚ใฎ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ€ใƒใƒณใƒŠๅž‹ใฏๅ†…่ฆ–้ก็š„ใซใ‚‚็—…็†ๅญฆ็š„ใซใ‚‚ๆ˜Ž็ขบใช็•ฐๅธธๆ‰€่ฆ‹ใ‚’ๆœ‰ใ—ใ€็—‡็Šถ็š„ใซใ‚‚ใ‚ˆใ‚Š้‡็—‡ใงใ‚ใ‚‹ใ€‚ไธญ้ซ˜้ฝขใฎๅฅณๆ€งใซๅคšใ„ใŒใ€็”ทๆ€งใ‚„ๅฐๅ…ใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€่†€่ƒฑ็ฒ˜่†œใฎๆฉŸ่ƒฝ้šœๅฎณใ‚„ๅ…็–ซๅญฆ็š„ๆฉŸๅบใŒๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ปๅ›žใชๆŽ’ๅฐฟใ‚„่†€่ƒฑใฎ็—›ใฟใซใ‚ˆใ‚‹่‹ฆ็—›ใ‹ใ‚‰็”Ÿๆดปใฎ่ณชใฏๅคงใใๆใชใ‚ใ‚Œใ‚‹ใ€‚็ขบ็ซ‹ใ—ใŸๆฒป็™‚ๆณ•ใฏใชใใ€ๅฏพ็—‡็š„ใชๆฒป็™‚ใซ็•™ใพใ‚‹ใ€‚ๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ—้•ทๆœŸใซใ‚ใŸใ‚‹ๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200774NANDO:1200743
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/226-201704-kojin.pdf
rdfs:label - "Acatalasemia" + "Interstitial cystitis (Hunner type)" @en
rdfs:label - "ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=242 + rdfs:label + "้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157164.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621https://www.nanbyou.or.jp/entry/4429
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200758http://nanbyodata.jp/ontology/NANDO_1100007
skos:altLabel - "Acatalasia" + "Interstitial cystitis" @en
skos:altLabel - "็„กใ‚ซใ‚ฟใƒฉใƒผใ‚ผ่ก€็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013571http://purl.obolibrary.org/obo/MONDO_0018301
skos:prefLabel - "ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข" + "้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200775 +
http://nanbyodata.jp/ontology/NANDO_1200744 (rdf:type owl:Class @@ -60367,89 +70536,98 @@

hasNotificationNumber235hasNotificationNumber227
dcterms:description - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆparathyroid hormone๏ผšPTH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹PTHไฝœ็”จ้šœๅฎณใ‹ใ‚‰ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚„้ซ˜ใƒชใƒณ่ก€็—‡ใŒๆƒน่ตทใ•ใ‚Œใ€ไธปใซไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅ•้กŒใจใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ใ‚ชใ‚นใƒฉใƒผ็—…๏ผˆ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผ‰ใฏใ€๏ผ‘๏ผŽ้ผปๅ‡บ่ก€ใ€๏ผ’๏ผŽ่ˆŒใƒปๅฃ่…”็ฒ˜่†œใƒปๆŒ‡ใƒป้ผปใฎๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€๏ผ“๏ผŽๅ†…่‡“็—…ๅค‰๏ผˆ่ƒƒ่…ธๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€่‚บใ€่‚ใ€่„ณใ€่„Š้ซ„ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ€ ๏ผ”๏ผŽๅฎถๆ—ๆญด๏ผˆ้บไผๆ€ง๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200775NANDO:1200744
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/235-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/227-201704-kojin.pdf
rdfs:label - "Hypoparathyroidism" + "Osler disease" @en
rdfs:label - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใŠใ™ใ‚‰ใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ชใ‚นใƒฉใƒผ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01862https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00533
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157283.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157153.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4426https://www.nanbyou.or.jp/entry/4351
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1100014
skos:altLabel - "Accessory thyroid hypergasia disease" + "Hereditary hemorrhagic telangiectasia" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001220 + skos:altLabel + "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015895http://purl.obolibrary.org/obo/MONDO_0019180
skos:prefLabel - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‚ชใ‚นใƒฉใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200776 +
http://nanbyodata.jp/ontology/NANDO_1200745 (rdf:type owl:Class @@ -60457,77 +70635,96 @@

hasNotificationNumber236hasNotificationNumber228
dcterms:description - "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Žใฏใ€็‰น็™บๆ€งใ‚‚ใ—ใใฏๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚Šๆœซๆขขๆฐ—้“ใงใ‚ใ‚‹็ดฐๆฐ—็ฎกๆ”ฏใฎไธๅฏ้€†็š„้–‰ๅกžใ‚’ๆฅใ™ใ“ใจใซใ‚ˆใ‚Šๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200776NANDO:1200745
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/236-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/228-201704-kojin.pdf
rdfs:label - "Pseudohypoparathyroidism" + "Bronchiolitis obliterans" @en
rdfs:label - "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00244http://nanbyodata.jp/ontology/NANDO_2200209
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157168.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01873
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/72https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157288.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4720
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1100010
+ skos:altLabel + "Obliterating bronchiolitis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019992http://purl.obolibrary.org/obo/MONDO_0015265
skos:prefLabel - "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200777 +
http://nanbyodata.jp/ontology/NANDO_1200746 (rdf:type owl:Class @@ -60535,81 +70732,110 @@

hasNotificationNumber237hasNotificationNumber229
dcterms:description - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆACTH๏ผ‰ไธๅฟœ็—‡ใฏใ€ๅฎถๆ—ๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…ใ‹ใ‚‰็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใงใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅŠใณๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ™ใ‚‹ใŒใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ACTHไธๅฟœ็—‡ใฏใ€็„กๆถ™็—‡๏ผˆalacrima๏ผ‰ใ€ใ‚ขใ‚ซใƒฉใ‚ทใ‚ข๏ผˆachalasia๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€Triple A็—‡ๅ€™็พค๏ผˆAllgrove็—‡ๅ€™็พค๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" + "่‚บ่ƒž่›‹็™ฝ็—‡๏ผˆPAP๏ผ‰ใฏ1958ๅนดRosenใ‚‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€ๆˆ‘ใŒๅ›ฝใงใฏ1960ๅนดๅฒกใ‚‰ใซใ‚ˆใฃใฆ็ดนไป‹ใ•ใ‚ŒใŸ็จ€ๅฐ‘่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ่ƒž่›‹็™ฝ็—‡ใฏใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆใฎ็”Ÿๆˆๅˆใฏๅˆ†่งฃ้Ž็จ‹้šœๅฎณใซใ‚ˆใ‚Š่‚บ่ƒž่…”ๅ†…ใ‚’ไธปใจใ—ใฆๆœซๆขขๆฐ—่…”ๅ†…ใซใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆ็”ฑๆฅ็‰ฉ่ณชใงใ‚ใ‚‹ๅฅฝ้…ธๆ€งใฎ้ก†็ฒ’็Šถใฎ่›‹็™ฝๆง˜็‰ฉ่ณชใฎ็•ฐๅธธ่ฒฏ็•™ใ‚’ๆฅใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆŒ‡ๅฎš้›ฃ็—…ใฏใ€่‡ชๅทฑๅ…็–ซๆ€งPAPใจๅ…ˆๅคฉๆ€งPAPใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200777NANDO:1200746
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/237-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdf
rdfs:label - "Adrenocorticotropic Hormone Insensitivity" + "pulmonary alveolar proteinosis" @en
rdfs:label - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บ่ƒž่›‹็™ฝ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157285.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00217
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4357https://www.nanbyou.or.jp/entry/4774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009http://nanbyodata.jp/ontology/NANDO_1100010
skos:altLabel - "ACTH unresponsiveness" + "Congenital pulmonary alveolar proteinosis" @en
skos:altLabel - "Adrenocorticotropic hormone unresponsiveness" + "Hereditary pulmonary alveolar proteinosis" + @en
+ skos:altLabel + "PAP" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001437
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012580
skos:prefLabel - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "่‚บ่ƒž่›‹็™ฝ็—‡" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200778 +
http://nanbyodata.jp/ontology/NANDO_1200747 (rdf:type owl:Class @@ -60617,69 +70843,72 @@

hasNotificationNumber238
- dcterms:description - "ๅˆฅๅใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจๅ‘ผใฐใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆˆ้•ท่ปŸ้ชจๅธฏ้–‰้Ž–ไปฅๅ‰ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ใใ‚‹็—…ใจๅ‘ผใ‚“ใงใ„ใ‚‹ใ€‚ใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใฏใ€้ชจ็Ÿณ็ฐๅŒ–้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธ‹่จ˜ใฎ็—‡็Šถใซใ‚ˆใ‚Šใ€็ฝนๆ‚ฃๆ‚ฃ่€…ใฎQOLใ‚’้‡ๅบฆใซ้šœๅฎณใ—ใ†ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณDๆฌ ไนๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจใฏ็•ฐใชใ‚Šใ€ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซใ‚ˆใ‚ŠๅฎŒๆฒปใ—ใชใ„ใ€‚" - @jahasNotificationNumber229
dcterms:identifier1200778NANDO:1200747
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdf
rdfs:label - "Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia" + "Autoimmune pulmonary alveolar proteinosis" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198083.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4558https://www.nanbyou.or.jp/entry/4774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1200746
- skos:altLabel - "Vitamin D Resistant Rickets / Osteomalacia " - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012579
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" + "่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
- - + - - + + - + - + + "ใจใใฏใคใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200779 +
http://nanbyodata.jp/ontology/NANDO_1200748 (rdf:type owl:Class @@ -60687,75 +70916,72 @@

hasNotificationNumber238hasNotificationNumber229
dcterms:identifier1200779NANDO:1200748
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/238-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdf
rdfs:label - "Vitamin D-resistant rickets" + "Idiopathic pulmonary alveolar proteinosis" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3757 + rdfs:label + "็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198083.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4558https://www.nanbyou.or.jp/entry/4774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200778
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010931http://nanbyodata.jp/ontology/NANDO_1200746
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024300http://purl.obolibrary.org/obo/MONDO_0012579
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…" + "็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200780 +
http://nanbyodata.jp/ontology/NANDO_1200749 (rdf:type owl:Class @@ -60763,60 +70989,72 @@

hasNotificationNumber238hasNotificationNumber229
dcterms:identifier1200780NANDO:1200749
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/238-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdf
rdfs:label - "Vitamin D-resistant osteomalacia" + "Secondary Pulmonary Alveolar Proteinosis" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + "ใžใใฏใคใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198083.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4558https://www.nanbyou.or.jp/entry/4774
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200778http://nanbyodata.jp/ontology/NANDO_1200746
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018483
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + "็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + - - + + - - + + + + + + - - - - - +
http://nanbyodata.jp/ontology/nando#1200781 +
http://nanbyodata.jp/ontology/NANDO_1200750 (rdf:type owl:Class @@ -60824,86 +71062,89 @@

hasNotificationNumber239
- dcterms:description - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ใฏใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใ‚‚ใ„ใ„ใ€้บไผๆ€งใซๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใ‚’็คบใ™ใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD-1ฮฑๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ๏ผˆCYP27B1๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR 1๏ผ‰ใจใ€ใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ๏ผˆVDR๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type 2๏ผšVDDR 2๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber229
dcterms:identifier1200781NANDO:1200750
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/229-201704-kojin.pdf
rdfs:label - "Vitamin D-dependent rickets" + "Congenital alveolar proteinosis" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157273.docxhttp://nanbyodata.jp/ontology/NANDO_2200200
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4561https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01122
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100009 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157266.docx
- skos:altLabel - "Vitamin D-dependent Rickets / Osteomalacia " - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4774
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200746
skos:altLabel - "Vitamin D-dependent osteomalacia" + "Hereditary pulmonary alveolar proteinosis" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005520
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024299http://purl.obolibrary.org/obo/MONDO_0012580
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" + "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200782 +
http://nanbyodata.jp/ontology/NANDO_1200751 (rdf:type owl:Class @@ -60911,65 +71152,81 @@

hasNotificationNumber239hasNotificationNumber230
+ dcterms:description + "็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—้šœๅฎณ๏ผˆsleep related hypoventilation disorders๏ผ‰ใซใฏไปฅไธ‹ใฎ๏ผ–็—…ๆ…‹ใŒๅซใพใ‚Œใ‚‹ใ€‚โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘กๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital central hypoventilation syndrome: CCHS๏ผ‰ใ€โ‘ข่ฆ–ๅบŠไธ‹้ƒจๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้…็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—ใ€โ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘ค่–ฌๅ‰คใ‚„็‰ฉ่ณชใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€โ‘ฅ่บซไฝ“้šœๅฎณใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€‚ใ“ใ‚Œใ‚‰ใฎไธญใงใ€โ‘ขใ€โ‘คใ€โ‘ฅใ‚’้™คๅค–ใ—ใ€โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎไธ€้ƒจ๏ผˆ่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใŒCPAPใซใ‚ˆใ‚‹ๆฒป็™‚ใงใ‚‚ๆ”นๅ–„ใ—ใชใ„ๅ ดๅˆใ‚’ใ„ใ†ใ€‚๏ผ‰ใ€โ‘กCCHSใ€ใŠใ‚ˆใณโ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใคใ„ใฆใฏใ€่‚บ่ƒžไฝŽๆ›ๆฐ—ใฎไธปใŸใ‚‹็—…ๆ…‹ใจใ—ใฆๅ‘ผๅธ่ชฟ็ฏ€็ณปใฎ็•ฐๅธธใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ‚’่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆalveolar hypoventilation syndrome:AHS๏ผ‰ใจใ™ใ‚‹ใ€‚่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใŠใ‘ใ‚‹่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่‚ฅๆบ€ใฎๅญ˜ๅœจใจใฏ้–ขไฟ‚ใ—ใชใ„ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏๆง˜ใ€…ใช็—…ๆ…‹ใง่ตทใ“ใ‚Šๅพ—ใ‚‹ใฎใงใ€ไบŒๆฌกๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎ้‘‘ๅˆฅใ‚’ใ—ใฆใ€AHSใฎ่จบๆ–ญใ‚’ใ™ใ‚‹ใ€‚้›ฃๆฒปๆ€ง็จ€ๅฐ‘ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็™บ็—‡ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ๅ‘ผๅธไธญๆžขๆฉŸ่ƒฝ็•ฐๅธธใซ้–ขไฟ‚ใ—ใŸ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—๏ผˆ่ฆš้†’ใ‹ใ‚‰็ก็œ ใซใชใ‚‹ใจๅ‘ผๅธ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚๏ผ‰ใ€ๅ‘ผๅธ่ชฟ็ฏ€็•ฐๅธธ๏ผˆ็„กๆ„่ญ˜ใงใฏ็”Ÿ็†ๅญฆ็š„ใซๆญฃๅธธใชๅ‘ผๅธ็Šถๆ…‹ใ‚’็ถญๆŒใงใใชใ„ใ€‚๏ผ‰ใŒ็—…ๆ…‹ใฎไธปไฝ“ใงใ‚ใ‚‹ใ€‚AHSใฏใ€ๅ‘ผๅธๅ™จใƒป่ƒธ้ƒญใƒป่‚บๆฉŸ่ƒฝไธŠใซๆ˜Žใ‚‰ใ‹ใช็•ฐๅธธใŒใชใ„ใ€ใพใŸใฏ่ปฝๅบฆใฎ็•ฐๅธธใŒใ‚ใฃใฆใ‚‚AHSใฎไธปใŸใ‚‹ๅŽŸๅ› ใจใฏ่€ƒใˆใ‚‰ใ‚Œใชใ„ใ€‚ใ™ใชใ‚ใกใ€ๅ‘ผๅธ่ชฟ็ฏ€ไธŠใฎ็•ฐๅธธใŒไธปใŸใ‚‹็—…ๆ…‹ใง็ก็œ ๆ™‚ใซ่‚บ่ƒžไฝŽๆ›ๆฐ—๏ผˆ้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใจไฝŽ้…ธ็ด ่ก€็—‡๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่ฆš้†’ไธญใ‚ˆใ‚Šใ‚‚็ก็œ ไธญใซๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200782NANDO:1200751
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/239-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdf
rdfs:label - "Vitamin D-dependent rickets, type 1" + "Alveolar hypoventilation syndrome" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹" + "ใฏใ„ใปใ†ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157273.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4561https://www.nanbyou.or.jp/entry/172
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200781http://nanbyodata.jp/ontology/NANDO_1100010
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009924 + skos:altLabel + "AHS" + @en
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹" + "่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200783 +
http://nanbyodata.jp/ontology/NANDO_1200752 (rdf:type owl:Class @@ -60977,65 +71234,89 @@

hasNotificationNumber239hasNotificationNumber230
dcterms:identifier1200783NANDO:1200752
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/239-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdf
rdfs:label - "Vitamin D-dependent rickets, type 2" + "obesity hypoventilation syndrome" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹" + "ใฒใพใ‚“ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157273.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2750
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4561https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01715
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/172
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200781http://nanbyodata.jp/ontology/NANDO_1200751
+ skos:altLabel + "OHS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019642http://purl.obolibrary.org/obo/MONDO_0009763
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹" + "่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200784 +
http://nanbyodata.jp/ontology/NANDO_1200753 (rdf:type owl:Class @@ -61043,82 +71324,94 @@

hasNotificationNumber240
- dcterms:description - "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใซไปฃ่กจใจใ•ใ‚Œใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃ็พคใฏใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚Pheใฏๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใฎใฒใจใคใงใ€ๆญฃๅธธใช่›‹็™ฝๅˆๆˆใ‚’ๅ–ถใ‚€ใŸใ‚ใซใฏไฝ“ๅค–ใ‹ใ‚‰ๆ‘‚ๅ–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ“ใฎ้ฃŸไบ‹ไธญใฎPheใฏ่›‹็™ฝๅˆๆˆใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ไปฅๅค–ใฏใ€ไธปใซPheๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใซใ‚ˆใ‚Šใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ•ใ‚ŒTyrไปฃ่ฌ็ตŒ่ทฏใงๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚Pheๆฐด้…ธๅŒ–ๅๅฟœใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใ€PheใŒ่“„็ฉใ—่ก€ไธญPheๅ€คใŒไธŠๆ˜‡ใ—ใ€ๅฐฟไธญใซใฏPheใฎใปใ‹ใใฎไปฃ่ฌ็”ฃ็‰ฉใฎใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใŒๅคง้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰PKUใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚้Žๅ‰ฐใฎPheใจใจใ‚‚ใซใ“ใ‚Œใ‚‰ใฎไปฃ่ฌ็”ฃ็‰ฉใฏๆญฃๅธธใฎไปฃ่ฌใ‚’้˜ปๅฎณใ—ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใงใฏ่„ณๆง‹็ฏ‰้šœๅฎณใซใ‚ˆใ‚‹็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไปฃ่กจใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ใŒใ€ๆˆไบบใซใŠใ„ใฆใ‚‚ใ•ใพใ–ใพใช็ฒพ็ฅž็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ—ใŸใ‚Šใ€้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใฎๆˆๅ› ใจใชใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber230
dcterms:identifier1200784NANDO:1200753
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdf
rdfs:label - "Phenylketonuria" + "Congenital central hypoventilation syndrome" @en
rdfs:label - "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844http://nanbyodata.jp/ontology/NANDO_2200198
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00167http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1824
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00916
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4747https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/172
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200751
+ skos:altLabel + "CCHS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009861http://purl.obolibrary.org/obo/MONDO_0008852
skos:prefLabel - "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" + "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "Idiopathic central hypoventilation syndrome" + @en + "ใจใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200785 +
http://nanbyodata.jp/ontology/NANDO_1200754 (rdf:type owl:Class @@ -61126,70 +71419,67 @@

hasNotificationNumber240hasNotificationNumber230
dcterms:identifier1200785NANDO:1200754
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/230-201804-kojin.pdf
rdfs:label - "PAHๆฌ ๆ็—‡" - @ja
rdfs:label - "Phenylalanine Hydroxylase Deficiency" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844 + rdfs:label + "็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198082.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4747https://www.nanbyou.or.jp/entry/172
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200784
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009861http://nanbyodata.jp/ontology/NANDO_1200751
skos:prefLabel - "PAHๆฌ ๆ็—‡" + "็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "Alpha-1-antitrypsin deficiency" + @en + "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" + @ja - - + + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200786 +
http://nanbyodata.jp/ontology/NANDO_1200755 (rdf:type owl:Class @@ -61197,135 +71487,108 @@

hasNotificationNumber240hasNotificationNumber231
+ dcterms:description + "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณ๏ผˆAAT๏ผ‰ๆฌ ไน็—‡๏ผˆฮฑ1-antitrypsin deficiency๏ผšAATD๏ผ‰ใฏใ€AATใฎๆฌ ไนใซใ‚ˆใ‚Šใ€่‹ฅๅนดๆ€งใซๆ…ขๆ€ง้–‰ๅกžๆ€ง่‚บ็–พๆ‚ฃ๏ผˆChronic Obstructive Pulmonary Disease๏ผšCOPD๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฏใ€AATๆฌ ๆ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใŸใŒใ€COPD็™บ็—‡ไปฎ่ชฌใ‹ใ‚‰่€ƒๆ…ฎใ™ใ‚‹ใจใ€่‚บใฎ้˜ฒๅพกๅ› ๅญใงใ‚ใ‚‹AATใฎๆธ›ๅฐ‘ใฏCOPD็™บ็—‡็ด ๅ› ใซใชใ‚Šใ†ใ‚‹ใŸใ‚ใ€AATๆฌ ไน็—‡ใจใ™ใ‚‹ใ€‚AATDใฏใ€่ก€ๆธ…AATๆฟƒๅบฆ๏ผœ90mg/dL๏ผˆใƒใƒ•ใ‚งใƒญใƒกใƒˆใƒชใƒผๆณ•๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€่ปฝ็—‡๏ผˆ50mg/dLโ‰ฆ่ก€ๆธ…AAT๏ผœ90mg/dL๏ผ‰ใ€้‡็—‡๏ผˆ่ก€ๆธ…AAT๏ผœ50mg/dL๏ผ‰ใ€ใฎ๏ผ’ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใชใŠใ€AATD้กž็ธ่‚บ็–พๆ‚ฃใจใ—ใฆใ€่ก€ๆธ…AATใŒๆญฃๅธธ็ฏ„ๅ›ฒใงใ‚‚ใ€AATDใจ้กžไผผใ—ใŸ็—…ๆ…‹๏ผˆ55ๆญณๆœชๆบ€ใง็™บ็—‡ใ™ใ‚‹้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณ๏ผ‰ใ‚’็คบใ™็—‡ไพ‹ใŒใ‚ใ‚Šใ€AATไปฅๅค–ใฎๆœช็Ÿฅใฎ็™บ็—‡็ด ๅ› ใซใ‚ˆใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏไปŠๅพŒใฎ็ ”็ฉถ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚AATD้กž็ธ่‚บ็–พๆ‚ฃใ‚’ๅซใ‚€่‹ฅๅนด็™บ็—‡้‡็—‡COPDใฏใ€้‡ๅบฆใฎๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใ‚ใ‚Šใ€่–ฌ็‰ฉๆฒป็™‚ใซใ‚‚ไฟ‚ใ‚‰ใš45๏ผ…ใฎๆ‚ฃ่€…ใงๅœจๅฎ…้…ธ็ด ็™‚ๆณ•ใ‚’่ฆใ—ใ€ๅข—ๆ‚ชใฎ้ ปๅบฆใŒๅคšใ„ใจใ„ใ†้‡็—‡ใƒป้›ฃๆฒปๆ€งใฎ็—…ๅƒใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€AATDใฏ้€šๅธธใฎCOPDใจใฏ็•ฐใชใ‚‹็–พ็—…ใงใ‚ใ‚Šใ€ๅ–ซ็…™ใฎๅฝฑ้Ÿฟใ‚’ใใฎ็™บ็—‡่ฆๅ› ใจใ—ใฆใฏใ€ใปใผ่€ƒๆ…ฎใ‹ใ‚‰ๅค–ใ›ใ‚‹็–พ็—…ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200786NANDO:1200755
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/231-201704-kojin.pdf
rdfs:label - "BH4ๆฌ ๆ็—‡" - @ja
rdfs:label - "Tetrahydrobiopterin deficiency" - @en
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docx + rdfs:label + "ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4747
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200784
- skos:prefLabel - "BH4ๆฌ ๆ็—‡" - @ja
- - - - - - - - - - - - - - + - - + + - - + + - + - + - + + "ฮฑ-1-antitrypsin deficiency" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200787 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber240
- dcterms:identifier1200787
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdfhttp://nanbyodata.jp/ontology/NANDO_2200611
- rdfs:label - "BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7534
- rdfs:label - "Tetrahydrobiopterin responsive hyperphenylalaninemia" - @en + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01103
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157119.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4747https://www.nanbyou.or.jp/entry/4738
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200784http://nanbyodata.jp/ontology/NANDO_1100010
skos:altLabel - "BH4- responsive hyperphenylalaninemia" + "AATD" @en
skos:altLabel - "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013282
skos:prefLabel - "BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡" + "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200788 +
http://nanbyodata.jp/ontology/NANDO_1200756 (rdf:type owl:Class @@ -61333,84 +71596,84 @@

hasNotificationNumber241hasNotificationNumber232
dcterms:description - "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ๏ผˆCarney่ค‡ๅˆ๏ผ‰ใฏใ€็ฒ˜ๆถฒ่…ซใ€็šฎ่†šใฎ่‰ฒ็ด ๆ–‘ใ€ๅ†…ๅˆ†ๆณŒๆฉŸ่ƒฝไบข้€ฒ็Šถๆ…‹ใ‚’ๅˆไฝตใ—ใŸ็—‡ไพ‹ใ‚’ใพใจใ‚ใ€1985ๅนดใซๅไป˜ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ใ“ใฎใ†ใก๏ผ’ใคไปฅไธŠใฎ็—‡ๅ€™ใŒใ‚ใ‚Œใฐ่‡จๅบŠ็š„ใซ่จบๆ–ญใ•ใ‚ŒใฆใใŸใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ€ๅ…ˆ็ซฏ่‚ฅๅคง็—‡ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใ€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ€ๅ†…ๅˆ†ๆณŒ่…บ่…ซ็˜ใชใฉๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใ‚‰ใ‚’ๅฅ‘ๆฉŸใจใ—ใฆ่จบๆ–ญใซ็ตใณใคใใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€ๅคš็™บๆ€ง่…ซ็˜็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200788NANDO:1200756
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/241-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/232-201704-kojin.pdf
rdfs:label - "Hypertyrosinemia type I" + "Carney complex" @en
rdfs:label - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹" + "ใ‹ใƒผใซใƒผใตใใ”ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3148https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01820
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157957.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157158.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4690https://www.nanbyou.or.jp/entry/4753
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:altLabel - "Tyrosinemia type 1" - @enhttp://nanbyodata.jp/ontology/NANDO_1100014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010161http://purl.obolibrary.org/obo/MONDO_0015285
skos:prefLabel - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹" + "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200789 +
http://nanbyodata.jp/ontology/NANDO_1200757 (rdf:type owl:Class @@ -61418,84 +71681,84 @@

hasNotificationNumber242hasNotificationNumber233
dcterms:description - "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "่‹ฅๅนด็™บ็—‡ใฎ็ณ–ๅฐฟ็—…ใŒๅˆ็™บ็—‡็Šถใจใชใ‚Šใ€ๆฌกใ„ใง่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ‚ˆใ‚Š่ฆ–ๅŠ›้šœๅฎณใ‚’ๆฅใ™ใ€‚ใ“ใฎ๏ผ’ใคใฎ็‰นๅพด็š„ใช็—‡ๅ€™ใฎๅˆไฝตใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚ใ€€็ณ–ๅฐฟ็—…ใจ่ฆ–็ฅž็ตŒ่Ž็ธฎใซๅŠ ใˆใฆๅ†…ๅˆ†ๆณŒไปฃ่ฌ็ณปใ€็ฒพ็ฅž็ฅž็ตŒ็ณปใ‚’ๅบƒ็ฏ„ใซ้šœๅฎณใ—ใ€ๅฐฟๅดฉ็—‡ใ€้›ฃ่ดใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅคšๅฝฉใช็ฅž็ตŒใƒป็ฒพ็ฅž็—‡็Šถใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธป่ฆๅพดๅ€™ใ‚’่‹ฑ่ชžใง็พใ—ใŸใจใใฎ้ ญๆ–‡ๅญ—ใ‚’ๅ–ใฃใฆDIDMOAD็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200789NANDO:1200757
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/242-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/233-201704-kojin.pdf
rdfs:label - "Hypertyrosinemia type II" + "Wolfram syndrome" @en
rdfs:label - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹" + "ใ†ใ‰ใ‚‹ใตใ‚‰ใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3147https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00854
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157958.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157144.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4693https://www.nanbyou.or.jp/entry/4789
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:altLabel - "Tyrosinemia type 2" - @enhttp://nanbyodata.jp/ontology/NANDO_1100009
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010160http://purl.obolibrary.org/obo/MONDO_0018105
skos:prefLabel - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹" + "ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค" @ja
- - + - - + + - - - - - + + "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200790 +
http://nanbyodata.jp/ontology/NANDO_1200758 (rdf:type owl:Class @@ -61503,91 +71766,81 @@

hasNotificationNumber243hasNotificationNumber234
dcterms:description - "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏ็ดฐ่ƒžๅ†…ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใƒปใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใใ‚Œใ‚‰ใฎใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชPEXใ‚ฟใƒณใƒ‘ใ‚ฏใฎ้บไผๅญ็•ฐๅธธ็—‡๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ๏ผ’ใคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Šๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ไปฃ่ฌ็ณปใŒ้šœๅฎณใ•ใ‚Œใ€ไธญๆžข็ฅž็ตŒ็ณปใ‚’ไธญๅฟƒใซๅฏพ่ฑกใจใชใ‚‹่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ—ใฆๅคšๅฒใซใ‚ใŸใ‚‹่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๆœ€ใ‚‚้‡็ฏคใ‹ใคใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎๆฅตๅž‹ใงใ‚ใ‚‹ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใชใฉ15ใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ“ใงใฏๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’้™คใ„ใŸใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200790
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/243-201704-kojin.pdfNANDO:1200758
rdfs:label - "Hypertyrosinemia type III" + "Peroxisomal Disorder" @en
rdfs:label - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3149 + rdfs:label + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157959.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4696https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:altLabel - "High tyrosinemia" - @enhttp://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "Tyrosinemia type 3" + "Peroxisomal disease" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010162http://purl.obolibrary.org/obo/MONDO_0019053
skos:prefLabel - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹" + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200791 +
http://nanbyodata.jp/ontology/NANDO_1200759 (rdf:type owl:Class @@ -61595,82 +71848,89 @@

hasNotificationNumber244
- dcterms:description - "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡๏ผˆMSUD๏ผ‰ใฏๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธ๏ผˆBCAA๏ผšใƒใƒชใƒณใ€ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณ๏ผ‰็”ฑๆฅใฎๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ๏ผˆBCKA๏ผ‰ใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎ้šœๅฎณใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใฎๆ€ฅๆ€งๆœŸใงใฏๅ…ƒๆฐ—ใŒใชใ„ใ€ๅ“บไนณๅŠ›ไฝŽไธ‹ใ€ไธๆฉŸๅซŒใ€ๅ˜”ๅใชใฉใง็™บ็—‡ใ™ใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“ใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅพŒๅผ“ๅๅผตใชใฉใŒๅ‡บ็พใ—ใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจๆญปไบกใ™ใ‚‹ใ‹้‡็ฏคใช็ฅž็ตŒๅพŒ้บ็—‡ใ‚’ใฎใ“ใ™ใ€‚ๆ…ขๆ€ง็—‡็Šถใจใ—ใฆใฏ็™บ้”้šœๅฎณใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅคฑ่ชฟ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉๅ…จใฆใฎๆ‚ฃ่€…ใฏใ“ใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใซใ‚ˆใฃใฆ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใ‚ใŒๅ›ฝใงใฎ้ ปๅบฆใฏๅ‡บ็”Ÿ็ด„50ไธ‡ไบบใซ๏ผ‘ไบบใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200791NANDO:1200759
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/244-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdf
rdfs:label - "Maple syrup urine disease" + "Peroxisome biogenesis disorders" @en
rdfs:label - "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" + "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2548http://nanbyodata.jp/ontology/NANDO_2200575
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00172https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00205
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157304.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4813https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200758
+ skos:altLabel + "PEX้บไผๅญ็•ฐๅธธ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009563http://purl.obolibrary.org/obo/MONDO_0019234
skos:prefLabel - "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + "ใคใ‡ใ‚‹ในใƒผใŒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200792 +
http://nanbyodata.jp/ontology/NANDO_1200760 (rdf:type owl:Class @@ -61678,82 +71938,77 @@

hasNotificationNumber245
- dcterms:description - "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡๏ผˆPA๏ผ‰ใฏใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200792NANDO:1200760
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/245-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdf
rdfs:label - "Propionic acidemia" + "Zellweger syndrome" @en
rdfs:label - "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4415 + rdfs:label + "ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00175https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01342
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157287.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5323https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200759
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011628http://purl.obolibrary.org/obo/MONDO_0019609
skos:prefLabel - "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" + "ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200793 +
http://nanbyodata.jp/ontology/NANDO_1200761 (rdf:type owl:Class @@ -61761,72 +72016,77 @@

hasNotificationNumber246
- dcterms:description - "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ใฏใ€ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA(MM-CoA)ใƒ ใ‚ฟใƒผใ‚ผ(EC5.4.99.2;MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA ใฎไปฃ่ฌใซ้šœๅฎณใ‚’ๆฅใ™ๅŽŸๅ› ใจใ—ใฆใฏใ€(๏ผ‘)MCM ๆฌ ๆ็—‡(MIM#251000)ใจใ€(๏ผ’)ใƒ“ใ‚ฟใƒŸใƒณB12ใฎๆ‘‚ๅ–ใƒป่…ธ็ฎกใงใฎๅธๅŽใƒป่ผธ้€ใ‹ใ‚‰ใ€MCMใฎๆดปๆ€งๅž‹่ฃœ้…ต็ด ใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณ(ใ‚ณใƒใƒžใƒŸใƒ‰)ๅˆๆˆใพใงใฎ่ซธๆฎต้šŽใซใŠใ‘ใ‚‹้šœๅฎณใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธใฏ็›ธ่ฃœๆ€ง่งฃๆžใ‹ใ‚‰cblA๏ฝžcblGใซๅˆ†้กžใ•ใ‚Œใ€cblAใ€cblBใฏใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณๅˆๆˆใ ใ‘ใซ้šœๅฎณใ‚’ๆฅใ—ใฆMCMๆฌ ๆ็—‡ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ใƒกใƒใ‚ชใƒ‹ใƒณๅˆๆˆ้…ต็ด ใซๅฟ…่ฆใชใƒกใƒใƒซใ‚ณใƒใƒฉใƒŸใƒณใฎๅˆๆˆใซๅ…ฑ้€šใ™ใ‚‹็ตŒ่ทฏใฎ้šœๅฎณใงใ‚ใ‚‹cblCใ€cblEใ€cblFใ€cblGใฏใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ„ใ€่‡จๅบŠๅƒใ‚’็•ฐใซใ™ใ‚‹ใ€‚cblDใฏใ€่ฒฌไปปๅˆ†ๅญMMADHCใŒcblCใฎ่ฒฌไปปๅˆ†ๅญMMACHCใซใ‚ˆใ‚‹ไฟฎ้ฃพใ‚’ๅ—ใ‘ใŸใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌไธญ้–“ไฝ“ใฎ็ดฐ่ƒžๅ†…ๅฑ€ๅœจ๏ผˆใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅˆใฏ็ดฐ่ƒž่ณช๏ผ‰ใฎๆŒฏใ‚Šๅˆ†ใ‘ใ‚’ๆ‹…ใฃใฆใŠใ‚Šใ€้บไผๅญๅค‰็•ฐใฎไฝ็ฝฎใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ๅ˜็‹ฌๅž‹๏ผใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ๅ˜็‹ฌๅž‹๏ผๆททๅˆๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ๆœฌ่จบๆ–ญๅŸบๆบ–ใงใฏใ€MCMๆฌ ๆ็—‡ใ€cblAใ€cblBใ€ๅŠใณcblDใฎใ†ใกใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„็—…ๅž‹ใ‚’ๅฏพ่ฑกใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200793NANDO:1200761
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdf
rdfs:label - "Methylmalonic acidemia" + "Neonatal adrenoleukodystrophy" @en
rdfs:label - "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00177
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4859https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200759
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002012http://purl.obolibrary.org/obo/MONDO_0018598
skos:prefLabel - "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" + "ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + "Infantile Refsum disease" + @en + "ใซใ‚…ใ†ใ˜ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200794 +
http://nanbyodata.jp/ontology/NANDO_1200762 (rdf:type owl:Class @@ -61834,70 +72094,72 @@

hasNotificationNumber246hasNotificationNumber234
dcterms:identifier1200794NANDO:1200762
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdf
rdfs:label - "MCMๆฌ ๆ็—‡" - @ja
rdfs:label - "Methylmalonyl-Coenzyme A mutase deficiency" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2598 + rdfs:label + "ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4859https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200793http://nanbyodata.jp/ontology/NANDO_1200759
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009612http://purl.obolibrary.org/obo/MONDO_0019174
skos:prefLabel - "MCMๆฌ ๆ็—‡" + "ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—…" @ja
- - + - - + + - + - + - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200795 +
http://nanbyodata.jp/ontology/NANDO_1200763 (rdf:type owl:Class @@ -61905,121 +72167,84 @@

hasNotificationNumber246hasNotificationNumber234
dcterms:identifier1200795NANDO:1200763
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-01-201704-kojin.pdf
rdfs:label - "Methylmalonic acidemia type cb1A" + "Rhizomelic chondrodysplasia punctata type 1" @en
rdfs:label - "cb1A" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4859
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200793
- skos:prefLabel - "cb1A" - @ja
- - - - - - - - - - - - - - + "ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira + "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹" + @ja - - + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200796 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber246
- dcterms:identifier1200796
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdf
rdfs:label - "Methylmalonic acidemia type cb1B" - @en
- rdfs:label - "cb1B" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1950
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4859https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200793http://nanbyodata.jp/ontology/NANDO_1200759
+ skos:altLabel + "RCDP type 1" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008972
skos:prefLabel - "cb1B" + "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200797 +
http://nanbyodata.jp/ontology/NANDO_1200764 (rdf:type owl:Class @@ -62027,60 +72252,77 @@

hasNotificationNumber246hasNotificationNumber234
dcterms:identifier1200797NANDO:1200764
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdf
rdfs:label - "Methylmalonic acidemia type cb1D" + "Peroxisomal beta-oxidation enzyme deficiency" @en
rdfs:label - "cb1D" + "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ในใƒผใŸใ•ใ‚“ใ‹ใ‘ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00407
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4859https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200793http://nanbyodata.jp/ontology/NANDO_1200758
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019233
skos:prefLabel - "cb1D" + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200798 +
http://nanbyodata.jp/ontology/NANDO_1200765 (rdf:type owl:Class @@ -62088,82 +72330,89 @@

hasNotificationNumber247
- dcterms:description - "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ใฏใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€Œ่ถณใฎ่’ธใ‚ŒใŸใ‚ˆใ†ใชใ€ใจใ‹ใ€Œๆฑ—่‡ญใ„ใ€ใจๅฝขๅฎนใ•ใ‚Œใ‚‹็‰นๅพด็š„ใชไฝ“่‡ญใ‚’ๅ‘ˆใ—ใ€ๅคšใใฏๆ–ฐ็”Ÿๅ…ๆœŸใซๅ“บไนณไธ่‰ฏใ‚„ๅ˜”ๅใ€ๆ„่ญ˜้šœๅฎณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅผทใ„ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€ไฝŽ่ก€็ณ–ใชใฉใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„50ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ฃŸไบ‹็™‚ๆณ•ใ‚„่–ฌ็‰ฉ็™‚ๆณ•ใง็—‡็Šถใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใงใใ‚ŒใฐไบˆๅพŒ่‰ฏๅฅฝใ ใŒใ€ๆ€ฅๆ€งๆœŸใฎๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200798NANDO:1200765
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/247-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdf
rdfs:label - "Isovaleric acidemia" + "Peroxisomal acyl-CoA oxidase deficiency" @en
rdfs:label - "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" + "ใ‚ใ—ใ‚‹ ใ“ใˆใƒผใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ " @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2466http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2906
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00173https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02096
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157124.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4816https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200764
+ skos:altLabel + "AOXๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009475http://purl.obolibrary.org/obo/MONDO_0009919
skos:prefLabel - "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" + "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ " @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + - - - - + "DBPๆฌ ๆ็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#1200799 +
http://nanbyodata.jp/ontology/NANDO_1200766 (rdf:type owl:Class @@ -62171,94 +72420,89 @@

hasNotificationNumber248
- dcterms:description - "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ๆฌ ๆ็—‡็—‡ๅ€™็พค๏ผˆglucose transporter type 1 deficiency syndrome๏ผšGLUT-1 DS๏ผ‰ใฏใ€่„ณใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚นใŒไธญๆžข็ฅž็ตŒ็ณปใซๅ–ใ‚Š่พผใพใ‚Œใชใ„ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ไปฃ่ฌๆ€ง่„ณ็—‡ใงใ€1991ๅนดใซDe Vivoใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่ก€็ณ–ใฏๆญฃๅธธๅ€คใงใ‚ใ‚‹ใŒ้ซ„ๆถฒ็ณ–ใŒไฝŽๅ€คใจใชใ‚‹ใ“ใจใ‚ˆใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅ†…ใฎไฝŽ่ก€็ณ–็Šถๆ…‹ใ‚’็”Ÿใ˜ใ€ๆง˜ใ€…ใชไธญๆžข็ฅž็ตŒ็ณปๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™ใ€‚ไธญใงใ‚‚้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟ็ญ‰ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚GLUT-1DSใฏใ‚ฑใƒˆใƒณ้ฃŸใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๆœ‰ๅŠนใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ—ฉๆœŸ็™บ่ฆ‹ใƒปๆฒป็™‚ใซใ‚ˆใ‚ŠไบˆๅพŒใ‚’ๆ”นๅ–„ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200799NANDO:1200766
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/248-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdf
rdfs:label - "Glucose transporter type 1 deficiency" + "D-bifunctional protein deficiency" @en
rdfs:label - "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" + "D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใงใƒใƒผใซใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4492http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2839
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00836https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02098
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157179.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4453https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200764
skos:altLabel - "Glut1 deficiency" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000188
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011724http://purl.obolibrary.org/obo/MONDO_0009855
skos:prefLabel - "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" + "D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200800 +
http://nanbyodata.jp/ontology/NANDO_1200767 (rdf:type owl:Class @@ -62266,77 +72510,84 @@

hasNotificationNumber249
- dcterms:description - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ๆฅใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ๏ผ“๏ฝž36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„21ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ—ฆ็™บ็—‡ใ™ใ‚‹ใจใปใจใ‚“ใฉใŒ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใ€ๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200800NANDO:1200767
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/249-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdf
rdfs:label - "Glutaric Acidemia type 1" + "Sterol carrier protein 2 deficiency" @en
rdfs:label - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹" + "ใ™ใฆใ‚ใƒผใ‚‹ใใ‚ƒใ‚Šใ‚ใทใ‚ใฆใ„ใ‚“ใˆใฃใใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2268http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7637
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157180.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4831https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200764
+ skos:altLabel + "SCPxๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009281http://purl.obolibrary.org/obo/MONDO_0013391
skos:prefLabel - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹" + "ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200801 +
http://nanbyodata.jp/ontology/NANDO_1200768 (rdf:type owl:Class @@ -62344,77 +72595,89 @@

hasNotificationNumber250
- dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ๏ผˆelectron transfer flavoprotein๏ผšETF๏ผ‰ๅŠใณETF่„ฑๆฐด็ด ้…ต็ด ๏ผˆETF dehydrogenase๏ผšETFDH๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ETFๅŠใณETFDHใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซใŠใ‘ใ‚‹ฮฒ้…ธๅŒ–็ตŒ่ทฏใ‚’ๅซใ‚€่ค‡ๆ•ฐใฎ่„ฑๆฐด็ด ้…ต็ด ๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹้›ปๅญใ‚’้›ปๅญไผ้”็ณปใซไพ›็ตฆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจ่จ˜่ผ‰ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„ๅคšๅšข่ƒžๆ€งๅšข่ƒž่…Žใ‚’ๅˆไฝตใ—ใ€ๆฅตใ‚ใฆ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—ๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็™บ็—‡ใ—็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎใƒ‘ใ‚คใƒญใƒƒใƒˆ็ ”็ฉถใฎ็ตๆžœใซใ‚ˆใ‚‹ใจ็ด„31ไธ‡ไบบใซ๏ผ‘ไบบใฎ็™บ่ฆ‹้ ปๅบฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200801NANDO:1200768
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/250-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-02-201704-kojin.pdf
rdfs:label - "Glutaric Acidemia type 2" + "2ใ‚ใกใ‚‹ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ‚‰ใ›ใพใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "Alpha-methylacyl-CoA racemase deficiency" @en
rdfs:label - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹" + "๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2269http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7967
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157181.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02099
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4819https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200764
+ skos:altLabel + "AMACRๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009282http://purl.obolibrary.org/obo/MONDO_0013681
skos:prefLabel - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹" + "๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200802 +
http://nanbyodata.jp/ontology/NANDO_1200769 (rdf:type owl:Class @@ -62422,82 +72685,82 @@

hasNotificationNumber251
- dcterms:description - "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฏไธปใซ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ๅฐฟ็ด ใ‚’็”ฃ็”Ÿใ™ใ‚‹็ตŒ่ทฏใงใ‚ใ‚Šใ€ใ‚ชใƒซใƒ‹ใƒใƒณใ€ใ‚ทใƒˆใƒซใƒชใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใฎ๏ผ”ใคใฎใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฏๅฐฟ็ด ๅˆๆˆ็ตŒ่ทฏใฎไปฃ่ฌ็ณปใซๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใฎ็—‡็Šถใชใฉใง็™บ็—‡ใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใ‚’ใ•ใ™ใ€‚Nใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber234
dcterms:identifier1200802NANDO:1200769
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-04-201704-kojin.pdf
rdfs:label - "Urea cycle disorder" + "Refsum disease" @en
rdfs:label - "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡" + "ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฌใƒ•ใ‚ตใƒ ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01398http://nanbyodata.jp/ontology/NANDO_2200577
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2946
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4621
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004739 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200758
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019217http://purl.obolibrary.org/obo/MONDO_0009958
skos:prefLabel - "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡" + "ใƒฌใƒ•ใ‚ตใƒ ็—…" @ja
- - + - - + + - + - + + "Plasmalogen biosynthesis enzyme deficiency" + @en + "ใทใ‚‰ใ™ใพใ‚ใƒผใ’ใ‚“ใ”ใ†ใ›ใ„ใ‘ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200803 +
http://nanbyodata.jp/ontology/NANDO_1200770 (rdf:type owl:Class @@ -62505,70 +72768,72 @@

hasNotificationNumber251hasNotificationNumber234
dcterms:identifier1200803NANDO:1200770
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-03-201704-kojin.pdf
rdfs:label - "CPSIๆฌ ๆ็—‡" - @ja
rdfs:label - "Carbamoyl phosphate synthetase I deficiency" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2364 + rdfs:label + "ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200802http://nanbyodata.jp/ontology/NANDO_1200758
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009376http://purl.obolibrary.org/obo/MONDO_0017986
skos:prefLabel - "CPSIๆฌ ๆ็—‡" + "ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "Rhizomelic chondrodysplasia punctata type 2" + @en + "ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200804 +
http://nanbyodata.jp/ontology/NANDO_1200771 (rdf:type owl:Class @@ -62576,70 +72841,84 @@

hasNotificationNumber251hasNotificationNumber234
dcterms:identifier1200804NANDO:1200771
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-03-201704-kojin.pdf
rdfs:label - "OTCๆฌ ๆ็—‡" - @ja
rdfs:label - "Ornithine transcarbamylase deficiency" - @en
+ rdfs:label + "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3533http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2098
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200802http://nanbyodata.jp/ontology/NANDO_1200770
+ skos:altLabel + "RCDP type 2" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010703http://purl.obolibrary.org/obo/MONDO_0009112
skos:prefLabel - "OTCๆฌ ๆ็—‡" + "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200805 +
http://nanbyodata.jp/ontology/NANDO_1200772 (rdf:type owl:Class @@ -62647,84 +72926,84 @@

hasNotificationNumber251hasNotificationNumber234
dcterms:identifier1200805NANDO:1200772
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-03-201704-kojin.pdf
rdfs:label - "classic citrullinemia" + "Rhizomelic chondrodysplasia punctata type 3" @en
rdfs:label - "ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + "ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1963http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3644
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200802http://nanbyodata.jp/ontology/NANDO_1200770
skos:altLabel - "Citrullinemia type I" + "RCDP type 3" @en
- skos:altLabel - "โ… ๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008988http://purl.obolibrary.org/obo/MONDO_0010823
skos:prefLabel - "ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹" @ja
- - + - - + + - + - + + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ—ใ‚…ใ†ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200806 +
http://nanbyodata.jp/ontology/NANDO_1200773 (rdf:type owl:Class @@ -62732,75 +73011,77 @@

hasNotificationNumber251hasNotificationNumber234
dcterms:identifier1200806NANDO:1200773
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-05-201704-kojin.pdf
rdfs:label - "Argininosuccinic aciduria" + "Primary hyperoxaluria type 1" @en
rdfs:label - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1786 + rdfs:label + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01028http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2809
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732https://www.nanbyou.or.jp/entry/4621
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200802http://nanbyodata.jp/ontology/NANDO_1200758
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008815http://purl.obolibrary.org/obo/MONDO_0009823
skos:prefLabel - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200807 +
http://nanbyodata.jp/ontology/NANDO_1200774 (rdf:type owl:Class @@ -62808,70 +73089,98 @@

hasNotificationNumber251hasNotificationNumber234
dcterms:identifier1200807NANDO:1200774
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/234-06-201704-kojin.pdf
rdfs:label - "Argininemia" + "Acatalasemia" @en
rdfs:label - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" + "ใ‚ใ‹ใŸใ‚‰ใ›ใฟใ‚" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1785http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=242
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157291.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732https://www.nanbyou.or.jp/entry/4622
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200802http://nanbyodata.jp/ontology/NANDO_1200758
+ skos:altLabel + "Acatalasaemia" + @en
+ skos:altLabel + "Acatalasia" + @en
+ skos:altLabel + "็„กใ‚ซใ‚ฟใƒฉใƒผใ‚ผ่ก€็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008814http://purl.obolibrary.org/obo/MONDO_0013571
skos:prefLabel - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" + "ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200808 +
http://nanbyodata.jp/ontology/NANDO_1200775 (rdf:type owl:Class @@ -62879,70 +73188,101 @@

hasNotificationNumber251hasNotificationNumber235
+ dcterms:description + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆparathyroid hormone๏ผšPTH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹PTHไฝœ็”จ้šœๅฎณใ‹ใ‚‰ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚„้ซ˜ใƒชใƒณ่ก€็—‡ใŒๆƒน่ตทใ•ใ‚Œใ€ไธปใซไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅ•้กŒใจใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200808NANDO:1200775
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/235-201704-kojin.pdf
rdfs:label - "NAGS deficiency" + "Hypoparathyroidism" @en
rdfs:label - "NAGSๆฌ ๆ็—‡" + "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2365http://nanbyodata.jp/ontology/NANDO_2200345
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01862
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157283.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4426
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200802http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "Accessory thyroid hypergasia disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009377http://purl.obolibrary.org/obo/MONDO_0001220
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015895
skos:prefLabel - "NAGSๆฌ ๆ็—‡" + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200809 +
http://nanbyodata.jp/ontology/NANDO_1200776 (rdf:type owl:Class @@ -62950,82 +73290,89 @@

hasNotificationNumber252hasNotificationNumber236
dcterms:description - "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€่›‹็™ฝใฎไธ€ใคใงใ‚ใ‚‹y+LAT-1๏ผˆy+L amino acid transporter-1๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใฃใฆใ€ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€็•ฐๅธธ๏ผˆๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใชใฉใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ๅˆ็™บๆ™‚ใฎไธปใช่‡จๅบŠๆ‰€่ฆ‹ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่›‹็™ฝๅซŒใ„ใ€ๆˆ้•ท้šœๅฎณใ€ๅ˜”ๅใ€่‚่…ซๅคงใชใฉใงใ‚ใ‚‹ใŒๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚ๆœฌ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ—ใ€่ฟ‘ๅนดใฎๆœฌ้‚ฆๆ‚ฃ่€…ๆ•ฐใฏ30๏ฝž40ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚LPIใฎ่ฒฌไปป้บไผๅญSLC7A7๏ผˆSolute carrier family7, member7๏ผ‰ใฏy+LAT-1ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ€‚" + "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200809NANDO:1200776
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/252-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/236-201704-kojin.pdf
rdfs:label - "Lysinuric protein intolerance" + "Pseudohypoparathyroidism" @en
rdfs:label - "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" + "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2093http://nanbyodata.jp/ontology/NANDO_2200349
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00899https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00244
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157314.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157168.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4681https://www.nanbyou.or.jp/entry/72
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100009
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009109http://purl.obolibrary.org/obo/MONDO_0019992
skos:prefLabel - "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" + "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200810 +
http://nanbyodata.jp/ontology/NANDO_1200777 (rdf:type owl:Class @@ -63033,89 +73380,112 @@

hasNotificationNumber253hasNotificationNumber237
dcterms:description - "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹proton-coupled folate transporter๏ผˆPCFT๏ผ‰ใฎๆฉŸ่ƒฝๅ–ชๅคฑใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใ‹ใ‚‰ใฎ่‘‰้…ธๅธๅŽไธๅ…จใจ่„ˆ็ตก่†œใซใŠใ‘ใ‚‹ๅ–ใ‚Š่พผใฟ้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…็–ซไธๅ…จใ€้ทๅปถๆ€งไธ‹็—ขใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็—™ๆ”ฃใชใฉใ‚’ๆฅใ™ใ€‚ๅคง่„ณๅŸบๅบ•ๆ ธใซ็Ÿณ็ฐๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆACTH๏ผ‰ไธๅฟœ็—‡ใฏใ€ๅฎถๆ—ๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…ใ‹ใ‚‰็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใงใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅŠใณๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ™ใ‚‹ใŒใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ACTHไธๅฟœ็—‡ใฏใ€็„กๆถ™็—‡๏ผˆalacrima๏ผ‰ใ€ใ‚ขใ‚ซใƒฉใ‚ทใ‚ข๏ผˆachalasia๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€Triple A็—‡ๅ€™็พค๏ผˆAllgrove็—‡ๅ€™็พค๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200810NANDO:1200777
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/253-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/237-201704-kojin.pdf
rdfs:label - "Hereditary Folate Malabsorption" + "ACTH unresponsiveness" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ" + "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2227http://nanbyodata.jp/ontology/NANDO_1200407
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01252http://nanbyodata.jp/ontology/NANDO_2200356
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157232.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157285.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4822https://www.nanbyou.or.jp/entry/4358
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100009
skos:altLabel - "Congenital folate malabsorption" + "ACTHไธๅฟœ็—‡" + @ja
+ skos:altLabel + "Adrenocorticotropic hormone insensitivity" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009238 + skos:altLabel + "Adrenocorticotropic hormone unresponsiveness" + @en
+ skos:altLabel + "Adrenocorticotropin unresponsiveness" + @en
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ" + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
- - + - - + + - + + "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†/ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200811 +
http://nanbyodata.jp/ontology/NANDO_1200778 (rdf:type owl:Class @@ -63123,77 +73493,88 @@

hasNotificationNumber254hasNotificationNumber238
dcterms:description - "ใƒ˜ใƒ ไปฃ่ฌ็ณปใซ้–ขใ‚ใ‚‹๏ผ˜ใคใฎ้…ต็ด ใฎใ„ใšใ‚Œใ‹ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใƒใƒซใƒ•ใ‚ฃใƒชใƒณไฝ“ใ‚ใ‚‹ใ„ใฏใใฎๅ‰้ง†ไฝ“ใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ™ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…ๆ…‹ใฎๅคง้ƒจๅˆ†ใŒไธๆ˜Žใงใ‚ใ‚Šใ€ๆ นๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ๅ„็—…ๅž‹้–“ใง็—‡็Šถใซใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใŒใ‚ใ‚Šใ€่จบๆ–ญใŒ้žๅธธใซ้›ฃใ—ใใ€็ขบๅฎš่จบๆ–ญใซใฏ้บไผๅญ่จบๆ–ญใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ๅˆฅๅใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจๅ‘ผใฐใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆˆ้•ท่ปŸ้ชจๅธฏ้–‰้Ž–ไปฅๅ‰ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ใใ‚‹็—…ใจๅ‘ผใ‚“ใงใ„ใ‚‹ใ€‚ใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใฏใ€้ชจ็Ÿณ็ฐๅŒ–้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธ‹่จ˜ใฎ็—‡็Šถใซใ‚ˆใ‚Šใ€็ฝนๆ‚ฃๆ‚ฃ่€…ใฎQOLใ‚’้‡ๅบฆใซ้šœๅฎณใ—ใ†ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณDๆฌ ไนๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจใฏ็•ฐใชใ‚Šใ€ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซใ‚ˆใ‚ŠๅฎŒๆฒปใ—ใชใ„ใ€‚" @ja
dcterms:identifier1200811NANDO:1200778
rdfs:label - "Porphyria" + "Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia" @en
rdfs:label - "ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01763 + rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198083.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.nanbyou.or.jp/entry/4558
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100008
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019142 + skos:altLabel + "Vitamin D Resistant Rickets / Osteomalacia" + @en
+ skos:altLabel + "ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037939http://purl.obolibrary.org/obo/MONDO_0024300
skos:prefLabel - "ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200812 +
http://nanbyodata.jp/ontology/NANDO_1200779 (rdf:type owl:Class @@ -63201,70 +73582,87 @@

hasNotificationNumber254hasNotificationNumber238
dcterms:identifier1200812NANDO:1200779
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/238-201704-kojin.pdf
rdfs:label - "Acute intermittent porphyria" + "Vitamin D-resistant rickets" @en
rdfs:label - "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1266http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3443
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3757
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198083.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4558
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1200778
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008294http://purl.obolibrary.org/obo/MONDO_0010619
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010931
skos:prefLabel - "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200813 +
http://nanbyodata.jp/ontology/NANDO_1200780 (rdf:type owl:Class @@ -63272,70 +73670,77 @@

hasNotificationNumber254hasNotificationNumber238
dcterms:identifier1200813NANDO:1200780
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/238-02-201704-kojin.pdf
rdfs:label - "Hereditary coproporphyria" + "Vitamin D-resistant osteomalacia" @en
rdfs:label - "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=338http://nanbyodata.jp/ontology/NANDO_2200402
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198083.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.nanbyou.or.jp/entry/4558
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1200778
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007369http://purl.obolibrary.org/obo/MONDO_0024300
skos:prefLabel - "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" @ja
- - + - - + + - - + + - - + + + "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ†/ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200814 +
http://nanbyodata.jp/ontology/NANDO_1200781 (rdf:type owl:Class @@ -63343,70 +73748,88 @@

hasNotificationNumber254hasNotificationNumber239
- dcterms:identifier1200814 + dcterms:description + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ใฏใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใ‚‚ใ„ใ„ใ€้บไผๆ€งใซๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใ‚’็คบใ™ใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD-1ฮฑๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ๏ผˆCYP27B1๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR 1๏ผ‰ใจใ€ใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ๏ผˆVDR๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type 2๏ผšVDDR 2๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + @ja
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-03-201704-kojin.pdf + dcterms:identifierNANDO:1200781
rdfs:label - "Variegate porphyria" + "Vitamin D-dependent Rickets / Osteomalacia" @en
rdfs:label - "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1269 + rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157273.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.nanbyou.or.jp/entry/4561
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1100009
+ skos:altLabel + "Vitamin D-dependent osteomalacia" + @en
+ skos:altLabel + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008297http://purl.obolibrary.org/obo/MONDO_0024299
skos:prefLabel - "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡" @ja
- - + - - + + - + - + + "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira - - + + - + - + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200815 +
http://nanbyodata.jp/ontology/NANDO_1200782 (rdf:type owl:Class @@ -63414,94 +73837,79 @@

hasNotificationNumber254hasNotificationNumber239
dcterms:identifier1200815NANDO:1200782
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/239-01-201704-kojin.pdf
rdfs:label - "Erythropoietic protoporphyria" + "Vitamin D-dependent rickets, type 1" @en
rdfs:label - "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1300 + rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157273.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.nanbyou.or.jp/entry/4561
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1200781
skos:altLabel - "EPP" + "VDDR 1" @en
- skos:altLabel - "้ชจ้ซ„ๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001676
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008319
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019263http://purl.obolibrary.org/obo/MONDO_0009924
skos:prefLabel - "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹" @ja
- - + - - + + - + - + + "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira - - + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200816 +
http://nanbyodata.jp/ontology/NANDO_1200783 (rdf:type owl:Class @@ -63509,75 +73917,79 @@

hasNotificationNumber254hasNotificationNumber239
dcterms:identifier1200816NANDO:1200783
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/239-02-201704-kojin.pdf
rdfs:label - "Porphyria cutanea tarda" + "Vitamin D-dependent rickets, type 2" @en
rdfs:label - "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1268 + rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157273.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.nanbyou.or.jp/entry/4561
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1200781
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008296 + skos:altLabel + "VDDR 2" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015104http://purl.obolibrary.org/obo/MONDO_0019642
skos:prefLabel - "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200817 +
http://nanbyodata.jp/ontology/NANDO_1200784 (rdf:type owl:Class @@ -63585,70 +73997,101 @@

hasNotificationNumber254hasNotificationNumber240
+ dcterms:description + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใซไปฃ่กจใจใ•ใ‚Œใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃ็พคใฏใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚Pheใฏๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใฎใฒใจใคใงใ€ๆญฃๅธธใช่›‹็™ฝๅˆๆˆใ‚’ๅ–ถใ‚€ใŸใ‚ใซใฏไฝ“ๅค–ใ‹ใ‚‰ๆ‘‚ๅ–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ“ใฎ้ฃŸไบ‹ไธญใฎPheใฏ่›‹็™ฝๅˆๆˆใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ไปฅๅค–ใฏใ€ไธปใซPheๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใซใ‚ˆใ‚Šใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ•ใ‚ŒTyrไปฃ่ฌ็ตŒ่ทฏใงๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚Pheๆฐด้…ธๅŒ–ๅๅฟœใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใ€PheใŒ่“„็ฉใ—่ก€ไธญPheๅ€คใŒไธŠๆ˜‡ใ—ใ€ๅฐฟไธญใซใฏPheใฎใปใ‹ใใฎไปฃ่ฌ็”ฃ็‰ฉใฎใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใŒๅคง้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰PKUใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚้Žๅ‰ฐใฎPheใจใจใ‚‚ใซใ“ใ‚Œใ‚‰ใฎไปฃ่ฌ็”ฃ็‰ฉใฏๆญฃๅธธใฎไปฃ่ฌใ‚’้˜ปๅฎณใ—ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใงใฏ่„ณๆง‹็ฏ‰้šœๅฎณใซใ‚ˆใ‚‹็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไปฃ่กจใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ใŒใ€ๆˆไบบใซใŠใ„ใฆใ‚‚ใ•ใพใ–ใพใช็ฒพ็ฅž็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ—ใŸใ‚Šใ€้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใฎๆˆๅ› ใจใชใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200817NANDO:1200784
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-06-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdf
rdfs:label - "Congenital erythropoietic porphyria" + "Phenylketonuria" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใตใ‡ใซใ‚‹ใ‘ใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2889http://nanbyodata.jp/ontology/NANDO_2200467
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00167
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4747
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "PKU" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009902http://purl.obolibrary.org/obo/MONDO_0009861
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200818 +
http://nanbyodata.jp/ontology/NANDO_1200785 (rdf:type owl:Class @@ -63656,70 +74099,89 @@

hasNotificationNumber254hasNotificationNumber240
dcterms:identifier1200818NANDO:1200785
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-07-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdf
rdfs:label - "X-linked dominant protoporphyria" + "Phenylalanine hydroxylase deficiency" @en
rdfs:label - "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7146http://nanbyodata.jp/ontology/NANDO_2201075
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4747
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1200784
+ skos:altLabel + "PAHๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010420http://purl.obolibrary.org/obo/MONDO_0009861
skos:prefLabel - "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200819 +
http://nanbyodata.jp/ontology/NANDO_1200786 (rdf:type owl:Class @@ -63727,65 +74189,89 @@

hasNotificationNumber254hasNotificationNumber240
dcterms:identifier1200819NANDO:1200786
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-08-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdf
rdfs:label - "Hepatoerythropoietic porphyria" + "BH4ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Tetrahydrobiopterin deficiency" @en
rdfs:label - "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docxhttp://nanbyodata.jp/ontology/NANDO_2200594
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545http://nanbyodata.jp/ontology/NANDO_2201076
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4747
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200811http://nanbyodata.jp/ontology/NANDO_1200784
+ skos:altLabel + "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019799http://purl.obolibrary.org/obo/MONDO_0016543
skos:prefLabel - "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "BH4ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡" + @ja + "Tetrahydrobiopterin-responsive hyperphenylalaninemia" + @en - - + + - + - + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200820 +
http://nanbyodata.jp/ontology/NANDO_1200787 (rdf:type owl:Class @@ -63793,82 +74279,93 @@

hasNotificationNumber255
- dcterms:description - "ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ™ใ‚‹๏ผ”็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใจใ—ใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPCC๏ผ‰ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ใ€ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆACC๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธใงใฏใ“ใ‚Œใ‚‰ใฎๆดปๆ€งใŒๅŒๆ™‚ใซไฝŽไธ‹ใ™ใ‚‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใจใชใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใจใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใฎ๏ผ’็จฎ้กžใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใงใฏไธ€่ˆฌใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸๆ—ฉๆœŸใซๅ˜”ๅใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใง็™บ็—‡ใ—ใ€ใ‚„ใŒใฆ้›ฃๆฒปๆ€งๆนฟ็–นใ€็—™ๆ”ฃใ‚’ๆฅใ™ใ€‚ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไนณๅ…ๆœŸไปฅ้™ใซใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้›ฃๆฒปๆ€งๆนฟ็–นๆง˜็šฎ่†š็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ใจใ‚‚ใซ่–ฌ็†้‡ใฎใƒ“ใ‚ชใƒใƒณ๏ผˆ10๏ฝž100mg/ๆ—ฅ๏ผ‰ใฎ็ตŒๅฃๆŠ•ไธŽใซใ‚ˆใ‚Š่‡จๅบŠ็š„ใ€็”ŸๅŒ–ๅญฆ็š„ใซใ‚‚่ปฝๅฟซใ™ใ‚‹ใ€‚" - @jahasNotificationNumber240
dcterms:identifier1200820NANDO:1200787
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/255-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdf
rdfs:label - "Multiple carboxylase deficiency" - @en
rdfs:label - "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2653 + rdfs:label + "ใณใƒผใˆใ„ใก4ใฏใ‚“ใฎใ†ใ›ใ„ใ“ใ†ใดใƒผใˆใ„ใกใ„ใƒผใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157284.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4825https://www.nanbyou.or.jp/entry/4747
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200784
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009666 + skos:altLabel + "BH4-responsive hyperphenylalaninemia" + @en
+ skos:altLabel + "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡" + @ja
+ skos:altLabel + "Tetrahydrobiopterin-responsive hyperphenylalaninaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015454http://purl.obolibrary.org/obo/MONDO_0017389
skos:prefLabel - "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - + + "Tyrosinaemia type 1" + @en - +
http://nanbyodata.jp/ontology/nando#1200821 +
http://nanbyodata.jp/ontology/NANDO_1200788 (rdf:type owl:Class @@ -63876,82 +74373,96 @@

hasNotificationNumber255hasNotificationNumber241
+ dcterms:description + "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200821NANDO:1200788
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/255-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/241-201704-kojin.pdf
rdfs:label - "Holocarboxylase synthetase deficiency" + "Tyrosinemia type 1" @en
rdfs:label - "ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ‘ใŒใŸ" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2653http://nanbyodata.jp/ontology/NANDO_2200468
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00180http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3148
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157284.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157957.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4825https://www.nanbyou.or.jp/entry/4691
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200820http://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "HCSๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009666http://purl.obolibrary.org/obo/MONDO_0010161
skos:prefLabel - "ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200822 +
http://nanbyodata.jp/ontology/NANDO_1200789 (rdf:type owl:Class @@ -63959,75 +74470,96 @@

hasNotificationNumber255hasNotificationNumber242
+ dcterms:description + "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200822NANDO:1200789
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/255-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/242-201704-kojin.pdf
rdfs:label - "Biotinidase deficiency" + "Tyrosinemia type 2" @en
rdfs:label - "ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ’ใŒใŸ" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2652http://nanbyodata.jp/ontology/NANDO_2200469
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01182http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3147
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157284.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157958.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4825https://www.nanbyou.or.jp/entry/4694
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200820http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "Tyrosinaemia type 2" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009665http://purl.obolibrary.org/obo/MONDO_0010160
skos:prefLabel - "ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200823 +
http://nanbyodata.jp/ontology/NANDO_1200790 (rdf:type owl:Class @@ -64035,108 +74567,96 @@

hasNotificationNumber256hasNotificationNumber243
dcterms:description - "็ณ–ๅŽŸ็—…ใฏใ€ๅ…ˆๅคฉ็š„ใชใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ๅคงใใ่‚ๅž‹ใ€็ญ‹ๅž‹ใฎ็—…ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹ใงใฏไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹ใงใฏๆ€ฅๆ€ง็—‡็Šถใจใ—ใฆๆจช็ด‹็ญ‹่ž่งฃ็—‡ใ€ใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใชใฉใ‚’ๆฅใ—ใ€่…Žไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸ่€ๅนดๆœŸใงใฏ็ญ‹ๅŠ›ไฝŽไธ‹๏ผˆ้€ฒ่กŒๆ€ง๏ผ‰ใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…ใฎๅฅฝ็™บ็—…ๅž‹ใฏIIใ€IIIใ€Vใ€VIIๅž‹ใงใ€ๅ…จไฝ“ใฎ90๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎๅธŒใช็ญ‹ๅž‹็—…ๅž‹ใจใ—ใฆ0ๅž‹ใ€IVๅž‹ใ€IXๅž‹ใ€ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆPGK๏ผ‰ๆฌ ๆ็—‡ใ€Xๅž‹ใ€XIๅž‹ใ€XIIๅž‹ใ€XIIIๅž‹ใ€XIVๅž‹ใ€XVๅž‹ใŒใ‚ใ‚‹๏ผˆ็ญ‹ๅž‹็ณ–ๅŽŸ็—…ๅฏพๅฟœ่กจๅ‚็…ง๏ผ‰ใ€‚" + "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200823NANDO:1200790
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/243-201704-kojin.pdf
rdfs:label - "Muscle Glycogen Storage Disease" + "Tyrosinemia type 3" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…" + "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ“ใŒใŸ" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2284http://nanbyodata.jp/ontology/NANDO_2200470
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01762http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3149
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157959.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.nanbyou.or.jp/entry/4697
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:altLabel - "Glycogen storage disease type VII" - @en
- skos:altLabel - "Muscular glycogenosis" - @enhttp://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "Skeletal muscle glycogenosis" + "Tyrosinaemia type 3" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009295
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016118http://purl.obolibrary.org/obo/MONDO_0010162
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…" + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200824 +
http://nanbyodata.jp/ontology/NANDO_1200791 (rdf:type owl:Class @@ -64144,89 +74664,101 @@

hasNotificationNumber256hasNotificationNumber244
+ dcterms:description + "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡๏ผˆMSUD๏ผ‰ใฏๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธ๏ผˆBCAA๏ผšใƒใƒชใƒณใ€ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณ๏ผ‰็”ฑๆฅใฎๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ๏ผˆBCKA๏ผ‰ใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎ้šœๅฎณใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใฎๆ€ฅๆ€งๆœŸใงใฏๅ…ƒๆฐ—ใŒใชใ„ใ€ๅ“บไนณๅŠ›ไฝŽไธ‹ใ€ไธๆฉŸๅซŒใ€ๅ˜”ๅใชใฉใง็™บ็—‡ใ™ใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“ใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅพŒๅผ“ๅๅผตใชใฉใŒๅ‡บ็พใ—ใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจๆญปไบกใ™ใ‚‹ใ‹้‡็ฏคใช็ฅž็ตŒๅพŒ้บ็—‡ใ‚’ใฎใ“ใ™ใ€‚ๆ…ขๆ€ง็—‡็Šถใจใ—ใฆใฏ็™บ้”้šœๅฎณใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅคฑ่ชฟ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉๅ…จใฆใฎๆ‚ฃ่€…ใฏใ“ใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใซใ‚ˆใฃใฆ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใ‚ใŒๅ›ฝใงใฎ้ ปๅบฆใฏๅ‡บ็”Ÿ็ด„50ไธ‡ไบบใซ๏ผ‘ไบบใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200824NANDO:1200791
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/244-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type 0" + "Maple syrup urine disease" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹" + "ใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2404http://nanbyodata.jp/ontology/NANDO_2200473
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2548
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00172
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157304.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4813
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "Glycogen synthase deficiency" + "MSUD" @en
- skos:altLabel - "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009414
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017693http://purl.obolibrary.org/obo/MONDO_0009563
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹" + "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + + "Propionic acidaemia" + @en - +
http://nanbyodata.jp/ontology/nando#1200825 +
http://nanbyodata.jp/ontology/NANDO_1200792 (rdf:type owl:Class @@ -64234,84 +74766,108 @@

hasNotificationNumber256hasNotificationNumber245
+ dcterms:description + "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡๏ผˆPA๏ผ‰ใฏใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200825NANDO:1200792
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/245-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type II" + "Propionic acidemia" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹" + "ใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2277http://nanbyodata.jp/ontology/NANDO_2200492
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4415
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00175
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157287.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5324
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "Pompe disease" + "PA" @en
skos:altLabel - "Pompe็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009290http://purl.obolibrary.org/obo/MONDO_0011628
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹" + "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + + "Methylmalonic acidaemia" + @en - +
http://nanbyodata.jp/ontology/nando#1200826 +
http://nanbyodata.jp/ontology/NANDO_1200793 (rdf:type owl:Class @@ -64319,84 +74875,98 @@

hasNotificationNumber256hasNotificationNumber246
+ dcterms:description + "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ใฏใ€ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA(MM-CoA)ใƒ ใ‚ฟใƒผใ‚ผ(EC5.4.99.2;MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA ใฎไปฃ่ฌใซ้šœๅฎณใ‚’ๆฅใ™ๅŽŸๅ› ใจใ—ใฆใฏใ€(๏ผ‘)MCM ๆฌ ๆ็—‡(MIM#251000)ใจใ€(๏ผ’)ใƒ“ใ‚ฟใƒŸใƒณB12ใฎๆ‘‚ๅ–ใƒป่…ธ็ฎกใงใฎๅธๅŽใƒป่ผธ้€ใ‹ใ‚‰ใ€MCMใฎๆดปๆ€งๅž‹่ฃœ้…ต็ด ใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณ(ใ‚ณใƒใƒžใƒŸใƒ‰)ๅˆๆˆใพใงใฎ่ซธๆฎต้šŽใซใŠใ‘ใ‚‹้šœๅฎณใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธใฏ็›ธ่ฃœๆ€ง่งฃๆžใ‹ใ‚‰cblA๏ฝžcblGใซๅˆ†้กžใ•ใ‚Œใ€cblAใ€cblBใฏใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณๅˆๆˆใ ใ‘ใซ้šœๅฎณใ‚’ๆฅใ—ใฆMCMๆฌ ๆ็—‡ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ใƒกใƒใ‚ชใƒ‹ใƒณๅˆๆˆ้…ต็ด ใซๅฟ…่ฆใชใƒกใƒใƒซใ‚ณใƒใƒฉใƒŸใƒณใฎๅˆๆˆใซๅ…ฑ้€šใ™ใ‚‹็ตŒ่ทฏใฎ้šœๅฎณใงใ‚ใ‚‹cblCใ€cblEใ€cblFใ€cblGใฏใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ„ใ€่‡จๅบŠๅƒใ‚’็•ฐใซใ™ใ‚‹ใ€‚cblDใฏใ€่ฒฌไปปๅˆ†ๅญMMADHCใŒcblCใฎ่ฒฌไปปๅˆ†ๅญMMACHCใซใ‚ˆใ‚‹ไฟฎ้ฃพใ‚’ๅ—ใ‘ใŸใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌไธญ้–“ไฝ“ใฎ็ดฐ่ƒžๅ†…ๅฑ€ๅœจ๏ผˆใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅˆใฏ็ดฐ่ƒž่ณช๏ผ‰ใฎๆŒฏใ‚Šๅˆ†ใ‘ใ‚’ๆ‹…ใฃใฆใŠใ‚Šใ€้บไผๅญๅค‰็•ฐใฎไฝ็ฝฎใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ๅ˜็‹ฌๅž‹๏ผใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ๅ˜็‹ฌๅž‹๏ผๆททๅˆๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ๆœฌ่จบๆ–ญๅŸบๆบ–ใงใฏใ€MCMๆฌ ๆ็—‡ใ€cblAใ€cblBใ€ๅŠใณcblDใฎใ†ใกใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„็—…ๅž‹ใ‚’ๅฏพ่ฑกใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200826NANDO:1200793
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type III" + "Methylmalonic acidemia" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹" + "ใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280http://nanbyodata.jp/ontology/NANDO_2200491
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.nanbyou.or.jp/entry/4860
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "Cori disease" + "MMA" @en
skos:altLabel - "Cori็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291http://purl.obolibrary.org/obo/MONDO_0002012
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹" + "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200827 +
http://nanbyodata.jp/ontology/NANDO_1200794 (rdf:type owl:Class @@ -64404,89 +74974,77 @@

hasNotificationNumber256hasNotificationNumber246
dcterms:identifier1200827NANDO:1200794
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type IV" + "Methylmalonyl-Coenzyme A mutase deficiency" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†๏ผˆใˆใ‚€ใ—ใƒผใˆใ‚€ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†๏ผ‰" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ๏ผˆMCMๆฌ ๆ็—‡๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2281http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2598
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.nanbyou.or.jp/entry/4859
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823
- skos:altLabel - "Andersen disease" - @en
- skos:altLabel - "Andersen็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008222http://nanbyodata.jp/ontology/NANDO_1200793
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009292http://purl.obolibrary.org/obo/MONDO_0009612
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ๏ผˆMCMๆฌ ๆ็—‡๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200828 +
http://nanbyodata.jp/ontology/NANDO_1200795 (rdf:type owl:Class @@ -64494,84 +75052,89 @@

hasNotificationNumber256hasNotificationNumber246
dcterms:identifier1200828NANDO:1200795
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type V" + "Methylmalonic acidemia cblA type" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2282http://nanbyodata.jp/ontology/NANDO_2201105
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2599
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4860
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1200793
skos:altLabel - "McArdle disease" + "Methylmalonic acidaemia cblA type" @en
- skos:altLabel - "McArdle็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009293http://purl.obolibrary.org/obo/MONDO_0009613
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200829 +
http://nanbyodata.jp/ontology/NANDO_1200796 (rdf:type owl:Class @@ -64579,84 +75142,89 @@

hasNotificationNumber256hasNotificationNumber246
dcterms:identifier1200829NANDO:1200796
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type VII" + "Methylmalonic acidemia cblB type" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใณใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2284http://nanbyodata.jp/ontology/NANDO_2201106
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2600
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4860
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1200793
skos:altLabel - "Tarui disease" + "Methylmalonic acidaemia cblB type" @en
- skos:altLabel - "Tarui็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009295http://purl.obolibrary.org/obo/MONDO_0009614
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200830 +
http://nanbyodata.jp/ontology/NANDO_1200797 (rdf:type owl:Class @@ -64664,70 +75232,89 @@

hasNotificationNumber256hasNotificationNumber246
dcterms:identifier1200830NANDO:1200797
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/246-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type IXd" + "Methylmalonic acidemia CblD type" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใงใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6603http://nanbyodata.jp/ontology/NANDO_2201108
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3172
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157305.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4860
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1200793
+ skos:altLabel + "Methylmalonic acidaemia CblD type" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010362http://purl.obolibrary.org/obo/MONDO_0010185
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD" @ja
- - + - - + + + + + + - + - + + "Isovaleric acidemia" + @en + "ใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200831 +
http://nanbyodata.jp/ontology/NANDO_1200798 (rdf:type owl:Class @@ -64735,70 +75322,101 @@

hasNotificationNumber256hasNotificationNumber247
+ dcterms:description + "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ใฏใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€Œ่ถณใฎ่’ธใ‚ŒใŸใ‚ˆใ†ใชใ€ใจใ‹ใ€Œๆฑ—่‡ญใ„ใ€ใจๅฝขๅฎนใ•ใ‚Œใ‚‹็‰นๅพด็š„ใชไฝ“่‡ญใ‚’ๅ‘ˆใ—ใ€ๅคšใใฏๆ–ฐ็”Ÿๅ…ๆœŸใซๅ“บไนณไธ่‰ฏใ‚„ๅ˜”ๅใ€ๆ„่ญ˜้šœๅฎณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅผทใ„ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€ไฝŽ่ก€็ณ–ใชใฉใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„50ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ฃŸไบ‹็™‚ๆณ•ใ‚„่–ฌ็‰ฉ็™‚ๆณ•ใง็—‡็Šถใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใงใใ‚ŒใฐไบˆๅพŒ่‰ฏๅฅฝใ ใŒใ€ๆ€ฅๆ€งๆœŸใฎๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200831NANDO:1200798
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/247-201704-kojin.pdf
rdfs:label - "PGKๆฌ ๆ็—‡" - @ja
rdfs:label - "Phosphoglycerate kinase deficiency" - @en
+ rdfs:label + "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6912http://nanbyodata.jp/ontology/NANDO_2200494
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2466
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00173
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157124.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4817
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "Isovaleric acidaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010392http://purl.obolibrary.org/obo/MONDO_0009475
skos:prefLabel - "PGKๆฌ ๆ็—‡" + "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200832 +
http://nanbyodata.jp/ontology/NANDO_1200799 (rdf:type owl:Class @@ -64806,70 +75424,113 @@

hasNotificationNumber256hasNotificationNumber248
+ dcterms:description + "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ๆฌ ๆ็—‡็—‡ๅ€™็พค๏ผˆglucose transporter type 1 deficiency syndrome๏ผšGLUT-1 DS๏ผ‰ใฏใ€่„ณใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚นใŒไธญๆžข็ฅž็ตŒ็ณปใซๅ–ใ‚Š่พผใพใ‚Œใชใ„ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ไปฃ่ฌๆ€ง่„ณ็—‡ใงใ€1991ๅนดใซDe Vivoใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่ก€็ณ–ใฏๆญฃๅธธๅ€คใงใ‚ใ‚‹ใŒ้ซ„ๆถฒ็ณ–ใŒไฝŽๅ€คใจใชใ‚‹ใ“ใจใ‚ˆใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅ†…ใฎไฝŽ่ก€็ณ–็Šถๆ…‹ใ‚’็”Ÿใ˜ใ€ๆง˜ใ€…ใชไธญๆžข็ฅž็ตŒ็ณปๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™ใ€‚ไธญใงใ‚‚้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟ็ญ‰ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚GLUT-1DSใฏใ‚ฑใƒˆใƒณ้ฃŸใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๆœ‰ๅŠนใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ—ฉๆœŸ็™บ่ฆ‹ใƒปๆฒป็™‚ใซใ‚ˆใ‚ŠไบˆๅพŒใ‚’ๆ”นๅ–„ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200832NANDO:1200799
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/248-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type X" + "Glucose transporter 1 deficiency" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹" + "ใใ‚‹ใ“ใƒผใ™ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2848http://nanbyodata.jp/ontology/NANDO_2200545
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4492
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00836
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157179.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4453
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "GLUT-1 DS" + @en
+ skos:altLabel + "Glut1 deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009865http://purl.obolibrary.org/obo/MONDO_0000188
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011724
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹" + "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + + "Glutaric acidaemia type 1" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#1200833 +
http://nanbyodata.jp/ontology/NANDO_1200800 (rdf:type owl:Class @@ -64877,89 +75538,110 @@

hasNotificationNumber256hasNotificationNumber249
+ dcterms:description + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ๆฅใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ๏ผ“๏ฝž36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„21ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ—ฆ็™บ็—‡ใ™ใ‚‹ใจใปใจใ‚“ใฉใŒ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใ€ๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200833NANDO:1200800
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/249-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type XI" + "Glutaric acidemia type 1" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹" + "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7271http://nanbyodata.jp/ontology/NANDO_2200501
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2268
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157180.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4831
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "Kanno disease" + "GA1" @en
skos:altLabel - "Kanno็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009216 + skos:altLabel + "Glutaryl-CoA dehydrogenase deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013047http://purl.obolibrary.org/obo/MONDO_0009281
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹" + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200834 +
http://nanbyodata.jp/ontology/NANDO_1200801 (rdf:type owl:Class @@ -64967,70 +75649,110 @@

hasNotificationNumber256hasNotificationNumber250
+ dcterms:description + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ๏ผˆelectron transfer flavoprotein๏ผšETF๏ผ‰ๅŠใณETF่„ฑๆฐด็ด ้…ต็ด ๏ผˆETF dehydrogenase๏ผšETFDH๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ETFๅŠใณETFDHใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซใŠใ‘ใ‚‹ฮฒ้…ธๅŒ–็ตŒ่ทฏใ‚’ๅซใ‚€่ค‡ๆ•ฐใฎ่„ฑๆฐด็ด ้…ต็ด ๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹้›ปๅญใ‚’้›ปๅญไผ้”็ณปใซไพ›็ตฆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจ่จ˜่ผ‰ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„ๅคšๅšข่ƒžๆ€งๅšข่ƒž่…Žใ‚’ๅˆไฝตใ—ใ€ๆฅตใ‚ใฆ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—ๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็™บ็—‡ใ—็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎใƒ‘ใ‚คใƒญใƒƒใƒˆ็ ”็ฉถใฎ็ตๆžœใซใ‚ˆใ‚‹ใจ็ด„31ไธ‡ไบบใซ๏ผ‘ไบบใฎ็™บ่ฆ‹้ ปๅบฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200834NANDO:1200801
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/250-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type XII" + "Glutaric acidemia type 2" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹" + "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7017http://nanbyodata.jp/ontology/NANDO_2200502
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2269
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157181.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4819
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "GA2" + @en
+ skos:altLabel + "Glutaric acidaemia type 2" + @en
+ skos:altLabel + "Multiple acyl-CoA dehydrogenase deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012747http://purl.obolibrary.org/obo/MONDO_0009282
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹" + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200835 +
http://nanbyodata.jp/ontology/NANDO_1200802 (rdf:type owl:Class @@ -65038,70 +75760,84 @@

hasNotificationNumber256hasNotificationNumber251
+ dcterms:description + "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฏไธปใซ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ๅฐฟ็ด ใ‚’็”ฃ็”Ÿใ™ใ‚‹็ตŒ่ทฏใงใ‚ใ‚Šใ€ใ‚ชใƒซใƒ‹ใƒใƒณใ€ใ‚ทใƒˆใƒซใƒชใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใฎ๏ผ”ใคใฎใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฏๅฐฟ็ด ๅˆๆˆ็ตŒ่ทฏใฎไปฃ่ฌ็ณปใซๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใฎ็—‡็Šถใชใฉใง็™บ็—‡ใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใ‚’ใ•ใ™ใ€‚Nใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200835NANDO:1200802
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type XIII" + "Urea cycle disorder" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹" + "ใซใ‚‡ใ†ใใ•ใ„ใใ‚‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7270https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01398
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.nanbyou.or.jp/entry/4732
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013046http://purl.obolibrary.org/obo/MONDO_0004739
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹" + "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + + "ใ—ใƒผใดใƒผใˆใ™ใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200836 +
http://nanbyodata.jp/ontology/NANDO_1200803 (rdf:type owl:Class @@ -65109,65 +75845,89 @@

hasNotificationNumber256hasNotificationNumber251
dcterms:identifier1200836NANDO:1200803
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type XIV" + "CPSIๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Carbamoyl phosphate synthetase I deficiency" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹" - @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2364
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00164
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1200802
+ skos:altLabel + "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013968http://purl.obolibrary.org/obo/MONDO_0009376
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹" + "CPSIๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใŠใƒผใฆใƒใƒผใ—ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200837 +
http://nanbyodata.jp/ontology/NANDO_1200804 (rdf:type owl:Class @@ -65175,70 +75935,84 @@

hasNotificationNumber256hasNotificationNumber251
dcterms:identifier1200837NANDO:1200804
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdf
rdfs:label - "Glycogen storage diseases type XV" + "OTCๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Ornithine transcarbamylase deficiency" @en
rdfs:label - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7523http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3533
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711https://www.nanbyou.or.jp/entry/4732
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200823http://nanbyodata.jp/ontology/NANDO_1200802
+ skos:altLabel + "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013291http://purl.obolibrary.org/obo/MONDO_0010703
skos:prefLabel - "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹" + "OTCๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + + + + + + + + + - + - + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200838 +
http://nanbyodata.jp/ontology/NANDO_1200805 (rdf:type owl:Class @@ -65246,74 +76020,105 @@

hasNotificationNumber257
- dcterms:description - "็ณ–ๅŽŸ็—…ใฏ็ณ–ไปฃ่ฌใฎ็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚็ณ–ใ‚’ใ‚จใƒใƒซใ‚ฎใƒผใจใ—ใฆ่“„็ฉใ™ใ‚‹ใŸใ‚ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใธใจๅค‰ๆ›ใ™ใ‚‹็ณปใ€ๅŠใณ่“„็ฉใ—ใŸใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ไปฃ่ฌใ™ใ‚‹็ณปใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š็ณ–ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚้šœๅฎณใ‚’ๅ—ใ‘ใŸ้…ต็ด ใฎ็™บ็พ้ƒจไฝใซใ‚ˆใ‚Š่‚ๅž‹ใƒป็ญ‹ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹็ณ–ๅŽŸ็—…ใซใฏIใ€IIIใ€IVใ€VIใ€IXๅž‹ใŒใ‚ใ‚Šใ€ไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber251
dcterms:identifier1200838NANDO:1200805
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdf
rdfs:label - "Hepatic Glycogen Storage Disease" + "Classic citrullinemia" @en
rdfs:label - "่‚ๅž‹็ณ–ๅŽŸ็—…" + "ใ“ใฆใ‚“ใŒใŸใ—ใจใ‚‹ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01760http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1963
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.nanbyou.or.jp/entry/4732
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200802
skos:altLabel - "Hepatic glycogenosis" + "Citrullinemia type I" + @en
+ skos:altLabel + "Classic citrullinaemia" @en
+ skos:altLabel + "โ… ๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + @ja
+ skos:altLabel + "โ…ขๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008988
skos:prefLabel - "่‚ๅž‹็ณ–ๅŽŸ็—…" + "ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200839 +
http://nanbyodata.jp/ontology/NANDO_1200806 (rdf:type owl:Class @@ -65321,60 +76126,87 @@

hasNotificationNumber257hasNotificationNumber251
dcterms:identifier1200839NANDO:1200806
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type I-III-VI-IX" + "Argininosuccinic aciduria" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹" + "ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://nanbyodata.jp/ontology/NANDO_2200481
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1786
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01028
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4732
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200838http://nanbyodata.jp/ontology/NANDO_1200802
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008815
skos:prefLabel - "็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹" + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200840 +
http://nanbyodata.jp/ontology/NANDO_1200807 (rdf:type owl:Class @@ -65382,89 +76214,91 @@

hasNotificationNumber257hasNotificationNumber251
dcterms:identifier1200840NANDO:1200807
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type Ia" + "Argininemia" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ… aๅž‹" + "ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2274http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1785
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.nanbyou.or.jp/entry/4732
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839http://nanbyodata.jp/ontology/NANDO_1200802
skos:altLabel - "Glycogen storage disease due to glucose-6-phosphatase deficiency" + "Argininaemia" @en
skos:altLabel - "ใ‚ฏใ‚™ใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ปใ‚™ๆฌ ๆ็—‡" + "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002413
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009287http://purl.obolibrary.org/obo/MONDO_0008814
skos:prefLabel - "็ณ–ๅŽŸ็—…โ… aๅž‹" + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200841 +
http://nanbyodata.jp/ontology/NANDO_1200808 (rdf:type owl:Class @@ -65472,96 +76306,84 @@

hasNotificationNumber257hasNotificationNumber251
dcterms:identifier1200841NANDO:1200808
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/251-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type Ib" + "NAGS deficiency" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ… bๅž‹" + "NAGSๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใฌใˆใƒผใ˜ใƒผใˆใ™ๆฌ ๆ็—‡" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2275http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2365
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157261.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.nanbyou.or.jp/entry/4732
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839http://nanbyodata.jp/ontology/NANDO_1200802
skos:altLabel - "G6P translocase deficiency" - @en
- skos:altLabel - "G6PT deficiency" - @en
- skos:altLabel - "ใ‚ฏใ‚™ใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ปใ‚™ใƒˆใƒฉใƒณใ‚นใƒ›ใ‚šใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡" + "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009288
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0023258http://purl.obolibrary.org/obo/MONDO_0009377
skos:prefLabel - "็ณ–ๅŽŸ็—…โ… bๅž‹" + "NAGSๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200842 +
http://nanbyodata.jp/ontology/NANDO_1200809 (rdf:type owl:Class @@ -65569,84 +76391,94 @@

hasNotificationNumber257hasNotificationNumber252
+ dcterms:description + "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€่›‹็™ฝใฎไธ€ใคใงใ‚ใ‚‹y+LAT-1๏ผˆy+L amino acid transporter-1๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใฃใฆใ€ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€็•ฐๅธธ๏ผˆๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใชใฉใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ๅˆ็™บๆ™‚ใฎไธปใช่‡จๅบŠๆ‰€่ฆ‹ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่›‹็™ฝๅซŒใ„ใ€ๆˆ้•ท้šœๅฎณใ€ๅ˜”ๅใ€่‚่…ซๅคงใชใฉใงใ‚ใ‚‹ใŒๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚ๆœฌ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ—ใ€่ฟ‘ๅนดใฎๆœฌ้‚ฆๆ‚ฃ่€…ๆ•ฐใฏ30๏ฝž40ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚LPIใฎ่ฒฌไปป้บไผๅญSLC7A7๏ผˆSolute carrier family7, member7๏ผ‰ใฏy+LAT-1ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200842NANDO:1200809
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/252-201704-kojin.pdf
rdfs:label - "GSD type IIIa" + "Lysinuric protein intolerance" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ขaๅž‹" + "ใ‚Šใ˜ใ‚“ใซใ‚‡ใ†ใ›ใ„ใŸใ‚“ใฑใใตใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280http://nanbyodata.jp/ontology/NANDO_2200488
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2093
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00899
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157314.docx
- skos:altLabel - "Glycogen storage disease due to glycogen debranching enzyme deficiency" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4681
- skos:altLabel - "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291http://purl.obolibrary.org/obo/MONDO_0009109
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ขaๅž‹" + "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200843 +
http://nanbyodata.jp/ontology/NANDO_1200810 (rdf:type owl:Class @@ -65654,84 +76486,101 @@

hasNotificationNumber257hasNotificationNumber253
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹proton-coupled folate transporter๏ผˆPCFT๏ผ‰ใฎๆฉŸ่ƒฝๅ–ชๅคฑใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใ‹ใ‚‰ใฎ่‘‰้…ธๅธๅŽไธๅ…จใจ่„ˆ็ตก่†œใซใŠใ‘ใ‚‹ๅ–ใ‚Š่พผใฟ้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…็–ซไธๅ…จใ€้ทๅปถๆ€งไธ‹็—ขใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็—™ๆ”ฃใชใฉใ‚’ๆฅใ™ใ€‚ๅคง่„ณๅŸบๅบ•ๆ ธใซ็Ÿณ็ฐๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200843NANDO:1200810
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/253-201704-kojin.pdf
rdfs:label - "GSD type IIIb" + "Hereditary Folate Malabsorption" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ขbๅž‹" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ˆใ†ใ•ใ‚“ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280http://nanbyodata.jp/ontology/NANDO_2200592
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2227
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01252
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157232.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4822
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839http://nanbyodata.jp/ontology/NANDO_1100002
skos:altLabel - "Glycogen storage disease due to glycogen debranching enzyme deficiency" + "Congenital folate malabsorption" @en
- skos:altLabel - "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291http://purl.obolibrary.org/obo/MONDO_0009238
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ขbๅž‹" + "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡" @ja
- - + - - + + + + + + - + - - + + + "ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200844 +
http://nanbyodata.jp/ontology/NANDO_1200811 (rdf:type owl:Class @@ -65739,84 +76588,79 @@

hasNotificationNumber257hasNotificationNumber254
+ dcterms:description + "ใƒ˜ใƒ ไปฃ่ฌ็ณปใซ้–ขใ‚ใ‚‹๏ผ˜ใคใฎ้…ต็ด ใฎใ„ใšใ‚Œใ‹ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใƒใƒซใƒ•ใ‚ฃใƒชใƒณไฝ“ใ‚ใ‚‹ใ„ใฏใใฎๅ‰้ง†ไฝ“ใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ™ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…ๆ…‹ใฎๅคง้ƒจๅˆ†ใŒไธๆ˜Žใงใ‚ใ‚Šใ€ๆ นๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ๅ„็—…ๅž‹้–“ใง็—‡็Šถใซใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใŒใ‚ใ‚Šใ€่จบๆ–ญใŒ้žๅธธใซ้›ฃใ—ใใ€็ขบๅฎš่จบๆ–ญใซใฏ้บไผๅญ่จบๆ–ญใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200844NANDO:1200811
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf + rdfs:label + "Porphyria" + @en
rdfs:label - "GSD type IIIc" - @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ขcๅž‹" + "ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01763
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839
- skos:altLabel - "amylo 1,6- glucosidase deficiency" - @en
- skos:altLabel - "ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" - @jahttp://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291http://purl.obolibrary.org/obo/MONDO_0037939
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ขcๅž‹" + "ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200845 +
http://nanbyodata.jp/ontology/NANDO_1200812 (rdf:type owl:Class @@ -65824,74 +76668,89 @@

hasNotificationNumber257hasNotificationNumber254
dcterms:identifier1200845NANDO:1200812
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-01-201704-kojin.pdf
rdfs:label - "GSD type IIId" + "Acute intermittent porphyria" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ขdๅž‹" + "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ‘ใคใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://nanbyodata.jp/ontology/NANDO_2201263
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1266
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839http://nanbyodata.jp/ontology/NANDO_1200811
skos:altLabel - "4-alpha-glucanotransferase deficiency" + "AIP" @en
- skos:altLabel - "ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008294
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ขdๅž‹" + "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - - + + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200846 +
http://nanbyodata.jp/ontology/NANDO_1200813 (rdf:type owl:Class @@ -65899,98 +76758,89 @@

hasNotificationNumber257hasNotificationNumber254
dcterms:identifier1200846NANDO:1200813
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-02-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type VI" + "Hereditary coproporphyria" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ฅๅž‹" + "ใ„ใงใ‚“ใ›ใ„ใ“ใทใ‚ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2283http://nanbyodata.jp/ontology/NANDO_2201264
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=338
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545
- skos:altLabel - "Hepatic phosphorylase deficiency" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200811
skos:altLabel - "Hers disease" + "HCP" @en
- skos:altLabel - "ใƒใƒผใ‚น็—…" - @ja
- skos:altLabel - "่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009294http://purl.obolibrary.org/obo/MONDO_0007369
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ฅๅž‹" + "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + "VP" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200847 +
http://nanbyodata.jp/ontology/NANDO_1200814 (rdf:type owl:Class @@ -65998,67 +76848,89 @@

hasNotificationNumber257hasNotificationNumber254
dcterms:identifier1200847NANDO:1200814
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-03-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type โ…จa" + "Variegate porphyria" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…จaๅž‹" + "ใ„ใ‘ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://nanbyodata.jp/ontology/NANDO_2201265
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1269
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839http://nanbyodata.jp/ontology/NANDO_1200811
skos:altLabel - "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008297
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…จaๅž‹" + "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200848 +
http://nanbyodata.jp/ontology/NANDO_1200815 (rdf:type owl:Class @@ -66066,67 +76938,106 @@

hasNotificationNumber257hasNotificationNumber254
dcterms:identifier1200848NANDO:1200815
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-04-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type โ…จb" + "Erythropoietic protoporphyria" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…จbๅž‹" + "ใ›ใใŒใใ‚…ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://nanbyodata.jp/ontology/NANDO_2201266
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1300
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839http://nanbyodata.jp/ontology/NANDO_1200811
skos:altLabel - "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰" + "EPP" + @en
+ skos:altLabel + "้ชจ้ซ„ๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001676
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008319
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019263
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…จbๅž‹" + "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + "PCT" + @en + + + +
http://nanbyodata.jp/ontology/nando#1200849 +
http://nanbyodata.jp/ontology/NANDO_1200816 (rdf:type owl:Class @@ -66134,67 +77045,84 @@

hasNotificationNumber257hasNotificationNumber254
dcterms:identifier1200849NANDO:1200816
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-05-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type โ…จc" + "Porphyria cutanea tarda" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…จcๅž‹" + "ใฐใ‚“ใฏใคใ›ใ„ใฒใตใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttp://nanbyodata.jp/ontology/NANDO_2201267
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200839http://nanbyodata.jp/ontology/NANDO_1200811
skos:altLabel - "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015104
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…จcๅž‹" + "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200850 +
http://nanbyodata.jp/ontology/NANDO_1200817 (rdf:type owl:Class @@ -66202,70 +77130,86 @@

hasNotificationNumber257hasNotificationNumber254
dcterms:identifier1200850NANDO:1200817
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-06-201704-kojin.pdf
rdfs:label - "Glycogen storage disease type IV" + "Congenital erythropoietic porphyria" @en
rdfs:label - "โ…ฃๅž‹็ณ–ๅŽŸ็—…" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2281http://nanbyodata.jp/ontology/NANDO_2201268
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329https://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200838http://nanbyodata.jp/ontology/NANDO_1200811
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009292 + skos:altLabel + "CEP" + @en
+ skos:altLabel + "้บไผๆ€ง่ตค่Šฝ็ƒๅข—ๆฎ–ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + @ja
skos:prefLabel - "โ…ฃๅž‹็ณ–ๅŽŸ็—…" + "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200851 +
http://nanbyodata.jp/ontology/NANDO_1200818 (rdf:type owl:Class @@ -66273,103 +77217,89 @@

hasNotificationNumber258
- dcterms:description - "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅˆใฏๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber254
dcterms:identifier1200851NANDO:1200818
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/258-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-07-201704-kojin.pdf
rdfs:label - "Galactose-1-phosphate Uridyltransferase Deficiency" + "X-linked dominant protoporphyria" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚†ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2246http://nanbyodata.jp/ontology/NANDO_2201269
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02008http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7146
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157161.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4828https://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:altLabel - "GALT deficiency" - @en
- skos:altLabel - "Galactose-1-phosphate uridylyltransferase deficiency" - @enhttp://nanbyodata.jp/ontology/NANDO_1200811
skos:altLabel - "Galactosemia type 1" + "CLDP" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009258http://purl.obolibrary.org/obo/MONDO_0010420
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ‹ใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200852 +
http://nanbyodata.jp/ontology/NANDO_1200819 (rdf:type owl:Class @@ -66377,94 +77307,84 @@

hasNotificationNumber259
- dcterms:description - "ๅฎถๆ—ๆ€งใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆlecithin cholesterol acyl transferase๏ผšLCAT๏ผ‰ๆฌ ๆ็—‡ใฏใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฎใจใ“ใ‚ไธ–็•Œใง80็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใจใ‚Šใ‚ใ‘ใ€ๅŒ—ๆฌงใ‚„ๆˆ‘ใŒๅ›ฝใงใฎๅ ฑๅ‘ŠใŒๅคšใ„ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใช้…ต็ด  LCATใฎ้…ต็ด ๆฌ ๆใ‚„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€้Š้›ขใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒฌใ‚ทใƒใƒณ๏ผˆใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณ๏ผ‰ใŒๅข—ๅŠ ใ—ใ€ใใฎ็ตๆžœHDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่‘—ๅใชไฝŽไธ‹ๅŠใณ่ก€ๆธ…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚็ต„ๆˆใฎๅค‰ๅŒ–ใ—ใŸใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใŒ็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใงใ€่ง’่†œๆททๆฟใ€ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่…Ž้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚" - @jahasNotificationNumber254
dcterms:identifier1200852NANDO:1200819
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/259-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/254-08-201704-kojin.pdf
rdfs:label - "Lecithin Cholesterol Acyltransferase Deficiency" + "Hepatoerythropoietic porphyria" @en
rdfs:label - "ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2505 + rdfs:label + "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00158http://nanbyodata.jp/ontology/NANDO_2201270
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157319.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157295.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4546https://www.nanbyou.or.jp/entry/5545
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200811
skos:altLabel - "LCAT deficiency" + "HEP" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009515
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018999http://purl.obolibrary.org/obo/MONDO_0019799
skos:prefLabel - "ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200853 +
http://nanbyodata.jp/ontology/NANDO_1200820 (rdf:type owl:Class @@ -66472,77 +77392,84 @@

hasNotificationNumber260hasNotificationNumber255
dcterms:description - "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ใจใ‚‹้บไผๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚Šใ€ๆžœ็‰ฉใ‚„้‡Ž่œใซๅซใพใ‚Œใ‚‹ๆค็‰ฉใ‚นใƒ†ใƒญใƒผใƒซใฎไธ€็จฎใงใ‚ใ‚‹ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใฎๆŽ’ๆณ„ไฝŽไธ‹ใซใ‚ˆใ‚Š่ก€ไธญๅˆใฏ็ต„็น”ใซใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซใ‚„ๆ—ฉ็™บๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใจใ„ใฃใŸ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ™ใ‚‹๏ผ”็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใจใ—ใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPCC๏ผ‰ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ใ€ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆACC๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธใงใฏใ“ใ‚Œใ‚‰ใฎๆดปๆ€งใŒๅŒๆ™‚ใซไฝŽไธ‹ใ™ใ‚‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใจใชใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใจใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใฎ๏ผ’็จฎ้กžใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใงใฏไธ€่ˆฌใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸๆ—ฉๆœŸใซๅ˜”ๅใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใง็™บ็—‡ใ—ใ€ใ‚„ใŒใฆ้›ฃๆฒปๆ€งๆนฟ็–นใ€็—™ๆ”ฃใ‚’ๆฅใ™ใ€‚ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไนณๅ…ๆœŸไปฅ้™ใซใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้›ฃๆฒปๆ€งๆนฟ็–นๆง˜็šฎ่†š็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ใจใ‚‚ใซ่–ฌ็†้‡ใฎใƒ“ใ‚ชใƒใƒณ๏ผˆ10๏ฝž100mg/ๆ—ฅ๏ผ‰ใฎ็ตŒๅฃๆŠ•ไธŽใซใ‚ˆใ‚Š่‡จๅบŠ็š„ใ€็”ŸๅŒ–ๅญฆ็š„ใซใ‚‚่ปฝๅฟซใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200853NANDO:1200820
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/260-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/255-201704-kojin.pdf
rdfs:label - "Sitosterolemia" + "multiple carboxylase deficiency" @en
rdfs:label - "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" + "ใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00152http://nanbyodata.jp/ontology/NANDO_2200500
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157205.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157284.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4856https://www.nanbyou.or.jp/entry/4825
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008863http://purl.obolibrary.org/obo/MONDO_0015454
skos:prefLabel - "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" + "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200854 +
http://nanbyodata.jp/ontology/NANDO_1200821 (rdf:type owl:Class @@ -66550,82 +77477,89 @@

hasNotificationNumber261
- dcterms:description - "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…ใฏใ€่ก€ๆธ…HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใƒปใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-๏ผฉๆฟƒๅบฆใŒ่‘—ใ—ใ„ไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Šใ€HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๆฌ ๆ็—‡ใฎใปใ‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๅ’ฝ้ ญๆ‰ๆกƒ่…ซๅคงใ€่‚่„พ่…ซใ€่ง’่†œๆททๆฟใ€ๆœซๆขข็ฅž็ตŒ้šœๅฎณใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-๏ผฉใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซใŠใ„ใฆ้‡่ฆใชATP binding cassette transporter A1๏ผˆABCA1๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ–็•Œ็š„ใซใ‚‚ใพใ‚Œใงๆˆ‘ใŒๅ›ฝใงใฏ10ๅฎถ็ณป็จ‹ๅบฆใฎๅ ฑๅ‘Šใ—ใ‹ใชใ„ใ€‚่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๆฅใ™ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber255
dcterms:identifier1200854NANDO:1200821
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/261-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/255-201704-kojin.pdf
rdfs:label - "Tangier disease" + "Holocarboxylase synthetase deficiency" @en
rdfs:label - "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…" + "ใปใ‚ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1753http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2653
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00159https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00180
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157244.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157284.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4585https://www.nanbyou.or.jp/entry/4825
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200820
+ skos:altLabel + "HCSๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008783http://purl.obolibrary.org/obo/MONDO_0009666
skos:prefLabel - "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…" + "ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200855 +
http://nanbyodata.jp/ontology/NANDO_1200822 (rdf:type owl:Class @@ -66633,72 +77567,82 @@

hasNotificationNumber262
- dcterms:description - "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณไปฃ่ฌใซๅฟ…่ฆใช้…ต็ด ใฎๆฌ ๆใ‚„ใ€่ผธ้€่›‹็™ฝใฎๆฌ ๆใชใฉใซใ‚ˆใ‚Šใ€่ก€ไธญใซ็•ฐๅธธใซใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซ๏ผˆ็™บ็–นๆ€ง้ป„่‰ฒ่…ซ๏ผ‰ใ‚„ใ€ๆ™‚ใซๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ•ใ›ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณช็•ฐๅธธ็—‡ใฎWHOๅˆ†้กžใงใฏIๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎๅข—ๅŠ ๏ผ‰ๅŠใณVๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใจVLDLใฎๅข—ๅŠ ๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’็คบใ™ใ€‚ใ€€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใจใ—ใฆใ€ใƒชใƒ่›‹็™ฝใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏC-IIๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-Vๆฌ ๆ็—‡ใ€GPIHBP1ๆฌ ๆ็—‡ใ€LMF1ๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€ง๏ผถๅž‹้ซ˜่„‚่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใ‚‚่ก€ๆธ…ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ไธŠๆ˜‡ใซใ‚ˆใ‚Šๆ€ฅๆ€ง่†ต็‚Žใฎ็™บ็—‡ใƒป้‡็—‡ๅŒ–ใƒชใ‚นใ‚ฏใŒ้ซ˜ใใชใ‚‹ใ€‚" - @jahasNotificationNumber255
dcterms:identifier1200855NANDO:1200822
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/262-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/255-201704-kojin.pdf
rdfs:label - "Primary Hyperchylomicronemia" + "Biotinidase deficiency" @en
rdfs:label - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" + "ใณใŠใกใซใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01784http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2652
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157186.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01182
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4883https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157284.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4825
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200820
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009665
skos:prefLabel - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" + "ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200856 +
http://nanbyodata.jp/ontology/NANDO_1200823 (rdf:type owl:Class @@ -66706,82 +77650,115 @@

hasNotificationNumber263hasNotificationNumber256
dcterms:description - "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡๏ผˆ27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใฏใ€ใ‚ทใƒˆใ‚ฏใƒญใƒ P-450๏ผˆCYP๏ผ‰้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚ŠCYP่›‹็™ฝใงใ‚ใ‚‹27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆCYP27๏ผ‰ๆดปๆ€งใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฅž็ตŒ็ต„็น”ใ‚„่…ฑ็ต„็น”ใซ่“„็ฉใ—ใŸ่„‚่ณชๆˆๅˆ†ใŒใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅŠใณใ‚ณใƒฌใ‚นใ‚ฟใƒŽใƒผใƒซ๏ผˆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใซ้กžไผผใ—ใŸๆง‹้€ ใ‚’็คบใ™็‰ฉ่ณช๏ผ‰ใงใ‚ใฃใŸใ“ใจใ‹ใ‚‰ใ€ๅ…ˆๅคฉๆ€งใ‚นใƒ†ใƒญใƒผใƒซ่“„็ฉ็—‡ใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏ60ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใฟใ‚‰ใ‚Œใ€20ๆญณไปฅๅ‰ใซๅคšใใŒ็™บ็—‡ใ—ใ€ๅนณๅ‡ๅนด้ฝขใŒ็”ทๆ€ง40.4ๆญณใ€ๅฅณๆ€ง36.8ๆญณใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็Ÿฅ่ƒฝไฝŽไธ‹ใƒป้Œ˜ไฝ“่ทฏ็—‡็Šถใƒปๅฐ่„ณ็—‡็Šถใชใฉใฎ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณใ€ใ‚ขใ‚ญใƒฌใ‚น่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ€ๆ—ฉ็™บๆ€งๅฟƒ่ก€็ฎก็–พๆ‚ฃใชใฉใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "็ณ–ๅŽŸ็—…ใฏใ€ๅ…ˆๅคฉ็š„ใชใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ๅคงใใ่‚ๅž‹ใ€็ญ‹ๅž‹ใฎ็—…ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹ใงใฏไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹ใงใฏๆ€ฅๆ€ง็—‡็Šถใจใ—ใฆๆจช็ด‹็ญ‹่ž่งฃ็—‡ใ€ใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใชใฉใ‚’ๆฅใ—ใ€่…Žไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸ่€ๅนดๆœŸใงใฏ็ญ‹ๅŠ›ไฝŽไธ‹๏ผˆ้€ฒ่กŒๆ€ง๏ผ‰ใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…ใฎๅฅฝ็™บ็—…ๅž‹ใฏIIใ€IIIใ€Vใ€VIIๅž‹ใงใ€ๅ…จไฝ“ใฎ90๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎๅธŒใช็ญ‹ๅž‹็—…ๅž‹ใจใ—ใฆ0ๅž‹ใ€IVๅž‹ใ€IXๅž‹ใ€ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆPGK๏ผ‰ๆฌ ๆ็—‡ใ€Xๅž‹ใ€XIๅž‹ใ€XIIๅž‹ใ€XIIIๅž‹ใ€XIVๅž‹ใ€XVๅž‹ใŒใ‚ใ‚‹๏ผˆ็ญ‹ๅž‹็ณ–ๅŽŸ็—…ๅฏพๅฟœ่กจๅ‚็…ง๏ผ‰ใ€‚" @ja
dcterms:identifier1200856NANDO:1200823
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/263-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Cerebrotendinous xanthomatosis" + "Muscle Glycogen Storage Disease" @en
rdfs:label - "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1925http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2284
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00151https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01762
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157263.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4618https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "Glycogen storage disease type VII" + @en
+ skos:altLabel + "Muscular glycogenosis" + @en
+ skos:altLabel + "Skeletal muscle glycogenosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008948http://purl.obolibrary.org/obo/MONDO_0009295
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016118
skos:prefLabel - "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…" @ja
- - + - - - - - - + + - + - + + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใŒใŸ" + @ja-Hira - - + + - + - + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200857 +
http://nanbyodata.jp/ontology/NANDO_1200824 (rdf:type owl:Class @@ -66789,82 +77766,96 @@

hasNotificationNumber264
- dcterms:description - "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ใฏ่‘—ใ—ใ„ไฝŽใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ๅŠใณไฝŽใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’ๆฅใ™ใ€ใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒBๅซๆœ‰ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใ€VLDLใ€LDLใŒๆฌ ๅฆ‚ใ—ใฆใŠใ‚Šใ€ๆ‚ฃ่€…่ก€ไธญใซใ‚ขใƒBใฏใ‚ขใƒB-48ใ€ใ‚ขใƒB-100ใจใ‚‚ใซ่ชใ‚ใชใ„ใ€‚่„‚่‚ชๅธๅŽ้šœๅฎณใจใใ‚Œใซใ‚ˆใ‚‹่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไน็—‡ใŒๆŽˆไนณ้–‹ๅง‹ๆ™‚ใ‚ˆใ‚ŠๆŒ็ถšใ™ใ‚‹ใŸใ‚ใ€้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้•ทๆœŸใซ็ถ™็ถšใ—ใชใ„ใจไธๅฏ้€†็š„ใช็œผ็—‡็Šถใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ—ใ†ใ‚‹ใ€‚1993ๅนดใซๆœฌ็–พๆ‚ฃใซใŠใ„ใฆMTPใฎ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚Œใ€MTPๆฌ ๆ็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200857NANDO:1200824
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/264-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Abetalipoproteinemia" + "Glycogen storage diseases type 0" @en
rdfs:label - "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1660 + rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00160http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2404
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157303.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4573https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:altLabel + "Glycogen synthase deficiency" + @en
+ skos:altLabel + "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008692http://purl.obolibrary.org/obo/MONDO_0009414
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017693
skos:prefLabel - "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200858 +
http://nanbyodata.jp/ontology/NANDO_1200825 (rdf:type owl:Class @@ -66872,77 +77863,98 @@

hasNotificationNumber265
- dcterms:description - "่„‚่‚ช่Ž็ธฎ็—‡ใฏๅ…จ่บซๆ€งใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆ€งใซ่„‚่‚ช็ต„็น”ใŒๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ€่„‚่‚ช็ต„็น”ใฎๆถˆๅคฑใจใจใ‚‚ใซ้‡ๅบฆใฎใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ‚„้ซ˜ไธญๆ€ง่„‚่‚ช่ก€็—‡ใ€้žใ‚ขใƒซใ‚ณใƒผใƒซๆ€ง่„‚่‚ช่‚็‚Žใชใฉๆง˜ใ€…ใชไปฃ่ฌ็•ฐๅธธใ‚’็™บ็—‡ใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่‚ช่Ž็ธฎใใฎใ‚‚ใฎใซๅฏพใ™ใ‚‹ๆ นๆฒป็™‚ๆณ•ใฏ้–‹็™บใ•ใ‚Œใฆใ„ใชใ„ใŒใ€่„‚่‚ช่Ž็ธฎใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ‚’ไธญๅฟƒใจใ™ใ‚‹ไปฃ่ฌ็•ฐๅธธใซๅฏพใ—ใฆใฏใ€ใƒฌใƒ—ใƒใƒณใฎๆœ‰ๅŠนๆ€งใŒ่จผๆ˜Žใ•ใ‚Œใ€ใƒฌใƒ—ใƒใƒณ่ฃฝๅ‰คใฎๅธ‚่ฒฉใŒๆœ€่ฟ‘้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200858NANDO:1200825
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Lipodystrophy" + "Glycogen storage diseases type II" @en
rdfs:label - "่„‚่‚ช่Ž็ธฎ็—‡" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01475http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2277
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5332https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:altLabel + "Pompe disease" + @en
+ skos:altLabel + "Pompe็—…" + @ja
+ skos:altLabel + "ใƒใƒณใƒš็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006573http://purl.obolibrary.org/obo/MONDO_0009290
skos:prefLabel - "่„‚่‚ช่Ž็ธฎ็—‡" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200859 +
http://nanbyodata.jp/ontology/NANDO_1200826 (rdf:type owl:Class @@ -66950,65 +77962,98 @@

hasNotificationNumber265hasNotificationNumber256
dcterms:identifier1200859NANDO:1200826
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Generalized congenital lipodystrophy" + "Glycogen storage diseases type III" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5332https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200858http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:altLabel + "Cori disease" + @en
+ skos:altLabel + "Cori็—…" + @ja
+ skos:altLabel + "ใ‚ณใƒผใƒชใƒผ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018883http://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200860 +
http://nanbyodata.jp/ontology/NANDO_1200827 (rdf:type owl:Class @@ -67016,70 +78061,115 @@

hasNotificationNumber265hasNotificationNumber256
dcterms:identifier1200860NANDO:1200827
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Acquired generalized lipodystrophy" + "Glycogen storage diseases type IV" @en
rdfs:label - "ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01474http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1201
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2281
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5332https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200858http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:altLabel + "Andersen disease" + @en
+ skos:altLabel + "Andersen็—…" + @ja
+ skos:altLabel + "ใ‚ขใƒณใƒ€ใƒผใ‚นใƒณ็—…" + @ja
+ skos:altLabel + "ใ‚ขใƒณใƒ€ใƒผใ‚ฝใƒณ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019193http://purl.obolibrary.org/obo/MONDO_0008222
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009292
skos:prefLabel - "ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200861 +
http://nanbyodata.jp/ontology/NANDO_1200828 (rdf:type owl:Class @@ -67087,65 +78177,98 @@

hasNotificationNumber265hasNotificationNumber256
dcterms:identifier1200861NANDO:1200828
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Familial partial lipodystrophy" + "Glycogen storage diseases type V" @en
rdfs:label - "ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†5ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2282
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5332https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200858http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:altLabel + "McArdle disease" + @en
+ skos:altLabel + "McArdle็—…" + @ja
+ skos:altLabel + "ใƒžใƒƒใ‚ซใƒผใƒ‰ใƒซ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020088http://purl.obolibrary.org/obo/MONDO_0009293
skos:prefLabel - "ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200862 +
http://nanbyodata.jp/ontology/NANDO_1200829 (rdf:type owl:Class @@ -67153,70 +78276,98 @@

hasNotificationNumber265hasNotificationNumber256
dcterms:identifier1200862NANDO:1200829
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Partial acquired lipodystrophy" + "Glycogen storage diseases type VII" @en
rdfs:label - "ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†7ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6235http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2284
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5332https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200858http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:altLabel + "Tarui disease" + @en
+ skos:altLabel + "Tarui็—…" + @ja
+ skos:altLabel + "ๅž‚ไบ•็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012104http://purl.obolibrary.org/obo/MONDO_0009295
skos:prefLabel - "ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใงใƒใƒผใŒใŸ" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200863 +
http://nanbyodata.jp/ontology/NANDO_1200830 (rdf:type owl:Class @@ -67224,87 +78375,77 @@

hasNotificationNumber266
- dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever๏ผšFMF๏ผ‰ใฏใ€็‚Ž็—‡็ตŒ่ทฏใฎใฒใจใคใงใ‚ใ‚‹ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ใฎๅƒใใ‚’ๆŠ‘ใˆใ‚‹ใƒ‘ใ‚คใƒชใƒณใฎ็•ฐๅธธใง็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บไฝœๆ€งใฎ็™บ็†ฑใ‚„้šไผด็—‡็Šถใจใ—ใฆๆผฟ่†œ็‚Žใซใ‚ˆใ‚‹ๆฟ€ใ—ใ„็–ผ็—›ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200863NANDO:1200830
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/266-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Familial Mediterranean fever" + "Glycogen storage diseases type IXd" @en
rdfs:label - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2557 + rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00288http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6603
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157155.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4447https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009572http://nanbyodata.jp/ontology/NANDO_1200823
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018088http://purl.obolibrary.org/obo/MONDO_0010362
skos:prefLabel - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹" @ja
- - + - - + + - + - + + + + + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200864 +
http://nanbyodata.jp/ontology/NANDO_1200831 (rdf:type owl:Class @@ -67312,46 +78453,74 @@

hasNotificationNumber266hasNotificationNumber256
dcterms:identifier1200864NANDO:1200831
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/266-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹" + "Phosphoglycerate kinase deficiency" + @en
+ rdfs:label + "ใปใ™ใปใใ‚Šใ›ใ‚Šใ‚“ใ•ใ‚“ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157155.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4447https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200863http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:altLabel + "PGKๆฌ ๆ็—‡" + @ja
+ skos:prefLabel + "ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200865 +
http://nanbyodata.jp/ontology/NANDO_1200832 (rdf:type owl:Class @@ -67359,60 +78528,77 @@

hasNotificationNumber266hasNotificationNumber256
dcterms:identifier1200865NANDO:1200832
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/266-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Atypical familial Mediterranean fever" + "Glycogen storage diseases type X" @en
rdfs:label - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†10ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157155.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2848
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4447https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200863http://nanbyodata.jp/ontology/NANDO_1200823
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009865
skos:prefLabel - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200866 +
http://nanbyodata.jp/ontology/NANDO_1200833 (rdf:type owl:Class @@ -67420,84 +78606,91 @@

hasNotificationNumber267
- dcterms:description - "้ซ˜IgD็—‡ๅ€™็พค๏ผˆHyper IgD Syndrome๏ผšHIDS๏ผ‰ใฏใ€ๅˆฅๅใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผˆMevalonate Kinase Deficiency๏ผšMKD๏ผ‰ใจใ‚‚่จ€ใ„ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMVK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ก€ๆธ…IgDใŒ้ซ˜ๅ€คใงใ‚ใ‚‹็—‡ไพ‹ใŒๅคšใ„ใ“ใจใงๅ‘ฝๅใŒใชใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200866NANDO:1200833
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/267-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Hyper-IgD syndrome" + "Glycogen storage diseases type XI" @en
rdfs:label - "้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†11ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2832http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7271
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157187.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4750https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1200823
skos:altLabel - "Hyperimmunoglobulinemia D and periodic fever syndrome" + "Kanno disease" @en
+ skos:altLabel + "Kanno็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009849http://purl.obolibrary.org/obo/MONDO_0013047
skos:prefLabel - "้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - - - - - - - - - - - - - - - - - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200867 +
http://nanbyodata.jp/ontology/NANDO_1200834 (rdf:type owl:Class @@ -67505,118 +78698,77 @@

hasNotificationNumber268
- dcterms:description - "ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใจ้€ฒ่กŒๆ€งใฎใ‚„ใ›ใƒปๆถˆ่€—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€็‰น็•ฐใช้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใ€‚1939ๅนดใฎไธญๆขใ€1950ๅนดใฎ่ฅฟๆ‘ใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ใ€Œๅ‡็˜กใ‚’ๅˆไฝตใ™ใ‚‹้ชจ้ชจ่†œ็—‡ใ€ใชใฉใฎ็—…ๅใงใ€ๅ’ŒๆญŒๅฑฑใƒปๆณ‰ๅ—ใ‚’ไธญๅฟƒใจใ—ใŸ้–ข่ฅฟใจ้–ขๆฑใƒปๆฑๅŒ—ใ‹ใ‚‰ใ€ใ“ใ‚Œใพใงใซ30ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ใ€€ๅนผๅฐๅ…ๆœŸใซๅ‡็˜กๆง˜็šฎ็–นใซใฆ็™บ็—‡ใ—ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ‚„ๅ‘จๆœŸๆ€ง็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใชใŒใ‚‰ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆ็‰นๆœ‰ใจใ•ใ‚ŒใŸใŒใ€2010ๅนดใซๆœฌ็–พๆ‚ฃใจ่‡จๅบŠ็š„ใซ้…ทไผผใ™ใ‚‹็—‡ไพ‹ใŒJMP็—‡ๅ€™็พคใƒปCANDLE ็—‡ๅ€™็พคใจใ„ใ†็—…ๅใงๆฌง็ฑณใƒปไธญๆฑใ‹ใ‚‰ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚๏ผ“็–พๆ‚ฃใจใ‚‚ใ€ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ่ค‡ๅˆไฝ“ใฎ่ช˜ๅฐŽๅž‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹PSMB8้บไผๅญใซๅค‰็•ฐใฎใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใ‚Œใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅŒไธ€็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200867NANDO:1200834
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/268-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Nakajo-Nishimura syndrome" + "Glycogen storage diseases type XII" @en
rdfs:label - "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†12ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2712http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7017
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157255.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4582https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004
- skos:altLabel - "Autoinflammation, lipodystrophy, and dermatosis syndrome" - @en
- skos:altLabel - "CANDLE syndrome" - @en
- skos:altLabel - "JMP syndrome" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009726
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016849http://nanbyodata.jp/ontology/NANDO_1200823
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017959
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017960
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0054698http://purl.obolibrary.org/obo/MONDO_0012747
skos:prefLabel - "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†13ใŒใŸ" + @ja-Hira - - + + - + - + - + - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200868 +
http://nanbyodata.jp/ontology/NANDO_1200835 (rdf:type owl:Class @@ -67624,101 +78776,77 @@

hasNotificationNumber269
- dcterms:description - "PSTPIP1๏ผˆproline-serine-threonine phosphatase interacting protein 1๏ผˆCD2-binding protein 1๏ผšCD2BP1๏ผ‰๏ผ‰ใฎๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใง็™บ็—‡ใ—ใ€้€ฒ่กŒๆ€งใฎใณใ‚‰ใ‚“ๆ€ง้–ข็ฏ€็‚ŽๅŠใณใ€้›ฃๆฒปๆ€งใฎ็šฎ่†š็—‡็Šถ๏ผˆๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ๆง˜็—…ๅค‰ใ€ๅšข่ƒžๆ€งๅบง็˜ก๏ผ‰ใ‚’ไผดใ†ใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200868NANDO:1200835
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/269-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Pyogenic Arthritis, Pyoderma Gangrenosum, Acne Syndrome" + "Glycogen storage diseases type XIII" @en
rdfs:label - "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4263 + rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00287http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7270
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157159.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4795https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004
- skos:altLabel - "PAPA syndrome" - @en
- skos:altLabel - "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011462http://nanbyodata.jp/ontology/NANDO_1200823
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019673http://purl.obolibrary.org/obo/MONDO_0013046
skos:prefLabel - "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†14ใŒใŸ" + @ja-Hira - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200869 +
http://nanbyodata.jp/ontology/NANDO_1200836 (rdf:type owl:Class @@ -67726,82 +78854,77 @@

hasNotificationNumber270
- dcterms:description - "ๅŽŸๅ› ไธๆ˜Žใชใ€็„ก่Œๆ€งใƒป้ž่…ซ็˜ๆ€งใฎ้ชจใƒป้ชจ้ซ„ใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅค‰ใฏๅ˜็™บๆ€งใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใซ็™บ็—‡ใ—ใ€ๆ€ฅๆ€งใƒปๆ…ขๆ€งใƒปๅ†็™บๆ€งใ„ใšใ‚Œใฎ็ตŒ้Žใ‚‚ใจใ‚Šๅพ—ใ‚‹ใŒใ€ใ“ใฎใ†ใกๅคš็™บๆ€งใซ็™บ็—‡ใ—ๆ…ขๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็—…ๆ…‹ใ‚’ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใจๅ‘ผใถใ€‚็—‡็Šถใจใ—ใฆ้ชจ็—›ๅŠใณใใฎ้ƒจไฝใซไธ€่‡ดใ—ใŸ็šฎ่†šใฎ็†ฑๆ„Ÿใจ็™บ่ตคใ‚’่ชใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200869NANDO:1200836
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/270-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Chronic recurrent multifocal osteomyelitis" + "Glycogen storage diseases type XIV" @en
rdfs:label - "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2798 + rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01117http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8242
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157299.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4465https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1200823
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009813http://purl.obolibrary.org/obo/MONDO_0013968
skos:prefLabel - "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200870 +
http://nanbyodata.jp/ontology/NANDO_1200837 (rdf:type owl:Class @@ -67809,84 +78932,77 @@

hasNotificationNumber271
- dcterms:description - "ไธปใซ่„ŠๆคŽใƒป้ชจ็›ค๏ผˆไป™่…ธ้–ข็ฏ€๏ผ‰ๅŠใณๅ››่‚ขใฎๅคง้–ข็ฏ€ใ‚’ไพตใ™ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใŒ30ๆญณๅ‰ใฎ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€้ ธ๏ฝž่ƒŒ๏ฝž่…ฐๆฎฟ้ƒจใ€่ƒธ้ƒจใ€ใ•ใ‚‰ใซใฏ่‚กใ€่†ใ€่‚ฉ้–ข็ฏ€ใชใฉๅ…จ่บซๅบƒ็ฏ„ๅ›ฒใซ็‚Ž็—‡ๆ€ง็–ผ็—›ใŒๆ‹กใŒใ‚Šใ€ๆฌก็ฌฌใซๅ„้ƒจไฝใฎๆ‹˜็ธฎ๏ผˆ้‹ๅ‹•ๅˆถ้™๏ผ‰ใ‚„ๅผท็›ด๏ผˆ้‹ๅ‹•ๆ€งๆถˆๅคฑ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่บซไฝ“็š„ใฎใฟใชใ‚‰ใšๅฟƒ็†็š„ใƒป็คพไผš็š„ใซใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ๆ‹›ใใ€็‰นใซ่‹ฅๅนด่€…ใงใฏๅฐฑๅญฆใƒปๅฐฑๅŠดใฎๅคงใใช้šœๅฃใจใชใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้ ธๆคŽใ‹ใ‚‰่…ฐๆคŽ๏ผˆ้ชจ็›ค๏ผ‰ใพใงๅ…จ่„ŠๆคŽใŒๅพŒๅผฏ๏ผˆๅ‰ๅฑˆ๏ผ‰ไฝใง้ชจๆ€งใซๅผท็›ดใ—ใฆ้‹ๅ‹•ๆ€งใŒๆถˆๅคฑใ—ใ€ๅ‰ๆ–นใ‚’ๆณจ่ฆ–ใงใใชใ„ใ€ไธŠๆ–นใ‚’่ฆ‹ไธŠใ’ใ‚‰ใ‚Œใชใ„ใ€ๅพŒใ‚ใ‚’ๆŒฏใ‚Šๅ‘ใ‘ใชใ„ใ€ๅ‘จๅ›ฒใ‚’่ฆ‹ๅ›žใ›ใชใ„ใ€้•ทๆ™‚้–“ๅŒใ˜ๅงฟๅ‹ข๏ผˆ็ซ‹ไฝใƒปๅบงไฝใƒป่‡ฅไฝ๏ผ‰ใ‚’็ถญๆŒใ™ใ‚‹ใฎใŒๅ›ฐ้›ฃใซใชใ‚‹ใชใฉใ€ๅคšๅฝฉใ‹ใค็‹ฌ็‰นใฎไฝ“ๅนนๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ•ใ‚‰ใซใฏใ€ใ“ใฎใ‚ˆใ†ใชๆ—ฅๅธธ็”ŸๆดปไธŠใฎไธไพฟใซใจใฉใพใ‚‰ใšใ€่„ŠๆคŽ้ชจๆŠ˜ใ‚„ใ“ใ‚Œใซไผดใ†่„Š้ซ„ๆๅ‚ท๏ผˆ้บป็—บ๏ผ‰ใชใฉๅค–ๅ‚ท็™บ็”Ÿใฎๅฑ้™บๆ€งใ‚‚้ซ˜ใพใ‚‹ใ€‚ใ€€้บไผ็š„่ƒŒๆ™ฏใซใ‚ˆใ‚Šใ€ๆˆ‘ใŒๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏๆฌง็ฑณใซๆฏ”ในๆฅตใ‚ใฆๅฐ‘ใชใใ€ๅŒปๅธซใฎ้–“ใงใ‚‚ๅๅˆ†ใซๅ‘จ็Ÿฅใ•ใ‚Œใฆใ„ใชใ„ใŸใ‚่จบๆ–ญใŒ้…ใ‚ŒใŒใกใจใชใ‚Šใ€ๅˆ็™บใ‹ใ‚‰่จบๆ–ญใพใงใซๅนณๅ‡9.3ๅนดใ‚’่ฆใ—ใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber256
dcterms:identifier1200870NANDO:1200837
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/271-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/256-201704-kojin.pdf
rdfs:label - "Ankylosing spondylitis" + "Glycogen storage diseases type XV" @en
rdfs:label - "ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž" + "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†15ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01674http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7523
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157171.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157175.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4847https://www.nanbyou.or.jp/entry/4711
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008
- skos:altLabel - "Spondylarthritis ankylopoietica" - @enhttp://nanbyodata.jp/ontology/NANDO_1200823
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005306http://purl.obolibrary.org/obo/MONDO_0013291
skos:prefLabel - "ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž" + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹" @ja
- - + - - + + - - - - - + + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200871 +
http://nanbyodata.jp/ontology/NANDO_1200838 (rdf:type owl:Class @@ -67894,87 +79010,86 @@

hasNotificationNumber272hasNotificationNumber257
dcterms:description - "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆFibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๆฏ่ถพๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆœ‰็—…็Ž‡ใฏ200ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "็ณ–ๅŽŸ็—…ใฏ็ณ–ไปฃ่ฌใฎ็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚็ณ–ใ‚’ใ‚จใƒใƒซใ‚ฎใƒผใจใ—ใฆ่“„็ฉใ™ใ‚‹ใŸใ‚ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใธใจๅค‰ๆ›ใ™ใ‚‹็ณปใ€ๅŠใณ่“„็ฉใ—ใŸใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ไปฃ่ฌใ™ใ‚‹็ณปใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š็ณ–ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚้šœๅฎณใ‚’ๅ—ใ‘ใŸ้…ต็ด ใฎ็™บ็พ้ƒจไฝใซใ‚ˆใ‚Š่‚ๅž‹ใƒป็ญ‹ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹็ณ–ๅŽŸ็—…ใซใฏIใ€IIIใ€IVใ€VIใ€IXๅž‹ใŒใ‚ใ‚Šใ€ไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200871
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/272-201704-kojin.pdfNANDO:1200838
rdfs:label - "Fibrodysplasia ossificans progressiva" + "Hepatic Glycogen Storage Disease" @en
rdfs:label - "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=596 + rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00430https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01760
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157215.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/54https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1100002
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003964 + skos:altLabel + "Hepatic glycogenosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007606http://purl.obolibrary.org/obo/MONDO_0002412
skos:prefLabel - "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" + "่‚ๅž‹็ณ–ๅŽŸ็—…" @ja
- - + - - - - - - - - - - - - - + - - - - + "obsolete ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1-3-6-9ใŒใŸ" + @ja-Hira - - - - - - + + - - + + - + + "true" + + xsd:boolean +
http://nanbyodata.jp/ontology/nando#1200872 +
http://nanbyodata.jp/ontology/NANDO_1200839 (rdf:type owl:Class @@ -67982,79 +79097,57 @@

hasNotificationNumber273
- dcterms:description - "ๅฐๅ…ใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅดๅผฏ็—‡ใฏใใฎๅŽŸๅ› ใ‚‚ๆง˜ใ€…ใงใ€ใใฎๆ…‹ๆง˜ใ‚‚ๅ€‹ใ€…ใฎๆ‚ฃ่€…ใ”ใจใงๅคงๅค‰ๅคงใใชๅทฎใŒใ‚ใ‚‹ใ€‚ๆˆ้•ทๆœŸใ€็‰นใซๆ€ๆ˜ฅๆœŸใซๆ‚ชๅŒ–ใ—ใ‚„ใ™ใ„ใŒใ€่„ŠๆŸฑๅค‰ๅฝขใฎๆ‚ชๅŒ–ใŒๅฐ‘ใชใ„ใ‚‚ใฎใฏไบˆๅพŒใ‚‚่‰ฏใQOL๏ผˆ็”Ÿๆดปใฎ่ณช๏ผ‰ใฎ่ฆณ็‚นใ‹ใ‚‰ใ‚‚ๅคงใใชๅ•้กŒใซใฏใชใ‚‰ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅค‰ๅฝขใฎไธญใซใฏใใฎๅค‰ๅฝขๆ‚ชๅŒ–ใŒ่‘—ใ—ใ„็—‡ไพ‹ใŒๅฐ‘ใชใ‹ใ‚‰ใšใ‚ใ‚Šใ€ใใ‚Œใซไผดใ„่ƒธ้ƒญๅค‰ๅฝขใ‚‚้ซ˜ๅบฆใซใชใ‚Šใ€่ƒธ้ƒญๅฎน้‡ใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š่‚บๆˆ้•ทใŒ้˜ปๅฎณใ•ใ‚Œๅ‘ผๅธๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๆ‚ฃ่€…ใซใ‚ˆใฃใฆใฏๆˆ้•ทใซไผดใ„ใ•ใ‚‰ใซๆ‚ชๅŒ–ใ—ใฆใ€ๆœ€็ต‚็š„ใซใฏๆ‹˜ๆŸๆ€งๆ›ๆฐ—้šœๅฎณใ€้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณใชใฉใฎ็—…ๆ…‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใฎ็Šถๆ…‹ใจใชใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซ่„ŠๆŸฑๅค‰ๅฝขใชใฉ็จฎใ€…ใฎๅŽŸๅ› ใงๅฐๅ…ๆˆ้•ทๆœŸใซ้ซ˜ๅบฆ่ƒธ้ƒญๅค‰ๅฝขใŒ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใงใฏใ€็ตๆžœใจใ—ใฆๆญฃๅธธใช่‚บใฎๆˆ้•ทใ‚„ใใฎๅ‘ผๅธๆฉŸ่ƒฝใ‚’ใ‚ตใƒใƒผใƒˆใงใใชใ„็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใใฎๆฒป็™‚ใจใ—ใฆVEPTR๏ผˆVertical Expandable Prosthetic Titanium Rib๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ไบบๅทฅ่‚‹้ชจใŒ้–‹็™บใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎไธญใงใ€็‰นใซไธ€ๆฌกๆ€งใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆคŽ้ชจใจ่‚‹้ชจใฎไธกๆ–นใฎ็™บ็”Ÿๅญฆ็š„็•ฐๅธธใซใ‚ˆใ‚Šๅฝขๆ…‹็š„ๅค‰ๅŒ–ใ‚’ๆฅใ—่„ŠๆŸฑๅค‰ๅฝขใฎใฟใชใ‚‰ใš่ƒธ้ƒญๅค‰ๅฝขใจใใ‚Œใ‚‰ใฎๆˆ้•ท้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆœ€็ต‚็š„ใซใฏๅ‘ผๅธๅ™จ็ณปใฎ้šœๅฎณใ‹ใ‚‰็”Ÿๅ‘ฝใซใ‚‚้‡ๅคงใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎ่‡ช็„ถ็ตŒ้Žใ‚„็—…ๆ…‹ใซใฏๆœชใ ๆœช่งฃๆ˜Žใชใ‚‚ใฎใŒๅคšใ€…ใ‚ใ‚‹ใŒใ€VEPTRใ‚’ไปฃ่กจใจใ—ใŸๆˆ้•ทๆธฉๅญ˜ๆ‰‹่ก“ๆฒป็™‚ใฏใ€ๆœฌ็–พๆ‚ฃใซ็ฝนๆ‚ฃใ—ใŸๅฐๅ…ๆ‚ฃ่€…ใฎๆˆ้•ทๅพŒใฎ็”Ÿๆดปใ‚’ๆ”นๅ–„ใ•ใ›ใ‚‹ใฎใฟใชใ‚‰ใšใ€็”Ÿๅ‘ฝไบˆๅพŒใ‚‚ๆ”นๅ–„ใ•ใ›ใ‚‹ใ“ใจใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @ja
dcterms:identifier1200872
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/273-201704-kojin.pdfNANDO:1200839
rdfs:label - "Congenital Scoliosis with Rib Anomalies" + "obsolete Hepatic glycogen storage disease type I-III-VI-IX" @en
rdfs:label - "่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01851
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157323.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4645 + rdfs:label + "obsolete ่‚ๅž‹็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹" + @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008 + rdfs:subClassofhttp://nanbyodata.jp/ontology/NANDO_0000002
- skos:altLabel + owl:deprecated - "Congenital scoliosis with rib anomaly" - @en
skos:prefLabel - "่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡" + "obsolete ่‚ๅž‹็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹" @ja
- - + - - - - - - + + - + - + - - - - + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใˆใƒผใŒใŸ" + @ja-Hira - - + + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200873 +
http://nanbyodata.jp/ontology/NANDO_1200840 (rdf:type owl:Class @@ -68062,87 +79155,86 @@

hasNotificationNumber274
- dcterms:description - "้ชจๅฝขๆˆไธๅ…จ็—‡๏ผˆOsteogenesis imperfecta๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจ่„†ๅผฑๆ€งใซใ‚ˆใ‚‹ๆ˜“้ชจๆŠ˜ๆ€งใ‚„้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใซๅŠ ใˆใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ็ด„๏ผ’๏ฝž๏ผ“ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2010ๅนด็‰ˆใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃๅ›ฝ้š›ๅˆ†้กžใงใฏใ€Sillenceใซใ‚ˆใ‚‹๏ผ‘ๅž‹๏ผˆ้žๅค‰ๅฝขๅž‹๏ผ‰ใ€๏ผ’ๅž‹๏ผˆๅ‘จ็”ฃๆœŸ่‡ดๆญปๅž‹๏ผ‰ใ€๏ผ“ๅž‹๏ผˆๅค‰ๅฝข้€ฒ่กŒๅž‹๏ผ‰ใ€๏ผ”ๅž‹๏ผˆไธญ็ญ‰็—‡ๅž‹๏ผ‰ใซๅŠ ใˆใฆใ€้ชจ้–“่†œ็Ÿณ็ฐๅŒ–ใƒป้Žๅฝขๆˆไปฎ้ชจใ‚’ไผดใ†ๅž‹๏ผˆ๏ผ•ๅž‹๏ผ‰ใ€ใใฎไป–ใฎๅž‹ใ€ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber257
dcterms:identifier1200873NANDO:1200840
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/274-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Osteogenesis Imperfecta" + "Hepatic Glycogen storage disease type Ia" @en
rdfs:label - "้ชจๅฝขๆˆไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7768
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00506 + rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…Iaๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157195.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4567https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1201018
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013515 + skos:altLabel + "Glycogen storage disease due to glucose-6-phosphatase deficiency" + @en
+ skos:altLabel + "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019019http://purl.obolibrary.org/obo/MONDO_0002413
skos:prefLabel - "้ชจๅฝขๆˆไธๅ…จ็—‡" + "่‚ๅž‹็ณ–ๅŽŸ็—…Iaๅž‹" @ja
- - + - - - - - - + + - + - + + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ" + @ja-Hira - - + + - + - + - + - + + + + + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200874 +
http://nanbyodata.jp/ontology/NANDO_1200841 (rdf:type owl:Class @@ -68150,87 +79242,103 @@

hasNotificationNumber275
- dcterms:description - "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ ๏ผˆthanatophoric dysplasia๏ผ‰ใฏ1967ๅนดใซMaroteauxใ‚‰ใŒ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ—ใŸใ€‚โ€thanatophoricโ€ใจใฏdeath bearingใ€€๏ผˆ่‡ดๆญปๆ€ง๏ผ‰ใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚ฎใƒชใ‚ทใƒฃ่ชžใงใ‚ใ‚‹ใ€‚ไธปใช็‰นๅพดใฏ้•ท็ฎก้ชจ๏ผˆ็‰นใซไธŠ่…•้ชจใจๅคง่…ฟ้ชจ๏ผ‰ใฎ่‘—ๆ˜Žใช็Ÿญ็ธฎใงใ‚ใ‚‹ใ€‚็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญๅ—ๅฎนไฝ“๏ผ“้บไผๅญใฎ็‚น็ช็„ถๅค‰็•ฐใŒๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ใใฎX็ทšๆ‰€่ฆ‹ใ‹ใ‚‰ๅคง่…ฟ้ชจใŒๅฝŽๆ›ฒ๏ผˆๅ—่ฉฑๅ™จ็”จๅค‰ๅฝข๏ผ‰ใ—ใ€้ ญ่“‹้ชจใฎๅค‰ๅฝขใฎใชใ„๏ผ‘ๅž‹ใจใ€ๅคง่…ฟ้ชจใฎๅฝŽๆ›ฒใฏๅฐ‘ใชใใ€้ ญ่“‹้ชจใŒใ‚ฏใƒญใƒผใƒใƒผ่‘‰ๆง˜ใซๅค‰ๅฝขใ—ใŸ๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚ŒใซใŠใ„ใฆใ‚‚่‚‹้ชจใฎ็Ÿญ็ธฎใซใ‚ˆใ‚‹่ƒธ้ƒญไฝŽๅฝขๆˆใงใ€ใƒ™ใƒซ็Šถ่ƒธ้ƒญใจใชใ‚Šใ€้‡ๅบฆใฎๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ใพใŸๅทจๅคง้ ญ่“‹ใจๅ‰้ ญ้ƒจ็ชๅ‡บใ‚’็คบใ—ใ€้ก”้ขใฏๆฏ”่ผƒ็š„ไฝŽๅฝขๆˆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber257
dcterms:identifier1200874NANDO:1200841
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/275-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Thanatophoric dysplasia" + "Hepatic Glycogen storage disease type Ib" @en
rdfs:label - "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1517 + rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…Ibๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01750http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2275
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157241.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4714https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1201018
+ skos:altLabel + "G6P translocase deficiency" + @en
+ skos:altLabel + "G6PT deficiency" + @en
+ skos:altLabel + "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008546http://purl.obolibrary.org/obo/MONDO_0009288
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017042http://purl.obolibrary.org/obo/MONDO_0023258
skos:prefLabel - "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡" + "่‚ๅž‹็ณ–ๅŽŸ็—…Ibๅž‹" @ja
- - + - - + + - + - + + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใˆใƒผใŒใŸ" + @ja-Hira - - + + - + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200875 +
http://nanbyodata.jp/ontology/NANDO_1200842 (rdf:type owl:Class @@ -68238,70 +79346,81 @@

hasNotificationNumber275hasNotificationNumber257
dcterms:identifier1200875NANDO:1200842
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/275-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Thanatophoric dysplasia type 1" + "Hepatic GSD type IIIa" @en
rdfs:label - "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1517 + rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIaๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157241.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4714https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200874http://nanbyodata.jp/ontology/NANDO_1201019
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008546 + skos:altLabel + "Glycogen storage disease due to glycogen debranching enzyme deficiency" + @en
+ skos:altLabel + "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡" + @ja
skos:prefLabel - "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹" + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIaๅž‹" @ja
- - + - - + + - + - + + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใณใƒผใŒใŸ" + @ja-Hira - - + + - + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200876 +
http://nanbyodata.jp/ontology/NANDO_1200843 (rdf:type owl:Class @@ -68309,70 +79428,81 @@

hasNotificationNumber275hasNotificationNumber257
dcterms:identifier1200876NANDO:1200843
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/275-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Thanatophoric dysplasia type 2" + "Hepatic GSD type IIIb" @en
rdfs:label - "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1518 + rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIbๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157241.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4714https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200874http://nanbyodata.jp/ontology/NANDO_1201019
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008547 + skos:altLabel + "Glycogen storage disease due to glycogen debranching enzyme deficiency" + @en
+ skos:altLabel + "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡" + @ja
skos:prefLabel - "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIbๅž‹" @ja
- - + - - - - - - + + - + - + + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใ—ใƒผใŒใŸ" + @ja-Hira - - + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200877 +
http://nanbyodata.jp/ontology/NANDO_1200844 (rdf:type owl:Class @@ -68380,82 +79510,91 @@

hasNotificationNumber276
- dcterms:description - "่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ท็—‡ใ‚’ๅ‘ˆใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใฎไปฃ่กจใงใ€ใŠใ‚ˆใ๏ผ’ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใง็™บ็”Ÿใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจX็ทšๅƒใ‹ใ‚‰่จบๆ–ญใฏๅฎนๆ˜“ใงใ‚ใ‚‹ใŒๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆˆไบบ่บซ้•ทใฏ็”ทๆ€งใง็ด„130cmใ€ๅฅณๆ€งใง็ด„125cmใจไฝŽใ่‘—ๆ˜Žใชๅ››่‚ข็Ÿญ็ธฎใฎใŸใ‚ใ€ๆ‚ฃ่€…ใฏๆ—ฅๅธธ็”Ÿๆดปใงๆง˜ใ€…ใชๅˆถ็ด„ใ‚’ใ†ใ‘ใ‚‹ใ€‚่„ŠๆŸฑ็ฎก็‹ญ็ช„ใฎใŸใ‚ไธญ้ซ˜ๅนดใซใชใ‚‹ใจไธกไธ‹่‚ข้บป็—บใ‚’ๅ‘ˆใ—ใŸใ‚Šใ€ไธ‹่‚ขใ‚ขใƒฉใ‚คใƒกใƒณใƒˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’็™บ็—‡ใ—ๆญฉ่กŒ้šœๅฎณใ‚’็”Ÿใ˜ใŸใ‚Šใ™ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚" - @jahasNotificationNumber257
dcterms:identifier1200877NANDO:1200844
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/276-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Achondroplasia" + "Hepatic GSD type IIIc" @en
rdfs:label - "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8 + rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIcๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01749http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157257.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4570https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100008http://nanbyodata.jp/ontology/NANDO_1201019
+ skos:altLabel + "amylo 1,6- glucosidase deficiency" + @en
+ skos:altLabel + "ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007037http://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIcๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200878 +
http://nanbyodata.jp/ontology/NANDO_1200845 (rdf:type owl:Class @@ -68463,74 +79602,91 @@

hasNotificationNumber277
- dcterms:description - "ไธญๆžข็ฅž็ตŒ็ณปใ‚’้™คใใ€้ชจใ‚„่ƒธ้ƒจ๏ผˆ่‚บใ€็ธฆ้š”ใ€ๅฟƒ่‡“๏ผ‰ใ€่…น้ƒจ๏ผˆ่…น่…”ๅ†…ใ€่„พ่‡“๏ผ‰ใ€็šฎ่†šใ€็šฎไธ‹็ต„็น”ใชใฉๅ…จ่บซ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซ็•ฐๅธธใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎก็ต„็น”ใŒๆตธๆฝคใ™ใ‚‹ๅŽŸๅ› ไธๆ˜ŽใฎๅธŒๅฐ‘ๆ€ง้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใ€่‹ฅๅนด่€…ใซๅคšใ็™บ็—‡ใ™ใ‚‹ใŒๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใ‚„ไบˆๅพŒใฏๆง˜ใ€…ใงใ‚ใ‚‹ใŒใ€่ƒธ้ƒจใซ็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚้ชจๆบถ่งฃใ‚’่ตทใ“ใ™ใ‚ดใƒผใƒใƒ ็—…ใ‚‚ใ€้ชจ็—…ๅค‰ใ ใ‘ใงใชใๅŒๆง˜ใฎๅ†…่‡“็—…ๅค‰ใ‚’ๆŒใคๅ ดๅˆใŒใ‚ใ‚‹ใŸใ‚ใ€้กž็ธ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๆ™‚็‚นใงใฏ๏ผ‘ใคใฎ็–พๆ‚ฃใจใ—ใฆใจใ‚‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏไธ่ฆๅ‰‡ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใŒใ€ๅ†…็šฎ็ดฐ่ƒžใฎMIB-1ใฏ้™ฐๆ€งใง่…ซ็˜ๆ€งใฎๅข—ๆฎ–ใฏ็„กใ„ใ€‚ใพใŸ้‘‘ๅˆฅไธŠๅ•้กŒใจใชใ‚‹ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใใ€ไธ€ๆ–นใงใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏๅคš็™บๆ€งใƒปใณใพใ‚“ๆ€ง๏ผˆๅคš่‡“ๅ™จใซๅŠใถใ€ใƒชใƒณใƒ‘ๆถฒ่ฒฏ็•™ใ‚„ๅ‘จๅ›ฒใฎ็ต„็น”ใซๆตธๆฝคๅ‚พๅ‘ใŒใ‚ใ‚‹ใชใฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใชใŠใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผใ‚ดใƒผใƒใƒ ็—…ใฏใ€ใณใพใ‚“ๆ€งใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใ€ใ‚ดใƒผใƒใƒ ใƒปใ‚นใ‚ฟใ‚ฆใƒˆ็—‡ๅ€™็พคใ€ๅคง้‡้ชจๆบถ่งฃ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber257
dcterms:identifier1200878NANDO:1200845
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/277-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Lymphangiomatosis / Gorham-Stout Disease" + "Hepatic GSD type IIId" @en
rdfs:label - "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—…" + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIdๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157316.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4636https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1201019
skos:altLabel - "Lymphangiomatosis/Gorham disease" + "4-alpha-glucanotransferase deficiency" @en
+ skos:altLabel + "ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—…" + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIdๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200879 +
http://nanbyodata.jp/ontology/NANDO_1200846 (rdf:type owl:Class @@ -68538,77 +79694,105 @@

hasNotificationNumber277hasNotificationNumber257
dcterms:identifier1200879NANDO:1200846
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/277-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Lymphangiomatosis" + "Hepatic Glycogen storage disease type VI" @en
rdfs:label - "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡" + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†6ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…VIๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01735http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2283
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157316.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4636https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200878http://nanbyodata.jp/ontology/NANDO_1200839
skos:altLabel - "Generalized lymphatic anomaly" + "Hepatic phosphorylase deficiency" + @en
+ skos:altLabel + "Hers disease" @en
+ skos:altLabel + "ใƒใƒผใ‚น็—…" + @ja
+ skos:altLabel + "่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015408http://purl.obolibrary.org/obo/MONDO_0009294
skos:prefLabel - "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡" + "่‚ๅž‹็ณ–ๅŽŸ็—…VIๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200880 +
http://nanbyodata.jp/ontology/NANDO_1200847 (rdf:type owl:Class @@ -68616,82 +79800,98 @@

hasNotificationNumber277hasNotificationNumber257
dcterms:identifier1200880NANDO:1200847
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/277-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Gorham disease" + "Hepatic Glycogen storage disease type IXa" @en
rdfs:label - "ใ‚ดใƒผใƒใƒ ็—…" + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใˆใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IXaๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=387http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3422
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157316.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4636https://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200878http://nanbyodata.jp/ontology/NANDO_1201020
skos:altLabel - "Gorham-Stout disease" + "Hepatic Glycogen storage disease type IX a" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003157 + skos:altLabel + "ฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚ๅž‹๏ผ‰" + @ja
+ skos:altLabel + "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007414http://purl.obolibrary.org/obo/MONDO_0010598
skos:prefLabel - "ใ‚ดใƒผใƒใƒ ็—…" + "่‚ๅž‹็ณ–ๅŽŸ็—…IXaๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "ฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚็ญ‹ๅž‹๏ผ‰" + @ja + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200881 +
http://nanbyodata.jp/ontology/NANDO_1200848 (rdf:type owl:Class @@ -68699,81 +79899,98 @@

hasNotificationNumber278
- dcterms:description - "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ใฏ้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจใซๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎใƒชใƒณใƒ‘็ฎกๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€ใ‚ดใƒผใƒใƒ ็—…๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผ‰ใจใฏ็•ฐใชใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธญๅฟƒใซๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜คๆ€ง็—…ๅค‰ใงใ€ๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใ„ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญใƒปๆฒป็™‚ใซๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็‰นใซ็—…ๅค‰ใŒๅคงใใๅบƒ็ฏ„ๅ›ฒใซๅบƒใŒใ‚‹ใ‚‚ใฎใฏ้›ฃๆฒปๆ€งใงใ€ๆฉŸ่ƒฝ้ขใฎใฟใชใ‚‰ใšๆ•ดๅฎน้ขใ‹ใ‚‰ใ‚‚ๆ‚ฃ่€…ใฎQOLใฏ่‘—ใ—ใๅˆถ้™ใ•ใ‚Œใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใ€่…น่…”ใƒปๅพŒ่…น่†œๅ†…ใ€ๅ››่‚ขใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคง็—…ๅค‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ็ฅž็ตŒใ‚„ไป–ใฎไธป่ฆใช่„ˆ็ฎกใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ใŒๅ›ฐ้›ฃใจใชใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไป–้ƒจไฝใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚็—…ๅค‰ๅ†…ใฎใƒชใƒณใƒ‘ๅšข่ƒžใฎๅคงใใ•ใ‚„็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Šไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅฎŒๆฒปใฏใปใผไธๅฏ่ƒฝใงใ€ๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber257
dcterms:identifier1200881NANDO:1200848
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/278-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Giant Lymphatic Malformation ๏ผˆCervicofacial Lesion๏ผ‰" + "Hepatic glycogen storage disease type IXb" @en
rdfs:label - "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰" + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IXbๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157174.dochttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2851
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4892https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1201020
skos:altLabel - "Huge Lymphatic malformation" + "Hepatic glycogen storage disease type IX b" @en
skos:altLabel - "Huge Lymphatic malformation with cervicofacial lesion" - @en
+ skos:altLabel + "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009868
skos:prefLabel - "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰" + "่‚ๅž‹็ณ–ๅŽŸ็—…IXbๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "ฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚ๅž‹๏ผ‰" + @ja + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200882 +
http://nanbyodata.jp/ontology/NANDO_1200849 (rdf:type owl:Class @@ -68781,81 +79998,98 @@

hasNotificationNumber279
- dcterms:description - "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎๅ…จ้ ˜ๅŸŸใซใณใพใ‚“ๆ€ง้€ฃ็ถšๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใซ็ตฑไธ€ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€งๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ไธๅฏ่ƒฝใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber257
dcterms:identifier1200882NANDO:1200849
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/279-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
rdfs:label - "Giant Venous Malformation ๏ผˆCervical, Oral and Oropharyngeal Diffuse Lesion๏ผ‰" + "Hepatic glycogen storage disease type IXc" @en
rdfs:label - "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰" + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใ—ใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IXcๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157172.dochttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7312
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4756https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1201020
skos:altLabel - "Huge venous malformation" + "Hepatic glycogen storage disease type IX c" @en
skos:altLabel - "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion" - @en
+ skos:altLabel + "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013091
skos:prefLabel - "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰" + "่‚ๅž‹็ณ–ๅŽŸ็—…IXcๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + + + + + - + + "ใ‚ขใƒŸใƒญ1๏ผŒ4โ†’1๏ผŒ6ใƒˆใƒฉใƒณใ‚นใ‚ฐใƒซใ‚ณใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja - - + +
http://nanbyodata.jp/ontology/nando#1200883 +
http://nanbyodata.jp/ontology/NANDO_1200850 (rdf:type owl:Class @@ -68863,81 +80097,89 @@

hasNotificationNumber280
- dcterms:description - "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจๅˆใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขใฎๅบƒ็ฏ„ๅ›ฒใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎๅ‹•้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆAVM๏ผ‰ใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก๏ผˆใ‚ทใƒฃใƒณใƒˆ๏ผ‰ใ‚’ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†้ซ˜ๆต้€Ÿ่ก€็ฎกๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆไธ€่‚ขใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€้‡ๅบฆใฎๆŒ็ถš็š„็–ผ็—›ใ€ๆ‚ฃ่‚ขใฎ่™š่ก€ๅฃŠๆญปใ€ๅ››่‚ขๆฉŸ่ƒฝไธๅ…จใชใฉใ‚’ๆฅใ™ใ€‚ใ•ใ‚‰ใซไธก่€…ใจใ‚‚ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใงใฏ็—…ๅค‰ใฎๅ†็™บ้€ฒ่กŒใŒๆ—ฉใใ€ๆฒป็™‚ๅŠนๆžœใฏไธ€ๆ™‚็š„ใจใชใ‚Šใ€ใ‚€ใ—ใ‚ๆ‚ชๅŒ–ใซใ„ใŸใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎๅฐ็—…ๅค‰ใงใฏๆ‚ฃ่‚ขๅˆ‡ๆ–ญใซใ‚ˆใ‚Š็—…ๅค‰้™คๅŽปใŒๅฏ่ƒฝใจใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏ่‚ก้–ข็ฏ€ใ‚„่‚ฉ้–ข็ฏ€ไป˜่ฟ‘ใพใง็—…ๅค‰ใŒๅŠใถใŸใ‚ๆ‚ฃ่‚ขๅˆ‡ๆ–ญ่ก“่‡ชไฝ“ใซ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใฎๅฑ้™บๆ€งใŒใ‚ใ‚Šใ€ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๅˆ‡ๆ–ญไธ่ƒฝใงใ‚ใ‚‹ใ“ใจใฏ่‡ชๆ˜Žใงใ‚ใ‚Šใ€ๅบƒ็ฏ„ๅ›ฒๅˆ‡้™คใฏ่‡ดๆญป็š„ๅ‡บ่ก€ใ‚„้ก”้ขใƒป้ผป่…”ใƒปๅฃ่…”ใƒป้ š้ƒจใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ใ€ใ“ใ‚Œใ‚‚ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ใชใŠ่„ณ๏ฝฅ่„Š้ซ„ใจใ„ใฃใŸไธญๆžข็ฅž็ตŒ็ณปใŒไธปไฝ“ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใใ‚Œไปฅๅค–ใฎ้ƒจไฝใจใฏ่จบๆ–ญ๏ฝฅ็ตŒ้Žใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใฃใฆใŠใ‚Šใ€ๆŒ‡ๅฎš้›ฃ็—…ใจใ—ใฆใฏ้ š้ƒจ้ก”้ขใƒปๅ››่‚ขใฎๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber257
dcterms:identifier1200883NANDO:1200850
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/280-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-02-201704-kojin.pdf
rdfs:label - "Giant Arteriovenous Malformation ๏ผˆCervicofacial / Limb Lesion๏ผ‰" + "Hepatic Glycogen storage disease type IV" @en
rdfs:label - "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰" + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157173.dochttp://nanbyodata.jp/ontology/NANDO_2201159
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4630http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2281
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1200839
skos:altLabel - "Huge arteriovenous malformation" - @en
- skos:altLabel - "Huge arteriovenous malformation with cervicofacial or limb lesion" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009292
skos:prefLabel - "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰" + "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + + + + + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200884 +
http://nanbyodata.jp/ontology/NANDO_1200851 (rdf:type owl:Class @@ -68945,82 +80187,129 @@

hasNotificationNumber281hasNotificationNumber258
dcterms:description - "ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€่ปŸ้ƒจใƒปไฝ“่กจใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ˜็ด”ๅž‹ใฎไธญใซใฏ้™่„ˆๅฅ‡ๅฝขใ€ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ็˜ป๏ผ‰ใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใŒๅซใพใ‚Œใ€ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆๆททๅˆๅž‹่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใฏใ“ใ‚Œใ‚‰ใฎ็ต„ใฟๅˆใ‚ใ›ใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่‡ช็„ถ้€€็ธฎใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒใ—ใ€็–ผ็—›ใ‚„ๆฝฐ็˜ใ€ๆ‚ฃ่‚ขใฎๆˆ้•ท็•ฐๅธธใ€ๆฉŸ่ƒฝ้šœๅฎณใ€ๆ•ดๅฎนไธŠใฎๅ•้กŒ็ญ‰ใซใ‚ˆใ‚Š้•ทๆœŸใซใ‚ใŸใ‚Šๆ‚ฃ่€…ใฎQOLใ‚’ๆใชใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซใฏใ€ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹็—…ๅค‰ใ‚„ใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹็—…ๅค‰ใชใฉๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅ‰่€…ใจๅพŒ่€…ใงใฏ็—…ๆ…‹ใ‚„ๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚‹ใ€‚ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€ๅคๅ…ธ็š„ใซใฏใ€ๅ››่‚ขใฎ็‰‡ๅด่‚ฅๅคงใ€็šฎ่†šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ไบŒๆฌกๆ€ง้™่„ˆ็˜คใ€ใ‚’ไธ‰ๅพดใจใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใฏไฝŽๆต้€Ÿๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆ้™่„ˆๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใ€้ซ˜ๆต้€Ÿ็—…ๅค‰๏ผˆๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจๅˆ†ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใจใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใ‚’ๅŽณๅฏ†ใซๅŒบๅˆ†ใ™ใ‚‹ใ“ใจใฏ็‰นใซๅฐๅ…ไพ‹ใงใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆœฌๅฏพ่ฑก็–พ็—…ใจใ—ใฆใฏใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚ๅˆๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใ‚„ๅทจๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใชใฉใฎๆŒ‡่ถพๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่„š้•ทๅทฎใŒ้ซ˜ๅบฆใซใชใ‚‹ใจ่ท›่กŒใ‚„ไปฃๅ„Ÿๆ€ง่„ŠๆคŽๅดๅฝŽ็—‡ใ‚’ๆฅใ™ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฏใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚Šใ€ๅ‡ๅ›บ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“๏ผˆ้ชจ็ซฏ็ทšๆˆ้•ทๆŠ‘ๅˆถ่ก“ใ€้ชจๅปถ้•ท่ก“๏ผ‰ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใƒปๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚" + "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅˆใฏๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200884NANDO:1200851
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/281-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/258-201704-kojin.pdf
rdfs:label - "Klippel-Trenaunay-Weber syndrome" + "Galactose-1-phosphate Uridyltransferase Deficiency" @en
rdfs:label - "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" + "ใŒใ‚‰ใใจใƒผใ™1ใ‚Šใ‚“ใ•ใ‚“ใ†ใ‚Šใ˜ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=855http://nanbyodata.jp/ontology/NANDO_2200532
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01788http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2246
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198084.dochttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02008
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4600https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157161.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4828
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "GALT deficiency" + @en
+ skos:altLabel + "GALTๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "Galactose-1-phosphate uridylyltransferase deficiency" + @en
+ skos:altLabel + "Galactosemia type 1" + @en
+ skos:altLabel + "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น่ก€็—‡I ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007864http://purl.obolibrary.org/obo/MONDO_0009258
skos:prefLabel - "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" + "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200885 +
http://nanbyodata.jp/ontology/NANDO_1200852 (rdf:type owl:Class @@ -69028,77 +80317,108 @@

hasNotificationNumber282hasNotificationNumber259
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€๏ผˆCongenital dyserythropoietic anemia๏ผšCDA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ๅŠใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆlecithin cholesterol acyl transferase๏ผšLCAT๏ผ‰ๆฌ ๆ็—‡ใฏใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฎใจใ“ใ‚ไธ–็•Œใง80็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใจใ‚Šใ‚ใ‘ใ€ๅŒ—ๆฌงใ‚„ๆˆ‘ใŒๅ›ฝใงใฎๅ ฑๅ‘ŠใŒๅคšใ„ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใช้…ต็ด  LCATใฎ้…ต็ด ๆฌ ๆใ‚„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€้Š้›ขใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒฌใ‚ทใƒใƒณ๏ผˆใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณ๏ผ‰ใŒๅข—ๅŠ ใ—ใ€ใใฎ็ตๆžœHDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่‘—ๅใชไฝŽไธ‹ๅŠใณ่ก€ๆธ…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚็ต„ๆˆใฎๅค‰ๅŒ–ใ—ใŸใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใŒ็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใงใ€่ง’่†œๆททๆฟใ€ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่…Ž้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚" @ja
dcterms:identifier1200885NANDO:1200852
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/259-201704-kojin.pdf
rdfs:label - "Congenital dyserythropoietic anemia" + "Lecithin Cholesterol Acyltransferase Deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + "ใ‚Œใ—ใกใ‚“ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‚ใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00917http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2505
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00158
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4363https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157319.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4546
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "LCAT deficiency" + @en
+ skos:altLabel + "LCATๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019403http://purl.obolibrary.org/obo/MONDO_0009515
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018999
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + "ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200886 +
http://nanbyodata.jp/ontology/NANDO_1200853 (rdf:type owl:Class @@ -69106,65 +80426,96 @@

hasNotificationNumber282hasNotificationNumber260
+ dcterms:description + "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ใจใ‚‹้บไผๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚Šใ€ๆžœ็‰ฉใ‚„้‡Ž่œใซๅซใพใ‚Œใ‚‹ๆค็‰ฉใ‚นใƒ†ใƒญใƒผใƒซใฎไธ€็จฎใงใ‚ใ‚‹ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใฎๆŽ’ๆณ„ไฝŽไธ‹ใซใ‚ˆใ‚Š่ก€ไธญๅˆใฏ็ต„็น”ใซใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซใ‚„ๆ—ฉ็™บๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใจใ„ใฃใŸ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200886NANDO:1200853
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/260-201704-kojin.pdf
rdfs:label - "Congenital dyserythropoietic anemia type I" + "Sitosterolemia" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I" + "ใ—ใจใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1834
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4363https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00152
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157205.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4857
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200885http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "Sitosterolaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020337http://purl.obolibrary.org/obo/MONDO_0008863
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I" + "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200887 +
http://nanbyodata.jp/ontology/NANDO_1200854 (rdf:type owl:Class @@ -69172,70 +80523,89 @@

hasNotificationNumber282hasNotificationNumber261
+ dcterms:description + "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…ใฏใ€่ก€ๆธ…HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใƒปใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-๏ผฉๆฟƒๅบฆใŒ่‘—ใ—ใ„ไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Šใ€HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๆฌ ๆ็—‡ใฎใปใ‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๅ’ฝ้ ญๆ‰ๆกƒ่…ซๅคงใ€่‚่„พ่…ซใ€่ง’่†œๆททๆฟใ€ๆœซๆขข็ฅž็ตŒ้šœๅฎณใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-๏ผฉใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซใŠใ„ใฆ้‡่ฆใชATP binding cassette transporter A1๏ผˆABCA1๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ–็•Œ็š„ใซใ‚‚ใพใ‚Œใงๆˆ‘ใŒๅ›ฝใงใฏ10ๅฎถ็ณป็จ‹ๅบฆใฎๅ ฑๅ‘Šใ—ใ‹ใชใ„ใ€‚่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๆฅใ™ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200887NANDO:1200854
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/261-201704-kojin.pdf
rdfs:label - "Congenital dyserythropoietic anemia type II" + "Tangier disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II" + "ใŸใ‚“ใ˜ใƒผใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2118http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1753
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00159
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4363https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157244.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4585
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200885http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009134http://purl.obolibrary.org/obo/MONDO_0008783
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II" + "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200888 +
http://nanbyodata.jp/ontology/NANDO_1200855 (rdf:type owl:Class @@ -69243,70 +80613,96 @@

hasNotificationNumber282hasNotificationNumber262
+ dcterms:description + "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณไปฃ่ฌใซๅฟ…่ฆใช้…ต็ด ใฎๆฌ ๆใ‚„ใ€่ผธ้€่›‹็™ฝใฎๆฌ ๆใชใฉใซใ‚ˆใ‚Šใ€่ก€ไธญใซ็•ฐๅธธใซใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซ๏ผˆ็™บ็–นๆ€ง้ป„่‰ฒ่…ซ๏ผ‰ใ‚„ใ€ๆ™‚ใซๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ•ใ›ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณช็•ฐๅธธ็—‡ใฎWHOๅˆ†้กžใงใฏIๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎๅข—ๅŠ ๏ผ‰ๅŠใณVๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใจVLDLใฎๅข—ๅŠ ๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’็คบใ™ใ€‚ใ€€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใจใ—ใฆใ€ใƒชใƒ่›‹็™ฝใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏC-IIๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-Vๆฌ ๆ็—‡ใ€GPIHBP1ๆฌ ๆ็—‡ใ€LMF1ๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€ง๏ผถๅž‹้ซ˜่„‚่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใ‚‚่ก€ๆธ…ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ไธŠๆ˜‡ใซใ‚ˆใ‚Šๆ€ฅๆ€ง่†ต็‚Žใฎ็™บ็—‡ใƒป้‡็—‡ๅŒ–ใƒชใ‚นใ‚ฏใŒ้ซ˜ใใชใ‚‹ใ€‚" + @ja
dcterms:identifier1200888NANDO:1200855
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/262-201704-kojin.pdf
rdfs:label - "Congenital dyserythropoietic anemia type III" + "Primary hyperchylomicronemia" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III" + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ„ใ‚ใฟใใ‚ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=84http://nanbyodata.jp/ontology/NANDO_2200601
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01784
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4363https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157186.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4883
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200885http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "Primary hyperchylomicronaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007109http://purl.obolibrary.org/obo/MONDO_0018637
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III" + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200889 +
http://nanbyodata.jp/ontology/NANDO_1200856 (rdf:type owl:Class @@ -69314,77 +80710,89 @@

hasNotificationNumber283hasNotificationNumber263
dcterms:description - "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ๅŠใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็—…ๅ› ใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚่ตค่Šฝ็ƒ็™†ใฎ็—…ๅž‹ๅˆ†้กžใจใ—ใฆๅคงใใใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚" + "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡๏ผˆ27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใฏใ€ใ‚ทใƒˆใ‚ฏใƒญใƒ P-450๏ผˆCYP๏ผ‰้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚ŠCYP่›‹็™ฝใงใ‚ใ‚‹27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆCYP27๏ผ‰ๆดปๆ€งใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฅž็ตŒ็ต„็น”ใ‚„่…ฑ็ต„็น”ใซ่“„็ฉใ—ใŸ่„‚่ณชๆˆๅˆ†ใŒใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅŠใณใ‚ณใƒฌใ‚นใ‚ฟใƒŽใƒผใƒซ๏ผˆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใซ้กžไผผใ—ใŸๆง‹้€ ใ‚’็คบใ™็‰ฉ่ณช๏ผ‰ใงใ‚ใฃใŸใ“ใจใ‹ใ‚‰ใ€ๅ…ˆๅคฉๆ€งใ‚นใƒ†ใƒญใƒผใƒซ่“„็ฉ็—‡ใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏ60ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใฟใ‚‰ใ‚Œใ€20ๆญณไปฅๅ‰ใซๅคšใใŒ็™บ็—‡ใ—ใ€ๅนณๅ‡ๅนด้ฝขใŒ็”ทๆ€ง40.4ๆญณใ€ๅฅณๆ€ง36.8ๆญณใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็Ÿฅ่ƒฝไฝŽไธ‹ใƒป้Œ˜ไฝ“่ทฏ็—‡็Šถใƒปๅฐ่„ณ็—‡็Šถใชใฉใฎ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณใ€ใ‚ขใ‚ญใƒฌใ‚น่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ€ๆ—ฉ็™บๆ€งๅฟƒ่ก€็ฎก็–พๆ‚ฃใชใฉใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200889NANDO:1200856
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/283-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/263-201704-kojin.pdf
rdfs:label - "Acquired pure red cell aplasia" + "Cerebrotendinous xanthomatosis" @en
rdfs:label - "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" + "ใฎใ†ใ‘ใ‚“ใŠใ†ใ—ใ‚‡ใใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01586http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1925
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157193.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00151
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4450https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157263.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4618
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020338http://purl.obolibrary.org/obo/MONDO_0008948
skos:prefLabel - "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" + "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200890 +
http://nanbyodata.jp/ontology/NANDO_1200857 (rdf:type owl:Class @@ -69392,72 +80800,108 @@

hasNotificationNumber284hasNotificationNumber264
dcterms:description - "่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ด„ๅŠๆ•ฐใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ใฏ่‘—ใ—ใ„ไฝŽใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ๅŠใณไฝŽใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’ๆฅใ™ใ€ใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒBๅซๆœ‰ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใ€VLDLใ€LDLใŒๆฌ ๅฆ‚ใ—ใฆใŠใ‚Šใ€ๆ‚ฃ่€…่ก€ไธญใซใ‚ขใƒBใฏใ‚ขใƒB-48ใ€ใ‚ขใƒB-100ใจใ‚‚ใซ่ชใ‚ใชใ„ใ€‚่„‚่‚ชๅธๅŽ้šœๅฎณใจใใ‚Œใซใ‚ˆใ‚‹่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไน็—‡ใŒๆŽˆไนณ้–‹ๅง‹ๆ™‚ใ‚ˆใ‚ŠๆŒ็ถšใ™ใ‚‹ใŸใ‚ใ€้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้•ทๆœŸใซ็ถ™็ถšใ—ใชใ„ใจไธๅฏ้€†็š„ใช็œผ็—‡็Šถใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ—ใ†ใ‚‹ใ€‚1993ๅนดใซๆœฌ็–พๆ‚ฃใซใŠใ„ใฆMTPใฎ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚Œใ€MTPๆฌ ๆ็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200890NANDO:1200857
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/284-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/264-201704-kojin.pdf
rdfs:label - "Diamond-Blackfan Anaemia" + "Abetalipoproteinemia" @en
rdfs:label - "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€" + "ใ‚€ในใƒผใŸใ‚ŠใฝใŸใ‚“ใฑใใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00237http://nanbyodata.jp/ontology/NANDO_2200604
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157239.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1660
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4420https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00160
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157303.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4574
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "Abetalipoproteinaemia" + @en
+ skos:altLabel + "MTPๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008692
skos:prefLabel - "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€" + "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200891 +
http://nanbyodata.jp/ontology/NANDO_1200858 (rdf:type owl:Class @@ -69465,87 +80909,96 @@

hasNotificationNumber285hasNotificationNumber265
dcterms:description - "ๆŸ“่‰ฒไฝ“ใฎ่„†ๅผฑๆ€งใ‚’่ƒŒๆ™ฏใซใ€๏ผ‘)้€ฒ่กŒๆ€งๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใ‚„็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€๏ผ“๏ผ‰่บซไฝ“ๅฅ‡ๅฝขใ€๏ผ”๏ผ‰ๅ›บๅฝขใŒใ‚“ใฎๅˆไฝตใ‚’ๆฅใ™ใ“ใจใฎใ‚ใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่„‚่‚ช่Ž็ธฎ็—‡ใฏๅ…จ่บซๆ€งใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆ€งใซ่„‚่‚ช็ต„็น”ใŒๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ€่„‚่‚ช็ต„็น”ใฎๆถˆๅคฑใจใจใ‚‚ใซ้‡ๅบฆใฎใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ‚„้ซ˜ไธญๆ€ง่„‚่‚ช่ก€็—‡ใ€้žใ‚ขใƒซใ‚ณใƒผใƒซๆ€ง่„‚่‚ช่‚็‚Žใชใฉๆง˜ใ€…ใชไปฃ่ฌ็•ฐๅธธใ‚’็™บ็—‡ใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่‚ช่Ž็ธฎใใฎใ‚‚ใฎใซๅฏพใ™ใ‚‹ๆ นๆฒป็™‚ๆณ•ใฏ้–‹็™บใ•ใ‚Œใฆใ„ใชใ„ใŒใ€่„‚่‚ช่Ž็ธฎใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ‚’ไธญๅฟƒใจใ™ใ‚‹ไปฃ่ฌ็•ฐๅธธใซๅฏพใ—ใฆใฏใ€ใƒฌใƒ—ใƒใƒณใฎๆœ‰ๅŠนๆ€งใŒ่จผๆ˜Žใ•ใ‚Œใ€ใƒฌใƒ—ใƒใƒณ่ฃฝๅ‰คใฎๅธ‚่ฒฉใŒๆœ€่ฟ‘้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚" @ja
dcterms:identifier1200891NANDO:1200858
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/285-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdf
rdfs:label - "Fanconi anemia" + "Lipodystrophy" @en
rdfs:label - "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" + "ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„‚่‚ช่Ž็ธฎ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2202http://nanbyodata.jp/ontology/NANDO_2200404
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00238https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01475
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157280.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4441https://www.nanbyou.or.jp/entry/5332
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100002
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009215 + skos:altLabel + "่„‚่‚ช็•ฐๆ „้คŠ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019391http://purl.obolibrary.org/obo/MONDO_0006573
skos:prefLabel - "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" + "่„‚่‚ช่Ž็ธฎ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200892 +
http://nanbyodata.jp/ontology/NANDO_1200859 (rdf:type owl:Class @@ -69553,72 +81006,77 @@

hasNotificationNumber286
- dcterms:description - "้ชจ้ซ„ใซใŠใ„ใฆใ€ๆ ธใฎๅ‘จๅ›ฒใซ็’ฐ็Šถใซ้‰„ใŒๆฒˆ็€ใ—ใŸ่ตค่Šฝ็ƒ๏ผˆ็’ฐ็Šถ้‰„่Šฝ็ƒ๏ผ‰ใฎๅ‡บ็พใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ฒง่ก€ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใซไปฃ่กจใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฎ้‘‘ๅˆฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ„ใฆใฏ่ตค่ก€็ƒใซใŠใ‘ใ‚‹ใƒ˜ใƒ ๅˆๆˆใฎๅˆ็™บ้…ต็ด ใงใ‚ใ‚‹่ตค่ก€็ƒๅž‹ใ‚ขใƒŸใƒŽใƒฌใƒ–ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใฏXๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€งใฎ้บไผๅฝขๅผใ‚’ใจใ‚Šใ€็”ทๅ…ใซใฎใฟใซ็™บ็—‡ใ™ใ‚‹ใ€‚" - @jahasNotificationNumber265
dcterms:identifier1200892NANDO:1200859
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/286-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdf
rdfs:label - "Hereditary sideroblastic anemia" + "Generalized congenital lipodystrophy" @en
rdfs:label - "้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00982 + rdfs:label + "ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157136.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4405https://www.nanbyou.or.jp/entry/5332
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1200858
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006536
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018883
skos:prefLabel - "้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + "ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ“ใ†ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200893 +
http://nanbyodata.jp/ontology/NANDO_1200860 (rdf:type owl:Class @@ -69626,87 +81084,77 @@

hasNotificationNumber287
- dcterms:description - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พคใฏใ€MYH9้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใฎใฒใจใคใงใ€ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ€้€ฒ่กŒๆ€ง่…Ž้šœๅฎณ๏ผˆๅทฃ็Šถ็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใชใฉ๏ผ‰ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็™ฝๅ†…้šœใ‚’ใจใ‚‚ใชใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber265
dcterms:identifier1200893NANDO:1200860
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/287-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdf
rdfs:label - "Epstein syndrome" + "Acquired generalized lipodystrophy" @en
rdfs:label - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=920 + rdfs:label + "ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00578https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01474
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157147.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4651https://www.nanbyou.or.jp/entry/5332
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007954http://nanbyodata.jp/ontology/NANDO_1200858
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015912http://purl.obolibrary.org/obo/MONDO_0019193
skos:prefLabel - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" + "ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200894 +
http://nanbyodata.jp/ontology/NANDO_1200861 (rdf:type owl:Class @@ -69714,60 +81162,77 @@

hasNotificationNumber287hasNotificationNumber265
dcterms:identifier1200894NANDO:1200861
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/287-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdf
rdfs:label - "severe Epstein syndrome" + "Familial partial lipodystrophy" @en
rdfs:label - "ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" + "ใ‹ใžใใ›ใ„ใถใถใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157147.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00420
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4651https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5332
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200893http://nanbyodata.jp/ontology/NANDO_1200858
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020088
skos:prefLabel - "ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" + "ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" @ja
- - + - - + + - + - + + + + + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200895 +
http://nanbyodata.jp/ontology/NANDO_1200862 (rdf:type owl:Class @@ -69775,46 +81240,77 @@

hasNotificationNumber287hasNotificationNumber265
dcterms:identifier1200895NANDO:1200862
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/287-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/265-201704-kojin.pdf
rdfs:label - "ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" + "Partial acquired lipodystrophy" + @en
+ rdfs:label + "ใ“ใ†ใฆใ‚“ใ›ใ„ใถใถใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157147.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6235
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4651https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157207.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5332
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200893http://nanbyodata.jp/ontology/NANDO_1200858
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012104
+ skos:prefLabel + "ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200896 +
http://nanbyodata.jp/ontology/NANDO_1200863 (rdf:type owl:Class @@ -69822,74 +81318,96 @@

hasNotificationNumber288hasNotificationNumber266
dcterms:description - "่ก€ๆถฒใŒๅ‡ๅ›บใ™ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใงใ‚ใ‚‹ๅ‡ๅ›บๅ› ๅญใŒใ€ๅ…ˆๅคฉๆ€งใ‚„้บไผๆ€งใงใฏใชใ„็†็”ฑใง่‘—ใ—ใๆธ›ๅฐ‘ใ™ใ‚‹ใŸใ‚ใ€ๆญข่ก€ใฎใŸใ‚ใฎๆญข่ก€ๆ “ใŒใงใใซใใใชใฃใŸใ‚Šใ€ๅผฑใใชใฃใฆ็ฐกๅ˜ใซๅฃŠใ‚Œใ‚„ใ™ใใชใ‚Šใ€่‡ช็„ถใซใ‚ใ‚‹ใ„ใฏ่ปฝใ„ๆ‰“ๆ’ฒใชใฉใงใ•ใˆ้‡ใ„ๅ‡บ่ก€ใ‚’่ตทใ“ใ™็–พ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆฌ ไนใ™ใ‚‹ๅ‡ๅ›บๅ› ๅญใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€๏ผ‘๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXIII๏ผ13ๅ› ๅญ๏ผˆF13๏ผ‰ๆฌ ไน็—‡๏ผˆๆ—ง็งฐ๏ผš่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII๏ผ‰ใ€ใ€๏ผ’๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌVIII๏ผ8ๅ› ๅญ๏ผˆF8๏ผ‰ๆฌ ไน็—‡๏ผˆๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A๏ผ‰ใ€ใ€๏ผ“๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆvon Willebrand factor๏ผšVWF๏ผ‰ๆฌ ไน็—‡๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…๏ผˆvon Willebrand Disease๏ผšVWD๏ผ‰๏ผ‰ใ€ใ€๏ผ”๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌV๏ผ5ๅ› ๅญ๏ผˆF5๏ผ‰ๆฌ ไน็—‡๏ผˆใ„ใ‚ใ‚†ใ‚‹็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ๏ผ‰ใ€ใฎ๏ผ”็–พ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever๏ผšFMF๏ผ‰ใฏใ€็‚Ž็—‡็ตŒ่ทฏใฎใฒใจใคใงใ‚ใ‚‹ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ใฎๅƒใใ‚’ๆŠ‘ใˆใ‚‹ใƒ‘ใ‚คใƒชใƒณใฎ็•ฐๅธธใง็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บไฝœๆ€งใฎ็™บ็†ฑใ‚„้šไผด็—‡็Šถใจใ—ใฆๆผฟ่†œ็‚Žใซใ‚ˆใ‚‹ๆฟ€ใ—ใ„็–ผ็—›ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200896NANDO:1200863
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/266-201704-kojin.pdf
rdfs:label - "autoimmune acquired coagulation factor deficiency" + "Familial Mediterranean fever" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡" + "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใค" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docxhttp://nanbyodata.jp/ontology/NANDO_2200431
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4648https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00288
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157155.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4447
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "AiCFD" + "FMF" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018088
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200897 +
http://nanbyodata.jp/ontology/NANDO_1200864 (rdf:type owl:Class @@ -69897,67 +81415,77 @@

hasNotificationNumber288hasNotificationNumber266
dcterms:identifier1200897NANDO:1200864
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/266-201704-kojin.pdf
rdfs:label - "Autoimmune Hemorrhaphilia XIII/13" + "typical familial Mediterranean fever" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡" + "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใคใฆใ‚“ใ‘ใ„ใ‚Œใ„" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2557
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4648https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157155.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4447
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200896http://nanbyodata.jp/ontology/NANDO_1200863
- skos:altLabel - "AH13" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009572
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200898 +
http://nanbyodata.jp/ontology/NANDO_1200865 (rdf:type owl:Class @@ -69965,67 +81493,67 @@

hasNotificationNumber288hasNotificationNumber266
dcterms:identifier1200898NANDO:1200865
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/266-201704-kojin.pdf
rdfs:label - "Acquired hemophilia A" + "Atypical familial Mediterranean fever" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡" + "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใคใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157155.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4648https://www.nanbyou.or.jp/entry/4447
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200896
- skos:altLabel - "ๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A" - @jahttp://nanbyodata.jp/ontology/NANDO_1200863
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + + + + + - + + "MKD" + @en + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200899 +
http://nanbyodata.jp/ontology/NANDO_1200866 (rdf:type owl:Class @@ -70033,86 +81561,127 @@

hasNotificationNumber288hasNotificationNumber267
+ dcterms:description + "้ซ˜IgD็—‡ๅ€™็พค๏ผˆHyper IgD Syndrome๏ผšHIDS๏ผ‰ใฏใ€ๅˆฅๅใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผˆMevalonate Kinase Deficiency๏ผšMKD๏ผ‰ใจใ‚‚่จ€ใ„ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMVK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ก€ๆธ…IgDใŒ้ซ˜ๅ€คใงใ‚ใ‚‹็—‡ไพ‹ใŒๅคšใ„ใ“ใจใงๅ‘ฝๅใŒใชใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200899NANDO:1200866
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/267-201704-kojin.pdf
rdfs:label - "Acquired von Willebrand disease" + "hyper IgD syndrome" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ•ใ‚™ใƒฉใƒณใƒˆใ‚™ๅ› ๅญๆฌ ไน็—‡" + "ใ“ใ†ใ‚ใ„ใ˜ใƒผใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docxhttp://nanbyodata.jp/ontology/NANDO_2200436
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4648http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2832
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6765
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157187.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4750
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200896http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "AVWD" + "Hyperimmunoglobulinemia D and periodic fever syndrome" @en
skos:altLabel - "AVWD" - @ja
skos:altLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" + "Mevalonate Kinase Deffiency" + @en
+ skos:altLabel + "ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020460http://purl.obolibrary.org/obo/MONDO_0009849
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012481
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ•ใ‚™ใƒฉใƒณใƒˆใ‚™ๅ› ๅญๆฌ ไน็—‡" + "้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200900 +
http://nanbyodata.jp/ontology/NANDO_1200867 (rdf:type owl:Class @@ -70120,67 +81689,105 @@

hasNotificationNumber288hasNotificationNumber268
+ dcterms:description + "ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใจ้€ฒ่กŒๆ€งใฎใ‚„ใ›ใƒปๆถˆ่€—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€็‰น็•ฐใช้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใ€‚1939ๅนดใฎไธญๆขใ€1950ๅนดใฎ่ฅฟๆ‘ใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ใ€Œๅ‡็˜กใ‚’ๅˆไฝตใ™ใ‚‹้ชจ้ชจ่†œ็—‡ใ€ใชใฉใฎ็—…ๅใงใ€ๅ’ŒๆญŒๅฑฑใƒปๆณ‰ๅ—ใ‚’ไธญๅฟƒใจใ—ใŸ้–ข่ฅฟใจ้–ขๆฑใƒปๆฑๅŒ—ใ‹ใ‚‰ใ€ใ“ใ‚Œใพใงใซ30ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ใ€€ๅนผๅฐๅ…ๆœŸใซๅ‡็˜กๆง˜็šฎ็–นใซใฆ็™บ็—‡ใ—ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ‚„ๅ‘จๆœŸๆ€ง็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใชใŒใ‚‰ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆ็‰นๆœ‰ใจใ•ใ‚ŒใŸใŒใ€2010ๅนดใซๆœฌ็–พๆ‚ฃใจ่‡จๅบŠ็š„ใซ้…ทไผผใ™ใ‚‹็—‡ไพ‹ใŒJMP็—‡ๅ€™็พคใƒปCANDLE ็—‡ๅ€™็พคใจใ„ใ†็—…ๅใงๆฌง็ฑณใƒปไธญๆฑใ‹ใ‚‰ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚๏ผ“็–พๆ‚ฃใจใ‚‚ใ€ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ่ค‡ๅˆไฝ“ใฎ่ช˜ๅฐŽๅž‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹PSMB8้บไผๅญใซๅค‰็•ฐใฎใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใ‚Œใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅŒไธ€็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200900NANDO:1200867
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/268-201704-kojin.pdf
rdfs:label - "Acquired Factor V Inhibitor" + "Nakajo-Nishimura syndrome" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡" + "ใชใ‹ใ˜ใ‚‡ใ†ใƒปใซใ—ใ‚€ใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docxhttp://nanbyodata.jp/ontology/NANDO_2200435
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4648https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157255.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4582
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200896http://nanbyodata.jp/ontology/NANDO_1100004
skos:altLabel - "AF5D" + "Autoinflammation, lipodystrophy, and dermatosis syndrome" + @en
+ skos:altLabel + "CANDLE syndrome" + @en
+ skos:altLabel + "JMP syndrome" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009726
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡" + "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200901 +
http://nanbyodata.jp/ontology/NANDO_1200868 (rdf:type owl:Class @@ -70188,82 +81795,115 @@

hasNotificationNumber289hasNotificationNumber269
dcterms:description - "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€๏ผˆCronkhite-canada๏ผ‰็—‡ๅ€™็พคใฏใ€ๆถˆๅŒ–็ฎก๏ผˆ็‰นใซ่ƒƒใƒปๅคง่…ธ๏ผ‰ใซๅคšๆ•ฐใฎ้ž่…ซ็˜ๆ€งใƒใƒชใƒผใƒ—ใŒ็™บ็”Ÿใ™ใ‚‹้ž้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็—‡็Šถ๏ผˆ่„ฑๆฏ›ใƒป็ˆช็”ฒ่Ž็ธฎใƒป็šฎ่†š่‰ฒ็ด ๆฒˆ็€๏ผ‰ใ‚’ไผดใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚„่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ‚’้ซ˜็Ž‡ใซไผดใ†ใ€‚ไธญ้ซ˜ๅนดใฎ็”ทๆ€งใซๅคšใ„ใ€‚ไธ–็•Œ็š„ใซๅธŒๅฐ‘ใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅ ฑๅ‘Šใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚" + "PSTPIP1๏ผˆproline-serine-threonine phosphatase interacting protein 1๏ผˆCD2-binding protein 1๏ผšCD2BP1๏ผ‰๏ผ‰ใฎๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใง็™บ็—‡ใ—ใ€้€ฒ่กŒๆ€งใฎใณใ‚‰ใ‚“ๆ€ง้–ข็ฏ€็‚ŽๅŠใณใ€้›ฃๆฒปๆ€งใฎ็šฎ่†š็—‡็Šถ๏ผˆๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ๆง˜็—…ๅค‰ใ€ๅšข่ƒžๆ€งๅบง็˜ก๏ผ‰ใ‚’ไผดใ†ใ€‚" @ja
dcterms:identifier1200901NANDO:1200868
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/289-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/269-201704-kojin.pdf
rdfs:label - "Cronkhite-Canada syndrome" + "Pyogenic Arthritis, Pyoderma Gangrenosum, Acne Syndrome" @en
rdfs:label - "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค" + "ใ‹ใฎใ†ใ›ใ„ใ‚€ใใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ใƒปใˆใใ›ใ„ใฎใ†ใฒใ—ใ‚‡ใ†ใƒปใ‚ใใญใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1255http://nanbyodata.jp/ontology/NANDO_2200437
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01874http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4263
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157182.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00287
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4606https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157159.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4795
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "PAPA syndrome" + @en
+ skos:altLabel + "PAPA็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008283http://purl.obolibrary.org/obo/MONDO_0011462
skos:prefLabel - "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค" + "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200902 +
http://nanbyodata.jp/ontology/NANDO_1200869 (rdf:type owl:Class @@ -70271,79 +81911,94 @@

hasNotificationNumber290hasNotificationNumber270
dcterms:description - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€่‹ฅๅนดๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฏไธญๅฟƒ้™่„ˆๆ „้คŠ้‡ๆณ•ไปฅๅค–ใฎใ‚ใ‚‰ใ‚†ใ‚‹ๆฒป็™‚ๆณ•ใซๆŠตๆŠ—ๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚" + "ๅŽŸๅ› ไธๆ˜Žใชใ€็„ก่Œๆ€งใƒป้ž่…ซ็˜ๆ€งใฎ้ชจใƒป้ชจ้ซ„ใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅค‰ใฏๅ˜็™บๆ€งใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใซ็™บ็—‡ใ—ใ€ๆ€ฅๆ€งใƒปๆ…ขๆ€งใƒปๅ†็™บๆ€งใ„ใšใ‚Œใฎ็ตŒ้Žใ‚‚ใจใ‚Šๅพ—ใ‚‹ใŒใ€ใ“ใฎใ†ใกๅคš็™บๆ€งใซ็™บ็—‡ใ—ๆ…ขๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็—…ๆ…‹ใ‚’ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใจๅ‘ผใถใ€‚็—‡็Šถใจใ—ใฆ้ชจ็—›ๅŠใณใใฎ้ƒจไฝใซไธ€่‡ดใ—ใŸ็šฎ่†šใฎ็†ฑๆ„Ÿใจ็™บ่ตคใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200902NANDO:1200869
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/290-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/270-201704-kojin.pdf
rdfs:label - "Nonspecific Multiple Ulcers of Small Intestine" + "Chronic recurrent multifocal osteomyelitis" @en
rdfs:label - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" + "ใพใ‚“ใ›ใ„ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใ›ใ„ใ“ใคใšใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01853http://nanbyodata.jp/ontology/NANDO_2200438
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157276.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2798
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4708https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01117
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157299.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4465
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1100008
- skos:altLabel - "Chronic nonspecific multiple ulcers of the small intestine" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009813
skos:prefLabel - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" + "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" @ja
- - + - - + + - + - + + "ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ›ใใคใ„ใˆใ‚“" + @ja-Hira - - + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200903 +
http://nanbyodata.jp/ontology/NANDO_1200870 (rdf:type owl:Class @@ -70351,94 +82006,91 @@

hasNotificationNumber291hasNotificationNumber271
dcterms:description - "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10๏ผ…็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + "ไธปใซ่„ŠๆคŽใƒป้ชจ็›ค๏ผˆไป™่…ธ้–ข็ฏ€๏ผ‰ๅŠใณๅ››่‚ขใฎๅคง้–ข็ฏ€ใ‚’ไพตใ™ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใŒ30ๆญณๅ‰ใฎ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€้ ธ๏ฝž่ƒŒ๏ฝž่…ฐๆฎฟ้ƒจใ€่ƒธ้ƒจใ€ใ•ใ‚‰ใซใฏ่‚กใ€่†ใ€่‚ฉ้–ข็ฏ€ใชใฉๅ…จ่บซๅบƒ็ฏ„ๅ›ฒใซ็‚Ž็—‡ๆ€ง็–ผ็—›ใŒๆ‹กใŒใ‚Šใ€ๆฌก็ฌฌใซๅ„้ƒจไฝใฎๆ‹˜็ธฎ๏ผˆ้‹ๅ‹•ๅˆถ้™๏ผ‰ใ‚„ๅผท็›ด๏ผˆ้‹ๅ‹•ๆ€งๆถˆๅคฑ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่บซไฝ“็š„ใฎใฟใชใ‚‰ใšๅฟƒ็†็š„ใƒป็คพไผš็š„ใซใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ๆ‹›ใใ€็‰นใซ่‹ฅๅนด่€…ใงใฏๅฐฑๅญฆใƒปๅฐฑๅŠดใฎๅคงใใช้šœๅฃใจใชใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้ ธๆคŽใ‹ใ‚‰่…ฐๆคŽ๏ผˆ้ชจ็›ค๏ผ‰ใพใงๅ…จ่„ŠๆคŽใŒๅพŒๅผฏ๏ผˆๅ‰ๅฑˆ๏ผ‰ไฝใง้ชจๆ€งใซๅผท็›ดใ—ใฆ้‹ๅ‹•ๆ€งใŒๆถˆๅคฑใ—ใ€ๅ‰ๆ–นใ‚’ๆณจ่ฆ–ใงใใชใ„ใ€ไธŠๆ–นใ‚’่ฆ‹ไธŠใ’ใ‚‰ใ‚Œใชใ„ใ€ๅพŒใ‚ใ‚’ๆŒฏใ‚Šๅ‘ใ‘ใชใ„ใ€ๅ‘จๅ›ฒใ‚’่ฆ‹ๅ›žใ›ใชใ„ใ€้•ทๆ™‚้–“ๅŒใ˜ๅงฟๅ‹ข๏ผˆ็ซ‹ไฝใƒปๅบงไฝใƒป่‡ฅไฝ๏ผ‰ใ‚’็ถญๆŒใ™ใ‚‹ใฎใŒๅ›ฐ้›ฃใซใชใ‚‹ใชใฉใ€ๅคšๅฝฉใ‹ใค็‹ฌ็‰นใฎไฝ“ๅนนๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ•ใ‚‰ใซใฏใ€ใ“ใฎใ‚ˆใ†ใชๆ—ฅๅธธ็”ŸๆดปไธŠใฎไธไพฟใซใจใฉใพใ‚‰ใšใ€่„ŠๆคŽ้ชจๆŠ˜ใ‚„ใ“ใ‚Œใซไผดใ†่„Š้ซ„ๆๅ‚ท๏ผˆ้บป็—บ๏ผ‰ใชใฉๅค–ๅ‚ท็™บ็”Ÿใฎๅฑ้™บๆ€งใ‚‚้ซ˜ใพใ‚‹ใ€‚ใ€€้บไผ็š„่ƒŒๆ™ฏใซใ‚ˆใ‚Šใ€ๆˆ‘ใŒๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏๆฌง็ฑณใซๆฏ”ในๆฅตใ‚ใฆๅฐ‘ใชใใ€ๅŒปๅธซใฎ้–“ใงใ‚‚ๅๅˆ†ใซๅ‘จ็Ÿฅใ•ใ‚Œใฆใ„ใชใ„ใŸใ‚่จบๆ–ญใŒ้…ใ‚ŒใŒใกใจใชใ‚Šใ€ๅˆ็™บใ‹ใ‚‰่จบๆ–ญใพใงใซๅนณๅ‡9.3ๅนดใ‚’่ฆใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200903NANDO:1200870
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/271-201704-kojin.pdf
rdfs:label - "Hirschsprung disease" + "Ankylosing spondylitis" @en
rdfs:label - "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=720 + rdfs:label + "ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00910https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01674
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157171.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4699https://www.nanbyou.or.jp/entry/4847
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1100008
skos:altLabel - "Hirschsprung Disease ๏ผˆEntire Colon type / Extensive type๏ผ‰" + "Spondylarthritis ankylopoietica" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007723
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018309http://purl.obolibrary.org/obo/MONDO_0005306
skos:prefLabel - "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž" @ja
- - + - - + + + + + + - + - + + + + + - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200904 +
http://nanbyodata.jp/ontology/NANDO_1200871 (rdf:type owl:Class @@ -70446,121 +82098,99 @@

hasNotificationNumber291hasNotificationNumber272
+ dcterms:description + "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆFibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๆฏ่ถพๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆœ‰็—…็Ž‡ใฏ200ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200904NANDO:1200871
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/272-201704-kojin.pdf
rdfs:label - "Short-Segment Hirschsprung'sย Disease" + "Fibrodysplasia ossificans progressiva" @en
rdfs:label - "็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ“ใฃใ‹ใ›ใ„ใ›ใ‚“ใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docxhttp://nanbyodata.jp/ontology/NANDO_2201020
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4699
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200903
- skos:prefLabel - "็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" - @ja
- - - - - - - - - - - - - - - - - - + - - + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200905 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber291
- dcterms:identifier1200905
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdf
- rdfs:label - "S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" - @jahttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=596
- rdfs:label - "rectosigmoid Hirschsprung'sย disease" - @en + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00430
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157215.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4699https://www.nanbyou.or.jp/entry/54
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200903http://nanbyodata.jp/ontology/NANDO_1100008
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003964
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007606
skos:prefLabel - "S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200906 +
http://nanbyodata.jp/ontology/NANDO_1200872 (rdf:type owl:Class @@ -70568,60 +82198,86 @@

hasNotificationNumber291hasNotificationNumber273
+ dcterms:description + "ๅฐๅ…ใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅดๅผฏ็—‡ใฏใใฎๅŽŸๅ› ใ‚‚ๆง˜ใ€…ใงใ€ใใฎๆ…‹ๆง˜ใ‚‚ๅ€‹ใ€…ใฎๆ‚ฃ่€…ใ”ใจใงๅคงๅค‰ๅคงใใชๅทฎใŒใ‚ใ‚‹ใ€‚ๆˆ้•ทๆœŸใ€็‰นใซๆ€ๆ˜ฅๆœŸใซๆ‚ชๅŒ–ใ—ใ‚„ใ™ใ„ใŒใ€่„ŠๆŸฑๅค‰ๅฝขใฎๆ‚ชๅŒ–ใŒๅฐ‘ใชใ„ใ‚‚ใฎใฏไบˆๅพŒใ‚‚่‰ฏใQOL๏ผˆ็”Ÿๆดปใฎ่ณช๏ผ‰ใฎ่ฆณ็‚นใ‹ใ‚‰ใ‚‚ๅคงใใชๅ•้กŒใซใฏใชใ‚‰ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅค‰ๅฝขใฎไธญใซใฏใใฎๅค‰ๅฝขๆ‚ชๅŒ–ใŒ่‘—ใ—ใ„็—‡ไพ‹ใŒๅฐ‘ใชใ‹ใ‚‰ใšใ‚ใ‚Šใ€ใใ‚Œใซไผดใ„่ƒธ้ƒญๅค‰ๅฝขใ‚‚้ซ˜ๅบฆใซใชใ‚Šใ€่ƒธ้ƒญๅฎน้‡ใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š่‚บๆˆ้•ทใŒ้˜ปๅฎณใ•ใ‚Œๅ‘ผๅธๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๆ‚ฃ่€…ใซใ‚ˆใฃใฆใฏๆˆ้•ทใซไผดใ„ใ•ใ‚‰ใซๆ‚ชๅŒ–ใ—ใฆใ€ๆœ€็ต‚็š„ใซใฏๆ‹˜ๆŸๆ€งๆ›ๆฐ—้šœๅฎณใ€้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณใชใฉใฎ็—…ๆ…‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใฎ็Šถๆ…‹ใจใชใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซ่„ŠๆŸฑๅค‰ๅฝขใชใฉ็จฎใ€…ใฎๅŽŸๅ› ใงๅฐๅ…ๆˆ้•ทๆœŸใซ้ซ˜ๅบฆ่ƒธ้ƒญๅค‰ๅฝขใŒ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใงใฏใ€็ตๆžœใจใ—ใฆๆญฃๅธธใช่‚บใฎๆˆ้•ทใ‚„ใใฎๅ‘ผๅธๆฉŸ่ƒฝใ‚’ใ‚ตใƒใƒผใƒˆใงใใชใ„็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใใฎๆฒป็™‚ใจใ—ใฆVEPTR๏ผˆVertical Expandable Prosthetic Titanium Rib๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ไบบๅทฅ่‚‹้ชจใŒ้–‹็™บใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎไธญใงใ€็‰นใซไธ€ๆฌกๆ€งใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆคŽ้ชจใจ่‚‹้ชจใฎไธกๆ–นใฎ็™บ็”Ÿๅญฆ็š„็•ฐๅธธใซใ‚ˆใ‚Šๅฝขๆ…‹็š„ๅค‰ๅŒ–ใ‚’ๆฅใ—่„ŠๆŸฑๅค‰ๅฝขใฎใฟใชใ‚‰ใš่ƒธ้ƒญๅค‰ๅฝขใจใใ‚Œใ‚‰ใฎๆˆ้•ท้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆœ€็ต‚็š„ใซใฏๅ‘ผๅธๅ™จ็ณปใฎ้šœๅฎณใ‹ใ‚‰็”Ÿๅ‘ฝใซใ‚‚้‡ๅคงใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎ่‡ช็„ถ็ตŒ้Žใ‚„็—…ๆ…‹ใซใฏๆœชใ ๆœช่งฃๆ˜Žใชใ‚‚ใฎใŒๅคšใ€…ใ‚ใ‚‹ใŒใ€VEPTRใ‚’ไปฃ่กจใจใ—ใŸๆˆ้•ทๆธฉๅญ˜ๆ‰‹่ก“ๆฒป็™‚ใฏใ€ๆœฌ็–พๆ‚ฃใซ็ฝนๆ‚ฃใ—ใŸๅฐๅ…ๆ‚ฃ่€…ใฎๆˆ้•ทๅพŒใฎ็”Ÿๆดปใ‚’ๆ”นๅ–„ใ•ใ›ใ‚‹ใฎใฟใชใ‚‰ใšใ€็”Ÿๅ‘ฝไบˆๅพŒใ‚‚ๆ”นๅ–„ใ•ใ›ใ‚‹ใ“ใจใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200906NANDO:1200872
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/273-201704-kojin.pdf
rdfs:label - "Long-segment Hirschsprung'sย disease" + "Congenital Scoliosis with Rib Anomalies" @en
rdfs:label - "ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ใ‚ใฃใ“ใคใ„ใ˜ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ›ใ‚“ใฆใ„ใ›ใ„ใใใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01851
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4699https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157323.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4645
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200903http://nanbyodata.jp/ontology/NANDO_1100008
+ skos:altLabel + "Congenital scoliosis with rib anomaly" + @en
skos:prefLabel - "ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200907 +
http://nanbyodata.jp/ontology/NANDO_1200873 (rdf:type owl:Class @@ -70629,60 +82285,89 @@

hasNotificationNumber291hasNotificationNumber274
+ dcterms:description + "้ชจๅฝขๆˆไธๅ…จ็—‡๏ผˆOsteogenesis imperfecta๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจ่„†ๅผฑๆ€งใซใ‚ˆใ‚‹ๆ˜“้ชจๆŠ˜ๆ€งใ‚„้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใซๅŠ ใˆใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ็ด„๏ผ’๏ฝž๏ผ“ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2010ๅนด็‰ˆใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃๅ›ฝ้š›ๅˆ†้กžใงใฏใ€Sillenceใซใ‚ˆใ‚‹๏ผ‘ๅž‹๏ผˆ้žๅค‰ๅฝขๅž‹๏ผ‰ใ€๏ผ’ๅž‹๏ผˆๅ‘จ็”ฃๆœŸ่‡ดๆญปๅž‹๏ผ‰ใ€๏ผ“ๅž‹๏ผˆๅค‰ๅฝข้€ฒ่กŒๅž‹๏ผ‰ใ€๏ผ”ๅž‹๏ผˆไธญ็ญ‰็—‡ๅž‹๏ผ‰ใซๅŠ ใˆใฆใ€้ชจ้–“่†œ็Ÿณ็ฐๅŒ–ใƒป้Žๅฝขๆˆไปฎ้ชจใ‚’ไผดใ†ๅž‹๏ผˆ๏ผ•ๅž‹๏ผ‰ใ€ใใฎไป–ใฎๅž‹ใ€ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier1200907NANDO:1200873
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/274-201704-kojin.pdf
rdfs:label - "Entire colon Hirschsprung disease" + "Osteogenesis Imperfecta" @en
rdfs:label - "ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ใ“ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docxhttp://nanbyodata.jp/ontology/NANDO_2201011
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4699https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00506
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157195.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4567
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200903http://nanbyodata.jp/ontology/NANDO_1100008
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019019
skos:prefLabel - "ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "้ชจๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200908 +
http://nanbyodata.jp/ontology/NANDO_1200874 (rdf:type owl:Class @@ -70690,60 +82375,91 @@

hasNotificationNumber291hasNotificationNumber275
+ dcterms:description + "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ ๏ผˆthanatophoric dysplasia๏ผ‰ใฏ1967ๅนดใซMaroteauxใ‚‰ใŒ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ—ใŸใ€‚โ€thanatophoricโ€ใจใฏdeath bearingใ€€๏ผˆ่‡ดๆญปๆ€ง๏ผ‰ใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚ฎใƒชใ‚ทใƒฃ่ชžใงใ‚ใ‚‹ใ€‚ไธปใช็‰นๅพดใฏ้•ท็ฎก้ชจ๏ผˆ็‰นใซไธŠ่…•้ชจใจๅคง่…ฟ้ชจ๏ผ‰ใฎ่‘—ๆ˜Žใช็Ÿญ็ธฎใงใ‚ใ‚‹ใ€‚็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญๅ—ๅฎนไฝ“๏ผ“้บไผๅญใฎ็‚น็ช็„ถๅค‰็•ฐใŒๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ใใฎX็ทšๆ‰€่ฆ‹ใ‹ใ‚‰ๅคง่…ฟ้ชจใŒๅฝŽๆ›ฒ๏ผˆๅ—่ฉฑๅ™จ็”จๅค‰ๅฝข๏ผ‰ใ—ใ€้ ญ่“‹้ชจใฎๅค‰ๅฝขใฎใชใ„๏ผ‘ๅž‹ใจใ€ๅคง่…ฟ้ชจใฎๅฝŽๆ›ฒใฏๅฐ‘ใชใใ€้ ญ่“‹้ชจใŒใ‚ฏใƒญใƒผใƒใƒผ่‘‰ๆง˜ใซๅค‰ๅฝขใ—ใŸ๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚ŒใซใŠใ„ใฆใ‚‚่‚‹้ชจใฎ็Ÿญ็ธฎใซใ‚ˆใ‚‹่ƒธ้ƒญไฝŽๅฝขๆˆใงใ€ใƒ™ใƒซ็Šถ่ƒธ้ƒญใจใชใ‚Šใ€้‡ๅบฆใฎๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ใพใŸๅทจๅคง้ ญ่“‹ใจๅ‰้ ญ้ƒจ็ชๅ‡บใ‚’็คบใ—ใ€้ก”้ขใฏๆฏ”่ผƒ็š„ไฝŽๅฝขๆˆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200908NANDO:1200874
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/275-201704-kojin.pdf
rdfs:label - "Extensive aganglionosis Hirschsprung disease" + "Thanatophoric dysplasia" @en
rdfs:label - "ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01750
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4699https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157241.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4714
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200903http://nanbyodata.jp/ontology/NANDO_1100008
+ skos:altLabel + "TD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017042
skos:prefLabel - "ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200909 +
http://nanbyodata.jp/ontology/NANDO_1200875 (rdf:type owl:Class @@ -70751,82 +82467,84 @@

hasNotificationNumber292
- dcterms:description - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏไฝŽๅฝขๆˆใง็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่…Ÿๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ€€็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ15๏ฝž20ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๆ€งๅˆฅใงใฏใ€่‹ฅๅนฒๅฅณๅ…ใซๅคšใ„ใ€‚ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€229ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„20ไธ‡ใฎๅ‡บ็”Ÿใซ1ไบบใงใ‚ใฃใŸใ€‚" - @jahasNotificationNumber275
dcterms:identifier1200909NANDO:1200875
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/292-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/275-201704-kojin.pdf
rdfs:label - "Cloacal exstrophy" + "Thanatophoric dysplasia type 1" @en
rdfs:label - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2761 + rdfs:label + "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01856http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1517
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157237.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157241.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4591https://www.nanbyou.or.jp/entry/4714
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200874
+ skos:altLabel + "TD1" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009774http://purl.obolibrary.org/obo/MONDO_0008546
skos:prefLabel - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" + "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200910 +
http://nanbyodata.jp/ontology/NANDO_1200876 (rdf:type owl:Class @@ -70834,72 +82552,84 @@

hasNotificationNumber293
- dcterms:description - "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่…Ÿใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ๏ผ•๏ฝž๏ผ™้€ฑใซใ‹ใ‘ใฆ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่…Ÿใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่…Ÿๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ๏ผ–๏ฝž10ไธ‡ใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ466ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„10ไธ‡ใฎๅ‡บ็”Ÿใซ๏ผ‘ไบบใงใ‚ใฃใŸใ€‚" - @jahasNotificationNumber275
dcterms:identifier1200910NANDO:1200876
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/293-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/275-201704-kojin.pdf
rdfs:label - "Persistent cloaca" + "Thanatophoric dysplasia type 2" @en
rdfs:label - "็ทๆŽ’ๆณ„่…”้บๆฎ‹" + "ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01858http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1518
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157236.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157241.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4588https://www.nanbyou.or.jp/entry/4714
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200874
+ skos:altLabel + "TD2" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008547
skos:prefLabel - "็ทๆŽ’ๆณ„่…”้บๆฎ‹" + "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200911 +
http://nanbyodata.jp/ontology/NANDO_1200877 (rdf:type owl:Class @@ -70907,77 +82637,94 @@

hasNotificationNumber294hasNotificationNumber276
dcterms:description - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚่ƒธ่…”ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚" + "่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ท็—‡ใ‚’ๅ‘ˆใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใฎไปฃ่กจใงใ€ใŠใ‚ˆใ๏ผ’ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใง็™บ็”Ÿใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจX็ทšๅƒใ‹ใ‚‰่จบๆ–ญใฏๅฎนๆ˜“ใงใ‚ใ‚‹ใŒๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆˆไบบ่บซ้•ทใฏ็”ทๆ€งใง็ด„130cmใ€ๅฅณๆ€งใง็ด„125cmใจไฝŽใ่‘—ๆ˜Žใชๅ››่‚ข็Ÿญ็ธฎใฎใŸใ‚ใ€ๆ‚ฃ่€…ใฏๆ—ฅๅธธ็”Ÿๆดปใงๆง˜ใ€…ใชๅˆถ็ด„ใ‚’ใ†ใ‘ใ‚‹ใ€‚่„ŠๆŸฑ็ฎก็‹ญ็ช„ใฎใŸใ‚ไธญ้ซ˜ๅนดใซใชใ‚‹ใจไธกไธ‹่‚ข้บป็—บใ‚’ๅ‘ˆใ—ใŸใ‚Šใ€ไธ‹่‚ขใ‚ขใƒฉใ‚คใƒกใƒณใƒˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’็™บ็—‡ใ—ๆญฉ่กŒ้šœๅฎณใ‚’็”Ÿใ˜ใŸใ‚Šใ™ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚" @ja
dcterms:identifier1200911NANDO:1200877
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/294-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/276-201704-kojin.pdf
rdfs:label - "Congenital diaphragmatic hernia" + "Achondroplasia" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + "ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01241http://nanbyodata.jp/ontology/NANDO_2201009
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157224.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4510https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01749
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157257.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4570
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1100008
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005711http://purl.obolibrary.org/obo/MONDO_0007037
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200912 +
http://nanbyodata.jp/ontology/NANDO_1200878 (rdf:type owl:Class @@ -70985,74 +82732,91 @@

hasNotificationNumber295hasNotificationNumber277
dcterms:description - "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใ‚’ๅŒ…ๅซใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใฏ็„ก็—‡ๅ€™ๆ€งใ ใŒใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€่‡ดๆญป็š„็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็‹ฌ็ซ‹ใ—ใŸ่‡จๅบŠ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚ŒใŸใ€‚ๅนณๆˆ22ๅนดๅบฆใ‹ใ‚‰ใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ่ชฟๆŸปใงใฏใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ–ฐ่ฆ็™บ็—‡ไพ‹ๆ•ฐใฏๅนด้–“๏ผ•๏ฝž10ไพ‹็จ‹ๅบฆใจๆŽจๅฎšใ•ใ‚Œใ€ๆ˜Žใ‚‰ใ‹ใช็”ทๅฅณๅทฎใฏใชใ„ใ€‚ๅคšใใฏไนณๅ…ๆœŸๆ—ฉๆœŸใพใงใซ่จบๆ–ญใ•ใ‚Œใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญไพ‹ใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ็—‡ไพ‹ใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใฏ้‡็—‡ใง้ซ˜ใƒชใ‚นใ‚ฏใจใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸไปฅ้™ใซใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใฎ่‚ๅ†…้–€่„ˆ่‚้™่„ˆใ‚ทใƒฃใƒณใƒˆใฎๆต้‡ๅข—ๅคงใ‹ใ‚‰ใ€่‚็กฌๅค‰็—‡ใ€่‚ๆฉŸ่ƒฝไฝŽไธ‹ใŒ้€ฒ่กŒใ—ใ€่‚ไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใฎใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€่‡ดๆญป็š„ใชๆ€ฅๆ€งๆœŸ็—‡็Šถใจๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใฎๅŒๆ–นใŒๅ•้กŒใจใชใฃใฆใ„ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใซๅฏพใ—ใฆใฏ่‚็งปๆคไปฅๅค–ใซๆ นๆฒป็š„ใชๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚" + "ไธญๆžข็ฅž็ตŒ็ณปใ‚’้™คใใ€้ชจใ‚„่ƒธ้ƒจ๏ผˆ่‚บใ€็ธฆ้š”ใ€ๅฟƒ่‡“๏ผ‰ใ€่…น้ƒจ๏ผˆ่…น่…”ๅ†…ใ€่„พ่‡“๏ผ‰ใ€็šฎ่†šใ€็šฎไธ‹็ต„็น”ใชใฉๅ…จ่บซ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซ็•ฐๅธธใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎก็ต„็น”ใŒๆตธๆฝคใ™ใ‚‹ๅŽŸๅ› ไธๆ˜ŽใฎๅธŒๅฐ‘ๆ€ง้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใ€่‹ฅๅนด่€…ใซๅคšใ็™บ็—‡ใ™ใ‚‹ใŒๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใ‚„ไบˆๅพŒใฏๆง˜ใ€…ใงใ‚ใ‚‹ใŒใ€่ƒธ้ƒจใซ็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚้ชจๆบถ่งฃใ‚’่ตทใ“ใ™ใ‚ดใƒผใƒใƒ ็—…ใ‚‚ใ€้ชจ็—…ๅค‰ใ ใ‘ใงใชใๅŒๆง˜ใฎๅ†…่‡“็—…ๅค‰ใ‚’ๆŒใคๅ ดๅˆใŒใ‚ใ‚‹ใŸใ‚ใ€้กž็ธ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๆ™‚็‚นใงใฏ๏ผ‘ใคใฎ็–พๆ‚ฃใจใ—ใฆใจใ‚‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏไธ่ฆๅ‰‡ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใŒใ€ๅ†…็šฎ็ดฐ่ƒžใฎMIB-1ใฏ้™ฐๆ€งใง่…ซ็˜ๆ€งใฎๅข—ๆฎ–ใฏ็„กใ„ใ€‚ใพใŸ้‘‘ๅˆฅไธŠๅ•้กŒใจใชใ‚‹ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใใ€ไธ€ๆ–นใงใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏๅคš็™บๆ€งใƒปใณใพใ‚“ๆ€ง๏ผˆๅคš่‡“ๅ™จใซๅŠใถใ€ใƒชใƒณใƒ‘ๆถฒ่ฒฏ็•™ใ‚„ๅ‘จๅ›ฒใฎ็ต„็น”ใซๆตธๆฝคๅ‚พๅ‘ใŒใ‚ใ‚‹ใชใฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใชใŠใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผใ‚ดใƒผใƒใƒ ็—…ใฏใ€ใณใพใ‚“ๆ€งใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใ€ใ‚ดใƒผใƒใƒ ใƒปใ‚นใ‚ฟใ‚ฆใƒˆ็—‡ๅ€™็พคใ€ๅคง้‡้ชจๆบถ่งฃ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200912NANDO:1200878
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/295-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/277-201704-kojin.pdf
rdfs:label - "Infantile Giant Hepatic Haemangiomas" + "Lymphangiomatosis / Gorham-Stout Disease" @en
rdfs:label - "ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ" + "ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†๏ผใ”ใƒผใฏใ‚€ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157260.dochttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157316.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4639https://www.nanbyou.or.jp/entry/4636
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1100010
skos:altLabel - "Infant huge hepatic hemangioma" + "Lymphangiomatosis/Gorham disease" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003157
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007414
skos:prefLabel - "ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ" + "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—…" @ja
- - + - - - - - - - - - - - - - + - - - - - - - - - - - - - - - - + "obsolete ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200913 +
http://nanbyodata.jp/ontology/NANDO_1200879 (rdf:type owl:Class @@ -71060,87 +82824,57 @@

hasNotificationNumber296
- dcterms:description - "่ƒ†้“้–‰้Ž–็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‚Ž็—‡ๆ€งใซ่‚ๅค–่ƒ†็ฎก็ต„็น”ใฎ็ ดๅฃŠใŒ่ตทใ“ใ‚Šใ€ๆง˜ใ€…ใชใƒฌใƒ™ใƒซใงใฎ่‚ๅค–่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จไฝ“ใฎ็ด„85๏ผ…ใŒ่‚้–€้ƒจใซใŠใ„ใฆ่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸๅคšใใฎ็—‡ไพ‹ใง็‚Ž็—‡ๆ€งใฎ่ƒ†็ฎก้šœๅฎณใฏ่‚ๅค–่ƒ†็ฎกใฎใฟใชใ‚‰ใš่‚ๅ†…ใฎๅฐ่‘‰้–“่ƒ†็ฎกใพใงใŠใ‚ˆใ‚“ใงใ„ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ10,000ใ‹ใ‚‰15,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1989ๅนดใ‹ใ‚‰่กŒใ‚ใ‚Œใฆใ„ใ‚‹ๆ—ฅๆœฌ่ƒ†้“้–‰้Ž–็—‡็ ”็ฉถไผšใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็™ป้Œฒใซใฏ2010ๅนดใพใงใซ2516ไพ‹ใฎ็™ป้ŒฒใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" - @ja
dcterms:identifier1200913
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdfNANDO:1200879
rdfs:label - "Biliary atresia" + "obsolete Lymphangiomatosis" @en
rdfs:label - "่ƒ†้“้–‰้Ž–็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1839
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01855
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4735
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013 + rdfs:label + "obsolete ใƒชใƒณใƒ‘็ฎก่…ซ็—‡" + @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008867 + rdfs:subClassofhttp://nanbyodata.jp/ontology/NANDO_0000002
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0028737 + owl:deprecated + "true" + + xsd:boolean +
skos:prefLabel - "่ƒ†้“้–‰้Ž–็—‡" + "obsolete ใƒชใƒณใƒ‘็ฎก่…ซ็—‡" @ja
- - + - - - - - - - - - + + "obsolete ใ”ใƒผใฏใ‚€ใณใ‚‡ใ†" + @ja-Hira - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200914 +
http://nanbyodata.jp/ontology/NANDO_1200880 (rdf:type owl:Class @@ -71148,60 +82882,57 @@

hasNotificationNumber296
dcterms:identifier1200914
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdfNANDO:1200880
rdfs:label - "type II biliaryย atresia" + "obsolete Gorham disease" @en
rdfs:label - "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docx + rdfs:label + "obsolete ใ‚ดใƒผใƒใƒ ็—…" + @ja
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4735 + rdfs:subClassofhttp://nanbyodata.jp/ontology/NANDO_0000002
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200913 + owl:deprecated + "true" + + xsd:boolean +
skos:prefLabel - "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡" + "obsolete ใ‚ดใƒผใƒใƒ ็—…" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200915 +
http://nanbyodata.jp/ontology/NANDO_1200881 (rdf:type owl:Class @@ -71209,60 +82940,93 @@

hasNotificationNumber296hasNotificationNumber278
+ dcterms:description + "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ใฏ้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจใซๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎใƒชใƒณใƒ‘็ฎกๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€ใ‚ดใƒผใƒใƒ ็—…๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผ‰ใจใฏ็•ฐใชใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธญๅฟƒใซๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜คๆ€ง็—…ๅค‰ใงใ€ๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใ„ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญใƒปๆฒป็™‚ใซๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็‰นใซ็—…ๅค‰ใŒๅคงใใๅบƒ็ฏ„ๅ›ฒใซๅบƒใŒใ‚‹ใ‚‚ใฎใฏ้›ฃๆฒปๆ€งใงใ€ๆฉŸ่ƒฝ้ขใฎใฟใชใ‚‰ใšๆ•ดๅฎน้ขใ‹ใ‚‰ใ‚‚ๆ‚ฃ่€…ใฎQOLใฏ่‘—ใ—ใๅˆถ้™ใ•ใ‚Œใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใ€่…น่…”ใƒปๅพŒ่…น่†œๅ†…ใ€ๅ››่‚ขใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคง็—…ๅค‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ็ฅž็ตŒใ‚„ไป–ใฎไธป่ฆใช่„ˆ็ฎกใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ใŒๅ›ฐ้›ฃใจใชใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไป–้ƒจไฝใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚็—…ๅค‰ๅ†…ใฎใƒชใƒณใƒ‘ๅšข่ƒžใฎๅคงใใ•ใ‚„็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Šไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅฎŒๆฒปใฏใปใผไธๅฏ่ƒฝใงใ€ๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200915NANDO:1200881
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/278-201704-kojin.pdf
rdfs:label - "type I cystic biliary atresia" + "Giant lymphatic malformation (cervicofacial lesion)" @en
rdfs:label - "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡" + "ใใ‚‡ใ ใ„ใ‚Šใ‚“ใฑใ‹ใ‚“ใใ‘ใ„๏ผˆใ‘ใ„ใถใŒใ‚“ใ‚ใ‚“ใณใ‚‡ใ†ใธใ‚“๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157174.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4735https://www.nanbyou.or.jp/entry/4892
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200913http://nanbyodata.jp/ontology/NANDO_1100010
+ skos:altLabel + "Huge Lymphatic malformation" + @en
+ skos:altLabel + "Huge Lymphatic malformation with cervicofacial lesion" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016233
skos:prefLabel - "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡" + "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200916 +
http://nanbyodata.jp/ontology/NANDO_1200882 (rdf:type owl:Class @@ -71270,60 +83034,88 @@

hasNotificationNumber296hasNotificationNumber279
+ dcterms:description + "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎๅ…จ้ ˜ๅŸŸใซใณใพใ‚“ๆ€ง้€ฃ็ถšๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใซ็ตฑไธ€ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€งๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ไธๅฏ่ƒฝใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200916NANDO:1200882
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/279-201704-kojin.pdf
rdfs:label - "type II biliaryย atresia" + "Giant venous malformation (cervical, oral and oropharyngeal diffuse lesion)" @en
rdfs:label - "โ…กๅž‹่ƒ†้“้–‰้Ž–็—‡" + "ใใ‚‡ใ ใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ‘ใ„ใถใ“ใ†ใใ†ใ„ใ‚“ใจใ†ใณใพใ‚“ใ›ใ„ใณใ‚‡ใ†ใธใ‚“๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157172.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4735https://www.nanbyou.or.jp/entry/4756
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200913http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "Huge venous malformation" + @en
+ skos:altLabel + "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion" + @en
skos:prefLabel - "โ…กๅž‹่ƒ†้“้–‰้Ž–็—‡" + "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200917 +
http://nanbyodata.jp/ontology/NANDO_1200883 (rdf:type owl:Class @@ -71331,60 +83123,81 @@

hasNotificationNumber296hasNotificationNumber280
+ dcterms:description + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจๅˆใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขใฎๅบƒ็ฏ„ๅ›ฒใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎๅ‹•้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆAVM๏ผ‰ใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก๏ผˆใ‚ทใƒฃใƒณใƒˆ๏ผ‰ใ‚’ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†้ซ˜ๆต้€Ÿ่ก€็ฎกๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆไธ€่‚ขใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€้‡ๅบฆใฎๆŒ็ถš็š„็–ผ็—›ใ€ๆ‚ฃ่‚ขใฎ่™š่ก€ๅฃŠๆญปใ€ๅ››่‚ขๆฉŸ่ƒฝไธๅ…จใชใฉใ‚’ๆฅใ™ใ€‚ใ•ใ‚‰ใซไธก่€…ใจใ‚‚ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใงใฏ็—…ๅค‰ใฎๅ†็™บ้€ฒ่กŒใŒๆ—ฉใใ€ๆฒป็™‚ๅŠนๆžœใฏไธ€ๆ™‚็š„ใจใชใ‚Šใ€ใ‚€ใ—ใ‚ๆ‚ชๅŒ–ใซใ„ใŸใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎๅฐ็—…ๅค‰ใงใฏๆ‚ฃ่‚ขๅˆ‡ๆ–ญใซใ‚ˆใ‚Š็—…ๅค‰้™คๅŽปใŒๅฏ่ƒฝใจใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏ่‚ก้–ข็ฏ€ใ‚„่‚ฉ้–ข็ฏ€ไป˜่ฟ‘ใพใง็—…ๅค‰ใŒๅŠใถใŸใ‚ๆ‚ฃ่‚ขๅˆ‡ๆ–ญ่ก“่‡ชไฝ“ใซ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใฎๅฑ้™บๆ€งใŒใ‚ใ‚Šใ€ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๅˆ‡ๆ–ญไธ่ƒฝใงใ‚ใ‚‹ใ“ใจใฏ่‡ชๆ˜Žใงใ‚ใ‚Šใ€ๅบƒ็ฏ„ๅ›ฒๅˆ‡้™คใฏ่‡ดๆญป็š„ๅ‡บ่ก€ใ‚„้ก”้ขใƒป้ผป่…”ใƒปๅฃ่…”ใƒป้ š้ƒจใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ใ€ใ“ใ‚Œใ‚‚ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ใชใŠ่„ณ๏ฝฅ่„Š้ซ„ใจใ„ใฃใŸไธญๆžข็ฅž็ตŒ็ณปใŒไธปไฝ“ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใใ‚Œไปฅๅค–ใฎ้ƒจไฝใจใฏ่จบๆ–ญ๏ฝฅ็ตŒ้Žใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใฃใฆใŠใ‚Šใ€ๆŒ‡ๅฎš้›ฃ็—…ใจใ—ใฆใฏ้ š้ƒจ้ก”้ขใƒปๅ››่‚ขใฎๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200917NANDO:1200883
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/280-201704-kojin.pdf
rdfs:label - "type III biliaryย atresia" + "Huge arteriovenous malformation with cervicofacial or limb lesion" @en
rdfs:label - "โ…ขๅž‹่ƒ†้“้–‰้Ž–็—‡" + "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ‘ใ„ใถใŒใ‚“ใ‚ใ‚“ใพใŸใฏใ—ใ—ใณใ‚‡ใ†ใธใ‚“๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157173.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4735https://www.nanbyou.or.jp/entry/4630
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200913http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "gigantic arteriovenous malformation (cervicofacial/limb lesion)" + @en
skos:prefLabel - "โ…ขๅž‹่ƒ†้“้–‰้Ž–็—‡" + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200918 +
http://nanbyodata.jp/ontology/NANDO_1200884 (rdf:type owl:Class @@ -71392,77 +83205,94 @@

hasNotificationNumber297hasNotificationNumber281
dcterms:description - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€ใ€Œ่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ๏ผ“็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€ใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๆ‚ฃ่€…ๆ•ฐใฏ200๏ฝž300ไบบ็จ‹ๅบฆใจๆŽจๆธฌใ•ใ‚ŒใŸใ€‚" + "ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€่ปŸ้ƒจใƒปไฝ“่กจใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ˜็ด”ๅž‹ใฎไธญใซใฏ้™่„ˆๅฅ‡ๅฝขใ€ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ็˜ป๏ผ‰ใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใŒๅซใพใ‚Œใ€ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆๆททๅˆๅž‹่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใฏใ“ใ‚Œใ‚‰ใฎ็ต„ใฟๅˆใ‚ใ›ใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่‡ช็„ถ้€€็ธฎใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒใ—ใ€็–ผ็—›ใ‚„ๆฝฐ็˜ใ€ๆ‚ฃ่‚ขใฎๆˆ้•ท็•ฐๅธธใ€ๆฉŸ่ƒฝ้šœๅฎณใ€ๆ•ดๅฎนไธŠใฎๅ•้กŒ็ญ‰ใซใ‚ˆใ‚Š้•ทๆœŸใซใ‚ใŸใ‚Šๆ‚ฃ่€…ใฎQOLใ‚’ๆใชใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซใฏใ€ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹็—…ๅค‰ใ‚„ใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹็—…ๅค‰ใชใฉๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅ‰่€…ใจๅพŒ่€…ใงใฏ็—…ๆ…‹ใ‚„ๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚‹ใ€‚ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€ๅคๅ…ธ็š„ใซใฏใ€ๅ››่‚ขใฎ็‰‡ๅด่‚ฅๅคงใ€็šฎ่†šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ไบŒๆฌกๆ€ง้™่„ˆ็˜คใ€ใ‚’ไธ‰ๅพดใจใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใฏไฝŽๆต้€Ÿๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆ้™่„ˆๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใ€้ซ˜ๆต้€Ÿ็—…ๅค‰๏ผˆๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจๅˆ†ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใจใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใ‚’ๅŽณๅฏ†ใซๅŒบๅˆ†ใ™ใ‚‹ใ“ใจใฏ็‰นใซๅฐๅ…ไพ‹ใงใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆœฌๅฏพ่ฑก็–พ็—…ใจใ—ใฆใฏใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚ๅˆๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใ‚„ๅทจๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใชใฉใฎๆŒ‡่ถพๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่„š้•ทๅทฎใŒ้ซ˜ๅบฆใซใชใ‚‹ใจ่ท›่กŒใ‚„ไปฃๅ„Ÿๆ€ง่„ŠๆคŽๅดๅฝŽ็—‡ใ‚’ๆฅใ™ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฏใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚Šใ€ๅ‡ๅ›บ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“๏ผˆ้ชจ็ซฏ็ทšๆˆ้•ทๆŠ‘ๅˆถ่ก“ใ€้ชจๅปถ้•ท่ก“๏ผ‰ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใƒปๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200918NANDO:1200884
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/297-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/281-201704-kojin.pdf
rdfs:label - "Alagille syndrome" + "Klippel-Trenaunay-Weber syndrome" @en
rdfs:label - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" + "ใใ‚Šใฃใบใ‚‹ใƒปใจใ‚Œใฎใญใƒผใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00551http://nanbyodata.jp/ontology/NANDO_2201030
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157117.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=855
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4844https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01788
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198084.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4600
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100005
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007318http://purl.obolibrary.org/obo/MONDO_0007864
skos:prefLabel - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" + "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + + + + + - + - + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200919 +
http://nanbyodata.jp/ontology/NANDO_1200885 (rdf:type owl:Class @@ -71470,46 +83300,103 @@

hasNotificationNumber297hasNotificationNumber282
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€๏ผˆCongenital dyserythropoietic anemia๏ผšCDA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ๅŠใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200919NANDO:1200885
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/297-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdf
rdfs:label - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹" + "Congenital dyserythropoietic anemia" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157117.docxhttp://nanbyodata.jp/ontology/NANDO_2200615
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4844https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00917
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4364
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200918http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "CDA" + @en
+ skos:altLabel + "Congenital dyserythropoietic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019403
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200920 +
http://nanbyodata.jp/ontology/NANDO_1200886 (rdf:type owl:Class @@ -71517,60 +83404,79 @@

hasNotificationNumber297hasNotificationNumber282
dcterms:identifier1200920NANDO:1200886
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/297-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdf
rdfs:label - "Atypical Alagille Syndrome" + "Congenital dyserythropoietic anemia type I" @en
rdfs:label - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท1" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157117.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4844https://www.nanbyou.or.jp/entry/4364
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200918http://nanbyodata.jp/ontology/NANDO_1200885
+ skos:altLabel + "Congenital dyserythropoietic anaemia type I" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020337
skos:prefLabel - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹" + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I" @ja
- - + - - - - - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท2" + @ja-Hira - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200921 +
http://nanbyodata.jp/ontology/NANDO_1200887 (rdf:type owl:Class @@ -71578,82 +83484,84 @@

hasNotificationNumber298
- dcterms:description - "้บไผๆ€ง่†ต็‚Žใจใฏใ€้บไผใซใ‚ˆใ‚Šๆ…ขๆ€ง่†ต็‚ŽใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚้บไผๆ€ง่†ต็‚Žใฎๅฎš็พฉใจใ—ใฆGrossใฏใ€โ‘ ่ก€็ธ่€…ใซ๏ผ“ไบบไปฅไธŠใฎ่†ต็‚Ž็—‡ไพ‹ใ‚’่ชใ‚ใ€โ‘ก่‹ฅๅนด็™บ็—‡ใ€โ‘ขๅคง้‡้ฃฒ้…’ใชใฉๆ…ขๆ€ง่†ต็‚Žใฎๆˆๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒ่ชใ‚ใ‚‰ใ‚Œใšใ€โ‘ฃ๏ผ’ไธ–ไปฃไปฅไธŠใงๆ‚ฃ่€…ใŒ็™บ็”Ÿใ—ใฆใ„ใ‚‹ใ“ใจใ‚’ๆŒ™ใ’ใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๅฐ‘ๅญๅŒ–ใซไผดใ„ๆ˜Ž็ขบใชๅฎถๆ—ๆญดใ‚’ๅพ—ใ‚‹ใ“ใจใŒๅ›ฐ้›ฃใชใŸใ‚ใ€ๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง่†ต็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใฎ็ญ–ๅฎšใ—ใŸ่‡จๅบŠ่จบๆ–ญๅŸบๆบ–ใซๅŸบใฅใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber282
dcterms:identifier1200921NANDO:1200887
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/298-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdf
rdfs:label - "Hereditary pancreatitis" + "Congenital dyserythropoietic anemia type II" @en
rdfs:label - "้บไผๆ€ง่†ต็‚Ž" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1171 + rdfs:label + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00933http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2118
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157134.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4780https://www.nanbyou.or.jp/entry/4363
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200885
+ skos:altLabel + "Congenital dyserythropoietic anaemia type II" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008185http://purl.obolibrary.org/obo/MONDO_0009134
skos:prefLabel - "้บไผๆ€ง่†ต็‚Ž" + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II" @ja
- - + - - - - - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท3" + @ja-Hira - - + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200922 +
http://nanbyodata.jp/ontology/NANDO_1200888 (rdf:type owl:Class @@ -71661,82 +83569,84 @@

hasNotificationNumber299
- dcterms:description - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡๏ผˆ่†ตๅ›Š่ƒž็ทš็ถญ็—‡cystic fibrosis๏ผšCFใ€ใ‚ทใ‚นใƒ†ใ‚ฃใƒƒใ‚ฏใƒปใƒ•ใ‚กใ‚คใƒ–ใƒญใƒผใ‚ทใ‚น๏ผ‰ใฏใ€cystic fibrosis transmembrane conductance regulator๏ผˆCFTR๏ผ‰ใ‚’ๅŽŸๅ› ๅˆ†ๅญใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฐ—้“ๅ†…ๆถฒใ€่…ธ็ฎกๅ†…ๆถฒใ€่†ตๆถฒใชใฉๅ…จ่บซใฎๅˆ†ๆณŒๆถฒ๏ผ็ฒ˜ๆถฒใŒ่‘—ใ—ใ็ฒ˜็จ ใจใชใ‚Šใ€็ฎก่…”ใŒ้–‰ๅกžใ—ๆ„ŸๆŸ“ใ—ๆ˜“ใใชใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช็—‡ไพ‹ใงใฏใ€่ƒŽไพฟๆ€งใ‚คใƒฌใ‚ฆใ‚นใ‚’่ตทใ“ใ—ใ€่†ต่‡“ใŒ่Ž็ธฎใ—ใฆ่†ตๅค–ๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚’ๆฅใŸใ—ใ€ๅ‘ผๅธๅ™จๆ„ŸๆŸ“ใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ๆฑ—ไธญใฎๅกฉๅŒ–็‰ฉใ‚คใ‚ชใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใฏ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚Šใ€่จบๆ–ญใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber282
dcterms:identifier1200922NANDO:1200888
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/299-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/282-201704-kojin.pdf
rdfs:label - "Cystic fibrosis" + "Congenital dyserythropoietic anemia type III" @en
rdfs:label - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2041 + rdfs:label + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00218http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=84
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157963.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157228.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4531https://www.nanbyou.or.jp/entry/4363
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100013http://nanbyodata.jp/ontology/NANDO_1200885
+ skos:altLabel + "Congenital dyserythropoietic aanemia type III" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009061http://purl.obolibrary.org/obo/MONDO_0007109
skos:prefLabel - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III" @ja
- - + - - + + - + + + + + + + + + - + - + - - + + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1200923 +
http://nanbyodata.jp/ontology/NANDO_1200889 (rdf:type owl:Class @@ -71744,67 +83654,84 @@

hasNotificationNumber300hasNotificationNumber283
dcterms:description - "ๆœฌ้‚ฆใ‚ˆใ‚Š็™บไฟกใ•ใ‚ŒใŸๆ–ฐใ—ใ„ๆฆ‚ๅฟตใจใ—ใฆๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ็•ฐๅธธใ‚„่ก€ไธญIgG4้ซ˜ๅ€คใซๅŠ ใˆใ€ใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ่‘—ใ—ใ„ๆตธๆฝคใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚Šใ€ๅŒๆ™‚ๆ€งใ‚ใ‚‹ใ„ใฏ็•ฐๆ™‚ๆ€งใซๅ…จ่บซ่ซธ่‡“ๅ™จใฎ่…ซๅคงใ‚„็ต็ฏ€ใƒป่‚ฅๅŽšๆ€ง็—…ๅค‰ใชใฉใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฝนๆ‚ฃ่‡“ๅ™จใจใ—ใฆใฏ่†ต่‡“ใ€่ƒ†็ฎกใ€ๆถ™่…บใƒปๅ”พๆถฒ่…บใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็”ฒ็Šถ่…บใ€่‚บใ€่‚่‡“ใ€ๆถˆๅŒ–็ฎกใ€่…Ž่‡“ใ€ๅ‰็ซ‹่…บใ€ๅพŒ่…น่†œใ€ๅ‹•่„ˆใ€ใƒชใƒณใƒ‘็ฏ€ใ€็šฎ่†šใ€ไนณ่…บใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅค‰ใŒ่ค‡ๆ•ฐ่‡“ๅ™จใซๅŠใณๅ…จ่บซ็–พๆ‚ฃใจใ—ใฆใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅ˜ไธ€่‡“ๅ™จ็—…ๅค‰ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใ‚„ๆถ™่…บๅ”พๆถฒ่…บ็‚Ž๏ผˆใƒŸใ‚ฏใƒชใƒƒใƒ„็—…๏ผ‰ใชใฉใŒๅ…ธๅž‹็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏ่†ต็™Œใ‚„่ƒ†็ฎก็™Œใจ่ชค่จบใ•ใ‚Œใ€ๅค–็ง‘็š„ๆ‰‹่ก“ใ‚’ๅ—ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏๅ„่‡“ๅ™จ็—…ๅค‰ใซใ‚ˆใ‚Š็•ฐใชใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡“ๅ™จ่…ซๅคงใ€่‚ฅๅŽšใซใ‚ˆใ‚‹้–‰ๅกžใ€ๅœง่ฟซ็—‡็Šถใ‚„็ดฐ่ƒžๆตธๆฝคใ€็ทš็ถญๅŒ–ใซไผดใ†่‡“ๅ™จๆฉŸ่ƒฝไธๅ…จใชใฉๆ™‚ใซ้‡็ฏคใชๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใŒ็ฌฌไธ€้ธๆŠžใจใชใ‚‹ใŒใ€ๆธ›้‡ใ€ไธญๆ–ญใซใ‚ˆใฃใฆๅคšใใฎไพ‹ใงๅ†็™บใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ๅŠใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็—…ๅ› ใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚่ตค่Šฝ็ƒ็™†ใฎ็—…ๅž‹ๅˆ†้กžใจใ—ใฆๅคงใใใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200923NANDO:1200889
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/283-201704-kojin.pdf
rdfs:label - "IgG4-related disease" + "Acquired pure red cell aplasia" @en
rdfs:label - "IgG4้–ข้€ฃ็–พๆ‚ฃ" + "ใ“ใ†ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttp://nanbyodata.jp/ontology/NANDO_2200613
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01586
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157193.docx
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017287 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4450
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100006
skos:prefLabel - "IgG4้–ข้€ฃ็–พๆ‚ฃ" + "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200924 +
http://nanbyodata.jp/ontology/NANDO_1200890 (rdf:type owl:Class @@ -71812,65 +83739,91 @@

hasNotificationNumber300hasNotificationNumber284
+ dcterms:description + "่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ด„ๅŠๆ•ฐใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200924NANDO:1200890
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/284-201704-kojin.pdf
rdfs:label - "IgG4-related disease" + "Diamond-Blackfan anemia" @en
rdfs:label - "IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ" + "ใ ใ„ใ‚ใ‚‚ใ‚“ใฉใƒปใถใ‚‰ใฃใใตใใ‚“ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00237
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157239.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4420
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200923http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "Diamond-Blackfan anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017287http://purl.obolibrary.org/obo/MONDO_0015253
skos:prefLabel - "IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ" + "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200925 +
http://nanbyodata.jp/ontology/NANDO_1200891 (rdf:type owl:Class @@ -71878,65 +83831,96 @@

hasNotificationNumber300hasNotificationNumber285
+ dcterms:description + "ๆŸ“่‰ฒไฝ“ใฎ่„†ๅผฑๆ€งใ‚’่ƒŒๆ™ฏใซใ€๏ผ‘)้€ฒ่กŒๆ€งๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใ‚„็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€๏ผ“๏ผ‰่บซไฝ“ๅฅ‡ๅฝขใ€๏ผ”๏ผ‰ๅ›บๅฝขใŒใ‚“ใฎๅˆไฝตใ‚’ๆฅใ™ใ“ใจใฎใ‚ใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200925NANDO:1200891
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/285-201704-kojin.pdf
rdfs:label - "Autoimmune pancreatitis" + "Fanconi anemia" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + "ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttp://nanbyodata.jp/ontology/NANDO_1200303
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504http://nanbyodata.jp/ontology/NANDO_2200652
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157280.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4442
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200923http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "Fanconi anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015175http://purl.obolibrary.org/obo/MONDO_0019391
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200926 +
http://nanbyodata.jp/ontology/NANDO_1200892 (rdf:type owl:Class @@ -71944,60 +83928,86 @@

hasNotificationNumber300hasNotificationNumber286
+ dcterms:description + "้ชจ้ซ„ใซใŠใ„ใฆใ€ๆ ธใฎๅ‘จๅ›ฒใซ็’ฐ็Šถใซ้‰„ใŒๆฒˆ็€ใ—ใŸ่ตค่Šฝ็ƒ๏ผˆ็’ฐ็Šถ้‰„่Šฝ็ƒ๏ผ‰ใฎๅ‡บ็พใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ฒง่ก€ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใซไปฃ่กจใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฎ้‘‘ๅˆฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ„ใฆใฏ่ตค่ก€็ƒใซใŠใ‘ใ‚‹ใƒ˜ใƒ ๅˆๆˆใฎๅˆ็™บ้…ต็ด ใงใ‚ใ‚‹่ตค่ก€็ƒๅž‹ใ‚ขใƒŸใƒŽใƒฌใƒ–ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใฏXๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€งใฎ้บไผๅฝขๅผใ‚’ใจใ‚Šใ€็”ทๅ…ใซใฎใฟใซ็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier1200926NANDO:1200892
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/286-201704-kojin.pdf
rdfs:label - "diffuse-typeย autoimmune pancreatitis" + "Hereditary sideroblastic anemia" @en
rdfs:label - "ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + "ใ„ใงใ‚“ใ›ใ„ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00982
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157136.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4406
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200925http://nanbyodata.jp/ontology/NANDO_1100006
+ skos:altLabel + "Hereditary sideroblastic anaemia" + @en
skos:prefLabel - "ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + "้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" @ja
- - + - - + + + + + + - + - + + + + + - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200927 +
http://nanbyodata.jp/ontology/NANDO_1200893 (rdf:type owl:Class @@ -72005,126 +84015,101 @@

hasNotificationNumber300hasNotificationNumber287
+ dcterms:description + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พคใฏใ€MYH9้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใฎใฒใจใคใงใ€ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ€้€ฒ่กŒๆ€ง่…Ž้šœๅฎณ๏ผˆๅทฃ็Šถ็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใชใฉ๏ผ‰ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็™ฝๅ†…้šœใ‚’ใจใ‚‚ใชใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200927NANDO:1200893
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/287-201704-kojin.pdf
rdfs:label - "focal-type autoimmune pancreatitis" + "Epstein syndrome" @en
rdfs:label - "้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + "ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttp://nanbyodata.jp/ontology/NANDO_2200127
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200925
- skos:prefLabel - "้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" - @ja
- - - - - - - - - - - - - - - - - - + - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200928 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber300
- dcterms:identifier1200928
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-03-201704-kojin.pdf
- rdfs:label - "IgG4-related sclerosing cholangitis" - @enhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=949
- rdfs:label - "IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" - @ja + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00578
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157147.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504https://www.nanbyou.or.jp/entry/4651
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200923http://nanbyodata.jp/ontology/NANDO_1100014
+ skos:altLabel + "Epstein็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018645http://purl.obolibrary.org/obo/MONDO_0007954
skos:prefLabel - "IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200929 +
http://nanbyodata.jp/ontology/NANDO_1200894 (rdf:type owl:Class @@ -72132,65 +84117,67 @@

hasNotificationNumber300hasNotificationNumber287
dcterms:identifier1200929NANDO:1200894
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/287-201704-kojin.pdf
rdfs:label - "IgG4 related dacryoadenitis and sialadenitis" + "Severe Epstein syndrome" @en
rdfs:label - "IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰" + "ใ•ใ„ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157147.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504https://www.nanbyou.or.jp/entry/4651
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200923
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019191http://nanbyodata.jp/ontology/NANDO_1200893
skos:prefLabel - "IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰" + "ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200930 +
http://nanbyodata.jp/ontology/NANDO_1200895 (rdf:type owl:Class @@ -72198,65 +84185,67 @@

hasNotificationNumber300hasNotificationNumber287
dcterms:identifier1200930NANDO:1200895
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-05-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/287-201704-kojin.pdf
rdfs:label - "IgG4-related kidney disease" + "Moderate Epstein syndrome" @en
rdfs:label - "IgG4้–ข้€ฃ่…Ž่‡“็—…" + "ใกใ‚…ใ†ใจใ†ใ—ใ‚‡ใ†ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157147.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504https://www.nanbyou.or.jp/entry/4651
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200923
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018671http://nanbyodata.jp/ontology/NANDO_1200893
skos:prefLabel - "IgG4้–ข้€ฃ่…Ž่‡“็—…" + "ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200931 +
http://nanbyodata.jp/ontology/NANDO_1200896 (rdf:type owl:Class @@ -72264,72 +84253,86 @@

hasNotificationNumber301hasNotificationNumber288
dcterms:description - "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆmacular dystrophy๏ผ‰ใฏ็œผๅบ•ใฎ้ป„ๆ–‘้ƒจใซไธก็œผๆ€งใ€้€ฒ่กŒๆ€งใฎ็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆdystrophy๏ผ‰ใจใฏใ€้ž็‚Ž็—‡ๆ€งใ€้€ฒ่กŒๆ€งใฎๆ „้คŠไธŠใ‚ใ‚‹ใ„ใฏไปฃ่ฌไธŠใฎ็•ฐๅธธใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏใ€ไฝ•ใ‚‰ใ‹ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ้ป„ๆ–‘้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ่จบๆ–ญใซใฏใ€๏ผˆ๏ผ‘๏ผ‰ๅŸบๆœฌ็š„ใซไธก็œผๆ€งใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ’๏ผ‰ๅฎถๆ—ๆ€งใ€้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ“๏ผ‰ใชใ‚“ใ‚‰ๅค–ๅ› ใŒๅŠ ใ‚ใ‚‹ใ“ใจใชใ—ใซ็™บ็”Ÿใ™ใ‚‹ใ€‚๏ผˆ๏ผ”๏ผ‰ไป–่ฆš็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€่‡ช่ฆš็š„ๆฉŸ่ƒฝๆคœๆŸปๆ‰€่ฆ‹ใ€ใ„ใšใ‚Œใ‹ใ‚‰ใฟใฆใ‚‚ๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ๏ผ”ใคใฎ้ …็›ฎใ‚’ๆบ€ใŸใ™๏ผˆๅŽš็”Ÿ็œ็‰นๆ€ง็–พๆ‚ฃ็ถฒ่†œ่„ˆ็ตก่†œ่Ž็ธฎ็—‡่ชฟๆŸป็ ”็ฉถ็ญใ€€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ่จบๆ–ญใฎๆ‰‹ๅผ•ใใ‚’ๅ‚็…ง๏ผ‰ใ€‚ใชใŠ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็‹ญ็พฉใซใฏ็—…ๅค‰ใŒ้ป„ๆ–‘้ƒจใซ้™ๅฑ€ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใŒใ€ๅคšใใฎ็—…ๅž‹ใซใŠใ„ใฆ็—…ๅค‰ใฏ้ป„ๆ–‘้ƒจใ‹ใ‚‰ๅพŒๆฅต้ƒจใซๅบƒใŒใ‚Šใ€ใจใใซๅ‘จ่พบ้ƒจ็ถฒ่†œใพใงๅŠใถใ“ใจใŒใ‚ใ‚‹ใ€‚" + "่ก€ๆถฒใŒๅ‡ๅ›บใ™ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใงใ‚ใ‚‹ๅ‡ๅ›บๅ› ๅญใŒใ€ๅ…ˆๅคฉๆ€งใ‚„้บไผๆ€งใงใฏใชใ„็†็”ฑใง่‘—ใ—ใๆธ›ๅฐ‘ใ™ใ‚‹ใŸใ‚ใ€ๆญข่ก€ใฎใŸใ‚ใฎๆญข่ก€ๆ “ใŒใงใใซใใใชใฃใŸใ‚Šใ€ๅผฑใใชใฃใฆ็ฐกๅ˜ใซๅฃŠใ‚Œใ‚„ใ™ใใชใ‚Šใ€่‡ช็„ถใซใ‚ใ‚‹ใ„ใฏ่ปฝใ„ๆ‰“ๆ’ฒใชใฉใงใ•ใˆ้‡ใ„ๅ‡บ่ก€ใ‚’่ตทใ“ใ™็–พ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆฌ ไนใ™ใ‚‹ๅ‡ๅ›บๅ› ๅญใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€๏ผ‘๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXIII๏ผ13ๅ› ๅญ๏ผˆF13๏ผ‰ๆฌ ไน็—‡๏ผˆๆ—ง็งฐ๏ผš่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII๏ผ‰ใ€ใ€๏ผ’๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌVIII๏ผ8ๅ› ๅญ๏ผˆF8๏ผ‰ๆฌ ไน็—‡๏ผˆๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A๏ผ‰ใ€ใ€๏ผ“๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆvon Willebrand factor๏ผšVWF๏ผ‰ๆฌ ไน็—‡๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…๏ผˆvon Willebrand Disease๏ผšVWD๏ผ‰๏ผ‰ใ€ใ€๏ผ”๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌV๏ผ5ๅ› ๅญ๏ผˆF5๏ผ‰ๆฌ ไน็—‡๏ผˆใ„ใ‚ใ‚†ใ‚‹็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ๏ผ‰ใ€ใฎ๏ผ”็–พ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier1200931NANDO:1200896
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdf
rdfs:label - "Macular dystrophy" + "autoimmune acquired coagulation factor deficiency" @en
rdfs:label - "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01770 + rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.nanbyou.or.jp/entry/4648
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "AiCFD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020599
skos:prefLabel - "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200932 +
http://nanbyodata.jp/ontology/NANDO_1200897 (rdf:type owl:Class @@ -72337,79 +84340,93 @@

hasNotificationNumber301hasNotificationNumber288
dcterms:identifier1200932NANDO:1200897
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdf
rdfs:label - "Vitelliform macular dystrophy" + "Autoimmune hemorrhaphilia XIII/13" @en
rdfs:label - "ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„13/13ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.nanbyou.or.jp/entry/4649
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200931http://nanbyodata.jp/ontology/NANDO_1200896
skos:altLabel - "Best vitelliform macular dystrophy" + "AH13" @en
skos:altLabel - "ใƒ™ใ‚นใƒˆ็—…" + "Autoimmune haemorrhaphilia XIII/13" + @en
+ skos:altLabel + "่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000390http://purl.obolibrary.org/obo/MONDO_0021133
skos:prefLabel - "ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200933 +
http://nanbyodata.jp/ontology/NANDO_1200898 (rdf:type owl:Class @@ -72417,65 +84434,86 @@

hasNotificationNumber301hasNotificationNumber288
dcterms:identifier1200933NANDO:1200898
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdf
rdfs:label - "Stargardt disease" + "Acquired hemophilia A" @en
rdfs:label - "Stargardt็—…" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„8/8ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.nanbyou.or.jp/entry/4649
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200931http://nanbyodata.jp/ontology/NANDO_1200896
+ skos:altLabel + "Acquired haemophilia A" + @en
+ skos:altLabel + "ๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019353http://purl.obolibrary.org/obo/MONDO_0019139
skos:prefLabel - "Stargardt็—…" + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200934 +
http://nanbyodata.jp/ontology/NANDO_1200899 (rdf:type owl:Class @@ -72483,75 +84521,93 @@

hasNotificationNumber301hasNotificationNumber288
dcterms:identifier1200934NANDO:1200899
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdf
rdfs:label - "Occult macular dystrophy" + "Acquired von Willebrand disease" @en
rdfs:label - "ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใตใ‰ใ‚“ใ†ใƒใ‚‹ใถใ‚‰ใ‚“ใฉใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7560https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docx
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01010https://www.nanbyou.or.jp/entry/4648
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200896
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798 + skos:altLabel + "AVWD" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200931 + skos:altLabel + "AVWD" + @ja
+ skos:altLabel + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013316http://purl.obolibrary.org/obo/MONDO_0020460
skos:prefLabel - "ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200935 +
http://nanbyodata.jp/ontology/NANDO_1200900 (rdf:type owl:Class @@ -72559,60 +84615,88 @@

hasNotificationNumber301hasNotificationNumber288
dcterms:identifier1200935NANDO:1200900
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/288-201804-kojin.pdf
rdfs:label - "Cone-rod dystrophy and cone dystrophy" + "Acquired Factor V Inhibitor" @en
rdfs:label - "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„5/5ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198085.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.nanbyou.or.jp/entry/4648
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200931http://nanbyodata.jp/ontology/NANDO_1200896
+ skos:altLabel + "AF5D" + @en
+ skos:altLabel + "็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ" + @ja
+ skos:altLabel + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งF5ๆฌ ไน็—‡" + @ja
skos:prefLabel - "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200936 +
http://nanbyodata.jp/ontology/NANDO_1200901 (rdf:type owl:Class @@ -72620,72 +84704,89 @@

hasNotificationNumber301hasNotificationNumber289
+ dcterms:description + "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€๏ผˆCronkhite-canada๏ผ‰็—‡ๅ€™็พคใฏใ€ๆถˆๅŒ–็ฎก๏ผˆ็‰นใซ่ƒƒใƒปๅคง่…ธ๏ผ‰ใซๅคšๆ•ฐใฎ้ž่…ซ็˜ๆ€งใƒใƒชใƒผใƒ—ใŒ็™บ็”Ÿใ™ใ‚‹้ž้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็—‡็Šถ๏ผˆ่„ฑๆฏ›ใƒป็ˆช็”ฒ่Ž็ธฎใƒป็šฎ่†š่‰ฒ็ด ๆฒˆ็€๏ผ‰ใ‚’ไผดใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚„่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ‚’้ซ˜็Ž‡ใซไผดใ†ใ€‚ไธญ้ซ˜ๅนดใฎ็”ทๆ€งใซๅคšใ„ใ€‚ไธ–็•Œ็š„ใซๅธŒๅฐ‘ใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅ ฑๅ‘Šใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚" + @ja
dcterms:identifier1200936NANDO:1200901
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/289-201704-kojin.pdf
rdfs:label - "Cone dystrophy" + "Cronkhite-Canada syndrome" @en
rdfs:label - "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใใ‚ใ‚“ใ‹ใ„ใจใƒปใ‹ใชใ ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1255
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01874
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200935 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157182.docx
- skos:altLabel - "COD" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4606
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100013
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000455http://purl.obolibrary.org/obo/MONDO_0008283
skos:prefLabel - "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200937 +
http://nanbyodata.jp/ontology/NANDO_1200902 (rdf:type owl:Class @@ -72693,82 +84794,91 @@

hasNotificationNumber301hasNotificationNumber290
+ dcterms:description + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€่‹ฅๅนดๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฏไธญๅฟƒ้™่„ˆๆ „้คŠ้‡ๆณ•ไปฅๅค–ใฎใ‚ใ‚‰ใ‚†ใ‚‹ๆฒป็™‚ๆณ•ใซๆŠตๆŠ—ๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200937NANDO:1200902
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/290-201704-kojin.pdf
rdfs:label - "Cone-rod dystrophy" + "Chronic nonspecific multiple ulcers of the small intestine" @en
rdfs:label - "้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=330http://nanbyodata.jp/ontology/NANDO_2200925
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01853
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157276.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4708
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200935http://nanbyodata.jp/ontology/NANDO_1100013
skos:altLabel - "CORD" + "Chronic nonspecific multiple ulcers of the small intestine" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007362
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015993
skos:prefLabel - "้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + - + + "Hirschsprung Disease (Entire Colon type / Extensive type)" + @en - +
http://nanbyodata.jp/ontology/nando#1200938 +
http://nanbyodata.jp/ontology/NANDO_1200903 (rdf:type owl:Class @@ -72776,77 +84886,96 @@

hasNotificationNumber301hasNotificationNumber291
+ dcterms:description + "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10๏ผ…็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200938NANDO:1200903
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdf
rdfs:label - "X-linked juvenile retinoschisis" + "Hirschsprung disease" @en
rdfs:label - "X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡" + "ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3557http://nanbyodata.jp/ontology/NANDO_2200945
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00910
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4699
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200931http://nanbyodata.jp/ontology/NANDO_1100013
skos:altLabel - "XๆŸ“่‰ฒไฝ“่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010725http://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡" + "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - + + - + - + + "ใกใ‚‡ใใกใ‚‡ใ†ใ‹ใถใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200939 +
http://nanbyodata.jp/ontology/NANDO_1200904 (rdf:type owl:Class @@ -72854,70 +84983,72 @@

hasNotificationNumber301hasNotificationNumber291
dcterms:identifier1200939NANDO:1200904
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdf
rdfs:label - "Central areolar choroidal dystrophy" + "Short-segment hirschsprung's disease" @en
rdfs:label - "ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01768 + rdfs:label + "็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798https://www.nanbyou.or.jp/entry/4699
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200931http://nanbyodata.jp/ontology/NANDO_1200903
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008982http://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - - - - - + + - + - + - - - - - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200940 +
http://nanbyodata.jp/ontology/NANDO_1200905 (rdf:type owl:Class @@ -72925,89 +85056,72 @@

hasNotificationNumber302
- dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้บไผๅญๅค‰็•ฐใŒๆฏ็ณป้บไผๅฝขๅผใ‚’่ฆๅฎšใ—ใ€ไป–ใฎ้บไผๅ› ๅญใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚คใƒƒใ‚ฏไฟฎ้ฃพใ€็’ฐๅขƒๅ› ๅญใŒ็™บ็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนด็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๆฏ็ณป้บไผใฎใŸใ‚ใ€็ฝนๆ‚ฃ็”ทๆ€งใฎๅญๅญซใซใฏๆ‚ฃ่€…ใฏ็พใ‚Œใšใ€็„กๅ…†ๅ€™ๅฅณๆ€งไฟๅ› ่€…ใฎๅญๅญซใซๆ‚ฃ่€…ใŒ็พใ‚Œใ‚‹ใ€‚ไธ€็œผใฎ่ฆ–ๅŠ›ไฝŽไธ‹ใ€ไธญๅฟƒๆš—็‚นใงๅง‹ใพใ‚Šใ€ไธๅฎšๆœŸ้–“ใ‚’ใŠใ„ใฆๅๅฏพ็œผใ‚‚ๅŒๆง˜ใฎ็—‡็Šถใ‚’็คบใ™ใ€‚็ถฒ่†œ็ฅž็ตŒ็ฏ€็ดฐ่ƒžใŒๅค‰ๆ€ง่„ฑ่ฝใ—ใ€ๆ•ฐใ‹ๆœˆใฎใ†ใกใซใ€ไธก็œผใฎ้ซ˜ๅบฆ่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ„ใŸใ‚‹๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›0.1ไปฅไธ‹๏ผ‰ใ€‚" - @jahasNotificationNumber291
dcterms:identifier1200940NANDO:1200905
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/302-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdf
rdfs:label - "Leber hereditary optic neuropathy" + "Rectosigmoid Hirschsprung's disease" @en
rdfs:label - "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡" + "S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3604
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00068 + rdfs:label + "ใˆใ™ใ˜ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157965.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4660https://www.nanbyou.or.jp/entry/4699
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011
- skos:altLabel - "ใƒฌใƒผใƒ™ใƒซ็—…" - @jahttp://nanbyodata.jp/ontology/NANDO_1200903
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010788http://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡" + "S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - - - - - + + - + - + + "ใ•ใ‚†ใ†ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200941 +
http://nanbyodata.jp/ontology/NANDO_1200906 (rdf:type owl:Class @@ -73015,77 +85129,72 @@

hasNotificationNumber303
- dcterms:description - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ๏ผˆUsher๏ผ‰็—‡ๅ€™็พคใฏใ€้›ฃ่ดใซ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ‚’ไผดใ†็—‡ๅ€™็พคๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ฃ่ดใฎ็จ‹ๅบฆใฏไธญ็ญ‰ๅบฆ๏ฝž้‡ๅบฆ้›ฃ่ดใพใงใจๅน…ๅบƒใใ€ๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใ‚’ๅ ใ‚ใ‚‹ใ€‚ใพใŸ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€งใฏ้…็™บๆ€งใซ็™บ็—‡ใ—ใ€ๅพใ€…ใซ่ฆ–้‡Ž็‹ญ็ช„ใŒ้€ฒ่กŒใ—ใฆ็คพไผš็š„ๅคฑๆ˜Žใจใชใ‚‹ไพ‹ใŒๅคšใ„ใ€‚" - @jahasNotificationNumber291
dcterms:identifier1200941NANDO:1200906
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdf
rdfs:label - "Usher syndrome" + "Long-segment Hirschsprung's disease" @en
rdfs:label - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00779 + rdfs:label + "ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4624https://www.nanbyou.or.jp/entry/4699
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011http://nanbyodata.jp/ontology/NANDO_1200903
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019501http://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค" + "ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - + + - + - + + "ใœใ‚“ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200942 +
http://nanbyodata.jp/ontology/NANDO_1200907 (rdf:type owl:Class @@ -73093,70 +85202,72 @@

hasNotificationNumber303hasNotificationNumber291
dcterms:identifier1200942NANDO:1200907
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdf
rdfs:label - "Usher Syndrome Type I" + "Entire colon Hirschsprung disease" @en
rdfs:label - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3155 + rdfs:label + "ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4624https://www.nanbyou.or.jp/entry/4699
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200941http://nanbyodata.jp/ontology/NANDO_1200903
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010168http://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹" + "ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200943 +
http://nanbyodata.jp/ontology/NANDO_1200908 (rdf:type owl:Class @@ -73164,65 +85275,72 @@

hasNotificationNumber303hasNotificationNumber291
dcterms:identifier1200943NANDO:1200908
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/291-201704-kojin.pdf
rdfs:label - "Usher Syndrome Type II" + "Extensive aganglionosis Hirschsprung disease" @en
rdfs:label - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹" + "ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157277.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4624https://www.nanbyou.or.jp/entry/4699
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200941http://nanbyodata.jp/ontology/NANDO_1200903
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016484http://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹" + "ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200944 +
http://nanbyodata.jp/ontology/NANDO_1200909 (rdf:type owl:Class @@ -73230,75 +85348,94 @@

hasNotificationNumber303hasNotificationNumber292
+ dcterms:description + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏไฝŽๅฝขๆˆใง็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่…Ÿๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ€€็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ15๏ฝž20ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๆ€งๅˆฅใงใฏใ€่‹ฅๅนฒๅฅณๅ…ใซๅคšใ„ใ€‚ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€229ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„20ไธ‡ใฎๅ‡บ็”Ÿใซ1ไบบใงใ‚ใฃใŸใ€‚" + @ja
dcterms:identifier1200944NANDO:1200909
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/292-201704-kojin.pdf
rdfs:label - "Usher Syndrome Type III" + "Cloacal exstrophy" @en
rdfs:label - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹" + "ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3157http://nanbyodata.jp/ontology/NANDO_2200951
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2761
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4624https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01856
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200941 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157237.docx
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010170 + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4591
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100013
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016485http://purl.obolibrary.org/obo/MONDO_0009774
skos:prefLabel - "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹" + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200945 +
http://nanbyodata.jp/ontology/NANDO_1200910 (rdf:type owl:Class @@ -73306,79 +85443,94 @@

hasNotificationNumber304hasNotificationNumber293
dcterms:description - "่‹ฅๅนด๏ผˆ40ๆญณๆœชๆบ€๏ผ‰ใง็™บ็—‡ใ™ใ‚‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ‚’ใ•ใ™ใ€‚ๅพ“ๆฅใ‹ใ‚‰ๅŽŸๅ› ไธๆ˜Žใฎๆ„Ÿ้Ÿณ้›ฃ่ดใฎใ†ใกใ€ไธกๅดๆ€งใซ้›ฃ่ดใŒ้€ฒ่กŒใ™ใ‚‹็–พๆ‚ฃใ‚’ใ€Œ็‰น็™บๆ€งไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ€ใจใ—ใฆใใŸใŒใ€่€ไบบๆ€ง้›ฃ่ดใจใฎ้‘‘ๅˆฅใŒๅฟ…ใšใ—ใ‚‚ๅฎนๆ˜“ใงใฏใชใ‹ใฃใŸใ€‚ใใ“ใงๆญฃ็ขบใซ้‘‘ๅˆฅ่จบๆ–ญใŒ่กŒใˆใ‚‹ใ‚ˆใ†ๅนด้ฝข่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ้…็™บๆ€ง้›ฃ่ดใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ€ๆ—ข็Ÿฅใฎๅค–็š„ๅ› ๅญใ€ไพ‹ใˆใฐ้จ’้Ÿณใ€ๅค–ๅ‚ทใ€่–ฌๅ‰คใ€ๆ€ฅๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏ้™คใใจใ„ใ†้™คๅค–่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚่ฟ‘ๅนดใ€้บไผๅญใจใฎ้–ข้€ฃใŒๅฐ‘ใ—ใšใคๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใใฆใ„ใ‚‹ใŒ็—…ๆ…‹่งฃๆ˜Žใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ๅพŒๅคฉ็š„ใซ็™บ็—‡ใ€้€ฒ่กŒใ—ไธกๅด้‡ๅบฆ้›ฃ่ดใƒปใ‚ใ†ใจใชใ‚‹ไพ‹ใชใฉๆง˜ใ€…ใช็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ่จ€่ชž็™บ้”ใ‚„ๆ•™่‚ฒใฎใปใ‹็คพไผš็”Ÿๆดปใ‚„ๆ—ฅๅธธ็”Ÿๆดปใซๅคงใใชๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ใพใŸๆฒป็™‚ๆณ•ใŒๆœช็ขบ็ซ‹ใงใ‚ใ‚Š้•ทๆœŸ็š„ใช็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใฎ่งฃๆ˜Žใ‚„ๆฒป็™‚ๆณ•ใฎ้–‹็™บใฏ้‡่ฆใช่ชฒ้กŒใงใ‚ใ‚‹ใ€‚่จบๆ–ญๅŸบๆบ–ใซใ‚‚ใจใฅใ„ใŸๆ‚ฃ่€…ๆ•ฐใฏๅคšใใชใ„ใ€‚" + "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่…Ÿใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ๏ผ•๏ฝž๏ผ™้€ฑใซใ‹ใ‘ใฆ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่…Ÿใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่…Ÿๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ๏ผ–๏ฝž10ไธ‡ใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ466ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„10ไธ‡ใฎๅ‡บ็”Ÿใซ๏ผ‘ไบบใงใ‚ใฃใŸใ€‚" @ja
dcterms:identifier1200945NANDO:1200910
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/304-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/293-201704-kojin.pdf
rdfs:label - "Juvenile Bilateral Sensorineural Hearing Loss" + "Persistent cloaca" @en
rdfs:label - "่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด" + "ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“" + @ja-Hira
+ rdfs:label + "็ทๆŽ’ๆณ„่…”้บๆฎ‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01705http://nanbyodata.jp/ontology/NANDO_2200950
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157962.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2761
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4627https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01858
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157236.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4588
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100015http://nanbyodata.jp/ontology/NANDO_1100013
- skos:altLabel - "Juvenile-onset bilateral sensorineural hearing loss" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009774
skos:prefLabel - "่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด" + "็ทๆŽ’ๆณ„่…”้บๆฎ‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200946 +
http://nanbyodata.jp/ontology/NANDO_1200911 (rdf:type owl:Class @@ -73386,72 +85538,89 @@

hasNotificationNumber305hasNotificationNumber294
dcterms:description - "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใจใฏใ€้™ณๆ—งๆ€ง้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใฎ้…็™บๆ€ง็ถš็™บ็—‡ใจใ—ใฆๅ†…่€ณใซๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใŒ็”Ÿใ˜ใ€ใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ๅ†…่€ณๆ€งใ‚ใพใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡่€ณๅˆใฏไธก่€ณใฎ้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใŒๅ…ˆ่กŒใ—ใ€ๆ•ฐๅนดใ‹ใ‚‰ๆ•ฐๅๅนดใฎๅพŒใซใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ใŒใ€้›ฃ่ดใฏๅค‰ๅ‹•ใ—ใชใ„ใ€‚" + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚่ƒธ่…”ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200946NANDO:1200911
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/305-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/294-201704-kojin.pdf
rdfs:label - "Delayed endolymphatic hydrops" + "Congenital diaphragmatic hernia" @en
rdfs:label - "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01706http://nanbyodata.jp/ontology/NANDO_2200210
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157249.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01241
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/148https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157224.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4510
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100015http://nanbyodata.jp/ontology/NANDO_1100010
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005711
skos:prefLabel - "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ" + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" @ja
- - + - - + + - + - + + "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…" + @ja-Hira - - + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200947 +
http://nanbyodata.jp/ontology/NANDO_1200912 (rdf:type owl:Class @@ -73459,72 +85628,81 @@

hasNotificationNumber306hasNotificationNumber295
dcterms:description - "ไธกๅดใฎๅคš็™บๆ€ง้ผป่Œธใจ็ฒ˜่ชฟใช้ผปๆฑใซใ‚ˆใ‚Šใ€้ซ˜ๅบฆใฎ้ผป้–‰ใจๅ—…่ฆš้šœๅฎณใ‚’็คบใ™ใ€ๆˆไบบ็™บ็—‡ใฎ้›ฃๆฒปๆ€งๅ‰ฏ้ผป่…”็‚Žใงใ‚ใ‚‹ใ€‚ๆŠ—่Œ่–ฌใฏ็„กๅŠนใงใ‚ใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๅ†…ๆœใซใฎใฟๅๅฟœใ™ใ‚‹ใ€‚้ผป่…”ๅ†…ใซ้ผป่ŒธใŒๅ……ๆบ€ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€้ผปๅ‰ฏ้ผป่…”ๆ‰‹่ก“ใง้ผป่Œธใฎๆ‘˜ๅ‡บใ‚’่กŒใ†ใŒใ€ใ™ใใซๅ†็™บใ™ใ‚‹ใ€‚้ผป้–‰ใจๅ—…ไธŠ็šฎใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ—…่ฆšใฏๆถˆๅคฑใ™ใ‚‹ใ€‚ๅ—…่ฆš้šœๅฎณใฎใŸใ‚้ขจๅ‘ณ้šœๅฎณใ‚’ๅซใ‚ใŸๅ‘ณ่ฆš้šœๅฎณใ‚’ๆฅใ™ใ€‚ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใ‚นใƒ”ใƒชใƒณๅ–˜ๆฏ๏ผˆใ‚ขใ‚นใƒ”ใƒชใƒณไธ่€็—‡๏ผ‰ใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚้ผป้–‰ใฎใŸใ‚ใฎๅฃๅ‘ผๅธใŒๅ–˜ๆฏ็™บไฝœใ‚’่ช˜็™บใ—ใ€่‘—ใ—ใ„ๅ‘ผๅธ้šœๅฎณใ‚’่ตทใ“ใ™ใ€‚ใพใŸไธญ่€ณ็‚Žใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅฅฝ้…ธ็ƒๆ€งไธญ่€ณ็‚Žใจๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎไธญ่€ณ็‚Žใฏใ€้›ฃๆฒปๆ€งใง่ดๅŠ›้šœๅฎณใฏ้€ฒ่กŒใ—ใ€่พใซ่‡ณใ‚‹ใ€‚้ผป็ฒ˜่†œใซใฏๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŒใ€ไธญ่€ณ็‚Žใ‚’ไผดใ†ใจ่€ณๆผใซใ‚‚ๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใฏใ€ๆœฌ็–พๆ‚ฃใŒ่‰ฏๆ€ง็–พๆ‚ฃใฎใŸใ‚ใ€ไธปๆฒปๅŒปใฏ็ถ™็ถšไฝฟ็”จใซใŸใ‚ใ‚‰ใ„ใ‚’ๆ„Ÿใ˜ใ€ๆ•ฐใ‹ๆœˆใงๆŠ•ไธŽใ‚’ไธญๆญขใ™ใ‚‹ใจๅข—ๆ‚ชใ‚’ใ™ใ‚‹ใ€‚ไธŠๆฐ—้“ๆ„ŸๆŸ“ใซใ‚ˆใฃใฆใ‚‚็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹ใŸใ‚ๅ†ๅบฆ็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใ‚’ๆŠ•ไธŽใ›ใ–ใ‚‹ใ‚’ๅพ—ใชใ„็Šถๆณใจใชใ‚‹ใ€‚" + "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใ‚’ๅŒ…ๅซใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใฏ็„ก็—‡ๅ€™ๆ€งใ ใŒใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€่‡ดๆญป็š„็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็‹ฌ็ซ‹ใ—ใŸ่‡จๅบŠ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚ŒใŸใ€‚ๅนณๆˆ22ๅนดๅบฆใ‹ใ‚‰ใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ่ชฟๆŸปใงใฏใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ–ฐ่ฆ็™บ็—‡ไพ‹ๆ•ฐใฏๅนด้–“๏ผ•๏ฝž10ไพ‹็จ‹ๅบฆใจๆŽจๅฎšใ•ใ‚Œใ€ๆ˜Žใ‚‰ใ‹ใช็”ทๅฅณๅทฎใฏใชใ„ใ€‚ๅคšใใฏไนณๅ…ๆœŸๆ—ฉๆœŸใพใงใซ่จบๆ–ญใ•ใ‚Œใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญไพ‹ใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ็—‡ไพ‹ใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใฏ้‡็—‡ใง้ซ˜ใƒชใ‚นใ‚ฏใจใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸไปฅ้™ใซใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใฎ่‚ๅ†…้–€่„ˆ่‚้™่„ˆใ‚ทใƒฃใƒณใƒˆใฎๆต้‡ๅข—ๅคงใ‹ใ‚‰ใ€่‚็กฌๅค‰็—‡ใ€่‚ๆฉŸ่ƒฝไฝŽไธ‹ใŒ้€ฒ่กŒใ—ใ€่‚ไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใฎใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€่‡ดๆญป็š„ใชๆ€ฅๆ€งๆœŸ็—‡็Šถใจๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใฎๅŒๆ–นใŒๅ•้กŒใจใชใฃใฆใ„ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใซๅฏพใ—ใฆใฏ่‚็งปๆคไปฅๅค–ใซๆ นๆฒป็š„ใชๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚" @ja
dcterms:identifier1200947NANDO:1200912
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/306-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/295-201704-kojin.pdf
rdfs:label - "Eosinophilic sinusitis" + "Infantile giant hepatic hemangiomas" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01765 + rdfs:label + "ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157188.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157260.doc
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4537https://www.nanbyou.or.jp/entry/4639
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100013
+ skos:altLabel + "Infantile giant hepatic haemangiomas" + @en
skos:prefLabel - "ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž" + "ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200948 +
http://nanbyodata.jp/ontology/NANDO_1200913 (rdf:type owl:Class @@ -73532,82 +85710,106 @@

hasNotificationNumber307hasNotificationNumber296
dcterms:description - "ใ‚ซใƒŠใƒใƒณ็—…ใฏใ€ใ‚ขใ‚นใƒ‘ใƒซใƒˆใ‚ขใ‚ทใƒฉใƒผใ‚ผ๏ผˆaspartoacylase๏ผšASPA๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžข็ฅž็ตŒ็ณปใซๅคง้‡ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€็จฎใงใ‚ใ‚‹N-ใ‚ขใ‚ปใƒใƒซใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธ๏ผˆN-acetyl-aspartate๏ผšNAA๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็™ฝ่ณชใฎใƒŸใ‚จใƒชใƒณ้ž˜ใฎ็ฉบ่ƒžๅŒ–ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€งใงไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅบงไฝใ‚„็™บ่ชžใ‚’็ฒๅพ—ใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚Šๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใชใฉใงๆญปไบกใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚" + "่ƒ†้“้–‰้Ž–็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‚Ž็—‡ๆ€งใซ่‚ๅค–่ƒ†็ฎก็ต„็น”ใฎ็ ดๅฃŠใŒ่ตทใ“ใ‚Šใ€ๆง˜ใ€…ใชใƒฌใƒ™ใƒซใงใฎ่‚ๅค–่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จไฝ“ใฎ็ด„85๏ผ…ใŒ่‚้–€้ƒจใซใŠใ„ใฆ่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸๅคšใใฎ็—‡ไพ‹ใง็‚Ž็—‡ๆ€งใฎ่ƒ†็ฎก้šœๅฎณใฏ่‚ๅค–่ƒ†็ฎกใฎใฟใชใ‚‰ใš่‚ๅ†…ใฎๅฐ่‘‰้–“่ƒ†็ฎกใพใงใŠใ‚ˆใ‚“ใงใ„ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ10,000ใ‹ใ‚‰15,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1989ๅนดใ‹ใ‚‰่กŒใ‚ใ‚Œใฆใ„ใ‚‹ๆ—ฅๆœฌ่ƒ†้“้–‰้Ž–็—‡็ ”็ฉถไผšใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็™ป้Œฒใซใฏ2010ๅนดใพใงใซ2516ไพ‹ใฎ็™ป้ŒฒใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200948NANDO:1200913
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/307-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdf
rdfs:label - "Canavan disease" + "Biliary atresia" @en
rdfs:label - "ใ‚ซใƒŠใƒใƒณ็—…" + "ใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ƒ†้“้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3061http://nanbyodata.jp/ontology/NANDO_2200930
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00074http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1839
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156561.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01855
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5413https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4736
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100013
+ skos:altLabel + "BA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010079http://purl.obolibrary.org/obo/MONDO_0008867
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0028737
skos:prefLabel - "ใ‚ซใƒŠใƒใƒณ็—…" + "่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - - - - - + + - + + + + + + + + + - + - - - - - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200949 +
http://nanbyodata.jp/ontology/NANDO_1200914 (rdf:type owl:Class @@ -73615,74 +85817,72 @@

hasNotificationNumber308
- dcterms:description - "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡๏ผˆMegalencephalic leukoencephalopathy with subcortical cysts๏ผ‰ใ€็™ฝ่ณชๆถˆๅคฑ็—…๏ผˆLeukoencephalopathy with vanishing white matter๏ผ‰ใ€ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆLeukoencephalopathy, progressive, with ovarian failure๏ผ‰ใฏใ€ไธ€ๅฎšๅนด้ฝขใพใงใฏๆญฃๅธธใซ็™บ้”ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅพŒใซ้€ฒ่กŒๆ€งใซๅคง่„ณ็™ฝ่ณช้šœๅฎณใ‚’ๆฅใ—ใ€ๅพใ€…ใซ้€€่กŒใ™ใ‚‹้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใฏใ€ๅคง่„ณ็™ฝ่ณช้šœๅฎณใŒ่ปฝๅบฆ้ ญ้ƒจๅค–ๅ‚ทใ‚„ๆ„ŸๆŸ“็—‡ใซใ‚ˆใ‚‹้ซ˜็†ฑใชใฉใ‚’ๅฅ‘ๆฉŸใซ้šŽๆฎต็Šถใซๆ‚ชๅŒ–ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„่ช็ŸฅๆฉŸ่ƒฝใฎไฝŽไธ‹ใ€ๅ››่‚ข้บป็—บ็—‡็Šถใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๅธธ็”Ÿๆดป่ƒฝๅŠ›ใฎไฝŽไธ‹ใŒๅพใ€…ใซ้ก•่‘—ใจใชใ‚‹ใ€‚ๆœ€็ต‚็š„ใซใฏๅฏใŸใใ‚Šใซใชใ‚Šใ€ๅŒป็™‚็š„ใ‚ฑใ‚ขใŒๅฟ…่ฆใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŒไธ€็–พๆ‚ฃใงใ‚ใฃใฆใ‚‚็™บ็—‡ๅนด้ฝขใฎๅน…ใฏๅบƒใใ€ไนณๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰ๆˆไบบๆœŸไปฅ้™ใฎ็™บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIๆคœๆŸปใซใ‚ˆใ‚‹ๅคง่„ณ็™ฝ่ณชใฎT2W้ซ˜ไฟกๅทใ‚„ๅšข่ƒžๅŒ–ใŒ็‰นๅพดใงใ‚ใ‚‹ใŒใ€็”ŸๅŒ–ๅญฆ็š„ๆคœๆŸปใชใฉใฎๅฎข่ฆณ็š„ใชๆŒ‡ๆจ™ใฏใชใใ€็ขบๅฎš่จบๆ–ญใฏ้บไผๅญ่จบๆ–ญใซใ‚ˆใ‚‹ใ—ใ‹ใชใ„ใ€‚" - @jahasNotificationNumber296
dcterms:identifier1200949NANDO:1200914
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdf
rdfs:label - "Progressive multifocal leukoencephalopathy" + "1ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "Type I biliary atresia" @en
rdfs:label - "้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" + "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docxhttp://nanbyodata.jp/ontology/NANDO_2201327
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5416
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docx
- skos:altLabel - "Leukoencephalopathy" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4736
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016318 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200913
skos:prefLabel - "้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" + "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200950 +
http://nanbyodata.jp/ontology/NANDO_1200915 (rdf:type owl:Class @@ -73690,70 +85890,72 @@

hasNotificationNumber308hasNotificationNumber296
dcterms:identifier1200950NANDO:1200915
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/308-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdf
+ rdfs:label + "1ใ—ใ™ใจใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label - "Megalencephalic leukoencephalopathy with subcortical cysts" + "Type I cystic biliary atresia" @en
rdfs:label - "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" + "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00875http://nanbyodata.jp/ontology/NANDO_2201328
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5416https://www.nanbyou.or.jp/entry/4736
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200949
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011391http://nanbyodata.jp/ontology/NANDO_1200913
skos:prefLabel - "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" + "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - + + - + - + + "2ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200951 +
http://nanbyodata.jp/ontology/NANDO_1200916 (rdf:type owl:Class @@ -73761,70 +85963,72 @@

hasNotificationNumber308hasNotificationNumber296
dcterms:identifier1200951NANDO:1200916
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/308-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdf
rdfs:label - "Leukoencephalopathy with vanishing white matter" - @en
rdfs:label - "็™ฝ่ณชๆถˆๅคฑ็—…" + "IIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
+ rdfs:label + "Type II biliary atresia" + @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4193http://nanbyodata.jp/ontology/NANDO_2201329
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5416https://www.nanbyou.or.jp/entry/4736
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200949
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011380http://nanbyodata.jp/ontology/NANDO_1200913
skos:prefLabel - "็™ฝ่ณชๆถˆๅคฑ็—…" + "IIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - + + - + - + + "3ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200952 +
http://nanbyodata.jp/ontology/NANDO_1200917 (rdf:type owl:Class @@ -73832,75 +86036,72 @@

hasNotificationNumber308hasNotificationNumber296
dcterms:identifier1200952NANDO:1200917
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/308-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/296-201704-kojin.pdf
rdfs:label - "Leukoencephalopathy, progressive, with ovarian failure" - @en
rdfs:label - "ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" + "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8702 + rdfs:label + "Type III biliary atresia" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02200http://nanbyodata.jp/ontology/NANDO_2201330
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157248.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5416https://www.nanbyou.or.jp/entry/4736
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200949
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014387http://nanbyodata.jp/ontology/NANDO_1200913
skos:prefLabel - "ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" + "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - + + - + + + + + + + + + - + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200953 +
http://nanbyodata.jp/ontology/NANDO_1200918 (rdf:type owl:Class @@ -73908,79 +86109,103 @@

hasNotificationNumber309hasNotificationNumber297
dcterms:description - "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…๏ผˆUnverricht-Lundborg็—…๏ผšULD๏ผ‰ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…๏ผˆLafora็—…๏ผ‰ๅŠใณ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆbenign adult familial myoclonus epilepsy๏ผšBAFME๏ผ‰ใฏใ€้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonus epilepsy๏ผšPME๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚PMEใฏใ€โ‘ ไธ้šๆ„้‹ๅ‹•ใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€โ‘กใฆใ‚“ใ‹ใ‚“็™บไฝœใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœๅŠใณๅ…จ่ˆฌๅผท็›ด้–“ไปฃ็™บไฝœใ€โ‘ขๅฐ่„ณ็—‡็Šถใ€โ‘ฃ่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ‚’๏ผ”ๅพดใจใ—ใฆ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ใชใฉใฎ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใ€MELASใ‚„MERRFใชใฉใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ€็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใชใฉใ‚‚ๅซใ‚€ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ“ใงใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใซ็™บ็—‡ใ—ใฆๆˆไบบไปฅ้™ใ‚‚็ฝน็—…ๆœŸ้–“ใŒ้•ทใ„PMEใฎไธญๆ ธ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…ใ€ใ•ใ‚‰ใซใ€่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใ‚’ๆ‰ฑใ†ใ€‚่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฏใ€ๆ—ฅๆœฌใงๅคšใ„้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใงใ€ๆˆไบบไปฅ้™ใซ็™บ็—‡ใ—ใฆใ€ๅฝ“ๅˆ็—‡็Šถใฏ่ปฝๅบฆใงใ‹ใค็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹ใŒใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ๅ‰่€…ใฎ็‰นๅพดใ‹ใ‚‰ใ€Œ่‰ฏๆ€งใ€ใฎๅ็งฐใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใฎ็ ”็ฉถใ‹ใ‚‰ใฏ้€ฒ่กŒๆ€งใงใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ—ๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆActivities of Daily Living๏ผšADL๏ผ‰ใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚" + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€ใ€Œ่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ๏ผ“็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€ใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๆ‚ฃ่€…ๆ•ฐใฏ200๏ฝž300ไบบ็จ‹ๅบฆใจๆŽจๆธฌใ•ใ‚ŒใŸใ€‚" @ja
dcterms:identifier1200953NANDO:1200918
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/297-201704-kojin.pdf
rdfs:label - "Progressive myoclonus epilepsy" + "Alagille syndrome" @en
rdfs:label - "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00810http://nanbyodata.jp/ontology/NANDO_2200931
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00551
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5425https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157117.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4844
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001http://nanbyodata.jp/ontology/NANDO_1100014
skos:altLabel - "PME" + "AGS" @en
+ skos:altLabel + "Alagille็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020074http://purl.obolibrary.org/obo/MONDO_0007318
skos:prefLabel - "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใฆใ‚“ใ‘ใ„ใ‚Œใ„" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200954 +
http://nanbyodata.jp/ontology/NANDO_1200919 (rdf:type owl:Class @@ -73988,77 +86213,72 @@

hasNotificationNumber309hasNotificationNumber297
dcterms:identifier1200954NANDO:1200919
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/309-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/297-201704-kojin.pdf
rdfs:label - "Unverricht-Lundborg disease" + "Typical Alagille syndrome" @en
rdfs:label - "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2684 + rdfs:label + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157117.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5425https://www.nanbyou.or.jp/entry/4844
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200953
- skos:altLabel - "ULD" - @enhttp://nanbyodata.jp/ontology/NANDO_1200918
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009698http://purl.obolibrary.org/obo/MONDO_0007318
skos:prefLabel - "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…" + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹" @ja
- - + - - + + - + - + - - - - + "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200955 +
http://nanbyodata.jp/ontology/NANDO_1200920 (rdf:type owl:Class @@ -74066,75 +86286,72 @@

hasNotificationNumber309hasNotificationNumber297
dcterms:identifier1200955NANDO:1200920
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/309-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/297-201704-kojin.pdf
rdfs:label - "Lafora disease" + "Atypical Alagille Syndrome" @en
rdfs:label - "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2683
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01994 + rdfs:label + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157117.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5425https://www.nanbyou.or.jp/entry/4844
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200953http://nanbyodata.jp/ontology/NANDO_1200918
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009697http://purl.obolibrary.org/obo/MONDO_0007318
skos:prefLabel - "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200956 +
http://nanbyodata.jp/ontology/NANDO_1200921 (rdf:type owl:Class @@ -74142,77 +86359,94 @@

hasNotificationNumber309hasNotificationNumber298
+ dcterms:description + "้บไผๆ€ง่†ต็‚Žใจใฏใ€้บไผใซใ‚ˆใ‚Šๆ…ขๆ€ง่†ต็‚ŽใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚้บไผๆ€ง่†ต็‚Žใฎๅฎš็พฉใจใ—ใฆGrossใฏใ€โ‘ ่ก€็ธ่€…ใซ๏ผ“ไบบไปฅไธŠใฎ่†ต็‚Ž็—‡ไพ‹ใ‚’่ชใ‚ใ€โ‘ก่‹ฅๅนด็™บ็—‡ใ€โ‘ขๅคง้‡้ฃฒ้…’ใชใฉๆ…ขๆ€ง่†ต็‚Žใฎๆˆๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒ่ชใ‚ใ‚‰ใ‚Œใšใ€โ‘ฃ๏ผ’ไธ–ไปฃไปฅไธŠใงๆ‚ฃ่€…ใŒ็™บ็”Ÿใ—ใฆใ„ใ‚‹ใ“ใจใ‚’ๆŒ™ใ’ใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๅฐ‘ๅญๅŒ–ใซไผดใ„ๆ˜Ž็ขบใชๅฎถๆ—ๆญดใ‚’ๅพ—ใ‚‹ใ“ใจใŒๅ›ฐ้›ฃใชใŸใ‚ใ€ๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง่†ต็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใฎ็ญ–ๅฎšใ—ใŸ่‡จๅบŠ่จบๆ–ญๅŸบๆบ–ใซๅŸบใฅใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier1200956NANDO:1200921
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/309-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/298-201704-kojin.pdf
rdfs:label - "benign adult familial myoclonus epilepsy" + "Hereditary pancreatitis" @en
rdfs:label - "่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + "ใ„ใงใ‚“ใ›ใ„ใ™ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง่†ต็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02213http://nanbyodata.jp/ontology/NANDO_2200942
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1171
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5425https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00933
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200953 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157134.docx
- skos:altLabel - "BAFME" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4781
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100013
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019448http://purl.obolibrary.org/obo/MONDO_0008185
skos:prefLabel - "่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + "้บไผๆ€ง่†ต็‚Ž" @ja
- - + - - + + - + + + + + + + + + - + - + + + + + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#1200957 +
http://nanbyodata.jp/ontology/NANDO_1200922 (rdf:type owl:Class @@ -74220,69 +86454,94 @@

hasNotificationNumber310hasNotificationNumber299
dcterms:description - "ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆmalformation๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซ่ค‡ๆ•ฐใฎๅ™จๅฎ˜็ณป็ตฑใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅ˜ไธ€้ƒจไฝใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹่งฃๅ‰–ๅญฆ็š„้ƒจไฝใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๆ•ฐๅใ‹ใ‚‰ๆ•ฐ็™พใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹็—‡็Šถใฏใ€ๅฝฑ้Ÿฟใ‚’ๅ—ใ‘ใ‚‹่‡“ๅ™จใซใ‚ˆใ‚‹ใ€‚ๅฟƒ่‚บๆฉŸ่ƒฝใƒปๆถˆๅŒ–็ฎกๆฉŸ่ƒฝใƒป้›ฃๆฒปๆ€ง็—™ๆ”ฃใชใฉใฎไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚ˆใ‚Š็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€้‹ๅ‹•ๅ™จใ‚„ๆ„Ÿ่ฆšๅ™จใฎ้€ฒ่กŒๆ€งใฎๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡๏ผˆ่†ตๅ›Š่ƒž็ทš็ถญ็—‡cystic fibrosis๏ผšCFใ€ใ‚ทใ‚นใƒ†ใ‚ฃใƒƒใ‚ฏใƒปใƒ•ใ‚กใ‚คใƒ–ใƒญใƒผใ‚ทใ‚น๏ผ‰ใฏใ€cystic fibrosis transmembrane conductance regulator๏ผˆCFTR๏ผ‰ใ‚’ๅŽŸๅ› ๅˆ†ๅญใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฐ—้“ๅ†…ๆถฒใ€่…ธ็ฎกๅ†…ๆถฒใ€่†ตๆถฒใชใฉๅ…จ่บซใฎๅˆ†ๆณŒๆถฒ๏ผ็ฒ˜ๆถฒใŒ่‘—ใ—ใ็ฒ˜็จ ใจใชใ‚Šใ€็ฎก่…”ใŒ้–‰ๅกžใ—ๆ„ŸๆŸ“ใ—ๆ˜“ใใชใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช็—‡ไพ‹ใงใฏใ€่ƒŽไพฟๆ€งใ‚คใƒฌใ‚ฆใ‚นใ‚’่ตทใ“ใ—ใ€่†ต่‡“ใŒ่Ž็ธฎใ—ใฆ่†ตๅค–ๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚’ๆฅใŸใ—ใ€ๅ‘ผๅธๅ™จๆ„ŸๆŸ“ใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ๆฑ—ไธญใฎๅกฉๅŒ–็‰ฉใ‚คใ‚ชใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใฏ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚Šใ€่จบๆ–ญใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1200957NANDO:1200922
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/299-201704-kojin.pdf
rdfs:label - "Congenital anomalies syndrome" + "Cystic fibrosis" @en
rdfs:label - "ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" + "ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docxhttp://nanbyodata.jp/ontology/NANDO_2200205
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5500http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2041
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00218
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157963.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4531
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_1100013
- skos:altLabel - "Malformative syndrome" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009061
skos:prefLabel - "ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" @ja
- - + - - + + + + + + - + - - + + + "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200958 +
http://nanbyodata.jp/ontology/NANDO_1200923 (rdf:type owl:Class @@ -74290,65 +86549,81 @@

hasNotificationNumber310hasNotificationNumber300
+ dcterms:description + "ๆœฌ้‚ฆใ‚ˆใ‚Š็™บไฟกใ•ใ‚ŒใŸๆ–ฐใ—ใ„ๆฆ‚ๅฟตใจใ—ใฆๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ็•ฐๅธธใ‚„่ก€ไธญIgG4้ซ˜ๅ€คใซๅŠ ใˆใ€ใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ่‘—ใ—ใ„ๆตธๆฝคใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚Šใ€ๅŒๆ™‚ๆ€งใ‚ใ‚‹ใ„ใฏ็•ฐๆ™‚ๆ€งใซๅ…จ่บซ่ซธ่‡“ๅ™จใฎ่…ซๅคงใ‚„็ต็ฏ€ใƒป่‚ฅๅŽšๆ€ง็—…ๅค‰ใชใฉใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฝนๆ‚ฃ่‡“ๅ™จใจใ—ใฆใฏ่†ต่‡“ใ€่ƒ†็ฎกใ€ๆถ™่…บใƒปๅ”พๆถฒ่…บใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็”ฒ็Šถ่…บใ€่‚บใ€่‚่‡“ใ€ๆถˆๅŒ–็ฎกใ€่…Ž่‡“ใ€ๅ‰็ซ‹่…บใ€ๅพŒ่…น่†œใ€ๅ‹•่„ˆใ€ใƒชใƒณใƒ‘็ฏ€ใ€็šฎ่†šใ€ไนณ่…บใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅค‰ใŒ่ค‡ๆ•ฐ่‡“ๅ™จใซๅŠใณๅ…จ่บซ็–พๆ‚ฃใจใ—ใฆใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅ˜ไธ€่‡“ๅ™จ็—…ๅค‰ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใ‚„ๆถ™่…บๅ”พๆถฒ่…บ็‚Ž๏ผˆใƒŸใ‚ฏใƒชใƒƒใƒ„็—…๏ผ‰ใชใฉใŒๅ…ธๅž‹็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏ่†ต็™Œใ‚„่ƒ†็ฎก็™Œใจ่ชค่จบใ•ใ‚Œใ€ๅค–็ง‘็š„ๆ‰‹่ก“ใ‚’ๅ—ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏๅ„่‡“ๅ™จ็—…ๅค‰ใซใ‚ˆใ‚Š็•ฐใชใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡“ๅ™จ่…ซๅคงใ€่‚ฅๅŽšใซใ‚ˆใ‚‹้–‰ๅกžใ€ๅœง่ฟซ็—‡็Šถใ‚„็ดฐ่ƒžๆตธๆฝคใ€็ทš็ถญๅŒ–ใซไผดใ†่‡“ๅ™จๆฉŸ่ƒฝไธๅ…จใชใฉๆ™‚ใซ้‡็ฏคใชๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใŒ็ฌฌไธ€้ธๆŠžใจใชใ‚‹ใŒใ€ๆธ›้‡ใ€ไธญๆ–ญใซใ‚ˆใฃใฆๅคšใใฎไพ‹ใงๅ†็™บใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier1200958NANDO:1200923
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-01-201704-kojin.pdf + rdfs:label + "IgG4-related disease" + @en
rdfs:label - "1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค" + "IgG4้–ข้€ฃ็–พๆ‚ฃ" @ja
rdfs:label - "Partial trisomy 1q" - @en
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5500https://www.nanbyou.or.jp/entry/4505
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200957http://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "IgG4-RD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016952http://purl.obolibrary.org/obo/MONDO_0017287
skos:prefLabel - "1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค" + "IgG4้–ข้€ฃ็–พๆ‚ฃ" @ja
- - + - - + + - + - + - - + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200959 +
http://nanbyodata.jp/ontology/NANDO_1200924 (rdf:type owl:Class @@ -74356,82 +86631,79 @@

hasNotificationNumber310hasNotificationNumber300
dcterms:identifier1200959NANDO:1200924
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-01-201704-kojin.pdf
rdfs:label - "9q34 deletion syndrome" + "IgG4-related disease" @en
rdfs:label - "9q34ๆฌ ๅคฑ็—‡ๅ€™็พค" + "IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6736 + rdfs:label + "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ใปใ†ใ‹ใค" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5500https://www.nanbyou.or.jp/entry/4505
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200957http://nanbyodata.jp/ontology/NANDO_1200923
skos:altLabel - "Kleefstra syndrome" + "IgG4-RD" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012455
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0027407http://purl.obolibrary.org/obo/MONDO_0017287
skos:prefLabel - "9q34ๆฌ ๅคฑ็—‡ๅ€™็พค" + "IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200960 +
http://nanbyodata.jp/ontology/NANDO_1200925 (rdf:type owl:Class @@ -74439,65 +86711,77 @@

hasNotificationNumber310hasNotificationNumber300
dcterms:identifier1200960NANDO:1200925
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-02-201704-kojin.pdf
rdfs:label - "Cornelia de lange syndrome" + "Autoimmune pancreatitis" @en
rdfs:label - "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docxhttp://nanbyodata.jp/ontology/NANDO_2200943
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5500https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4504
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200957http://nanbyodata.jp/ontology/NANDO_1200923
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016033http://purl.obolibrary.org/obo/MONDO_0015175
skos:prefLabel - "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" + "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" @ja
- - + - - + + - + - + - - - - + "ใณใพใ‚“ใŒใŸใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1200961 +
http://nanbyodata.jp/ontology/NANDO_1200926 (rdf:type owl:Class @@ -74505,75 +86789,72 @@

hasNotificationNumber310hasNotificationNumber300
dcterms:identifier1200961NANDO:1200926
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-04-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-02-201704-kojin.pdf
rdfs:label - "Smith-lemli-opitz syndrome" + "Diffuse-type autoimmune pancreatitis" @en
rdfs:label - "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3017
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00161 + rdfs:label + "ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5500https://www.nanbyou.or.jp/entry/4504
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200957http://nanbyodata.jp/ontology/NANDO_1200925
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010035http://purl.obolibrary.org/obo/MONDO_0015175
skos:prefLabel - "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" + "ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใ’ใ‚“ใใ‚‡ใใŒใŸใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“" + @ja-Hira - - + + - + - + - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200962 +
http://nanbyodata.jp/ontology/NANDO_1200927 (rdf:type owl:Class @@ -74581,96 +86862,72 @@

hasNotificationNumber311
- dcterms:description - "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆๅณๆˆฟใ‹ใ‚‰ๅณๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๆˆฟๆตๅ…ฅ่ก€ๆตใฎๅ…จใฆใ‚’ๅณๅฎคใธ้€š้Žใ•ใ›ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ๅฟƒๆˆฟ้–“ใงใฏๅณๅทฆ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ€ไฝŽ้…ธ็ด ่ก€็—‡ใจใชใ‚‹ใ€‚ๆ‰‹่ก“ใ‚’ๅซใ‚ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆŒ็ถšใ™ใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹ๅคš่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ€‚่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ€้ซ˜ๅบฆใชไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จใ‚’ไฝต็™บใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซๅฟƒใƒป่‚บใฎ็Šถๆ…‹ใŒ่จฑใ›ใฐใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ใฎๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ นๆฒป็š„ใชๆฒป็™‚ใงใฏใชใ้ ้š”ๆœŸใซๅพช็’ฐ็ ด็ถปใ‚’็”Ÿใ˜ๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber300
dcterms:identifier1200962NANDO:1200927
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/311-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-02-201704-kojin.pdf
rdfs:label - "Congenital tricuspid stenosis" + "Focal-type autoimmune pancreatitis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4313 + rdfs:label + "้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156566.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5395https://www.nanbyou.or.jp/entry/4504
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005
- skos:altLabel - "Congenital tricuspid atresia" - @en
- skos:altLabel - "Tricuspid atresia" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011514http://nanbyodata.jp/ontology/NANDO_1200925
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019813http://purl.obolibrary.org/obo/MONDO_0015175
skos:prefLabel - "ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" + "้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200963 +
http://nanbyodata.jp/ontology/NANDO_1200928 (rdf:type owl:Class @@ -74678,84 +86935,79 @@

hasNotificationNumber312
- dcterms:description - "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…ˆๅคฉ็š„ใชๅผ่ผชใฎไฝŽๅฝขๆˆใ€ๅผไธŠ็‹ญ็ช„่ผชใ€ๅผๅˆใฏๅผไธ‹็ต„็น”ใฎๆง‹้€ ็•ฐๅธธใชใฉใซ่ตทๅ› ใ™ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃ๏ผˆๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉ๏ผ‰ใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber300
dcterms:identifier1200963NANDO:1200928
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/312-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-03-201704-kojin.pdf
rdfs:label - "Congenital mitral stenosis" + "IgG4-related sclerosing cholangitis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡" + "IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" @ja
+ rdfs:label + "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156567.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5398https://www.nanbyou.or.jp/entry/4505
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1200923
skos:altLabel - "mitral stenosis" + "IgG4-SC" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005852
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020398http://purl.obolibrary.org/obo/MONDO_0018645
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡" + "IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200964 +
http://nanbyodata.jp/ontology/NANDO_1200929 (rdf:type owl:Class @@ -74763,67 +87015,79 @@

hasNotificationNumber313
- dcterms:description - "่‚บ้™่„ˆใŒๅ…ˆๅคฉๆ€งใซ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ้–‰้Ž–ใจใชใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ฑ้€š่‚บ้™่„ˆ่…”ใฎๅทฆๆˆฟใธใฎๅธๅŽ้Ž็จ‹ใซใŠใ‘ใ‚‹็•ฐๅธธใจใ•ใ‚Œใ€่‚บๅค–ใฎ่‚บ้™่„ˆใŒไธปใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ใใฎ็™บ็”Ÿ็•ฐๅธธใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็‰‡ๅดใฎใฟใฎ่‚บ้™่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใฏๅทฆๅดใงใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ“ๆœฌไปฅไธŠ็‹ญ็ช„ใŒใ‚ใ‚Œใฐใ€่‚บ้ซ˜่ก€ๅœงใ€ๅณๅฟƒไธๅ…จใ‚’ๅˆไฝตใ—ใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚" - @jahasNotificationNumber300
dcterms:identifier1200964NANDO:1200929
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/313-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-04-201704-kojin.pdf
rdfs:label - "Congenital pulmonary vein stenosis" + "IgG4-related dacryoadenitis and sialadenitis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡" + "IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰" @ja
+ rdfs:label + "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ‚‹ใ„ใ›ใ‚“ใƒปใŒใ‚“ใ‹ใŠใ‚ˆใณใ ใˆใใ›ใ‚“ใณใ‚‡ใ†ใธใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156568.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5401https://www.nanbyou.or.jp/entry/4505
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1200923
+ skos:altLabel + "IgG4-DS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019191
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡" + "IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#1200965 +
http://nanbyodata.jp/ontology/NANDO_1200930 (rdf:type owl:Class @@ -74831,81 +87095,79 @@

hasNotificationNumber314
- dcterms:description - "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นๅŠใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจๅŠใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใฏใ€ๆˆไบบๆœŸใซใฏ่‚บๆฐ—่…ซใ€็„กๆฐ—่‚บใชใฉใซใ‚ˆใฃใฆๆ…ขๆ€งๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚" - @jahasNotificationNumber300
dcterms:identifier1200965NANDO:1200930
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/314-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/300-05-201704-kojin.pdf
rdfs:label - "Vascular sling" + "IgG4-related kidney disease" @en
rdfs:label - "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "IgG4้–ข้€ฃ่…Ž่‡“็—…" @ja
+ rdfs:label + "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใžใ†ใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156569.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157821.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5404https://www.nanbyou.or.jp/entry/4505
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100005http://nanbyodata.jp/ontology/NANDO_1200923
skos:altLabel - "PA sling" + "IgG4-RKD" @en
- skos:altLabel - "Pulmonary artery sling" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018671
skos:prefLabel - "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "IgG4้–ข้€ฃ่…Ž่‡“็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200966 +
http://nanbyodata.jp/ontology/NANDO_1200931 (rdf:type owl:Class @@ -74913,67 +87175,84 @@

hasNotificationNumber315hasNotificationNumber301
dcterms:description - "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผLMX1B้–ข้€ฃ่…Ž็—‡ใฏใ€็ˆชๅฝขๆˆไธๅ…จใ€่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆใ€่…ธ้ชจใฎ่ง’็Šถ็ช่ตท๏ผˆiliac horn๏ผ‰ใ€่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’๏ผ”ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—ใ€ไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ๅŽŸๅ› ใฏLMX1B้บไผๅญๅค‰็•ฐใงใ‚ใ‚‹ใ€‚็ˆชใ€่†่“‹้ชจใ€่…ธ้ชจใชใฉใฎๅค‰ๅŒ–ใ‚’ไผดใ‚ใšใ€่…Ž็—‡ใ ใ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พคๆง˜่…Ž็—‡๏ผˆnail-patella-like renal disease๏ผšNPLRD๏ผ‰ใ‚„ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ๆ‚ฃ่€…ใซใ‚‚ใ€LMX1B้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใฏLMX1B้–ข้€ฃ่…Ž็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" + "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆmacular dystrophy๏ผ‰ใฏ็œผๅบ•ใฎ้ป„ๆ–‘้ƒจใซไธก็œผๆ€งใ€้€ฒ่กŒๆ€งใฎ็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆdystrophy๏ผ‰ใจใฏใ€้ž็‚Ž็—‡ๆ€งใ€้€ฒ่กŒๆ€งใฎๆ „้คŠไธŠใ‚ใ‚‹ใ„ใฏไปฃ่ฌไธŠใฎ็•ฐๅธธใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏใ€ไฝ•ใ‚‰ใ‹ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ้ป„ๆ–‘้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ่จบๆ–ญใซใฏใ€๏ผˆ๏ผ‘๏ผ‰ๅŸบๆœฌ็š„ใซไธก็œผๆ€งใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ’๏ผ‰ๅฎถๆ—ๆ€งใ€้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ“๏ผ‰ใชใ‚“ใ‚‰ๅค–ๅ› ใŒๅŠ ใ‚ใ‚‹ใ“ใจใชใ—ใซ็™บ็”Ÿใ™ใ‚‹ใ€‚๏ผˆ๏ผ”๏ผ‰ไป–่ฆš็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€่‡ช่ฆš็š„ๆฉŸ่ƒฝๆคœๆŸปๆ‰€่ฆ‹ใ€ใ„ใšใ‚Œใ‹ใ‚‰ใฟใฆใ‚‚ๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ๏ผ”ใคใฎ้ …็›ฎใ‚’ๆบ€ใŸใ™๏ผˆๅŽš็”Ÿ็œ็‰นๆ€ง็–พๆ‚ฃ็ถฒ่†œ่„ˆ็ตก่†œ่Ž็ธฎ็—‡่ชฟๆŸป็ ”็ฉถ็ญใ€€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ่จบๆ–ญใฎๆ‰‹ๅผ•ใใ‚’ๅ‚็…ง๏ผ‰ใ€‚ใชใŠ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็‹ญ็พฉใซใฏ็—…ๅค‰ใŒ้ป„ๆ–‘้ƒจใซ้™ๅฑ€ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใŒใ€ๅคšใใฎ็—…ๅž‹ใซใŠใ„ใฆ็—…ๅค‰ใฏ้ป„ๆ–‘้ƒจใ‹ใ‚‰ๅพŒๆฅต้ƒจใซๅบƒใŒใ‚Šใ€ใจใใซๅ‘จ่พบ้ƒจ็ถฒ่†œใพใงๅŠใถใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200966NANDO:1200931
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/315-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "nail-patella syndrome/LMX1B-Associated Nephropathy" + "Macular dystrophy" @en
rdfs:label - "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" + "ใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156570.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01770
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5470https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100007http://nanbyodata.jp/ontology/NANDO_1100011
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020242
skos:prefLabel - "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" + "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200967 +
http://nanbyodata.jp/ontology/NANDO_1200932 (rdf:type owl:Class @@ -74981,77 +87260,91 @@

hasNotificationNumber315hasNotificationNumber301
dcterms:identifier1200967NANDO:1200932
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/315-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "nail-patella syndrome" + "Vitelliform macular dystrophy" @en
rdfs:label - "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" + "ใ‚‰ใ‚“ใŠใ†ใ‚ˆใ†ใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1051https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00814
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156570.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5470https://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200966http://nanbyodata.jp/ontology/NANDO_1200931
skos:altLabel - "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค" + "Best vitelliform macular dystrophy" + @en
+ skos:altLabel + "ใƒ™ใ‚นใƒˆ็—…" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008061http://purl.obolibrary.org/obo/MONDO_0000390
skos:prefLabel - "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" + "ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200968 +
http://nanbyodata.jp/ontology/NANDO_1200933 (rdf:type owl:Class @@ -75059,60 +87352,72 @@

hasNotificationNumber315hasNotificationNumber301
dcterms:identifier1200968NANDO:1200933
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/315-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "LMX1B-Associated Nephropathy" + "Stargardt disease" @en
rdfs:label - "๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" + "Stargardt็—…" @ja
+ rdfs:label + "ใ™ใŸใƒผใŒใ‚‹ใฉใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156570.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5470https://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200966http://nanbyodata.jp/ontology/NANDO_1200931
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019353
skos:prefLabel - "๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" + "Stargardt็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200969 +
http://nanbyodata.jp/ontology/NANDO_1200934 (rdf:type owl:Class @@ -75120,67 +87425,82 @@

hasNotificationNumber316
- dcterms:description - "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ตใ‚คใ‚ฏใƒซใ‚’ๆง‹ๆˆใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ‘๏ผˆCPT1๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ’๏ผˆCPT2๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผ๏ผˆCACT๏ผ‰ๅŠใณใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซ่ผธ้€ใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆOCTN-2๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใชใใชใ‚Šใ€ใใฎ็ตๆžœใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚่‡จๅบŠ็—…ๅž‹ใจใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber301
dcterms:identifier1200969NANDO:1200934
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "carnitine cycle disorders" + "Occult macular dystrophy" @en
rdfs:label - "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡" + "ใŠใ‹ใ‚‹ใจใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7560
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01010
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200931
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013316
skos:prefLabel - "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡" + "ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + "Cone-rod dystrophy and cone dystrophy" + @en + "ใ™ใ„ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผใ€ใŠใ‚ˆใณใ™ใ„ใŸใ„ใ‹ใ‚“ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira + + + + - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#1200970 +
http://nanbyodata.jp/ontology/NANDO_1200935 (rdf:type owl:Class @@ -75188,77 +87508,72 @@

hasNotificationNumber316hasNotificationNumber301
dcterms:identifier1200970NANDO:1200935
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "CPT1ๆฌ ๆ็—‡" - @ja
rdfs:label - "Carnitine Palmitoyltransferase I deficiency" - @en
+ rdfs:label + "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2691https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00481
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428https://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200969
- skos:altLabel - "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009705http://nanbyodata.jp/ontology/NANDO_1200931
skos:prefLabel - "CPT1ๆฌ ๆ็—‡" + "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + "Cone dystrophy" + @en + "ใ™ใ„ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira + + + + - + - + - + + "COD" + @en - +
http://nanbyodata.jp/ontology/nando#1200971 +
http://nanbyodata.jp/ontology/NANDO_1200936 (rdf:type owl:Class @@ -75266,72 +87581,79 @@

hasNotificationNumber316hasNotificationNumber301
dcterms:identifier1200971NANDO:1200936
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "CPT2ๆฌ ๆ็—‡" - @ja
rdfs:label - "Carnitine Palmitoyltransferase II deficiency" - @en
+ rdfs:label + "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428https://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200969http://nanbyodata.jp/ontology/NANDO_1200935
skos:altLabel - "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015515http://purl.obolibrary.org/obo/MONDO_0000455
skos:prefLabel - "CPT2ๆฌ ๆ็—‡" + "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + "Cone-rod dystrophy" + @en + "ใ™ใ„ใŸใ„ใ‹ใ‚“ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200972 +
http://nanbyodata.jp/ontology/NANDO_1200937 (rdf:type owl:Class @@ -75339,70 +87661,79 @@

hasNotificationNumber316hasNotificationNumber301
dcterms:identifier1200972NANDO:1200937
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "CACTๆฌ ๆ็—‡" - @ja
rdfs:label - "Carnitine-acylcarnitine translocase deficiency" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1891 + rdfs:label + "้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428https://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200969http://nanbyodata.jp/ontology/NANDO_1200935
+ skos:altLabel + "CORD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008918http://purl.obolibrary.org/obo/MONDO_0015993
skos:prefLabel - "CACTๆฌ ๆ็—‡" + "้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ‚‚ใ†ใพใใถใ‚“ใ‚Šใ—ใ‚‡ใ†" + @ja-Hira - + - + - + - - - - - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200973 +
http://nanbyodata.jp/ontology/NANDO_1200938 (rdf:type owl:Class @@ -75410,98 +87741,84 @@

hasNotificationNumber316hasNotificationNumber301
dcterms:identifier1200973NANDO:1200938
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "OCTN-2็•ฐๅธธ็—‡" + "X-linked juvenile retinoschisis" + @en
+ rdfs:label + "X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡" @ja
rdfs:label - "Systemic primary carnitine deficiency" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1892http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3557
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428https://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200969
- skos:altLabel - "CDSP" - @en
- skos:altLabel - "Carnitine deficiency, systemic primary" - @enhttp://nanbyodata.jp/ontology/NANDO_1200931
skos:altLabel - "Carnitine uptakeย defect" - @en
- skos:altLabel - "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡" + "XๆŸ“่‰ฒไฝ“่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008919http://purl.obolibrary.org/obo/MONDO_0010725
skos:prefLabel - "OCTN-2็•ฐๅธธ็—‡" + "X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - + - - + + - +
http://nanbyodata.jp/ontology/nando#1200974 +
http://nanbyodata.jp/ontology/NANDO_1200939 (rdf:type owl:Class @@ -75509,91 +87826,82 @@

hasNotificationNumber317
- dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎฮฒ-้…ธๅŒ–็ณปใฎใ†ใกใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซ็ตๅˆใ—ใŸ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ๅ›ž่ทฏใ‚’ๅฝขๆˆใ™ใ‚‹๏ผ’้…ต็ด ใฎ๏ผ‘ใคใงใ€้•ท้Ž–่„‚่‚ช้…ธฮฒ้…ธๅŒ–ๅ›ž่ทฏใฎ็ฌฌ๏ผ’ใฎ้…ต็ด ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆenoyl-CoA hydratase๏ผšLCEH๏ผ‰ใ€็ฌฌ๏ผ“ใฎ 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆ3-hydroxyacyl-CoA dehydrogenase๏ผšLCHAD๏ผ‰ใ€็ฌฌ๏ผ”ใฎ3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆ3-ketoacyl-CoA thiolase๏ผšLCKT๏ผ‰ใฎ๏ผ“ใคใฎๆฉŸ่ƒฝใ‚’ๆŒใฃใŸไธ‰้ ญ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใงใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ๅนผๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ—้ชจๆ ผ็ญ‹็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง่จบๆ–ญใ•ใ‚ŒใŸใ€ๅˆใฏๅฎถๆ—ๆคœ็ดขใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็„ก็—‡็Šถใฎ็—‡ไพ‹ใฏใฉใฎ็—…ๅž‹ใ‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใพใงใ€็™บ็—‡ๅ‰ๅž‹ใจๆšซๅฎš็š„ใซๅˆ†้กžใ™ใ‚‹ใ€‚" - @jahasNotificationNumber301
dcterms:identifier1200974NANDO:1200939
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/301-201704-kojin.pdf
rdfs:label - "Trifunctional protein deficiency" + "Central areolar choroidal dystrophy" @en
rdfs:label - "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ใกใ‚…ใ†ใ—ใ‚“ใ›ใ„ใ‚Šใ‚“ใ‚‚ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚‰ใใพใใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6449https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01768
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157150.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431https://www.nanbyou.or.jp/entry/4798
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:altLabel - "Mitochondrialย Trifunctional protein deficiency" - @enhttp://nanbyodata.jp/ontology/NANDO_1200931
- skos:altLabel - "TFP" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004890
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012172http://purl.obolibrary.org/obo/MONDO_0008982
skos:prefLabel - "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200975 +
http://nanbyodata.jp/ontology/NANDO_1200940 (rdf:type owl:Class @@ -75601,60 +87909,96 @@

hasNotificationNumber317hasNotificationNumber302
+ dcterms:description + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้บไผๅญๅค‰็•ฐใŒๆฏ็ณป้บไผๅฝขๅผใ‚’่ฆๅฎšใ—ใ€ไป–ใฎ้บไผๅ› ๅญใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚คใƒƒใ‚ฏไฟฎ้ฃพใ€็’ฐๅขƒๅ› ๅญใŒ็™บ็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนด็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๆฏ็ณป้บไผใฎใŸใ‚ใ€็ฝนๆ‚ฃ็”ทๆ€งใฎๅญๅญซใซใฏๆ‚ฃ่€…ใฏ็พใ‚Œใšใ€็„กๅ…†ๅ€™ๅฅณๆ€งไฟๅ› ่€…ใฎๅญๅญซใซๆ‚ฃ่€…ใŒ็พใ‚Œใ‚‹ใ€‚ไธ€็œผใฎ่ฆ–ๅŠ›ไฝŽไธ‹ใ€ไธญๅฟƒๆš—็‚นใงๅง‹ใพใ‚Šใ€ไธๅฎšๆœŸ้–“ใ‚’ใŠใ„ใฆๅๅฏพ็œผใ‚‚ๅŒๆง˜ใฎ็—‡็Šถใ‚’็คบใ™ใ€‚็ถฒ่†œ็ฅž็ตŒ็ฏ€็ดฐ่ƒžใŒๅค‰ๆ€ง่„ฑ่ฝใ—ใ€ๆ•ฐใ‹ๆœˆใฎใ†ใกใซใ€ไธก็œผใฎ้ซ˜ๅบฆ่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ„ใŸใ‚‹๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›0.1ไปฅไธ‹๏ผ‰ใ€‚" + @ja
dcterms:identifier1200975NANDO:1200940
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/302-201704-kojin.pdf
rdfs:label - "Trifunctional protein deficiency,lethal type" + "Leber hereditary optic neuropathy" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚Œใƒผในใ‚‹ใ„ใงใ‚“ใ›ใ„ใ—ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docxhttp://nanbyodata.jp/ontology/NANDO_1200178
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3604
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157965.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4660
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200974http://nanbyodata.jp/ontology/NANDO_1100011
+ skos:altLabel + "ใƒฌใƒผใƒ™ใƒซ็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010788
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200976 +
http://nanbyodata.jp/ontology/NANDO_1200941 (rdf:type owl:Class @@ -75662,60 +88006,84 @@

hasNotificationNumber317hasNotificationNumber303
+ dcterms:description + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ๏ผˆUsher๏ผ‰็—‡ๅ€™็พคใฏใ€้›ฃ่ดใซ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ‚’ไผดใ†็—‡ๅ€™็พคๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ฃ่ดใฎ็จ‹ๅบฆใฏไธญ็ญ‰ๅบฆ๏ฝž้‡ๅบฆ้›ฃ่ดใพใงใจๅน…ๅบƒใใ€ๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใ‚’ๅ ใ‚ใ‚‹ใ€‚ใพใŸ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€งใฏ้…็™บๆ€งใซ็™บ็—‡ใ—ใ€ๅพใ€…ใซ่ฆ–้‡Ž็‹ญ็ช„ใŒ้€ฒ่กŒใ—ใฆ็คพไผš็š„ๅคฑๆ˜Žใจใชใ‚‹ไพ‹ใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier1200976NANDO:1200941
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdf
rdfs:label - "Trifunctional protein deficiency,intermediate type" + "Usher syndrome" @en
rdfs:label - "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00779
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4624
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200974http://nanbyodata.jp/ontology/NANDO_1100011
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019501
skos:prefLabel - "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + - - - - - - - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#1200977 +
http://nanbyodata.jp/ontology/NANDO_1200942 (rdf:type owl:Class @@ -75723,143 +88091,77 @@

hasNotificationNumber317hasNotificationNumber303
dcterms:identifier1200977NANDO:1200942
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdf
rdfs:label - "Trifunctional protein deficiency,myopathic type" + "Usher Syndrome Type I" @en
rdfs:label - "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docx
- rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200974
- skos:prefLabel - "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" - @ja
- - - - - - - - - - - - - - - - - - - - - - + "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“1ใŒใŸ" + @ja-Hira - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200978 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber318
- dcterms:description - "ใ‚ทใƒˆใƒชใƒณใฏใ€่‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใƒปใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚Šใ€ใƒชใƒณใ‚ด้…ธใƒปใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‚ทใƒฃใƒˆใƒซใฎไธ€ๅ“กใจใ—ใฆใ€็ดฐ่ƒž่ณชใง็”Ÿใ˜ใŸNADHใฎ้‚„ๅ…ƒใ‚จใƒใƒซใ‚ฎใƒผใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธ่ผธ้€ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซNADHใ‚’็”ฃ็”Ÿใ™ใ‚‹ๅๅฟœใซ้–ขไธŽใ™ใ‚‹ใ€‚ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใงใฏๅนด้ฝขไพๅญ˜็š„ใซ๏ผ’ใคใฎ็—…ๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ใฎ็—…ๅž‹ใงใ‚ใ‚‹NICCD๏ผˆneonatal intrahepatic cholestasis caused by citrin deficiency๏ผ‰ๅŠใณๆˆไบบๆœŸใฎๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆCTLN2๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆฑใ‚ขใ‚ธใ‚ขใ‹ใ‚‰ๆฑๅ—ใ‚ขใ‚ธใ‚ขใง้ ปๅบฆใŒ้ซ˜ใใ€ๅฐ‘ๆ•ฐใชใŒใ‚‰ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฎไฟๅ› ่€…้ ปๅบฆใฏ1/65ใงใ‚ใ‚Šใ€็†่ซ–ไธŠใฎๆœ‰็—…็Ž‡ใฏ1/17,000ใจใชใ‚‹ใ€‚CTLN2ใฎ็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใฎ็ด„20๏ผ…ใฎๆ‚ฃ่€…ใŒCTLN2ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใจใชใ‚‹ใ€‚" - @ja
- dcterms:identifier1200978
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdf
- rdfs:label - "Citrin deficiency" - @en
rdfs:label - "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4144http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3155
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5434https://www.nanbyou.or.jp/entry/4624
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011326http://nanbyodata.jp/ontology/NANDO_1200941
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016602http://purl.obolibrary.org/obo/MONDO_0010168
skos:prefLabel - "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹" @ja
- - + - - + + - + - + + "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200979 +
http://nanbyodata.jp/ontology/NANDO_1200943 (rdf:type owl:Class @@ -75867,77 +88169,72 @@

hasNotificationNumber318hasNotificationNumber303
dcterms:identifier1200979NANDO:1200943
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdf
rdfs:label - "neonatal intrahepatic cholestasis caused by citrin deficiency" + "Usher Syndrome Type II" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4390 + rdfs:label + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5434https://www.nanbyou.or.jp/entry/4624
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200978
- skos:altLabel - "NICCD" - @enhttp://nanbyodata.jp/ontology/NANDO_1200941
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011601http://purl.obolibrary.org/obo/MONDO_0016484
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹" @ja
- - + - - + + - + - + + "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“3ใŒใŸ" + @ja-Hira - - + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200980 +
http://nanbyodata.jp/ontology/NANDO_1200944 (rdf:type owl:Class @@ -75945,82 +88242,72 @@

hasNotificationNumber318hasNotificationNumber303
dcterms:identifier1200980NANDO:1200944
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/303-201704-kojin.pdf
rdfs:label - "adult-onset type II citrullinemia" + "Usher Syndrome Type III" @en
rdfs:label - "ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4144 + rdfs:label + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157114.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5434https://www.nanbyou.or.jp/entry/4624
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200978
- skos:altLabel - "CTLN2" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011326http://nanbyodata.jp/ontology/NANDO_1200941
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016603http://purl.obolibrary.org/obo/MONDO_0016485
skos:prefLabel - "ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200981 +
http://nanbyodata.jp/ontology/NANDO_1200945 (rdf:type owl:Class @@ -76028,67 +88315,86 @@

hasNotificationNumber318hasNotificationNumber304
+ dcterms:description + "่‹ฅๅนด๏ผˆ40ๆญณๆœชๆบ€๏ผ‰ใง็™บ็—‡ใ™ใ‚‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ‚’ใ•ใ™ใ€‚ๅพ“ๆฅใ‹ใ‚‰ๅŽŸๅ› ไธๆ˜Žใฎๆ„Ÿ้Ÿณ้›ฃ่ดใฎใ†ใกใ€ไธกๅดๆ€งใซ้›ฃ่ดใŒ้€ฒ่กŒใ™ใ‚‹็–พๆ‚ฃใ‚’ใ€Œ็‰น็™บๆ€งไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ€ใจใ—ใฆใใŸใŒใ€่€ไบบๆ€ง้›ฃ่ดใจใฎ้‘‘ๅˆฅใŒๅฟ…ใšใ—ใ‚‚ๅฎนๆ˜“ใงใฏใชใ‹ใฃใŸใ€‚ใใ“ใงๆญฃ็ขบใซ้‘‘ๅˆฅ่จบๆ–ญใŒ่กŒใˆใ‚‹ใ‚ˆใ†ๅนด้ฝข่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ้…็™บๆ€ง้›ฃ่ดใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ€ๆ—ข็Ÿฅใฎๅค–็š„ๅ› ๅญใ€ไพ‹ใˆใฐ้จ’้Ÿณใ€ๅค–ๅ‚ทใ€่–ฌๅ‰คใ€ๆ€ฅๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏ้™คใใจใ„ใ†้™คๅค–่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚่ฟ‘ๅนดใ€้บไผๅญใจใฎ้–ข้€ฃใŒๅฐ‘ใ—ใšใคๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใใฆใ„ใ‚‹ใŒ็—…ๆ…‹่งฃๆ˜Žใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ๅพŒๅคฉ็š„ใซ็™บ็—‡ใ€้€ฒ่กŒใ—ไธกๅด้‡ๅบฆ้›ฃ่ดใƒปใ‚ใ†ใจใชใ‚‹ไพ‹ใชใฉๆง˜ใ€…ใช็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ่จ€่ชž็™บ้”ใ‚„ๆ•™่‚ฒใฎใปใ‹็คพไผš็”Ÿๆดปใ‚„ๆ—ฅๅธธ็”Ÿๆดปใซๅคงใใชๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ใพใŸๆฒป็™‚ๆณ•ใŒๆœช็ขบ็ซ‹ใงใ‚ใ‚Š้•ทๆœŸ็š„ใช็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใฎ่งฃๆ˜Žใ‚„ๆฒป็™‚ๆณ•ใฎ้–‹็™บใฏ้‡่ฆใช่ชฒ้กŒใงใ‚ใ‚‹ใ€‚่จบๆ–ญๅŸบๆบ–ใซใ‚‚ใจใฅใ„ใŸๆ‚ฃ่€…ๆ•ฐใฏๅคšใใชใ„ใ€‚" + @ja
dcterms:identifier1200981NANDO:1200945
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/304-201704-kojin.pdf
rdfs:label - "Failure to thrive and dyslipidemia caused by citrin deficiency" + "Juvenile Bilateral Sensorineural Hearing Loss" @en
rdfs:label - "้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + "ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚Šใ‚‡ใ†ใใใ›ใ„ใ‹ใ‚“ใŠใ‚“ใชใ‚“ใกใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01705
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5434https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157962.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4627
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200978http://nanbyodata.jp/ontology/NANDO_1100015
skos:altLabel - "FTTDCD" + "Juvenile-onset bilateral sensorineural hearing loss" @en
skos:prefLabel - "้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + "่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1200982 +
http://nanbyodata.jp/ontology/NANDO_1200946 (rdf:type owl:Class @@ -76096,91 +88402,84 @@

hasNotificationNumber319hasNotificationNumber305
dcterms:description - "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใฏ๏ผ“็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธๆฐด้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎ็”Ÿๅˆๆˆใซ้–ขใ‚ใ‚‹SRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€BH4ใฎๆฌ ไนใ‚’ๆฅใ™้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ใ€‚่‚่‡“ใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใงBH4ใŒๅˆๆˆใ•ใ‚Œใ‚‹ใŸใ‚ใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใฏๆฅใ•ใชใ„ใŒใ€่„ณใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใŒๅผฑใๅฟ…่ฆใชBH4ใฏๅˆๆˆใ•ใ‚Œใชใ„ใŸใ‚ใ€ใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณๅŠใณใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€BH4ๆฌ ๆ็—‡ใจๅŒๆง˜ใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใŒใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใ‚’ๆฅใ•ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€่จบๆ–ญใจๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ‚ฃ่€…ๆ•ฐใฏใ€ๆœฌ้‚ฆใงใฏ2014ๅนดใซ็ฌฌ๏ผ‘ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใซ้ŽใŽใšใ€ไธ–็•Œใงใ‚‚50ไพ‹็จ‹ๅบฆใฎๆฅตใ‚ใฆใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใจใฏใ€้™ณๆ—งๆ€ง้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใฎ้…็™บๆ€ง็ถš็™บ็—‡ใจใ—ใฆๅ†…่€ณใซๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใŒ็”Ÿใ˜ใ€ใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ๅ†…่€ณๆ€งใ‚ใพใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡่€ณๅˆใฏไธก่€ณใฎ้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใŒๅ…ˆ่กŒใ—ใ€ๆ•ฐๅนดใ‹ใ‚‰ๆ•ฐๅๅนดใฎๅพŒใซใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ใŒใ€้›ฃ่ดใฏๅค‰ๅ‹•ใ—ใชใ„ใ€‚" @ja
dcterms:identifier1200982NANDO:1200946
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/319-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/305-201704-kojin.pdf
rdfs:label - "Sepiapterin reductase deficiency" + "Delayed endolymphatic hydrops" @en
rdfs:label - "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + "ใกใฏใคใ›ใ„ใชใ„ใ‚Šใ‚“ใฑใ™ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7217https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01706
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156574.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157249.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5437https://www.nanbyou.or.jp/entry/148
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002
- skos:altLabel - "SRD" - @en
- skos:altLabel - "๏ผณ๏ผฒๆฌ ๆ็—‡" - @jahttp://nanbyodata.jp/ontology/NANDO_1100015
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012994http://purl.obolibrary.org/obo/MONDO_0006744
skos:prefLabel - "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ" @ja
- - + - - + + - + - + + + + + - + - - - - - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#1200983 +
http://nanbyodata.jp/ontology/NANDO_1200947 (rdf:type owl:Class @@ -76188,81 +88487,79 @@

hasNotificationNumber320hasNotificationNumber306
dcterms:description - "็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚GPIใŒๆฌ ๆใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ใฎๅ…จใฆใฎ่›‹็™ฝ่ณชใŒ็ดฐ่ƒž่กจ้ขใซ็™บ็พใงใใชใ„ใ€‚็พๅœจใพใงใซ27ๅ€‹ใฎ้บไผๅญใŒGPIใ‚ขใƒณใ‚ซใƒผๅž‹่›‹็™ฝ่ณชใฎ็”Ÿๅˆๆˆใ‚„ใ€ไฟฎ้ฃพใซๅฟ…่ฆใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡๏ผˆInherited GPI deficienc๏ฝ™๏ผšIGD๏ผ‰ใŒๆฌกใ€…ใจ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€็พๅœจใพใงใซ15็จฎ้กžใฎ้บไผๅญใซใ‚ˆใ‚‹IGDใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ไธกๅดใฎๅคš็™บๆ€ง้ผป่Œธใจ็ฒ˜่ชฟใช้ผปๆฑใซใ‚ˆใ‚Šใ€้ซ˜ๅบฆใฎ้ผป้–‰ใจๅ—…่ฆš้šœๅฎณใ‚’็คบใ™ใ€ๆˆไบบ็™บ็—‡ใฎ้›ฃๆฒปๆ€งๅ‰ฏ้ผป่…”็‚Žใงใ‚ใ‚‹ใ€‚ๆŠ—่Œ่–ฌใฏ็„กๅŠนใงใ‚ใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๅ†…ๆœใซใฎใฟๅๅฟœใ™ใ‚‹ใ€‚้ผป่…”ๅ†…ใซ้ผป่ŒธใŒๅ……ๆบ€ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€้ผปๅ‰ฏ้ผป่…”ๆ‰‹่ก“ใง้ผป่Œธใฎๆ‘˜ๅ‡บใ‚’่กŒใ†ใŒใ€ใ™ใใซๅ†็™บใ™ใ‚‹ใ€‚้ผป้–‰ใจๅ—…ไธŠ็šฎใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ—…่ฆšใฏๆถˆๅคฑใ™ใ‚‹ใ€‚ๅ—…่ฆš้šœๅฎณใฎใŸใ‚้ขจๅ‘ณ้šœๅฎณใ‚’ๅซใ‚ใŸๅ‘ณ่ฆš้šœๅฎณใ‚’ๆฅใ™ใ€‚ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใ‚นใƒ”ใƒชใƒณๅ–˜ๆฏ๏ผˆใ‚ขใ‚นใƒ”ใƒชใƒณไธ่€็—‡๏ผ‰ใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚้ผป้–‰ใฎใŸใ‚ใฎๅฃๅ‘ผๅธใŒๅ–˜ๆฏ็™บไฝœใ‚’่ช˜็™บใ—ใ€่‘—ใ—ใ„ๅ‘ผๅธ้šœๅฎณใ‚’่ตทใ“ใ™ใ€‚ใพใŸไธญ่€ณ็‚Žใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅฅฝ้…ธ็ƒๆ€งไธญ่€ณ็‚Žใจๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎไธญ่€ณ็‚Žใฏใ€้›ฃๆฒปๆ€งใง่ดๅŠ›้šœๅฎณใฏ้€ฒ่กŒใ—ใ€่พใซ่‡ณใ‚‹ใ€‚้ผป็ฒ˜่†œใซใฏๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŒใ€ไธญ่€ณ็‚Žใ‚’ไผดใ†ใจ่€ณๆผใซใ‚‚ๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใฏใ€ๆœฌ็–พๆ‚ฃใŒ่‰ฏๆ€ง็–พๆ‚ฃใฎใŸใ‚ใ€ไธปๆฒปๅŒปใฏ็ถ™็ถšไฝฟ็”จใซใŸใ‚ใ‚‰ใ„ใ‚’ๆ„Ÿใ˜ใ€ๆ•ฐใ‹ๆœˆใงๆŠ•ไธŽใ‚’ไธญๆญขใ™ใ‚‹ใจๅข—ๆ‚ชใ‚’ใ™ใ‚‹ใ€‚ไธŠๆฐ—้“ๆ„ŸๆŸ“ใซใ‚ˆใฃใฆใ‚‚็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹ใŸใ‚ๅ†ๅบฆ็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใ‚’ๆŠ•ไธŽใ›ใ–ใ‚‹ใ‚’ๅพ—ใชใ„็Šถๆณใจใชใ‚‹ใ€‚" @ja
dcterms:identifier1200983NANDO:1200947
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/320-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/306-201704-kojin.pdf
rdfs:label - "Inherited GPI deficiency" + "Eosinophilic sinusitis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใตใใณใใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156575.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01765
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5410
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100001https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157188.docx
- skos:altLabel - "GPIๆฌ ๆ็—‡" - @ja + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4537
- skos:altLabel - "IGD" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100004
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + "ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#1200984 +
http://nanbyodata.jp/ontology/NANDO_1200948 (rdf:type owl:Class @@ -76270,89 +88567,99 @@

hasNotificationNumber321hasNotificationNumber307
dcterms:description - "ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใงใ‚ใ‚‹ใ‚ฐใƒชใ‚ทใƒณใ‚’ๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ—ใฆใ„ใ‚‹ใŸใ‚ใซไฝ“ๅ†…ใซใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒๆ•ฐๆ—ฅใงๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€ใชใฉ่„ณ็—‡ๆง˜ใฎ็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไธญๆžข็ฅž็ตŒ็ณปใฎ้šœๅฎณใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคง้ƒจๅˆ†ใ‚’ๅ ใ‚ใ€่‚่‡“ใ‚„่…Ž่‡“ใชใฉใฎไป–ใฎ่‡“ๅ™จ้šœๅฎณใฏๅŸบๆœฌ็š„ใซ่ชใ‚ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ€ฅๆ€งๆœŸใฎ็—‡็Šถใฏ้‡็ฏคใงใ‚ใ‚Šใ€ๅคง้ƒจๅˆ†ใฎ็—‡ไพ‹ใงไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใŒๅฟ…่ฆใซใชใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸใ‚’่„ฑใ—ใŸๅพŒใฏไธญๆžข็ฅž็ตŒใฎ้šœๅฎณใ‚’ๆฎ‹ใ™ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็™‚้คŠใŒๅฟ…่ฆใซใชใ‚‹ใ€‚็™บ็—‡ใซ็”ทๅฅณๅทฎใฏใชใใ€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็—‡้ ปๅบฆใฏ50๏ฝž100ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚" + "ใ‚ซใƒŠใƒใƒณ็—…ใฏใ€ใ‚ขใ‚นใƒ‘ใƒซใƒˆใ‚ขใ‚ทใƒฉใƒผใ‚ผ๏ผˆaspartoacylase๏ผšASPA๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžข็ฅž็ตŒ็ณปใซๅคง้‡ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€็จฎใงใ‚ใ‚‹N-ใ‚ขใ‚ปใƒใƒซใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธ๏ผˆN-acetyl-aspartate๏ผšNAA๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็™ฝ่ณชใฎใƒŸใ‚จใƒชใƒณ้ž˜ใฎ็ฉบ่ƒžๅŒ–ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€งใงไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅบงไฝใ‚„็™บ่ชžใ‚’็ฒๅพ—ใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚Šๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใชใฉใงๆญปไบกใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚" @ja
dcterms:identifier1200984NANDO:1200948
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/321-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/307-201704-kojin.pdf
rdfs:label - "nonketotic hyperglycinemia" + "Canavan disease" @en
rdfs:label - "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "ใ‹ใชใฐใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒŠใƒใƒณ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4399http://nanbyodata.jp/ontology/NANDO_2200834
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00191http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3061
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156576.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3062
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5440https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00074
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156561.docx
- skos:altLabel - "NKH" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5413
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100001
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011612http://purl.obolibrary.org/obo/MONDO_0010079
skos:prefLabel - "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "ใ‚ซใƒŠใƒใƒณ็—…" @ja
- - + - - + + + + + + - + - - + + + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200985 +
http://nanbyodata.jp/ontology/NANDO_1200949 (rdf:type owl:Class @@ -76360,60 +88667,76 @@

hasNotificationNumber321hasNotificationNumber308
+ dcterms:description + "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡๏ผˆMegalencephalic leukoencephalopathy with subcortical cysts๏ผ‰ใ€็™ฝ่ณชๆถˆๅคฑ็—…๏ผˆLeukoencephalopathy with vanishing white matter๏ผ‰ใ€ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆLeukoencephalopathy, progressive, with ovarian failure๏ผ‰ใฏใ€ไธ€ๅฎšๅนด้ฝขใพใงใฏๆญฃๅธธใซ็™บ้”ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅพŒใซ้€ฒ่กŒๆ€งใซๅคง่„ณ็™ฝ่ณช้šœๅฎณใ‚’ๆฅใ—ใ€ๅพใ€…ใซ้€€่กŒใ™ใ‚‹้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใฏใ€ๅคง่„ณ็™ฝ่ณช้šœๅฎณใŒ่ปฝๅบฆ้ ญ้ƒจๅค–ๅ‚ทใ‚„ๆ„ŸๆŸ“็—‡ใซใ‚ˆใ‚‹้ซ˜็†ฑใชใฉใ‚’ๅฅ‘ๆฉŸใซ้šŽๆฎต็Šถใซๆ‚ชๅŒ–ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„่ช็ŸฅๆฉŸ่ƒฝใฎไฝŽไธ‹ใ€ๅ››่‚ข้บป็—บ็—‡็Šถใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๅธธ็”Ÿๆดป่ƒฝๅŠ›ใฎไฝŽไธ‹ใŒๅพใ€…ใซ้ก•่‘—ใจใชใ‚‹ใ€‚ๆœ€็ต‚็š„ใซใฏๅฏใŸใใ‚Šใซใชใ‚Šใ€ๅŒป็™‚็š„ใ‚ฑใ‚ขใŒๅฟ…่ฆใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŒไธ€็–พๆ‚ฃใงใ‚ใฃใฆใ‚‚็™บ็—‡ๅนด้ฝขใฎๅน…ใฏๅบƒใใ€ไนณๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰ๆˆไบบๆœŸไปฅ้™ใฎ็™บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIๆคœๆŸปใซใ‚ˆใ‚‹ๅคง่„ณ็™ฝ่ณชใฎT2W้ซ˜ไฟกๅทใ‚„ๅšข่ƒžๅŒ–ใŒ็‰นๅพดใงใ‚ใ‚‹ใŒใ€็”ŸๅŒ–ๅญฆ็š„ๆคœๆŸปใชใฉใฎๅฎข่ฆณ็š„ใชๆŒ‡ๆจ™ใฏใชใใ€็ขบๅฎš่จบๆ–ญใฏ้บไผๅญ่จบๆ–ญใซใ‚ˆใ‚‹ใ—ใ‹ใชใ„ใ€‚" + @ja
dcterms:identifier1200985NANDO:1200949
- dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/321-201704-kojin.pdf + rdfs:label + "Progressive leukoencephalopathy" + @en
rdfs:label - "Neonatal nonketotic hyperglycinemia" - @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156576.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5440https://www.nanbyou.or.jp/entry/5416
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200984http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "Leukoencephalopathy" + @en
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200986 +
http://nanbyodata.jp/ontology/NANDO_1200950 (rdf:type owl:Class @@ -76421,60 +88744,82 @@

hasNotificationNumber321hasNotificationNumber308
dcterms:identifier1200986NANDO:1200950
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/321-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/308-01-201704-kojin.pdf
rdfs:label - "infantile nonketotic hyperglycinemia" + "Megaloencephalic leukoencephalopathy with subcortical cysts" @en
rdfs:label - "ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "ใฒใ—ใคใ‹ใฎใ†ใปใ†ใ‚’ใ‚‚ใคใ ใ„ใจใ†ใŒใŸใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156576.docxhttp://nanbyodata.jp/ontology/NANDO_2200837
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00875
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5440https://www.nanbyou.or.jp/entry/5416
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200984http://nanbyodata.jp/ontology/NANDO_1200949
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011391
skos:prefLabel - "ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200987 +
http://nanbyodata.jp/ontology/NANDO_1200951 (rdf:type owl:Class @@ -76482,77 +88827,82 @@

hasNotificationNumber322
- dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆT2๏ผ‰ใฎๆฌ ๆ็—‡ใงใ€ๅๅพฉๆ€งใฎ้‡็ฏคใชใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใฎใ‚นใƒ†ใƒƒใƒ—ใจใ‚ฑใƒˆใƒณไฝ“ใฎ่‚่‡“ๅค–็ต„็น”ใงใฎๅˆฉ็”จใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber308
dcterms:identifier1200987NANDO:1200951
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/322-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/308-02-201704-kojin.pdf
rdfs:label - "beta-ketothiolase deficiency" + "Vanishing white matter disease" @en
rdfs:label - "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ใฏใใ—ใคใ—ใ‚‡ใ†ใ—ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™ฝ่ณชๆถˆๅคฑ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1731http://nanbyodata.jp/ontology/NANDO_2200838
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156578.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4193
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5443https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5416
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200949
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008760http://purl.obolibrary.org/obo/MONDO_0011380
skos:prefLabel - "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "็™ฝ่ณชๆถˆๅคฑ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#1200988 +
http://nanbyodata.jp/ontology/NANDO_1200952 (rdf:type owl:Class @@ -76560,77 +88910,82 @@

hasNotificationNumber323
- dcterms:description - "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๏ผˆAromatic L-amino acid decarboxylase๏ผšAADC๏ผ‰ใฏL-ใƒ‰ใƒผใƒ‘๏ผˆL-DOPA๏ผ‰ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5โˆ’ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-hydroxytryptophan๏ผš5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใซๅฟ…้ ˆใฎ้…ต็ด ใงใ‚ใ‚‹ใ€‚ใใฎๆฌ ๆ็—‡ใฎๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžๅŠใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎใƒ›ใƒขใƒใƒชใƒ‹ใƒณ้…ธ๏ผˆhomovanillic acid๏ผšHVA๏ผ‰ๅŠใณใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใ‚คใƒณใƒ‰ใƒผใƒซ้…ข้…ธ๏ผˆ5-hydroxyindolacetic acid๏ผš5-HIAA๏ผ‰ใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎ็„กใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚" - @jahasNotificationNumber308
dcterms:identifier1200988NANDO:1200952
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/323-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/308-03-201704-kojin.pdf
rdfs:label - "Aromatic L-amino acid decarboxylase deficiency" + "Leukoencephalopathy, progressive, with ovarian failure" @en
rdfs:label - "่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚‰ใ‚“ใใ†ใใฎใ†ใ—ใ‚‡ใ†ใŒใ„ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚“ใ“ใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6353http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8702
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156602.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02200
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5446https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156562.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5416
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1200949
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012084http://purl.obolibrary.org/obo/MONDO_0014387
skos:prefLabel - "่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" + "ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡" @ja
- - + - - + + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200989 +
http://nanbyodata.jp/ontology/NANDO_1200953 (rdf:type owl:Class @@ -76638,62 +88993,86 @@

hasNotificationNumber324hasNotificationNumber309
dcterms:description - "ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’ๆฅใ™็–พๆ‚ฃใ‚’็ทใ˜ใฆใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใฆใŠใ‚Šใ€็•ฐ่ณชๆ€งใŒ้ซ˜ใใ€็พๅœจ๏ผ•ใคใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ใฏใ€ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผใฏใƒญใ‚คใ‚ทใƒณไปฃ่ฌใฎ๏ผ•ๆฎต้šŽ็›ฎใซไฝ็ฝฎใ—ใ€Iๅž‹ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚IIๅž‹ใฏBarth็—‡ๅ€™็พคใ€IIIๅž‹ใฏCosteff็—‡ๅ€™็พคใซใ‚ใŸใ‚‹๏ผˆใใ‚Œใžใ‚ŒX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€‚ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’่ชใ‚ใชใŒใ‚‰ใ€Iใ€IIใ€IIIๅž‹ใซใ‚ใŸใ‚‰ใชใ„ใ‚‚ใฎใŒIVๅž‹ใจใ•ใ‚Œใ€็จฎใ€…ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธ็—‡ใŒIVๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใจๅฐ่„ณๅคฑ่ชฟใ‚’ไผดใ†็–พๆ‚ฃ็พค๏ผˆDCMA็—‡ๅ€™็พค๏ผ‰ใŒVๅž‹ใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ๏ผˆIVๅž‹ใ€Vๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจใ—ใฆๆ‰ฑใ†ใ€‚๏ผ‰ใ€‚" + "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…๏ผˆUnverricht-Lundborg็—…๏ผšULD๏ผ‰ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…๏ผˆLafora็—…๏ผ‰ๅŠใณ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆbenign adult familial myoclonus epilepsy๏ผšBAFME๏ผ‰ใฏใ€้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonus epilepsy๏ผšPME๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚PMEใฏใ€โ‘ ไธ้šๆ„้‹ๅ‹•ใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€โ‘กใฆใ‚“ใ‹ใ‚“็™บไฝœใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœๅŠใณๅ…จ่ˆฌๅผท็›ด้–“ไปฃ็™บไฝœใ€โ‘ขๅฐ่„ณ็—‡็Šถใ€โ‘ฃ่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ‚’๏ผ”ๅพดใจใ—ใฆ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ใชใฉใฎ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใ€MELASใ‚„MERRFใชใฉใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ€็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใชใฉใ‚‚ๅซใ‚€ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ“ใงใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใซ็™บ็—‡ใ—ใฆๆˆไบบไปฅ้™ใ‚‚็ฝน็—…ๆœŸ้–“ใŒ้•ทใ„PMEใฎไธญๆ ธ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…ใ€ใ•ใ‚‰ใซใ€่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใ‚’ๆ‰ฑใ†ใ€‚่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฏใ€ๆ—ฅๆœฌใงๅคšใ„้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใงใ€ๆˆไบบไปฅ้™ใซ็™บ็—‡ใ—ใฆใ€ๅฝ“ๅˆ็—‡็Šถใฏ่ปฝๅบฆใงใ‹ใค็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹ใŒใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ๅ‰่€…ใฎ็‰นๅพดใ‹ใ‚‰ใ€Œ่‰ฏๆ€งใ€ใฎๅ็งฐใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใฎ็ ”็ฉถใ‹ใ‚‰ใฏ้€ฒ่กŒๆ€งใงใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ—ๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆActivities of Daily Living๏ผšADL๏ผ‰ใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier1200989NANDO:1200953
rdfs:label - "Methylglutaconic aciduria" + "Progressive myoclonus epilepsy" @en
rdfs:label - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docxhttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00810
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5425
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "PME" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020074
skos:prefLabel - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" + "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200990 +
http://nanbyodata.jp/ontology/NANDO_1200954 (rdf:type owl:Class @@ -76701,84 +89080,84 @@

hasNotificationNumber324hasNotificationNumber309
dcterms:identifier1200990NANDO:1200954
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/324-01-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/309-01-201704-kojin.pdf
rdfs:label - "3-methylglutaconic aciduria type I" + "Unverricht-Lundborg disease" @en
rdfs:label - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹" + "ใ†ใ‚“ใตใ‡ใ‚‹ใ‚Šใฒใจใƒปใ‚‹ใ‚“ใจใผใ‚‹ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฐ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2595http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2684
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449https://www.nanbyou.or.jp/entry/5425
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200989http://nanbyodata.jp/ontology/NANDO_1200953
skos:altLabel - "3-methylglutaconyl-CoA hydratase deficiency" + "ULD" @en
- skos:altLabel - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009610http://purl.obolibrary.org/obo/MONDO_0009698
skos:prefLabel - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹" + "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฐ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200991 +
http://nanbyodata.jp/ontology/NANDO_1200955 (rdf:type owl:Class @@ -76786,84 +89165,87 @@

hasNotificationNumber324hasNotificationNumber309
dcterms:identifier1200991NANDO:1200955
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/324-02-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/309-02-201704-kojin.pdf
rdfs:label - "3-methylglutaconicaciduria type II" + "Lafora disease" @en
rdfs:label - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹" + "ใ‚‰ใตใ‰ใ‚‰ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3355http://nanbyodata.jp/ontology/NANDO_2200881
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2683
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01994
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200989 + rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docx
- skos:altLabel - "Barth syndrome" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5425
- skos:altLabel - "Barth็—‡ๅ€™็พค" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200953
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010543http://purl.obolibrary.org/obo/MONDO_0009697
skos:prefLabel - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹" + "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1200992 +
http://nanbyodata.jp/ontology/NANDO_1200956 (rdf:type owl:Class @@ -76871,84 +89253,84 @@

hasNotificationNumber324hasNotificationNumber309
dcterms:identifier1200992NANDO:1200956
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/324-03-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/309-03-201704-kojin.pdf
rdfs:label - "3-methylglutaconic aciduria type III" + "benign adult familial myoclonus epilepsy" @en
rdfs:label - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹" + "ใ‚Šใ‚‡ใ†ใ›ใ„ใ›ใ„ใ˜ใ‚“ใŒใŸใ‹ใžใใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2774https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02213
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157918.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449https://www.nanbyou.or.jp/entry/5425
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200989http://nanbyodata.jp/ontology/NANDO_1200953
skos:altLabel - "Costeff syndrome" + "BAFME" @en
- skos:altLabel - "Costeff็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009787http://purl.obolibrary.org/obo/MONDO_0019448
skos:prefLabel - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹" + "่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" @ja
- - + - - + + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200993 +
http://nanbyodata.jp/ontology/NANDO_1200957 (rdf:type owl:Class @@ -76956,69 +89338,81 @@

hasNotificationNumber325hasNotificationNumber310
dcterms:description - "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฏใ€่‡ช็„ถๅ…็–ซ็ณปใซ้–ขใ‚ใ‚‹้บไผๅญ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใ€็”Ÿๆถฏใซใ‚ใŸใ‚ŠๆŒ็ถšใ™ใ‚‹็‚Ž็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆˆไบบๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹็–พ็—…ใฎใ†ใกใ€ๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พคใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€้ซ˜IgD็—‡ๅ€™็พคใ€ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พคใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ‚’้™คใ„ใŸใ€NLRC๏ผ”็•ฐๅธธ็—‡ใ€ADA๏ผ’๏ผˆAdenosine deaminase ๏ผ’๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค๏ผˆAicardi-Goutiรจresใ€€Syndrome๏ผšAGS๏ผ‰ใ€A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ADA๏ผ’ๆฌ ๆ็—‡ใงใฏใ€ไธปใซไธญๅ‹•่„ˆใซ็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใซ้กžไผผใ—ใŸๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พคใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ‚ใ‚Šใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใฏใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชA20ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅๅพฉๆ€งๅฃ่…”ๅ†…ใ‚ขใƒ•ใ‚ฟใ€็™บ็†ฑใ€้–ข็ฏ€็—›ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜็ญ‰ใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…้กžไผผ็—‡็Šถใ‚’่‹ฅๅนดใง็™บ็—‡ใ™ใ‚‹ใ€‚" + "ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆmalformation๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซ่ค‡ๆ•ฐใฎๅ™จๅฎ˜็ณป็ตฑใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅ˜ไธ€้ƒจไฝใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹่งฃๅ‰–ๅญฆ็š„้ƒจไฝใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๆ•ฐๅใ‹ใ‚‰ๆ•ฐ็™พใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹็—‡็Šถใฏใ€ๅฝฑ้Ÿฟใ‚’ๅ—ใ‘ใ‚‹่‡“ๅ™จใซใ‚ˆใ‚‹ใ€‚ๅฟƒ่‚บๆฉŸ่ƒฝใƒปๆถˆๅŒ–็ฎกๆฉŸ่ƒฝใƒป้›ฃๆฒปๆ€ง็—™ๆ”ฃใชใฉใฎไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚ˆใ‚Š็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€้‹ๅ‹•ๅ™จใ‚„ๆ„Ÿ่ฆšๅ™จใฎ้€ฒ่กŒๆ€งใฎๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier1200993NANDO:1200957
rdfs:label - "Hereditary autoinflammatory syndrome" + "Congenital anomalies syndrome" @en
rdfs:label - "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ" + "ใ›ใ‚“ใฆใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.dochttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407https://www.nanbyou.or.jp/entry/5500
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100004http://nanbyodata.jp/ontology/NANDO_1100014
skos:altLabel - "hereditary autoinflammatory diseases" + "Malformative syndrome" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000839
skos:prefLabel - "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ" + "ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค" + @ja + "1ใใ‚…ใƒผใถใถใ‚“ใ˜ใ‚…ใ†ใตใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#1200994 +
http://nanbyodata.jp/ontology/NANDO_1200958 (rdf:type owl:Class @@ -77026,60 +89420,72 @@

hasNotificationNumber325hasNotificationNumber310
dcterms:identifier1200994NANDO:1200958
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-01-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-01-201704-kojin.pdf
rdfs:label - "NLRC4 inflammasomopathies" - @en
rdfs:label - "NLRC๏ผ”็•ฐๅธธ็—‡" - @ja
+ rdfs:label + "Partial trisomy 1q" + @en
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.dochttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407https://www.nanbyou.or.jp/entry/5500
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200993http://nanbyodata.jp/ontology/NANDO_1201022
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016952
skos:prefLabel - "NLRC๏ผ”็•ฐๅธธ็—‡" + "1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "9q34 deletion syndrome" + @en + "9q34ๆฌ ๅคฑ็—‡ๅ€™็พค" + @ja - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1200995 +
http://nanbyodata.jp/ontology/NANDO_1200959 (rdf:type owl:Class @@ -77087,70 +89493,79 @@

hasNotificationNumber325hasNotificationNumber310
dcterms:identifier1200995NANDO:1200959
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-02-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-02-201704-kojin.pdf
rdfs:label - "ADA๏ผ’ๆฌ ๆ็—‡" - @ja
rdfs:label - "Adenosine deaminase 2 deficiency" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9433 + rdfs:label + "9ใใ‚…ใƒผ34ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.dochttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407https://www.nanbyou.or.jp/entry/5500
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200993http://nanbyodata.jp/ontology/NANDO_1201022
+ skos:altLabel + "Kleefstra syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014306http://purl.obolibrary.org/obo/MONDO_0012455
skos:prefLabel - "ADA๏ผ’ๆฌ ๆ็—‡" + "9q34ๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#1200996 +
http://nanbyodata.jp/ontology/NANDO_1200960 (rdf:type owl:Class @@ -77158,82 +89573,82 @@

hasNotificationNumber325hasNotificationNumber310
dcterms:identifier1200996NANDO:1200960
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-03-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-03-201704-kojin.pdf
rdfs:label - "Aicardi-Goutiรจresใ€€Syndrome" + "Cornelia de lange syndrome" @en
rdfs:label - "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + "ใ“ใ‚‹ใญใ‚Šใ‚ใƒปใงใ‚‰ใ‚“ใ’ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2151http://nanbyodata.jp/ontology/NANDO_2200958
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.dochttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00631
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200993https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docx
- skos:altLabel - "AGS" - @en + rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5500
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009165 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200957
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018866http://purl.obolibrary.org/obo/MONDO_0016033
skos:prefLabel - "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200997 +
http://nanbyodata.jp/ontology/NANDO_1200961 (rdf:type owl:Class @@ -77241,60 +89656,87 @@

hasNotificationNumber325hasNotificationNumber310
dcterms:identifier1200997NANDO:1200961
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-04-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-04-201704-kojin.pdf
rdfs:label - "A20 haploinsufficiency" + "Smith-lemli-opitz syndrome" @en
rdfs:label - "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" + "ใ™ใฟใ™ใƒปใ‚Œใ‚€ใ‚ŠใƒปใŠใดใฃใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.dochttp://nanbyodata.jp/ontology/NANDO_2200979
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3017
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00161
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5500
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1200993http://nanbyodata.jp/ontology/NANDO_1200957
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010035
skos:prefLabel - "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" + "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#1200998 +
http://nanbyodata.jp/ontology/NANDO_1200962 (rdf:type owl:Class @@ -77302,77 +89744,103 @@

hasNotificationNumber326hasNotificationNumber311
dcterms:description - "ๅคง็†็Ÿณ้ชจ็—…ใฏใ€็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚‹้ชจๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็ ด้ชจ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ใฏๅคš็›ธใงใ‚ใ‚‹ใŸใ‚ใ€้บไผ็š„็•ฐ่ณชๆ€งใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€็—‡็Šถใ‚‚ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹๏ผไนณๅ…ๅž‹ใ€ไธญ็ญ‰ๅบฆใฎไธญ้–“ๅž‹ใ€่ปฝ็—‡ใฎ้…็™บๅž‹ใพใงๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ๆœช็†Ÿ้ชจ๏ผˆไธ€ๆฌก้ชจๆข๏ผ‰ใฎๆˆ็†Ÿ้ชจ๏ผˆ็ทปๅฏ†้ชจ๏ผ‰ใธใฎ็ฝฎๆ›ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœใ€ๆœช็†Ÿ้ชจใง่ฆ†ใ„ๅฐฝใใ•ใ‚ŒใŸ้ชจใฏ็กฌๅŒ–ใ—ใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่„†ใ„ใ€‚ใพใŸใ€้Žๅ‰ฐใชๆœช็†Ÿ้ชจใฏ้ชจ้ซ„่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€้ชจ้ซ„ๆฉŸ่ƒฝไธๅ…จ๏ผˆ่ฒง่ก€ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่‚่„พ่…ซใชใฉ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ญ่“‹ๅบ•ใฎ้ชจ่‚ฅๅŽšใซใ‚ˆใ‚‹่„ณ็ฅž็ตŒ็—‡็Šถ๏ผˆ้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€้ก”้ข็ฅž็ตŒ้บป็—บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆๅณๆˆฟใ‹ใ‚‰ๅณๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๆˆฟๆตๅ…ฅ่ก€ๆตใฎๅ…จใฆใ‚’ๅณๅฎคใธ้€š้Žใ•ใ›ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ๅฟƒๆˆฟ้–“ใงใฏๅณๅทฆ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ€ไฝŽ้…ธ็ด ่ก€็—‡ใจใชใ‚‹ใ€‚ๆ‰‹่ก“ใ‚’ๅซใ‚ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆŒ็ถšใ™ใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹ๅคš่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ€‚่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ€้ซ˜ๅบฆใชไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จใ‚’ไฝต็™บใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซๅฟƒใƒป่‚บใฎ็Šถๆ…‹ใŒ่จฑใ›ใฐใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ใฎๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ นๆฒป็š„ใชๆฒป็™‚ใงใฏใชใ้ ้š”ๆœŸใซๅพช็’ฐ็ ด็ถปใ‚’็”Ÿใ˜ๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" @ja
dcterms:identifier1200998NANDO:1200962
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/326-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/311-201704-kojin.pdf
rdfs:label - "Osteopetrosis" + "Congenital tricuspid stenosis" @en
rdfs:label - "ๅคง็†็Ÿณ้ชจ็—…" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ‚“ใ›ใ‚“ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00436http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4313
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156606.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156566.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5392https://www.nanbyou.or.jp/entry/5395
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100002http://nanbyodata.jp/ontology/NANDO_1100005
+ skos:altLabel + "Congenital tricuspid atresia" + @en
+ skos:altLabel + "Tricuspid atresia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017198http://purl.obolibrary.org/obo/MONDO_0011514
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019813
skos:prefLabel - "ๅคง็†็Ÿณ้ชจ็—…" + "ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1200999 +
http://nanbyodata.jp/ontology/NANDO_1200963 (rdf:type owl:Class @@ -77380,74 +89848,91 @@

hasNotificationNumber327hasNotificationNumber312
dcterms:description - "็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚" + "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…ˆๅคฉ็š„ใชๅผ่ผชใฎไฝŽๅฝขๆˆใ€ๅผไธŠ็‹ญ็ช„่ผชใ€ๅผๅˆใฏๅผไธ‹็ต„็น”ใฎๆง‹้€ ็•ฐๅธธใชใฉใซ่ตทๅ› ใ™ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃ๏ผˆๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉ๏ผ‰ใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚" @ja
dcterms:identifier1200999NANDO:1200963
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/327-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/312-201704-kojin.pdf
rdfs:label - "Idiopathic thrombosis ๏ผˆinherited cause of thrombosis๏ผ‰๏ผˆneonates, infants๏ผ‰" + "Congenital mitral stenosis" @en
rdfs:label - "็‰น็™บๆ€ง่ก€ๆ “็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ†ใผใ†ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156608.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156567.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5419https://www.nanbyou.or.jp/entry/5398
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100005
skos:altLabel - "Idiopathic thrombosis" + "mitral stenosis" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005852
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020398
skos:prefLabel - "็‰น็™บๆ€ง่ก€ๆ “็—‡" + "ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#1201000 +
http://nanbyodata.jp/ontology/NANDO_1200964 (rdf:type owl:Class @@ -77455,89 +89940,79 @@

hasNotificationNumber328hasNotificationNumber313
dcterms:description - "ๅ‰็œผ้ƒจใฎ็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๆ€งใซ่ง’่†œๆททๆฟใ‚’ๆฅใ—ใ€่ฆ–ๅŠ›้šœๅฎณใ€่ฆ–ๆฉŸ่ƒฝ็™บ้”็•ฐๅธธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่‚บ้™่„ˆใŒๅ…ˆๅคฉๆ€งใซ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ้–‰้Ž–ใจใชใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ฑ้€š่‚บ้™่„ˆ่…”ใฎๅทฆๆˆฟใธใฎๅธๅŽ้Ž็จ‹ใซใŠใ‘ใ‚‹็•ฐๅธธใจใ•ใ‚Œใ€่‚บๅค–ใฎ่‚บ้™่„ˆใŒไธปใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ใใฎ็™บ็”Ÿ็•ฐๅธธใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็‰‡ๅดใฎใฟใฎ่‚บ้™่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใฏๅทฆๅดใงใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ“ๆœฌไปฅไธŠ็‹ญ็ช„ใŒใ‚ใ‚Œใฐใ€่‚บ้ซ˜่ก€ๅœงใ€ๅณๅฟƒไธๅ…จใ‚’ๅˆไฝตใ—ใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚" @ja
dcterms:identifier1201000NANDO:1200964
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/328-201704-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/313-201704-kojin.pdf
rdfs:label - "Anterior segment dysgenesis" + "Congenital pulmonary vein stenosis" @en
rdfs:label - "ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=113 + rdfs:label + "ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡" + @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198090.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156568.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5455https://www.nanbyou.or.jp/entry/5401
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011
- skos:altLabel - "ASGD1" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007138http://nanbyodata.jp/ontology/NANDO_1100005
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019503http://purl.obolibrary.org/obo/MONDO_0017864
skos:prefLabel - "ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ" + "ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#1201001 +
http://nanbyodata.jp/ontology/NANDO_1200965 (rdf:type owl:Class @@ -77545,77 +90020,93 @@

hasNotificationNumber329hasNotificationNumber314
dcterms:description - "็„ก่™นๅฝฉ็—‡ใฏ่™นๅฝฉใŒๅฎŒๅ…จใพใŸใฏไธๅฎŒๅ…จใซๆฌ ๆใ—ใฆใ„ใ‚‹ใ“ใจใง่ฆ‹ๅ‡บใ•ใ‚Œใ‚‹้บไผๆ€ง็–พ็—…ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚่ฒฌไปป้บไผๅญใฏPAX6้บไผๅญใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰ไธก็œผๆ€งใฎๅผทใ„่ฆ–ๅŠ›ไธ่‰ฏใ‚’่ชใ‚ใ€ๅคงๅŠใŒ่ฆ–่ฆš้šœๅฎณๅ…ใจใชใ‚‹ใ€‚ๆœฌ็–พ็—…ใฎ็™บ็—‡้ ปๅบฆใฏ10ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏใชใ„ใ€‚ๆ‚ฃ่€…ใฎ๏ผ˜ๅ‰ฒ็จ‹ๅบฆใŒๅฎถๆ—ๆ€งใซ็™บ็—‡ใ—ใฆใŠใ‚Šใ€ๆฎ‹ใ‚‹๏ผ’ๅ‰ฒใฏๆ•ฃ็™บๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€‚" + "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นๅŠใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจๅŠใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใฏใ€ๆˆไบบๆœŸใซใฏ่‚บๆฐ—่…ซใ€็„กๆฐ—่‚บใชใฉใซใ‚ˆใฃใฆๆ…ขๆ€งๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚" @ja
dcterms:identifier1201001NANDO:1200965
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/329-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/314-201704-kojin.pdf
rdfs:label - "Aniridia" + "Vascular sling" @en
rdfs:label - "็„ก่™นๅฝฉ็—‡" + "ใฒใ ใ‚Šใฏใ„ใฉใ†ใฟใ‚ƒใใฟใŽใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00635http://nanbyodata.jp/ontology/NANDO_2200291
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198092.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156569.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5452https://www.nanbyou.or.jp/entry/5404
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011http://nanbyodata.jp/ontology/NANDO_1100005
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019172 + skos:altLabel + "PA sling" + @en
+ skos:altLabel + "Pulmonary artery sling" + @en
skos:prefLabel - "็„ก่™นๅฝฉ็—‡" + "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
- - + - - + + - + + + + + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#1201002 +
http://nanbyodata.jp/ontology/NANDO_1200966 (rdf:type owl:Class @@ -77623,62 +90114,74 @@

hasNotificationNumber330hasNotificationNumber315
dcterms:description - "ๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅ–‰้ ญ๏ผ‰ใจไธ‹ๆฐ—้“๏ผˆๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏๅฃฐ้–€ไธ‹่…”ใ‚„ๆฐ—็ฎกใซๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ใ‚„ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚ๅคšใใŒๆ•‘ๅ‘ฝใฎใŸใ‚็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใฏ้™คใใ€‚" + "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผLMX1B้–ข้€ฃ่…Ž็—‡ใฏใ€็ˆชๅฝขๆˆไธๅ…จใ€่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆใ€่…ธ้ชจใฎ่ง’็Šถ็ช่ตท๏ผˆiliac horn๏ผ‰ใ€่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’๏ผ”ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—ใ€ไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ๅŽŸๅ› ใฏLMX1B้บไผๅญๅค‰็•ฐใงใ‚ใ‚‹ใ€‚็ˆชใ€่†่“‹้ชจใ€่…ธ้ชจใชใฉใฎๅค‰ๅŒ–ใ‚’ไผดใ‚ใšใ€่…Ž็—‡ใ ใ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พคๆง˜่…Ž็—‡๏ผˆnail-patella-like renal disease๏ผšNPLRD๏ผ‰ใ‚„ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ๆ‚ฃ่€…ใซใ‚‚ใ€LMX1B้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใฏLMX1B้–ข้€ฃ่…Ž็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1201002NANDO:1200966
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/315-201704-kojin.pdf
rdfs:label - "Congenital tracheal stenosis/Congenital Subglottic Stenosis" + "Nail-patella syndrome/LMX1B-Associated Nephropathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + "ใญใ„ใ‚‹ใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใใ†ใ—ใคใŒใ„ใ“ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผ‰๏ผใˆใ‚‹ใˆใ‚€ใˆใฃใใ™1ใณใƒผใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198093.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156570.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5422https://www.nanbyou.or.jp/entry/5470
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100010http://nanbyodata.jp/ontology/NANDO_1100007
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - + - - - - - - - - + "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#1201003 +
http://nanbyodata.jp/ontology/NANDO_1200967 (rdf:type owl:Class @@ -77686,87 +90189,94 @@

hasNotificationNumber330hasNotificationNumber315
dcterms:identifier1201003NANDO:1200967
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/330-01-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/315-201704-kojin.pdf
rdfs:label - "Congenital tracheal stenosis" + "Nail-patella syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡" + "ใญใ„ใ‚‹ใƒปใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=240http://nanbyodata.jp/ontology/NANDO_2200132
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198093.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1051
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5422https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00464
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156570.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5470
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1201002http://nanbyodata.jp/ontology/NANDO_1200966
skos:altLabel - "CTS" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007275
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011340
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020730http://purl.obolibrary.org/obo/MONDO_0008061
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡" + "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#1201004 +
http://nanbyodata.jp/ontology/NANDO_1200968 (rdf:type owl:Class @@ -77774,65 +90284,67 @@

hasNotificationNumber330hasNotificationNumber315
dcterms:identifier1201004NANDO:1200968
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/330-02-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/315-201704-kojin.pdf
rdfs:label - "Congenital Subglottic Stenosis" + "LMX1B-Associated Nephropathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + "ใˆใ‚‹ใˆใ‚€ใˆใฃใใ™1ใณใƒผใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198093.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156570.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5422https://www.nanbyou.or.jp/entry/5470
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1201002
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015395http://nanbyodata.jp/ontology/NANDO_1200966
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + "๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#1201005 +
http://nanbyodata.jp/ontology/NANDO_1200969 (rdf:type owl:Class @@ -77840,72 +90352,79 @@

hasNotificationNumber331hasNotificationNumber316
dcterms:description - "ใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ๏ผŒใƒชใƒณใƒ‘็ฏ€ใฎ็—…็†็ต„็น”ๅƒใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅคšใ‚ฏใƒญใƒผใƒณๆ€งใฎใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็—…ๅค‰ใŒ1ใคใฎ้ ˜ๅŸŸใซ้™ๅฑ€ใ™ใ‚‹ๅ˜ไธญๅฟƒๆ€ง๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใจ๏ผŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซๅบƒใŒใ‚‹ๅคšไธญๅฟƒๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚‰ใฏ่‡จๅบŠๅƒใ‚„ๆฒป็™‚ๆณ•ใŒๅคงใใ็•ฐใชใ‚‹ใ€‚ๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฎใ†ใกใ€ใƒ’ใƒˆใƒปใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผ˜ๅž‹ๆ„ŸๆŸ“ใŒใฟใ‚‰ใ‚Œใชใ„ๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใŒ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใจใ—ใฆๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใฆๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ้ซ˜ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณ๏ผ–่ก€็—‡ใซใ‚ˆใ‚‹็™บ็†ฑใ‚„ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€่ฒง่ก€ใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšใใฎๅ ดๅˆใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚" + "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ตใ‚คใ‚ฏใƒซใ‚’ๆง‹ๆˆใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ‘๏ผˆCPT1๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ’๏ผˆCPT2๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผ๏ผˆCACT๏ผ‰ๅŠใณใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซ่ผธ้€ใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆOCTN-2๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใชใใชใ‚Šใ€ใใฎ็ตๆžœใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚่‡จๅบŠ็—…ๅž‹ใจใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier1201005NANDO:1200969
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/331-201804-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdf
rdfs:label - "Idiopathic multicentric Castleman's disease" + "Carnitine cycle disorders" @en
rdfs:label - "็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…" + "ใ‹ใ‚‹ใซใกใ‚“ใ‹ใ„ใ‚ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198086.docxhttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docx
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5749https://www.nanbyou.or.jp/entry/5428
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100006http://nanbyodata.jp/ontology/NANDO_1100002
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019754http://purl.obolibrary.org/obo/MONDO_0017716
skos:prefLabel - "็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…" + "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#1201006 +
http://nanbyodata.jp/ontology/NANDO_1200970 (rdf:type owl:Class @@ -77913,77 +90432,94 @@

hasNotificationNumber332
- dcterms:description - "่ง’่†œๅฎŸ่ณชใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็œผ็—›ใชใฉใฎไธๅฟซๆ„Ÿใจใจใ‚‚ใซ่‘—ๆ˜Žใช่ฆ–ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบๅ”†ใ™ใ‚‹ๅฎถๆ—ๆญด(ๅ…„ๅผŸๅง‰ๅฆน้–“ใฎๅฎถ็ณปๅ†…็™บ็—‡ใ€ไธก่ฆชใฎ่ก€ๆ—ๅฉšใชใฉ)ใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ€TACSTD2้บไผๅญใฎไธกใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๆ€งๅค‰็•ฐใซใ‚ˆใ‚‹่ง’่†œไธŠ็šฎใƒใƒชใ‚ขๆฉŸ่ƒฝใฎ็ ด็ถปใŒๅŽŸๅ› ใจใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber316
dcterms:identifier1201006NANDO:1200970
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/332-201806-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdf
rdfs:label - "gelatinous drop-like corneal dystrophy" + "Carnitine palmitoyltransferase I deficiency" @en
rdfs:label - "่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1747http://nanbyodata.jp/ontology/NANDO_2200509
rdfs:seeAlsohttps://www.mhlw.go.jp/content/10900000/000522592.docxhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2691
rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/6016https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01981
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5429
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100011http://nanbyodata.jp/ontology/NANDO_1200969
+ skos:altLabel + "CPT1ๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008777http://purl.obolibrary.org/obo/MONDO_0009705
skos:prefLabel - "่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#1201007 +
http://nanbyodata.jp/ontology/NANDO_1200971 (rdf:type owl:Class @@ -77991,44 +90527,3211 @@

hasNotificationNumber333
- dcterms:description - "้บไผๆ€งๆ—ฉ่€็—‡ใฎไธญใงๆœ€ใ‚‚็—‡็ŠถใŒ้‡็ฏคใช็–พๆ‚ฃใ€‚็”ŸๅพŒๅŠๅนดใ‹ใ‚‰๏ผ’ๅนดใงๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽๅŠใณๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณๅŠใณๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ14.6ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้›ฃ็—…็ ”็ฉถ็ญใฎๅ…จๅ›ฝ่ชฟๆŸปใง็ด„10ไบบใฎๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚ŒใฆใŠใ‚Šใ€ๆˆไบบไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ๅ›ฝๅ†…ใง20ๆญณใ‚’่ถ…ใˆใŸ็”Ÿๅญ˜ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบๆœŸใฎๅˆไฝต็—‡ใง้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใจใ—ใฆใฏใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃๅŠใณๅคš้‡ใŒใ‚“ใŒใ‚ใ‚Šใ€็‰นใซ่„ณ่ก€็ฎก้šœๅฎณใซใคใ„ใฆใฏ็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ™ใ‚‹ใจใ„ใ†็‰นๅพดใ‚’ๆŒใคใ€‚" - @jahasNotificationNumber316
dcterms:identifier1201007NANDO:1200971
dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/333-201806-kojin.pdfhttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdf
rdfs:label - "Hutchinson-Gilford syndrome" + "Carnitine palmitoyltransferase II deficiency" @en
rdfs:label - "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" + "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1290http://nanbyodata.jp/ontology/NANDO_2200510
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01982
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200969
+ skos:altLabel + "CPT II deficiency" + @en
+ skos:altLabel + "CPT2ๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015515
+ skos:prefLabel + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200972 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber316
+ dcterms:identifierNANDO:1200972
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdf
+ rdfs:label + "Carnitine-acylcarnitine translocase deficiency" + @en
+ rdfs:label + "ใ‹ใ‚‹ใซใกใ‚“/ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200511
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1891
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01983
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200969
+ skos:altLabel + "CACTๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008918
+ skos:prefLabel + "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200973 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber316
+ dcterms:identifierNANDO:1200973
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/316-201704-kojin.pdf
+ rdfs:label + "Systemic primary carnitine deficiency" + @en
+ rdfs:label + "ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1892
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01589
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156571.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5428
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200969
+ skos:altLabel + "CDSP" + @en
+ skos:altLabel + "Carnitine deficiency, systemic primary" + @en
+ skos:altLabel + "Carnitine uptake defect" + @en
+ skos:altLabel + "OCTN-2็•ฐๅธธ็—‡" + @ja
+ skos:altLabel + "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008919
+ skos:prefLabel + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200974 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber317
+ dcterms:description + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎฮฒ-้…ธๅŒ–็ณปใฎใ†ใกใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซ็ตๅˆใ—ใŸ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ๅ›ž่ทฏใ‚’ๅฝขๆˆใ™ใ‚‹๏ผ’้…ต็ด ใฎ๏ผ‘ใคใงใ€้•ท้Ž–่„‚่‚ช้…ธฮฒ้…ธๅŒ–ๅ›ž่ทฏใฎ็ฌฌ๏ผ’ใฎ้…ต็ด ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆenoyl-CoA hydratase๏ผšLCEH๏ผ‰ใ€็ฌฌ๏ผ“ใฎ 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆ3-hydroxyacyl-CoA dehydrogenase๏ผšLCHAD๏ผ‰ใ€็ฌฌ๏ผ”ใฎ3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆ3-ketoacyl-CoA thiolase๏ผšLCKT๏ผ‰ใฎ๏ผ“ใคใฎๆฉŸ่ƒฝใ‚’ๆŒใฃใŸไธ‰้ ญ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใงใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ๅนผๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ—้ชจๆ ผ็ญ‹็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง่จบๆ–ญใ•ใ‚ŒใŸใ€ๅˆใฏๅฎถๆ—ๆคœ็ดขใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็„ก็—‡็Šถใฎ็—‡ไพ‹ใฏใฉใฎ็—…ๅž‹ใ‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใพใงใ€็™บ็—‡ๅ‰ๅž‹ใจๆšซๅฎš็š„ใซๅˆ†้กžใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200974
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdf
+ rdfs:label + "Trifunctional protein deficiency" + @en
+ rdfs:label + "ใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200515
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6449
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "TFP deficiency" + @en
+ skos:altLabel + "mitochondrial trifunctional protein deficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012172
+ skos:prefLabel + "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200975 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber317
+ dcterms:identifierNANDO:1200975
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdf
+ rdfs:label + "Trifunctional protein deficiency, lethal type" + @en
+ rdfs:label + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201148
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200974
+ skos:prefLabel + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200976 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber317
+ dcterms:identifierNANDO:1200976
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdf
+ rdfs:label + "Trifunctional protein deficiency, intermediate type" + @en
+ rdfs:label + "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201149
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200974
+ skos:prefLabel + "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200977 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber317
+ dcterms:identifierNANDO:1200977
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/317-201704-kojin.pdf
+ rdfs:label + "Trifunctional protein deficiency, myopathic type" + @en
+ rdfs:label + "ใกใฏใคใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201150
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6449
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156572.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5431
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200974
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012172
+ skos:prefLabel + "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200978 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber318
+ dcterms:description + "ใ‚ทใƒˆใƒชใƒณใฏใ€่‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใƒปใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚Šใ€ใƒชใƒณใ‚ด้…ธใƒปใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‚ทใƒฃใƒˆใƒซใฎไธ€ๅ“กใจใ—ใฆใ€็ดฐ่ƒž่ณชใง็”Ÿใ˜ใŸNADHใฎ้‚„ๅ…ƒใ‚จใƒใƒซใ‚ฎใƒผใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธ่ผธ้€ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซNADHใ‚’็”ฃ็”Ÿใ™ใ‚‹ๅๅฟœใซ้–ขไธŽใ™ใ‚‹ใ€‚ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใงใฏๅนด้ฝขไพๅญ˜็š„ใซ๏ผ’ใคใฎ็—…ๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ใฎ็—…ๅž‹ใงใ‚ใ‚‹NICCD๏ผˆneonatal intrahepatic cholestasis caused by citrin deficiency๏ผ‰ๅŠใณๆˆไบบๆœŸใฎๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆCTLN2๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆฑใ‚ขใ‚ธใ‚ขใ‹ใ‚‰ๆฑๅ—ใ‚ขใ‚ธใ‚ขใง้ ปๅบฆใŒ้ซ˜ใใ€ๅฐ‘ๆ•ฐใชใŒใ‚‰ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฎไฟๅ› ่€…้ ปๅบฆใฏ1/65ใงใ‚ใ‚Šใ€็†่ซ–ไธŠใฎๆœ‰็—…็Ž‡ใฏ1/17,000ใจใชใ‚‹ใ€‚CTLN2ใฎ็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใฎ็ด„20๏ผ…ใฎๆ‚ฃ่€…ใŒCTLN2ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใจใชใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200978
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdf
+ rdfs:label + "Citrin deficiency" + @en
+ rdfs:label + "ใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200483
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5434
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016602
+ skos:prefLabel + "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200979 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber318
+ dcterms:identifierNANDO:1200979
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdf
+ rdfs:label + "Neonatal intrahepatic cholestasis caused by citrin deficiency" + @en
+ rdfs:label + "ใ—ใ‚“ใ›ใ„ใ˜ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4390
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5434
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200978
+ skos:altLabel + "NICCD" + @en
+ skos:altLabel + "NICCD" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011601
+ skos:prefLabel + "ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200980 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber318
+ dcterms:identifierNANDO:1200980
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdf
+ rdfs:label + "Adult-onset type II citrullinemia" + @en
+ rdfs:label + "ใ›ใ„ใ˜ใ‚“ใฏใฃใ—ใ‚‡ใ†2ใŒใŸใ—ใจใ‚‹ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4144
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5435
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200978
+ skos:altLabel + "Adult-onset type II citrullinaemia" + @en
+ skos:altLabel + "CTLN2" + @en
+ skos:altLabel + "CTLN2" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011326
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016603
+ skos:prefLabel + "ๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200981 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber318
+ dcterms:identifierNANDO:1200981
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/318-201704-kojin.pdf
+ rdfs:label + "Failure to thrive and dyslipidemia caused by citrin deficiency" + @en
+ rdfs:label + "ใฆใใŠใ†ใƒปใ ใ„ใ—ใ‚‡ใ†ใใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156573.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5434
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200978
+ skos:altLabel + "FTTDCD" + @en
+ skos:altLabel + "Failure to thrive and dyslipidaemia caused by citrin deficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016602
+ skos:prefLabel + "้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200982 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber319
+ dcterms:description + "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใฏ๏ผ“็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธๆฐด้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎ็”Ÿๅˆๆˆใซ้–ขใ‚ใ‚‹SRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€BH4ใฎๆฌ ไนใ‚’ๆฅใ™้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ใ€‚่‚่‡“ใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใงBH4ใŒๅˆๆˆใ•ใ‚Œใ‚‹ใŸใ‚ใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใฏๆฅใ•ใชใ„ใŒใ€่„ณใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใŒๅผฑใๅฟ…่ฆใชBH4ใฏๅˆๆˆใ•ใ‚Œใชใ„ใŸใ‚ใ€ใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณๅŠใณใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€BH4ๆฌ ๆ็—‡ใจๅŒๆง˜ใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใŒใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใ‚’ๆฅใ•ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€่จบๆ–ญใจๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ‚ฃ่€…ๆ•ฐใฏใ€ๆœฌ้‚ฆใงใฏ2014ๅนดใซ็ฌฌ๏ผ‘ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใซ้ŽใŽใšใ€ไธ–็•Œใงใ‚‚50ไพ‹็จ‹ๅบฆใฎๆฅตใ‚ใฆใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200982
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/319-201704-kojin.pdf
+ rdfs:label + "Sepiapterin reductase deficiency" + @en
+ rdfs:label + "ใ›ใดใ‚ใทใฆใ‚Šใ‚“ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7217
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156574.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5437
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "SRD" + @en
+ skos:altLabel + "๏ผณ๏ผฒๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012994
+ skos:prefLabel + "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200983 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber320
+ dcterms:description + "็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚GPIใŒๆฌ ๆใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ใฎๅ…จใฆใฎ่›‹็™ฝ่ณชใŒ็ดฐ่ƒž่กจ้ขใซ็™บ็พใงใใชใ„ใ€‚็พๅœจใพใงใซ27ๅ€‹ใฎ้บไผๅญใŒGPIใ‚ขใƒณใ‚ซใƒผๅž‹่›‹็™ฝ่ณชใฎ็”Ÿๅˆๆˆใ‚„ใ€ไฟฎ้ฃพใซๅฟ…่ฆใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡๏ผˆInherited GPI deficienc๏ฝ™๏ผšIGD๏ผ‰ใŒๆฌกใ€…ใจ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€็พๅœจใพใงใซ15็จฎ้กžใฎ้บไผๅญใซใ‚ˆใ‚‹IGDใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200983
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/320-201704-kojin.pdf
+ rdfs:label + "Inherited glycosylphosphatidylinositol deficiency" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200841
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6748
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156575.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5410
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100001
+ skos:altLabel + "IGD" + @en
+ skos:altLabel + "ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012465
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200984 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber321
+ dcterms:description + "ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใงใ‚ใ‚‹ใ‚ฐใƒชใ‚ทใƒณใ‚’ๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ—ใฆใ„ใ‚‹ใŸใ‚ใซไฝ“ๅ†…ใซใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒๆ•ฐๆ—ฅใงๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€ใชใฉ่„ณ็—‡ๆง˜ใฎ็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไธญๆžข็ฅž็ตŒ็ณปใฎ้šœๅฎณใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคง้ƒจๅˆ†ใ‚’ๅ ใ‚ใ€่‚่‡“ใ‚„่…Ž่‡“ใชใฉใฎไป–ใฎ่‡“ๅ™จ้šœๅฎณใฏๅŸบๆœฌ็š„ใซ่ชใ‚ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ€ฅๆ€งๆœŸใฎ็—‡็Šถใฏ้‡็ฏคใงใ‚ใ‚Šใ€ๅคง้ƒจๅˆ†ใฎ็—‡ไพ‹ใงไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใŒๅฟ…่ฆใซใชใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸใ‚’่„ฑใ—ใŸๅพŒใฏไธญๆžข็ฅž็ตŒใฎ้šœๅฎณใ‚’ๆฎ‹ใ™ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็™‚้คŠใŒๅฟ…่ฆใซใชใ‚‹ใ€‚็™บ็—‡ใซ็”ทๅฅณๅทฎใฏใชใใ€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็—‡้ ปๅบฆใฏ50๏ฝž100ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200984
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/321-201704-kojin.pdf
+ rdfs:label + "Nonketotic hyperglycinemia" + @en
+ rdfs:label + "ใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200476
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4399
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00191
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156576.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5441
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:altLabel + "NKH" + @en
+ skos:altLabel + "Nonketotic hyperglycinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011612
+ skos:prefLabel + "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200985 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber321
+ dcterms:identifierNANDO:1200985
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/321-201704-kojin.pdf
+ rdfs:label + "Neonatal nonketotic hyperglycinemia" + @en
+ rdfs:label + "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156576.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5441
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200984
+ skos:altLabel + "Neonatal nonketotic hyperglycinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017353
+ skos:prefLabel + "ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200986 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber321
+ dcterms:identifierNANDO:1200986
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/321-201704-kojin.pdf
+ rdfs:label + "Infantile nonketotic hyperglycinemia" + @en
+ rdfs:label + "ใซใ‚…ใ†ใ˜ใŒใŸใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156576.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5441
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200984
+ skos:altLabel + "Infantile nonketotic hyperglycinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017354
+ skos:prefLabel + "ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200987 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber322
+ dcterms:description + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆT2๏ผ‰ใฎๆฌ ๆ็—‡ใงใ€ๅๅพฉๆ€งใฎ้‡็ฏคใชใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใฎใ‚นใƒ†ใƒƒใƒ—ใจใ‚ฑใƒˆใƒณไฝ“ใฎ่‚่‡“ๅค–็ต„็น”ใงใฎๅˆฉ็”จใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200987
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/322-201704-kojin.pdf
+ rdfs:label + "Beta-ketothiolase deficiency" + @en
+ rdfs:label + "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ rdfs:label + "ในใƒผใŸใ‘ใจใกใŠใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200493
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1731
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156578.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5443
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008760
+ skos:prefLabel + "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200988 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber323
+ dcterms:description + "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๏ผˆAromatic L-amino acid decarboxylase๏ผšAADC๏ผ‰ใฏL-ใƒ‰ใƒผใƒ‘๏ผˆL-DOPA๏ผ‰ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5โˆ’ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-hydroxytryptophan๏ผš5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใซๅฟ…้ ˆใฎ้…ต็ด ใงใ‚ใ‚‹ใ€‚ใใฎๆฌ ๆ็—‡ใฎๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžๅŠใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎใƒ›ใƒขใƒใƒชใƒ‹ใƒณ้…ธ๏ผˆhomovanillic acid๏ผšHVA๏ผ‰ๅŠใณใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใ‚คใƒณใƒ‰ใƒผใƒซ้…ข้…ธ๏ผˆ5-hydroxyindolacetic acid๏ผš5-HIAA๏ผ‰ใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎ็„กใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200988
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/323-201704-kojin.pdf
+ rdfs:label + "Aromatic L-amino acid decarboxylase deficiency" + @en
+ rdfs:label + "ใปใ†ใ“ใ†ใžใใˆใ‚‹ใ‚ใฟใฎใ•ใ‚“ใ ใคใŸใ‚“ใ•ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200596
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6353
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01161
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156602.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5446
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012084
+ skos:prefLabel + "่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200989 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber324
+ dcterms:description + "ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’ๆฅใ™็–พๆ‚ฃใ‚’็ทใ˜ใฆใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใฆใŠใ‚Šใ€็•ฐ่ณชๆ€งใŒ้ซ˜ใใ€็พๅœจ๏ผ•ใคใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ใฏใ€ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผใฏใƒญใ‚คใ‚ทใƒณไปฃ่ฌใฎ๏ผ•ๆฎต้šŽ็›ฎใซไฝ็ฝฎใ—ใ€Iๅž‹ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚IIๅž‹ใฏBarth็—‡ๅ€™็พคใ€IIIๅž‹ใฏCosteff็—‡ๅ€™็พคใซใ‚ใŸใ‚‹๏ผˆใใ‚Œใžใ‚ŒX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€‚ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’่ชใ‚ใชใŒใ‚‰ใ€Iใ€IIใ€IIIๅž‹ใซใ‚ใŸใ‚‰ใชใ„ใ‚‚ใฎใŒIVๅž‹ใจใ•ใ‚Œใ€็จฎใ€…ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธ็—‡ใŒIVๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใจๅฐ่„ณๅคฑ่ชฟใ‚’ไผดใ†็–พๆ‚ฃ็พค๏ผˆDCMA็—‡ๅ€™็พค๏ผ‰ใŒVๅž‹ใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ๏ผˆIVๅž‹ใ€Vๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจใ—ใฆๆ‰ฑใ†ใ€‚๏ผ‰ใ€‚" + @ja
+ dcterms:identifierNANDO:1200989
+ rdfs:label + "Methylglutaconic aciduria" + @en
+ rdfs:label + "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200496
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017359
+ skos:prefLabel + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200990 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber324
+ dcterms:identifierNANDO:1200990
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/324-01-201704-kojin.pdf
+ rdfs:label + "3-methylglutaconic aciduria type I" + @en
+ rdfs:label + "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2595
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200989
+ skos:altLabel + "3-methylglutaconyl-CoA hydratase deficiency" + @en
+ skos:altLabel + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009610
+ skos:prefLabel + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200991 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber324
+ dcterms:identifierNANDO:1200991
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/324-02-201704-kojin.pdf
+ rdfs:label + "3-methylglutaconicaciduria type II" + @en
+ rdfs:label + "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3355
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200989
+ skos:altLabel + "Barth syndrome" + @en
+ skos:altLabel + "Barth็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010543
+ skos:prefLabel + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200992 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber324
+ dcterms:identifierNANDO:1200992
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/324-03-201704-kojin.pdf
+ rdfs:label + "3-methylglutaconic aciduria type III" + @en
+ rdfs:label + "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2774
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156604.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5449
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200989
+ skos:altLabel + "Costeff syndrome" + @en
+ skos:altLabel + "Costeff็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009787
+ skos:prefLabel + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200993 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber325
+ dcterms:description + "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฏใ€่‡ช็„ถๅ…็–ซ็ณปใซ้–ขใ‚ใ‚‹้บไผๅญ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใ€็”Ÿๆถฏใซใ‚ใŸใ‚ŠๆŒ็ถšใ™ใ‚‹็‚Ž็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆˆไบบๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹็–พ็—…ใฎใ†ใกใ€ๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พคใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€้ซ˜IgD็—‡ๅ€™็พคใ€ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พคใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ‚’้™คใ„ใŸใ€NLRC๏ผ”็•ฐๅธธ็—‡ใ€ADA๏ผ’๏ผˆAdenosine deaminase ๏ผ’๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค๏ผˆAicardi-Goutiรจresใ€€Syndrome๏ผšAGS๏ผ‰ใ€A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ADA๏ผ’ๆฌ ๆ็—‡ใงใฏใ€ไธปใซไธญๅ‹•่„ˆใซ็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใซ้กžไผผใ—ใŸๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พคใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ‚ใ‚Šใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใฏใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชA20ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅๅพฉๆ€งๅฃ่…”ๅ†…ใ‚ขใƒ•ใ‚ฟใ€็™บ็†ฑใ€้–ข็ฏ€็—›ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜็ญ‰ใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…้กžไผผ็—‡็Šถใ‚’่‹ฅๅนดใง็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200993
+ rdfs:label + "Hereditary autoinflammatory syndrome" + @en
+ rdfs:label + "ใ„ใงใ‚“ใ›ใ„ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100004
+ skos:altLabel + "hereditary autoinflammatory diseases" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019751
+ skos:prefLabel + "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200994 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber325
+ dcterms:identifierNANDO:1200994
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-01-201804-kojin.pdf
+ rdfs:label + "NLRC4 mutation" + @en
+ rdfs:label + "NLRC๏ผ”็•ฐๅธธ็—‡" + @ja
+ rdfs:label + "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใ—ใƒผ4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200459
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200993
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014472
+ skos:prefLabel + "NLRC๏ผ”็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200995 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber325
+ dcterms:identifierNANDO:1200995
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-02-201804-kojin.pdf
+ rdfs:label + "ADA2ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Adenosine deaminase 2 deficiency" + @en
+ rdfs:label + "ใˆใƒผใงใƒใƒผใˆใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200441
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200993
+ skos:prefLabel + "ADA2ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200996 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber325
+ dcterms:identifierNANDO:1200996
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-03-201804-kojin.pdf
+ rdfs:label + "Aicardi-Goutiรจres Syndrome" + @en
+ rdfs:label + "ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200893
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00290
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200993
+ skos:altLabel + "AGS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018866
+ skos:prefLabel + "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200997 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber325
+ dcterms:identifierNANDO:1200997
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/325-04-201804-kojin.pdf
+ rdfs:label + "A20 haploinsufficiency" + @en
+ rdfs:label + "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" + @ja
+ rdfs:label + "ใˆใƒผ20ใฏใทใ‚ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200458
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198089.doc
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5407
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200993
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100222
+ skos:prefLabel + "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200998 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber326
+ dcterms:description + "ๅคง็†็Ÿณ้ชจ็—…ใฏใ€็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚‹้ชจๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็ ด้ชจ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ใฏๅคš็›ธใงใ‚ใ‚‹ใŸใ‚ใ€้บไผ็š„็•ฐ่ณชๆ€งใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€็—‡็Šถใ‚‚ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹๏ผไนณๅ…ๅž‹ใ€ไธญ็ญ‰ๅบฆใฎไธญ้–“ๅž‹ใ€่ปฝ็—‡ใฎ้…็™บๅž‹ใพใงๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ๆœช็†Ÿ้ชจ๏ผˆไธ€ๆฌก้ชจๆข๏ผ‰ใฎๆˆ็†Ÿ้ชจ๏ผˆ็ทปๅฏ†้ชจ๏ผ‰ใธใฎ็ฝฎๆ›ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœใ€ๆœช็†Ÿ้ชจใง่ฆ†ใ„ๅฐฝใใ•ใ‚ŒใŸ้ชจใฏ็กฌๅŒ–ใ—ใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่„†ใ„ใ€‚ใพใŸใ€้Žๅ‰ฐใชๆœช็†Ÿ้ชจใฏ้ชจ้ซ„่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€้ชจ้ซ„ๆฉŸ่ƒฝไธๅ…จ๏ผˆ่ฒง่ก€ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่‚่„พ่…ซใชใฉ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ญ่“‹ๅบ•ใฎ้ชจ่‚ฅๅŽšใซใ‚ˆใ‚‹่„ณ็ฅž็ตŒ็—‡็Šถ๏ผˆ้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€้ก”้ข็ฅž็ตŒ้บป็—บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200998
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/326-201704-kojin.pdf
+ rdfs:label + "Osteopetrosis" + @en
+ rdfs:label + "ใ ใ„ใ‚Šใ›ใใ“ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคง็†็Ÿณ้ชจ็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201013
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00436
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156606.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5392
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017198
+ skos:prefLabel + "ๅคง็†็Ÿณ้ชจ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1200999 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber327
+ dcterms:description + "็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1200999
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/327-201704-kojin.pdf
+ rdfs:label + "Idiopathic thrombosis (due to inherited predisposition to thrombosis) (neonates, infants)" + @en
+ rdfs:label + "ใจใใฏใคใ›ใ„ใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง่ก€ๆ “็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156608.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5419
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100006
+ skos:prefLabel + "็‰น็™บๆ€ง่ก€ๆ “็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201000 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber328
+ dcterms:description + "ๅ‰็œผ้ƒจใฎ็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๆ€งใซ่ง’่†œๆททๆฟใ‚’ๆฅใ—ใ€่ฆ–ๅŠ›้šœๅฎณใ€่ฆ–ๆฉŸ่ƒฝ็™บ้”็•ฐๅธธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1201000
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/328-201704-kojin.pdf
+ rdfs:label + "Anterior segment dysgenesis" + @en
+ rdfs:label + "ใœใ‚“ใŒใ‚“ใถใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01159
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198090.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5455
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100011
+ skos:altLabel + "ASGD1" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019503
+ skos:prefLabel + "ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201001 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber329
+ dcterms:description + "็„ก่™นๅฝฉ็—‡ใฏ่™นๅฝฉใŒๅฎŒๅ…จใพใŸใฏไธๅฎŒๅ…จใซๆฌ ๆใ—ใฆใ„ใ‚‹ใ“ใจใง่ฆ‹ๅ‡บใ•ใ‚Œใ‚‹้บไผๆ€ง็–พ็—…ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚่ฒฌไปป้บไผๅญใฏPAX6้บไผๅญใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰ไธก็œผๆ€งใฎๅผทใ„่ฆ–ๅŠ›ไธ่‰ฏใ‚’่ชใ‚ใ€ๅคงๅŠใŒ่ฆ–่ฆš้šœๅฎณๅ…ใจใชใ‚‹ใ€‚ๆœฌ็–พ็—…ใฎ็™บ็—‡้ ปๅบฆใฏ10ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏใชใ„ใ€‚ๆ‚ฃ่€…ใฎ๏ผ˜ๅ‰ฒ็จ‹ๅบฆใŒๅฎถๆ—ๆ€งใซ็™บ็—‡ใ—ใฆใŠใ‚Šใ€ๆฎ‹ใ‚‹๏ผ’ๅ‰ฒใฏๆ•ฃ็™บๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1201001
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/329-201804-kojin.pdf
+ rdfs:label + "Aniridia" + @en
+ rdfs:label + "ใ‚€ใ“ใ†ใ•ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็„ก่™นๅฝฉ็—‡" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00635
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198092.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5452
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100011
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019172
+ skos:prefLabel + "็„ก่™นๅฝฉ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201002 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber330
+ dcterms:description + "ๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅ–‰้ ญ๏ผ‰ใจไธ‹ๆฐ—้“๏ผˆๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏๅฃฐ้–€ไธ‹่…”ใ‚„ๆฐ—็ฎกใซๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ใ‚„ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚ๅคšใใŒๆ•‘ๅ‘ฝใฎใŸใ‚็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใฏ้™คใใ€‚" + @ja
+ dcterms:identifierNANDO:1201002
+ rdfs:label + "Congenital tracheal stenosis/Congenital Subglottic Stenosis" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†๏ผใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198093.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5422
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100010
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201003 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber330
+ dcterms:identifierNANDO:1201003
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/330-01-201804-kojin.pdf
+ rdfs:label + "Congenital tracheal stenosis" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4159
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198093.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5422
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1201002
+ skos:altLabel + "CTS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011340
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201004 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber330
+ dcterms:identifierNANDO:1201004
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/330-02-201804-kojin.pdf
+ rdfs:label + "Congenital Subglottic Stenosis" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198093.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5422
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1201002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015395
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201005 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber331
+ dcterms:description + "ใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ๏ผŒใƒชใƒณใƒ‘็ฏ€ใฎ็—…็†็ต„็น”ๅƒใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅคšใ‚ฏใƒญใƒผใƒณๆ€งใฎใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็—…ๅค‰ใŒ1ใคใฎ้ ˜ๅŸŸใซ้™ๅฑ€ใ™ใ‚‹ๅ˜ไธญๅฟƒๆ€ง๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใจ๏ผŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซๅบƒใŒใ‚‹ๅคšไธญๅฟƒๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚‰ใฏ่‡จๅบŠๅƒใ‚„ๆฒป็™‚ๆณ•ใŒๅคงใใ็•ฐใชใ‚‹ใ€‚ๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฎใ†ใกใ€ใƒ’ใƒˆใƒปใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผ˜ๅž‹ๆ„ŸๆŸ“ใŒใฟใ‚‰ใ‚Œใชใ„ๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใŒ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใจใ—ใฆๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใฆๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ้ซ˜ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณ๏ผ–่ก€็—‡ใซใ‚ˆใ‚‹็™บ็†ฑใ‚„ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€่ฒง่ก€ใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšใใฎๅ ดๅˆใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1201005
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/331-201804-kojin.pdf
+ rdfs:label + "Idiopathic multicentric Castleman's disease" + @en
+ rdfs:label + "ใจใใฏใคใ›ใ„ใŸใกใ‚…ใ†ใ—ใ‚“ใ›ใ„ใใ‚ƒใฃใ™ใ‚‹ใพใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198086.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5749
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100006
+ skos:prefLabel + "็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201006 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber332
+ dcterms:description + "่ง’่†œๅฎŸ่ณชใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็œผ็—›ใชใฉใฎไธๅฟซๆ„Ÿใจใจใ‚‚ใซ่‘—ๆ˜Žใช่ฆ–ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบๅ”†ใ™ใ‚‹ๅฎถๆ—ๆญด(ๅ…„ๅผŸๅง‰ๅฆน้–“ใฎๅฎถ็ณปๅ†…็™บ็—‡ใ€ไธก่ฆชใฎ่ก€ๆ—ๅฉšใชใฉ)ใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ€TACSTD2้บไผๅญใฎไธกใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๆ€งๅค‰็•ฐใซใ‚ˆใ‚‹่ง’่†œไธŠ็šฎใƒใƒชใ‚ขๆฉŸ่ƒฝใฎ็ ด็ถปใŒๅŽŸๅ› ใจใ•ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:1201006
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/332-201806-kojin.pdf
+ rdfs:label + "Gelatinous drop-like corneal dystrophy" + @en
+ rdfs:label + "ใ“ใ†ใ‚ˆใ†ใฆใใ˜ใ‚‡ใ†ใ‹ใใพใใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1747
+ rdfs:seeAlsohttps://www.mhlw.go.jp/content/10900000/000522592.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/6016
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100011
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008777
+ skos:prefLabel + "่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201007 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber333
+ dcterms:description + "้บไผๆ€งๆ—ฉ่€็—‡ใฎไธญใงๆœ€ใ‚‚็—‡็ŠถใŒ้‡็ฏคใช็–พๆ‚ฃใ€‚็”ŸๅพŒๅŠๅนดใ‹ใ‚‰๏ผ’ๅนดใงๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽๅŠใณๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณๅŠใณๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ14.6ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้›ฃ็—…็ ”็ฉถ็ญใฎๅ…จๅ›ฝ่ชฟๆŸปใง็ด„10ไบบใฎๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚ŒใฆใŠใ‚Šใ€ๆˆไบบไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ๅ›ฝๅ†…ใง20ๆญณใ‚’่ถ…ใˆใŸ็”Ÿๅญ˜ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบๆœŸใฎๅˆไฝต็—‡ใง้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใจใ—ใฆใฏใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃๅŠใณๅคš้‡ใŒใ‚“ใŒใ‚ใ‚Šใ€็‰นใซ่„ณ่ก€็ฎก้šœๅฎณใซใคใ„ใฆใฏ็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ™ใ‚‹ใจใ„ใ†็‰นๅพดใ‚’ๆŒใคใ€‚" + @ja
+ dcterms:identifierNANDO:1201007
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/333-201806-kojin.pdf
+ rdfs:label + "Hutchinson-Gilford syndrome" + @en
+ rdfs:label + "ใฏใฃใกใ‚“ใใ‚“ใƒปใŽใ‚‹ใตใ‰ใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200833
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1290
@@ -78038,30 +93741,27705 @@

rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/6013https://www.nanbyou.or.jp/entry/6013
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1100014
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008310
+ skos:prefLabel + "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201008 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber44
+ dcterms:identifierNANDO:1201008
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/044-201704-kojin.pdf
+ rdfs:label + "Limited form of granulomatosis with polyangiitis" + @en
+ rdfs:label + "ใ’ใ‚“ใใ‚‡ใใŒใŸใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้™ๅฑ€ๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9435
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198052.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4011
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200263
+ skos:altLabel + "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆ้™ๅฑ€ๅž‹๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012105
+ skos:prefLabel + "้™ๅฑ€ๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201009 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber44
+ dcterms:identifierNANDO:1201009
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/044-201704-kojin.pdf
+ rdfs:label + "Systemic granulomatosis with polyangiitis" + @en
+ rdfs:label + "ใœใ‚“ใ—ใ‚“ใŒใŸใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…จ่บซๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9435
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000198052.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4011
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200263
+ skos:altLabel + "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆๅ…จ่บซๅž‹๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012105
+ skos:prefLabel + "ๅ…จ่บซๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201010 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber51
+ dcterms:identifierNANDO:1201010
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/051-201704-kojin.pdf
+ rdfs:label + "Diffuse cutaneous systemic sclerosis" + @en
+ rdfs:label + "ใณใพใ‚“ใฒใตใ“ใ†ใ‹ใŒใŸใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157796.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4026
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200277
+ skos:altLabel + "dcSSc" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016356
+ skos:prefLabel + "ใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201011 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber51
+ dcterms:identifierNANDO:1201011
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/051-201704-kojin.pdf
+ rdfs:label + "Limited cutaneous systemic sclerosis" + @en
+ rdfs:label + "ใ’ใ‚“ใใ‚‡ใใฒใตใ“ใ†ใ‹ใŒใŸใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157796.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4026
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200277
+ skos:altLabel + "lcSSc" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016358
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019563
+ skos:prefLabel + "้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201012 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber54
+ dcterms:identifierNANDO:1201012
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/054-201704-kojin.pdf
+ rdfs:label + "Monocyclic Adult onset Still's disease" + @en
+ rdfs:label + "ใŸใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ˜ๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157811.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/132
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200282
+ skos:altLabel + "monocyclic AOSD" + @en
+ skos:altLabel + "ๆˆไบบใ‚นใƒใƒซ็—…๏ผˆ่‡ช็„ถๅฏ›่งฃใ‚’็คบใ™ใ‚‚ใฎ๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019355
+ skos:prefLabel + "ๅ˜ๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201013 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber54
+ dcterms:identifierNANDO:1201013
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/054-201704-kojin.pdf
+ rdfs:label + "Polycyclic Adult onset Still's disease" + @en
+ rdfs:label + "ใŸใ—ใ‚…ใ†ใใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคšๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157811.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/132
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200282
+ skos:altLabel + "polycyclic AOSD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019355
+ skos:prefLabel + "ๅคšๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201014 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber54
+ dcterms:identifierNANDO:1201014
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/054-201704-kojin.pdf
+ rdfs:label + "Chronic articular Adult onset Still's disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง้–ข็ฏ€ๅž‹ๆˆไบบใ‚นใƒใƒซ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157811.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/132
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200282
+ skos:prefLabel + "ๆ…ขๆ€ง้–ข็ฏ€ๅž‹ๆˆไบบใ‚นใƒใƒซ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201015 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber56
+ dcterms:identifierNANDO:1201015
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/056-201704-kojin.pdf
+ rdfs:label + "Vascular Behรงet's Disease" + @en
+ rdfs:label + "ใ‘ใฃใ‹ใ‚“ใŒใŸในใƒผใกใ‡ใฃใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157765.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/187
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200284
+ skos:altLabel + "่ก€็ฎกใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ skos:altLabel + "่ก€็ฎกๅž‹Behรงet็—…" + @ja
+ skos:prefLabel + "่ก€็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201016 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber56
+ dcterms:identifierNANDO:1201016
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/056-201704-kojin.pdf
+ rdfs:label + "Intestinal Behรงet's Disease" + @en
+ rdfs:label + "ใกใ‚‡ใ†ใ‹ใ‚“ใŒใŸในใƒผใกใ‡ใฃใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…ธ็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157765.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/187
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200284
+ skos:altLabel + "่…ธ็ฎกใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ skos:altLabel + "่…ธ็ฎกๅž‹Behรงet็—…" + @ja
+ skos:prefLabel + "่…ธ็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201017 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber56
+ dcterms:identifierNANDO:1201017
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/056-201704-kojin.pdf
+ rdfs:label + "Neuro-Behรงet's Disease" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157765.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/187
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200284
+ skos:altLabel + "็ฅž็ตŒBehรงet็—…" + @ja
+ skos:altLabel + "็ฅž็ตŒๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ skos:prefLabel + "็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201018 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber257
+ dcterms:identifierNANDO:1201018
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
+ rdfs:label + "Hepatic Glycogen storage disease type I" + @en
+ rdfs:label + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…Iๅž‹" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200839
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002413
+ skos:prefLabel + "่‚ๅž‹็ณ–ๅŽŸ็—…Iๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201019 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber257
+ dcterms:identifierNANDO:1201019
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
+ rdfs:label + "Hepatic Glycogen storage disease type III" + @en
+ rdfs:label + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200839
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291
+ skos:prefLabel + "่‚ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201020 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber257
+ dcterms:identifierNANDO:1201020
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/257-01-201704-kojin.pdf
+ rdfs:label + "Hepatic Glycogen storage disease type IX" + @en
+ rdfs:label + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IXๅž‹" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157162.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5329
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200839
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018251
+ skos:prefLabel + "่‚ๅž‹็ณ–ๅŽŸ็—…IXๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201021 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber299
+ dcterms:identifierNANDO:1201021
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/299-201704-kojin.pdf
+ rdfs:label + "Cystic fibrosis" + @en
+ rdfs:label + "ใฒใฎใ†ใปใ†ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่†ตๅ›Š่ƒž็ทš็ถญ็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2041
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157963.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4532
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200922
+ skos:altLabel + "CF" + @en
+ skos:altLabel + "Pancreatic cystic fibrosis" + @en
+ skos:altLabel + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009061
+ skos:prefLabel + "่†ตๅ›Š่ƒž็ทš็ถญ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201022 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber310
+ dcterms:identifierNANDO:1201022
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/310-01-201704-kojin.pdf
+ rdfs:label + "Micro-deletion syndrome and other syndromes" + @en
+ rdfs:label + "ใณใ•ใ„ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใจใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1201023
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000156565.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/5501
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200957
+ skos:prefLabel + "ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201023 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:1201023
+ rdfs:label + "obsolete Micro-deletion syndrome and other syndromes" + @en
+ rdfs:label + "obsolete ใณใ•ใ„ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใจใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "obsolete ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค" + @ja
+ rdfs:subClassofhttp://nanbyodata.jp/ontology/NANDO_0000002
+ owl:deprecated + "true" + + xsd:boolean +
+ skos:prefLabel + "obsolete ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201024 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber14
+ dcterms:identifierNANDO:1201024
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/014-201704-kojin.pdf
+ rdfs:label + "Monophasic chronic inflammatory demyelinating polyneuropathy" + @en
+ rdfs:label + "ใŸใ‚“ใใ†ใŒใŸใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅ˜็›ธๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157814.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4089
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200030
+ skos:prefLabel + "ๅ˜็›ธๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201025 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber14
+ dcterms:identifierNANDO:1201025
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/014-201704-kojin.pdf
+ rdfs:label + "Multifocal chronic inflammatory demyelinating polyneuropathy" + @en
+ rdfs:label + "ใŸใใ†ใ›ใ„ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš็›ธๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157814.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4089
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200030
+ skos:altLabel + "ๅ†็™บๅฏ›่งฃๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ skos:prefLabel + "ๅคš็›ธๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201026 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber14
+ dcterms:identifierNANDO:1201026
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/014-201704-kojin.pdf
+ rdfs:label + "Chronic progressive chronic inflammatory demyelinating polyneuropathy" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใ›ใ„ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157814.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4089
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200030
+ skos:prefLabel + "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201027 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber56
+ dcterms:identifierNANDO:1201027
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/056-201704-kojin.pdf
+ rdfs:label + "Chronic progressive Neuro-Behรงet's disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=165
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157765.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/187
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1201017
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007191
+ skos:prefLabel + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201028 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber56
+ dcterms:identifierNANDO:1201028
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/056-201704-kojin.pdf
+ rdfs:label + "Acute Neuro-Behรงet's disease" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใŒใŸใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157765.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/187
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1201017
+ skos:altLabel + "acute NB" + @en
+ skos:prefLabel + "ๆ€ฅๆ€งๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201029 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber223
+ dcterms:identifierNANDO:1201029
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
+ rdfs:label + "Mesangial proliferative glomerulonephritis" + @en
+ rdfs:label + "ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200122
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200726
+ skos:altLabel + "MesPGN" + @en
+ skos:altLabel + "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง่…Ž็‚Žๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003139
+ skos:prefLabel + "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201030 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber223
+ dcterms:identifierNANDO:1201030
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
+ rdfs:label + "Chronic diffuse membranoproliferative glomerulonephritis type I" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8283
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200726
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014005
+ skos:prefLabel + "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_1201031 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber223
+ dcterms:identifierNANDO:1201031
+ dcterms:sourcehttps://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/223-201704-kojin.pdf
+ rdfs:label + "Acute diffuse membranoproliferative glomerulonephritis type I" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ rdfs:seeAlsohttps://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157126.docx
+ rdfs:seeAlsohttps://www.nanbyou.or.jp/entry/4423
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_1200726
+ skos:prefLabel + "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2000001 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2000001
+ rdfs:label + "Specific pediatric chronic disease" + @en
+ rdfs:label + "ใ—ใ‚‡ใ†ใซใพใ‚“ใ›ใ„ใจใใฆใ„ใ—ใฃใบใ„" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_0000001
+ skos:prefLabel + "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100001 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100001
+ rdfs:label + "Malignant neoplasms" + @en
+ rdfs:label + "ใ‚ใใ›ใ„ใ—ใ‚“ใ›ใ„ใถใค" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:prefLabel + "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100002 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100002
+ rdfs:label + "Leukemia" + @en
+ rdfs:label + "ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™ฝ่ก€็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100001
+ skos:altLabel + "Leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004355
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005059
+ skos:prefLabel + "็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100003 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100003
+ rdfs:label + "Myelodysplastic syndrome" + @en
+ rdfs:label + "ใ“ใคใšใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200019
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_02_017/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100001
+ skos:altLabel + "MDS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018881
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044873
+ skos:prefLabel + "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100004 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100004
+ rdfs:label + "Lymphoma" + @en
+ rdfs:label + "ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003659
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003660
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005062
+ skos:prefLabel + "ใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100005 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100005
+ rdfs:label + "Histiocytosis" + @en
+ rdfs:label + "ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ต„็น”็ƒ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002637
+ skos:prefLabel + "็ต„็น”็ƒ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100006 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100006
+ rdfs:label + "Solid tumor (excluding solid tumour of the central nervous system)" + @en
+ rdfs:label + "ใ“ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†ใ‚’ใฎใžใใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100001
+ skos:prefLabel + "ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100007 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100007
+ rdfs:label + "Central nervous system tumors" + @en
+ rdfs:label + "ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100001
+ skos:altLabel + "CNS tumors" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002714
+ skos:prefLabel + "ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100008 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100008
+ rdfs:label + "Chronic kidney disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:altLabel + "CKD" + @en
+ skos:altLabel + "ๆ…ขๆ€ง่…Ž่‡“็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005300
+ skos:prefLabel + "ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100009 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100009
+ rdfs:label + "Nephrotic syndrome" + @en
+ rdfs:label + "ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01657
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005377
+ skos:prefLabel + "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100010 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100010
+ rdfs:label + "Chronic glomerulonephritis" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100011 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100011
+ rdfs:label + "Chronic tubulointerstitial nephritis (excluding urinary tract malformation)" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใซใ‚‡ใ†ใ‚ใใ‘ใ„ใŒใ’ใ‚“ใ„ใ‚“ใฎใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100012 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100012
+ rdfs:label + "Chronic pyelonephritis" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ†ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200137
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001110
+ skos:prefLabel + "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100013 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100013
+ rdfs:label + "Amyloid nephropathy" + @en
+ rdfs:label + "ใ‚ใฟใ‚ใ„ใฉใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200138
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100014 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100014
+ rdfs:label + "Familial juvenile hyperuricemic nephropathy" + @en
+ rdfs:label + "ใ‹ใžใใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใ†ใซใ‚‡ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200139
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_06_025/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "FJHN" + @en
+ skos:altLabel + "Familial juvenile hyperuricaemic nephropathy" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000608
+ skos:prefLabel + "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100015 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100015
+ rdfs:label + "Nephronophthisis" + @en
+ rdfs:label + "ใญใตใ‚ใ‚“ใ‚ใ†" + @ja-Hira
+ rdfs:label + "ใƒใƒ•ใƒญใƒณ็™†" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200140
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_07_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "NPH" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019005
+ skos:prefLabel + "ใƒใƒ•ใƒญใƒณ็™†" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100016 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100016
+ rdfs:label + "Renovascular hypertension" + @en
+ rdfs:label + "ใ˜ใ‚“ใ‘ใฃใ‹ใ‚“ใ›ใ„ใ“ใ†ใ‘ใคใ‚ใค" + @ja-Hira
+ rdfs:label + "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200141
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006947
+ skos:prefLabel + "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100017 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100017
+ rdfs:label + "Renal vein thrombosis" + @en
+ rdfs:label + "ใ˜ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…Ž้™่„ˆ่ก€ๆ “็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200142
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "่…Ž้™่„ˆ่ก€ๆ “็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100018 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100018
+ rdfs:label + "Renal arteriovenous fistula" + @en
+ rdfs:label + "ใ˜ใ‚“ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ†" + @ja-Hira
+ rdfs:label + "่…Žๅ‹•้™่„ˆ็˜ป" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200143
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "่…Žๅ‹•้™่„ˆ็˜ป" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100019 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100019
+ rdfs:label + "Renal tubular acidosis" + @en
+ rdfs:label + "ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ›ใ„ใ‚ใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200144
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_11_030/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "RTA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001909
+ skos:prefLabel + "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100020 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100020
+ rdfs:label + "Gitelman syndrome" + @en
+ rdfs:label + "ใŽใฃใฆใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200145
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2891
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00240
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "Gitelman็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009904
+ skos:prefLabel + "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100021 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100021
+ rdfs:label + "Bartter syndrome" + @en
+ rdfs:label + "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200146
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "Bartter็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015231
+ skos:prefLabel + "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100022 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100022
+ rdfs:label + "Nephro- and urolithiasis" + @en
+ rdfs:label + "ใ˜ใ‚“ใซใ‚‡ใ†ใ‹ใ‚“ใ‘ใฃใ›ใ" + @ja-Hira
+ rdfs:label + "่…Žๅฐฟ็ฎก็ต็Ÿณ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200147
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "Nephro-urolithiasis" + @en
+ skos:prefLabel + "่…Žๅฐฟ็ฎก็ต็Ÿณ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100023 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100023
+ rdfs:label + "Chronic renal failure" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Žไธๅ…จ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005300
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024327
+ skos:prefLabel + "ๆ…ขๆ€ง่…Žไธๅ…จ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100024 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100024
+ rdfs:label + "Renal malformation" + @en
+ rdfs:label + "ใ˜ใ‚“ใใ‘ใ„" + @ja-Hira
+ rdfs:label + "่…Žๅฅ‡ๅฝข" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "่…Žๅฅ‡ๅฝข" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100025 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100025
+ rdfs:label + "Urinary tract malformation" + @en
+ rdfs:label + "ใซใ‚‡ใ†ใ‚ใใ‘ใ„" + @ja-Hira
+ rdfs:label + "ๅฐฟ่ทฏๅฅ‡ๅฝข" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "ๅฐฟ่ทฏๅฅ‡ๅฝข" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100026 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100026
+ rdfs:label + "Atrophic kidney (excluding urinary tract malformation)" + @en
+ rdfs:label + "ใ„ใ—ใ‚…ใใ˜ใ‚“๏ผˆใซใ‚‡ใ†ใ‚ใใ‘ใ„ใŒใ’ใ‚“ใ„ใ‚“ใฎใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:prefLabel + "่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100027 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100027
+ rdfs:label + "Fanconi syndrome" + @en
+ rdfs:label + "ใตใใ‚“ใ“ใƒผใซใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200187
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "Fanconi็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001083
+ skos:prefLabel + "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100028 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100028
+ rdfs:label + "Lowe syndrome" + @en
+ rdfs:label + "ใ‚ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒญใ‚ฆ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200188
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3469
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100008
+ skos:altLabel + "Lowe็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010645
+ skos:prefLabel + "ใƒญใ‚ฆ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100029 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100029
+ rdfs:label + "Chronic respiratory disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ“ใใ‚…ใ†ใใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:prefLabel + "ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100030 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100030
+ rdfs:label + "Airway obstruction and stenosis" + @en
+ rdfs:label + "ใใฉใ†ใใ‚‡ใ†ใ•ใ" + @ja-Hira
+ rdfs:label + "ๆฐ—้“็‹ญ็ช„" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200189
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:prefLabel + "ๆฐ—้“็‹ญ็ช„" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100031 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100031
+ rdfs:label + "Bronchial asthma" + @en
+ rdfs:label + "ใใ‹ใ‚“ใ—ใœใ‚“ใใ" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200197
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3765
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010940
+ skos:prefLabel + "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100032 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100032
+ rdfs:label + "Congenital central hypoventilation syndrome" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200198
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1824
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_03_003/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:altLabel + "CCHS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008852
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100033 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100033
+ rdfs:label + "Interstitial pneumonia" + @en
+ rdfs:label + "ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:prefLabel + "้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100034 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100034
+ rdfs:label + "Primary ciliary dyskinesia" + @en
+ rdfs:label + "ใ›ใ‚“ใ‚‚ใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200203
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00564
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016575
+ skos:prefLabel + "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100035 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100035
+ rdfs:label + "Cystic fibrosis" + @en
+ rdfs:label + "ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200205
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2041
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_06_008/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:altLabel + "CF" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009061
+ skos:prefLabel + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100036 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100036
+ rdfs:label + "Bronchiectasis" + @en
+ rdfs:label + "ใใ‹ใ‚“ใ—ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200206
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_07_009/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:altLabel + "BE" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004822
+ skos:prefLabel + "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100037 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100037
+ rdfs:label + "Idiopathic pulmonary hemosiderosis" + @en
+ rdfs:label + "ใจใใฏใคใ›ใ„ใฏใ„ใธใ‚‚ใ˜ใงใ‚ใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200207
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1326
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:altLabel + "Idiopathic pulmonary haemosiderosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008346
+ skos:prefLabel + "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100038 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100038
+ rdfs:label + "Chronic lung disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200208
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:prefLabel + "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100039 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100039
+ rdfs:label + "Bronchiolitis obliterans" + @en
+ rdfs:label + "ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200209
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_10_012/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:altLabel + "BO" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015265
+ skos:prefLabel + "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100040 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100040
+ rdfs:label + "Congenital diaphragmatic hernia" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200210
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_11_013/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:altLabel + "CDH" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005711
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100041 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100041
+ rdfs:label + "Congenital cystic lung disease" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200211
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100029
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100042 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100042
+ rdfs:label + "Chronic heart disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:prefLabel + "ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100043 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100043
+ rdfs:label + "Sick sinus syndrome" + @en
+ rdfs:label + "ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆดžไธๅ…จ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200212
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_01_001/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "SSS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001823
+ skos:prefLabel + "ๆดžไธๅ…จ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100044 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100044
+ rdfs:label + "Mobitz type II second degree atrioventricular block" + @en
+ rdfs:label + "ใ‚‚ใณใฃใค๏ผ’ใŒใŸใถใ‚ใฃใ" + @ja-Hira
+ rdfs:label + "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200213
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_02_002/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "Mobitz2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ " + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001261
+ skos:prefLabel + "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100045 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100045
+ rdfs:label + "Complete atrio-ventricular block" + @en
+ rdfs:label + "ใ‹ใ‚“ใœใ‚“ใผใ†ใ—ใคใถใ‚ใฃใ" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200214
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_03_003/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100046 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100046
+ rdfs:label + "Bundle branch block" + @en
+ rdfs:label + "ใใ‚ƒใใถใ‚ใฃใ" + @ja-Hira
+ rdfs:label + "่„šใƒ–ใƒญใƒƒใ‚ฏ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200215
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_04_004/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020803
+ skos:prefLabel + "่„šใƒ–ใƒญใƒƒใ‚ฏ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100047 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100047
+ rdfs:label + "Polymorphic ventricular premature beat" + @en
+ rdfs:label + "ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใ—ใคใใŒใ„ใ—ใ‚…ใ†ใ—ใ‚…ใ" + @ja-Hira
+ rdfs:label + "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200216
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100048 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100048
+ rdfs:label + "Supraventricular tachycardia" + @en
+ rdfs:label + "ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira
+ rdfs:label + "ไธŠๅฎค้ ปๆ‹" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ไธŠๅฎค้ ปๆ‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100049 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100049
+ rdfs:label + "Ventricular tachycardia" + @en
+ rdfs:label + "ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎค้ ปๆ‹" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005477
+ skos:prefLabel + "ๅฟƒๅฎค้ ปๆ‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100050 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100050
+ rdfs:label + "Atrial flutter" + @en
+ rdfs:label + "ใ—ใ‚“ใผใ†ใใฉใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๆˆฟ็ฒ—ๅ‹•" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200225
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005310
+ skos:prefLabel + "ๅฟƒๆˆฟ็ฒ—ๅ‹•" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100051 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100051
+ rdfs:label + "Atrial fibrillation" + @en
+ rdfs:label + "ใ—ใ‚“ใผใ†ใ•ใ„ใฉใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๆˆฟ็ดฐๅ‹•" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200226
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_09_013/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "AF" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004981
+ skos:prefLabel + "ๅฟƒๆˆฟ็ดฐๅ‹•" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100052 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100052
+ rdfs:label + "Ventricular fibrillation" + @en
+ rdfs:label + "ใ—ใ‚“ใ—ใคใ•ใ„ใฉใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎค็ดฐๅ‹•" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200227
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000190
+ skos:prefLabel + "ๅฟƒๅฎค็ดฐๅ‹•" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100053 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100053
+ rdfs:label + "Long QT syndrome" + @en
+ rdfs:label + "QTๅปถ้•ท็—‡ๅ€™็พค" + @ja
+ rdfs:label + "ใใ‚…ใƒผใฆใƒใƒผใˆใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200228
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00720
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002442
+ skos:prefLabel + "QTๅปถ้•ท็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100054 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100054
+ rdfs:label + "Hypertrophic cardiomyopathy" + @en
+ rdfs:label + "ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200229
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_12_016/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "HCM" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005045
+ skos:prefLabel + "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100055 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100055
+ rdfs:label + "Arrhythmogenic right ventricular cardiomyopathy or dysplasia" + @en
+ rdfs:label + "ใตใ›ใ„ใฟใ‚ƒใใ’ใ‚“ใ›ใ„ใ†ใ—ใคใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200230
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_13_017/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016587
+ skos:prefLabel + "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100056 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100056
+ rdfs:label + "Non-compaction of the ventricle" + @en
+ rdfs:label + "ใ—ใ‚“ใใ‚“ใกใฟใคใ‹ใ—ใ‚‡ใ†ใŒใ„" + @ja-Hira
+ rdfs:label + "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200231
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100057 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100057
+ rdfs:label + "Dilated cardiomyopathy" + @en
+ rdfs:label + "ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200232
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_15_019/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "DCM" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005021
+ skos:prefLabel + "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100058 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100058
+ rdfs:label + "Restrictive cardiomyopathy" + @en
+ rdfs:label + "ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200233
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005201
+ skos:prefLabel + "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100059 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100059
+ rdfs:label + "Aneurysm of ventricle" + @en
+ rdfs:label + "ใ—ใ‚“ใ—ใคใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎค็˜ค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200234
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅฟƒๅฎค็˜ค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100060 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100060
+ rdfs:label + "Endocardial fibroelastosis" + @en
+ rdfs:label + "ใ—ใ‚“ใชใ„ใพใใ›ใ‚“ใ„ใ ใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200235
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2155
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009169
+ skos:prefLabel + "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100061 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100061
+ rdfs:label + "Cardiac tumor" + @en
+ rdfs:label + "ใ—ใ‚“ใžใ†ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒ่‡“่…ซ็˜" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200236
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021209
+ skos:prefLabel + "ๅฟƒ่‡“่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100062 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100062
+ rdfs:label + "Chronic myocarditis" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200237
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100063 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100063
+ rdfs:label + "Chronic pericarditis" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใพใใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200238
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100064 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100064
+ rdfs:label + "Constrictive pericarditis" + @en
+ rdfs:label + "ใ—ใ‚…ใ†ใ—ใ‚…ใใ›ใ„ใ—ใ‚“ใพใใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200239
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006711
+ skos:prefLabel + "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100065 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100065
+ rdfs:label + "Congenital defect of the pericardium" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚“ใพใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200240
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100066 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100066
+ rdfs:label + "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants" + @en
+ rdfs:label + "ใซใ‚…ใ†ใ˜ใจใใฏใคใ›ใ„ใใ†ใผใ†ในใ‚“ใ‘ใ‚“ใ•ใใ ใ‚“ใ‚Œใค" + @ja-Hira
+ rdfs:label + "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200241
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100067 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100067
+ rdfs:label + "Abnormal origin of coronary artery from pulmonary artery" + @en
+ rdfs:label + "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ—ใ„ใ˜ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100068 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100068
+ rdfs:label + "Coronary aneurysms complicated with Kawasaki disease" + @en
+ rdfs:label + "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200245
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_26_032/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100069 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100069
+ rdfs:label + "Stenosis or atresia of coronary artery (not caused by Kawasaki disease)" + @en
+ rdfs:label + "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†๏ผˆใ‹ใ‚ใ•ใใณใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_27_033/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100070 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100070
+ rdfs:label + "Ischemic heart disease" + @en
+ rdfs:label + "ใใ‚‡ใ‘ใคใ›ใ„ใ—ใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "Ischaemic heart disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024644
+ skos:prefLabel + "่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100071 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100071
+ rdfs:label + "Hypoplastic left heart syndrome" + @en
+ rdfs:label + "ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200249
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_29_036/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "HLHS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004933
+ skos:prefLabel + "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100072 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100072
+ rdfs:label + "Single ventricle" + @en
+ rdfs:label + "ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ˜ๅฟƒๅฎค็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200250
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_30_037/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅ˜ๅฟƒๅฎค็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100073 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100073
+ rdfs:label + "Tricuspid atresia" + @en
+ rdfs:label + "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200251
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4313
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_31_038/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011514
+ skos:prefLabel + "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100074 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100074
+ rdfs:label + "Pulmonary atresia" + @en
+ rdfs:label + "ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ " + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "PA" + @en
+ skos:prefLabel + "่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ " + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100075 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100075
+ rdfs:label + "Tetralogy of Fallot" + @en
+ rdfs:label + "ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200254
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1513
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "Fallotๅ››ๅพด็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008542
+ skos:prefLabel + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100076 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100076
+ rdfs:label + "Double outlet right ventricle" + @en
+ rdfs:label + "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200256
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "DORV" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018089
+ skos:prefLabel + "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100077 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100077
+ rdfs:label + "Double-outlet left ventricle" + @en
+ rdfs:label + "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ•ใ—ใคใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200257
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018090
+ skos:prefLabel + "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100078 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100078
+ rdfs:label + "Complete transposition of the great arteries" + @en
+ rdfs:label + "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200258
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_36_045/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "complete TGA" + @en
+ skos:prefLabel + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100079 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100079
+ rdfs:label + "Congenitally corrected transposition of the great arteries" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200259
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016301
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100080 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100080
+ rdfs:label + "Ebstein's anomaly" + @en
+ rdfs:label + "ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200260
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2129
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "Ebstein็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009144
+ skos:prefLabel + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100081 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100081
+ rdfs:label + "Truncus arteriosus communis" + @en
+ rdfs:label + "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200261
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_39_048/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100082 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100082
+ rdfs:label + "Aorto-pulmonary window" + @en
+ rdfs:label + "ใ ใ„ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200262
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_40_049/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021902
+ skos:prefLabel + "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100083 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100083
+ rdfs:label + "Cor triatriatum" + @en
+ rdfs:label + "ใ•ใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚“" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฟƒๆˆฟๅฟƒ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200263
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015450
+ skos:prefLabel + "ไธ‰ๅฟƒๆˆฟๅฟƒ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100084 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100084
+ rdfs:label + "Patent ductus arteriosus" + @en
+ rdfs:label + "ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ‹ใ„ใžใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200264
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_42_051/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "PDA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011827
+ skos:prefLabel + "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100085 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100085
+ rdfs:label + "Atrial septal defect" + @en
+ rdfs:label + "ใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00546
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006664
+ skos:prefLabel + "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100086 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100086
+ rdfs:label + "Complete atrioventricular septal defect" + @en
+ rdfs:label + "ใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200269
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015273
+ skos:prefLabel + "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100087 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100087
+ rdfs:label + "Ventricular septal defect" + @en
+ rdfs:label + "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200270
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_45_057/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "VSD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002070
+ skos:prefLabel + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100088 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100088
+ rdfs:label + "Total anomalous pulmonary venous connection" + @en
+ rdfs:label + "ใใ†ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200271
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100089 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100089
+ rdfs:label + "Pulmonary venous obstruction" + @en
+ rdfs:label + "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บ้™่„ˆ็‹ญ็ช„็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200273
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "่‚บ้™่„ˆ็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100090 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100090
+ rdfs:label + "Left ventricular-right atrial communication" + @en
+ rdfs:label + "ใ•ใ—ใคใ†ใผใ†ใ“ใ†ใคใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200274
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020428
+ skos:prefLabel + "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100091 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100091
+ rdfs:label + "Double-chambered right ventricle" + @en
+ rdfs:label + "ใ†ใ—ใคใซใใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅณๅฎคไบŒ่…”็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200275
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅณๅฎคไบŒ่…”็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100092 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100092
+ rdfs:label + "Subvalvular pulmonary stenosis" + @en
+ rdfs:label + "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200276
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006935
+ skos:prefLabel + "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100093 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100093
+ rdfs:label + "Subvalvular aortic stenosis" + @en
+ rdfs:label + "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200277
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006987
+ skos:prefLabel + "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100094 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100094
+ rdfs:label + "pulmonary arteriostenosis" + @en
+ rdfs:label + "ใฏใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100095 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100095
+ rdfs:label + "Absent pulmonary valve" + @en
+ rdfs:label + "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‘ใฃใใ‚“" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๅผๆฌ ๆ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200280
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020064
+ skos:prefLabel + "่‚บๅ‹•่„ˆๅผๆฌ ๆ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100096 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100096
+ rdfs:label + "Origin of pulmonary artery from ascending aorta" + @en
+ rdfs:label + "ใฏใ„ใฉใ†ใฟใ‚ƒใใ˜ใ‚‡ใ†ใ“ใ†ใ ใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200281
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100097 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100097
+ rdfs:label + "Unilateral absence of a pulmonary artery" + @en
+ rdfs:label + "ใ„ใฃใใใฏใ„ใฉใ†ใฟใ‚ƒใใ‘ใฃใใ‚“" + @ja-Hira
+ rdfs:label + "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200282
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100098 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100098
+ rdfs:label + "Aortic stenosis" + @en
+ rdfs:label + "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004978
+ skos:prefLabel + "ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100099 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100099
+ rdfs:label + "Aortic arch occlusive disease" + @en
+ rdfs:label + "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใธใ„ใใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200289
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100100 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100100
+ rdfs:label + "Vascular ring" + @en
+ rdfs:label + "ใ‘ใฃใ‹ใ‚“ใ‚Šใ‚“" + @ja-Hira
+ rdfs:label + "่ก€็ฎก่ผช" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "่ก€็ฎก่ผช" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100101 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100101
+ rdfs:label + "Aortic aneurysm" + @en
+ rdfs:label + "ใ ใ„ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆ็˜ค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200294
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005160
+ skos:prefLabel + "ๅคงๅ‹•่„ˆ็˜ค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100102 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100102
+ rdfs:label + "Arteriovenous fistulae" + @en
+ rdfs:label + "ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ†" + @ja-Hira
+ rdfs:label + "ๅ‹•้™่„ˆ็˜ป" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅ‹•้™่„ˆ็˜ป" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100103 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100103
+ rdfs:label + "Pulmonary arterial hypertension" + @en
+ rdfs:label + "ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200298
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_61_085/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "IPAH" + @en
+ skos:altLabel + "PAH" + @en
+ skos:altLabel + "็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015924
+ skos:prefLabel + "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100104 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100104
+ rdfs:label + "Chronic cor pulmonale" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใฏใ„ใ›ใ„ใ—ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200299
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100105 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100105
+ rdfs:label + "Valvular heart disease" + @en
+ rdfs:label + "ใ—ใ‚“ใžใ†ในใ‚“ใพใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒ่‡“ๅผ่†œ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002869
+ skos:prefLabel + "ๅฟƒ่‡“ๅผ่†œ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100106 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100106
+ rdfs:label + "Supramitral ring" + @en
+ rdfs:label + "ใใ†ใผใ†ในใ‚“ในใ‚“ใ˜ใ‚‡ใ†ใ‚Šใ‚“" + @ja-Hira
+ rdfs:label + "ๅƒงๅธฝๅผๅผไธŠ่ผช" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200308
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅƒงๅธฝๅผๅผไธŠ่ผช" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100107 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100107
+ rdfs:label + "Hheterotaxy syndrome" + @en
+ rdfs:label + "ใชใ„ใžใ†ใ•ใใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:prefLabel + "ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100108 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100108
+ rdfs:label + "Post-Fontan syndrome" + @en
+ rdfs:label + "ใตใ‰ใ‚“ใŸใ‚“ใ˜ใ‚…ใคใ”ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200311
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100042
+ skos:altLabel + "Fontan่ก“ๅพŒ็—‡ๅ€™็พค" + @ja
+ skos:prefLabel + "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100109 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100109
+ rdfs:label + "Endocrine disease" + @en
+ rdfs:label + "ใชใ„ใถใ‚“ใดใคใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005151
+ skos:prefLabel + "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100110 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100110
+ rdfs:label + "Hypopituitarism" + @en
+ rdfs:label + "ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01700
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005152
+ skos:prefLabel + "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100111 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100111
+ rdfs:label + "Pituitary gigantism" + @en
+ rdfs:label + "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใใ‚‡ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200314
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_02_003/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020479
+ skos:prefLabel + "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100112 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100112
+ rdfs:label + "Acromegaly" + @en
+ rdfs:label + "ใ›ใ‚“ใŸใ‚“ใใ‚‡ใ ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆ็ซฏๅทจๅคง็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200315
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_03_004/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019933
+ skos:prefLabel + "ๅ…ˆ็ซฏๅทจๅคง็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100113 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100113
+ rdfs:label + "Growth hormone deficiency" + @en
+ rdfs:label + "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "GHD" + @en
+ skos:prefLabel + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100114 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100114
+ rdfs:label + "Growth hormone insensitivity" + @en
+ rdfs:label + "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200321
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015892
+ skos:prefLabel + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100115 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100115
+ rdfs:label + "Hyperprolactinemia" + @en
+ rdfs:label + "ใ“ใ†ใทใ‚ใ‚‰ใใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200322
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_06_009/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "Hyperprolactinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005804
+ skos:prefLabel + "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100116 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100116
+ rdfs:label + "Syndrome of inappropriate secretion of antidiuretic hormone" + @en
+ rdfs:label + "ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200323
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_07_010/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "ADHๅˆ†ๆณŒไบข้€ฒ็—‡" + @ja
+ skos:altLabel + "SIADH" + @en
+ skos:altLabel + "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006802
+ skos:prefLabel + "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100117 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100117
+ rdfs:label + "Diabetes insipidus" + @en
+ rdfs:label + "ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฐฟๅดฉ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004782
+ skos:prefLabel + "ๅฐฟๅดฉ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100118 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100118
+ rdfs:label + "Cerebral salt wasting syndrome" + @en
+ rdfs:label + "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใˆใ‚“ใใ†ใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200327
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100119 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100119
+ rdfs:label + "Hyperthyroidism" + @en
+ rdfs:label + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200329
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004425
+ skos:prefLabel + "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100120 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100120
+ rdfs:label + "Hypothyroidism" + @en
+ rdfs:label + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005420
+ skos:prefLabel + "็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100121 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100121
+ rdfs:label + "Resistance to thyroid hormone" + @en
+ rdfs:label + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200341
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3114
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_12_024/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "RTH" + @en
+ skos:altLabel + "Syndrome of Resistance to Thyroid Hormone" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001328
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010131
+ skos:prefLabel + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100122 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100122
+ rdfs:label + "Adenomatous goiter" + @en
+ rdfs:label + "ใ›ใ‚“ใ—ใ‚…ใ‚ˆใ†ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200342
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "Adenomatous goitre" + @en
+ skos:prefLabel + "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100123 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100123
+ rdfs:label + "Hyperparathyroidism" + @en
+ rdfs:label + "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200343
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_14_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001741
+ skos:prefLabel + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100124 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100124
+ rdfs:label + "Hypoparathyroidism" + @en
+ rdfs:label + "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200345
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001220
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015895
+ skos:prefLabel + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100125 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100125
+ rdfs:label + "Autoimmune polyendocrinopathy" + @en
+ rdfs:label + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017278
+ skos:prefLabel + "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100126 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100126
+ rdfs:label + "Pseudohypoparathyroidism" + @en
+ rdfs:label + "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200349
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019992
+ skos:prefLabel + "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100127 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100127
+ rdfs:label + "Cushing (Cushing) syndrome" + @en
+ rdfs:label + "ใใฃใ—ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01431
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "Cushing็—‡ๅ€™็พค" + @ja
+ skos:prefLabel + "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100128 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100128
+ rdfs:label + "Chronic adrenal insufficiency" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100129 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100129
+ rdfs:label + "Aldosteronism" + @en
+ rdfs:label + "ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200361
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100130 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100130
+ rdfs:label + "Apparent mineralocorticoid excess syndrome" + @en
+ rdfs:label + "ใฟใ‹ใ‘ใฎใ“ใ†ใ—ใคใ“ใ‚‹ใกใ“ใ„ใฉใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200362
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2003
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "AME็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006657
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009025
+ skos:prefLabel + "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100131 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100131
+ rdfs:label + "Liddle syndrome" + @en
+ rdfs:label + "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200363
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "Liddle็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008323
+ skos:prefLabel + "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100132 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100132
+ rdfs:label + "Hypoaldosteronism" + @en
+ rdfs:label + "ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015900
+ skos:prefLabel + "ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100133 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100133
+ rdfs:label + "Pseudohypoaldosteronism" + @en
+ rdfs:label + "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200367
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018638
+ skos:prefLabel + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100134 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100134
+ rdfs:label + "Congenital adrenal hyperplasia" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00216
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "CAH" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018479
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100135 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100135
+ rdfs:label + "Precocious puberty" + @en
+ rdfs:label + "ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00937
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000088
+ skos:prefLabel + "ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100136 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100136
+ rdfs:label + "Hyperestrogenism (excluding precocious puberty)" + @en
+ rdfs:label + "ใˆใ™ใจใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†ใ‚’ใฎใžใใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_27_059/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100137 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100137
+ rdfs:label + "Hyperandrogenism (excluding precocious puberty)" + @en
+ rdfs:label + "ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†ใ‚’ใฎใžใใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_28_060/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100138 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100138
+ rdfs:label + "Hypogonadotropic hypogonadism" + @en
+ rdfs:label + "ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200382
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018555
+ skos:prefLabel + "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100139 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100139
+ rdfs:label + "Hypergonadotropic hypogonadism" + @en
+ rdfs:label + "ใ“ใ†ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005387
+ skos:prefLabel + "้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100140 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100140
+ rdfs:label + "Disorders of sex development" + @en
+ rdfs:label + "ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002145
+ skos:prefLabel + "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100141 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100141
+ rdfs:label + "Gastrointestinal Hormone Producing Tumors" + @en
+ rdfs:label + "ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100142 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100142
+ rdfs:label + "Glucagonoma" + @en
+ rdfs:label + "ใใ‚‹ใ‹ใ”ใฎใƒผใพ" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200397
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019959
+ skos:prefLabel + "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100143 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100143
+ rdfs:label + "Hyperinsulinemic hypoglycemia" + @en
+ rdfs:label + "ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ›ใ„ใฆใ„ใ‘ใฃใจใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_34_079/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "Hyperinsulinaemic hypoglycaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005803
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017182
+ skos:prefLabel + "้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100144 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100144
+ rdfs:label + "Vitamin d-dependent rickets" + @en
+ rdfs:label + "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200401
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_35_080/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024299
+ skos:prefLabel + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100145 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100145
+ rdfs:label + "Vitamin D-resistant osteomalacia" + @en
+ rdfs:label + "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200402
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100146 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100146
+ rdfs:label + "Primary hypophosphatemic rickets" + @en
+ rdfs:label + "ใ’ใ‚“ใฑใคใ›ใ„ใฆใ„ใ‚Šใ‚“ใ‘ใคใ—ใ‚‡ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200403
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_37_082/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "Primary hypophosphataemic rickets" + @en
+ skos:prefLabel + "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100147 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100147
+ rdfs:label + "Lipodystrophy" + @en
+ rdfs:label + "ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„‚่‚ช่Ž็ธฎ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200404
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:altLabel + "่„‚่‚ช็•ฐๆ „้คŠ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006573
+ skos:prefLabel + "่„‚่‚ช่Ž็ธฎ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100148 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100148
+ rdfs:label + "Multiple endocrine neoplasia" + @en
+ rdfs:label + "ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017169
+ skos:prefLabel + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100149 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100149
+ rdfs:label + "Polycystic ovary syndrome" + @en
+ rdfs:label + "ใŸใฎใ†ใปใ†ใ›ใ„ใ‚‰ใ‚“ใใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200409
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1463
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_40_087/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008487
+ skos:prefLabel + "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100150 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100150
+ rdfs:label + "Other endocrine disease" + @en
+ rdfs:label + "ใชใ„ใถใ‚“ใดใคใ—ใฃใ‹ใ‚“ใ‚’ใจใ‚‚ใชใ†ใใฎใปใ‹ใฎใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100109
+ skos:prefLabel + "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100151 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100151
+ rdfs:label + "Collagen disease" + @en
+ rdfs:label + "ใ“ใ†ใ’ใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่† ๅŽŸ็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005554
+ skos:prefLabel + "่† ๅŽŸ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100152 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100152
+ rdfs:label + "Collagen disease" + @en
+ rdfs:label + "ใ“ใ†ใ’ใ‚“ใณใ‚‡ใ†ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่† ๅŽŸ็—…็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100151
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005554
+ skos:prefLabel + "่† ๅŽŸ็—…็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100153 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100153
+ rdfs:label + "vasculitic syndrome" + @en
+ rdfs:label + "ใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่ก€็ฎก็‚Ž็—‡ๅ€™็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100151
+ skos:prefLabel + "่ก€็ฎก็‚Ž็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100154 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100154
+ rdfs:label + "Relapsing Polychondritis" + @en
+ rdfs:label + "ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200428
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_03_012/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100151
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019125
+ skos:prefLabel + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100155 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100155
+ rdfs:label + "Skin and connective tissue disease" + @en
+ rdfs:label + "ใฒใตใƒปใ‘ใคใ”ใ†ใใ—ใใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1100003
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100151
+ skos:prefLabel + "็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100156 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100156
+ rdfs:label + "Autoinflammatory disease" + @en
+ rdfs:label + "ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100151
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019751
+ skos:prefLabel + "่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100157 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100157
+ rdfs:label + "Diabetes" + @en
+ rdfs:label + "ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ณ–ๅฐฟ็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005015
+ skos:prefLabel + "็ณ–ๅฐฟ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100158 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100158
+ rdfs:label + "Diabetes" + @en
+ rdfs:label + "ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ณ–ๅฐฟ็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100157
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005015
+ skos:prefLabel + "็ณ–ๅฐฟ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100159 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100159
+ rdfs:label + "Inborn errors of metabolism" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019052
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100160 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100160
+ rdfs:label + "Disorder of amino acid metabolism" + @en
+ rdfs:label + "ใ‚ใฟใฎใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037871
+ skos:prefLabel + "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100161 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100161
+ rdfs:label + "Disorder of organic acid metabolism" + @en
+ rdfs:label + "ใ‚†ใ†ใใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0045022
+ skos:prefLabel + "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100162 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100162
+ rdfs:label + "Disorder of fatty-acid metabolism" + @en
+ rdfs:label + "ใ—ใผใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037858
+ skos:prefLabel + "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100163 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100163
+ rdfs:label + "Mitochondrial diseases" + @en
+ rdfs:label + "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:altLabel + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004069
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044970
+ skos:prefLabel + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100164 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100164
+ rdfs:label + "Disorder of carbohydrate metabolism" + @en
+ rdfs:label + "ใจใ†ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037792
+ skos:prefLabel + "็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100165 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100165
+ rdfs:label + "Lysosomal storage disease" + @en
+ rdfs:label + "ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002561
+ skos:prefLabel + "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100166 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100166
+ rdfs:label + "Peroxisomal Disorder" + @en
+ rdfs:label + "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019053
+ skos:prefLabel + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100167 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100167
+ rdfs:label + "Disorder of metal metabolism" + @en
+ rdfs:label + "ใใ‚“ใžใใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:prefLabel + "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100168 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100168
+ rdfs:label + "Disorder of purine and pyrimidine metabolism" + @en
+ rdfs:label + "ใทใ‚Šใ‚“ใดใ‚Šใฟใ˜ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:prefLabel + "ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100169 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100169
+ rdfs:label + "Disorder of vitamin metabolism" + @en
+ rdfs:label + "ใณใŸใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:prefLabel + "ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100170 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100170
+ rdfs:label + "Disorder of neurotransmitter metabolism and transport" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใงใ‚“ใŸใคใถใฃใ—ใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:prefLabel + "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100171 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100171
+ rdfs:label + "Disorder of lipid metabolism" + @en
+ rdfs:label + "ใ—ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:prefLabel + "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100172 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100172
+ rdfs:label + "Connective tissue disorder" + @en
+ rdfs:label + "ใ‘ใคใ”ใ†ใใ—ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003900
+ skos:prefLabel + "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100173 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100173
+ rdfs:label + "Porphyria" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200610
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037939
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100174 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100174
+ rdfs:label + "Alpha-1-antitrypsin deficiency" + @en
+ rdfs:label + "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" + @ja
+ rdfs:label + "ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200611
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7534
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100159
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013282
+ skos:prefLabel + "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100175 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100175
+ rdfs:label + "Blood disease" + @en
+ rdfs:label + "ใ‘ใคใˆใใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่ก€ๆถฒ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005570
+ skos:prefLabel + "่ก€ๆถฒ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100176 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100176
+ rdfs:label + "Megaloblastic anemia" + @en
+ rdfs:label + "ใใ‚‡ใ›ใใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200612
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_01_001/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "Megaloblastic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001700
+ skos:prefLabel + "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100177 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100177
+ rdfs:label + "Pure red cell aplasia" + @en
+ rdfs:label + "ใ›ใใŒใใ‚…ใ†ใ‚ใ†" + @ja-Hira
+ rdfs:label + "่ตค่Šฝ็ƒ็™†" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001705
+ skos:prefLabel + "่ตค่Šฝ็ƒ็™†" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100178 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100178
+ rdfs:label + "Congenital dyserythropoietic anemia" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200615
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_03_004/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "CDA" + @en
+ skos:altLabel + "Congenital dyserythropoietic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019403
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100179 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100179
+ rdfs:label + "Sideroblastic anemia" + @en
+ rdfs:label + "ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200616
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_04_005/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "Sideroblastic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015194
+ skos:prefLabel + "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100180 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100180
+ rdfs:label + "Congenital atransferrinemia" + @en
+ rdfs:label + "ใ‚€ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200617
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1818
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_05_006/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "Congenital atransferrinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008846
+ skos:prefLabel + "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100181 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100181
+ rdfs:label + "Autoimmune hemolytic anemia" + @en
+ rdfs:label + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9446
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_06_009/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "AIHA" + @en
+ skos:altLabel + "Autoimmune haemolytic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020108
+ skos:prefLabel + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100182 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100182
+ rdfs:label + "Paroxysmal nocturnal haemoglobinuria" + @en
+ rdfs:label + "ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200621
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_07_010/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "PNH" + @en
+ skos:altLabel + "Paroxysmal nocturnal haemoglobinuria" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018641
+ skos:prefLabel + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100183 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100183
+ rdfs:label + "Hereditary hemolytic anemia" + @en
+ rdfs:label + "ใ„ใงใ‚“ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "Hereditary haemolytic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003689
+ skos:prefLabel + "้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100184 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100184
+ rdfs:label + "Hemolytic anemia due to hypersplenism" + @en
+ rdfs:label + "ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค๏ผˆใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_09_019/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "Haemolytic anaemia due to hypersplenism" + @en
+ skos:prefLabel + "ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100185 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100185
+ rdfs:label + "Microangiopathic hemolytic anemia" + @en
+ rdfs:label + "ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200638
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_10_020/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "MAHA" + @en
+ skos:altLabel + "Microangiopathic haemolytic anaemia" + @en
+ skos:prefLabel + "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100186 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100186
+ rdfs:label + "Polycythemia vera" + @en
+ rdfs:label + "ใ—ใ‚“ใ›ใ„ใŸใ‘ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็œŸๆ€งๅคš่ก€็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200643
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2875
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00012
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "PV" + @en
+ skos:altLabel + "Polycythaemia vera" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009891
+ skos:prefLabel + "็œŸๆ€งๅคš่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100187 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100187
+ rdfs:label + "Familial polycythemia" + @en
+ rdfs:label + "ใ‹ใžใใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200644
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_12_022/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "Familial polycythaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001115
+ skos:prefLabel + "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100188 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100188
+ rdfs:label + "Thrombocytopenic purpura" + @en
+ rdfs:label + "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0043768
+ skos:prefLabel + "่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100189 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100189
+ rdfs:label + "Thrombotic thrombocytopenic purpura" + @en
+ rdfs:label + "ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200649
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_14_025/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "TTP" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018896
+ skos:prefLabel + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100190 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100190
+ rdfs:label + "Thrombocytopenia (limited to those caused by hypersplenism.)" + @en
+ rdfs:label + "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:prefLabel + "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100191 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100191
+ rdfs:label + " Congenital bone marrow failure syndrome" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100192 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100192
+ rdfs:label + "Cyclic thrombocytopenia" + @en
+ rdfs:label + "ใ—ใ‚…ใ†ใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200653
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1526
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008556
+ skos:prefLabel + "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100193 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100193
+ rdfs:label + "May-Hegglin anomaly" + @en
+ rdfs:label + "ใ‚ใ„ใƒปใธใใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200654
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=949
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02051
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "May-Hegglin็•ฐๅธธ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007954
+ skos:prefLabel + "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100194 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100194
+ rdfs:label + "Essential thrombocythemia" + @en
+ rdfs:label + "ใปใ‚“ใŸใ„ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200655
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_19_031/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "ET" + @en
+ skos:altLabel + "Essential thrombocythaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005029
+ skos:prefLabel + "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100195 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100195
+ rdfs:label + "Platelet dysfunction" + @en
+ rdfs:label + "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใใฎใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:prefLabel + "่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100196 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100196
+ rdfs:label + "Inherited bleeding disorder" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใคใˆใใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ„ใ˜ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100197 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100197
+ rdfs:label + "Protein C deficiency" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใ—ใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200689
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019145
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100198 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100198
+ rdfs:label + "Protein S deficiency" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใˆใ™ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200690
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002304
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100199 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100199
+ rdfs:label + "Antithrombin deficiency" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใกใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200691
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100200 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100200
+ rdfs:label + "Myelofibrosis" + @en
+ rdfs:label + "ใ“ใคใšใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจ้ซ„็ทš็ถญ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200692
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_25_051/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "MF" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044903
+ skos:prefLabel + "้ชจ้ซ„็ทš็ถญ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100201 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100201
+ rdfs:label + "Aplastic anemia" + @en
+ rdfs:label + "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200693
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_26_052/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100175
+ skos:altLabel + "Aplastic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015909
+ skos:prefLabel + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100202 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100202
+ rdfs:label + "Immune system disease" + @en
+ rdfs:label + "ใ‚ใ‚“ใˆใใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…็–ซ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005046
+ skos:prefLabel + "ๅ…็–ซ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100203 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100203
+ rdfs:label + "Combined immunodeficiency" + @en
+ rdfs:label + "ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00093
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015131
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018035
+ skos:prefLabel + "่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100204 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100204
+ rdfs:label + "Immunodeficiency" + @en
+ rdfs:label + "ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใจใใกใ‚‡ใ†ใฆใใชใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003778
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021094
+ skos:prefLabel + "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100205 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100205
+ rdfs:label + "Predominantly antibody deficiency" + @en
+ rdfs:label + "ใˆใใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใ—ใ‚…ใจใ™ใ‚‹ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:prefLabel + "ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100206 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100206
+ rdfs:label + "Disease of immune dysregulation" + @en
+ rdfs:label + "ใ‚ใ‚“ใˆใใกใ‚‡ใ†ใ›ใคใ—ใ‚‡ใ†ใŒใ„" + @ja-Hira
+ rdfs:label + "ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:prefLabel + "ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100207 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100207
+ rdfs:label + "Primary phagocyte dysfunction and phagocyte deficiency" + @en
+ rdfs:label + "ใ’ใ‚“ใฑใคใ›ใ„ใ—ใ‚‡ใใ•ใ„ใผใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใŠใ‚ˆใณใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:prefLabel + "ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100208 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100208
+ rdfs:label + "Defect in innate immunity" + @en
+ rdfs:label + "ใ—ใœใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ช็„ถๅ…็–ซ็•ฐๅธธ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:prefLabel + "่‡ช็„ถๅ…็–ซ็•ฐๅธธ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100209 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100209
+ rdfs:label + "Inherited deficiency of complement system" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200776
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100210 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100210
+ rdfs:label + "Hyper eosinophilic syndrome" + @en
+ rdfs:label + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200805
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_08_052/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:altLabel + "HES" + @en
+ skos:prefLabel + "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100211 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100211
+ rdfs:label + "Chronic active EB virus infection" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ‹ใคใฉใ†ใ›ใ„ใ„ใƒผใณใƒผใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200808
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:prefLabel + "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100212 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100212
+ rdfs:label + "Acquired immune deficiency syndrome" + @en
+ rdfs:label + "ใ“ใ†ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:altLabel + "AIDS" + @en
+ skos:altLabel + "Aquired immunodeficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012268
+ skos:prefLabel + "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100213 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100213
+ rdfs:label + "Chronic graft-versus-host disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ„ใ—ใ‚‡ใใธใ‚“ใŸใ„ใ—ใ‚…ใใ—ใ‚…ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200812
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100202
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020547
+ skos:prefLabel + "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100214 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100214
+ rdfs:label + "Neuromuscular disease" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1100001
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019056
+ skos:prefLabel + "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100215 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100215
+ rdfs:label + "Myelomeningocele" + @en
+ rdfs:label + "ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "่„Š้ซ„้ซ„่†œ็˜ค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200814
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017069
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019773
+ skos:prefLabel + "่„Š้ซ„้ซ„่†œ็˜ค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100216 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100216
+ rdfs:label + "Sacrococcygeal teratoma" + @en
+ rdfs:label + "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200816
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_02_004/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0042727
+ skos:prefLabel + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100217 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100217
+ rdfs:label + "Brain malformation" + @en
+ rdfs:label + "ใฎใ†ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใŒใ„" + @ja-Hira
+ rdfs:label + "่„ณๅฝขๆˆ้šœๅฎณ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016054
+ skos:prefLabel + "่„ณๅฝขๆˆ้šœๅฎณ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100218 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100218
+ rdfs:label + "Joubert syndrome related disorders" + @en
+ rdfs:label + "ใ˜ใ‚…ในใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200824
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015369
+ skos:prefLabel + "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100219 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100219
+ rdfs:label + "Rett syndrome" + @en
+ rdfs:label + "ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200825
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3558
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "Rett็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010726
+ skos:prefLabel + "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100220 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100220
+ rdfs:label + "Neurocutaneous syndrome" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใฒใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0042983
+ skos:prefLabel + "็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100221 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100221
+ rdfs:label + "Progeroid syndromes" + @en
+ rdfs:label + "ใใ†ใ‚ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ—ฉ่€็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015333
+ skos:prefLabel + "ๆ—ฉ่€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100222 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100222
+ rdfs:label + "Leukoencephalopathy caused by genetic abnormalities" + @en
+ rdfs:label + "ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใซใ‚ˆใ‚‹ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:prefLabel + "้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100223 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100223
+ rdfs:label + "ATR-X syndrome" + @en
+ rdfs:label + "ATR-X็—‡ๅ€™็พค" + @ja
+ rdfs:label + "ใˆใƒผใฆใƒใƒผใƒผใ‚‹ใˆใฃใใ™ใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200839
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3332
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010519
+ skos:prefLabel + "ATR-X็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100224 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100224
+ rdfs:label + "Fragile X syndrome" + @en
+ rdfs:label + "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200840
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6806
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_10_028/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010383
+ skos:prefLabel + "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100225 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100225
+ rdfs:label + "Inherited glycosylphosphatidylinositol deficiency" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200841
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_11_029/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "IGD" + @en
+ skos:altLabel + "ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ" + @ja
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100226 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100226
+ rdfs:label + "Cerebral creatine deficiency syndromes" + @en
+ rdfs:label + "ใฎใ†ใใ‚Œใ‚ใกใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200842
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "CCDSs" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000456
+ skos:prefLabel + "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100227 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100227
+ rdfs:label + "Craniosynostosis" + @en
+ rdfs:label + "ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015469
+ skos:prefLabel + "้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100228 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100228
+ rdfs:label + "Moyamoya disease" + @en
+ rdfs:label + "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200850
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_14_035/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016820
+ skos:prefLabel + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100229 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100229
+ rdfs:label + "Cerebral arteriovenous malformation" + @en
+ rdfs:label + "ใฎใ†ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„" + @ja-Hira
+ rdfs:label + "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200851
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=128
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007154
+ skos:prefLabel + "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100230 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100230
+ rdfs:label + "Cavernous angioma of the brain and spinal cord" + @en
+ rdfs:label + "ใ‹ใ„ใ‚ใ‚“ใ˜ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚…๏ผˆใฎใ†ใ›ใใšใ„๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200852
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:prefLabel + "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100231 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100231
+ rdfs:label + "Spinal muscular atrophy" + @en
+ rdfs:label + "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200853
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_17_038/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "SMA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001516
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019079
+ skos:prefLabel + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100232 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100232
+ rdfs:label + "Congenital neuropathy" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100233 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100233
+ rdfs:label + "Muscular dystrophy" + @en
+ rdfs:label + "ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020121
+ skos:prefLabel + "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100234 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100234
+ rdfs:label + "Congenital myopathy" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019952
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100235 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100235
+ rdfs:label + "Schwartz-Jampel syndrome" + @en
+ rdfs:label + "ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200876
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2703
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_21_056/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "Schwartz-Jampel็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009717
+ skos:prefLabel + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100236 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100236
+ rdfs:label + "Refractory epileptic encephalopathy" + @en
+ rdfs:label + "ใชใ‚“ใ˜ใฆใ‚“ใ‹ใ‚“ใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:prefLabel + "้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100237 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100237
+ rdfs:label + "Progressive myoclonus epilepsy" + @en
+ rdfs:label + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "PME" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020074
+ skos:prefLabel + "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100238 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100238
+ rdfs:label + "Spinocerebellar degeneration" + @en
+ rdfs:label + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200882
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_24_062/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "SCD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000437
+ skos:prefLabel + "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100239 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100239
+ rdfs:label + "Alternating hemiplegia of childhood" + @en
+ rdfs:label + "ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200883
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_25_063/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "AHC" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016241
+ skos:prefLabel + "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100240 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100240
+ rdfs:label + "dystonia musculorum deformans" + @en
+ rdfs:label + "ใธใ‚“ใ‘ใ„ใ›ใ„ใใ‚“ใ˜ใ™ใจใซใƒผ" + @ja-Hira
+ rdfs:label + "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200884
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=476
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007492
+ skos:prefLabel + "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100241 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100241
+ rdfs:label + "Neurodegeneration with brain iron accumulation" + @en
+ rdfs:label + "ใฎใ†ใฎใฆใคใกใ‚“ใกใ‚ƒใใ‚’ใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00833
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "NBIA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018307
+ skos:prefLabel + "่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100242 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100242
+ rdfs:label + "infantile bilateral striatal necrosis" + @en
+ rdfs:label + "ใซใ‚…ใ†ใ˜ใ‚Šใ‚‡ใ†ใใใ›ใ‚“ใ˜ใ‚‡ใ†ใŸใ„ใˆใ—" + @ja-Hira
+ rdfs:label + "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200888
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01177
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015518
+ skos:prefLabel + "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100243 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100243
+ rdfs:label + "congenital infections" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100244 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100244
+ rdfs:label + "Aicardi-Goutiรจres Syndrome" + @en
+ rdfs:label + "ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200893
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "Aicardi-Goutieres็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018866
+ skos:prefLabel + "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100245 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100245
+ rdfs:label + "Subacute sclerosing panencephalitis" + @en
+ rdfs:label + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200899
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_31_074/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "SSPE" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009835
+ skos:prefLabel + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100246 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100246
+ rdfs:label + "Rasmussen's Encephalitis" + @en
+ rdfs:label + "ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200900
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "Rasmussen Encephalitis" + @en
+ skos:altLabel + "Rasmussen่„ณ็‚Ž" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016019
+ skos:prefLabel + "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100247 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100247
+ rdfs:label + "Acute encephalopathy with biphasic seizures and late reduced diffusion" + @en
+ rdfs:label + "ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200901
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018198
+ skos:prefLabel + "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100248 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100248
+ rdfs:label + "Autoimmune encephalitis" + @en
+ rdfs:label + "ใ˜ใ“ใ‚ใ‚“ใˆใใ‹ใ„ใ–ใ„ใ›ใ„ใฎใ†ใˆใ‚“ใƒปใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200902
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020640
+ skos:prefLabel + "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100249 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100249
+ rdfs:label + "acute encephalitis with refractory, repetitive partial seizures" + @en
+ rdfs:label + "ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200903
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_35_078/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "AERRPS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015584
+ skos:prefLabel + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100250 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100250
+ rdfs:label + "Multiple sclerosis" + @en
+ rdfs:label + "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200904
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_36_079/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "MS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005301
+ skos:prefLabel + "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100251 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100251
+ rdfs:label + "Chronic inflammatory demyelinating polyneuropathy" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200905
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=679
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_37_080/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "CIDP" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002335
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006702
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007691
+ skos:prefLabel + "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100252 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100252
+ rdfs:label + "myasthenia gravis" + @en
+ rdfs:label + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้‡็—‡็ญ‹็„กๅŠ›็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200906
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2675
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_38_081/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100214
+ skos:altLabel + "MG" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009688
+ skos:prefLabel + "้‡็—‡็ญ‹็„กๅŠ›็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100253 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100253
+ rdfs:label + "Chronic digestive disease" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:prefLabel + "ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100254 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100254
+ rdfs:label + "congenital malabsorption" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅธๅŽไธๅ…จ็—‡" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งๅธๅŽไธๅ…จ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100255 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100255
+ rdfs:label + "microvillus inclusion disease" + @en
+ rdfs:label + "ใณใ˜ใ‚…ใ†ใ‚‚ใ†ใตใ†ใซใ‚…ใ†ใŸใ„ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200913
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2622
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009635
+ skos:prefLabel + "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100256 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100256
+ rdfs:label + "Intestinal Lymphangiectasia" + @en
+ rdfs:label + "ใกใ‚‡ใ†ใ‚Šใ‚“ใฑใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200914
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018178
+ skos:prefLabel + "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100257 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100257
+ rdfs:label + "Polyposis" + @en
+ rdfs:label + "ใฝใ‚Šใฝใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใƒใƒชใƒใƒผใ‚ทใ‚น" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000147
+ skos:prefLabel + "ใƒใƒชใƒใƒผใ‚ทใ‚น" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100258 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100258
+ rdfs:label + "Cyclic Vomiting Syndrome" + @en
+ rdfs:label + "ใ—ใ‚…ใ†ใใ›ใ„ใŠใ†ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200919
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6604
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010778
+ skos:prefLabel + "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100259 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100259
+ rdfs:label + "Inflammatory bowel disease" + @en
+ rdfs:label + "ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใกใ‚‡ใ†ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005265
+ skos:prefLabel + "็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100260 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100260
+ rdfs:label + "Autoimmune enteropathy (including IPEX syndrome.)" + @en
+ rdfs:label + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ‚ใ„ใบใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‚’ใตใใ‚€ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100261 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100261
+ rdfs:label + "Chronic nonspecific multiple ulcers of the small intestine" + @en
+ rdfs:label + "ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200925
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_05_018/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:altLabel + "CEAS" + @en
+ skos:altLabel + "Chronic enteropathy associated with SLCO2A1" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018766
+ skos:prefLabel + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100262 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100262
+ rdfs:label + "acute liver failure with hepatic coma" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใตใœใ‚“๏ผˆใ“ใ‚“ใ™ใ„ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200926
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100263 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100263
+ rdfs:label + "Neonatal hemochromatosis" + @en
+ rdfs:label + "ใ—ใ‚“ใ›ใ„ใ˜ใธใ‚‚ใใ‚ใพใจใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200927
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2263
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:altLabel + "Neonatal haemochromatosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009275
+ skos:prefLabel + "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100264 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100264
+ rdfs:label + "Autoimmune hepatitis" + @en
+ rdfs:label + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200928
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_07_021/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:altLabel + "AIH" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016264
+ skos:prefLabel + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100265 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100265
+ rdfs:label + "Primary sclerosing cholangitis" + @en
+ rdfs:label + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200929
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9460
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_07_022/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:altLabel + "PSC" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013433
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018646
+ skos:prefLabel + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100266 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100266
+ rdfs:label + "intrahepatic cholestatic disorders" + @en
+ rdfs:label + "ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ›ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100267 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100267
+ rdfs:label + "Congenital hepatic fibrosis" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200936
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018840
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100268 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100268
+ rdfs:label + "Liver Cirrhosis" + @en
+ rdfs:label + "ใ‹ใ‚“ใ“ใ†ใธใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚็กฌๅค‰็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200937
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005155
+ skos:prefLabel + "่‚็กฌๅค‰็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100269 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100269
+ rdfs:label + "Portal hypertension" + @en
+ rdfs:label + "ใ‚‚ใ‚“ใฟใ‚ƒใใ‚ใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้–€่„ˆๅœงไบข้€ฒ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200938
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005080
+ skos:prefLabel + "้–€่„ˆๅœงไบข้€ฒ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100270 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100270
+ rdfs:label + "Congenital Absence of Portal Vein" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200939
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100271 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100271
+ rdfs:label + "Congenital Hepatoportal Arteriovenous Fistula" + @en
+ rdfs:label + "ใ‚‚ใ‚“ใฟใ‚ƒใใƒปใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚ใ†" + @ja-Hira
+ rdfs:label + "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200940
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100272 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100272
+ rdfs:label + "Crigler-Najjar syndrome" + @en
+ rdfs:label + "ใใ‚Šใใ‚‰ใƒผใƒปใชใ˜ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200941
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:altLabel + "Crigler-Najjar็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009044
+ skos:prefLabel + "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100273 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100273
+ rdfs:label + "Intractable pancreatitis" + @en
+ rdfs:label + "ใชใ‚“ใ˜ใ›ใ„ใ™ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้›ฃๆฒปๆ€ง่†ต็‚Ž" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "้›ฃๆฒปๆ€ง่†ต็‚Ž" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100274 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100274
+ rdfs:label + "Short Bowel Syndrome" + @en
+ rdfs:label + "ใŸใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็Ÿญ่…ธ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200944
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01469
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015183
+ skos:prefLabel + "็Ÿญ่…ธ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100275 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100275
+ rdfs:label + "Hirschsprung disease and related disease" + @en
+ rdfs:label + "ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†ใŠใ‚ˆใณใ‚‹ใ„ใˆใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:altLabel + "Hirschsprung็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ" + @ja
+ skos:prefLabel + "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100276 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100276
+ rdfs:label + "Giant hepatic hemangiomas" + @en
+ rdfs:label + "ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่‚ๅทจๅคง่ก€็ฎก่…ซ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200949
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_15_042/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:altLabel + "Critical infantile hepatic haemangioma" + @en
+ skos:altLabel + "Giant hepatic haemangiomas" + @en
+ skos:altLabel + "ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ" + @ja
+ skos:prefLabel + "่‚ๅทจๅคง่ก€็ฎก่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100277 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100277
+ rdfs:label + "Persistent cloaca" + @en
+ rdfs:label + "ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“" + @ja-Hira
+ rdfs:label + "็ทๆŽ’ๆณ„่…”้บๆฎ‹" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200950
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_16_043/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "็ทๆŽ’ๆณ„่…”้บๆฎ‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100278 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100278
+ rdfs:label + "Cloacal extrophy" + @en
+ rdfs:label + "ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200951
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_16_044/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100253
+ skos:prefLabel + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100279 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100279
+ rdfs:label + "Chromosome abnormality" + @en
+ rdfs:label + "ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1100014
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019040
+ skos:prefLabel + "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100280 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100280
+ rdfs:label + "Chromosome abnormality" + @en
+ rdfs:label + "ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1100014
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100279
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019040
+ skos:prefLabel + "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100281 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100281
+ rdfs:label + "Skin disease" + @en
+ rdfs:label + "ใฒใตใ—ใฃใ‹ใ‚“ใใ‚“" + @ja-Hira
+ rdfs:label + "็šฎ่†š็–พๆ‚ฃ็พค" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005093
+ skos:prefLabel + "็šฎ่†š็–พๆ‚ฃ็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100282 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100282
+ rdfs:label + "oculocutaneous albinism (congenital albinism)" + @en
+ rdfs:label + "ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†๏ผˆใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใฒใ—ใ‚‡ใ†๏ผ‰" + @ja-Hira
+ rdfs:label + "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:prefLabel + "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100283 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100283
+ rdfs:label + "congenital ichthyosis" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015947
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100284 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100284
+ rdfs:label + "Epidermolysis bullosa" + @en
+ rdfs:label + "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่กจ็šฎๆฐด็–ฑ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201000
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_03_008/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006541
+ skos:prefLabel + "่กจ็šฎๆฐด็–ฑ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100285 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100285
+ rdfs:label + "Pustular psoriasis" + @en
+ rdfs:label + "ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201001
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_04_009/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:altLabel + "GPP" + @en
+ skos:altLabel + "Generalized pustular psoriasis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022205
+ skos:prefLabel + "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100286 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100286
+ rdfs:label + "Xeroderma pigmentosum" + @en
+ rdfs:label + "ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201002
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_05_010/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:altLabel + "XP" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019600
+ skos:prefLabel + "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100287 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100287
+ rdfs:label + "von Recklinghausen's disease" + @en
+ rdfs:label + "ใ‚Œใฃใใ‚Šใ‚“ใใฏใ†ใœใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201003
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1066
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:altLabel + "Recklinghausen็—…" + @ja
+ skos:altLabel + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018975
+ skos:prefLabel + "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100288 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100288
+ rdfs:label + "Pachydermoperiostosis" + @en
+ rdfs:label + "ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201004
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009799
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016620
+ skos:prefLabel + "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100289 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100289
+ rdfs:label + "ectodermal dysplsia" + @en
+ rdfs:label + "ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“" + @ja-Hira
+ rdfs:label + "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:prefLabel + "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100290 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100290
+ rdfs:label + "Stevens-Johnson syndrome" + @en
+ rdfs:label + "ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201006
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100281
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018229
+ skos:prefLabel + "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100291 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100291
+ rdfs:label + "Bone disease" + @en
+ rdfs:label + "ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201239
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005381
+ skos:prefLabel + "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100292 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100292
+ rdfs:label + "Thoracic insufficiency syndrome" + @en
+ rdfs:label + "ใใ‚‡ใ†ใ‹ใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201008
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100291
+ skos:prefLabel + "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100293 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100293
+ rdfs:label + "Bone disease" + @en
+ rdfs:label + "ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201239
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100291
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005381
+ skos:prefLabel + "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100294 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100294
+ rdfs:label + "Vascular disease" + @en
+ rdfs:label + "ใฟใ‚ƒใฃใ‹ใ‚“ใ‘ใ„/ใฟใ‚ƒใใ‹ใ‚“ใ‘ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "่„ˆ็ฎก็ณป็–พๆ‚ฃ" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2000001
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005385
+ skos:prefLabel + "่„ˆ็ฎก็ณป็–พๆ‚ฃ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100295 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100295
+ rdfs:label + "vascular malformation" + @en
+ rdfs:label + "ใฟใ‚ƒใฃใ‹ใ‚“ใ‘ใ„/ใฟใ‚ƒใใ‹ใ‚“ใ‘ใ„ใใ‘ใ„" + @ja-Hira
+ rdfs:label + "่„ˆ็ฎกๅฅ‡ๅฝข" + @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100294
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024291
+ skos:prefLabel + "่„ˆ็ฎกๅฅ‡ๅฝข" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100296 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100296
+ rdfs:label + "Hereditary hemorrhagic telangiectasia" + @en
+ rdfs:label + "ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใพใฃใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201034
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/16_02_008/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100294
+ skos:altLabel + "HHT" + @en
+ skos:altLabel + "Hereditary haemorrhagic telangiectasia" + @en
+ skos:altLabel + "Osler-Weber-Rendu disease" + @en
+ skos:altLabel + "ใ‚ชใ‚นใƒฉใƒผ็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019180
+ skos:prefLabel + "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2100297 + (rdf:type + + owl:Class + ) + +
+ dcterms:identifierNANDO:2100297
+ rdfs:label + "Kasabach-Merritt syndrome" + @en
+ rdfs:label + "ใ‹ใ•ใฐใฃใฏใƒปใ‚ใ‚Šใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค " + @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201035
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=697
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/16_03_009/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100294
+ skos:altLabel + "Kasabach-Merritt็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007708
+ skos:prefLabel + "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค " + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200001 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber80
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚" + @ja
+ dcterms:identifierNANDO:2200001
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_001_01.pdf
+ rdfs:label + "B-cell precursor lymphoblastic leukemia" + @en
+ rdfs:label + "ใœใ‚“ใใณใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_001/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "B-cell precursor lymphoblastic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020511
+ skos:prefLabel + "ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200002 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber77
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚" + @ja
+ dcterms:identifierNANDO:2200002
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_002_01.pdf
+ rdfs:label + "Mature B-cell lymphoblastic leukemia" + @en
+ rdfs:label + "ใ›ใ„ใ˜ใ‚…ใใณใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_002/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Mature B-cell lymphoblastic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000872
+ skos:prefLabel + "ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200003 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber81
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚" + @ja
+ dcterms:identifierNANDO:2200003
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_003_01.pdf
+ rdfs:label + "T-cell lymphoblastic leukemia" + @en
+ rdfs:label + "T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:label + "ใฆใƒใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00002
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_003/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "T-cell lymphoblastic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004963
+ skos:prefLabel + "T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200004 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber71
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200004
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_004_01.pdf
+ rdfs:label + "Acute myeloid leukemia with minimal differentiation" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†ใ€ใ•ใ„ใฟใถใ‚“ใ‹" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ–" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_004/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute myeloid leukaemia with minimal differentiation" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005223
+ skos:prefLabel + "ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ–" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200005 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber79
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200005
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_005_01.pdf
+ rdfs:label + "Acute myeloid leukemia without maturation" + @en
+ rdfs:label + "ใ›ใ„ใ˜ใ‚…ใใ‚’ใจใ‚‚ใชใ‚ใชใ„ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_005/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute myeloid leukaemia without maturation" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005224
+ skos:prefLabel + "ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200006 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber78
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200006
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_006_01.pdf
+ rdfs:label + "Acute myeloid leukemia with maturation" + @en
+ rdfs:label + "ใ›ใ„ใ˜ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_006/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute myeloid leukaemia with maturation" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020320
+ skos:prefLabel + "ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200007 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber74
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200007
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_007_01.pdf
+ rdfs:label + "Acute promyelocytic leukemia" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใœใ‚“ใ“ใคใšใ„ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_007/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute promyelocytic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012883
+ skos:prefLabel + "ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200008 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber72
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200008
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_008_01.pdf
+ rdfs:label + "Acute monocytic leukemia" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_008/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute monocytic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000875
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007896
+ skos:prefLabel + "ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200009 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber75
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200009
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_009_01.pdf
+ rdfs:label + "Acute monocytic leukemia" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_009/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute monocytic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000875
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007896
+ skos:prefLabel + "ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200010 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber73
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200010
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_010_01.pdf
+ rdfs:label + "Acute erythremia" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใ›ใใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_010/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute erythraemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017858
+ skos:prefLabel + "ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200011 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber70
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200011
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_011_01.pdf
+ rdfs:label + "Acute megakaryoblastic leukemia" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใใ‚‡ใ‹ใใŒใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_011/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Acute megakaryoblastic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018872
+ skos:prefLabel + "ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200012 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber82
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200012
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_012_01.pdf
+ rdfs:label + "NK cell leukemia" + @en
+ rdfs:label + "NK็ดฐ่ƒž็™ฝ่ก€็—…" + @ja
+ rdfs:label + "ใˆใฌใ‘ใƒผใ•ใ„ใผใ†ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_012/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "NK cell leukaemia" + @en
+ skos:altLabel + "ใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ็ดฐ่ƒž็™ฝ่ก€็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019470
+ skos:prefLabel + "NK็ดฐ่ƒž็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200013 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber83
+ dcterms:description + "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆCML๏ผ‰ใฏๆ…ขๆ€งๆœŸใ‹ใ‚‰็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใธ้€ฒ่กŒใ™ใ‚‹้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ ่ก€ๅนน็ดฐ่ƒžใซPhๆŸ“่‰ฒไฝ“ใ€ใ™ใชใ‚ใกBCR-ABLใ‚ญใƒกใƒฉ้บไผๅญใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใจใ€ABLใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผใฎๆ’ๅธธ็š„ใชๆดปๆ€งๅŒ–ใ‹ใ‚‰็ดฐ่ƒžๅข—ๆฎ–ใฎไบข้€ฒใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใฎ้˜ปๅฎณใ€้ชจ้ซ„ใ‚นใƒˆใƒญใƒผใƒžใธใฎๆŽฅ็€็•ฐๅธธใ€ใ‚ฒใƒŽใƒ ใฎไธๅฎ‰ๅฎšๆ€งใŒ็”Ÿใ˜ใ€ๆ…ขๆ€งๆœŸใซใฏ้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ใ€ๅข—ๆฎ–ใŒๅผทใ่ช˜ๅฐŽใ•ใ‚Œใ‚‹ใ€‚็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใซใฏๆœชๅˆ†ๅŒ–ใช่Šฝ็ƒใฎๅข—ๆฎ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200013
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_013_01.pdf
+ rdfs:label + "Chronic myeloid leukemia" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00004
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_013/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "CML" + @en
+ skos:altLabel + "Chronic myeloid leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011996
+ skos:prefLabel + "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200014 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber84
+ dcterms:description + "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (CMML)ใฏๅ˜็ƒๅข—ๅŠ ใ‚’็‰นๅพดใจใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง่…ซ็˜(MPN)ใจ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค (MDS)ใฎๆ€ง่ณชใ‚’ไฝตใ›ๆŒใคใ‚ฏใƒญใƒผใƒณๆ€ง้ชจ้ซ„่…ซ็˜ใงใ‚ใ‚‹1)ใ€‚ๅฐๅ…ใซใŠใ„ใฆใฏๅŒๆง˜ใฎ็—…ๆ…‹ใจใ—ใฆRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚’ๆœ‰ใ—ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใŒใ‚ใ‚‹ใŒใ€ๅŽณๅฏ†ใช้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200014
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_014_01.pdf
+ rdfs:label + "Chronic myelomonocytic leukemia" + @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02411
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_014/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Chronic myelomonocytic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011908
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020311
+ skos:prefLabel + "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200015 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber76
+ dcterms:description + "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใฏๅคš่ƒฝๆ€ง้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Šๅ˜็ƒใจ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใŒ็•ฐๅธธๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ€ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹ใ€‚้ก†็ฒ’็ƒๅ˜็ƒใ‚ณใƒญใƒ‹ใƒผๅˆบๆฟ€ๅ› ๅญ (granulocyte-macrophage colony stimulating factor: GM-CSF)ๅ—ๅฎนไฝ“ฮฒ้Ž–ไธ‹ๆตใฎRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใŒ็ด„90%ใฎ็—‡ไพ‹ใงๆคœๅ‡บใ•ใ‚Œใ€JMMLใฎ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใฏGM-CSFใซๅฏพใ™ใ‚‹้ซ˜ๆ„Ÿๅ—ๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใ‚ฏใƒญใƒผใƒณใซ็”ฑๆฅใ™ใ‚‹็ดฐ่ƒžใŒๆœซๆขข่ก€ใ‚„้ชจ้ซ„ใฎใฟใชใ‚‰ใšๅ…จ่บซใฎ่‡“ๅ™จใงๅข—ๆฎ–ใ—ใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ใใŸใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200015
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_015_01.pdf
+ rdfs:label + "Juvenile myelomonocytic leukemia" + @en
+ rdfs:label + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_015/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Juvenile myelomonocytic leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011908
+ skos:prefLabel + "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200016 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber85
+ dcterms:description + "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200016
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf
+ rdfs:label + "1ใ‹ใ‚‰15ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—…" + @ja
+ rdfs:label + "Other leukemia" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_016/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100002
+ skos:altLabel + "Other leukaemia" + @en
+ skos:prefLabel + "1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200017 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber85
+ dcterms:identifierNANDO:2200017
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf
+ rdfs:label + "Acute undifferentiated leukemia" + @en
+ rdfs:label + "ใใ‚…ใ†ใ›ใ„ใฟใถใ‚“ใ‹ใŒใŸใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_016/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200016
+ skos:altLabel + "AUL" + @en
+ skos:altLabel + "Acute leukemia of ambiguous lineage" + @en
+ skos:altLabel + "Acute unclassified leukaemia" + @en
+ skos:altLabel + "Acute undifferentiated leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019460
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020321
+ skos:prefLabel + "ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200018 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber85
+ dcterms:identifierNANDO:2200018
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf
+ rdfs:label + "Mixed phenotype acute leukemia" + @en
+ rdfs:label + "ใ“ใ‚“ใ”ใ†ใŒใŸใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_016/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200016
+ skos:altLabel + "MPAL" + @en
+ skos:altLabel + "Mixed phenotype acute leukaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019460
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020743
+ skos:prefLabel + "ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200019 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber44
+ dcterms:description + "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Š็„กๅŠน้€ ่ก€ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…(AML)ใซ้€ฒ่กŒใ™ใ‚‹ใƒชใ‚นใ‚ฏใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆœซๆขข่ก€ใŠใ‚ˆใณ้ชจ้ซ„ใซใŠใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใซใ‚ˆใฃใฆ็—…ๅƒใŒ็•ฐใชใ‚Šใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„MDSใฏ็„กๅŠน้€ ่ก€ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใŒไธปไฝ“ใจใชใฃใฆๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ (AA)ใจใฎ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹ใฎใซๅฏพใ—ใฆใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ†MDSใฏAMLใซ่ฟ‘ใ„็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ๅฐๅ…ใฎMDSใฏใพใ‚Œใงใ€ๆˆไบบใฎใ‚‚ใฎใจใฏ็•ฐใชใ‚‹็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจ 5q-็—‡ๅ€™็พคใฏๅฐๅ…ใงใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ไธ€ๆ–นใงFanconi่ฒง่ก€ใชใฉใฎ้บไผๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค (inherited bone marrow failure syndrome: IBMFS)ใ‚„Down็—‡ๅ€™็พคใ€€(Down syndrome; DS)ใชใฉๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ ใพใŸใ€ๆ‚ชๆ€ง่…ซ็˜ใซๅฏพใ™ใ‚‹ๅŒ–ๅญฆ็™‚ๆณ•ใƒปๆ”พๅฐ„็ทšๆฒป็™‚ใ€AAใซๅฏพใ™ใ‚‹ๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใชใฉใซ็ถš็™บใ—ใ†ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็‰นๅพดใ‚’้‘‘ใฟใฆใ€ใƒจใƒผใƒญใƒƒใƒ‘ๅฐๅ…MDS็ ”็ฉถใ‚ฐใƒซใƒผใƒ— (EWOG)ใฏ2003ๅนดใซๅฐๅ…็‹ฌ่‡ชใฎMDS/MPD (้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ)็—…ๅž‹ๅˆ†้กžใ‚’ๆๆกˆใ—ใŸ1)ใ€‚WHOๅˆ†้กž็ฌฌ๏ผ”็‰ˆใซใŠใ„ใฆใ‚‚ใ“ใฎๅˆ†้กžใŒๆŽก็”จใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚่กจ ๅฐๅ…MDS/MPD็—…ๅž‹ๅˆ†้กž1)*่จป๏ผš AMLใจMDSใ‚’ใ‚ใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ใจใ—ใฆWHOๅˆ†้กžใฏ20%ใ‚’็”จใ„ใฆใ„ใ‚‹ใŒใ€ใ“ใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ๅ€คใฎๆ„็พฉใŒๅฐๅ…ใงใฏไธๆ˜Žใงใ‚ใ‚‹ใจใฎ็†็”ฑใ‹ใ‚‰EWOGใฏใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’30%ใจใ—ใฆFABๅˆ†้กžใง็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸRAEB-Tใ‚’MDSใซๆฎ‹ใ—ใฆใ„ใ‚‹ใ€‚ๆœฌๆฆ‚่ฆใฏAMLใฎ่จบๆ–ญๆฆ‚่ฆใจใฎๆ•ดๅˆๆ€งใ‚’้‘‘ใฟใฆใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’20%ใจใ—ใŸใ€‚" + @ja
+ dcterms:identifierNANDO:2200019
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_02_017_01.pdf
+ rdfs:label + "Myelodysplastic syndrome" + @en
+ rdfs:label + "ใ“ใคใšใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01481
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_02_017/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100003
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018881
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044873
+ skos:prefLabel + "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200020 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber86
+ dcterms:description + "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚" + @ja
+ dcterms:identifierNANDO:2200020
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_018_01.pdf
+ rdfs:label + "Mature B-cell lymphoma" + @en
+ rdfs:label + "ใ›ใ„ใ˜ใ‚…ใใณใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_018/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100004
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015759
+ skos:prefLabel + "ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200021 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber90
+ dcterms:description + "ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ๏ผˆALCL๏ผ‰ใฏใ€NHLใซๅฑžใ—ใ€ๅ…็–ซ่กจ็พๅž‹ใฏไธปใจใ—ใฆๆˆ็†ŸT็ดฐ่ƒžๅž‹ใงใ‚ใ‚‹ใŒใ€ใƒŒใƒซ็ดฐ่ƒžๅž‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จใฆใฎ็—‡ไพ‹ใงCD30ใŒ้™ฝๆ€งใจใชใ‚‹ใ€‚90%ไปฅไธŠใฎ็—‡ไพ‹ใงALK้บไผๅญๅ†ๆง‹ๆˆ้™ฝๆ€งใจใชใ‚‹ใ€‚WHOๅˆ†้กžๆ”นๅฎš็ฌฌ4็‰ˆใงใฏใ€ALK้™ฝๆ€งใจ้™ฐๆ€งใงALCLใฎ็—…ๅž‹ใ‚’ๅŒบๅˆฅใ—ใฆๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200021
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_019_01.pdf
+ rdfs:label + "Anaplastic large cell lymphoma" + @en
+ rdfs:label + "ใฟใถใ‚“ใ‹ใ ใ„ใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01601
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_019/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100004
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020325
+ skos:prefLabel + "ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200022 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber88
+ dcterms:description + "ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆLBL๏ผ‰ใฏNHLใซๅฑžใ—ใ€Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆB-LBL๏ผ‰ใฏterminal deoxynucleotidyl transferase๏ผˆTdT๏ผ‰้™ฝๆ€งใงๅ‰้ง†B็ดฐ่ƒžๅž‹ใฎ่กจ็พๅž‹ใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้ชจ้ซ„ใซๆตธๆฝคใŒใ‚ใ‚‹ๅ ดๅˆใ€LBLใจๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…๏ผˆALL๏ผ‰ใฎๆ˜Ž็ขบใชๅŒบๅˆฅใฏ้›ฃใ—ใ„ใŒใ€ๅพ“ๆฅใ€้ชจ้ซ„่Šฝ็ƒใŒ25%ไปฅไธŠใงใ‚ใ‚‹ๅ ดๅˆใ‚’ALLใจใ—ใ€25๏ผ…ๆœชๆบ€ใ‚’LBLใจใ—ใฆใ„ใ‚‹ใ€‚WHOๅˆ†้กžใฏLBLใจALLใ‚’ๅŒใ˜็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200022
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_020_01.pdf
+ rdfs:label + "Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:label + "Precursor B lymphoblastic lymphoma" + @en
+ rdfs:label + "ใณใƒผใ‚Šใ‚“ใฑใŒใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_020/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100004
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020511
+ skos:prefLabel + "Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200023 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber87
+ dcterms:description + "ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆLBL๏ผ‰ใฏNHLใซๅฑžใ—ใ€Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆT-LBL๏ผ‰ใฏterminal deoxynucleotidyl transferase๏ผˆTdT๏ผ‰้™ฝๆ€งใงT็ดฐ่ƒžๅž‹ใฎ่กจ็พๅž‹ใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้ชจ้ซ„ใซๆตธๆฝคใŒใ‚ใ‚‹ๅ ดๅˆใ€LBLใจๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…๏ผˆALL๏ผ‰ใฎๆ˜Ž็ขบใชๅŒบๅˆฅใฏ้›ฃใ—ใ„ใŒใ€ๅพ“ๆฅใ€้ชจ้ซ„่Šฝ็ƒใŒ25%ไปฅไธŠใงใ‚ใ‚‹ๅ ดๅˆใ‚’ALLใจใ—ใ€25๏ผ…ๆœชๆบ€ใ‚’LBLใจใ—ใฆใ„ใ‚‹ใ€‚WHOๅˆ†้กžใฏLBLใจALLใ‚’ๅŒใ˜็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚LBLใฏALLใจใฏๅฏพ็…ง็š„ใซใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใฏใปใจใ‚“ใฉๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใŒใ€ๅฐๅ…T-LBLใซใŠใ„ใฆใฏใ€6็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๅ–ชๅคฑ๏ผˆ6q LOH๏ผ‰ใŒไบˆๅพŒไธ่‰ฏใจ้–ข้€ฃใ—ใ€NOTCH1้บไผๅญๅค‰็•ฐใŒไบˆๅพŒ่‰ฏๅฅฝใจ้–ข้€ฃใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200023
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_021_01.pdf
+ rdfs:label + "Precursor T lymphoblastic lymphoma" + @en
+ rdfs:label + "Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:label + "ใฆใƒใƒผใ‚Šใ‚“ใฑใŒใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_021/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100004
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044917
+ skos:prefLabel + "Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200024 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber89
+ dcterms:description + "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆHodgkin lymphoma, HL๏ผ‰ใฏใƒชใƒณใƒ‘็ฏ€ใพใŸใฏไป–ใฎใƒชใƒณใƒ‘ๆ€ง็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใƒชใƒณใƒ‘ๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€็ต„็น”ๅญฆ็š„ใซReed-Sternberg็ดฐ่ƒžใพใŸใฏใใฎๅค‰็จฎใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใ€็—…็†ๅƒใฎ็›ธ้•ใ‹ใ‚‰็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹HL (nodular lymphocyte predominance Hodgkin lymphoma: NLPHL)ใจๅคๅ…ธ็š„classical (C) HL [ๆททๅˆๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆmixed cellularity: MCCHL๏ผ‰,็ต็ฏ€ๆ€ง็กฌๅŒ–ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆnodular sclerosis: NSCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒ่ฑŠๅฏŒๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte-rich: LRCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒๆธ›ๅฐ‘ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte depletion: LDCHL๏ผ‰]ใซๅคงๅˆฅใ•ใ‚Œใ‚‹1)ใ€‚" + @ja
+ dcterms:identifierNANDO:2200024
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_022_01.pdf
+ rdfs:label + "Hodgkin lymphoma" + @en
+ rdfs:label + "ใปใ˜ใใ‚“ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00007
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_022/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100004
+ skos:altLabel + "HL" + @en
+ skos:altLabel + "Hodgkinใƒชใƒณใƒ‘่…ซ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004952
+ skos:prefLabel + "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200025 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber91
+ dcterms:description + "ๅฐๅ…ใƒชใƒณใƒ‘่…ซใฏใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ (HL)ใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ (NHL)ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใŒใ€NHLใฎใ†ใกๅฐ‘ๆ•ฐไพ‹ใงใฏใ‚ใ‚‹ใŒใ€ๆˆ็†ŸB็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ๏ผŒใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผŒๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซไปฅๅค–ใฎใ‚‚ใฎใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใใ‚Œใ‚‰็จ€ใชใƒชใƒณใƒ‘่…ซใฏใ€ใ™ในใฆใ‚’ๅˆ่จˆใ—ใฆใ‚‚ๅฐๅ…ใƒชใƒณใƒ‘่…ซใฎๆ•ฐ%ใงใ‚ใ‚‹ใŒใ€ๆฏ”่ผƒ็š„ใ‚ˆใใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใจใ—ใฆๆˆ็†ŸB็ดฐ่ƒž็”ฑๆฅใงใฏใ€ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ (FL)๏ผŒๅŽŸ็™บๆ€ง็ธฆ้š”ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ (PMBCL)ใŒใ‚ใ‚Šใ€ใใฎไป–ๆˆ็†ŸT็ดฐ่ƒžใชใฉใ‚’็”ฑๆฅใจใ™ใ‚‹ใ‚‚ใฎใฏใ€ๆœซๆขขๆ€งT็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹ (PTCL-NOS)ใ€็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ(ENKTL)ใ€่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซใ€ใใ—ใฆ็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200025
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
+ rdfs:label + "18ใ‹ใ‚‰22ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:label + "Other malignant lymphomas" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100004
+ skos:prefLabel + "18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200026 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber91
+ dcterms:identifierNANDO:2200026
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
+ rdfs:label + "Pediatric follicular lymphoma" + @en
+ rdfs:label + "ใ—ใ‚‡ใ†ใซใ‚ใปใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200025
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018906
+ skos:prefLabel + "ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200027 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber91
+ dcterms:identifierNANDO:2200027
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
+ rdfs:label + "Extranodal NK/T-cell lymphoma, nasal type" + @en
+ rdfs:label + "ใ›ใคใŒใ„ใ›ใ„ใˆใฌใ‘ใƒผ/ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…-ใฏใชใŒใŸ" + @ja-Hira
+ rdfs:label + "็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200025
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019472
+ skos:prefLabel + "็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200028 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber91
+ dcterms:identifierNANDO:2200028
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
+ rdfs:label + "Peripheral T-cell lymphoma, not otherwise specified" + @en
+ rdfs:label + "ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…-ใฒใจใใฆใ„ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200025
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004964
+ skos:prefLabel + "ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200029 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber91
+ dcterms:identifierNANDO:2200029
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
+ rdfs:label + "Angioimmunoblastic T-cell lymphoma" + @en
+ rdfs:label + "ใ‘ใฃใ‹ใ‚“ใ‚ใ‚“ใˆใใŒใใ‚…ใ†ใ›ใ„ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200025
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004977
+ skos:prefLabel + "่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200030 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber91
+ dcterms:identifierNANDO:2200030
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
+ rdfs:label + "Sucutaneous panniculitis-like T-cell lymphoma" + @en
+ rdfs:label + "ใฒใ‹ใ—ใผใ†ใ—ใใˆใ‚“ใ‚ˆใ†ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200025
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019475
+ skos:prefLabel + "็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200031 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber46
+ dcterms:description + "็ต„็น”็ƒ็—‡ใฏใ€ๆจน็Šถ็ดฐ่ƒžใพใŸใฏใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ็”ฑๆฅใ™ใ‚‹ใจ็ดฐ่ƒžๅข—ๆฎ–ใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2016ๅนดใซHistiocyte Societyใ‹ใ‚‰ๆ–ฐใŸใชๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€๏ผ‘๏ผ‰Langerhans-related (L-Group)ใ€2๏ผ‰Cutaneous and mucocutaneous (C-Group)ใ€3๏ผ‰Malignant histiocytosis (M-Group)ใ€4๏ผ‰Rosai-Dorfman diseaseใ€๏ผ•๏ผ‰Hemophagocytic lymphohistiocytosis (H-Group)ใฎ5ๅˆ†้กžใซๅคงๅˆฅใ•ใ‚ŒใŸใ€‚L-Groupใซๅซใพใ‚Œใ‚‹ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใฏ็ต„็น”็ƒ็—‡ใฎไธญใงๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใใ€็ต„็น”็ƒ็—‡ใฏ๏ผ‘๏ผ‰LCHใจ๏ผ’๏ผ‰้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆNon-LCH๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ [1]ใ€‚" + @ja
+ dcterms:identifierNANDO:2200031
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_024_01.pdf
+ rdfs:label + "Langerhans cell histiocytosis" + @en
+ rdfs:label + "ใ‚‰ใ‚“ใ’ใ‚‹ใฏใ‚“ใ™ใ•ใ„ใผใ†ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01512
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_024/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100005
+ skos:altLabel + "LCH" + @en
+ skos:altLabel + "Langerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017025
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017029
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018310
+ skos:prefLabel + "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200032 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber45
+ dcterms:description + "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200032
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_025_01.pdf
+ rdfs:label + "Hemophagocytic lymphohistiocytosis" + @en
+ rdfs:label + "ใ‘ใฃใใ‚…ใ†ใฉใ‚“ใ—ใ‚‡ใใ›ใ„ใ‚Šใ‚“ใฑใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_025/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100005
+ skos:altLabel + "HLH" + @en
+ skos:altLabel + "Haemophagocytic lymphohistiocytosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015540
+ skos:prefLabel + "่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200033 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber47
+ dcterms:description + "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200033
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
+ rdfs:label + "24ใŠใ‚ˆใณ25ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡" + @ja
+ rdfs:label + "Other histiocytosis" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100005
+ skos:prefLabel + "24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200034 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber47
+ dcterms:identifierNANDO:2200034
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
+ rdfs:label + "Follicular dendritic cell sarcoma" + @en
+ rdfs:label + "ใ‚ใปใ†ใ˜ใ‚…ใ˜ใ‚‡ใ†ใ•ใ„ใผใ†ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200033
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005764
+ skos:prefLabel + "ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200035 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber47
+ dcterms:identifierNANDO:2200035
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
+ rdfs:label + "Interdigitating dendritic cell sarcoma" + @en
+ rdfs:label + "ใ—ใ˜ใ‚‡ใ†ใ‹ใ‚“ใซใ‚…ใ†ใ˜ใ‚…ใ˜ใ‚‡ใ†ใ•ใ„ใผใ†ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200033
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005813
+ skos:prefLabel + "ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200036 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber47
+ dcterms:identifierNANDO:2200036
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
+ rdfs:label + "Langerhans cell sarcoma" + @en
+ rdfs:label + "ใ‚‰ใ‚“ใ’ใ‚‹ใฏใ‚“ใ™ใ•ใ„ใผใ†ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200033
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019480
+ skos:prefLabel + "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200037 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber47
+ dcterms:identifierNANDO:2200037
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
+ rdfs:label + "Juvenile xanthogranuloma" + @en
+ rdfs:label + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใŠใ†ใ—ใ‚‡ใใซใใ’ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200033
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015534
+ skos:prefLabel + "่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200038 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber47
+ dcterms:identifierNANDO:2200038
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
+ rdfs:label + "Erdheim-Chester disease" + @en
+ rdfs:label + "ใˆใ‚‹ใฉใฏใ„ใ‚€ใƒปใกใ‡ใ™ใŸใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02425
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200033
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018153
+ skos:prefLabel + "ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200039 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber47
+ dcterms:identifierNANDO:2200039
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
+ rdfs:label + "Rosai-Dorfman disease" + @en
+ rdfs:label + "ใ‚ใ•ใ„ใƒปใฉใ‚‹ใตใพใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200033
+ skos:altLabel + "RDD" + @en
+ skos:altLabel + "Sinus histiocytosis with massive lymphadenopathy" + @en
+ skos:altLabel + "ๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡ | Rosai-Dorfman็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006412
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044354
+ skos:prefLabel + "ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200040 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber20
+ dcterms:description + "็ฅž็ตŒ่Šฝ่…ซใฏ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญVMA/HVAใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡30๏ฝž40%ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200040
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_027_01.pdf
+ rdfs:label + "Neuroblastoma" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00043
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_027/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005072
+ skos:prefLabel + "็ฅž็ตŒ่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200041 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber21
+ dcterms:description + "็ฅž็ตŒ็ฏ€่Šฝ่…ซใฏ็ฅž็ตŒ่Šฝ่…ซ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญ VMA / HVA ใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡ 30 ๏ฝž 40 % ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200041
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_028_01.pdf
+ rdfs:label + "Ganglioneuroblastoma" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใ›ใคใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ็ฏ€่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_028/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005035
+ skos:prefLabel + "็ฅž็ตŒ็ฏ€่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200042 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber40
+ dcterms:description + "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€่ƒŽๅ…ๆ€ง็ฅž็ตŒ็ถฒ่†œ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚่…ซ็˜ใŒ็‰‡็œผใฎใฟใซ็™บ็—‡ใ™ใ‚‹็‰‡ๅดๆ€ง๏ผˆunilateral๏ผ‰ใจไธก็œผใซ็™บ็—‡ใ™ใ‚‹ไธก็œผๆ€ง๏ผˆbilateral๏ผ‰ใŒใ‚ใ‚‹ใ€‚็œผ็ƒใซ่…ซ็˜ใ‚’ๅ˜ๆ•ฐ่ชใ‚ใ‚‹ๅ˜ๅทฃๆ€ง(unifocal)ใ€ๅคšๆ•ฐๅŒๆ™‚ใซ่ชใ‚ใ‚‹ๅคšๅทฃๆ€ง(multifocal)ใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใฎๆง˜ๅผใซใ‚ˆใ‚Šใ€้บไผๆ€ง(hereditary)ใ€้ž้บไผๆ€ง(non-hereditary)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€13็•ชๆŸ“่‰ฒไฝ“ใฎ้•ท่…•ใฎใƒใƒณใƒ‰14(13q14)ใซๅญ˜ๅœจใ™ใ‚‹็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ้บไผๅญ(RB1้บไผๅญ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚RB๏ผ‘้บไผๅญใฏใ€ใŒใ‚“ๆŠ‘ๅˆถ้บไผๅญใฎๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸ้บไผๅญใงใ‚ใ‚Šใ€็ดฐ่ƒžๅ‘จๆœŸใฎๅˆถๅพกใ‚’ใฏใ˜ใ‚ใ€็ดฐ่ƒžใฎๅˆ†่ฃ‚ๅข—ๆฎ–ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ€‚2ๅฏพใฎ้บไผๅญใฎๅŒๆ–นใซ็•ฐๅธธใŒใŠใ“ใ‚Šใ€ใใฎๆฉŸ่ƒฝใŒๆฌ ๅคฑใ—ใฆ็™บ็—‡ใซใ„ใŸใ‚‹๏ผˆKnudsonใฎ๏ผ’ใƒ’ใƒƒใƒˆ่ชฌ๏ผ‰ใ€‚้บไผๆ€งไพ‹ใงใฏใ€RB๏ผ‘้บไผๅญ็•ฐๅธธใŒใ€ๅ—็ฒพๆ™‚ใซ่ƒš็ดฐ่ƒžใƒฌใƒ™ใƒซใงใŠใ“ใฃใฆใŠใ‚Š๏ผˆgerm line mutation็”Ÿๆฎ–็ดฐ่ƒž็ณปๅˆ—ๅค‰็•ฐ๏ผ‰ใ€ๅ…จ่บซใฎใ‚ใ‚‰ใ‚†ใ‚‹็ดฐ่ƒžใซ้บไผๅญ็•ฐๅธธใ‚’ใ‚‚ใกใ€ๅพŒใซไบŒๆฌกใŒใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚้ž้บไผๆ€งไพ‹ใงใฏใ€ๅ—็ฒพๅพŒใซไฝ“็ดฐ่ƒžใƒฌใƒ™ใƒซใง้บไผๅญ็•ฐๅธธใ‚’ใŠใ“ใ—๏ผˆsomatic mutation ไฝ“็ดฐ่ƒžๅค‰็•ฐ๏ผ‰็™บ็—‡ใซใ„ใŸใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไบŒๆฌกใŒใ‚“ใฎ็™บ็—‡ใฏไธ€่ˆฌไบบใจๅค‰ใ‚ใ‚Šใชใ„ใ€‚" + @ja
+ dcterms:identifierNANDO:2200042
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_029_01.pdf
+ rdfs:label + "Retinoblastoma" + @en
+ rdfs:label + "ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1361
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01513
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_029/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008380
+ skos:prefLabel + "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200043 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber5
+ dcterms:description + "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200043
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_030_01.pdf
+ rdfs:label + "Wilms tumour" + @en
+ rdfs:label + "ใ†ใƒใ‚‹ใ‚€ใ™ใ—ใ‚…ใ‚ˆใ†๏ผใ˜ใ‚“ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_030/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:altLabel + "Nephroblastoma" + @en
+ skos:altLabel + "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜" + @ja
+ skos:altLabel + "่…Ž่Šฝ่…ซ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019004
+ skos:prefLabel + "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200044 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber23
+ dcterms:description + "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200044
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_031_01.pdf
+ rdfs:label + "Clear cell sarcoma of the kidney" + @en
+ rdfs:label + "ใ˜ใ‚“ใ‚ใ„ใ•ใ„ใผใ†ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_031/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005006
+ skos:prefLabel + "่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200045 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber22
+ dcterms:description + "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200045
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_032_01.pdf
+ rdfs:label + "Renal cell carcinoma" + @en
+ rdfs:label + "ใ˜ใ‚“ใ•ใ„ใผใ†ใŒใ‚“" + @ja-Hira
+ rdfs:label + "่…Ž็ดฐ่ƒž็™Œ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00021
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_032/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005086
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005549
+ skos:prefLabel + "่…Ž็ดฐ่ƒž็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200046 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber9
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200046
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_033_01.pdf
+ rdfs:label + "Hepatoblastoma" + @en
+ rdfs:label + "ใ‹ใ‚“ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่‚่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02302
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_033/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018666
+ skos:prefLabel + "่‚่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200047 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber10
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200047
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_034_01.pdf
+ rdfs:label + "Hepatocellular carcinoma" + @en
+ rdfs:label + "ใ‹ใ‚“ใ•ใ„ใผใ†ใŒใ‚“" + @ja-Hira
+ rdfs:label + "่‚็ดฐ่ƒž็™Œ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00048
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_034/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007256
+ skos:prefLabel + "่‚็ดฐ่ƒž็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200048 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber15
+ dcterms:description + "้ชจ่‚‰่…ซ๏ผˆosteosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจใ‚’ๅฝขๆˆใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่ก€็ฎกๆ‹กๅผตๅž‹้ชจ่‚‰่…ซ๏ผŒๅฐ็ดฐ่ƒžๅž‹้ชจ่‚‰่…ซ๏ผŒไฝŽๆ‚ชๆ€งๅบฆไธญๅฟƒๆ€ง้ชจ่‚‰่…ซ๏ผŒๆ”พๅฐ„็ทš็…งๅฐ„ๅพŒใ‚„Paget็—…ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€ง้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใฏ็ต„็น”ๅญฆ็š„ใซosteoblastic type๏ผŒchondroblastic type๏ผŒfibroblastic typeใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ" + @ja
+ dcterms:identifierNANDO:2200048
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_035_01.pdf
+ rdfs:label + "Osteosarcoma" + @en
+ rdfs:label + "ใ“ใคใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้ชจ่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00036
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_035/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002623
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009807
+ skos:prefLabel + "้ชจ่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200049 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber14
+ dcterms:description + "้ชจ่ปŸ้ชจ่…ซ๏ผˆosteochondroma๏ผ‰ใจใฏ้•ท็ฎก้ชจใฎๆˆ้•ท่ปŸ้ชจๅ‘จๅ›ฒใซ็™บ็”Ÿใ™ใ‚‹่ปŸ้ชจๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚Š๏ผŒ้ชจใฎๅค–ๅดใซๅ‘ใ‹ใฃใฆ้š†่ตทๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ“ใจใ‹ใ‚‰ๅค–้ชจ่…ซ๏ผˆexostosis๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผŽ็•ฐๆ‰€ๆ€งใซๆˆ้•ท่ปŸ้ชจๆง˜่ปŸ้ชจ็ดฐ่ƒž้›†ๅ›ฃใŒ็™บ็”Ÿใ—๏ผŒๆˆ้•ทใซไผดใฃใฆๆˆ้•ท่ปŸ้ชจใจๅŒๆง˜ใซ่ปŸ้ชจๅข—ๆฎ–ใจ่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ่ตทใใ‚‹ใŸใ‚๏ผŒใใฎๅ…ˆ็ซฏใซ่ปŸ้ชจๅธฝใจใ‚ˆใฐใ‚Œใ‚‹่ปŸ้ชจ็ต„็น”ใ‚’ๆœ‰ใ™ใ‚‹้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹๏ผŽๅ…ธๅž‹็š„ใชๅ˜็ด”X็ทšๅƒใฏ้•ท็ฎก้ชจ้ชจ็ซฏๅ‘จๅ›ฒใฎ้ชจใจใฎ้€ฃ็ถšๆ€งใ‚’ๆœ‰ใ™ใ‚‹ๆœ‰่ŒŽๆ€งใพใŸใฏๅบƒๅŸบๆ€งใฎ้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใงใ‚ใ‚‹๏ผŽ่ปŸ้ชจๅธฝใฏๅ˜็ด”X็ทšใงใฏๅŒๅฎšใงใใชใ„ใŒ๏ผŒ็Ÿณ็ฐๅŒ–ใซใ‚ˆใ‚Š็ขบ่ชใงใใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ชจ่ปŸ้ชจ่…ซใฏๅ˜็™บๆ€ง๏ผŒๅคš็™บๆ€งใŒใ‚ใ‚‹๏ผŽๅ˜็™บๆ€งใฏ้€šๅธธๅญค็™บๆ€งใงใ‚ใ‚Š๏ผŒๅคš็™บๆ€งใฏ90%ใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹๏ผŽๅฎถๆ—ๆ€งใซ็™บ็”Ÿใ™ใ‚‹ๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚’ๅ…ˆๅคฉๆ€งๅคš็™บๆ€งๅค–้ชจ่…ซ๏ผˆhereditary multiple exostosis: HME๏ผ‰ใจๅ‘ผใถ๏ผŽ" + @ja
+ dcterms:identifierNANDO:2200049
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_036_01.pdf
+ rdfs:label + "Osteochondromatosis" + @en
+ rdfs:label + "ใ“ใคใชใ‚“ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจ่ปŸ้ชจ่…ซ็—‡" + @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1133
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_036/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005508
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008145
+ skos:prefLabel + "้ชจ่ปŸ้ชจ่…ซ็—‡" + @ja
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http://nanbyodata.jp/ontology/NANDO_2200050 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber32
+ dcterms:description + "่ปŸ้ชจ่‚‰่…ซ๏ผˆchondrosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใ‚’ไผดใ†ใŒ๏ผŒ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’ไผดใ‚ใชใ„ๆ‚ชๆ€ง้ชจ่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใจ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใฏ้ชจ่‚‰่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผ‰๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่„ฑๅˆ†ๅŒ–ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒ้–“่‘‰ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒๆทกๆ˜Ž็ดฐ่ƒžๅž‹่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใฏ็ดฐ่ƒžๅฏ†ๅบฆใ‚„ๆ ธ็•ฐๅž‹๏ผŒ้ชจๆขใธใฎๆตธๆฝคใชใฉใฎๆ‰€่ฆ‹ใ‹ใ‚‰ไฝŽๆ‚ชๆ€งๅบฆใฎgrade 1๏ผŒ้ซ˜ๆ‚ชๆ€งๅบฆใฎgrade 2๏ผŒgrade 3ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใซใฏ๏ผŒๅŽŸ็™บๆ€ง่ปŸ้ชจ่‚‰่…ซใจๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚„ๅคš็™บๆ€งๅ†…่ปŸ้ชจ่…ซใชใฉใฎๅ…ˆ่กŒ็—…ๅค‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไบŒๆฌกๆ€ง่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ" + @ja
+ dcterms:identifierNANDO:2200050
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_037_01.pdf
+ rdfs:label + "Chondrosarcoma" + @en
+ rdfs:label + "ใชใ‚“ใ“ใคใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่ปŸ้ชจ่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_037/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008977
+ skos:prefLabel + "่ปŸ้ชจ่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200051 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber31
+ dcterms:description + "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ๏ผˆchondroblastoma๏ผ‰ใฏ๏ผŒๅฐๅ…ใฎ้•ท็ฎก้ชจ้ชจ็ซฏ้ƒจใซๅฅฝ็™บใ™ใ‚‹่ปŸ้ชจๅฝขๆˆๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚‹๏ผŽ็ต„็น”ๅญฆ็š„ใซใฏ็ ด้ชจ็ดฐ่ƒžๅž‹ๅคšๆ ธๅทจ็ดฐ่ƒžใจๅ††ๅฝขใพใŸใฏๅคš่ง’ๅฝขใฎ่ปŸ้ชจ่Šฝ็ดฐ่ƒžๆง˜็ดฐ่ƒžใงๆง‹ๆˆใ•ใ‚Œใ‚‹็ดฐ่ƒžๅฏ†ๅบฆใฎ้ซ˜ใ„ๆฏ”่ผƒ็š„ๆœชๅˆ†ๅŒ–ใช็ต„็น”ใ‚’็‰นๅพดใจใ—๏ผŒ็Ÿณ็ฐๅŒ–ๅทฃใ‚’ไผดใฃใŸ่ปŸ้ชจๆ€งใฎ้–“่ณชใ‚’ไผดใ†่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ" + @ja
+ dcterms:identifierNANDO:2200051
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_038_01.pdf
+ rdfs:label + "Chondroblastoma" + @en
+ rdfs:label + "ใชใ‚“ใ“ใคใŒใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_038/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004997
+ skos:prefLabel + "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ" + @ja
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http://nanbyodata.jp/ontology/NANDO_2200052 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber3
+ dcterms:description + "้ชจๅทจ็ดฐ่ƒž่…ซ๏ผˆgiant cell tumor of bone๏ผšGCT of bone๏ผ‰ใฏ้กžๅ††ๅฝขใฎๅ˜ๆ ธ่…ซ็˜็ดฐ่ƒžใจๆ•ฃๅœจใ™ใ‚‹ๅคงๅž‹ใฎ็ ด้ชจ็ดฐ่ƒžๆง˜ๅทจ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽใพใ‚Œใซ้ชจๅทจ็ดฐ่ƒž่…ซๅ†…ใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒไฝตๅญ˜ใ—ใŸใ‚Š๏ผˆไธ€ๆฌกๆ€ง๏ผ‰๏ผŒไปฅๅ‰ๅ…ธๅž‹็š„ใช้ชจๅทจ็ดฐ่ƒž่…ซใŒๅญ˜ๅœจใ—ใŸ้ƒจไฝใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒ็™บ็”Ÿใ™ใ‚‹๏ผˆไบŒๆฌกๆ€ง๏ผ‰ใ“ใจใŒใ‚ใ‚Š๏ผŒๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใ‚‹๏ผŽๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใฎๅคง้ƒจๅˆ†ใฏไบŒๆฌกๆ€งใงใ‚ใ‚Š๏ผŒใใฎๅคšใใฏๆ”พๅฐ„็ทšๆฒป็™‚ๅพŒใซ็™บ็”Ÿใ—ใŸใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ2013ๅนด็‰ˆใฎWHOๅˆ†้กžใงใฏไธก่€…ใฏโ€œMalignancy in GCTโ€ใจ็ท็งฐใ•ใ‚ŒใŸ๏ผŽ" + @ja
+ dcterms:identifierNANDO:2200052
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_039_01.pdf
+ rdfs:label + "Malignancy in giant cell tumour of bone" + @en
+ rdfs:label + "ใ‚ใใ›ใ„ใ“ใคใใ‚‡ใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_039/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006287
+ skos:prefLabel + "ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ" + @ja
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http://nanbyodata.jp/ontology/NANDO_2200053 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber41
+ dcterms:description + "Ewing่‚‰่…ซ (Ewing Sarcoma)ใฏใ€ไธปใซๅฐๅ…ใ‹ใ‚‰่‹ฅๅนดๆˆไบบใซๅคšใ็™บ็—‡ใ™ใ‚‹้ชจ่ปŸ้ƒจ่‚‰่…ซใงใ‚ใ‚‹ใ€‚1921ๅนดใ€James Ewingใซใ‚ˆใ‚Šใ€้ชจ่‚‰่…ซใจใฏ็—…็†ๅญฆ็š„ใซๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใ‚‹้ชจๅŽŸ็™บใฎๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ“ใฎ้ชจๅŽŸ็™บใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ€้ชจๅค–ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใ€ๆœซๆขขๆ€งๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor; pPNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅพŒใซ็—…็†ๅญฆ็š„ใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing sarcoma family of tumors, ESFT)ใจ็งฐใ•ใ‚Œใ‚‹ใ€‚ESFTใฏใ€FET้บไผๅญใƒ•ใ‚กใƒŸใƒชใƒผ๏ผˆTLS/FUS, EWS(EWSR1), TAF15ใชใฉ๏ผ‰ใจETS้บไผๅญใƒ•ใ‚กใƒŸใƒชใƒผ๏ผˆFLI1, ERG, ETV1ใชใฉ๏ผ‰ใŒ่žๅˆใ—ใŸใ‚ญใƒกใƒฉ้บไผๅญใ‚’ใ‚‚ใกใ€ใใฎๅ†…่จณใฏEWS-FLI1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1(<1%)ใ€EWS-FEV(<1%)ใ€ใใฎไป–ใจใชใฃใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200053
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_040_01.pdf
+ rdfs:label + "Ewing's sarcoma" + @en
+ rdfs:label + "ใ‚†ใƒผใ„ใ‚“ใใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00035
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_040/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:altLabel + "Ewing่‚‰่…ซ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012817
+ skos:prefLabel + "ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200054 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber36
+ dcterms:description + "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200054
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf
+ rdfs:label + "primitive neuroectodermal tumors" + @en
+ rdfs:label + "ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฎใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆๆœซๆขขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_041/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:prefLabel + "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆๆœซๆขขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200055 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber36
+ dcterms:identifierNANDO:2200055
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf
+ rdfs:label + "Peripheral primitive neuroectodermal tumors" + @en
+ rdfs:label + "ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_041/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200054
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018271
+ skos:prefLabel + "ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200056 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber6
+ dcterms:description + "ๅฐ†ๆฅ้ชจๆ ผ็ญ‹ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ‚ชๆ€ง่ปขๅŒ–ๅพŒใซ้ชจๆ ผ็ญ‹ๅˆ†ๅŒ–่ƒฝใ‚’็™บ็พใ—ใŸ่ƒŽๅ…ใฎไธญ่ƒš่‘‰ใพใŸใฏ้–“่‘‰็ต„็น”ใซ็”ฑๆฅใ™ใ‚‹ใ€้ชจๆ ผ็ญ‹ใฎๅฝข่ณชใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200056
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_042_01.pdf
+ rdfs:label + "Rhabdomyosarcoma" + @en
+ rdfs:label + "ใŠใ†ใ‚‚ใ‚“ใใ‚“ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆจช็ด‹็ญ‹่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00037
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_042/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005212
+ skos:prefLabel + "ๆจช็ด‹็ญ‹่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200057 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber4
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏไธปใซ่…Žใ€่‚ใ€่ปŸ้ƒจ็ต„็น”ใ€ไธญๆžข็ฅž็ตŒใชใฉไฝ“ใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใจ่…Žใชใฉ่ค‡ๆ•ฐใซๅŒๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใ„ใฃใŸ็—…ๆ…‹ใซใคใ„ใฆใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚1978ๅนดใซBeckwithใ‚‰ใซใ‚ˆใฃใฆใ€ๅฐๅ…่…Ž่…ซ็˜ใฎไธญใงไบˆๅพŒไธ่‰ฏๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œmalignant rhabdoid tumor of the kidneyใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€ๆ—ฅๆœฌใงใฏๆ‚ชๆ€งๆจช็ด‹็ญ‹่‚‰่…ซๆง˜่…ซ็˜ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ•ใ‚Œใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€้กžๅ††ๅฝขใฎ่…ซๅคงใ—ใŸๆ ธใจ็ดฐ่ƒž่ณชใซๅฅฝ้…ธๆ€ง็ดฐ่ƒž่ณชๅฐๅ…ฅไฝ“ใ‚’ๆœ‰ใ™ใ‚‹ๅ††ๅฝขใฎ ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰็ดฐ่ƒžใŒ็‰นๅพดใงใ€ๅฅฝ้…ธๆ€งๅฐๅ…ฅไฝ“ใฏ็›ดๅพ„ 10nm ใฎไธญ้–“ๅพ„ใƒ•ใ‚ฃใƒฉใƒกใƒณใƒˆใฎใ‹ใ‚‰ใชใฃใฆใ„ใ‚‹ใ€‚1982ๅนดใซGonzalez-Crussiใ‚‰ใซใ‚ˆใฃใฆ่‚ใ‚„่ปŸ้ƒจ็ต„็น”ใชใฉ่…Žๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใคใ„ใง1987ๅนดใซBiggsใ‚‰ใซใ‚ˆใฃใฆไธญๆžข็ฅž็ตŒใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใŒใ€Atypical teratoid/rhabdoid tumor (AT/RT) ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซRorkeใ‚‰ใซใ‚ˆใฃใฆAT/RTใฏ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚1998ๅนดใซVersteegeใ‚‰ใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใซใŠใ„ใฆ22q11.23ไธŠใซๅญ˜ๅœจใ™ใ‚‹hSNF5/INI-1้บไผๅญใฎๅค‰็•ฐใ‚’ๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒใฎsnf5/ini1ใƒŽใƒƒใ‚ฏใ‚ขใ‚ฆใƒˆใƒžใ‚ฆใ‚นใซใŠใ„ใฆใƒžใ‚ฆใ‚นใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็”ŸใŒๅ ฑๅ‘Šใ•ใ‚Œใ€hSNF5/INI-1้บไผๅญใฏ็™ŒๆŠ‘ๅˆถ้บไผๅญใจใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฎๆฌ ๅคฑใƒปๅค‰็•ฐใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€hSNF5/INI-1้บไผๅญใฎ็•ฐๅธธใฏ่…ซ็˜ใฎใฟใชใ‚‰ใšใ€็ด„30๏ผ…็จ‹ๅบฆใฎ็—‡ไพ‹ใงgermlineใงใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใใฎไธ€้ƒจใซๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200057
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_043_01.pdf
+ rdfs:label + "Malignant rhabdoid tumour" + @en
+ rdfs:label + "ใ‚ใใ›ใ„ใ‚‰ใถใฉใ„ใฉใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_043/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002728
+ skos:prefLabel + "ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200058 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber37
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200058
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_044_01.pdf
+ rdfs:label + "Undifferentiated sarcoma" + @en
+ rdfs:label + "ใฟใถใ‚“ใ‹ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆœชๅˆ†ๅŒ–่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_044/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005102
+ skos:prefLabel + "ๆœชๅˆ†ๅŒ–่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200059 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber26
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200059
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_045_01.pdf
+ rdfs:label + "Dermatofibrosarcoma protuberans" + @en
+ rdfs:label + "ใ›ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ—ใ‚‡ใ†ใˆใ‚“ใ‘ใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_045/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:altLabel + "DSRCT" + @en
+ skos:altLabel + "Desmoplastic small round cell tumors" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011934
+ skos:prefLabel + "็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200060 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber27
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200060
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_046_01.pdf
+ rdfs:label + "Fibrosarcoma" + @en
+ rdfs:label + "ใ›ใ‚“ใ„ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็ทš็ถญ่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_046/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002676
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002678
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005164
+ skos:prefLabel + "็ทš็ถญ่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200061 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber8
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200061
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_047_01.pdf
+ rdfs:label + "Synovial sarcoma" + @en
+ rdfs:label + "ใ‹ใคใพใใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆป‘่†œ่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00050
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_047/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010434
+ skos:prefLabel + "ๆป‘่†œ่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200062 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber39
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200062
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_048_01.pdf
+ rdfs:label + "Clear cell sarcoma" + @en
+ rdfs:label + "ใ‚ใ„ใ•ใ„ใผใ†ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00052
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_048/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002926
+ skos:prefLabel + "ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200063 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber35
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200063
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_049_01.pdf
+ rdfs:label + "Alveolar soft part sarcoma" + @en
+ rdfs:label + "ใปใ†ใใ†ใ˜ใ‚‡ใ†ใชใ‚“ใถใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00051
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_049/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011655
+ skos:prefLabel + "่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200064 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber34
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200064
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_050_01.pdf
+ rdfs:label + "Leiomyosarcoma" + @en
+ rdfs:label + "ใธใ„ใ‹ใคใใ‚“ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๅนณๆป‘็ญ‹่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_050/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005058
+ skos:prefLabel + "ๅนณๆป‘็ญ‹่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200065 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber17
+ dcterms:description + "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200065
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_051_01.pdf
+ rdfs:label + "Liposarcoma" + @en
+ rdfs:label + "ใ—ใผใ†ใซใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่„‚่‚ช่‚‰่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_051/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003585
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003587
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005060
+ skos:prefLabel + "่„‚่‚ช่‚‰่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200066 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber38
+ dcterms:description + "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200066
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_052_01.pdf
+ rdfs:label + "Dysgerminoma" + @en
+ rdfs:label + "ใฟใถใ‚“ใ‹ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_052/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003002
+ skos:prefLabel + "ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200067 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber28
+ dcterms:description + "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200067
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_053_01.pdf
+ rdfs:label + "Embryonal carcinoma" + @en
+ rdfs:label + "ใŸใ„ใ˜ใ›ใ„ใŒใ‚“" + @ja-Hira
+ rdfs:label + "่ƒŽๅ…ๆ€ง็™Œ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_053/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005440
+ skos:prefLabel + "่ƒŽๅ…ๆ€ง็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200068 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber30
+ dcterms:description + "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200068
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_054_01.pdf
+ rdfs:label + "Polyembryoma" + @en
+ rdfs:label + "ใŸใŸใ„ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๅคš่ƒŽ่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_054/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015863
+ skos:prefLabel + "ๅคš่ƒŽ่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200069 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber42
+ dcterms:description + "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200069
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_055_01.pdf
+ rdfs:label + "Yolk sac tumour" + @en
+ rdfs:label + "ใ‚‰ใ‚“ใŠใ†ใฎใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๅต้ป„ๅšข่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_055/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:altLabel + "ๅต้ป„ๅšข่…ซ็˜" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005744
+ skos:prefLabel + "ๅต้ป„ๅšข่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200070 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber18
+ dcterms:description + "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200070
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_056_01.pdf
+ rdfs:label + "Choriocarcinoma" + @en
+ rdfs:label + "ใ˜ใ‚…ใ†ใ‚‚ใ†ใŒใ‚“" + @ja-Hira
+ rdfs:label + "็ตจๆฏ›็™Œ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00028
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_056/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005207
+ skos:prefLabel + "็ตจๆฏ›็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200071 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber16
+ dcterms:description + "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200071
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_057_01.pdf
+ rdfs:label + "Mixed germ cell tumour" + @en
+ rdfs:label + "ใ“ใ‚“ใ”ใ†ใ›ใ„ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_057/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015864
+ skos:prefLabel + "ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200072 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber25
+ dcterms:description + "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200072
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_058_01.pdf
+ rdfs:label + "Sex-cord stromal tumour" + @en
+ rdfs:label + "ใ›ใ„ใ•ใใ‹ใ‚“ใ—ใคใ›ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_058/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006055
+ skos:prefLabel + "ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200073 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber33
+ dcterms:description + "ๅ‰ฏ่…Ž็šฎ่ณชใซ็™บ็”Ÿใ™ใ‚‹็จ€ใชๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200073
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_059_01.pdf
+ rdfs:label + "Adrenocortical carcinoma" + @en
+ rdfs:label + "ใตใใ˜ใ‚“ใฒใ—ใคใŒใ‚“" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็šฎ่ณช็™Œ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_059/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006639
+ skos:prefLabel + "ๅ‰ฏ่…Ž็šฎ่ณช็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200074 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber13
+ dcterms:description + "็”ฒ็Šถ่…บ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ€ๆง˜ใ€…ใช็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200074
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_060_01.pdf
+ rdfs:label + "Thyroid cancer" + @en
+ rdfs:label + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใŒใ‚“" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บ็™Œ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00032
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_060/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002108
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015075
+ skos:prefLabel + "็”ฒ็Šถ่…บ็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200075 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber19
+ dcterms:description + "ใŠใŠใ‚ˆใ็กฌๅฃ่“‹ใจ่ปŸๅฃ่“‹ใฎๆŽฅๅˆ้ƒจใฎ้ซ˜ใ•ใ‹ใ‚‰้ ญ่“‹ๅบ•ใพใงใฎไธŠๅ’ฝ้ ญใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ๆŒ‡ใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200075
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_061_01.pdf
+ rdfs:label + "Epipharyngeal carcinoma" + @en
+ rdfs:label + "ใ˜ใ‚‡ใ†ใ„ใ‚“ใจใ†ใŒใ‚“" + @ja-Hira
+ rdfs:label + "ไธŠๅ’ฝ้ ญ็™Œ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_061/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015459
+ skos:prefLabel + "ไธŠๅ’ฝ้ ญ็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200076 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber29
+ dcterms:description + "ๅคงๅ”พๆถฒ่…บ๏ผˆ่€ณไธ‹่…บใ€้กŽไธ‹่…บใ€่ˆŒไธ‹่…บ๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ใ•ใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200076
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_062_01.pdf
+ rdfs:label + "Salivary grand carcinoma" + @en
+ rdfs:label + "ใ ใˆใใ›ใ‚“ใŒใ‚“" + @ja-Hira
+ rdfs:label + "ๅ”พๆถฒ่…บ็™Œ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01508
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_062/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000521
+ skos:prefLabel + "ๅ”พๆถฒ่…บ็™Œ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200077 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber2
+ dcterms:description + "ใƒกใƒฉใƒŽใ‚ตใ‚คใƒˆ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200077
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_063_01.pdf
+ rdfs:label + "Malignant melanoma" + @en
+ rdfs:label + "ใ‚ใใ›ใ„ใ“ใใ—ใ‚‡ใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00038
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_063/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005105
+ skos:prefLabel + "ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200078 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber7
+ dcterms:description + "ๅ‰ฏ่…Ž้ซ„่ณชใฎใ‚ฏใƒญใƒ ่ฆชๅ’Œๆ€ง็ดฐ่ƒžใ‹ใ‚‰็”Ÿใ˜ใŸ่…ซ็˜ใ€‚ๅ‚็ฅž็ตŒ็ฏ€ใ‹ใ‚‰็”Ÿใ˜ใŸใ‚‚ใฎใฏ็‰นใซๅ‚็ฅž็ตŒ็ฏ€่…ซ๏ผˆใƒ‘ใƒฉใ‚ฌใƒณใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใ‚‚ๆคœๆŸปใƒ‡ใƒผใ‚ฟไธŠใ‚‚ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ไผดใ†ๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใ€ใใ†ใงใฏใชใ„้žๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๅ‚็ฅž็ตŒ็ฏ€่…ซใงใฏใ€ไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใจๅ‰ฏไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200078
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_064_01.pdf
+ rdfs:label + "Pheochromocytoma" + @en
+ rdfs:label + "ใ‹ใฃใ—ใ‚‡ใใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่ค่‰ฒ็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_064/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004974
+ skos:prefLabel + "่ค่‰ฒ็ดฐ่ƒž่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200079 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber1
+ dcterms:description + "่ƒธ่…บไธŠ็šฎ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใซ้ซ˜ๅบฆใฎ็•ฐๅž‹ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’่ƒธ่…บ่…ซใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใŒๆ˜Žใ‚‰ใ‹ใช็•ฐๅž‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’่ƒธ่…บ็™Œใจใ„ใ†ใ€‚ใพใŸใ€่ƒธ่…บ่…ซใฎไธญใซใ‚‚ๅ‘จๅ›ฒ็ต„็น”ใธๆตธๆฝคใ—้ ้š”่ปข็งปใ‚’ใใŸใ™ๅฏ่ƒฝๆ€งใฎใ‚ใ‚‹ใ‚‚ใฎใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200079
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_065_01.pdf
+ rdfs:label + "Malignant thymoma" + @en
+ rdfs:label + "ใ‚ใใ›ใ„ใใ‚‡ใ†ใ›ใ‚“ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€ง่ƒธ่…บ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_065/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006451
+ skos:prefLabel + "ๆ‚ชๆ€ง่ƒธ่…บ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200080 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber12
+ dcterms:description + "ไนณๅนผๅ…ๆœŸใฎ่‚บใ‚„็จ€ใซใฏๅฃๅด่ƒธ่†œใซ็™บ็”Ÿใ™ใ‚‹่ƒŽๅ…ๆ€งๆ‚ชๆ€ง่…ซ็˜ใ€‚" + @ja
+ dcterms:identifierNANDO:2200080
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_066_01.pdf
+ rdfs:label + "Pleuropulmonaryblastoma" + @en
+ rdfs:label + "ใใ‚‡ใ†ใพใใฏใ„ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่ƒธ่†œ่‚บ่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_066/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:altLabel + "Pleuropulmonary blastoma" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011014
+ skos:prefLabel + "่ƒธ่†œ่‚บ่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200081 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber11
+ dcterms:description + "ๆฐ—็ฎกๆ”ฏใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ€็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใ ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200081
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_067_01.pdf
+ rdfs:label + "Bronchial tumour" + @en
+ rdfs:label + "ใใ‹ใ‚“ใ—ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎกๆ”ฏ่…ซ็˜" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_067/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002807
+ skos:prefLabel + "ๆฐ—็ฎกๆ”ฏ่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200082 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber24
+ dcterms:description + "็™บ็”ŸๅˆๆœŸใฎ่†ต็ต„็น”ใซ้กžไผผใ—ใ€ๅฐๅ…ๆœŸใซๅฅฝ็™บใ™ใ‚‹ๅˆ†ๅŒ–ๆ–นๅ‘ไธๆ˜ŽใชไธŠ็šฎๆ€ง่†ต่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200082
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_068_01.pdf
+ rdfs:label + "Pancreatoblastoma" + @en
+ rdfs:label + "ใ™ใ„ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่†ต่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_068/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019035
+ skos:prefLabel + "่†ต่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200083 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber43
+ dcterms:description + "ๅ‰่ฟฐใ•ใ‚ŒใŸไปฅๅค–ใฎๅ›บๅฝข่…ซ็˜ใ€‚" + @ja
+ dcterms:identifierNANDO:2200083
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_069_01.pdf
+ rdfs:label + "27ใ‹ใ‚‰68ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜" + @ja
+ rdfs:label + "Other solid tumours" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_069/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100006
+ skos:prefLabel + "27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200084 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber68
+ dcterms:description + "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใใฎใ†ใกๆœ€ใ‚‚ๆ‚ชๆ€งๅบฆใฏไฝŽใใ€WHOๅˆ†้กžใ‚ฐใƒฌใƒผใƒ‰โ… ใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๅขƒ็•Œๆ˜Ž็žญใงใ€ๅข—ๅคงใฏ็ทฉๅพใ€ใ—ใฐใ—ใฐๅšข่ƒžใ‚’ไผดใฃใฆใ€ๅฐๅ…ใ‚„่‹ฅๅนดๆˆไบบใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่…ซ็˜็ดฐ่ƒžใฏๅตๅ††ๅฝขใฎๆ ธใ‚’ๆœ‰ใ—ใฆ้•ทใไผธใณใ€ๆฏ›ใซไผผใŸๅค–่ฆณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200084
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_070_01.pdf
+ rdfs:label + "Pilocytic astrocytoma" + @en
+ rdfs:label + "ใ‚‚ใ†ใ‚ˆใ†ใ•ใ„ใผใ†ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_070/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004000
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016691
+ skos:prefLabel + "ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200085 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber64
+ dcterms:description + "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ใใฎใ†ใกใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏWHOๅˆ†้กžๆ‚ชๆ€งๅบฆโ…กใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏ่‹ฅๅนดๆˆไบบใซๅคšใใ€ๅข—ๅคงใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใฎใฉใฎ้ƒจๅˆ†ใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€ใƒ†ใƒณใƒˆไธŠใฎใ“ใจใŒๅคšใ„ใ€‚้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใ‚„่† ่Šฝ่…ซใจใ„ใฃใŸ้ซ˜ๆ‚ชๆ€งๅบฆใ‚ฐใƒชใ‚ชใƒผใƒžใซ่ปขๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200085
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_071_01.pdf
+ rdfs:label + "Diffuse astrocytoma" + @en
+ rdfs:label + "ใณใพใ‚“ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_071/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016686
+ skos:prefLabel + "ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200086 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber63
+ dcterms:description + "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€้€€่กŒๅฝขๆˆๆ‰€่ฆ‹ใจๅข—ๆฎ–่ƒฝใฎไบข้€ฒใ‚’็คบใ™ๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€่„ณๅ†…ใซใณใพใ‚“ๆ€งใซๆตธๆฝคใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IIIใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚่† ่Šฝ่…ซใธใจ้€ฒๅฑ•ใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใ€ๆ ธใฎๅคšๅฝขๆˆใ€‚ใ‚ฏใƒญใƒžใƒใƒณ้‡ใ€ๆ ธ็ดฐ่ƒž่ณชๆฏ”ใชใฉใŒ้ซ˜ใใ€ๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅฃŠๆญปๅทฃใฏ่ชใ‚ใชใ„ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200086
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_072_01.pdf
+ rdfs:label + "Anaplastic astrocytoma" + @en
+ rdfs:label + "ใŸใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_072/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016684
+ skos:prefLabel + "้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200087 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber52
+ dcterms:description + "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€่† ่Šฝ่…ซใฏ่‘—ๆ˜Žใช้€€ๅฝขๆˆใจ้ซ˜ใ„ๅข—ๆฎ–ๆดปๆ€งใ‚’็คบใ™่† ่…ซใงใ€่„ณๅฎŸ่ณชๅ†…ใซๆตธๆฝคๆ€ง็ ดๅฃŠๆ€งใซๅข—ๆฎ–ใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IVใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใŒ้ซ˜ใใ€ๆง‹ๆˆ็ดฐ่ƒžใฏๅคš็จฎๅคšๆง˜ใฎๅฝขๆ…‹ใ‚’็คบใ™ใ€‚ๆ ธๅˆ†่ฃ‚ๅƒใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใ‚‹ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200087
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_073_01.pdf
+ rdfs:label + "Glioblastoma" + @en
+ rdfs:label + "ใ“ใ†ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่† ่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_073/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018177
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020690
+ skos:prefLabel + "่† ่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200088 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber53
+ dcterms:description + "ไธŠ่กฃ่…ซใฏ่„ณๅฎคใ€่„Š้ซ„ไธญๅฟƒ้ƒจใฎ่กจ้ขใ‚’่ฆ†ใฃใฆใ„ใ‚‹ไธŠ่กฃ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใจใƒ†ใƒณใƒˆไธ‹ใงใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ไธŠ่กฃ่…ซใงใ‚ใฃใฆใ‚‚ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏ็•ฐใชใ‚‹ใ€‚็—…็†ๆ‰€่ฆ‹ใงใฏ้กžๅ††ๅฝขๆ ธใจๅขƒ็•Œใฎไธๆ˜Ž็žญใชๅผฑๅฅฝ้…ธๆ€งใฎ็ดฐ่ƒž่ณชใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่ƒžใŒใณใพใ‚“ๆ€งใซๅข—ๆฎ–ใ—ใ€่ก€็ฎกๅ‘จๅ›ฒๆ€งๅฝใƒญใ‚ผใƒƒใƒˆใ‚„ไธŠ่กฃใƒญใ‚ผใƒƒใƒˆใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใŒ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚้€€ๅฝขๆˆๆ€งใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏ้€€ๅฝขๆˆๆ€งไธŠ่กฃ่…ซใงใ‚ใ‚Šใ€ไธŠ่กฃ่…ซใฏWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใงใ‚ใ‚‹ใฎใซๅฏพใ—ใ€ใ‚ฐใƒฌใƒผใƒ‰ IIIใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200088
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_074_01.pdf
+ rdfs:label + "Ependymoma" + @en
+ rdfs:label + "ใ˜ใ‚‡ใ†ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ไธŠ่กฃ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_074/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016698
+ skos:prefLabel + "ไธŠ่กฃ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200089 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber65
+ dcterms:description + "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไน็ช่ตท่† ็ดฐ่ƒž็”ฑๆฅใฎไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ€ๅฐๅ…ใฎ่„ณ่…ซ็˜ใงใฏๆฅตใ‚ใฆใพใ‚Œใชใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€ไน็ช่ตท่† ็ดฐ่ƒžใซ้กžไผผใ—ใŸไธญๅฟƒๆ€งใฎ้กžๅ††ๅฝขๆ ธใจๆทกๆ˜Žใช็ดฐ่ƒž่ณชใ‚’ๆŒใกใ€็ดฐ่ƒžใฎ่ผช้ƒญใŒๆ˜Ž็ขบใช่…ซ็˜็ดฐ่ƒžใŒๅ‡ไธ€ใซๅˆ†ๅธƒใ—ใ€็ดฐ่ƒžๅฏ†ๅบฆใฏใ‚„ใ‚„้ซ˜ใ„ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ•ใ‚‰ใซๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ไน็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰II๏ผ‰ใจไน้€€ๅฝขๆˆๆ€ง็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰III๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200089
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_075_01.pdf
+ rdfs:label + "Oligodendroglioma" + @en
+ rdfs:label + "ใผใ†ใจใฃใใ—ใ‚“ใ‘ใ„ใ“ใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ไน็ช่ตท็ฅž็ตŒ่† ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_075/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:altLabel + "ไน็ช่ตท่† ่…ซ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002540
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002543
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016695
+ skos:prefLabel + "ไน็ช่ตท็ฅž็ตŒ่† ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200090 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber58
+ dcterms:description + "ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ่“‹็ชฉใซ็™บ็”Ÿใ—ๆœชๅˆ†ๅŒ–ใชๅฐๅž‹็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹ใŒใ€่ตทๆบ็ดฐ่ƒžใซใฏ่ซธ่ชฌใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใใ€ๅˆ็™บๆ™‚ๆ‚ฃ่€…ใฎ15โˆ’40๏ผ…ใซ้ซ„่…”ๅ†…ๆ’ญ็จฎใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€WHOๅˆ†้กžใซใ‚ˆใ‚‹ใจใ€ๆฌกใฎ5ใคใฎ็ต„็น”ๅž‹ใŒใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„้ซ„่Šฝ่…ซใ€้€€ๅฝขๆˆๆ€ง้ซ„่Šฝ่…ซใ€ๅคง็ดฐ่ƒžๅž‹้ซ„่Šฝ่…ซใ€็ทš็ถญๅฝขๆˆๆ€ง๏ผ็ต็ฏ€ๆ€ง้ซ„่Šฝ่…ซใ€ๅบƒ็ฏ„ใชๅฐ็ต็ฏ€ๅฝขๆˆใ‚’ไผดใ†้ซ„่Šฝ่…ซใ€‚" + @ja
+ dcterms:identifierNANDO:2200090
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_076_01.pdf
+ rdfs:label + "Medulloblastoma" + @en
+ rdfs:label + "ใšใ„ใŒใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้ซ„่Šฝ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01667
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_076/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002794
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002797
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007959
+ skos:prefLabel + "้ซ„่Šฝ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200091 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber60
+ dcterms:description + "ใƒˆใƒซใ‚ณ้žไธŠ้ƒจใซ็™บ็”Ÿใ—ๅšข่ƒžๅฝขๆˆใ‚’ไผดใ†ไธŠ็šฎๆ€งใฎ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใƒฉใƒˆใ‚ฑๅšข่ƒž็”ฑๆฅใจใ•ใ‚Œใ€็ต„็น”ๅญฆ็š„ใซใ‚จใƒŠใƒกใƒซไธŠ็šฎ่…ซๅž‹ใจไนณ้ ญๅž‹ใซๅˆ†้กžใงใใ€ไนณ้ ญๅž‹ใฏๅฐๅ…ใซใฏๅฐ‘ใชใ„ใ€‚" + @ja
+ dcterms:identifierNANDO:2200091
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_077_01.pdf
+ rdfs:label + "Craniopharyngioma" + @en
+ rdfs:label + "ใšใŒใ„ใ„ใ‚“ใจใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้ ญ่“‹ๅ’ฝ้ ญ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_077/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018907
+ skos:prefLabel + "้ ญ่“‹ๅ’ฝ้ ญ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200092 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber54
+ dcterms:description + "ๆพๆžœไฝ“็ดฐ่ƒžใซ้กžไผผใ—ใŸ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€ๆพๆžœไฝ“็ดฐ่ƒžใƒญใ‚ผใƒƒใƒˆใ‚’ไผดใ†ใ‚‚ใฎใจๅคงๅฐใฎ็ฅž็ตŒ็ดฐ่ƒžใŒๆททๅœจใ™ใ‚‹ๅคšๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆพๆžœไฝ“ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๆœช็†Ÿใชๆ‚ชๆ€งใฎ่…ซ็˜ใฏๆพๆžœไฝ“่Šฝ่…ซใงใ€ๅฐๅž‹ใฎๆœชๅˆ†ๅŒ–ใช็ดฐ่ƒžใฎๅ……ๅฎŸๆ€งๅข—ๆฎ–ใ‹ใ‚‰ใชใ‚Šใ€ๅ‘จๅ›ฒใธใฎๆตธๆฝคใ€้ซ„ๆถฒๆ’ญ็จฎใ‚’ใใŸใ—ใ‚„ใ™ใใ€WHOใ‚ฐใƒฌใƒผใƒ‰IVใจๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚" + @ja
+ dcterms:identifierNANDO:2200092
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_078_01.pdf
+ rdfs:label + "Pineocytoma" + @en
+ rdfs:label + "ใ—ใ‚‡ใ†ใ‹ใŸใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆพๆžœไฝ“่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_078/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016723
+ skos:prefLabel + "ๆพๆžœไฝ“่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200093 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber67
+ dcterms:description + "่„ˆ็ตกๅขไธŠ็šฎใซ้กžไผผใ—ใŸ็ดฐ่ƒžใŒไนณ้ ญ็Šถๆง‹้€ ใ‚’ไฝœใ‚‹่„ณๅฎคๅ†…่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ˆ็ตกๅขไนณ้ ญ่…ซใฏ็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใงWHO ใ‚ฐใƒฌใƒผใƒ‰Iใงใ‚ใ‚‹ใ€‚็•ฐๅž‹่„ˆ็ตกๅขไนณ้ ญ่…ซใฏๆ ธๅˆ†่ฃ‚ๆดปๆ€งใŒไบข้€ฒใ—ใŸ่„ˆ็ตกๅข่…ซ็˜ใงใ‚ใ‚ŠWHOใ‚ฐใƒฌใƒผใƒ‰IIใงใ€่„ˆ็ตกๅข็™Œใฏๆ˜Žใ‚‰ใ‹ใช้€€ๅฝขๆˆๆ‰€่ฆ‹ใ‚’็คบใ™่„ˆ็ตกๅข่…ซ็˜ใงWHOใ‚ฐใƒฌใƒผใƒ‰IIIใจๆ‚ชๆ€งๅบฆใŒๅข—ใ™ใ€‚" + @ja
+ dcterms:identifierNANDO:2200093
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_079_01.pdf
+ rdfs:label + "Choroid plexus papilloma" + @en
+ rdfs:label + "ใฟใ‚ƒใใ‚‰ใใใ†ใซใ‚…ใ†ใจใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่„ˆ็ตกๅขไนณ้ ญ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01007
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_079/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009837
+ skos:prefLabel + "่„ˆ็ตกๅขไนณ้ ญ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200094 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber59
+ dcterms:description + "้ซ„่†œ่ขซ็ดฐ่ƒž๏ผˆใใ‚‚่†œ็ดฐ่ƒž๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใช่…ซ็˜ใงใ€็กฌ่†œใฎๅ†…้ขใซๅ›บ็€ใ—้ซ„ๅค–ๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ€‚ๆธฆๅทปใๆง‹้€ ใ‚„็Ÿณ็ฐๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ๅคšๆง˜ใช็ต„็น”ไบœๅž‹ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใŒใ€็•ฐๅฝขๆ€งใ‚’็คบใ™ไพ‹๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใ€III๏ผ‰ใงใฏๅ†็™บใ—ใ‚„ใ™ใ„ใ€‚" + @ja
+ dcterms:identifierNANDO:2200094
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_080_01.pdf
+ rdfs:label + "Meningioma" + @en
+ rdfs:label + "ใšใ„ใพใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้ซ„่†œ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01556
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_080/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003057
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016642
+ skos:prefLabel + "้ซ„่†œ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200095 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber50
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎๅฎŸ่ณช็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่‰ฏๆ€ง่…ซ็˜๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ€็”ฃ็”Ÿใƒ›ใƒซใƒขใƒณใฎ็จฎ้กžใซใ‚ˆใฃใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็›ดๅพ„10mmใ‚ˆใ‚Šๅคงใใ„ใ‚‚ใฎใ‚’ๅทจๅคง่…ซ็˜ใจใ—ใ€10mmไปฅไธ‹ใงใƒˆใƒซใ‚ณ้žๅ†…ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‚’ๅพฎๅฐ่…บ่…ซใจใ™ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200095
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_081_01.pdf
+ rdfs:label + "Pituitary adenoma" + @en
+ rdfs:label + "ใ‹ใ™ใ„ใŸใ„ใ›ใ‚“ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“่…บ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01102
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_081/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006373
+ skos:prefLabel + "ไธ‹ๅž‚ไฝ“่…บ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200096 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber56
+ dcterms:description + "่…ซ็˜ๆ€งๆ ผใ‚’ๆŒใคๅคงๅž‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200096
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_082_01.pdf
+ rdfs:label + "Ganglioglioma" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใ›ใคใ“ใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ็ฏ€่† ่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_082/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016733
+ skos:prefLabel + "็ฅž็ตŒ็ฏ€่† ่…ซ" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/NANDO_2200097 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber57
+ dcterms:description + "ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ˆใๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใŸๅคงๅž‹ใฎ่…ซ็˜ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚Šใ€ๅพใ€…ใซ็™บ่‚ฒใ™ใ‚‹่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200097
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_083_01.pdf
+ rdfs:label + "Gangliocytoma" + @en
+ rdfs:label + "ใ—ใ‚“ใ‘ใ„ใ›ใคใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ็ฏ€่…ซ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_083/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#1100014http://nanbyodata.jp/ontology/NANDO_2100007
+ skos:altLabel + "็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008310http://purl.obolibrary.org/obo/MONDO_0016730
skos:prefLabel - "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" + "็ฅž็ตŒ็ฏ€่…ซ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2000001 +
http://nanbyodata.jp/ontology/NANDO_2200098 (rdf:type owl:Class @@ -78069,41 +121447,74 @@

hasNotificationNumber62
+ dcterms:description + "่ƒŽๅ…ๆœŸใฎ่„Š็ดขใซ็”ฑๆฅใ™ใ‚‹่…ซ็˜ใงใ€็ฒ˜ๆถฒ็ŠถๅŸบ่ณชใŒ่ฑŠๅฏŒใง็ฉบ่ƒž็Šถ็ดฐ่ƒžใŒ็ญ–็Šถ้…ๅˆ—ใ‚’ๅ‘ˆใ—ใ€่…ซ็˜ๅ‘จๅ›ฒใฎๅฑ€ๆ‰€ใ‚’็ ดๅฃŠๆ€งใซ็™บ่‚ฒใ™ใ‚‹็‰นๅพดใ‚’ๆŒใคใ€‚" + @ja
dcterms:identifier2000001NANDO:2200098
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_084_01.pdf
rdfs:label - "specific chronic pediatric disease" + "Chordoma" @en
rdfs:label - "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…" + "ใ›ใใ•ใใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่„Š็ดข่…ซ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_084/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#0000001http://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008978
skos:prefLabel - "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…" + "่„Š็ดข่…ซ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100001 +
http://nanbyodata.jp/ontology/NANDO_2200099 (rdf:type owl:Class @@ -78111,41 +121522,88 @@

hasNotificationNumber66
+ dcterms:description + "ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใซ็™บ็”Ÿใ—ใ€ๆœช็†Ÿใช็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹็ต„็น”ๅญฆ็š„ใซๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใ้žๅธธใซๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚" + @ja
dcterms:identifier2100001NANDO:2200099
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_085_01.pdf
rdfs:label - "Malignant neoplasms" + "Primitive neuroectodermal tumour of the central nervous system" @en
rdfs:label - "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ" + "ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฎใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆไธญๆžขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100006
+ skos:altLabel + "Central nervous system primitive neuroectodermal tumor" + @en
+ skos:altLabel + "ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000640
skos:prefLabel - "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ" + "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆไธญๆžขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + - + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100002 +
http://nanbyodata.jp/ontology/NANDO_2200100 (rdf:type owl:Class @@ -78155,39 +121613,144 @@

dcterms:identifier2100002NANDO:2200100
rdfs:label - "leukemia" + "Primitive neuroectodermal tumour of the central nervous system" @en
rdfs:label - "็™ฝ่ก€็—…" + "obsolete ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + @ja
+ rdfs:label + "ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ’ใ‚“ใ—ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:subClassofhttp://nanbyodata.jp/ontology/NANDO_0000002
+ owl:deprecated + "true" + + xsd:boolean +
+ skos:prefLabel + "obsolete ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200101 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber49
+ dcterms:description + "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(AT/RT)ใฏไธญๆžข็ฅž็ตŒ็ณปใซ็™บ็”Ÿใ™ใ‚‹ๆฅตใ‚ใฆๆ‚ชๆ€งๅบฆใฎ้ซ˜ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚1987ๅนดใซไธญๆžข็ฅž็ตŒ็ณปใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ—ใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ€2000ๅนดใ‹ใ‚‰ๆญฃๅผใซWHOๅˆ†้กžใซๅ–ใ‚Šๅ…ฅใ‚Œใ‚‰ใ‚ŒใŸๆ–ฐใ—ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚WHOๅˆ†้กžใงใฏGrade IVใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅพ“ๆฅใฏ้ซ„่Šฝ่…ซใ‚„ไธŠ่กฃ่…ซใ€่„ˆ็ตกๅข็™Œใชใฉใจใ—ใฆ่จบๆ–ญใƒปๆฒป็™‚ใ•ใ‚Œใฆใ„ใŸใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…็–ซ็ต„็น”ๆŸ“่‰ฒใง่…ซ็˜็ดฐ่ƒžใŒINI-1้™ฐๆ€งใจใชใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200101
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_086_01.pdf
+ rdfs:label + "Atypical teratoid, rhabdoid tumour" + @en
+ rdfs:label + "ใ„ใ‘ใ„ใใ‘ใ„ใ—ใ‚…ใ‚ˆใ†๏ผใ‚‰ใถใฉใ„ใฉใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100001http://nanbyodata.jp/ontology/NANDO_2100007
+ skos:altLabel + "AT/RT" + @en
+ skos:altLabel + "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020560
skos:prefLabel - "็™ฝ่ก€็—…" + "็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100003 +
http://nanbyodata.jp/ontology/NANDO_2200102 (rdf:type owl:Class @@ -78195,46 +121758,81 @@

hasNotificationNumber48
+ dcterms:description + "ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜ใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹ๅ†…ใ‚„่„ŠๆคŽ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100003NANDO:2200102
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_087_01.pdf
rdfs:label - "Myelodysplastic syndrome" + "Malignant neurinoma" @en
rdfs:label - "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + "ใ‚ใใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01481https://www.shouman.jp/disease/details/01_06_087/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100001http://nanbyodata.jp/ontology/NANDO_2100007
+ skos:altLabel + "ๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017827
skos:prefLabel - "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + "ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100004 +
http://nanbyodata.jp/ontology/NANDO_2200103 (rdf:type owl:Class @@ -78242,41 +121840,74 @@

hasNotificationNumber55
+ dcterms:description + "ๅˆ†ๅŒ–ใ—ใŸใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ—ใฆใฏ้ ญ่“‹ๅ†…ใ‚„่„ŠๆŸฑ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ๆœซๆขข็ฅž็ตŒใซ้€ฃ็ถšใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใง่ขซ่†œใซ่ฆ†ใ‚ใ‚ŒใŸ่…ซ็˜คใ‚’ๅฝขๆˆใ—ใ€ๆ ธใฎๆฃš็Šถ้…ๅˆ—ใ‚„็ดฐ่ƒžใฎ็ฒ—ๅฏ†้…ๅˆ—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100004NANDO:2200103
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_088_01.pdf
rdfs:label - "Lymphoma" + "Neurinoma" @en
rdfs:label - "ใƒชใƒณใƒ‘่…ซ" + "ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ้ž˜่…ซ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_088/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100001http://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002546
skos:prefLabel - "ใƒชใƒณใƒ‘่…ซ" + "็ฅž็ตŒ้ž˜่…ซ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100005 +
http://nanbyodata.jp/ontology/NANDO_2200104 (rdf:type owl:Class @@ -78284,41 +121915,74 @@

hasNotificationNumber51
+ dcterms:description + "ๅฅ‡ๅฝข่…ซใฏใ€้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜๏ผˆgerm cell tumor๏ผ‰ใฎ๏ผ‘็จฎใงใ‚ใ‚Šใ€2007ๅนดใฎWHO็—…็†ๅˆ†้กžใงใฏใ€ใ•ใ‚‰ใซโ‘  ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ๏ผˆmature teratoma๏ผ‰โ‘ก ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ(immature teratoma)โ‘ข ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ๏ผˆteratoma with malignant transformation๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‰่ƒš่‘‰ใฎๆˆๅˆ†ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใžใ‚Œใฎๆˆๅˆ†ใŒใ™ในใฆๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๅ…จไฝ“ใพใŸใฏไธ€้ƒจใŒๆœช็†Ÿใชๅฝขๆ…‹ใ‚’็คบใ™ใ‚‚ใฎใฏๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๆˆ็†Ÿๅฅ‡ๅฝข่…ซใฎไธ€้ƒจใŒๆ‚ชๆ€งใฎ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใฏๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่…ซ็˜ใฏใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅฅ‡ๅฝข่…ซไปฅๅค–ใฎไป–ใฎ่ƒš็ดฐ่ƒž่…ซ็˜ใจๆททๅœจใ—ใ€ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่„ณใƒป่„Š้ซ„ไปฅๅค–ใฎๅฅ‡ๅฝข่…ซใจๅŒๆง˜ใฎ็—…็†็ต„็น”ๆ‰€่ฆ‹ใ‚’ใจใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใชใฉใฎ็›ธ้•ใ‹ใ‚‰ใ€่จบๆ–ญใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚Šใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ไนณๅนผๅ…ใงใฎ็™บ็—‡ใฏใ€ๅคšใใฏๅ…ˆๅคฉๆ€ง่„ณ่…ซ็˜ใงใ‚ใ‚Šๆˆ็†Ÿๅฅ‡ๅฝข่…ซใŒๅคšใ„ใ€‚ๅนด้•ทๅ…ใ€ๆˆไบบใงใฏใปใจใ‚“ใฉใŒๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใฎไธ€้ƒจใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100005NANDO:2200104
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf
rdfs:label - "Histiocytosis" + "Teratoma of the central nervous system" @en
rdfs:label - "็ต„็น”็ƒ็—‡" + "ใใ‘ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๅฅ‡ๅฝข่…ซ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100001http://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002718
skos:prefLabel - "็ต„็น”็ƒ็—‡" + "ๅฅ‡ๅฝข่…ซ" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100006 +
http://nanbyodata.jp/ontology/NANDO_2200105 (rdf:type owl:Class @@ -78326,41 +121990,67 @@

hasNotificationNumber51
dcterms:identifier2100006NANDO:2200105
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf
rdfs:label - "Solid tumor (excluding solid tumour of the central nervous system)" + "mature teratoma" @en
rdfs:label - "ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰" + "ใ›ใ„ใ˜ใ‚…ใใใ‘ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100001http://nanbyodata.jp/ontology/NANDO_2200104
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003517
skos:prefLabel - "ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰" + "ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100007 +
http://nanbyodata.jp/ontology/NANDO_2200106 (rdf:type owl:Class @@ -78368,41 +122058,67 @@

hasNotificationNumber51
dcterms:identifier2100007NANDO:2200106
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf
rdfs:label - "Central nervous system tumors" + "immature teratoma" @en
rdfs:label - "ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" + "ใฟใ›ใ„ใ˜ใ‚…ใใใ‘ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100001http://nanbyodata.jp/ontology/NANDO_2200104
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024746
skos:prefLabel - "ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" + "ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100008 +
http://nanbyodata.jp/ontology/NANDO_2200107 (rdf:type owl:Class @@ -78410,41 +122126,67 @@

hasNotificationNumber51
dcterms:identifier2100008NANDO:2200107
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf
rdfs:label - "Chronic kidney disease" + "teratoma with malignant transformation" @en
rdfs:label - "ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ" + "ใ‚ใใ›ใ„ใฆใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใใ‘ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2200104
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006444
skos:prefLabel - "ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ" + "ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100009 +
http://nanbyodata.jp/ontology/NANDO_2200108 (rdf:type owl:Class @@ -78452,46 +122194,74 @@

hasNotificationNumber61
+ dcterms:description + "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜(germ cell tumors, GCT)ใฏใ€ๆพๆžœไฝ“้ƒจใ‚„้žไธŠ้ƒจใซ็™บ็—‡ใ™ใ‚‹ๆง˜ใ€…ใช่…ซ็˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ๅคšๆง˜ใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ใฏ2007ๅนดใฎWHOใฎ็—…็†ๅญฆ็š„ๅˆ†้กžใงใฏๆฌกใฎ6ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚โ‘  ใ‚ธใƒฃใƒผใƒŸใƒŽใƒผใƒž๏ผˆ่ƒš่…ซ๏ผ‰(germinoma)โ‘ก ่ƒŽๅ…ๆ€ง็™Œ(embryonal carcinoma)โ‘ข ๅต้ป„ๅšข่…ซ็˜(yolk sac tumor) โ‘ฃ ็ตจๆฏ›็™Œ(choriocarcinoma)โ‘ค ๅฅ‡ๅฝข่…ซ(teratoma)๏ผˆๆˆ็†Ÿๅฅ‡ๅฝข่…ซmature teratoma/ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซimmature teratoma/ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซteratoma with malignant transforamtion๏ผ‰โ‘ฅ ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜(mixed germ cell tumors)ๆททๅˆๆ€ง่…ซ็˜ใฏใ€่…ซ็˜ๅ†…ใซไธŠ่จ˜ใฎ โ‘  ใ€œ โ‘ค ใฎ่…ซ็˜ใŒ2็จฎ้กžไปฅไธŠๆททๅœจใ—ใฆ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅค–ใซใ‚‚็—…็†็ต„็น”ใฎ้กžไผผใ—ใŸ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใฎ้•ใ„ใ‹ใ‚‰้ ญ่“‹ๅค–ใฎ่…ซ็˜ใจใฏ็•ฐใชใฃใŸ่จบๆ–ญใƒปๆฒป็™‚ๆ–นๆณ•ใŒใจใ‚‰ใ‚Œใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100009NANDO:2200108
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_090_01.pdf
rdfs:label - "Nephrotic syndrome" + "Intracranial germ cell tumour" @en
rdfs:label - "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "ใšใŒใ„ใชใ„ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01657https://www.shouman.jp/disease/details/01_06_090/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100007
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004218
skos:prefLabel - "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100010 +
http://nanbyodata.jp/ontology/NANDO_2200109 (rdf:type owl:Class @@ -78499,41 +122269,156 @@

hasNotificationNumber69
+ dcterms:description + "้ ญ่“‹ๅ†…ใ‚ใ‚‹ใ„ใฏ่„ŠๆŸฑ็ฎกๅ†…ใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ๆ€ง็—…ๅค‰ใฏใ€ๅŽŸ็™บๆ€งใ€่ปข็งปๆ€งใซ้–ขใ‚ใ‚‰ใšใ€ใพใŸๆ‚ชๆ€งๅบฆใซ้–ขใ‚ใ‚‰ใšไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100010NANDO:2200109
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_091_01.pdf
rdfs:label - "Chronic glomerulonephritis" + "70ใ‹ใ‚‰90ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" + @ja
+ rdfs:label + "Other tumours of the central nervous system" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_091/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100007
+ skos:prefLabel + "70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_2200110 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber23
+ dcterms:description + "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(congenital nephrotic syndrome๏ผšCNS)ใจใใ‚Œไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(infantile NS๏ผšINS)ใจใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽCNSใ‚’ไปฃ่กจใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (congenital nephrotic syndrome of the Finnish type: CNF)ใงใ‚ใ‚‹(1, 2)ใ€‚" + @ja
+ dcterms:identifierNANDO:2200110
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_001_01.pdf
+ rdfs:label + "Congenital nephrotic syndrome of the Finnish type" @en
rdfs:label - "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใตใƒใ‚“ใ‚‰ใ‚“ใฉใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2718
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100009
+ skos:altLabel + "CNF" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009732
skos:prefLabel - "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100011 +
http://nanbyodata.jp/ontology/NANDO_2200111 (rdf:type owl:Class @@ -78541,41 +122426,76 @@

hasNotificationNumber22
+ dcterms:description + "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎใ†ใก๏ผŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค๏ผˆINS๏ผ‰ใซๅˆ†้กžใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใŒ็™บ็—‡ใ—๏ผŒ็™บ็—‡ๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซๆœซๆœŸ่…Žไธๅ…จใซใชใ‚‹๏ผŽใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ใฎๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ็•ฐใชใ‚Š๏ผŒ็พŠๆฐดไธญใฎฮฑใƒ•ใ‚งใƒˆใƒ—ใƒญใƒ†ใ‚คใƒณใ‚„่ƒŽ็›ค้‡้‡ใฏ้€šๅธธ๏ผŒๆญฃๅธธใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100011NANDO:2200111
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_002_01.pdf
rdfs:label - "Chronic tubulointerstitial nephritis (excluding urinary tract malformation)" + "Diffuse mesangial sclerosis" @en
rdfs:label - "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + "ใณใพใ‚“ใ›ใ„ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100009
+ skos:altLabel + "DMS" + @en
skos:prefLabel - "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + "ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100012 +
http://nanbyodata.jp/ontology/NANDO_2200112 (rdf:type owl:Class @@ -78583,41 +122503,86 @@

hasNotificationNumber21
+ dcterms:description + "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡ๅ€™ๅˆ†้กžใซใฆใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซๅ…‰ๅญฆ้ก•ๅพฎ้กไธŠใฏใปใจใ‚“ใฉๅค‰ๅŒ–ใ‚’่ชใ‚ใชใ„ (minor glomerular abnormalities) ็–พๆ‚ฃใ‚’๏ผŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (minimal change nephrotic syndrome: MCNS) ใจใ—ใฆใ„ใ‚‹ใ€‚๏ผ‘ๅนด้–“ใซๅฐๅ…10ไธ‡ไบบใซ2๏ฝž5ไบบใŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็™บ็—‡ใ—๏ผŒๅฐๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ็ด„90%ใฏๅŽŸๅ› ไธๆ˜Žใช็‰น็™บๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒใ•ใ‚‰ใซใใฎ็ด„90๏ผ…ใŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100012NANDO:2200112
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_003_01.pdf
rdfs:label - "Chronic pyelonephritis" + "Minimal change nephrotic syndrome" @en
rdfs:label - "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" + "ใณใ—ใ‚‡ใ†ใธใ‚“ใ‹ใŒใŸใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200720
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100009
+ skos:altLabel + "MCNS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006835
skos:prefLabel - "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" + "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100013 +
http://nanbyodata.jp/ontology/NANDO_2200113 (rdf:type owl:Class @@ -78625,41 +122590,86 @@

hasNotificationNumber20
+ dcterms:description + "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–ใฏใ€ๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใจใ„ใ†็—…็†ๅฝขๆ…‹ๅƒใ‚’่กจ็พใ™ใ‚‹็”จ่ชžใงใ‚ใ‚Šใ€่…Ž็šฎ่ณชๆทฑๅฑค(็šฎ้ซ„ๅขƒ็•Œ)ใฎไธ€้ƒจใฎ็ณธ็ƒไฝ“(ๅทฃ็Šถ)ใซๅˆ†็ฏ€็Šถใฎ็กฌๅŒ–ใ‚’่ชใ‚ใ‚‹ใ“ใจใง็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็ณธ็ƒไฝ“ๆ•ฐใฎ50๏ผ…ไปฅไธ‹ใซใ€ๅˆ†็ฏ€ๆ€ง(50๏ผ…/็ณธ็ƒไฝ“ไปฅไธ‹)ใฎๆฏ›็ดฐ่ก€็ฎก่™š่„ฑ(ใจๅŸบ่ณชใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ“ใจใฎ2ใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็ณธ็ƒไฝ“็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎไธญใซใ€่‡จๅบŠ็š„ใซ้ซ˜ๅบฆใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ‚’ไผดใ„ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงใ€ๅพใ€…ใซ่…ŽๆฉŸ่ƒฝ้šœๅฎณใŒ้€ฒๅฑ•ใ™ใ‚‹็–พๆ‚ฃ็พคใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹FSGSใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚็พๅœจใงใฏใ€FSGSใฎไธญใซใฏ็ต„็น”ๅญฆ็š„ใซๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅซใพใ‚Œใ€ใพใŸใ€ๅŽŸๅ› ใ‚„็—…ๆ…‹ใŒๆ˜Žใ‚‰ใ‹ใชไบŒๆฌกๆ€งใฎFSGSใ‚‚ๅŠ ใ‚ใ‚Šใ€่ค‡้›‘ใช็–พๆ‚ฃ็พคใซใ‚ˆใ‚Šๆง‹็ฏ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2004ๅนดใซใ‚ณใƒญใƒณใƒ“ใ‚ขๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€FSGSใฏ่‡จๅบŠ็š„ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ€้€šๅธธใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใ€ๅ…‰้ก•็š„ใซใฏ็ณธ็ƒไฝ“ใซๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็กฌๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ€้›ป้ก•็š„ใซๅบƒ็ฏ„ใช็ณธ็ƒไฝ“ไธŠ็šฎ็ดฐ่ƒžใฎ่ถณ็ช่ตทใฎๆถˆๅคฑ(effacement)ใ‚’ๅ‘ˆใ™ใ‚‹่‡จๅบŠ็—…็†ๅญฆ็š„็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚" + @ja
dcterms:identifier2100013NANDO:2200113
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_004_01.pdf
rdfs:label - "Amyloid nephropathy" + "Focal segmental glomerulosclerosis" @en
rdfs:label - "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" + "ใใ†ใ˜ใ‚‡ใ†ใถใ‚“ใ›ใคใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200722
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100009
+ skos:altLabel + "FSGS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005363
skos:prefLabel - "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" + "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100014 +
http://nanbyodata.jp/ontology/NANDO_2200114 (rdf:type owl:Class @@ -78667,46 +122677,79 @@

hasNotificationNumber24
+ dcterms:description + "่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็ณธ็ƒไฝ“ๅŸบๅบ•่†œไธŠ็šฎไธ‹ใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใจใ“ใ‚Œใซๅผ•ใ็ถšใ„ใฆ่ตทใ“ใ‚‹็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎๅๅฟœๆ€งๅค‰ๅŒ–๏ผˆใณใพใ‚“ๆ€ง่‚ฅๅŽš๏ผŒใ‚นใƒ‘ใ‚คใ‚ฏๅฝขๆˆ๏ผŒ็‚นๅˆปๅƒ๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒ่ฃœไฝ“ๆดปๆ€งๅŒ–ใชใฉใฎ็พ่ฑกใฏ็‚Ž็—‡ใฎไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰๏ผŒWHOๅˆ†้กž1ใงใฏ่†œๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranous glomerulonephritis)ใจใ—ใฆใ„ใ‚‹2ใ€‚ๆˆไบบใงใฏ๏ผŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ20๏ฝž30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใŒ๏ผŒๅฐๅ…ใงใฏ็™บ็—‡้ ปๅบฆใฏๅฐ‘ใชใ„ใ€‚่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็‰น็™บๆ€งใจ่† ๅŽŸ็—…๏ผŒๆ„ŸๆŸ“็—‡๏ผŒ่–ฌๅ‰ค๏ผŒๆ‚ชๆ€ง่…ซ็˜ใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚" + @ja
dcterms:identifier2100014NANDO:2200114
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_005_01.pdf
rdfs:label - "Familial juvenile hyperuricaemic nephropathy" + "Membranous nephropathy" @en
rdfs:label - "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" + "ใพใใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่†œๆ€ง่…Ž็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02011http://nanbyodata.jp/ontology/NANDO_1200721
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100009
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005376
skos:prefLabel - "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" + "่†œๆ€ง่…Ž็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100015 +
http://nanbyodata.jp/ontology/NANDO_2200115 (rdf:type owl:Class @@ -78714,46 +122757,142 @@

hasNotificationNumber25
+ dcterms:description + "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒ้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉ็š„่ฆๅ› ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซ๏ผŒๅพŒๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏๅŽŸ็™บๆ€ง็ณธ็ƒไฝ“็–พๆ‚ฃใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŸบ็คŽ็–พๆ‚ฃใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ—ใฆใ€€1.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚„ใ€2.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ใณใพใ‚“ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎไป–่กจ๏ผ‘ใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏใ€3.ใ€€ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ€4.ใ€€ๅทฃ็Šถๆ€งๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใ€5.ใ€€่†œๆ€ง่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใŒ๏ผŒใใฎไป–ใซ่กจ2ใซ็คบใ™็–พๆ‚ฃใŒๅŽŸๅ› ใจใ—ใฆๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅฐๅ…ใงใฏ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚ŽใพใŸ๏ผŒๆ„ŸๆŸ“็—‡ใซไผดใ†ๆ€ฅๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ๆˆไบบใงใฏ็ณ–ๅฐฟ็—…ๆ€ง่…Ž็—‡ใ‚„ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚่กจ1ใ€€ๅ…ˆๅคฉๆ€งใƒปไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅˆ†้กž่กจ2ใ€€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸ็–พๆ‚ฃ" + @ja
dcterms:identifier2100015NANDO:2200115
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label - "Nephronophthisis" + "1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + @ja
+ rdfs:label + "Other nephrotic syndromes" @en
rdfs:label - "ใƒใƒ•ใƒญใƒณ็™†" + "๏ผ‘ใ‹ใ‚‰๏ผ•ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100009
+ skos:prefLabel + "1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/NANDO_2200116 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber25
+ dcterms:identifierNANDO:2200116
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
+ rdfs:label + "Denys-Drash syndrome" + @en
+ rdfs:label + "Denys-Drash็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใงใซใ™ใฉใ‚‰ใฃใ—ใ‚…ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00537http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1652
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2200115
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008682
skos:prefLabel - "ใƒใƒ•ใƒญใƒณ็™†" + "Denys-Drash็—‡ๅ€™็พค" @ja
- - + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100016 +
http://nanbyodata.jp/ontology/NANDO_2200117 (rdf:type owl:Class @@ -78761,41 +122900,72 @@

hasNotificationNumber25
dcterms:identifier2100016NANDO:2200117
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label - "Renovascular hypertension" + "Pearson syndrome" @en
rdfs:label - "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" + "Pierson็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใดใ‚ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6460
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2200115
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012184
skos:prefLabel - "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" + "Pierson็—‡ๅ€™็พค" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100017 +
http://nanbyodata.jp/ontology/NANDO_2200118 (rdf:type owl:Class @@ -78803,41 +122973,67 @@

hasNotificationNumber25
dcterms:identifier2100017NANDO:2200118
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label - "Renal vein thrombosis" + "central nervous system malformation syndrome" @en
rdfs:label - "่…Ž้™่„ˆ่ก€ๆ “็—‡" + "ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใใ‘ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2200115
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020022
skos:prefLabel - "่…Ž้™่„ˆ่ก€ๆ “็—‡" + "ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค" @ja
- - + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100018 +
http://nanbyodata.jp/ontology/NANDO_2200119 (rdf:type owl:Class @@ -78845,41 +123041,98 @@

hasNotificationNumber25
dcterms:identifier2100018NANDO:2200119
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label - "Renal arteriovenous fistula" + "Herlitz junctional epidermolysis bullosa" @en
rdfs:label - "่…Žๅ‹•้™่„ˆ็˜ป" + "ใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201378
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2168
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2200115
+ skos:altLabel + "Herlitz JEB" + @en
+ skos:altLabel + "Herlitzๅž‹่กจ็šฎๆฐดๆณก็—‡" + @ja
+ skos:altLabel + "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009182
skos:prefLabel - "่…Žๅ‹•้™่„ˆ็˜ป" + "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100019 +
http://nanbyodata.jp/ontology/NANDO_2200120 (rdf:type owl:Class @@ -78887,46 +123140,72 @@

hasNotificationNumber25
dcterms:identifier2100019NANDO:2200120
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label - "Renal tubular acidosis" + "Galloway-Mowat syndrome" @en
rdfs:label - "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใŽใ‚ƒใ‚ใ†ใ‡ใ„ใƒปใ‚‚ใ‚ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02310http://nanbyodata.jp/ontology/NANDO_1200713
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2200115
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009627
skos:prefLabel - "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100020 +
http://nanbyodata.jp/ontology/NANDO_2200121 (rdf:type owl:Class @@ -78934,41 +123213,79 @@

hasNotificationNumber29
+ dcterms:description + "IgA่…Ž็—‡ใฏ๏ผŒๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใก๏ผŒไธปใซๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgAใŒๅ…็–ซ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใ€่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซๆฒˆ็€ใ—๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใƒปๆ‹กๅคงใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100020NANDO:2200121
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_007_01.pdf
rdfs:label - "Gitelman Bartter syndrome" + "IgA nephropathy" @en
rdfs:label - "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ๏ผˆGitelman๏ผ‰็—‡ๅ€™็พค" + "IgA่…Ž็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใ˜ใƒผใˆใƒผใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200366
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005342
skos:prefLabel - "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ๏ผˆGitelman๏ผ‰็—‡ๅ€™็พค" + "IgA่…Ž็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - - + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100021 +
http://nanbyodata.jp/ontology/NANDO_2200122 (rdf:type owl:Class @@ -78976,41 +123293,86 @@

hasNotificationNumber41
+ dcterms:description + "ใณใพใ‚“ๆ€งๅ…จ็ฏ€ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใ‚’ๅ‘ˆใ™ใ‚‹็—…ๅค‰ใงใ‚ใ‚‹ใ€‚MesPGNใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏๅคšๅฝฉใงใ‚ใ‚Š๏ผŒๅ…จ่บซๆ€ง็–พๆ‚ฃใซไผดใ†ใ‚‚ใฎใจไผดใ‚ใชใ„ใ‚‚ใฎ(ๅŽŸ็™บๆ€ง)ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰(1)ใ€‚MesPGNใฎใ†ใก๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ๆณ•ใซใฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgA๏ผŒ่ฃœไฝ“๏ผฃ3ใฎ้กž็ฒ’็Šถๆฒˆ็€ใŒไป–ใฎๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใ‚ˆใ‚Šใ‚‚ๅ„ชไฝใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒIgA่…Ž็—‡ใงใ‚ใ‚Š๏ผŒๅŽŸ็™บๆ€งใฎMesPGNใงใฏๆœ€ใ‚‚ๅคšใ„ใ€‚IgA่…Ž็—‡ไปฅๅค–ใฎใ‚‚ใฎใฏnon-IgA่…Ž็—‡ใจๅ‘ผใฐใ‚Œ๏ผŒIgM่…Ž็—‡ใ‚„C1q่…Ž็—‡๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ใŒ้™ฐๆ€งใฎใ‚‚ใฎใชใฉใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚่กจใ€€ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ(1)" + @ja
dcterms:identifier2100021NANDO:2200122
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_008_01.pdf
rdfs:label - "Bartter Gitelman syndrome" + "Mesangial proliferative glomerulonephritis" @en
rdfs:label - "ใƒใƒผใ‚ฟใƒผ๏ผˆBartter๏ผ‰็—‡ๅ€™็พค" + "ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008 + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1201029
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_008/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100010
+ skos:altLabel + "MesPGN" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003139
skos:prefLabel - "ใƒใƒผใ‚ฟใƒผ๏ผˆBartter๏ผ‰็—‡ๅ€™็พค" + "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#2100022 +
http://nanbyodata.jp/ontology/NANDO_2200123 (rdf:type owl:Class @@ -79018,83 +123380,91 @@

hasNotificationNumber38
+ dcterms:description + "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranoproliferative glomerulonephritis: MPGN)ใฏ๏ผŒ็—…็†็ต„็น”ๆ‰€่ฆ‹ไธŠ๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽšใซใ‚ˆใ‚Š่ก€็ฎก่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใฎไธ€ๆฌกๆ€งMPGNใจ๏ผŒๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚ŠMPGNใซ้กžไผผใ—ใŸ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบŒๆฌกๆ€งMPGNใŒใ‚ใ‚‹ใ€‚ใ€€็—…็†ๅญฆ็š„ใซ๏ผŒใณใพใ‚“ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ใฎไบŒ้‡ๅŒ–ใŠใ‚ˆใณ๏ผŒๅ†…็šฎ็ดฐ่ƒžไธ‹ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒๅ†…็šฎไธ‹่…”ใธใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎ้–“ๅ…ฅใชใฉใฎ็‰นๅพดใ‚’ๆœ‰ใ—๏ผŒ่‡จๅบŠ็š„ใซๆŒ็ถšๆ€งใฎไฝŽ่ฃœไฝ“่ก€็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚้›ป้ก•็š„ใซ๏ผŒ้ซ˜้›ปๅญๅฏ†ๅบฆๆฒˆ็€็‰ฉใฎๅญ˜ๅœจ้ƒจไฝใ‚ˆใ‚Š๏ผŒโ… ๅž‹(ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ)๏ผŒIIๅž‹(ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ)๏ผŒIIIๅž‹ (ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ+ไธŠ็šฎไธ‹ๆฒˆ็€็‰ฉ+ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒIIๅž‹MPGNใฏ๏ผŒDDD๏ผˆdensedepositdisease๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œ่ฃœไฝ“ๅˆถๅพกๅ› ๅญ๏ผŒ็‰นใซfactor HใฎๆฉŸ่ƒฝ็•ฐๅธธใŒ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆœ€่ฟ‘ๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒ่‡จๅบŠๅƒใ‚‚็•ฐใชใ‚‹็‚นใŒๅคšใ„ใ€‚WHOๅˆ†้กž(1995ๅนด)ใงใฏโ… ๅž‹๏ผŒIIIๅž‹ใจใฏ๏ผŒๅˆฅๅ€‹ใฎ็–พๆ‚ฃใจใจใ‚‰ใˆใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผŒIIๅž‹MPGNใฏไปฃ่ฌๆ€ง่…Ž็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100022NANDO:2200123
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_009_01.pdf
rdfs:label - "Nephro- and urolithiasis" + "Membranoproliferative glomerulonephritis" @en
rdfs:label - "่…Žๅฐฟ็ฎก็ต็Ÿณ" + "ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008 + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01726
- skos:prefLabel - "่…Žๅฐฟ็ฎก็ต็Ÿณ" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_009/
- - - - - + + - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2100023 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100023 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100010
- rdfs:label + skos:altLabel - "Chronic renal failure" + "MPGN" @en
- rdfs:label - "ๆ…ขๆ€ง่…Žไธๅ…จ" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002461
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018904
skos:prefLabel - "ๆ…ขๆ€ง่…Žไธๅ…จ" + "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100024 +
http://nanbyodata.jp/ontology/NANDO_2200124 (rdf:type owl:Class @@ -79102,41 +123472,86 @@

hasNotificationNumber34
+ dcterms:description + "่ก€็ฎก็‚Žใฎๅ›ฝ้š›ๅˆ†้กž(1)ใฎHenoch-Schรถnlein็ดซๆ–‘็—…ใฎๅฎš็พฉใฏ๏ผŒ่งฆ็Ÿฅๅฏ่ƒฝใช็ดซๆ–‘๏ผˆpalpable purpura๏ผ‰ใ‚’ๅฟ…้ ˆ้ …็›ฎใจใ—๏ผŒ็šฎ่†šใ‚‚ใ—ใใฏ่…Ž็ต„็น”ใธใฎIgAๆฒˆ็€่…น็—›๏ผŒ้–ข็ฏ€็‚Žใฎใ„ใšใ‚Œใ‹ใŒๅญ˜ๅœจใ™ใ‚‹็—…ๆ…‹ใจใ—ใฆใ„ใ‚‹ใ€‚ใ€€1837ๅนดใซSchรถnleinใŒ็ดซๆ–‘ใจ้–ข็ฏ€็—›ใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒ1874ๅนดใซHenochใŒๆถˆๅŒ–ๅ™จ็—‡็Šถใจ่…Ž้šœๅฎณใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒHenoch-Schรถnlein็ดซๆ–‘็—…(HSP)ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ๆ—ฅๆœฌใงๆฑŽ็”จใ•ใ‚Œใ‚‹ใ‚ขใƒฌใƒซใ‚ฎใƒผ็ดซๆ–‘็—…ใฏ๏ผŒOslerใŒใ“ใฎ็–พๆ‚ฃใŒใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใจไปฎ่ชฌใ‚’็ซ‹ใฆ๏ผŒๆๅ”ฑใ—ใŸใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ฏใƒˆใ‚คใƒ‰็ดซๆ–‘็—…๏ผˆanaphylactoid purpura๏ผ‰ใจใ„ใ†็”จ่ชžใฎ่จณใงใ‚ใ‚‹ใŒ๏ผŒ็–พๆ‚ฃใฎๆœฌไฝ“ใฏใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใงใชใๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒใ“ใฎ็”จ่ชžใฏ็”จใ„ใ‚‰ใ‚Œใชใใชใฃใฆใใฆใ„ใ‚‹ใ€‚็พๅœจใงใฏHenoch-Schรถnlein็ดซๆ–‘็—… (HSP)ใจใฎๅ‘ผใณๅใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ€‚ใ€€HSPใฏ๏ผŒๅฐๅ…ใฎ่ก€็ฎก็‚Žใจใ—ใฆใฏๅทๅดŽ็—…ใซๆฌกใ„ใงๅคšใ๏ผŒHSPใซๅˆไฝตใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Ž๏ผŒHenoch-Schรถnlein ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž (Henoch-Schรถnlein purpura nephritis :HSPN) ใฏๅฐๅ…ใฎไบŒๆฌกๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใชใ‹ใงๆœ€ใ‚‚ๅคšใ„ใ€‚ใ€€HSPNใฏ๏ผŒIgA่…Ž็—‡ใจๅŒๆง˜ใซ่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgAๅ„ชไฝใฎๆฒˆ็€ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚IgA่…Ž็—‡ใจ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใฎ้–“ใฎๅ”ฏไธ€ใฎ้•ใ„ใฏ๏ผŒ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใงใฏ็šฎ่†šใซ็‚น็Šถๅ‡บ่ก€ๆ–‘ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใงใ‚ใ‚Š๏ผŒ็ณธ็ƒไฝ“็—…ๅค‰ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ไธก็–พๆ‚ฃใจใ‚‚ใซ็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒHSPใฎ็šฎ่†š็—…ๅค‰ใฏๅพŒๆฏ›็ดฐ่ก€็ฎก็ดฐ้™่„ˆใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚Š๏ผŒ็—…ๅค‰้ƒจไฝใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100024NANDO:2200124
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_010_01.pdf
rdfs:label - "Renal malformation" + "Henoch-Schonlein purpura nephritis" @en
rdfs:label - "่…Žๅฅ‡ๅฝข" + "ใ—ใฏใ‚“ใณใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200741
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:altLabel + "HSPN" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006785
skos:prefLabel - "่…Žๅฅ‡ๅฝข" + "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + - + - - -
http://nanbyodata.jp/ontology/nando#2100025 +
http://nanbyodata.jp/ontology/NANDO_2200125 (rdf:type owl:Class @@ -79144,83 +123559,105 @@

hasNotificationNumber33
+ dcterms:description + "็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(glomerular basement membrane:GBM๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใงใ‚ใ‚‹ๆŠ—GBMๆŠ—ไฝ“ใŒๅŽŸๅ› ใจใชใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚„ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis: RPGN)ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ1919ๅนดใซGoodpastureใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ“ใจใซใกใชใฟ๏ผŒGoodpastureโ€™s syndromeใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๆŠ—GBMๆŠ—ไฝ“ใซใ‚ˆใ‚Š่‚บๅ‡บ่ก€ใจRPGNใฎไธก่€…ใŒ็”Ÿใ˜ใŸๅ ดๅˆใซGoodpasture็—‡ๅ€™็พคใจๅ‘ผใถใ“ใจใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚’ไผดใ‚ใšใซRPGNใฎใฟใŒ็”Ÿใ˜ใŸใจใใฏ๏ผŒๆŠ—GBMๆŠ—ไฝ“ๅž‹่…Ž็‚Žใจๅ‘ผใถใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2100025NANDO:2200125
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_011_01.pdf
rdfs:label - "Urinary tract malformation" + "Goodpasture syndrome" @en
rdfs:label - "ๅฐฟ่ทฏๅฅ‡ๅฝข" + "ใ“ใ†ใ—ใใ‚…ใ†ใŸใ„ใใฆใ„ใพใใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200718
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2292
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100010
- skos:prefLabel + skos:altLabel - "ๅฐฟ่ทฏๅฅ‡ๅฝข" - @ja
- - - - - - + "Anti-GBM Nephritis" + @en - + - + - - + +
http://nanbyodata.jp/ontology/nando#2100026 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100026
- rdfs:label + skos:altLabel - "Atrophic kidney (excluding urinary tract malformation)" + "Anti-glomerular basement membrane disease" @en
- rdfs:label + skos:altLabel - "่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + "ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009303
skos:prefLabel - "่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100027 +
http://nanbyodata.jp/ontology/NANDO_2200126 (rdf:type owl:Class @@ -79228,41 +123665,74 @@

hasNotificationNumber39
+ dcterms:description + "Alport็—‡ๅ€™็พค(AS)ใฏ1927ๅนดใซAlportใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้€ฒ่กŒๆ€งใฎ่…Ž็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใง๏ผŒ่ดๅŠ›็•ฐๅธธใƒป็œผ็ƒ็•ฐๅธธใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹(1)ใ€‚ใใฎๅŽŸๅ› ้บไผๅญใฏ๏ผŒCOL4A3๏ผŒCOL4A4๏ผŒCOL4A5้บไผๅญใงใ‚ใ‚‹ใ€‚1990ๅนดใซๅˆใ‚ใฆCOL4A5้บไผๅญๅค‰็•ฐใŒ๏ผธๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๅž‹(X-linked Alport syndrome: XLAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œ(2)๏ผŒๆฌกใ„ใง1994ๅนดใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญๅค‰็•ฐใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅž‹(autosomal recessive Alport syndrome: ARAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(3)ใ€‚ASๅ…จไฝ“ใฎไธญใง๏ผŒXLASใŒ็ด„80๏ผ…๏ผŒARASใŒ็ด„15๏ผ…ใ‚’ๅ ใ‚ใ‚‹๏ผŽๆฎ‹ใ‚Šใฎ5๏ผ…ใฎไธญใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญใฎ็•ฐๅธธใ‹ใ‚‰ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅž‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹(4)ใ€‚ASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(GBM)ใฎ่ฒ่–„ๅŒ–ใƒปๆ–ญ่ฃ‚ใ‚’ไผดใฃใฆ้€ฒ่กŒใ—๏ผŒๆ•ฐๅนดใ‹ใ‚‰ๅๆ•ฐๅนดใ‚’็ตŒใฆๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹(5)ใ€‚ๅˆๆœŸ็—‡็Šถใฏ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใงใ‚ใ‚‹ใ“ใจใŒๅคšใ๏ผŒ็‰นใซXLASใฎ็”ทๆ€งใซใŠใ„ใฆๆˆไบบใซใชใฃใฆใ‹ใ‚‰ใปใผไพ‹ๅค–ใชใ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚XLASใฎใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚‹ๅฅณๆ€งใฎASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใฎใฟใฎ็—‡ไพ‹ใ‹ใ‚‰ๆ—ฉๆœŸใซๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹็—‡ไพ‹ใพใงๅคšๆง˜ใงใ‚ใ‚Š๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใฎไธๆดปๅŒ–็พ่ฑกใซใ‚ˆใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹(5)ใ€‚" + @ja
dcterms:identifier2100027NANDO:2200126
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_012_01.pdf
rdfs:label - "Fanconi syndrome" + "Alport syndrome" @en
rdfs:label - "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พค" + "ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ‚ใ‚‹ใฝใƒผใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018965
skos:prefLabel - "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พค" + "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100028 +
http://nanbyodata.jp/ontology/NANDO_2200127 (rdf:type owl:Class @@ -79270,41 +123740,91 @@

hasNotificationNumber30
+ dcterms:description + "Epstein็—‡ๅ€™็พคใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ่…Ž็‚Ž๏ผŒ่ปฝๅบฆใฎ้›ฃ่ด๏ผŒๅทจๅคง่ก€ๅฐๆฟใฎๅ‡บ็พใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธ‰ๅพดใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒAlport็—‡ๅ€™็พคใจใฎ้กžไผผ็‚นใ‹ใ‚‰๏ผŒ้บไผๆ€ง่…Ž็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ ๅŒๆง˜ใซไธ‰ๅพดๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹Fechtner็—‡ๅ€™็พคใงใฏ็ฉŽ็ฒ’็ƒๅ†…ใซDรถhleๆง˜ๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใซๅฏพใ—ใฆ๏ผŒ Epstein็—‡ๅ€™็พคใงใฏๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ„ใ†็‚นใงไธก็—‡ๅ€™็พคใฏ้‘‘ๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅฎถ็ณปๅˆ†ๆžใ‚ˆใ‚Š๏ผŒ่ฒฌไปป้บไผๅญใฏ22q11-q13ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œnon-muscle myosin heavy chain typeIIA(NMMHC-IIA)ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MYH9้บไผๅญใŒ่ฆ‹ใ„ใ ใ•ใ‚ŒใŸใ€‚ใ“ใฎ้บไผๅญใฏๅทจๅคง่ก€ๅฐๆฟใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅ…ฑ้€š็™บ็พ็—‡็Šถใจใ™ใ‚‹Epstein็—‡ๅ€™็พค๏ผŒFechtner็—‡ๅ€™็พคใจใจใ‚‚ใซ๏ผŒMay-Hegglin็•ฐๅธธ๏ผŒ Sebastian็—‡ๅ€™็พคใฎ่ฒฌไปป้บไผๅญใงใ‚‚ใ‚ใ‚‹ใ€‚MYH9็•ฐๅธธ็—‡ใฎใ†ใกMay-Hegglin็•ฐๅธธใจSebastian็—‡ๅ€™็พคใฏ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฎๅฝขๆ…‹ใฎ้•ใ„ใซใ‚ˆใฃใฆๅŒบๅˆฅใ•ใ‚Œ๏ผŒใ“ใ‚Œใ‚‰2ใคใฎ็–พๆ‚ฃใงใฏ่…Ž็—‡็Šถใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100028NANDO:2200127
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_013_01.pdf
rdfs:label - "Lowe syndrome" + "Epstein syndrome" @en
rdfs:label - "ใƒญใ‚ฆ๏ผˆLowe๏ผ‰็—‡ๅ€™็พค" + "ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200893
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=949
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100008http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:altLabel + "Epstein็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007954
skos:prefLabel - "ใƒญใ‚ฆ๏ผˆLowe๏ผ‰็—‡ๅ€™็พค" + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100029 +
http://nanbyodata.jp/ontology/NANDO_2200128 (rdf:type owl:Class @@ -79312,41 +123832,86 @@

hasNotificationNumber42
+ dcterms:description + "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(systemic lupus erythematosus: SLE)ใฏ๏ผŒๆŠ—DNAๆŠ—ไฝ“ใ‚’ๅซใ‚€ๅ…็–ซ่ค‡ๅˆไฝ“(immune complex)ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅคš่‡“ๅ™จ็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็‚Ž็—‡ๆ€ง่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใชใ‹ใงใ‚‚๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž(lupus nephritis: LN)ใฏ๏ผŒSLEใซๅˆไฝตใ™ใ‚‹ๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‡“ๅ™จ็—…ๅค‰ใงใ‚ใ‚Š๏ผŒไบˆๅพŒใ‚’ๆฑบๅฎšใ™ใ‚‹ๅ› ๅญใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100029NANDO:2200128
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_014_01.pdf
rdfs:label - "Chronic respiratory disease" + "Lupus Nephritis" @en
rdfs:label - "ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ" + "ใ‚‹ใƒผใทใ™ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01500
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:altLabel + "LN" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005556
skos:prefLabel - "ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ" + "ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100030 +
http://nanbyodata.jp/ontology/NANDO_2200129 (rdf:type owl:Class @@ -79354,41 +123919,81 @@

hasNotificationNumber31
+ dcterms:description + "MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚" + @ja
dcterms:identifier2100030NANDO:2200129
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf
rdfs:label - "Airway obstruction and stenosis" + "rapidly progressive glomerulonephritis due to Microscopic Poly-angitis" @en
rdfs:label - "ๆฐ—้“็‹ญ็ช„" + "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:altLabel + "rapidly progressive glomerulonephritis due to MPA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017236
skos:prefLabel - "ๆฐ—้“็‹ญ็ช„" + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100031 +
http://nanbyodata.jp/ontology/NANDO_2200130 (rdf:type owl:Class @@ -79396,41 +124001,79 @@

hasNotificationNumber31
+ dcterms:description + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis๏ผšRPGN)ใจใฏ๏ผŒๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผšใŒๆๅ”ฑใ—ใŸ่จบๆ–ญๅŸบๆบ– (1)ใงใฏ๏ผŒใ€Œๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆใฎ็ตŒ้Žใงๆ€ฅ้€Ÿใซ่…Žไธๅ…จใŒ้€ฒ่กŒใ—๏ผŒ่ก€ๅฐฟ๏ผŒ่›‹็™ฝๅฐฟ๏ผŒๅ††ๆŸฑๅฐฟใชใฉใ‚’่ชใ‚ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใ€ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚WHOใงใฏใ€Œๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆฝœๅœจๆ€งใซ็™บ็—‡ใ™ใ‚‹๏ผŒ่‚‰็œผ็š„่ก€ๅฐฟ๏ผŒ่›‹็™ฝๅฐฟ๏ผŒ่ฒง่ก€๏ผŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹่…Žไธๅ…จ็—‡ๅ€™็พคใ€ใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎๅŸบๆบ–ใ‚’ๆบ€ใŸใ›ใฐ๏ผŒๅŽŸๅ› ใฎ็ณธ็ƒไฝ“่…Ž็‚Žใฎ็จฎ้กžใ‚’ๅ•ใ‚ใšRPGNใจใ•ใ‚Œใ‚‹ใ€‚ใ™ใชใ‚ใก๏ผŒRPGNใจใฏ็Šถๆ…‹ใ‚’่กจใ™่จบๆ–ญๅใงใ‚ใ‚Š๏ผŒๅ›บๆœ‰ใฎ็–พๆ‚ฃๅใงใฏใชใ„ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏ๏ผŒ่ฟ‘ๅนดWegener่‚‰่Šฝ่…ซใ‚ˆใ‚Šใใฎๅ็งฐใŒๅค‰ๆ›ดใจใชใฃใŸใ‚‚ใฎใง๏ผŒ1939ๅนดใซใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…WegenerใŒๆๅ”ฑใ—ใŸ๏ผŒโ‘ ่€ณ๏ผŒ็œผ๏ผŒ้ผปๅ’ฝ้ ญใ‚’ๅซใ‚€ไธŠๆฐ—้“ใŠใ‚ˆใณ่‚บใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผŒโ‘กๅ…จ่บซ่ซธ่‡“ๅ™จใฎๅฐใƒปไธญๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Ž๏ผŒโ‘ขๅฃŠๆญปๆ€งๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100031NANDO:2200130
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf
rdfs:label - "Bronchial asthma" + "rapidly progressive glomerulonephritis due to Granulomatosis with polyangiitis" @en
rdfs:label - "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" + "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9435
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012105
skos:prefLabel - "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" + "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + + + + + - + + + + + + + + + - + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#2100032 +
http://nanbyodata.jp/ontology/NANDO_2200131 (rdf:type owl:Class @@ -79438,88 +124081,98 @@

hasNotificationNumber36
+ dcterms:description + "้žๅฎšๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค (atypical hemolytic uremic syndrome, aHUS)ใฏ๏ผŒๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSใจADAMTS13(adisintegrin-like and metalloproteinase with thrombospondin type l motifs, member 13)ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… (thrombotic thrombocytopenic purpura, TTP)ไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ(thrombotic microangiopathy, TMA)ใง๏ผŒๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใƒป่ก€ๅฐๆฟๆธ›ๅฐ‘ใƒปๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury, AKI)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100032NANDO:2200131
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_017_01.pdf
rdfs:label - "Congenital central hypoventilation syndrome" + "Atypical hemolytic uremic syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00916http://nanbyodata.jp/ontology/NANDO_1200473
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029 + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200641
- skos:prefLabel - "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_017/
- - - - - + + - + - + + "aHUS" + @en - - + +
http://nanbyodata.jp/ontology/nando#2100033 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100033 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100010
- rdfs:label + skos:altLabel - "Interstitial pneumonia" + "Atypical haemolytic uraemic syndrome" @en
- rdfs:label + skos:altLabel - "้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016244
skos:prefLabel - "้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" + "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100034 +
http://nanbyodata.jp/ontology/NANDO_2200132 (rdf:type owl:Class @@ -79527,41 +124180,91 @@

hasNotificationNumber35
+ dcterms:description + "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค(nail-patella็—‡ๅ€™็พค๏ผŒMIM161200)ใฏ๏ผŒ็ˆชๅฝขๆˆไธๅ…จ๏ผŒ่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆ๏ผŒ่…ธ้ชจใฎ่ง’็Šถ็ช่ตท(Iliac horn)๏ผŒ่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’4ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—๏ผŒไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100034NANDO:2200132
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_018_01.pdf
rdfs:label - "primary ciliary dyskinesia" + "Nail-patella syndrome" @en
rdfs:label - "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" + "ใญใ„ใ‚‹ใƒปใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200967
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1051
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:altLabel + "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008061
skos:prefLabel - "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" + "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100035 +
http://nanbyodata.jp/ontology/NANDO_2200133 (rdf:type owl:Class @@ -79569,46 +124272,79 @@

hasNotificationNumber37
+ dcterms:description + "้žๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณ็”ฑๆฅใฎ็นŠ็ถญๆ€ง็‰ฉ่ณช๏ผˆใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ; FN๏ผ‰ใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ๅ‘ˆใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๆฒˆ็€ใ™ใ‚‹FNใฏ็ต„็น”็”ฑๆฅใงใชใ่ก€ๆผฟ็”ฑๆฅใงใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100035NANDO:2200133
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_019_01.pdf
rdfs:label - "Cystic fibrosis" + "Glomerulopathy with fibronectin deposits, fibronectin nephropathy" @en
rdfs:label - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" + "ใตใƒใถใ‚ใญใใกใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00218https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01260
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007671
skos:prefLabel - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" + "ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100036 +
http://nanbyodata.jp/ontology/NANDO_2200134 (rdf:type owl:Class @@ -79616,46 +124352,84 @@

hasNotificationNumber40
+ dcterms:description + "ใƒชใƒ่›‹็™ฝ็ณธ็ƒไฝ“็—‡๏ผˆlipoprotein glomerulopathy; LPG๏ผ‰ใฏใ€็ณธ็ƒไฝ“ๅ†…ใซใƒชใƒ่›‹็™ฝใ‚’ๅซใ‚€่ก€ๆ “ๆง˜็‰ฉ่ณชใŒๅ‡บ็พใ™ใ‚‹ใ€็‰น็•ฐ็š„ใช่…Ž้šœๅฎณใ‚’็คบใ™ๅŽŸ็™บๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1986 ๅนดใซๆ—ฅๆœฌใงๅˆใ‚ใฆ็™บ่ฆ‹ใ•ใ‚Œ1989ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใชใ•ใ‚Œ๏ผˆ๏ผ‘๏ผ‰ใ€็พๅœจใพใงใซๆ—ฅๆœฌใ‚„ไธญๅ›ฝใ‚’ใฏใ˜ใ‚ใจใ—ใŸไธ–็•Œๅ„ๅ›ฝใง150็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผˆ๏ผ’๏ผ‰ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๆ‹กๅผตใ—ใŸ็ณธ็ƒไฝ“่ก€็ฎก่…”ใซ็ถฒ็ŠถใฎๆทกๆŸ“ๆ€ง็‰ฉ่ณชใงใ‚ใ‚‹ใƒชใƒ่›‹็™ฝใŒ่ก€ๆ “็Šถใซๅ……ๆบ€ใ™ใ‚‹็‰น็•ฐ็š„ใชๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆโ…ขๅž‹้ซ˜่„‚่ก€็—‡้กžไผผใฎๆ‰€่ฆ‹ใ‚„่ก€ๆธ…ใ‚ขใƒ่›‹็™ฝ๏ผˆใ‚ขใƒ๏ผ‰E้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใใฎๅŽŸๅ› ใจใ—ใฆใ€ใ•ใพใ–ใพใชใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใฎApoE้บไผๅญๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœช็™บ็—‡ไฟๅ› ่€…ใ‚‚ใŠใ‚Šใ€ไป–ใฎ่ฆๅ› ใฎ้–ขไธŽใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่›‹็™ฝๅฐฟใง็™บ็—‡ใ—ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็ตŒใฆ็ด„ๅŠๆ•ฐใŒๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚Šใ€่…Ž็งปๆคใ‚’ใ—ใฆใ‚‚ๅ†็™บใ—็งปๆค่…ŽใŒๅปƒ็ตถใซ่‡ณใ‚‹ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒ๏ผˆ3, 4๏ผ‰ใ€่ฟ‘ๅนดใ€ๆฒป็™‚ๆณ•ใจใ—ใฆใƒ•ใ‚ฃใƒ–ใƒฉใƒผใƒˆใ‚’ไธญๅฟƒใจใ—ใŸ้ซ˜่„‚่ก€็—‡ๆ”นๅ–„่–ฌใŒๆœ‰็”จใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผˆ๏ผ•,6, 7๏ผ‰ใ€‚" + @ja
dcterms:identifier2100036NANDO:2200134
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_020_01.pdf
rdfs:label - "Bronchiectasis" + "Lipoprotein glomerulopathy" @en
rdfs:label - "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" + "ใ‚ŠใฝใŸใ‚“ใฑใใ—ใใ‚…ใ†ใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00892http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7703
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00887
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100010
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012725
skos:prefLabel - "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" + "ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡" @ja
- - + + + + + + + + + - + + + + + + "7ใ‹ใ‚‰20ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100037 +
http://nanbyodata.jp/ontology/NANDO_2200135 (rdf:type owl:Class @@ -79663,41 +124437,69 @@

hasNotificationNumber43
+ dcterms:description + "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ่›‹็™ฝๅฐฟใŠใ‚ˆใณ๏ผˆใพใŸใฏ๏ผ‰่ก€ๅฐฟใฎๅฐฟๆ‰€่ฆ‹็•ฐๅธธใŒ1ๅนดไปฅไธŠ็ถšใใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹่…Ž็–พๆ‚ฃใฎ่‡จๅบŠๆฆ‚ๅฟตใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅŽŸ็–พๆ‚ฃใจใ—ใฆ๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซ่กจใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚่กจใ€€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽใฎๅŽŸ็–พๆ‚ฃ" + @ja
dcterms:identifier2100037NANDO:2200135
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_021_01.pdf
rdfs:label - "Idiopathic pulmonary hemosiderosis" - @en
rdfs:label - "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" + "7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
+ rdfs:label + "Other chronic glomerulonephritis" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100010
skos:prefLabel - "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" + "7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100038 +
http://nanbyodata.jp/ontology/NANDO_2200136 (rdf:type owl:Class @@ -79705,41 +124507,81 @@

hasNotificationNumber47
+ dcterms:description + "ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž(TIN)ใฏ็—…็†็ต„็น”ๅญฆ็š„ๆฆ‚ๅฟตใง๏ผŒๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณ้–“่ณชใฎ็‚Ž็—‡ใ‚’ไธปไฝ“ใจใ—ใŸ้›‘ๅคšใชๅฝขๆ…‹ๅญฆ็š„ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹่…Ž็—…ๅค‰ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒๅคšๅฝฉใงๅบƒ็ฏ„ใช็—…ๅ› ๏ผŒ็—…ๆ…‹๏ผŒ่‡จๅบŠ็š„ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹(1๏ผŒ 2)ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ๏ผŒๆตฎ่…ซใ‚„็ดฐ่ƒžๆตธๆฝคใชใฉใฎๆ€ฅๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ€ฅๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใจ๏ผŒ้–“่ณช็ทš็ถญๅŒ–๏ผŒๅฐฟ็ดฐ็ฎกใฎ่Ž็ธฎใชใฉใฎๆ…ขๆ€งๅค‰ๅŒ–ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—๏ผŒๆ€ฅๆ€งใงใ‚‚ใ•ใพใ–ใพใช็จ‹ๅบฆใซ็ทš็ถญๅŒ–็—…ๅค‰ใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใพใŸๆ…ขๆ€งใงใ‚‚็‚Ž็—‡็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŸใ‚๏ผŒๆ€ฅๆ€งใƒปๆ…ขๆ€งใฎ้‘‘ๅˆฅใฏ็—…็†็ต„็น”ๆ‰€่ฆ‹ใฎใฟใงใฏๆ˜Ž็ขบใงใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏ็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใจ่‡จๅบŠ็ตŒ้Žใ‚’่€ƒๆ…ฎใ—ใฆ๏ผŒๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆ…ขๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹(2)ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใ‚„่ช˜ๅ› ใ‹ใ‚‰ๅˆ†้กžใ™ใ‚‹่€ƒใˆๆ–นใŒWHOใฎๅˆ†้กžใŒๅบƒใ็”จใ„ใ‚‰ใ‚Œใ‚‹(่กจ)(3)ใ€‚" + @ja
dcterms:identifier2100038NANDO:2200136
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_03_022_01.pdf
rdfs:label - "Chronic lung disease" + "Tubulointerstitial nephritis" @en
rdfs:label - "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" + "ใพใ‚“ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_03_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100011
+ skos:altLabel + "TIN" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001085
skos:prefLabel - "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" + "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100039 +
http://nanbyodata.jp/ontology/NANDO_2200137 (rdf:type owl:Class @@ -79747,46 +124589,74 @@

hasNotificationNumber44
+ dcterms:description + "ๆ…ขๆ€ง่…ŽๅญŸ่…Ž็‚Ž(chronicใ€€pyelonephritis๏ผ‰ใฏๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฐฟ่ทฏๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ๏ผŒๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Žใจ็งฐใ›ใ‚‰ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฎๆฎ†ใฉใŒ้€†ๆตๆ€ง่…Ž็—‡๏ผˆreflux nephropathy๏ผ‰ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹(1)ใ€‚" + @ja
dcterms:identifier2100039NANDO:2200137
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_04_023_01.pdf
rdfs:label - "Bronchiolitis obliterans" + "Chronic pyelonephritis" @en
rdfs:label - "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ†ใ˜ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01873https://www.shouman.jp/disease/details/02_04_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100012
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001110
skos:prefLabel - "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" + "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100040 +
http://nanbyodata.jp/ontology/NANDO_2200138 (rdf:type owl:Class @@ -79794,46 +124664,74 @@

hasNotificationNumber1
+ dcterms:description + "ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅฏๆบถๆ€ง่›‹็™ฝใŒๅ‡้›†ใ—๏ผŒฮฒๆง‹้€ ใ‚’ๆœ‰ใ™ใ‚‹ไธๆบถๅŒ–่›‹็™ฝใŒใ•ใพใ–ใพใช่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’ไป‹ใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒใ“ใฎใ†ใกใ‚ขใƒŸใƒญใ‚คใƒ‰่›‹็™ฝใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ—๏ผŒ็ต„็น”้šœๅฎณใ‚’่ตทใ“ใ™ใ‚‚ใฎใŒใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100040NANDO:2200138
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_05_024_01.pdf
rdfs:label - "Congenital diaphragmatic hernia" + "Amyloid nephropathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + "ใ‚ใฟใ‚ใ„ใฉใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01241https://www.shouman.jp/disease/details/02_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100013
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019065
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100041 +
http://nanbyodata.jp/ontology/NANDO_2200139 (rdf:type owl:Class @@ -79841,41 +124739,93 @@

hasNotificationNumber3
+ dcterms:description + "่‹ฅๅนด(่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใ™ใ‚‹ๅ‰)ใ‹ใ‚‰ๆŽ’ๆณ„ไฝŽไธ‹ๅž‹้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ—๏ผŒ30๏ฝž40ๆญณไปฃใงๆœซๆœŸ่…Žไธๅ…จใซ่‡ณใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹1)ใ€‚ ้ซ˜็Ž‡ใซ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ—๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใซๅฏพใ™ใ‚‹ๅๅˆ†ใชๆฒป็™‚ใ‚’ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่…Ž้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„1๏ฝž4)ใ€‚็”ทๅฅณใจใ‚‚ใซ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€็—…ๅใซใคใ„ใฆใฏ๏ผŒๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง็—›้ขจ่…Ž็—‡(familial juvenile gouty nephropathy ;FJGN)๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่…Ž็—‡(familial nephropathy associated with hyper uricemia ; FNAH)๏ผŒๅฎถๆ—ๆ€ง่…Žๆ€ง็—›้ขจ (familial renal gout)ใชใฉใฎๅ‘ผใณๆ–นใŒใ‚ใ‚Š๏ผŒ็ตฑไธ€ใ•ใ‚Œใฆใ„ใชใ„ใ€‚่ฟ‘ๅนดuromodulin้บไผๅญ็•ฐๅธธใซๅŸบใฅใ็–พๆ‚ฃ็พคใŒๆๅ”ฑใ•ใ‚Œ๏ผŒๆœฌ็—‡ใฏ็พๅœจuromodulin้–ข้€ฃ่…Ž็–พๆ‚ฃ๏ผˆuromodulin-associated kidney diseases: UAKD๏ผ‰ใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100041NANDO:2200139
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_06_025_01.pdf
rdfs:label - "Congenital cystic lung disease" + "Familial juvenile hyperuricemic nephropathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" + "ใ‹ใžใใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใ†ใซใ‚‡ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02011
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_06_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100029http://nanbyodata.jp/ontology/NANDO_2100014
+ skos:altLabel + "FJHN" + @en
+ skos:altLabel + "Familial juvenile hyperuricaemic nephropathy" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000608
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" + "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100042 +
http://nanbyodata.jp/ontology/NANDO_2200140 (rdf:type owl:Class @@ -79883,41 +124833,103 @@

hasNotificationNumber26
+ dcterms:description + "ใƒใƒ•ใƒญใƒณ็™†(nephronophthisis: NPH)ใฏ๏ผŒ่…Ž้ซ„่ณชใซๅšข่ƒžๅฝขๆˆใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใงใ‚ใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ็กฌๅŒ–๏ผŒ็กๅญๅŒ–็ณธ็ƒไฝ“ใ‚’ไผดใ†ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ้บไผๅฝขๅผใฏ๏ผŒไธปใจใ—ใฆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™ใŒ๏ผŒๅญค็™บไพ‹ใ‚‚ใ‚ใ‚‹ (1)ใ€‚ๆœซๆœŸ่…Žไธๅ…จ(ESRD)ใซ่‡ณใ‚‹ๆ™‚ๆœŸใซใ‚ˆใ‚Š๏ผŒ3ใคใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใใ‚Œใ‚‰ใฏ๏ผŒ3-5ๆญณ้ ƒใพใงใซESRDใจใชใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒณ็™†(NPH2)๏ผŒๅนผๅฐ‘ๆœŸใ‹ใ‚‰ๅญฆ็ซฅๆœŸใพใงๆฏ”่ผƒ็š„่‹ฅๅนดๆœŸใซ็™บ็—‡ใ—๏ผŒๅนณๅ‡13-14ๆญณใงESRDใซ็งป่กŒใ™ใ‚‹่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†(NPH1)๏ผŒ ๅนณๅ‡ๅนด้ฝข19ๆญณ้ ƒใซESRDใซ่‡ณใ‚‹ๆ€ๆ˜ฅๆœŸใƒใƒ•ใƒญใƒณ็™†(NPH3)ใงใ‚ใ‚Š๏ผŒใชใ‹ใงใ‚‚ๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใŒ่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†ใงใ‚ใ‚‹ใ€‚็พๅœจ๏ผŒใƒใƒ•ใƒญใƒณ็™†ใซใฏ๏ผŒNPHP1๏ฝžNPHP16ใพใงใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒ๏ผŒใ“ใ‚Œใ‚‰ใฎใ„ใšใ‚Œใฎ้บไผๅญใซใ‚‚็•ฐๅธธใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ใ‚‚ใฎใ‚‚ๅฐ‘ใชใ‹ใ‚‰ใšๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใซๅฏพใ™ใ‚‹็‰นๆฎŠใชๆฒป็™‚ๆณ•ใฏใชใ๏ผŒESRDใฏ้ฟใ‘ใ‚‰ใ‚Œใชใ„็Šถๆณใซใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100042NANDO:2200140
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_07_026_01.pdf
rdfs:label - "Chronic heart disease" + "Nephronophthisis" @en
rdfs:label - "ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ" + "ใญใตใ‚ใ‚“ใ‚ใ†" + @ja-Hira
+ rdfs:label + "ใƒใƒ•ใƒญใƒณ็™†" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2714
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00537
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_07_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100015
+ skos:altLabel + "NPH" + @en
+ skos:altLabel + "juvenile nephronophthisis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009728
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019005
skos:prefLabel - "ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ" + "ใƒใƒ•ใƒญใƒณ็™†" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100043 +
http://nanbyodata.jp/ontology/NANDO_2200141 (rdf:type owl:Class @@ -79925,46 +124937,79 @@

hasNotificationNumber12
+ dcterms:description + "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœงใฏๅคงๅ‹•่„ˆใ‹ใ‚‰่…Ž่‡“ใธใจใคใชใŒใ‚‹่…Žๅ‹•่„ˆใพใŸใฏใใฎๅˆ†ๆžใŒ้ƒจๅˆ†็š„ใ‚ใ‚‹ใ„ใฏๅฎŒๅ…จใซ้–‰ๅกžใ—ใŸ็ตๆžœ๏ผŒใƒฌใƒ‹ใƒณใƒปใ‚ขใƒณใ‚ธใ‚ชใƒ†ใƒณใ‚ทใƒณ็ณปใŒๅ†—้€ฒใ—ใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹้ซ˜่ก€ๅœงใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸๅ› ใจใ—ใฆๆˆไบบใงใฏๅ‹•่„ˆ็กฌๅŒ–็—‡๏ผˆ็ฒฅ็Šถๅ‹•่„ˆ็กฌๅŒ–๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ๏ผŒๅฐๅ…ใƒป่‹ฅๅนด่€…ใงใฏ็ทš็ถญ็ญ‹็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ„(1, 2)ใ€‚" + @ja
dcterms:identifier2100043NANDO:2200141
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_08_027_01.pdf
rdfs:label - "Sick sinus syndrome" + "Renovascular hypertension" @en
rdfs:label - "ๆดžไธๅ…จ็—‡ๅ€™็พค" + "ใ˜ใ‚“ใ‘ใฃใ‹ใ‚“ใ›ใ„ใ“ใ†ใ‘ใคใ‚ใค" + @ja-Hira
+ rdfs:label + "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00729https://www.shouman.jp/disease/details/02_08_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100016
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006947
skos:prefLabel - "ๆดžไธๅ…จ็—‡ๅ€™็พค" + "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100044 +
http://nanbyodata.jp/ontology/NANDO_2200142 (rdf:type owl:Class @@ -79972,41 +125017,76 @@

hasNotificationNumber13
+ dcterms:description + "่…Ž้™่„ˆ่ก€ๆ “็—‡ใฏ๏ผŒ่…Ž้™่„ˆๅ†…ใฎ่ก€ๆ “ๅฝขๆˆใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100044NANDO:2200142
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_09_028_01.pdf
rdfs:label - "Mobitz type II second degree atrioventricular block" + "Renal vein thrombosis" @en
rdfs:label - "ใƒขใƒ“ใƒƒใƒ„๏ผˆMobitz๏ผ‰2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ " + "ใ˜ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…Ž้™่„ˆ่ก€ๆ “็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_09_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100017
+ skos:altLabel + "RVT" + @en
skos:prefLabel - "ใƒขใƒ“ใƒƒใƒ„๏ผˆMobitz๏ผ‰2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ " + "่…Ž้™่„ˆ่ก€ๆ “็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100045 +
http://nanbyodata.jp/ontology/NANDO_2200143 (rdf:type owl:Class @@ -80014,41 +125094,69 @@

hasNotificationNumber14
+ dcterms:description + "่…Žๅ‹•้™่„ˆ็—ฉใฏๅŽŸๅ› ใซใ‚ˆใ‚‰ใš๏ผŒ่…Žๅ†…ใง้™่„ˆ็ณปใจๅ‹•่„ˆ็ณปใŒ็•ฐๅธธใชไบค้€šใ‚’ใ‚‚ใฃใŸใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹(1)ใ€‚ๆœฌ็—‡ใฏๆฏ”่ผƒ็š„ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็„ก็—‡ๅ€™ใงๆฝœๅœจใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚‚็›ธๅฝ“ๆ•ฐใ‚ใ‚‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎ็–พๆ‚ฃใฎ็ฒพๆŸปใซใฆๆ–ฝ่กŒใ•ใ‚ŒใŸ็”ปๅƒๆคœๆŸปใงๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚" + @ja
dcterms:identifier2100045NANDO:2200143
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_10_029_01.pdf
rdfs:label - "Complete atrio-ventricular block" + "Renal arteriovenous fistula" @en
rdfs:label - "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ " + "ใ˜ใ‚“ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ†" + @ja-Hira
+ rdfs:label + "่…Žๅ‹•้™่„ˆ็˜ป" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_10_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100018
skos:prefLabel - "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ " + "่…Žๅ‹•้™่„ˆ็˜ป" @ja
- - + + + + + + + + + - + + + + + + + + + - - + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100046 +
http://nanbyodata.jp/ontology/NANDO_2200144 (rdf:type owl:Class @@ -80056,41 +125164,86 @@

hasNotificationNumber16
+ dcterms:description + "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆrenal tubular acidosis : RTA๏ผ‰ใฏ๏ผŒๅ…ˆๅคฉๆ€งใ‚ใ‚‹ใ„ใฏๅพŒๅคฉๆ€งใฎ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒๅฐฟไธญใธใฎ้…ธๆŽ’ๆณ„ใŒ้šœๅฎณใ•ใ‚Œ๏ผŒ้…ธ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใก้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹RTAใŒ้ ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(distal RTA๏ผšdRTA๏ผŒIๅž‹RTA)๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹RTAใŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(proximal RTA๏ผšpRTA๏ผŒIIๅž‹RTA)๏ผŒ้ ไฝๅฐฟ็ดฐ็ฎกใงใฎๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆฑ ้šœๅฎณใจ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ้šœๅฎณใ‚’ๅˆไฝตใ—ใŸ็Šถๆ…‹ใ‚’hybrid RTA(IIIๅž‹RTA)๏ผŒใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏไฝœ็”จไธๅ…จใซใ‚ˆใ‚Š้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Kใจๆฐด็ด ใ‚คใ‚ชใƒณใฎๆŽ’ๆฑ ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚’้ซ˜K่ก€ๆ€งdRTA(hyper K dRTA๏ผŒIVๅž‹RTA)ใจใ‚ˆใถใ€‚ใŸใ ใ—๏ผŒIIIๅž‹ใฏไนณๅนผๅ…ใซๅคšใใฟใ‚‰ใ‚Œใ‚‹Iๅž‹RTAใฎ้‡็—‡ๅž‹ใจใ•ใ‚Œ๏ผŒ็พๅœจใงใฏ็”จใ„ใ‚‰ใ‚Œใฆใ„ใชใ„ใ€‚" + @ja
dcterms:identifier2100046NANDO:2200144
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_11_030_01.pdf
rdfs:label - "Bundle branch block" + "Renal tubular acidosis" @en
rdfs:label - "่„šใƒ–ใƒญใƒƒใ‚ฏ" + "ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ›ใ„ใ‚ใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042 + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02310
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_11_030/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100019
+ skos:altLabel + "RTA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001909
skos:prefLabel - "่„šใƒ–ใƒญใƒƒใ‚ฏ" + "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + + + + + + + + + - + + + + + - - - - + "ใŽใฃใฆใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - -
http://nanbyodata.jp/ontology/nando#2100047 +
http://nanbyodata.jp/ontology/NANDO_2200145 (rdf:type owl:Class @@ -80098,83 +125251,86 @@

hasNotificationNumber4
+ dcterms:description + "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚" + @ja
dcterms:identifier2100047NANDO:2200145
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_12_031_01.pdf
rdfs:label - "Polymorphic ventricular premature beat" + "Gitelman syndrome" @en
rdfs:label - "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042
- skos:prefLabel + rdfs:label - "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" + "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
- - - - - + + - - + + - + + + + + - - + +
http://nanbyodata.jp/ontology/nando#2100048 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100048 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2891
- rdfs:label - "Supraventricular tachycardia" - @en + rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_12_031/
- rdfs:label + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100020
+ skos:altLabel - "ไธŠๅฎค้ ปๆ‹" + "Gitelman็—‡ๅ€™็พค" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009904
skos:prefLabel - "ไธŠๅฎค้ ปๆ‹" + "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100049 +
http://nanbyodata.jp/ontology/NANDO_2200146 (rdf:type owl:Class @@ -80182,41 +125338,86 @@

hasNotificationNumber27
+ dcterms:description + "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚" + @ja
dcterms:identifier2100049NANDO:2200146
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_13_032_01.pdf
rdfs:label - "Ventricular tachycardia" + "Bartter syndrome" @en
rdfs:label - "ๅฟƒๅฎค้ ปๆ‹" + "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00239
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_13_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100021
+ skos:altLabel + "Bartter็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015231
skos:prefLabel - "ๅฟƒๅฎค้ ปๆ‹" + "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100050 +
http://nanbyodata.jp/ontology/NANDO_2200147 (rdf:type owl:Class @@ -80224,41 +125425,76 @@

hasNotificationNumber15
+ dcterms:description + "ๅฐฟ่ทฏใซ็ต็ŸณใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ๅฐฟ่ทฏ็ต็Ÿณ็—‡ใจใ„ใ„๏ผŒ่…Ž๏ฝžๅฐฟ็ฎกๅ†…ใซ็”Ÿใ˜ใ‚‹ไธŠ้ƒจๅฐฟ่ทฏ็ต็Ÿณใจ๏ผŒ่†€่ƒฑ๏ฝžๅฐฟ้“ใซ็”Ÿใ˜ใ‚‹ไธ‹้ƒจๅฐฟ่ทฏ็ต็ŸณใจใซๅŒบๅˆฅใ™ใ‚‹ใ€‚ๅฐๅ…ใฎๅฐฟ่ทฏ็ต็ŸณใฏๆˆไบบใจๅŒๆง˜ใซไธŠ้ƒจๅฐฟ่ทฏใŒๅคšใ„ใŒ๏ผŒ้ ปๅบฆใฏไฝŽใๅ…จๅฐฟ่ทฏ็ต็Ÿณๆ‚ฃ่€…ใฎ1๏ผ…ใฎ็™บ็—‡็Ž‡ใงใ‚ใ‚‹(1)ใ€‚ๆ€งๅทฎใฏใฟใ‚‰ใ‚Œใš๏ผŒใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)็ต็Ÿณใ‚„ๆ„ŸๆŸ“็ต็Ÿณใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ใพใŸ๏ผŒไปฃ่ฌ็•ฐๅธธใ‚„ๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100050NANDO:2200147
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_14_033_01.pdf
rdfs:label - "Atrial flutter" + "Nephro- and urolithiasis" @en
rdfs:label - "ๅฟƒๆˆฟ็ฒ—ๅ‹•" + "ใ˜ใ‚“ใซใ‚‡ใ†ใ‹ใ‚“ใ‘ใฃใ›ใ" + @ja-Hira
+ rdfs:label + "่…Žๅฐฟ็ฎก็ต็Ÿณ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_14_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100022
+ skos:altLabel + "Nephro-urolithiasis" + @en
skos:prefLabel - "ๅฟƒๆˆฟ็ฒ—ๅ‹•" + "่…Žๅฐฟ็ฎก็ต็Ÿณ" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100051 +
http://nanbyodata.jp/ontology/NANDO_2200148 (rdf:type owl:Class @@ -80266,46 +125502,74 @@

hasNotificationNumber46
+ dcterms:description + "่…Ž่…ซ็˜ใฏ่…ŽๅฎŸ่ณชใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚Š๏ผŒ่…ŽๅฎŸ่ณชใ‚’ๆง‹ๆˆใ™ใ‚‹ๆˆๅˆ†ใงใ‚ใ‚‹ๅฐฟ็ดฐ็ฎกใ‚„้›†ๅˆ็ฎกใชใฉใฎไธŠ็šฎใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€ง่…ซ็˜ใจ๏ผŒๅนณๆป‘็ญ‹ใ‚„่„‚่‚ชใชใฉ้žไธŠ็šฎๆ€งๆˆๅˆ†ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹้žไธŠ็šฎๆ€ง่…ซ็˜ใŠใ‚ˆใณไธŠ็šฎๆ€งๆˆๅˆ†ใจ้žไธŠ็šฎๆ€งๆˆๅˆ†ใฎๆททๅœจใ™ใ‚‹ใใฎไป–ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใฟใ‚‰ใ‚Œใ‚‹่…Ž่…ซ็˜ใฎ็ด„90๏ผ…ใฏ๏ผŒไธŠ็šฎๆˆๅˆ†ใจ้žไธŠ็šฎๆˆๅˆ†ใŒๆททๅœจใ™ใ‚‹่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใงใ‚ใ‚‹ใ€‚ใ€€่…ซ็˜ใฎๅข—ๅคงใซใ‚ˆใ‚‹่…ŽๅฎŸ่ณชใฎ็›ดๆŽฅ็š„ใชไพต่ฅฒใฎใฟใชใ‚‰ใš๏ผŒๆฒป็™‚ใจใ—ใฆใŠใ“ใชใ†่…ซ็˜ๆ‘˜ๅ‡บใ‚„่…Žๅ…จๆ‘˜่ก“๏ผŒๅŒ–ๅญฆ็™‚ๆณ•๏ผŒๆ”พๅฐ„็ทš็™‚ๆณ•ใชใฉใฎๆฒป็™‚ใŒ่…ŽๆฉŸ่ƒฝใฎๅ–ชๅคฑใ‚„ๆ…ขๆ€ง่…Žไธๅ…จใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100051NANDO:2200148
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf
rdfs:label - "Atrial Fibrillation" + "Chronic renal failure due to renal tumour" @en
rdfs:label - "ๅฟƒๆˆฟ็ดฐๅ‹•" + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใ˜ใ‚“ใ—ใ‚…ใ‚ˆใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00731https://www.shouman.jp/disease/details/02_15_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100023
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005300
skos:prefLabel - "ๅฟƒๆˆฟ็ดฐๅ‹•" + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100052 +
http://nanbyodata.jp/ontology/NANDO_2200149 (rdf:type owl:Class @@ -80313,41 +125577,76 @@

hasNotificationNumber45
+ dcterms:description + "ๆ€ฅๆ€ง่…Žไธๅ…จ(acute renal failure: ARF)ใฏ๏ผŒ่ก€ๆธ…ใ‚ฏใƒฌใ‚กใƒใƒ‹ใƒณ(Cr)ๅ€คใ‚„่ก€ๆถฒๅฐฟ็ด ็ช’็ด (BUN)ๅ€คใฎไธŠๆ˜‡ใง็คบใ•ใ‚Œใ‚‹่…ŽๆฉŸ่ƒฝใฎๆ€ฅ้€ŸใชไฝŽไธ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚‚ใฎใง๏ผŒ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆใฏ๏ผŒๆ•ฐๆ—ฅใ‹ใ‚‰ๆ•ฐ้€ฑ้–“ใฎ็ตŒ้Žใง๏ผŒๆ€ฅ้€Ÿใซ่…ŽๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ใฆ่›‹็™ฝใฎๆœ€็ต‚็”ฃ็‰ฉใ‚’ใฏใ˜ใ‚ใจใ—ใŸ่€ๅปƒ็‰ฉใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใŸ็ตๆžœ๏ผŒ้ซ˜็ช’็ด ่ก€็—‡๏ผŒๆบขๆฐดใƒป้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใชใฉใฎๆฐด้›ป่งฃ่ณช็•ฐๅธธ๏ผŒไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎ้…ธๅกฉๅŸบๅนณ่กกใฎ้šœๅฎณใŒๅ‡บ็พใ™ใ‚‹็—‡ๅ€™็พคใจใ•ใ‚ŒใฆใใŸใ€‚ARFใฎ่จบๆ–ญๅŸบๆบ–ใจใ—ใฆใฏ๏ผŒใ€Œโ‘ ่ก€ๆธ…Crๅ€คใŒ2.0๏ฝž2.5mg/dLไปฅไธŠใซๆ€ฅ้€ŸใซไธŠๆ˜‡๏ผŒโ‘กๅŸบ็คŽใซ่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ๏ผŒ่ก€ๆธ…Crๅ€คใŒๅ‰ๅ€คใฎ50%ไปฅไธŠไธŠๆ˜‡๏ผŒโ‘ข่ก€ๆธ…Crๅ€คใŒ0.5mg/dL/ๆ—ฅ๏ผŒใ‚‚ใ—ใใฏBUNใŒ10mg/dL/ๆ—ฅไปฅไธŠใฎ้€ŸๅบฆใงไธŠๆ˜‡๏ผŒใฎใ„ใšใ‚Œใ‹ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ‚‚ใฎใ€ใจ็คบใ•ใ‚ŒใฆใใŸ(1)ใ€‚ใ—ใ‹ใ—๏ผŒARFใงใฏ๏ผŒ่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใฎ็จ‹ๅบฆใ‚„้€Ÿๅบฆใซใคใ„ใฆใฎไธ–็•Œๆจ™ๆบ–ใฎ่จบๆ–ญๅŸบๆบ–ใฏ๏ผŒใ“ใ‚Œใพใง็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ‹ใฃใŸใ€‚ใใฎใŸใ‚๏ผŒARFใฎๆญปไบก็Ž‡ใŒๆธ›ๅฐ‘ใ›ใš๏ผŒ50%ไปฅไธŠใฎ็Šถๆ…‹ใŒ็ถšใ„ใฆใ„ใŸใ€‚ARFใฎ้ซ˜ใ„ๆญปไบก็Ž‡ใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซใฏ๏ผŒ่จบๆ–ญๅŸบๆบ–ใ‚’ไธ–็•Œ็š„ใซ็ตฑไธ€ใ—๏ผŒใ‚จใƒ“ใƒ‡ใƒณใ‚นใ‚’ๅ…ฑๆœ‰ใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ๏ผŒๅพ“ๆฅ่‡จๅบŠไธŠใปใจใ‚“ใฉๅ•้กŒ่ฆ–ใ•ใ‚Œใชใ‹ใฃใŸใ‚ใšใ‹ใช่ก€ๆธ…Crๅ€คใฎไธŠๆ˜‡ใŒ๏ผŒๆ‚ฃ่€…ใฎๆญปไบกใซๅคงใใๅฏ„ไธŽใ™ใ‚‹ใ“ใจใŒใƒกใ‚ฟใ‚ขใƒŠใƒชใ‚ทใ‚นใงใ‚‚ๆคœ่จผใ•ใ‚Œ๏ผŒใ“ใ‚ŒใพใงARFใซ้™ฅใฃใฆใ‹ใ‚‰่ก€ๆถฒๆต„ๅŒ–็™‚ๆณ•ใ‚’่กŒใ†ๅฏพ่ฑกใ‚’๏ผŒ็”Ÿๅ‘ฝไบˆๅพŒใซ็›ดๆŽฅๅฝฑ้Ÿฟใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใจใ—ใฆ๏ผŒใ‚ˆใ‚Šๆ—ฉๆœŸใ‚ใ‚‹ใ„ใฏ่ปฝ็—‡ใฎๆฎต้šŽใ‹ใ‚‰๏ผŒ็ฉๆฅต็š„ใซ่จบๆ–ญใƒปๆฒป็™‚ไป‹ๅ…ฅใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใจใชใ‚Š๏ผŒๅพ“ๆฅใฎARFใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury:AKI)ใธ๏ผŒใ‚ˆใ‚ŠๅŒ…ๆ‹ฌ็š„ใซๆ€ฅๆฟ€ใช่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ใใŸใ™็—…ๆ…‹ใŒๆๅ”ฑใ•ใ‚Œใ‚‹ใซ่‡ณใฃใŸใ€‚ใ€€ใ—ใ‹ใ—๏ผŒๅฐๅ…AKIใฎๆญปไบก็Ž‡ใฏ๏ผŒ่ฟ‘ๅนดใฎ่…Žไปฃๆ›ฟ็™‚ๆณ•ใฎ้€ฒๆญฉใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ35๏ฝž73%ใจไธ่‰ฏใงใ‚ใ‚‹ใ€‚็‰นใซ๏ผŒๆ•—่ก€็—‡ๅˆไฝตไพ‹๏ผŒๅฟƒ็–พๆ‚ฃๆ‰‹่ก“ไพ‹๏ผŒๆ‚ชๆ€ง่…ซ็˜ๅˆไฝตไพ‹๏ผŒใใ—ใฆๅคš่‡“ๅ™จไธๅ…จไพ‹ใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒAKIใ‹ใ‚‰ๅ›žๅพฉใ—ใฆใ‚‚CKDใซ็งป่กŒใ™ใ‚‹็ขบ็Ž‡ใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใพใงใฎๅ ฑๅ‘Šใง40๏ฝž60%ใซ้”ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100052NANDO:2200149
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf
rdfs:label - "Ventricular fibrillation" + "Chronic renal failure due to acute tubular necrosis or renal ischemias" @en
rdfs:label - "ๅฟƒๅฎค็ดฐๅ‹•" + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใใ‚…ใ†ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใˆใ—ใพใŸใฏใ˜ใ‚“ใใ‚‡ใ‘ใคใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_15_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100023
+ skos:altLabel + "Chronic renal failure due to acute tubular necrosis or renal ischaemias" + @en
skos:prefLabel - "ๅฟƒๅฎค็ดฐๅ‹•" + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100053 +
http://nanbyodata.jp/ontology/NANDO_2200150 (rdf:type owl:Class @@ -80355,41 +125654,67 @@

hasNotificationNumber45
dcterms:identifier2100053NANDO:2200150
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf
rdfs:label - "Long QT syndrome" + "Chronic renal failure due to acute tubular necrosis" @en
rdfs:label - "QTๅปถ้•ท็—‡ๅ€™็พค" + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใใ‚…ใ†ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใˆใ—ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_15_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200149
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005300
skos:prefLabel - "QTๅปถ้•ท็—‡ๅ€™็พค" + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100054 +
http://nanbyodata.jp/ontology/NANDO_2200151 (rdf:type owl:Class @@ -80397,46 +125722,74 @@

hasNotificationNumber45
dcterms:identifier2100054NANDO:2200151
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf
rdfs:label - "Hypertrophic cardiomyopathy" + "Chronic renal failure due to renal ischemias" @en
rdfs:label - "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใ˜ใ‚“ใใ‚‡ใ‘ใคใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00292https://www.shouman.jp/disease/details/02_15_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200149
+ skos:altLabel + "Chronic renal failure due to renal ischaemias" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005300
skos:prefLabel - "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100055 +
http://nanbyodata.jp/ontology/NANDO_2200152 (rdf:type owl:Class @@ -80444,46 +125797,93 @@

hasNotificationNumber8
+ dcterms:description + "่…Žใฎ็•ฐๅฝขๆˆใ‚’ไผดใ‚ใชใ„ไธกๅดๆ€งใณใพใ‚“ๆ€งๅšข่ƒžๅฝขๆˆใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง่…Ž็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผˆADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผˆARPKD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใฉใกใ‚‰ใ‚‚็–พๆ‚ฃ่‡ชไฝ“ใซๅฏพใ™ใ‚‹ๆฒป็™‚ๆณ•ใฏใชใ๏ผŒ่…Žไธๅ…จใฎๆฒป็™‚ใ‚„ๅˆไฝต็—‡ๆฒป็™‚๏ผŒๅฏพ็—‡็™‚ๆณ•ใŒไธปไฝ“ใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100055NANDO:2200152
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_036_01.pdf
rdfs:label - "Arrhythmogenic right ventricular cardiomyopathy or dysplasia" + "Polycystic kidney disease" @en
rdfs:label - "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" + "ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00293http://nanbyodata.jp/ontology/NANDO_1200367
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100024
+ skos:altLabel + "PKD" + @en
+ skos:altLabel + "Polycystic kidney" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020642
skos:prefLabel - "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" + "ๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
- - + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100056 +
http://nanbyodata.jp/ontology/NANDO_2200153 (rdf:type owl:Class @@ -80491,41 +125891,86 @@

hasNotificationNumber8
dcterms:identifier2100056NANDO:2200153
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_037_01.pdf
rdfs:label - "Non-compaction of the ventricle" + "Autosomal dominant polycystic kidney disease" @en
rdfs:label - "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200368
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200152
+ skos:altLabel + "ADPKD" + @en
+ skos:altLabel + "Autosomal dominant PKD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004691
skos:prefLabel - "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
- - + + + + + - + + + + + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100057 +
http://nanbyodata.jp/ontology/NANDO_2200154 (rdf:type owl:Class @@ -80533,46 +125978,79 @@

hasNotificationNumber8
dcterms:identifier2100057NANDO:2200154
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_038_01.pdf
rdfs:label - "Dilated cardiomyopathy" + "Autosomal recessive polycystic kidney disease" @en
rdfs:label - "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00294http://nanbyodata.jp/ontology/NANDO_1200369
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200152
+ skos:altLabel + "ARPKD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009889
skos:prefLabel - "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100058 +
http://nanbyodata.jp/ontology/NANDO_2200155 (rdf:type owl:Class @@ -80580,41 +126058,74 @@

hasNotificationNumber10
+ dcterms:description + "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚" + @ja
dcterms:identifier2100058NANDO:2200155
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_039_01.pdf
rdfs:label - "Restricted cardiomyopathy" + "Hypoplastic kidney" @en
rdfs:label - "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ใฆใ„ใ‘ใ„ใ›ใ„ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ไฝŽๅฝขๆˆ่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100024
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019637
skos:prefLabel - "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "ไฝŽๅฝขๆˆ่…Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100059 +
http://nanbyodata.jp/ontology/NANDO_2200156 (rdf:type owl:Class @@ -80622,41 +126133,74 @@

hasNotificationNumber7
+ dcterms:description + "่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใฎไฝ•ใ‚‰ใ‹ใฎ่ฆๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŒไธ€ๅดใพใŸใฏไธกๅดใฎ่…Ž็ต„็น”ใ‚’่ชใ‚ใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚็‰‡ๅด็„กๅฝขๆˆใฏใŠใ‚ˆใๅ‡บ็”Ÿ1000ใซๅฏพใ—ไธ€ไบบใฎๅ‰ฒๅˆใงใ€ๆฐ—ใฅใ‹ใšใซๅนผใƒปๅฐ‘ๅ…ๆœŸใ€ใ•ใ‚‰ใซๆˆไบบใซใชใฃใฆใ‚‚็Ÿฅใ‚‰ใšใซ้Žใ”ใ™ใ“ใจใ‚‚ใ‚ใ‚‹." + @ja
dcterms:identifier2100059NANDO:2200156
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_038_01.pdf
rdfs:label - "Aneurysm of ventricle" + "Renal aplasia" @en
rdfs:label - "ๅฟƒๅฎค็˜ค" + "ใ˜ใ‚“ใ‚€ใ‘ใ„ใ›ใ„" + @ja-Hira
+ rdfs:label + "่…Ž็„กๅฝขๆˆ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100024
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018470
skos:prefLabel - "ๅฟƒๅฎค็˜ค" + "่…Ž็„กๅฝขๆˆ" @ja
- - + + + + + + + + + - + + + + + + + + + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#2100060 +
http://nanbyodata.jp/ontology/NANDO_2200157 (rdf:type owl:Class @@ -80664,83 +126208,93 @@

hasNotificationNumber5
+ dcterms:description + "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚" + @ja
dcterms:identifier2100060NANDO:2200157
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label - "Endocardial fibroelastosis" + "Potter syndrome" @en
rdfs:label - "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" + "ใฝใฃใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042 + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01728
- skos:prefLabel - "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_039/
- - - - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2100061 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100061 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100024
- rdfs:label + skos:altLabel - "Cardiac tumor" + "Potter sequence" @en
- rdfs:label + skos:altLabel - "ๅฟƒ่‡“่…ซ็˜" + "Potter็—‡ๅ€™็พค" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001558
skos:prefLabel - "ๅฟƒ่‡“่…ซ็˜" + "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100062 +
http://nanbyodata.jp/ontology/NANDO_2200158 (rdf:type owl:Class @@ -80748,41 +126302,81 @@

hasNotificationNumber5
+ dcterms:description + "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž(multicystic dysplastic kidney๏ผšMCDK)ใฏ๏ผŒๅšข่ƒžๅฝขๆˆใ‚’ไธปไฝ“ใจใ™ใ‚‹็•ฐๅฝขๆˆ่…Žใงใ‚ใ‚‹ใ€‚็•ฐๅฝขๆˆ่…Žใจใฏ๏ผŒๅพŒ่…Ž้–“่‘‰็ต„็น”ใ‚„ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅŒ–ใŒ็•ฐๅธธใงไธๅฎŒๅ…จใชใ‚‚ใฎใ‚’ๆŒ‡ใ—๏ผŒ็ทš็ถญ็ญ‹็ต„็น”ใŒprimitive duct (ๅŽŸๅง‹้›†ๅˆ็ฎก)ใ‚’ๅ–ใ‚Šๅทปใใจใ„ใ†๏ผŒ็‰นๅพด็š„ใช็ต„็น”ๅƒใซๅŸบใฅใ„ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚MCDKใงใฏ๏ผŒๅคงๅฐๆง˜ใ€…ใชๅšข่ƒžใŒๅคšๆ•ฐๅญ˜ๅœจใ—๏ผŒๅšข่ƒž้–“ใซ็•ฐๅฝขๆˆ็ต„็น”ใŒใ‚ใšใ‹ใซไป‹ๅœจใ™ใ‚‹ใฎใฟใง๏ผŒๅŸบๆœฌ็š„ใซ็„กๆฉŸ่ƒฝ่…Žใงใ‚ใ‚‹(1)ใ€‚ๆญฃๅธธใช่…Ž็›‚ใฏๅฝขๆˆใ•ใ‚Œใš๏ผŒๅฐฟ็ฎกใ‚‚่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‹้–‰ๅกžใ—ใฆใ„ใ‚‹ใ€‚ๅšข่ƒžใฏ่‡ช็„ถใซ้€€็ธฎใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้€šๅธธ็‰‡ๅดๆ€งใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใŒ๏ผŒไธกๅดๆ€งใซใ‚‚็”Ÿใ˜๏ผŒใใฎๅ ดๅˆPotter็—‡ๅ€™็พคใจใชใ‚Š่‡ดๆญป็š„ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ใ‚จใ‚ณใƒผใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ไพ‹ใŒๅคšใ๏ผŒ้ ปๅบฆใฏๅ‡บ็”Ÿ4300ไพ‹ใซ1ไพ‹ใจๅ…ˆๅคฉๆ€ง่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใฎไธญใงใฏ้ ปๅบฆใŒ้ซ˜ใ„(2)ใ€‚ๅทฆๅดใซๅคšใ๏ผŒ็”ทๅ…ใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๅคงใใชๅทฎใฏใชใ„ใ€‚" + @ja
dcterms:identifier2100062NANDO:2200158
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label - "Chronic myocarditis" + "Multicystic dysplastic kidney" @en
rdfs:label - "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" + "ใŸใฎใ†ใปใ†ใ›ใ„ใ„ใ‘ใ„ใ›ใ„ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100024
+ skos:altLabel + "MCDK" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015988
skos:prefLabel - "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" + "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100063 +
http://nanbyodata.jp/ontology/NANDO_2200159 (rdf:type owl:Class @@ -80790,41 +126384,74 @@

hasNotificationNumber5
+ dcterms:description + "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚" + @ja
dcterms:identifier2100063NANDO:2200159
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label - "Chronic pericarditis" + "Oligomeganephronia" @en
rdfs:label - "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" + "ใ‹ใใ‚‡ใ ใ„ใ—ใใ‚…ใ†ใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100024
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016407
skos:prefLabel - "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" + "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡" @ja
- - + + + + + + + + + - + + + + + + "36ใ‹ใ‚‰41ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚“ใใ‘ใ„" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100064 +
http://nanbyodata.jp/ontology/NANDO_2200160 (rdf:type owl:Class @@ -80832,41 +126459,69 @@

hasNotificationNumber11
+ dcterms:description + "่…Žๅฅ‡ๅฝขใฏ้บไผๆ€ง๏ผŒ้ž้บไผๆ€งใซ่…Žใฎ็™บ็”Ÿๆฎต้šŽใง็”Ÿใ˜ใ‚‹็•ฐๅธธใงใ‚ใ‚Šไปฅไธ‹ใฎใ‚ˆใ†ใชใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100064NANDO:2200160
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Constrictive pericarditis" - @en
rdfs:label - "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" + "36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข" @ja
+ rdfs:label + "Other renal malformations" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100024
skos:prefLabel - "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" + "36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100065 +
http://nanbyodata.jp/ontology/NANDO_2200161 (rdf:type owl:Class @@ -80874,41 +126529,67 @@

hasNotificationNumber11
dcterms:identifier2100065NANDO:2200161
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Congenital defect of the pericardium" + "renal dysplasia" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" + "ใ˜ใ‚“ใ„ใ‘ใ„ใ›ใ„" + @ja-Hira
+ rdfs:label + "่…Ž็•ฐๅฝขๆˆ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019638
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" + "่…Ž็•ฐๅฝขๆˆ" @ja
- - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100066 +
http://nanbyodata.jp/ontology/NANDO_2200162 (rdf:type owl:Class @@ -80916,41 +126597,62 @@

hasNotificationNumber11
dcterms:identifier2100066NANDO:2200162
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants" + "Supernumerary kidney" @en
rdfs:label - "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" + "ใ‹ใ˜ใ‚‡ใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "้Žๅ‰ฐ่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
skos:prefLabel - "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" + "้Žๅ‰ฐ่…Ž" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100067 +
http://nanbyodata.jp/ontology/NANDO_2200163 (rdf:type owl:Class @@ -80958,41 +126660,69 @@

hasNotificationNumber11
dcterms:identifier2100067NANDO:2200163
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Abnormal origin of coronary artery from pulmonary artery" + "Pelvic kidney" @en
rdfs:label - "ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" + "ใ“ใคใฐใ‚“ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "้ชจ็›ค่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "Ectopic pelvic kidney" + @en
skos:prefLabel - "ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" + "้ชจ็›ค่…Ž" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100068 +
http://nanbyodata.jp/ontology/NANDO_2200164 (rdf:type owl:Class @@ -81000,41 +126730,76 @@

hasNotificationNumber11
dcterms:identifier2100068NANDO:2200164
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Coronary aneurysms complicated with kawasaki disease" + "crossed renal ectopia" @en
rdfs:label - "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" + "ใ“ใ†ใ•ใ›ใ„ใธใ‚“ใ„ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ไบคๅทฎๆ€งๅค‰ไฝ่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "crossed renal ectopia without fusion" + @en
+ skos:altLabel + "้ž่žๅˆๆ€งไบคๅ‰ๆ€ง่…Žๅค‰ไฝ" + @ja
skos:prefLabel - "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" + "ไบคๅทฎๆ€งๅค‰ไฝ่…Ž" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100069 +
http://nanbyodata.jp/ontology/NANDO_2200165 (rdf:type owl:Class @@ -81042,41 +126807,69 @@

hasNotificationNumber11
dcterms:identifier2100069NANDO:2200165
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Stenosis or atresia of coronary artery" + "lumber ectopic kidney" @en
rdfs:label - "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + "ใ‚ˆใ†ใถใธใ‚“ใ„ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "่…ฐ้ƒจๅค‰ไฝ่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "lumber kidney" + @en
skos:prefLabel - "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + "่…ฐ้ƒจๅค‰ไฝ่…Ž" @ja
- - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100070 +
http://nanbyodata.jp/ontology/NANDO_2200166 (rdf:type owl:Class @@ -81084,41 +126877,62 @@

hasNotificationNumber11
dcterms:identifier2100070NANDO:2200166
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Ischemic heart disease" + "Throacic kidney" @en
rdfs:label - "่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ" + "ใใ‚‡ใ†ใถใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "่ƒธ้ƒจ่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
skos:prefLabel - "่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ" + "่ƒธ้ƒจ่…Ž" @ja
- - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100071 +
http://nanbyodata.jp/ontology/NANDO_2200167 (rdf:type owl:Class @@ -81126,46 +126940,62 @@

hasNotificationNumber11
dcterms:identifier2100071NANDO:2200167
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Hypoplastic left heart syndrome" + "crossed fused kidney" @en
rdfs:label - "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" + "ใ“ใ†ใ•ใ›ใ„ใ‚†ใ†ใ”ใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "ไบคๅทฎๆ€ง่žๅˆ่…Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01272https://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
skos:prefLabel - "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" + "ไบคๅทฎๆ€ง่žๅˆ่…Ž" @ja
- - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100072 +
http://nanbyodata.jp/ontology/NANDO_2200168 (rdf:type owl:Class @@ -81173,46 +127003,62 @@

hasNotificationNumber11
dcterms:identifier2100072NANDO:2200168
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Single ventricle" + "Fused pelvic kidney" @en
rdfs:label - "ๅ˜ๅฟƒๅฎค็—‡" + "ใ“ใคใฐใ‚“ใถใ‚†ใ†ใ”ใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "้ชจ็›ค้ƒจ่žๅˆ่…Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01787https://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
skos:prefLabel - "ๅ˜ๅฟƒๅฎค็—‡" + "้ชจ็›ค้ƒจ่žๅˆ่…Ž" @ja
- - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100073 +
http://nanbyodata.jp/ontology/NANDO_2200169 (rdf:type owl:Class @@ -81220,46 +127066,62 @@

hasNotificationNumber11
dcterms:identifier2100073NANDO:2200169
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Tricuspid atresia" + "horseshoe kidney" @en
rdfs:label - "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" + "ใฐใฆใ„ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "้ฆฌ่น„่…Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01785https://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
skos:prefLabel - "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" + "้ฆฌ่น„่…Ž" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100074 +
http://nanbyodata.jp/ontology/NANDO_2200170 (rdf:type owl:Class @@ -81267,41 +127129,74 @@

hasNotificationNumber11
dcterms:identifier2100074NANDO:2200170
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Pulmonary atresia" + "medullary cystic kidney" @en
rdfs:label - "่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ " + "ใšใ„ใ—ใคใฎใ†ใปใ†ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "้ซ„่ณชๅšข่ƒž่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "้ซ„่ณชๆ€งๅšข่ƒž่…Ž" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019005
skos:prefLabel - "่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ " + "้ซ„่ณชๅšข่ƒž่…Ž" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100075 +
http://nanbyodata.jp/ontology/NANDO_2200171 (rdf:type owl:Class @@ -81309,41 +127204,74 @@

hasNotificationNumber11
dcterms:identifier2100075NANDO:2200171
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Tetralogy of Fallot" + "multilocular cysts of the kidney" @en
rdfs:label - "ใƒ•ใ‚กใƒญใƒผ๏ผˆFallot๏ผ‰ๅ››ๅพด็—‡" + "ใŸใผใ†ใ›ใ„ใ˜ใ‚“ใฎใ†ใปใ†" + @ja-Hira
+ rdfs:label + "ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "multilocular renal cyst" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019983
skos:prefLabel - "ใƒ•ใ‚กใƒญใƒผ๏ผˆFallot๏ผ‰ๅ››ๅพด็—‡" + "ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž" @ja
- - + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100076 +
http://nanbyodata.jp/ontology/NANDO_2200172 (rdf:type owl:Class @@ -81351,46 +127279,67 @@

hasNotificationNumber11
dcterms:identifier2100076NANDO:2200172
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Double-outlet right ventricle" + "simple renal cyst" @en
rdfs:label - "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" + "ใŸใ‚“ใ˜ใ‚…ใ‚“ใ›ใ„ใ˜ใ‚“ใฎใ†ใปใ†" + @ja-Hira
+ rdfs:label + "ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00918https://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002473
skos:prefLabel - "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" + "ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž" @ja
- - + + + + + - + + + + + + + + + - - + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100077 +
http://nanbyodata.jp/ontology/NANDO_2200173 (rdf:type owl:Class @@ -81398,41 +127347,74 @@

hasNotificationNumber11
dcterms:identifier2100077NANDO:2200173
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Double-outlet left ventricle" + "Medullary Sponge Kidney" @en
rdfs:label - "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" + "ใšใ„ใ—ใคใ‹ใ„ใ‚ใ‚“ใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "้ซ„่ณชๆตท็ถฟ่…Ž" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "MSK" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015268
skos:prefLabel - "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" + "้ซ„่ณชๆตท็ถฟ่…Ž" @ja
- - + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100078 +
http://nanbyodata.jp/ontology/NANDO_2200174 (rdf:type owl:Class @@ -81440,46 +127422,69 @@

hasNotificationNumber11
dcterms:identifier2100078NANDO:2200174
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Complete transposition of the great arteries" + "acquired cystic disease of the kidney" @en
rdfs:label - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ“ใ†ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ˜ใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00550https://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "ๅคšๅšข่ƒžๅŒ–่Ž็ธฎ่…Ž " + @ja
skos:prefLabel - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" + "ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ" @ja
- - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100079 +
http://nanbyodata.jp/ontology/NANDO_2200175 (rdf:type owl:Class @@ -81487,41 +127492,62 @@

hasNotificationNumber11
dcterms:identifier2100079NANDO:2200175
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Congenitally corrected transposition of the great arteries" + "calyceal diverticulum" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ˜ใ‚“ใฑใ„ใ‘ใ„ใ—ใค" + @ja-Hira
+ rdfs:label + "่…Žๆฏๆ†ฉๅฎค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
skos:prefLabel - "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + "่…Žๆฏๆ†ฉๅฎค" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100080 +
http://nanbyodata.jp/ontology/NANDO_2200176 (rdf:type owl:Class @@ -81529,41 +127555,81 @@

hasNotificationNumber11
dcterms:identifier2100080NANDO:2200176
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Ebsteinโ€™s anomaly" + "ureteropelvic junction obstruction" @en
rdfs:label - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEbstein๏ผ‰็—…" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ™ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + " congenital hydronephrosis" + @en
+ skos:altLabel + "่…Ž็›‚ๅฐฟ็ฎก็งป่กŒ้ƒจ้€š้Ž้šœๅฎณ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007741
skos:prefLabel - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEbstein๏ผ‰็—…" + "ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡" @ja
- - + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100081 +
http://nanbyodata.jp/ontology/NANDO_2200177 (rdf:type owl:Class @@ -81571,46 +127637,74 @@

hasNotificationNumber11
dcterms:identifier2100081NANDO:2200177
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label - "Truncus arteriosus communis" + "megacalycosis" @en
rdfs:label - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" + "ใใ‚‡ใ ใ„ใ˜ใ‚“ใฑใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทจๅคง่…Žๆฏ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01736https://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200160
+ skos:altLabel + "ๅทจๅคง่…Žๆฏ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019639
skos:prefLabel - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" + "ๅทจๅคง่…Žๆฏ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100082 +
http://nanbyodata.jp/ontology/NANDO_2200178 (rdf:type owl:Class @@ -81618,41 +127712,74 @@

hasNotificationNumber17
+ dcterms:description + "ๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๅฐฟ่ทฏ้€š้Ž้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹่…ŽๆฉŸ่ƒฝ้šœๅฎณใ‚’้–‰ๅกžๆ€ง่…Ž็—‡ใจใ„ใ„๏ผŒ้–‰ๅกžๆ€ง่…Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹ไธŠ้ƒจใƒปไธ‹้ƒจๅฐฟ่ทฏใฎ็•ฐๅธธใ‚’้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃใจๅฎš็พฉใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100082NANDO:2200178
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_043_01.pdf
rdfs:label - "Aorto-pulmonary window" + "Obstructive uropathy" @en
rdfs:label - "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ " + "ใธใ„ใใใ›ใ„ใซใ‚‡ใ†ใ‚ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100025
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003330
skos:prefLabel - "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ " + "้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100083 +
http://nanbyodata.jp/ontology/NANDO_2200179 (rdf:type owl:Class @@ -81660,41 +127787,86 @@

hasNotificationNumber18
+ dcterms:description + "่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚" + @ja
dcterms:identifier2100083NANDO:2200179
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf
rdfs:label - "Cor triatriatum" + "Vesicoureteral reflux" @en
rdfs:label - "ไธ‰ๅฟƒๆˆฟๅฟƒ" + "ใผใ†ใ“ใ†ใซใ‚‡ใ†ใ‹ใ‚“ใŽใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "่†€่ƒฑๅฐฟ็ฎก้€†ๆต" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01037
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100025
+ skos:altLabel + "VUR" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006007
skos:prefLabel - "ไธ‰ๅฟƒๆˆฟๅฟƒ" + "่†€่ƒฑๅฐฟ็ฎก้€†ๆต" @ja
- - + + + + + + + + + - + + + + + + "43ใŠใ‚ˆใณ44ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใซใ‚‡ใ†ใ‚ใใ‘ใ„" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100084 +
http://nanbyodata.jp/ontology/NANDO_2200180 (rdf:type owl:Class @@ -81702,46 +127874,69 @@

hasNotificationNumber18
+ dcterms:description + "ๅฐฟ่ทฏๅฅ‡ๅฝขใฏ๏ผŒ็™บ็”Ÿใฎๆฎต้šŽใง็”Ÿใ˜ใ‚‹ๅฝขๆ…‹๏ผŒไฝ็ฝฎ๏ผŒๆ•ฐใฎ็•ฐๅธธใŒใ‚ใ‚Š๏ผŒไปฅไธ‹ใฎใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚1)ใ€€้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก2)ใ€€็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก3)ใ€€ๅฐฟ็ฎก็˜ค4)ใ€€ๅทจๅคงๅฐฟ็ฎก็—‡5)ใ€€Prune belly็—‡ๅ€™็พค" + @ja
dcterms:identifier2100084NANDO:2200180
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf
rdfs:label - "Patent ductus arteriosus" - @en
rdfs:label - "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" + "43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข" @ja
+ rdfs:label + "Other urinary tract malformations" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01630https://www.shouman.jp/disease/details/02_17_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100025
skos:prefLabel - "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" + "43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100085 +
http://nanbyodata.jp/ontology/NANDO_2200181 (rdf:type owl:Class @@ -81749,41 +127944,69 @@

hasNotificationNumber18
dcterms:identifier2100085NANDO:2200181
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf
rdfs:label - "Atrial septal defect" + "duplication of the renal pelvis and ureter" @en
rdfs:label - "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + "ใ˜ใ‚…ใ†ใตใใ˜ใ‚“ใ†ใซใ‚‡ใ†ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200180
+ skos:altLabel + "Duplex Collecting System" + @en
skos:prefLabel - "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + "้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100086 +
http://nanbyodata.jp/ontology/NANDO_2200182 (rdf:type owl:Class @@ -81791,41 +128014,76 @@

hasNotificationNumber18
dcterms:identifier2100086NANDO:2200182
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf
rdfs:label - "Complete atrioventricular septal defect" + "ectopic ureteral orifice" @en
rdfs:label - "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + "ใ„ใ—ใ‚‡ใ‹ใ„ใ“ใ†ใซใ‚‡ใ†ใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200180
+ skos:altLabel + "ectopic ureter" + @en
+ skos:altLabel + "ๅฐฟ็ฎก็•ฐๆ‰€้–‹ๅฃ" + @ja
skos:prefLabel - "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + "็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก" @ja
- - + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100087 +
http://nanbyodata.jp/ontology/NANDO_2200183 (rdf:type owl:Class @@ -81833,46 +128091,72 @@

hasNotificationNumber18
dcterms:identifier2100087NANDO:2200183
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf
rdfs:label - "Ventricular septal defect" + "ureteroceles" @en
rdfs:label - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" + "ใซใ‚‡ใ†ใ‹ใ‚“ใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅฐฟ็ฎก็˜ค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01926http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1601
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200180
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008628
skos:prefLabel - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" + "ๅฐฟ็ฎก็˜ค" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100088 +
http://nanbyodata.jp/ontology/NANDO_2200184 (rdf:type owl:Class @@ -81880,41 +128164,67 @@

hasNotificationNumber18
dcterms:identifier2100088NANDO:2200184
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf
rdfs:label - "Total anomalous pulmonary venous connection" + "Megaureter" @en
rdfs:label - "่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + "ใใ‚‡ใ ใ„ใซใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทจๅคงๅฐฟ็ฎก็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200180
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018960
skos:prefLabel - "่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + "ๅทจๅคงๅฐฟ็ฎก็—‡" @ja
- - + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100089 +
http://nanbyodata.jp/ontology/NANDO_2200185 (rdf:type owl:Class @@ -81922,41 +128232,72 @@

hasNotificationNumber18
dcterms:identifier2100089NANDO:2200185
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf
rdfs:label - "Pulmonary venous obstruction" + "Prune belly syndrome" @en
rdfs:label - "่‚บ้™่„ˆ็‹ญ็ช„็—‡" + "Prune belly็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใทใ‚‹ใƒผใ‚“ในใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200180
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007032
skos:prefLabel - "่‚บ้™่„ˆ็‹ญ็ช„็—‡" + "Prune belly็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100090 +
http://nanbyodata.jp/ontology/NANDO_2200186 (rdf:type owl:Class @@ -81964,41 +128305,69 @@

hasNotificationNumber2
+ dcterms:description + "่…Ž่‡“ใŒๆญฃๅธธๆ™‚ใฎๅŠๅˆ†่ฟ‘ใใซ็ธฎๅฐใ—๏ผŒๆฉŸ่ƒฝไธๅ…จใซ้™ฅใฃใŸ็Šถๆ…‹ใ‚’่จ€ใ†ใ€‚ๅคšใใฎ่…Ž็–พๆ‚ฃใฎ็ต‚ๅฑ€ๅƒใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100090NANDO:2200186
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_18_046_01.pdf
rdfs:label - "Left ventricular-right atrial communication" + "Atrophic kidney" @en
rdfs:label - "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" + "ใ„ใ—ใ‚…ใใ˜ใ‚“" + @ja-Hira
+ rdfs:label + "่Ž็ธฎ่…Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_18_046/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100026
skos:prefLabel - "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" + "่Ž็ธฎ่…Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100091 +
http://nanbyodata.jp/ontology/NANDO_2200187 (rdf:type owl:Class @@ -82006,41 +128375,81 @@

hasNotificationNumber28
+ dcterms:description + "Fanconi็—‡ๅ€™็พคใฏ๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใฎๅ…จ่ˆฌๆ€งๆบถ่ณช่ผธ้€ๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒๆœฌๆฅ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงๅ†ๅธๅŽใ•ใ‚Œใ‚‹็‰ฉ่ณชใŒๅฐฟไธญใธใฎ้Žๅบฆใฎๅ–ชๅคฑใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธ๏ผŒใƒ–ใƒ‰ใ‚ฆ็ณ–๏ผŒ้‡็‚ญ้…ธ็„กๆฉŸใƒชใƒณใชใฉใฎๆบถ่ณชๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใใฎ็ตๆžœใจใ—ใฆไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผŒ้›ป่งฃ่ณช็•ฐๅธธ๏ผŒ่„ฑๆฐด๏ผŒ็™บ้”้šœๅฎณ๏ผŒใใ‚‹็—…ใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100091NANDO:2200187
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_19_047_01.pdf
rdfs:label - "Double-chambered right ventricle" + "Fanconi syndrome" @en
rdfs:label - "ๅณๅฎคไบŒ่…”็—‡" + "ใตใใ‚“ใ“ใƒผใซใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_19_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100027
+ skos:altLabel + "Fanconi็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001083
skos:prefLabel - "ๅณๅฎคไบŒ่…”็—‡" + "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100092 +
http://nanbyodata.jp/ontology/NANDO_2200188 (rdf:type owl:Class @@ -82048,41 +128457,98 @@

hasNotificationNumber48
+ dcterms:description + "ๆœฌ็—‡ใฏ็œผ็—‡็Šถ๏ผŒไธญๆžข็ฅž็ตŒ็—‡็Šถ๏ผŒ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธปๅพดใจใ—๏ผŒ1952ๅนดใซLoweใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚่ฟ‘ๅนดใฏ๏ผŒoculocerebrorenal syndrome of Lowe (OCRL)ใ€€(MIM309000)ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็”ทๅ…10ไธ‡ไบบใซๆ•ฐไบบใฎ็™บ็—‡ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๆญฃ็ขบใช็™บ็—‡้ ปๅบฆใ‚„ๆ‚ฃ่€…ๆ•ฐใฏไธๆ˜Žใงใ‚ใ‚‹(2)ใ€‚1982ๅนดใฎๆˆ‘ใŒๅ›ฝใฎๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(RTA)ใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ๏ผŒRTAใฎ็ด„1/3ใŒๆœฌ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ(3)ใ€‚ใพใŸ๏ผŒใพใ‚Œใงใฏใ‚ใ‚‹ใŒ๏ผŒXๆŸ“่‰ฒไฝ“ใจๅธธๆŸ“่‰ฒไฝ“ใฎ้–“ใซใŠใ‘ใ‚‹ๅ‡่กก่ปขๅบงใซใ‚ˆใ‚‹่ปฝ็—‡ๅฅณๅ…ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŸใ‚๏ผŒๅฅณๅ…ใงใ‚ใฃใฆใ‚‚ๆœฌ็—‡ใ‚’้™คๅค–ใ™ในใใงใฏใชใ„ใ€‚" + @ja
dcterms:identifier2100092NANDO:2200188
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf
rdfs:label - "Subvalvular pulmonary stenosis" + "Lowe syndrome" @en
rdfs:label - "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "ใ‚ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒญใ‚ฆ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3469
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00692
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_20_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100028
+ skos:altLabel + "Lowe็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "oculocerebrorenal syndrome of Lowe" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010645
skos:prefLabel - "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "ใƒญใ‚ฆ็—‡ๅ€™็พค" @ja
- - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100093 +
http://nanbyodata.jp/ontology/NANDO_2200189 (rdf:type owl:Class @@ -82090,41 +128556,62 @@

hasNotificationNumber6
dcterms:identifier2100093NANDO:2200189
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "Subvalvular aortic stenosis" + "airway obstruction and stenosis" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "ใใฉใ†ใใ‚‡ใ†ใ•ใ" + @ja-Hira
+ rdfs:label + "ๆฐ—้“็‹ญ็ช„" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100030
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "ๆฐ—้“็‹ญ็ช„" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100094 +
http://nanbyodata.jp/ontology/NANDO_2200190 (rdf:type owl:Class @@ -82132,41 +128619,74 @@

hasNotificationNumber6
+ dcterms:description + "ๅ’ฝ้ ญ็‹ญ็ช„ใฏใ€ๅ’ฝ้ ญ่…”ใŒๅŒๅนด้ฝขใฎๆญฃๅธธๅ…ใซๆฏ”ในใฆๆ˜Žใ‚‰ใ‹ใซ็‹ญใใ€ใ‹ใคใใ‚Œใซ่ตทๅ› ใ™ใ‚‹็—‡็Šถใ‚’ๆœ‰ใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚็‹ญ็ช„ใซใฏๅ›บๅฎšๆ€งใฎใ‚‚ใฎใจๅค‰ๅ‹•ๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100094NANDO:2200190
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "Supravalvular pulmonary stenosis" + "laryngeal stenosis" @en
rdfs:label - "่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" + "ใ“ใ†ใจใ†ใใ‚‡ใ†ใ•ใ" + @ja-Hira
+ rdfs:label + "ๅ–‰้ ญ็‹ญ็ช„" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200189
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015395
skos:prefLabel - "่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" + "ๅ–‰้ ญ็‹ญ็ช„" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100095 +
http://nanbyodata.jp/ontology/NANDO_2200191 (rdf:type owl:Class @@ -82174,41 +128694,69 @@

hasNotificationNumber6
+ dcterms:description + "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚" + @ja
dcterms:identifier2100095NANDO:2200191
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "Absent pulmonary valve" + "supraglottic stenosis" @en
rdfs:label - "่‚บๅ‹•่„ˆๅผๆฌ ๆ" + "ใ›ใ„ใ‚‚ใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200189
skos:prefLabel - "่‚บๅ‹•่„ˆๅผๆฌ ๆ" + "ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100096 +
http://nanbyodata.jp/ontology/NANDO_2200192 (rdf:type owl:Class @@ -82216,41 +128764,69 @@

hasNotificationNumber6
+ dcterms:description + "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚" + @ja
dcterms:identifier2100096NANDO:2200192
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "Origin of pulmonary artery from ascending aorta" + "glottic stenosis" @en
rdfs:label - "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" + "ใ›ใ„ใ‚‚ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฃฐ้–€็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200189
skos:prefLabel - "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" + "ๅฃฐ้–€็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100097 +
http://nanbyodata.jp/ontology/NANDO_2200193 (rdf:type owl:Class @@ -82258,41 +128834,74 @@

hasNotificationNumber6
+ dcterms:description + "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚" + @ja
dcterms:identifier2100097NANDO:2200193
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "Unilateral absence of a pulmonary artery" + "subglottic stenosis" @en
rdfs:label - "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" + "ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200189
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015395
skos:prefLabel - "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" + "ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100098 +
http://nanbyodata.jp/ontology/NANDO_2200194 (rdf:type owl:Class @@ -82300,41 +128909,74 @@

hasNotificationNumber6
+ dcterms:description + "ๅฐๅ…ใฎๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅฃฐ้–€๏ผ‰ใจ็‹ญ็พฉใฎๆฐ—้“๏ผˆๅฃฐ้–€ไธ‹่…”ใ€ๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ—ๅค–็ง‘็š„ๆฒป็™‚ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏไธปใซ็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๆฐ—็ฎก็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใงใ‚ใ‚Šใ€ๅคšใใŒ็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใปใจใ‚“ใฉใŒๅ…ˆๅคฉๆ€งใฎ็‹ญ็ช„ใงใ‚ใ‚Šใ€ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎๅพŒๅคฉๆ€งใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ใพใ‚Œใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100098NANDO:2200194
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "Coarctation of the aorta" + "tracheal stenosis" @en
rdfs:label - "ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" + "ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใ" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎก็‹ญ็ช„" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200189
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002568
skos:prefLabel - "ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" + "ๆฐ—็ฎก็‹ญ็ช„" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100099 +
http://nanbyodata.jp/ontology/NANDO_2200195 (rdf:type owl:Class @@ -82342,41 +128984,81 @@

hasNotificationNumber6
+ dcterms:description + "ๆฐ—็ฎก่ปŸๅŒ–็—‡ใฏๆฐ—็ฎกใ‚„ๆฐ—็ฎกๆ”ฏใฎๅ†…่…”ใŒไฟใŸใ‚Œใšใ€่™š่„ฑ๏ผˆๆ‰ๅนณๅŒ–๏ผ‰ใ—ใ€้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100099NANDO:2200195
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "Aortic arch occlusive disease" + "tracheomalacia" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" + "ใใ‹ใ‚“ใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎก่ปŸๅŒ–็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200196
+ skos:altLabel + "tracheobronchial malacia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019804
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" + "ๆฐ—็ฎก่ปŸๅŒ–็—‡" @ja
- - + - + + + + + - - + + + + + +
http://nanbyodata.jp/ontology/nando#2100100 +
http://nanbyodata.jp/ontology/NANDO_2200196 (rdf:type owl:Class @@ -82386,39 +129068,55 @@

dcterms:identifier2100100NANDO:2200196
rdfs:label - "Vascular ring" + "obsolete bronchial stenosis and bronchomalacia" @en
rdfs:label - "่ก€็ฎก่ผช" + "obsolete ใใ‹ใ‚“ใ—ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†ใƒปใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "obsolete ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042 + rdfs:subClassofhttp://nanbyodata.jp/ontology/NANDO_0000002
+ owl:deprecated + "true" + + xsd:boolean +
skos:prefLabel - "่ก€็ฎก่ผช" + "obsolete ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100101 +
http://nanbyodata.jp/ontology/NANDO_2200197 (rdf:type owl:Class @@ -82426,41 +129124,69 @@

hasNotificationNumber5
+ dcterms:description + "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใฏใ€็™บไฝœๆ€งใซ่ตทใ“ใ‚‹ๆฐ—้“็‹ญ็ช„ใซใ‚ˆใฃใฆๅ–˜้ณดใ‚„ๅ‘ผๆฐ—ๅปถ้•ทใ€ๅ‘ผๅธๅ›ฐ้›ฃใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใฏ่‡ช็„ถใชใ„ใ—ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ€ๆถˆๅคฑใ™ใ‚‹ใŒใ€ใ”ใ็จ€ใซใฏ่‡ดๆญป็š„ใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆฐ—้“็‹ญ็ช„ใฏใ€ๆฐ—้“ๅนณๆป‘็ญ‹ๅŽ็ธฎใ€ๆฐ—้“็ฒ˜่†œๆตฎ่…ซใ€ๆฐ—้“ๅˆ†ๆณŒไบข้€ฒใ‚’ไธปใชๆˆๅ› ใจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏใ€ๆ…ขๆ€งใฎๆฐ—้“็‚Ž็—‡ใจๆฐ—้“้Žๆ•ๆ€งใงใ‚ใ‚‹ใŒใ€ๆฐ—้“็‚Ž็—‡ใซใฏๅฅฝ้…ธ็ƒใ€ๅฅฝไธญ็ƒใ€ใƒชใƒณใƒ‘็ƒใ€ใƒžใ‚นใƒˆ็ดฐ่ƒžใชใฉใฎ็‚Ž็—‡็ดฐ่ƒžใ€ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใ€็ทš็ถญ่Šฝ็ดฐ่ƒžใ€ๆฐ—้“ๅนณๆป‘็ญ‹ใชใฉใฎๆฐ—้“ๆง‹ๆˆ็ดฐ่ƒžใ€ใŠใ‚ˆใณ็จฎใ€…ใฎๆถฒๆ€งๅ› ๅญใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚‹ๆฐ—้“็‚Ž็—‡ใฏใ€ๆฐ—้“ๅ‚ทๅฎณใจใใ‚Œใซๅผ•ใ็ถšใๆฐ—้“ๆง‹้€ ใฎๅค‰ๅŒ–๏ผˆใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ๏ผ‰ใ‚’ๆƒน่ตทใ—ใฆ้žๅฏ้€†ๆ€งใฎๆฐ—ๆตๅˆถ้™ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€ๆฐ—้“้Žๆ•ๆ€งใ‚’ไบข้€ฒใ•ใ›ใ‚‹ใ€‚ไนณๅ…ๅ–˜ๆฏ๏ผˆ2ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹ๅ–˜ๆฏใจๅฎš็พฉ๏ผ‰ใฎ็—…ๆ…‹ใซใŠใ‘ใ‚‹็‰น็•ฐๆ€งใจใ—ใฆใฏใ€ๅ‘ผๅธๅ™จ็ณปใซใŠใ‘ใ‚‹่งฃๅ‰–ใƒป็”Ÿ็†ๅญฆ็š„็‰นๅพดใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไนณๅนผๅ…ใฏๅนด้•ทๅ…ใซๆฏ”ใ—ๆฐ—้“ๅ†…ๅพ„ใŒ็‹ญใใ€่‚บๅผพๆ€งๅŽ็ธฎๅŠ›ใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆฐ—็ฎกๆ”ฏๅนณๆป‘็ญ‹ใŒๅฐ‘ใชใใ€็ฒ˜ๆถฒๅˆ†ๆณŒ่…บใ‚„ๆฏ็ดฐ่ƒžใŒ้Žๅฝขๆˆใ‚’็คบใ—ใ€ๅดๅ‰ฏๆ›ๆฐ—ใŒๅฐ‘ใชใใ€ๆจช้š”่†œใŒๆฐดๅนณใซไป˜็€ใ—ใฆๅ‘ผๅธ้‹ๅ‹•ใŒๅฐใ•ใ„ใ“ใจใชใฉใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใŒ็”Ÿใ˜ใ‚„ใ™ใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชใ“ใจใ‹ใ‚‰ใ€2ๆญณๆœชๆบ€ใงใฏๅนด้•ทๅ…ใจๆฏ”่ผƒใ—ใฆๆฐ—้“็‹ญ็ช„ใŒๅผทใ็พใ‚Œใ‚„ใ™ใใ€็—‡็Šถใฎ้€ฒ่กŒใŒ้€Ÿใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100101NANDO:2200197
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_02_002_01.pdf
rdfs:label - "Aortic aneurysm" + "bronchial asthma" @en
rdfs:label - "ๅคงๅ‹•่„ˆ็˜ค" + "ใใ‹ใ‚“ใ—ใœใ‚“ใใ" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100031
skos:prefLabel - "ๅคงๅ‹•่„ˆ็˜ค" + "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100102 +
http://nanbyodata.jp/ontology/NANDO_2200198 (rdf:type owl:Class @@ -82468,41 +129194,91 @@

hasNotificationNumber8
+ dcterms:description + "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital Central Hypoventilation Syndrome: CCHS๏ผ‰ใฏใ€ๅ‘ผๅธไธญๆžขใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…ธๅž‹ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ—ไธปใซ็ก็œ ๆ™‚ใซใ€้‡็—‡ไพ‹ใงใฏ่ฆš้†’ๆ™‚ใซใ‚‚ไฝŽๆ›ๆฐ—ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅปถ้ซ„ใซใ‚ใ‚‹ๅ‘ผๅธไธญๆžขใฎๅŒ–ๅญฆๆ€ง่ชฟ็ฏ€ใฎ็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใซๅฏพใ—ใฆๆ›ๆฐ—ๅฟœ็ญ”ใŒ็”Ÿใ˜ใชใ„ใŸใ‚ไฝŽๆ›ๆฐ—ใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‘ผๅธไธญๆžขใฎ้šœๅฎณใซๅฏพใ™ใ‚‹ๆœ‰ๅŠนใชๆฒป็™‚ใฏใชใ„ใŸใ‚ใ€ไบบๅทฅๅ‘ผๅธ็ฎก็†ใŒๅฟ…้ ˆใงใ‚ใ‚Šใ€ใ„ใ‹ใซไฝŽๆ›ๆฐ—ใซใ‚ˆใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚’้˜ฒใใ‹ใŒ็ฎก็†ใฎไธŠใง้‡่ฆใงใ‚ใ‚‹ใ€‚CCHSใฏ1970ๅนดใซๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๆฏ”่ผƒ็š„ๆ–ฐใ—ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใŸใ‚ใซ็–พๆ‚ฃใฎๅ…จไฝ“ๅƒใซใคใ„ใฆใฏๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„็‚นใ‚‚ๅคšใ„ใ€‚2003ๅนดใซใฏCCHSใฎ็—…ๅ› ้บไผๅญใจใ—ใฆใ€่‡ชๅพ‹็ฅž็ตŒใฎๅˆ†ๅŒ–ใƒป่ช˜ๅฐŽใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹PHOX2B้บไผๅญใŒ็‰นๅฎšใ•ใ‚ŒใŸใ€‚ใ“ใฎ็™บ่ฆ‹ไปฅ้™ใ€CCHSใฎ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใจใ„ใ†ๅด้ขใซใ‚‚ๆณจ็›ฎใŒ้›†ใพใฃใฆใ„ใ‚‹ใ€‚ใพใŸ่ฟ‘ๅนดใงใฏใ€PHOX2Bใฎ้บไผๅญๅค‰็•ฐๅž‹ใจCCHSใฎ่‡จๅบŠ็—‡็Šถใซใฏ้–ข้€ฃใŒใ‚ใ‚‹ใ“ใจใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹late onsetๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใชใฉใ€็พๅœจใ‚‚ๅคšใใฎ็ ”็ฉถใŒ้€ฒ่กŒใ—ใฆใŠใ‚Š็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100102NANDO:2200198
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_03_003_01.pdf
rdfs:label - "Arteriovenous fistulae" + "congenital central hypoventilation syndrome" @en
rdfs:label - "ๅ‹•้™่„ˆ็˜ป" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200753
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1824
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_03_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100032
+ skos:altLabel + "CCHS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008852
skos:prefLabel - "ๅ‹•้™่„ˆ็˜ป" + "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100103 +
http://nanbyodata.jp/ontology/NANDO_2200199 (rdf:type owl:Class @@ -82510,46 +129286,86 @@

hasNotificationNumber2
+ dcterms:description + "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆidiopathic interstitial pneumonia, IIP๏ผ‰ใฏใ€ใŠใ‚‚ใซ่‚บใฎ้–“่ณชใซๆ…ขๆ€ง็š„ใช็‚Ž็—‡ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใฎใ†ใกใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100103NANDO:2200199
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_004_01.pdf
rdfs:label - "Idiopathic pulmonary arterial hypertension" + "idiopathic interstitial pneumonia" @en
rdfs:label - "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + "ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01621http://nanbyodata.jp/ontology/NANDO_1200416
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100033
+ skos:altLabel + "IIPs" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002429
skos:prefLabel - "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100104 +
http://nanbyodata.jp/ontology/NANDO_2200200 (rdf:type owl:Class @@ -82557,41 +129373,79 @@

hasNotificationNumber1
+ dcterms:description + "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ๏ผˆHereditary interstitial lung disease: HILD๏ผ‰ใฏใ€้บไผๅญๅค‰็•ฐใŒไธปๅ› ใจใชใฃใฆ่ตทใ“ใ‚‹็จ€ใช้–“่ณชๆ€ง่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจX็ทšๅ†™็œŸใ‚ใ‚‹ใ„ใฏCT็”ปๅƒไธŠใฎใณใพใ‚“ๆ€ง้–“่ณชๆ€ง้™ฐๅฝฑใจๅ‘ผๅธ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง้–“่ณชๆ€ง่‚บ็‚Žใ€ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ใŠใ‚ˆใณๅฐๅ…ๆœŸ็™บ็—‡ใฎ้–“่ณชๆ€ง่‚บ็‚Žใ‚’ไปฃ่กจใจใ™ใ‚‹้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใŒใ€ๆˆไบบใซใชใฃใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚่จบๆ–ญใฎ้š›ใซใฏใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ‚’ๅซใ‚€ๅฅ‡ๅฝข็—‡ๅ€™็พคใ€ๅ‘ผๅธๅ™จใฎๅฝขๆ…‹็•ฐๅธธใ€้ชจ็ณป็ตฑ็–พๆ‚ฃใ€็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ€้‡็—‡ๆ–ฐ็”Ÿๅ…ไปฎๆญปใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…้ทๅปถๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใ€ๆ—ฉ็”ฃใ‚„ๅญๅฎฎๅ†…็‚Ž็—‡ใซ่ตทๅ› ใ™ใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃใชใฉใฎ็–พๆ‚ฃใƒป็—…ๆ…‹ใ‚’้™คๅค–ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100104NANDO:2200200
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_005_01.pdf
rdfs:label - "Chronic cor pulmonale" + "Congenital alveolar proteinosis" @en
rdfs:label - "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200750
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100033
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012580
skos:prefLabel - "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" + "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100105 +
http://nanbyodata.jp/ontology/NANDO_2200201 (rdf:type owl:Class @@ -82599,41 +129453,69 @@

hasNotificationNumber1
dcterms:identifier2100105NANDO:2200201
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_005_01.pdf
rdfs:label - "Valvular heart disease" + "Hereditary interstitial lung disease" @en
rdfs:label - "ๅฟƒ่‡“ๅผ่†œ็—‡" + "ใ„ใงใ‚“ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2200200
+ skos:altLabel + "HILD" + @en
skos:prefLabel - "ๅฟƒ่‡“ๅผ่†œ็—‡" + "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100106 +
http://nanbyodata.jp/ontology/NANDO_2200202 (rdf:type owl:Class @@ -82641,41 +129523,91 @@

hasNotificationNumber3
+ dcterms:description + "่‚บ่ƒžๅ†…ใซใƒชใƒณ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚’ไธปๆˆๅˆ†ใจใ™ใ‚‹ๅพฎๅฐ็ต็ŸณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‘ผๅธ้šœๅฎณใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100106NANDO:2200202
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_006_01.pdf
rdfs:label - "Supramitral ring" + "pulmonary alveolar microlithiasis" @en
rdfs:label - "ๅƒงๅธฝๅผๅผไธŠ่ผช" + "ใฏใ„ใปใ†ใณใ›ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บ่ƒžๅพฎ็Ÿณ็—‡" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2915
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01298
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100033
+ skos:altLabel + "PAM" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009928
skos:prefLabel - "ๅƒงๅธฝๅผๅผไธŠ่ผช" + "่‚บ่ƒžๅพฎ็Ÿณ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100107 +
http://nanbyodata.jp/ontology/NANDO_2200203 (rdf:type owl:Class @@ -82683,41 +129615,74 @@

hasNotificationNumber10
+ dcterms:description + "ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใฎ่กจ้ขใซใฏๅคšๆ•ฐใฎ็ทšๆฏ›ใŒๅญ˜ๅœจใ—ใ€็ทšๆฏ›ใŒ้€ฃๅ‹•ใ—ใฆๅฃๅดใซๅ‘ใ‹ใฃใฆ้žญใ‚’ๆ‰“ใคใ‚ˆใ†ใซ้‹ๅ‹•ใ™ใ‚‹ใ“ใจใงใ€็ฒ˜ๆถฒๅฑคใฎๆตใ‚ŒใŒ็”Ÿใ˜ใ€ๅพฎ็ฒ’ๅญ็Šถใฎ็•ฐ็‰ฉใ€็ดฐ่Œใ€ๅ–€็—ฐใชใฉใ‚’ๆŽ’้™คใ—ใฆๆฐ—้“ๅ†…ใ‚’ๆธ…ๆต„ใซไฟใคใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ใ“ใฎ็ทšๆฏ›ใŒๆญฃๅธธใชๆง‹้€ ใจๆฉŸ่ƒฝใ‚’็™บๆฎใ™ใ‚‹ใŸใ‚ใซใฏใ€ๅคšๆ•ฐใฎ้บไผๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ทšๆฏ›้‹ๅ‹•ใŒ้šœๅฎณใ•ใ‚Œใ€ไธญ่€ณใ€่€ณ็ฎกใ€้ผปใ€ๅ‰ฏ้ผป่…”ใ€ๅ’ฝ้ ญใ‚’ๅซใ‚ใŸๅ‘ผๅธๅ™จ็ณปใฎๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๆ…ขๆ€งๅ‰ฏ้ผป่…”็‚Žใ‚„ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ‚’้ซ˜้ ปๅบฆใซๅˆไฝตใ™ใ‚‹ใ€‚ใ‹ใคใฆใฏ็ทšๆฏ›ไธๅ‹•็—‡ๅ€™็พคใจๅ‘ผใฐใ‚ŒใŸใŒใ€้‹ๅ‹•ใŒๅผฑใ„ใ‚‚ใฎใ‚„ๅ”่ชฟ้‹ๅ‹•ใŒไธๆƒใ„ใชใ‚‚ใฎใชใฉใ‚‚ไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๅœจใฎๅ‘ผ็งฐใซ่ฝใก็€ใ„ใŸใ€‚ใชใŠใ€ๆœฌ็—‡ใงใฏ่ƒŽๅ…ๆœŸใซๅทฆๅณใŒ้ฉๆญฃใซๅˆคๅˆฅใ•ใ‚Œใšใ€็ด„ๅŠๆ•ฐใงๅฎŒๅ…จๅ†…่‡“้€†ไฝใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚’Kartagener็—‡ๅ€™็พคใจๅ‘ผใถใŒใ€ๅ†…่‡“้€†ไฝใฎๆœ‰็„กใจ้‡็—‡ๅบฆใซใฏ้–ขไฟ‚ใŒใชใใ€ๆœฌๆ…‹ใฏๅŒใ˜ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100107NANDO:2200203
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_05_007_01.pdf
rdfs:label - "Hheterotaxy syndrome" + "primary ciliary dyskinesia" @en
rdfs:label - "ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค" + "ใ›ใ‚“ใ‚‚ใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_05_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042http://nanbyodata.jp/ontology/NANDO_2100034
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016575
skos:prefLabel - "ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค" + "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" @ja
- - + + + + + - + + + + + - - - - + "ใ‹ใ‚‹ใŸใ’ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - -
http://nanbyodata.jp/ontology/nando#2100108 +
http://nanbyodata.jp/ontology/NANDO_2200204 (rdf:type owl:Class @@ -82725,83 +129690,74 @@

hasNotificationNumber10
dcterms:identifier2100108NANDO:2200204
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_05_007_01.pdf
rdfs:label - "Post-Fontan syndrome" + "Kartagener syndrome" @en
rdfs:label - "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ๏ผˆFontan๏ผ‰่ก“ๅพŒ็—‡ๅ€™็พค" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100042
- skos:prefLabel + rdfs:label - "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ๏ผˆFontan๏ผ‰่ก“ๅพŒ็—‡ๅ€™็พค" + "ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค" @ja
- - - - - + + - - + + - + - - + +
http://nanbyodata.jp/ontology/nando#2100109 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100109 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_05_007/
- rdfs:label - "Endocrine disease" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200203
- rdfs:label + skos:altLabel - "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ" + "Kartagener็—‡ๅ€™็พค" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016575
skos:prefLabel - "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ" + "ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100110 +
http://nanbyodata.jp/ontology/NANDO_2200205 (rdf:type owl:Class @@ -82809,41 +129765,91 @@

hasNotificationNumber12
+ dcterms:description + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡(Cystic fibrosis: CF)ใฏใ€cystic fibrosis transmembrane conductance regulator (CFTR) ้บไผๅญใฎๅค‰็•ฐใŒๅŽŸๅ› ใจใชใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CFTRใฏๅ…จ่บซใฎไธŠ็šฎ่†œ็ดฐ่ƒžใซ็™บ็พใ™ใ‚‹ใ‚ฏใƒญใƒผใƒซใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚Šใ€ใ‚คใ‚ชใƒณใจๆฐดใฎ่ผธ้€ใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ€‚CFTRใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ“ใฎ่ชฟ็ฏ€ๆฉŸๆง‹ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒๆฉŸ่ƒฝใซ็•ฐๅธธใ‚’ใใŸใ™ใ€‚ๆถˆๅŒ–็ฎกใ‚„ๆฐ—้“ใฎๅˆ†ๆณŒๆถฒใŒ็ฒ˜็จ ใจใชใ‚Šใ€่†ตๅค–ๅˆ†ๆณŒ็•ฐๅธธใซใ‚ˆใ‚‹่„‚่‚ชๅธๅŽไธๅ…จใ€ๆ „้คŠ้šœๅฎณใŒ่ตทใ“ใ‚‹ใ€‚ๆฐ—้“ๅˆ†ๆณŒใฎ็•ฐๅธธใฏๆŽ’็—ฐๅ›ฐ้›ฃใƒป้›ฃๆฒปๆ€งๆฐ—้“ๆ„ŸๆŸ“ใฎๅŽŸๅ› ใจใชใ‚Šใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใซ่‡ณใ‚‹ใ€‚ๆฌง็ฑณใฎ็–พๆ‚ฃๅcystic fibrosisใฎๅ’Œ่จณใฏๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใพใงๆˆ‘ใŒๅ›ฝใงใฏ่†ตๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใฎ็–พๆ‚ฃๅใง้›ฃ็—…็™ป้Œฒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100110NANDO:2200205
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_06_008_01.pdf
rdfs:label - "Hypopituitarism" + "cystic fibrosis" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200922
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2041
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_06_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100035
+ skos:altLabel + "CF" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009061
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100111 +
http://nanbyodata.jp/ontology/NANDO_2200206 (rdf:type owl:Class @@ -82851,46 +129857,79 @@

hasNotificationNumber4
+ dcterms:description + "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใฏใ€ๆง˜ใ€…ใชๅŽŸๅ› ใงๆฐ—็ฎกๆ”ฏๅฃใŒ็ ดๅฃŠใ•ใ‚Œใฆ่†จ้š†ใ—ใ€ๆฐ—็ฎกๆ”ฏๅ†…่…”ใŒๆ‹กๅผตใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅ†…่…”ใซใฏ่†ฟๆ€งใฎ็—ฐใŒๅ……ๆบ€ใ—ใ€ๆ…ขๆ€ง็š„ใซ็‚Ž็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ‹ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ€‚ๅ‰ฏ้ผป่…”็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2100111NANDO:2200206
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_07_009_01.pdf
rdfs:label - "Pituitary gigantism" + "bronchiectasis" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" + "ใใ‹ใ‚“ใ—ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01618https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00892
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_07_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100036
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004822
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" + "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100112 +
http://nanbyodata.jp/ontology/NANDO_2200207 (rdf:type owl:Class @@ -82898,46 +129937,86 @@

hasNotificationNumber11
+ dcterms:description + "่‚บๆœซๆขขๆ€งใฎๅพฎๅฐๅ‡บ่ก€ใŒๅๅพฉใ—ใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณใŒ่‚บ็ต„็น”ใซๆฒˆ็€ใ—ใฆใใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ„ใ†ใ€‚ๆง˜ใ€…ใช็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใŒใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใ‚’็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100112NANDO:2200207
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_08_010_01.pdf
rdfs:label - "Acromegaly" + "Idiopathic pulmonary hemosiderosis" @en
rdfs:label - "ๅ…ˆ็ซฏๅทจๅคง็—‡" + "ใจใใฏใคใ›ใ„ใฏใ„ใธใ‚‚ใ˜ใงใ‚ใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01483http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1326
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_08_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100037
+ skos:altLabel + "Idiopathic pulmonary haemosiderosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008346
skos:prefLabel - "ๅ…ˆ็ซฏๅทจๅคง็—‡" + "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100113 +
http://nanbyodata.jp/ontology/NANDO_2200208 (rdf:type owl:Class @@ -82945,41 +130024,76 @@

hasNotificationNumber14
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ‘ผๅธ้šœๅฎณใŒ่ปฝๅฟซใ—ใŸๅพŒใ€ใ‚ใ‚‹ใ„ใฏใใ‚Œใซๅผ•ใ็ถšใ„ใฆใ€้…ธ็ด ๅธๅ…ฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ‚ˆใ†ใชๅ‘ผๅธ็ชฎ่ฟซ็—‡็ŠถใŒๆ—ฅ้ฝข28ใ‚’่ถ…ใˆใฆ็ถšใใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ่‚บใซ็—…ๅค‰ใŒใชใ„็„กๅ‘ผๅธ็™บไฝœใ€ไธ€้Žๆ€งใซ้…ธ็ด ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŒ้•ทๆœŸ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ—ใชใ„่‚บ็‚Žใชใฉใฎๆ€ฅๆ€ง็–พๆ‚ฃใฏ้™คๅค–ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100113NANDO:2200208
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_09_011_01.pdf
rdfs:label - "Growth hormone deficiency" + "chronic lung disease" @en
rdfs:label - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ใพใ‚“ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_09_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100038
+ skos:altLabel + "CLD" + @en
skos:prefLabel - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100114 +
http://nanbyodata.jp/ontology/NANDO_2200209 (rdf:type owl:Class @@ -82987,41 +130101,79 @@

hasNotificationNumber13
+ dcterms:description + "ไธๅฏ้€†ๆ€งใฎ็ดฐๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใซใ‚ˆใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใชใฉใฎๆ›ๆฐ—้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100114NANDO:2200209
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_10_012_01.pdf
rdfs:label - "Growth hormone insensitivity" + "bronchiolitis obliterans" @en
rdfs:label - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" + "ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200745
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_10_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100039
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015265
skos:prefLabel - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" + "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100115 +
http://nanbyodata.jp/ontology/NANDO_2200210 (rdf:type owl:Class @@ -83029,46 +130181,79 @@

hasNotificationNumber7
+ dcterms:description + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ๅ†…ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ๆฌ ๆๅญ”ใฏๆจช้š”่†œใฎใฉใฎ้ƒจไฝใซ็”Ÿใ˜ใฆใ‚‚ใ‚ˆใ„ใŒใ€้ ปๅบฆใŒ้ซ˜ใ่‡จๅบŠ็š„ๆ„็พฉใŒๅคงใใ„ใฎใฏใ€ๆฌ ๆๅญ”ใŒๆจช้š”่†œใฎๅพŒๅค–ๅดใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใงใ‚ใ‚‹ใŸใ‚ใ€ๅ˜ใซๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ขใจใ„ใˆใฐใ€ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใฎใ“ใจใ‚’ๆŒ‡ใ™ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่ƒธ่…”ๅ†…ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100115NANDO:2200210
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_11_013_01.pdf
rdfs:label - "Hyperprolactinemia" + "congenital diaphragmatic hernia" @en
rdfs:label - "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01388http://nanbyodata.jp/ontology/NANDO_1200911
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_11_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100040
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005711
skos:prefLabel - "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" + "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100116 +
http://nanbyodata.jp/ontology/NANDO_2200211 (rdf:type owl:Class @@ -83076,41 +130261,69 @@

hasNotificationNumber9
+ dcterms:description + "่‚บๅฎŸ่ณชๅ†…ใซๅ…ˆๅคฉๆ€งใซๆฐ—้“ไปฅๅค–ใซๆ’ๅธธ็š„ใซๅšข่ƒžใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใฏๅ‡บ็”Ÿๅ‰ใซ่ƒŽๅ…่‚บใฎ็•ฐๅธธใจใ—ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๅ…จๅ›ฝ็š„ใช่ชฟๆŸปใงใฏใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใฎ10-15๏ผ…็จ‹ๅบฆใฏๅ‘จ็”ฃๆœŸใซใ€่ƒŽๅ…ๆฐด่…ซใ€ๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใ€็”Ÿ็›ดๅพŒใฎๅ‘ผๅธไธๅ…จใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅˆ†ใ‹ใฃใŸใ€‚็”Ÿ็›ดๅพŒใซๅ‘ผๅธๅ™จ็—‡็ŠถใŒใชใ„ๅ ดๅˆใงใ‚‚ใ€9ๅ‰ฒไปฅไธŠใฎ็—‡ไพ‹ใฏๅนผๅ…ๆœŸใฎ้–“ใซๅๅพฉใ™ใ‚‹่‚บๆ„ŸๆŸ“ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใŸใ‚ใ€ไนณๅ…ๆœŸใ€้…ใใ‚‚ๅนผๅ…ๆœŸๆ—ฉๆœŸใพใงใซๆ‰‹่ก“็š„ใซ็—…ๅค‰ใ‚’ๅˆ‡้™คใ™ในใใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€้ƒจใฎ็—‡ไพ‹ใงใฏ่ค‡ๆ•ฐ่‚บ่‘‰ใซ็—…ๅค‰ใŒใฟใ‚‰ใ‚Œใ€ๆ‰‹่ก“ๅพŒใ‚‚ๆˆไบบๅพŒใพใงๅšข่ƒžๆ€ง็—…ๅค‰ใฎ้บๆฎ‹ใ‚„ใ€ๅ‘ผๅธ้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๆ‰‹่ก“ใฎๅๅพฉใ‚„ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆœฌ็–พๆ‚ฃใ‹ใ‚‰ใฎ็™บใŒใ‚“ใฎๅ ฑๅ‘ŠใŒๆตทๅค–ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ1992ๅนดไปฅ้™ใซๅ‡บ็”Ÿใ—ใŸ850ไพ‹ไปฅไธŠใฎ็—‡ไพ‹ไธญใง็™บใŒใ‚“ไพ‹ใฏ็ขบ่ชใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ“ใ‚Œใ‚‰ใ‹ใ‚‰ใ€ๆ‰‹่ก“ๅพŒใซๆญฃๅธธ่‚บๆฉŸ่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹็—‡ไพ‹ใŒๅคšใ„ไธ€ๆ–นใงใ€ๆˆไบบไปฅ้™ใ‚‚็ตŒ้Ž่ฆณๅฏŸใ‚’่ฆใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100116NANDO:2200211
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_12_014_01.pdf
rdfs:label - "Syndrome of inappropriate secretion of antidiuretic hormone" + "Congenital cystic lung disease" @en
rdfs:label - "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณ๏ผˆADH๏ผ‰ไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_12_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100041
skos:prefLabel - "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณ๏ผˆADH๏ผ‰ไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100117 +
http://nanbyodata.jp/ontology/NANDO_2200212 (rdf:type owl:Class @@ -83118,41 +130331,79 @@

hasNotificationNumber72
+ dcterms:description + "ๆดž็ต็ฏ€ใฎไธ€้Žๆ€งใ‚ใ‚‹ใ„ใฏๆŒ็ถšๆ€งใฎๆฉŸ่ƒฝไธๅ…จใ‚‚ใ—ใใฏใ€ๆดž็ต็ฏ€ใ‹ใ‚‰ๅฟƒๆˆฟใธใฎ่ˆˆๅฅฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚‹็—‡ๅ€™็พคใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚Rubensteinใฎๅˆ†้กžใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚Rubensteinใฎๅˆ†้กž๏ผš I็พค๏ผšๅŽŸๅ› ไธๆ˜Žใฎๆดžๆ€งๅพ่„ˆ๏ผˆ๏ผœ50/ๅˆ†๏ผ‰ II็พค๏ผšๆดžๅœๆญขใพใŸใฏๆดžๆˆฟใƒ–ใƒญใƒƒใ‚ฏ III็พค๏ผšๅพ่„ˆ้ ป่„ˆ็—‡ๅ€™็พคๅพ่„ˆใซใ‚ˆใ‚‹็—‡็ŠถใŒใ‚ใ‚‹ใ‚‚ใฎใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใงใ‚ใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆคใˆ่พผใฟๅพŒใฏใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใƒšใƒผใ‚นใƒกใƒผใ‚ซ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100117NANDO:2200212
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_01_001_01.pdf
rdfs:label - "Diabetes insipidus" + "Sick sinus syndrome" @en
rdfs:label - "ๅฐฟๅดฉ็—‡" + "ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆดžไธๅ…จ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00729
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100043
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001823
skos:prefLabel - "ๅฐฟๅดฉ็—‡" + "ๆดžไธๅ…จ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100118 +
http://nanbyodata.jp/ontology/NANDO_2200213 (rdf:type owl:Class @@ -83160,41 +130411,81 @@

hasNotificationNumber95
+ dcterms:description + "ๅฟƒ้›ปๅ›ณใงPR้–“้š”ใฎๅปถ้•ทใ‚’ไผดใ‚ใšใ€็ช็„ถๅฟƒๅฎคใธใฎไผๅฐŽใŒ้€”็ตถใ—ใ€๏ผ‘ใ€œ๏ผ’ๆ‹ใฎQRSๆณขใŒ่„ฑ่ฝใ™ใ‚‹ๅฟƒๆˆฟๅฟƒๅฎคไผๅฐŽ้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใ€‚1ใ€œ2ๆ‹ใฎQRS่„ฑ่ฝใงใ‚ใ‚Œใฐใ€็—‡็Šถใ‚’่จดใˆใ‚‹ใ“ใจใฏๅฐ‘ใชใ„ใŒใ€2๏ผš1ๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏไปฅไธŠใฎ้ซ˜ๅบฆๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใงใฏๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซๆบ–ใ˜ใŸ็ตŒ้Ž่ฆณๅฏŸใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซ้€ฒ่กŒใ™ใ‚Œใฐใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใฎ้ฉๅฟœใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100118NANDO:2200213
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_02_002_01.pdf
rdfs:label - "Cerebral salt wasting syndrome" + "Mobitz type II second degree atrioventricular block" @en
rdfs:label - "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" + "ใ‚‚ใณใฃใค๏ผ’ใŒใŸใถใ‚ใฃใ" + @ja-Hira
+ rdfs:label + "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100044
+ skos:altLabel + "Mobitz2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ " + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001261
skos:prefLabel - "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" + "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100119 +
http://nanbyodata.jp/ontology/NANDO_2200214 (rdf:type owl:Class @@ -83202,46 +130493,74 @@

hasNotificationNumber9
+ dcterms:description + "PๆณขใŒๅฟƒๅฎคใซไผๅฐŽใ›ใšใ€PๆณขใจQRSๆณขใŒๅ…จใ็‹ฌ็ซ‹ใ—ใŸ่ชฟๅพ‹ใ‚’ใจใ‚‹ใ€‚่ƒŽๅ…ใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Š๏ผˆๅ…ˆๅคฉๆ€งๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ๏ผ‰ใ€ใ“ใฎๅ ดๅˆใ€ๆŠ—SS-AๆŠ—ไฝ“ใ€ๆŠ—SS-BๆŠ—ไฝ“้™ฝๆ€งใฎๆฏใ‹ใ‚‰ใฎๅ‡บ็”Ÿๅ…ใฎใ“ใจใŒๅคšใ„ใ€‚ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ€ๅŽŸๅ› ไธๆ˜Žใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—‡ๅ€™ๆ€งๅพ่„ˆใ€ๅฟƒๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใ€ไฝŽๆ‹ๅ‡บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใ‚’่กŒใชใˆใฐไบˆๅพŒใฏๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็„กๆฒป็™‚ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100119NANDO:2200214
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_03_003_01.pdf
rdfs:label - "hyperthyroidism" + "Complete atrio-ventricular block" @en
rdfs:label - "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "ใ‹ใ‚“ใœใ‚“ใผใ†ใ—ใคใถใ‚ใฃใ" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01645https://www.shouman.jp/disease/details/04_03_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100045
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000468
skos:prefLabel - "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100120 +
http://nanbyodata.jp/ontology/NANDO_2200215 (rdf:type owl:Class @@ -83249,41 +130568,74 @@

hasNotificationNumber13
+ dcterms:description + "ๅˆบๆฟ€ไผๅฐŽ็ณปใฎๅทฆ่„šใ‚‚ใ—ใใฏๅณ่„šใฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅน…ใฎๅบƒใ„QRSใงใ€QRSๆ™‚้–“ใฏ0.12็ง’ไปฅไธŠใจใชใ‚‹ใ€‚ๅคšใใฏ็‰น็™บๆ€งใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใ€‚่„šใƒ–ใƒญใƒƒใ‚ฏใฎใฟใงใฏๆฒป็™‚ใฎๅฟ…่ฆใฏใชใ„ใ€‚็‰น็™บไพ‹ใฎไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100120NANDO:2200215
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_04_004_01.pdf
rdfs:label - "Hypothyroidism" + "Bundle branch block" @en
rdfs:label - "็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใใ‚ƒใใถใ‚ใฃใ" + @ja-Hira
+ rdfs:label + "่„šใƒ–ใƒญใƒƒใ‚ฏ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_04_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100046
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020803
skos:prefLabel - "็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "่„šใƒ–ใƒญใƒƒใ‚ฏ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100121 +
http://nanbyodata.jp/ontology/NANDO_2200216 (rdf:type owl:Class @@ -83291,41 +130643,74 @@

hasNotificationNumber67
+ dcterms:description + "2็จฎ้กžไปฅไธŠใฎQRSๆณขๅฝขใฎๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ€‚ใปใจใ‚“ใฉใŒๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ไผดใ‚ใชใ„ใ€‚้‹ๅ‹•่ฒ ่ทใงๅ†็พๆ€งใ‚’ใ‚‚ใฃใฆ๏ผŒๅฟƒๅฎคๆ‹ๆ•ฐ200 ไปฅไธŠใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚„ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏใ€้‹ๅ‹•ๅˆถ้™ใŒๅฟ…่ฆใงใ€่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ๅ˜ๅฝขๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใจๆฏ”่ผƒใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใซ้–ขใ—ใฆใฏใ„ใพใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100121NANDO:2200216
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_05_005_01.pdf
rdfs:label - "Resistance to thyroid hormone" + "Polymorphic ventricular premature beat" @en
rdfs:label - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใ—ใคใใŒใ„ใ—ใ‚…ใ†ใ—ใ‚…ใ" + @ja-Hira
+ rdfs:label + "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_05_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100047
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017990
skos:prefLabel - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100122 +
http://nanbyodata.jp/ontology/NANDO_2200217 (rdf:type owl:Class @@ -83333,41 +130718,79 @@

hasNotificationNumber26
+ dcterms:description + "WPW็—‡ๅ€™็พคใฏฮ”ๆณขใ€PQๆ™‚้–“็Ÿญ็ธฎใ€QRSๅน…ใฎๅปถ้•ทใชใฉ็‰นๅพด็š„ใชๅฟƒ้›ปๅ›ณใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ไธŠๅฎค้ ปๆ‹ไธญใฎๅฟƒ้›ปๅ›ณใฏใปใจใ‚“ใฉใฎๅ ดๅˆๅน…ใฎ็‹ญใ„QRSๆณขใงใ€ไธ‹่จ˜ใซ่ฟฐในใ‚‹ใ‚ˆใ†ใซๆˆฟๅฎค็ต็ฏ€ใ‚’้ †ไผๅฐŽ๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคใธไผๅฐŽใ™ใ‚‹๏ผ‰ใ€ๅ‰ฏไผๅฐŽ่ทฏใ‚’้€†ไผๅฐŽ๏ผˆๅฟƒๅฎคใ‹ใ‚‰ๅฟƒๆˆฟใธ้€†ไผๅฐŽ๏ผ‰ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ—ใŸๅ ดๅˆใ€ๅฟƒๆˆฟ็ดฐๅ‹•ใซไผดใ†ๅฝๆ€งๅฟƒๅฎค้ ปๆ‹ใซใ‚ˆใ‚‹็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŒใ€WPW็—‡ๅ€™็พคใฎ1%ไปฅไธ‹ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ใใฎๅคšใใฏ10ไปฃไปฅๅพŒใงใ‚ใ‚‹ใ€‚้ ปๆ‹็™บไฝœใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ่–ฌ็‰ฉๆฒป็™‚ใพใŸใฏใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ใซไฝฟ็”จไธ่ƒฝใชๅ ดๅˆใพใŸใฏๆ‚ฃ่€…ใŒ่–ฌ็‰ฉๆฒป็™‚ใฎ็ถ™็ถšใ‚’ๆœ›ใพใชใ„ๅ ดๅˆใซใฏใ€้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ไธ€่ˆฌใฎๆญฃๅธธไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใ€‚" + @ja
dcterms:identifier2100122NANDO:2200217
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_06_006_01.pdf
rdfs:label - "Adenomatous goiter" + "Supraventricular tachycardia due to WPW syndrome" @en
rdfs:label - "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" + "ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ๏ผˆใ ใถใ‚‹ใดใƒผใ ใถใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1655
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_06_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100048
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008685
skos:prefLabel - "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" + "ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100123 +
http://nanbyodata.jp/ontology/NANDO_2200218 (rdf:type owl:Class @@ -83375,46 +130798,74 @@

hasNotificationNumber27
+ dcterms:description + "่ค‡ๆ•ฐใพใŸใฏๅบƒใ„็ฏ„ๅ›ฒใง็•ฐๅธธ่‡ชๅ‹•่ƒฝใฎไบข้€ฒใ‚„ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅไธ‹ใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚1๏ผŽ2ใ‚ซๆ‰€ไปฅไธŠใฎ็•ฐใชใฃใŸ้ƒจไฝใฎๅฟƒๆˆฟใ‹ใ‚‰้ ปๆ‹ใŒ็™บ็”Ÿใ™ใ‚‹๏ผŽๅ„ใ€…ใฎๅฟƒๆˆฟๆณขใฎๅฟƒๆˆฟ่ˆˆๅฅฎ้ †ไฝใ‚„ๅฟƒๆˆฟ้›ปไฝใŒ็•ฐใชใ‚‹๏ผŽๅคšใใฏnarrow QRSใงใ‚ใ‚‹ใŒใ€ๅฟƒๅฎคๅ†…ๅค‰่กŒไผๅฐŽใซใ‚ˆใ‚Š๏ผŒๅน…ๅบƒใ„QRSๆณขใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ2๏ผŽๅฟƒๆˆฟใƒšใƒผใ‚ทใƒณใ‚ฐใซใ‚ˆใ‚‹ไธๆ•ด่„ˆใฎ่ช˜็™บ๏ผŒๅœๆญขใฏใงใใชใ„๏ผŽ3๏ผŽ้ ปๆ‹ไธญใฎๅฟƒๆˆฟใฎ้ซ˜้ ปๅบฆๅˆบๆฟ€ใงใฏไธ€้Žๆ€งใซ้ ปๆ‹ใŒๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ ปๆ‹ใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใŒใคใ‘ใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้ ปๆ‹ใŒๆŒ็ถšใ™ใ‚Œใฐใ€้ ปๆ‹ไพๅญ˜ๆ€งๅฟƒ็ญ‹็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100123NANDO:2200218
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_06_007_01.pdf
rdfs:label - "Hyperparathyroidism" + "Multiple atrial tachycardia" @en
rdfs:label - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใผใ†ใฒใ‚“ใฑใ" + @ja-Hira
+ rdfs:label + "ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00246https://www.shouman.jp/disease/details/04_06_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100048
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005479
skos:prefLabel - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹" @ja
- - + + + + + + + + + - + + + + + + "6ใŠใ‚ˆใณ7ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100124 +
http://nanbyodata.jp/ontology/NANDO_2200219 (rdf:type owl:Class @@ -83422,46 +130873,69 @@

hasNotificationNumber28
+ dcterms:description + "ๆˆฟๅฎค็ต็ฏ€ใŠใ‚ˆใณใใฎๅ‘จๅ›ฒใฎๅฟƒๆˆฟ็ญ‹ใ‚’ไป‹ใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผๆ€ง้ ปๆ‹ใง๏ผŒไผๅฐŽ้€ŸๅบฆใŒ้€Ÿใ„้€ŸไผๅฐŽ่ทฏ๏ผˆfast pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้…ใ„้…ไผๅฐŽ่ทฏ๏ผˆslow pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้žๅธธใซ้…ใ„ไผๅฐŽ่ทฏ๏ผˆsuper slow pathway๏ผ‰ใŒ้ ปๆ‹ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚Slow-Fastๅž‹ใฎๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฏๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฎ80๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ใ€‚ใ“ใฎๅž‹ใฏใ€right posterior extensionใŒ้ †่กŒๆ€ง๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคๅดใธใฎไผๅฐŽ๏ผ‰ใฎ้…ไผๅฐŽ่ทฏใจ่จ€ใ‚ใ‚ŒใฆใŠใ‚Šใ€ใ“ใ“ใ‚’ไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒๆˆฟๅฎค็ต็ฏ€ใ‚’ไป‹ใ—ใฆleft posterior extensionใธไผๅฐŽใ™ใ‚‹ใ€‚ใ“ใฎ่ˆˆๅฅฎใฏใ€ๅทฆๆˆฟใจๅ† ้™่„ˆๆดž้–“ใฎmuscular connectionใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžใธไผๅฐŽใ—ใ€ๅ† ้™่„ˆๆดžๅ†…ใฎ็ญ‹ๆ€ง็ต„็น”ใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžๅ…ฅๅฃ้ƒจใซ่ˆˆๅฅฎใŒไผๅฐŽใ—ใ€ใ“ใ“ใ‹ใ‚‰right posterior extensionใธ่ˆˆๅฅฎใŒไผๅฐŽใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้€ŸไผๅฐŽ่ทฏใฏใ€ๆˆฟๅฎค็ต็ฏ€ใ‚‚ใ—ใใฏleft posterior extensionใฎไธ€้ƒจใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸใ€้…ไผๅฐŽ่ทฏใ‹ใ‚‰ๆˆฟๅฎค็ต็ฏ€ใธไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒใ€Kochไธ‰่ง’ใฎๅณๆˆฟๅดใ‚’ไผๅฐŽใ™ใ‚‹ใจใฎ่ชฌใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใฎ็™บ็—‡ใฏๅฐ‘ใชใใ€ๅนผๅ…ใ€ๅญฆ็ซฅใ€ๆ€ๆ˜ฅๆœŸใซใ‹ใ‘ใฆ้ ปๅบฆใฏๅข—ๅŠ ใ™ใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใฎ้ฉๅฟœใฏใ€ๅคฑ็ฅžใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚„ใ€่ปฝ็—‡็Šถใงใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ไผดใ†้ ปๆ‹็™บไฝœใฎๆ—ขๅพ€ใŒใ‚ใ‚‹ๅ ดๅˆใ€ใพใŸใฏใ€้ ปๆ‹็™บไฝœใŒใ‚ใ‚Š๏ผŒ่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ไฝฟ็”จไธ่ƒฝใพใŸใฏๆ‚ฃ่€…ใŒๆœ›ใพใชใ„ๅ ดๅˆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100124NANDO:2200219
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_06_008_01.pdf
rdfs:label - "Hypoparathyroidism" - @en
rdfs:label - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹" @ja
+ rdfs:label + "Other Supraventricular tachycardia" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01862https://www.shouman.jp/disease/details/04_06_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100048
skos:prefLabel - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100125 +
http://nanbyodata.jp/ontology/NANDO_2200220 (rdf:type owl:Class @@ -83469,41 +130943,69 @@

hasNotificationNumber33
+ dcterms:description + "ๅทฆ่„šๅพŒๆž้ ˜ๅŸŸใ‚’ๅˆฉ็”จใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผใซใ‚ˆใ‚‹ๅฟƒๅฎค้ ปๆ‹ใ€‚ๅทฆ่„šๅพŒๆž่ฟ‘ๅ‚ใฎ้ƒจไฝใซslow conductionใ‚’่ตทใ“ใ™้ƒจไฝใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅทฆๅฎคๅ†…ใซๅญ˜ๅœจใ™ใ‚‹false tendonใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใฎslow conductionใ‚’ใŠใ“ใ™้ƒจไฝใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ‹ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚’่กŒใ†ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ๅฅๅธธๆˆไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใฎ่ฆณๅฏŸใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100125NANDO:2200220
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_009_01.pdf
rdfs:label - "Autoimmune polyendocrinopathy" + "Verapamil sensitive ventricular tachycardia" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค" + "ในใ‚‰ใฑใฟใ‚‹ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100049
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค" + "ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100126 +
http://nanbyodata.jp/ontology/NANDO_2200221 (rdf:type owl:Class @@ -83511,46 +131013,86 @@

hasNotificationNumber32
+ dcterms:description + "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹(catecholaminergic polymorphic ventricular tachycardia: CPVT) ใฏใ€้‹ๅ‹•ใ‚„ๆƒ…ๅ‹•ใฎๅค‰ๅŒ–ใ€ใ‚ใ‚‹ใ„ใฏใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณๆŠ•ไธŽใงใ€ไบŒๆ–นๅ‘ๆ€งใ‚ใ‚‹ใ„ใฏๅคšๅฝขๆ€งใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ€ๅฟƒๅฎค็ดฐๅ‹•ใซ็งป่กŒใ—ใฆๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™่‡ดๆญป็š„ไธๆ•ด่„ˆใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใ€‚ใƒชใ‚ขใƒŽใ‚ธใƒณๅ—ๅฎนไฝ“RyR2 ใ‚„calsequestrin 2 (CASQ2)ใฎ้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅฐ่ƒžไฝ“ใ‹ใ‚‰ๅคง้‡ใฎCa2+ๆ”พๅ‡บใŒใŠใ“ใ‚Šใ€ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใ‚’ๆฉŸๅบใจใ™ใ‚‹ๅฟƒๅฎค้ ปๆ‹ใŒ่ตทใ“ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌๅ‰คๆŠ•ไธŽใ‚’่กŒใชใ‚ใชใ‹ใฃใŸๅ ดๅˆๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚‹ใ€‚่–ฌๅ‰คๆฒป็™‚ใ‚’่กŒใชใฃใฆใ‚‚10ๅนดใง15ใ‹ใ‚‰40%ๆญปไบกใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100126NANDO:2200221
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_010_01.pdf
rdfs:label - "Pseudopseudohypoparathyroidism" + "Catecholaminergic polymorphic ventricular tachycardia" @en
rdfs:label - "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‹ใฆใ“ใ‚‰ใฟใ‚“ใ‚†ใ†ใฏใคใŸใ‘ใ„ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00244https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01019
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100049
+ skos:altLabel + "CPVT" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017990
skos:prefLabel - "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
- - + + + + + + + + + - + + + + + + "9ใŠใ‚ˆใณ10ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100127 +
http://nanbyodata.jp/ontology/NANDO_2200222 (rdf:type owl:Class @@ -83558,41 +131100,69 @@

hasNotificationNumber34
+ dcterms:description + "ๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Šใ€็จ€ใซๅทฆๅฎคๆตๅ‡บ่ทฏใ‚„ใ€ๅทฆๅ† ๅฐ–ใ€่‚บๅ‹•่„ˆ่ตทๆบใชใฉใŒใ‚ใ‚‹ใ€‚ไปฅไธ‹ใฎๆฉŸๅบใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚โ‘ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆadenosine sensitive VT๏ผ‰้‹ๅ‹•่ช˜็™บๆ€งใฎใ‚‚ใฎใจ๏ผŒๅๅพฉๆ€งใงๆ•ฐๆ‹ใฎๆดž่ชฟๅพ‹ใ‚’ๆŒŸใ‚“ใงไธ€ๆ—ฅไธญ้ ปๆ‹ใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚‚ใฎใจใŒใ‚ใ‚‹๏ผŽๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Š๏ผŒๅทฆๅฎค่ตทๆบใฎใ‚‚ใฎใฏ10%็จ‹ๅบฆใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹๏ผŽcAMPใฎ้–ขไธŽใ™ใ‚‹ๆฟ€็™บๆดปๅ‹•ใจใ•ใ‚Œใฆใ„ใ‚‹๏ผŽใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATP๏ผŒใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ™ใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บ๏ผŒๅœๆญขใŒๅฏ่ƒฝใงใ‚ใ‚Š๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„โ‘กใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆpropranolol sensitive VT๏ผ‰ๅณๅฎค๏ผŒ็จ€ใซๅทฆๅฎค่ตทๆบใงใ‚ใ‚Š๏ผŒใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๆ€ง่‡ชๅ‹•่ƒฝใŒๆฉŸๅบใงใ‚ใ‚‹๏ผŽVTใฏใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ›ใš๏ผŒใจใใซใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATPใงๆŠ‘ๅˆถใ•ใ‚Œ๏ผŒใ‚คใ‚ฝใƒ—ใƒญใƒ†ใƒฌใƒŽใƒผใƒซๆŠ•ไธŽ๏ผŒ้‹ๅ‹•ใง่ช˜็™บใ•ใ‚Œใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บใ‚‚ๅœๆญขใ‚‚ใ•ใ‚Œใš๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„๏ผŽ็ช็„ถๆญปใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใŒใ€็จ€ใซๆตๅ‡บ่ทฏๅž‹ๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’ๅฅ‘ๆฉŸใซๅฟƒๅฎค็ดฐๅ‹•ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100127NANDO:2200222
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_011_01.pdf
rdfs:label - "Cushing (Cushing) syndrome" - @en
rdfs:label - "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ๏ผˆCushing๏ผ‰็—‡ๅ€™็พค" + "9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹" @ja
+ rdfs:label + "Other Ventricular tachycardia" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100049
skos:prefLabel - "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ๏ผˆCushing๏ผ‰็—‡ๅ€™็พค" + "9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹" @ja
- - + + + + + - + + + + + - - - - + "ใ‚ใงใฎใ—ใ‚“ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira - + - -
http://nanbyodata.jp/ontology/nando#2100128 +
http://nanbyodata.jp/ontology/NANDO_2200223 (rdf:type owl:Class @@ -83600,83 +131170,81 @@

hasNotificationNumber34
dcterms:identifier2100128NANDO:2200223
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_011_01.pdf
rdfs:label - "Chronic adrenal insufficiency" + "adenosine sensitive VT" @en
rdfs:label - "ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109
- skos:prefLabel + rdfs:label - "ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
- - - - - + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2100129 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100129 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_011/
- rdfs:label + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200222
+ skos:altLabel - "Aldosteronism" + "Adenosine-sensitive ventricular tachycardia" @en
- rdfs:label + skos:altLabel - "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งVT" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005477
skos:prefLabel - "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100130 +
http://nanbyodata.jp/ontology/NANDO_2200224 (rdf:type owl:Class @@ -83684,41 +131252,67 @@

hasNotificationNumber34
dcterms:identifier2100130NANDO:2200224
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_011_01.pdf
rdfs:label - "Apparent mineralocorticoid excess syndrome" + "propranolol sensitive VT" @en
rdfs:label - "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค๏ผˆAME็—‡ๅ€™็พค๏ผ‰" + "ใทใ‚ใทใ‚‰ใฎใ‚ใƒผใ‚‹ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2200222
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005477
skos:prefLabel - "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค๏ผˆAME็—‡ๅ€™็พค๏ผ‰" + "ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100131 +
http://nanbyodata.jp/ontology/NANDO_2200225 (rdf:type owl:Class @@ -83726,41 +131320,74 @@

hasNotificationNumber47
+ dcterms:description + "ๅฟƒๆˆฟๅ†…ใฎใƒžใ‚ฏใƒญใƒชใ‚จใƒณใƒˆใƒชใƒผใงใ‚ใ‚Šใ€้€šๅธธๅž‹ใงใฏไธ‰ๅฐ–ๅผๅ‘จๅ›ฒใ‚’ๅๆ™‚่จˆๅ›ž่ปขๆ–นๅ‘ใ‚‚ใ—ใใฏๅๆ™‚่จˆๆ–นๅ‘ใซ๏ผŒ้ž้€šๅธธๅž‹ใงใฏใใ‚Œไปฅๅค–ใฎๅ›ž่ทฏใ‚’ๅˆฉ็”จใ™ใ‚‹๏ผŽ้€šๅธธๅž‹ใฏไธŠๅคง้™่„ˆ๏ผŒๅˆ†็•Œ็จœใ€ไธ‹ๅคง้™่„ˆใ€Eustachianๅผใ€ๅ† ้™่„ˆๆดžใŒ่งฃๅ‰–ๅญฆ็š„้šœๅฃใจใชใ‚Šใ€ใใฎๅค–ๅดใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใจใชใ‚‹๏ผŽ็ทฉๅพไผๅฐŽใฏใชใ„ใŒ๏ผŒไธ‹ๅคง้™่„ˆโ”€ไธ‰ๅฐ–ๅผ่ผชๅณฝ้ƒจ(cavo-tricuspid isthmus: CTI)ใŒๅ…ฑ้€šใฎๅ›ž่ทฏใงใ‚ใ‚‹๏ผŽๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„ไพ‹ใฎ็™บ็”Ÿ้ ปๅบฆใฏๆฅตใ‚ใฆๅฐ‘ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ้™ๅฎšใ—ใฆ่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚1๏ผš1ๆˆฟๅฎคไผๅฐŽใ‚’ใใŸใ™ใจๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚้•ทๆœŸใซๅฟƒๆˆฟ็ฒ—ๅ‹•ใŒ็ถšใใจใ€ๅฟƒ็ญ‹็—‡๏ผˆๅฟƒๆฉŸ่ƒฝไธๅ…จ๏ผ‰ใ€่ก€ๆ “ใ€ๅกžๆ “็—‡ใฎๅŽŸๅ› ใจใชใ‚Šใ†ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100131NANDO:2200225
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_08_012_01.pdf
rdfs:label - "Liddle syndrome" + "Atrial flutter" @en
rdfs:label - "ใƒชใƒ‰ใƒซ๏ผˆLiddle๏ผ‰็—‡ๅ€™็พค" + "ใ—ใ‚“ใผใ†ใใฉใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๆˆฟ็ฒ—ๅ‹•" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_08_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100050
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005310
skos:prefLabel - "ใƒชใƒ‰ใƒซ๏ผˆLiddle๏ผ‰็—‡ๅ€™็พค" + "ๅฟƒๆˆฟ็ฒ—ๅ‹•" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100132 +
http://nanbyodata.jp/ontology/NANDO_2200226 (rdf:type owl:Class @@ -83768,41 +131395,79 @@

hasNotificationNumber46
+ dcterms:description + "ๅฟƒๆˆฟใŒ็„ก็งฉๅบ้ซ˜้ ปๅบฆใซ่ˆˆๅฅฎใ™ใ‚‹ไธๆ•ด่„ˆใงใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใชใฉๅฟƒๆˆฟ็ญ‹ใซ่ฒ ๆ‹…ใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚ๅฐๅ…ใ‚„่‹ฅๅนด่€…ใซใŠใ„ใฆๅŸบ็คŽๅฟƒ็–พๆ‚ฃใฎใชใ„ๅญค็ซ‹ๆ€งๅฟƒๆˆฟ็ดฐๅ‹•ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๆดž่ชฟๅพ‹ใซๆˆปใ‚‰ใชใ‘ใ‚Œใฐ็›ดๆต้€š้›ปใ™ใ‚‹ใ€‚้ ปๅ›žใฎๅ ดๅˆใ‚„ๆŒ็ถšๆ€งใฎใ‚‚ใฎใฏ่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใฃใฆ่ฆๅฎšใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งใฎใ‚‚ใฎใฏใ€่ก€ๆ “ๅกžๆ “็—‡ใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100132NANDO:2200226
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_09_013_01.pdf
rdfs:label - "Hypoaldosteronism" + "Atrial fibrillation" @en
rdfs:label - "ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "ใ—ใ‚“ใผใ†ใ•ใ„ใฉใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๆˆฟ็ดฐๅ‹•" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00731
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_09_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100051
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004981
skos:prefLabel - "ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "ๅฟƒๆˆฟ็ดฐๅ‹•" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100133 +
http://nanbyodata.jp/ontology/NANDO_2200227 (rdf:type owl:Class @@ -83810,41 +131475,74 @@

hasNotificationNumber30
+ dcterms:description + "ๅฟƒๅฎคใŒ็„ก็งฉๅบใซ่ˆˆๅฅฎใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ€ๅฟƒ้›ปๅ›ณใงใฏๅŸบ็ทšใฎ็ดฐใ‹ใ„ๆบใ‚Œใจใ—ใฆ่จ˜้Œฒใ•ใ‚Œใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚Œใฐๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใซใฏQTๅปถ้•ท็—‡ๅ€™็พคใ€Brugada็—‡ๅ€™็พคใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€QT็Ÿญ็ธฎ็—‡ๅ€™็พคใ‚‚ๅซใ‚ใ‚‹ใŒใ€็‰น็™บๆ€งๅฟƒๅฎค็ดฐๅ‹•ใฏใ“ใ‚Œใ‚‰ใ‚’้™คใ„ใŸๅฟƒๅฎค็ดฐๅ‹•ใงใ€่ฟ‘ๅนดๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€Jๆณข็—‡ๅ€™็พค๏ผˆๆ—ฉๆœŸๅ†ๅˆ†ๆฅต็—‡ๅ€™็พค๏ผ‰ใŒใใฎ็ฏ„็–‡ใซๅ…ฅใ‚‹ใ€‚้ ปๆ‹ใฎไบˆ้˜ฒใฏใ‚ขใƒŸใ‚ชใƒ€ใƒญใƒณๅ†…ๆœใ€ๅŠใณICDๆค่พผใฟใงใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€ใฏใฃใใ‚Šใ—ใŸไบˆๅพŒใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100133NANDO:2200227
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_10_014_01.pdf
rdfs:label - "Pseudohypoaldosteronism" + "Ventricular fibrillation" @en
rdfs:label - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "ใ—ใ‚“ใ—ใคใ•ใ„ใฉใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎค็ดฐๅ‹•" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_10_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100052
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000190
skos:prefLabel - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "ๅฟƒๅฎค็ดฐๅ‹•" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100134 +
http://nanbyodata.jp/ontology/NANDO_2200228 (rdf:type owl:Class @@ -83852,46 +131550,86 @@

hasNotificationNumber14
+ dcterms:description + "QTๆ™‚้–“ใŒๅปถ้•ทใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€torsade de pointesใจๅ‘ผใฐใ‚Œใ‚‹ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€ๅฟƒๅฎค็ดฐๅ‹•ใชใฉใŒ่ช˜็™บใ•ใ‚Œใ€็ช็„ถๆญปใฎๅฑ้™บใฎใ‚ใ‚‹ๅฟƒ้›ปๅ›ณ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎRomano-Ward็—‡ๅ€™็พคใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎJervel-Lange-Nielsen็—‡ๅ€™็พคใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œ13็จฎ้กžใ€3็จฎ้กžใฎ้บไผๅญ็•ฐๅธธใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ‰็—‡็Šถไพ‹ใ‚„ใƒใ‚คใƒชใ‚นใ‚ฏไพ‹ใงใฏๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2100134NANDO:2200228
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_11_015_01.pdf
rdfs:label - "Congenital adrenal hyperplasia" + "Long qt syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + "QTๅปถ้•ท็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใใ‚…ใƒผใฆใƒใƒผใˆใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00216https://www.shouman.jp/disease/details/04_11_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100053
+ skos:altLabel + "LQTS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002442
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019171
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + "QTๅปถ้•ท็—‡ๅ€™็พค" @ja
- - + - - + + + + + + + + + + + + + + + + + + + + + + - + + + + + - + - -
http://nanbyodata.jp/ontology/nando#2100135 +
http://nanbyodata.jp/ontology/NANDO_2200229 (rdf:type owl:Class @@ -83899,60 +131637,79 @@

- dcterms:identifier2100135hasNotificationNumber88
+ dcterms:description + "ๆ˜Žใ‚‰ใ‹ใชๅฟƒ่‚ฅๅคงใ‚’ใใŸใ™ๅŽŸๅ› ็„กใๅฟƒๅฎคๅฃใฎ่‚ฅๅŽšใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅŽšใ‚’็คบใ™ใ€‚ๅทฆๅฎคใฎๆ‹กๅผตใฏใชใใ€ๅทฆๅฎคๅŽ็ธฎใฏๆญฃๅธธใ‹ไบข้€ฒใ—ใฆใ„ใ‚‹ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ้Œฏ็ถœ้…ๅˆ—ใ‚’ใจใ‚‚ใชใ†่‚ฅๅคงใ‚’็คบใ™ใ€‚ๅทฆๅฎคๆตๅ‡บ่ทฏใฎ็ญ‹่‚‰ใŒ่‚ฅๅŽšใ™ใ‚Œใฐใ€่‚ฅๅคงๅž‹้–‰ๅกžๆ€งๅฟƒ็ญ‹็—‡ใฎๅž‹ใจใชใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ๅทฆๅฎคๆ‹กๅผต้šœๅฎณใซใ‚ˆใ‚‹ๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใธใฎ็งป่กŒใซใ‚ˆใ‚‹ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
+ dcterms:identifierNANDO:2200229
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_12_016_01.pdf
+ rdfs:label + "Hypertrophic cardiomyopathy" + @en
+ rdfs:label + "ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label - "ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" + "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00937http://nanbyodata.jp/ontology/NANDO_1200286
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_12_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100054
- - - - - + + - + - - - -
http://nanbyodata.jp/ontology/nando#2100136 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100136 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005045
- rdfs:label + skos:prefLabel - "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰" + "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100137 +
http://nanbyodata.jp/ontology/NANDO_2200230 (rdf:type owl:Class @@ -83960,74 +131717,79 @@

- dcterms:identifier2100137hasNotificationNumber91
- rdfs:label + dcterms:description - "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰" + "ๅŽŸๅ› ไธๆ˜Žใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅค‰ๆ€งใ€่„‚่‚ชๆตธๆฝคใ€็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ๅณๅฎคใฎๆ‹กๅคงใ‚„ๅŽ็ธฎไธๅ…จใ€ๅณๅฎค่ตทๆบใฎๅฟƒๅฎคๆ€งไธๆ•ด่„ˆใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธๆ•ด่„ˆใจๅฟƒไธๅ…จใซๅฏพใ™ใ‚‹ๆฒป็™‚ใ‚’ใŠใ“ใชใ†ใ€‚ๆŒ็ถšๆ€งๅฟƒๅฎค้ ปๆ‹ใ‚„ๅฟƒๅฎค็ดฐๅ‹•ใชใฉไธๆ•ด่„ˆใซๅฏพใ™ใ‚‹ๆฒป็™‚ใฏใ€่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆคใˆ่พผใฟๅž‹้™ค็ดฐๅ‹•ๅ™จ๏ผˆICD๏ผ‰,ใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งๅฟƒไธๅ…จ็—‡็Šถใซๅฏพใ—ใฆใฏใ€ๆŠ—ๅฟƒไธๅ…จ่–ฌ็‰ฉ็™‚ๆณ•ใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใซๅๅฟœใ—ใชใ„ๅ ดๅˆใซใฏใ€ๅฟƒ่‡“็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109
- - - - - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100138 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100138NANDO:2200230
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_13_017_01.pdf
rdfs:label - "Hypogonadotropic hypogonadism" + "Arrhythmogenic right ventricular cardiomyopathy or dysplasia" @en
rdfs:label - "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใตใ›ใ„ใฟใ‚ƒใใ’ใ‚“ใ›ใ„ใ†ใ—ใคใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00255https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00293
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_13_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100055
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016587
skos:prefLabel - "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100139 +
http://nanbyodata.jp/ontology/NANDO_2200231 (rdf:type owl:Class @@ -84035,41 +131797,74 @@

hasNotificationNumber29
+ dcterms:description + "่ƒŽ็”ŸๆœŸใซใฏใ€ๅทฆๅฎคๅ†…่†œๅดๅฟƒ็ญ‹ๅฑคใฏใ€็ฒ—ใช้–“้š™ใŒ็ถฒ็›ฎ็Šถใซไนฑใ‚ŒใŸ่ตฐ่กŒใ‚’ใ—ใฆใŠใ‚Šใ€ใ“ใ‚ŒใŒ็™บ่‚ฒใจใจใ‚‚ใซๅฏ†ใจใชใฃใฆๅ†…่…”้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆ…‹ใ‚‚ๆถˆๅคฑใ—ใฆใ€่‚‰ๆŸฑใฏๆต…ใ็ดฐใ‹ใใชใฃใฆใ„ใใ€‚ๅฟƒๅฎค็‰นใซๅทฆๅฎคใฎๅฟƒ็ญ‹ใŒๅ…จๅฑคใซใ‚ใŸใฃใฆ็ทปๅฏ†ใช็Šถๆ…‹ใซๆˆ็†Ÿใ›ใšใ€้–“้š™ใŒๅคšใใชใฃใฆใ„ใ‚‹็Šถๆ…‹ใ‚’็ทปๅฏ†ๅŒ–้šœๅฎณใจใ„ใ†ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผๆณ•ใ€MRIใพใŸใฏๅทฆๅฎค้€ ๅฝฑๆณ•ใซใ‚ˆใฃใฆๅทฆๅฎคๅ†…้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆˆใจใใฎ้–“ใฎๆทฑใ„้™ฅๅ‡นใ‚’ใฟใจใ‚, ใใฎๅฟƒๅค–่†œๅดใซใ€็ทปๅฏ†ๅŒ–้šœๅฎณๅฑคใ‚ˆใ‚Š่–„ใ„็ทปๅฏ†ๅŒ–ๅฑคใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎใ“ใจใŒใ‚ใ‚Šใ€่‡จๅบŠ็š„ใซใฏๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ใจใ‚‹ใ€‚" + @ja
dcterms:identifier2100139NANDO:2200231
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_14_018_01.pdf
rdfs:label - "Hypergonadotropic hypogonadism" + "Non-compaction of the ventricle" @en
rdfs:label - "้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ—ใ‚“ใใ‚“ใกใฟใคใ‹ใ—ใ‚‡ใ†ใŒใ„" + @ja-Hira
+ rdfs:label + "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_14_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100056
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018901
skos:prefLabel - "้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100140 +
http://nanbyodata.jp/ontology/NANDO_2200232 (rdf:type owl:Class @@ -84077,41 +131872,79 @@

hasNotificationNumber4
+ dcterms:description + "ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒ็„กใๅทฆๅฎคใ€ใพใŸใฏไธกๅฟƒๅฎคใŒๆ‹กๅผตใ—ใ€ๅŽ็ธฎ่ƒฝใŒไฝŽไธ‹ใ—ใฆใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎๅค‰ๆ€งใ€็ทš็ถญๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚" + @ja
dcterms:identifier2100140NANDO:2200232
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_15_019_01.pdf
rdfs:label - "Disorders of sex development" + "Dilated cardiomyopathy" @en
rdfs:label - "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + "ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00294
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_15_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100057
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005021
skos:prefLabel - "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100141 +
http://nanbyodata.jp/ontology/NANDO_2200233 (rdf:type owl:Class @@ -84119,69 +131952,86 @@

- dcterms:identifier2100141hasNotificationNumber20
- rdfs:label + dcterms:description - "ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜" + "ๅทฆๅฎคใฎๆ‹กๅผต้šœๅฎณใ‚’่ชใ‚ใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ๅทฆๅฎคใฎๅŽ็ธฎ่ƒฝใฏใปใผไฟใŸใ‚Œใ€ๅทฆๅฎคๆ‹กๅคงใฏใชใ„ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ่‚ฅๅคงใ€็ทš็ถญๅŒ–ใชใฉ้ž็‰น็•ฐ็š„ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ใ„ใฃใŸใ‚“ๆœ‰็—‡็Šถใซใชใ‚‹ใจ็—…ๆ…‹ๆ‚ชๅŒ–ใฎ้€ฒ่กŒใฏ้€Ÿใใ€ๅฟƒ็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109
- - - - - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100142 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100142NANDO:2200233
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_16_020_01.pdf
rdfs:label - "Glucagonoma" + "Restrictive cardiomyopathy" @en
rdfs:label - "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" + "ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200292
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_16_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100058
+ skos:altLabel + "Restricted cardiomyopathy" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005201
skos:prefLabel - "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" + "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100143 +
http://nanbyodata.jp/ontology/NANDO_2200234 (rdf:type owl:Class @@ -84189,41 +132039,86 @@

hasNotificationNumber35
+ dcterms:description + "ๅ…ˆๅคฉๆ€งใพใŸใฏๅพŒๅคฉๆ€งใซๅฟƒๅฎคใซใงใใŸๆ†ฉๅฎค็”จใฎ่†จ้š†ใ€‚่†จ้š†้ƒจใฎๅฃใฏๅฟƒๅ†…่†œใ€ๅฟƒ็ญ‹ใ€ๅฟƒๅค–่†œใฎ๏ผ“ๅฑคๆง‹้€ ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€็ทš็ถญๅŒ–็ต„็น”ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏๅ‰่€…ใŒๅคšใใ€ๅฟƒ็ญ‹ๆข—ๅกžๅพŒใฎๅฟƒ็ญ‹ๅฃŠๆญปใซ่ตทๅ› ใ™ใ‚‹ใจใใฏใ€ๅพŒ่€…ใŒๅคšใ„ใ€‚็ ด่ฃ‚ใฎใƒชใ‚นใ‚ฏใŒใ‚ใ‚Šใ€ๅณๅฎคๆ†ฉๅฎคใฏๆ‰‹่ก“้ฉๅฟœใŒใ‚ใ‚Œใฐๆ‰‹่ก“ใ€ๅทฆๅฎค็˜คใฏๆ‰‹่ก“ๅ›ฐ้›ฃใง้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคๅˆ‡้™คๅพŒใซ็ธซๅˆ้ƒจ็˜ข็—•ใ‹ใ‚‰ไธๆ•ด่„ˆใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคใฎ้Žๅˆ‡้™คใงๅฟƒไธๅ…จใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็”Ÿๆถฏใฎ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ไบˆๅพŒใฏไธๆ˜Žใ€‚" + @ja
dcterms:identifier2100143NANDO:2200234
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_17_021_01.pdf
rdfs:label - "hyperinsulinaemic hypoglycaemia" + "Aneurysm of ventricle" @en
rdfs:label - "้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" + "ใ—ใ‚“ใ—ใคใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎค็˜ค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_17_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100059
+ skos:altLabel + "diverticulum of ventricle" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006779
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015677
skos:prefLabel - "้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" + "ๅฟƒๅฎค็˜ค" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100144 +
http://nanbyodata.jp/ontology/NANDO_2200235 (rdf:type owl:Class @@ -84231,46 +132126,79 @@

hasNotificationNumber45
+ dcterms:description + "๏ผ‘ใคใ‚ใ‚‹ใ„ใฏใใ‚ŒไปฅไธŠใฎๅฟƒๅฎคใชใ‚‰ใณใซๅฟƒๆˆฟใซใ€่† ๅŽŸ็ทš็ถญใŠใ‚ˆใณๅผพๆ€ง็นŠ็ถญใฎๅข—็”ŸใซๅŸบใฅใๅฟƒๅ†…่†œใฎ่‚ฅๅŽšใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใ€‚็ขบๅฎš่จบๆ–ญใฏใ€็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใงใ€ใณใพใ‚“ๆ€งใซๅฟƒๅ†…่†œ่‚ฅๅŽšใ‚’่ชใ‚ใ‚‹ใ€‚้ซ˜ๅบฆใฎๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆธ›ๅฐ‘ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100144NANDO:2200235
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_18_022_01.pdf
rdfs:label - "Vitamin d-dependent rickets" + "Endocardial fibroelastosis" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" + "ใ—ใ‚“ใชใ„ใพใใ›ใ‚“ใ„ใ ใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01143http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2155
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_18_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100060
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009169
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" + "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100145 +
http://nanbyodata.jp/ontology/NANDO_2200236 (rdf:type owl:Class @@ -84278,41 +132206,74 @@

hasNotificationNumber36
+ dcterms:description + "ๅฟƒๆˆฟใ€ๅฟƒๅฎคใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ€‚่‰ฏๆ€งใŒๅคšใใ€ๆ‚ชๆ€งใฏๅฐ‘ใชใ„ใŒ๏ผˆ10๏ผ…๏ผ‰ใ€่‰ฏๆ€งใงใ‚‚ๅฟƒๆฉŸ่ƒฝใซๆ‚ชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆจช็ด‹็ญ‹็จฎใ€็ทš็ถญ่…ซใ€็ฒ˜ๆถฒ่…ซใ€ๅฅ‡ๅฝข่…ซใ€่„‚่‚ช่…ซใ€่‚‰่…ซใชใฉใŒใ‚ใ‚‹ใ€‚ๆจช็ด‹็ญ‹็จฎใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ๅณๅฎคใ€ๅทฆๅฎคใซๅคš็™บๆ€งใฎใ“ใจใŒๅคšใ„ใ€‚็ทš็ถญ่…ซใฏใ€ๅณๅฎคใ€ๅทฆๅฎคใซ็™บ็”Ÿใ—ใ€็ช็„ถๆญปใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚็ฒ˜ๆถฒ่…ซใฏๅฟƒๆˆฟใซ็™บ็”Ÿใ—ใ€็Ÿญ่ŒŽใ‚’ๆœ‰ใ—ใฆๅฟƒๆˆฟๅ†…ใซ็ชๅ‡บใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆ‘˜ๅ‡บๅฏ่ƒฝใช้ƒจไฝใ€ๅคงใใ•ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใฆใ‚‚ๆ‰‹่ก“ใŒใงใใชใ„ไพ‹ใงใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100145NANDO:2200236
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_19_023_01.pdf
rdfs:label - "Vitamin d resistant osteomalacia" + "Cardiac tumor" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + "ใ—ใ‚“ใžใ†ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒ่‡“่…ซ็˜" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_19_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100061
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021209
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + "ๅฟƒ่‡“่…ซ็˜" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100146 +
http://nanbyodata.jp/ontology/NANDO_2200237 (rdf:type owl:Class @@ -84320,41 +132281,74 @@

hasNotificationNumber92
+ dcterms:description + "ๆ•ฐใƒถๆœˆไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅฟƒ็ญ‹็‚Žใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’่ชใ‚ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ๅž‹ใจใ€ๆ€ฅๆ€งๅฟƒ็ญ‹็‚ŽใŒ้ทๅปถใ™ใ‚‹ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100146NANDO:2200237
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_20_024_01.pdf
rdfs:label - "Primary hypophosphataemic rickets" + "Chronic myocarditis" @en
rdfs:label - "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_20_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100062
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004496
skos:prefLabel - "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" + "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100147 +
http://nanbyodata.jp/ontology/NANDO_2200238 (rdf:type owl:Class @@ -84362,41 +132356,74 @@

hasNotificationNumber93
+ dcterms:description + "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ‚†ใฃใใ‚Šใจใ—ใŸๅฟƒๅšขๆถฒใฎๅข—ๅคง๏ผˆๆตธๅ‡บๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚„ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒใ‚ฟใƒณใƒใƒŠใƒผใƒ‡ใจใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆ…ขๆ€งๅฟƒ่†œ็‚Žใฎไธ€็จฎใงใ‚ใ‚‹ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Žใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100147NANDO:2200238
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_21_025_01.pdf
rdfs:label - "Lipodystrophy" + "Chronic pericarditis" @en
rdfs:label - "่„‚่‚ช็•ฐๆ „้คŠ็—‡๏ผˆ่„‚่‚ช่Ž็ธฎ็—‡๏ผ‰" + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใพใใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_21_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100063
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005904
skos:prefLabel - "่„‚่‚ช็•ฐๆ „้คŠ็—‡๏ผˆ่„‚่‚ช่Ž็ธฎ็—‡๏ผ‰" + "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100148 +
http://nanbyodata.jp/ontology/NANDO_2200239 (rdf:type owl:Class @@ -84404,41 +132431,74 @@

hasNotificationNumber25
+ dcterms:description + "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆœ‰็—‡็Šถใฎๅ ดๅˆใฏใ€ๅค–็ง‘็š„ใซๅฟƒ่†œๅˆ‡้™คใ‚’ใŠใ“ใชใ†ใ€‚ๆœฌ็—‡ใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100148NANDO:2200239
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_22_026_01.pdf
rdfs:label - "Multiple endocrine neoplasia" + "Constrictive pericarditis" @en
rdfs:label - "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" + "ใ—ใ‚…ใ†ใ—ใ‚…ใใ›ใ„ใ—ใ‚“ใพใใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_22_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100064
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006711
skos:prefLabel - "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" + "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100149 +
http://nanbyodata.jp/ontology/NANDO_2200240 (rdf:type owl:Class @@ -84446,46 +132506,79 @@

hasNotificationNumber53
+ dcterms:description + "ๅ…ˆๅคฉ็š„ใซๅฟƒ่†œใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€้ƒจๅˆ†ๆฌ ๆใงใฏใ€ๅฟƒ่€ณใŒๅตŒ้ “ใ—ใŸใ‚Šใ€ๅ† ๅ‹•่„ˆใŒๅœง่ฟซใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใจ่ƒธ็—›ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅตŒ้ “ใฎๅฑ้™บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100149NANDO:2200240
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_23_027_01.pdf
rdfs:label - "Polycystic ovary syndrome" + "Congenital defect of the pericardium" @en
rdfs:label - "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚“ใพใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01739https://www.shouman.jp/disease/details/04_23_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100065
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020454
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020455
skos:prefLabel - "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100150 +
http://nanbyodata.jp/ontology/NANDO_2200241 (rdf:type owl:Class @@ -84493,41 +132586,69 @@

hasNotificationNumber76
+ dcterms:description + "ๆœฌ็—‡ใฏใ€็”Ÿๆฅๅฅๅบทใชไนณๅ…ใซใ€ๆ•ฐๆ—ฅใฎๆ„Ÿๅ†’ๆง˜ใฎๅ‰้ง†็—‡็Šถใซๅผ•ใ็ถšใ„ใฆ็ช็„ถใซๅƒงๅธฝๅผใฎ่…ฑ็ดขใŒๆ–ญ่ฃ‚ใ—ใ€็™บ็—‡ใจๅŒๆ™‚ใซๆ€ฅ้€Ÿใซๅ‘ผๅธๅพช็’ฐไธๅ…จใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ4-6ใƒถๆœˆใซไนณๅ…ใซๅคšใใ€ๆ˜ฅใ‹ใ‚‰ๅคใซใ‹ใ‘ใฆๅฅฝ็™บใ—ใ€ๅ ฑๅ‘Šไพ‹ใฎใปใจใ‚“ใฉใŒๆ—ฅๆœฌไบบไนณๅ…ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผใซใ‚ˆใ‚Šๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚Œใ€ๅฐ‚้–€ๆ–ฝ่จญใง้ฉๅˆ‡ใชๅฟƒ่‡“ๅค–็ง‘ๆฒป็™‚ใŒใชใ•ใ‚Œใชใ„ใจใ€ๆ€ฅๆ€งๅทฆๅฟƒไธๅ…จใซใ‚ˆใ‚Š็ŸญๆœŸ้–“ใซๆญปใซ่‡ณใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใพใŸๅค–็ง‘ๆ‰‹่ก“ใซใ‚ˆใ‚Šๆ•‘ๅ‘ฝใ—ๅพ—ใŸๅ ดๅˆใ‚‚ใ€ๆฉŸไผšๅผ็ฝฎๆ›่ก“ใ‚’ไฝ™ๅ„€ใชใใ•ใ‚Œใ‚‹ใ€้บๆฎ‹ใ™ใ‚‹ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใซใ‚ˆใ‚Šๅฟƒไธๅ…จใ‚„ไธๆ•ด่„ˆใ‚’็ถš็™บใ™ใ‚‹ใ€่ก“ๅ‰ใฎใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใชใฉใ€ๅญใฉใ‚‚ใŸใกใฎ็”Ÿๆถฏใซใ‚ใŸใ‚‹้บๆฎ‹็—‡ใ‚„็ถš็™บ็—‡ใ‚’ใใŸใ™ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ›ฝๅ†…ๅค–ใฎๅฐๅ…็ง‘ใฎๆ•™็ง‘ๆ›ธใซๆœชใ ่จ˜่ผ‰ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšใใฎๅฐๅ…็ง‘ๅŒปใฏๆœฌ็–พๆ‚ฃใฎๅญ˜ๅœจใ‚’ๅๅˆ†ใซ่ช่ญ˜ใ—ใฆใ„ใชใ„ใŸใ‚ใ€ๆ€ฅๆ€งๆœŸใ ใ‘ใงใชใ้ ้š”ๆœŸใฎ็—…ๆ…‹ใฎๅฎŸๆ…‹ใ‚’ๆญฃ็ขบใซๆŠŠๆกใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅบƒใๆƒ…ๅ ฑใ‚’ๅฐๅ…็ง‘ๅŒปใ‚„ๅ†…็ง‘ๅŒปใซๆไพ›ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100150NANDO:2200241
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_24_028_01.pdf
rdfs:label - "Other endocrine disease" + "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants" @en
rdfs:label - "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค" + "ใซใ‚…ใ†ใ˜ใจใใฏใคใ›ใ„ใใ†ใผใ†ในใ‚“ใ‘ใ‚“ใ•ใใ ใ‚“ใ‚Œใค" + @ja-Hira
+ rdfs:label + "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_24_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100109http://nanbyodata.jp/ontology/NANDO_2100066
skos:prefLabel - "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค" + "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100151 +
http://nanbyodata.jp/ontology/NANDO_2200242 (rdf:type owl:Class @@ -84535,41 +132656,74 @@

hasNotificationNumber10
+ dcterms:description + "ๆญฃๅธธใชใ‚‰ใ€ๅทฆๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚็”ŸๅพŒใฏๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใซใชใ‚‹ใŸใ‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฏใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€่กŒใ‚’ไป‹ใ—ใฆใ—ใ‹ๆฝ…ๆตใ•ใ‚Œใชใใชใ‚‹ใ€‚ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฎ่™š่ก€ใฎใŸใ‚ใซใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚„ใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡้กžไผผใฎๅทฆๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใชใฉใŒ่ตทใ“ใ‚‹ใ€‚ๆฒป็™‚ใ•ใ‚Œใชใ‘ใ‚Œใฐไนณๅนผๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ๅž‹ใจใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€็ฎกใŒ็™บ้”ใ—ใฆๅฟƒ็ญ‹่™š่ก€ใŒ็›ฎ็ซ‹ใŸใชใ„ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ใฉใกใ‚‰ใฎๅž‹ใซใ—ใฆใ‚‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใฉๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ๅทฆๅฎคๆฉŸ่ƒฝไธๅ…จใชใฉใ‚ใ‚Œใฐใ€ใใ‚Œใซๅฏพใ™ใ‚‹ๅ†…็ง‘็š„ๆฒป็™‚๏ผˆๅˆฉๅฐฟ่–ฌใชใฉ๏ผ‰ใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100151NANDO:2200242
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_25_029_01.pdf
rdfs:label - "Collagen disease" + "Abnormal origin of left coronary artery from pulmonary artery" @en
rdfs:label - "่† ๅŽŸ็—…" + "ใฒใ ใ‚Šใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_25_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100067
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000811
skos:prefLabel - "่† ๅŽŸ็—…" + "ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100152 +
http://nanbyodata.jp/ontology/NANDO_2200243 (rdf:type owl:Class @@ -84577,41 +132731,69 @@

hasNotificationNumber11
+ dcterms:description + "ๆญฃๅธธใชใ‚‰ใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใฏ่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใŸใ‚ใ€ๅณๅ† ๅ‹•่„ˆ้‚„ๆตๅŸŸใฎ่™š่ก€ใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใชใ‚‰็ตŒ้Ž่ฆณๅฏŸใ—ใฆใ‚‚ใ„ใ„ใจใฎๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใŒใ€็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€็„ก็—‡็Šถใงใ‚‚ๆ‰‹่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ๅณๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใ„ใ—็ต็ดฎ่ก“ใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100152NANDO:2200243
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_25_030_01.pdf
rdfs:label - "Collagen disease disease" + "Abnormal origin of right coronary artery from pulmonary artery" @en
rdfs:label - "่† ๅŽŸ็—…็–พๆ‚ฃ" + "ใฟใŽใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_25_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100151http://nanbyodata.jp/ontology/NANDO_2100067
skos:prefLabel - "่† ๅŽŸ็—…็–พๆ‚ฃ" + "ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100153 +
http://nanbyodata.jp/ontology/NANDO_2200244 (rdf:type owl:Class @@ -84619,74 +132801,69 @@

- dcterms:identifier2100153hasNotificationNumber12
- rdfs:label + dcterms:description - "่ก€็ฎก็‚Ž็—‡ๅ€™็พค" + "ๅทฆๅ† ๅฐ–ใ‹ใ‚‰ๅทฆๅ† ๅ‹•่„ˆใŒใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใŒๅ‡บใ‚‹ใฎใŒๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใใ‚Œไปฅๅค–ใฎๅฝขๆ…‹ใ‚’ๅ…จใฆๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใจใ„ใ†ใ€‚ๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใฏๅˆฅ้ …ใงๆ‰ฑใ†ใ€‚ๅ˜ไธ€ๅ† ๅ‹•่„ˆใ€ๅทฆๅ† ๅ‹•่„ˆๆดž๏ผˆๅทฆๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅณๅ† ๅ‹•่„ˆ่ตทๅง‹ใ€ๅณๅ† ๅ‹•่„ˆๆดž๏ผˆๅณๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅทฆๅ† ๅ‹•่„ˆ่ตทๅง‹ใŒใ‚ใ‚‹ใ€‚่ตทๅง‹็•ฐๅธธใฎๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใจไธป่‚บๅ‹•่„ˆใจใฎ้–“ใ‚’่ตฐ่กŒใ™ใ‚‹ใ“ใจใงใ€ๅฟƒ็ญ‹่™š่ก€ใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚’่ตทใ“ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100151
- - - - - + + + + + + "29ใŠใ‚ˆใณ30ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ—ใ„ใ˜ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100154 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100154NANDO:2200244
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_25_031_01.pdf
rdfs:label - "Relapsing polychondritis" - @en
rdfs:label - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" + "29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" @ja
+ rdfs:label + "Other anomalous origin of coronary artery" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01758https://www.shouman.jp/disease/details/04_25_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100151http://nanbyodata.jp/ontology/NANDO_2100067
skos:prefLabel - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" + "29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100155 +
http://nanbyodata.jp/ontology/NANDO_2200245 (rdf:type owl:Class @@ -84694,41 +132871,69 @@

hasNotificationNumber5
+ dcterms:description + "ๅทๅดŽ็—…ใซๅˆไฝตใ™ใ‚‹ๅ† ๅ‹•่„ˆ็˜คใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใฎ่จบๆ–ญใฏใ€ๆ—ฅๆœฌๅทๅดŽ็—…ๅญฆไผšใฎ่จบๆ–ญใฎๆ‰‹ๅผ•ใ๏ผˆhttp://www.jskd.jp/info/tebiki.html๏ผ‰ใซ่จ˜่ผ‰ใŒใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใซๅˆไฝตใ—ใŸๅ† ๅ‹•่„ˆ็˜คใซใคใ„ใฆใฏใ€ๆ—ฅๆœฌๅพช็’ฐๅ™จๅญฆไผšใซใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผˆๅทๅดŽ็—…ๅฟƒ่‡“่ก€็ฎกๅพŒ้บ็—‡ใฎ่จบๆ–ญๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผ‰ใŒใ‚ใ‚‹ ๏ผˆhttp://www.j-circ.or.jp/guideline/pdf/JCS2013_ogawas_h.pdf๏ผ‰ใ€‚ๅทๅดŽ็—…ใฏๅŽŸๅ› ไธๆ˜Žใฎๅ…จ่บซๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‰นใซๅ† ๅ‹•่„ˆใฎ็‚Ž็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…็™บ็—‡ๅพŒ6ใ€œ8ๆ—ฅ้ ƒใ€ๅ‹•่„ˆใฎๅ†…่†œใŠใ‚ˆใณๅค–่†œใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใŒใŠใ“ใ‚‹ใ€‚10็—…ๆ—ฅ้ ƒใ€ๅ‹•่„ˆๅฃๅ…จๅฑคใฎ็‚Ž็—‡ใจใชใ‚Šใ€ๅ‹•่„ˆใฎๆ‹กๅผตใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚ŒใŒๆ‚ชๅŒ–ใ™ใ‚‹ใจ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚็˜คๅ†…ใฎ่ก€ๆ “ใฎไบˆ้˜ฒใฎ็›ฎ็š„ใงใ€ๆŠ—่ก€ๆ “ใ€ๆŠ—ๅ‡ๅ›บ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚็˜คใฎ็‹ญ็ช„ใซๅฏพใ—ใฆใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚„ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100155NANDO:2200245
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_26_032_01.pdf
rdfs:label - "Skin and connective tissue disease" + "Coronary aneurysms complicated with Kawasaki disease" @en
rdfs:label - "็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ" + "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_26_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100151http://nanbyodata.jp/ontology/NANDO_2100068
skos:prefLabel - "็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ" + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100156 +
http://nanbyodata.jp/ontology/NANDO_2200246 (rdf:type owl:Class @@ -84736,41 +132941,74 @@

hasNotificationNumber6
+ dcterms:description + "ๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใธใฎ้–‹ๅฃ้ƒจใง้–‰้Ž–ใ‚ใ‚‹ใ„ใฏ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ๅทฆๅ† ๅ‹•่„ˆใซๅคšใใ€ๅ˜็‹ฌใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใจๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ‚„ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใซๅˆไฝตใ—ใฆ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใŒใคใๆฌก็ฌฌใ€้–‰้Ž–ใฎๅฝขๆ…‹ใซๅฟœใ˜ใฆใ€่†œๆง˜็‰ฉใฎๅˆ‡้™คใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใชใฉใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100156NANDO:2200246
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_27_033_01.pdf
rdfs:label - "autoinflammatory disease" + "Stenosis or atresia of coronary artery" @en
rdfs:label - "่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" + "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_27_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100151http://nanbyodata.jp/ontology/NANDO_2100069
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006715
skos:prefLabel - "่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" + "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100157 +
http://nanbyodata.jp/ontology/NANDO_2200247 (rdf:type owl:Class @@ -84778,41 +133016,74 @@

hasNotificationNumber15
+ dcterms:description + "่ƒธ็—›ๆ™‚ใซๅฟƒ้›ปๅ›ณใงSTไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใŸใ ใ—ใ€็„ก็—‡ๅ€™ๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใŒ้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใง่จผๆ˜Žใ•ใ‚Œใ€ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่™š่ก€ใŒ่จผๆ˜Žใ•ใ‚ŒใŸๅ ดๅˆใ‚’ใ„ใ†ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100157NANDO:2200247
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_28_034_01.pdf
rdfs:label - "Diabetes" + "Angina pectoris" @en
rdfs:label - "็ณ–ๅฐฟ็—…" + "ใใ‚‡ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‹ญๅฟƒ็—‡" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01632
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_28_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100070
skos:prefLabel - "็ณ–ๅฐฟ็—…" + "็‹ญๅฟƒ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100158 +
http://nanbyodata.jp/ontology/NANDO_2200248 (rdf:type owl:Class @@ -84820,41 +133091,79 @@

hasNotificationNumber16
+ dcterms:description + "ๅฟƒ็ญ‹ๆข—ๅกžใฏใ€ๆ€ฅๆฟ€ใชๅ† ๅ‹•่„ˆ่ก€ๆตใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šๅฟƒ็ญ‹ๅฃŠๆญปใซใ„ใŸใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจไธๅฟซๆ„Ÿใ€ใ‚ทใƒงใƒƒใ‚ฏใชใฉ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใจใ€็„ก็—‡ๅ€™ๆ€งใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€ๅฟƒ้›ปๅ›ณใงใฎ็ตŒๆ™‚็š„ๅค‰ๅŒ–ใŒใ‚ใ‚‹ใ€‚้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใงๅ† ๅ‹•่„ˆ็‹ญ็ช„ใ€้–‰ๅกžใฎๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่ก€ๆตใŒไฝŽไธ‹ใ—ๅ†็ŒๆตใŒ็„กใ„ใ€‚็™บ็—‡ๆ—ฉๆœŸใชใ‚‰ใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ๆบถ่งฃ็™‚ๆณ•ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅ† ๅ‹•่„ˆๆ‹กๅผตใ‚’ใŠใ“ใชใ†ใ€‚ใใฎๅพŒใฎๆ…ขๆ€งๆœŸใซใฏใ€็—…ๆ…‹ใจ้ฉๅฟœใซๅฟœใ˜ใฆใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ€ๅฟƒไธๅ…จๆฒป็™‚ใชใฉใ‚’่กŒใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100158NANDO:2200248
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_28_035_01.pdf
rdfs:label - "Diabetes" + "Myocardial infarction" @en
rdfs:label - "็ณ–ๅฐฟ็—…" + "ใ—ใ‚“ใใ‚“ใ“ใ†ใใ" + @ja-Hira
+ rdfs:label + "ๅฟƒ็ญ‹ๆข—ๅกž" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01730
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_28_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100157http://nanbyodata.jp/ontology/NANDO_2100070
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005068
skos:prefLabel - "็ณ–ๅฐฟ็—…" + "ๅฟƒ็ญ‹ๆข—ๅกž" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100159 +
http://nanbyodata.jp/ontology/NANDO_2200249 (rdf:type owl:Class @@ -84862,41 +133171,79 @@

hasNotificationNumber22
+ dcterms:description + "ๅทฆๅฟƒๆˆฟใ€ๅทฆๅฟƒๅฎคใ€ไธŠ่กŒๅคงๅ‹•่„ˆใ€ๅคงๅ‹•่„ˆๅผ“ใซใ„ใŸใ‚‹ๅทฆๅฟƒ็ณปใฎไฝŽๅฝขๆˆใจใ€ๅƒงๅธฝๅผใ€ๅคงๅ‹•่„ˆๅผใฎไฝŽๅฝขๆˆใ€็‹ญ็ช„ใ€ใชใ„ใ—้–‰้Ž–ใ‚’ใจใ‚‚ใชใ†็–พๆ‚ฃใ€‚็”ŸๅพŒใฏใ€่ก€่กŒๅ‹•ๆ…‹ไธŠใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใจๅฟƒๆˆฟ้–“ไบค้€šใŒ็”Ÿๅ‘ฝ็ถญๆŒใซไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚็”ŸๅพŒใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€้ซ˜ๅบฆๅฟƒไธๅ…จใ‚’ใจใ‚‚ใชใ†ใ€‚ๆ‰‹่ก“ใซใ‚ˆใฃใฆใ‚‚ๅณๅฎคใ‚’ไฝ“ๅฟƒๅฎคใจใ—ใŸFontanๆ‰‹่ก“ใงใ—ใ‹ไฟฎๅพฉใงใใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ปๅบฆใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ1.4๏ฝž3.8๏ผ…ใงใ€็ฉๆฅต็š„ๆฒป็™‚ใ‚’ใ—ใชใ„ๅ ดๅˆใ€ๅคงๅŠใฏ1ใ‹ๆœˆไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅ† ่ก€ๆตใ‚’ๅซใ‚ใ€ไฝ“่ก€ๆตใŒๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅ‹•่„ˆ็ฎกใฎ้–‰้Ž–ใฏใ—ใฐใ—ใฐ่‡ดๅ‘ฝ็š„ใจใชใ‚‹ใ€‚ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใซใ‚ˆใ‚Šductal shock ใ‚’ไบˆ้˜ฒใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ใ“ใ‚Œใซใ‚ˆใ‚Šๅง‘ๆฏๆ‰‹่ก“ใพใงๆ‚ฃๅ…ใ‚’่‰ฏๅฅฝใช็Šถๆ…‹ใซไฟใฆใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ใฏๆ–ฐ็”Ÿๅ…ๆœŸใซNorwoodๆ‰‹่ก“๏ผˆ+Blalock-Taussig็Ÿญ็ตก่ก“ใพใŸใฏๅณๅฎคโ€”่‚บๅ‹•่„ˆ็Ÿญ็ตก่ก“๏ผ‰ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใง็ถญๆŒใ€ใพใŸใฏไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎกใซใ‚นใƒ†ใƒณใƒˆ็•™็ฝฎใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซไธกๆ–นๅ‘ๆ€งGlennๆ‰‹่ก“ใ€ๅนผๅ…ๆœŸใซใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100159NANDO:2200249
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_29_036_01.pdf
rdfs:label - "Inborn errors of metabolism" + "Hypoplastic left heart syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ" + "ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200705
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_29_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100071
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004933
skos:prefLabel - "ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ" + "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100160 +
http://nanbyodata.jp/ontology/NANDO_2200250 (rdf:type owl:Class @@ -84904,41 +133251,79 @@

hasNotificationNumber68
+ dcterms:description + "ๅฝขๆ…‹ๅญฆ็š„ใ€่ก€่กŒๅ‹•ๆ…‹็š„ใซใ€ใฒใจใคใฎๅฟƒๅฎคใ—ใ‹ๅญ˜ๅœจใ—ใชใ„ใ‚‚ใฎใ€‚ใŸใ ใ—ใ€็—•่ทก็š„ใซใ‚‚ใ†ใฒใจใคใฎๅฟƒๅฎคใŒๅญ˜ๅœจใ—ใฆใ‚‚ใ‚ˆใ„ใ€‚็—•่ทก็š„ๅฟƒๅฎคใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใซใฏใ€ใใฎ็—•่ทก็š„ๅฟƒๅฎคใซใฏๆˆฟๅฎคๅผไป˜ๅฑžๅ™จใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ๅทฆๅฎคๅž‹ๅ˜ๅฟƒๅฎคใจๅณๅฎคๅž‹ๅ˜ๅฟƒๅฎคใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใŒๅ›ฐ้›ฃใช็–พๆ‚ฃใฎใฒใจใคใงใ‚ใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅค–็ง‘ๆฒป็™‚ใฎ้€ฒๆญฉใงไบˆๅพŒใŒๆ”นๅ–„ใ•ใ‚ŒใฆใใŸใ€‚่‚บ่ก€ๆตใฎๅคšๅฏกใ‚„่‚บ้™่„ˆใฎ็‹ญ็ช„ใซใ‚ˆใ‚Š่ก€่กŒๅ‹•ๆ…‹ใฏ็•ฐใชใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่‚บ่ก€ๆตใฎๅคšๅฐ‘ใซใ‚ˆใ‚Šไธ‰็พคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚1. ่‚บ่ก€ๆตๅข—ๅŠ ็พคใƒใ‚ขใƒŽใƒผใ‚ผใฏ่ปฝใ„ใŒใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆๅฟƒไธๅ…จใ‚’ๆฅใŸใ—ไบˆๅพŒไธ่‰ฏใชใ‚‚ใฎใŒๅคšใ„ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏๅฟƒไธๅ…จ็—‡็ŠถใŒไธปใงใ‚ใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฏ็›ฎ็ซ‹ใŸใชใ„ใ€‚ๅคงๅ‹•่„ˆๆตๅ‡บ่ทฏใฎ้–‰ๅกžๆ€ง็—…ๅค‰๏ผˆ็ƒๅฎคๅญ”็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใƒป้–‰้Ž–๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚2. ่‘—ใ—ใ„่‚บ่ก€ๆตๆธ›ๅฐ‘็พค้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„้–‰้Ž–ใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Š่‘—ๆ˜Žใชใƒใ‚ขใƒŽใƒผใ‚ผใŒ็พใ‚ŒไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹่ซธ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚Œใฐๅคšใใฏไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ใ€‚้‡ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎๅˆไฝตใงใฏใ€ๅณๅฎคๆ€งๅ˜ๅฟƒๅฎคใจใใซ่‡“ๅ™จๅฟƒๆˆฟ้Œฏไฝใซๅคšใใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใง็™บ็—‡ใ—ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใซใ‚ˆใ‚‹ๅŽ็ธฎๆ€ง้ง†ๅ‡บๆ€ง้›‘้Ÿณใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใซใ‚ˆใ‚‹้€ฃ็ถšๆ€ง้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚3. ้ฉๅบฆใช่‚บ่ก€ๆตใ‚’็คบใ™็พคไธญ็ญ‰ๅบฆไปฅไธ‹ใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใ€่‡จๅบŠ็š„ใซใฏใปใจใ‚“ใฉใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใชใ„ใ‹่ปฝๅบฆใงใ‚ใ‚‹ใ€‚้‹ๅ‹•่ƒฝใฏ่‰ฏใไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๆ‰‹่ก“็„กใ—ใงไธญๅนดๆœŸใพใง็”Ÿๅญ˜ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไปฅไธŠใฎ๏ผ“็พคใฎใฉใ‚Œใงใ‚ใฃใฆใ‚‚ใ€ๅŸบๆœฌ็š„ใซใฏใ€ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏใ€ๅฟƒๅฎคไธญ้š”ๅฝขๆˆ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ้•ทๆœŸไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100160NANDO:2200250
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_30_037_01.pdf
rdfs:label - "Disorder of amino acid metabolism" + "Single ventricle" @en
rdfs:label - "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ˜ๅฟƒๅฎค็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200704
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_30_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100072
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015451
skos:prefLabel - "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ๅ˜ๅฟƒๅฎค็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100161 +
http://nanbyodata.jp/ontology/NANDO_2200251 (rdf:type owl:Class @@ -84946,41 +133331,84 @@

hasNotificationNumber24
+ dcterms:description + "ไธ‰ๅฐ–ๅผๅฃใŒ็ญ‹ๆ€ง้–‰้Ž–ใ—ใฆๅฟƒๆˆฟใจๅณๅฟƒๅฎคใฎไบค้€šใŒ้ฎๆ–ญใ•ใ‚ŒใŸๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅณๅฟƒๆˆฟใธ้‚„ใฃใฆใใŸ้™่„ˆ่ก€ใฏๅ…จใฆๅฟƒๆˆฟ้–“ไบค้€šใ‚’้€šใ‚Šๅทฆๅฟƒๆˆฟใธๆตใ‚Œใ€ๆฉŸ่ƒฝ็š„ใชๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใฎๆœ‰็„กใจๅฟƒๅฎคๅคง่ก€็ฎกใฎ้–ขไฟ‚ใงๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใชใ„ใจ่‚บ้ซ˜่ก€ๅœงใจใชใ‚‹ใ€‚ใ™ใชใ‚ใกใ€Keith-Edwardsใฎๅˆ†้กžใงใฏโ… ๅž‹ใฏๆญฃๅธธๅคง่ก€็ฎก้–ขไฟ‚ใ€โ…กๅž‹ใฏdๅž‹ๅคง่ก€็ฎก่ปขๆ›ใฎใ‚‚ใฎใจใชใ‚Šใ€ใใ‚Œใžใ‚Œใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ‚’ไผดใ†ใ‚‚ใฎใŒaๅž‹ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒbๅž‹ใ€่‚บ้ซ˜่ก€ๅœงใซใชใ‚‹cๅž‹ใจๅˆ†้กžใ•ใ‚Œใ€็ต„ใฟๅˆใ‚ใ›ใงโ… ๏ฝ‚ใชใฉใจ่กจ็พใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใฎๅž‹ใ‚‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ใชใใ™ใซใฏใ€Fontanๆ‰‹่ก“ใ—ใ‹ใชใ„ใ€‚Fontanๆ‰‹่ก“ใŒๆˆ็ซ‹ใ™ใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅญ˜็Ž‡ใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€Fontanๆ‰‹่ก“๏ผ’๏ผๅนดไปฅไธŠ็ตŒ้Žใ™ใ‚‹ใจใ€ๆง˜ใ€…ใชFontan่ก“ๅพŒ็—‡ๅ€™็พคใŒ็™บ็—‡ใ—ใฆใ€้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100161NANDO:2200251
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_31_038_01.pdf
rdfs:label - "Disorder of organic acid metabolism" + "Tricuspid atresia" @en
rdfs:label - "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200706
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4313
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_31_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100073
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011514
skos:prefLabel - "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100162 +
http://nanbyodata.jp/ontology/NANDO_2200252 (rdf:type owl:Class @@ -84988,41 +133416,91 @@

hasNotificationNumber84
+ dcterms:description + "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ใ€‚ใ„ใ‚ใ‚†ใ‚‹ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใฎๅฝขๆ…‹ใจใชใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใชใ„ใ—ใฏไธป่ฆไฝ“่‚บๅดๅ‰ฏ่ก€็ฎก๏ผˆMAPCA๏ผ‰ใง่ณ„ใ‚ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใพใŸใฏใ€ไฝ“่‚บๅดๅ‰ฏ่ก€็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€ใใ‚Œใ‚‰ใฎ่ก€็ฎกใฎ้–‹ๅญ˜็Šถๆณใซใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฎ็จ‹ๅบฆใซๅทฎใŒใ‚ใ‚‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚„ๅดๅ‰ฏ่ก€็ฎกใซใ‚ˆใ‚‹้€ฃ็ถšๆ€งๅฟƒ้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚ๅง‘ๆฏ่ก“ใจใ—ใฆใ€็ดฐใ„่‚บๅ‹•่„ˆใซๅฏพใ—็Ÿญ็ตก่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚MAPCAใŒๅคšๆ•ฐๅญ˜ๅœจใ—ๅŒบๅŸŸ่‚บๅ‹•่„ˆใ‚’ไธญๅฟƒ่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๅ ดๅˆใซใฏuniforcalization:UFใ‚’ๅฎŸๆ–ฝใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฎๆˆ้•ทใ‚’ๅพ…ใฃใฆใ€ๅฐ†ๆฅ็š„ใซใฏๅฟƒๅ†…ไฟฎๅพฉ่ก“ใจๅณๅฎคๆตๅ‡บ่ทฏๅ†ๅปบ่ก“๏ผˆRastelliๆณ•๏ผ‰ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Rastelliๆ‰‹่ก“ๅพŒใ‚‚ใ€้ ้š”ๆœŸใซๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใฃใŸใ‚Šใ€ไธๆ•ด่„ˆใ‚„ๅฟƒๆฉŸ่ƒฝไธๅ…จใซใชใฃใŸใ‚Šใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100162NANDO:2200252
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_32_039_01.pdf
rdfs:label - "Disorder of fatty-acid metabolism" + "Pulmonary atresia with ventricular septal defect" @en
rdfs:label - "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200708
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1324
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_32_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100074
+ skos:altLabel + "ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008343
skos:prefLabel - "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100163 +
http://nanbyodata.jp/ontology/NANDO_2200253 (rdf:type owl:Class @@ -85030,46 +133508,84 @@

hasNotificationNumber85
+ dcterms:description + "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„็Šถๆ…‹ใ‚’ใ€็ด”ๅž‹่‚บๅ‹•่„ˆ้–‰้Ž–ใจๅ‘ผใถใ€‚้‡็—‡่‚บๅ‹•่„ˆ็‹ญ็ช„ใจๅŒๆง˜ใซๅณๅฎคไฝŽๅฝขๆˆใ‚’ไผดใ†ใ“ใจใŒๅคšใ„๏ผˆๅณๅฎคไฝŽๅฝขๆˆ็—‡ๅ€™็พค๏ผ‰ใ€‚็”Ÿๅญ˜ใซใฏๅฟƒๆˆฟ้–“ไบค้€šใŒๅฟ…้ ˆใงๅณๆˆฟ่ก€ใฏๅทฆๆˆฟใธ่ฟ‚ๅ›žใ™ใ‚‹ใ€‚ใพใŸใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ€‚ๅณๅฎคใจๅ† ๅ‹•่„ˆใŒไบค้€šใ—ใฆใ„ใ‚‹้กžๆดžไบค้€šใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚้กžๆดžไบค้€šใซไผดใฃใฆใ€ๅ† ๅ‹•่„ˆใŒ็‹ญ็ช„ใ—ใŸใ‚Š้€”ไธญใง้€”็ตถใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ใใฎๅ ดๅˆใ€ๅ† ๅ‹•่„ˆ่ก€ๆตใฏ้ซ˜ใ„ๅณๅฎคๅœงใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100163NANDO:2200253
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_32_040_01.pdf
rdfs:label - "Mitochondrial disease" + "Pulmonary atresia with intact ventricular septum" @en
rdfs:label - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ‚ใชใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01427http://nanbyodata.jp/ontology/NANDO_1200707
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2918
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_32_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100074
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009931
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100164 +
http://nanbyodata.jp/ontology/NANDO_2200254 (rdf:type owl:Class @@ -85077,41 +133593,91 @@

hasNotificationNumber89
+ dcterms:description + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผˆtetralogy of Fallot๏ผ‰ใฎๅ››ๅพดใจใฏใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผˆVSD๏ผ‰ใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„๏ผˆPS๏ผ‰ใ€โ‘ขๅคงๅ‹•่„ˆ้จŽไน—ใ€โ‘ฃๅณๅฎค่‚ฅๅคงใ‚’ๆŒ‡ใ™ใ€‚็™บ็”Ÿๅญฆ็š„ใซใฏๅฟƒๅฎคไธญ้š”ใฎๆผๆ–—้ƒจใจใ„ใ†่‚บๅ‹•่„ˆใซ่ฟ‘ใ„้ƒจๅˆ†ใฎไธญ้š”ใŒๅ‰ๆ–น๏ผˆๅณๅฎคๅด๏ผ‰ใซๅไฝใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚ŠVSDใจPS๏ผˆๆญฃ็ขบใซ่จ€ใ†ใจๅณๅฎคใฎๆตๅ‡บ่ทฏ็‹ญ็ช„๏ผ‰ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใจใฎ้•ใ„ใฏใ€ๆœฌ็—‡ใงใฏๅƒงๅธฝๅผใจๅคงๅ‹•่„ˆๅผใฏ็ทš็ถญๆ€งใซ้€ฃ็ถšใ—ใฆใ„ใ‚‹็‚นใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅน…ๅบƒใ„่‡จๅบŠๅƒใ‚’็คบใ™ใŒใ€ไธๅฎ‰ๅฎšใ‹ใค้€ฒ่กŒๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใจใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅค–็ง‘ๆฒป็™‚ใชใ—ใงใฏ็”Ÿๅ‘ฝไบˆๅพŒใฏ1ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€3ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๆญปไบกๅŽŸๅ› ใจใ—ใฆใฏไฝŽ้…ธ็ด ็™บไฝœใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใงใ€ๅนด้•ทๅ…ใงใฏๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซๆ‰‹่ก“ไพ‹ใฎ้•ทๆœŸไบˆๅพŒใฏ่‰ฏๅฅฝใง่ก“ๅพŒ30ๅนดใฎ็”Ÿๅญ˜็Ž‡ใฏ98๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅ้™ใซใฏใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใงใ€ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใฃใŸใ‚Šใ€ๅฟƒไธๅ…จใซใชใฃใŸใ‚Šใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100164NANDO:2200254
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_33_041_01.pdf
rdfs:label - "Disorder of carbohydrate metabolism" + "Tetralogy of Fallot" @en
rdfs:label - "็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + "ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200709
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1513
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_33_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100075
+ skos:altLabel + "Fallotๅ››ๅพด็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008542
skos:prefLabel - "็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100165 +
http://nanbyodata.jp/ontology/NANDO_2200255 (rdf:type owl:Class @@ -85119,41 +133685,81 @@

hasNotificationNumber96
+ dcterms:description + "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ๅคงๅ‹•่„ˆใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใฏๅคงๅ‹•่„ˆใฎๅณๆจช๏ผˆside by side๏ผ‰ใ‹ๅณๅพŒ๏ผˆtrue Taussig Bing heart๏ผ‰ใฎใ“ใจใ‚„ใ€ๅณๅ‰๏ผˆfalse Taussig Bing heart๏ผ‰ใซใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡DORVใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฏๅฟƒๅฎคไธญ้š”ใซ้จŽไน—ใ—ใ€่‚บๅ‹•่„ˆๅผไธ‹ใซๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใฎโ…กๅž‹ใซ้กžไผผใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใจ่‚บๅ‹•่„ˆๅผไธ‹ใซconusใŒๅญ˜ๅœจใ™ใ‚‹๏ผˆdouble conus๏ผ‰ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅทฆๅฎคใฎ้ง†ๅ‡บ่ก€ใฏใ€็›ดๆŽฅ่‚บๅ‹•่„ˆใธ้ง†ๅ‡บใ•ใ‚Œใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅคง่ก€็ฎก่ปขๆ›ใจ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ‚„ใ™ใ„ใ€‚ๆ‰‹่ก“ใฏๅŸบๆœฌ็š„ใซใฏๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“๏ผˆJatene่ก“๏ผ‰ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ‰‹่ก“ใฎ้›ฃๆ˜“ๅบฆใฏ้ซ˜ใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100165NANDO:2200255
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_34_042_01.pdf
rdfs:label - "Lysosomal disease" + "Taussig-Bing anomaly" @en
rdfs:label - "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" + "ใŸใ†ใ˜ใฃใฒใƒปใณใ‚“ใใใ‘ใ„" + @ja-Hira
+ rdfs:label + "ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_34_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100076
+ skos:altLabel + "Taussig-Bingๅฅ‡ๅฝข" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018089
skos:prefLabel - "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" + "ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100166 +
http://nanbyodata.jp/ontology/NANDO_2200256 (rdf:type owl:Class @@ -85161,41 +133767,79 @@

hasNotificationNumber97
+ dcterms:description + "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ใฒใจใคใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€ไป–ใฎใฒใจใคใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…จๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ็ด„1.5๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง้€ฃ็ถšใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆVSDใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใจๅคง่ก€็ฎก็›ธไบ’ใฎไฝ็ฝฎ้–ขไฟ‚ใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใฏโ‘ ๅคงๅ‹•่„ˆๅผไธ‹subaortic โ‘ก่‚บๅ‹•่„ˆๅผไธ‹subpulmonic โ‘ขไธกๅŠๆœˆๅผไธ‹doubly committed(โ‘ ๏ผ‹โ‘ก) โ‘ฃ้ ไฝๅž‹remote(non-committed)ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅคง่ก€็ฎก้–ขไฟ‚ใฏdๅž‹ใ€lๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚Taussig๏ผBingๅฅ‡ๅฝขใฏไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใฎไธญใงใ€ไธกๅคง่ก€็ฎกใŒside by sideใซใชใ‚‰ใณใ€่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใฎใŸใ‚ใซ่‚บๅ‹•่„ˆใŒไธญ้š”ใซ้จŽไน—ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไผดใ‚ใชใ„ๅž‹ใงใ€ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ๅž‹ใงใฏPHใฎ้€ฒ่กŒใŒ้€šๅธธใฎVSDใ‚ˆใ‚Š้€Ÿใ„ใฎใงไนณๅ…ๆœŸใฎไธ€ๆœŸ็š„ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆœ›ใพใ—ใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใ‚ใ‚‹ๅž‹ใงใฏใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจๅŒๆง˜ใซ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใŒใ‚ใ‚Œใฐ็Ÿญ็ตก่ก“ใชใฉใฎๅง‘ๆฏ่ก“ใฎๅพŒใซRastelliๆ‰‹่ก“ใŒๅฎŸๆ–ฝใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹DORVใงใฏๅคง่ก€็ฎก่ปขๆ›็—‡ใจๅŒๆง˜ใซๅคง่ก€็ฎกใ‚นใ‚ฃใƒƒใƒ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้ ไฝๅž‹VSDใงใฏFontanๅž‹ๆ‰‹่ก“ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไธ€่ˆฌใซใ€ๆœฌ็—‡ใฏ้‡็—‡ใงใ€่ก“ๅพŒใฎๅ•้กŒใŒ็™บ็”Ÿใ™ใ‚‹็Ž‡ใ‚‚้ซ˜ใใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100166NANDO:2200256
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_34_043_01.pdf
rdfs:label - "Peroxisomal disease" + "Double outlet right ventricle" @en
rdfs:label - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" + "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200710
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_34_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100076
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018089
skos:prefLabel - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" + "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100167 +
http://nanbyodata.jp/ontology/NANDO_2200257 (rdf:type owl:Class @@ -85203,41 +133847,74 @@

hasNotificationNumber98
+ dcterms:description + "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใจใ‚‚ใซๅทฆๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏไธ‰ๅฐ–ๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏๅคงๅ‹•่„ˆๅผไธ‹ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ใใฎๅ ดๅˆใซใฏ่‚บ่ก€ๆตใŒๆธ›ๅฐ‘ใ—ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ไพ‹ใงใฏใ€่‚บ่ก€ๆตใฏๅข—ๅŠ ใ—ใฆ่‚บ้ซ˜่ก€ๅœงใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใซใฏRastelliๆ‰‹่ก“ใ€ๅณๅฎคๆตๅ‡บ่ทฏๅฝขๆˆ่ก“ใ€ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ€Fontanๅž‹ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ๆ‰‹่ก“ๅฝขๅผใซใ‚ˆใ‚‹ใŒใ€้‡็—‡ใช็–พๆ‚ฃใงใ€ไบˆๅพŒไธ่‰ฏใชใ“ใจใ‚‚ๅคšใ„ใ€‚" + @ja
dcterms:identifier2100167NANDO:2200257
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_35_044_01.pdf
rdfs:label - "Disorder of metal metabolism" + "Double-outlet left ventricle" @en
rdfs:label - "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ•ใ—ใคใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_35_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100077
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018090
skos:prefLabel - "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" + "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100168 +
http://nanbyodata.jp/ontology/NANDO_2200258 (rdf:type owl:Class @@ -85245,41 +133922,86 @@

hasNotificationNumber8
+ dcterms:description + "ๅณๅฟƒๆˆฟใจๅณๅฎคใ€ๅทฆๅฟƒๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹ใซๅˆ†้กžใ™ใ‚‹ใ€‚ไฝ“่ก€ๆตใฏ้…ธ็ด ้ฃฝๅ’ŒๅบฆใŒไฝŽใๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„ๅž‹ใงใฏ็‰นใซใƒใ‚ขใƒŽใƒผใ‚ผใŒ็›ฎ็ซ‹ใคใ€‚ๅฟƒๆˆฟ้–“ไบค้€šใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒ็”Ÿๅญ˜ใซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ† ็Šถๅ‹•่„ˆใฎ่ตฐ่กŒใซใ‚‚ๅคšใใฎๅž‹ใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ๆ™‚ใซใฏ้‡่ฆใชๆ‰€่ฆ‹ใจใชใ‚‹ใ€‚ๆฒป็™‚ไป‹ๅ…ฅใชใ—ใงใฏ1ใƒถๆœˆใง50๏ผ…ใŒใ€6ใƒถๆœˆใง85๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚่‡ช็„ถๆญดใงใฏIๅž‹ใŒๆœ€ใ‚‚ไบˆๅพŒไธ่‰ฏใง1ใƒถๆœˆใงไฝŽ้…ธ็ด ใฎใŸใ‚80๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚IIๅž‹ใงใฏ1ใƒถๆœˆใง10๏ผ…ๆญปไบกใ—ใ€IIIๅž‹ใฎ่‡ช็„ถๆญดใŒๆœ€ใ‚‚ใ‚ˆใ„ใ€‚Iๅž‹ใ€IIๅž‹ใงๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“ใฎ้ ้š”ๆœŸใฎไบˆๅพŒใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ€ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100168NANDO:2200258
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_36_045_01.pdf
rdfs:label - "Disorder of purine and pyrimidine metabolism" + "Complete transposition of the great arteries" @en
rdfs:label - "ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200699
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_36_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100078
+ skos:altLabel + "complete tga" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000153
skos:prefLabel - "ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100169 +
http://nanbyodata.jp/ontology/NANDO_2200259 (rdf:type owl:Class @@ -85287,41 +134009,74 @@

hasNotificationNumber52
+ dcterms:description + "ๅณๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใซใคใชใŒใ‚Šใใฎๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—๏ผŒๅทฆๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใซใคใชใŒ ใ‚Šใใฎๅณๅฎคใ‹ใ‚‰ ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ ใ€‚ๅฟƒๅ†…ใซไป–ใฎๅฅ‡ๅฝขใŒใชใ„ๅ ดๅˆ๏ผŒ้™่„ˆ่ก€ ใฏ่‚บๅ‹•่„ˆใธ๏ผŒ่‚บ้™่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ ใ€‚ใ—ใ‹ใ—๏ผŒๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹ ่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใ ๏ผŒใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡ ็Šถใ‚’ๅ‘ˆใ™ใ‚‹ ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น ็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚๏ผŒๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2100169NANDO:2200259
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_37_046_01.pdf
rdfs:label - "Disorder of vitamin metabolism" + "Congenitally corrected transposition of the great arteries" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_37_046/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100079
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016301
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#2100170 +
http://nanbyodata.jp/ontology/NANDO_2200260 (rdf:type owl:Class @@ -85329,83 +134084,91 @@

hasNotificationNumber3
+ dcterms:description + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใฏใ€ไธ‰ๅฐ–ๅผใจๅณๅฎคๆตๅ…ฅ้ƒจใฎๅฅ‡ๅฝขใงใ€ไธ‰ๅฐ–ๅผใŒๅค‰ๅฝขใ—ใ€ใ‹ใคๅณๅฎคๅ†…ใซใšใ‚Œใฆ่ตทๅง‹ใ—ใ€ใใฎ้ƒจๅˆ†ใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅฝขๆˆไธๅ…จใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅณๅฎคๆฉŸ่ƒฝไธๅ…จใจไธ‰ๅฐ–ๅผๆฉŸ่ƒฝไธๅ…จใŒๅฟ…็™บใงใ€ไธ‰ๅฐ–ๅผ็‹ญ็ช„ใ‚„้–‰้Ž–ไธๅ…จใ‚’็จฎใ€…ใฎ็จ‹ๅบฆใซ่ชใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100170NANDO:2200260
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_38_047_01.pdf
rdfs:label - "Disorder of neurotransmitter metabolism and transport" + "Ebstein's anomaly" @en
rdfs:label - "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" + "ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159 + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200711
- skos:prefLabel - "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2129
- - - - - + + - - + + - + - - + +
http://nanbyodata.jp/ontology/nando#2100171 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100171 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_38_047/
- rdfs:label - "Disorder of lipid metabolism" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100080
- rdfs:label + skos:altLabel - "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + "Ebstein็—…" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009144
skos:prefLabel - "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100172 +
http://nanbyodata.jp/ontology/NANDO_2200261 (rdf:type owl:Class @@ -85413,41 +134176,74 @@

hasNotificationNumber54
+ dcterms:description + "็ทๅ‹•่„ˆๅนน้บๆฎ‹ใฏใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ใฎ่ก€ๆถฒใ‚’ๅ˜ไธ€ใฎๅคง่ก€็ฎกใŒๅ—ใ‘ใ€ใ“ใ‚Œใ‚ˆใ‚Šๅ† ๅ‹•่„ˆใ€่‚บใŠใ‚ˆใณ็ณป็ตฑๅพช็’ฐใซ็›ดๆŽฅ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ใพใ‚Œใชๅฟƒๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใพใŸใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จๆฒป็™‚ใ€ๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใจใ—ใฆใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซRastelliๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่ก“ๅพŒ้ ้š”ๆœŸใซๅฐŽ็ฎก็‹ญ็ช„ใŒ็™บ็”Ÿใ—ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2100172NANDO:2200261
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_39_048_01.pdf
rdfs:label - "Connective tissue disorder" + "Truncus arteriosus communis" @en
rdfs:label - "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" + "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200693
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_39_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100081
skos:prefLabel - "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" + "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100173 +
http://nanbyodata.jp/ontology/NANDO_2200262 (rdf:type owl:Class @@ -85455,41 +134251,74 @@

hasNotificationNumber63
+ dcterms:description + "ไธŠ่กŒๅคงๅ‹•่„ˆใฎๅทฆๅดใจ่‚บๅ‹•่„ˆใฎๅณๅดใจใฎ้–“ใซ็ดข็Šถใ‚ใ‚‹ใ„ใฏ็ช“็Šถใฎไบค้€šใŒใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎไบค้€šๅญ”ใ‚’ไป‹ใ—ใฆใ€ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธ็Ÿญ็ตกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€1830ๅนดใซๅˆใ‚ใฆElliotsonใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€1952ๅนดใซใฏGrossใŒๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ—ใŸใ€‚ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎๅŠๆœˆๅผใŒ่งฃๅ‰–ๅญฆ็š„ใซใ‚‚ๆฉŸ่ƒฝ็š„ใซใ‚‚ๅฎŒๅ…จใซๅˆ†้›ขใ—ใฆใ„ใ‚‹ใ€‚Conus septumใŒๅญ˜ๅœจใ—ใ€็ทๅ‹•่„ˆ็ฎกๆฎ‹้บ็—‡ใจใฏ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ไบค้€šๅญ”ใฎไฝ็ฝฎใ‹ใ‚‰typeI๏ผš่ฟ‘ไฝๆฌ ๆๅž‹ใ€typeII๏ผš้ ไฝๆฌ ๆๅž‹ใ€typeIII๏ผšๅ…จๆฌ ๆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ด„ๅŠๆ•ฐใฎไพ‹ใŒใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ็—‡ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใ€Fallotๅ››ๅพด็—‡ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅฟƒไธๅ…จใซๅฏพใ—ใฆๅˆฉๅฐฟ่–ฌใจ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’ไธญๅฟƒใซใ—ใŸๅ†…็ง‘ๆฒป็™‚ใ‚’่กŒใ„ใ€ๆ‰‹่ก“ใพใงใฎ้–“ๅ…จ่บซ็Šถๆ…‹ใฎๆ”นๅ–„ใซๅŠชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใปใจใ‚“ใฉใฎไพ‹ใฏๅฟƒไธๅ…จใŒๅผทใใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใฎๆ‰‹่ก“ๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100173NANDO:2200262
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_40_049_01.pdf
rdfs:label - "porphyria" + "Aorto-pulmonary window" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใ ใ„ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_40_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100082
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021902
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100174 +
http://nanbyodata.jp/ontology/NANDO_2200263 (rdf:type owl:Class @@ -85497,41 +134326,74 @@

hasNotificationNumber23
+ dcterms:description + "ไธ‰ๅฟƒๆˆฟๅฟƒใฏใ€้€šๅธธใฏๅทฆๆˆฟๆ€งไธ‰ๅฟƒๆˆฟๅฟƒcor triatriatumใ‚’ๆŒ‡ใ—ใ€ๅทฆๆˆฟใŒใ€็•ฐๅธธ้š”ๅฃใซใ‚ˆใฃใฆ่‚บ้™่„ˆใฎ้‚„ๆตใ™ใ‚‹ๅ‰ฏๅฎคaccessory chamberใจๅทฆๅฟƒ่€ณใจๅƒงๆˆฟๅผๅฃใ‚’ๅซใ‚€ๅ›บๆœ‰ใฎๅทฆๆˆฟใจใซๅˆ†ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏๅฎคใจๅ›บๆœ‰ๅทฆๆˆฟใจใฏ็‹ญใ„้–‹ๅฃ้ƒจใ‚’้€šใ˜ใฆ้€ฃ็ตกใ—ใฆใ„ใ‚‹ใ‹ใ€ๅ‰ฏๅฎคใŒๅณๆˆฟใจ็›ดๆŽฅ้€ฃ็ตกใ—ใŸใ‚Šใ€ๅˆฅใฎ็•ฐๅธธใช็ตŒ่ทฏใ‚’้€šใ˜ใฆๅทฆๆˆฟใจ้€ฃ็ตกใ™ใ‚‹ใ€‚็—…ๅž‹ๅˆ†้กžใฏLucas-Schmidtใฎใ‚‚ใฎใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Šใ€IAๅž‹๏ผˆclassic type๏ผ‰ใŒๆœ€ใ‚‚ๅคšใใ€ใคใ„ใงIB1ๅž‹ใŒๅคšใ„ใ€‚ๅค–็ง‘ๆฒป็™‚ใฏ่จบๆ–ญใŒใคใ„ใฆๅ‘ผๅธ็Šถๆ…‹ใŒๅฎ‰ๅฎšใ—ๆฌก็ฌฌ่กŒใ†ในใใงใ€้š”ๅฃใฎๅˆ‡้™คใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100174NANDO:2200263
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_41_050_01.pdf
rdfs:label - "Alpha-1-antitrypsin deficiency" + "Cor triatriatum" @en
rdfs:label - "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" + "ใ•ใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚“" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฟƒๆˆฟๅฟƒ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_41_050/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100159http://nanbyodata.jp/ontology/NANDO_2100083
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015450
skos:prefLabel - "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" + "ไธ‰ๅฟƒๆˆฟๅฟƒ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100175 +
http://nanbyodata.jp/ontology/NANDO_2200264 (rdf:type owl:Class @@ -85539,41 +134401,79 @@

hasNotificationNumber73
+ dcterms:description + "่ƒŽๅ…ๆœŸใซ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ๅ‹•่„ˆ็ฎก๏ผˆๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆ้–“ใซๅญ˜ๅœจใ™ใ‚‹่ก€็ฎก๏ผ‰ใŒใ€ๅ‡บ็”ŸๅพŒใ‚‚่‡ช็„ถ้–‰้Ž–ใ›ใš้–‹ๅญ˜็Šถๆ…‹ใ‚’็ถญๆŒใ—ใŸ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ็Ÿญ็ตกใŒ็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตก้‡ใฏ็ฎกใฎๅคงใใ•ใซใ‚ˆใ‚Šใ€ๅคงใใ„ใจๅทฆๅฟƒ็ณปใฎๅฎน้‡่ฒ ่ทใซใชใ‚‹ใ€‚็ดฐใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒๅฟƒไธๅ…จใ‚’่ตทใ“ใ™ใ“ใจใฏใชใ„ใŒใ€็ดฐ่Œๆ€งๅฟƒๅ†…่†œ็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บใฏใ‚ใ‚‹ใ€‚ๅคชใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸใซๅฟƒไธๅ…จใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใพใŸ่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏ็‚Žใชใฉใ‚‚ๅคšใ„ใ€‚4-5ๆญณไปฅๅพŒใซใฏๆฌก็ฌฌใซEisenmengerๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฎ็ตŒ้Žใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้–‰้Ž–ๆ “(Amplatzer Duct Occluder)ใ‚’็”จใ„ใŸใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปๆตใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100175NANDO:2200264
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_42_051_01.pdf
rdfs:label - "Blood disease" + "Patent ductus arteriosus" @en
rdfs:label - "่ก€ๆถฒ็–พๆ‚ฃ" + "ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ‹ใ„ใžใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01630
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_42_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100084
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011827
skos:prefLabel - "่ก€ๆถฒ็–พๆ‚ฃ" + "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100176 +
http://nanbyodata.jp/ontology/NANDO_2200265 (rdf:type owl:Class @@ -85581,41 +134481,69 @@

hasNotificationNumber49
+ dcterms:description + "ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใ€ๅณๅฟƒๆˆฟใจๅทฆๅฟƒๆˆฟใฎ้–“ใซ้š”ๅฃใŒๅญ˜ๅœจใ—ใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็™บ็”Ÿๆฎต้šŽใงๅฟƒๆˆฟไธญ้š”ใฎๅฝขๆˆใŒใงใใชใ‹ใฃใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฎ่‘—ใ—ใ„ๅข—ๅŠ ใ‹ใ‚‰ใ€ๅฟƒไธๅ…จ็—‡็ŠถใŒๅนผๅ…ๆœŸใซใ€ใ‚ˆใ‚Š้‡็—‡ใซๅ‡บ็พใ—ใฆใใ‚‹ใ€‚็—‡็ŠถใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ไพ‹ใฏใ€ๆ—ฉๆœŸใซใƒ‘ใƒƒใƒ็ธซ็€ใซใ‚ˆใ‚‹ๅฟƒๆˆฟไธญ้š”ๅฝขๆˆ่ก“ใ‚’่กŒใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100176NANDO:2200265
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_052_01.pdf
rdfs:label - "Megaloblastic anemia" + "Common atrium" @en
rdfs:label - "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" + "ใŸใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ˜ๅฟƒๆˆฟ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_43_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100085
skos:prefLabel - "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" + "ๅ˜ๅฟƒๆˆฟ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100177 +
http://nanbyodata.jp/ontology/NANDO_2200266 (rdf:type owl:Class @@ -85623,41 +134551,79 @@

hasNotificationNumber50
+ dcterms:description + "ๅฟƒๆˆฟไธญ้š”ใฎๆฌ ๆใ‚’่ชใ‚ใ‚‹ใ€‚ๆฌ ๆใฏๅฟƒๆˆฟไธญ้š”ๅตๅ††็ชฉใ‚’ๅฐ‘ใชใใจใ‚‚ไธ€้ƒจๅซใ‚“ใงใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐๅ…ๆœŸใฏ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅฟƒ้›‘้Ÿณใ‚„ๅฟƒ้›ปๅ›ณ็•ฐๅธธใชใฉใงๅฅ่จบๆ™‚ใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ—ใ‹ใ—ๅŠ ้ฝขใจใจใ‚‚ใซๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ‚„่‚บ้ซ˜่ก€ๅœงใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บไฝ“่ก€ๆตๆฏ”ใŒ1.5ไปฅไธŠใ‹ใ€ๅฟƒใ‚จใ‚ณใƒผใงๅณๅฎคใฎๅฎน้‡่ฒ ่ทใ‚’่ชใ‚ใ‚‹ใจใใ€ๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฏใ€ใŠใŠใ‚€ใญไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใŒๅผทใ„ใจใ€ไบˆๅพŒใŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅ‰ใซๅฟƒๆˆฟ็ดฐๅ‹•ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๆดžๆฉŸ่ƒฝไธๅ…จใ‚„ๅฟƒๆˆฟๆ€งไธๆ•ด่„ˆใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100177NANDO:2200266
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_053_01.pdf
rdfs:label - "pure red cell aplasia" + "Atrial septal defect, ostium secundum type" @en
rdfs:label - "่ตค่Šฝ็ƒ็™†" + "ใซใ˜ใ“ใ†ใŒใŸใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_43_053/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100085
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020434
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020439
skos:prefLabel - "่ตค่Šฝ็ƒ็™†" + "ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100178 +
http://nanbyodata.jp/ontology/NANDO_2200267 (rdf:type owl:Class @@ -85665,46 +134631,74 @@

hasNotificationNumber48
+ dcterms:description + "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฏๅทฆๅณๅฟƒๆˆฟใ‚’้š”ใฆใฆใ„ใ‚‹ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ‚’่จ€ใ†ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฎใ†ใกใ€ๅตๅ††็ชฉใ‚’ๅซใพใชใ„ๆฌ ๆใงใ€ไธŠๅคง้™่„ˆใ‹ไธ‹ๅคง้™่„ˆใซ่ฟ‘ใ„้ƒจไฝใฎๆฌ ๆใ€‚้™่„ˆๆดžๅž‹ใฏไธŠๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธŠไฝๆฌ ๆๅž‹ใ€ไธ‹ๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธ‹ๅคง้™่„ˆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ’๏ผš๏ผ‘ใงๅฅณๆ€งใซๅคšใใ€ๅฐๅ…ๆœŸใ‚„่‹ฅๅนดๆˆไบบใงใฏๆฏ”่ผƒ็š„ไบˆๅพŒใฎ่‰ฏใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใ€็‰นใซๅณ่‚บ้™่„ˆใŒๅณๅฟƒๆˆฟใซ้‚„ๆตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎๅ ดๅˆใซใฏๆ‰‹่ก“ใŒ้›ฃใ—ใใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100178NANDO:2200267
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_054_01.pdf
rdfs:label - "Congenital red blood cell dysplasia anemia" + "Atrial septal defect, sinus venosus type" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + "ใ˜ใ‚‡ใ†ใฟใ‚ƒใใฉใ†ใŒใŸใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00917https://www.shouman.jp/disease/details/04_43_054/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100085
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020436
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + "้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100179 +
http://nanbyodata.jp/ontology/NANDO_2200268 (rdf:type owl:Class @@ -85712,41 +134706,81 @@

hasNotificationNumber51
+ dcterms:description + "ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใฏๅฎŒๅ…จๅž‹ใจไธๅฎŒๅ…จๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใงใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใใ€ไธ‰ๅฐ–ๅผใจๅƒงๅธฝๅผใฏใŠใฎใŠใฎ็‹ฌ็ซ‹ใ—ใฆๅฝขๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ใฎ๏ผ‘ๆฌกไธญ้š”ใฎๆฌ ๆใŒใ‚ใ‚‹ใ€‚ๅƒงๅธฝๅผใซ่ฃ‚้š™cleftใ‚’่ชใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅŸบๆœฌ็š„ใซใฏๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใจๅŒๆง˜ใง,ใ€€ๅฟƒๆˆฟใงใฎๅทฆๅณ็Ÿญ็ตกใซใ‚ˆใ‚‹ๅณๅฎคๅฎน้‡่ฒ ่ทใจ่‚บ่ก€ๆตๅข—ๅŠ ใ‚’็คบใ™ใ€‚ๅŠ ้ฝขใซใ‚ˆใ‚Šๅฟƒๆˆฟ้–“ใฎๅทฆๅณ็Ÿญ็ตกใซๅŠ ใˆใ€ๆˆฟๅฎคๅผ้€†ๆตใ€็‰นใซๅƒงๅธฝๅผ้€†ๆตใฎๅข—ๆ‚ชใซใ‚ˆใ‚Šๅฟƒไธๅ…จ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ใฏๅฟƒไธๅ…จใฎ้€ฒ่กŒใŒใชใ‘ใ‚Œใฐ,ๅฐๅ…ๆœŸใพใงใซใƒ‘ใƒƒใƒใซใ‚ˆใ‚‹ไธ€ๆฌกๅฃ้–‰้Ž–ใจcleftใฎไฟฎๅพฉใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100179NANDO:2200268
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_055_01.pdf
rdfs:label - "Sideroblastic anemia" + "Incomplete atrioventricular septal defect" @en
rdfs:label - "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + "ใตใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_43_055/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100085
+ skos:altLabel + "ไธๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015275
skos:prefLabel - "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + "ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100180 +
http://nanbyodata.jp/ontology/NANDO_2200269 (rdf:type owl:Class @@ -85754,46 +134788,81 @@

hasNotificationNumber7
+ dcterms:description + "่ƒŽ็”ŸๆœŸใฎๅฟƒๅ†…่†œๅบŠๅฝขๆˆ็™’ๅˆไธๅ…จใซใ‚ˆใ‚Šๅฟƒๆˆฟไธญ้š”ไธ€ๆฌกๅญ”ๆฌ ๆใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ„ใ€ๅ…ฑ้€šๆˆฟๅฎคๅผๅฃใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅ…ฑ้€šๅ‰ๅฐ–ใฎๅฝขๆ…‹ใซใ‚ˆใ‚Šใ€A, B, Cใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œ(Rastelliๅˆ†้กž)ใ€Aๅž‹ใงใฏๅ…ฑ้€šๅ‰ๅฐ–ใŒๅณๅฎคๅดใซๅ…ฅใ‚‰ใšใ€่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใ‚„ๅ††้Œ้ƒจไนณ้ ญ็ญ‹ใซ็ตๅˆใ€Bๅž‹ใฏ่…ฑ็ดขใŒๅณๅฎคๅฟƒๅฐ–้ƒจใฎไนณ้ ญ็ญ‹ใจ็ตๅˆใ€Cๅž‹ใฏๅ…ฑ้€šๅ‰ๅฐ–ใฎ่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใจ็ตๅˆใ›ใšใ€ๅณๅฎคไนณ้ ญ็ญ‹ใซ็ตๅˆใ™ใ‚‹(free-floating)ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏๅฟƒๆˆฟไฝใจๅฟƒๅฎคไฝใซใŠใ‘ใ‚‹ๅทฆๅณ็Ÿญ็ตกใจๆˆฟๅฎคๅผใฎๅฝขๆ…‹็•ฐๅธธใซๅŸบใฅใ็จฎใ€…ใฎ็จ‹ๅบฆใฎๆˆฟๅฎคๅผ้–‰้Ž–ไธๅ…จใงใ‚ใ‚Šใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅคงใใชๅ ดๅˆใซใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšๆฑ—ใ€ๅคšๅ‘ผๅธใ€ๅ“บไนณไธ่‰ฏใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏ็ญ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใซtwo-patchๆณ•ใพใŸใฏone-patchๆณ•ใซใ‚ˆใ‚‹ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100180NANDO:2200269
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_44_056_01.pdf
rdfs:label - "Atransferrinemia" + "Complete atrioventricular septal defect" @en
rdfs:label - "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" + "ใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01145https://www.shouman.jp/disease/details/04_44_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100086
+ skos:altLabel + "ๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015273
skos:prefLabel - "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" + "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100181 +
http://nanbyodata.jp/ontology/NANDO_2200270 (rdf:type owl:Class @@ -85801,46 +134870,79 @@

hasNotificationNumber31
+ dcterms:description + "ๅทฆๅณใฎๅฟƒๅฎคใฎ้–“ใฎๅฃใงใ‚ใ‚‹ๅฟƒๅฎคไธญ้š”ใซๅญ”ใฎใ‚ใ„ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฏ่†œๆง˜้ƒจไธญ้š”ใจ็ญ‹ๆ€ง้ƒจไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€็ญ‹ๆ€ง้ƒจไธญ้š”ใฏๆ›ดใซๆตๅ…ฅ่ทฏไธญ้š”ใ€่‚‰ๆŸฑ้ƒจไธญ้š”ใ€ใŠใ‚ˆใณๆตๅ‡บ่ทฏ๏ผˆๆผๆ–—้ƒจ๏ผ‰ไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้ƒจไฝใซๆฌ ๆๅญ”ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆฌ ๆๅญ”ใฎๅคงใใ•ใ€ไฝ็ฝฎใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆ–น้‡ใŒ็•ฐใชใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใฎๅˆไฝตใŒใชใใ€ๅทฆๅณ็Ÿญ็ตกใŒๅฐ‘ใชใ„ไพ‹ใงใฏๅŽŸๅ‰‡ใจใ—ใฆๅค–็ง‘ๆฒป็™‚ใฎ้ฉๅฟœใฏใชใใ€ๆ„ŸๆŸ“ๆ€งๅฟƒๅ†…่†œ็‚Žใซๆณจๆ„ใ—ใชใŒใ‚‰็ตŒ้Ž่ฆณๅฏŸใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅตŒๅ…ฅ้€ธ่„ฑใ‚’ใจใ‚‚ใชใ†ไพ‹ใงใฏๅฐ็Ÿญ็ตกใงใ‚ใฃใฆใ‚‚ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅคšๅ‘ผๅธใ€ๅ“บไนณ้šœๅฎณใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๆฐ—้“ๆ„ŸๆŸ“ใฎๅๅพฉใชใฉใฎ็—‡็ŠถใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๅ†…็ง‘ๆฒป็™‚ใจๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใŸไพ‹ใงใฏ็—‡็ŠถใŒ่ปฝๅพฎใงใ‚ใฃใฆใ‚‚6ใ‚ซๆœˆไปฅๅ†…ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใŒใชใใจใ‚‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅทฆๅฎคๅฎน้‡่ฒ ่ทๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏๅฐฑๅญฆๅ‰ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2100181NANDO:2200270
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_45_057_01.pdf
rdfs:label - "Autoimmune hemolytic anemia" + "Ventricular septal defect" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01585https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01926
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_45_057/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100087
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002070
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100182 +
http://nanbyodata.jp/ontology/NANDO_2200271 (rdf:type owl:Class @@ -85848,46 +134950,79 @@

hasNotificationNumber77
+ dcterms:description + "ใ™ในใฆใฎ่‚บ้™่„ˆใŒๅทฆๆˆฟใจไบค้€šใ‚’ๅคฑใ„,็›ดๆŽฅๅณๆˆฟใพใŸใฏไฝ“้™่„ˆใจไบค้€šใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใŒ้‚„ๆตใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ใค๏ผˆIๅž‹๏ผšไธŠๅฟƒ่‡“ๅž‹ใ€IIๅž‹๏ผšๅฟƒ่‡“ๅž‹ใ€IIIๅž‹๏ผšไธ‹ๅฟƒ่‡“ๅž‹ใ€IV๏ผšๆททๅˆๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บใ†ใฃ่ก€ใซไผดใ†้‡ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใจๅคšๅ‘ผๅธใ‚’่ชใ‚ใ€็”ŸๅพŒๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฎๅŸบๆœฌใฏๅค–็ง‘ๆฒป็™‚ใงใ€่จบๆ–ญใŒใคใๆฌก็ฌฌใ€ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใฎๆˆ็ธพใฏไธ€่ˆฌใซๅ‘ไธŠใ—ใฆใŠใ‚Šใ€ๆ—ฉๆœŸๆญปไบกใฏ2-15%ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ90%ใงใ‚ใ‚‹ใ€‚็ด„10๏ผ…ใซ่ก“ๅพŒ่‚บ้™่„ˆ็‹ญ็ช„ใŒ็”Ÿใ˜ไบˆๅพŒไธ่‰ฏใฎ่ฆๅ› ใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100182NANDO:2200271
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_46_058_01.pdf
rdfs:label - "Paroxysmal nocturnal hemoglobinuria" + "Total anomalous pulmonary venous connection" @en
rdfs:label - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "ใใ†ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01053http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=105
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_46_058/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100088
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007130
skos:prefLabel - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100183 +
http://nanbyodata.jp/ontology/NANDO_2200272 (rdf:type owl:Class @@ -85895,41 +135030,74 @@

hasNotificationNumber78
+ dcterms:description + "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฏ,4ๆœฌใฎ่‚บ้™่„ˆใฎใ†ใก1ใ€œ3ๆœฌใŒไฝ“้™่„ˆ็ณปใซ็•ฐๅธธ้‚„ๆตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่ƒŽ็”Ÿๆ—ฉๆœŸใซๅ…ฑ้€š่‚บ้™่„ˆใฎไธ€้ƒจใŒ้–‰้Ž–ใ—ใ€ไฝ“้™่„ˆ็ณปใจไบค้€šใ‚’ๆฎ‹ใ™ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใฎๅฟƒๅ†…ไฟฎๅพฉๆ‰‹่ก“ๆ™‚ใซใ€ไธ€็ท’ใซๆฒป็™‚ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100183NANDO:2200272
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_46_059_01.pdf
rdfs:label - "Hereditary hemolytic anemia" + "Partial anomalous pulmonary venous connection" @en
rdfs:label - "้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ใถใถใ‚“ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_46_059/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100088
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020453
skos:prefLabel - "้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100184 +
http://nanbyodata.jp/ontology/NANDO_2200273 (rdf:type owl:Class @@ -85937,41 +135105,74 @@

hasNotificationNumber79
+ dcterms:description + "่‚บ้™่„ˆใŒ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๅ ดๅˆใจใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฎ่ก“ๅพŒใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใŒใ‚ใ‚Œใฐใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใซ๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚้–‰้Ž–ใ—ใฆใ„ใ‚Œใฐใ€็”ŸๅพŒใฏ็”Ÿๅญ˜ใงใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚" + @ja
dcterms:identifier2100184NANDO:2200273
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_47_060_01.pdf
rdfs:label - "haemolytic anaemia due to hypersplenism" + "Pulmonary venous obstruction" @en
rdfs:label - "ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บ้™่„ˆ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_47_060/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100089
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017864
skos:prefLabel - "ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "่‚บ้™่„ˆ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100185 +
http://nanbyodata.jp/ontology/NANDO_2200274 (rdf:type owl:Class @@ -85979,41 +135180,74 @@

hasNotificationNumber21
+ dcterms:description + "ๆฌ ๆๅญ”ใฎ้ƒจไฝใซใ‚ˆใ‚Šไปฅไธ‹ใฎ2็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅผไธŠๅž‹ใงใฏ๏ผŒ ไธ‰ๅฐ–ๅผไธญ้š”ๅฐ–ไป˜็€้ƒจใฎ่†œๆง˜้ƒจไธญ้š”ใ‚ˆใ‚ŠไธŠไฝใซๆฌ ๆใ‚’ๆœ‰ใ—๏ผŒ ๅทฆๅฎคใ‹ใ‚‰็›ดๆŽฅๅณๆˆฟใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒ ๅผไธ‹ๅž‹ใงใฏ๏ผŒ ๆฌ ๆๅญ”ใŒไธญ้š”ๅฐ–ใ‚ˆใ‚Šไธ‹้ƒจใฎๅฟƒๅฎค้–“่†œๆง˜้ƒจไธญ้š”ใซ็”Ÿใ˜ใ‚‹ใ€‚" + @ja
dcterms:identifier2100185NANDO:2200274
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_48_061_01.pdf
rdfs:label - "microangiopathic haemolytic anaemia" + "Left ventricular-right atrial communication" @en
rdfs:label - "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ใ•ใ—ใคใ†ใผใ†ใ“ใ†ใคใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_48_061/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100090
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020428
skos:prefLabel - "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100186 +
http://nanbyodata.jp/ontology/NANDO_2200275 (rdf:type owl:Class @@ -86021,41 +135255,79 @@

hasNotificationNumber2
+ dcterms:description + "ๅณๅฎคใฎๆผๆ–—้ƒจใฎ็‹ญ็ช„ใงใฏใชใ๏ผŒ ๆผๆ–—้ƒจใ‚ˆใ‚Šใ‚‚่ฟ‘ไฝๅดใฎๅณๅฎค่‚‰ๆŸฑ้ƒจใฎ่‚‰ๆŸฑใŒ็•ฐๅธธใซ้ซ˜ใ๏ผŒ ใ‹ใคๅคชใใชใ‚Š๏ผŒ ๅณๅฎคๅ†…ใซ็‹ญ็ช„ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚่ด่จบใงใฏ่ƒธ้ชจๅทฆ็ธใซ่กจๅœจ็š„ใซ็ฒ—ใ้•ทใ„ๅŽ็ธฎๆœŸ้›‘้Ÿณใ‚’ใใ. ๅณๅฎคๅ†…ใฎๅœงๅทฎใŒ30๏ฝž50mmHgไปฅไธŠใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹." + @ja
dcterms:identifier2100186NANDO:2200275
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_49_062_01.pdf
rdfs:label - "Polycythemia vera" + "Double-chambered right ventricle" @en
rdfs:label - "็œŸๆ€งๅคš่ก€็—‡" + "ใ†ใ—ใคใซใใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅณๅฎคไบŒ่…”็—‡" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1985
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_49_062/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100091
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016581
skos:prefLabel - "็œŸๆ€งๅคš่ก€็—‡" + "ๅณๅฎคไบŒ่…”็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100187 +
http://nanbyodata.jp/ontology/NANDO_2200276 (rdf:type owl:Class @@ -86063,41 +135335,74 @@

hasNotificationNumber86
+ dcterms:description + "่‚บๅ‹•่„ˆๅผไธ‹๏ผˆๅณๅฎคๆผๆ–—้ƒจ๏ผ‰ใฎ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅณๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅณๅฎคไป•ไบ‹้‡ใŒๅข—ๅคงใ™ใ‚‹ใ€‚ไป–ใซๅฟƒๅฅ‡ๅฝขใŒ็„กใใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒ่‡ช็„ถ้–‰้Ž–ใ—ใŸๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็—‡ไพ‹ใงใฏๅค–็ง‘ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ใƒใƒซใƒผใƒณๆ‹กๅคง่ก“ใฏ็„กๅŠนใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100187NANDO:2200276
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_50_063_01.pdf
rdfs:label - "Familial vera" + "Subvalvular pulmonary stenosis" @en
rdfs:label - "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" + "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_50_063/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100092
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006935
skos:prefLabel - "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" + "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100188 +
http://nanbyodata.jp/ontology/NANDO_2200277 (rdf:type owl:Class @@ -86105,41 +135410,74 @@

hasNotificationNumber64
+ dcterms:description + "ๅคงๅ‹•่„ˆๅผไธ‹ใฎ่†œๆง˜ใพใŸใฏ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅทฆๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅทฆๅฎคไป•ไบ‹้‡ใฏๅข—ๅคงใ™ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๆˆฟๅฎคไธญ้š”ๆฌ ๆใชใฉใซๅˆไฝตใ™ใ‚‹ใ€‚50mmHgไปฅไธŠใฎๅœงๅทฎใŒใ‚ใ‚‹ใจใใซๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100188NANDO:2200277
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_51_064_01.pdf
rdfs:label - "Thrombocytopenic purpura" + "Subvalvular aortic stenosis" @en
rdfs:label - "่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_51_064/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100093
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006987
skos:prefLabel - "่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100189 +
http://nanbyodata.jp/ontology/NANDO_2200278 (rdf:type owl:Class @@ -86147,46 +135485,74 @@

hasNotificationNumber80
+ dcterms:description + "่‚บๅ‹•่„ˆใฎๅผไธŠใ‚‚ใ—ใใฏๆœซๆขขใซใ‹ใ‘ใฆ็‹ญ็ช„ใ€‚ๅทฆๅณๅฟƒๅฎค้–“ใฎไบค้€šใ‚’ไผดใ‚ใชใ„ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100189NANDO:2200278
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_52_065_01.pdf
rdfs:label - "Thrombotic thrombocytopenic purpura" + "Supravalvular pulmonary stenosis" @en
rdfs:label - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00225https://www.shouman.jp/disease/details/04_52_065/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100094
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017870
skos:prefLabel - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100190 +
http://nanbyodata.jp/ontology/NANDO_2200279 (rdf:type owl:Class @@ -86194,41 +135560,69 @@

hasNotificationNumber81
+ dcterms:description + "ไธป่‚บๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅณ่‚บๅ‹•่„ˆ,ใ•ใ‚‰ใซๆœซๆขขใงใฎ่ก€็ฎกๆ€ง็‹ญ็ช„ใงใ‚ใ‚‹ใ€‚็จฎใ€…ใฎ้ƒจไฝใง็‹ญ็ช„ใจใชใ‚Š,ๅ˜็‹ฌใฎ็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใŒ,ๅคšใใฏๅคš็™บๆ€งใงใ‚ใ‚‹ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100190NANDO:2200279
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_52_066_01.pdf
rdfs:label - "Thrombocytopenia (limited to those caused by hypersplenism.)" + "Peripheral pulmonary stenosis" @en
rdfs:label - "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_52_066/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100094
skos:prefLabel - "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100191 +
http://nanbyodata.jp/ontology/NANDO_2200280 (rdf:type owl:Class @@ -86236,69 +135630,74 @@

- dcterms:identifier2100191hasNotificationNumber87
- rdfs:label + dcterms:description - "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉ็š„ใซ่‚บๅ‹•่„ˆๅผใŒๆฌ ๆใ—ใ€่‚บๅ‹•่„ˆๅผ่ผช็‹ญ็ช„ใ€่‚บๅ‹•่„ˆๆ‹กๅคงใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๆฐ—็ฎกๅœง่ฟซใ€ๆฐ—็ฎกไฝŽๅฝขๆˆใ‚’ใจใ‚‚ใชใ†ใ“ใจใŒๅคšใ„ใ€‚ๅผๆฌ ๆใฎใ‚ฟใ‚คใƒ—ใจใ—ใฆใ€1)complete type๏ผˆๅผ็ต„็น”ใฎๅฎŒๅ…จๆฌ ๆ๏ผ‰ใ€2)ridge type๏ผˆๅผใŒ็ต็ฏ€็Šถใซๅผ่ผช็›ดไธŠใงridgeใ‚’ๅฝขๆˆ๏ผ‰ใ€3)partial absence๏ผˆๅผใŒไธ€ๅผๅฐ–ใชใ„ใ—ไบŒๅผๅฐ–ๅฝขๆˆใ•ใ‚Œใ€ๆฎ‹ใ‚ŠใŒๆฌ ๆ๏ผ‰ใ‚’ๅซใ‚€ใ€‚ๅคง้ƒจๅˆ†ใฏFallotๅ››ๅพด็—‡ใซๅˆไฝตใ—ใ€ใใฎไป–ใฎๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175
- - - - - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100192 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100192NANDO:2200280
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_53_067_01.pdf
rdfs:label - "cyclic thrombocytopenia" + "Absent pulmonary valve" @en
rdfs:label - "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‘ใฃใใ‚“" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๅผๆฌ ๆ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_53_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100095
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020064
skos:prefLabel - "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "่‚บๅ‹•่„ˆๅผๆฌ ๆ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100193 +
http://nanbyodata.jp/ontology/NANDO_2200281 (rdf:type owl:Class @@ -86306,41 +135705,74 @@

hasNotificationNumber82
+ dcterms:description + "๏ผˆ้€šๅธธใฎๅทฆๅดๅคงๅ‹•่„ˆๅผ“ใซใŠใ„ใฆ๏ผ‰่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅทฆใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅณ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅณ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ใพใŸใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“ใฎๅ ดๅˆใ€่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅณใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅทฆ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅทฆ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆญฃๅธธๅดใ‚‚่‚บ้ซ˜่ก€ๅœงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ€ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่กŒใ„ใ€ใงใใ‚‹้™ใ‚Šๆ—ฉๆœŸใซไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹่‚บๅ‹•่„ˆใ‚’ๅˆ‡ใ‚Š้›ขใ—ใฆไธป่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚" + @ja
dcterms:identifier2100193NANDO:2200281
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_54_068_01.pdf
rdfs:label - "Mayโ€Hegglin anomaly" + "Origin of pulmonary artery from ascending aorta" @en
rdfs:label - "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธ็—‡" + "ใฏใ„ใฉใ†ใฟใ‚ƒใใ˜ใ‚‡ใ†ใ“ใ†ใ ใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_54_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100096
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020391
skos:prefLabel - "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธ็—‡" + "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100194 +
http://nanbyodata.jp/ontology/NANDO_2200282 (rdf:type owl:Class @@ -86348,46 +135780,74 @@

hasNotificationNumber1
+ dcterms:description + "ๅณๅฎคใ‹ใ‚‰ไธป่‚บๅ‹•่„ˆใ‚’็ตŒใฆใ€็‰‡ๅดใฎ่‚บๅ‹•่„ˆใซใฎใฟใคใชใŒใ‚Šใ€ๅๅฏพๅดใฎ่‚บๅ‹•่„ˆใŒ่‡จๅบŠ็š„ใซ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚่‚บๅ‹•่„ˆๅˆ†ๆž้ƒจใŒๆฌ ๆใ™ใ‚‹ใŒใ€่‚บ้–€้ƒจใ‹ใ‚‰ๆœซๆขขใฏๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใงใใ‚Œใฐใ€ๆ‚ฃๅด่‚บๅ‹•่„ˆใซ็Ÿญ็ตก่ก“ใ‚’ๆ–ฝ่กŒใ—ใ€่‚บๅ‹•่„ˆใŒๆˆ้•ทใ™ใ‚Œใฐใ€ไธป่‚บๅ‹•่„ˆใจๆฌ ๆๅดใฎ่‚บๅ‹•่„ˆใ‚’ใคใชใๆ‰‹่ก“ใ‚’ๆคœ่จŽใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100194NANDO:2200282
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_55_069_01.pdf
rdfs:label - "essential thrombocythaemia" + "Unilateral absence of a pulmonary artery" @en
rdfs:label - "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" + "ใ„ใฃใใใฏใ„ใฉใ†ใฟใ‚ƒใใ‘ใฃใใ‚“" + @ja-Hira
+ rdfs:label + "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01612https://www.shouman.jp/disease/details/04_55_069/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100097
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020007
skos:prefLabel - "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" + "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100195 +
http://nanbyodata.jp/ontology/NANDO_2200283 (rdf:type owl:Class @@ -86395,41 +135855,84 @@

hasNotificationNumber59
+ dcterms:description + "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไธŠๅŠ่บซใฏ้ซ˜่ก€ๅœงใจใชใ‚Šใ€่„ณๅ‡บ่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100195NANDO:2200283
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_070_01.pdf
rdfs:label - "platelet dysfunction" + "Coarctation of the aorta" @en
rdfs:label - "่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" + "ใ ใ„ใฉใ†ใฟใ‚ƒใใ—ใ‚…ใใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=312
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=313
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_070/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100098
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007345
skos:prefLabel - "่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" + "ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100196 +
http://nanbyodata.jp/ontology/NANDO_2200284 (rdf:type owl:Class @@ -86437,41 +135940,84 @@

hasNotificationNumber60
+ dcterms:description + "ๅคงๅ‹•่„ˆ็ธฎ็ช„ใฏๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใŸ็‹ญ็ช„ใ€‚ๅคงๅ‹•่„ˆๅณก้ƒจใฎไฝŽๅฝขๆˆใ‚‚ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็”ŸๅพŒใพใ‚‚ใชใใฏๅ‹•่„ˆ็ฎกใŒ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŒใ€้–‰้Ž–ใ™ใ‚‹ใจใ€ใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใชใ‚‹ใ€‚่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ซ˜ๅบฆใฎๅฟƒไธๅ…จใจใชใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ใŒๅฟ…่ฆใช้‡็—‡ๅฟƒ็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2100196NANDO:2200284
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_071_01.pdf
rdfs:label - "Inherited bleeding disorder" + "Coarctation complex" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" + "ใ ใ„ใฉใ†ใฟใ‚ƒใใ—ใ‚…ใใ•ใใตใใ”ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=312
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=313
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_071/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100098
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007345
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" + "ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100197 +
http://nanbyodata.jp/ontology/NANDO_2200285 (rdf:type owl:Class @@ -86479,41 +136025,79 @@

hasNotificationNumber61
+ dcterms:description + "ๅคงๅ‹•่„ˆๅผไธŠใ€Valsalvaๆดžใ‚ˆใ‚Š้ ไฝใŒ้™ๅฑ€ๆ€งใซ็‹ญ็ช„ใ—ใŸ็—…ๆ…‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆใฎไฝŽๅฝขๆˆใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚Williams็—‡ๅ€™็พคใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ€ๅฎถๆ—ๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ๅ‰ๅพŒใฎๅœง่ผƒๅทฎใŒ50mmHgไปฅไธŠใฎ็—‡ไพ‹ใฏๆ‰‹่ก“้ฉๅฟœใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100197NANDO:2200285
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_072_01.pdf
rdfs:label - "protein C deficiency" + "Supravalvular aortic stenosis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" + "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1483
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100098
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008504
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" + "ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100198 +
http://nanbyodata.jp/ontology/NANDO_2200286 (rdf:type owl:Class @@ -86521,41 +136105,91 @@

hasNotificationNumber58
+ dcterms:description + "็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰น็•ฐใชๆ€งๆ ผใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใŠใ‚ˆใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒ๏ผŒ้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹๏ผŽใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—๏ผŒ็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„๏ผŒ็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใ€‚" + @ja
dcterms:identifier2100198NANDO:2200286
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_073_01.pdf
rdfs:label - "protein S deficiency" + "Williams syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" + "ใ†ใƒใ‚Šใ‚ใ‚€ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200664
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1648
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100098
+ skos:altLabel + "Williams็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008678
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" + "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + "70ใ‹ใ‚‰73ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100199 +
http://nanbyodata.jp/ontology/NANDO_2200287 (rdf:type owl:Class @@ -86563,41 +136197,69 @@

hasNotificationNumber62
+ dcterms:description + "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใจใ‚ˆใถใŒใ€ใใ‚Œไปฅๅค–ใฎ้ƒจไฝใ€ๅคšใใฏใ€ๆจช้š”่†œไฝใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็‹ญ็ช„ใจๅ‘ผใถใ€‚Mid aortic syndromeใจใ‚‚ๅ‘ผใถใ€‚ๅคงๅ‹•่„ˆ็‚Žใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ€‚่…Žๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚‚ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็‹ญ็ช„ใซใ‚ˆใ‚‹่™š่ก€็—‡็Šถใ€็‹ญ็ช„้ƒจๅ‰ใฎ่ก€ๅœงไธŠๆ˜‡ใซใ‚ˆใ‚Šใ€่„ณ่™š่ก€ใ€่„ณๅ‡บ่ก€ใ€่…Ž่™š่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹" + @ja
dcterms:identifier2100199NANDO:2200287
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_074_01.pdf
rdfs:label - "antithrombin deficiency" - @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + "70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" @ja
+ rdfs:label + "Other Coarctation of the aorta" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_074/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100098
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + "70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100200 +
http://nanbyodata.jp/ontology/NANDO_2200288 (rdf:type owl:Class @@ -86605,46 +136267,74 @@

hasNotificationNumber57
+ dcterms:description + "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจใŒๆฌ ๆใƒป้›ขๆ–ญใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ๅฟƒ็–พๆ‚ฃใ€‚้›ขๆ–ญใ—ใฆใ„ใ‚‹้ƒจไฝใซใ‚ˆใ‚ŠAๅž‹(ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎๆœซๆขขใง้›ขๆ–ญ)ใ€Bๅž‹(ๅทฆ็ท้ ธๅ‹•่„ˆใจๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎ้–“ใง้›ขๆ–ญ)ใ€Cๅž‹(ๅณ่…•้ ญๅ‹•่„ˆใจๅทฆ็ท้ ธๅ‹•่„ˆใจใฎ้–“ใง้›ขๆ–ญ)ใซ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹(Celoria-Pattonๅˆ†้กž)ใ€‚ๆ–ฐ็”Ÿๅ…ๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅ‘ผๅธใ€้™ฅๆฒกๅ‘ผๅธใ€ๅ“บไนณๅ›ฐ้›ฃใ€ๅฐฟ้‡ไฝŽไธ‹ใชใฉใฎๅฟƒไธๅ…จ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100200NANDO:2200288
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_57_075_01.pdf
rdfs:label - "Myelofibrosis" + "Interruption of aortic arch complex" @en
rdfs:label - "้ชจ้ซ„็ทš็ถญ็—‡" + "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใ‚Šใ ใ‚“ใตใใ”ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01605https://www.shouman.jp/disease/details/04_57_075/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100099
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009010
skos:prefLabel - "้ชจ้ซ„็ทš็ถญ็—‡" + "ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ" @ja
- - + + + + + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100201 +
http://nanbyodata.jp/ontology/NANDO_2200289 (rdf:type owl:Class @@ -86652,46 +136342,69 @@

hasNotificationNumber56
+ dcterms:description + "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจๅ†…่…”ใŒ้–‰ๅกžใ—็ดข็Šถ็‰ฉใงใคใชใŒใ‚‹ใ‚‚ใฎใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100201NANDO:2200289
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_57_076_01.pdf
rdfs:label - "Aplastic anemia" + "Aortic arch occlusive disease" @en
rdfs:label - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใธใ„ใใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01132https://www.shouman.jp/disease/details/04_57_076/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100175http://nanbyodata.jp/ontology/NANDO_2100099
skos:prefLabel - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100202 +
http://nanbyodata.jp/ontology/NANDO_2200290 (rdf:type owl:Class @@ -86699,41 +136412,74 @@

hasNotificationNumber18
+ dcterms:description + "ๅณๅคงๅ‹•่„ˆๅผ“ใจๅทฆๅคงๅ‹•่„ˆๅผ“ใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใจใชใ‚Šใ€่ก€็ฎก่ผชใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ๅทฆๅณใฎๅคงๅ‹•่„ˆๅผ“ใฏๅˆๆตใ—ใฆไธ‹่กŒๅคงๅ‹•่„ˆใจใชใ‚‹ใ€‚ๅทฆๅณๅคงๅ‹•่„ˆๅผ“ใซๆŒŸใพใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2100202NANDO:2200290
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_58_077_01.pdf
rdfs:label - "Immune system disease" + "Double aortic arch disease" @en
rdfs:label - "ๅ…็–ซ็–พๆ‚ฃ" + "ใ˜ใ‚…ใ†ใตใใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_58_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100100
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020413
skos:prefLabel - "ๅ…็–ซ็–พๆ‚ฃ" + "้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2100203 +
http://nanbyodata.jp/ontology/NANDO_2200291 (rdf:type owl:Class @@ -86741,46 +136487,74 @@

hasNotificationNumber17
+ dcterms:description + "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นใ€ใŠใ‚ˆใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจใŠใ‚ˆใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ๅˆไฝตใฎไบˆๅพŒใฏๆ‚ชใ„ใ€‚" + @ja
dcterms:identifier2100203NANDO:2200291
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_58_078_01.pdf
rdfs:label - "Combined immunodeficiency" + "Vascular sling" @en
rdfs:label - "่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + "ใฒใ ใ‚Šใฏใ„ใฉใ†ใฟใ‚ƒใใฟใŽใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00093http://nanbyodata.jp/ontology/NANDO_1200965
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_58_078/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100100
skos:prefLabel - "่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" @ja
- - + + + + + + + + + - + + + + + + "77ใŠใ‚ˆใณ78ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ‹ใ‚“ใ‚Šใ‚“" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100204 +
http://nanbyodata.jp/ontology/NANDO_2200292 (rdf:type owl:Class @@ -86788,41 +136562,69 @@

hasNotificationNumber19
+ dcterms:description + "ไธกๅดใฎ็ฌฌ4้ฐ“ๅผ“ๅ‹•่„ˆใฎ้บๆฎ‹ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใŒๅฝขๆˆใ•ใ‚Œใ€็™บ็”Ÿใฎ้Ž็จ‹ใงไธ€้ƒจใฎ่ก€็ฎกใŒ้€€็ธฎใƒปๆถˆๅคฑใ—ใ€่ก€็ฎก่ผชใŒ็”Ÿใ˜ใ‚‹ใ€‚็—…ๅž‹ใจใ—ใฆใฏๅณ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆๅดๅ‹•่„ˆ็ฎกใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅทฆ็ท้ ธๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€็„กๅๅ‹•่„ˆใซใ‚ˆใ‚‹ๅœง่ฟซใชใฉใŒใ‚ใ‚‹ใ€‚่ผช็ŠถใจใชใฃใŸ่ก€็ฎกใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใฎๅœง่ฟซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚็—…ๅž‹ใซใ‚ˆใฃใฆใฏFallotๅ››ๅพด็—‡ใชใฉใซๅˆไฝตใ—ใฆๅ‡บ็พใ€‚ๅ‘ผๅธๅ™จใƒปๆถˆๅŒ–ๅ™จ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใซ่ก€็ฎก่ผชใ‚’่งฃ้™คใ™ใ‚‹ๅค–็ง‘็š„ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100204NANDO:2200292
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_58_079_01.pdf
rdfs:label - "immunodeficiency" - @en
rdfs:label - "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค" + "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช" @ja
+ rdfs:label + "Other Vascular ring" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_58_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100100
skos:prefLabel - "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค" + "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100205 +
http://nanbyodata.jp/ontology/NANDO_2200293 (rdf:type owl:Class @@ -86830,41 +136632,81 @@

hasNotificationNumber66
+ dcterms:description + "ๅ…ˆๅคฉ็š„ใซๆ”ฏๆŒ็ต„็น”ใฎ่„†ๅผฑๆ€งใซใ‚ˆใ‚ŠValsalvaๆดžใฎไธ€้ƒจใŒๅณๅฎคใ‚‚ใ—ใใฏๅณๆˆฟใซ็˜ค็Šถใซ็ชๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ๆผๆ–—้ƒจๅฟƒๅฎคไธญ้š”ๆฌ ๆใซๅคงๅ‹•่„ˆๅผใจใƒใƒซใ‚ตใƒซใƒๆดžใŒ่ฝใก่พผใฟใ€ใƒใƒซใ‚ตใƒซใƒๆดžใฎๆ‹กๅคงใจๅผใฎ้€ธ่„ฑใ‚’ใใŸใ—ใŸใ‚‚ใฎใŒๅคšใ„ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏใƒใƒซใ‚ตใƒซใƒๆดžใง้–‰้Ž–ใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅค‰ๅฝขใ‹ใ‚‰้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใƒใƒซใ‚ตใƒซใƒๆดžใŒๅณๅฎคใชใฉไบค้€šใ‚’ไฝœใ‚‹ใ“ใจใŒใ‚ใ‚‹๏ผˆใƒใƒซใ‚ตใƒซใƒๆดž็ ด่ฃ‚๏ผ‰ใ€‚็ ด่ฃ‚ใ™ใ‚‹ใจใ€็ช็„ถใฎ่ƒธ็—›ใจใจใ‚‚ใซใ€ๅทฆๅณ็Ÿญ็ตกใ‚’ใใŸใ™ใ€‚ๆ‰‹่ก“้ฉๅฟœใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100205NANDO:2200293
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_59_080_01.pdf
rdfs:label - "predominantly antibody deficiency" + "Aneurysm of sinus valsalva" @en
rdfs:label - "ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" + "ใฐใ‚‹ใ•ใ‚‹ใฐใฉใ†ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_59_080/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100101
+ skos:altLabel + "Valsalvaๆดžๅ‹•่„ˆ็˜ค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015197
skos:prefLabel - "ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" + "ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100206 +
http://nanbyodata.jp/ontology/NANDO_2200294 (rdf:type owl:Class @@ -86872,41 +136714,74 @@

hasNotificationNumber65
+ dcterms:description + "ๅคงๅ‹•่„ˆใฎไธ€้ƒจใฎๅฃใŒใ€ๅ…จๅ‘จๆ€งใ€ใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆ‹กๅคงใพใŸใฏ็ชๅ‡บใ—ใŸ็Šถๆ…‹ใ€‚ๅฃใฎไธ€้ƒจใŒๅฑ€ๆ‰€็š„ใซๆ‹กๅผตใ—ใฆ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ๅ ดๅˆใ€ใพใŸใฏ็›ดๅพ„ใŒๆญฃๅธธๅพ„ใฎ1.5ๅ€๏ผˆ่ƒธ้ƒจใง45mm๏ผ‰ใ‚’่ถ…ใˆใฆๆ‹กๅคงใ—ใŸๅ ดๅˆใซ็˜คใจ็งฐใ—ใฆใ„ใ‚‹ใ€‚ๆ‹กๅคงใ—ใŸ่ก€็ฎกๅฃใฏ่„†ๅผฑใซใชใ‚Šๅคงๅ‹•่„ˆ่งฃ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใใชใ‚‹ใ€‚Marfan็—‡ๅ€™็พค๏ผˆใŠใ‚ˆใณ้กžไผผ็–พๆ‚ฃ๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงๅพ„55mmไปฅไธŠใฎ็˜คใซๅฏพใ—ใฆๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆโ€”ๅผ“้ƒจใฎ็˜คใฏๅค–็ง‘ๆฒป็™‚ใ€ไธ‹่กŒๅคงๅ‹•่„ˆใฎ็˜คใฏใ€ๆˆไบบใงใ‚ใ‚Œใฐใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๆ–ฝ่กŒใ•ใ‚Œใฆใ„ใชใ„ใ€‚" + @ja
dcterms:identifier2100206NANDO:2200294
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_59_081_01.pdf
rdfs:label - "disease of immune dysregulation" + "Aortic aneurysm" @en
rdfs:label - "ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" + "ใ ใ„ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆ็˜ค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_59_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100101
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005160
skos:prefLabel - "ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" + "ๅคงๅ‹•่„ˆ็˜ค" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100207 +
http://nanbyodata.jp/ontology/NANDO_2200295 (rdf:type owl:Class @@ -86914,69 +136789,79 @@

- dcterms:identifier2100207hasNotificationNumber70
- rdfs:label + dcterms:description - "ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡" + "็—…็†ๅญฆ็š„ใซใฏๆ•ฐ็จฎ้กžใŒๅŒบๅˆฅใ•ใ‚Œใ‚‹ใŒใ€็—…ๆ…‹็”Ÿ็†ๅญฆ็š„ใซ่‚บๅ‹•่„ˆใŒ่‚บๆฏ›็ดฐ่ก€็ฎกใ‚’็ตŒ้Žใ›ใšใซ่‚บ้™่„ˆใซๆŽฅ็ถšใ™ใ‚‹ๅ ดๅˆใ‚’่‚บๅ‹•้™่„ˆ็—ฎใจใ‚ˆใถใ€‚่งฃๅ‰–๏ผšๅคงใพใ‹ใซใฏ4็จฎ้กžใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฎ่ก€็ฎก่…ซๅž‹ใฏๅคšๆ•ฐใฎ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใจ่‚บ้™่„ˆใŒใคใชใŒใ‚‹ใ€‚็ฌฌไบŒใฎๅ‹•่„ˆ็˜คๅž‹ใงใฏ็ƒๅž‹ใ€ใพใŸใฏๆ‹กๅผตใ—ใŸ็ฎก็Šถ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใŒ่‚บ้™่„ˆใซใคใชใŒใ‚‹ใ€‚็ฌฌไธ‰ใฎ่‚บๅ‹•่„ˆๅทฆๆˆฟไบค้€š็—‡ใงใฏๅณ่‚บๅ‹•่„ˆใฎๆžใŒ็›ดๆŽฅๅทฆๆˆฟใซใคใชใŒใ‚‹ใ€‚็ฌฌๅ››ใฎใณใพใ‚“ๆ€งใฎๅž‹ใงใฏใ€ๅ…จ่‚บ้‡Žใซใ‚ใŸใ‚Šใ€่‚บๅ‹•่„ˆๆŠนๆถˆใง็„กๆ•ฐใฎๆ‹กๅผตใ—ใŸๅฐ่ก€็ฎกใŒๅ‹•้™่„ˆ็˜ปใ‚’ๅฝขๆˆใ™ใ‚‹ๅž‹ใงใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹๏ผš่‚บๅ‹•่„ˆใฎ้™่„ˆ่ก€ใŒ้…ธ็ด ๅŒ–ใ•ใ‚Œใšใซ่‚บ้™่„ˆใธๆตใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅœงใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ่‚บ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆ่ก€ใฎ้…ธ็ด ้ฃฝๅ’Œๅบฆใฏๆง˜ใ€…ใช็จ‹ๅบฆใซไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ๅฟƒๆ‹ๅ‡บ้‡ใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง่‚บๅˆ‡้™คใ™ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚Œใšใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปใงใ‚ใ‚‹ใ€‚็˜ปใŒใณใพใ‚“ๆ€งใฎๆ™‚ใฏใ€ๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ€€็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ใณใพใ‚“ๆ€งใงใชใ„ๆ™‚ใฏใ€ๆฒป็™‚ๅพŒใฏไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใชใจใใฏไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202
- - - - - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100208 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100208NANDO:2200295
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_60_082_01.pdf
rdfs:label - "defect in innate immunity" + "Pulmonary arteriovenous fistulae" @en
rdfs:label - "่‡ช็„ถๅ…็–ซ็•ฐๅธธ" + "ใฏใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•้™่„ˆ็˜ป" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2917
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_60_082/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100102
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009930
skos:prefLabel - "่‡ช็„ถๅ…็–ซ็•ฐๅธธ" + "่‚บๅ‹•้™่„ˆ็˜ป" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100209 +
http://nanbyodata.jp/ontology/NANDO_2200296 (rdf:type owl:Class @@ -86984,41 +136869,74 @@

hasNotificationNumber69
+ dcterms:description + "ๅณใพใŸใฏๅทฆใฎๅ† ็Šถๅ‹•่„ˆใŒ็˜ปใฎ่ก€็ฎกใ‚’ไป‹ใ—ใฆ็›ดๆŽฅๅฟƒใ€ใพใŸใฏๅคง่ก€็ฎก่…”ใซ้–‹ใ„ใฆใ„ใ‚‹ใ€‚็Ÿญ็ตกใŒๅคšใ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใซใฏไนณๅ…ๆœŸใซๅคšๅ‘ผๅธใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใชใฉใฎๅฟƒไธๅ…จใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตฝใŒๅฐ‘ใชใ„ๅ ดๅˆใซใฏๅฐๅ…ๆœŸใซใฏๅฟƒ่‡“ใฎ้›‘้Ÿณใ‚’ๅ‘ˆใ™ใ‚‹ใ ใ‘ใงใ€็‰นๅˆฅใฎ็—‡็Šถใฏใชใ„ใ€‚ๅฟƒๅ†…่†œ็‚Žไบˆ้˜ฒใ€ๅฟƒไธๅ…จใ€ๅฟƒ็ญ‹่™š่ก€ใ€็˜ปใฎ็ ด่ฃ‚ใƒชใ‚นใ‚ฏใŒๆฒป็™‚้ฉๅฟœใงใ‚ใ‚‹ใ€‚ๅฐใ•ใช็˜ป่ก€็ฎกใฎๆฒป็™‚้ฉๅฟœใฏใชใ„ใ€‚ๅนด้ฝขใจใจใ‚‚ใซ็˜ป่ก€็ฎกใฏๆ‹กๅคงใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใงใ€ใ‚ใ‚‹็จ‹ๅบฆไปฅไธŠใฎ็˜ป่ก€็ฎกใชใ‚‰ๆฒป็™‚้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใ™ใ‚‹ใ€‚่ก“ๅพŒใ€ๆŠ—่ก€ๅฐๆฟ่–ฌใ‚„ๆŠ—ๅ‡ๅ›บ่–ฌใŒๅฟ…่ฆใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ก“ๅพŒใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ๅ† ๅ‹•่„ˆใฎๆ‹กๅคงใŒ็„กใ„ใจใใฏใ€ไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใ‚‚ๅคงใใช็˜ป่ก€็ฎกใ‚„ๅ† ๅ‹•่„ˆใŒๆฎ‹ๅญ˜ใ™ใ‚‹ใจใใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100209NANDO:2200296
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_60_083_01.pdf
rdfs:label - "inherited deficiency of complement system" + "Coronary artery fistula" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira
+ rdfs:label + "ๅ† ๅ‹•่„ˆ็˜ป" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_60_083/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100102
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016081
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + "ๅ† ๅ‹•่„ˆ็˜ป" @ja
- - + + + + + + + + + - + + + + + + "82ใŠใ‚ˆใณ83ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100210 +
http://nanbyodata.jp/ontology/NANDO_2200297 (rdf:type owl:Class @@ -87026,41 +136944,69 @@

hasNotificationNumber71
+ dcterms:description + "ๅ‹•่„ˆใจ้™่„ˆใŒๆฏ›็ดฐ่ก€็ฎกใ‚’้€šใ•ใš็•ฐๅธธ่ก€็ฎกใงไบค้€šใ—ใฆใ„ใ‚‹็—…ๆ…‹ใ€‚ ้ ญ่“‹ๅ†…ใ€่‚่‡“ใ€ๅ››่‚ขใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅ‹•่„ˆ่ก€ใŒ็›ดๆŽฅ้™่„ˆใซ้‚„ๆตใ™ใ‚‹ใŸใ‚ใ€ๅณๅฟƒ็ณปใซๅฎน้‡่ฒ ่ทใ‚’ใใŸใ—ๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใŒใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใชใ„ใ—ๅˆ‡้™คใ™ใ‚‹ใ€‚ไบˆๅพŒใฏ้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใŸใ‚Šใ€ๆฒป็™‚ๅ›ฐ้›ฃใช้ƒจไฝใซใ‚ใ‚‹ๆ™‚ใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100210NANDO:2200297
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_60_084_01.pdf
rdfs:label - "hyper eosinophilic syndrome" - @en
rdfs:label - "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + "82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป" @ja
+ rdfs:label + "Other Arteriovenous fistulae" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_60_084/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100102
skos:prefLabel - "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + "82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100211 +
http://nanbyodata.jp/ontology/NANDO_2200298 (rdf:type owl:Class @@ -87068,41 +137014,79 @@

hasNotificationNumber83
+ dcterms:description + "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœงใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆๅญฟ็ธฎใŒ็”Ÿใ˜ใ€ใใ“ใซ่ก€็ฎกๅฃใฎ่‚ฅๅŽšๆ€งๅค‰ๅŒ–ใ‚„่ก€็ฎก้š›ๆง‹็ฏ‰ใชใฉใฎๅŸบ่ณช็š„็—…ๅค‰ใŒๅŠ ใ‚ใ‚Šๆƒน่ตทใ•ใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‚บใฎ็ญ‹ๆ€งๅ‹•่„ˆใ‚„็ดฐๅ‹•่„ˆใฎไธญ่†œใ€ๅ†…่†œ่‚ฅๅŽšใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใฎ่ก€ๅœงใŒ้ซ˜ใพใ‚Šใ€ๅฟƒๆ‹ๅ‡บ้‡ไฝŽไธ‹ใ‚’็”Ÿใ˜ใ€ๅณๅฟƒไธๅ…จใ‚’ใฏใ˜ใ‚ๅฟƒ่‡“ใ‚„่‚บใฎๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ใ‚‚ใŸใ‚‰ใ™ใ€้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใ€‚ๅŽŸๅ› ใฏใ€BMPR2ใ€ALK1ใ€Endoglinใชใฉใฎ้บไผๅญ็•ฐๅธธใŒๅญ˜ๅœจใ™ใ‚‹ใ‚‚ใฎใจใ€ๆœชใ ้บไผๅญ็•ฐๅธธใŒใ‚ใใ‚‰ใ‹ใงใชใ„ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใงใ€้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ๆง˜ใ€…ใช่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใŒ้–‹็™บใ•ใ‚Œใ€่‡จๅบŠไฝฟ็”จใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใ‚Šใ€ไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใฆใ„ใ‚‹ใŒใ€ใใ‚Œใงใ‚‚ไพ็„ถไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใซใฏๅค‰ใ‚ใ‚Šใชใ„ใ€‚" + @ja
dcterms:identifier2100211NANDO:2200298
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_61_085_01.pdf
rdfs:label - "Chronic active EB virus infection" + "pulmonary arterial hypertension" @en
rdfs:label - "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200425
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_61_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100103
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015924
skos:prefLabel - "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100212 +
http://nanbyodata.jp/ontology/NANDO_2200299 (rdf:type owl:Class @@ -87110,41 +137094,74 @@

hasNotificationNumber94
+ dcterms:description + "่‚บใฎ็–พๆ‚ฃใฎๅญ˜ๅœจใซใ‚ˆใ‚‹่‚บๅพช็’ฐใฎ้šœๅฎณใซใ‚ˆใฃใฆ่‚บๅ‹•่„ˆๅœงใฎไธŠๆ˜‡ใ‚’ใใŸใ—ใ€ๅณๅฟƒไธๅ…จใซ้™ฅใ‚‹็—…ๆ…‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ…ขๆ€ง่‚บ็–พๆ‚ฃใ€้ซ˜ๅบฆใฎๆ‰ๆกƒ่‚ฅๅคงใซใ‚ˆใ‚‹ๆฐ—้“้–‰ๅกžใ€ๆ„ŸๆŸ“ๆ€ง่‚บ็–พๆ‚ฃใ€ๅ–˜ๆฏใชใฉใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใ€ไฝŽๅ‡บๅพไฝ“้‡ๅ…ใฎ้•ทๆœŸไบบๅทฅๅ‘ผๅธ็ฎก็†ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃbronchopulmonary dysplasiaใชใฉใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏ้–“่ณชๆ€ง่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ€้•ทๅนดใฎๅ–ซ็…™ใซใ‚ˆใ‚‹่‚บ้šœๅฎณใชใฉใŒๅŽŸๅ› ใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใซใฏๅพช็’ฐ้šœๅฎณใฎๅŽŸๅ› ใจใชใฃใฆใ„ใ‚‹่‚บใฎ็–พๆ‚ฃใฎๆฒป็™‚ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใซๅฏพใ—ใฆใฏใ€่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’็”จใ„ใ‚‹ใ€‚ๅณๅฟƒไธๅ…จใซๅฏพใ—ใฆใฏๆŠ—ๅฟƒไธๅ…จ็™‚ๆณ•ใ‚’ใŠใ“ใชใ†ใ€‚" + @ja
dcterms:identifier2100212NANDO:2200299
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_62_086_01.pdf
rdfs:label - "Acquired immune deficiency syndrome" + "Chronic cor pulmonale" @en
rdfs:label - "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡" + "ใพใ‚“ใ›ใ„ใฏใ„ใ›ใ„ใ—ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_62_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100104
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001493
skos:prefLabel - "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡" + "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100213 +
http://nanbyodata.jp/ontology/NANDO_2200300 (rdf:type owl:Class @@ -87152,41 +137169,74 @@

hasNotificationNumber37
+ dcterms:description + "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆใ€ๅฟƒๆˆฟใ‹ใ‚‰ๅณๅฟƒๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๆฏ”่ผƒ็š„็จ€ใชๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไธ‰ๅฐ–ๅผๅฐ–ใ€่…ฑ็ดขใ€ไนณ้ ญ็ญ‹ใŒไฝŽๅฝขๆˆใงใ€ๅผ่ผช็‹ญ็ช„ใ‚’ใจใ‚‚ใชใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ใฎ็จ‹ๅบฆใซๅฟœใ˜ใฆใ€ๆ‰‹่ก“้ฉๅฟœใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100213NANDO:2200300
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_087_01.pdf
rdfs:label - "chronic graft-versus-host disease" + "Tricuspid valve stenosis" @en
rdfs:label - "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" + "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_087/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100202http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005997
skos:prefLabel - "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" + "ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100214 +
http://nanbyodata.jp/ontology/NANDO_2200301 (rdf:type owl:Class @@ -87194,41 +137244,74 @@

hasNotificationNumber38
+ dcterms:description + "ไธ‰ๅฐ–ๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใฃใฆๅณๅฟƒๅฎคใ‹ใ‚‰ๅณๅฟƒๆˆฟใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผไป˜ๅฑžๅ™จ๏ผˆไนณ้ ญ็ญ‹ใ‚„่…ฑ็ดข๏ผ‰ใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้–‰้Ž–ไธๅ…จใŒ้ซ˜ๅบฆใ ใจใ€ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100214NANDO:2200301
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_088_01.pdf
rdfs:label - "Neuromuscular disease" + "Tricuspid valve regurgitation" @en
rdfs:label - "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ" + "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_088/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002870
skos:prefLabel - "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ" + "ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100215 +
http://nanbyodata.jp/ontology/NANDO_2200302 (rdf:type owl:Class @@ -87236,41 +137319,74 @@

hasNotificationNumber39
+ dcterms:description + "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใƒชใ‚ฆใƒžใƒๆ€งใ‚‚ใ‚ใ‚‹ใŒใ€ๅฐๅ…ใงใฏๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„ใฏๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2100215NANDO:2200302
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_089_01.pdf
rdfs:label - "myelomeningocele" + "Mitral valve stenosis" @en
rdfs:label - "่„Š้ซ„้ซ„่†œ็˜ค" + "ใใ†ใผใ†ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅƒงๅธฝๅผ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005852
skos:prefLabel - "่„Š้ซ„้ซ„่†œ็˜ค" + "ๅƒงๅธฝๅผ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100216 +
http://nanbyodata.jp/ontology/NANDO_2200303 (rdf:type owl:Class @@ -87278,41 +137394,74 @@

hasNotificationNumber40
+ dcterms:description + "ๅƒงๅธฝๅผใŠใ‚ˆใณๅผไป˜ๅฑžๅ™จใฎ็•ฐๅธธใซใ‚ˆใ‚ŠๅŽ็ธฎๆœŸใซๅทฆๅฎคใ‹ใ‚‰ๅทฆๆˆฟใธใฎ้€†ๆตใŒ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅƒงๅธฝๅผ้€ธ่„ฑ็—‡ๅ€™็พคใ€Marfan็—‡ๅ€™็พคใ€Ehlers-Danlos็—‡ๅ€™็พคใ€ๅทๅดŽ็—…ๅพŒๅ† ๅ‹•่„ˆ็˜คใ€ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใ€ไนณๅ…่…ฑ็ดขๆ–ญ่ฃ‚ใชใฉใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใซใฏๆฒป็™‚ใฏไธ่ฆใฎใ“ใจใŒๅคšใ„ใ€‚ไธญ็ญ‰็—‡ใซใฏๅ†…็ง‘ๆฒป็™‚ใ€้‡็—‡ไพ‹ใซใฏๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ไบˆๅพŒใฏใ€ๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100216NANDO:2200303
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_090_01.pdf
rdfs:label - "Sacrococcygeal teratoma" + "Mitral Regurgitation" @en
rdfs:label - "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" + "ใใ†ใผใ†ในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_090/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001298
skos:prefLabel - "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" + "ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100217 +
http://nanbyodata.jp/ontology/NANDO_2200304 (rdf:type owl:Class @@ -87320,69 +137469,74 @@

- dcterms:identifier2100217hasNotificationNumber43
- rdfs:label + dcterms:description - "่„ณๅฝขๆˆ้šœๅฎณ" + "่‚บๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅณๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ˜็‹ฌใฎใ‚‚ใฎใŠใ‚ˆใณFallotๅ››ๅพด็—‡ใชใฉไป–็–พๆ‚ฃใซๅˆไฝตใ—ใŸใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅฟƒใ‚จใ‚ณใƒผใ€ๅฟƒ่‡“ใ‚ซใƒ†ใƒผใƒ†ใƒซๆคœๆŸปใ‹ใ‚‰้‡็—‡ๅบฆใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚๏ผ‘๏ผ‰ ่ปฝ็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธ‹ใ€ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธ‹๏ผ’๏ผ‰ ไธญ็ญ‰็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธŠใ€ไฝ“่ก€ๅœงใพใง๏ผ“๏ผ‰ ้‡็—‡๏ผšไฝ“่ก€ๅœงไปฅไธŠใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใ€ๅ‹•่„ˆ็ฎกใซ่‚บๅพช็’ฐใŒไพๅญ˜ใ—ใฆใ„ใ‚‹ไพ‹ใฏใ€ใจใใซ้‡็—‡ใงใ‚ใ‚‹ใ€‚ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธŠใฎๅ ดๅˆใฏๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๆฒป็™‚ใฏใ€็ตŒ็šฎ็š„ใ‚ซใƒ†ใƒผใƒ†ใƒซ่‚บๅ‹•่„ˆๅผๆ‹กๅผต่ก“ใ‹ๆ‰‹่ก“ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚ŒใชใใชใฃใŸใ€‚ๆฒป็™‚ๅพŒใฎไบˆๅพŒใฏใ€ๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214
- - - - - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100218 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100218NANDO:2200304
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_091_01.pdf
rdfs:label - "Joubert syndrome related disorders" + "Pulmonary valve stenosis" @en
rdfs:label - "ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_091/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006936
skos:prefLabel - "ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + "่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100219 +
http://nanbyodata.jp/ontology/NANDO_2200305 (rdf:type owl:Class @@ -87390,41 +137544,74 @@

hasNotificationNumber44
+ dcterms:description + "่‚บๅ‹•่„ˆใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใ‹ใ‚‰ๅณๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไป–็–พๆ‚ฃใซๅˆไฝตใ€ใ‚ใ‚‹ใ„ใฏ่ก“ๅพŒใซ่ชใ‚ใ‚‹ใ“ใจใฏๅคšใ„ใŒใ€ๅ…ˆๅคฉ็š„ใชใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚้ซ˜ๅบฆไพ‹ใงใฏๆ‰‹่ก“็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100219NANDO:2200305
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_092_01.pdf
rdfs:label - "Rett syndrome" + "Pulmonary valve regurgitation" @en
rdfs:label - "ใƒฌใƒƒใƒˆ๏ผˆRett๏ผ‰็—‡ๅ€™็พค" + "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_092/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001927
skos:prefLabel - "ใƒฌใƒƒใƒˆ๏ผˆRett๏ผ‰็—‡ๅ€™็พค" + "่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100220 +
http://nanbyodata.jp/ontology/NANDO_2200306 (rdf:type owl:Class @@ -87432,97 +137619,74 @@

- dcterms:identifier2100220hasNotificationNumber41
- rdfs:label + dcterms:description - "็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค" + "ๅคงๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใฎๆœ‰็—…็Ž‡ใฏ2-3%ใจใ‚‚่จ€ใ‚ใ‚Œใ€ๅคงๅ‹•่„ˆๅผใซ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ไบบๅฃใฏๅฐ‘ใชใใชใ„ใŒใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใฎใฏใใฎไธ€้ƒจใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใƒป่ƒŽๅ…ๆœŸใ‹ใ‚‰้‡็—‡ๅฟƒไธๅ…จ๏ผˆไฝŽๅฟƒๆ‹ๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใงใฏ็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€่ปฝใƒปไธญ็ญ‰็—‡ใซใŠใ„ใฆใ‚‚ๅŠ ้ฝขใจใจใ‚‚ใซ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใใ€้‹ๅ‹•ๆ™‚ๆฏๅˆ‡ใ‚Œใ€ๆ˜“็–ฒๅŠดๆ„Ÿใ‹ใ‚‰้‹ๅ‹•ๆ™‚่ƒธ็—›ใ€ๅคฑ็ฅžใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚Šๆ™‚ใซ็ช็„ถๆญปใ‚’่ตทใ“ใ™ใ€‚ไธญ็ญ‰็—‡ไปฅไธŠใซใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๅค–็ง‘็š„ๆฒป็™‚๏ผˆๅค–็ง‘็š„ไบค้€ฃๅˆ‡้–‹่ก“ใ‚ใ‚‹ใ„ใฏๅผ็ฝฎๆ›่ก“๏ผ‰ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214
- - - - - + + + + + - - - - - - -
http://nanbyodata.jp/ontology/nando#2100221 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100221NANDO:2200306
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_093_01.pdf
rdfs:label - "ๆ—ฉ่€็—‡" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214
- - - - - - + "Aortic valve stenosis" + @en + "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100222 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100222
rdfs:label - "Leukoencephalopathy caused by genetic abnormalities" - @en
rdfs:label - "้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡" + "ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0042981
skos:prefLabel - "้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡" + "ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100223 +
http://nanbyodata.jp/ontology/NANDO_2200307 (rdf:type owl:Class @@ -87530,41 +137694,74 @@

hasNotificationNumber42
+ dcterms:description + "ๅคงๅ‹•่„ˆๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šๅคงๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใงใฏๅŠ ้ฝขใจใจใ‚‚ใซใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™็Ž‡ใŒไธŠใŒใฃใฆใใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ๏ผˆไพ‹ใˆใฐใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅคง่ก€็ฎก่ปขๆ›็—‡Jatene่ก“ๅพŒใชใฉ๏ผ‰ใ‚„็ตๅˆ็น”็—…๏ผˆMarfan็—‡ๅ€™็พคใชใฉ๏ผ‰ใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคๅฎน้‡่ฒ ่ทไพ‹ใงใฏใ€้€†ๆตใฎ้€ฒ่กŒใ‚’้˜ฒใ็›ฎ็š„ใง่ก€็ฎกๆ‹กๅผต่–ฌใŒๆŠ•ไธŽใ•ใ‚Œใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจใ€ไธ€่ˆฌ็š„ใซใฏๅคงๅ‹•่„ˆๅผ็ฝฎๆ›่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆๆ‹กๅคงใฎๅผทใ„ๅ ดๅˆใซใฏไธŠ่กŒๅคงๅ‹•่„ˆๅŸบ้ƒจ็ฝฎๆ›่ก“(Bentallๆ‰‹่ก“)ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" + @ja
dcterms:identifier2100223NANDO:2200307
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_094_01.pdf
rdfs:label - "ATR-X syndrome" + "Aortic valve regurgitation" @en
rdfs:label - "ATR-X็—‡ๅ€™็พค" + "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_094/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100105
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005648
skos:prefLabel - "ATR-X็—‡ๅ€™็พค" + "ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100224 +
http://nanbyodata.jp/ontology/NANDO_2200308 (rdf:type owl:Class @@ -87572,46 +137769,74 @@

hasNotificationNumber55
+ dcterms:description + "ๅƒงๅธฝๅผ่ผช็›ดไธŠใฎๅฟƒๆˆฟๅดใซ่ตทๅง‹ใ™ใ‚‹่†œ็”จใฎ้š†่ตท็‰ฉใŒๅ…จๅ‘จๆ€งใซๅƒงๅธฝๅผใ‚’่ฆ†ใ„ใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็‹ญ็ช„็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ่†œๆง˜็‰ฉใฏๅทฆๅฟƒ่€ณใ‚ˆใ‚Šใ‚‚ๅƒงๅธฝๅผๅดใซใ‚ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉใฎไป–ใฎๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆœ‰ๆ„ใช็‹ญ็ช„ใงใ€่‚บใ†ใฃ่ก€ใ‚„่‚บ้ซ˜่ก€ๅœงใ‚’ใใŸใ™ไพ‹ใงใฏใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100224NANDO:2200308
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_64_095_01.pdf
rdfs:label - "Fragile X syndrome" + "Supramitral ring" @en
rdfs:label - "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" + "ใใ†ใผใ†ในใ‚“ในใ‚“ใ˜ใ‚‡ใ†ใ‚Šใ‚“" + @ja-Hira
+ rdfs:label + "ๅƒงๅธฝๅผๅผไธŠ่ผช" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00465https://www.shouman.jp/disease/details/04_64_095/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100106
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020400
skos:prefLabel - "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" + "ๅƒงๅธฝๅผๅผไธŠ่ผช" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100225 +
http://nanbyodata.jp/ontology/NANDO_2200309 (rdf:type owl:Class @@ -87619,41 +137844,74 @@

hasNotificationNumber75
+ dcterms:description + "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2100225NANDO:2200309
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_65_096_01.pdf
rdfs:label - "Inherited GPI deficiency" + "Asplenia syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡" + "ใ‚€ใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็„ก่„พ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200674
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_65_096/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100107
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡" + "็„ก่„พ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2100226 +
http://nanbyodata.jp/ontology/NANDO_2200310 (rdf:type owl:Class @@ -87661,46 +137919,74 @@

hasNotificationNumber74
+ dcterms:description + "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2100226NANDO:2200310
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_65_097_01.pdf
rdfs:label - "Cerebral creatine deficiency syndrome" + "Polysplenia syndrome" @en
rdfs:label - "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" + "ใŸใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš่„พ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00849http://nanbyodata.jp/ontology/NANDO_1200673
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_65_097/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100107
skos:prefLabel - "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" + "ๅคš่„พ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100227 +
http://nanbyodata.jp/ontology/NANDO_2200311 (rdf:type owl:Class @@ -87708,41 +137994,76 @@

hasNotificationNumber90
+ dcterms:description + "2ๅฟƒๅฎคไฟฎๅพฉใŒไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€ๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹็–พๆ‚ฃใซๅฏพใ—ใฆใ€Fontanๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Fontanๆ‰‹่ก“ใซใฏใ€ๅฟƒๆˆฟใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใ‚„ใ€ไธŠๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ€ไธ‹ๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใชใฉใŒใ‚ใ‚‹ใ€‚Fontan่ก“ๅพŒใ€ไธปใซ้ ้š”ๆœŸใซใ€ไธๆ•ด่„ˆใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€่ก€ๆ “ๅกžๆ “็—‡ใ€่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ€ๅฟƒไธๅ…จใ€่‚บ้ซ˜่ก€ๅœงใ€่‚็กฌๅค‰ใ€่‚ใŒใ‚“ใ€่…Žไธๅ…จใชใฉๅ…จ่บซใฎ่‡“ๅ™จไธๅ…จใ‚’ใใŸใ™็—‡ๅ€™็พคใ€‚ๆ นๆœฌๆฒป็™‚ใŒ็„กใ„ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100227NANDO:2200311
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_66_098_01.pdf
rdfs:label - "craniosynostosis" + "Post-Fontan syndrome" @en
rdfs:label - "้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + "ใตใ‰ใ‚“ใŸใ‚“ใ˜ใ‚…ใคใ”ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_66_098/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100108
+ skos:altLabel + "Fontan่ก“ๅพŒ็—‡ๅ€™็พค" + @ja
skos:prefLabel - "้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100228 +
http://nanbyodata.jp/ontology/NANDO_2200312 (rdf:type owl:Class @@ -87750,46 +138071,74 @@

hasNotificationNumber5
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100228NANDO:2200312
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_01_001_01.pdf
rdfs:label - "Moyamoya Disease" + "Congenital hypopituitarism" @en
rdfs:label - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01396https://www.shouman.jp/disease/details/05_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100110
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018762
skos:prefLabel - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" + "ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100229 +
http://nanbyodata.jp/ontology/NANDO_2200313 (rdf:type owl:Class @@ -87797,41 +138146,74 @@

hasNotificationNumber4
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100229NANDO:2200313
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_01_002_01.pdf
rdfs:label - "Cerebral arteriovenous malformation" + "Acquired hypopituitarism" @en
rdfs:label - "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" + "ใ“ใ†ใฆใ‚“ใ›ใ„ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100110
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019832
skos:prefLabel - "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" + "ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100230 +
http://nanbyodata.jp/ontology/NANDO_2200314 (rdf:type owl:Class @@ -87839,41 +138221,79 @@

hasNotificationNumber6
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใฏ๏ผŒ้ชจ็ซฏ่ปŸ้ชจ็ทšใŒ้–‰้Ž–ใ™ใ‚‹ๅ‰ใซ็™บ็—‡ใ—ใ€ไธปใซไธ‹ๅž‚ไฝ“ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)็”ฃ็”Ÿ่…บ่…ซใซใ‚ˆใ‚‹้ซ˜่บซ้•ท็—‡ใงใ‚ใ‚‹๏ผŽ้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซ็™บ็—‡ใ—ใŸๅ ดๅˆใซใฏ๏ผŒๅ…ˆ็ซฏๅทจๅคง็—‡ใจใชใ‚‹๏ผŽๅ…ˆ็ซฏๅทจๅคง็—‡ใจใฎ้•ใ„ใฏ๏ผŒๅฐๅ…ๆœŸใซใŠใ„ใฆใฏๅ‰ฏ็—‡ๅ€™ใŒ่‘—ๆ˜Žใงใฏใชใ๏ผŒ่บซ้•ท็™บ่‚ฒใŒ็ฎธๆ˜Žใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹๏ผŽ" + @ja
dcterms:identifier2100230NANDO:2200314
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_02_003_01.pdf
rdfs:label - "Cavernous angioma of the brain and spinal cord" + "Pituitary gigantism" @en
rdfs:label - "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" + "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใใ‚‡ใ˜ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01618
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_02_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100111
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020479
skos:prefLabel - "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" + "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100231 +
http://nanbyodata.jp/ontology/NANDO_2200315 (rdf:type owl:Class @@ -87881,46 +138301,79 @@

hasNotificationNumber55
+ dcterms:description + "ๅ…ˆ็ซฏๅทจๅคง็—‡(acromegaly)ใฏใ€้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ใŒ้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽๆ‰‹่ถณๆœซ็ซฏใฎ่‚ฅๅคงใ‚„้ก”่ฒŒใฎๅค‰ๅŒ–ใซๅŠ ใˆใฆ๏ผŒ็ณ–ๅฐฟ็—…ใชใฉใฎไปฃ่ฌ็•ฐๅธธ๏ผŒๅฟƒ่‚ฅๅคงใ‚„ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใชใฉใฎๅพช็’ฐๅ™จใ‚„ๅ‘ผๅธๅ™จๅˆไฝต็—‡๏ผŒๆ›ดใซ่…ซ็˜ใฎ็™บ่‚ฒใ‚’ไฟƒ้€ฒใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ ๆณจ๏ผš้ชจ็ซฏ็ทš้–‰้Ž–ๅ‰ใซGHใฎ้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใšใ‚‹ใจ้ซ˜่บซ้•ทใจใชใ‚Š๏ผŒไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100231NANDO:2200315
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_03_004_01.pdf
rdfs:label - "spinal muscular atrophy" + "Acromegaly" @en
rdfs:label - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" + "ใ›ใ‚“ใŸใ‚“ใใ‚‡ใ ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆ็ซฏๅทจๅคง็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00455https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01483
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_03_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100112
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019933
skos:prefLabel - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" + "ๅ…ˆ็ซฏๅทจๅคง็—‡" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100232 +
http://nanbyodata.jp/ontology/NANDO_2200316 (rdf:type owl:Class @@ -87928,69 +138381,76 @@

- dcterms:identifier2100232hasNotificationNumber45
- rdfs:label + dcterms:description - "ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ ญ่“‹็…งๅฐ„ใฎๆ—ขๅพ€๏ผŒ้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œ้ ญ้ƒจMRIๆคœๆŸปใงไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งGHDใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใ๏ผ‰ใง่ฟฐในใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214
- - - - - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100233 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100233NANDO:2200316
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_005_01.pdf
rdfs:label - "Muscular dystrophy" + "Growth hormone deficiency caused by cerebral organic disorders" @en
rdfs:label - "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฎใ†ใฎใใ—ใคใฆใใ’ใ‚“ใ„ใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใŒใŽใ‚‹ใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_04_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100113
+ skos:altLabel + "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + @ja
skos:prefLabel - "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" @ja
- - + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100234 +
http://nanbyodata.jp/ontology/NANDO_2200317 (rdf:type owl:Class @@ -87998,46 +138458,74 @@

hasNotificationNumber45
dcterms:identifier2100234NANDO:2200317
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_005_01.pdf
rdfs:label - "congenital structural myopathy" + "congenital growth hormone deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใใ—ใคใฆใใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01810https://www.shouman.jp/disease/details/05_04_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2200316
+ skos:altLabel + "ๅ™จ่ณช็š„GHD" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000050
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100235 +
http://nanbyodata.jp/ontology/NANDO_2200318 (rdf:type owl:Class @@ -88045,41 +138533,76 @@

hasNotificationNumber46
+ dcterms:description + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ€้ ญ้ƒจMRIๆคœๆŸปใง๏ผŒไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹๏ผ‰ใซๅซใพใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100235NANDO:2200318
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_006_01.pdf
rdfs:label - "Schwartz-Jampel syndrome" + "Growth hormone deficiency not caused by cerebral organic disorders" @en
rdfs:label - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พค" + "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฎใ†ใฎใใ—ใคใฆใใ’ใ‚“ใ„ใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_04_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100113
+ skos:altLabel + "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" + @ja
skos:prefLabel - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พค" + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰" @ja
- - + + + + + - + + + + + - - - - + "Idiopathic growth hormone deficiency" + @en - -
http://nanbyodata.jp/ontology/nando#2100236 +
http://nanbyodata.jp/ontology/NANDO_2200319 (rdf:type owl:Class @@ -88087,60 +138610,69 @@

hasNotificationNumber46
dcterms:identifier2100236NANDO:2200319
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_006_01.pdf
rdfs:label - "้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214
- - - - - + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100237 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100237 + rdfs:label + "ใจใใฏใคใ›ใ„ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label - "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“" + "็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00810https://www.shouman.jp/disease/details/05_04_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2200318
+ skos:altLabel + "็‰น็™บๆ€งGHD" + @ja
+ skos:prefLabel + "็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100238 +
http://nanbyodata.jp/ontology/NANDO_2200320 (rdf:type owl:Class @@ -88148,46 +138680,86 @@

hasNotificationNumber43
+ dcterms:description + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณ๏ผˆGH๏ผ‰ใฎไฝœ็”จใ‚’ไปฒไป‹ใ™ใ‚‹ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1(IGF1)๏ผˆๅพ“ๆฅใฏใ‚ฝใƒžใƒˆใƒกใ‚ธใƒณC๏ผ‰ใฎๅ—ๅฎนไฝ“ใ‚ใ‚‹ใ„ใฏใใ‚Œไปฅ้™ใฎ้šœๅฎณใซใ‚ˆใ‚Šใ€่ƒŽๅ†…็™บ่‚ฒ้…ๅปถใจไฝŽ่บซ้•ทใ‚’ใใŸใ™็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2100238NANDO:2200320
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_05_007_01.pdf
rdfs:label - "Spinocerebellar degeneration" + "IGF1 insensitivity" @en
rdfs:label - "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + "ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‚ˆใ†ใ›ใ„ใกใ‚‡ใ†ใ„ใ‚“ใ—1ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01616http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3020
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_05_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100114
+ skos:altLabel + "IGF๏ผ1ไธๅฟœ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010038
skos:prefLabel - "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + "ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100239 +
http://nanbyodata.jp/ontology/NANDO_2200321 (rdf:type owl:Class @@ -88195,46 +138767,74 @@

hasNotificationNumber44
+ dcterms:description + "็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™ใ€ใ‚ใ‚‹ใ„ใฏGHๆŠตๆŠ—ๆ€งใ‚’็คบใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚GHๅ—ๅฎนไฝ“ใŠใ‚ˆใณใใ‚Œไปฅ้™ใฎ็ดฐ่ƒžๅ†…ๆƒ…ๅ ฑไผ้”ๅˆ†ๅญใฎ็•ฐๅธธใŠใ‚ˆใณๅ…ˆๅคฉๆ€งIGF-I็”ฃ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใณ๏ผŒ GHใŠใ‚ˆใณGHๅ—ๅฎนไฝ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผŒๆ „้คŠไธ่‰ฏ๏ผŒ่‚็–พๆ‚ฃ๏ผŒ็ณ–ๅฐฟ็—…ใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซGHๆŠตๆŠ—ๆ€งใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆไบŒๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚1966ๅนดใซLaronใซใ‚ˆใฃใฆ๏ผŒไฝŽ่บซ้•ท๏ผŒ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚1989ๅนดใ€ๆœฌ็–พๆ‚ฃใฏGHๅ—ๅฎนไฝ“้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใใ‚‰ใ‹ใจใชใฃใŸใ€‚GHใ‚ทใ‚ฐใƒŠใƒซใŒๅๅˆ†ใซไผ้”ใ•ใ‚Œใชใ„ใŸใ‚ใ€GHๅˆ†ๆณŒไธๅ…จใจๅŒๆง˜ใฎ็‰นๅพดใ‚ใ‚‹็—‡็Šถ๏ผŒๆ‰€่ฆ‹ใ‚’็คบใ™ใ€‚Laronๅž‹ไฝŽ่บซ้•ท็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100239NANDO:2200321
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_05_008_01.pdf
rdfs:label - "alternating hemiplegia of childhood" + "Growth hormone insensitivity" @en
rdfs:label - "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00998https://www.shouman.jp/disease/details/05_05_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100114
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015892
skos:prefLabel - "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100240 +
http://nanbyodata.jp/ontology/NANDO_2200322 (rdf:type owl:Class @@ -88242,41 +138842,86 @@

hasNotificationNumber33
+ dcterms:description + "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณใฏใ€ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒ็ดฐ่ƒžใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ€่ฆ–ๅบŠไธ‹้ƒจใ‹ใ‚‰ใฎๆŠ‘ๅˆถ็š„ใช่ชฟ็ฏ€ใ‚’ใ†ใ‘ใฆใ„ใ‚‹ใ€‚้‡ๅบฆใฎ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ใฏใ€ใใฎๅคšใใŒใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซ๏ผˆใƒ—ใƒญใƒฉใ‚ฏใƒใƒŽใƒผใƒž๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100240NANDO:2200322
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_06_009_01.pdf
rdfs:label - "dystonia musculorum deformans" + "Hyperprolactinemia" @en
rdfs:label - "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" + "ใ“ใ†ใทใ‚ใ‚‰ใใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01388
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_06_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100115
+ skos:altLabel + "Hyperprolactinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005804
skos:prefLabel - "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" + "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + - + - -
http://nanbyodata.jp/ontology/nando#2100241 +
http://nanbyodata.jp/ontology/NANDO_2200323 (rdf:type owl:Class @@ -88284,74 +138929,100 @@

hasNotificationNumber34
+ dcterms:description + "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆsyndrome of inappropriate secretion of ADH: SIADH๏ผ‰ใฏใ€ไฝŽๆตธ้€ๅœง่ก€็—‡ไธ‹ใงใ‚‚ADHใฎๅˆ†ๆณŒใŒๆŠ‘ๅˆถใ•ใ‚Œใšใ€ๆฐดๅˆฉๅฐฟไธๅ…จใ‚’็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฎใ†ใกใ€ไฝ“ๅ†…ใƒŠใƒˆใƒชใ‚ฆใƒ ้‡ใซๅค‰ๅ‹•ใฎ็„กใ„ใ€็จ€้‡ˆๆ€งใฎไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100241NANDO:2200323
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_07_010_01.pdf
rdfs:label - "่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ" + "Syndrome of inappropriate secretion of antidiuretic hormone" + @en
+ rdfs:label + "ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00833http://nanbyodata.jp/ontology/NANDO_1200376
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_07_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100116
- - - - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2100242 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100242 + skos:altLabel + "ADHๅˆ†ๆณŒไบข้€ฒ็—‡" + @ja
- rdfs:label + skos:altLabel - "infantile bilateral striatal necrosis" + "SIADH" @en
- rdfs:label + skos:altLabel - "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" + "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006802
skos:prefLabel - "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" + "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100243 +
http://nanbyodata.jp/ontology/NANDO_2200324 (rdf:type owl:Class @@ -88359,69 +139030,79 @@

- dcterms:identifier2100243hasNotificationNumber75
- rdfs:label + dcterms:description - "ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡" + "ไธ‹ๅž‚ไฝ“ๅพŒ่‘‰ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹arginine vasopressin (AVP) ใฎๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚Šใ€่…Ž้›†ๅˆ็ฎกใงใฎๆฐดๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ€ไฝŽๆตธ้€ๅœงๅฐฟใŒๅคš้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214
- - - - - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100244 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100244NANDO:2200324
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_08_011_01.pdf
rdfs:label - "Aicardi-Goutieres syndrome" + "Central diabetes insipidus" @en
rdfs:label - "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ๏ผˆAicardi-Goutieres๏ผ‰็—‡ๅ€™็พค" + "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200375
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_08_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100117
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015790
skos:prefLabel - "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ๏ผˆAicardi-Goutieres๏ผ‰็—‡ๅ€™็พค" + "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + - + + "Adipsic hypernatraemia" + @en - -
http://nanbyodata.jp/ontology/nando#2100245 +
http://nanbyodata.jp/ontology/NANDO_2200325 (rdf:type owl:Class @@ -88429,88 +139110,102 @@

hasNotificationNumber73
+ dcterms:description + "้€šๅธธใ€่ก€ๆธ…ใพใŸใฏ่ก€ๆผฟไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏใฉใฎๅนดไปฃใซใŠใ„ใฆใ‚‚135ใ€œ145mEq/lใซใ‚ณใƒณใƒˆใƒญใƒผใƒซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏ่ก€ๆถฒใฎๆตธ้€ๅœงใ‚’ไธ€ๅฎšใซไฟใคใฎใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใŸใ‚ใ€่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚Œใฐๅฃๆธ‡ไธญๆžขใŒๅƒใใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซ้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‹ใ€‚่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ€็‰นใซๆญฃไธญๅฅ‡ๅฝขใ‚„่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚Šๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒ่ตทใ“ใ‚‹ใจใ€้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‰ใชใ„ใŸใ‚ใซ้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅบƒ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจๅ‘ผใถใ€‚ใ•ใ‚‰ใซ็‹ญ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฏใ€ๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒใ‚ใ‚‹ใ“ใจใซๅŠ ใˆใ€ๆ˜Žใ‚‰ใ‹ใชๆฐดๅˆ†ๆ‘‚ๅ–ไธๅ…จใŒใชใใฆใ‚‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๅ€คใฎๅค‰ๅ‹•ใ‚’่ฆ‹ใ‚‹ใ‚‚ใฎใงใ€ๅŒไธ€ใฎ็—‡ไพ‹ใงไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚‚ไฝต็™บใ—ใ†ใ‚‹ใ€‚็—…ๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ๅˆฉๅฐฟใƒšใƒ—ใƒใƒ‰ใ‚„ๆœช็Ÿฅใฎๅ› ๅญใฎไฝœ็”จใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100245NANDO:2200325
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_08_012_01.pdf
rdfs:label - "subacute sclerosing panencephalitis" + "Adipsic hypernatremia" @en
rdfs:label - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" + "ใ“ใ†ใ‹ใคใกใ‚…ใ†ใ™ใ†ใ—ใ‚‡ใ†ใŒใ„ใ‚’ใจใ‚‚ใชใ†ใ“ใ†ใชใจใ‚Šใ†ใ‚€ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01696https://www.shouman.jp/disease/details/05_08_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100117
- skos:prefLabel + skos:altLabel - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" - @ja
- - - - - + + - + + "ๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡" + @ja - + - - + +
http://nanbyodata.jp/ontology/nando#2100246 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100246 + skos:altLabel + "Essential hypernatremia" + @en
- rdfs:label + skos:altLabel - "Rasmussen encephalitis" - @en
- rdfs:label + skos:altLabel - "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผˆRasmussen๏ผ‰่„ณ็‚Ž" + "็„ก้ฃฒ็—‡ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018620
skos:prefLabel - "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผˆRasmussen๏ผ‰่„ณ็‚Ž" + "ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100247 +
http://nanbyodata.jp/ontology/NANDO_2200326 (rdf:type owl:Class @@ -88518,41 +139213,74 @@

hasNotificationNumber74
+ dcterms:description + "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2100247NANDO:2200326
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_08_013_01.pdf
rdfs:label - "Acute encephalopathy with biphasic seizures and late reduced diffusion" + "Nephrogenic diabetes insipidus" @en
rdfs:label - "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + "ใ˜ใ‚“ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…Žๆ€งๅฐฟๅดฉ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_08_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100117
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016383
skos:prefLabel - "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + "่…Žๆ€งๅฐฟๅดฉ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100248 +
http://nanbyodata.jp/ontology/NANDO_2200327 (rdf:type owl:Class @@ -88560,41 +139288,69 @@

hasNotificationNumber67
+ dcterms:description + "ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃ็ฝนๆ‚ฃๆ™‚ใ‚ใ‚‹ใ„ใฏ็ฝนๆ‚ฃๅพŒใซใ€ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’ๆฅใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎไธปใŸใ‚‹็—…ๅ› ใจใ—ใฆใ€ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆSIADH๏ผ‰ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚SIADHใงใฏใ€ADHใŒไธ้ฉๅˆ‡ใซๅคšใๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๆฐดๅˆ†่ฒฏ็•™ใ‚’ๆฅใ™ใ€‚ไธ€ๆ–นใ€ๅฐฟไธญใฎๅกฉๆŽ’ๆณ„ใŒไบข้€ฒใ—ใ€็ดฐ่ƒžๅค–ๆถฒใŒๆธ›ๅฐ‘ใ—ใฆไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจ่„ฑๆฐด็—‡ใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใ‚’ใ€ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค๏ผˆCSW๏ผ‰ใจๅ‘ผใณใ€SIADHใจๅŒบๅˆฅใ—ใฆใ„ใ‚‹ใ€‚ใ€€SIADHใงใ‚‚ใ€่ฒฏ็•™ใ—ใŸๆฐดๅˆ†ใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ—ใฆใ€ๅฐฟไธญNaๆŽ’ๆณ„ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚SIADHใฎ่จบๆ–ญใซใ€ๅฐฟไธญNaใŒ20 mEq/lใŒๅซใพใ‚Œใฆใ„ใ‚‹ใฎใฏใ“ใฎใŸใ‚ใงใ‚ใ‚‹ใ€‚CSWใฏSIADHใซใŠใ‘ใ‚‹NaๆŽ’ๆณ„ใŒใ•ใ‚‰ใซไบข้€ฒใ—ใ€ๅคง้‡ใฎNaใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ™ใ‚‹ใŸใ‚ใซไฝŽNaใŒๆ‚ชๅŒ–ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€SIADHใฎๅปถ้•ทไธŠใซใ‚ใ‚‹็—…ๆ…‹ใงใ‚ใ‚Š็‹ฌ็ซ‹ใ—ใŸ็—…ๆ…‹ใงใฏ็„กใ„ใ€ใจใ„ใ†่€ƒใˆๆ–นใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ไฝ“ๆถฒ้‡ใซใคใ„ใฆใฏๆฐดๅˆ†้Žๅ‰ฐใงใ‚ใ‚‹ใ‹ใ€่„ฑๆฐดใงใ‚ใ‚‹ใ‹ใจใ„ใ†้€†ใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€ๆฒป็™‚ๆณ•ใ‚‚็•ฐใชใ‚‹ใŸใ‚ใ€ไบŒใคใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใŒ่‡จๅบŠไธŠใฏใ‚ใ‹ใ‚Šใ‚„ใ™ใ„ใ€‚" + @ja
dcterms:identifier2100248NANDO:2200327
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_09_014_01.pdf
rdfs:label - "Autoimmune encephalitis" + "Cerebral salt wasting syndrome" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡" + "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใˆใ‚“ใใ†ใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_09_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100118
skos:prefLabel - "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡" + "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100249 +
http://nanbyodata.jp/ontology/NANDO_2200328 (rdf:type owl:Class @@ -88602,46 +139358,88 @@

hasNotificationNumber24
+ dcterms:description + "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใƒใ‚ปใƒ‰ใ‚ฆใฏใ“ใฎ็—…ๆฐ—ใ‚’็ ”็ฉถๅ ฑๅ‘Šใ—ใŸใƒ‰ใ‚คใƒ„ไบบๅŒปๅธซใฎๅใงใ€่‹ฑ่ชžๅœใงใฏใ‚‚ใ†ไธ€ไบบใฎ็ ”็ฉถ่€…ใงใ‚ใ‚‹ใ‚คใ‚ฎใƒชใ‚นไบบๅŒปๅธซใฎๅใ‹ใ‚‰Gravesโ€™diseaseใจ็งฐใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100249NANDO:2200328
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_10_015_01.pdf
rdfs:label - "acute encephalitis with refractory, repetitive partial seizures" + "Basedow disease" @en
rdfs:label - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + "ใฐใ›ใฉใ†ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒใ‚ปใƒ‰ใ‚ฆ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01829https://www.shouman.jp/disease/details/05_10_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100119
+ skos:altLabel + "Basedow็—… " + @ja
+ skos:altLabel + "Graves' disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005364
skos:prefLabel - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + "ใƒใ‚ปใƒ‰ใ‚ฆ็—…" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100250 +
http://nanbyodata.jp/ontology/NANDO_2200329 (rdf:type owl:Class @@ -88649,46 +139447,79 @@

hasNotificationNumber23
+ dcterms:description + "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใใ‚Œไปฅๅค–ใฎๅŽŸๅ› ใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100250NANDO:2200329
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_10_016_01.pdf
rdfs:label - "multiple sclerosis" + "Hyperthyroidism" @en
rdfs:label - "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01490https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01645
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_10_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100119
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004425
skos:prefLabel - "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100251 +
http://nanbyodata.jp/ontology/NANDO_2200330 (rdf:type owl:Class @@ -88696,46 +139527,74 @@

hasNotificationNumber28
+ dcterms:description + "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ‹ๆญฃๆ‰€ๆ€งใงใฏใ‚ใ‚‹ใŒๅฝขๆˆไธๅ…จ๏ผˆ็‰‡่‘‰ๆ€งใ‚‚ๅซใ‚€๏ผ‰ใฎใŸใ‚ใ€ไฝ“ๅ†…ใฎ็”ฒ็Šถ่…บ็ดฐ่ƒžใŒๅๅˆ†้‡ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใ‚’็”ฃ็”Ÿใงใใชใ„ใ“ใจใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ€ๆฌ ๆๆ€งใ‚ใ‚‹ใ„ใฏๅฝขๆˆไธๅ…จใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100251NANDO:2200330
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_017_01.pdf
rdfs:label - "Chronic inflammatory demyelinating polyneuropathy" + "Ectoic thyroid" @en
rdfs:label - "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + "ใ„ใ—ใ‚‡ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01527https://www.shouman.jp/disease/details/05_11_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100120
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019854
skos:prefLabel - "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + "็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100252 +
http://nanbyodata.jp/ontology/NANDO_2200331 (rdf:type owl:Class @@ -88743,46 +139602,81 @@

hasNotificationNumber30
+ dcterms:description + "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚็„ก็”ฒ็Šถ่…บ็—‡ใฏใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใฎไธ€ๅˆ†้กžใงใ‚ใ‚Šใ€่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹็”ฒ็Šถ่…บๅŽŸๅŸบใฎ็™บ็”Ÿ้Ž็จ‹ใซใชใ‚“ใ‚‰ใ‹ใฎ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใซใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใŸใ‚‚ใฎใ€‚็„กๅฝขๆˆใ€็”ฒ็Šถ่…บๆฌ ๆใชใฉใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100252NANDO:2200331
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_018_01.pdf
rdfs:label - "myasthenia gravis" + "Thyroid agenesis" @en
rdfs:label - "้‡็—‡็ญ‹็„กๅŠ›็—‡" + "ใ‚€ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็„ก็”ฒ็Šถ่…บ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01594https://www.shouman.jp/disease/details/05_11_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100214http://nanbyodata.jp/ontology/NANDO_2100120
+ skos:altLabel + "athyreosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019855
skos:prefLabel - "้‡็—‡็ญ‹็„กๅŠ›็—‡" + "็„ก็”ฒ็Šถ่…บ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + - + - -
http://nanbyodata.jp/ontology/nando#2100253 +
http://nanbyodata.jp/ontology/NANDO_2200332 (rdf:type owl:Class @@ -88790,69 +139684,86 @@

hasNotificationNumber29
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ไธญๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผณ๏ผจ๏ผ‰ใซใ‚ˆใ‚‹ๅˆบๆฟ€ใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใ€็”ฒ็Šถ่…บ่‡ชไฝ“ใฏๆญฃๅธธใงใ‚ใฃใฆใ‚‚ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่งฃๅ‰–ๅญฆ็š„ใ€ๆฉŸ่ƒฝ็š„้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅพ“ๆฅใ€ไธ‹ๅž‚ไฝ“ใซ้šœๅฎณใŒใ‚ใฃใฆ๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใซ็”Ÿใ˜ใ‚‹ไธ‹ๅž‚ไฝ“ๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚‹็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ้Š้›ขใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผฒ๏ผจ๏ผ‰ไฝŽไธ‹ใŒ้–“ๆŽฅ็š„ใซ๏ผด๏ผณ๏ผจๅˆ†ๆณŒไฝŽไธ‹ใ‚’ๆฅใ™่ฆ–ๅบŠไธ‹้ƒจๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใฆใ„ใŸใ€‚ใ—ใ‹ใ—ใ€ๅ‰่€…ใงใฏ๏ผด๏ผฒ๏ผจ่ฉฆ้จ“ใซใ‚ˆใ‚‹๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใ€ๅพŒ่€…ใงใฏ้Žๅคงๅๅฟœใ‚’็คบใ™ใจใ„ใ†ใ€ใ“ใ‚Œใพใงใฎ่€ƒใˆๆ–นใงใฏ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ไธก่€…ใฎ๏ผด๏ผณ๏ผจๅˆ†ๆณŒๅๅฟœใซ้‡ใชใ‚ŠใŒใ‚ใ‚‹ใ“ใจใ€ใพใŸ๏ผด๏ผณ๏ผจใฎ้‡็š„ไฝŽไธ‹ใ ใ‘ใงใชใ็”Ÿ็‰ฉๅญฆ็š„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ‚‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใชใฉใ‹ใ‚‰ใ€ไธก่€…ใ‚’ๅŒบๅˆ†ใ›ใšใซไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆTSH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹็—‡ใฏไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒ็พฉใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100253NANDO:2200332
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_019_01.pdf
rdfs:label - "Chronic digestive disease" + "Thyroid-stimulating hormone deficiency" @en
rdfs:label - "ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ" + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200390
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100120
- skos:prefLabel + skos:altLabel - "ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ" + "TSHๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- - - - - + + - + - - - -
http://nanbyodata.jp/ontology/nando#2100254 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100254 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016410
- rdfs:label + skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅธๅŽไธๅ…จ็—‡" + "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100255 +
http://nanbyodata.jp/ontology/NANDO_2200333 (rdf:type owl:Class @@ -88860,41 +139771,67 @@

hasNotificationNumber29
dcterms:identifier2100255NANDO:2200333
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_019_01.pdf
rdfs:label - "microvillus inclusion disease" + "congenital hypothyroidism" @en
rdfs:label - "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2200332
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018612
skos:prefLabel - "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" + "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + "17ใ‹ใ‚‰19ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100256 +
http://nanbyodata.jp/ontology/NANDO_2200334 (rdf:type owl:Class @@ -88902,41 +139839,69 @@

hasNotificationNumber31
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ใ€Œ16ใ‹ใ‚‰18ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ใจใ—ใฆใฏใ€ๆฐธ็ถšๆ€งๅŽŸ็™บๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆpermanent primary congenital hypothyroidism๏ผšไปฅไธ‹ใ€ๅŽŸ็™บๆ€ง๏ผฃ๏ผจ๏ผ‰ใฎไธญใงใ€ไธ‹่จ˜ใฎ็—…ๅ› ใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽ็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธใฎใ†ใกไฝŽๅฝขๆˆใ€็‰‡่‘‰ๆฌ ๆ๏ผ’๏ผŽ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณ๏ผ“๏ผŽๆฉŸ่ƒฝๅ–ชๅคฑๅž‹TSHๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใฎๆฌ ๆ็ญ‰ใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ใ€€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ้‡่ฆใชๆง‹ๆˆ่ฆ็ด ใงใ‚ใ‚‹ใƒจใƒผใƒ‰๏ผˆใƒจใ‚ฆ็ด ๏ผ‰ใŒใ€่ก€ๆถฒไธญใ‹ใ‚‰็”ฒ็Šถ่…บๆฟพ่ƒž็ดฐ่ƒžไธญใซๅ–ใ‚Š่พผใพใ‚Œใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใจใชใฃใฆ่ก€ๆถฒไธญใซๆ”พๅ‡บใ•ใ‚Œใ‚‹ใพใงใฎไธ€้€ฃใฎ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆใƒปๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅคง้ƒจๅˆ†ใฏ้–ขไฟ‚ใ™ใ‚‹้…ต็ด ใชใฉใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ€ไธปใซๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" + @ja
dcterms:identifier2100256NANDO:2200334
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_020_01.pdf
rdfs:label - "Intestinal Lymphangiectasia" - @en
rdfs:label - "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" + "17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:label + "Other Congenital hypothyroidism" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100120
skos:prefLabel - "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" + "17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100257 +
http://nanbyodata.jp/ontology/NANDO_2200335 (rdf:type owl:Class @@ -88944,41 +139909,84 @@

hasNotificationNumber26
+ dcterms:description + "ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใฏใ€่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž(autoimmune thyroiditis)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚1912 ๅนดใซๆฉ‹ๆœฌ็ญ–ๅšๅฃซใŒ 4 ๅใฎไธญๅนดๅฅณๆ€งใฎใณใพใ‚“ๆ€ง็”ฒ็Šถ่…บ่…ซใฎ็—…็†ๆ‰€่ฆ‹ใ‚’ใƒชใƒณใƒ‘่…ซๆ€ง็”ฒ็Šถ่…บ่…ซ (struma lymphomatosa) ใจใ—ใฆ็™บ่กจใ—ใŸใฎใŒๆœ€ๅˆใงใ‚ใ‚Šใ€ใใฎ็—…็†ๅญฆ็š„็‰นๅพดใฏใ€็”ฒ็Šถ่…บๅฎŸ่ณชใธใฎใƒชใƒณใƒ‘็ƒๆตธๆฝคใจใƒชใƒณใƒ‘ๆฟพ่ƒžใฎๅฝขๆˆใ€ๆฟพ่ƒžไธŠ็šฎใฎ่Ž็ธฎใจๅฅฝ้…ธๆ€งๅค‰ๆ€งใ€้–“่ณชใฎ็ทš็ถญๅŒ–ใงใ‚ใฃใŸใ€‚ใใฎๅพŒใ€ๆ‚ฃ่€…่ก€ไธญใซๆŠ—็”ฒ็Šถ่…บ่‡ชๅทฑๆŠ—ไฝ“ใŒ่จผๆ˜Žใ•ใ‚Œใ€ๆœฌ็–พๆ‚ฃใฏ่‡ชๅทฑๅ…็–ซๅๅฟœใซใ‚ˆใ‚‹็”ฒ็Šถ่…บใฎๆ…ขๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใจๆฉ‹ๆœฌ็—…ใฏๅŒ็พฉ่ชžใจใ—ใฆไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅ›ฝ้š›็–พ็—…ๅˆ†้กž ICD10 ใงใฏๆฉ‹ๆœฌ็”ฒ็Šถ่…บ็‚Ž (Hashimotoโ€™s thyroiditis) ใจ่กจ่จ˜ใ•ใ‚Œใ€ใ“ใ‚ŒใŒๅญฆ่ก“็”จ่ชžใจใ—ใฆๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100257NANDO:2200335
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf
rdfs:label - "Polyposis" + "Hashimoto disease" @en
rdfs:label - "ใƒใƒชใƒใƒผใ‚ทใ‚น" + "ใฏใ—ใ‚‚ใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฉ‹ๆœฌ็—…" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=688
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00081
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100120
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007699
skos:prefLabel - "ใƒใƒชใƒใƒผใ‚ทใ‚น" + "ๆฉ‹ๆœฌ็—…" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100258 +
http://nanbyodata.jp/ontology/NANDO_2200336 (rdf:type owl:Class @@ -88986,41 +139994,81 @@

hasNotificationNumber25
+ dcterms:description + "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Žใฏ็”ฒ็Šถ่…บ่…ซๅคงใŒใชใ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใซ้™ฅใฃใŸ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Žใงใ‚ใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚’ๆŒ‡ใ™ใ€Œ็‰น็™บๆ€ง็ฒ˜ๆถฒๆฐด่…ซใ€ใจๅŒ็พฉ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็ฒ˜ๆถฒๆฐด่…ซใฏ็šฎไธ‹ใ‚„้–“่ณชใซใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใŒๆฒˆ็€ใ—ใฆๅœง็—•ใ‚’ๆฎ‹ใ•ใชใ„ๆตฎ่…ซ(nonpitting edema)ใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100258NANDO:2200336
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_022_01.pdf
rdfs:label - "Cyclic Vomiting Syndrome" + "Atrophic thyroiditis" @en
rdfs:label - "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" + "ใ„ใ—ใ‚…ใใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100120
+ skos:altLabel + "primary myxedema" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005624
skos:prefLabel - "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" + "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž" @ja
- - + + + + + + + + + - + + + + + + "21ใŠใ‚ˆใณ22ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100259 +
http://nanbyodata.jp/ontology/NANDO_2200337 (rdf:type owl:Class @@ -89028,41 +140076,69 @@

hasNotificationNumber27
+ dcterms:description + "ๅŽŸ็™บๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100259NANDO:2200337
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdf
rdfs:label - "Inflammatory bowel disease" - @en
rdfs:label - "็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" + "21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:label + "Other acquired hypothyroidism" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100120
skos:prefLabel - "็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" + "21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100260 +
http://nanbyodata.jp/ontology/NANDO_2200338 (rdf:type owl:Class @@ -89070,41 +140146,62 @@

hasNotificationNumber27
dcterms:identifier2100260NANDO:2200338
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdf
rdfs:label - "Autoimmune enteropathy (including IPEX syndrome.)" + "radiation-induced hypothyroidism" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰" + "ใปใ†ใ—ใ‚ƒใ›ใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2200337
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰" + "ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100261 +
http://nanbyodata.jp/ontology/NANDO_2200339 (rdf:type owl:Class @@ -89112,46 +140209,62 @@

hasNotificationNumber27
dcterms:identifier2100261NANDO:2200339
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdf
rdfs:label - "Non-specific multiple of the small intestine ulcer disease" + "drug-induced hypothyroidism" @en
rdfs:label - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" + "ใ‚„ใใ–ใ„ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01853https://www.shouman.jp/disease/details/05_11_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2200337
skos:prefLabel - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" + "่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100262 +
http://nanbyodata.jp/ontology/NANDO_2200340 (rdf:type owl:Class @@ -89159,41 +140272,67 @@

hasNotificationNumber27
dcterms:identifier2100262NANDO:2200340
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdf
rdfs:label - "Acute Liver Failure" + "central hypothyroidism" @en
rdfs:label - "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" + "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2200337
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016410
skos:prefLabel - "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" + "ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100263 +
http://nanbyodata.jp/ontology/NANDO_2200341 (rdf:type owl:Class @@ -89201,41 +140340,103 @@

hasNotificationNumber32
+ dcterms:description + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡(Syndrome of Resistance to Thyroid Hormone, ไปฅไธ‹RTH)ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967 ๅนดใ€Refetoff ใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ1ใ€‚ใ“ใฎใ“ใจใ‹ใ‚‰ใ€ๆœฌ็—‡ใฏโ€œใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคโ€ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๅฟœ็ญ”ๆ€งใŒๆธ›ๅผฑใ™ใ‚‹ๅŽŸๅ› ใจใ—ใฆใฏใ€โ‘  ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็ดฐ่ƒžๅ†…ใธใฎๅ–ใ‚Š่พผใฟใ€โ‘ก T4 ใ‹ใ‚‰ๆดปๆ€งๅž‹ใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹T3 ใธใฎ่ปขๆ›ใ€โ‘ข T3 ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“(TR)ใธใฎ็ตๅˆใจใ“ใ‚Œใซ็ถšใๆจ™็š„้บไผๅญใฎ่ปขๅ†™่ชฟ็ฏ€ใ€ใฎใ„ใšใ‚Œใ‹ใฎใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใŒ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ๏ผ“ ใคใฎใ‚นใƒ†ใƒƒใƒ—ใใ‚Œใžใ‚Œใฎ็•ฐๅธธ็—‡ใŒๆ—ขใซๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€ใ€Œ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๆ„Ÿๅ—ๆ€งไฝŽไธ‹็—‡ๅ€™็พคใ€ใจ็ท็งฐใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกRTHใฏใ€ใ‚นใƒ†ใƒƒใƒ—โ‘ข ใฎ้šœๅฎณใ€ใ™ใชใ‚ใกTRใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑ ๅž‹TR(TRฮฑ )ใจTRฮฒใฎ๏ผ’ ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85%ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ๆฎ‹ใ‚Š15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏใ„ใพใ ๆ˜Žใ‚‰ใ‹ใงใฏใชใ„ใŒใ€TRฮฒ้บ1ไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ๏ผˆ ้บไผๅญ็•ฐๅธธใ‚‚ๅซใ‚๏ผ‰ ใงTRฮฒๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚ŒใŸ็ตๆžœ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนด้ ƒใ‹ใ‚‰TRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ2ใ€‚" + @ja
dcterms:identifier2100263NANDO:2200341
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_12_024_01.pdf
rdfs:label - "Neonatal Hemochromatosis" + "Resistance to thyroid hormone" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" + "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200395
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3114
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_12_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100121
+ skos:altLabel + "RTH" + @en
+ skos:altLabel + "Syndrome of Resistance to Thyroid Hormone" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001328
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010131
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" + "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100264 +
http://nanbyodata.jp/ontology/NANDO_2200342 (rdf:type owl:Class @@ -89243,46 +140444,76 @@

hasNotificationNumber54
+ dcterms:description + "็”ฒ็Šถ่…บๅ†…ใซ็ต็ฏ€ใฎๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ่…บ่…ซๆง˜ใซๅข—ๆฎ–ใ‚’็คบใ™้ƒจๅˆ†๏ผŒ้Žๅฝขๆˆใ‚’็คบใ™้ƒจๅˆ†๏ผŒใŠใ‚ˆใณใปใจใ‚“ใฉๆญฃๅธธใฎ้ƒจๅˆ†ใŒๆททๅœจใ™ใ‚‹๏ผŽ็—…็†ๆ‰€่ฆ‹ใจใ—ใฆใฏ๏ผŒ่‚‰็œผ็š„ใซใฏๆ•ฐๅ€‹ใฎ็ต็ฏ€ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผŽ็ต็ฏ€ใฏใ—ใฐใ—ใฐๅ‡บ่ก€๏ผŒๅฃŠๆญป๏ผŒๅšข่ƒžๅฝขๆˆ๏ผŒ็ตๅˆ็น”ๅข—็”Ÿ๏ผŒ็Ÿณ็ฐๆฒˆ็€ใชใฉใฎไบŒๆฌก็š„ๅค‰ๅŒ–ใ‚’ไผดใ†๏ผŽ" + @ja
dcterms:identifier2100264NANDO:2200342
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_13_025_01.pdf
rdfs:label - "Autoimmune hepatitis" + "Adenomatous goiter" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" + "ใ›ใ‚“ใ—ใ‚…ใ‚ˆใ†ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01685https://www.shouman.jp/disease/details/05_13_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100122
+ skos:altLabel + "Adenomatous goitre" + @en
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" + "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" @ja
- - + + + + + + + + + - + + + + + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100265 +
http://nanbyodata.jp/ontology/NANDO_2200343 (rdf:type owl:Class @@ -89290,46 +140521,79 @@

hasNotificationNumber78
+ dcterms:description + "ๅŽŸ็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใฎ่‡ชๅพ‹็š„ใช้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)่ก€็—‡ใ€้ชจไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บใฎ่…บ่…ซใซใ‚ˆใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€้Žๅฝขๆˆใ€็™Œใซใ‚ˆใฃใฆใ‚‚ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚่…ŽๆฉŸ่ƒฝใŒๆญฃๅธธใง้ซ˜Ca่ก€็—‡ใจPTHใฎไธŠๆ˜‡ใจใ„ใ†ไบŒใคใฎ็Šถๆ…‹ใŒใ‚ใ‚Šใ€้ซ˜Caๅฐฟ็—‡ใŒใ‚ใ‚Œใฐใ€ๆœฌ็—‡ใฎๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚" + @ja
dcterms:identifier2100265NANDO:2200343
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_14_026_01.pdf
rdfs:label - "Primary sclerosing cholangitis" + "Hyperparathyroidism" @en
rdfs:label - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01684https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00246
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_14_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100123
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001741
skos:prefLabel - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100266 +
http://nanbyodata.jp/ontology/NANDO_2200344 (rdf:type owl:Class @@ -89337,69 +140601,69 @@

- dcterms:identifier2100266hasNotificationNumber80
- rdfs:label + dcterms:description - "่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ" + "ๅ‰ฏ็”ฒ็Šถ่…บใฎ็™บ็”ŸใŒใชใ„ๅ ดๅˆใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใŒใ€ๆญฃๅธธใงใ‚‚ๅ‰ฏ็”ฒ็Šถ่…บใฏๅฐใ•ใใ€็”ปๅƒใงๆŒ‡ๆ‘˜ใ—ใŒใŸใใ€ๆฌ ๆใ—ใฆใ„ใ‚‹ใจ็ขบๅฎŸใซ็”ปๅƒ่จบๆ–ญใงใใชใ„ใ€‚่ก€ไธญใฎๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใŒๆธฌๅฎšๆ„Ÿๅบฆไปฅไธ‹ใซใชใ‚Šใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š่‘—ใ—ใ„ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ†ใ€‚็”ฒ็Šถ่…บๅ…จๆ‘˜ๅ‡บ่ก“ๆ™‚ใซๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๆฎ‹ๅญ˜ใ•ใ›ใชใ‘ใ‚Œใฐใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆใฎ็Šถๆ…‹ใจใชใ‚‹ใŒใ€้€šๅธธใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใฎไธ€้ƒจใ‚’็•ฐๆ‰€ๆ€งใซ็งปๆคใ™ใ‚‹ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253
- - - - - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100267 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100267NANDO:2200344
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_15_027_01.pdf
rdfs:label - "Congenital hepatic fibrosis" + "Parathyroid gland defect" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" + "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_15_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100124
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" + "ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100268 +
http://nanbyodata.jp/ontology/NANDO_2200345 (rdf:type owl:Class @@ -89407,41 +140671,84 @@

hasNotificationNumber79
+ dcterms:description + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใฎๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹PTHๅˆ†ๆณŒไธๅ…จๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ€ๆจ™็š„่‡“ๅ™จใฎPTHใซๅฏพใ™ใ‚‹ไธๅฟœๆ€งใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกๅŽŸๅ› ใฎไธๆ˜Žใชใ‚‚ใฎใ‚’็‰น็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚ˆใถใŒใ€่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใŸๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใŠใ‚ˆใณ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฎๆฒป็™‚ใฎใŸใ‚ใซใ€ๅ‰ฏ็”ฒ็Šถ่…บใ‚ใ‚‹ใ„ใฏๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๅซใ‚€็”ฒ็Šถ่…บใ‚’ๆ‘˜้™คใ—ใŸๅ ดๅˆใซใ€ๅŒปๅŽŸๆ€งใซๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚PTHๅˆ†ๆณŒใฏ่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚Š่ชฟ็ฏ€ใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใฎๆ„Ÿ็Ÿฅใ‚ทใ‚นใƒ†ใƒ ใฎ้Žๅบฆใฎๆ„Ÿๅ—ๆ€งใฏPTHๅˆ†ๆณŒไฝŽไธ‹ใ‚’ไผดใ„ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡้กžไผผใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100268NANDO:2200345
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_15_028_01.pdf
rdfs:label - "Liver Cirrhosis" + "Hypoparathyroidism" @en
rdfs:label - "่‚็กฌๅค‰็—‡" + "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200775
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_15_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100124
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001220
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015895
skos:prefLabel - "่‚็กฌๅค‰็—‡" + "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100269 +
http://nanbyodata.jp/ontology/NANDO_2200346 (rdf:type owl:Class @@ -89449,41 +140756,79 @@

hasNotificationNumber35
+ dcterms:description + "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค(Autoimmune polyglandular syndrome: APS)ใจใฏใ€่‡ชๅทฑๅ…็–ซๆ€งใฎ็—…ๆ…‹ใซใ‚ˆใ‚Š่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒๅ™จๅฎ˜ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎๅž‹ใซ่‡จๅบŠๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ASP Iๅž‹ใฏ,ๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ฒ˜่†œ็šฎ่†šใ‚ซใƒณใ‚ธใƒ€็—‡ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅ‰ฏ่…Žไธๅ…จ(ใ‚ขใ‚ธใ‚ฝใƒณ็—…)ใ‚’3ๅพดใจใ™ใ‚‹ใ€‚ๅˆฅ็งฐใจใ—ใฆAutoimmune polyendocrinopathy-candidiasis-ectodermal syndrome๏ผˆAPECED๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100269NANDO:2200346
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_16_029_01.pdf
rdfs:label - "portal hypertension" + "Autoimmune polyendocrinopathy type 1" @en
rdfs:label - "้–€่„ˆๅœงไบข้€ฒ็—‡" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 1ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2401
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_16_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100125
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009411
skos:prefLabel - "้–€่„ˆๅœงไบข้€ฒ็—‡" + "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100270 +
http://nanbyodata.jp/ontology/NANDO_2200347 (rdf:type owl:Class @@ -89491,41 +140836,79 @@

hasNotificationNumber36
+ dcterms:description + "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œ๏ผŒ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ตทๅ› ใ—ใŸๅ†…ๅˆ†ๆณŒ่…บใ‚’ๅซใ‚€่ค‡ๆ•ฐ็ต„็น”ใฎๆฉŸ่ƒฝ้šœๅฎณใฎ็‰นๅพด็š„ใช็ต„ๅˆใ›ใงๅฎš็พฉใ•ใ‚Œใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค2ๅž‹ใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡(Addison็—…)๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃ(Basedow็—…๏ผŒๆฉ‹ๆœฌ็—…)๏ผŒ1ๅž‹็ณ–ๅฐฟ็—…๏ผŒๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผŒ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผŒใ‚ปใƒชใ‚ขใƒƒใ‚ฏ็—…ใฎใ†ใก2็จฎ้กžไปฅไธŠใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใพใŸ๏ผŒ2ๅž‹ใ‚’ใ•ใ‚‰ใซไธ‰ใคใซ็ดฐๅˆ†ใ™ใ‚‹็‹ญ็พฉใฎๅˆ†้กžใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚็‹ญ็พฉใฎๅˆ†้กžใงใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใ‚„๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใชใฉใฎ่‡ชๅทฑๅ…็–ซๆ€งๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ2ๅž‹๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใซๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ไปฅๅค–ใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ3ๅž‹๏ผŒ1๏ฝž3ๅž‹ใซ่ฉฒๅฝ“ใ—ใชใ„่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹ๅ ดๅˆใซ4ๅž‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹.็—‡ๅ€™็พคๅใ‹ใ‚‰ใฏๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใซ้™ๅฎšใ•ใ‚Œใ‚‹ๅฐ่ฑกใ‚’ๅ—ใ‘ใ‚‹ใŒ๏ผŒๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ็™ฝๆ–‘๏ผŒ็ฆฟ้ ญ๏ผŒ็ดซ่†œ็‚Ž๏ผŒๆ‚ชๆ€ง่ฒง่ก€ใชใฉๅคšใใฎ้žๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ†ใ‚‹ใ€‚ๆœฌใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏๆททๅŒใ‚’้ฟใ‘ใ‚‹ใŸใ‚๏ผŒ็ตฑไธ€ใ—ใฆ็‹ญ็พฉใฎๅˆ†้กžใ‚’ไฝฟ็”จใ™ใ‚‹ใ“ใจใจใ™ใ‚‹." + @ja
dcterms:identifier2100270NANDO:2200347
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_16_030_01.pdf
rdfs:label - "Congenital Absence of Portal Vein" + "Autoimmune polyendocrinopathy type 2" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 2ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2995
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_16_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100125
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010012
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" + "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100271 +
http://nanbyodata.jp/ontology/NANDO_2200348 (rdf:type owl:Class @@ -89533,41 +140916,79 @@

hasNotificationNumber8
+ dcterms:description + "Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใฎๅพดๅ€™ใฎ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ€ใƒชใƒณๅ€คใซ็•ฐๅธธใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃใ€‚Iaๅž‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅฎถ็ณปใฎไธญใซๅญ˜ๅœจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2100271NANDO:2200348
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_17_031_01.pdf
rdfs:label - "Congenital Hepatoportal Arteriovenous Fistula" + "Pseudopseudohypoparathyroidism" @en
rdfs:label - "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" + "ใŽใ›ใ„ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7158
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_17_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100126
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012912
skos:prefLabel - "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" + "ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100272 +
http://nanbyodata.jp/ontology/NANDO_2200349 (rdf:type owl:Class @@ -89575,41 +140996,79 @@

hasNotificationNumber9
+ dcterms:description + "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใซๅฏพใ—ใฆๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€PTHใŒๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใŒๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’PHPIaใจๅ‘ผใถใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IbใซใŠใ„ใฆใฏใ€AHOๅพดๅ€™ใฏไผดใ‚ใšใ€PTHใฎๆŠตๆŠ—ๆ€งใฏใปใผ่…Ž่‡“ใซ้™ๅฑ€ใ—ใฆใ„ใ‚‹ใ€‚IIๅž‹ใฏใ€cAMPใฎๅๅฟœใŒใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ไฟƒ้€ฒใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—…ๅž‹ใงใ‚ใ‚‹ใŒใ€้žๅธธใซ็จ€ใงใ‚ใ‚Šใ€ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100272NANDO:2200349
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_17_032_01.pdf
rdfs:label - "Crigler-Najjar syndrome" + "Pseudohypoparathyroidism" @en
rdfs:label - "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค" + "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200776
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_17_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100126
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019992
skos:prefLabel - "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค" + "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100273 +
http://nanbyodata.jp/ontology/NANDO_2200350 (rdf:type owl:Class @@ -89617,41 +141076,93 @@

hasNotificationNumber11
+ dcterms:description + "่ฆ–ๅบŠไธ‹้ƒจๅฎคๅ‚ๆ ธใง็”ฃ็”Ÿใ•ใ‚Œใ‚‹CRHใฏไธ‹ๅž‚ไฝ“้–€่„ˆใ‚’็ตŒใฆไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซ่‡ณใ‚Šใ€ACTH็ดฐ่ƒžใซๅƒใ„ใฆACTHใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ACTHใฏๅ…จ่บซใซๅˆ†ๆณŒใ•ใ‚Œๅ‰ฏ่…Ž็šฎ่ณชใซไฝœ็”จใ—ใฆใ‚ณใƒซใƒใ‚พใƒผใƒซใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒใ™ใ€‚ๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ่ก€ไธญใ‚ณใƒซใƒใ‚พใƒผใƒซใฏ่ฆ–ๅบŠไธ‹้ƒจ๏ผไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซไฝœ็”จใ—CRHใจACTHใฎๅˆ†ๆณŒใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ใƒใ‚ฌใƒ†ใ‚ฃใƒ–ใƒ•ใ‚ฃใƒผใƒ‰ใƒใƒƒใ‚ฏใจใ„ใ†ใ€‚ๅ‰ฏ่…Žใ‹ใ‚‰ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๆ…ขๆ€ง็š„ใซๅˆ†ๆณŒ้Žๅ‰ฐใซใชใ‚Šใ€็‰น็•ฐ็š„ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ‚’ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใฎๅ ดๅˆACTHๅˆ†ๆณŒใŒ้Žๅ‰ฐใจใชใ‚ŠไบŒๆฌก็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๅข—ๅŠ ใ™ใ‚‹ๅ ดๅˆใ‚’ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ„ใ€ๅ‰ฏ่…Žใ‹ใ‚‰่‡ชๅพ‹็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚’ACTH้žไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใพใŸใฏๅ‰ฏ่…Žๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซใฏใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTHใŒ่‡ชๅพ‹็š„ใซ้Žๅ‰ฐๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ่…ซ็˜ใ‹ใ‚‰ACTHใŒ้Žๅ‰ฐใซ็”ฃ็”Ÿใƒปๅˆ†ๆณŒใ•ใ‚Œใ‚‹็•ฐๆ‰€ๆ€งACTH็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใซใ›ใ‚ˆใ€่ฆ–ๅบŠไธ‹้ƒจCRHๅˆ†ๆณŒใฏๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใฏๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡ๅ€™ใ‚’็คบใ•ใšใ€ไธ‹ๅž‚ไฝ“่…ซ็˜ใŒ็–‘ใ‚ใ‚Œใ€ไบŒๆฌก็š„ใช่€็ณ–่ƒฝ็•ฐๅธธใ‚„้ซ˜่ก€ๅœงใฎ็ฒพๆŸปใฎ้€”ไธญใงACTH-ใ‚ณใƒซใƒใ‚พใƒผใƒซ็ณปใฎ่‡ชๅพ‹็š„ใชๅˆ†ๆณŒ็•ฐๅธธใŒใฟใคใ‹ใ‚‹ใ‚ตใƒ–ใ‚ฏใƒชใƒ‹ใ‚ซใƒซใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจใ„ใ†็–พๆ‚ฃๆฆ‚ๅฟตใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใฏ็—…็†ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็ตŒ้ŽใŒ้•ทๅผ•ใใจ่‡จๅบŠ็š„ใซใฏๆฒป็™‚ใŒ้›ฃใ—ใๆ‚ชๆ€งใซไผผใฆใ„ใ‚‹ใจใ„ใˆใ‚‹ใ€‚" + @ja
dcterms:identifier2100273NANDO:2200350
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_033_01.pdf
rdfs:label - "Intractable pancreatitis" + "Cushing disease" @en
rdfs:label - "้›ฃๆฒปๆ€ง่†ต็‚Ž" + "ใใฃใ—ใ‚“ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200379
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100127
+ skos:altLabel + "Cushing's Disease" + @en
+ skos:altLabel + "Cushing็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018912
skos:prefLabel - "้›ฃๆฒปๆ€ง่†ต็‚Ž" + "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100274 +
http://nanbyodata.jp/ontology/NANDO_2200351 (rdf:type owl:Class @@ -89659,41 +141170,81 @@

hasNotificationNumber10
+ dcterms:description + "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ็ต„็น”ใซใฆACTHใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚’ๅˆบๆฟ€ใ—ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ‚’ๅผ•ใ่ถŠใ™ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ใพใ‚ŒใซACTHๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ็•ฐๅธธ(CRH)ใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100274NANDO:2200351
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_034_01.pdf
rdfs:label - "Short Bowel Syndrome" + "Ectopic ACTH syndrome" @en
rdfs:label - "็Ÿญ่…ธ็—‡" + "ใ„ใ—ใ‚‡ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100127
+ skos:altLabel + "็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0043472
skos:prefLabel - "็Ÿญ่…ธ็—‡" + "็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100275 +
http://nanbyodata.jp/ontology/NANDO_2200352 (rdf:type owl:Class @@ -89701,41 +141252,74 @@

hasNotificationNumber12
+ dcterms:description + "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž่…บ่…ซใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100275NANDO:2200352
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_035_01.pdf
rdfs:label - "Hirschsprung disease and related disease" + "Adrenal adenoma" @en
rdfs:label - "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ" + "ใตใใ˜ใ‚“ใ›ใ‚“ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž่…บ่…ซ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100127
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003924
skos:prefLabel - "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ" + "ๅ‰ฏ่…Ž่…บ่…ซ" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100276 +
http://nanbyodata.jp/ontology/NANDO_2200353 (rdf:type owl:Class @@ -89743,41 +141327,69 @@

hasNotificationNumber13
+ dcterms:description + "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ็—‡ใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100276NANDO:2200353
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_036_01.pdf
rdfs:label - "giant hepatic haemangiomas" + "ACTH-independent macronodular adrenal hyperplasia" @en
rdfs:label - "่‚ๅทจๅคง่ก€็ฎก่…ซ" + "ใตใใ˜ใ‚“ใฒใ—ใคใ‘ใฃใ›ใคใ›ใ„ใ‹ใ‘ใ„ใ›ใ„" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100127
skos:prefLabel - "่‚ๅทจๅคง่ก€็ฎก่…ซ" + "ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ" @ja
- - + + + + + + + + + - + + + + + + "33ใ‹ใ‚‰36ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใฃใ—ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2100277 +
http://nanbyodata.jp/ontology/NANDO_2200354 (rdf:type owl:Class @@ -89785,46 +141397,69 @@

hasNotificationNumber14
+ dcterms:description + "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฎใ†ใกใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใ€็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พคใ€ๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100277NANDO:2200354
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_037_01.pdf
rdfs:label - "persistent cloaca" - @en
rdfs:label - "็ทๆŽ’ๆณ„่…”้บๆฎ‹" + "33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค" @ja
+ rdfs:label + "Other Cushing syndrome" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01858https://www.shouman.jp/disease/details/05_18_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100127
skos:prefLabel - "็ทๆŽ’ๆณ„่…”้บๆฎ‹" + "33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100278 +
http://nanbyodata.jp/ontology/NANDO_2200355 (rdf:type owl:Class @@ -89832,46 +141467,76 @@

hasNotificationNumber83
+ dcterms:description + "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎACTHๅˆ†ๆณŒใŒใ€ไธ‹ๅž‚ไฝ“ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ใ‚‹ใ„ใฏใ•ใ‚‰ใซไธŠไฝใฎไธญๆžขใฎๅ•้กŒใซใ‚ˆใ‚Šใ€้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใ€‚ๆ…ขๆ€งใฎACTHๅˆ†ๆณŒไธๅ…จใงใฏใ€ๅ‰ฏ่…Ž็šฎ่ณชใฏ่Ž็ธฎ็Šถใจใชใ‚Šใ€ๆฉŸ่ƒฝใฎไฝŽไธ‹ใ‚’ๆ‹›ใใŸใ‚ใ€ไบŒๆฌกๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚‚ใ„ใ†ใ€‚" + @ja
dcterms:identifier2100278NANDO:2200355
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_038_01.pdf
rdfs:label - "Cloacal extrophy" + "Isolated ACTH deficiency" @en
rdfs:label - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" + "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใŸใ‚“ใฉใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01856https://www.shouman.jp/disease/details/05_19_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100253http://nanbyodata.jp/ontology/NANDO_2100128
+ skos:altLabel + "ACTHๅ˜็‹ฌๆฌ ๆ็—‡" + @ja
skos:prefLabel - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + - + - -
http://nanbyodata.jp/ontology/nando#2100279 +
http://nanbyodata.jp/ontology/NANDO_2200356 (rdf:type owl:Class @@ -89879,83 +141544,107 @@

hasNotificationNumber84
+ dcterms:description + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocortocotropin)ใฎๅˆบๆฟ€ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚ˆใ‚Š็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใ€ๅ‰ฏ่…Žไธๅ…จใ‚’่ตทใ“ใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100279NANDO:2200356
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_039_01.pdf
rdfs:label - "Chromosome abnormality" + "ACTH unresponsiveness" @en
rdfs:label - "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" + "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200407
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200777
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100128
- skos:prefLabel + skos:altLabel - "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" + "ACTHไธๅฟœ็—‡" @ja
- - - - - - - - + - + + "Adrenocorticotropic hormone unresponsiveness" + @en - - + +
http://nanbyodata.jp/ontology/nando#2100280 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100280
- rdfs:label + skos:altLabel - "Chromosome abnormality" + "Adrenocorticotropic hormone insensitivity" @en
- rdfs:label + skos:altLabel - "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100279 + skos:altLabel + "Adrenocorticotropin unresponsiveness" + @en
skos:prefLabel - "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค" + "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100281 +
http://nanbyodata.jp/ontology/NANDO_2200357 (rdf:type owl:Class @@ -89963,41 +141652,89 @@

hasNotificationNumber82
+ dcterms:description + "ๅ‰ฏ่…Ž็šฎ่ณชใฎ็™บ็”Ÿใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ‰ฏ่…ŽใฎไฝŽๅฝขๆˆใ‚’่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅนผๅฐๅ…ๆœŸใซๅคšใ„ใŒใ€ๅฐๅ…โ€•ๆ€ๆ˜ฅๆœŸโ€•้’ๅนดๆœŸใซใ‹ใ‘ใฆ็™บ็—‡ใ™ใ‚‹้…็™บๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ‰ฏ่…Žใฎ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100281NANDO:2200357
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_040_01.pdf
rdfs:label - "Skin disease" + "Congenital adrenal hypoplasia" @en
rdfs:label - "็šฎ่†š็–พๆ‚ฃ็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" @ja
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200403
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3254
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100128
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010264
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016241
skos:prefLabel - "็šฎ่†š็–พๆ‚ฃ็พค" + "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100282 +
http://nanbyodata.jp/ontology/NANDO_2200358 (rdf:type owl:Class @@ -90005,41 +141742,79 @@

hasNotificationNumber81
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏๆ…ขๆ€ง็š„ใช้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆบ€ๆœˆๆง˜้ก˜่ฒŒใ€ไธญๅฟƒๆ€ง่‚ฅๆบ€ใ€buffalo humpใ€็šฎ่†š็ทšๆกใชใฉใฎใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซ็‰นๅพด็š„ใชๅพดๅ€™ใ‚’ๆฌ ใ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100282NANDO:2200358
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_041_01.pdf
rdfs:label - "oculocutaneous albinism(congenital albinism)" + "Glucocorticoid resistance" @en
rdfs:label - "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰" + "ใใ‚‹ใ“ใ“ใ‚‹ใกใ“ใ„ใฉใฆใ„ใ“ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡" @ja
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=665
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281http://nanbyodata.jp/ontology/NANDO_2100128
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014421
skos:prefLabel - "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰" + "ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + "38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" + @ja + "Other chronic adrenal insufficiency" + @en - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100283 +
http://nanbyodata.jp/ontology/NANDO_2200359 (rdf:type owl:Class @@ -90047,46 +141822,91 @@

hasNotificationNumber85
+ dcterms:description + "ๅพŒๅคฉ็š„ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผ‰ใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏ1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€Addison็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œ่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจ ใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2100283NANDO:2200359
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_042_01.pdf
+ rdfs:label + "38ใ‹ใ‚‰41ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:label - "Congenital ichthyosis" - @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01771http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281http://nanbyodata.jp/ontology/NANDO_2100128
+ skos:altLabel + "Addison disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015129
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" + "38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + + + + + - + + + + + + + + + - + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#2100284 +
http://nanbyodata.jp/ontology/NANDO_2200360 (rdf:type owl:Class @@ -90094,88 +141914,96 @@

hasNotificationNumber85
dcterms:identifier2100284NANDO:2200360
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_042_01.pdf
rdfs:label - "epidermolysis bullosa" + "Addison's disease" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡" + "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01737http://nanbyodata.jp/ontology/NANDO_1200411
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400
- skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_042/
- - - - - + + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#2100285 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100285 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200359
- rdfs:label + skos:altLabel - "pustular psoriasis" + "Addison disease" @en
- rdfs:label + skos:altLabel - "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + "Addison็—…" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015129
skos:prefLabel - "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" @ja
- - + + + + + + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2100286 +
http://nanbyodata.jp/ontology/NANDO_2200361 (rdf:type owl:Class @@ -90183,46 +142011,74 @@

hasNotificationNumber1
+ dcterms:description + "ๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡๏ผˆprimary aldosteronism:PA๏ผ‰ใฏใ€ๅ‰ฏ่…Ž็šฎ่ณช็—…ๅค‰๏ผˆๅ‰ฏ่…Ž็šฎ่ณช่…ซ็˜ใพใŸใฏ้Žๅฝขๆˆ็—…ๅค‰๏ผ‰ใซใ‚ˆใ‚Šใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ่‡ชๅพ‹็š„้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใ˜ใŸ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้ซ˜่ก€ๅœง็—‡ไพ‹ใซใฆไฝŽใƒฌใƒ‹ใƒณๆ€ง้ซ˜ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ่ก€็—‡ใ‚’ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ™ใ‚‹ใ€‚็ขบ่ช่ฉฆ้จ“ใฎๅพŒๅ‰ฏ่…Ž็—…ๅค‰ใฎๅฑ€ๅœจ่จบๆ–ญใ‚’่กŒใ†ใ€‚PAใฎ็—…ๅž‹ๅˆ†้กžใซใฆใ€็‰‡ๅดๆ€งใ‹ไธกๅดๆ€งใซๅˆ†ใ‘ใฆ่€ƒใˆใ‚‹ใจ็†่งฃใ—ๆ˜“ใ„ใ€‚ใ™ใชใ‚ใกใ€๏ผ‘๏ผ‰็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ๅ‰ฏ่…Ž่…บ่…ซ(aldosterone producing adenoma:APA)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ(unilateral adrenal hyperplaia:UAH)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Žๅคš็™บๅพฎๅฐ็ต็ฏ€๏ผˆunilateral multiple micronodules:UMN๏ผ‰ใ€ใ€€็™Œ่…ซ(aldosterone producing carcinoma:APC)ใ€๏ผ’๏ผ‰ไธกๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ไธกๅดๅ‰ฏ่…Ž้Žๅฝขๆˆ๏ผˆidiopathic hyperaldosteronism:IHA๏ผ‰ใ€ใ€€ไธกๅดๅ‰ฏ่…Ž่…บ่…ซ๏ผˆbilateral APAs๏ผ‰ใ€ใ€€็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅๅฟœๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ (glucocorticoidใ€€suppressiveใ€€hyperaldosteronism:GSH)ใงใ‚ใ‚‹ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใงใƒŠใƒชใ‚ฆใƒ (Na)่ฒฏ็•™ใซๅ‚พใไฝ“ๆถฒๅข—ๅŠ ใซๅพ“ใฃใฆ้ซ˜่ก€ๅœงใŒ็”Ÿใ˜ใ€ๅŒๆ™‚ใซใ‚ซใƒชใ‚ฆใƒ ๏ผˆK๏ผ‰ๆŽ’ๆณ„ๅข—ๅŠ  ใซใ‚ˆใ‚‹ไฝŽK่ก€็—‡ใ€HCO๏ผ“ๅข—ๅŠ ใซใ‚ˆใ‚‹ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใ€ใใ—ใฆใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณ๏ผˆ่„ณๅ‡บ่ก€ใ€่„ณๆข—ๅกžใ€ๅฟƒ็ญ‹ๆข—ๅกžใ€ๅฟƒ่‚ฅๅคงใ€ไธๆ•ด่„ˆใ€่…Žไธๅ…จ็ญ‰๏ผ‰ใ‚’ใ‚‚ใŸใ‚‰ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰ใงใ‚ใ‚Œใฐ ใใฎๆ‘˜ๅ‡บใ‚’ใ€ไธกๅด็—…ๅค‰ใงใฏใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅ‰ค๏ผˆๆœ€่ฟ‘ใงใฏใ€ไธกๅดๅ‰ฏ่…Žใฎ้ƒจๅˆ†ๆ‘˜ๅ‡บใ‚‚่กŒใ†๏ผ‰ใ€GSHใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๅ‰คใชใฉใซใ‚ˆใ‚‹่–ฌ็‰ฉ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚ใชใŠใ€้ฃŸๅกฉๆ‘‚ๅ–้‡ใ‚„่–ฌ็‰ฉใฎๅฝฑ้Ÿฟใซใ‚ˆใ‚Šๅˆ่จบๆ™‚ใซไฝŽ๏ผซ่ก€็—‡ใ‚’็คบใ•ใชใ„็—‡ไพ‹ใ‚‚ๅคšใ„ใฎใงใ€ๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100286NANDO:2200361
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_20_043_01.pdf
rdfs:label - "Xeroderma pigmentosum" + "Aldosteronism" @en
rdfs:label - "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + "ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01428https://www.shouman.jp/disease/details/05_20_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281http://nanbyodata.jp/ontology/NANDO_2100129
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001422
skos:prefLabel - "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#2100287 +
http://nanbyodata.jp/ontology/NANDO_2200362 (rdf:type owl:Class @@ -90230,83 +142086,98 @@

hasNotificationNumber86
+ dcterms:description + "Apparentใ€€Mineralocorticoid Excess็—‡ๅ€™็พค(AME)ใฏ่‡จๅบŠ็š„ใซใฏไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็”Ÿ็†้‡ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅ—ๅฎนไฝ“(MR)ใซ็ตๅˆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญฆ็š„ใซ11ฮฒ hydroxysteroid dehydorgenase (HSD) type2้บไผๅญ๏ผˆHSD11B2๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100287NANDO:2200362
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_21_044_01.pdf
rdfs:label - "von Recklinghausen's disease" + "Apparent mineralocorticoid excess syndrome" @en
rdfs:label - "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ๏ผˆRecklinghausen๏ผ‰็—…๏ผˆ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹๏ผ‰" + "ใฟใ‹ใ‘ใฎใ“ใ†ใ—ใคใ“ใ‚‹ใกใ“ใ„ใฉใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2003
- skos:prefLabel - "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ๏ผˆRecklinghausen๏ผ‰็—…๏ผˆ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹๏ผ‰" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_21_044/
- - - - - + + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#2100288 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100288 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100130
- rdfs:label + skos:altLabel - "pachydermoperiostosis" + "AME syndrome" @en
- rdfs:label + skos:altLabel - "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + "AME็—‡ๅ€™็พค" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006657
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009025
skos:prefLabel - "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2100289 +
http://nanbyodata.jp/ontology/NANDO_2200363 (rdf:type owl:Class @@ -90314,41 +142185,86 @@

hasNotificationNumber87
+ dcterms:description + "Liddle็—‡ๅ€™็พคใฏ1993ๅนดใซLiddleใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่‹ฅๅนดๆ€ง้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ€ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใŒใ€่ก€ๆผฟใƒฌใƒ‹ใƒณๆดปๆ€งใ€่ก€ๆผฟใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฏไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้ฃŸๅกฉๆ„Ÿๅ—ๆ€ง้ซ˜่ก€ๅœง็—‡ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100289NANDO:2200363
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_22_045_01.pdf
rdfs:label - "ectodermal dysplsia" + "Liddle syndrome" @en
rdfs:label - "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" + "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00242
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_22_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281http://nanbyodata.jp/ontology/NANDO_2100131
+ skos:altLabel + "Liddle็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008323
skos:prefLabel - "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" + "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100290 +
http://nanbyodata.jp/ontology/NANDO_2200364 (rdf:type owl:Class @@ -90356,41 +142272,76 @@

hasNotificationNumber69
+ dcterms:description + "ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ไนใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ใƒฌใƒ‹ใƒณใŒไธŠๆ˜‡ใ›ใšใ€้€†ใซไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100290NANDO:2200364
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_23_046_01.pdf
rdfs:label - "Stevens-Johnson syndrome" + "Hyporeninemic hypoaldosteronism" @en
rdfs:label - "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใฆใ„ใ‚Œใซใ‚“ใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_23_046/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100281http://nanbyodata.jp/ontology/NANDO_2100132
+ skos:altLabel + "Hyporeninaemic hypoaldosteronism" + @en
skos:prefLabel - "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100291 +
http://nanbyodata.jp/ontology/NANDO_2200365 (rdf:type owl:Class @@ -90398,41 +142349,79 @@

hasNotificationNumber68
+ dcterms:description + "ๆœฌ็–พๆ‚ฃใฏ๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450c18(P450aldใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹)ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒ้šœๅฎณใ‚’ใใŸใ—๏ผŒๅกฉๅ–ชๅคฑ็—‡็Šถใ‚’่ตทใ“ใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰corticosterone methyloxidase (CMO)Iๆฌ ๆ็—‡๏ผŒCMO IIๆฌ ๆ็—‡ใจใ—ใฆ่‡จๅบŠ็š„ใซๅŒบๅˆฅใ•ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฏ๏ผŒๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏใจใ‚‚ใซP450c18้บไผๅญใงใ‚ใ‚‹CYP11B2ใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใŸใ€‚" + @ja
dcterms:identifier2100291NANDO:2200365
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_23_047_01.pdf
rdfs:label - "Bone disease" + "Aldosterone synthase deficiency" @en
rdfs:label - "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + "ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00258
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_23_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2100132
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020489
skos:prefLabel - "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + + + + + + + + + - + + + + + + "46ใŠใ‚ˆใณ47ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2100292 +
http://nanbyodata.jp/ontology/NANDO_2200366 (rdf:type owl:Class @@ -90440,41 +142429,69 @@

hasNotificationNumber70
+ dcterms:description + "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2100292NANDO:2200366
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_23_048_01.pdf
rdfs:label - "Thoracic insufficiency syndrome" - @en
rdfs:label - "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" + "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
+ rdfs:label + "other hypoaldosteronism" + @en
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_23_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100291http://nanbyodata.jp/ontology/NANDO_2100132
skos:prefLabel - "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" + "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
- - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100293 +
http://nanbyodata.jp/ontology/NANDO_2200367 (rdf:type owl:Class @@ -90482,41 +142499,67 @@

hasNotificationNumber7
dcterms:identifier2100293NANDO:2200367
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_24_049_01.pdf
rdfs:label - "Bone disease" + "Pseudohypoaldosteronism" @en
rdfs:label - "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_24_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100291http://nanbyodata.jp/ontology/NANDO_2100133
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018638
skos:prefLabel - "้ชจ็ณป็ตฑ็–พๆ‚ฃ" + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" @ja
- - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2100294 +
http://nanbyodata.jp/ontology/NANDO_2200368 (rdf:type owl:Class @@ -90524,41 +142567,74 @@

hasNotificationNumber7
+ dcterms:description + "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅ…ˆๅคฉ็š„ใช่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Naๅ†ๅธๅŽใจ๏ผซๆŽ’ๆณ„่ƒฝใฎไฝŽไธ‹ใฎใŸใ‚ๅกฉ้กžๅ–ชๅคฑ็—‡ๅ€™็พค salt-wasting syndromeใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2100294NANDO:2200368
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_24_049_01.pdf
rdfs:label - "Vascular disease" + "Pseudohypoaldosteronism type I" @en
rdfs:label - "่„ˆ็ฎก็ณป็–พๆ‚ฃ" + "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹" @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_24_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2000001http://nanbyodata.jp/ontology/NANDO_2200367
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019161
skos:prefLabel - "่„ˆ็ฎก็ณป็–พๆ‚ฃ" + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹" @ja
- - + - - + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2100295 +
http://nanbyodata.jp/ontology/NANDO_2200369 (rdf:type owl:Class @@ -90566,111 +142642,88 @@

- dcterms:identifier2100295hasNotificationNumber7
- rdfs:label + dcterms:description - "่„ˆ็ฎกๅฅ‡ๅฝข" + "่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒ้ซ˜ใ‚ฏใƒญใƒผใƒซ่ก€็—‡ๆ€งไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น ใ‚’ใใŸใ™ใŒ๏ผŒPHA Iใจ็•ฐใชใ‚Šๅกฉ้กžๅ–ชๅคฑ็—‡็Šถใฏใชใ๏ผŒๅพช็’ฐ่ก€ๆถฒ้‡ๅข—ๅคงใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Gordon็—‡ๅ€™็พคใจใ‚‚ใ„ใ†ใ€‚" @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100294
- - - - - + + + + + - - - - + "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira - + - -
http://nanbyodata.jp/ontology/nando#2100296 - (rdf:type - - owl:Class - ) - -
dcterms:identifier2100296NANDO:2200369
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_24_049_01.pdf
rdfs:label - "Hereditary hemorrhagic telangiectasia" + "Pseudohypoaldosteronism type II" @en
rdfs:label - "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" - @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100294
- skos:prefLabel + rdfs:label - "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡IIๅž‹" @ja
- - - - - + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2100297 - (rdf:type - - owl:Class - ) - -
- dcterms:identifier2100297 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_24_049/
- rdfs:label + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200367
+ skos:altLabel - "Kasabach-Merritt syndrome" + "Gordon syndrome" @en
- rdfs:label + skos:altLabel - "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ๏ผˆKasabach-Merritt๏ผ‰็—‡ๅ€™็พค " + "Gordon ็—‡ๅ€™็พค " @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100294 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019162
skos:prefLabel - "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ๏ผˆKasabach-Merritt๏ผ‰็—‡ๅ€™็พค " + "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡IIๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200001 +
http://nanbyodata.jp/ontology/NANDO_2200370 (rdf:type owl:Class @@ -90678,62 +142731,86 @@

hasNotificationNumber80hasNotificationNumber61
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚" + "ๆœฌ็—‡ใฏใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎๅพ‹้€Ÿๆฎต้šŽใซใ‚ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ˆ ใ‚Šใƒ—ใƒฌใ‚ฐใƒใƒŽใƒญใƒณใƒ˜ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็งป้€่›‹็™ฝใงใ‚ใ‚‹Steroidogenic acute regualtory proteinใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ๅ‰ฏ่…ŽๅŠใณๆ€ง่…บใซใŠใ‘ใ‚‹ใปใจใ‚“ใฉใ™ในใฆใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒๅˆๆˆใงใใชใ„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใใฎใŸใ‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ใพใŸ46ใ€ XYใฎๅ€‹ไฝ“ใงใฏ็ฒพๅทฃใงใฎ็”ทๆ€งใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ้šœๅฎณใฎใŸใ‚ๅค–ๆ€งๅ™จใŒๅฅณๆ€งๅŒ–ใ™ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ๆฅตใ‚ใฆใพใ‚Œใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅด้Ž–ๅˆ‡ๆ–ญ้…ต็ด (P450scc๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200001NANDO:2200370
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_25_050_01.pdf
rdfs:label - "B-cell precursor lymphoblastic leukaemia" + "Congenital lipoid adrenal hyperplasia" @en
rdfs:label - "ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + "ใ‚Šใฝใ„ใฉใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_001/http://nanbyodata.jp/ontology/NANDO_1200397
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_050/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100134
+ skos:altLabel + "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018479
skos:prefLabel - "ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200002 +
http://nanbyodata.jp/ontology/NANDO_2200371 (rdf:type owl:Class @@ -90741,62 +142818,79 @@

hasNotificationNumber77hasNotificationNumber57
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚" + "ๆœฌ็—‡ใฏๅ‰ฏ่…Ž๏ผŒๆ€ง่…บใซใŠใ‘ใ‚‹3ฮฒโ€ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใŸใ‚๏ผŒๅ‰ฏ่…Žไธๅ…จๅŠใณๅค–ๆ€งๅ™จ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใฎๅฝขๅผใ‚’็คบใ™ใ€‚ๆœฌ็—‡ใซใฏๅคๅ…ธๅž‹ใฎใปใ‹้žๅคๅ…ธๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200002NANDO:2200371
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_25_051_01.pdf
rdfs:label - "Mature B-cell lymphoblastic leukaemia" + "3 beta-hydroxysteroid dehydrogenase deficiency" @en
rdfs:label - "ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "3ในใƒผใŸใฒใฉใ‚ใใ—ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_002/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1699
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100134
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008727
skos:prefLabel - "ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200003 +
http://nanbyodata.jp/ontology/NANDO_2200372 (rdf:type owl:Class @@ -90804,67 +142898,91 @@

hasNotificationNumber81hasNotificationNumber56
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใงใ‚ใ‚Š๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cll๏ผˆ11ฮฒโ€ๆฐด้…ธๅŒ–้…ต็ด ๏ผ‰ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจ๏ผŒใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹็”ทๆ€งๅŒ–ใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200003NANDO:2200372
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_25_052_01.pdf
rdfs:label - "T-cell lymphoblastic leukaemia" + "11-ฮฒ-Hydroxylase deficiency" @en
rdfs:label - "T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "11ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00002http://nanbyodata.jp/ontology/NANDO_1200400
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_003/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1701
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100134
+ skos:altLabel + "11-beta-hydroxylase deficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008729
skos:prefLabel - "T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…" + "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200004 +
http://nanbyodata.jp/ontology/NANDO_2200373 (rdf:type owl:Class @@ -90872,62 +142990,86 @@

hasNotificationNumber71hasNotificationNumber58
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "ๆœฌ็–พๆ‚ฃใฏ๏ผŒๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใจใ—ใฆ๏ผŒ1966ๅนดBiglieri ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cl7ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจๆ€งใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆฌ ไนใซใ‚ˆใ‚‹ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200004NANDO:2200373
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_25_053_01.pdf
rdfs:label - "Acute myeloid leukaemia with minimal differentiation" + "17 alpha-hydroxylase deficiency" @en
rdfs:label - "ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ–" + "17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "17ใ‚ใ‚‹ใตใใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_004/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1702
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_053/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100134
+ skos:altLabel + "17-ฮฑ-Hydroxylase deficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008730
skos:prefLabel - "ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ–" + "17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200005 +
http://nanbyodata.jp/ontology/NANDO_2200374 (rdf:type owl:Class @@ -90935,62 +143077,74 @@

hasNotificationNumber79hasNotificationNumber59
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "ๆœฌ็—‡ใฏๅ‰ฏ่…ŽใซใŠใ„ใฆ17โ€ใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณ๏ผŒใ‚ใ‚‹ใ„ใฏใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณใ‹ใ‚‰ใใ‚Œใžใ‚Œ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚พใƒผใƒซ๏ผŒ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใƒณใฎๅˆๆˆใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹21ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆP450 c21๏ผ‰ใŒๆฌ ๆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ใฎๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใ‚’็คบใ—๏ผŒ่‡จๅบŠ็—‡็Šถใซๅคšๆง˜ๆ€งใŒใ‚ใ‚Š้‡็—‡ๅบฆใฎ้ †ใซๅกฉๅ–ชๅคฑๅž‹๏ผŒๅ˜็ด”็”ทๆ€งๅž‹๏ผŒๆ›ดใซ้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆ1989ๅนดใ‚ˆใ‚Šๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200005NANDO:2200374
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_25_054_01.pdf
rdfs:label - "Acute myeloid leukaemia without maturation" + "21-Hydroxylase deficiency" @en
rdfs:label - "ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "21ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_005/http://nanbyodata.jp/ontology/NANDO_1200399
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_054/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100134
skos:prefLabel - "ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200006 +
http://nanbyodata.jp/ontology/NANDO_2200375 (rdf:type owl:Class @@ -90998,62 +143152,105 @@

hasNotificationNumber78hasNotificationNumber60
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "P450 oxidoreductase(POR)ใฏ่†œ็ตๅˆๅž‹ flavoprotein ใงใ‚ใ‚Šใ€ใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ™ในใฆใฎP450้…ต็ด ็พคใซ้›ปๅญไผ้”ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹21-ๆฐด้…ธๅŒ–้…ต็ด ใจ17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ใฎ่ค‡ๅˆๆฌ ๆใ‚’ไผดใ†ใ€‚ใพใŸใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅˆๆˆใซใ‚‚P450ใŒ้–ขไธŽใ™ใ‚‹ใŸใ‚ใ€็ดฐ่ƒžๅ†…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€ๆง˜ใ€…ใช้ชจๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใ‚ˆใ‚Š้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ใชใฉใฎๅคš็™บๅฅ‡ๅฝขใ‚’ใจใ‚‚ใชใ†Antley-Bixler็—‡ๅ€™็พคใฎใชใ‹ใซใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎ็”ฃ็”Ÿ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏPORใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚" @ja
dcterms:identifier2200006NANDO:2200375
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_25_055_01.pdf
rdfs:label - "Acute myeloid leukaemia with maturation" + "P450 oxidoreductase deficiency" @en
rdfs:label - "ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใดใƒผ450ใ•ใ‚“ใ‹ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_006/http://nanbyodata.jp/ontology/NANDO_1200402
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7551
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_055/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100134
+ skos:altLabel + "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "PORD" + @en
+ skos:altLabel + "PORๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013310
skos:prefLabel - "ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "50ใ‹ใ‚‰55ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200007 +
http://nanbyodata.jp/ontology/NANDO_2200376 (rdf:type owl:Class @@ -91061,62 +143258,69 @@

hasNotificationNumber74hasNotificationNumber62
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200007NANDO:2200376
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_25_056_01.pdf
rdfs:label - "Acute promyelocytic leukaemia" - @en
rdfs:label - "ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—…" + "50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" @ja
+ rdfs:label + "other congenital adrenal hyperplasia" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_007/https://www.shouman.jp/disease/details/05_25_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100134
skos:prefLabel - "ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—…" + "50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200008 +
http://nanbyodata.jp/ontology/NANDO_2200377 (rdf:type owl:Class @@ -91124,62 +143328,74 @@

hasNotificationNumber72hasNotificationNumber37
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200008NANDO:2200377
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_26_057_01.pdf
rdfs:label - "Acute monocytic leukaemia" + "gonadotropin-dependent precocious puberty" @en
rdfs:label - "ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + "ใ”ใชใฉใจใ‚ใดใ‚“ใ„ใžใ‚“ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_008/https://www.shouman.jp/disease/details/05_26_057/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100135
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019165
skos:prefLabel - "ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200009 +
http://nanbyodata.jp/ontology/NANDO_2200378 (rdf:type owl:Class @@ -91187,67 +143403,74 @@

hasNotificationNumber75hasNotificationNumber38
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰2SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200009NANDO:2200378
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_26_058_01.pdf
rdfs:label - "Acute megakaryoblastic leukaemia" + "non-gonadotropin-dependent precocious puberty" @en
rdfs:label - "ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + "ใ”ใชใฉใจใ‚ใดใ‚“ใฒใ„ใžใ‚“ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_009/https://www.shouman.jp/disease/details/05_26_058/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100135
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018872http://purl.obolibrary.org/obo/MONDO_0015791
skos:prefLabel - "ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200010 +
http://nanbyodata.jp/ontology/NANDO_2200379 (rdf:type owl:Class @@ -91255,62 +143478,74 @@

hasNotificationNumber73hasNotificationNumber3
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "็”ทๆ€งใงใฏๅฅณๆ€งๅŒ–ไนณๆˆฟใ‚’ใใŸใ—ใ€ๅฅณๆ€งใงใฏๅทจๅคงไนณๆˆฟใ€ไธๆญฃๆ€งๅ™จๅ‡บ่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€่ก€ไธญใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณใฎ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200010NANDO:2200379
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_27_059_01.pdf
rdfs:label - "Acute erythremia" + "hyperestrogenism" @en
rdfs:label - "ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—…" + "ใˆใ™ใจใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_010/https://www.shouman.jp/disease/details/05_27_059/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100136
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001946
skos:prefLabel - "ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—…" + "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200011 +
http://nanbyodata.jp/ontology/NANDO_2200380 (rdf:type owl:Class @@ -91318,67 +143553,74 @@

hasNotificationNumber70hasNotificationNumber2
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰" + "ๅฅณๆ€งใซใŠใ„ใฆใ€็”ทๆ€งใƒ›ใƒซใƒขใƒณใฎ้Žๅ‰ฐใซใ‚ˆใ‚Š็”ทๆ€งๅŒ–ๅ…†ๅ€™ใ‚’็คบใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ก€ไธญใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใพใŸใ€็‰นใซใ‚ขใƒญใƒžใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไบŒๆฌกๆ€งๅพดใฎๆฌ ๅฆ‚ใจ้€ฒ่กŒๆ€งใฎ็”ทๆ€งๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200011NANDO:2200380
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_28_060_01.pdf
rdfs:label - "Acute megakaryoblastic leukaemia" + "hyperandrogenism" @en
rdfs:label - "ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—…" + "ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_011/https://www.shouman.jp/disease/details/05_28_060/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100137
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018872http://purl.obolibrary.org/obo/MONDO_0001324
skos:prefLabel - "ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—…" + "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200012 +
http://nanbyodata.jp/ontology/NANDO_2200381 (rdf:type owl:Class @@ -91386,69 +143628,81 @@

hasNotificationNumber82hasNotificationNumber71
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200012NANDO:2200381
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_29_061_01.pdf
rdfs:label - "NK cell leukaemia" + "Kallmann syndrome" @en
rdfs:label - "NK็ดฐ่ƒž็™ฝ่ก€็—…" + "ใ‹ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_012/https://www.shouman.jp/disease/details/05_29_061/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100138
skos:altLabel - "ใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ็ดฐ่ƒž็™ฝ่ก€็—…" + "Kallmann็—‡ๅ€™็พค" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018800
skos:prefLabel - "NK็ดฐ่ƒž็™ฝ่ก€็—…" + "ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - + "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#2200013 +
http://nanbyodata.jp/ontology/NANDO_2200382 (rdf:type owl:Class @@ -91456,84 +143710,86 @@

hasNotificationNumber83hasNotificationNumber72
dcterms:description - "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆCML๏ผ‰ใฏๆ…ขๆ€งๆœŸใ‹ใ‚‰็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใธ้€ฒ่กŒใ™ใ‚‹้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ ่ก€ๅนน็ดฐ่ƒžใซPhๆŸ“่‰ฒไฝ“ใ€ใ™ใชใ‚ใกBCR-ABLใ‚ญใƒกใƒฉ้บไผๅญใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใจใ€ABLใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผใฎๆ’ๅธธ็š„ใชๆดปๆ€งๅŒ–ใ‹ใ‚‰็ดฐ่ƒžๅข—ๆฎ–ใฎไบข้€ฒใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใฎ้˜ปๅฎณใ€้ชจ้ซ„ใ‚นใƒˆใƒญใƒผใƒžใธใฎๆŽฅ็€็•ฐๅธธใ€ใ‚ฒใƒŽใƒ ใฎไธๅฎ‰ๅฎšๆ€งใŒ็”Ÿใ˜ใ€ๆ…ขๆ€งๆœŸใซใฏ้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ใ€ๅข—ๆฎ–ใŒๅผทใ่ช˜ๅฐŽใ•ใ‚Œใ‚‹ใ€‚็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใซใฏๆœชๅˆ†ๅŒ–ใช่Šฝ็ƒใฎๅข—ๆฎ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200013NANDO:2200382
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_29_062_01.pdf
rdfs:label - "Chronic myeloid leukaemia" + "Hypogonadotropic hypogonadism" @en
rdfs:label - "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + "ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00004http://nanbyodata.jp/ontology/NANDO_1200388
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_013/https://www.shouman.jp/disease/details/05_29_062/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100138
skos:altLabel - "CML" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001014
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011996http://purl.obolibrary.org/obo/MONDO_0018555
skos:prefLabel - "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…" + "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + "ใ›ใ„ใใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“" + @ja-Hira - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200014 +
http://nanbyodata.jp/ontology/NANDO_2200383 (rdf:type owl:Class @@ -91541,67 +143797,74 @@

hasNotificationNumber84hasNotificationNumber20
dcterms:description - "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (CMML)ใฏๅ˜็ƒๅข—ๅŠ ใ‚’็‰นๅพดใจใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง่…ซ็˜(MPN)ใจ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค (MDS)ใฎๆ€ง่ณชใ‚’ไฝตใ›ๆŒใคใ‚ฏใƒญใƒผใƒณๆ€ง้ชจ้ซ„่…ซ็˜ใงใ‚ใ‚‹1)ใ€‚ๅฐๅ…ใซใŠใ„ใฆใฏๅŒๆง˜ใฎ็—…ๆ…‹ใจใ—ใฆRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚’ๆœ‰ใ—ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใŒใ‚ใ‚‹ใŒใ€ๅŽณๅฏ†ใช้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200014NANDO:2200383
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_30_063_01.pdf
rdfs:label - "Chronic myelomonocytic leukaemia" + "Testicular dysgenesis" @en
rdfs:label - "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02411 + rdfs:label + "็ฒพๅทฃๅฝขๆˆไธๅ…จ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_014/https://www.shouman.jp/disease/details/05_30_063/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100139
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005437
skos:prefLabel - "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + "็ฒพๅทฃๅฝขๆˆไธๅ…จ" @ja
- - + - - + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200015 +
http://nanbyodata.jp/ontology/NANDO_2200384 (rdf:type owl:Class @@ -91609,62 +143872,74 @@

hasNotificationNumber76hasNotificationNumber21
dcterms:description - "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใฏๅคš่ƒฝๆ€ง้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Šๅ˜็ƒใจ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใŒ็•ฐๅธธๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ€ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹ใ€‚้ก†็ฒ’็ƒๅ˜็ƒใ‚ณใƒญใƒ‹ใƒผๅˆบๆฟ€ๅ› ๅญ (granulocyte-macrophage colony stimulating factor: GM-CSF)ๅ—ๅฎนไฝ“ฮฒ้Ž–ไธ‹ๆตใฎRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใŒ็ด„90%ใฎ็—‡ไพ‹ใงๆคœๅ‡บใ•ใ‚Œใ€JMMLใฎ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใฏGM-CSFใซๅฏพใ™ใ‚‹้ซ˜ๆ„Ÿๅ—ๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใ‚ฏใƒญใƒผใƒณใซ็”ฑๆฅใ™ใ‚‹็ดฐ่ƒžใŒๆœซๆขข่ก€ใ‚„้ชจ้ซ„ใฎใฟใชใ‚‰ใšๅ…จ่บซใฎ่‡“ๅ™จใงๅข—ๆฎ–ใ—ใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ใใŸใ™ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏๅตๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200015NANDO:2200384
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_30_064_01.pdf
rdfs:label - "Juvenile myelomonocytic leukaemia" + "Ovarian dysgenesis" @en
rdfs:label - "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + "ใ‚‰ใ‚“ใใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“" + @ja-Hira
+ rdfs:label + "ๅตๅทฃๅฝขๆˆไธๅ…จ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_015/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00599
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_30_064/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100139
skos:prefLabel - "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…" + "ๅตๅทฃๅฝขๆˆไธๅ…จ" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200016 +
http://nanbyodata.jp/ontology/NANDO_2200385 (rdf:type owl:Class @@ -91672,62 +143947,69 @@

hasNotificationNumber85hasNotificationNumber22
dcterms:description - "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใ‚„ๅตๅทฃ่‡ชไฝ“ใŒๅŽŸๅ› ใงๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใƒปไธ‹ๅž‚ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซ็ฒพๅทฃใ‚„ๅตๅทฃใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็ฒพๅทฃใ‚„ๅตๅทฃใฎ็™บ็”Ÿใ€ๅˆ†ๅŒ–ใฎ้Ž็จ‹ใซๆ˜Žใ‚‰ใ‹ใช้šœๅฎณใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใฏ้™คๅค–ใ™ใ‚‹๏ผˆ็ฒพๅทฃๅฝขๆˆไธๅ…จใ€ๅตๅทฃๅฝขๆˆไธๅ…จใฎใƒšใƒผใ‚ธๅ‚็…ง๏ผ‰ใ€‚" @ja
dcterms:identifier2200016NANDO:2200385
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_30_065_01.pdf
rdfs:label - "1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—…" + "63ใŠใ‚ˆใณ64ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
rdfs:label - "Other leukaemia" + "Hypergonadotropic hypogonadism of other etiologies" @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_016/https://www.shouman.jp/disease/details/05_30_065/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100002http://nanbyodata.jp/ontology/NANDO_2100139
skos:prefLabel - "1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—…" + "63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + "Klinefelter็—‡ๅ€™็พค" + @ja + +
http://nanbyodata.jp/ontology/nando#2200017 +
http://nanbyodata.jp/ontology/NANDO_2200386 (rdf:type owl:Class @@ -91735,86 +144017,142 @@

hasNotificationNumber85hasNotificationNumber22
dcterms:identifier2200017NANDO:2200386
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_30_065_01.pdf
rdfs:label - "Acute undifferentiated leukemia" + "Klinefelter syndrome" @en
rdfs:label - "ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…" + "Klinefelter็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ‚ฏใƒฉใ‚คใƒณใƒ•ใ‚งใƒซใ‚ฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_016/https://www.shouman.jp/disease/details/05_30_065/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200016http://nanbyodata.jp/ontology/NANDO_2200385
- skos:altLabel + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006823
+ skos:prefLabel - "AUL" - @en
+ + + - + + + + + + "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆovotesticular DSDใ€ไปฅๅ‰ใฎๅ‘ผ็งฐใงใฏ็œŸๆ€งๅŠ้™ฐ้™ฝ๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ๅ†…ใซๅตๅทฃ็ต„็น”ใจ็ฒพๅทฃ็ต„็น”ใŒๅŒๅดใ‚ใ‚‹ใ„ใฏๅฏพๅดใซๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็•ฐใชใ‚‹ๆ€ง่…บใฎ็ต„ใฟๅˆใ‚ใ›ใฏๅคšๆง˜ใงใ€ไธ€ๅดใŒ็ฒพๅทฃใงๅฏพๅดใŒๅตๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ20๏ผ…ใ€ไธ€ๅดใŒ็ฒพๅทฃใพใŸใฏๅตๅทฃใงๅฏพๅดใŒๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„50๏ผ…ใ€ไธกๅดใจใ‚‚ใซๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„30๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)ใ€‚ๆ ธๅž‹ใฏใ€ไบบ็จฎใซใ‚ˆใฃใฆๅทฎใ‚’่ชใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹125ไพ‹ใงใฎๆคœ่จŽใงใฏใ€46,XXใŒ61.6๏ผ…ใ€46,XYใŒ12.8๏ผ…ใ€46,XX/46,XYใŒ14.4๏ผ…ใงใ‚ใฃใŸใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚" + @ja - + + + + + + + + + - - + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/NANDO_2200387 + (rdf:type + + owl:Class + ) + +
- skos:altLabelhasNotificationNumber53
+ dcterms:description - "Acute leukemia of ambiguous lineage" - @en
- skos:altLabel + dcterms:identifierNANDO:2200387
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_066_01.pdf
+ rdfs:label - "Acute unclassified leukemia" + "Ovotesticular dsd" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019460 + rdfs:label + "ใ‚‰ใ‚“ใ›ใ„ใใ†ใ›ใ„ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_066/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100140
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020321http://purl.obolibrary.org/obo/MONDO_0016281
skos:prefLabel - "ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…" + "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" @ja
- - + - - + + + + + + - + - + + + + + + "ใ“ใ‚“ใ”ใ†ใ›ใ„ใ›ใ„ใ›ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira - + - - - - - + - + - +
http://nanbyodata.jp/ontology/nando#2200018 +
http://nanbyodata.jp/ontology/NANDO_2200388 (rdf:type owl:Class @@ -91822,72 +144160,79 @@

hasNotificationNumber85hasNotificationNumber51
+ dcterms:description + "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡๏ผˆmixed gonadal dysgenesis๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ใซใŠใ„ใฆ็ฒพๅทฃๆˆๅˆ†ใจ็ดข็Šถๆ€ง็ทšใŒๅ…ฑๅญ˜ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ใใ‚Œใซ้–ข้€ฃใ™ใ‚‹ๅ†…ๅค–ๆ€งๅ™จใฎๅˆ†ๅŒ–็•ฐๅธธใŒใฟใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹1)ใ€‚ไปฃ่กจ็š„ใชๆ ธๅž‹ใฏใ€45,X/46,XYใฎใƒขใ‚ถใ‚คใ‚ฏใงใ‚ใ‚‹ใŒใ€45,X/47,XYYใ‚„45,X/46,XY/47,XYYใฎๆ ธๅž‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2200018NANDO:2200388
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_01_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_31_067_01.pdf
+ rdfs:label + "Mixed gonadal dysgenesis" + @en
rdfs:label - "Mixed phenotype acute leukemia" - @en
rdfs:label - "ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…" + "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_01_016/https://www.shouman.jp/disease/details/05_31_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200016
- skos:altLabel - "MPAL" - @enhttp://nanbyodata.jp/ontology/NANDO_2100140
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019460http://purl.obolibrary.org/obo/MONDO_0001969
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020743http://purl.obolibrary.org/obo/MONDO_0015779
skos:prefLabel - "ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…" + "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200019 +
http://nanbyodata.jp/ontology/NANDO_2200389 (rdf:type owl:Class @@ -91895,77 +144240,69 @@

hasNotificationNumber44hasNotificationNumber49
dcterms:description - "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Š็„กๅŠน้€ ่ก€ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…(AML)ใซ้€ฒ่กŒใ™ใ‚‹ใƒชใ‚นใ‚ฏใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆœซๆขข่ก€ใŠใ‚ˆใณ้ชจ้ซ„ใซใŠใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใซใ‚ˆใฃใฆ็—…ๅƒใŒ็•ฐใชใ‚Šใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„MDSใฏ็„กๅŠน้€ ่ก€ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใŒไธปไฝ“ใจใชใฃใฆๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ (AA)ใจใฎ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹ใฎใซๅฏพใ—ใฆใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ†MDSใฏAMLใซ่ฟ‘ใ„็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ๅฐๅ…ใฎMDSใฏใพใ‚Œใงใ€ๆˆไบบใฎใ‚‚ใฎใจใฏ็•ฐใชใ‚‹็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจ 5q-็—‡ๅ€™็พคใฏๅฐๅ…ใงใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ไธ€ๆ–นใงFanconi่ฒง่ก€ใชใฉใฎ้บไผๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค (inherited bone marrow failure syndrome: IBMFS)ใ‚„Down็—‡ๅ€™็พคใ€€(Down syndrome; DS)ใชใฉๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ ใพใŸใ€ๆ‚ชๆ€ง่…ซ็˜ใซๅฏพใ™ใ‚‹ๅŒ–ๅญฆ็™‚ๆณ•ใƒปๆ”พๅฐ„็ทšๆฒป็™‚ใ€AAใซๅฏพใ™ใ‚‹ๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใชใฉใซ็ถš็™บใ—ใ†ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็‰นๅพดใ‚’้‘‘ใฟใฆใ€ใƒจใƒผใƒญใƒƒใƒ‘ๅฐๅ…MDS็ ”็ฉถใ‚ฐใƒซใƒผใƒ— (EWOG)ใฏ2003ๅนดใซๅฐๅ…็‹ฌ่‡ชใฎMDS/MPD (้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ)็—…ๅž‹ๅˆ†้กžใ‚’ๆๆกˆใ—ใŸ1)ใ€‚WHOๅˆ†้กž็ฌฌ๏ผ”็‰ˆใซใŠใ„ใฆใ‚‚ใ“ใฎๅˆ†้กžใŒๆŽก็”จใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚่กจ ๅฐๅ…MDS/MPD็—…ๅž‹ๅˆ†้กž1)*่จป๏ผš AMLใจMDSใ‚’ใ‚ใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ใจใ—ใฆWHOๅˆ†้กžใฏ20%ใ‚’็”จใ„ใฆใ„ใ‚‹ใŒใ€ใ“ใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ๅ€คใฎๆ„็พฉใŒๅฐๅ…ใงใฏไธๆ˜Žใงใ‚ใ‚‹ใจใฎ็†็”ฑใ‹ใ‚‰EWOGใฏใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’30%ใจใ—ใฆFABๅˆ†้กžใง็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸRAEB-Tใ‚’MDSใซๆฎ‹ใ—ใฆใ„ใ‚‹ใ€‚ๆœฌๆฆ‚่ฆใฏAMLใฎ่จบๆ–ญๆฆ‚่ฆใจใฎๆ•ดๅˆๆ€งใ‚’้‘‘ใฟใฆใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’20%ใจใ—ใŸใ€‚" + "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200019NANDO:2200389
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_02_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_31_068_01.pdf
rdfs:label - "Myelodysplastic syndrome" + "5 alpha-reductase deficiency" @en
rdfs:label - "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + "5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01481 + rdfs:label + "5ใ‚ใ‚‹ใตใใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_02_017/https://www.shouman.jp/disease/details/05_31_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100003
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018881
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044873http://nanbyodata.jp/ontology/NANDO_2100140
skos:prefLabel - "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค" + "5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200020 +
http://nanbyodata.jp/ontology/NANDO_2200390 (rdf:type owl:Class @@ -91973,62 +144310,79 @@

hasNotificationNumber86hasNotificationNumber48
dcterms:description - "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚" + "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200020NANDO:2200390
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_31_069_01.pdf
rdfs:label - "Mature B-cell lymphoma" + "17 beta-hydroxysteroid dehydrogenase deficiency" @en
rdfs:label - "ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "17ในใƒผใŸใฒใฉใ‚ใใ—ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_018/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2903
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_069/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100004http://nanbyodata.jp/ontology/NANDO_2100140
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009916
skos:prefLabel - "ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200021 +
http://nanbyodata.jp/ontology/NANDO_2200391 (rdf:type owl:Class @@ -92036,72 +144390,84 @@

hasNotificationNumber90hasNotificationNumber47
dcterms:description - "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚" + "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎไฝœ็”จ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200021NANDO:2200391
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_31_070_01.pdf
rdfs:label - "Anaplastic large cell lymphoma" + "Androgen insensitivity syndrome" @en
rdfs:label - "ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01601http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3229
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_019/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02177
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_070/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100004http://nanbyodata.jp/ontology/NANDO_2100140
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020325http://purl.obolibrary.org/obo/MONDO_0019154
skos:prefLabel - "ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200022 +
http://nanbyodata.jp/ontology/NANDO_2200392 (rdf:type owl:Class @@ -92109,62 +144475,69 @@

hasNotificationNumber88hasNotificationNumber50
dcterms:description - "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚" + "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XYใฎใ‚‚ใฎใฎไธญใงใ€5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใ€17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡๏ผˆใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡๏ผ‰ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200022NANDO:2200392
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_31_071_01.pdf
rdfs:label - "Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" + "68ใ‹ใ‚‰70ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,ใˆใฃใใ™ใ‚ใ„ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" @ja
rdfs:label - "Precursor B lymphoblastic lymphoma" + "Other disorders of sex development of 46,XY" @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_020/https://www.shouman.jp/disease/details/05_31_071/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100004http://nanbyodata.jp/ontology/NANDO_2100140
skos:prefLabel - "Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" + "68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" @ja
- - + - - + + - + - + + "46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + @ja + "46,ใˆใฃใใ™ใˆใฃใใ™ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“" + @ja-Hira + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200023 +
http://nanbyodata.jp/ontology/NANDO_2200393 (rdf:type owl:Class @@ -92172,67 +144545,86 @@

hasNotificationNumber87hasNotificationNumber52
dcterms:description - "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚" + "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XXใฎใ‚‚ใฎใ€‚" @ja
dcterms:identifier2200023NANDO:2200393
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_31_072_01.pdf
rdfs:label - "Precursor T lymphoblastic lymphoma" - @en
rdfs:label - "Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" - @ja
+ rdfs:label + "disorders of sex development of 46,XY" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_021/https://www.shouman.jp/disease/details/05_31_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100004http://nanbyodata.jp/ontology/NANDO_2100140
+ skos:altLabel + "46,XY DSD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044917http://purl.obolibrary.org/obo/MONDO_0020040
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020042
skos:prefLabel - "Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ" + "46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" @ja
- - + - - + + - + - + + "VIP็”ฃ็”Ÿ่…ซ็˜" + @ja + "Vipoma" + @en - - + + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200024 +
http://nanbyodata.jp/ontology/NANDO_2200394 (rdf:type owl:Class @@ -92240,86 +144632,74 @@

hasNotificationNumber89hasNotificationNumber42
dcterms:description - "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆHodgkin lymphoma, HL๏ผ‰ใฏใƒชใƒณใƒ‘็ฏ€ใพใŸใฏไป–ใฎใƒชใƒณใƒ‘ๆ€ง็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใƒชใƒณใƒ‘ๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€็ต„็น”ๅญฆ็š„ใซReed-Sternberg็ดฐ่ƒžใพใŸใฏใใฎๅค‰็จฎใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใ€็—…็†ๅƒใฎ็›ธ้•ใ‹ใ‚‰็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹HL (nodular lymphocyte predominance Hodgkin lymphoma: NLPHL)ใจๅคๅ…ธ็š„classical (C) HL [ๆททๅˆๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆmixed cellularity: MCCHL๏ผ‰,็ต็ฏ€ๆ€ง็กฌๅŒ–ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆnodular sclerosis: NSCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒ่ฑŠๅฏŒๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte-rich: LRCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒๆธ›ๅฐ‘ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte depletion: LDCHL๏ผ‰]ใซๅคงๅˆฅใ•ใ‚Œใ‚‹1)ใ€‚" + "่…ซ็˜ใ‹ใ‚‰ใฎVIPๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" @ja
dcterms:identifier2200024NANDO:2200394
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_32_073_01.pdf
rdfs:label - "Hodgkin lymphoma" - @en
rdfs:label - "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00007 + rdfs:label + "ใถใ„ใ‚ใ„ใดใƒผใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_022/https://www.shouman.jp/disease/details/05_32_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100004
- skos:altLabel - "HL" - @en
- skos:altLabel - "Hodgkinใƒชใƒณใƒ‘่…ซ" - @jahttp://nanbyodata.jp/ontology/NANDO_2100141
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004952http://purl.obolibrary.org/obo/MONDO_0019960
skos:prefLabel - "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ" + "VIP็”ฃ็”Ÿ่…ซ็˜" @ja
- - + - - + + - + - + + "Gastrinoma" + @en + "ใŒใ™ใจใ‚Šใฎใƒผใพ" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200025 +
http://nanbyodata.jp/ontology/NANDO_2200395 (rdf:type owl:Class @@ -92327,62 +144707,74 @@

hasNotificationNumber91hasNotificationNumber40
dcterms:description - "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚" + "่†ตใ€ๅไบŒๆŒ‡่…ธใซ็™บ็”Ÿใ™ใ‚‹ใ‚ฌใ‚นใƒˆใƒชใƒณ็”ฃ็”Ÿ่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฌใ‚นใƒˆใƒชใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" @ja
dcterms:identifier2200025NANDO:2200395
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_32_074_01.pdf
rdfs:label - "18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ" - @ja
rdfs:label - "Other malignant lymphomas" - @en
+ rdfs:label + "ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/https://www.shouman.jp/disease/details/05_32_074/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100004http://nanbyodata.jp/ontology/NANDO_2100141
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003523
skos:prefLabel - "18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ" + "ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200026 +
http://nanbyodata.jp/ontology/NANDO_2200396 (rdf:type owl:Class @@ -92390,55 +144782,79 @@

hasNotificationNumber91hasNotificationNumber41
+ dcterms:description + "่…ซ็˜ใซใ‚ˆใ‚‹ๆดปๆ€งใ‚ขใƒŸใƒณ(ใ‚ปใƒญใƒˆใƒ‹ใƒณใ€ใƒ’ใ‚นใ‚ฟใƒŸใƒณ)ใ€ใ‚ฟใ‚ญใ‚ญใƒ‹ใƒณใ€ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณใชใฉ ใฎๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2200026NANDO:2200396
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_32_075_01.pdf
rdfs:label - "Pediatric follicular lymphoma" + "Carcinoid syndrome" @en
rdfs:label - "ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ" + "ใ‹ใ‚‹ใกใฎใ„ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/https://www.shouman.jp/disease/details/05_32_075/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200025http://nanbyodata.jp/ontology/NANDO_2100141
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005369
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006689
skos:prefLabel - "ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ" + "ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200027 +
http://nanbyodata.jp/ontology/NANDO_2200397 (rdf:type owl:Class @@ -92446,60 +144862,74 @@

hasNotificationNumber91hasNotificationNumber15
+ dcterms:description + "ไธปใซ่†ตใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฐใƒซใ‚ซใ‚ดใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" + @ja
dcterms:identifier2200027NANDO:2200397
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_33_076_01.pdf
rdfs:label - "Extranodal NK/T-cell lymphoma, nasal type" + "Glucagonoma" @en
rdfs:label - "็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹" + "ใใ‚‹ใ‹ใ”ใฎใƒผใพ" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/https://www.shouman.jp/disease/details/05_33_076/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200025http://nanbyodata.jp/ontology/NANDO_2100142
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019472http://purl.obolibrary.org/obo/MONDO_0019959
skos:prefLabel - "็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹" + "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" @ja
- - + - - + + + + + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200028 +
http://nanbyodata.jp/ontology/NANDO_2200398 (rdf:type owl:Class @@ -92507,60 +144937,74 @@

hasNotificationNumber91hasNotificationNumber17
+ dcterms:description + "่†ตฮฒ็ดฐ่ƒž็”ฑๆฅใฎใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒๆ€ง่…บ่…ซใ€‚" + @ja
dcterms:identifier2200028NANDO:2200398
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_34_077_01.pdf
rdfs:label - "Peripheral T-cell lymphoma, not otherwise specified" + "Insulinoma" @en
rdfs:label - "ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹" + "ใ„ใ‚“ใ™ใ‚Šใฎใƒผใพ" + @ja-Hira
+ rdfs:label + "ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/https://www.shouman.jp/disease/details/05_34_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200025http://nanbyodata.jp/ontology/NANDO_2100143
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004964http://purl.obolibrary.org/obo/MONDO_0024677
skos:prefLabel - "ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹" + "ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200029 +
http://nanbyodata.jp/ontology/NANDO_2200399 (rdf:type owl:Class @@ -92568,60 +145012,86 @@

hasNotificationNumber91hasNotificationNumber18
+ dcterms:description + "ๅ…ˆๅคฉๆ€งใซ่†ตฮฒ็ดฐ่ƒžใฎไธ€้ƒจใพใŸใฏๅ…จ้ƒจใ‹ใ‚‰ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ใใŸใ—ใ€้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200029NANDO:2200399
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_34_078_01.pdf
rdfs:label - "Angioimmunoblastic T-cell lymphoma" + "Congenital hyperinsulinemia" @en
rdfs:label - "่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/https://www.shouman.jp/disease/details/05_34_078/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200025http://nanbyodata.jp/ontology/NANDO_2100143
+ skos:altLabel + "Congenital hyperinsulinaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004977http://purl.obolibrary.org/obo/MONDO_0005803
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017182
skos:prefLabel - "่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡" @ja
- - + - - + + + + + + - + - + + "77ใŠใ‚ˆใณ78ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ›ใ„ใฆใ„ใ‘ใฃใจใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200030 +
http://nanbyodata.jp/ontology/NANDO_2200400 (rdf:type owl:Class @@ -92629,55 +145099,76 @@

hasNotificationNumber91hasNotificationNumber19
+ dcterms:description + "ใ‚คใƒณใ‚นใƒชใƒณใฎ้Žๅ‰ฐใซใ‚ˆใฃใฆ้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใฎใ†ใกใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒžใ€ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใ€‚" + @ja
dcterms:identifier2200030NANDO:2200400
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_03_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_34_079_01.pdf
rdfs:label - "Sucutaneous panniculitis-like T-cell lymphoma" - @en
rdfs:label - "็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" @ja
+ rdfs:label + "Other hyperinsulinemic hypoglycemia" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_03_023/https://www.shouman.jp/disease/details/05_34_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200025http://nanbyodata.jp/ontology/NANDO_2100143
+ skos:altLabel + "Other hyperinsulinaemic hypoglycaemia" + @en
skos:prefLabel - "็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ" + "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - - - - - - - - - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200031 +
http://nanbyodata.jp/ontology/NANDO_2200401 (rdf:type owl:Class @@ -92685,101 +145176,79 @@

hasNotificationNumber46hasNotificationNumber76
dcterms:description - "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚" + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…ใฏใ€้บไผๆ€งใซใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ใใŸใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‚ซๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ไฝๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD 1ฮฑไฝๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ(CYP27B1)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡Iๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR I๏ผ‰ใจ๏ผŒใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ(VDR)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡IIๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type II๏ผšVDDR II๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200031NANDO:2200401
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_35_080_01.pdf
rdfs:label - "Langerhans cell histiocytosis" + "Vitamin d-dependent rickets" @en
rdfs:label - "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡" + "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01512https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01143
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_024/https://www.shouman.jp/disease/details/05_35_080/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100005
- skos:altLabel - "LCH" - @en
- skos:altLabel - "Langerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017025
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017029http://nanbyodata.jp/ontology/NANDO_2100144
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018310
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019450http://purl.obolibrary.org/obo/MONDO_0024299
skos:prefLabel - "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200032 +
http://nanbyodata.jp/ontology/NANDO_2200402 (rdf:type owl:Class @@ -92787,74 +145256,79 @@

hasNotificationNumber45hasNotificationNumber77
dcterms:description - "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚" + "ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใฎ้€šๅธธ้‡ใงๆฒป็™’ใงใใชใ„้ชจ่ปŸๅŒ–็—‡ใฎ็ท็งฐใจใ—ใฆใ€ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ใจใ„ใ†็—…ๅใŒไฝฟ็”จใ•ใ‚Œใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€็นŠ็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23 (fibroblast growth factor 23: FGF23) ้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ†้บไผๆ€งไฝŽใƒชใƒณ่ก€ๆ€งใใ‚‹็—…ใ€่…ซ็˜ๆ€ง้ชจ่ปŸๅŒ–็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚้€šๅธธใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹๏ผˆใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใฎ้ …ๅ‚็…ง๏ผ‰ใ€‚็”ŸๅพŒใ€ๆ•ฐๅนดไปฅๅ†…ใซใใ‚‹็—…ใฎๅฝขใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„๏ผˆใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผ‰ใ€‚" @ja
dcterms:identifier2200032NANDO:2200402
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_36_081_01.pdf
rdfs:label - "Hemophagocytic lymphohistiocytosis" + "Vitamin D-resistant osteomalacia" @en
rdfs:label - "่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡" + "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_025/http://nanbyodata.jp/ontology/NANDO_1200780
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100005 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_36_081/
- skos:altLabel - "HLH" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100145
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015540http://purl.obolibrary.org/obo/MONDO_0024300
skos:prefLabel - "่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡" + "ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" @ja
- - + - - + + - + - + + "Primary hypophosphatemic rickets" + @en + "ใ’ใ‚“ใฑใคใ›ใ„ใฆใ„ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200033 +
http://nanbyodata.jp/ontology/NANDO_2200403 (rdf:type owl:Class @@ -92862,62 +145336,81 @@

hasNotificationNumber47hasNotificationNumber16
dcterms:description - "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚" + "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใฏใ€่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใƒชใƒณๅ†ๅธๅŽใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅฐฟใƒชใƒณๆŽ’ๆณ„ใŒๅข—ๅŠ ใ—ใ€่ก€ๆธ…ใƒชใƒณๆฟƒๅบฆใŒไฝŽไธ‹ใ™ใ‚‹ไบ‹ใซใ‚ˆใ‚Šใใ‚‹็—…ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจ้ž้บไผๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅ‰่€…ใฏใ•ใ‚‰ใซใ€้บไผๅฝขๅผใŠใ‚ˆใณ็—‡็Šถใซใ‚ˆใ‚Šๆ•ฐ็จฎ้กžใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใ€็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23๏ผˆFGF23: Fibroblast growth factor 23๏ผ‰ใŒใƒชใƒณๅˆฉๅฐฟใ‚’ๆƒน่ตทใ™ใ‚‹ไธปๅ› ๅญใจใ—ใฆๅŒๅฎšใ•ใ‚Œใ€FGF23ใฎไธŠๆ˜‡ใซๅฏ„ใ‚‹ใใ‚‹็—…ใ‚’FGF23้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใจใ‚‚ๅ‘ผใถใ€‚้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ‚ใชใ„ไฝŽใƒชใƒณ่ก€็—‡ใฏๅพŒๅคฉๆ€งใซใ‚‚ใŠใ“ใ‚Šใ€่…ซ็˜ใซไผดใ†ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ๅข—ๅŠ ใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹ๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใชใฉใงใฟใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200033NANDO:2200403
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_37_082_01.pdf
rdfs:label - "24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡" - @ja
rdfs:label - "Other histiocytosis" - @en
+ rdfs:label + "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/https://www.shouman.jp/disease/details/05_37_082/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100005http://nanbyodata.jp/ontology/NANDO_2100146
+ skos:altLabel + "Primary hypophosphataemic rickets" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024300
skos:prefLabel - "24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡" + "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200034 +
http://nanbyodata.jp/ontology/NANDO_2200404 (rdf:type owl:Class @@ -92925,65 +145418,86 @@

hasNotificationNumber47hasNotificationNumber39
+ dcterms:description + "ๆ „้คŠ็Šถๆ…‹ใซ้–ขใ‚ใ‚‰ใšใ€่„‚่‚ช็ต„็น”ใŒๅ…จ่บซๆ€งใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆธ›ๅฐ‘ใƒปๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใ€‚ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€่„‚่ณช็•ฐๅธธใ‚’ใใŸใ—ใฆ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Ž็ธฎใฎๅˆ†ๅธƒใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใซใ‚ˆใ‚Šไธ‹่จ˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ใ€€ๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(1) ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆBerardinelli-Seip ็—‡ๅ€™็พค๏ผ‰(2) ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆLawrence ็—‡ๅ€™็พค๏ผ‰ใ€€๏ผ’ใ€€้ƒจๅˆ†็š„่„‚่‚ช่Ž็ธฎ็—‡(3) ๅ…ˆๅคฉๆ€ง๏ผˆๅฎถๆ—ๆ€ง๏ผ‰้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(4) ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + @ja
dcterms:identifier2200034NANDO:2200404
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_38_083_01.pdf
rdfs:label - "Follicular dendritic cell sarcoma" + "Lipodystrophy" @en
rdfs:label - "ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + "ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„‚่‚ช่Ž็ธฎ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/http://nanbyodata.jp/ontology/NANDO_1200858
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_38_083/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200033http://nanbyodata.jp/ontology/NANDO_2100147
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004380 + skos:altLabel + "่„‚่‚ช็•ฐๆ „้คŠ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005764http://purl.obolibrary.org/obo/MONDO_0006573
skos:prefLabel - "ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + "่„‚่‚ช่Ž็ธฎ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200035 +
http://nanbyodata.jp/ontology/NANDO_2200405 (rdf:type owl:Class @@ -92991,60 +145505,107 @@

hasNotificationNumber47hasNotificationNumber64
+ dcterms:description + "ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ€่†ตๆถˆๅŒ–็ฎกๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ€ไธ‹ๅž‚ไฝ“่…บ่…ซใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…บ่…ซใพใŸใฏ้Žๅฝขๆˆใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200035NANDO:2200405
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_39_084_01.pdf
rdfs:label - "Interdigitating dendritic cell sarcoma" + "Multiple endocrine neoplasia type 1" @en
rdfs:label - "ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + "ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=531
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_39_084/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200033http://nanbyodata.jp/ontology/NANDO_2100148
+ skos:altLabel + "MEN1" + @en
+ skos:altLabel + "Wermer syndrome" + @en
+ skos:altLabel + "Wermer็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ใ‚ฆใ‚งใƒซใƒžใƒผ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005813http://purl.obolibrary.org/obo/MONDO_0007540
skos:prefLabel - "ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ" + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200036 +
http://nanbyodata.jp/ontology/NANDO_2200406 (rdf:type owl:Class @@ -93052,60 +145613,112 @@

hasNotificationNumber47hasNotificationNumber65
+ dcterms:description + "็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…ซ็˜ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200036NANDO:2200406
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_39_085_01.pdf
rdfs:label - "Langerhans cell sarcoma" + "Multiple endocrine neoplasia type 2" @en
rdfs:label - "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ" + "ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1211
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_39_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200033http://nanbyodata.jp/ontology/NANDO_2100148
+ skos:altLabel + "MEN 2" + @en
+ skos:altLabel + "Sipple syndrome" + @en
+ skos:altLabel + "Sipple็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ใ‚ทใƒƒใƒ—ใƒซ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019480http://purl.obolibrary.org/obo/MONDO_0008234
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019003
skos:prefLabel - "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ" + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹" @ja
- - + - - + + + + + + - + - + + "84ใŠใ‚ˆใณ85ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200037 +
http://nanbyodata.jp/ontology/NANDO_2200407 (rdf:type owl:Class @@ -93113,60 +145726,69 @@

hasNotificationNumber47hasNotificationNumber66
+ dcterms:description + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ใŠใ‚ˆใณ2ๅž‹ใซๅฑžใ•ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹Von Hippel-Lindau็—…ใŠใ‚ˆใณVon Recklinghausen็—…ใ€ใใฎไป–ใŒๅซใพใ‚Œใ‚‹๏ผˆใŸใ ใ—ใ€Von Recklinghausen็—…ใซใคใ„ใฆใฏ ็šฎ่†š็–พๆ‚ฃ11. ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… ใ‚’ๅ‚็…งใฎใ“ใจ๏ผ‰ใ€‚" + @ja
dcterms:identifier2200037NANDO:2200407
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_39_086_01.pdf
rdfs:label - "Juvenile xanthogranuloma" - @en
rdfs:label - "่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ" + "84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" @ja
+ rdfs:label + "Other Multiple endocrine neoplasia" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/https://www.shouman.jp/disease/details/05_39_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200033
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015534http://nanbyodata.jp/ontology/NANDO_2100148
skos:prefLabel - "่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ" + "84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200038 +
http://nanbyodata.jp/ontology/NANDO_2200408 (rdf:type owl:Class @@ -93174,65 +145796,72 @@

hasNotificationNumber47hasNotificationNumber66
dcterms:identifier2200038NANDO:2200408
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_39_086_01.pdf
rdfs:label - "Erdheim-Chester disease" + "Von Hippel-Lindau disease" @en
rdfs:label - "ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…" + "Von Hippel-Lindau็—…" @ja
+ rdfs:label + "ใตใ‰ใ‚“ใฒใฃใบใ‚‹ใ‚Šใ‚“ใฉใ†ใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02425http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1637
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/https://www.shouman.jp/disease/details/05_39_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200033http://nanbyodata.jp/ontology/NANDO_2200407
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018153http://purl.obolibrary.org/obo/MONDO_0008667
skos:prefLabel - "ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…" + "Von Hippel-Lindau็—…" @ja
- - + - - + + + + + + - + - + + + + + - + - - - - - - - - - - - - - - - - - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200039 +
http://nanbyodata.jp/ontology/NANDO_2200409 (rdf:type owl:Class @@ -93240,96 +145869,84 @@

hasNotificationNumber47hasNotificationNumber63
+ dcterms:description + "1935ๅนดใซใ€ไธกๅดๅตๅทฃใฎๅคšๅšข่ƒžๆ€ง่…ซๅคงใจ่‚ฅๆบ€ใƒป็”ทๆ€งๅŒ–ๅพดๅ€™ใ‚’ไผดใ†ๆœˆ็ตŒ็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹Stein-Leventhal็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ไปฅๅพŒ๏ฝคๆˆไบบใซใŠใ„ใฆใฏๆŽ’ๅต้šœๅฎณใ‚’ไผดใ†็—‡ๅ€™็พคใจใ—ใฆไธ€่ˆฌๅŒ–ใ—ใŸใŒใ€ๅฟ…ใšใ—ใ‚‚็‰นๅพด็š„ๅพดๅ€™ใ‚’ๆœ‰ใ•ใชใ„PCOS็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๅŸบๆบ–ใŒๆ›–ๆ˜งใจใชใฃใฆใ„ใŸใ€‚ๆตทๅค–ใงใฏ1990ๅนดใซNIHใŒๆŽ’ๅต้šœๅฎณใจ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใฎไบŒใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†่จบๆ–ญๅŸบๆบ–ใ‚’ไฝœๆˆใ—ใ€2003ๅนดใซESHRE/ASRMใฎใ€ใ„ใ‚ใ‚†ใ‚‹Rotterdam CriteriaใŒ็ญ–ๅฎšใ•ใ‚Œใ€ๆŽ’ๅต้šœๅฎณใ€้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎใ†ใกไบŒใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจใ—ใ€ใ“ใ‚ŒใŒไธ–็•Œ็š„ใซใฏๆœ€ใ‚‚ๅคšใไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2009ๅนดใซใฏAES๏ผˆAndrogen Excess Society๏ผ‰ใŒ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ‚’่ชใ‚ใชใ„PCOSใฎๅญ˜ๅœจใซ็–‘ๅ•ใ‚’ๅ‘ˆใ—ใ€ๆœชใ ่ญฐ่ซ–ใฏ็ถ™็ถšใ—ใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆ–นๆœฌ้‚ฆใงใฏใ€ๆฌง็ฑณใจใฎ่กจ็พๅž‹ใŒ็•ฐใชใ‚‹ใ“ใจใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€็‰นใซ่‚ฅๆบ€ใ‚’ไผดใ†ไพ‹ใŒๅฐ‘ใชใ„ใ“ใจใ€ๆฑใ‚ขใ‚ธใ‚ข็ณปใงใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใงใ‚‚ๅคšๆฏ›ใ‚’ๆฅใ•ใชใ„ไพ‹ใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€ๆฌง็ฑณใฎๅฎš็พฉใ‚’ใใฎใพใพๅฝ“ใฆใฏใ‚ใ‚‹ใ“ใจใซใฏ็„ก็†ใŒใ‚ใฃใŸใ€‚ใใ“ใงๆ—ฅๆœฌ็”ฃๅฉฆไบบ็ง‘ๅญฆไผšใฏใ€1993ๅนดใซ็”ŸๅŒ–ๅญฆใƒ‡ใƒผใ‚ฟใ‚’็››ใ‚Š่พผใฟ๏ฝคๆŽ’ๅต้šœๅฎณใ€้ซ˜LHใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ใ—ใ‹ใ—ใ€LHๆธฌๅฎš็ณปใฎๅ•้กŒใชใฉใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ€2007ๅนดใซใฏใ“ใ‚Œใ‚’ๆ”นๅฎšใ—ใ€ๆœˆ็ตŒ็•ฐๅธธ๏ผˆๆŽ’ๅต้šœๅฎณ๏ผ‰ใ€้ซ˜LHใพใŸใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใ€ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚" + @ja
dcterms:identifier2200039NANDO:2200409
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_04_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_40_087_01.pdf
rdfs:label - "Rosai-Dorfman disease" + "Polycystic ovary syndrome" @en
rdfs:label - "ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…" + "ใŸใฎใ†ใปใ†ใ›ใ„ใ‚‰ใ‚“ใใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4092http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1463
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_04_026/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200033
- skos:altLabel - "RDD" - @en
- skos:altLabel - "Sinus histiocytosis with massive lymphadenopathy" - @en
- skos:altLabel - "ๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡" - @jahttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01739
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006412 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_40_087/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011273 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100149
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044354http://purl.obolibrary.org/obo/MONDO_0008487
skos:prefLabel - "ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…" + "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใŸใƒผใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200040 +
http://nanbyodata.jp/ontology/NANDO_2200410 (rdf:type owl:Class @@ -93337,72 +145954,81 @@

hasNotificationNumber20hasNotificationNumber88
dcterms:description - "็ฅž็ตŒ่Šฝ่…ซใฏ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญVMA/HVAใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡30๏ฝž40%ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "45,Xใ‚’ไปฃ่กจใจใ™ใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใง๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใƒขใƒŽใ‚ฝใƒŸใƒผใฎไป–ใซ๏ผŒi(Xq), Xp-, Yp-ใชใฉใฎๆง‹้€ ็•ฐๅธธ๏ผŒใŠใ‚ˆใณ๏ผŒ็จฎใ€…ใฎใƒขใ‚ถใ‚คใ‚ฏใชใฉใŒๅซใพใ‚Œใ‚‹๏ผŽ่‡จๅบŠ็š„ใซใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ง่…บ็•ฐๅฝขๆˆ๏ผŒ็‰นๅพด็š„ๅฅ‡ๅฝขๅพดๅ€™ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œ๏ผŒใพใŸ๏ผŒ้ซ˜ๅบฆใฎๆต็”ฃ็Ž‡ใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽ็พๅœจ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใฎๆญฃ็ขบใชๅฎš็พฉใฏใชใ„ใŒ๏ผŒ้€šๅธธใฎๆŸ“่‰ฒไฝ“ๆคœๆŸปใง่ช่ญ˜ใ•ใ‚Œใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธใจไธŠ่จ˜ใฎ่‡จๅบŠ็—‡็Šถใฎๅฐ‘ใชใใจใ‚‚๏ผ‘ใคใŒๅญ˜ๅœจใ™ใ‚‹ใจใ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ—ใฆใ‚ˆใ„ใจ่€ƒใˆใ‚‹๏ผŽ็‰นใซ๏ผŒๅพŒ่ฟฐใฎใ‚ˆใ†ใซใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค็™บ็—‡ใฎ่ฒฌไปป้บไผๅญใฏXๆŸ“่‰ฒไฝ“็Ÿญ่…•ใจYๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซๅญ˜ๅœจใ™ใ‚‹ใŸใ‚๏ผŒๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆฌ ๅคฑใจ็‰นๅพด็š„่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใฏ่จบๆ–ญ็‰น็•ฐ็š„ใงใ‚ใ‚‹๏ผŽใ“ใฎๆ–‡่„ˆใ‹ใ‚‰SHOXใ‚’ๅซใ‚€ๆŸ“่‰ฒไฝ“ๆคœๆŸปใงๆคœๅ‡บใงใใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎๅพฎๅฐๆฌ ๅคฑใฏใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใŒ๏ผŒๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒๅญ˜ๅœจใ—ใฆใ‚‚่‡จๅบŠ็—‡็ŠถใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑ๏ผ‰ใ‚„๏ผŒ่‡จๅบŠ็—‡็ŠถใŒๅญ˜ๅœจใ—ใฆใ‚‚ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšSHOXใ‚’ๅซใ‚€ๅพฎๅฐๆฌ ๅคฑ๏ผ‰ใซใฏ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจใ„ใ†่จบๆ–ญใฏ้ฟใ‘ใ‚‹ในใใง๏ผŒๅ‰่€…ใฏXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑใซใ‚ˆใ‚‹ไบŒๆฌกๆ€ง็„กๆœˆ็ตŒ๏ผŒๅพŒ่€…ใฏ๏ผŒSHOX็•ฐๅธธ็—‡ใจ่จบๆ–ญใ™ใ‚‹๏ผŽ" @ja
dcterms:identifier2200040NANDO:2200410
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_41_088_01.pdf
rdfs:label - "Neuroblastoma" + "Turner syndrome" @en
rdfs:label - "็ฅž็ตŒ่Šฝ่…ซ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00043 + rdfs:label + "ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_027/https://www.shouman.jp/disease/details/05_41_088/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100150
+ skos:altLabel + "Turner็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005072http://purl.obolibrary.org/obo/MONDO_0019499
skos:prefLabel - "็ฅž็ตŒ่Šฝ่…ซ" + "ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200041 +
http://nanbyodata.jp/ontology/NANDO_2200411 (rdf:type owl:Class @@ -93410,67 +146036,91 @@

hasNotificationNumber21hasNotificationNumber91
dcterms:description - "็ฅž็ตŒ็ฏ€่Šฝ่…ซใฏ็ฅž็ตŒ่Šฝ่…ซ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญ VMA / HVA ใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡ 30 ๏ฝž 40 % ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "ใƒ—ใƒฉใƒ€ใƒผใ‚ฆใ‚คใƒชใƒผ็—‡ๅ€™็พค๏ผˆPWS๏ผ‰ใฏใ€1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚คใƒชใƒผใŒๅ ฑๅ‘Šใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธใซใฏ่‚ฅๆบ€ใ€็ณ–ๅฐฟ็—…ใ€ไฝŽ่บซ้•ทใ€ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใชใฉใŒใ€็ฅž็ตŒๅญฆ็š„็•ฐๅธธใซใฏ็™บ้”้…ๆปžใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€็‰น็•ฐใชๆ€งๆ ผ้šœๅฎณใƒป่กŒๅ‹•็•ฐๅธธใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200041NANDO:2200411
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_41_089_01.pdf
rdfs:label - "Ganglioneuroblastoma" + "Prader-Willi syndrome" @en
rdfs:label - "็ฅž็ตŒ็ฏ€่Šฝ่…ซ" + "ใทใ‚‰ใ ใƒผใƒปใ†ใƒใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_028/http://nanbyodata.jp/ontology/NANDO_1200678
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1273
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_41_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100150
+ skos:altLabel + "Prader-Willi็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005035http://purl.obolibrary.org/obo/MONDO_0008300
skos:prefLabel - "็ฅž็ตŒ็ฏ€่Šฝ่…ซ" + "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200042 +
http://nanbyodata.jp/ontology/NANDO_2200412 (rdf:type owl:Class @@ -93478,77 +146128,91 @@

hasNotificationNumber40hasNotificationNumber92
dcterms:description - "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€่ƒŽๅ…ๆ€ง็ฅž็ตŒ็ถฒ่†œ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚่…ซ็˜ใŒ็‰‡็œผใฎใฟใซ็™บ็—‡ใ™ใ‚‹็‰‡ๅดๆ€ง๏ผˆunilateral๏ผ‰ใจไธก็œผใซ็™บ็—‡ใ™ใ‚‹ไธก็œผๆ€ง๏ผˆbilateral๏ผ‰ใŒใ‚ใ‚‹ใ€‚็œผ็ƒใซ่…ซ็˜ใ‚’ๅ˜ๆ•ฐ่ชใ‚ใ‚‹ๅ˜ๅทฃๆ€ง(unifocal)ใ€ๅคšๆ•ฐๅŒๆ™‚ใซ่ชใ‚ใ‚‹ๅคšๅทฃๆ€ง(multifocal)ใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใฎๆง˜ๅผใซใ‚ˆใ‚Šใ€้บไผๆ€ง(hereditary)ใ€้ž้บไผๆ€ง(non-hereditary)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€13็•ชๆŸ“่‰ฒไฝ“ใฎ้•ท่…•ใฎใƒใƒณใƒ‰14(13q14)ใซๅญ˜ๅœจใ™ใ‚‹็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ้บไผๅญ(RB1้บไผๅญ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚RB๏ผ‘้บไผๅญใฏใ€ใŒใ‚“ๆŠ‘ๅˆถ้บไผๅญใฎๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸ้บไผๅญใงใ‚ใ‚Šใ€็ดฐ่ƒžๅ‘จๆœŸใฎๅˆถๅพกใ‚’ใฏใ˜ใ‚ใ€็ดฐ่ƒžใฎๅˆ†่ฃ‚ๅข—ๆฎ–ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ€‚2ๅฏพใฎ้บไผๅญใฎๅŒๆ–นใซ็•ฐๅธธใŒใŠใ“ใ‚Šใ€ใใฎๆฉŸ่ƒฝใŒๆฌ ๅคฑใ—ใฆ็™บ็—‡ใซใ„ใŸใ‚‹๏ผˆKnudsonใฎ๏ผ’ใƒ’ใƒƒใƒˆ่ชฌ๏ผ‰ใ€‚้บไผๆ€งไพ‹ใงใฏใ€RB๏ผ‘้บไผๅญ็•ฐๅธธใŒใ€ๅ—็ฒพๆ™‚ใซ่ƒš็ดฐ่ƒžใƒฌใƒ™ใƒซใงใŠใ“ใฃใฆใŠใ‚Š๏ผˆgerm line mutation็”Ÿๆฎ–็ดฐ่ƒž็ณปๅˆ—ๅค‰็•ฐ๏ผ‰ใ€ๅ…จ่บซใฎใ‚ใ‚‰ใ‚†ใ‚‹็ดฐ่ƒžใซ้บไผๅญ็•ฐๅธธใ‚’ใ‚‚ใกใ€ๅพŒใซไบŒๆฌกใŒใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚้ž้บไผๆ€งไพ‹ใงใฏใ€ๅ—็ฒพๅพŒใซไฝ“็ดฐ่ƒžใƒฌใƒ™ใƒซใง้บไผๅญ็•ฐๅธธใ‚’ใŠใ“ใ—๏ผˆsomatic mutation ไฝ“็ดฐ่ƒžๅค‰็•ฐ๏ผ‰็™บ็—‡ใซใ„ใŸใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไบŒๆฌกใŒใ‚“ใฎ็™บ็—‡ใฏไธ€่ˆฌไบบใจๅค‰ใ‚ใ‚Šใชใ„ใ€‚" + "็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใ€็ทš็ถญๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅพดๅ€™ใŒๆ˜Žใ‚‰ใ‹ใชๅ ดๅˆใจใ€ๅพใ€…ใซ่‡จๅบŠ็—‡็ŠถใŒ็พใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚Šใ€ไธ‰ไธปๅพดใŒใ™ในใฆๆƒใ‚ใชใ„ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚10ๆญณไปฅไธ‹ใฎๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใฏๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200042NANDO:2200412
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_41_090_01.pdf
rdfs:label - "Retinoblastoma" + "McCune-Albright syndrome" @en
rdfs:label - "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ" + "ใพใฃใใ‚…ใƒผใ‚“ใƒปใŠใ‚‹ใถใ‚‰ใ„ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1361http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1245
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01513http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1246
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_029/https://www.shouman.jp/disease/details/05_41_090/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100150
+ skos:altLabel + "McCune-Albright็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008380http://purl.obolibrary.org/obo/MONDO_0018919
skos:prefLabel - "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ" + "ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200043 +
http://nanbyodata.jp/ontology/NANDO_2200413 (rdf:type owl:Class @@ -93556,98 +146220,86 @@

hasNotificationNumber5hasNotificationNumber89
dcterms:description - "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚" + "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พคใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ๆ˜ฅๆœŸ้…็™บ๏ผŒๅฟƒๅฅ‡ๅฝข๏ผŒ็‰นๅพด็š„ๅค–่กจๅฅ‡ๅฝข๏ผˆ็œผ้–“ไน–้›ข๏ผŒ็ฟผ็Šถ้ š๏ผŒๅค–ๅ่‚˜ใชใฉ๏ผ‰ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅ…ˆๅคฉๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹๏ผŽ็Ÿฅ่ƒฝไฝŽไธ‹๏ผŒ้›ฃ่ด๏ผŒๅ‡บ่ก€ๆ€ง็ด ๅ› ๏ผŒ็”ทๅ…ๅค–ๆ€งๅ™จๅฝขๆˆ้šœๅฎณใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œ๏ผŒ่ƒŽๅ…ๆฐด่…ซใ‚„็™ฝ่ก€็—…๏ผˆ็‰นใซjuvenile myelomonocytic leukemia, JMML๏ผ‰ใ€ใ•ใ‚‰ใซใฏๅ›บๅฝข่…ซ็˜ใ‚‚ใจใใซๅ‡บ็พใ™ใ‚‹๏ผŽ" @ja
dcterms:identifier2200043NANDO:2200413
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_41_091_01.pdf
rdfs:label - "Wilms tumour" + "Noonan syndrome" @en
rdfs:label - "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ" + "ใฌใƒผใชใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1649http://nanbyodata.jp/ontology/NANDO_1200680
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_030/https://www.shouman.jp/disease/details/05_41_091/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006
- skos:altLabel - "Nephroblastoma" - @en
- skos:altLabel - "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜" - @jahttp://nanbyodata.jp/ontology/NANDO_2100150
skos:altLabel - "่…Ž่Šฝ่…ซ" + "Noonan็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008679
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019004http://purl.obolibrary.org/obo/MONDO_0018997
skos:prefLabel - "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ" + "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200044 +
http://nanbyodata.jp/ontology/NANDO_2200414 (rdf:type owl:Class @@ -93655,67 +146307,86 @@

hasNotificationNumber23hasNotificationNumber90
dcterms:description - "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏ่‚ฅๆบ€ใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ€ๆ…ขๆ€ง่…Ž้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅคšๆŒ‡็—‡ใƒปๅˆๆŒ‡็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹่‚็กฌๅค‰ใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใƒญใƒผใƒฌใƒณใ‚นใƒปใƒ ใƒผใƒณใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒ ๅคšใ„ใŒใ€ใใ‚Œใฏไธ–็•Œ็š„ใซใฏ่‚ฅๆบ€ใฎใชใ„ๅˆฅใฎ็–พๆ‚ฃใ‚’ๆŒ‡ใ™ใจใ•ใ‚Œใ‚‹ใ€‚้€šๅธธใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่จบๆ–ญใ•ใ‚Œใ‚‹ใŒใ€ๆ™‚ใซๆˆไบบใซใชใฃใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200044NANDO:2200414
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_41_092_01.pdf
rdfs:label - "Clear cell sarcoma of the kidney" + "Bardet-Biedl syndrome" @en
rdfs:label - "่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + "ใฐใ‚‹ใงใƒผใƒปใณใƒผใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_031/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00418
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_41_092/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100150
+ skos:altLabel + "Bardet-Biedl็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005006http://purl.obolibrary.org/obo/MONDO_0015229
skos:prefLabel - "่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + "ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200045 +
http://nanbyodata.jp/ontology/NANDO_2200415 (rdf:type owl:Class @@ -93723,77 +146394,91 @@

hasNotificationNumber22hasNotificationNumber8
dcterms:description - "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚" + "ไปฅๅ‰ใฏ ่‹ฅๅนดๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจๅ‘ผใฐใ‚ŒใŸ็—…ๆ…‹ใ‚’ๅซใ‚€ใ€‚ๅ›ฝ้š›ใƒชใ‚ฆใƒžใƒๅญฆไผš๏ผˆInternational Leagues of associations for Rheumatism: ILAR๏ผ‰ใฎๅฐๅ…ใƒชใ‚ฆใƒžใƒๅธธไปปๅง”ๅ“กไผšใŒ1994ๅนดใฎSantiagoไผš่ญฐใซใŠใ„ใฆใ€Œ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—ใ€6้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้–ข็ฏ€็‚Žใงใ€ไป–ใฎ็—…ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใ€ใ‚’่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis: JIA๏ผ‰ใจๅฎš็พฉใ—ใŸใ€‚ใใฎๅพŒ1997ๅนดใฎDurbanๆ”น่จ‚ใ€2001ๅนดใฎEdmontonๆ”น่จ‚ใ‚’็ตŒใฆใ€็พๅœจILARๅˆ†้กžใฏๅฐๅ…ใฎๆ…ขๆ€ง้–ข็ฏ€็‚Žใฎๅ›ฝ้š›ๅŸบๆบ–ใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€ILARๅˆ†้กžใฏJIAใ‚’ไธ‹่จ˜ใฎ7็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€€ๆœฌ้‚ฆใซใŠใ„ใฆใ‚‚ใ€ๆ—ฅๆœฌๅฐๅ…ใƒชใ‚ฆใƒžใƒๅญฆไผšใŒไธŠ่จ˜ๅˆ†้กžใซใ‚‚ใจใฅใใ€Œ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽๅˆๆœŸ่จบ็™‚ใฎๆ‰‹ๅผ•ใ๏ผˆ2007ๅนด๏ผ‰ใ€ใ‚’ไฝœๆˆใ—ใŸใ€‚ใ—ใ‹ใ—ใ€็™บ็—‡ๆ—ฉๆœŸใซใฏILARๅˆ†้กžใ‚’็”จใ„ใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใŸใ‚ใ€ๆœฌ้‚ฆใฎๅฐๅ…่จบ็™‚ใฎๅฎŸๆƒ…ใซๅˆใ‚ใ›ใ€ๆ–ฐใŸใซใ€Ž่จบๆ–ญใฎๆ‰‹ๅผ•ใใ€ใ‚’็ญ–ๅฎšใ—ใŸใ€‚่กจ๏ผš่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽILARๅˆ†้กž๏ผˆ2001๏ผ‰" @ja
dcterms:identifier2200045NANDO:2200415
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "Renal cell carcinoma" + "Juvenile idiopathic arthritis" @en
rdfs:label - "่…Ž็ดฐ่ƒž็™Œ" + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00021http://nanbyodata.jp/ontology/NANDO_1200469
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_032/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9464
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100152
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005086 + skos:altLabel + "JIA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005549http://purl.obolibrary.org/obo/MONDO_0011429
skos:prefLabel - "่…Ž็ดฐ่ƒž็™Œ" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
- - + - + - + - + + + + + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200046 +
http://nanbyodata.jp/ontology/NANDO_2200416 (rdf:type owl:Class @@ -93801,77 +146486,91 @@

hasNotificationNumberhasNotificationNumber 9
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นsystemic lupus erythematosus (SLE)ใฏใ€็ด…ๆ–‘ๆ€ง็‹ผ็˜ก๏ผˆใ“ใ†ใฏใ‚“ใ›ใ„ใ‚ใ†ใใ†๏ผ‰lupus erythematosusใจใ‚ˆใฐใ‚Œใ‚‹็šฎ็–นใ‚’็‰นๅพดใจใ—ใ€็™บ็†ฑใ‚„ๅ€ฆๆ€ ๆ„Ÿใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚Šใ€ๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใ‹ใ‚‰ใชใ‚‹ๅ…็–ซ่ค‡ๅˆไฝ“ใŒ่ก€็ฎกใซๆฒˆ็€ใ—ใ€่ฃœไฝ“็ณปใ‚’ๆดปๆ€งๅŒ–ใ—ใฆ่ก€็ฎกใ‚„็ต„็น”ใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ“ใจใงใ€็šฎ่†š(็šฎ็–น)ใ€่…Ž่‡“(ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž)ใ€ไธญๆžข็ฅž็ตŒ็ณป(CNSใƒซใƒผใƒ—ใ‚น)ใชใฉใซๅคšๅฝฉใช่‡“ๅ™จ็—…ๅค‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใ€€ๅฐๅ…SLEใจใฏ16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใŒใ€ๆˆไบบไพ‹ใจๆฏ”ในใฆไธ€่ˆฌใซ็ตŒ้Žใฏๆ€ฅๆ€งใง้‡็—‡ไพ‹ใŒๅคšใ„ใ€‚" @ja
dcterms:identifier2200046NANDO:2200416
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_002_01.pdf
rdfs:label - "Hepatoblastoma" + "systemic lupus erythematosus" @en
rdfs:label - "่‚่Šฝ่…ซ" + "ใœใ‚“ใ—ใ‚“ใ›ใ„ใˆใ‚Šใฆใพใจใƒผใงใ™" + @ja-Hira
+ rdfs:label + "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02302http://nanbyodata.jp/ontology/NANDO_1200272
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_033/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=902
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100152
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007256 + skos:altLabel + "SLE" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018666http://purl.obolibrary.org/obo/MONDO_0007915
skos:prefLabel - "่‚่Šฝ่…ซ" + "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" @ja
- - + - + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200047 +
http://nanbyodata.jp/ontology/NANDO_2200417 (rdf:type owl:Class @@ -93879,72 +146578,74 @@

hasNotificationNumberhasNotificationNumber 10
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž(JDM)ใฏ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—็‰นๅพด็š„ใช็šฎ็–นใจๅฏพ็งฐ็š„็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็šฎ่†šใŠใ‚ˆใณ็ญ‹่‚‰ใฎ็—‡็ŠถใŒๅ…ฑใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใฏๅคๅ…ธ็š„JDMใจใ™ใ‚‹๏ผŽJDMใฏ็—…ๆ…‹ใ‚„ไบˆๅพŒใชใฉใฎ้•ใ„ใ‹ใ‚‰ๆˆไบบใฎ็šฎ่†š็ญ‹็‚Ž(DM)ใจใฏๅˆ†ใ‘ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽๅ…ธๅž‹็š„ใช็šฎ่†šๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใชใŒใ‚‰ๆ˜Žใ‚‰ใ‹ใช็ญ‹็—‡็Šถใ‚’่ชใ‚ใชใ„ใ‚‚ใฎ่‹ฅๅนด็™บ็—‡่‡จๅบŠ็š„็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž(juvenile-onset clinically amyopathic dermatomyositis,JCADM)ใจใ•ใ‚Œ๏ผŒใ“ใ‚ŒใซใฏๆคœๆŸปไธŠ็ญ‹็‚Žใ‚’็คบใ™ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใจ่ชใ‚ใชใ„ๅ ดๅˆใŒใ‚ใ‚‹(่‡จๅบŠ็—‡็Šถใฎ้ …ใ‚’ๅ‚็…ง)๏ผŽใพใŸ็‚Ž็—‡ๆ€ง็ญ‹็‚Žใ‚’ๅ‘ˆใ—ใชใŒใ‚‰็šฎ่†š็—‡็Šถใ‚’ๆฌ ใใ‚‚ใฎใฏ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž(JPM)ใจใ•ใ‚Œใ‚‹ใŒๅฐๅ…ใซใŠใ„ใฆใฏใพใ‚Œใงใ‚ใ‚‹๏ผŽ" @ja
dcterms:identifier2200047NANDO:2200417
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_003_01.pdf
rdfs:label - "Hepatocellular carcinoma" + "juvenile dermatomyositis, polymyositis" @en
rdfs:label - "่‚็ดฐ่ƒž็™Œ" + "ใฒใตใใ‚“ใˆใ‚“๏ผใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00048http://nanbyodata.jp/ontology/NANDO_1200273
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_034/https://www.shouman.jp/disease/details/06_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007256http://nanbyodata.jp/ontology/NANDO_2100152
skos:prefLabel - "่‚็ดฐ่ƒž็™Œ" + "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200048 +
http://nanbyodata.jp/ontology/NANDO_2200418 (rdf:type owl:Class @@ -93952,77 +146653,79 @@

hasNotificationNumber15
- dcterms:description - "้ชจ่‚‰่…ซ๏ผˆosteosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจใ‚’ๅฝขๆˆใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่ก€็ฎกๆ‹กๅผตๅž‹้ชจ่‚‰่…ซ๏ผŒๅฐ็ดฐ่ƒžๅž‹้ชจ่‚‰่…ซ๏ผŒไฝŽๆ‚ชๆ€งๅบฆไธญๅฟƒๆ€ง้ชจ่‚‰่…ซ๏ผŒๆ”พๅฐ„็ทš็…งๅฐ„ๅพŒใ‚„Paget็—…ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€ง้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใฏ็ต„็น”ๅญฆ็š„ใซosteoblastic type๏ผŒchondroblastic type๏ผŒfibroblastic typeใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ" - @jahasNotificationNumber10
dcterms:identifier2200048NANDO:2200418
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_003_01.pdf
rdfs:label - "Osteosarcoma" + "juvenile dermatomyositis" @en
rdfs:label - "้ชจ่‚‰่…ซ" + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใฒใตใใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00036http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1042
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_035/https://www.shouman.jp/disease/details/06_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200417
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002623 + skos:altLabel + "JDM" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009807http://purl.obolibrary.org/obo/MONDO_0008054
skos:prefLabel - "้ชจ่‚‰่…ซ" + "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใŸใฏใคใ›ใ„ใฒใตใใ‚“ใˆใ‚“" + @ja-Hira - - + + - + - - - - - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200049 +
http://nanbyodata.jp/ontology/NANDO_2200419 (rdf:type owl:Class @@ -94030,82 +146733,74 @@

hasNotificationNumber14
- dcterms:description - "้ชจ่ปŸ้ชจ่…ซ๏ผˆosteochondroma๏ผ‰ใจใฏ้•ท็ฎก้ชจใฎๆˆ้•ท่ปŸ้ชจๅ‘จๅ›ฒใซ็™บ็”Ÿใ™ใ‚‹่ปŸ้ชจๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚Š๏ผŒ้ชจใฎๅค–ๅดใซๅ‘ใ‹ใฃใฆ้š†่ตทๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ“ใจใ‹ใ‚‰ๅค–้ชจ่…ซ๏ผˆexostosis๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผŽ็•ฐๆ‰€ๆ€งใซๆˆ้•ท่ปŸ้ชจๆง˜่ปŸ้ชจ็ดฐ่ƒž้›†ๅ›ฃใŒ็™บ็”Ÿใ—๏ผŒๆˆ้•ทใซไผดใฃใฆๆˆ้•ท่ปŸ้ชจใจๅŒๆง˜ใซ่ปŸ้ชจๅข—ๆฎ–ใจ่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ่ตทใใ‚‹ใŸใ‚๏ผŒใใฎๅ…ˆ็ซฏใซ่ปŸ้ชจๅธฝใจใ‚ˆใฐใ‚Œใ‚‹่ปŸ้ชจ็ต„็น”ใ‚’ๆœ‰ใ™ใ‚‹้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹๏ผŽๅ…ธๅž‹็š„ใชๅ˜็ด”X็ทšๅƒใฏ้•ท็ฎก้ชจ้ชจ็ซฏๅ‘จๅ›ฒใฎ้ชจใจใฎ้€ฃ็ถšๆ€งใ‚’ๆœ‰ใ™ใ‚‹ๆœ‰่ŒŽๆ€งใพใŸใฏๅบƒๅŸบๆ€งใฎ้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใงใ‚ใ‚‹๏ผŽ่ปŸ้ชจๅธฝใฏๅ˜็ด”X็ทšใงใฏๅŒๅฎšใงใใชใ„ใŒ๏ผŒ็Ÿณ็ฐๅŒ–ใซใ‚ˆใ‚Š็ขบ่ชใงใใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ชจ่ปŸ้ชจ่…ซใฏๅ˜็™บๆ€ง๏ผŒๅคš็™บๆ€งใŒใ‚ใ‚‹๏ผŽๅ˜็™บๆ€งใฏ้€šๅธธๅญค็™บๆ€งใงใ‚ใ‚Š๏ผŒๅคš็™บๆ€งใฏ90%ใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹๏ผŽๅฎถๆ—ๆ€งใซ็™บ็”Ÿใ™ใ‚‹ๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚’ๅ…ˆๅคฉๆ€งๅคš็™บๆ€งๅค–้ชจ่…ซ๏ผˆhereditary multiple exostosis: HME๏ผ‰ใจๅ‘ผใถ๏ผŽ" - @jahasNotificationNumber10
dcterms:identifier2200049NANDO:2200419
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_003_01.pdf
rdfs:label - "Osteochondromatosis" + "juvenile polymyositis" @en
rdfs:label - "้ชจ่ปŸ้ชจ่…ซ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1133 + rdfs:label + "่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_036/https://www.shouman.jp/disease/details/06_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005508http://nanbyodata.jp/ontology/NANDO_2200417
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007585 + skos:altLabel + "JPM" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008145http://purl.obolibrary.org/obo/MONDO_0019734
skos:prefLabel - "้ชจ่ปŸ้ชจ่…ซ็—‡" + "่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200050 +
http://nanbyodata.jp/ontology/NANDO_2200420 (rdf:type owl:Class @@ -94113,67 +146808,98 @@

hasNotificationNumber32hasNotificationNumber7
dcterms:description - "่ปŸ้ชจ่‚‰่…ซ๏ผˆchondrosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใ‚’ไผดใ†ใŒ๏ผŒ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’ไผดใ‚ใชใ„ๆ‚ชๆ€ง้ชจ่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใจ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใฏ้ชจ่‚‰่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผ‰๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่„ฑๅˆ†ๅŒ–ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒ้–“่‘‰ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒๆทกๆ˜Ž็ดฐ่ƒžๅž‹่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใฏ็ดฐ่ƒžๅฏ†ๅบฆใ‚„ๆ ธ็•ฐๅž‹๏ผŒ้ชจๆขใธใฎๆตธๆฝคใชใฉใฎๆ‰€่ฆ‹ใ‹ใ‚‰ไฝŽๆ‚ชๆ€งๅบฆใฎgrade 1๏ผŒ้ซ˜ๆ‚ชๆ€งๅบฆใฎgrade 2๏ผŒgrade 3ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใซใฏ๏ผŒๅŽŸ็™บๆ€ง่ปŸ้ชจ่‚‰่…ซใจๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚„ๅคš็™บๆ€งๅ†…่ปŸ้ชจ่…ซใชใฉใฎๅ…ˆ่กŒ็—…ๅค‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไบŒๆฌกๆ€ง่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ" + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค (Sjรถgrenโ€™s syndrome: ไปฅไธ‹SS)ใฏใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซๅ‚ทๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ๅ…จ่บซๆ€งใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅค–ๅˆ†ๆณŒ่…บ็—‡ (autoimmune exocrinopathy)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บใฎไธญใงใ‚‚ๆถ™่…บใƒปๅ”พๆถฒ่…บใฎ้šœๅฎณใŒไธปใงใ€้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚Œใฐใ€ๆถ™ๆถฒๅˆ†ๆณŒใฎไฝŽไธ‹ใซใ‚ˆใ‚‹็œผใฎไนพ็‡ฅใ€ๅ”พๆถฒๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹ๅฃใฎไนพ็‡ฅใชใฉใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็—‡็Šถใฏใ‹ใชใ‚‰ใšใ—ใ‚‚่‡ช่ฆš็—‡็Šถใจใชใ‚‹ใ‚ใ‘ใงใชใใ€็พžๆ˜Žๆ„Ÿใ€็œผใฎ็•ฐ็‰ฉๆ„Ÿใ€ใ†ๆญฏใฎๅข—ๅŠ ใ€ๅฃๅ†…็‚Žใฎๅคš็™บใชใฉใฎ็—‡็Šถใจใ—ใฆ่กจใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใง็จฎใ€…ใฎ่‡ชๅทฑๆŠ—ไฝ“ใฎ็”ฃ็”ŸใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณๅ€คใŒ้ซ˜ๅ€คใจใชใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใจใ—ใฆใฏๆŠ—ๆ ธๆŠ—ไฝ“(ๆ–‘็ด‹ๅž‹)ใ€ๆŠ—SS-A/RoๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒๅ› ๅญใฎ้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ€‚ๆŠ—SS-B/LaๆŠ—ไฝ“ใฏSSใซ็‰น็•ฐๆ€งใฏ้ซ˜ใ„ใจใ•ใ‚Œใ‚‹ใŒใ€้™ฝๆ€ง็Ž‡ใฏใใ‚Œใปใฉ้ซ˜ใใชใ„ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บ้šœๅฎณไปฅๅค–ใซใ‚‚็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้šœๅฎณใŒๅค–ๅˆ†ๆณŒ่…บใซ้™ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚’่…บๅž‹SSใ€ๅค–ๅˆ†ๆณŒ่…บไปฅๅค–ใฎ่‡“ๅ™จใซ้šœๅฎณใŒใ‚ใ‚‹ไพ‹ใ‚’่…บๅค–ๅž‹SSใจๅ‘ผใถใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉ็จฎใ€…ใฎ่† ๅŽŸ็—…ใจๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€่† ๅŽŸ็—…ใฎๅˆไฝตใฎใชใ„ไพ‹ใ‚’ไธ€ๆฌกๆ€งSSใ€่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไพ‹ใ‚’ไบŒๆฌกๆ€งSSใจๅ‘ผใถใ€‚" @ja
dcterms:identifier2200050NANDO:2200420
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_004_01.pdf
rdfs:label - "Chondrosarcoma" + "Sjogren's syndrome" @en
rdfs:label - "่ปŸ้ชจ่‚‰่…ซ" + "ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_037/http://nanbyodata.jp/ontology/NANDO_1200279
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3012
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100152
+ skos:altLabel + "Sjogren็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "Sjรถgren's Syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008977http://purl.obolibrary.org/obo/MONDO_0010030
skos:prefLabel - "่ปŸ้ชจ่‚‰่…ซ" + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200051 +
http://nanbyodata.jp/ontology/NANDO_2200421 (rdf:type owl:Class @@ -94181,67 +146907,84 @@

hasNotificationNumber31hasNotificationNumber6
dcterms:description - "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ๏ผˆchondroblastoma๏ผ‰ใฏ๏ผŒๅฐๅ…ใฎ้•ท็ฎก้ชจ้ชจ็ซฏ้ƒจใซๅฅฝ็™บใ™ใ‚‹่ปŸ้ชจๅฝขๆˆๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚‹๏ผŽ็ต„็น”ๅญฆ็š„ใซใฏ็ ด้ชจ็ดฐ่ƒžๅž‹ๅคšๆ ธๅทจ็ดฐ่ƒžใจๅ††ๅฝขใพใŸใฏๅคš่ง’ๅฝขใฎ่ปŸ้ชจ่Šฝ็ดฐ่ƒžๆง˜็ดฐ่ƒžใงๆง‹ๆˆใ•ใ‚Œใ‚‹็ดฐ่ƒžๅฏ†ๅบฆใฎ้ซ˜ใ„ๆฏ”่ผƒ็š„ๆœชๅˆ†ๅŒ–ใช็ต„็น”ใ‚’็‰นๅพดใจใ—๏ผŒ็Ÿณ็ฐๅŒ–ๅทฃใ‚’ไผดใฃใŸ่ปŸ้ชจๆ€งใฎ้–“่ณชใ‚’ไผดใ†่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ" + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคใฏใ€ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฎๅญ˜ๅœจไธ‹ใซ่ก€ๆ “ๅ‚พๅ‘ใŒๅข—ใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏๅ‹•้™่„ˆ่ก€ๆ “็—‡ใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฏใƒชใƒณ่„‚่ณชใพใŸใฏใƒชใƒณ่„‚่ณชใจ่›‹็™ฝใฎ่ค‡ๅˆไฝ“ใซ็ตๅˆใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใฎ็ท็งฐใงใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใ‚„็”Ÿ็‰ฉๅญฆ็š„ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€่‡จๅบŠ่จบๆ–ญใซใฏๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณฮฒ2-ใ‚ฐใƒชใ‚ณใƒ—ใƒญใƒ†ใ‚คใƒณโ… ๏ผˆaPLฮฒ2GPI๏ผ‰ๆŠ—ไฝ“ใ‚‚ใ—ใใฏใƒซใƒผใƒ—ใ‚นใ‚ขใƒณใƒใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆ๏ผˆLA๏ผ‰ใฎๅญ˜ๅœจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ใ€€ๅ˜็‹ฌใง็™บ็—‡ใ—ใŸ็—‡ไพ‹ใฏๅŽŸ็™บๆ€งAPSใซใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใซไผดใ†ๅ ดๅˆใฏ็ถš็™บๆ€งAPSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚APSใฎ็‰นๆฎŠๅž‹ใจใ—ใฆใ€ๅคš่‡“ๅ™จใซๅพฎๅฐ่ก€ๆ “ใ‚’ใใŸใ—ๆ€ฅ้€Ÿใซๅคš่‡“ๅ™จไธๅ…จใซ้™ฅใ‚‹ใ€่‡ดๆญป็Ž‡ใŒ้ซ˜ใ„ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค(Catastrophic APS)ใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200051NANDO:2200421
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_005_01.pdf
rdfs:label - "Chondroblastoma" + "anti-phospholipid antibody syndrome" @en
rdfs:label - "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ" + "ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_038/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=114
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01697
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100152
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004997http://purl.obolibrary.org/obo/MONDO_0007140
skos:prefLabel - "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ" + "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200052 +
http://nanbyodata.jp/ontology/NANDO_2200422 (rdf:type owl:Class @@ -94249,62 +146992,91 @@

hasNotificationNumber3hasNotificationNumber11
dcterms:description - "้ชจๅทจ็ดฐ่ƒž่…ซ๏ผˆgiant cell tumor of bone๏ผšGCT of bone๏ผ‰ใฏ้กžๅ††ๅฝขใฎๅ˜ๆ ธ่…ซ็˜็ดฐ่ƒžใจๆ•ฃๅœจใ™ใ‚‹ๅคงๅž‹ใฎ็ ด้ชจ็ดฐ่ƒžๆง˜ๅทจ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽใพใ‚Œใซ้ชจๅทจ็ดฐ่ƒž่…ซๅ†…ใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒไฝตๅญ˜ใ—ใŸใ‚Š๏ผˆไธ€ๆฌกๆ€ง๏ผ‰๏ผŒไปฅๅ‰ๅ…ธๅž‹็š„ใช้ชจๅทจ็ดฐ่ƒž่…ซใŒๅญ˜ๅœจใ—ใŸ้ƒจไฝใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒ็™บ็”Ÿใ™ใ‚‹๏ผˆไบŒๆฌกๆ€ง๏ผ‰ใ“ใจใŒใ‚ใ‚Š๏ผŒๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใ‚‹๏ผŽๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใฎๅคง้ƒจๅˆ†ใฏไบŒๆฌกๆ€งใงใ‚ใ‚Š๏ผŒใใฎๅคšใใฏๆ”พๅฐ„็ทšๆฒป็™‚ๅพŒใซ็™บ็”Ÿใ—ใŸใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ2013ๅนด็‰ˆใฎWHOๅˆ†้กžใงใฏไธก่€…ใฏโ€œMalignancy in GCTโ€ใจ็ท็งฐใ•ใ‚ŒใŸ๏ผŽ" + "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏใ€็šฎ่†š็ฒ˜่†œ็—‡็Šถ๏ผˆๅๅพฉใ™ใ‚‹ๅฃๅ†…็‚Žใ€็šฎ่†š็—‡็Šถใ€ๅค–้™ฐ้ƒจๆฝฐ็˜๏ผ‰ใŠใ‚ˆใณ็œผ็—‡็Šถ๏ผˆใถใฉใ†่†œ็‚Ž๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€็‚Ž็—‡ใฎๅข—ๆ‚ชใจๅฏ›่งฃใ‚’ๅๅพฉใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏๆˆไบบไพ‹ใจๆฏ”่ผƒใ—ใฆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใฎๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„๏ผˆ็ด„50๏ผ…๏ผ‰ไธ€ๆ–นใงใ€็šฎ่†š็—‡็Šถ๏ผˆ็ด„60๏ผ…๏ผ‰ใƒปๅค–้™ฐ้ƒจๆฝฐ็˜๏ผˆ็ด„50๏ผ…๏ผ‰ใƒป็œผ็—‡็Šถ๏ผˆ็ด„20๏ผ…๏ผ‰ใฎๅ‡บ็พ้ ปๅบฆใŒๅฐ‘ใชใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ไธ–็•Œไธญใฎๅฐ‚้–€ๅฎถใฎๆ„่ฆ‹ใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใฎๅฎš็พฉใฏๅญ˜ๅœจใ›ใšใ€ๅ›ฝ้š›ๅŸบๆบ–๏ผˆCriteria of the International Study Group for diagnosis BD๏ผ‰ใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆˆไบบใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใ‚’ๅฏพ่ฑกใซไฝœๆˆใ•ใ‚ŒใŸ่ค‡ๆ•ฐใฎ่จบๆ–ญๅŸบๆบ–ใŒๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใงใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใ€ๅŽš็”ŸๅŠดๅƒ็œ ็‰นๅฎš็–พๆ‚ฃใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" @ja
dcterms:identifier2200052NANDO:2200422
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_006_01.pdf
rdfs:label - "Malignancy in giant cell tumour of bone" + "Behcet's disease" @en
rdfs:label - "ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ" + "ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_039/http://nanbyodata.jp/ontology/NANDO_1200284
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=165
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100152
+ skos:altLabel + "Behcet็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007191
skos:prefLabel - "ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ" + "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200053 +
http://nanbyodata.jp/ontology/NANDO_2200423 (rdf:type owl:Class @@ -94312,79 +147084,110 @@

hasNotificationNumber41hasNotificationNumber4
dcterms:description - "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžๅŠใณ่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‹ญ็ช„ใ€้–‰ๅกžๅˆใฏๆ‹กๅผต็—…ๅค‰ใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ๅ…จ่บซ็—‡็Šถใ€็‹ญ็ช„ใชใ„ใ—้–‰ๅกžใ‚’ใใŸใ—ใŸๅ‹•่„ˆใฎ่ก€ๆต้šœๅฎณใซใ‚ˆใ‚‹ๅ„็จฎ่‡“ๅ™จ้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏๆ‹กๅผตใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใชใฉใŒ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ้ƒจไฝใ‚„ๅบƒใŒใ‚Šใซใ‚ˆใฃใฆ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ใ€่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌง็ฑณใงใฏ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไธŠ่‚ข่ก€็ฎกใฎ่„ˆๆ‹ๆฌ ๆใ‚’ไผดใ†ใ“ใจใ‹ใ‚‰ใ€่„ˆใชใ—็—…ใจๅ‘ผใฐใ‚ŒใŸใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใซใฏไบบ็จฎๅทฎใ‚„ๅœฐๅŸŸๅทฎใŒใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็œใฎ็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญใฎๅฏพ่ฑก็–พๆ‚ฃใฎไธ€ใคใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200053NANDO:2200423
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_007_01.pdf
rdfs:label - "Ewing's sarcoma" + "Takayasu arteritis" @en
rdfs:label - "ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ" + "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00035http://nanbyodata.jp/ontology/NANDO_1200251
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_040/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100153
skos:altLabel - "Ewing่‚‰่…ซ" + "Aortitis syndrome" + @en
+ skos:altLabel + "Takayasu's arteritis" + @en
+ skos:altLabel + "ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012817http://purl.obolibrary.org/obo/MONDO_0006656
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ" + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200054 +
http://nanbyodata.jp/ontology/NANDO_2200424 (rdf:type owl:Class @@ -94392,62 +147195,91 @@

hasNotificationNumber36hasNotificationNumber5
dcterms:description - "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" + "Wegener่‚‰่Šฝ่…ซ็—‡ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซๅ…จ่บซใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€งๅค‰ๅŒ–ใ‚’่ชใ‚ใ€็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCAใŒ้–ขไธŽใ™ใ‚‹ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚International Chapel Hill Consensus Conferenceใฎ2012ๅนดๆ”น่จ‚ใงใ€ๅพ“ๆฅใฎWegener่‚‰่Šฝ่…ซ็—‡ใจใ„ใ†ๅ‘ผใณๅใ‹ใ‚‰granulomatosis with polyangitis GPAใซๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚ANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใฎไธ€็–พๆ‚ฃใซๅŒบๅˆ†ใ•ใ‚Œใ€ไธŠไธ‹ๆฐ—้“ใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ใŠใ‚ˆใณๅฐใ‹ใ‚‰ไธญ่ก€็ฎกใ‚’ไธปใซไพตใ™ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’ๆฅใŸใ—ใ€้ซ˜้ ปๅบฆใซๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ‚‚ใฎใจๅ†ๅฎš็พฉใ•ใ‚ŒใŸใ€‚GPAใฏๅ…ƒๆฅใ€็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ใ—ใ‹ใ—ๅฃฐ้–€ไธ‹็‹ญ็ช„ใซไผดใ†ๅ‘ผๅธไธๅ…จใชใฉๆ•‘ๆ€ฅ็–พๆ‚ฃใจใ—ใฆใฎๆ€งๆ ผใ‚„ใ€่‡“ๅ™จๅพŒ้บ็—‡ใจใ—ใฆใฎ่…Žไธๅ…จใฎๅญ˜ๅœจใฏใ€ๅ˜ใชใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจใ—ใฆใฎใฟใงๆ‰ใˆใ‚‹ในใใงใฏใชใ„ใ“ใจใ‚’ๆ„ๅ‘ณใ—ใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ไธปไฝ“ใจใ—ใŸๅ…จ่บซๆ€ง็–พๆ‚ฃใจใ—ใฆใฎ็ฎก็†ใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200054NANDO:2200424
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_008_01.pdf
rdfs:label - "primitive neuroectodermal tumors" + "Granulomatosis with polyangiitis" @en
rdfs:label - "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_041/http://nanbyodata.jp/ontology/NANDO_1200263
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9435
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100153
+ skos:altLabel + "GPA" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012105
skos:prefLabel - "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200055 +
http://nanbyodata.jp/ontology/NANDO_2200425 (rdf:type owl:Class @@ -94455,55 +147287,83 @@

hasNotificationNumber36hasNotificationNumber1
+ dcterms:description + "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Žใฏไธญๅž‹่ก€็ฎก็‚Žใซๅˆ†้กžใ•ใ‚Œใ€ไธญใƒปๅฐๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹ใŒใ€็ดฐๅ‹•่„ˆใ‚„ๆฏ›็ดฐ่ก€็ฎกใซใฏ่ก€็ฎก็‚Žใ‚’่ชใ‚ใชใ„ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็ดฐๅ‹•่„ˆไปฅไธ‹ใฎๅฐๅž‹่ก€็ฎกใŒไธปใช็ฝนๆ‚ฃ่ก€็ฎกใงใ‚ใ‚‹้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใจใฏใ€็—…ๆ…‹ใƒป็—‡็Šถใƒป็—…็†็ต„็น”ๆ‰€่ฆ‹ใƒปๆคœๆŸปๆ‰€่ฆ‹ใƒปไบˆๅพŒใชใฉใŒๆ˜Ž็ขบใซ็•ฐใชใ‚‹ใ€‚ANCAใŒ้™ฝๆ€งใซใชใ‚‹ใ“ใจใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200055NANDO:2200425
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_009_01.pdf
rdfs:label - "Peripheral primitive neuroectodermal tumors" + "Polyangiitis nodosa" @en
rdfs:label - "ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "ใ‘ใฃใ›ใคใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_041/https://www.shouman.jp/disease/details/06_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200054http://nanbyodata.jp/ontology/NANDO_2100153
+ skos:altLabel + "PN" + @en
+ skos:altLabel + "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž" + @ja
skos:prefLabel - "ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200056 +
http://nanbyodata.jp/ontology/NANDO_2200426 (rdf:type owl:Class @@ -94511,72 +147371,86 @@

hasNotificationNumber6hasNotificationNumber2
dcterms:description - "ๅฐ†ๆฅ้ชจๆ ผ็ญ‹ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ‚ชๆ€ง่ปขๅŒ–ๅพŒใซ้ชจๆ ผ็ญ‹ๅˆ†ๅŒ–่ƒฝใ‚’็™บ็พใ—ใŸ่ƒŽๅ…ใฎไธญ่ƒš่‘‰ใพใŸใฏ้–“่‘‰็ต„็น”ใซ็”ฑๆฅใ™ใ‚‹ใ€้ชจๆ ผ็ญ‹ใฎๅฝข่ณชใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚ŽMPAใฏใ€1994ๅนดใฎInternational Chapel Hill Consensus Conferenceใงใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽPANใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅ‹•้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใจใ—ใฆๆ–ฐใŸใซๅˆ†้กžใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใ‚’ใปใจใ‚“ใฉ่ชใ‚ใšใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCA้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ€ๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็—…ๆ…‹ใ‚„่‡จๅบŠ็—…ๅž‹ใซ็€็›ฎใ—ใŸ2012ๅนดๆ”น่จ‚ๅˆ†้กžใงใฏใ€Wegener่‚‰่Šฝ่…ซ็—‡๏ผๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡GPAใŠใ‚ˆใณChurg-Strauss็—‡ๅ€™็พค๏ผๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡EGPAใจใจใ‚‚ใซANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใซๅŒบๅˆ†ใ•ใ‚ŒใŸANCA้–ข้€ฃ่ก€็ฎก็‚Žใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ANCAใฎๅฏพๅฟœๆŠ—ๅŽŸใฏGPAใจ็•ฐใชใ‚ŠใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผMPOใŒๅคšใใ€็‰นใซๆœฌ้‚ฆใฎMPAไพ‹ใฎMPO-ANCAใฎ้™ฝๆ€ง็Ž‡ใฏ9ๅ‰ฒใ‚’่ถ…ใˆใ‚‹ใ€‚MPA ใฏ่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„็‚นใงGPAใ€EGPAใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200056NANDO:2200426
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_010_01.pdf
rdfs:label - "Rhabdomyosarcoma" + "Microscopic polyangiitis" @en
rdfs:label - "ๆจช็ด‹็ญ‹่‚‰่…ซ" + "ใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00037http://nanbyodata.jp/ontology/NANDO_1200262
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_042/https://www.shouman.jp/disease/details/06_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100153
+ skos:altLabel + "MPA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005212http://purl.obolibrary.org/obo/MONDO_0019124
skos:prefLabel - "ๆจช็ด‹็ญ‹่‚‰่…ซ" + "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200057 +
http://nanbyodata.jp/ontology/NANDO_2200427 (rdf:type owl:Class @@ -94584,67 +147458,86 @@

hasNotificationNumber4hasNotificationNumber3
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏไธปใซ่…Žใ€่‚ใ€่ปŸ้ƒจ็ต„็น”ใ€ไธญๆžข็ฅž็ตŒใชใฉไฝ“ใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใจ่…Žใชใฉ่ค‡ๆ•ฐใซๅŒๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใ„ใฃใŸ็—…ๆ…‹ใซใคใ„ใฆใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚1978ๅนดใซBeckwithใ‚‰ใซใ‚ˆใฃใฆใ€ๅฐๅ…่…Ž่…ซ็˜ใฎไธญใงไบˆๅพŒไธ่‰ฏๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œmalignant rhabdoid tumor of the kidneyใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€ๆ—ฅๆœฌใงใฏๆ‚ชๆ€งๆจช็ด‹็ญ‹่‚‰่…ซๆง˜่…ซ็˜ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ•ใ‚Œใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€้กžๅ††ๅฝขใฎ่…ซๅคงใ—ใŸๆ ธใจ็ดฐ่ƒž่ณชใซๅฅฝ้…ธๆ€ง็ดฐ่ƒž่ณชๅฐๅ…ฅไฝ“ใ‚’ๆœ‰ใ™ใ‚‹ๅ††ๅฝขใฎ ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰็ดฐ่ƒžใŒ็‰นๅพดใงใ€ๅฅฝ้…ธๆ€งๅฐๅ…ฅไฝ“ใฏ็›ดๅพ„ 10nm ใฎไธญ้–“ๅพ„ใƒ•ใ‚ฃใƒฉใƒกใƒณใƒˆใฎใ‹ใ‚‰ใชใฃใฆใ„ใ‚‹ใ€‚1982ๅนดใซGonzalez-Crussiใ‚‰ใซใ‚ˆใฃใฆ่‚ใ‚„่ปŸ้ƒจ็ต„็น”ใชใฉ่…Žๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใคใ„ใง1987ๅนดใซBiggsใ‚‰ใซใ‚ˆใฃใฆไธญๆžข็ฅž็ตŒใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใŒใ€Atypical teratoid/rhabdoid tumor (AT/RT) ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซRorkeใ‚‰ใซใ‚ˆใฃใฆAT/RTใฏ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚1998ๅนดใซVersteegeใ‚‰ใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใซใŠใ„ใฆ22q11.23ไธŠใซๅญ˜ๅœจใ™ใ‚‹hSNF5/INI-1้บไผๅญใฎๅค‰็•ฐใ‚’ๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒใฎsnf5/ini1ใƒŽใƒƒใ‚ฏใ‚ขใ‚ฆใƒˆใƒžใ‚ฆใ‚นใซใŠใ„ใฆใƒžใ‚ฆใ‚นใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็”ŸใŒๅ ฑๅ‘Šใ•ใ‚Œใ€hSNF5/INI-1้บไผๅญใฏ็™ŒๆŠ‘ๅˆถ้บไผๅญใจใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฎๆฌ ๅคฑใƒปๅค‰็•ฐใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€hSNF5/INI-1้บไผๅญใฎ็•ฐๅธธใฏ่…ซ็˜ใฎใฟใชใ‚‰ใšใ€็ด„30๏ผ…็จ‹ๅบฆใฎ็—‡ไพ‹ใงgermlineใงใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใใฎไธ€้ƒจใซๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒๅ…ˆ่กŒใ—ใ€ใใฎๅพŒๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ็™บ็—‡ใ™ใ‚‹ไธญๅฐๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅ‘จๅ›ฒใธใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚„ใ€ๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’ไผดใ†่ก€็ฎกๅค–่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใŒๅ…จ่บซใฎ็ตๅˆ็ต„็น”้–“่ณชใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไปฅๅ‰ใฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žallergic granulomatous angiitis (AGA)ใ€ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พคChurg-Strauss syndrome (CSS)ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚" @ja
dcterms:identifier2200057NANDO:2200427
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_011_01.pdf
rdfs:label - "Malignant rhabdoid tumour" + "Eosinophilic granulomatosis with polyangiitis" @en
rdfs:label - "ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_043/http://nanbyodata.jp/ontology/NANDO_1200264
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100153
+ skos:altLabel + "EGPA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002728http://purl.obolibrary.org/obo/MONDO_0015943
skos:prefLabel - "ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" + "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200058 +
http://nanbyodata.jp/ontology/NANDO_2200428 (rdf:type owl:Class @@ -94652,67 +147545,79 @@

hasNotificationNumber37hasNotificationNumber12
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆRelapsing Polychondritis: RP๏ผ‰ใฏใ€่€ณไป‹ใ€้ผปใ€ๅ–‰้ ญๆฐ—็ฎก่ปŸ้ชจใชใฉใซ็”Ÿใ˜ใ‚‹ๅ†็™บๆ€งใ‹ใค้€ฒ่กŒๆ€งใฎ่ปŸ้ชจ็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถไปฅๅค–ใซใ€้–ข็ฏ€็‚Žใ€็œผ็—…ๅค‰ใ€ๅฟƒ่ก€็ฎก็—…ๅค‰ใชใฉใ‚’ๅ‘ˆใ—ใ€ไป–ใฎใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใชใ‹ใงใ‚‚ใ€ๅ–‰้ ญๆฐ—็ฎก็—…ๅค‰ใฏไธปใชๆญปๅ› ใจใชใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใจๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฎ†ใฉใฎๆ‚ฃ่€…ใฏไธญๅนดๆœŸไปฅ้™ใฎๆˆไบบใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ใฎๅ ฑๅ‘Šใ‚‚็จ€ใซใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200058NANDO:2200428
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_03_012_01.pdf
rdfs:label - "Undifferentiated sarcoma" + "Relapsing Polychondritis" @en
rdfs:label - "ๆœชๅˆ†ๅŒ–่‚‰่…ซ" + "ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_044/http://nanbyodata.jp/ontology/NANDO_1200283
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_03_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100154
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005102http://purl.obolibrary.org/obo/MONDO_0019125
skos:prefLabel - "ๆœชๅˆ†ๅŒ–่‚‰่…ซ" + "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200059 +
http://nanbyodata.jp/ontology/NANDO_2200429 (rdf:type owl:Class @@ -94720,67 +147625,86 @@

hasNotificationNumber26hasNotificationNumber23
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๅผท็šฎ็—‡ใฏ็šฎ่†š็กฌๅŒ–ใ‚’ใฏใ˜ใ‚ใจใ—ใŸๅ…จ่บซ่‡“ๅ™จใฎ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ (SSc)ใฏใ€็šฎ่†š็—‡็Šถใฎไป–ใซ่‚บ็ทš็ถญ็—‡ใƒป่‚บ้ซ˜่ก€ๅœง็—‡ใ‚„่…Ž้šœๅฎณใ€ๆถˆๅŒ–ๅ™จ้šœๅฎณใชใฉๅ…จ่บซ่‡“ๅ™จใฎๅˆไฝต็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆ็•ฐใชใ‚Šๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ2ใคใซๅˆ†ใ‘ใ‚‹LeRoyใ‚‰ใฎๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใฏ่‡จๅบŠ็—‡็Šถใ‹ใ‚‰็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใ‚ˆใ‚Šไฝ“ๅนนๅดใซ้€ฒๅฑ•ใ™ใ‚‹โ€œdiffuse cutaneous SSc (d-SSc)โ€ใ€็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใพใงใฎๆœซๆขขๅดใซ้™ๅฑ€ใ™ใ‚‹โ€limited cutaneous SSc (l-SSc)โ€œใฎ๏ผ’็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200059NANDO:2200429
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_04_013_01.pdf
rdfs:label - "Dermatofibrosarcoma protuberans" + "Systemic sclerosis" @en
rdfs:label - "็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜" + "ใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…จ่บซๆ€งๅผท็šฎ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_045/http://nanbyodata.jp/ontology/NANDO_1200277
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_04_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100155
+ skos:altLabel + "SSc" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011934http://purl.obolibrary.org/obo/MONDO_0005100
skos:prefLabel - "็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜" + "ๅ…จ่บซๆ€งๅผท็šฎ็—‡" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200060 +
http://nanbyodata.jp/ontology/NANDO_2200430 (rdf:type owl:Class @@ -94788,77 +147712,86 @@

hasNotificationNumber27hasNotificationNumber24
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…(mixed connective tissue disease๏ผšMCTD)ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰๏ผŒๅคš็™บ็ญ‹็‚Ž๏ผˆPM๏ผ‰๏ผŒๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSSc๏ผ‰ๆง˜ๆ‰€่ฆ‹ใฎๆททๅœจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใงใฏใ€SLEใƒปPMใƒปSScใใ‚Œใžใ‚Œใฎ่‡จๅบŠๆ‰€่ฆ‹ใŒๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใซๆŠ—U1-RNP (ribonucleoprotein)ๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใฎๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…ใงใฏSLEใƒปPMใƒปSScใฎ๏ผ“ใคๆ‰€่ฆ‹ใ‚’ๅ…จใฆ่ชใ‚ใ‚‹ใ“ใจใฏๅฐ‘ใชใใ€SLEๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒ้ซ˜ใใ€PMใƒปSScๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒๅฐ‘ใชใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200060NANDO:2200430
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_04_014_01.pdf
rdfs:label - "Fibrosarcoma" + "mixed connective tissue disease" @en
rdfs:label - "็ทš็ถญ่‚‰่…ซ" + "ใ“ใ‚“ใ”ใ†ใ›ใ„ใ‘ใคใ”ใ†ใใ—ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_046/http://nanbyodata.jp/ontology/NANDO_1200278
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_04_014/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002676 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100155
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002678 + skos:altLabel + "MCTD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005164http://purl.obolibrary.org/obo/MONDO_0005854
skos:prefLabel - "็ทš็ถญ่‚‰่…ซ" + "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200061 +
http://nanbyodata.jp/ontology/NANDO_2200431 (rdf:type owl:Class @@ -94866,72 +147799,79 @@

hasNotificationNumber8hasNotificationNumber14
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever: FMF๏ผ‰ใฏใ€ๆผฟ่†œ็‚Žใชใฉใ‚’ๅๅพฉใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ๏ผˆautoinflammatory diseases๏ผ‰ใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใจ้žๅ…ธๅž‹ไพ‹๏ผˆไธๅฎŒๅ…จๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏใ€ๆœˆใซ๏ผ‘ๅ›žใปใฉใฎ็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚็™บ็†ฑๆœŸ้–“ใฏ72ๆ™‚้–“ไปฅๅ†…ใงใ€็™บ็†ฑใซไผดใฃใฆๆฟ€ใ—ใ„่…น็—›ใ‹่ƒธ่ƒŒ้ƒจ็—›ใ‚’่จดใˆใ€้–ข็ฏ€็‚Žใฎไฝต็™บใฏไธ‹่‚ขใฎๅคง้–ข็ฏ€ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚้žๅ…ธๅž‹ไพ‹ใฏ็™บ็†ฑๆœŸ้–“ใŒๆ•ฐ้€ฑ้–“ใจ้•ทใใ€ใ•ใพใ–ใพใช้šไผด็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้–ข็ฏ€็‚Žใฎๅˆไฝตใฏ่‚˜้–ข็ฏ€ใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็†ฑๆ™‚ใซใฏใ€CRPใฏ10 mg/mlไปฅไธŠใจ้ซ˜ๅ€คใซใชใ‚‹ใ“ใจใŒๅคšใใ€็™บไฝœ้–“ๆฌ ๆœŸใซใฏๆญฃๅธธๅŒ–ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€็‚Ž็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹ๅˆ†ๅญ็พคใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฎไธญใงไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€่ฒฌไปป้บไผๅญMEFV (่›‹็™ฝใฏpyrin) ใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MEFV exon 10ๅค‰็•ฐ(M694Iใชใฉ)ใฏๅ…ธๅž‹ไพ‹ใซๅคšใใ€้žๅ…ธๅž‹ไพ‹ใงใฏexon 3ใฎP369S-R408Qๅค‰็•ฐใŒๆคœๅ‡บใ•ใ‚Œใ‚„ใ™ใ„ใ€‚ๆฒป็™‚ใฏใ„ใšใ‚Œใฎๅž‹ใ‚‚ๅฅฝไธญ็ƒๆฉŸ่ƒฝใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ‚ณใƒซใƒ’ใƒใƒณใŒๅคงๅคšๆ•ฐไพ‹ใงๅฅๅŠนใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200061NANDO:2200431
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_015_01.pdf
rdfs:label - "Synovial sarcoma" + "Familial Mediterranean fever" @en
rdfs:label - "ๆป‘่†œ่‚‰่…ซ" + "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใค" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00050http://nanbyodata.jp/ontology/NANDO_1200863
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_047/https://www.shouman.jp/disease/details/06_05_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010434http://purl.obolibrary.org/obo/MONDO_0018088
skos:prefLabel - "ๆป‘่†œ่‚‰่…ซ" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200062 +
http://nanbyodata.jp/ontology/NANDO_2200432 (rdf:type owl:Class @@ -94939,72 +147879,93 @@

hasNotificationNumber39hasNotificationNumber16
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "NLRP3้บไผๅญ(่›‹็™ฝๅ๏ผšcryopyrin๏ผŒใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณIL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚Šใ€ๅ‘จๆœŸๆ€งๆˆ–ใ„ใฏๆŒ็ถšๆ€งใซๅ…จ่บซใฎ็‚Ž็—‡ใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200062NANDO:2200432
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_016_01.pdf
rdfs:label - "Clear cell sarcoma" + "Cryopyrin-associated periodic syndrome" @en
rdfs:label - "ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + "ใใ‚ŠใŠใดใ‚Šใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใญใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00052http://nanbyodata.jp/ontology/NANDO_1200465
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_048/https://www.shouman.jp/disease/details/06_05_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
+ skos:altLabel + "Cryopyrin associated periodic fever syndrome" + @en
+ skos:altLabel + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002926http://purl.obolibrary.org/obo/MONDO_0016168
skos:prefLabel - "ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ" + "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200063 +
http://nanbyodata.jp/ontology/NANDO_2200433 (rdf:type owl:Class @@ -95012,72 +147973,91 @@

hasNotificationNumber35hasNotificationNumber18
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "้บไผๆ€งใฎๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็ญ‹่‚‰็—›ใ‚„็šฎ็–นใ‚’ไผดใ†ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰/ใ‚นใ‚ณใƒƒใƒˆใƒฉใƒณใƒ‰ใฎไธ€ๅฎถ็ณปใฎๅ ฑๅ‘Š(1982ๅนด)ใซๅง‹ใพใ‚Šใ€1999ๅนดใซโ… ๅž‹TNFๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€TRAPS(TNF receptor-associated periodic fever syndrome)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚" @ja
dcterms:identifier2200063NANDO:2200433
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_017_01.pdf
rdfs:label - "Alveolar soft part sarcoma" + "TNF receptor-associated periodic fever syndrome" @en
rdfs:label - "่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ" + "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใฆใƒใƒผใˆใฌใˆใตใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00051http://nanbyodata.jp/ontology/NANDO_1200472
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=723
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
+ skos:altLabel + "TRAPS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011655http://purl.obolibrary.org/obo/MONDO_0007727
skos:prefLabel - "่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ" + "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200064 +
http://nanbyodata.jp/ontology/NANDO_2200434 (rdf:type owl:Class @@ -95085,67 +148065,105 @@

hasNotificationNumber34hasNotificationNumber20
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ไธปใจใ—ใฆ4ๆญณไปฅไธ‹ใฎๅฐๅ…ใซ็™บ็—‡ใ—ใ€้–ข็ฏ€็‚Žใƒปใถใฉใ†่†œ็‚Žใƒป็šฎ่†š็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏใ€ๆญดๅฒ็š„ใซ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น(Early-onset sarcoidosis; EOS, MIM#609464)ใจๅ‘ผใฐใ‚ŒใฆใใŸใ€‚ไธ€ๆ–นใ€1985ๅนดใ€EOSใจ้…ทไผผใ™ใ‚‹่‡จๅบŠๅƒใ‚’4ไธ–ไปฃใซๆธกใฃใฆๅ‘ˆใ™ใ‚‹ๅฎถ็ณปไพ‹ใŒBlauใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใฎ็–พๆ‚ฃใฏBlau็—‡ๅ€™็พค(MIM#186580)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚2001ๅนดใ€Blau็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆNOD2ใŒๅŒๅฎšใ•ใ‚Œใ€2005ๅนดใ€ๆœฌ้‚ฆEOS10ไพ‹ใฎ้บไผๅญ่งฃๆžใ‚ˆใ‚ŠEOSใซใŠใ„ใฆใ‚‚NOD2ใŒใใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒ้‡‘ๆพคใ‚‰ใซใ‚ˆใ‚Š่จผๆ˜Žใ•ใ‚ŒใŸใ€‚ไปŠๆ—ฅใงใฏใ€ไธก่€…ใฏๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€EOSใฏBlau็—‡ๅ€™็พคใฎๅญค็™บไพ‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚" @ja
dcterms:identifier2200064NANDO:2200434
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_050_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_018_01.pdf
rdfs:label - "Leiomyosarcoma" + "Blau syndrome, early onset sarcoidosis" @en
rdfs:label - "ๅนณๆป‘็ญ‹่‚‰่…ซ" + "ใถใ‚‰ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_050/http://nanbyodata.jp/ontology/NANDO_1200476
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1501
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
+ skos:altLabel + "Blau็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "Early onset sarcoidosis" + @en
+ skos:altLabel + "่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005058http://purl.obolibrary.org/obo/MONDO_0008523
skos:prefLabel - "ๅนณๆป‘็ญ‹่‚‰่…ซ" + "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200065 +
http://nanbyodata.jp/ontology/NANDO_2200435 (rdf:type owl:Class @@ -95153,77 +148171,93 @@

hasNotificationNumber17hasNotificationNumber19
dcterms:description - "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๅนผๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใ€็™บ็†ฑใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‡็˜กๆง˜็šฎ็–น็™บ็—‡ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ€่„‚่‚ช็ต„็น”็‚Žใ‚’่ชใ‚ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค(Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome :CANDLE Syndrome), ใ‚ใ‚‹ใ„ใฏ้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž๏ผˆJoint contractures, Muscle atrophy, Microcytic Anemia, and Panniculitis Induced Lipodystrophy:JMP)ใจๅŒไธ€็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ใ‚’ๆง‹ๆˆใ™ใ‚‹20Sๆง‹ๆˆๅ› ๅญใฎไธญใฎPSMB8ใŒๅŒๅฎšใ•ใ‚Œใ€ใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–่›‹็™ฝ่ณชใŒ่“„็ฉใŒๆœฌ็—‡ใฎ็™บ็—‡ใซ้–ขใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณ่–ฌใŒๅฅๅŠŸใ›ใšใ€ไป–ใซๆœ‰ๅŠนใช่–ฌๅ‰คใŒใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200065NANDO:2200435
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_019_01.pdf
rdfs:label - "Liposarcoma" + "Nakajo-Nishimura syndrome" @en
rdfs:label - "่„‚่‚ช่‚‰่…ซ" + "ใชใ‹ใ˜ใ‚‡ใ†ใƒปใซใ—ใ‚€ใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_051/http://nanbyodata.jp/ontology/NANDO_1200867
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003585 + skos:altLabel + "่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค" + @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003587 + skos:altLabel + "้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005060http://purl.obolibrary.org/obo/MONDO_0009726
skos:prefLabel - "่„‚่‚ช่‚‰่…ซ" + "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200066 +
http://nanbyodata.jp/ontology/NANDO_2200436 (rdf:type owl:Class @@ -95231,72 +148265,103 @@

hasNotificationNumber38hasNotificationNumber17
dcterms:description - "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎไปฃ่ฌ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€่‡จๅบŠ็š„็‰นๅพดใจใ—ใฆไนณๅ…ๆœŸใ‚ˆใ‚Š็™บ็—‡ใ—่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฎ‹ๅญ˜MKๆดปๆ€งใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๅฅ‡ๅฝขใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใฎ้‡ใ„็—‡็Šถใ‚’ไผดใ†ใƒกใƒใƒญใƒณ้…ธๅฐฟ็—‡ ((้…ต็ด ๆดปๆ€ง 1 %ๆœชๆบ€) ใจใ€ใ‚ใšใ‹ใซ้…ต็ด ๆดปๆ€งใŒๆฎ‹ๅญ˜ใ™ใ‚‹้ซ˜IgD็—‡ๅ€™็พค๏ผˆๅŒ1-10 %๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚1984ๅนดใซใ‚ชใƒฉใƒณใƒ€ไบบใฎๅฎถ็ณปใงๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFMF๏ผ‰ใจใ‚ˆใไผผใŸ่‡จๅบŠๅƒใ‚’็คบใ—ใชใŒใ‚‰ใ‚‚ใ€่ก€ๆธ…IgD้ซ˜ๅ€คใ‚„ใ€็™บไฝœๆ™‚ใฎใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€ไธ‹็—ขใชใฉใ„ใใคใ‹ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฎ้•ใ„ใ‹ใ‚‰ใ€FMFใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚ŒใŸใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนด่จบๆ–ญใ•ใ‚ŒใŸๆœฌ้‚ฆใงใฎ็—‡ไพ‹ใฏใ€ๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200066NANDO:2200436
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_020_01.pdf
rdfs:label - "Dysgerminoma" + "hyper IgD syndrome" @en
rdfs:label - "ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ" + "ใ“ใ†ใ‚ใ„ใ˜ใƒผใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜IgD็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_052/http://nanbyodata.jp/ontology/NANDO_1200866
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2832
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
+ skos:altLabel + "mevalonate kinase deficiency" + @en
+ skos:altLabel + "ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003002http://purl.obolibrary.org/obo/MONDO_0009849
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003481http://purl.obolibrary.org/obo/MONDO_0017708
skos:prefLabel - "ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ" + "้ซ˜IgD็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200067 +
http://nanbyodata.jp/ontology/NANDO_2200437 (rdf:type owl:Class @@ -95304,77 +148369,108 @@

hasNotificationNumber28hasNotificationNumber15
dcterms:description - "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + "1997ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹็จ€ใช่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็„ก่Œๆ€งๅŒ–่†ฟๆ€ง้–ข็ฏ€็‚Žใ‚’่‡จๅบŠๅƒใฎไธปไฝ“ใจใ—ใ€ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใจๅ›Š่…ซๆ€งๅบง็˜กใ‚’ไผดใ†ไบ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200067NANDO:2200437
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_053_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_021_01.pdf
rdfs:label - "Embryonal carcinoma" + "pyogenic arthritis, pyoderma gangrenosum, acne syndrome" @en
rdfs:label - "่ƒŽๅ…ๆ€ง็™Œ" + "ใ‹ใฎใ†ใ›ใ„ใ‚€ใใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ใƒปใˆใใ›ใ„ใฎใ†ใฒใ—ใ‚‡ใ†ใƒปใ‚ใใญใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_053/http://nanbyodata.jp/ontology/NANDO_1200868
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4263
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
+ skos:altLabel + "PAPA syndrome" + @en
+ skos:altLabel + "PAPA็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003581http://purl.obolibrary.org/obo/MONDO_0004471
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005440http://purl.obolibrary.org/obo/MONDO_0011462
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018843http://purl.obolibrary.org/obo/MONDO_0018824
skos:prefLabel - "่ƒŽๅ…ๆ€ง็™Œ" + "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200068 +
http://nanbyodata.jp/ontology/NANDO_2200438 (rdf:type owl:Class @@ -95382,72 +148478,84 @@

hasNotificationNumber30hasNotificationNumber21
dcterms:description - "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏ10ๆญณๅ‰ๅพŒใฎๅฐๅ…ใซๅฅฝ็™บใ™ใ‚‹้ชจใƒป้ชจ้ซ„ใฎ็„ก่Œๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€็–ผ็—›ใ‚’ไผดใ†้ชจ้ซ„็‚ŽใŒๅคš็™บใ—ใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŽŒ่น ่†ฟ็–ฑ็—‡ใ‚„ๅฐ‹ๅธธๆ€งไนพ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€SAPHO็—‡ๅ€™็พคใ‚‚้กžไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆ—ฉๆœŸ(2ๆญณๆœชๆบ€)ใซๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ‚’็™บ็—‡ใ—ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(ไฝŽ่‰ฒ็ด ๆ€งใ€ๅฐ็ƒๆ€ง่ฒง่ก€)ๅŠใณSweet็—‡ๅ€™็พคใชใฉใฎ็šฎ่†š็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใ‚’Majeed็—‡ๅ€™็พคใจๅ‘ผใถใ€‚Majeed็—‡ๅ€™็พคใฏLPIN2้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200068NANDO:2200438
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_054_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_022_01.pdf
rdfs:label - "Polyembryoma" + "chronic recurrent multifocal osteomyelitis" @en
rdfs:label - "ๅคš่ƒŽ่Šฝ่…ซ" + "ใพใ‚“ใ›ใ„ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใ›ใ„ใ“ใคใšใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_054/http://nanbyodata.jp/ontology/NANDO_1200869
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2798
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003989 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_022/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100156
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015863http://purl.obolibrary.org/obo/MONDO_0009813
skos:prefLabel - "ๅคš่ƒŽ่Šฝ่…ซ" + "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200069 +
http://nanbyodata.jp/ontology/NANDO_2200439 (rdf:type owl:Class @@ -95455,69 +148563,79 @@

hasNotificationNumber42hasNotificationNumber13
dcterms:description - "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹IL-1ใจโ… ๅž‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใซๅฏพใ—ใฆ็ซถๅˆ้˜ปๅฎณใ™ใ‚‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆใฎๆฌ ๆใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑ็—‡ใƒป้ชจ้ซ„็‚Žใƒป้ชจ่†œ็‚ŽใŒไธป็—‡็Šถใจใชใ‚‹ใ€‚" @ja
dcterms:identifier2200069NANDO:2200439
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label - "Yolk sac tumour" + "deficiency of the interleukin-1-receptor antagonist" @en
rdfs:label - "ๅต้ป„ๅšข่…ซ" + "ใ„ใ‚“ใŸใƒผใ‚ใ„ใใ‚“1ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใใฃใ“ใ†ใถใ‚“ใ—ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_055/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7241
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2100156
- skos:altLabel - "ๅต้ป„ๅšข่…ซ็˜" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013021
skos:prefLabel - "ๅต้ป„ๅšข่…ซ" + "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "15ใ‹ใ‚‰23ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200070 +
http://nanbyodata.jp/ontology/NANDO_2200440 (rdf:type owl:Class @@ -95525,82 +148643,62 @@

hasNotificationNumber18
- dcterms:description - "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" - @jahasNotificationNumber22
dcterms:identifier2200070NANDO:2200440
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Choriocarcinoma" - @en
rdfs:label - "็ตจๆฏ›็™Œ" + "15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00028 + rdfs:label + "Other autoinflammatory diseases" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_056/https://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003508
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004491
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005207http://nanbyodata.jp/ontology/NANDO_2100156
skos:prefLabel - "็ตจๆฏ›็™Œ" + "15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" @ja
- - + - - + + - + - + + + + + + "ใˆใƒผใงใƒใƒผใˆใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200071 +
http://nanbyodata.jp/ontology/NANDO_2200441 (rdf:type owl:Class @@ -95608,67 +148706,74 @@

hasNotificationNumber16hasNotificationNumber22
dcterms:description - "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CECR1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ADA2้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹/ๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™็™บ็†ฑใ€่”“็Šถ็šฎๆ–‘ใ‚„ใƒฌใ‚คใƒŽใƒผ็—‡็Šถ็ญ‰ใฎ็šฎ่†š็—‡็Šถใ€้บป็—บใ‚„็—บใ‚Œใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ€็œผ็—‡็Šถ๏ผˆไธญๅฟƒ้™่„ˆ้–‰ๅกžใ‚„่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็ฌฌ3่„ณ็ฅž็ตŒ้บป็—บใชใฉ๏ผ‰ใชใฉใ‚’ไธป็—‡็Šถใจใ—ใ€่ก€็ฎก็‚Žใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹้บไผๆ€งใฎ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žๆง˜็–พๆ‚ฃใจใ—ใฆ2014ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็™ฝ่ก€็ƒๆธ›ๅฐ‘ใ‚„่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃๆง˜็—‡็Šถใชใฉใ€ๅคšๅฝฉใช่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚ๅˆใ€ๅคšใใฎ็—‡ไพ‹ใฏๅญฆ็ซฅๆœŸใพใงใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅŒใ˜ๅค‰็•ฐใ‚’ๆŒใคๆ‚ฃ่€…ๅŒๅฃซใ€ใ•ใ‚‰ใซใฏๅŒใ˜ๅฎถ็ณปๅ†…ใฎๆ‚ฃ่€…ๅŒๅฃซใงใ‚‚็—‡็Šถใ‚„็™บ็—‡ๅนด้ฝขใซๅคงใใชๅทฎใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200071NANDO:2200441
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_057_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Mixed germ cell tumour" + "ADA2ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Adenosine deaminase 2 deficiency" @en
rdfs:label - "ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_057/http://nanbyodata.jp/ontology/NANDO_1200995
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015864 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200440
skos:prefLabel - "ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜" + "ADA2ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200072 +
http://nanbyodata.jp/ontology/NANDO_2200442 (rdf:type owl:Class @@ -95676,62 +148781,91 @@

hasNotificationNumber25hasNotificationNumber22
dcterms:description - "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅๅพฉๆ€งใฎๆฐด็–ฑ็—‡ใ€้–“่ณชๆ€ง่‚บ็‚Žใ€้–ข็ฏ€็‚Žใ€็‚Ž็—‡ๆ€ง็œผ็–พๆ‚ฃใ€่…ธ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€่‚บๅ‰ฏ้ผป่…”ๆ„ŸๆŸ“็—‡ใ‚’ไผดใ†่ปฝๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใ‚’็—‡็Šถใจใ™ใ‚‹PLGC2้บไผๅญ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚PLAIDใจ้•ใ„ใ€ๅฏ’ๅ†ท่•้บป็–นใฏไผดใ‚ใชใ„ใ€‚ใŸใ ใ—ใ€PLAIDใงๆฌ ๅคฑใ™ใ‚‹CๆœซSH2้ ˜ๅŸŸๅ†…ใซใ‚ใ‚‹p.Ser707Tyrๅค‰็•ฐใฎ๏ผ‘ๅฎถ็ณปใฎใฟใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200072NANDO:2200442
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_058_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Sox-cord stromal tumour" + "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" @en
rdfs:label - "ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜" + "ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใŒใฃใบใ„ใตใ‰ใ™ใตใ‰ใ‚Šใฑใƒผใœใ—ใƒผใŒใ‚“ใพ2ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใŸใ„ใ‘ใฃใใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_058/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8208
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01743
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
+ skos:altLabel + "APLAID" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013944
skos:prefLabel - "ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜" + "่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200073 +
http://nanbyodata.jp/ontology/NANDO_2200443 (rdf:type owl:Class @@ -95739,62 +148873,95 @@

hasNotificationNumber33hasNotificationNumber22
dcterms:description - "ๅ‰ฏ่…Ž็šฎ่ณชใซ็™บ็”Ÿใ™ใ‚‹็จ€ใชๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CARD14้บไผๅญใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹ๅฐ‹ๅธธๆ€งไนพ็™ฌใ‚„่†ฟ็–ฑๆ€งไนพ็™ฌใฎ่ฒฌไปป้บไผๅญใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ใพใŸใ€้กžไผผใฎ็–พๆ‚ฃใงใ‚ใ‚‹familial pityriasis rubra pilarisใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใ‚‚ๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200073NANDO:2200443
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_059_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Epipharyngeal carcinoma" + "CARD14 deficiency" @en
rdfs:label - "ๅ‰ฏ่…Ž็šฎ่ณช็™Œ" + "CARD14็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ14ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_059/https://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
+ skos:altLabel + "CARD14ๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "Caspase recruitment domain-containing protein 14 deficiency" + @en
+ skos:altLabel + "Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011269
skos:prefLabel - "ๅ‰ฏ่…Ž็šฎ่ณช็™Œ" + "CARD14็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200074 +
http://nanbyodata.jp/ontology/NANDO_2200444 (rdf:type owl:Class @@ -95802,77 +148969,84 @@

hasNotificationNumber13hasNotificationNumber22
dcterms:description - "็”ฒ็Šถ่…บ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ€ๆง˜ใ€…ใช็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฑใƒซใƒ“ใ‚บใƒ ๏ผˆCherubism๏ผ‰ใฏใ€ไธŠ้กŽใพใŸใฏไธ‹้กŽใฎ้€ฒ่กŒๆ€ง็„ก็—›ๆ€งไธกๅดๆ€งๆ‹กๅคงใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใŠใ„ใฆ้ชจ่žๆ€ง็—…ๅค‰ใจ่ปŸ้ƒจ็ต„็น”ใฎ็ทš็ถญๆ€ง่ปŸ้ชจ็•ฐๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใฎ้Žๅ‰ฐๅๅฟœใซใ‚ˆใ‚Š็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณๅ‰้ง†ไฝ“ใ‚„็ ด้ชจ็ดฐ่ƒžๆ–ฐ็”Ÿใซ้–ขใ‚ใ‚‹ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็ ด้ชจ็ดฐ่ƒžใฎ็”ฃ็”ŸใŒไบข้€ฒใ—ใ€็‚Ž็—‡้ƒจไฝใซ็ ด้ชจ็ดฐ่ƒžใฏ้Žๅ‰ฐใซ้›†็ฉใ™ใ‚‹ใ“ใจใŒ่ƒŒๆ™ฏใซใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200074NANDO:2200444
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_060_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Thyroid cancer" + "Cherubism" @en
rdfs:label - "็”ฒ็Šถ่…บ็™Œ" + "ใ‘ใ‚‹ใณใšใ‚€" + @ja-Hira
+ rdfs:label + "ใ‚ฑใƒซใƒ“ใ‚บใƒ " @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00032http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=282
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_060/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00497
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002108 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200440
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015075http://purl.obolibrary.org/obo/MONDO_0007315
skos:prefLabel - "็”ฒ็Šถ่…บ็™Œ" + "ใ‚ฑใƒซใƒ“ใ‚บใƒ " @ja
- - + - - - - - - + + - + - - + + - - - - + "ใ‚ใ„ใˆใ‚‹10/ใ‚ใ„ใˆใ‚‹10ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - +
http://nanbyodata.jp/ontology/nando#2200075 +
http://nanbyodata.jp/ontology/NANDO_2200445 (rdf:type owl:Class @@ -95880,62 +149054,52 @@

hasNotificationNumber19
- dcterms:description - "ใŠใŠใ‚ˆใ็กฌๅฃ่“‹ใจ่ปŸๅฃ่“‹ใฎๆŽฅๅˆ้ƒจใฎ้ซ˜ใ•ใ‹ใ‚‰้ ญ่“‹ๅบ•ใพใงใฎไธŠๅ’ฝ้ ญใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ๆŒ‡ใ™ใ€‚" - @jahasNotificationNumber22
dcterms:identifier2200075NANDO:2200445
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_061_01.pdf + rdfs:label + "IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡" + @ja
rdfs:label - "Epipharyngeal carcinoma" + "Interleukin-10/interleukin-10 receptor deficiency" @en
rdfs:label - "ไธŠๅ’ฝ้ ญ็™Œ" - @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_061/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
skos:prefLabel - "ไธŠๅ’ฝ้ ญ็™Œ" + "IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200076 +
http://nanbyodata.jp/ontology/NANDO_2200446 (rdf:type owl:Class @@ -95943,67 +149107,74 @@

hasNotificationNumber29hasNotificationNumber22
dcterms:description - "ๅคงๅ”พๆถฒ่…บ๏ผˆ่€ณไธ‹่…บใ€้กŽไธ‹่…บใ€่ˆŒไธ‹่…บ๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ใ•ใ™ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚" @ja
dcterms:identifier2200076NANDO:2200446
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_062_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Salivery grand carcinoma" + "IL10 deficiency" @en
rdfs:label - "ๅ”พๆถฒ่…บ็™Œ" + "IL10ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01508 + rdfs:label + "ใ‚ใ„ใˆใ‚‹10ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_062/https://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200445
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016542
skos:prefLabel - "ๅ”พๆถฒ่…บ็™Œ" + "IL10ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200077 +
http://nanbyodata.jp/ontology/NANDO_2200447 (rdf:type owl:Class @@ -96011,72 +149182,74 @@

hasNotificationNumber2hasNotificationNumber22
dcterms:description - "ใƒกใƒฉใƒŽใ‚ตใ‚คใƒˆ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚" @ja
dcterms:identifier2200077NANDO:2200447
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_063_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Malignant melanoma" + "IL-10RA deficiency" @en
rdfs:label - "ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ" + "IL-10RAๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00038 + rdfs:label + "ใ‚ใ„ใˆใ‚‹10ใ‚ใƒผใ‚‹ใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_063/https://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200445
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005105http://purl.obolibrary.org/obo/MONDO_0013153
skos:prefLabel - "ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ" + "IL-10RAๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200078 +
http://nanbyodata.jp/ontology/NANDO_2200448 (rdf:type owl:Class @@ -96084,72 +149257,74 @@

hasNotificationNumber7hasNotificationNumber22
dcterms:description - "ๅ‰ฏ่…Ž้ซ„่ณชใฎใ‚ฏใƒญใƒ ่ฆชๅ’Œๆ€ง็ดฐ่ƒžใ‹ใ‚‰็”Ÿใ˜ใŸ่…ซ็˜ใ€‚ๅ‚็ฅž็ตŒ็ฏ€ใ‹ใ‚‰็”Ÿใ˜ใŸใ‚‚ใฎใฏ็‰นใซๅ‚็ฅž็ตŒ็ฏ€่…ซ๏ผˆใƒ‘ใƒฉใ‚ฌใƒณใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใ‚‚ๆคœๆŸปใƒ‡ใƒผใ‚ฟไธŠใ‚‚ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ไผดใ†ๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใ€ใใ†ใงใฏใชใ„้žๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๅ‚็ฅž็ตŒ็ฏ€่…ซใงใฏใ€ไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใจๅ‰ฏไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚" @ja
dcterms:identifier2200078NANDO:2200448
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_064_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Pheochromocytoma" + "IL-10RB deficiency" @en
rdfs:label - "่ค่‰ฒ็ดฐ่ƒž่…ซ" + "IL-10RBๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใˆใ‚‹10ใ‚ใƒผใ‚‹ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_064/https://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004974http://nanbyodata.jp/ontology/NANDO_2200445
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008233http://purl.obolibrary.org/obo/MONDO_0012941
skos:prefLabel - "่ค่‰ฒ็ดฐ่ƒž่…ซ" + "IL-10RBๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใดใƒผ12ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + + + + + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200079 +
http://nanbyodata.jp/ontology/NANDO_2200449 (rdf:type owl:Class @@ -96157,67 +149332,103 @@

hasNotificationNumber1
- dcterms:description - "่ƒธ่…บไธŠ็šฎ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใซ้ซ˜ๅบฆใฎ็•ฐๅž‹ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’่ƒธ่…บ่…ซใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใŒๆ˜Žใ‚‰ใ‹ใช็•ฐๅž‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’่ƒธ่…บ็™Œใจใ„ใ†ใ€‚ใพใŸใ€่ƒธ่…บ่…ซใฎไธญใซใ‚‚ๅ‘จๅ›ฒ็ต„็น”ใธๆตธๆฝคใ—้ ้š”่ปข็งปใ‚’ใใŸใ™ๅฏ่ƒฝๆ€งใฎใ‚ใ‚‹ใ‚‚ใฎใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber22
dcterms:identifier2200079NANDO:2200449
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_065_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Malignant thymoma" + "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" + @ja
+ rdfs:label + "NLRP12-associated periodic syndrome" @en
rdfs:label - "ๆ‚ชๆ€ง่ƒธ่…บ่…ซ" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_065/http://nanbyodata.jp/ontology/NANDO_2200454
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7538
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
+ skos:altLabel + "FCAS2" + @en
+ skos:altLabel + "familial cold autoinflammatory syndrome" + @en
+ skos:altLabel + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006451http://purl.obolibrary.org/obo/MONDO_0012724
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018768
skos:prefLabel - "ๆ‚ชๆ€ง่ƒธ่…บ่…ซ" + "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + + "ใงใƒใƒผใˆใƒผใงใƒใƒผใˆใƒผ2" + @ja-Hira - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200080 +
http://nanbyodata.jp/ontology/NANDO_2200450 (rdf:type owl:Class @@ -96225,62 +149436,69 @@

hasNotificationNumber12
- dcterms:description - "ไนณๅนผๅ…ๆœŸใฎ่‚บใ‚„็จ€ใซใฏๅฃๅด่ƒธ่†œใซ็™บ็”Ÿใ™ใ‚‹่ƒŽๅ…ๆ€งๆ‚ชๆ€ง่…ซ็˜ใ€‚" - @jahasNotificationNumber22
dcterms:identifier2200080NANDO:2200450
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_066_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Pleuropulmonaryblastoma" + "DADA2" + @ja
+ rdfs:label + "deficiency of the enzyme ADA2" @en
rdfs:label - "่ƒธ่†œ่‚บ่Šฝ่…ซ" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_066/https://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
+ skos:altLabel + "Adenosine deaminase 2 deficiency" + @en
skos:prefLabel - "่ƒธ่†œ่‚บ่Šฝ่…ซ" + "DADA2" @ja
- - + - - - - - - + + - + - + + + + + + "ใดใƒผใˆใ‚‹ใ—ใƒผใ˜ใƒผ2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200081 +
http://nanbyodata.jp/ontology/NANDO_2200451 (rdf:type owl:Class @@ -96288,62 +149506,72 @@

hasNotificationNumber11
- dcterms:description - "ๆฐ—็ฎกๆ”ฏใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ€็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใ ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber22
dcterms:identifier2200081NANDO:2200451
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_067_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Bronchial tumour" + "PLCG2็•ฐๅธธ็—‡" + @ja
+ rdfs:label + "PLCg2 deficiency" @en
rdfs:label - "ๆฐ—็ฎกๆ”ฏ่…ซ็˜" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_067/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8208
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013944
skos:prefLabel - "ๆฐ—็ฎกๆ”ฏ่…ซ็˜" + "PLCG2็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200082 +
http://nanbyodata.jp/ontology/NANDO_2200452 (rdf:type owl:Class @@ -96351,67 +149579,79 @@

hasNotificationNumber24hasNotificationNumber22
dcterms:description - "็™บ็”ŸๅˆๆœŸใฎ่†ต็ต„็น”ใซ้กžไผผใ—ใ€ๅฐๅ…ๆœŸใซๅฅฝ็™บใ™ใ‚‹ๅˆ†ๅŒ–ๆ–นๅ‘ไธๆ˜ŽใชไธŠ็šฎๆ€ง่†ต่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL36RNๆฌ ๆ็—‡ใฏใ€่‡จๅบŠ็š„ใซใฏๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใจ่จบๆ–ญใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ€ใใฎใ†ใกใฎไธ€้ƒจใฎๆ‚ฃ่€…ใซIL-36ๅ—ๅฎนไฝ“ใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200082NANDO:2200452
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_068_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Pancreatoblastoma" + "IL36RN deficiency" @en
rdfs:label - "่†ต่Šฝ่…ซ" + "IL36RNๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใˆใ‚‹36ใ‚ใƒผใ‚‹ใˆใฌใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_068/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7903
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019035http://purl.obolibrary.org/obo/MONDO_0013626
skos:prefLabel - "่†ต่Šฝ่…ซ" + "IL36RNๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใพใ˜ใƒใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200083 +
http://nanbyodata.jp/ontology/NANDO_2200453 (rdf:type owl:Class @@ -96419,62 +149659,93 @@

hasNotificationNumber43hasNotificationNumber22
dcterms:description - "ๅ‰่ฟฐใ•ใ‚ŒใŸไปฅๅค–ใฎๅ›บๅฝข่…ซ็˜ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚Majeed็—‡ๅ€™็พคใฏใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž๏ผˆCRMO๏ผšchronic recurrent multifocal osteomyelitis๏ผ‰ใซๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€๏ผˆCDA๏ผšcongenital dyserythropoietic anemia๏ผ‰ใŠใ‚ˆใณ็šฎ็–น๏ผˆSweet็—‡ๅ€™็พคใพใŸใฏ่†ฟ็–ฑ็—‡๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200083NANDO:2200453
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_069_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜" + "Majeed syndrome" + @en
+ rdfs:label + "Majeed็—‡ๅ€™็พค" @ja
rdfs:label - "Other solid tumours" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_069/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6592
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100006http://nanbyodata.jp/ontology/NANDO_2200440
+ skos:altLabel + "Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutropilic dermatosis" + @en
+ skos:altLabel + "MJDS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012316
skos:prefLabel - "27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜" + "Majeed็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + + "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใดใƒผ12ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + + + + + + + + + - + + + + + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200084 +
http://nanbyodata.jp/ontology/NANDO_2200454 (rdf:type owl:Class @@ -96482,72 +149753,110 @@

hasNotificationNumber68hasNotificationNumber22
dcterms:description - "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใใฎใ†ใกๆœ€ใ‚‚ๆ‚ชๆ€งๅบฆใฏไฝŽใใ€WHOๅˆ†้กžใ‚ฐใƒฌใƒผใƒ‰โ… ใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๅขƒ็•Œๆ˜Ž็žญใงใ€ๅข—ๅคงใฏ็ทฉๅพใ€ใ—ใฐใ—ใฐๅšข่ƒžใ‚’ไผดใฃใฆใ€ๅฐๅ…ใ‚„่‹ฅๅนดๆˆไบบใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่…ซ็˜็ดฐ่ƒžใฏๅตๅ††ๅฝขใฎๆ ธใ‚’ๆœ‰ใ—ใฆ้•ทใไผธใณใ€ๆฏ›ใซไผผใŸๅค–่ฆณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใฏใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค๏ผˆcryopyrin-associated periodic syndrome๏ผšCAPS๏ผ‰ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšNLRP3ใ€MEFVใ€TNFRSF1Aใ€MVK้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—‡ไพ‹ใซใ€2008ๅนดNLRP12้บไผๅญใซใƒ˜ใƒ†ใƒญๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹๏ผˆfamilial cold autoinflammatory syndrome๏ผšFCAS2๏ผ‰ใ€ใ‚ใ‚‹ใ„ใฏNAPS12๏ผˆNLRP12-associated periodic syndrome๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200084NANDO:2200454
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_070_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Pilocytic astrocytoma" + "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" + @ja
+ rdfs:label + "NLRP12-associated periodic syndrome" @en
rdfs:label - "ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_070/http://nanbyodata.jp/ontology/NANDO_2200449
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7538
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2200440
+ skos:altLabel + "FCAS2" + @en
+ skos:altLabel + "familial cold autoinflammatory syndrome" + @en
+ skos:altLabel + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004000http://purl.obolibrary.org/obo/MONDO_0012724
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016691http://purl.obolibrary.org/obo/MONDO_0018768
skos:prefLabel - "ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200085 +
http://nanbyodata.jp/ontology/NANDO_2200455 (rdf:type owl:Class @@ -96555,72 +149864,86 @@

hasNotificationNumber64hasNotificationNumber22
dcterms:description - "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ใใฎใ†ใกใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏWHOๅˆ†้กžๆ‚ชๆ€งๅบฆโ…กใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏ่‹ฅๅนดๆˆไบบใซๅคšใใ€ๅข—ๅคงใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใฎใฉใฎ้ƒจๅˆ†ใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€ใƒ†ใƒณใƒˆไธŠใฎใ“ใจใŒๅคšใ„ใ€‚้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใ‚„่† ่Šฝ่…ซใจใ„ใฃใŸ้ซ˜ๆ‚ชๆ€งๅบฆใ‚ฐใƒชใ‚ชใƒผใƒžใซ่ปขๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅฏ’ๅ†ท่ช˜็™บ่•้บป็–นใ‚’ไธป็—‡็Šถใจใ—ใฆใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃ๏ฝฅใ‚ขใƒฌใƒซใ‚ฎใƒผ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚Phospholipase Cg2๏ผˆPLCG2๏ผ‰้บไผๅญใฎ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200085NANDO:2200455
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_071_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Diffuse astrocytoma" + "PLCG2-associated antibody deficiency and immune dysregulation" @en
rdfs:label - "ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + "ใตใ‰ใ™ใตใ‰ใ‚Šใฑใƒผใœใ—ใƒผใŒใ‚“ใพ2ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใŸใ„ใ‘ใฃใใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_071/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8049
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2200440
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016686 + skos:altLabel + "PLAID" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016688http://purl.obolibrary.org/obo/MONDO_0013766
skos:prefLabel - "ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + "ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200086 +
http://nanbyodata.jp/ontology/NANDO_2200456 (rdf:type owl:Class @@ -96628,67 +149951,74 @@

hasNotificationNumber63hasNotificationNumber22
dcterms:description - "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€้€€่กŒๅฝขๆˆๆ‰€่ฆ‹ใจๅข—ๆฎ–่ƒฝใฎไบข้€ฒใ‚’็คบใ™ๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€่„ณๅ†…ใซใณใพใ‚“ๆ€งใซๆตธๆฝคใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IIIใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚่† ่Šฝ่…ซใธใจ้€ฒๅฑ•ใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใ€ๆ ธใฎๅคšๅฝขๆˆใ€‚ใ‚ฏใƒญใƒžใƒใƒณ้‡ใ€ๆ ธ็ดฐ่ƒž่ณชๆฏ”ใชใฉใŒ้ซ˜ใใ€ๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅฃŠๆญปๅทฃใฏ่ชใ‚ใชใ„ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚RBCK1ๆฌ ๆ็—‡ใฏใ€็นฐใ‚Š่ฟ”ใ™็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ถ™็ถšใ™ใ‚‹็‚Ž็—‡็—…ๆ…‹ใ€็ญ‹๏ฝฅๅฟƒ็ญ‹๏ฝฅ่‚่‡“ใซ็›ด้Ž–ไธŠใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใฎใŸใ‚ใ€ๅฟƒ็ญ‹้šœๅฎณใ€็ญ‹้šœๅฎณใ‚’ใใŸใ™ใ€‚NF-kBๆดปๆ€งๅŒ–ใซ้–ขใ‚ใ‚‹ใ€LUBAC(linear ubiquitin chain assembly)ใฎไธ€ๆง‹ๆˆๅˆ†ๅญใงใ‚ใ‚‹RBCK1้บไผๅญใฎๆฉŸ่ƒฝๅ–ชๅคฑใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200086NANDO:2200456
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_072_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Anaplastic astrocytoma" + "RBCK1 deficiency" @en
rdfs:label - "้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + "RBCK1ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใƒผใ‚‹ใณใƒผใ—ใƒผใ‘ใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_072/https://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2200440
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016684http://purl.obolibrary.org/obo/MONDO_0018348
skos:prefLabel - "้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ" + "RBCK1ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200087 +
http://nanbyodata.jp/ontology/NANDO_2200457 (rdf:type owl:Class @@ -96696,72 +150026,79 @@

hasNotificationNumber52hasNotificationNumber22
dcterms:description - "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€่† ่Šฝ่…ซใฏ่‘—ๆ˜Žใช้€€ๅฝขๆˆใจ้ซ˜ใ„ๅข—ๆฎ–ๆดปๆ€งใ‚’็คบใ™่† ่…ซใงใ€่„ณๅฎŸ่ณชๅ†…ใซๆตธๆฝคๆ€ง็ ดๅฃŠๆ€งใซๅข—ๆฎ–ใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IVใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใŒ้ซ˜ใใ€ๆง‹ๆˆ็ดฐ่ƒžใฏๅคš็จฎๅคšๆง˜ใฎๅฝขๆ…‹ใ‚’็คบใ™ใ€‚ๆ ธๅˆ†่ฃ‚ๅƒใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใ‚‹ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚SLC29A3็•ฐๅธธ็—‡ใฏใ€SLC29A3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒฉใƒ–ๅฎถ็ณปใ‚’ไธญๅฟƒใซใ€SLC29A3ๅค‰็•ฐใŒๅŽŸๅ› ใงใ€้ ญๆ–‡ๅญ—ใŒHใงๅง‹ใพใ‚‹ใ€่‰ฒ็ด ้Žๅ‰ฐ็—‡ (Hyperpigmentation), ๅคšๆฏ›็—‡ (Hypertrichosis), ่‚่„พ่…ซ (Hepatosplenomegaly), ๅฟƒๅฅ‡ๅฝข (Heart anomalies), ้›ฃ่ด (Hearing loss), ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ (Hypogonadism), ไฝŽ่บซ้•ท (low Height), ้ซ˜่ก€็ณ– (Hyperglycemia)ใจใ„ใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹H็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€่‡ชๅทฑ็‚Ž็—‡็—‡็Šถใ‚’ๆœ‰ใ—ใ€H็—‡ๅ€™็พคใจๅ…ฑ้€šใฎ็šฎ่†š็—‡็Šถใ‚’ๅ‘ˆใ—ใŸๅฐๅ…ใงSLC29A3ๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€ใ“ใฎ้บไผๅญๅค‰็•ฐใ‚‚่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎๅŽŸๅ› ใจใชใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚" @ja
dcterms:identifier2200087NANDO:2200457
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Glioblastoma" + "SLC29A3 deficiency" @en
rdfs:label - "่† ่Šฝ่…ซ" + "SLC29A3็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใˆใ™ใˆใ‚‹ใ—ใƒผ29ใˆใƒผ3ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_073/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4092
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018177 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200440
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020690http://purl.obolibrary.org/obo/MONDO_0011273
skos:prefLabel - "่† ่Šฝ่…ซ" + "SLC29A3็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + - - + + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200088 +
http://nanbyodata.jp/ontology/NANDO_2200458 (rdf:type owl:Class @@ -96769,77 +150106,79 @@

hasNotificationNumber53hasNotificationNumber22
dcterms:description - "ไธŠ่กฃ่…ซใฏ่„ณๅฎคใ€่„Š้ซ„ไธญๅฟƒ้ƒจใฎ่กจ้ขใ‚’่ฆ†ใฃใฆใ„ใ‚‹ไธŠ่กฃ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใจใƒ†ใƒณใƒˆไธ‹ใงใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ไธŠ่กฃ่…ซใงใ‚ใฃใฆใ‚‚ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏ็•ฐใชใ‚‹ใ€‚็—…็†ๆ‰€่ฆ‹ใงใฏ้กžๅ††ๅฝขๆ ธใจๅขƒ็•Œใฎไธๆ˜Ž็žญใชๅผฑๅฅฝ้…ธๆ€งใฎ็ดฐ่ƒž่ณชใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่ƒžใŒใณใพใ‚“ๆ€งใซๅข—ๆฎ–ใ—ใ€่ก€็ฎกๅ‘จๅ›ฒๆ€งๅฝใƒญใ‚ผใƒƒใƒˆใ‚„ไธŠ่กฃใƒญใ‚ผใƒƒใƒˆใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใŒ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚้€€ๅฝขๆˆๆ€งใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏ้€€ๅฝขๆˆๆ€งไธŠ่กฃ่…ซใงใ‚ใ‚Šใ€ไธŠ่กฃ่…ซใฏWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใงใ‚ใ‚‹ใฎใซๅฏพใ—ใ€ใ‚ฐใƒฌใƒผใƒ‰ IIIใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚TNFAIP3้บไผๅญใซใ‚ˆใ‚Šใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹ๅˆ†ๅญA20ใฏใ€tumor necrosis factor (TNF) โ€“ nuclear factor (NF)-ฮบB็ตŒ่ทฏใ‚’ๆŠ‘ๅˆถ็š„ใซ่ชฟ็ฏ€ใ™ใ‚‹ๅˆ†ๅญใงใ‚ใ‚‹ใ€‚2015ๅนด12ๆœˆใซTNFAIP3้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง่‹ฅๅนด็™บ็—‡ใ™ใ‚‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ๆง˜ใฎ็–พๆ‚ฃใจใ—ใฆA20ใƒใƒ—ใƒญไธๅ…จ็—‡(HA20)ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚A20ใซใฏNๆœซ็ซฏ้ ˜ๅŸŸใฎovarian tumor (OTU)ใƒ‰ใƒกใ‚คใƒณใจCๆœซ็ซฏ้ ˜ๅŸŸใซ7ใคใฎzinc finger(ZF)ใƒ‰ใƒกใ‚คใƒณใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚ŒTNF-ฮฑใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซใŠใ„ใฆRIP1ใฎK63ใƒใƒชใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’่„ฑใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–ใ™ใ‚‹ไฝœ็”จใจใ€4็•ช็›ฎใฎZFใŒreceptor interacting protein kinase 1 (RIP1)ใซK48ใƒใƒใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’ไป˜ๅŠ ใ™ใ‚‹ใ“ใจใงใ€ใƒ—ใƒญใƒ†ใ‚ขใƒผใ‚ผใซใ‚ˆใ‚Šๅˆ†่งฃใ™ใ‚‹ไฝœ็”จใ‚’ๆŒใคใ€‚ใพใŸใ€7็•ช็›ฎใฎZFใŒ็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใจ็ตๅˆใ™ใ‚‹ใ“ใจใงใ€ใƒชใ‚ฌใƒณใƒ‰ๅˆบๆฟ€ใซใ‚ˆใ‚Šๅคš้‡ไฝ“ใ‚’ๅฝขๆˆใ—ใ‚ˆใ†ใจใ™ใ‚‹TNFๅ—ๅฎนไฝ“่ค‡ๅˆไฝ“ใจใ€ใใ“ใซไผšๅˆใ™ใ‚‹linear ubiquitin chain assembly complex (LUBAC)ใ‚„inhibitor of NF-ฮบB kinase (IKK)่ค‡ๅˆไฝ“ใชใฉใฎNF-ฮบBๆดปๆ€งๅŒ–ๅˆ†ๅญใฎ่งฃ้›ขใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ใ“ใฎ3ใคใฎไฝœ็”จใซใ‚ˆใฃใฆใ€TNF - NF-ฮบB็ตŒ่ทฏใซๅฏพใ—ใฆๆŠ‘ๅˆถ็š„ใซๅƒใใ“ใจใซใชใ‚‹ใ€‚HA20ๆ‚ฃ่€…ใงใฏใ€A20ใฎใƒใƒ—ใƒญไธๅ…จใซใ‚ˆใฃใฆใ€ใ‚ทใ‚ฐใƒŠใƒซไผ้”ๆŠ‘ๅˆถๅŠนๆžœใŒๆธ›ๅผฑใ™ใ‚‹ใ“ใจใŒไธป่ฆใช่ฆๅ› ใจใชใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ…จ่บซๆ€งใฎ็‚Ž็—‡็—…ๆ…‹(ใ™ใชใ‚ใก่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ)ใ‚’็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200088NANDO:2200458
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_074_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Ependymoma" + "A20 haploinsufficiency" @en
rdfs:label - "ไธŠ่กฃ่…ซ" + "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_074/ + rdfs:label + "ใˆใƒผ20ใฏใทใ‚ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007 + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200997
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003478 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016698 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200440
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024498http://purl.obolibrary.org/obo/MONDO_0100222
skos:prefLabel - "ไธŠ่กฃ่…ซ" + "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - - - - - - - - - - - - - - - + "FCAS4" + @en
http://nanbyodata.jp/ontology/nando#2200089 +
http://nanbyodata.jp/ontology/NANDO_2200459 (rdf:type owl:Class @@ -96847,89 +150186,81 @@

hasNotificationNumber65hasNotificationNumber22
dcterms:description - "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไน็ช่ตท่† ็ดฐ่ƒž็”ฑๆฅใฎไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ€ๅฐๅ…ใฎ่„ณ่…ซ็˜ใงใฏๆฅตใ‚ใฆใพใ‚Œใชใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€ไน็ช่ตท่† ็ดฐ่ƒžใซ้กžไผผใ—ใŸไธญๅฟƒๆ€งใฎ้กžๅ††ๅฝขๆ ธใจๆทกๆ˜Žใช็ดฐ่ƒž่ณชใ‚’ๆŒใกใ€็ดฐ่ƒžใฎ่ผช้ƒญใŒๆ˜Ž็ขบใช่…ซ็˜็ดฐ่ƒžใŒๅ‡ไธ€ใซๅˆ†ๅธƒใ—ใ€็ดฐ่ƒžๅฏ†ๅบฆใฏใ‚„ใ‚„้ซ˜ใ„ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ•ใ‚‰ใซๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ไน็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰II๏ผ‰ใจไน้€€ๅฝขๆˆๆ€ง็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰III๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRC4็•ฐๅธธ็—‡ใฏใ€NLRC4ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็‚Ž็—‡ใ‚’ไธป็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ไฝ“็ดฐ่ƒžใƒขใ‚ถใ‚คใ‚ฏใฎ็—‡ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200089NANDO:2200459
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_075_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label - "Oligodendroglioma" + "NLRC4 mutation" @en
rdfs:label - "ไน็ช่ตท็ฅž็ตŒ่† ่…ซ" + "NLRC๏ผ”็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใ—ใƒผ4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_075/http://nanbyodata.jp/ontology/NANDO_1200994
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2200440
skos:altLabel - "ไน็ช่ตท่† ่…ซ" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002540
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002543
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016695
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024498
skos:prefLabel - "ไน็ช่ตท็ฅž็ตŒ่† ่…ซ" + "NLRC๏ผ”็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + "1ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira + + + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200090 +
http://nanbyodata.jp/ontology/NANDO_2200460 (rdf:type owl:Class @@ -96937,82 +150268,79 @@

hasNotificationNumber58hasNotificationNumber1
dcterms:description - "ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ่“‹็ชฉใซ็™บ็”Ÿใ—ๆœชๅˆ†ๅŒ–ใชๅฐๅž‹็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹ใŒใ€่ตทๆบ็ดฐ่ƒžใซใฏ่ซธ่ชฌใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใใ€ๅˆ็™บๆ™‚ๆ‚ฃ่€…ใฎ15โˆ’40๏ผ…ใซ้ซ„่…”ๅ†…ๆ’ญ็จฎใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€WHOๅˆ†้กžใซใ‚ˆใ‚‹ใจใ€ๆฌกใฎ5ใคใฎ็ต„็น”ๅž‹ใŒใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„้ซ„่Šฝ่…ซใ€้€€ๅฝขๆˆๆ€ง้ซ„่Šฝ่…ซใ€ๅคง็ดฐ่ƒžๅž‹้ซ„่Šฝ่…ซใ€็ทš็ถญๅฝขๆˆๆ€ง๏ผ็ต็ฏ€ๆ€ง้ซ„่Šฝ่…ซใ€ๅบƒ็ฏ„ใชๅฐ็ต็ฏ€ๅฝขๆˆใ‚’ไผดใ†้ซ„่Šฝ่…ซใ€‚" + "็ณ–ๅฐฟ็—…ใฏใ€ใ‚คใƒณใ‚นใƒชใƒณใฎๅˆ†ๆณŒไธๅ…จใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ€ใ‚ใ‚‹ใ„ใฏใใฎไธก่€…ใซใ‚ˆใ‚‹ๆ…ขๆ€ง็š„ใช้ซ˜่ก€็ณ–ใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ไปฃ่ฌ็•ฐๅธธใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฏใ€่†ตฮฒ็ดฐ่ƒžใฎ็ ดๅฃŠใซใ‚ˆใ‚‹ๅ†…ๅ› ๆ€งใ‚คใƒณใ‚นใƒชใƒณไธ่ถณใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€้€šๅธธใฏ็ตถๅฏพ็š„ใชใ‚คใƒณใ‚นใƒชใƒณๆฌ ไนใซ้™ฅใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฎๆฒป็™‚ใฎๅŸบๆœฌใฏใ€ใ‚คใƒณใ‚นใƒชใƒณ่ฃœๅ……็™‚ๆณ•ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200090NANDO:2200460
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_076_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_001_01.pdf
rdfs:label - "Medulloblastoma" - @en
rdfs:label - "้ซ„่Šฝ่…ซ" + "1ๅž‹็ณ–ๅฐฟ็—…" @ja
+ rdfs:label + "Diabetes mellitus type 1" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01667https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00408
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_076/https://www.shouman.jp/disease/details/07_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002794
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002797http://nanbyodata.jp/ontology/NANDO_2100158
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007959http://purl.obolibrary.org/obo/MONDO_0005147
skos:prefLabel - "้ซ„่Šฝ่…ซ" + "1ๅž‹็ณ–ๅฐฟ็—…" @ja
- - + - - + + - + - + + "2ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira + + + + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200091 +
http://nanbyodata.jp/ontology/NANDO_2200461 (rdf:type owl:Class @@ -97020,67 +150348,89 @@

hasNotificationNumber60hasNotificationNumber6
dcterms:description - "ใƒˆใƒซใ‚ณ้žไธŠ้ƒจใซ็™บ็”Ÿใ—ๅšข่ƒžๅฝขๆˆใ‚’ไผดใ†ไธŠ็šฎๆ€งใฎ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใƒฉใƒˆใ‚ฑๅšข่ƒž็”ฑๆฅใจใ•ใ‚Œใ€็ต„็น”ๅญฆ็š„ใซใ‚จใƒŠใƒกใƒซไธŠ็šฎ่…ซๅž‹ใจไนณ้ ญๅž‹ใซๅˆ†้กžใงใใ€ไนณ้ ญๅž‹ใฏๅฐๅ…ใซใฏๅฐ‘ใชใ„ใ€‚" + "ๆ—ฅๆœฌไบบๅฐๅ…2ๅž‹็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใฎ็ด„70๏ฝž80๏ผ…ใฏใ€่จบๆ–ญๆ™‚ใซ่‚ฅๆบ€ใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆˆไบบใฎ็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใงใฏใ€ใ‚ใพใ‚Š่‚ฅๆบ€ใฏ้ก•่‘—ใงใฏใชใ„ใ€‚ใคใพใ‚Šใ€่ฟ‘ๅนดใ€ๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ๅพ“ๆฅใ‹ใ‚‰ๆ—ฅๆœฌไบบใงใฟใ‚‰ใ‚Œใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใจ็—…ๅ› ใƒป็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚่‚ฅๆบ€ใ‚’ไผดใ†ๅฐๅ…2ๅž‹ใงใฏใ€ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใŒใ‚ใ‚Šใ€ใใ‚Œใซไผดใฃใฆใ‚ขใƒ‡ใ‚ฃใƒใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎๅˆ†ๆณŒ็•ฐๅธธใŒ่ตทใใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใŒ้ซ˜ใพใ‚‹ใ“ใจใŒใ€ไธป่ฆใช็—…ๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใจใใ‚Œใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใฎๅข—ๅคงใ‚’ไธญๅฟƒใจใ—ใŸไปฃ่ฌ็•ฐๅธธใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใจใ—ใฆ็พๅœจใ€ๅบƒใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่จ€ใ„ๆ›ใˆใ‚‹ใจใ€่ฟ‘ๅนดๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใ‚’ๅŸบ็คŽใซใ—ใฆ้€ฒ่กŒใ—ใŸ็ณ–ๅฐฟ็—…ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใŸใ ใ—ใ€20๏ฝž30๏ผ…ใฎๆ‚ฃ่€…ใงใฏ่‚ฅๆบ€ใ‚’ไผดใฃใฆใŠใ‚‰ใšใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใจใ„ใ†ใ‚ˆใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใฎไฝŽไธ‹ใ‚’ไธปไฝ“ใจใ™ใ‚‹็พคใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎ็พคใงใฏใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’ไฟƒใ™็ตŒๅฃ่ก€็ณ–้™ไธ‹่–ฌใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200091NANDO:2200461
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_077_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_002_01.pdf
rdfs:label - "Craniopharyngioma" - @en
rdfs:label - "้ ญ่“‹ๅ’ฝ้ ญ่…ซ" + "2ๅž‹็ณ–ๅฐฟ็—…" @ja
+ rdfs:label + "Diabetes mellitus type 2" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_077/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=433
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00409
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100158
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018907http://purl.obolibrary.org/obo/MONDO_0005148
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007452
skos:prefLabel - "้ ญ่“‹ๅ’ฝ้ ญ่…ซ" + "2ๅž‹็ณ–ๅฐฟ็—…" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200092 +
http://nanbyodata.jp/ontology/NANDO_2200462 (rdf:type owl:Class @@ -97088,67 +150438,93 @@

hasNotificationNumber54hasNotificationNumber4
dcterms:description - "ๆพๆžœไฝ“็ดฐ่ƒžใซ้กžไผผใ—ใŸ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€ๆพๆžœไฝ“็ดฐ่ƒžใƒญใ‚ผใƒƒใƒˆใ‚’ไผดใ†ใ‚‚ใฎใจๅคงๅฐใฎ็ฅž็ตŒ็ดฐ่ƒžใŒๆททๅœจใ™ใ‚‹ๅคšๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆพๆžœไฝ“ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๆœช็†Ÿใชๆ‚ชๆ€งใฎ่…ซ็˜ใฏๆพๆžœไฝ“่Šฝ่…ซใงใ€ๅฐๅž‹ใฎๆœชๅˆ†ๅŒ–ใช็ดฐ่ƒžใฎๅ……ๅฎŸๆ€งๅข—ๆฎ–ใ‹ใ‚‰ใชใ‚Šใ€ๅ‘จๅ›ฒใธใฎๆตธๆฝคใ€้ซ„ๆถฒๆ’ญ็จฎใ‚’ใใŸใ—ใ‚„ใ™ใใ€WHOใ‚ฐใƒฌใƒผใƒ‰IVใจๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚" + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… (ไปฅไธ‹MODY) ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใง็™บ็—‡ใ™ใ‚‹่‹ฅๅนด็ณ–ๅฐฟ็—…ใงใ‚ใ‚Šใ€็ณ–ไปฃ่ฌใซ้–ขใ‚ใ‚‹ๅ˜ไธ€้บไผๅญใฎๆฉŸ่ƒฝ้šœๅฎณ๏ผˆ้บไผๅญๅค‰็•ฐใ€้บไผๅญๅ…จไฝ“ ใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎๆฌ ๅคฑใชใฉใซใ‚ˆใ‚‹๏ผ‰ใŒๅŽŸๅ› ใจใชใฃใฆ็ณ–ๅฐฟ็—…ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏไปŠๆ—ฅใพใงใซ13็จฎ้กžใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅŽŸๅ› ไธๆ˜ŽใฎMODYXใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200092NANDO:2200462
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_078_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
rdfs:label - "Pineocytoma" + "maturity-onset diabetes of the young" @en
rdfs:label - "ๆพๆžœไฝ“่…ซ" + "ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_078/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4448
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100158
+ skos:altLabel + "MODY" + @en
+ skos:altLabel + "MODY" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016723http://purl.obolibrary.org/obo/MONDO_0018911
skos:prefLabel - "ๆพๆžœไฝ“่…ซ" + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…" @ja
- - + - - + + - + - + + "ใ—ใ‚“ใ›ใ„ใ˜ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200093 +
http://nanbyodata.jp/ontology/NANDO_2200463 (rdf:type owl:Class @@ -97156,72 +150532,74 @@

hasNotificationNumber67hasNotificationNumber5
dcterms:description - "่„ˆ็ตกๅขไธŠ็šฎใซ้กžไผผใ—ใŸ็ดฐ่ƒžใŒไนณ้ ญ็Šถๆง‹้€ ใ‚’ไฝœใ‚‹่„ณๅฎคๅ†…่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ˆ็ตกๅขไนณ้ ญ่…ซใฏ็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใงWHO ใ‚ฐใƒฌใƒผใƒ‰Iใงใ‚ใ‚‹ใ€‚็•ฐๅž‹่„ˆ็ตกๅขไนณ้ ญ่…ซใฏๆ ธๅˆ†่ฃ‚ๆดปๆ€งใŒไบข้€ฒใ—ใŸ่„ˆ็ตกๅข่…ซ็˜ใงใ‚ใ‚ŠWHOใ‚ฐใƒฌใƒผใƒ‰IIใงใ€่„ˆ็ตกๅข็™Œใฏๆ˜Žใ‚‰ใ‹ใช้€€ๅฝขๆˆๆ‰€่ฆ‹ใ‚’็คบใ™่„ˆ็ตกๅข่…ซ็˜ใงWHOใ‚ฐใƒฌใƒผใƒ‰IIIใจๆ‚ชๆ€งๅบฆใŒๅข—ใ™ใ€‚" + "ใ€Œๆ–ฐ็”Ÿๅ…ใ€ใฏ็”ŸๅพŒ1ใ‹ๆœˆไปฅๅ†…ใ‚’ๆŒ‡ใ™ใŒใ€ใ€Œๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใฏไธ€่ˆฌใซ็”ŸๅพŒ6ใ‹ๆœˆๆœชๆบ€ใซ็™บ็—‡ใ—ใŸ็ณ–ๅฐฟ็—…ใจใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งใฎใ‚‚ใฎใฏๅฐ‘ใชใใ€ๅคšใใฏ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚็”ŸๅพŒ18ใ‹ๆœˆใพใงใซๆฒป็™’ใ™ใ‚‹ไธ€้Žๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใจใ€ไปฅๅพŒใ‚‚ๆŒ็ถšใ™ใ‚‹ๆฐธ็ถšๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200093NANDO:2200463
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_079_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_004_01.pdf
rdfs:label - "Choroid plexus papilloma" + "neonatal diabetes mellitus" @en
rdfs:label - "่„ˆ็ตกๅขไนณ้ ญ่…ซ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01007 + rdfs:label + "ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_079/https://www.shouman.jp/disease/details/07_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100158
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009837http://purl.obolibrary.org/obo/MONDO_0016391
skos:prefLabel - "่„ˆ็ตกๅขไนณ้ ญ่…ซ" + "ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…" @ja
- - + - - + + - + - + + "ใ„ใ‚“ใ™ใ‚Šใ‚“ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200094 +
http://nanbyodata.jp/ontology/NANDO_2200464 (rdf:type owl:Class @@ -97229,77 +150607,69 @@

hasNotificationNumber59hasNotificationNumber2
dcterms:description - "้ซ„่†œ่ขซ็ดฐ่ƒž๏ผˆใใ‚‚่†œ็ดฐ่ƒž๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใช่…ซ็˜ใงใ€็กฌ่†œใฎๅ†…้ขใซๅ›บ็€ใ—้ซ„ๅค–ๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ€‚ๆธฆๅทปใๆง‹้€ ใ‚„็Ÿณ็ฐๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ๅคšๆง˜ใช็ต„็น”ไบœๅž‹ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใŒใ€็•ฐๅฝขๆ€งใ‚’็คบใ™ไพ‹๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใ€III๏ผ‰ใงใฏๅ†็™บใ—ใ‚„ใ™ใ„ใ€‚" + "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“ๆฉŸ่ƒฝใซ็•ฐๅธธใŒใ‚ใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒๆญฃๅธธใซ่กŒใ‚ใ‚Œใชใ„็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚" @ja
dcterms:identifier2200094NANDO:2200464
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_080_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_005_01.pdf
rdfs:label - "Meningioma" + "insulin receptor abnormality" @en
rdfs:label - "้ซ„่†œ่…ซ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01556 + rdfs:label + "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_080/https://www.shouman.jp/disease/details/07_01_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003057
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016642http://nanbyodata.jp/ontology/NANDO_2100158
skos:prefLabel - "้ซ„่†œ่…ซ" + "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + "ใ—ใผใ†ใ„ใ—ใ‚…ใใ›ใ„ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200095 +
http://nanbyodata.jp/ontology/NANDO_2200465 (rdf:type owl:Class @@ -97307,72 +150677,79 @@

hasNotificationNumber50hasNotificationNumber3
dcterms:description - "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎๅฎŸ่ณช็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่‰ฏๆ€ง่…ซ็˜๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ€็”ฃ็”Ÿใƒ›ใƒซใƒขใƒณใฎ็จฎ้กžใซใ‚ˆใฃใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็›ดๅพ„10mmใ‚ˆใ‚Šๅคงใใ„ใ‚‚ใฎใ‚’ๅทจๅคง่…ซ็˜ใจใ—ใ€10mmไปฅไธ‹ใงใƒˆใƒซใ‚ณ้žๅ†…ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‚’ๅพฎๅฐ่…บ่…ซใจใ™ใ‚‹ใ€‚" + "่„‚่‚ช่Ž็ธฎ็—‡ใฏใ€ๅ…จ่บซใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†็š„ใซ่„‚่‚ช็ต„็น”ใŒๆธ›ๅฐ‘ใ€ใ‚ใ‚‹ใ„ใฏๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ซ˜้ ปๅบฆใซใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใƒ‰่ก€็—‡ใ€่„‚่‚ช่‚็ญ‰ใฎ็ณ–่„‚่ณชไปฃ่ฌ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200095NANDO:2200465
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_081_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_006_01.pdf
rdfs:label - "Pituitary adenoma" + "lipoatrophic diabetes" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“่…บ่…ซ" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01102 + rdfs:label + "่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_081/https://www.shouman.jp/disease/details/07_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100158
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006373http://purl.obolibrary.org/obo/MONDO_0005827
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018883
skos:prefLabel - "ไธ‹ๅž‚ไฝ“่…บ่…ซ" + "่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…" @ja
- - + - - + + - + - + + "1ใ‹ใ‚‰6ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200096 +
http://nanbyodata.jp/ontology/NANDO_2200466 (rdf:type owl:Class @@ -97380,67 +150757,69 @@

hasNotificationNumber56hasNotificationNumber7
dcterms:description - "่…ซ็˜ๆ€งๆ ผใ‚’ๆŒใคๅคงๅž‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚" + "็ณ–ๅฐฟ็—…ใฏใ€ๆ…ขๆ€ง็š„ใซ้ซ˜่ก€็ณ–ใ‚’ใใŸใ™็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚1ใ‹ใ‚‰6ใพใงใซ1ๅž‹ใ€2ๅž‹ใ€่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆMODY๏ผ‰ใ€ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ใ€่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€ใŒๆŒ™ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎ็ณ–ๅฐฟ็—…ใจใ—ใฆใ€่†ตๅค–ๅˆ†ๆณŒ็–พๆ‚ฃใ€ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ€่–ฌๅ‰คใ‚„ๅŒ–ๅญฆ็‰ฉ่ณชใซใ‚ˆใ‚‹ใ‚‚ใฎใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚‹ใพใ‚Œใช็—…ๆ…‹ใ€ใใฎไป–ใฎ้บไผ็š„็—‡ๅ€™็พคใง็ณ–ๅฐฟ็—…ใ‚’ไผดใ†ใ“ใจใฎๅคšใ„ใ‚‚ใฎใ€ใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200096NANDO:2200466
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_082_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_007_01.pdf
rdfs:label - "Ganglioglioma" - @en
rdfs:label - "็ฅž็ตŒ็ฏ€่† ่…ซ" + "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—…" @ja
+ rdfs:label + "Other diabetes mellitus" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_082/https://www.shouman.jp/disease/details/07_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016733http://nanbyodata.jp/ontology/NANDO_2100158
skos:prefLabel - "็ฅž็ตŒ็ฏ€่† ่…ซ" + "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—…" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200097 +
http://nanbyodata.jp/ontology/NANDO_2200467 (rdf:type owl:Class @@ -97448,74 +150827,112 @@

hasNotificationNumber57hasNotificationNumber17
dcterms:description - "ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ˆใๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใŸๅคงๅž‹ใฎ่…ซ็˜ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚Šใ€ๅพใ€…ใซ็™บ่‚ฒใ™ใ‚‹่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚" + "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆHPA๏ผ‰ใฏใ€L-ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ‚’L-ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ™ใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–ๅๅฟœใฎ็•ฐๅธธใซใ‚ˆใ‚Š่ก€ๆผฟไธญPheๅ€คใŒ2mg/dlใ‚’่ถŠใˆใ‚‹็Šถๆ…‹ใงใ€ใใฎๅŽŸๅ› ใซใ‚ˆใ‚Šใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใฎ็•ฐๅธธใจใใฎ่ฃœ้…ต็ด ใฎใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎไปฃ่ฌ็•ฐๅธธใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผˆBH4ๆฌ ๆ็—‡ใฏๅˆฅ้ …ๅ‚็…ง๏ผ‰ใ€‚PKUใฏใ€่จบๆ–ญๆ™‚ใฎ่ก€ๆผฟไธญPheๅ€คใซใ‚ˆใ‚Šๅคๅ…ธ็š„PKU๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใ€่ปฝ็—‡PKU๏ผˆ10mg/dlไปฅไธŠ20mg/dl ๆœชๆบ€๏ผ‰ใ€่ปฝ็—‡HPA๏ผˆ10mg/dlๆœชๆบ€๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚BH4ๅๅฟœๆ€งPAHๆฌ ๆ็—‡ใฏใ€PKUใจๅŒใ˜PAHใฎ็•ฐๅธธใงใ‚ใ‚‹ใŒ่ฃœ้…ต็ด BH4ใซๅๅฟœใ—ใฆ่ก€ไธญPheๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚BH4ๅๅฟœๆ€งPKU ใ‚„BH4ๅๅฟœๆ€งHPAใจใ‚ˆใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200097NANDO:2200467
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_083_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_001_01.pdf
rdfs:label - "Gangliocytoma" + "Phenylketonuria" @en
rdfs:label - "็ฅž็ตŒ็ฏ€่…ซ" + "ใตใ‡ใซใ‚‹ใ‘ใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_083/http://nanbyodata.jp/ontology/NANDO_1200784
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
skos:altLabel - "็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซ" + "HPA" + @en
+ skos:altLabel + "Hyperphenylalaninemia" + @en
+ skos:altLabel + "PKU" + @en
+ skos:altLabel + "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016730http://purl.obolibrary.org/obo/MONDO_0009861
skos:prefLabel - "็ฅž็ตŒ็ฏ€่…ซ" + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200098 +
http://nanbyodata.jp/ontology/NANDO_2200468 (rdf:type owl:Class @@ -97523,67 +150940,91 @@

hasNotificationNumber62hasNotificationNumber8
dcterms:description - "่ƒŽๅ…ๆœŸใฎ่„Š็ดขใซ็”ฑๆฅใ™ใ‚‹่…ซ็˜ใงใ€็ฒ˜ๆถฒ็ŠถๅŸบ่ณชใŒ่ฑŠๅฏŒใง็ฉบ่ƒž็Šถ็ดฐ่ƒžใŒ็ญ–็Šถ้…ๅˆ—ใ‚’ๅ‘ˆใ—ใ€่…ซ็˜ๅ‘จๅ›ฒใฎๅฑ€ๆ‰€ใ‚’็ ดๅฃŠๆ€งใซ็™บ่‚ฒใ™ใ‚‹็‰นๅพดใ‚’ๆŒใคใ€‚" + "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸ ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณ ใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€ IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃ ๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200098NANDO:2200468
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_084_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_002_01.pdf
rdfs:label - "Gangliocytoma" + "Tyrosinemia type 1" @en
rdfs:label - "่„Š็ดข่…ซ" + "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_084/http://nanbyodata.jp/ontology/NANDO_1200788
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3148
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:altLabel + "Tyrosinaemia type 1" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016730http://purl.obolibrary.org/obo/MONDO_0010161
skos:prefLabel - "่„Š็ดข่…ซ" + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200099 +
http://nanbyodata.jp/ontology/NANDO_2200469 (rdf:type owl:Class @@ -97591,62 +151032,91 @@

hasNotificationNumber36hasNotificationNumber9
dcterms:description - "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญ ใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒ ใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€II ๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒ ไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃ ใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200099NANDO:2200469
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_003_01.pdf
rdfs:label - "primitive neuroectodermal tumour" + "Tyrosinemia type 2" @en
rdfs:label - "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_041/http://nanbyodata.jp/ontology/NANDO_1200789
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3147
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:altLabel + "Tyrosinaemia type 2" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010160
skos:prefLabel - "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200100 +
http://nanbyodata.jp/ontology/NANDO_2200470 (rdf:type owl:Class @@ -97654,55 +151124,91 @@

hasNotificationNumber36hasNotificationNumber10
+ dcterms:description + "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200100NANDO:2200470
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_05_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_004_01.pdf
rdfs:label - "Primitive neuroectodermal tumour of the central nervous system" + "Tyrosinemia type 3" @en
rdfs:label - "ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_05_041/http://nanbyodata.jp/ontology/NANDO_1200790
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3149
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200099http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:altLabel + "Tyrosinaemia type 3" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010162
skos:prefLabel - "ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜" + "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200101 +
http://nanbyodata.jp/ontology/NANDO_2200471 (rdf:type owl:Class @@ -97710,86 +151216,86 @@

hasNotificationNumber49hasNotificationNumber11
dcterms:description - "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(AT/RT)ใฏไธญๆžข็ฅž็ตŒ็ณปใซ็™บ็”Ÿใ™ใ‚‹ๆฅตใ‚ใฆๆ‚ชๆ€งๅบฆใฎ้ซ˜ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚1987ๅนดใซไธญๆžข็ฅž็ตŒ็ณปใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ—ใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ€2000ๅนดใ‹ใ‚‰ๆญฃๅผใซWHOๅˆ†้กžใซๅ–ใ‚Šๅ…ฅใ‚Œใ‚‰ใ‚ŒใŸๆ–ฐใ—ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚WHOๅˆ†้กžใงใฏGrade IVใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅพ“ๆฅใฏ้ซ„่Šฝ่…ซใ‚„ไธŠ่กฃ่…ซใ€่„ˆ็ตกๅข็™Œใชใฉใจใ—ใฆ่จบๆ–ญใƒปๆฒป็™‚ใ•ใ‚Œใฆใ„ใŸใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…็–ซ็ต„็น”ๆŸ“่‰ฒใง่…ซ็˜็ดฐ่ƒžใŒINI-1้™ฐๆ€งใจใชใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" + "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ใฏ1ๅž‹ใจ2ๅž‹ใฎ2ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1ๅž‹ใฏใƒ—ใƒญใƒชใƒณ้…ธๅŒ–้…ต็ด ใฎ็•ฐๅธธใ€2ๅž‹ใฏP5C (pyrroline-5-carboxylic acid)่„ฑๆฐด็ด ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚Šใ€่ก€ไธญใฎใƒ—ใƒญใƒชใƒณใŒไธŠๆ˜‡ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200101NANDO:2200471
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_086_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_005_01.pdf
rdfs:label - "Atypical teratoid, rhabdoid tumour" + "Hyperprolinemia" @en
rdfs:label - "็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" + "ใ“ใ†ใทใ‚ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_086/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00190
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
skos:altLabel - "AT/RT" + "Hyperprolinaemia" @en
- skos:altLabel - "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012252
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020560http://purl.obolibrary.org/obo/MONDO_0023419
skos:prefLabel - "็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜" + "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + "Hyperimidodipeptiduria" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200102 +
http://nanbyodata.jp/ontology/NANDO_2200472 (rdf:type owl:Class @@ -97797,69 +151303,91 @@

hasNotificationNumber48hasNotificationNumber18
dcterms:description - "ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜ใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹ๅ†…ใ‚„่„ŠๆคŽ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚" + "ใƒšใƒ—ใƒใƒ‰ใฎๅŠ ๆฐดๅˆ†่งฃใซใŠใ„ใฆใ€Cๆœซ็ซฏใซใƒ—ใƒญใƒชใƒณใ€ใพใŸใฏใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‚’ๆœ‰ใ™ใ‚‹ใ‚ธใƒšใƒ—ใƒใƒ‰ใ€ใ‚ชใƒชใ‚ดใƒšใƒ—ใƒใƒ‰ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200102NANDO:2200472
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_087_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_006_01.pdf
rdfs:label - "Malignant neurinoma" + "Prolidase deficiency" @en
rdfs:label - "ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ" + "ใทใ‚ใ‚Šใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_087/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1200
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01119
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
skos:altLabel - "ๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008221
skos:prefLabel - "ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ" + "ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200103 +
http://nanbyodata.jp/ontology/NANDO_2200473 (rdf:type owl:Class @@ -97867,72 +151395,84 @@

hasNotificationNumber55hasNotificationNumber20
dcterms:description - "ๅˆ†ๅŒ–ใ—ใŸใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ—ใฆใฏ้ ญ่“‹ๅ†…ใ‚„่„ŠๆŸฑ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ๆœซๆขข็ฅž็ตŒใซ้€ฃ็ถšใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใง่ขซ่†œใซ่ฆ†ใ‚ใ‚ŒใŸ่…ซ็˜คใ‚’ๅฝขๆˆใ—ใ€ๆ ธใฎๆฃš็Šถ้…ๅˆ—ใ‚„็ดฐ่ƒžใฎ็ฒ—ๅฏ†้…ๅˆ—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + "ๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใ€ใƒใƒชใƒณใฎไปฃ่ฌใซ็”ฑๆฅใ™ใ‚‹ฮฑ-ใ‚ฑใƒˆ้…ธใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่กŒใ†ใ€ๅˆ†ๆž้Ž–ฮฑ-ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็”Ÿ้ ปๅบฆใฏ็ด„50ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆไธญๆžข็ฅž็ตŒ้šœๅฎณใจใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’่ชใ‚ใ‚‹ใ€‚็”ŸๅพŒ1-2้€ฑ้–“ใง็™บ็—‡ใ™ใ‚‹ๅคๅ…ธๅž‹ใจใ€่‡จๅบŠ็—‡็ŠถใŒใ‚„ใ‚„่ปฝๅบฆใชไธญ้–“ๅž‹ใ€้€šๅธธใฏ็„ก็—‡็Šถใงๆ€ฅๆ€งๅข—ๆ‚ชใ‚’่ตทใ“ใ™้–“ๆฌ ๅž‹ใชใฉใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200103NANDO:2200473
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_088_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_007_01.pdf
rdfs:label - "Neurinoma" + "maple syrup urine disease" @en
rdfs:label - "็ฅž็ตŒ้ž˜่…ซ" + "ใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_088/http://nanbyodata.jp/ontology/NANDO_1200791
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2548
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002546 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_007/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100160
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008075http://purl.obolibrary.org/obo/MONDO_0009563
skos:prefLabel - "็ฅž็ตŒ้ž˜่…ซ" + "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200104 +
http://nanbyodata.jp/ontology/NANDO_2200474 (rdf:type owl:Class @@ -97940,67 +151480,79 @@

hasNotificationNumber51hasNotificationNumber19
dcterms:description - "ๅฅ‡ๅฝข่…ซใฏใ€้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜๏ผˆgerm cell tumor๏ผ‰ใฎ๏ผ‘็จฎใงใ‚ใ‚Šใ€2007ๅนดใฎWHO็—…็†ๅˆ†้กžใงใฏใ€ใ•ใ‚‰ใซโ‘  ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ๏ผˆmature teratoma๏ผ‰โ‘ก ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ(immature teratoma)โ‘ข ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ๏ผˆteratoma with malignant transformation๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‰่ƒš่‘‰ใฎๆˆๅˆ†ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใžใ‚Œใฎๆˆๅˆ†ใŒใ™ในใฆๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๅ…จไฝ“ใพใŸใฏไธ€้ƒจใŒๆœช็†Ÿใชๅฝขๆ…‹ใ‚’็คบใ™ใ‚‚ใฎใฏๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๆˆ็†Ÿๅฅ‡ๅฝข่…ซใฎไธ€้ƒจใŒๆ‚ชๆ€งใฎ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใฏๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่…ซ็˜ใฏใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅฅ‡ๅฝข่…ซไปฅๅค–ใฎไป–ใฎ่ƒš็ดฐ่ƒž่…ซ็˜ใจๆททๅœจใ—ใ€ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่„ณใƒป่„Š้ซ„ไปฅๅค–ใฎๅฅ‡ๅฝข่…ซใจๅŒๆง˜ใฎ็—…็†็ต„็น”ๆ‰€่ฆ‹ใ‚’ใจใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใชใฉใฎ็›ธ้•ใ‹ใ‚‰ใ€่จบๆ–ญใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚Šใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ไนณๅนผๅ…ใงใฎ็™บ็—‡ใฏใ€ๅคšใใฏๅ…ˆๅคฉๆ€ง่„ณ่…ซ็˜ใงใ‚ใ‚Šๆˆ็†Ÿๅฅ‡ๅฝข่…ซใŒๅคšใ„ใ€‚ๅนด้•ทๅ…ใ€ๆˆไบบใงใฏใปใจใ‚“ใฉใŒๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใฎไธ€้ƒจใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" + "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใƒกใƒใ‚ชใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใŒ่ก€ไธญใซ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใฎ้‡ๅˆไฝ“ใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณใŒๅฐฟไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚็‹ญ็พฉใฎใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใ‚ทใ‚นใ‚ฟใƒใ‚ชใƒ‹ใƒณฮฒๅˆๆˆ้…ต็ด (CBS)ๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใ“ใ‚Œใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200104NANDO:2200474
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_008_01.pdf
rdfs:label - "Teratoma of the central nervous system" + "Homocystinuria" @en
rdfs:label - "ๅฅ‡ๅฝข่…ซ" + "ใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00183
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002718http://purl.obolibrary.org/obo/MONDO_0004737
skos:prefLabel - "ๅฅ‡ๅฝข่…ซ" + "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200105 +
http://nanbyodata.jp/ontology/NANDO_2200475 (rdf:type owl:Class @@ -98008,70 +151560,86 @@

hasNotificationNumber51hasNotificationNumber12
+ dcterms:description + "ใƒกใƒใ‚ชใƒ‹ใƒณใ‚ขใƒ‡ใƒŽใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๆŒ็ถšๆ€งใฎ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๅ˜็‹ฌใฎไธŠๆ˜‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ(AD)ใ™ใ‚‹็—…ๅž‹ใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๆฟƒๅบฆใŒ10mg/dlไปฅไธ‹ใงใ‚ใ‚Š่‡จๅบŠ็š„ใซ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ(AR)ใ™ใ‚‹็—…ๅž‹ใงใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณใฎ้ซ˜ๅ€ค๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใŒๆŒ็ถšใ—่„ฑ้ซ„ใ‚’ไผดใ†ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹1)" + @ja
dcterms:identifier2200105NANDO:2200475
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_009_01.pdf
rdfs:label - "mature teratoma" + "Hypermethioninemia" @en
rdfs:label - "ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" + "ใ“ใ†ใ‚ใกใŠใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00184
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200104 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_009/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003517 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100160
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003733 + skos:altLabel + "Hypermethioninaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003820http://purl.obolibrary.org/obo/MONDO_0000351
skos:prefLabel - "ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" + "้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - - + + - - + + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200106 +
http://nanbyodata.jp/ontology/NANDO_2200476 (rdf:type owl:Class @@ -98079,75 +151647,98 @@

hasNotificationNumber51hasNotificationNumber16
+ dcterms:description + "ไธญๆžข็ฅž็ตŒ็ณปใ€่‚่‡“ใ€่…Ž่‡“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅˆ†ๅธƒใ™ใ‚‹ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎ้บไผ็š„ใชๆฌ ๆใฎใŸใ‚ใซใ€่ก€ๆผฟใ‚„้ซ„ๆถฒใชใฉใฎไฝ“ๆถฒไธญใซๅคง้‡ใฎใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ทใƒณใฏไธญๆžข็ฅž็ตŒ็ณปใง็ฅž็ตŒไผ้”็‰ฉ่ณชใจใ—ใฆๅƒใใŸใ‚ใ€ใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใง้‡็ฏคใช็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚" + @ja
dcterms:identifier2200106NANDO:2200476
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_010_01.pdf
rdfs:label - "immature teratoma" + "Nonketotic hyperglycinemia" @en
rdfs:label - "ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" + "ใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/http://nanbyodata.jp/ontology/NANDO_1200984
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200104 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4399
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003514 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_010/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003735 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100160
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018369 + skos:altLabel + "NKH" + @en
+ skos:altLabel + "Nonketotic hyperglycinaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024746http://purl.obolibrary.org/obo/MONDO_0011612
skos:prefLabel - "ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ" + "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200107 +
http://nanbyodata.jp/ontology/NANDO_2200477 (rdf:type owl:Class @@ -98155,60 +151746,91 @@

hasNotificationNumber51hasNotificationNumber3
+ dcterms:description + "ใ‚ขใƒณใƒขใƒ‹ใ‚ขใฏ่‚่‡“ใซใŠใ„ใฆๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใ‚’็ตŒใฆใ€็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎๅๅฟœใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1 (CPS1)ใงใ‚ใ‚‹ใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ(NAG)ใฏใ€CPS1ใฎๆดปๆ€งๅŒ–ใซๅƒใใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด (NAGS)ๆฌ ๆ็—‡ใงใฏใ€NAGใฎๅˆๆˆไฝŽไธ‹ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200107NANDO:2200477
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_089_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_011_01.pdf
rdfs:label - "teratoma with malignant transformation" + "N-acetylglutamate synthetase deficiency" @en
rdfs:label - "ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ" + "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_089/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2365
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01032
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200104http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:altLabel + "NAGS deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006444http://purl.obolibrary.org/obo/MONDO_0009377
skos:prefLabel - "ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ" + "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200108 +
http://nanbyodata.jp/ontology/NANDO_2200478 (rdf:type owl:Class @@ -98216,62 +151838,86 @@

hasNotificationNumber61hasNotificationNumber5
dcterms:description - "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜(germ cell tumors, GCT)ใฏใ€ๆพๆžœไฝ“้ƒจใ‚„้žไธŠ้ƒจใซ็™บ็—‡ใ™ใ‚‹ๆง˜ใ€…ใช่…ซ็˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ๅคšๆง˜ใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ใฏ2007ๅนดใฎWHOใฎ็—…็†ๅญฆ็š„ๅˆ†้กžใงใฏๆฌกใฎ6ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚โ‘  ใ‚ธใƒฃใƒผใƒŸใƒŽใƒผใƒž๏ผˆ่ƒš่…ซ๏ผ‰(germinoma)โ‘ก ่ƒŽๅ…ๆ€ง็™Œ(embryonal carcinoma)โ‘ข ๅต้ป„ๅšข่…ซ็˜(yolk sac tumor) โ‘ฃ ็ตจๆฏ›็™Œ(choriocarcinoma)โ‘ค ๅฅ‡ๅฝข่…ซ(teratoma)๏ผˆๆˆ็†Ÿๅฅ‡ๅฝข่…ซmature teratoma/ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซimmature teratoma/ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซteratoma with malignant transforamtion๏ผ‰โ‘ฅ ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜(mixed germ cell tumors)ๆททๅˆๆ€ง่…ซ็˜ใฏใ€่…ซ็˜ๅ†…ใซไธŠ่จ˜ใฎ โ‘  ใ€œ โ‘ค ใฎ่…ซ็˜ใŒ2็จฎ้กžไปฅไธŠๆททๅœจใ—ใฆ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅค–ใซใ‚‚็—…็†็ต„็น”ใฎ้กžไผผใ—ใŸ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใฎ้•ใ„ใ‹ใ‚‰้ ญ่“‹ๅค–ใฎ่…ซ็˜ใจใฏ็•ฐใชใฃใŸ่จบๆ–ญใƒปๆฒป็™‚ๆ–นๆณ•ใŒใจใ‚‰ใ‚Œใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚" + "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎใ‚นใƒ†ใƒƒใƒ—ใงใ‚ใ‚‹ใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ใฎใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1(CPS1)ใงใ‚ใ‚‹ใ€‚CPS1ๆฌ ๆ็—‡ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200108NANDO:2200478
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_090_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_012_01.pdf
rdfs:label - "Intracranial germ cell tumour" + "Carbamoylphosphate synthetase deficiency" @en
rdfs:label - "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜" + "ใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_090/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2364
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:altLabel + "carbamyl phosphate synthetase deficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009376
skos:prefLabel - "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜" + "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "Ornithine transcarbamylase deficiency" + @en + "ใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200109 +
http://nanbyodata.jp/ontology/NANDO_2200479 (rdf:type owl:Class @@ -98279,62 +151925,84 @@

hasNotificationNumber69hasNotificationNumber4
dcterms:description - "้ ญ่“‹ๅ†…ใ‚ใ‚‹ใ„ใฏ่„ŠๆŸฑ็ฎกๅ†…ใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ๆ€ง็—…ๅค‰ใฏใ€ๅŽŸ็™บๆ€งใ€่ปข็งปๆ€งใซ้–ขใ‚ใ‚‰ใšใ€ใพใŸๆ‚ชๆ€งๅบฆใซ้–ขใ‚ใ‚‰ใšไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ™ใ‚‹ใ€‚" + "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไบŒๆฎต้šŽ็›ฎใฎๅๅฟœ๏ผˆใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธใจใ‚ชใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ทใƒˆใƒซใƒชใƒณใ‚’ๅˆๆˆ๏ผ‰ใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผ(OTC)ใงใ‚ใ‚‹ใ€‚OTCๆฌ ๆ็—‡ใฏๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฎไธญใงใฏๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ€‚X้€ฃ้Ž–ๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅฅณๆ€งใงใ‚‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใฎ็จ‹ๅบฆใซใ‚ˆใฃใฆๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰็„ก็—‡็Šถไพ‹ใพใงๆง˜ใ€…ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200109NANDO:2200479
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_01_06_091_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_013_01.pdf
rdfs:label - "70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" - @ja
rdfs:label - "Other tumours of the central nervous system" - @en
+ rdfs:label + "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/01_06_091/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3533
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00187
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100007http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010703
skos:prefLabel - "70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜" + "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200110 +
http://nanbyodata.jp/ontology/NANDO_2200480 (rdf:type owl:Class @@ -98342,79 +152010,107 @@

hasNotificationNumber23hasNotificationNumber1
dcterms:description - "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(congenital nephrotic syndrome๏ผšCNS)ใจใใ‚Œไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(infantile NS๏ผšINS)ใจใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽCNSใ‚’ไปฃ่กจใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (congenital nephrotic syndrome of the Finnish type: CNF)ใงใ‚ใ‚‹(1, 2)ใ€‚" + "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไธ‰ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด (ASS)ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒซใƒชใƒณใจใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‹ใ‚‰ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ๅˆๆˆใ™ใ‚‹ใ€‚ASSๆฌ ๆ็—‡ใงใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใจใจใ‚‚ใซใ€่ก€ไธญใ‚ทใƒˆใƒซใƒชใƒณใŒ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹(CTLN1)ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200110NANDO:2200480
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_014_01.pdf
rdfs:label - "Congenital nephrotic syndrome of the Finnish type" + "Argininosuccinate synthetase deficiency" @en
rdfs:label - "ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2718http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1963
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_001/https://www.shouman.jp/disease/details/08_01_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100009http://nanbyodata.jp/ontology/NANDO_2100160
skos:altLabel - "CNF" + "CTLN1" + @en
+ skos:altLabel + "CTLN1" + @ja
+ skos:altLabel + "Citrullinaemia type 1" @en
+ skos:altLabel + "ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009732http://purl.obolibrary.org/obo/MONDO_0008988
skos:prefLabel - "ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200111 +
http://nanbyodata.jp/ontology/NANDO_2200481 (rdf:type owl:Class @@ -98422,79 +152118,84 @@

hasNotificationNumber22hasNotificationNumber2
dcterms:description - "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎใ†ใก๏ผŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค๏ผˆINS๏ผ‰ใซๅˆ†้กžใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใŒ็™บ็—‡ใ—๏ผŒ็™บ็—‡ๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซๆœซๆœŸ่…Žไธๅ…จใซใชใ‚‹๏ผŽใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ใฎๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ็•ฐใชใ‚Š๏ผŒ็พŠๆฐดไธญใฎฮฑใƒ•ใ‚งใƒˆใƒ—ใƒญใƒ†ใ‚คใƒณใ‚„่ƒŽ็›ค้‡้‡ใฏ้€šๅธธ๏ผŒๆญฃๅธธใงใ‚ใ‚‹ใ€‚" + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡(ASA)ใฏใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆ†่งฃ้…ต็ด (AL)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๅ››ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒALใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใจใƒ•ใƒžใƒซ้…ธใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200111NANDO:2200481
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_015_01.pdf
rdfs:label - "Diffuse mesangial sclerosis" + "Argininosuccinic aciduria" @en
rdfs:label - "ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡" + "ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2719http://nanbyodata.jp/ontology/NANDO_1200806
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_002/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1786
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100009 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_015/
- skos:altLabel - "DMS" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100160
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009733http://purl.obolibrary.org/obo/MONDO_0008815
skos:prefLabel - "ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡" + "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200112 +
http://nanbyodata.jp/ontology/NANDO_2200482 (rdf:type owl:Class @@ -98502,74 +152203,91 @@

hasNotificationNumber21hasNotificationNumber6
dcterms:description - "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡ๅ€™ๅˆ†้กžใซใฆใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซๅ…‰ๅญฆ้ก•ๅพฎ้กไธŠใฏใปใจใ‚“ใฉๅค‰ๅŒ–ใ‚’่ชใ‚ใชใ„ (minor glomerular abnormalities) ็–พๆ‚ฃใ‚’๏ผŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (minimal change nephrotic syndrome: MCNS) ใจใ—ใฆใ„ใ‚‹ใ€‚๏ผ‘ๅนด้–“ใซๅฐๅ…10ไธ‡ไบบใซ2๏ฝž5ไบบใŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็™บ็—‡ใ—๏ผŒๅฐๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ็ด„90%ใฏๅŽŸๅ› ไธๆ˜Žใช็‰น็™บๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒใ•ใ‚‰ใซใใฎ็ด„90๏ผ…ใŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" + "่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‚’็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ™ใ‚‹ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€็ต‚ๆฎต้šŽใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ‚’ๅฐฟ็ด ใจใ‚ชใƒซใƒ‹ใƒใƒณใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใฎ้šœๅฎณใซใ‚ˆใ‚Š่ก€ไธญใƒปๅฐฟไธญใซใ‚ขใƒซใ‚ฎใƒ‹ใƒณไธŠๆ˜‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200112NANDO:2200482
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_016_01.pdf
rdfs:label - "Minimal change nephrotic syndrome" + "Hyperargininemia" @en
rdfs:label - "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "ใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_003/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1785
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00186
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100009http://nanbyodata.jp/ontology/NANDO_2100160
skos:altLabel - "MCNS" + "Hyperargininaemia" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006835http://purl.obolibrary.org/obo/MONDO_0008814
skos:prefLabel - "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200113 +
http://nanbyodata.jp/ontology/NANDO_2200483 (rdf:type owl:Class @@ -98577,79 +152295,79 @@

hasNotificationNumber20hasNotificationNumber14
dcterms:description - "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–ใฏใ€ๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใจใ„ใ†็—…็†ๅฝขๆ…‹ๅƒใ‚’่กจ็พใ™ใ‚‹็”จ่ชžใงใ‚ใ‚Šใ€่…Ž็šฎ่ณชๆทฑๅฑค(็šฎ้ซ„ๅขƒ็•Œ)ใฎไธ€้ƒจใฎ็ณธ็ƒไฝ“(ๅทฃ็Šถ)ใซๅˆ†็ฏ€็Šถใฎ็กฌๅŒ–ใ‚’่ชใ‚ใ‚‹ใ“ใจใง็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็ณธ็ƒไฝ“ๆ•ฐใฎ50๏ผ…ไปฅไธ‹ใซใ€ๅˆ†็ฏ€ๆ€ง(50๏ผ…/็ณธ็ƒไฝ“ไปฅไธ‹)ใฎๆฏ›็ดฐ่ก€็ฎก่™š่„ฑ(ใจๅŸบ่ณชใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ“ใจใฎ2ใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็ณธ็ƒไฝ“็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎไธญใซใ€่‡จๅบŠ็š„ใซ้ซ˜ๅบฆใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ‚’ไผดใ„ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงใ€ๅพใ€…ใซ่…ŽๆฉŸ่ƒฝ้šœๅฎณใŒ้€ฒๅฑ•ใ™ใ‚‹็–พๆ‚ฃ็พคใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹FSGSใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚็พๅœจใงใฏใ€FSGSใฎไธญใซใฏ็ต„็น”ๅญฆ็š„ใซๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅซใพใ‚Œใ€ใพใŸใ€ๅŽŸๅ› ใ‚„็—…ๆ…‹ใŒๆ˜Žใ‚‰ใ‹ใชไบŒๆฌกๆ€งใฎFSGSใ‚‚ๅŠ ใ‚ใ‚Šใ€่ค‡้›‘ใช็–พๆ‚ฃ็พคใซใ‚ˆใ‚Šๆง‹็ฏ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2004ๅนดใซใ‚ณใƒญใƒณใƒ“ใ‚ขๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€FSGSใฏ่‡จๅบŠ็š„ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ€้€šๅธธใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใ€ๅ…‰้ก•็š„ใซใฏ็ณธ็ƒไฝ“ใซๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็กฌๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ€้›ป้ก•็š„ใซๅบƒ็ฏ„ใช็ณธ็ƒไฝ“ไธŠ็šฎ็ดฐ่ƒžใฎ่ถณ็ช่ตทใฎๆถˆๅคฑ(effacement)ใ‚’ๅ‘ˆใ™ใ‚‹่‡จๅบŠ็—…็†ๅญฆ็š„็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚" + "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใซใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ทใƒˆใƒชใƒณๆฌ ๆใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผˆneonatal intrahepatic cholestasis caused by citin deficiency: NICCD๏ผ‰ใจๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆadult-onset type 2 citrullinemia: CTLN2๏ผ‰ใฎ2ใคใฎๅนด้ฝขไพๅญ˜ๆ€งใฎ่‡จๅบŠๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹1)2)ใ€‚ใ“ใฎ้–“ใซใ€Œ่ฆ‹ใ‹ใ‘ไธŠๅฅๅบทใ€ใช้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใŒใ‚ใ‚‹ใ€‚ใ“ใฎๆ™‚ๆœŸใฎ็—…ๆ…‹ใƒป็—…ๅž‹ใ‚’FTTDCD (Failure to thrive and dyslipidemia caused by citrin deficiency)ใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹3)ใ€‚" @ja
dcterms:identifier2200113NANDO:2200483
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_017_01.pdf
rdfs:label - "Focal segmental glomerulosclerosis" + "Citrin deficiency" @en
rdfs:label - "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" + "ใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00626http://nanbyodata.jp/ontology/NANDO_1200978
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_004/https://www.shouman.jp/disease/details/08_01_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100009
- skos:altLabel - "FSGS" - @enhttp://nanbyodata.jp/ontology/NANDO_2100160
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005363http://purl.obolibrary.org/obo/MONDO_0016602
skos:prefLabel - "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡" + "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200114 +
http://nanbyodata.jp/ontology/NANDO_2200484 (rdf:type owl:Class @@ -98657,67 +152375,84 @@

hasNotificationNumber24
- dcterms:description - "่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็ณธ็ƒไฝ“ๅŸบๅบ•่†œไธŠ็šฎไธ‹ใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใจใ“ใ‚Œใซๅผ•ใ็ถšใ„ใฆ่ตทใ“ใ‚‹็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎๅๅฟœๆ€งๅค‰ๅŒ–๏ผˆใณใพใ‚“ๆ€ง่‚ฅๅŽš๏ผŒใ‚นใƒ‘ใ‚คใ‚ฏๅฝขๆˆ๏ผŒ็‚นๅˆปๅƒ๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒ่ฃœไฝ“ๆดปๆ€งๅŒ–ใชใฉใฎ็พ่ฑกใฏ็‚Ž็—‡ใฎไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰๏ผŒWHOๅˆ†้กž1ใงใฏ่†œๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranous glomerulonephritis)ใจใ—ใฆใ„ใ‚‹2ใ€‚ๆˆไบบใงใฏ๏ผŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ20๏ฝž30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใŒ๏ผŒๅฐๅ…ใงใฏ็™บ็—‡้ ปๅบฆใฏๅฐ‘ใชใ„ใ€‚่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็‰น็™บๆ€งใจ่† ๅŽŸ็—…๏ผŒๆ„ŸๆŸ“็—‡๏ผŒ่–ฌๅ‰ค๏ผŒๆ‚ชๆ€ง่…ซ็˜ใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚" - @jahasNotificationNumber7
dcterms:identifier2200114NANDO:2200484
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_018_01.pdf
rdfs:label - "Membranous nephropathy" + "Hyperornithinemia" @en
rdfs:label - "่†œๆ€ง่…Ž็—‡" + "ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_005/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2783
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00189
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100009http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:altLabel + "Hyperornithinaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005376http://purl.obolibrary.org/obo/MONDO_0009796
skos:prefLabel - "่†œๆ€ง่…Ž็—‡" + "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" + @en + "ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใƒปใ“ใ†ใ‚ใ‚“ใ‚‚ใซใ‚ใ‘ใฃใ—ใ‚‡ใ†ใƒปใปใ‚‚ใ—ใจใ‚‹ใ‚Šใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200115 +
http://nanbyodata.jp/ontology/NANDO_2200485 (rdf:type owl:Class @@ -98725,62 +152460,100 @@

hasNotificationNumber25hasNotificationNumber7
dcterms:description - "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒ้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉ็š„่ฆๅ› ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซ๏ผŒๅพŒๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏๅŽŸ็™บๆ€ง็ณธ็ƒไฝ“็–พๆ‚ฃใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŸบ็คŽ็–พๆ‚ฃใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ—ใฆใ€€1.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚„ใ€2.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ใณใพใ‚“ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎไป–่กจ๏ผ‘ใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏใ€3.ใ€€ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ€4.ใ€€ๅทฃ็Šถๆ€งๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใ€5.ใ€€่†œๆ€ง่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใŒ๏ผŒใใฎไป–ใซ่กจ2ใซ็คบใ™็–พๆ‚ฃใŒๅŽŸๅ› ใจใ—ใฆๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅฐๅ…ใงใฏ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚ŽใพใŸ๏ผŒๆ„ŸๆŸ“็—‡ใซไผดใ†ๆ€ฅๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ๆˆไบบใงใฏ็ณ–ๅฐฟ็—…ๆ€ง่…Ž็—‡ใ‚„ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚่กจ1ใ€€ๅ…ˆๅคฉๆ€งใƒปไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅˆ†้กž่กจ2ใ€€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸ็–พๆ‚ฃ" + "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ HHH็—‡ๅ€™็พค๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅฑ€ๅœจใ™ใ‚‹ใ‚ชใƒซใƒ‹ใƒใƒณ่ผธ้€่›‹็™ฝ๏ผˆORNT1๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผ“ใคใฎๅพดๅ€™๏ผˆ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผ‰ใฎ้ ญๆ–‡ๅญ—ใ‚’ใจใฃใฆHHH็—‡ๅ€™็พคใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏSLC25A15ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹2)ใ€‚" @ja
dcterms:identifier2200115NANDO:2200485
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_018_01.pdf
rdfs:label - "1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" - @ja
rdfs:label - "Other nephrotic syndromes" - @en
+ rdfs:label + "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2381
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100009http://nanbyodata.jp/ontology/NANDO_2200484
+ skos:altLabel + "HHH" + @en
+ skos:altLabel + "HHH syndrome" + @en
+ skos:altLabel + "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009393
skos:prefLabel - "1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค" + "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200116 +
http://nanbyodata.jp/ontology/NANDO_2200486 (rdf:type owl:Class @@ -98788,65 +152561,93 @@

hasNotificationNumber25hasNotificationNumber7
+ dcterms:description + "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ก่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ๆœฌ็—‡ใฏใ‚ชใƒซใƒ‹ใƒใƒณฮด-ใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆOAT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้€ฒ่กŒๆ€งใฎ่„ˆ็ตก่†œ็ถฒ่†œๅค‰ๆ€งใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ณๅ›ž่ปข๏ผˆgyrus๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹็‰น็•ฐใช็œผๅบ•ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹1)ใ€‚" + @ja
dcterms:identifier2200116NANDO:2200486
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_018_01.pdf
rdfs:label - "Denys-Drash syndrome" + "Gyrate atrophy of choroid and retina" @en
rdfs:label - "Denys-Drash็—‡ๅ€™็พค" + "ใฎใ†ใ‹ใ„ใฆใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚‰ใใพใใ‚‚ใ†ใพใใ„ใ—ใ‚…ใใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1652http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2783
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/https://www.shouman.jp/disease/details/08_01_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200115http://nanbyodata.jp/ontology/NANDO_2200484
+ skos:altLabel + "GACR" + @en
+ skos:altLabel + "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008682http://purl.obolibrary.org/obo/MONDO_0009796
skos:prefLabel - "Denys-Drash็—‡ๅ€™็พค" + "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200117 +
http://nanbyodata.jp/ontology/NANDO_2200487 (rdf:type owl:Class @@ -98854,65 +152655,91 @@

hasNotificationNumber25hasNotificationNumber15
+ dcterms:description + "่…Žๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณๅฐ่…ธไธŠ็šฎใซๅฑ€ๅœจใ™ใ‚‹ไธญๆ€งใ‚ขใƒŸใƒŽ้…ธ่ผธ้€ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ€ๅฐฟไธญใธใฎๅคง้‡ใฎไธญๆ€งใ‚ขใƒŸใƒŽ้…ธๆŽ’ๆณ„ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใช่‡จๅบŠๅƒใฏใƒšใƒฉใ‚ฐใƒฉๆง˜็šฎ่†š็‚Žใ€ๅฐ่„ณๅคฑ่ชฟ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๅปถใชใฉใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถไพ‹ใ‚‚ๅคšใ„1)2)ใ€‚" + @ja
dcterms:identifier2200117NANDO:2200487
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_019_01.pdf
rdfs:label - "Pierson syndrome" + "Hartnup disease" @en
rdfs:label - "Pierson็—‡ๅ€™็พค" + "ใฏใƒผใจใชใฃใทใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6460http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2311
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00843
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200115http://nanbyodata.jp/ontology/NANDO_2100160
+ skos:altLabel + "Hartnup็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012184http://purl.obolibrary.org/obo/MONDO_0009324
skos:prefLabel - "Pierson็—‡ๅ€™็พค" + "ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—…" @ja
- - + - - + + + + + + - + - + - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200118 +
http://nanbyodata.jp/ontology/NANDO_2200488 (rdf:type owl:Class @@ -98920,107 +152747,84 @@

hasNotificationNumber25hasNotificationNumber21
+ dcterms:description + "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€่›‹็™ฝใฎใฒใจใคใงใ‚ใ‚‹ y+LAT-1( y+L amino acid transporter-1)ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚ŠใŠใ“ใ‚‹ใ€ใ“ใ‚Œใ‚‰ใฎ่†œ่ผธ้€้šœๅฎณใ‚’ใŠใ‚‚ใช็—…ๆ…‹ใจใ™ใ‚‹ใ€‚ไธŠ่จ˜ใ‚ขใƒŸใƒŽ้…ธใฎใ€ๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚" + @ja
dcterms:identifier2200118NANDO:2200488
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_020_01.pdf
rdfs:label - "ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200115
- - - - - - - - - - - - - - + "Lysinuric protein intolerance" + @en + "ใ‚Šใ˜ใ‚“ใซใ‚‡ใ†ใ›ใ„ใŸใ‚“ใฑใใตใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira + "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" + @ja - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200119 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber25
- dcterms:identifier2200119
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label - "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡" - @ja
rdfs:label - "Junctional epidermolysis bullosa, Herlitz-type" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2168http://nanbyodata.jp/ontology/NANDO_1200809
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2093
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200115http://nanbyodata.jp/ontology/NANDO_2100160
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009182http://purl.obolibrary.org/obo/MONDO_0009109
skos:prefLabel - "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200120 +
http://nanbyodata.jp/ontology/NANDO_2200489 (rdf:type owl:Class @@ -99028,60 +152832,84 @@

hasNotificationNumber25hasNotificationNumber13
+ dcterms:description + "ใ‚ทใ‚นใƒใƒณใจไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€็ณปใฎ้บไผ็š„็•ฐๅธธใŒๅŽŸๅ› ใจใชใ‚Šใ€ๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใ‚ทใ‚นใƒใƒณใฎๅ†ๅธๅŽ้šœๅฎณใŒ่ตทใ“ใ‚Šๅฐฟ่ทฏๅ†…ใซใ‚ทใ‚นใƒใƒณ็ต็ŸณใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2200120NANDO:2200489
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_021_01.pdf
rdfs:label - "Galloway-Mowat syndrome" + "Cystinuria" @en
rdfs:label - "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒขใƒฏใƒˆ็—‡ๅ€™็พค" + "ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_01_006/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2047
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00901
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200115http://nanbyodata.jp/ontology/NANDO_2100160
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009627http://purl.obolibrary.org/obo/MONDO_0009067
skos:prefLabel - "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒขใƒฏใƒˆ็—‡ๅ€™็พค" + "ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + "1ใ‹ใ‚‰21ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ใฟใฎใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200121 +
http://nanbyodata.jp/ontology/NANDO_2200490 (rdf:type owl:Class @@ -99089,67 +152917,69 @@

hasNotificationNumber29hasNotificationNumber22
dcterms:description - "IgA่…Ž็—‡ใฏ๏ผŒๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใก๏ผŒไธปใซๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgAใŒๅ…็–ซ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใ€่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซๆฒˆ็€ใ—๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใƒปๆ‹กๅคงใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใ‚„่ผธ้€ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹1ใ€œ21ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎใ‚ขใƒŸใƒŽ้…ธใฎไธŠๆ˜‡ใ‚„ไฝŽไธ‹ใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไฝ†ใ—ใ€ๅคš่‡“ๅ™จไธๅ…จใชใฉใฎ็•ฐๅŒ–ไบข้€ฒใซไผดใ†ไบŒๆฌก็š„ใชใ‚ขใƒŸใƒŽ้…ธใƒ—ใƒญใƒ•ใ‚กใ‚คใƒซใฎ็•ฐๅธธใฏ้™คๅค–ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200121NANDO:2200490
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_022_01.pdf
rdfs:label - "IgA nephropathy" - @en
rdfs:label - "IgA่…Ž็—‡" + "1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorders of amino acid metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_007/https://www.shouman.jp/disease/details/08_01_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005342http://nanbyodata.jp/ontology/NANDO_2100160
skos:prefLabel - "IgA่…Ž็—‡" + "1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200122 +
http://nanbyodata.jp/ontology/NANDO_2200491 (rdf:type owl:Class @@ -99157,74 +152987,93 @@

hasNotificationNumber41hasNotificationNumber110
dcterms:description - "ใณใพใ‚“ๆ€งๅ…จ็ฏ€ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใ‚’ๅ‘ˆใ™ใ‚‹็—…ๅค‰ใงใ‚ใ‚‹ใ€‚MesPGNใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏๅคšๅฝฉใงใ‚ใ‚Š๏ผŒๅ…จ่บซๆ€ง็–พๆ‚ฃใซไผดใ†ใ‚‚ใฎใจไผดใ‚ใชใ„ใ‚‚ใฎ(ๅŽŸ็™บๆ€ง)ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰(1)ใ€‚MesPGNใฎใ†ใก๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ๆณ•ใซใฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgA๏ผŒ่ฃœไฝ“๏ผฃ3ใฎ้กž็ฒ’็Šถๆฒˆ็€ใŒไป–ใฎๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใ‚ˆใ‚Šใ‚‚ๅ„ชไฝใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒIgA่…Ž็—‡ใงใ‚ใ‚Š๏ผŒๅŽŸ็™บๆ€งใฎMesPGNใงใฏๆœ€ใ‚‚ๅคšใ„ใ€‚IgA่…Ž็—‡ไปฅๅค–ใฎใ‚‚ใฎใฏnon-IgA่…Ž็—‡ใจๅ‘ผใฐใ‚Œ๏ผŒIgM่…Ž็—‡ใ‚„C1q่…Ž็—‡๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ใŒ้™ฐๆ€งใฎใ‚‚ใฎใชใฉใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚่กจใ€€ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ(1)" + "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏไธŠใฎ้…ต็ด ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoAใƒ ใ‚ฟใƒผใ‚ผ (EC 5.4.99.2; MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚" @ja
dcterms:identifier2200122NANDO:2200491
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "Mesangial proliferative glomerulonephritis" + "Methylmalonic acidemia" @en
rdfs:label - "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_008/http://nanbyodata.jp/ontology/NANDO_1200793
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "MesPGN" + "MMA" + @en
+ skos:altLabel + "Methylmalonic acidaemia" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003139http://purl.obolibrary.org/obo/MONDO_0002012
skos:prefLabel - "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200123 +
http://nanbyodata.jp/ontology/NANDO_2200492 (rdf:type owl:Class @@ -99232,84 +153081,98 @@

hasNotificationNumber38hasNotificationNumber107
dcterms:description - "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranoproliferative glomerulonephritis: MPGN)ใฏ๏ผŒ็—…็†็ต„็น”ๆ‰€่ฆ‹ไธŠ๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽšใซใ‚ˆใ‚Š่ก€็ฎก่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใฎไธ€ๆฌกๆ€งMPGNใจ๏ผŒๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚ŠMPGNใซ้กžไผผใ—ใŸ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบŒๆฌกๆ€งMPGNใŒใ‚ใ‚‹ใ€‚ใ€€็—…็†ๅญฆ็š„ใซ๏ผŒใณใพใ‚“ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ใฎไบŒ้‡ๅŒ–ใŠใ‚ˆใณ๏ผŒๅ†…็šฎ็ดฐ่ƒžไธ‹ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒๅ†…็šฎไธ‹่…”ใธใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎ้–“ๅ…ฅใชใฉใฎ็‰นๅพดใ‚’ๆœ‰ใ—๏ผŒ่‡จๅบŠ็š„ใซๆŒ็ถšๆ€งใฎไฝŽ่ฃœไฝ“่ก€็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚้›ป้ก•็š„ใซ๏ผŒ้ซ˜้›ปๅญๅฏ†ๅบฆๆฒˆ็€็‰ฉใฎๅญ˜ๅœจ้ƒจไฝใ‚ˆใ‚Š๏ผŒโ… ๅž‹(ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ)๏ผŒIIๅž‹(ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ)๏ผŒIIIๅž‹ (ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ+ไธŠ็šฎไธ‹ๆฒˆ็€็‰ฉ+ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒIIๅž‹MPGNใฏ๏ผŒDDD๏ผˆdensedepositdisease๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œ่ฃœไฝ“ๅˆถๅพกๅ› ๅญ๏ผŒ็‰นใซfactor HใฎๆฉŸ่ƒฝ็•ฐๅธธใŒ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆœ€่ฟ‘ๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒ่‡จๅบŠๅƒใ‚‚็•ฐใชใ‚‹็‚นใŒๅคšใ„ใ€‚WHOๅˆ†้กž(1995ๅนด)ใงใฏโ… ๅž‹๏ผŒIIIๅž‹ใจใฏ๏ผŒๅˆฅๅ€‹ใฎ็–พๆ‚ฃใจใจใ‚‰ใˆใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผŒIIๅž‹MPGNใฏไปฃ่ฌๆ€ง่…Ž็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏใฎไธญ้–“ไปฃ่ฌ้šœๅฎณใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ(MIM #606054)ใ€‚" @ja
dcterms:identifier2200123NANDO:2200492
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_024_01.pdf
rdfs:label - "Membranoproliferative glomerulonephritis" + "Propionic acidemia" @en
rdfs:label - "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01726http://nanbyodata.jp/ontology/NANDO_1200792
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_009/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4415
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "MPGN" + "PA" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002461 + skos:altLabel + "Propionic acidaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018904http://purl.obolibrary.org/obo/MONDO_0011628
skos:prefLabel - "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200124 +
http://nanbyodata.jp/ontology/NANDO_2200493 (rdf:type owl:Class @@ -99317,74 +153180,84 @@

hasNotificationNumber34hasNotificationNumber108
dcterms:description - "่ก€็ฎก็‚Žใฎๅ›ฝ้š›ๅˆ†้กž(1)ใฎHenoch-Schรถnlein็ดซๆ–‘็—…ใฎๅฎš็พฉใฏ๏ผŒ่งฆ็Ÿฅๅฏ่ƒฝใช็ดซๆ–‘๏ผˆpalpable purpura๏ผ‰ใ‚’ๅฟ…้ ˆ้ …็›ฎใจใ—๏ผŒ็šฎ่†šใ‚‚ใ—ใใฏ่…Ž็ต„็น”ใธใฎIgAๆฒˆ็€่…น็—›๏ผŒ้–ข็ฏ€็‚Žใฎใ„ใšใ‚Œใ‹ใŒๅญ˜ๅœจใ™ใ‚‹็—…ๆ…‹ใจใ—ใฆใ„ใ‚‹ใ€‚ใ€€1837ๅนดใซSchรถnleinใŒ็ดซๆ–‘ใจ้–ข็ฏ€็—›ใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒ1874ๅนดใซHenochใŒๆถˆๅŒ–ๅ™จ็—‡็Šถใจ่…Ž้šœๅฎณใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒHenoch-Schรถnlein็ดซๆ–‘็—…(HSP)ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ๆ—ฅๆœฌใงๆฑŽ็”จใ•ใ‚Œใ‚‹ใ‚ขใƒฌใƒซใ‚ฎใƒผ็ดซๆ–‘็—…ใฏ๏ผŒOslerใŒใ“ใฎ็–พๆ‚ฃใŒใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใจไปฎ่ชฌใ‚’็ซ‹ใฆ๏ผŒๆๅ”ฑใ—ใŸใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ฏใƒˆใ‚คใƒ‰็ดซๆ–‘็—…๏ผˆanaphylactoid purpura๏ผ‰ใจใ„ใ†็”จ่ชžใฎ่จณใงใ‚ใ‚‹ใŒ๏ผŒ็–พๆ‚ฃใฎๆœฌไฝ“ใฏใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใงใชใๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒใ“ใฎ็”จ่ชžใฏ็”จใ„ใ‚‰ใ‚Œใชใใชใฃใฆใใฆใ„ใ‚‹ใ€‚็พๅœจใงใฏHenoch-Schรถnlein็ดซๆ–‘็—… (HSP)ใจใฎๅ‘ผใณๅใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ€‚ใ€€HSPใฏ๏ผŒๅฐๅ…ใฎ่ก€็ฎก็‚Žใจใ—ใฆใฏๅทๅดŽ็—…ใซๆฌกใ„ใงๅคšใ๏ผŒHSPใซๅˆไฝตใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Ž๏ผŒHenoch-Schรถnlein ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž (Henoch-Schรถnlein purpura nephritis :HSPN) ใฏๅฐๅ…ใฎไบŒๆฌกๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใชใ‹ใงๆœ€ใ‚‚ๅคšใ„ใ€‚ใ€€HSPNใฏ๏ผŒIgA่…Ž็—‡ใจๅŒๆง˜ใซ่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgAๅ„ชไฝใฎๆฒˆ็€ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚IgA่…Ž็—‡ใจ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใฎ้–“ใฎๅ”ฏไธ€ใฎ้•ใ„ใฏ๏ผŒ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใงใฏ็šฎ่†šใซ็‚น็Šถๅ‡บ่ก€ๆ–‘ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใงใ‚ใ‚Š๏ผŒ็ณธ็ƒไฝ“็—…ๅค‰ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ไธก็–พๆ‚ฃใจใ‚‚ใซ็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒHSPใฎ็šฎ่†š็—…ๅค‰ใฏๅพŒๆฏ›็ดฐ่ก€็ฎก็ดฐ้™่„ˆใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚Š๏ผŒ็—…ๅค‰้ƒจไฝใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ€‚" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200124NANDO:2200493
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_025_01.pdf
rdfs:label - "Henoch-Schonlein purpura nephritis" + "beta-ketothiolase deficiency" @en
rdfs:label - "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" + "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
+ rdfs:label + "ในใƒผใŸใ‘ใจใกใŠใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01767http://nanbyodata.jp/ontology/NANDO_1200987
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_010/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1731
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
- skos:altLabel - "HSPN" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008760
skos:prefLabel - "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž" + "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + + "Isovaleric acidaemia" + @en - +
http://nanbyodata.jp/ontology/nando#2200125 +
http://nanbyodata.jp/ontology/NANDO_2200494 (rdf:type owl:Class @@ -99392,84 +153265,91 @@

hasNotificationNumber33hasNotificationNumber96
dcterms:description - "็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(glomerular basement membrane:GBM๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใงใ‚ใ‚‹ๆŠ—GBMๆŠ—ไฝ“ใŒๅŽŸๅ› ใจใชใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚„ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis: RPGN)ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ1919ๅนดใซGoodpastureใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ“ใจใซใกใชใฟ๏ผŒGoodpastureโ€™s syndromeใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๆŠ—GBMๆŠ—ไฝ“ใซใ‚ˆใ‚Š่‚บๅ‡บ่ก€ใจRPGNใฎไธก่€…ใŒ็”Ÿใ˜ใŸๅ ดๅˆใซGoodpasture็—‡ๅ€™็พคใจๅ‘ผใถใ“ใจใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚’ไผดใ‚ใšใซRPGNใฎใฟใŒ็”Ÿใ˜ใŸใจใใฏ๏ผŒๆŠ—GBMๆŠ—ไฝ“ๅž‹่…Ž็‚Žใจๅ‘ผใถใ“ใจใŒๅคšใ„ใ€‚" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้…ต็ด ใงใ‚ใ‚‹ใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€IVD้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚Šใƒญใ‚คใ‚ทใƒณใซ็”ฑๆฅใ™ใ‚‹ใ‚คใ‚ฝๅ‰่‰้…ธใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ฐใƒชใ‚ทใƒณใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใ€็‰นใซ้ฃข้ค“ๆ™‚ใซ้ซ˜ๅบฆใฎ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚„ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ—ๆญปไบกใ—ใŸใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใŸใ‚Šใ™ใ‚‹ใŒใ€ๆ—ฉๆœŸใซ่จบๆ–ญใ—้ฉๅˆ‡ใซๆฒป็™‚ใ•ใ‚Œใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅ‘ฝไบˆๅพŒใ‚„็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200125NANDO:2200494
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_026_01.pdf
rdfs:label - "Goodpasture syndrome" + "Isovaleric acidemia" @en
rdfs:label - "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" + "ใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2292http://nanbyodata.jp/ontology/NANDO_1200798
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01721http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2466
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_011/https://www.shouman.jp/disease/details/08_02_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009303http://purl.obolibrary.org/obo/MONDO_0009475
skos:prefLabel - "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž" + "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200126 +
http://nanbyodata.jp/ontology/NANDO_2200495 (rdf:type owl:Class @@ -99477,74 +153357,74 @@

hasNotificationNumber39hasNotificationNumber104
dcterms:description - "Alport็—‡ๅ€™็พค(AS)ใฏ1927ๅนดใซAlportใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้€ฒ่กŒๆ€งใฎ่…Ž็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใง๏ผŒ่ดๅŠ›็•ฐๅธธใƒป็œผ็ƒ็•ฐๅธธใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹(1)ใ€‚ใใฎๅŽŸๅ› ้บไผๅญใฏ๏ผŒCOL4A3๏ผŒCOL4A4๏ผŒCOL4A5้บไผๅญใงใ‚ใ‚‹ใ€‚1990ๅนดใซๅˆใ‚ใฆCOL4A5้บไผๅญๅค‰็•ฐใŒ๏ผธๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๅž‹(X-linked Alport syndrome: XLAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œ(2)๏ผŒๆฌกใ„ใง1994ๅนดใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญๅค‰็•ฐใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅž‹(autosomal recessive Alport syndrome: ARAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(3)ใ€‚ASๅ…จไฝ“ใฎไธญใง๏ผŒXLASใŒ็ด„80๏ผ…๏ผŒARASใŒ็ด„15๏ผ…ใ‚’ๅ ใ‚ใ‚‹๏ผŽๆฎ‹ใ‚Šใฎ5๏ผ…ใฎไธญใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญใฎ็•ฐๅธธใ‹ใ‚‰ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅž‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹(4)ใ€‚ASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(GBM)ใฎ่ฒ่–„ๅŒ–ใƒปๆ–ญ่ฃ‚ใ‚’ไผดใฃใฆ้€ฒ่กŒใ—๏ผŒๆ•ฐๅนดใ‹ใ‚‰ๅๆ•ฐๅนดใ‚’็ตŒใฆๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹(5)ใ€‚ๅˆๆœŸ็—‡็Šถใฏ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใงใ‚ใ‚‹ใ“ใจใŒๅคšใ๏ผŒ็‰นใซXLASใฎ็”ทๆ€งใซใŠใ„ใฆๆˆไบบใซใชใฃใฆใ‹ใ‚‰ใปใผไพ‹ๅค–ใชใ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚XLASใฎใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚‹ๅฅณๆ€งใฎASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใฎใฟใฎ็—‡ไพ‹ใ‹ใ‚‰ๆ—ฉๆœŸใซๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹็—‡ไพ‹ใพใงๅคšๆง˜ใงใ‚ใ‚Š๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใฎไธๆดปๅŒ–็พ่ฑกใซใ‚ˆใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹(5)ใ€‚" + "ใƒญใ‚คใ‚ทใƒณ็•ฐๅŒ–้Ž็จ‹ใฎไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚’3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซ-CoAใซๅค‰ๆ›ใ™ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใฏไนณๅนผๅ…ๆœŸใซๆ„ŸๆŸ“็—‡็ฝนๆ‚ฃ็ญ‰ใ‚’ๅฅ‘ๆฉŸใซReye็—‡ๅ€™็พคๆง˜็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใŒใ€ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถไพ‹ใ‹ใ‚‰้‡ๅบฆใฎ็™บ้”้…ๆปžไพ‹ใชใฉๅคšๅฝฉใช่‡จๅบŠๅƒใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)2)ใ€‚" @ja
dcterms:identifier2200126NANDO:2200495
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_027_01.pdf
rdfs:label - "Alport syndrome" + "3-methylcrotonyl-CoA carboxylase deficiency" @en
rdfs:label - "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
+ rdfs:label + "3ใ‚ใกใ‚‹ใใ‚ใจใซใ‚‹ใ“ใˆใƒผใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_012/https://www.shouman.jp/disease/details/08_02_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010
- skos:altLabel - "chronic glomerulonephritis" - @enhttp://nanbyodata.jp/ontology/NANDO_2100161
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018965http://purl.obolibrary.org/obo/MONDO_0018950
skos:prefLabel - "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - - - - - - - - - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200127 +
http://nanbyodata.jp/ontology/NANDO_2200496 (rdf:type owl:Class @@ -99552,111 +153432,79 @@

hasNotificationNumber30hasNotificationNumber109
dcterms:description - "Epstein็—‡ๅ€™็พคใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ่…Ž็‚Ž๏ผŒ่ปฝๅบฆใฎ้›ฃ่ด๏ผŒๅทจๅคง่ก€ๅฐๆฟใฎๅ‡บ็พใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธ‰ๅพดใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒAlport็—‡ๅ€™็พคใจใฎ้กžไผผ็‚นใ‹ใ‚‰๏ผŒ้บไผๆ€ง่…Ž็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ ๅŒๆง˜ใซไธ‰ๅพดๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹Fechtner็—‡ๅ€™็พคใงใฏ็ฉŽ็ฒ’็ƒๅ†…ใซDรถhleๆง˜ๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใซๅฏพใ—ใฆ๏ผŒ Epstein็—‡ๅ€™็พคใงใฏๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ„ใ†็‚นใงไธก็—‡ๅ€™็พคใฏ้‘‘ๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅฎถ็ณปๅˆ†ๆžใ‚ˆใ‚Š๏ผŒ่ฒฌไปป้บไผๅญใฏ22q11-q13ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œnon-muscle myosin heavy chain typeIIA(NMMHC-IIA)ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MYH9้บไผๅญใŒ่ฆ‹ใ„ใ ใ•ใ‚ŒใŸใ€‚ใ“ใฎ้บไผๅญใฏๅทจๅคง่ก€ๅฐๆฟใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅ…ฑ้€š็™บ็พ็—‡็Šถใจใ™ใ‚‹Epstein็—‡ๅ€™็พค๏ผŒFechtner็—‡ๅ€™็พคใจใจใ‚‚ใซ๏ผŒMay-Hegglin็•ฐๅธธ๏ผŒ Sebastian็—‡ๅ€™็พคใฎ่ฒฌไปป้บไผๅญใงใ‚‚ใ‚ใ‚‹ใ€‚MYH9็•ฐๅธธ็—‡ใฎใ†ใกMay-Hegglin็•ฐๅธธใจSebastian็—‡ๅ€™็พคใฏ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฎๅฝขๆ…‹ใฎ้•ใ„ใซใ‚ˆใฃใฆๅŒบๅˆฅใ•ใ‚Œ๏ผŒใ“ใ‚Œใ‚‰2ใคใฎ็–พๆ‚ฃใงใฏ่…Ž็—‡็Šถใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๅฐฟไธญใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธ(๏ผ“MGCA)ใฎ้Žๅ‰ฐๆŽ’ๆณ„ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจใฏI-Vใฎ5ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกๅฐฟไธญMGCAใฎ็”ฑๆฅใŒๆ˜Žใ‚‰ใ‹ใชใฎใฏIๅž‹ใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ(MGCH)ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ไป–ใฎ็—…ๅž‹ใฏใ€MGCAใฎๆŽ’ๆณ„ๅข—ๅŠ ใฏไป–ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใ‚‹ไบŒๆฌก็š„ๅค‰ๅŒ–ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200127NANDO:2200496
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_028_01.pdf
rdfs:label - "Epstein syndrome" + "Methylglutaconic aciduria" @en
rdfs:label - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=920 + rdfs:label + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00578http://nanbyodata.jp/ontology/NANDO_1200989
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_013/https://www.shouman.jp/disease/details/08_02_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010
- skos:altLabel - "AS" - @en
- skos:altLabel - "Epstein็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004978
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007113
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007954
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015912http://nanbyodata.jp/ontology/NANDO_2100161
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019344http://purl.obolibrary.org/obo/MONDO_0017359
skos:prefLabel - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค" + "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200128 +
http://nanbyodata.jp/ontology/NANDO_2200497 (rdf:type owl:Class @@ -99664,84 +153512,93 @@

hasNotificationNumber42hasNotificationNumber103
dcterms:description - "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(systemic lupus erythematosus: SLE)ใฏ๏ผŒๆŠ—DNAๆŠ—ไฝ“ใ‚’ๅซใ‚€ๅ…็–ซ่ค‡ๅˆไฝ“(immune complex)ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅคš่‡“ๅ™จ็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็‚Ž็—‡ๆ€ง่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใชใ‹ใงใ‚‚๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž(lupus nephritis: LN)ใฏ๏ผŒSLEใซๅˆไฝตใ™ใ‚‹ๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‡“ๅ™จ็—…ๅค‰ใงใ‚ใ‚Š๏ผŒไบˆๅพŒใ‚’ๆฑบๅฎšใ™ใ‚‹ๅ› ๅญใงใ‚ใ‚‹ใ€‚" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅญ˜ๅœจใ™ใ‚‹3-hydroxy-3-methylglutaryl-CoA (HMG-CoA)ใƒชใ‚ขใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ใงใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿใจใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€้žใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใจไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ใใŸใ™ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚็ด„ๅŠๆ•ฐใŒๆ–ฐ็”Ÿๅ…ๆœŸใซ๏ผŒใใฎใปใ‹ใฏไนณๅนผๅ…ๆœŸใซๅ˜”ๅใ‚„ๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“็ญ‰ใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใ€‚20๏ผ…ใฏ็™บไฝœๆ™‚ใซๆญปไบกใ™ใ‚‹ใจใ•ใ‚Œใ€็™บ้”้…ๆปžใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ใ€€ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใซใ‚ˆใ‚‹็™บ็—‡ไบˆ้˜ฒใƒป้šœๅฎณไบˆ้˜ฒใŒๅฏ่ƒฝใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใจ่จบๆ–ญใŒใคใ‘ใฐใ€้‡็ฏคใชไฝŽ่ก€็ณ–็™บไฝœใ‚’ๆฅใ•ใฌใ‚ˆใ†ๆณจๆ„ๆทฑใ„ใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200128NANDO:2200497
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_029_01.pdf
rdfs:label - "Lupus Nephritis" + "3-hydroxy-3-methylglutaric acidemia" @en
rdfs:label - "ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž" + "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" @ja
+ rdfs:label + "3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01500http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2509
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_014/https://www.shouman.jp/disease/details/08_02_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "LN" + "3-hydroxy-3-methylglutaric acidaemia" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002486 + skos:altLabel + "HMG-CoA lyase deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005556http://purl.obolibrary.org/obo/MONDO_0009520
skos:prefLabel - "ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž" + "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200129 +
http://nanbyodata.jp/ontology/NANDO_2200498 (rdf:type owl:Class @@ -99749,69 +153606,86 @@

hasNotificationNumber31hasNotificationNumber102
dcterms:description - "MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽ" @ja
dcterms:identifier2200129NANDO:2200498
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_030_01.pdf
rdfs:label - "rapidly progressive glomerulonephritis due to Microscopic Poly-angitis" + "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" @en
rdfs:label - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚Šใ‚‹ใ“ใˆใƒผใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_015/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4401
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "rapidly progressive glomerulonephritis due to MPA" + "HMG-CoA synthase deficiency" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011614
skos:prefLabel - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "SCOTๆฌ ๆ็—‡" + @ja + + + +
http://nanbyodata.jp/ontology/nando#2200130 +
http://nanbyodata.jp/ontology/NANDO_2200499 (rdf:type owl:Class @@ -99819,69 +153693,86 @@

hasNotificationNumber31hasNotificationNumber101
dcterms:description - "MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚" + "ใ‚ฑใƒˆใƒณไฝ“ใฎ่‚ๅค–็ต„็น”ใงใฎๅˆฉ็”จใซ้‡่ฆใชใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA:3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(SCOT)้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200130NANDO:2200499
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_031_01.pdf
rdfs:label - "rapidly progressive glomerulonephritis due to Granulomatosis with polyangiitis" + "succinyl-CoA:3-ketoacid CoA transferase deficiency" @en
rdfs:label - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใ™ใใ—ใซใ‚‹ใ“ใˆใƒผ๏ผš3ใ‘ใจใ•ใ‚“ใ“ใˆใƒผใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_015/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8934
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "rapidly progressive glomerulonephritis due to GPA" - @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009492
skos:prefLabel - "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200131 +
http://nanbyodata.jp/ontology/NANDO_2200500 (rdf:type owl:Class @@ -99889,79 +153780,79 @@

hasNotificationNumber36hasNotificationNumber106
dcterms:description - "้žๅฎšๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค (atypical hemolytic uremic syndrome, aHUS)ใฏ๏ผŒๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSใจADAMTS13(adisintegrin-like and metalloproteinase with thrombospondin type l motifs, member 13)ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… (thrombotic thrombocytopenic purpura, TTP)ไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ(thrombotic microangiopathy, TMA)ใง๏ผŒๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใƒป่ก€ๅฐๆฟๆธ›ๅฐ‘ใƒปๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury, AKI)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ใƒ“ใ‚ชใƒใƒณไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ใ‚‚ใ—ใใฏใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Š4็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PCC)ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(MCC)ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PC)ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(ACC)๏ผ‰ใŒๅŒๆ™‚ใซๆดปๆ€งไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200131NANDO:2200500
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_032_01.pdf
rdfs:label - "Atypical haemolytic uraemic syndrome" + "multiple carboxylase deficiency" @en
rdfs:label - "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "ใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01434http://nanbyodata.jp/ontology/NANDO_1200820
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_017/https://www.shouman.jp/disease/details/08_02_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010
- skos:altLabel - "aHUS" - @enhttp://nanbyodata.jp/ontology/NANDO_2100161
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016244http://purl.obolibrary.org/obo/MONDO_0015454
skos:prefLabel - "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + "Glutaric acidaemia type 1" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#2200132 +
http://nanbyodata.jp/ontology/NANDO_2200501 (rdf:type owl:Class @@ -99969,91 +153860,105 @@

hasNotificationNumber35hasNotificationNumber98
dcterms:description - "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค(nail-patella็—‡ๅ€™็พค๏ผŒMIM161200)ใฏ๏ผŒ็ˆชๅฝขๆˆไธๅ…จ๏ผŒ่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆ๏ผŒ่…ธ้ชจใฎ่ง’็Šถ็ช่ตท(Iliac horn)๏ผŒ่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’4ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—๏ผŒไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚" + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200132NANDO:2200501
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_033_01.pdf
rdfs:label - "Nail-patella syndrome" + "Glutaric acidemia type 1" @en
rdfs:label - "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" + "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใคใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1051http://nanbyodata.jp/ontology/NANDO_1200800
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_018/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2268
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "aHUS" + "GA1" @en
skos:altLabel - "็ˆช่†่“‹็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008061 + skos:altLabel + "Glutaryl-CoA dehydrogenase deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016244http://purl.obolibrary.org/obo/MONDO_0009281
skos:prefLabel - "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค" + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" @ja
- - + - - + + - + - + + + + + - - + + + + + + + + + + + + + + + + + + + + + + + + + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200133 +
http://nanbyodata.jp/ontology/NANDO_2200502 (rdf:type owl:Class @@ -100061,67 +153966,112 @@

hasNotificationNumber37hasNotificationNumber99
dcterms:description - "้žๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณ็”ฑๆฅใฎ็นŠ็ถญๆ€ง็‰ฉ่ณช๏ผˆใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ; FN๏ผ‰ใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ๅ‘ˆใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๆฒˆ็€ใ™ใ‚‹FNใฏ็ต„็น”็”ฑๆฅใงใชใ่ก€ๆผฟ็”ฑๆฅใงใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + "ใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡๏ผ’ๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ(electron transfer flavoprotein: ETF)ใ‚‚ใ—ใใฏETF่„ฑๆฐด็ด ้…ต็ด (ETF dehydrogenase: ETFDH)ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฐใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡2ๅž‹ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—่‡ดๆญป็š„ใชๆœ€้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏไบŒๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200133NANDO:2200502
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_034_01.pdf
rdfs:label - "Glomerulopathy with fibronectin deposits, fibronectin nephropathy" + "Glutaric acidemia type 2" @en
rdfs:label - "ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡" + "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใคใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01260 + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200801
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2269
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_034/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100161
+ skos:altLabel + "GA2" + @en
+ skos:altLabel + "Glutaric acidaemia type 2" + @en
+ skos:altLabel + "Multiple acyl-CoA dehydrogenase deficiency" + @en
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_019/ + skos:altLabel + "multiple acyl-CoA dehydrogenase deficiency" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009282
skos:prefLabel - "ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡" + "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200134 +
http://nanbyodata.jp/ontology/NANDO_2200503 (rdf:type owl:Class @@ -100129,72 +154079,79 @@

hasNotificationNumber40hasNotificationNumber100
dcterms:description - "ใƒชใƒ่›‹็™ฝ็ณธ็ƒไฝ“็—‡๏ผˆlipoprotein glomerulopathy; LPG๏ผ‰ใฏใ€็ณธ็ƒไฝ“ๅ†…ใซใƒชใƒ่›‹็™ฝใ‚’ๅซใ‚€่ก€ๆ “ๆง˜็‰ฉ่ณชใŒๅ‡บ็พใ™ใ‚‹ใ€็‰น็•ฐ็š„ใช่…Ž้šœๅฎณใ‚’็คบใ™ๅŽŸ็™บๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1986 ๅนดใซๆ—ฅๆœฌใงๅˆใ‚ใฆ็™บ่ฆ‹ใ•ใ‚Œ1989ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใชใ•ใ‚Œ๏ผˆ๏ผ‘๏ผ‰ใ€็พๅœจใพใงใซๆ—ฅๆœฌใ‚„ไธญๅ›ฝใ‚’ใฏใ˜ใ‚ใจใ—ใŸไธ–็•Œๅ„ๅ›ฝใง150็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผˆ๏ผ’๏ผ‰ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๆ‹กๅผตใ—ใŸ็ณธ็ƒไฝ“่ก€็ฎก่…”ใซ็ถฒ็ŠถใฎๆทกๆŸ“ๆ€ง็‰ฉ่ณชใงใ‚ใ‚‹ใƒชใƒ่›‹็™ฝใŒ่ก€ๆ “็Šถใซๅ……ๆบ€ใ™ใ‚‹็‰น็•ฐ็š„ใชๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆโ…ขๅž‹้ซ˜่„‚่ก€็—‡้กžไผผใฎๆ‰€่ฆ‹ใ‚„่ก€ๆธ…ใ‚ขใƒ่›‹็™ฝ๏ผˆใ‚ขใƒ๏ผ‰E้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใใฎๅŽŸๅ› ใจใ—ใฆใ€ใ•ใพใ–ใพใชใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใฎApoE้บไผๅญๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœช็™บ็—‡ไฟๅ› ่€…ใ‚‚ใŠใ‚Šใ€ไป–ใฎ่ฆๅ› ใฎ้–ขไธŽใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่›‹็™ฝๅฐฟใง็™บ็—‡ใ—ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็ตŒใฆ็ด„ๅŠๆ•ฐใŒๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚Šใ€่…Ž็งปๆคใ‚’ใ—ใฆใ‚‚ๅ†็™บใ—็งปๆค่…ŽใŒๅปƒ็ตถใซ่‡ณใ‚‹ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒ๏ผˆ3, 4๏ผ‰ใ€่ฟ‘ๅนดใ€ๆฒป็™‚ๆณ•ใจใ—ใฆใƒ•ใ‚ฃใƒ–ใƒฉใƒผใƒˆใ‚’ไธญๅฟƒใจใ—ใŸ้ซ˜่„‚่ก€็—‡ๆ”นๅ–„่–ฌใŒๆœ‰็”จใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผˆ๏ผ•,6, 7๏ผ‰ใ€‚" + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹๏ผˆprimary hyperoxaluria type 1; PH1๏ผ‰ใฏ่‚่‡“ใฎใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒฉใƒ‹ใƒณ๏ผšใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆalanine:glyoxylate aminotransferase: AGT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ๅ†…ใฎใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ…กๅž‹๏ผˆPH2๏ผ‰ใฏ่‚่‡“ใฎใ‚ตใ‚คใƒˆใ‚พใƒซใซๅฑ€ๅœจใ™ใ‚‹ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธ้‚„ๅ…ƒ้…ต็ด /ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ”ใƒซใƒ“ใƒณ้…ธ้‚„ๅ…ƒ้…ต็ด (GRHPR)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใฏใ‚ทใƒฅใ‚ฆ้…ธใฎๅ‰้ง†็‰ฉ่ณชใงใ‚ใ‚Šใ€ไธกๅž‹ใจใ‚‚้Žๅ‰ฐใซ็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ทใƒฅใ‚ฆ้…ธใซใ‚ˆใ‚Šใ€ไธๆบถๆ€งใฎใ‚ทใƒฅใ‚ฆ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใŒ่…Ž่‡“ใ‚’ใฏใ˜ใ‚ๅ…จ่บซใฎ่‡“ๅ™จใซๆฒˆ็€ใ—ใฆๅคš่‡“ๅ™จใซ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœ€่ฟ‘ใ€non-PH1/non-PH2ใฎPHใฎๅฎถ็ณปไพ‹ใงใ€ใƒ›ใƒขๆŽฅๅˆไฝ“ใƒžใƒƒใƒ”ใƒณใ‚ฐๆณ•ใซใ‚ˆใ‚Š10็•ชๆŸ“่‰ฒไฝ“q24.2ใซๅญ˜ๅœจใ™ใ‚‹DHDPSL้บไผๅญใฎๅค‰็•ฐใŒ็ฌฌ๏ผ“ใฎPHใฎ็—…ๅ› ใงใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‹ใ‚‰ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใธใฎไปฃ่ฌ็ตŒ่ทฏใซใ‚ใ‚‹้…ต็ด ่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใจ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200134NANDO:2200503
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_035_01.pdf
rdfs:label - "Lipoprotein glomerulopathy" + "Primary hyperoxaluria" @en
rdfs:label - "ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡" + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ—ใ‚…ใ†ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7703https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00117
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_020/https://www.shouman.jp/disease/details/08_02_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012725http://purl.obolibrary.org/obo/MONDO_0002474
skos:prefLabel - "ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡" + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡" @ja
- - + - - + + - + - + + "Alkaptonuria" + @en + "ใ‚ใ‚‹ใ‹ใทใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200135 +
http://nanbyodata.jp/ontology/NANDO_2200504 (rdf:type owl:Class @@ -100202,62 +154159,84 @@

hasNotificationNumber43hasNotificationNumber95
dcterms:description - "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ่›‹็™ฝๅฐฟใŠใ‚ˆใณ๏ผˆใพใŸใฏ๏ผ‰่ก€ๅฐฟใฎๅฐฟๆ‰€่ฆ‹็•ฐๅธธใŒ1ๅนดไปฅไธŠ็ถšใใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹่…Ž็–พๆ‚ฃใฎ่‡จๅบŠๆฆ‚ๅฟตใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅŽŸ็–พๆ‚ฃใจใ—ใฆ๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซ่กจใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚่กจใ€€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽใฎๅŽŸ็–พๆ‚ฃ" + "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใฎไปฃ่ฌ็ตŒ่ทฏไธŠใซไฝ็ฝฎใ™ใ‚‹ใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ(homogentisic acid, HGA)ใ‚’ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใธใจ่ปขๆ›ใ™ใ‚‹HGA-1,2-ใ‚ธใ‚ชใ‚ญใ‚ทใ‚ฒใƒŠใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™(1)ใ€‚ๆœฌ็—‡ใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใฏใ€ๅฐฟไธญใธใฎHGAใฎๆŽ’ๆณ„ๅข—ๅŠ ใ€HGAใƒใƒชใƒžใƒผใ‚„HGAใฎ้…ธๅŒ–็‰ฉใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚‹็ตๅˆ็น”ใฎ่ค่‰ฒๅค‰ๅŒ–ใ€่„ŠๆคŽใ‚„ๅคง้–ข็ฏ€ใฎ้–ข็ฏ€็‚Žใ€ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๅฟƒ่ก€็ฎก็ณปใธHGAใŒๆฒˆ็€ใ™ใ‚‹ใจใ€ๅคงๅ‹•่„ˆๅผใ‚„ๅƒงๅธฝๅผใฎ้–‰้Ž–ไธๅ…จ็—‡ใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚" @ja
dcterms:identifier2200135NANDO:2200504
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_02_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_036_01.pdf
rdfs:label - "7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" - @ja
rdfs:label - "Other chronic glomerulonephritis" - @en
+ rdfs:label + "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_021/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1724
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00163
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100010http://nanbyodata.jp/ontology/NANDO_2100161
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008753
skos:prefLabel - "7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž" + "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200136 +
http://nanbyodata.jp/ontology/NANDO_2200505 (rdf:type owl:Class @@ -100265,74 +154244,91 @@

hasNotificationNumber47hasNotificationNumber97
dcterms:description - "ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž(TIN)ใฏ็—…็†็ต„็น”ๅญฆ็š„ๆฆ‚ๅฟตใง๏ผŒๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณ้–“่ณชใฎ็‚Ž็—‡ใ‚’ไธปไฝ“ใจใ—ใŸ้›‘ๅคšใชๅฝขๆ…‹ๅญฆ็š„ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹่…Ž็—…ๅค‰ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒๅคšๅฝฉใงๅบƒ็ฏ„ใช็—…ๅ› ๏ผŒ็—…ๆ…‹๏ผŒ่‡จๅบŠ็š„ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹(1๏ผŒ 2)ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ๏ผŒๆตฎ่…ซใ‚„็ดฐ่ƒžๆตธๆฝคใชใฉใฎๆ€ฅๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ€ฅๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใจ๏ผŒ้–“่ณช็ทš็ถญๅŒ–๏ผŒๅฐฟ็ดฐ็ฎกใฎ่Ž็ธฎใชใฉใฎๆ…ขๆ€งๅค‰ๅŒ–ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—๏ผŒๆ€ฅๆ€งใงใ‚‚ใ•ใพใ–ใพใช็จ‹ๅบฆใซ็ทš็ถญๅŒ–็—…ๅค‰ใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใพใŸๆ…ขๆ€งใงใ‚‚็‚Ž็—‡็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŸใ‚๏ผŒๆ€ฅๆ€งใƒปๆ…ขๆ€งใฎ้‘‘ๅˆฅใฏ็—…็†็ต„็น”ๆ‰€่ฆ‹ใฎใฟใงใฏๆ˜Ž็ขบใงใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏ็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใจ่‡จๅบŠ็ตŒ้Žใ‚’่€ƒๆ…ฎใ—ใฆ๏ผŒๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆ…ขๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹(2)ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใ‚„่ช˜ๅ› ใ‹ใ‚‰ๅˆ†้กžใ™ใ‚‹่€ƒใˆๆ–นใŒWHOใฎๅˆ†้กžใŒๅบƒใ็”จใ„ใ‚‰ใ‚Œใ‚‹(่กจ)(3)ใ€‚" + "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซใ‚ญใƒŠใƒผใ‚ผ (GK) ๆฌ ๆ็—‡๏ผˆGKD; OMIM #307030๏ผ‰ใฏใ€้ซ˜ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ่ก€็—‡ใจๅฐฟไธญใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๆŽ’ๆณ„ไบข้€ฒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚GK ใซใ‚ˆใฃใฆ็”Ÿๆˆใ™ใ‚‹ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ-3-ใƒชใƒณ้…ธใฏใ€ไธญๆ€ง่„‚่‚ชใชใฉใฎ่„‚่ณชๅˆๆˆใ‚„็ณ–ๆ–ฐ็”ŸใฎๅŸบ่ณชใงใ‚ใ‚Šใ€GKD ๆ‚ฃ่€…ใฏใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใ‚’ไธปๅพดใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใ€‚" @ja
dcterms:identifier2200136NANDO:2200505
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_03_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_037_01.pdf
rdfs:label - "Tubulointerstitial nephritis" + "Glycerol kinase deficiency" @en
rdfs:label - "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž" + "ใใ‚Šใ›ใ‚ใƒผใ‚‹ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_03_022/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3437
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02013
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100011http://nanbyodata.jp/ontology/NANDO_2100161
skos:altLabel - "TIN" + "GKD" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001085http://purl.obolibrary.org/obo/MONDO_0010613
skos:prefLabel - "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž" + "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200137 +
http://nanbyodata.jp/ontology/NANDO_2200506 (rdf:type owl:Class @@ -100340,67 +154336,79 @@

hasNotificationNumber44hasNotificationNumber105
dcterms:description - "ๆ…ขๆ€ง่…ŽๅญŸ่…Ž็‚Ž(chronicใ€€pyelonephritis๏ผ‰ใฏๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฐฟ่ทฏๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ๏ผŒๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Žใจ็งฐใ›ใ‚‰ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฎๆฎ†ใฉใŒ้€†ๆตๆ€ง่…Ž็—‡๏ผˆreflux nephropathy๏ผ‰ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹(1)ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใจใฏใ€่ƒ†ๆฑ้…ธ็”Ÿๅˆๆˆ็ตŒ่ทฏ๏ผˆneutral pathwayใจacidic pathway๏ผ‰ใฎ้บไผๆ€ง้…ต็ด ๆฌ ๆใ‚’1ๆฌกๆ€งใฎ็—…ๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ€ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹็•ฐๅธธ่ƒ†ๆฑ้…ธใ‚‚ใ—ใใฏ่ƒ†ๆฑใ‚ขใƒซใ‚ณใƒผใƒซใฎ่‚็ดฐ่ƒžๅ†…่“„็ฉใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ˜็จฎ้กž๏ผˆ3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡ใ€sterol 27-hydroxylase ๆฌ ๆ็—‡ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡ใ€bile acid-CoA: aminoacid N-acyltransferase ๆฌ ๆ็—‡ใ€bile acid-CoA ligase ๆฌ ๆ็—‡ใ€๏ก-methylacyl CoA racemase ๆฌ ๆ็—‡ใ€cholesterol 7๏ก-hydroxylase ๆฌ ๆ็—‡๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆๆœฌ้‚ฆใงใฏ๏ผ“็จฎ๏ผ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผš3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡3ไพ‹ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡3ไพ‹ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡1ไพ‹๏ผ‰ใ€‚" @ja
dcterms:identifier2200137NANDO:2200506
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_04_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_038_01.pdf
rdfs:label - "Chronic pyelonephritis" + "Inborn errors of bile acid metabolism" @en
rdfs:label - "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_04_023/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00628
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100012http://nanbyodata.jp/ontology/NANDO_2100161
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001110http://purl.obolibrary.org/obo/MONDO_0019218
skos:prefLabel - "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž" + "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + "23ใ‹ใ‚‰38ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚†ใ†ใใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200138 +
http://nanbyodata.jp/ontology/NANDO_2200507 (rdf:type owl:Class @@ -100408,62 +154416,69 @@

hasNotificationNumber1hasNotificationNumber111
dcterms:description - "ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅฏๆบถๆ€ง่›‹็™ฝใŒๅ‡้›†ใ—๏ผŒฮฒๆง‹้€ ใ‚’ๆœ‰ใ™ใ‚‹ไธๆบถๅŒ–่›‹็™ฝใŒใ•ใพใ–ใพใช่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’ไป‹ใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒใ“ใฎใ†ใกใ‚ขใƒŸใƒญใ‚คใƒ‰่›‹็™ฝใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ—๏ผŒ็ต„็น”้šœๅฎณใ‚’่ตทใ“ใ™ใ‚‚ใฎใŒใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใงใ‚ใ‚‹ใ€‚" + "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใฎ้Ž็จ‹ใงใ€ใ‚ขใƒŸใƒŽๅŸบใŒๅค–ใ‚ŒใŸๅพŒใฎๅˆ†่งฃใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆœ‰ๆฉŸ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹23ใ€œ38ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„่ฃœ้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎๆœ‰ๆฉŸ้…ธใŒไธŠๆ˜‡ใ™ใ‚‹็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200138NANDO:2200507
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_039_01.pdf
rdfs:label - "Amyloid nephropathy" - @en
rdfs:label - "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" + "23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorders of organic acid metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_05_024/https://www.shouman.jp/disease/details/08_02_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100013http://nanbyodata.jp/ontology/NANDO_2100161
skos:prefLabel - "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž" + "23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + "ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‹ใ‚‹ใซใกใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200139 +
http://nanbyodata.jp/ontology/NANDO_2200508 (rdf:type owl:Class @@ -100471,89 +154486,86 @@

hasNotificationNumber3hasNotificationNumber46
dcterms:description - "่‹ฅๅนด(่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใ™ใ‚‹ๅ‰)ใ‹ใ‚‰ๆŽ’ๆณ„ไฝŽไธ‹ๅž‹้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ—๏ผŒ30๏ฝž40ๆญณไปฃใงๆœซๆœŸ่…Žไธๅ…จใซ่‡ณใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹1)ใ€‚ ้ซ˜็Ž‡ใซ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ—๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใซๅฏพใ™ใ‚‹ๅๅˆ†ใชๆฒป็™‚ใ‚’ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่…Ž้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„1๏ฝž4)ใ€‚็”ทๅฅณใจใ‚‚ใซ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€็—…ๅใซใคใ„ใฆใฏ๏ผŒๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง็—›้ขจ่…Ž็—‡(familial juvenile gouty nephropathy ;FJGN)๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่…Ž็—‡(familial nephropathy associated with hyper uricemia ; FNAH)๏ผŒๅฎถๆ—ๆ€ง่…Žๆ€ง็—›้ขจ (familial renal gout)ใชใฉใฎๅ‘ผใณๆ–นใŒใ‚ใ‚Š๏ผŒ็ตฑไธ€ใ•ใ‚Œใฆใ„ใชใ„ใ€‚่ฟ‘ๅนดuromodulin้บไผๅญ็•ฐๅธธใซๅŸบใฅใ็–พๆ‚ฃ็พคใŒๆๅ”ฑใ•ใ‚Œ๏ผŒๆœฌ็—‡ใฏ็พๅœจuromodulin้–ข้€ฃ่…Ž็–พๆ‚ฃ๏ผˆuromodulin-associated kidney diseases: UAKD๏ผ‰ใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ใ‚ซใƒซใƒ‹ใƒใƒณใฏใƒ‘ใƒซใƒŸใƒใƒณ้…ธ(C16)ใซไปฃ่กจใ•ใ‚Œใ‚‹้•ท้Ž–่„‚่‚ช้…ธใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธๅ–ใ‚Š่พผใ‚€ใŸใ‚ใฎ่ผธ้€ไฝ“ใจใ—ใฆๅƒใ๏ผŽๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡ใฏ็ดฐ่ƒž่†œไธŠใซๅฑ€ๅœจใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ (OCTN2)ใฎๆฉŸ่ƒฝไฝŽไธ‹ใŒๅŽŸๅ› ใง๏ผŒ็ดฐ่ƒžๅ†…ใ‚ซใƒซใƒ‹ใƒใƒณใŒๆฌ ไนใ—๏ผŒ็ตๆžœใจใ—ใฆ้•ท้Ž–่„‚่‚ช้…ธไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹" @ja
dcterms:identifier2200139NANDO:2200508
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_06_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_040_01.pdf
rdfs:label - "Familial juvenile hyperuricaemic nephropathy" + "Organic cation transporter 2 deficiency" @en
rdfs:label - "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1062 + rdfs:label + "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02011http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1892
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_06_025/https://www.shouman.jp/disease/details/08_03_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100014http://nanbyodata.jp/ontology/NANDO_2100162
skos:altLabel - "FJHN" + "Carnitine uptake defect" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000608
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008073http://purl.obolibrary.org/obo/MONDO_0008919
skos:prefLabel - "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡" + "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - - - - - - - - + "CPT1ๆฌ ๆ็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#2200140 +
http://nanbyodata.jp/ontology/NANDO_2200509 (rdf:type owl:Class @@ -100561,101 +154573,91 @@

hasNotificationNumber26hasNotificationNumber41
dcterms:description - "ใƒใƒ•ใƒญใƒณ็™†(nephronophthisis: NPH)ใฏ๏ผŒ่…Ž้ซ„่ณชใซๅšข่ƒžๅฝขๆˆใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใงใ‚ใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ็กฌๅŒ–๏ผŒ็กๅญๅŒ–็ณธ็ƒไฝ“ใ‚’ไผดใ†ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ้บไผๅฝขๅผใฏ๏ผŒไธปใจใ—ใฆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™ใŒ๏ผŒๅญค็™บไพ‹ใ‚‚ใ‚ใ‚‹ (1)ใ€‚ๆœซๆœŸ่…Žไธๅ…จ(ESRD)ใซ่‡ณใ‚‹ๆ™‚ๆœŸใซใ‚ˆใ‚Š๏ผŒ3ใคใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใใ‚Œใ‚‰ใฏ๏ผŒ3-5ๆญณ้ ƒใพใงใซESRDใจใชใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒณ็™†(NPH2)๏ผŒๅนผๅฐ‘ๆœŸใ‹ใ‚‰ๅญฆ็ซฅๆœŸใพใงๆฏ”่ผƒ็š„่‹ฅๅนดๆœŸใซ็™บ็—‡ใ—๏ผŒๅนณๅ‡13-14ๆญณใงESRDใซ็งป่กŒใ™ใ‚‹่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†(NPH1)๏ผŒ ๅนณๅ‡ๅนด้ฝข19ๆญณ้ ƒใซESRDใซ่‡ณใ‚‹ๆ€ๆ˜ฅๆœŸใƒใƒ•ใƒญใƒณ็™†(NPH3)ใงใ‚ใ‚Š๏ผŒใชใ‹ใงใ‚‚ๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใŒ่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†ใงใ‚ใ‚‹ใ€‚็พๅœจ๏ผŒใƒใƒ•ใƒญใƒณ็™†ใซใฏ๏ผŒNPHP1๏ฝžNPHP16ใพใงใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒ๏ผŒใ“ใ‚Œใ‚‰ใฎใ„ใšใ‚Œใฎ้บไผๅญใซใ‚‚็•ฐๅธธใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ใ‚‚ใฎใ‚‚ๅฐ‘ใชใ‹ใ‚‰ใšๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใซๅฏพใ™ใ‚‹็‰นๆฎŠใชๆฒป็™‚ๆณ•ใฏใชใ๏ผŒESRDใฏ้ฟใ‘ใ‚‰ใ‚Œใชใ„็Šถๆณใซใ‚ใ‚‹ใ€‚" + "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€่ก€ไธญใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใŒ่‘—ๅข—ใ—ใ€็ทใ‚ซใƒซใƒ‹ใƒใƒณ้‡ใ‚‚ๆญฃๅธธ๏ฝž่ปฝๅบฆๅข—ๅŠ ใ™ใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€ไฝŽใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–็—‡ใจใจใ‚‚ใซReyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹๏ผˆๆณจ1, 2๏ผ‰ใ€‚" @ja
dcterms:identifier2200140NANDO:2200509
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_07_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_041_01.pdf
rdfs:label - "Nephronophthisis" + "Carnitine palmitoyltransferase I deficiency" @en
rdfs:label - "ใƒใƒ•ใƒญใƒณ็™†" + "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2714http://nanbyodata.jp/ontology/NANDO_1200970
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00537http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2691
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_07_026/https://www.shouman.jp/disease/details/08_03_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100015
- skos:altLabel - "NPH" - @enhttp://nanbyodata.jp/ontology/NANDO_2100162
skos:altLabel - "juvenile nephronophthisis " - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009366
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009728
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019005http://purl.obolibrary.org/obo/MONDO_0009705
skos:prefLabel - "ใƒใƒ•ใƒญใƒณ็™†" + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200141 +
http://nanbyodata.jp/ontology/NANDO_2200510 (rdf:type owl:Class @@ -100663,72 +154665,93 @@

hasNotificationNumber12hasNotificationNumber42
dcterms:description - "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœงใฏๅคงๅ‹•่„ˆใ‹ใ‚‰่…Ž่‡“ใธใจใคใชใŒใ‚‹่…Žๅ‹•่„ˆใพใŸใฏใใฎๅˆ†ๆžใŒ้ƒจๅˆ†็š„ใ‚ใ‚‹ใ„ใฏๅฎŒๅ…จใซ้–‰ๅกžใ—ใŸ็ตๆžœ๏ผŒใƒฌใƒ‹ใƒณใƒปใ‚ขใƒณใ‚ธใ‚ชใƒ†ใƒณใ‚ทใƒณ็ณปใŒๅ†—้€ฒใ—ใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹้ซ˜่ก€ๅœงใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸๅ› ใจใ—ใฆๆˆไบบใงใฏๅ‹•่„ˆ็กฌๅŒ–็—‡๏ผˆ็ฒฅ็Šถๅ‹•่„ˆ็กฌๅŒ–๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ๏ผŒๅฐๅ…ใƒป่‹ฅๅนด่€…ใงใฏ็ทš็ถญ็ญ‹็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ„(1, 2)ใ€‚" + "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€Reyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200141NANDO:2200510
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_08_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_042_01.pdf
rdfs:label - "Renovascular hypertension" + "Carnitine palmitoyltransferase II deficiency" @en
rdfs:label - "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" + "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_08_027/http://nanbyodata.jp/ontology/NANDO_1200971
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100016http://nanbyodata.jp/ontology/NANDO_2100162
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001105 + skos:altLabel + "CPT II deficiency" + @en
+ skos:altLabel + "CPT2ๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006947http://purl.obolibrary.org/obo/MONDO_0015515
skos:prefLabel - "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง" + "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200142 +
http://nanbyodata.jp/ontology/NANDO_2200511 (rdf:type owl:Class @@ -100736,69 +154759,98 @@

hasNotificationNumber13hasNotificationNumber40
dcterms:description - "่…Ž้™่„ˆ่ก€ๆ “็—‡ใฏ๏ผŒ่…Ž้™่„ˆๅ†…ใฎ่ก€ๆ “ๅฝขๆˆใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" + "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€้•ท้Ž–ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅ–ใ‚Š่พผใ‚“ใ ใ‚Šใ€CPT2ใซใ‚ˆใฃใฆๅˆ†้›ขใ•ใ‚ŒใŸ้Š้›ขใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅค–ใซ้‹ใณๅ‡บใ™ๅƒใใ‚’ใ—ใฆใ„ใ‚‹CACTใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฏๅˆ†้›ขใ•ใ‚Œใšใซๅˆฉ็”จใงใใšใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใงใฎ่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CPT IIใจใปใผๅŒใ˜็—…ๆ…‹ใ‚’็คบใ™ใ€‚้ฃข้ค“ๆ™‚ใฎไฝŽ่ก€็ณ–ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใŒใŠใ‚‚ใช็—‡็Šถใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200142NANDO:2200511
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_09_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_043_01.pdf
rdfs:label - "Renal vein thrombosis" + "Carnitine-acylcarnitine translocase deficiency" @en
rdfs:label - "่…Ž้™่„ˆ่ก€ๆ “็—‡" + "ใ‹ใ‚‹ใซใกใ‚“/ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_09_028/http://nanbyodata.jp/ontology/NANDO_1200972
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1891
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100017http://nanbyodata.jp/ontology/NANDO_2100162
skos:altLabel - "RVT" + "CACT deficiency" @en
+ skos:altLabel + "CACTๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008918
skos:prefLabel - "่…Ž้™่„ˆ่ก€ๆ “็—‡" + "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200143 +
http://nanbyodata.jp/ontology/NANDO_2200512 (rdf:type owl:Class @@ -100806,62 +154858,93 @@

hasNotificationNumber14hasNotificationNumber43
dcterms:description - "่…Žๅ‹•้™่„ˆ็—ฉใฏๅŽŸๅ› ใซใ‚ˆใ‚‰ใš๏ผŒ่…Žๅ†…ใง้™่„ˆ็ณปใจๅ‹•่„ˆ็ณปใŒ็•ฐๅธธใชไบค้€šใ‚’ใ‚‚ใฃใŸใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹(1)ใ€‚ๆœฌ็—‡ใฏๆฏ”่ผƒ็š„ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็„ก็—‡ๅ€™ใงๆฝœๅœจใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚‚็›ธๅฝ“ๆ•ฐใ‚ใ‚‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎ็–พๆ‚ฃใฎ็ฒพๆŸปใซใฆๆ–ฝ่กŒใ•ใ‚ŒใŸ็”ปๅƒๆคœๆŸปใงๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚" + "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (very-long-chain acyl-CoA dehydrogenase: VLCAD)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œไธŠๅ†…ๅดใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไธ‰้ ญ้…ต็ด ใจใจใจใ‚‚ใซ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’ๆ‹…ใ†ใ€‚" @ja
dcterms:identifier2200143NANDO:2200512
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_10_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_044_01.pdf
rdfs:label - "Renal arteriovenous fistula" + "Very-long-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "่…Žๅ‹•้™่„ˆ็˜ป" + "ใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_10_029/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1695
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100018http://nanbyodata.jp/ontology/NANDO_2100162
+ skos:altLabel + "VLCAD deficiency" + @en
+ skos:altLabel + "VLCADD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008723
skos:prefLabel - "่…Žๅ‹•้™่„ˆ็˜ป" + "ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200144 +
http://nanbyodata.jp/ontology/NANDO_2200513 (rdf:type owl:Class @@ -100869,79 +154952,86 @@

hasNotificationNumber16hasNotificationNumber48
dcterms:description - "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆrenal tubular acidosis : RTA๏ผ‰ใฏ๏ผŒๅ…ˆๅคฉๆ€งใ‚ใ‚‹ใ„ใฏๅพŒๅคฉๆ€งใฎ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒๅฐฟไธญใธใฎ้…ธๆŽ’ๆณ„ใŒ้šœๅฎณใ•ใ‚Œ๏ผŒ้…ธ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใก้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹RTAใŒ้ ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(distal RTA๏ผšdRTA๏ผŒIๅž‹RTA)๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹RTAใŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(proximal RTA๏ผšpRTA๏ผŒIIๅž‹RTA)๏ผŒ้ ไฝๅฐฟ็ดฐ็ฎกใงใฎๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆฑ ้šœๅฎณใจ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ้šœๅฎณใ‚’ๅˆไฝตใ—ใŸ็Šถๆ…‹ใ‚’hybrid RTA(IIIๅž‹RTA)๏ผŒใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏไฝœ็”จไธๅ…จใซใ‚ˆใ‚Š้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Kใจๆฐด็ด ใ‚คใ‚ชใƒณใฎๆŽ’ๆฑ ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚’้ซ˜K่ก€ๆ€งdRTA(hyper K dRTA๏ผŒIVๅž‹RTA)ใจใ‚ˆใถใ€‚ใŸใ ใ—๏ผŒIIIๅž‹ใฏไนณๅนผๅ…ใซๅคšใใฟใ‚‰ใ‚Œใ‚‹Iๅž‹RTAใฎ้‡็—‡ๅž‹ใจใ•ใ‚Œ๏ผŒ็พๅœจใงใฏ็”จใ„ใ‚‰ใ‚Œใฆใ„ใชใ„ใ€‚" + "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆMCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚ไธญ้Ž–๏ผˆ็‚ญ็ด ๆ•ฐ4ใ€œ10๏ผ‰ใฎ็›ด้Ž–ใฎ่„‚่‚ช้…ธใ‚’ไปฃ่ฌใ™ใ‚‹MCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚3ใ€œ4ๆญณไปฅไธ‹ใฎใ€ๆ€ฅๆ€ง็™บ็—‡ใพใงใฏไฝ•ใ‚‰็‰นๅพด็š„ๆ‰€่ฆ‹ใ‚„ๆ—ขๅพ€ใ‚’ใ‚‚ใŸใชใ„ๅฐๅ…ใŒใ€ๆ„ŸๆŸ“ใ‚„้ฃข้ค“ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜/ใƒฉใ‚คๆง˜็—‡ๅ€™็พคๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ„ใฃใŸใ‚“็™บ็—‡ใ™ใ‚‹ใจๆญปไบก็Ž‡ใŒ้ซ˜ใใ€ไนณๅนผๅ…็ช็„ถๆญป็—‡ๅ€™็พค๏ผˆSIDS๏ผ‰ใฎไธ€ๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚Œใ‚Œใฐใ€้ฃข้ค“ใ‚’้ฟใ‘ใ‚‹้ฃŸไบ‹ๆŒ‡ๅฐŽใงใปใผๅฎŒๅ…จใซ็™บ็—‡ไบˆ้˜ฒใŒใงใใ‚‹ใ€‚" @ja
dcterms:identifier2200144NANDO:2200513
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_11_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_045_01.pdf
rdfs:label - "Renal tubular acidosis" + "Medium-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02310http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1692
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_11_030/https://www.shouman.jp/disease/details/08_03_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100019http://nanbyodata.jp/ontology/NANDO_2100162
skos:altLabel - "RTA" + "MCAD deficiency" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001909http://purl.obolibrary.org/obo/MONDO_0008721
skos:prefLabel - "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200145 +
http://nanbyodata.jp/ontology/NANDO_2200514 (rdf:type owl:Class @@ -100949,69 +155039,79 @@

hasNotificationNumber4hasNotificationNumber47
dcterms:description - "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚" + "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎฮฒ้…ธๅŒ–ใ‚’่งฆๅช’ใ™ใ‚‹SCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚่ก€ไธญใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4ใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใจๅฐฟไธญใ‚จใƒใƒซใƒžใƒญใƒณ้…ธใฎๅข—ๅŠ ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€œไนณๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใงๆ€ฅๆ€ง็™บ็—‡ใ—ใŸๆœฌ็–พๆ‚ฃๆ‚ฃๅ…ใฎSCADๆฎ‹ๅญ˜้…ต็ด ๆดปๆ€งใฏ40ใ€œ60%ใงใ‚ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ๅ˜็‹ฌใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใฎใงใฏใชใใ€SCAD่›‹็™ฝใฎใƒŸใ‚นใƒ•ใ‚ฉใƒผใƒซใƒ‡ใ‚ฃใƒณใ‚ฐใฎๅฝฑ้Ÿฟใ€ไป–ใฎ้บไผๅ› ๅญใ‚„็’ฐๅขƒๅ› ๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใชใฉใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใงใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็—‡ไพ‹ใงใฏใ€้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚„้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใฆใ‚‚ๅคง้ƒจๅˆ†ใŒ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใŸใ‚ใ€ใ‚ใŒๅ›ฝใงใฏใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier2200145NANDO:2200514
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_12_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_046_01.pdf
rdfs:label - "Gitelman Bartter syndrome" + "Short-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค" + "ใŸใ‚“ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_12_031/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1694
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_046/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100020http://nanbyodata.jp/ontology/NANDO_2100162
- skos:altLabel - "Gitelman็—‡ๅ€™็พค" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008722
skos:prefLabel - "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค" + "็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + "TFP deficiency" + @en + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200146 +
http://nanbyodata.jp/ontology/NANDO_2200515 (rdf:type owl:Class @@ -101019,74 +155119,98 @@

hasNotificationNumber27hasNotificationNumber44
dcterms:description - "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚" + "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธ‰้ ญ้…ต็ด ๏ผˆTFP๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ—ใ€ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆVLCAD๏ผ‰ใซๅผ•ใ็ถšใ„ใฆ็‚ญ็ด ้Ž–16ใ€œ12ไป˜่ฟ‘ใฎ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’่กŒใ†ใ€้•ท้Ž–ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆLCEH๏ผ‰ใ€้•ท้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆLCHAD๏ผ‰ใ€้•ท้Ž–3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆLCKT๏ผ‰ใฎ3ใคใฎใƒ‰ใƒกใ‚คใƒณใ‚’ใ‚‚ใค้…ต็ด ่›‹็™ฝใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰3ใคใฎ้…ต็ด ๆดปๆ€งใŒใ™ในใฆๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’TFPๆฌ ๆ็—‡ใ€LCHADๆดปๆ€งใฎใฟๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’LCHADๆฌ ๆ็—‡ใจใ‚ˆใถใ€‚ใ‚ใŒๅ›ฝใงใฏTFPๆฌ ๆ็—‡ใฎๅ ฑๅ‘ŠใŒๅคšใใ€LCHADๆฌ ๆ็—‡ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚" @ja
dcterms:identifier2200146NANDO:2200515
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_13_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_047_01.pdf
rdfs:label - "Bartter Gitelman syndrome" + "Trifunctional protein deficiency" @en
rdfs:label - "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค" + "ใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00239http://nanbyodata.jp/ontology/NANDO_1200974
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_13_032/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6449
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100021http://nanbyodata.jp/ontology/NANDO_2100162
skos:altLabel - "Bartter็—‡ๅ€™็พค" - @ja
+ skos:altLabel + "mitochondrial trifunctional protein deficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012172
skos:prefLabel - "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค" + "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200147 +
http://nanbyodata.jp/ontology/NANDO_2200516 (rdf:type owl:Class @@ -101094,62 +155218,79 @@

hasNotificationNumber15hasNotificationNumber45
dcterms:description - "ๅฐฟ่ทฏใซ็ต็ŸณใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ๅฐฟ่ทฏ็ต็Ÿณ็—‡ใจใ„ใ„๏ผŒ่…Ž๏ฝžๅฐฟ็ฎกๅ†…ใซ็”Ÿใ˜ใ‚‹ไธŠ้ƒจๅฐฟ่ทฏ็ต็Ÿณใจ๏ผŒ่†€่ƒฑ๏ฝžๅฐฟ้“ใซ็”Ÿใ˜ใ‚‹ไธ‹้ƒจๅฐฟ่ทฏ็ต็ŸณใจใซๅŒบๅˆฅใ™ใ‚‹ใ€‚ๅฐๅ…ใฎๅฐฟ่ทฏ็ต็ŸณใฏๆˆไบบใจๅŒๆง˜ใซไธŠ้ƒจๅฐฟ่ทฏใŒๅคšใ„ใŒ๏ผŒ้ ปๅบฆใฏไฝŽใๅ…จๅฐฟ่ทฏ็ต็Ÿณๆ‚ฃ่€…ใฎ1๏ผ…ใฎ็™บ็—‡็Ž‡ใงใ‚ใ‚‹(1)ใ€‚ๆ€งๅทฎใฏใฟใ‚‰ใ‚Œใš๏ผŒใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)็ต็Ÿณใ‚„ๆ„ŸๆŸ“็ต็Ÿณใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ใพใŸ๏ผŒไปฃ่ฌ็•ฐๅธธใ‚„ๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใงใ‚ใ‚‹ใ€‚" + "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (3-hydroxy acyl-CoA dehydrogenase ๏ผšHADH)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไป–ใฎฮฒ้…ธๅŒ–้…ต็ด ็พคใจๅ”ๅƒใ—ใฆไธญใƒป็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎไปฃ่ฌใ‚’ๆ‹…ๅฝ“ใ—ใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏ็Ÿญ้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCHAD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใฆใ„ใŸใ€‚HADHๆฌ ๆ็—‡ใฏใ€ไธญ้Ž–ใ€็Ÿญ้Ž–ใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoAใŒ่“„็ฉใ—ใ€่ก€ไธญ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4-OHใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใŒใŠใ‚‚ใซๅข—ๅŠ ใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณๆ€งไฝŽ่ก€็ณ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใฏใ€HADHใŒใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆGDH๏ผ‰ใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚Šใ€HADHๆฌ ๆ็—‡ใงใฏGDHๆดปๆ€งใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใจใชใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ปๅบฆใŒๆฅตใ‚ใฆไฝŽใใ€ๅฝ้™ฝๆ€ง็Ž‡ใŒ็›ธๅฏพ็š„ใซ้ซ˜ใ„ใŸใ‚ใ€็พๅœจใ€ใ‚ใŒๅ›ฝใงใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier2200147NANDO:2200516
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_14_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_048_01.pdf
rdfs:label - "Nephro- and urolithiasis" + "3-hydroxy acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "่…Žๅฐฟ็ฎก็ต็Ÿณ" + "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
+ rdfs:label + "3ใฒใฉใ‚ใใ—ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_14_033/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2266
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100022http://nanbyodata.jp/ontology/NANDO_2100162
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009278
skos:prefLabel - "่…Žๅฐฟ็ฎก็ต็Ÿณ" + "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "40ใ‹ใ‚‰48ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใผใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200148 +
http://nanbyodata.jp/ontology/NANDO_2200517 (rdf:type owl:Class @@ -101157,62 +155298,69 @@

hasNotificationNumber46hasNotificationNumber49
dcterms:description - "่…Ž่…ซ็˜ใฏ่…ŽๅฎŸ่ณชใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚Š๏ผŒ่…ŽๅฎŸ่ณชใ‚’ๆง‹ๆˆใ™ใ‚‹ๆˆๅˆ†ใงใ‚ใ‚‹ๅฐฟ็ดฐ็ฎกใ‚„้›†ๅˆ็ฎกใชใฉใฎไธŠ็šฎใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€ง่…ซ็˜ใจ๏ผŒๅนณๆป‘็ญ‹ใ‚„่„‚่‚ชใชใฉ้žไธŠ็šฎๆ€งๆˆๅˆ†ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹้žไธŠ็šฎๆ€ง่…ซ็˜ใŠใ‚ˆใณไธŠ็šฎๆ€งๆˆๅˆ†ใจ้žไธŠ็šฎๆ€งๆˆๅˆ†ใฎๆททๅœจใ™ใ‚‹ใใฎไป–ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใฟใ‚‰ใ‚Œใ‚‹่…Ž่…ซ็˜ใฎ็ด„90๏ผ…ใฏ๏ผŒไธŠ็šฎๆˆๅˆ†ใจ้žไธŠ็šฎๆˆๅˆ†ใŒๆททๅœจใ™ใ‚‹่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใงใ‚ใ‚‹ใ€‚ใ€€่…ซ็˜ใฎๅข—ๅคงใซใ‚ˆใ‚‹่…ŽๅฎŸ่ณชใฎ็›ดๆŽฅ็š„ใชไพต่ฅฒใฎใฟใชใ‚‰ใš๏ผŒๆฒป็™‚ใจใ—ใฆใŠใ“ใชใ†่…ซ็˜ๆ‘˜ๅ‡บใ‚„่…Žๅ…จๆ‘˜่ก“๏ผŒๅŒ–ๅญฆ็™‚ๆณ•๏ผŒๆ”พๅฐ„็ทš็™‚ๆณ•ใชใฉใฎๆฒป็™‚ใŒ่…ŽๆฉŸ่ƒฝใฎๅ–ชๅคฑใ‚„ๆ…ขๆ€ง่…Žไธๅ…จใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚" + "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่„‚่‚ช้…ธฮฒ้…ธๅŒ–ใซใ‚ˆใฃใฆ่„‚่‚ชใ‹ใ‚‰ใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ™้Ž็จ‹ใซ้–ขใ‚ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใ‚„้‹ๅ‹•ๆ™‚ใซใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚Šใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹40ใ€œ48ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่„‚่‚ช้…ธไปฃ่ฌใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200148NANDO:2200517
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_049_01.pdf
rdfs:label - "Chronic renal failure due to renal tumour" - @en
rdfs:label - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorders of fatty-acid metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_15_034/https://www.shouman.jp/disease/details/08_03_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100023http://nanbyodata.jp/ontology/NANDO_2100162
skos:prefLabel - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200149 +
http://nanbyodata.jp/ontology/NANDO_2200518 (rdf:type owl:Class @@ -101220,62 +155368,79 @@

hasNotificationNumber45hasNotificationNumber88
dcterms:description - "ๆ€ฅๆ€ง่…Žไธๅ…จ(acute renal failure: ARF)ใฏ๏ผŒ่ก€ๆธ…ใ‚ฏใƒฌใ‚กใƒใƒ‹ใƒณ(Cr)ๅ€คใ‚„่ก€ๆถฒๅฐฟ็ด ็ช’็ด (BUN)ๅ€คใฎไธŠๆ˜‡ใง็คบใ•ใ‚Œใ‚‹่…ŽๆฉŸ่ƒฝใฎๆ€ฅ้€ŸใชไฝŽไธ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚‚ใฎใง๏ผŒ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆใฏ๏ผŒๆ•ฐๆ—ฅใ‹ใ‚‰ๆ•ฐ้€ฑ้–“ใฎ็ตŒ้Žใง๏ผŒๆ€ฅ้€Ÿใซ่…ŽๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ใฆ่›‹็™ฝใฎๆœ€็ต‚็”ฃ็‰ฉใ‚’ใฏใ˜ใ‚ใจใ—ใŸ่€ๅปƒ็‰ฉใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใŸ็ตๆžœ๏ผŒ้ซ˜็ช’็ด ่ก€็—‡๏ผŒๆบขๆฐดใƒป้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใชใฉใฎๆฐด้›ป่งฃ่ณช็•ฐๅธธ๏ผŒไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎ้…ธๅกฉๅŸบๅนณ่กกใฎ้šœๅฎณใŒๅ‡บ็พใ™ใ‚‹็—‡ๅ€™็พคใจใ•ใ‚ŒใฆใใŸใ€‚ARFใฎ่จบๆ–ญๅŸบๆบ–ใจใ—ใฆใฏ๏ผŒใ€Œโ‘ ่ก€ๆธ…Crๅ€คใŒ2.0๏ฝž2.5mg/dLไปฅไธŠใซๆ€ฅ้€ŸใซไธŠๆ˜‡๏ผŒโ‘กๅŸบ็คŽใซ่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ๏ผŒ่ก€ๆธ…Crๅ€คใŒๅ‰ๅ€คใฎ50%ไปฅไธŠไธŠๆ˜‡๏ผŒโ‘ข่ก€ๆธ…Crๅ€คใŒ0.5mg/dL/ๆ—ฅ๏ผŒใ‚‚ใ—ใใฏBUNใŒ10mg/dL/ๆ—ฅไปฅไธŠใฎ้€ŸๅบฆใงไธŠๆ˜‡๏ผŒใฎใ„ใšใ‚Œใ‹ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ‚‚ใฎใ€ใจ็คบใ•ใ‚ŒใฆใใŸ(1)ใ€‚ใ—ใ‹ใ—๏ผŒARFใงใฏ๏ผŒ่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใฎ็จ‹ๅบฆใ‚„้€Ÿๅบฆใซใคใ„ใฆใฎไธ–็•Œๆจ™ๆบ–ใฎ่จบๆ–ญๅŸบๆบ–ใฏ๏ผŒใ“ใ‚Œใพใง็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ‹ใฃใŸใ€‚ใใฎใŸใ‚๏ผŒARFใฎๆญปไบก็Ž‡ใŒๆธ›ๅฐ‘ใ›ใš๏ผŒ50%ไปฅไธŠใฎ็Šถๆ…‹ใŒ็ถšใ„ใฆใ„ใŸใ€‚ARFใฎ้ซ˜ใ„ๆญปไบก็Ž‡ใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซใฏ๏ผŒ่จบๆ–ญๅŸบๆบ–ใ‚’ไธ–็•Œ็š„ใซ็ตฑไธ€ใ—๏ผŒใ‚จใƒ“ใƒ‡ใƒณใ‚นใ‚’ๅ…ฑๆœ‰ใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ๏ผŒๅพ“ๆฅ่‡จๅบŠไธŠใปใจใ‚“ใฉๅ•้กŒ่ฆ–ใ•ใ‚Œใชใ‹ใฃใŸใ‚ใšใ‹ใช่ก€ๆธ…Crๅ€คใฎไธŠๆ˜‡ใŒ๏ผŒๆ‚ฃ่€…ใฎๆญปไบกใซๅคงใใๅฏ„ไธŽใ™ใ‚‹ใ“ใจใŒใƒกใ‚ฟใ‚ขใƒŠใƒชใ‚ทใ‚นใงใ‚‚ๆคœ่จผใ•ใ‚Œ๏ผŒใ“ใ‚ŒใพใงARFใซ้™ฅใฃใฆใ‹ใ‚‰่ก€ๆถฒๆต„ๅŒ–็™‚ๆณ•ใ‚’่กŒใ†ๅฏพ่ฑกใ‚’๏ผŒ็”Ÿๅ‘ฝไบˆๅพŒใซ็›ดๆŽฅๅฝฑ้Ÿฟใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใจใ—ใฆ๏ผŒใ‚ˆใ‚Šๆ—ฉๆœŸใ‚ใ‚‹ใ„ใฏ่ปฝ็—‡ใฎๆฎต้šŽใ‹ใ‚‰๏ผŒ็ฉๆฅต็š„ใซ่จบๆ–ญใƒปๆฒป็™‚ไป‹ๅ…ฅใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใจใชใ‚Š๏ผŒๅพ“ๆฅใฎARFใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury:AKI)ใธ๏ผŒใ‚ˆใ‚ŠๅŒ…ๆ‹ฌ็š„ใซๆ€ฅๆฟ€ใช่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ใใŸใ™็—…ๆ…‹ใŒๆๅ”ฑใ•ใ‚Œใ‚‹ใซ่‡ณใฃใŸใ€‚ใ€€ใ—ใ‹ใ—๏ผŒๅฐๅ…AKIใฎๆญปไบก็Ž‡ใฏ๏ผŒ่ฟ‘ๅนดใฎ่…Žไปฃๆ›ฟ็™‚ๆณ•ใฎ้€ฒๆญฉใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ35๏ฝž73%ใจไธ่‰ฏใงใ‚ใ‚‹ใ€‚็‰นใซ๏ผŒๆ•—่ก€็—‡ๅˆไฝตไพ‹๏ผŒๅฟƒ็–พๆ‚ฃๆ‰‹่ก“ไพ‹๏ผŒๆ‚ชๆ€ง่…ซ็˜ๅˆไฝตไพ‹๏ผŒใใ—ใฆๅคš่‡“ๅ™จไธๅ…จไพ‹ใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒAKIใ‹ใ‚‰ๅ›žๅพฉใ—ใฆใ‚‚CKDใซ็งป่กŒใ™ใ‚‹็ขบ็Ž‡ใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใพใงใฎๅ ฑๅ‘Šใง40๏ฝž60%ใซ้”ใ™ใ‚‹ใ€‚" + "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“๏ผˆPDHC๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ—ใ€ๅซŒๆฐ—ๆ€ง่งฃ็ณ–็ณปใงใƒ–ใƒ‰ใ‚ฆ็ณ–ใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใƒ”ใƒซใƒ“ใƒณ้…ธใ‚’ใ‚ขใ‚ปใƒใƒซ-CoAใซๅค‰ๆ›ใ—ใฆTCAๅ›ž่ทฏใซ้€ใ‚Š่พผใ‚€ใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎใŸใ‚ใซ้žๅธธใซๅคงๅˆ‡ใช้…ต็ด ่ค‡ๅˆไฝ“ใงใ‚ใ‚‹๏ผˆๅ›ณ1๏ผ‰1)ใ€‚ๅพ“ใฃใฆๆœฌๆฌ ๆ็—‡ใงใฏใ‚ขใ‚ปใƒใƒซ-CoAไธ่ถณใซใ‚ˆใ‚ŠTCAใ‚ตใ‚คใ‚ฏใƒซใŒๅ›žใ‚‰ใชใใชใ‚Šใ€ใใฎ็ตๆžœใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใงใฎATP็”ฃ็”ŸใŒไฝŽไธ‹ใ—็ต„็น”ใƒป่‡“ๅ™จใŒใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚‹ใ€‚ใ•ใ‚‰ใซๅŸบ่ณชใงใ‚ใ‚‹ใƒ”ใƒซใƒ“ใƒณ้…ธใŒ่“„็ฉใ—ไนณ้…ธใซ่ปขๆ›ใ•ใ‚Œใ‚‹็ตๆžœใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใŒ็”Ÿใšใ‚‹ใ€‚ใคใพใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใจไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซใ‚ˆใ‚‹็ต„็น”้šœๅฎณใŒๆœฌ็—‡ใฎ็—…ๆ…‹ใงใ‚ใ‚‹2)ใ€‚" @ja
dcterms:identifier2200149NANDO:2200518
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_050_01.pdf
rdfs:label - "Chronic renal failure due to acute tubular necrosis or renal ischemias" + "Pyruvate dehydrogenase complex deficiency" @en
rdfs:label - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ ใฃใ™ใ„ใใ“ใ†ใใตใใ”ใ†ใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_15_035/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00072
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_050/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100023http://nanbyodata.jp/ontology/NANDO_2100163
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019169
skos:prefLabel - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200150 +
http://nanbyodata.jp/ontology/NANDO_2200519 (rdf:type owl:Class @@ -101283,55 +155448,84 @@

hasNotificationNumber45hasNotificationNumber87
+ dcterms:description + "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ๆฌ ๆ็—‡ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ™ใ‚‹็ณ–ๆ–ฐ็”Ÿ็ณปใฎๅพ‹้€Ÿ้…ต็ด ใงใ‚ใ‚Šใ€ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ—ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‹ใ‚‰ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’็”Ÿๆˆใ™ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰ใ€‚่‡จๅบŠ็—‡็Šถใ‚’ๅฝขไฝœใ‚‹ใฎใฏใ€ไฝŽ่ก€็ณ–ใจใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธไฝŽๅ€คใŒใ‚‚ใŸใ‚‰ใ™TCAๅ›ž่ทฏใฎไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใ€ใ•ใ‚‰ใซ้‡็—‡ไพ‹ใงใฏใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธ็”ฑๆฅใฎใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใฎไธ่ถณใซใ‚ˆใ‚‹ๅฐฟ็ด ๅ›ž่ทฏไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚‚ๅ•้กŒใซใชใ‚‹1)ใ€‚" + @ja
dcterms:identifier2200150NANDO:2200519
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_051_01.pdf
rdfs:label - "Chronic renal failure due to acute tubular necrosis" + "Pyruvate carboxylase deficiency" @en
rdfs:label - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_15_035/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2936
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00073
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200149http://nanbyodata.jp/ontology/NANDO_2100163
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009949
skos:prefLabel - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200151 +
http://nanbyodata.jp/ontology/NANDO_2200520 (rdf:type owl:Class @@ -101339,55 +155533,84 @@

hasNotificationNumber45hasNotificationNumber89
+ dcterms:description + "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ•ใƒžใƒซ้…ธใ‚’ใƒชใƒณใ‚ด้…ธใซๅค‰ๆ›ใ™ใ‚‹TCAๅ›ž่ทฏใฎไธป่ฆๆง‹ๆˆ้…ต็ด ใงใ‚ใ‚‹ใƒ•ใƒžใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰1)ใ€‚่„ณๅฅ‡ๅฝขใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใฎ้‡็ฏคใชไธญๆžข็ฅž็ตŒ็—‡็Šถใจใ€ใƒ•ใƒžใƒซ้…ธใฎๅฐฟไธญๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200151NANDO:2200520
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_15_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_052_01.pdf
rdfs:label - "Chronic renal failure due to renal ischemias" + "Fumarase deficiency" @en
rdfs:label - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใตใพใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_15_035/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4495
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02004
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200149http://nanbyodata.jp/ontology/NANDO_2100163
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011730
skos:prefLabel - "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใ™ใใ—ใซใ‚‹ใ“ใˆใƒผใ‚ŠใŒใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200152 +
http://nanbyodata.jp/ontology/NANDO_2200521 (rdf:type owl:Class @@ -101395,79 +155618,69 @@

hasNotificationNumber8hasNotificationNumber86
dcterms:description - "่…Žใฎ็•ฐๅฝขๆˆใ‚’ไผดใ‚ใชใ„ไธกๅดๆ€งใณใพใ‚“ๆ€งๅšข่ƒžๅฝขๆˆใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง่…Ž็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผˆADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผˆARPKD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใฉใกใ‚‰ใ‚‚็–พๆ‚ฃ่‡ชไฝ“ใซๅฏพใ™ใ‚‹ๆฒป็™‚ๆณ•ใฏใชใ๏ผŒ่…Žไธๅ…จใฎๆฒป็™‚ใ‚„ๅˆไฝต็—‡ๆฒป็™‚๏ผŒๅฏพ็—‡็™‚ๆณ•ใŒไธปไฝ“ใจใชใ‚‹ใ€‚" + "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผ๏ผˆSUCL๏ผ‰ๆฌ ๆ็—‡ใฏใ€TCAใ‚ตใ‚คใ‚ฏใƒซใฎไธ€ๅ› ใงใ‚‚ใ‚ใ‚‹SUCLใฎๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธใจใƒกใƒใƒซใƒžใƒญใƒณ้…ธใฎๅฐฟไธญใธใฎๅฐ‘้‡ๆŽ’ๆณ„ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ1)ใงใ‚ใ‚Šใ€ๅคใใฏใƒกใƒใƒซใƒžใƒญใƒณ้…ธๅฐฟใ‚’ไผดใ†Leigh่„ณ็—‡ใจใ‚ˆใฐใ‚Œใฆใ„ใŸ็–พ็—…ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200152NANDO:2200521
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_053_01.pdf
rdfs:label - "Polycystic kidney disease" + "Succinyl-CoA ligase deficiency" @en
rdfs:label - "ๅคš็™บๆ€งๅšข่ƒž่…Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00542 + rdfs:label + "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_036/https://www.shouman.jp/disease/details/08_04_053/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100024
- skos:altLabel - "PKD" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020642http://nanbyodata.jp/ontology/NANDO_2100163
skos:prefLabel - "ๅคš็™บๆ€งๅšข่ƒž่…Ž" + "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200153 +
http://nanbyodata.jp/ontology/NANDO_2200522 (rdf:type owl:Class @@ -101475,67 +155688,74 @@

hasNotificationNumber9hasNotificationNumber90
+ dcterms:description + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅฝนๅ‰ฒใฏๅคšๆ•ฐใ‚ใ‚‹ใŒใ€ๆœ€ใ‚‚ๅคงๅˆ‡ใชใฎใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚Šใ€ใใฎๅฝนๅ‰ฒใ‚’ๆ‹…ใ†ใฎใŒๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ใ€ŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“็•ฐๅธธ็—‡๏ผˆMRCD๏ผ‰ใ€ใจ่ชญใฟๆ›ฟใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ใ„ใ‹ใชใ‚‹็—‡็Šถใ€ใ„ใ‹ใชใ‚‹่‡“ๅ™จใƒป็ต„็น”ใ€ใ„ใ‹ใชใ‚‹ๅนด้ฝขใ€ใใ—ใฆใ„ใ‹ใชใ‚‹้บไผๅฝขๅผใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใฎใŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ็ฅž็ตŒใƒป็ญ‹่‚‰ใฎ็—…ๆฐ—ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅฟƒ็ญ‹็—‡ใ€่‚็—‡ใชใฉๅ˜็‹ฌใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ‚‚ๅคšใ„1)ใ€‚" + @ja
dcterms:identifier2200153NANDO:2200522
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_054_01.pdf
rdfs:label - "Autosomal dominant PKD" + "Mitochondrial respiratory chain disorders" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคšๅšข่ƒž่…Ž" + "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใ“ใใ‚…ใ†ใ•ใตใใ”ใ†ใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_037/https://www.shouman.jp/disease/details/08_04_054/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200152
- skos:altLabel - "ADPKD" - @enhttp://nanbyodata.jp/ontology/NANDO_2100163
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004691http://purl.obolibrary.org/obo/MONDO_0017718
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคšๅšข่ƒž่…Ž" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200154 +
http://nanbyodata.jp/ontology/NANDO_2200523 (rdf:type owl:Class @@ -101543,72 +155763,79 @@

hasNotificationNumber6hasNotificationNumber92
+ dcterms:description + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA๏ผˆmtDNA๏ผ‰้‡ใŒไฝ•ใ‹ใฎๅŽŸๅ› ใงๆธ›ๅฐ‘ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใŒ้˜ปๅฎณใ•ใ‚ŒๆฉŸ่ƒฝ้šœๅฎณใฎ่ตทใ“ใ‚‹็–พๆ‚ฃ็พคใ‚’็ท็งฐใ—ใฆmtDNAๆžฏๆธ‡็—‡ๅ€™็พค๏ผšmitochondrial DNA depletion syndrome (MTDPS)ใจ็งฐใ™ใ‚‹ใ€‚ไธ€ๆฌก็š„็—…ๅ› ใฏๆ ธใซใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚Šใ€ใใฎ็ตๆžœใจใ—ใฆไบŒๆฌก็š„ใซmtDNA้‡ใฎๆžฏๆธ‡ใ‚’ไธญๅฟƒใซใ€ๆ™‚ใซๅคš้‡ๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใฎๆง˜ใช็•ฐๅธธใ‚’ใ‚‚ๆฅใŸใ™็–พๆ‚ฃ็พคใงใ€ๆ ธDNAใจmtDNAใฎใ‚ฒใƒŽใƒ ้–“ใ‚ณใƒŸใƒฅใƒ‹ใ‚ฑใƒผใ‚ทใƒงใƒณใฎ้šœๅฎณ๏ผˆdefects in intergenomic communication๏ผ‰ใจ่จ€ใ†ๆฆ‚ๅฟตใงใจใ‚‰ใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚" + @ja
dcterms:identifier2200154NANDO:2200523
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_055_01.pdf
rdfs:label - "Autosomal recessive PKD" + "Mitochondrial DNA depletion syndrome" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคšๅšข่ƒž่…Ž" + "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใ“ใ‹ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2873https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00469
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_038/https://www.shouman.jp/disease/details/08_04_055/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200152
- skos:altLabel - "ARPKD" - @enhttp://nanbyodata.jp/ontology/NANDO_2100163
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009889http://purl.obolibrary.org/obo/MONDO_0018158
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคšๅšข่ƒž่…Ž" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200155 +
http://nanbyodata.jp/ontology/NANDO_2200524 (rdf:type owl:Class @@ -101616,62 +155843,74 @@

hasNotificationNumber10hasNotificationNumber93
dcterms:description - "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚" @ja
dcterms:identifier2200155NANDO:2200524
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label - "Hypoplastic kidney" + "Diseases due to mitochondrial DNA mutation" @en
rdfs:label - "ไฝŽๅฝขๆˆ่…Ž" + "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใจใคใœใ‚“ใธใ‚“ใ„" + @ja-Hira
+ rdfs:label + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_039/https://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100024http://nanbyodata.jp/ontology/NANDO_2100163
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016793
skos:prefLabel - "ไฝŽๅฝขๆˆ่…Ž" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ" @ja
- - + - - - - - - + + - + - + + + + + + "ใ‚ใ‚‰ใ™" + @ja-Hira - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200156 +
http://nanbyodata.jp/ontology/NANDO_2200525 (rdf:type owl:Class @@ -101679,77 +155918,86 @@

hasNotificationNumber7
- dcterms:description - "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž(multicystic dysplastic kidney๏ผšMCDK)ใฏ๏ผŒๅšข่ƒžๅฝขๆˆใ‚’ไธปไฝ“ใจใ™ใ‚‹็•ฐๅฝขๆˆ่…Žใงใ‚ใ‚‹ใ€‚็•ฐๅฝขๆˆ่…Žใจใฏ๏ผŒๅพŒ่…Ž้–“่‘‰็ต„็น”ใ‚„ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅŒ–ใŒ็•ฐๅธธใงไธๅฎŒๅ…จใชใ‚‚ใฎใ‚’ๆŒ‡ใ—๏ผŒ็ทš็ถญ็ญ‹็ต„็น”ใŒprimitive duct (ๅŽŸๅง‹้›†ๅˆ็ฎก)ใ‚’ๅ–ใ‚Šๅทปใใจใ„ใ†๏ผŒ็‰นๅพด็š„ใช็ต„็น”ๅƒใซๅŸบใฅใ„ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚MCDKใงใฏ๏ผŒๅคงๅฐๆง˜ใ€…ใชๅšข่ƒžใŒๅคšๆ•ฐๅญ˜ๅœจใ—๏ผŒๅšข่ƒž้–“ใซ็•ฐๅฝขๆˆ็ต„็น”ใŒใ‚ใšใ‹ใซไป‹ๅœจใ™ใ‚‹ใฎใฟใง๏ผŒๅŸบๆœฌ็š„ใซ็„กๆฉŸ่ƒฝ่…Žใงใ‚ใ‚‹(1)ใ€‚ๆญฃๅธธใช่…Ž็›‚ใฏๅฝขๆˆใ•ใ‚Œใš๏ผŒๅฐฟ็ฎกใ‚‚่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‹้–‰ๅกžใ—ใฆใ„ใ‚‹ใ€‚ๅšข่ƒžใฏ่‡ช็„ถใซ้€€็ธฎใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้€šๅธธ็‰‡ๅดๆ€งใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใŒ๏ผŒไธกๅดๆ€งใซใ‚‚็”Ÿใ˜๏ผŒใใฎๅ ดๅˆPotter็—‡ๅ€™็พคใจใชใ‚Š่‡ดๆญป็š„ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ใ‚จใ‚ณใƒผใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ไพ‹ใŒๅคšใ๏ผŒ้ ปๅบฆใฏๅ‡บ็”Ÿ4300ไพ‹ใซ1ไพ‹ใจๅ…ˆๅคฉๆ€ง่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใฎไธญใงใฏ้ ปๅบฆใŒ้ซ˜ใ„(2)ใ€‚ๅทฆๅดใซๅคšใ๏ผŒ็”ทๅ…ใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๅคงใใชๅทฎใฏใชใ„ใ€‚" - @jahasNotificationNumber93
dcterms:identifier2200156NANDO:2200525
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label - "Renal aplasia" + "MELAS" + @ja
+ rdfs:label + "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)" @en
rdfs:label - "่…Ž็„กๅฝขๆˆ" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1603http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3605
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_040/https://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100024http://nanbyodata.jp/ontology/NANDO_2200524
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018470 + skos:altLabel + "MELAS" + @en
+ skos:altLabel + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024519http://purl.obolibrary.org/obo/MONDO_0010789
skos:prefLabel - "่…Ž็„กๅฝขๆˆ" + "MELAS" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200157 +
http://nanbyodata.jp/ontology/NANDO_2200526 (rdf:type owl:Class @@ -101757,86 +156005,86 @@

hasNotificationNumber5
- dcterms:description - "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚" - @jahasNotificationNumber93
dcterms:identifier2200157NANDO:2200526
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label - "Potter syndrome" + "Myoclonus epilepsy associated with ragged-red fibers" @en
rdfs:label - "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค" + "ใ›ใใ—ใ‚‡ใใผใ‚ใ›ใ‚“ใ„ใƒปใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01728http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3606
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_041/https://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100024http://nanbyodata.jp/ontology/NANDO_2200524
skos:altLabel - "Potter sequence" + "MERRF" @en
skos:altLabel - "Potter็—‡ๅ€™็พค" + "MERRF" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001558http://purl.obolibrary.org/obo/MONDO_0010790
skos:prefLabel - "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค" + "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + "Leigh็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200158 +
http://nanbyodata.jp/ontology/NANDO_2200527 (rdf:type owl:Class @@ -101844,74 +156092,84 @@

hasNotificationNumber5
- dcterms:description - "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚" - @jahasNotificationNumber93
dcterms:identifier2200158NANDO:2200527
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label - "Multicystic dysplastic kidney" + "Leigh syndrome" @en
rdfs:label - "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž" + "ใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒชใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_041/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2709
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01354
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100024http://nanbyodata.jp/ontology/NANDO_2200524
skos:altLabel - "MCDK" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015988http://purl.obolibrary.org/obo/MONDO_0009723
skos:prefLabel - "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž" + "ใƒชใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200159 +
http://nanbyodata.jp/ontology/NANDO_2200528 (rdf:type owl:Class @@ -101919,67 +156177,74 @@

hasNotificationNumber5hasNotificationNumber91
dcterms:description - "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚" @ja
dcterms:identifier2200159NANDO:2200528
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_057_01.pdf
rdfs:label - "Oligomeganephronia" + "Diseases due to mitochondrial DNA deletion" @en
rdfs:label - "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡" + "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใ‘ใฃใ—ใค" + @ja-Hira
+ rdfs:label + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_041/https://www.shouman.jp/disease/details/08_04_057/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100024http://nanbyodata.jp/ontology/NANDO_2100163
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016407http://purl.obolibrary.org/obo/MONDO_0018158
skos:prefLabel - "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡" + "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ" @ja
- - + - - - - - - + + - + - + + "Kearns-Sayre syndrome" + @en + "ใ‹ใƒผใ‚“ใšใƒปใ›ใ„ใ‚„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200160 +
http://nanbyodata.jp/ontology/NANDO_2200529 (rdf:type owl:Class @@ -101987,62 +156252,77 @@

hasNotificationNumber11
- dcterms:description - "่…Žๅฅ‡ๅฝขใฏ้บไผๆ€ง๏ผŒ้ž้บไผๆ€งใซ่…Žใฎ็™บ็”Ÿๆฎต้šŽใง็”Ÿใ˜ใ‚‹็•ฐๅธธใงใ‚ใ‚Šไปฅไธ‹ใฎใ‚ˆใ†ใชใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber91
dcterms:identifier2200160NANDO:2200529
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_057_01.pdf
rdfs:label - "36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข" - @ja
rdfs:label - "Other renal malformations" - @en
+ rdfs:label + "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3603
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01355
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_057/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100024http://nanbyodata.jp/ontology/NANDO_2200528
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010787
skos:prefLabel - "36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข" + "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "50ใ‹ใ‚‰57ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200161 +
http://nanbyodata.jp/ontology/NANDO_2200530 (rdf:type owl:Class @@ -102050,60 +156330,69 @@

hasNotificationNumber11hasNotificationNumber94
+ dcterms:description + "ไธ€ใคใฎ็ดฐ่ƒžใซๆ•ฐ็™พๅ€‹ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใŒๅ…ฅใฃใฆใ„ใฆใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏ็ดฐ่ƒžใซๅฟ…่ฆใชใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใจ็ดฐ่ƒžใฎๅƒใใŒๆ‚ชใใชใ‚Šใ€ใ•ใพใ–ใพใช็—‡็ŠถใŒ็พใ‚Œใ‚‹ใ€‚ไฝ“ใฎใฉใ“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ‹ใซใ‚ˆใฃใฆ็—‡็Šถใฏ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹50ใ€œ57ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนดๆ–ฐ่ฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใŒๆฌกใ€…ใซ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใฎใ‚‚ไบ‹ๅฎŸใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200161NANDO:2200530
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_04_058_01.pdf
rdfs:label - "renal dysplasia" - @en
rdfs:label - "่…Ž็•ฐๅฝขๆˆ" + "50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" @ja
+ rdfs:label + "Other mitochondrial diseases" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/https://www.shouman.jp/disease/details/08_04_058/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019638http://nanbyodata.jp/ontology/NANDO_2100163
skos:prefLabel - "่…Ž็•ฐๅฝขๆˆ" + "50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200162 +
http://nanbyodata.jp/ontology/NANDO_2200531 (rdf:type owl:Class @@ -102111,55 +156400,86 @@

hasNotificationNumber11hasNotificationNumber58
+ dcterms:description + "ๆžœ็ณ–ใƒป่”—็ณ–็ญ‰ใ‚’ๅซใ‚€้ฃŸๅ“ๆ‘‚ๅ–ๅพŒใ€็Ÿญๆ™‚้–“ใงๅ‡บ็พใ™ใ‚‹ไฝŽ่ก€็ณ–ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ๏ผˆOMIM #22960๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏ้›ขไนณ้ฃŸๅฐŽๅ…ฅ้ ƒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‚่…Ž็ต„็น”้šœๅฎณใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ—ใฆ่‡ดๆญป็š„ใจใชใ‚Šใ†ใ‚‹ใŒใ€ๅŽŸๅ› ็ณ–่ณชใฎ้™คๅŽป้ฃŸใซใ‚ˆใฃใฆ่ปฝๅฟซใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200162NANDO:2200531
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_059_01.pdf
rdfs:label - "Supernumerary kidney" + "Hereditary fructose intolerance" @en
rdfs:label - "้Žๅ‰ฐ่…Ž" + "ใ„ใงใ‚“ใ›ใ„ใตใ‚‹ใใจใƒผใ™ใตใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2238
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_059/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:altLabel + "HFI" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009249
skos:prefLabel - "้Žๅ‰ฐ่…Ž" + "้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200163 +
http://nanbyodata.jp/ontology/NANDO_2200532 (rdf:type owl:Class @@ -102167,62 +156487,84 @@

hasNotificationNumber11hasNotificationNumber60
+ dcterms:description + "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใงใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใŒ็”Ÿใ˜ใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜็จฎใ€…ใฎ้šœๅฎณใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚" + @ja
dcterms:identifier2200163NANDO:2200532
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_060_01.pdf
rdfs:label - "Pelvic kidney" + "Galactose-1-phosphate uridyltransferase deficiency" @en
rdfs:label - "้ชจ็›ค่…Ž" + "ใŒใ‚‰ใใจใƒผใ™1ใ‚Šใ‚“ใ•ใ‚“ใ†ใ‚Šใ˜ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://nanbyodata.jp/ontology/NANDO_1200851
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2246
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_060/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
- skos:altLabel - "Ectopic pelvic kidney" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009258
skos:prefLabel - "้ชจ็›ค่…Ž" + "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200164 +
http://nanbyodata.jp/ontology/NANDO_2200533 (rdf:type owl:Class @@ -102230,62 +156572,84 @@

hasNotificationNumber11hasNotificationNumber61
+ dcterms:description + "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฎ่“„็ฉใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚" + @ja
dcterms:identifier2200164NANDO:2200533
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_061_01.pdf
rdfs:label - "crossed renal ectopia without fusion" + "Galactokinase deficiency" @en
rdfs:label - "ไบคๅทฎๆ€งๅค‰ไฝ่…Ž" + "ใŒใ‚‰ใใจใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2243
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02009
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_061/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
- skos:altLabel - "้ž่žๅˆๆ€งไบคๅ‰ๆ€ง่…Žๅค‰ไฝ" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009255
skos:prefLabel - "ไบคๅทฎๆ€งๅค‰ไฝ่…Ž" + "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200165 +
http://nanbyodata.jp/ontology/NANDO_2200534 (rdf:type owl:Class @@ -102293,62 +156657,79 @@

hasNotificationNumber11hasNotificationNumber59
+ dcterms:description + "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š็”Ÿๆˆใ—ใŸ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผฅ๏ผ‰ใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-๏ผ”-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚ŒใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹ใŒใ€ๅคšใใฏๅ…จ่บซ็—‡็Šถใ‚’็คบใ•ใชใ„้ƒจๅˆ†ๅž‹ใงไบˆๅพŒ่‰ฏๅฅฝใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚" + @ja
dcterms:identifier2200165NANDO:2200534
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_062_01.pdf
rdfs:label - "lumber ectopic kidney" + "UDP-galactose-4-epimerase deficiency" @en
rdfs:label - "่…ฐ้ƒจๅค‰ไฝ่…Ž" + "ใ†ใ‚Šใ˜ใ‚‹ใซใ‚Šใ‚“ใ•ใ‚“ใŒใ‚‰ใใจใƒผใ™4ใˆใดใ‚ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2245
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_062/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
- skos:altLabel - "lumber kidney " - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009257
skos:prefLabel - "่…ฐ้ƒจๅค‰ไฝ่…Ž" + "ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200166 +
http://nanbyodata.jp/ontology/NANDO_2200535 (rdf:type owl:Class @@ -102356,55 +156737,84 @@

hasNotificationNumber11hasNotificationNumber71
+ dcterms:description + "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆFBPase๏ผ‰ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ใฎ็ณ–ๆ–ฐ็”ŸใซใŠใ„ใฆใ€ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ไบŒใƒชใƒณ้…ธใ‹ใ‚‰ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-6-ใƒชใƒณ้…ธใธใฎๅค‰ๆ›ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚FBPaseๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿๅข—ๅŠ ใ‚’ใใŸใ™ใ€‚" + @ja
dcterms:identifier2200166NANDO:2200535
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_063_01.pdf
rdfs:label - "throacic kidney" + "Fructose-1,6-bisphosphatase deficiency" @en
rdfs:label - "่ƒธ้ƒจ่…Ž" + "ใตใ‚‹ใใจใƒผใ™1,6ใณใ™ใปใ™ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2239
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00114
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_063/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009251
skos:prefLabel - "่ƒธ้ƒจ่…Ž" + "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200167 +
http://nanbyodata.jp/ontology/NANDO_2200536 (rdf:type owl:Class @@ -102412,55 +156822,74 @@

hasNotificationNumber11hasNotificationNumber72
+ dcterms:description + "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผ๏ผˆPEPCK๏ผ‰ใฏใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใธใจๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขPEPCK ใจ็ดฐ่ƒž่ณชPEPCKใฎ2ใคใฎใ‚ขใ‚คใ‚ฝใ‚ถใ‚คใƒ ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚PEPCKๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ไนณ้…ธใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใฎ็ณ–ๆ–ฐ็”Ÿ็ณปใซใŠใ‘ใ‚‹ๅˆฉ็”จใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ‚’ๆฅใ—ใ€ๅคš่‡“ๅ™จใฎ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2200167NANDO:2200536
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_064_01.pdf
rdfs:label - "crossed fused kidney" + "Phosphoenolpyruvate carboxykinase deficiency" @en
rdfs:label - "ไบคๅทฎๆ€ง่žๅˆ่…Ž" + "ใปใ™ใปใˆใฎใƒผใ‚‹ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ‹ใ‚‹ใผใใ—ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/https://www.shouman.jp/disease/details/08_05_064/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017320
skos:prefLabel - "ไบคๅทฎๆ€ง่žๅˆ่…Ž" + "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200168 +
http://nanbyodata.jp/ontology/NANDO_2200537 (rdf:type owl:Class @@ -102468,55 +156897,86 @@

hasNotificationNumber11hasNotificationNumber62
+ dcterms:description + "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0ๅž‹๏ผ‰ใฏใ€UDP-ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’ๅŸบ่ณชใจใ—ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1,4็ตๅˆใซใ‚ฐใƒซใ‚ณใƒผใ‚นๅˆ†ๅญใ‚’ไป˜ๅŠ ใ—ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้Ž–ใ‚’ไผธ้•ทใ™ใ‚‹้…ต็ด ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€็ต„็น”ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒๆฌ ๆใ‚‚ใ—ใใฏ่‘—ใ—ใไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0aๅž‹๏ผ‰ใจ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0bๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200168NANDO:2200537
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_065_01.pdf
rdfs:label - "fused pelvic kidney" + "Glycogen synthase deficiency" @en
rdfs:label - "้ชจ็›ค้ƒจ่žๅˆ่…Ž" + "ใใ‚Šใ“ใƒผใ’ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2404
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_065/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:altLabel + "็ณ–ๅŽŸ็—…0ๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009414
skos:prefLabel - "้ชจ็›ค้ƒจ่žๅˆ่…Ž" + "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200169 +
http://nanbyodata.jp/ontology/NANDO_2200538 (rdf:type owl:Class @@ -102524,55 +156984,74 @@

hasNotificationNumber11hasNotificationNumber64
+ dcterms:description + "็ณ–ๅŽŸ็—…Iๅž‹ใฏใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธใ‚’ๅŠ ๆฐดๅˆ†่งฃใ—ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’็”Ÿๆˆใ€่ผธ้€ใ™ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆG6Pase๏ผ‰ๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ€Iaๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ–-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใจIbๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ ใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡)ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใ€่…Ž่‡“ใ€่…ธ็ฎกใซๅคš้‡ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ไฝŽ่ก€็ณ–ใจ่‚่…ซๅคงใŒๅ‡บ็พใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200169NANDO:2200538
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_066_01.pdf
rdfs:label - "horseshoe kidney" + "Glycogen storage disease type I" @en
rdfs:label - "้ฆฌ่น„่…Ž" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…Iๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/https://www.shouman.jp/disease/details/08_05_066/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002413
skos:prefLabel - "้ฆฌ่น„่…Ž" + "็ณ–ๅŽŸ็—…Iๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + "Cori disease" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#2200170 +
http://nanbyodata.jp/ontology/NANDO_2200539 (rdf:type owl:Class @@ -102580,72 +157059,93 @@

hasNotificationNumber11hasNotificationNumber65
+ dcterms:description + "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆCori็—…๏ผ‰ใฏใ€ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ (4-ฮฑ-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ) ๆดปๆ€งใจใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆใ‚ขใƒŸใƒญ-ฮฑ-1,6-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ใฎๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้™็•Œใƒ‡ใ‚ญใ‚นใƒˆใƒชใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚ๆฌ ๆๆดปๆ€งใฎ็จฎ้กžใจ็ฝนๆ‚ฃ่‡“ๅ™จใซใ‚ˆใ‚Šโ‘ IIIaๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰โ‘กIIIbๅž‹๏ผˆ่‚ๅž‹๏ผ‰โ‘ขIIIdๅž‹ใ€€๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2200170NANDO:2200539
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_067_01.pdf
rdfs:label - "medullary cystic kidney disease" + "Glycogen storage disease type III" @en
rdfs:label - "้ซ„่ณชๅšข่ƒž่…Ž" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IIIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
skos:altLabel - "้ซ„่ณชๆ€งๅšข่ƒž่…Ž" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008264 + skos:altLabel + "Cori็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019005http://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "้ซ„่ณชๅšข่ƒž่…Ž" + "็ณ–ๅŽŸ็—…IIIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200171 +
http://nanbyodata.jp/ontology/NANDO_2200540 (rdf:type owl:Class @@ -102653,55 +157153,79 @@

hasNotificationNumber11hasNotificationNumber66
+ dcterms:description + "็ณ–ๅŽŸ็—…IVๅž‹ใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆ†ๆž้Ž–้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซๅˆ†ๆž้Ž–ใฎๅฐ‘ใชใ„ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒณๆง˜ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚่‚่„พ่…ซใ€็ญ‹ๅŠ›ไฝŽไธ‹ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚่‚่‡“ใ‚„็ญ‹ใฎ็ต„็น”็—…็†ใงใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใซ่‡ณใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‡จๅบŠ็—…ๅž‹ใซใฏโ‘ ่‚ๅž‹๏ผˆ้‡็—‡่‚็กฌๅค‰ๅž‹๏ผ‰โ‘ก้ž้€ฒ่กŒๆ€ง่‚ๅž‹ใ€€โ‘ข่‡ดๆญปๆ–ฐ็”Ÿๅ…็ฅž็ตŒใƒป็ญ‹ๅž‹ใ€€โ‘ฃๅนผๅ…็ญ‹ใƒป่‚ๅž‹ใ€€โ‘คๆˆไบบๅž‹๏ผˆใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…๏ผ‰ใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200171NANDO:2200540
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_068_01.pdf
rdfs:label - "multilocular cysts of the kidney" + "Glycogen storage disease type IV" @en
rdfs:label - "ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IVๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2281
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009292
skos:prefLabel - "ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž" + "็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200172 +
http://nanbyodata.jp/ontology/NANDO_2200541 (rdf:type owl:Class @@ -102709,55 +157233,79 @@

hasNotificationNumber11hasNotificationNumber67
+ dcterms:description + "็ณ–ๅŽŸ็—…Vๅž‹๏ผˆMcArdle็—…๏ผ‰ใฏ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200172NANDO:2200541
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_069_01.pdf
rdfs:label - "simple renal cyst" + "Glycogen storage disease type V" @en
rdfs:label - "ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†5ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…Vๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2282
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_069/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009293
skos:prefLabel - "ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž" + "็ณ–ๅŽŸ็—…Vๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200173 +
http://nanbyodata.jp/ontology/NANDO_2200542 (rdf:type owl:Class @@ -102765,60 +157313,86 @@

hasNotificationNumber11hasNotificationNumber68
+ dcterms:description + "็ณ–ๅŽŸ็—…VIๅž‹ใฏ่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚็ต„็น”ใงใฎๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใŒ้šœๅฎณใ•ใ‚Œใ€่‚่…ซๅคงใ‚„ไฝŽ่ก€็ณ–ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200173NANDO:2200542
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_070_01.pdf
rdfs:label - "Medullary Sponge Kidney" + "Glycogen storage disease type VI" @en
rdfs:label - "้ซ„่ณชๆตท็ถฟ่…Ž" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†6ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…VIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2283
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_070/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:altLabel + "ใƒใƒผใ‚น็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015268http://purl.obolibrary.org/obo/MONDO_0009294
skos:prefLabel - "้ซ„่ณชๆตท็ถฟ่…Ž" + "็ณ–ๅŽŸ็—…VIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200174 +
http://nanbyodata.jp/ontology/NANDO_2200543 (rdf:type owl:Class @@ -102826,62 +157400,79 @@

hasNotificationNumber11hasNotificationNumber69
+ dcterms:description + "็ณ–ๅŽŸ็—…VIIๅž‹๏ผˆTarui็—…๏ผ‰ใฏ็ญ‹ใƒ›ใ‚นใƒ›ใƒ•ใƒซใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€1965ๅนดใซๅž‚ไบ•ใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๆบถ่ก€ใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2200174NANDO:2200543
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_071_01.pdf
rdfs:label - "acquired cystic disease of the kidney" + "Glycogen storage disease type VII" @en
rdfs:label - "ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†7ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…VIIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2284
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_071/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
- skos:altLabel - "ๅคšๅšข่ƒžๅŒ–่Ž็ธฎ่…Ž " - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009295
skos:prefLabel - "ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ" + "็ณ–ๅŽŸ็—…VIIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200175 +
http://nanbyodata.jp/ontology/NANDO_2200544 (rdf:type owl:Class @@ -102889,55 +157480,74 @@

hasNotificationNumber11hasNotificationNumber70
+ dcterms:description + "็ณ–ๅŽŸ็—…IXๅž‹ใฏๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚’b๏ผˆ้žๆดปๆ€งๅž‹๏ผ‰ใ‹ใ‚‰a(ๆดปๆ€งๅž‹)ใซๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใ€ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚ญใƒŠใƒผใ‚ผใฎๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’็”Ÿใ˜ใ‚‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใจ็™บ็พ่‡“ๅ™จใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ๅฐ‘ใชใใจใ‚‚๏ผ”ใคใฎ็—…ๅž‹ใŒ็Ÿฅใ‚‰ใ‚Œใ€‚X้€ฃ้Ž–ๆ€ง่‚ๅž‹ใฎIXaๅž‹๏ผˆๅˆฅๅX้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…ใ€X-linked liver glycogenosis;ใ€€XLG๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚" + @ja
dcterms:identifier2200175NANDO:2200544
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_072_01.pdf
rdfs:label - "calyceal diverticulum" + "Glycogen storage disease type IX" @en
rdfs:label - "่…Žๆฏๆ†ฉๅฎค" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IXๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/https://www.shouman.jp/disease/details/08_05_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018251
skos:prefLabel - "่…Žๆฏๆ†ฉๅฎค" + "็ณ–ๅŽŸ็—…IXๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200176 +
http://nanbyodata.jp/ontology/NANDO_2200545 (rdf:type owl:Class @@ -102945,65 +157555,91 @@

hasNotificationNumber11hasNotificationNumber63
+ dcterms:description + "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ (GLUT1) ๆฌ ๆ็—‡ใฏSLC2A1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š่ก€ๆถฒ่„ณ้–ข้–€ใ‹ใ‚‰่„ณๅ†…ใธใฎใ‚ฐใƒซใ‚ณใƒผใ‚นใฎๅ–ใ‚Š่พผใฟใŒ้šœๅฎณใ•ใ‚Œใ€ไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟใ€ไธ้šๆ„้‹ๅ‹•ใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้ซ„ๆถฒ็ณ–ใฎๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200176NANDO:2200545
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_073_01.pdf
rdfs:label - "ureteropelvic junction obstruction" + "Glucose transporter 1 deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡" + "ใใ‚‹ใ“ใƒผใ™ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=735http://nanbyodata.jp/ontology/NANDO_1200799
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4492
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
+ skos:altLabel + "GLUT1ๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0027676http://purl.obolibrary.org/obo/MONDO_0011724
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡" + "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + "59ใ‹ใ‚‰73ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใจใ†ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200177 +
http://nanbyodata.jp/ontology/NANDO_2200546 (rdf:type owl:Class @@ -103011,55 +157647,69 @@

hasNotificationNumber11hasNotificationNumber73
+ dcterms:description + "็ณ–่ณชใฏ้ฃŸๅ“ใจใ—ใฆๆ‘‚ๅ–ใ•ใ‚Œใ‚‹ใจใ€ๅธๅŽใ€ๅˆ†่งฃใŒ่กŒใ‚ใ‚Œใ€ๅ˜็ณ–้กžใจใชใฃใฆไฝ“ใฎใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใฆไฝฟใ‚ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซๅ˜็ณ–้กžใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใซๅˆๆˆใ•ใ‚Œใ€ไฝ“ๅ†…ใซ่ฒฏ็•™ใ•ใ‚Œใ‚‹ใ€‚็ฉบ่…นๆ™‚ใซใฏใใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ๅˆ†่งฃใ—ใฆใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใ€็ณ–ใฎๆ–ฐ็”Ÿใ‚‚่กŒใฃใฆใ„ใ‚‹ใ€‚็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใ‚Œใ‚‰ใฎ้Ž็จ‹ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใฎไฝŽ่ก€็ณ–ใ‚„้ซ˜ไนณ้…ธ่ก€็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹59ใ€œ73ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ณ–ไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200177NANDO:2200546
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_16_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_074_01.pdf
rdfs:label - "megacalycosis" - @en
rdfs:label - "ๅทจๅคง่…Žๆฏ็—‡" + "59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorders of carbohydrate metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_16_042/https://www.shouman.jp/disease/details/08_05_074/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200160http://nanbyodata.jp/ontology/NANDO_2100164
skos:prefLabel - "ๅทจๅคง่…Žๆฏ็—‡" + "59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200178 +
http://nanbyodata.jp/ontology/NANDO_2200547 (rdf:type owl:Class @@ -103067,67 +157717,88 @@

hasNotificationNumber17hasNotificationNumber130
dcterms:description - "ๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๅฐฟ่ทฏ้€š้Ž้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹่…ŽๆฉŸ่ƒฝ้šœๅฎณใ‚’้–‰ๅกžๆ€ง่…Ž็—‡ใจใ„ใ„๏ผŒ้–‰ๅกžๆ€ง่…Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹ไธŠ้ƒจใƒปไธ‹้ƒจๅฐฟ่ทฏใฎ็•ฐๅธธใ‚’้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃใจๅฎš็พฉใ™ใ‚‹ใ€‚" + "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-iduronidase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200178NANDO:2200547
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_075_01.pdf
rdfs:label - "Obstructive uropathy" + "Mucopolysaccharidosis type I" @en
rdfs:label - "้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ" + "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_043/https://www.shouman.jp/disease/details/08_06_075/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100025http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "Hurler-Scheie็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "MPS I" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003330http://purl.obolibrary.org/obo/MONDO_0001586
skos:prefLabel - "้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ" + "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹" @ja
- - + - - + + - + - + + "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira - - + + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200179 +
http://nanbyodata.jp/ontology/NANDO_2200548 (rdf:type owl:Class @@ -103135,89 +157806,100 @@

hasNotificationNumber18hasNotificationNumber131
dcterms:description - "่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚" + "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹Iduronate-2-sulfatase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200179NANDO:2200548
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_076_01.pdf
rdfs:label - "Vesicoureteral reflux" + "Mucopolysaccharidosis type II" @en
rdfs:label - "่†€่ƒฑๅฐฟ็ฎก้€†ๆต" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1625 + rdfs:label + "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01037http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3504
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_044/https://www.shouman.jp/disease/details/08_06_076/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100025http://nanbyodata.jp/ontology/NANDO_2100165
skos:altLabel - "VUR" + "Hunter syndrome" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006007 + skos:altLabel + "Hunter็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "MPS II" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008653http://purl.obolibrary.org/obo/MONDO_0010674
skos:prefLabel - "่†€่ƒฑๅฐฟ็ฎก้€†ๆต" + "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" @ja
- - + - - + + - + - + + "Mucopolysaccharidosis type III" + @en + "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira + + + + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200180 +
http://nanbyodata.jp/ontology/NANDO_2200549 (rdf:type owl:Class @@ -103225,62 +157907,100 @@

hasNotificationNumber18hasNotificationNumber132
dcterms:description - "่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚" + "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ ใ‚ณๅคš็ณ–็—‡๏ผฉๅž‹ใ‚„โ…กๅž‹ใจๆฏ”ในใฆ้ชจใฎ้šœๅฎณใŒๅฐ‘ใชใ็Ÿฅ็š„้šœๅฎณใฏ้‡ใ„ใ€‚่ปฝๅบฆใฎ่‚่‡“่…ซๅคงใŒใ‚ใ‚Šใ€่ง’่†œๆททๆฟใฏใชใ„ใ€‚ๅฐฟไธญใซใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธใŒๅ‡บใฆใ„ใ‚‹ใŒใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚" @ja
dcterms:identifier2200180NANDO:2200549
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_077_01.pdf
rdfs:label - "43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข" - @ja
rdfs:label - "Other urinary tract malformations" - @en
+ rdfs:label + "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_044/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00130
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100025http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "MPS III" + @en
+ skos:altLabel + "Sanfilippo syndrome" + @en
+ skos:altLabel + "Sanfilippo็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018937
skos:prefLabel - "43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข" + "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - - - - -
http://nanbyodata.jp/ontology/nando#2200181 +
http://nanbyodata.jp/ontology/NANDO_2200550 (rdf:type owl:Class @@ -103288,118 +158008,100 @@

hasNotificationNumber18hasNotificationNumber133
+ dcterms:description + "Morquio ็—‡ๅ€™็พค๏ผˆใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹๏ผ‰ใฏใ€็Ÿญ่ƒดๆ€งไฝŽ่บซ้•ทใ€X่„šใ€ๆ‰‹้–ข็ฏ€ๅผ›็ทฉใ€่ง’่†œๆททๆฟใ€ๅผ่†œ็—‡ใ€ๅฐฟไธญใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผˆKS๏ผ‰ใƒปใ‚ณใƒณใƒ‰ใƒญใ‚คใƒใƒณ็กซ้…ธ๏ผˆCS๏ผ‰ใฎๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏN-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณ-6-็กซ้…ธใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆGALNS๏ผ‰ใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Aๅž‹ใจใ€ฮฒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Bๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€Aๅž‹ใŒๅคงๅŠใ‚’ๅ ใ‚ใ‚‹ใ€‚GALNSใฎๆฌ ๆใซใ‚ˆใ‚ŠKSใจCSใฎๅˆ†่งฃใŒ้˜ปๅฎณใ•ใ‚Œใ€้ชจใ‚„่ง’่†œใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ่“„็ฉใ™ใ‚‹" + @ja
dcterms:identifier2200181NANDO:2200550
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_078_01.pdf
rdfs:label - "duplication of the renal pelvis and ureter" + "Mucopolysaccharidosis type IV" @en
rdfs:label - "้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก" + "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_044/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00123
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_078/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200180http://nanbyodata.jp/ontology/NANDO_2100165
skos:altLabel - "Duplex Collecting System" + "MPS IV" @en
- skos:prefLabel - "้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก" - @ja
- - - - - - - - - - - - - - - - - + - + - - - - - - + +
http://nanbyodata.jp/ontology/nando#2200182 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber18
- dcterms:identifier2200182
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf
- rdfs:label + skos:altLabel - "ectopic ureteral orifice" + "Morquio disease" @en
- rdfs:label + skos:altLabel - "็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก" + "Morquio็—‡ๅ€™็พค" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_044/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200180 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018938
skos:prefLabel - "็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก" + "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - + - - -
http://nanbyodata.jp/ontology/nando#2200183 +
http://nanbyodata.jp/ontology/NANDO_2200551 (rdf:type owl:Class @@ -103407,111 +158109,121 @@

hasNotificationNumber18hasNotificationNumber134
+ dcterms:description + "N-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณโ€•4๏ผใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผB๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซ่ตทๅ› ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฏใ€ๆˆ้•ท้šœๅฎณใ€้ชจ้–ข็ฏ€็—‡็Šถใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€่ง’่†œๆททๆฟใชใฉใ‚’ๅ‘ˆใ—๏ผŒใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹๏ผˆใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ใจ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€็Ÿฅ็š„้šœๅฎณใฏไผดใ‚ใชใ„ใ€‚่บซไฝ“ๆ‰€่ฆ‹ใ€็™บ็—‡ๆ™‚ๆœŸใ€็—‡็Šถใฎ้€ฒ่กŒ้€Ÿๅบฆใซใ‚ˆใ‚Š้‡็—‡ๅž‹ใƒปไธญ้–“ๅž‹ใƒป่ปฝ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€็—…ๅž‹ใฎๅขƒ็•Œใฏไธ้ฎฎๆ˜Žใงๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’็คบใ™ใ€‚" + @ja
dcterms:identifier2200183NANDO:2200551
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_079_01.pdf
rdfs:label - "ureteroceles" + "Mucopolysaccharidosis type VI" @en
rdfs:label - "ๅฐฟ็ฎก็˜ค" + "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_044/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2647
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200180http://nanbyodata.jp/ontology/NANDO_2100165
- skos:prefLabel + skos:altLabel - "ๅฐฟ็ฎก็˜ค" - @ja
- - - - - - + "MPS VI" + @en - - + + - - + + - + + "Maroteaux-Lamy็—‡ๅ€™็พค" + @ja - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200184 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber18
- dcterms:identifier2200184 + skos:altLabel + "Maroteaux-Lamy disease" + @en
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf + skos:altLabel + "Maroteaux-Lamy syndrome" + @en
- rdfs:label + skos:altLabel - "Megaureter" - @en
- rdfs:label + skos:altLabel - "ๅทจๅคงๅฐฟ็ฎก็—‡" + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_044/ + skos:altLabel + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค" + @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200180 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009661
skos:prefLabel - "ๅทจๅคงๅฐฟ็ฎก็—‡" + "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200185 +
http://nanbyodata.jp/ontology/NANDO_2200552 (rdf:type owl:Class @@ -103519,65 +158231,100 @@

hasNotificationNumber19hasNotificationNumber135
+ dcterms:description + "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ใฏใ€ไฝŽ่บซ้•ทใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่ƒŽๅ…ๆฐด่…ซใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’็คบใ™ใ€‚้ ปๅบฆใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅญ˜ๅœจใ™ใ‚‹ฮฒ-ใ‚ฐใƒซใ‚ฏใƒญใƒ‹ใƒ€ใƒผใ‚ผ้…ต็ด ๆดปๆ€งใŒๆฌ ๆใ™ใ‚‹ใŸใ‚ใ€ใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธใ‚’้™คใใ™ในใฆใฎใƒ ใ‚ณๅคš็ณ–ใฎๅˆ†่งฃใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200185NANDO:2200552
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_17_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_080_01.pdf
rdfs:label - "Prune belly syndrome" + "Mucopolysaccharidosis type VII" @en
rdfs:label - "Prune belly็—‡ๅ€™็พค" + "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2648
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_17_045/https://www.shouman.jp/disease/details/08_06_080/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200180http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "MPS VII" + @en
+ skos:altLabel + "Sly disease" + @en
+ skos:altLabel + "Sly็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007032http://purl.obolibrary.org/obo/MONDO_0009662
skos:prefLabel - "Prune belly็—‡ๅ€™็พค" + "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200186 +
http://nanbyodata.jp/ontology/NANDO_2200553 (rdf:type owl:Class @@ -103585,62 +158332,84 @@

hasNotificationNumber2hasNotificationNumber126
dcterms:description - "่…Ž่‡“ใŒๆญฃๅธธๆ™‚ใฎๅŠๅˆ†่ฟ‘ใใซ็ธฎๅฐใ—๏ผŒๆฉŸ่ƒฝไธๅ…จใซ้™ฅใฃใŸ็Šถๆ…‹ใ‚’่จ€ใ†ใ€‚ๅคšใใฎ่…Ž็–พๆ‚ฃใฎ็ต‚ๅฑ€ๅƒใงใ‚ใ‚‹ใ€‚" + "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-ใƒ•ใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆEC3.2.1.51๏ผ‰ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒ•ใ‚ณใƒผใ‚นใ‚’ๅซใ‚€ๅ„็จฎใฎ็ณ–่›‹็™ฝ่ณชใ€็ณ–่„‚่ณชใŒๅ…จ่บซใฎ็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฎไธญใงใ‚‚็‰นใซ้ ปๅบฆใŒไฝŽใใ€ๆ‚ฃ่€…ใฏๅ…จไธ–็•Œใซๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใŒ็™พๆ•ฐๅไพ‹ใฎๅ ฑๅ‘Šใซใ™ใŽใชใ„ใ€‚่‡จๅบŠ็š„ใซ2็จฎ้กžใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไนณๅนผๅ…ๆœŸใซ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใง็™บ็—‡ใ—้€ฒ่กŒใŒๆ—ฉใใ€ๆฑ—ใฎNaClๆฟƒๅบฆใฎไธŠๆ˜‡ใ‚’็‰นๅพดใจใ™ใ‚‹้‡็—‡ๅž‹ใงใ‚ใ‚‹Iๅž‹ใจใ€1โˆ’2ๆญณใง็™บ็—‡ใ—้€ฒ่กŒใŒ้…ใ่ขซ่ง’่ก€็ฎก่…ซ๏ผˆangiokeratoma corporis diffusum๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹่ปฝ็—‡ใฎIIๅž‹ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200186NANDO:2200553
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_18_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_081_01.pdf
rdfs:label - "Atrophic kidney" + "Fucosidosis" @en
rdfs:label - "่Ž็ธฎ่…Ž" + "ใตใ“ใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_18_046/http://nanbyodata.jp/ontology/NANDO_1200130
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2242
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100026http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009254
skos:prefLabel - "่Ž็ธฎ่…Ž" + "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200187 +
http://nanbyodata.jp/ontology/NANDO_2200554 (rdf:type owl:Class @@ -103648,74 +158417,69 @@

hasNotificationNumber28hasNotificationNumber129
dcterms:description - "Fanconi็—‡ๅ€™็พคใฏ๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใฎๅ…จ่ˆฌๆ€งๆบถ่ณช่ผธ้€ๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒๆœฌๆฅ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงๅ†ๅธๅŽใ•ใ‚Œใ‚‹็‰ฉ่ณชใŒๅฐฟไธญใธใฎ้Žๅบฆใฎๅ–ชๅคฑใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธ๏ผŒใƒ–ใƒ‰ใ‚ฆ็ณ–๏ผŒ้‡็‚ญ้…ธ็„กๆฉŸใƒชใƒณใชใฉใฎๆบถ่ณชๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใใฎ็ตๆžœใจใ—ใฆไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผŒ้›ป่งฃ่ณช็•ฐๅธธ๏ผŒ่„ฑๆฐด๏ผŒ็™บ้”้šœๅฎณ๏ผŒใใ‚‹็—…ใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "็ณ–่›‹็™ฝ่ณชใฎ็ณ–้Ž–ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒชใ‚ฝใ‚ฝโˆ’ใƒ ้…ต็ด ใฎไธญใง๏ผŒใ‚ขใƒซใƒ•ใ‚ก็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ก-mannosidase(LAMAN, EC3.2.1.24)๏ผŒใƒ™ใƒผใ‚ฟ็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ข-mannosidase(MANBA, EC3.2.1.25)ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใ‚Œใžใ‚Œใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹็–พๆ‚ฃใ‚’๏ก-mannosidosis(OMIM #248500), ๏ข-mannosidosis(OMIM #248510)ใจๅ‘ผใ‚“ใงใ„ใ‚‹๏ผŽ๏ก-mannosidase้บไผๅญ(MAN2B1)ใฏ19p13.2-q12ใซ๏ผŒ๏ข-mannosidosis้บไผๅญ(MANBA)ใฏ4q21-25ใซใƒžใƒƒใƒ—ใ•ใ‚Œ๏ผŒใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๅคงๅค‰็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅ›ฝๅ†…ๅ ฑๅ‘Šใฏๆฎ†ใฉใชใ„ใ€‚" @ja
dcterms:identifier2200187NANDO:2200554
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_19_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_082_01.pdf
rdfs:label - "Fanconi syndrome" + "Mannosidosis" @en
rdfs:label - "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค" + "ใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_19_047/https://www.shouman.jp/disease/details/08_06_082/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100027
- skos:altLabel - "Fanconi็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001083http://nanbyodata.jp/ontology/NANDO_2100165
skos:prefLabel - "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค" + "ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200188 +
http://nanbyodata.jp/ontology/NANDO_2200555 (rdf:type owl:Class @@ -103723,91 +158487,84 @@

hasNotificationNumber48hasNotificationNumber112
dcterms:description - "ๆœฌ็—‡ใฏ็œผ็—‡็Šถ๏ผŒไธญๆžข็ฅž็ตŒ็—‡็Šถ๏ผŒ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธปๅพดใจใ—๏ผŒ1952ๅนดใซLoweใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚่ฟ‘ๅนดใฏ๏ผŒoculocerebrorenal syndrome of Lowe (OCRL)ใ€€(MIM309000)ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็”ทๅ…10ไธ‡ไบบใซๆ•ฐไบบใฎ็™บ็—‡ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๆญฃ็ขบใช็™บ็—‡้ ปๅบฆใ‚„ๆ‚ฃ่€…ๆ•ฐใฏไธๆ˜Žใงใ‚ใ‚‹(2)ใ€‚1982ๅนดใฎๆˆ‘ใŒๅ›ฝใฎๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(RTA)ใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ๏ผŒRTAใฎ็ด„1/3ใŒๆœฌ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ(3)ใ€‚ใพใŸ๏ผŒใพใ‚Œใงใฏใ‚ใ‚‹ใŒ๏ผŒXๆŸ“่‰ฒไฝ“ใจๅธธๆŸ“่‰ฒไฝ“ใฎ้–“ใซใŠใ‘ใ‚‹ๅ‡่กก่ปขๅบงใซใ‚ˆใ‚‹่ปฝ็—‡ๅฅณๅ…ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŸใ‚๏ผŒๅฅณๅ…ใงใ‚ใฃใฆใ‚‚ๆœฌ็—‡ใ‚’้™คๅค–ใ™ในใใงใฏใชใ„ใ€‚" + "๏ผ‘๏ผŽ ๆฆ‚่ฆใƒปๅฎš็พฉใ‚ขใƒซใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ€ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใฎN-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณใŠใ‚ˆใณใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้–“ใฎ็ตๅˆใ‚’ๅˆ‡ๆ–ญใ™ใ‚‹ๅƒใใ‚’ๆŒใคใ€‚ๆœฌ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅฝ“่ฉฒ้ ˜ๅŸŸใŒๅˆ†่งฃใ•ใ‚Œใชใ„ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใŒใƒชใ‚ฝใ‚ฝใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใชใ‚Šใ€ๆ‚ฃ่€…ใฏใ€ๆ˜“ๆ„ŸๆŸ“ใ‚„็ฒพ็ฅž็™บ้”้…ๅปถใ€็ฒ—ใช้ก”่ฒŒใŠใ‚ˆใณ้ชจ็•ฐๅธธใชใฉใฎ็—‡็Šถใ‚’็คบใ™ใ€‚" @ja
dcterms:identifier2200188NANDO:2200555
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_02_20_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_083_01.pdf
rdfs:label - "Lowe syndrome" + "Aspartylglucosaminuria" @en
rdfs:label - "ใƒญใ‚ฆ็—‡ๅ€™็พค" + "ใ‚ใ™ใฑใ‚‹ใกใ‚‹ใใ‚‹ใ“ใ•ใฟใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3469http://nanbyodata.jp/ontology/NANDO_1200133
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00692http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1801
rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_20_048/https://www.shouman.jp/disease/details/08_06_083/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100028
- skos:altLabel - "Lowe็—‡ๅ€™็พค" - @ja
- skos:altLabel - "oculocerebrorenal syndrome of Lowe" - @enhttp://nanbyodata.jp/ontology/NANDO_2100165
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010645http://purl.obolibrary.org/obo/MONDO_0008830
skos:prefLabel - "ใƒญใ‚ฆ็—‡ๅ€™็พค" + "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200189 +
http://nanbyodata.jp/ontology/NANDO_2200556 (rdf:type owl:Class @@ -103815,55 +158572,79 @@

hasNotificationNumber6hasNotificationNumber118
+ dcterms:description + "ใƒชใ‚ฝใ‚ฝใƒผใƒ ๆ€งใƒŽใ‚คใƒฉใƒŸใƒ‹ใƒ€ใƒผใ‚ผ๏ผˆใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ2ใคใฎใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅณใกใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ๆ–‘ใจใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ‚’ไผดใ†็ฌฌ1ๅž‹ใจใ€ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฎไป–ใซใ€้ก”่ฒŒใ‚„้ชจ็•ฐๅธธใฎๅญ˜ๅœจใ‚’็‰นๅพดใจใ™ใ‚‹็ฌฌ2ๅž‹ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200189NANDO:2200556
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_084_01.pdf
rdfs:label - "airway obstruction and stenosis" + "Sialidosis" @en
rdfs:label - "ๆฐ—้“็‹ญ็ช„" + "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/http://nanbyodata.jp/ontology/NANDO_1200116
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_084/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100030http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017734
skos:prefLabel - "ๆฐ—้“็‹ญ็ช„" + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200190 +
http://nanbyodata.jp/ontology/NANDO_2200557 (rdf:type owl:Class @@ -103871,62 +158652,84 @@

hasNotificationNumber6hasNotificationNumber114
dcterms:description - "ๅ’ฝ้ ญ็‹ญ็ช„ใฏใ€ๅ’ฝ้ ญ่…”ใŒๅŒๅนด้ฝขใฎๆญฃๅธธๅ…ใซๆฏ”ในใฆๆ˜Žใ‚‰ใ‹ใซ็‹ญใใ€ใ‹ใคใใ‚Œใซ่ตทๅ› ใ™ใ‚‹็—‡็Šถใ‚’ๆœ‰ใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚็‹ญ็ช„ใซใฏๅ›บๅฎšๆ€งใฎใ‚‚ใฎใจๅค‰ๅ‹•ๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" + "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งไฟ่ญท่›‹็™ฝ่ณช/ใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆPPCA๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚PPCAใฏใ€ใใ‚Œ่‡ชไฝ“ใŒใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆ้…ธๆ€งใ‚ซใƒซใƒœใ‚ญใ‚ทใƒšใƒ—ใƒใƒ€ใƒผใ‚ผใ€ไธญๆ€งใ‚ปใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผใŠใ‚ˆใณใƒ‡ใ‚ขใƒŸใƒ€ใƒผใ‚ผ๏ผ‰ใจใ—ใฆใฎ้…ต็ด ๆดปๆ€งใ‚’ๆŒใคใ ใ‘ใงใชใใ€็ดฐ่ƒžๅ†…ใซใŠใ„ใฆใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใ‚„ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใจๅ…ฑใซ้ซ˜ๅˆ†ๅญ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใฆใ€ๅ‰่€…ใ‚’ๆดปๆ€งๅŒ–ใ—ใ€ๅพŒ่€…ใ‚’ๅฎ‰ๅฎšๅŒ–ใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆŒใคๅคšๆฉŸ่ƒฝๆ€ง็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ€‚ใ“ใฎPPCAใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Šใ€ไธ€ๆฌก็š„ใชใ‚ซใƒ†ใƒ—ใ‚ทใƒณAๆดปๆ€งใฎไฝŽไธ‹ใจไบŒๆฌก็š„ใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใŠใ‚ˆใณฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใŒ่ตทใ“ใ‚Šใ€ใใฎ็ตๆžœใ€ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’ๆฅใŸใ™็–พๆ‚ฃใŒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200190NANDO:2200557
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_085_01.pdf
rdfs:label - "laryngeal stenosis" + "Galactosialidosis" @en
rdfs:label - "ๅ–‰้ ญ็‹ญ็ช„" + "ใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/http://nanbyodata.jp/ontology/NANDO_1200119
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2723
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200189http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009737
skos:prefLabel - "ๅ–‰้ ญ็‹ญ็ช„" + "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200191 +
http://nanbyodata.jp/ontology/NANDO_2200558 (rdf:type owl:Class @@ -103934,62 +158737,86 @@

hasNotificationNumber6hasNotificationNumber119
dcterms:description - "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚" + "ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€็ณ–่„‚่ณชใฎๆœซ็ซฏฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น็ตๅˆใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ใฏใ˜ใ‚ใจใ—ใฆๅ…จ่บซ่‡“ๅ™จใซGM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใ€ใ‚ชใƒชใ‚ด็ณ–ใ€ใƒ ใ‚ณๅคš็ณ–๏ผˆใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผ‰ใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไธปใจใ™ใ‚‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…จ่บซ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใƒขใƒซใ‚ญใ‚ชB็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡๏ฝž20ไธ‡ไบบใจใ•ใ‚Œใ€็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ3๏ฝž6ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€ๅ…จ่บซๆ€งใ‘ใ„ใ‚Œใ‚“ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€่‚่„พ่…ซใ€ๅ…จ่บซใฎ้ชจ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ1ๆญณๅ‰ๅพŒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ‚„ใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง็Ÿฅ่ƒฝ้šœๅฎณใŒๅฐ‘ใชใ„ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200191NANDO:2200558
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_086_01.pdf
rdfs:label - "supraglottic stenosis" + "GM1 Gangliosidosis" @en
rdfs:label - "ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡" + "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:label + "ใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/http://nanbyodata.jp/ontology/NANDO_1200066
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200189http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "Beta-galactosidase-1 deficiency" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018149
skos:prefLabel - "ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡" + "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200192 +
http://nanbyodata.jp/ontology/NANDO_2200559 (rdf:type owl:Class @@ -103997,62 +158824,79 @@

hasNotificationNumber6hasNotificationNumber120
dcterms:description - "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚" + "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใจB ไธกๆ–นใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใ€GM2ๆดปๆ€งๅŒ–่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ไธญๅฟƒใซGM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใŒ1/30ไธ‡ไบบใจใ•ใ‚Œใ€GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใฏใใ‚ใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ6๏ฝž7ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ‚’่ชใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚่‹ฅๅนดๅž‹ใฏ2๏ฝž10ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง20๏ฝž30ๆญณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200192NANDO:2200559
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_087_01.pdf
rdfs:label - "glottic stenosis" + "GM2 gangliosidosis" @en
rdfs:label - "ๅฃฐ้–€็‹ญ็ช„็—‡" + "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:label + "ใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/http://nanbyodata.jp/ontology/NANDO_1200070
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_087/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200189http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017720
skos:prefLabel - "ๅฃฐ้–€็‹ญ็ช„็—‡" + "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + + + + + - - + +
http://nanbyodata.jp/ontology/nando#2200193 +
http://nanbyodata.jp/ontology/NANDO_2200560 (rdf:type owl:Class @@ -104060,62 +158904,86 @@

hasNotificationNumber6hasNotificationNumber113
dcterms:description - "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚" + "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณ็™ฝ่ณชใ€ๆœซๆขข็ฅž็ตŒใ€่…Ž่‡“ใชใฉใซใ‚นใƒซใƒ•ใ‚กใƒใƒ‰ใŒ่“„็ฉใ—ใ€ไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚็™บ็—‡้ ปๅบฆใฏ4ไธ‡๏ฝž16ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ2ๆญณใพใงใซ็™บ็—‡ใ—ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๆทฑ้ƒจ่…ฑๅๅฐ„ๆถˆๅคฑใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ4๏ฝž6ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็—™ๆ€ง้บป็—บใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏ10ไปฃๅพŒๅŠไปฅ้™ใซๆƒ…็ท’้šœๅฎณใ€่จ€่ชž้šœๅฎณใ€็—ดๅ‘†ใ€็ฒพ็ฅž็—‡็Šถใชใฉใง็™บ็—‡ใ—ใ€5๏ฝž10ๅนดใฎ็ตŒ้Žใง้€ฒ่กŒใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200193NANDO:2200560
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_088_01.pdf
rdfs:label - "subglottic stenosis" + "Metachromatic leukodystrophy" @en
rdfs:label - "ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + "ใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/http://nanbyodata.jp/ontology/NANDO_1200078
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_088/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "MLD" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200189 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018868
skos:prefLabel - "ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡" + "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200194 +
http://nanbyodata.jp/ontology/NANDO_2200561 (rdf:type owl:Class @@ -104123,67 +158991,88 @@

hasNotificationNumber6hasNotificationNumber123
dcterms:description - "ๅฐๅ…ใฎๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅฃฐ้–€๏ผ‰ใจ็‹ญ็พฉใฎๆฐ—้“๏ผˆๅฃฐ้–€ไธ‹่…”ใ€ๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ—ๅค–็ง‘็š„ๆฒป็™‚ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏไธปใซ็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๆฐ—็ฎก็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใงใ‚ใ‚Šใ€ๅคšใใŒ็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใปใจใ‚“ใฉใŒๅ…ˆๅคฉๆ€งใฎ็‹ญ็ช„ใงใ‚ใ‚Šใ€ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎๅพŒๅคฉๆ€งใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ใพใ‚Œใงใ‚ใ‚‹ใ€‚" + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ๏ผˆNiemann-Pick๏ผ‰็—…ใฏใ€้…ธๆ€งใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒŠใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹Aๅž‹ใ€Bๅž‹ใจNPC1ใพใŸใฏNPC2่›‹็™ฝใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹Cๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‚่‡“ใ€่„พ่‡“ใ€้ชจ้ซ„ใฎ็ถฒๅ†…็ณป็ดฐ่ƒžใจ็ฅž็ตŒ็ดฐ่ƒžใซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒณใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ€็ณ–่„‚่ณชใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ12ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚Aๅž‹ใฏไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใ€็ฒพ็ฅž้‹ๅ‹•้šœๅฎณใ€ๅž‚็›ดๆ–นๅ‘ใฎ็œผ็ƒ้‹ๅ‹•้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚Bๅž‹ใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใŒไธปไฝ“ใงใ‚ใ‚Šใ€็ฅž็ตŒ็—‡็Šถใฏไผดใ‚ใชใ„ใ€‚Cๅž‹ใฎ็™บ็—‡ๅนด้ฝขใฏๆง˜ใ€…ใงใ€่‚่„พ่…ซใ€ใ‚ซใ‚ฟใƒฌใƒ—ใ‚ญใ‚ทใƒผใ€ๅž‚็›ด็œผ็ƒ้‹ๅ‹•้šœๅฎณใ€ๅคฑ่ชฟใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€็—ดๅ‘†ใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบ็™บ็—‡ใงใฏ็—ดๅ‘†ใ€ๆŠ‘ใ†ใค็—‡็Šถใชใฉใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200194NANDO:2200561
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_089_01.pdf
rdfs:label - "tracheal stenosis" + "Niemann-Pick disease" @en
rdfs:label - "ๆฐ—็ฎก็‹ญ็ช„" + "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/https://www.shouman.jp/disease/details/08_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200189http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "NPD" + @en
+ skos:altLabel + "Niemann-Pick็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002568http://purl.obolibrary.org/obo/MONDO_0001982
skos:prefLabel - "ๆฐ—็ฎก็‹ญ็ช„" + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200195 +
http://nanbyodata.jp/ontology/NANDO_2200562 (rdf:type owl:Class @@ -104191,67 +159080,86 @@

hasNotificationNumber6hasNotificationNumber116
dcterms:description - "ๆฐ—็ฎก่ปŸๅŒ–็—‡ใฏๆฐ—็ฎกใ‚„ๆฐ—็ฎกๆ”ฏใฎๅ†…่…”ใŒไฟใŸใ‚Œใšใ€่™š่„ฑ๏ผˆๆ‰ๅนณๅŒ–๏ผ‰ใ—ใ€้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" + "ใ‚ดใƒผใ‚ทใ‚ง็—…ใฏใ€ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆๅˆฅๅฮฒโˆ’ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใŒไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใ—ใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹็ณ–่„‚่ณชใฎใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใŒ็ต„็น”ใซ่“„็ฉใ™ใ‚‹ใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นใฎใฒใจใคใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏใ€ไฝ“ไธญใฎใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ่“„็ฉใ—ใ€่‚่„พ่…ซใ€้ชจ็—›ใ‚„็—…็š„้ชจๆŠ˜ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚" @ja
dcterms:identifier2200195NANDO:2200562
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_090_01.pdf
rdfs:label - "tracheomalacia" + "Gaucher disease" @en
rdfs:label - "ๆฐ—็ฎก่ปŸๅŒ–็—‡" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/http://nanbyodata.jp/ontology/NANDO_1200056
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_090/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200189http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "Gaucher็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019804http://purl.obolibrary.org/obo/MONDO_0018150
skos:prefLabel - "ๆฐ—็ฎก่ปŸๅŒ–็—‡" + "ใ‚ดใƒผใ‚ทใ‚ง็—…" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200196 +
http://nanbyodata.jp/ontology/NANDO_2200563 (rdf:type owl:Class @@ -104259,62 +159167,91 @@

hasNotificationNumber6hasNotificationNumber125
dcterms:description - "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ๅŠ ๆฐดๅˆ†่งฃ้…ต็ด ใฎไธ€ใคใงใ‚ใ‚‹ฮฑ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒญใƒœใƒˆใƒชใ‚ขใ‚ชใ‚ทใƒซใ‚ปใƒฉใƒŸใƒ‰ใŒใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ€ๅนณๆป‘็ญ‹็ดฐ่ƒžใ€ๆฑ—่…บใ€่…Ž่‡“ใ€ๅฟƒ็ญ‹ใ€่‡ชๅพ‹็ฅž็ตŒ็ฏ€ใ€่ง’่†œใซ่“„็ฉใ—ใ€่…Ž้šœๅฎณใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€็šฎ่†š็—…ๅค‰ใ€ๅ››่‚ขๆœซ็ซฏ็—›ใ€่ง’่†œๆททๆฟใชใฉใ‚’็”Ÿใ˜ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ใƒ˜ใƒ†ใƒญ็ตๅˆไฝ“ใฎๅฅณๆ€งใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200196NANDO:2200563
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_091_01.pdf
rdfs:label - "bronchial stenosis and bronchomalacia" + "Fabry disease" @en
rdfs:label - "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡" + "ใตใใถใ‚Šใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_01_001/http://nanbyodata.jp/ontology/NANDO_1200157
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_091/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200189http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "Fabry็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010526
skos:prefLabel - "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡" + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200197 +
http://nanbyodata.jp/ontology/NANDO_2200564 (rdf:type owl:Class @@ -104322,62 +159259,91 @@

hasNotificationNumber5hasNotificationNumber115
dcterms:description - "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใฏใ€็™บไฝœๆ€งใซ่ตทใ“ใ‚‹ๆฐ—้“็‹ญ็ช„ใซใ‚ˆใฃใฆๅ–˜้ณดใ‚„ๅ‘ผๆฐ—ๅปถ้•ทใ€ๅ‘ผๅธๅ›ฐ้›ฃใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใฏ่‡ช็„ถใชใ„ใ—ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ€ๆถˆๅคฑใ™ใ‚‹ใŒใ€ใ”ใ็จ€ใซใฏ่‡ดๆญป็š„ใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆฐ—้“็‹ญ็ช„ใฏใ€ๆฐ—้“ๅนณๆป‘็ญ‹ๅŽ็ธฎใ€ๆฐ—้“็ฒ˜่†œๆตฎ่…ซใ€ๆฐ—้“ๅˆ†ๆณŒไบข้€ฒใ‚’ไธปใชๆˆๅ› ใจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏใ€ๆ…ขๆ€งใฎๆฐ—้“็‚Ž็—‡ใจๆฐ—้“้Žๆ•ๆ€งใงใ‚ใ‚‹ใŒใ€ๆฐ—้“็‚Ž็—‡ใซใฏๅฅฝ้…ธ็ƒใ€ๅฅฝไธญ็ƒใ€ใƒชใƒณใƒ‘็ƒใ€ใƒžใ‚นใƒˆ็ดฐ่ƒžใชใฉใฎ็‚Ž็—‡็ดฐ่ƒžใ€ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใ€็ทš็ถญ่Šฝ็ดฐ่ƒžใ€ๆฐ—้“ๅนณๆป‘็ญ‹ใชใฉใฎๆฐ—้“ๆง‹ๆˆ็ดฐ่ƒžใ€ใŠใ‚ˆใณ็จฎใ€…ใฎๆถฒๆ€งๅ› ๅญใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚‹ๆฐ—้“็‚Ž็—‡ใฏใ€ๆฐ—้“ๅ‚ทๅฎณใจใใ‚Œใซๅผ•ใ็ถšใๆฐ—้“ๆง‹้€ ใฎๅค‰ๅŒ–๏ผˆใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ๏ผ‰ใ‚’ๆƒน่ตทใ—ใฆ้žๅฏ้€†ๆ€งใฎๆฐ—ๆตๅˆถ้™ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€ๆฐ—้“้Žๆ•ๆ€งใ‚’ไบข้€ฒใ•ใ›ใ‚‹ใ€‚ไนณๅ…ๅ–˜ๆฏ๏ผˆ2ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹ๅ–˜ๆฏใจๅฎš็พฉ๏ผ‰ใฎ็—…ๆ…‹ใซใŠใ‘ใ‚‹็‰น็•ฐๆ€งใจใ—ใฆใฏใ€ๅ‘ผๅธๅ™จ็ณปใซใŠใ‘ใ‚‹่งฃๅ‰–ใƒป็”Ÿ็†ๅญฆ็š„็‰นๅพดใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไนณๅนผๅ…ใฏๅนด้•ทๅ…ใซๆฏ”ใ—ๆฐ—้“ๅ†…ๅพ„ใŒ็‹ญใใ€่‚บๅผพๆ€งๅŽ็ธฎๅŠ›ใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆฐ—็ฎกๆ”ฏๅนณๆป‘็ญ‹ใŒๅฐ‘ใชใใ€็ฒ˜ๆถฒๅˆ†ๆณŒ่…บใ‚„ๆฏ็ดฐ่ƒžใŒ้Žๅฝขๆˆใ‚’็คบใ—ใ€ๅดๅ‰ฏๆ›ๆฐ—ใŒๅฐ‘ใชใใ€ๆจช้š”่†œใŒๆฐดๅนณใซไป˜็€ใ—ใฆๅ‘ผๅธ้‹ๅ‹•ใŒๅฐใ•ใ„ใ“ใจใชใฉใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใŒ็”Ÿใ˜ใ‚„ใ™ใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชใ“ใจใ‹ใ‚‰ใ€2ๆญณๆœชๆบ€ใงใฏๅนด้•ทๅ…ใจๆฏ”่ผƒใ—ใฆๆฐ—้“็‹ญ็ช„ใŒๅผทใ็พใ‚Œใ‚„ใ™ใใ€็—‡็Šถใฎ้€ฒ่กŒใŒ้€Ÿใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" + "ใ‚ฏใƒฉใƒƒใƒ™็—…๏ผˆKrabbe disease๏ผ‰ใฏใ€ใ‚ฐใƒญใƒœใ‚คใƒ‰็ดฐ่ƒž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆgloboid-cell leukodystrophy; GLD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใจๆœซๆขขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใฎ้šœๅฎณใ‹ใ‚‰่„ฑ้š๏ผˆ้ซ„้ž˜ใ€ใƒŸใ‚จใƒชใƒณใฎ็ ดๅฃŠ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใจๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใพใŸใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎใŠใ‚‚ใชๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏ่“„็ฉใ—ใชใ„ใŒใ€ๅพฎ้‡ใชๅŸบ่ณชใฎใ‚ตใ‚คใ‚ณใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็ดฐ่ƒž้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200197NANDO:2200564
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_092_01.pdf
rdfs:label - "bronchial asthma" + "Krabbe disease" @en
rdfs:label - "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" + "ใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_02_002/http://nanbyodata.jp/ontology/NANDO_1200074
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2490
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_092/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100031http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "Krabbe็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009499
skos:prefLabel - "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ" + "ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200198 +
http://nanbyodata.jp/ontology/NANDO_2200565 (rdf:type owl:Class @@ -104385,84 +159351,105 @@

hasNotificationNumber8hasNotificationNumber124
dcterms:description - "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital Central Hypoventilation Syndrome: CCHS๏ผ‰ใฏใ€ๅ‘ผๅธไธญๆžขใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…ธๅž‹ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ—ไธปใซ็ก็œ ๆ™‚ใซใ€้‡็—‡ไพ‹ใงใฏ่ฆš้†’ๆ™‚ใซใ‚‚ไฝŽๆ›ๆฐ—ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅปถ้ซ„ใซใ‚ใ‚‹ๅ‘ผๅธไธญๆžขใฎๅŒ–ๅญฆๆ€ง่ชฟ็ฏ€ใฎ็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใซๅฏพใ—ใฆๆ›ๆฐ—ๅฟœ็ญ”ใŒ็”Ÿใ˜ใชใ„ใŸใ‚ไฝŽๆ›ๆฐ—ใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‘ผๅธไธญๆžขใฎ้šœๅฎณใซๅฏพใ™ใ‚‹ๆœ‰ๅŠนใชๆฒป็™‚ใฏใชใ„ใŸใ‚ใ€ไบบๅทฅๅ‘ผๅธ็ฎก็†ใŒๅฟ…้ ˆใงใ‚ใ‚Šใ€ใ„ใ‹ใซไฝŽๆ›ๆฐ—ใซใ‚ˆใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚’้˜ฒใใ‹ใŒ็ฎก็†ใฎไธŠใง้‡่ฆใงใ‚ใ‚‹ใ€‚CCHSใฏ1970ๅนดใซๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๆฏ”่ผƒ็š„ๆ–ฐใ—ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใŸใ‚ใซ็–พๆ‚ฃใฎๅ…จไฝ“ๅƒใซใคใ„ใฆใฏๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„็‚นใ‚‚ๅคšใ„ใ€‚2003ๅนดใซใฏCCHSใฎ็—…ๅ› ้บไผๅญใจใ—ใฆใ€่‡ชๅพ‹็ฅž็ตŒใฎๅˆ†ๅŒ–ใƒป่ช˜ๅฐŽใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹PHOX2B้บไผๅญใŒ็‰นๅฎšใ•ใ‚ŒใŸใ€‚ใ“ใฎ็™บ่ฆ‹ไปฅ้™ใ€CCHSใฎ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใจใ„ใ†ๅด้ขใซใ‚‚ๆณจ็›ฎใŒ้›†ใพใฃใฆใ„ใ‚‹ใ€‚ใพใŸ่ฟ‘ๅนดใงใฏใ€PHOX2Bใฎ้บไผๅญๅค‰็•ฐๅž‹ใจCCHSใฎ่‡จๅบŠ็—‡็Šถใซใฏ้–ข้€ฃใŒใ‚ใ‚‹ใ“ใจใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹late onsetๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใชใฉใ€็พๅœจใ‚‚ๅคšใใฎ็ ”็ฉถใŒ้€ฒ่กŒใ—ใฆใŠใ‚Š็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚" + "ใƒ•ใ‚กใƒผใƒใƒผ็—…ใฏใ€้…ธๆ€งใ‚ปใƒฉใƒŸใƒ€ใƒผใ‚ผ๏ผˆN-ใ‚ขใ‚ทใƒซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใ‚ทใƒณใ‚ขใƒŸใƒ‰ใƒ’ใƒ‰ใƒญใƒฉใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅŸบ่ณชใงใ‚ใ‚‹ใ‚ปใƒฉใƒŸใƒ‰๏ผˆceramide๏ผ‰ใŒๆง˜ใ€…ใช็ต„็น”ใซ่“„็ฉใ—ใ€้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹้–ข็ฏ€ใฎๆœ‰็—›ๆ€ง่…ซ่„นใ€่‚‰่Šฝ่…ซๅฝขๆˆใ€ๆ‹˜็ธฎใฏๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚‹็‚Ž็—‡ๆ€งๅค‰ๅŒ–ใซๅŸบใฅใใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200198NANDO:2200565
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_03_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "congenital central hypoventilation syndrome" + "Farber disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1824http://nanbyodata.jp/ontology/NANDO_1200086
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00916http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_03_003/https://www.shouman.jp/disease/details/08_06_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100032http://nanbyodata.jp/ontology/NANDO_2100165
skos:altLabel - "CCHS" + "FD" @en
+ skos:altLabel + "Farber's lipogranulomatosis" + @en
+ skos:altLabel + "Farber็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008852http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค" + "ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200199 +
http://nanbyodata.jp/ontology/NANDO_2200566 (rdf:type owl:Class @@ -104470,72 +159457,98 @@

hasNotificationNumber2hasNotificationNumber128
dcterms:description - "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆidiopathic interstitial pneumonia, IIP๏ผ‰ใฏใ€ใŠใ‚‚ใซ่‚บใฎ้–“่ณชใซๆ…ขๆ€ง็š„ใช็‚Ž็—‡ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใฎใ†ใกใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" + "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ›ใƒซใƒŸใƒซใ‚ฐใƒชใ‚ทใƒณ็”Ÿๆˆ้…ต็ด ๏ผˆformyglycine-generating enzyme; FGE๏ผ‰ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹sulfatase modifying factor 1๏ผˆSUMF1๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€FGE่›‹็™ฝ่ณชใฎไธๅฎ‰ๅฎšๅŒ–ใ€ๅŸบ่ณชใจใฎๅนฒๆธ‰ใ€่ค‡ๆ•ฐใฎใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใƒ ใ‚ณๅคš็ณ–็—‡ใซ้กžไผผใ—ใŸๆง˜ใ€…ใช็ต„็น”้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚" @ja
dcterms:identifier2200199NANDO:2200566
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_094_01.pdf
rdfs:label - "idiopathic interstitial pneumonia" + "Multiple sulfatase deficiency" @en
rdfs:label - "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" + "ใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01716http://nanbyodata.jp/ontology/NANDO_1200624
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_004/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_094/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100033http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002429http://purl.obolibrary.org/obo/MONDO_0010088
skos:prefLabel - "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž" + "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200200 +
http://nanbyodata.jp/ontology/NANDO_2200567 (rdf:type owl:Class @@ -104543,67 +159556,105 @@

hasNotificationNumber1hasNotificationNumber136
dcterms:description - "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ๏ผˆHereditary interstitial lung disease: HILD๏ผ‰ใฏใ€้บไผๅญๅค‰็•ฐใŒไธปๅ› ใจใชใฃใฆ่ตทใ“ใ‚‹็จ€ใช้–“่ณชๆ€ง่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจX็ทšๅ†™็œŸใ‚ใ‚‹ใ„ใฏCT็”ปๅƒไธŠใฎใณใพใ‚“ๆ€ง้–“่ณชๆ€ง้™ฐๅฝฑใจๅ‘ผๅธ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง้–“่ณชๆ€ง่‚บ็‚Žใ€ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ใŠใ‚ˆใณๅฐๅ…ๆœŸ็™บ็—‡ใฎ้–“่ณชๆ€ง่‚บ็‚Žใ‚’ไปฃ่กจใจใ™ใ‚‹้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใŒใ€ๆˆไบบใซใชใฃใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚่จบๆ–ญใฎ้š›ใซใฏใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ‚’ๅซใ‚€ๅฅ‡ๅฝข็—‡ๅ€™็พคใ€ๅ‘ผๅธๅ™จใฎๅฝขๆ…‹็•ฐๅธธใ€้ชจ็ณป็ตฑ็–พๆ‚ฃใ€็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ€้‡็—‡ๆ–ฐ็”Ÿๅ…ไปฎๆญปใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…้ทๅปถๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใ€ๆ—ฉ็”ฃใ‚„ๅญๅฎฎๅ†…็‚Ž็—‡ใซ่ตทๅ› ใ™ใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃใชใฉใฎ็–พๆ‚ฃใƒป็—…ๆ…‹ใ‚’้™คๅค–ใ™ใ‚‹ใ€‚" + "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅ› ใงใ‚ใ‚‹ใ€‚GNPTใฏใ€ฮฑ2ฮฒ2ฮณ2ใฎ6ใคใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‹ใ‚‰ใชใ‚Šใ€่ฒฌไปป้บไผๅญใฏฮฑใŠใ‚ˆใณฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNTPAB้บไผๅญใŠใ‚ˆใณฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNPG้บไผๅญใฎ2ใคใงใ‚ใ‚‹ใ€‚้…ต็ด ๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒ็”Ÿๆˆใ•ใ‚ŒใŸใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใธใฎใ‚ฟใƒผใ‚ฒใƒ†ใ‚ฃใƒณใ‚ฐใซ็•ฐๅธธใ‚’ใใŸใ—๏ผŒ็ดฐ่ƒžๅค–ใƒžใƒˆใƒชใƒƒใ‚ฏใ‚นใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใŒๆฉŸ่ƒฝใ™ใ‚‹ใŸใ‚ใซใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€ง็’ฐๅขƒใŒๅฟ…่ฆใงใ‚ใ‚‹ใŸใ‚๏ผŒๆ‚ฃ่€…ใงใฏ๏ผŒใ‚ใ‚‰ใ‚†ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใŒ็ดฐ่ƒžๅ†…ใงๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200200NANDO:2200567
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_095_01.pdf
rdfs:label - "Congenital alveolar proteinosis" + "Mucolipidosis II" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01122http://nanbyodata.jp/ontology/NANDO_1200124
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_005/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2636
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_095/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100033http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "I-cell disease" + @en
+ skos:altLabel + "I-cell็—…" + @ja
+ skos:altLabel + "ML II" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009650
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡" + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200201 +
http://nanbyodata.jp/ontology/NANDO_2200568 (rdf:type owl:Class @@ -104611,62 +159662,86 @@

hasNotificationNumber1hasNotificationNumber137
+ dcterms:description + "1ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ใฎ่ปฝ็—‡ๅž‹ใงใ€N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚‹ใ€‚ๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ใ€”็–ซๅญฆใ€•10ไธ‡๏ฝž20ไธ‡ไบบใซ1ไบบใใ‚‰ใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2200201NANDO:2200568
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_096_01.pdf
rdfs:label - "Hereditary interstitial lung disease" + "Mucolipidosis III" @en
rdfs:label - "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" + "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_005/http://nanbyodata.jp/ontology/NANDO_1200125
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_096/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200200http://nanbyodata.jp/ontology/NANDO_2100165
skos:altLabel - "HILD" + "ML III" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018931
skos:prefLabel - "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ" + "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹" @ja
- - + - - + + - + - + + "ใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + "Pompe็—…" + @ja - - + + - +
http://nanbyodata.jp/ontology/nando#2200202 +
http://nanbyodata.jp/ontology/NANDO_2200569 (rdf:type owl:Class @@ -104674,89 +159749,93 @@

hasNotificationNumber3hasNotificationNumber127
dcterms:description - "่‚บ่ƒžๅ†…ใซใƒชใƒณ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚’ไธปๆˆๅˆ†ใจใ™ใ‚‹ๅพฎๅฐ็ต็ŸณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‘ผๅธ้šœๅฎณใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซใŠใ‘ใ‚‹้…ธๆ€งฮฑ-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚Šใ€ไธปใซ็ญ‹็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200202NANDO:2200569
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_04_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_097_01.pdf
rdfs:label - "pulmonary alveolar microlithiasis" + "Pompe disease" @en
rdfs:label - "่‚บ่ƒžๅพฎ็Ÿณ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6291 + rdfs:label + "ใƒใƒณใƒš็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01298http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2277
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_04_006/https://www.shouman.jp/disease/details/08_06_097/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100033http://nanbyodata.jp/ontology/NANDO_2100165
skos:altLabel - "PAM" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009928 + skos:altLabel + "glycogen storage disease type II" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018959http://purl.obolibrary.org/obo/MONDO_0009290
skos:prefLabel - "่‚บ่ƒžๅพฎ็Ÿณ็—‡" + "ใƒใƒณใƒš็—…" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200203 +
http://nanbyodata.jp/ontology/NANDO_2200570 (rdf:type owl:Class @@ -104764,67 +159843,86 @@

hasNotificationNumber10hasNotificationNumber117
dcterms:description - "ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใฎ่กจ้ขใซใฏๅคšๆ•ฐใฎ็ทšๆฏ›ใŒๅญ˜ๅœจใ—ใ€็ทšๆฏ›ใŒ้€ฃๅ‹•ใ—ใฆๅฃๅดใซๅ‘ใ‹ใฃใฆ้žญใ‚’ๆ‰“ใคใ‚ˆใ†ใซ้‹ๅ‹•ใ™ใ‚‹ใ“ใจใงใ€็ฒ˜ๆถฒๅฑคใฎๆตใ‚ŒใŒ็”Ÿใ˜ใ€ๅพฎ็ฒ’ๅญ็Šถใฎ็•ฐ็‰ฉใ€็ดฐ่Œใ€ๅ–€็—ฐใชใฉใ‚’ๆŽ’้™คใ—ใฆๆฐ—้“ๅ†…ใ‚’ๆธ…ๆต„ใซไฟใคใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ใ“ใฎ็ทšๆฏ›ใŒๆญฃๅธธใชๆง‹้€ ใจๆฉŸ่ƒฝใ‚’็™บๆฎใ™ใ‚‹ใŸใ‚ใซใฏใ€ๅคšๆ•ฐใฎ้บไผๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ทšๆฏ›้‹ๅ‹•ใŒ้šœๅฎณใ•ใ‚Œใ€ไธญ่€ณใ€่€ณ็ฎกใ€้ผปใ€ๅ‰ฏ้ผป่…”ใ€ๅ’ฝ้ ญใ‚’ๅซใ‚ใŸๅ‘ผๅธๅ™จ็ณปใฎๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๆ…ขๆ€งๅ‰ฏ้ผป่…”็‚Žใ‚„ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ‚’้ซ˜้ ปๅบฆใซๅˆไฝตใ™ใ‚‹ใ€‚ใ‹ใคใฆใฏ็ทšๆฏ›ไธๅ‹•็—‡ๅ€™็พคใจๅ‘ผใฐใ‚ŒใŸใŒใ€้‹ๅ‹•ใŒๅผฑใ„ใ‚‚ใฎใ‚„ๅ”่ชฟ้‹ๅ‹•ใŒไธๆƒใ„ใชใ‚‚ใฎใชใฉใ‚‚ไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๅœจใฎๅ‘ผ็งฐใซ่ฝใก็€ใ„ใŸใ€‚ใชใŠใ€ๆœฌ็—‡ใงใฏ่ƒŽๅ…ๆœŸใซๅทฆๅณใŒ้ฉๆญฃใซๅˆคๅˆฅใ•ใ‚Œใšใ€็ด„ๅŠๆ•ฐใงๅฎŒๅ…จๅ†…่‡“้€†ไฝใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚’Kartagener็—‡ๅ€™็พคใจๅ‘ผใถใŒใ€ๅ†…่‡“้€†ไฝใฎๆœ‰็„กใจ้‡็—‡ๅบฆใซใฏ้–ขไฟ‚ใŒใชใใ€ๆœฌๆ…‹ใฏๅŒใ˜ใงใ‚ใ‚‹ใ€‚" + "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒใปใจใ‚“ใฉใฎๅ†…่‡“็ต„็น”ไธญใฎ็ต„็น”็ƒๆ€งๆณกๆฒซ็ดฐ่ƒžใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใจใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎใƒฉใ‚คใ‚ฝใ‚ฝใƒผใƒ ่“„็ฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ้‡็—‡ๅž‹ใฎWolman็—…๏ผˆWolman disease๏ผ‰ใจ่ปฝ็—‡ๅž‹ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡๏ผˆcholesterol ester storage disease๏ผšCESD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200203NANDO:2200570
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_05_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_098_01.pdf
rdfs:label - "primary ciliary dyskinesia" + "Acid lipase deficiency" @en
rdfs:label - "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" + "ใ•ใ‚“ใ›ใ„ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_05_007/http://nanbyodata.jp/ontology/NANDO_1200142
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_098/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100034http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "Wolman disease and cholesterol ester storage disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016575http://purl.obolibrary.org/obo/MONDO_0019148
skos:prefLabel - "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค" + "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200204 +
http://nanbyodata.jp/ontology/NANDO_2200571 (rdf:type owl:Class @@ -104832,70 +159930,79 @@

hasNotificationNumber10hasNotificationNumber121
+ dcterms:description + "ใ‚ทใ‚นใƒใƒณใŒ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚3ๅž‹ใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€่…Ž๏ผˆไนณๅ…๏ผ‰ๅž‹ใฏใ€ใ™ในใฆใฎ็ดฐ่ƒžๅ†…ใงใ‚ทใ‚นใƒใƒณใŒ่“„็ฉใ—ใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š่…Žๆ€งใƒ•ใ‚กใƒณใ‚ณใƒ‹ใƒผ็—‡ๅ€™็พคใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธญ้–“๏ผˆ่‹ฅๅนด๏ผ‰ๅž‹ใฏใ€็ดฐ่ƒžๅ†…ใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎ้€ฒ่กŒใฏ็ทฉๅพใงใ€็™บ็—‡ใฏๆ€ๆ˜ฅๆœŸไปฅ้™ใงใ‚ใ‚‹ใ€‚้ž่…Ž๏ผˆ็œผ๏ผ‰ๅž‹ใฏใ€่ง’่†œใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎใฟใŒ็—‡็Šถใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200204NANDO:2200571
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_05_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_099_01.pdf
rdfs:label - "Kartagener syndrome" + "Cystinosis" @en
rdfs:label - "ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค" + "ใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2475http://nanbyodata.jp/ontology/NANDO_1200161
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_05_007/https://www.shouman.jp/disease/details/08_06_099/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200203http://nanbyodata.jp/ontology/NANDO_2100165
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009484
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016575http://purl.obolibrary.org/obo/MONDO_0016239
skos:prefLabel - "ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค" + "ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + "ใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200205 +
http://nanbyodata.jp/ontology/NANDO_2200572 (rdf:type owl:Class @@ -104903,84 +160010,79 @@

hasNotificationNumber12hasNotificationNumber138
dcterms:description - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡(Cystic fibrosis: CF)ใฏใ€cystic fibrosis transmembrane conductance regulator (CFTR) ้บไผๅญใฎๅค‰็•ฐใŒๅŽŸๅ› ใจใชใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CFTRใฏๅ…จ่บซใฎไธŠ็šฎ่†œ็ดฐ่ƒžใซ็™บ็พใ™ใ‚‹ใ‚ฏใƒญใƒผใƒซใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚Šใ€ใ‚คใ‚ชใƒณใจๆฐดใฎ่ผธ้€ใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ€‚CFTRใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ“ใฎ่ชฟ็ฏ€ๆฉŸๆง‹ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒๆฉŸ่ƒฝใซ็•ฐๅธธใ‚’ใใŸใ™ใ€‚ๆถˆๅŒ–็ฎกใ‚„ๆฐ—้“ใฎๅˆ†ๆณŒๆถฒใŒ็ฒ˜็จ ใจใชใ‚Šใ€่†ตๅค–ๅˆ†ๆณŒ็•ฐๅธธใซใ‚ˆใ‚‹่„‚่‚ชๅธๅŽไธๅ…จใ€ๆ „้คŠ้šœๅฎณใŒ่ตทใ“ใ‚‹ใ€‚ๆฐ—้“ๅˆ†ๆณŒใฎ็•ฐๅธธใฏๆŽ’็—ฐๅ›ฐ้›ฃใƒป้›ฃๆฒปๆ€งๆฐ—้“ๆ„ŸๆŸ“ใฎๅŽŸๅ› ใจใชใ‚Šใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใซ่‡ณใ‚‹ใ€‚ๆฌง็ฑณใฎ็–พๆ‚ฃๅcystic fibrosisใฎๅ’Œ่จณใฏๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใพใงๆˆ‘ใŒๅ›ฝใงใฏ่†ตๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใฎ็–พๆ‚ฃๅใง้›ฃ็—…็™ป้Œฒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ่†œใซใŠใ‘ใ‚‹ใ‚ทใ‚ขใƒซ้…ธใฎ่ผธ้€้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ้Š้›ขใ‚ทใ‚ขใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰่ปฝ็—‡ๅž‹ใฏSalla็—…ใ€้‡็—‡ๅž‹ใฏไนณๅ…้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใŠใ‚ˆใณใใฎไธญ้–“ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200205NANDO:2200572
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_06_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_100_01.pdf
rdfs:label - "cystic fibrosis" + "Free Sialic Acid Storage Disease" @en
rdfs:label - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2041 + rdfs:label + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00218http://nanbyodata.jp/ontology/NANDO_1200146
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_06_008/https://www.shouman.jp/disease/details/08_06_100/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100035
- skos:altLabel - "CF" - @enhttp://nanbyodata.jp/ontology/NANDO_2100165
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009061http://purl.obolibrary.org/obo/MONDO_0019366
skos:prefLabel - "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡" + "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200206 +
http://nanbyodata.jp/ontology/NANDO_2200573 (rdf:type owl:Class @@ -104988,72 +160090,86 @@

hasNotificationNumber4hasNotificationNumber122
dcterms:description - "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใฏใ€ๆง˜ใ€…ใชๅŽŸๅ› ใงๆฐ—็ฎกๆ”ฏๅฃใŒ็ ดๅฃŠใ•ใ‚Œใฆ่†จ้š†ใ—ใ€ๆฐ—็ฎกๆ”ฏๅ†…่…”ใŒๆ‹กๅผตใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅ†…่…”ใซใฏ่†ฟๆ€งใฎ็—ฐใŒๅ……ๆบ€ใ—ใ€ๆ…ขๆ€ง็š„ใซ็‚Ž็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ‹ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ€‚ๅ‰ฏ้ผป่…”็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใฏ็—…็†ๅญฆ็š„ใซ่ฆๅฎšใ•ใ‚Œใ‚‹็ฅž็ตŒๅค‰ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็ฅž็ตŒ็ดฐ่ƒžใ€ๅฟƒ็ญ‹ใ€้ชจๆ ผ็ญ‹ใซ้›ปๅญๅฏ†ๅบฆใŒ้ซ˜ใใ€่‡ชๅฎถ่›ๅ…‰ใ‚’็™บใ™ใ‚‹ใƒชใƒใƒ•ใ‚นใƒใƒณ้ก†็ฒ’ใฎ่“„็ฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200206NANDO:2200573
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_07_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label - "bronchiectasis" + "Neuronal ceroid lipofuscinoses" @en
rdfs:label - "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" + "ใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00892https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00149
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_07_009/https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100036http://nanbyodata.jp/ontology/NANDO_2100165
+ skos:altLabel + "NCL" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004822http://purl.obolibrary.org/obo/MONDO_0016295
skos:prefLabel - "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡" + "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - + + - + - + + "75ใ‹ใ‚‰101ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200207 +
http://nanbyodata.jp/ontology/NANDO_2200574 (rdf:type owl:Class @@ -105061,72 +160177,69 @@

hasNotificationNumber11hasNotificationNumber139
dcterms:description - "่‚บๆœซๆขขๆ€งใฎๅพฎๅฐๅ‡บ่ก€ใŒๅๅพฉใ—ใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณใŒ่‚บ็ต„็น”ใซๆฒˆ็€ใ—ใฆใใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ„ใ†ใ€‚ๆง˜ใ€…ใช็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใŒใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใ‚’็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ™ใ‚‹ใ€‚" + "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€็ดฐ่ƒžๅ†…ใซใ‚ใ‚‹ๅฐๅ™จๅฎ˜ใฎไธ€ใคใงใ‚ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใ‚„็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใฃใฆใ€ๅˆ†่งฃใ•ใ‚Œใ‚‹ในใ็‰ฉ่ณชใŒ่€ๅปƒ็‰ฉใจใ—ใฆไฝ“ๅ†…ใซ่“„็ฉใ—ใฆใ—ใพใ†ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚่“„็ฉ็‰ฉ่ณชใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹75ใ€œ101ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200207NANDO:2200574
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_08_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_102_01.pdf
rdfs:label - "idiopathic pulmonary hemosiderosis" - @en
rdfs:label - "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" + "75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1326 + rdfs:label + "Other lysosomal diseases" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_08_010/https://www.shouman.jp/disease/details/08_06_102/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100037
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008346http://nanbyodata.jp/ontology/NANDO_2100165
skos:prefLabel - "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น" + "75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200208 +
http://nanbyodata.jp/ontology/NANDO_2200575 (rdf:type owl:Class @@ -105134,79 +160247,79 @@

hasNotificationNumber14hasNotificationNumber83
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ‘ผๅธ้šœๅฎณใŒ่ปฝๅฟซใ—ใŸๅพŒใ€ใ‚ใ‚‹ใ„ใฏใใ‚Œใซๅผ•ใ็ถšใ„ใฆใ€้…ธ็ด ๅธๅ…ฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ‚ˆใ†ใชๅ‘ผๅธ็ชฎ่ฟซ็—‡็ŠถใŒๆ—ฅ้ฝข28ใ‚’่ถ…ใˆใฆ็ถšใใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ่‚บใซ็—…ๅค‰ใŒใชใ„็„กๅ‘ผๅธ็™บไฝœใ€ไธ€้Žๆ€งใซ้…ธ็ด ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŒ้•ทๆœŸ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ—ใชใ„่‚บ็‚Žใชใฉใฎๆ€ฅๆ€ง็–พๆ‚ฃใฏ้™คๅค–ใ™ใ‚‹ใ€‚" + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡(Peroxisome Biogenesis Disorders; PBD)ใฏใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใฎ่†œใฎ็”Ÿๅˆๆˆใ‚„่›‹็™ฝใฎๅฑ€ๅœจใซใ‹ใ‹ใ‚ใ‚‹PEX้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ่‡ชไฝ“ใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใใ“ใซๅฑ€ๅœจใ™ในใ่›‹็™ฝใฎใ‹ใ‹ใ‚ใ‚‹ไปฃ่ฌๆฉŸ่ƒฝใŒๅบƒ็ฏ„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใพใงใซ็—…ๅ› ใจใ•ใ‚Œใ‚‹PEX้บไผๅญใฏ13ๅ€‹ๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎใ†ใก่‡ดๆญปๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใง็‚น็Šถ็Ÿณ็ฐๅŒ–ใ‚’ไผดใ†่ฟ‘ไฝๅ„ชไฝใฎๅ››่‚ข็Ÿญ็ธฎ็—‡Rhizomelic chondrodysplasia punctate (RCDP) type1ใฎ็—…ๅ› ใงใ‚ใ‚‹PEX7ใ‚’้™คใ12ๅ€‹ใฎPEX้บไผๅญ็•ฐๅธธ็—‡ใŒZellwegerใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใจใ—ใฆใ€่‡จๅบŠ็š„ใช้‡็—‡ๅบฆใซใ‚ˆใ‚Šๆœ€้‡็—‡ๅž‹ใฎZellweger็—‡ๅ€™็พค(Zellweger syndrome; ZS)ใ€ใ‚„ใ‚„่ปฝ็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(neonatal adrenoleukodystrophy; NALD)ใ€ๆˆไบบ็”Ÿๅญ˜ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ไนณๅ…ๅž‹Refsum็—…(infantile Refsum disease; IRD)ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200208NANDO:2200575
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_09_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_103_01.pdf
rdfs:label - "chronic lung disease" + "Peroxisome Biogenesis Disorders" @en
rdfs:label - "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" + "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1941http://nanbyodata.jp/ontology/NANDO_1200759
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_09_011/https://www.shouman.jp/disease/details/08_07_103/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100038
- skos:altLabel - "CLD" - @enhttp://nanbyodata.jp/ontology/NANDO_2100166
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008964http://purl.obolibrary.org/obo/MONDO_0019234
skos:prefLabel - "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ" + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200209 +
http://nanbyodata.jp/ontology/NANDO_2200576 (rdf:type owl:Class @@ -105214,72 +160327,79 @@

hasNotificationNumber13hasNotificationNumber82
dcterms:description - "ไธๅฏ้€†ๆ€งใฎ็ดฐๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใซใ‚ˆใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใชใฉใฎๆ›ๆฐ—้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(adrenoleukodystrophy; ALD)ใฏไธญๆžข็ฅž็ตŒใฎ็™ฝ่ณชใจๅ‰ฏ่…Žใฎ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ€๏ผ“ใ€œ10ๆญณใง็™บ็—‡ใ—ใฆๅคง่„ณๅŠ็ƒใฎๅบƒ็ฏ„ใช้€ฒ่กŒๆ€ง่„ฑ้ซ„ใจๅ‰ฏ่…ŽๆฉŸ่ƒฝไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹ๅฐๅ…ๅคง่„ณๅž‹ใ‚„20ๆญณไปฅ้™ใซ็—™ๆ€งๆญฉ่กŒใง็™บ็—‡ใ™ใ‚‹adrenomyeloneuropathy (AMN)ใ€ๆˆไบบใงๆ€งๆ ผๅค‰ๅŒ–ใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็ฒพ็ฅž็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ๆˆไบบๅคง่„ณๅž‹ใซใ€ๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใฎใฟใฎใ‚ฟใ‚คใƒ—ใชใฉๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚’ๆœ‰ใ—ใฆใ„ใ‚‹ใ€‚็—…ๅ› ใฏXq28ใซๅญ˜ๅœจใ™ใ‚‹ABCD1้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ—ใ‹ใ—ใใฎ็—…ๆ…‹ใซใคใ„ใฆใฏใปใจใ‚“ใฉ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚‚้บไผๅญๅค‰็•ฐใจใฏ็›ธ้–ขใŒ็„กใใ€่„ฑ้ซ„ใฎ็™บ็—‡ๆฉŸๅบใ‚„ๆฅต้•ท้Ž–่„‚่‚ช้…ธ่“„็ฉใฎ็—…ๆ…‹ใธใฎ้–ขไธŽใ‚‚ๆœช่งฃๆ˜Žใงใ‚ใ‚‹ใ€‚ใพใŸๅคง่„ณๅž‹ใฎๅ”ฏไธ€ใฎๆฒป็™‚ๆณ•ใฏ็™บ็—‡ๆ—ฉๆœŸใฎ้€ ่ก€็ดฐ่ƒž็งปๆคใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200209NANDO:2200576
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_10_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "bronchiolitis obliterans" + "Adrenoleukodystrophy" @en
rdfs:label - "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" + "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01873http://nanbyodata.jp/ontology/NANDO_1200165
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_10_012/https://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100039http://nanbyodata.jp/ontology/NANDO_2100166
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015265http://purl.obolibrary.org/obo/MONDO_0018544
skos:prefLabel - "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž" + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200210 +
http://nanbyodata.jp/ontology/NANDO_2200577 (rdf:type owl:Class @@ -105287,72 +160407,91 @@

hasNotificationNumber7hasNotificationNumber84
dcterms:description - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ๅ†…ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ๆฌ ๆๅญ”ใฏๆจช้š”่†œใฎใฉใฎ้ƒจไฝใซ็”Ÿใ˜ใฆใ‚‚ใ‚ˆใ„ใŒใ€้ ปๅบฆใŒ้ซ˜ใ่‡จๅบŠ็š„ๆ„็พฉใŒๅคงใใ„ใฎใฏใ€ๆฌ ๆๅญ”ใŒๆจช้š”่†œใฎๅพŒๅค–ๅดใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใงใ‚ใ‚‹ใŸใ‚ใ€ๅ˜ใซๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ขใจใ„ใˆใฐใ€ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใฎใ“ใจใ‚’ๆŒ‡ใ™ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่ƒธ่…”ๅ†…ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚" + "ใƒฌใƒ•ใ‚ตใƒ ็—…ใฏใ€โ€heredopathia atactica polyneuritiformisโ€ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๆ‚ฃ่€…ใฏ่‹ฑๅ›ฝใ‚„ๅŒ—ๆฌงใซๅคšใ„ใ€‚็„กๅ—…่ฆš็—‡ใƒปๆ—ฉๆœŸ็™บ็—‡ใฎ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใซๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ€้ญš้ฑ—็™ฌใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹phytanic-CoA hydroxylase (phyH) ใฎๆฌ ๆใซใ‚ˆใ‚Š่ก€ไธญใฎใƒ•ใ‚ฃใ‚ฟใƒณ้…ธใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200210NANDO:2200577
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_11_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_105_01.pdf
rdfs:label - "congenital diaphragmatic hernia" + "Refsum disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + "ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฌใƒ•ใ‚ตใƒ ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01241http://nanbyodata.jp/ontology/NANDO_1200769
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_11_013/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2946
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_105/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100040http://nanbyodata.jp/ontology/NANDO_2100166
+ skos:altLabel + "Refsum็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005711http://purl.obolibrary.org/obo/MONDO_0009958
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข" + "ใƒฌใƒ•ใ‚ตใƒ ็—…" @ja
- - + - - + + - + - + + "103ใ‹ใ‚‰105ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200211 +
http://nanbyodata.jp/ontology/NANDO_2200578 (rdf:type owl:Class @@ -105360,62 +160499,69 @@

hasNotificationNumber9hasNotificationNumber85
dcterms:description - "่‚บๅฎŸ่ณชๅ†…ใซๅ…ˆๅคฉๆ€งใซๆฐ—้“ไปฅๅค–ใซๆ’ๅธธ็š„ใซๅšข่ƒžใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใฏๅ‡บ็”Ÿๅ‰ใซ่ƒŽๅ…่‚บใฎ็•ฐๅธธใจใ—ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๅ…จๅ›ฝ็š„ใช่ชฟๆŸปใงใฏใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใฎ10-15๏ผ…็จ‹ๅบฆใฏๅ‘จ็”ฃๆœŸใซใ€่ƒŽๅ…ๆฐด่…ซใ€ๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใ€็”Ÿ็›ดๅพŒใฎๅ‘ผๅธไธๅ…จใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅˆ†ใ‹ใฃใŸใ€‚็”Ÿ็›ดๅพŒใซๅ‘ผๅธๅ™จ็—‡็ŠถใŒใชใ„ๅ ดๅˆใงใ‚‚ใ€9ๅ‰ฒไปฅไธŠใฎ็—‡ไพ‹ใฏๅนผๅ…ๆœŸใฎ้–“ใซๅๅพฉใ™ใ‚‹่‚บๆ„ŸๆŸ“ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใŸใ‚ใ€ไนณๅ…ๆœŸใ€้…ใใ‚‚ๅนผๅ…ๆœŸๆ—ฉๆœŸใพใงใซๆ‰‹่ก“็š„ใซ็—…ๅค‰ใ‚’ๅˆ‡้™คใ™ในใใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€้ƒจใฎ็—‡ไพ‹ใงใฏ่ค‡ๆ•ฐ่‚บ่‘‰ใซ็—…ๅค‰ใŒใฟใ‚‰ใ‚Œใ€ๆ‰‹่ก“ๅพŒใ‚‚ๆˆไบบๅพŒใพใงๅšข่ƒžๆ€ง็—…ๅค‰ใฎ้บๆฎ‹ใ‚„ใ€ๅ‘ผๅธ้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๆ‰‹่ก“ใฎๅๅพฉใ‚„ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆœฌ็–พๆ‚ฃใ‹ใ‚‰ใฎ็™บใŒใ‚“ใฎๅ ฑๅ‘ŠใŒๆตทๅค–ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ1992ๅนดไปฅ้™ใซๅ‡บ็”Ÿใ—ใŸ850ไพ‹ไปฅไธŠใฎ็—‡ไพ‹ไธญใง็™บใŒใ‚“ไพ‹ใฏ็ขบ่ชใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ“ใ‚Œใ‚‰ใ‹ใ‚‰ใ€ๆ‰‹่ก“ๅพŒใซๆญฃๅธธ่‚บๆฉŸ่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹็—‡ไพ‹ใŒๅคšใ„ไธ€ๆ–นใงใ€ๆˆไบบไปฅ้™ใ‚‚็ตŒ้Ž่ฆณๅฏŸใ‚’่ฆใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" + "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใ“ใ‚Œใ‚‰ใฎ้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใ‚„่†œใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใฎใซๅฟ…่ฆใชPEX้บไผๅญใฎ็•ฐๅธธ๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ2ใคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹103ใ€œ105ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200211NANDO:2200578
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_03_12_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_106_01.pdf
rdfs:label - "Congenital cystic lung disease" - @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" + "103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" @ja
+ rdfs:label + "Other peroxisomal diseases" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/03_12_014/https://www.shouman.jp/disease/details/08_07_106/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100041http://nanbyodata.jp/ontology/NANDO_2100166
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ" + "103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200212 +
http://nanbyodata.jp/ontology/NANDO_2200579 (rdf:type owl:Class @@ -105423,72 +160569,91 @@

hasNotificationNumber72hasNotificationNumber25
dcterms:description - "ๆดž็ต็ฏ€ใฎไธ€้Žๆ€งใ‚ใ‚‹ใ„ใฏๆŒ็ถšๆ€งใฎๆฉŸ่ƒฝไธๅ…จใ‚‚ใ—ใใฏใ€ๆดž็ต็ฏ€ใ‹ใ‚‰ๅฟƒๆˆฟใธใฎ่ˆˆๅฅฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚‹็—‡ๅ€™็พคใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚Rubensteinใฎๅˆ†้กžใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚Rubensteinใฎๅˆ†้กž๏ผš I็พค๏ผšๅŽŸๅ› ไธๆ˜Žใฎๆดžๆ€งๅพ่„ˆ๏ผˆ๏ผœ50/ๅˆ†๏ผ‰ II็พค๏ผšๆดžๅœๆญขใพใŸใฏๆดžๆˆฟใƒ–ใƒญใƒƒใ‚ฏ III็พค๏ผšๅพ่„ˆ้ ป่„ˆ็—‡ๅ€™็พคๅพ่„ˆใซใ‚ˆใ‚‹็—‡็ŠถใŒใ‚ใ‚‹ใ‚‚ใฎใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใงใ‚ใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆคใˆ่พผใฟๅพŒใฏใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใƒšใƒผใ‚นใƒกใƒผใ‚ซ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€ง้Š…ไปฃ่ฌ็•ฐๅธธ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ่‚่‡“ใ‚’ใฏใ˜ใ‚๏ผŒๅคง่„ณๅŸบๅบ•้ƒจ๏ผŒ่ง’่†œใŠใ‚ˆใณ่…Ž่‡“ใชใฉใซ้Žๅ‰ฐใช้Š…ใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒ็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ" @ja
dcterms:identifier2200212NANDO:2200579
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_08_107_01.pdf
rdfs:label - "Sick sinus syndrome" + "Wilson disease" @en
rdfs:label - "ๆดžไธๅ…จ็—‡ๅ€™็พค" + "ใ†ใƒใ‚‹ใใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00729http://nanbyodata.jp/ontology/NANDO_1200655
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_01_001/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3187
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_107/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100043http://nanbyodata.jp/ontology/NANDO_2100167
+ skos:altLabel + "Wilson็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001823http://purl.obolibrary.org/obo/MONDO_0010200
skos:prefLabel - "ๆดžไธๅ…จ็—‡ๅ€™็พค" + "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200213 +
http://nanbyodata.jp/ontology/NANDO_2200580 (rdf:type owl:Class @@ -105496,69 +160661,91 @@

hasNotificationNumber95hasNotificationNumber29
dcterms:description - "ๅฟƒ้›ปๅ›ณใงPR้–“้š”ใฎๅปถ้•ทใ‚’ไผดใ‚ใšใ€็ช็„ถๅฟƒๅฎคใธใฎไผๅฐŽใŒ้€”็ตถใ—ใ€๏ผ‘ใ€œ๏ผ’ๆ‹ใฎQRSๆณขใŒ่„ฑ่ฝใ™ใ‚‹ๅฟƒๆˆฟๅฟƒๅฎคไผๅฐŽ้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใ€‚1ใ€œ2ๆ‹ใฎQRS่„ฑ่ฝใงใ‚ใ‚Œใฐใ€็—‡็Šถใ‚’่จดใˆใ‚‹ใ“ใจใฏๅฐ‘ใชใ„ใŒใ€2๏ผš1ๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏไปฅไธŠใฎ้ซ˜ๅบฆๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใงใฏๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซๆบ–ใ˜ใŸ็ตŒ้Ž่ฆณๅฏŸใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซ้€ฒ่กŒใ™ใ‚Œใฐใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใฎ้ฉๅฟœใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "้Š…ใฎ่…ธ็ฎกใงใฎๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€่‘—ๆ˜Žใช้Š…ๆฌ ไน้šœๅฎณใ‚’ใใŸใ™XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚Š้‡็ฏคใชไธญๆžข็ฅž็ตŒ้šœๅฎณใ€็‰นๅพด็š„ใชkinky hairใ€็ตๅˆ็น”็•ฐๅธธ๏ผˆ่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎกใฎ่„†ๅผฑใƒป่›‡่กŒใ€้ชจ็ฒ—้ฌ†็—‡ใ€็šฎ่†šใƒป้–ข็ฏ€ใฎ้Žไผธๅฑ•๏ผ‰ใ‚’ใใŸใ™ใ€‚็ฅž็ตŒ้šœๅฎณใฏ็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ๆœˆใ”ใ‚ใซ็™บ็—‡ใ™ใ‚‹ใ€‚็ฅž็ตŒ้šœๅฎณ็™บ็—‡ๅ‰ใซใƒ’ใ‚นใƒใ‚ธใƒณ้Š…็šฎไธ‹ๆณจๅฐ„ใฎๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚Œใฐใ€็ฅž็ตŒ้šœๅฎณใฏไบˆ้˜ฒใชใ„ใ—ใฏ่ปฝๆธ›ใงใใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆฒป็™‚้–‹ๅง‹ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒ้šœๅฎณใฏๅ…จใๆ”นๅ–„ใ—ใชใ„ใ€‚็–ซๅญฆ๏ผšๆˆ‘ใŒๅ›ฝใงใฎ็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ็”ทๅญ็ด„12ไธ‡ไบบใซ1ไบบใจๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ”ใใพใ‚Œใซๅฅณๅญใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200213NANDO:2200580
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_08_108_01.pdf
rdfs:label - "Mobitz type II second degree atrioventricular block" + "Menkes disease" @en
rdfs:label - "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ" + "ใ‚ใ‚“ใ‘ใ™ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒณใ‚ฑใ‚น็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_02_002/http://nanbyodata.jp/ontology/NANDO_1200653
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3476
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_108/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100044http://nanbyodata.jp/ontology/NANDO_2100167
skos:altLabel - "Mobitz2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ " + "Menkes็—…" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010651
skos:prefLabel - "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ" + "ใƒกใƒณใ‚ฑใ‚น็—…" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200214 +
http://nanbyodata.jp/ontology/NANDO_2200581 (rdf:type owl:Class @@ -105566,62 +160753,84 @@

hasNotificationNumber9hasNotificationNumber26
dcterms:description - "PๆณขใŒๅฟƒๅฎคใซไผๅฐŽใ›ใšใ€PๆณขใจQRSๆณขใŒๅ…จใ็‹ฌ็ซ‹ใ—ใŸ่ชฟๅพ‹ใ‚’ใจใ‚‹ใ€‚่ƒŽๅ…ใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Š๏ผˆๅ…ˆๅคฉๆ€งๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ๏ผ‰ใ€ใ“ใฎๅ ดๅˆใ€ๆŠ—SS-AๆŠ—ไฝ“ใ€ๆŠ—SS-BๆŠ—ไฝ“้™ฝๆ€งใฎๆฏใ‹ใ‚‰ใฎๅ‡บ็”Ÿๅ…ใฎใ“ใจใŒๅคšใ„ใ€‚ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ€ๅŽŸๅ› ไธๆ˜Žใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—‡ๅ€™ๆ€งๅพ่„ˆใ€ๅฟƒๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใ€ไฝŽๆ‹ๅ‡บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใ‚’่กŒใชใˆใฐไบˆๅพŒใฏๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็„กๆฒป็™‚ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ๆœฌ็—‡ๅ€™็พคใฏใƒกใƒณใ‚ฑใ‚น็—…ใฎ่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚่ฒฌไปป่›‹็™ฝใงใ‚ใ‚‹ATP7Aใฎๆดปๆ€งใŒใ‚ใ‚‹็จ‹ๅบฆๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€็—‡็ŠถใŒใƒกใƒณใ‚ฑใ‚น็—…ใ‚ˆใ‚Š่‘—ใ—ใ่ปฝใ„ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎก่›‡่กŒใชใฉใฎ็ตๅˆ็น”็•ฐ็ŠถใŒไธป็—‡็Šถใงใ‚ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚" @ja
dcterms:identifier2200214NANDO:2200581
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_03_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_08_109_01.pdf
rdfs:label - "Complete atrio-ventricular block" + "Occipital horn syndrome" @en
rdfs:label - "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ" + "ใŠใใ—ใดใŸใ‚‹ใƒปใปใƒผใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_03_003/http://nanbyodata.jp/ontology/NANDO_1200654
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3389
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_109/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100045http://nanbyodata.jp/ontology/NANDO_2100167
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010572
skos:prefLabel - "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ" + "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200215 +
http://nanbyodata.jp/ontology/NANDO_2200582 (rdf:type owl:Class @@ -105629,77 +160838,91 @@

hasNotificationNumber13hasNotificationNumber28
dcterms:description - "ๅˆบๆฟ€ไผๅฐŽ็ณปใฎๅทฆ่„šใ‚‚ใ—ใใฏๅณ่„šใฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅน…ใฎๅบƒใ„QRSใงใ€QRSๆ™‚้–“ใฏ0.12็ง’ไปฅไธŠใจใชใ‚‹ใ€‚ๅคšใใฏ็‰น็™บๆ€งใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใ€‚่„šใƒ–ใƒญใƒƒใ‚ฏใฎใฟใงใฏๆฒป็™‚ใฎๅฟ…่ฆใฏใชใ„ใ€‚็‰น็™บไพ‹ใฎไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" + "ใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ้‰„ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผŽไธญๆžข็ฅž็ตŒ๏ผŒ่‚่‡“๏ผŒ่„พ่‡“ใชใฉใ‚’ไธญๅฟƒใซๅคšๅฒใซใ‚ใŸใ‚‹่‡“ๅ™จใซ้‰„ใŒๆฒˆ็€ใ™ใ‚‹๏ผŽ" @ja
dcterms:identifier2200215NANDO:2200582
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_04_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_08_110_01.pdf
rdfs:label - "Bundle branch block" + "Aceruloplasminemia" @en
rdfs:label - "่„šใƒ–ใƒญใƒƒใ‚ฏ" + "ใ‚€ใ›ใ‚‹ใ‚ใทใ‚‰ใ™ใฟใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=213http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4233
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_04_004/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02206
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_110/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100046http://nanbyodata.jp/ontology/NANDO_2100167
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007240 + skos:altLabel + "Aceruloplasminaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020803http://purl.obolibrary.org/obo/MONDO_0011426
skos:prefLabel - "่„šใƒ–ใƒญใƒƒใ‚ฏ" + "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200216 +
http://nanbyodata.jp/ontology/NANDO_2200583 (rdf:type owl:Class @@ -105707,62 +160930,84 @@

hasNotificationNumber67hasNotificationNumber24
dcterms:description - "2็จฎ้กžไปฅไธŠใฎQRSๆณขๅฝขใฎๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ€‚ใปใจใ‚“ใฉใŒๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ไผดใ‚ใชใ„ใ€‚้‹ๅ‹•่ฒ ่ทใงๅ†็พๆ€งใ‚’ใ‚‚ใฃใฆ๏ผŒๅฟƒๅฎคๆ‹ๆ•ฐ200 ไปฅไธŠใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚„ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏใ€้‹ๅ‹•ๅˆถ้™ใŒๅฟ…่ฆใงใ€่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ๅ˜ๅฝขๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใจๆฏ”่ผƒใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใซ้–ขใ—ใฆใฏใ„ใพใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚" + "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ณๅ†…ใซๆฏ’ๆ€งใฎๅผทใ„ไบœ็กซ้…ธใŒๅคง้‡ใซ่“„็ฉใ—้‡็ฏคใช่„ณ้šœๅฎณใ‚’็คบใ—ใ€่‘—ๆ˜Žใช็ฅž็ตŒ็ดฐ่ƒžใฎ่„ฑ่ฝใ‚„ๅคง่„ณ็™ฝ่ณช่„ฑ้ซ„ใ€ๅคš็™บๆ€งใฎ็ฉบๆดžๆ€ง็—…ๅค‰ใ€ใ‚ฐใƒชใ‚ชใƒผใ‚ทใ‚นใ€็šฎ่ณชๆทฑ้ƒจใฎๆตท็ถฟ็Šถๅค‰ๆ€งใจๅด่„ณๅฎคใฎๆ‹กๅคงใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใ€ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200216NANDO:2200583
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_05_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_08_111_01.pdf
rdfs:label - "Polymorphic ventricular premature beat" + "sulfite oxidase deficiency" @en
rdfs:label - "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" + "ใ‚ใ‚Šใ‚…ใ†ใ•ใ‚“ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_05_005/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3072
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01237
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_111/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100047http://nanbyodata.jp/ontology/NANDO_2100167
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010089
skos:prefLabel - "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ" + "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200217 +
http://nanbyodata.jp/ontology/NANDO_2200584 (rdf:type owl:Class @@ -105770,62 +161015,89 @@

hasNotificationNumber26hasNotificationNumber27
dcterms:description - "WPW็—‡ๅ€™็พคใฏฮ”ๆณขใ€PQๆ™‚้–“็Ÿญ็ธฎใ€QRSๅน…ใฎๅปถ้•ทใชใฉ็‰นๅพด็š„ใชๅฟƒ้›ปๅ›ณใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ไธŠๅฎค้ ปๆ‹ไธญใฎๅฟƒ้›ปๅ›ณใฏใปใจใ‚“ใฉใฎๅ ดๅˆๅน…ใฎ็‹ญใ„QRSๆณขใงใ€ไธ‹่จ˜ใซ่ฟฐในใ‚‹ใ‚ˆใ†ใซๆˆฟๅฎค็ต็ฏ€ใ‚’้ †ไผๅฐŽ๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคใธไผๅฐŽใ™ใ‚‹๏ผ‰ใ€ๅ‰ฏไผๅฐŽ่ทฏใ‚’้€†ไผๅฐŽ๏ผˆๅฟƒๅฎคใ‹ใ‚‰ๅฟƒๆˆฟใธ้€†ไผๅฐŽ๏ผ‰ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ—ใŸๅ ดๅˆใ€ๅฟƒๆˆฟ็ดฐๅ‹•ใซไผดใ†ๅฝๆ€งๅฟƒๅฎค้ ปๆ‹ใซใ‚ˆใ‚‹็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŒใ€WPW็—‡ๅ€™็พคใฎ1%ไปฅไธ‹ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ใใฎๅคšใใฏ10ไปฃไปฅๅพŒใงใ‚ใ‚‹ใ€‚้ ปๆ‹็™บไฝœใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ่–ฌ็‰ฉๆฒป็™‚ใพใŸใฏใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ใซไฝฟ็”จไธ่ƒฝใชๅ ดๅˆใพใŸใฏๆ‚ฃ่€…ใŒ่–ฌ็‰ฉๆฒป็™‚ใฎ็ถ™็ถšใ‚’ๆœ›ใพใชใ„ๅ ดๅˆใซใฏใ€้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ไธ€่ˆฌใฎๆญฃๅธธไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใ€‚" + "่…ธ็ฎกใ‹ใ‚‰ใฎไบœ้‰›ๅธๅŽ้šœๅฎณใ‚’็—…ๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—‡็Šถใฏ็—…ๅใฎ้€šใ‚Š็šฎ่†š็—‡็ŠถใŒไธญๅฟƒใงใ‚ใ‚‹๏ผŽ" @ja
dcterms:identifier2200217NANDO:2200584
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_06_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_08_112_01.pdf
rdfs:label - "Supraventricular tachycardia due to WPW syndrome" + "Acrodermatitis enteropathica" @en
rdfs:label - "ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚‡ใ†ใ›ใ„ใ—ใŸใ‚“ใฒใตใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_06_006/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1681
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1682
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00212
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_112/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100048http://nanbyodata.jp/ontology/NANDO_2100167
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008713
skos:prefLabel - "ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰" + "ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž" @ja
- - + - - + + - + - + + "107ใ‹ใ‚‰112ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ‚“ใžใใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200218 +
http://nanbyodata.jp/ontology/NANDO_2200585 (rdf:type owl:Class @@ -105833,62 +161105,69 @@

hasNotificationNumber27hasNotificationNumber30
dcterms:description - "่ค‡ๆ•ฐใพใŸใฏๅบƒใ„็ฏ„ๅ›ฒใง็•ฐๅธธ่‡ชๅ‹•่ƒฝใฎไบข้€ฒใ‚„ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅไธ‹ใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚1๏ผŽ2ใ‚ซๆ‰€ไปฅไธŠใฎ็•ฐใชใฃใŸ้ƒจไฝใฎๅฟƒๆˆฟใ‹ใ‚‰้ ปๆ‹ใŒ็™บ็”Ÿใ™ใ‚‹๏ผŽๅ„ใ€…ใฎๅฟƒๆˆฟๆณขใฎๅฟƒๆˆฟ่ˆˆๅฅฎ้ †ไฝใ‚„ๅฟƒๆˆฟ้›ปไฝใŒ็•ฐใชใ‚‹๏ผŽๅคšใใฏnarrow QRSใงใ‚ใ‚‹ใŒใ€ๅฟƒๅฎคๅ†…ๅค‰่กŒไผๅฐŽใซใ‚ˆใ‚Š๏ผŒๅน…ๅบƒใ„QRSๆณขใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ2๏ผŽๅฟƒๆˆฟใƒšใƒผใ‚ทใƒณใ‚ฐใซใ‚ˆใ‚‹ไธๆ•ด่„ˆใฎ่ช˜็™บ๏ผŒๅœๆญขใฏใงใใชใ„๏ผŽ3๏ผŽ้ ปๆ‹ไธญใฎๅฟƒๆˆฟใฎ้ซ˜้ ปๅบฆๅˆบๆฟ€ใงใฏไธ€้Žๆ€งใซ้ ปๆ‹ใŒๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ ปๆ‹ใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใŒใคใ‘ใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้ ปๆ‹ใŒๆŒ็ถšใ™ใ‚Œใฐใ€้ ปๆ‹ไพๅญ˜ๆ€งๅฟƒ็ญ‹็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ไบœ้‰›ใ‚„้Š…ใชใฉใฎ้‡‘ๅฑž๏ผˆๅพฎ้‡ๅ…ƒ็ด ๏ผ‰ใฎๅธๅŽใ‚„่ปข้€ใซ้–ขใ‚ใ‚‹่›‹็™ฝ่ณชใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใ€่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹107ใ€œ112ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ้‡‘ๅฑžไปฃ่ฌใซ้šœๅฎณใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200218NANDO:2200585
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_06_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_08_113_01.pdf
rdfs:label - "Multiple atrial tachycardia" - @en
rdfs:label - "ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹" + "107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorders of metal metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_06_007/https://www.shouman.jp/disease/details/08_08_113/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100048http://nanbyodata.jp/ontology/NANDO_2100167
skos:prefLabel - "ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹" + "107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + "Lesch-Nyhan syndrome" + @en + "ใฒใฝใใ•ใ‚“ใกใ‚“ใใ‚ใซใ‚“ใปใ™ใปใ‚Šใผใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200219 +
http://nanbyodata.jp/ontology/NANDO_2200586 (rdf:type owl:Class @@ -105896,62 +161175,112 @@

hasNotificationNumber28hasNotificationNumber80
dcterms:description - "ๆˆฟๅฎค็ต็ฏ€ใŠใ‚ˆใณใใฎๅ‘จๅ›ฒใฎๅฟƒๆˆฟ็ญ‹ใ‚’ไป‹ใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผๆ€ง้ ปๆ‹ใง๏ผŒไผๅฐŽ้€ŸๅบฆใŒ้€Ÿใ„้€ŸไผๅฐŽ่ทฏ๏ผˆfast pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้…ใ„้…ไผๅฐŽ่ทฏ๏ผˆslow pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้žๅธธใซ้…ใ„ไผๅฐŽ่ทฏ๏ผˆsuper slow pathway๏ผ‰ใŒ้ ปๆ‹ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚Slow-Fastๅž‹ใฎๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฏๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฎ80๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ใ€‚ใ“ใฎๅž‹ใฏใ€right posterior extensionใŒ้ †่กŒๆ€ง๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคๅดใธใฎไผๅฐŽ๏ผ‰ใฎ้…ไผๅฐŽ่ทฏใจ่จ€ใ‚ใ‚ŒใฆใŠใ‚Šใ€ใ“ใ“ใ‚’ไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒๆˆฟๅฎค็ต็ฏ€ใ‚’ไป‹ใ—ใฆleft posterior extensionใธไผๅฐŽใ™ใ‚‹ใ€‚ใ“ใฎ่ˆˆๅฅฎใฏใ€ๅทฆๆˆฟใจๅ† ้™่„ˆๆดž้–“ใฎmuscular connectionใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžใธไผๅฐŽใ—ใ€ๅ† ้™่„ˆๆดžๅ†…ใฎ็ญ‹ๆ€ง็ต„็น”ใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžๅ…ฅๅฃ้ƒจใซ่ˆˆๅฅฎใŒไผๅฐŽใ—ใ€ใ“ใ“ใ‹ใ‚‰right posterior extensionใธ่ˆˆๅฅฎใŒไผๅฐŽใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้€ŸไผๅฐŽ่ทฏใฏใ€ๆˆฟๅฎค็ต็ฏ€ใ‚‚ใ—ใใฏleft posterior extensionใฎไธ€้ƒจใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸใ€้…ไผๅฐŽ่ทฏใ‹ใ‚‰ๆˆฟๅฎค็ต็ฏ€ใธไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒใ€Kochไธ‰่ง’ใฎๅณๆˆฟๅดใ‚’ไผๅฐŽใ™ใ‚‹ใจใฎ่ชฌใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใฎ็™บ็—‡ใฏๅฐ‘ใชใใ€ๅนผๅ…ใ€ๅญฆ็ซฅใ€ๆ€ๆ˜ฅๆœŸใซใ‹ใ‘ใฆ้ ปๅบฆใฏๅข—ๅŠ ใ™ใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใฎ้ฉๅฟœใฏใ€ๅคฑ็ฅžใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚„ใ€่ปฝ็—‡็Šถใงใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ไผดใ†้ ปๆ‹็™บไฝœใฎๆ—ขๅพ€ใŒใ‚ใ‚‹ๅ ดๅˆใ€ใพใŸใฏใ€้ ปๆ‹็™บไฝœใŒใ‚ใ‚Š๏ผŒ่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ไฝฟ็”จไธ่ƒฝใพใŸใฏๆ‚ฃ่€…ใŒๆœ›ใพใชใ„ๅ ดๅˆใงใ‚ใ‚‹ใ€‚" + "ใƒ—ใƒชใƒณใ‚ตใƒซใƒ™ใƒผใ‚ธ้…ต็ด ใงใ‚ใ‚‹ใ€ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณ-ใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆHPRT๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซใปใผๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒ—ใƒชใƒณไฝ“ใฎๅˆๆˆใŒไธŠๆ˜‡ใ—ใ€้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™ใปใ‹ใ€ไธ้šๆ„้‹ๅ‹•ใ€็ญ‹็กฌ็›ดใ€็ฒพ็ฅž้…ๆปžใ€็‰นๆœ‰ใฎ่‡ชๅ’ฌ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹X้€ฃ้Ž–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใงใ€ใพใ‚Œใซๅฅณๅ…ใฎ็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200219NANDO:2200586
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_06_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_09_114_01.pdf
rdfs:label - "6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹" - @ja
rdfs:label - "Other Supraventricular tachycardia" - @en
+ rdfs:label + "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_06_008/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3289
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_114/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100048http://nanbyodata.jp/ontology/NANDO_2100168
+ skos:altLabel + "HPRT" + @en
+ skos:altLabel + "Hypoxanthine-guanine phosphoribosyltransferase" + @en
+ skos:altLabel + "Hypoxanthine-guanine phosphoribosyltransferase deficiency" + @en
+ skos:altLabel + "ใƒฌใƒƒใ‚ทใƒฅใƒปใƒŠใ‚คใƒใƒณ็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010298
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016088
skos:prefLabel - "6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹" + "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200220 +
http://nanbyodata.jp/ontology/NANDO_2200587 (rdf:type owl:Class @@ -105959,62 +161288,84 @@

hasNotificationNumber33hasNotificationNumber76
dcterms:description - "ๅทฆ่„šๅพŒๆž้ ˜ๅŸŸใ‚’ๅˆฉ็”จใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผใซใ‚ˆใ‚‹ๅฟƒๅฎค้ ปๆ‹ใ€‚ๅทฆ่„šๅพŒๆž่ฟ‘ๅ‚ใฎ้ƒจไฝใซslow conductionใ‚’่ตทใ“ใ™้ƒจไฝใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅทฆๅฎคๅ†…ใซๅญ˜ๅœจใ™ใ‚‹false tendonใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใฎslow conductionใ‚’ใŠใ“ใ™้ƒจไฝใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ‹ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚’่กŒใ†ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ๅฅๅธธๆˆไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใฎ่ฆณๅฏŸใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(APRT)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚APRTใฏใ€ใ‚ขใƒ‡ใƒ‹ใƒณใจใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒ”ใƒญใƒชใƒณ้…ธใ‚ˆใ‚Šใƒ”ใƒญใƒชใƒณ้…ธใจAMPใ‚’ๅˆๆˆใ™ใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€‚APRTใŒๆฌ ๆใ™ใ‚‹ใจใ€ใ‚ขใƒ‡ใƒ‹ใƒณใฏใ‚ญใ‚ตใƒณใƒใƒณ้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ใซใ‚ˆใ‚Š่‘—ใ—ใๆบถ่งฃๅบฆใŒไฝŽใ่…Žๆฏ’ๆ€งใŒๅผทใ„2,8-ใ‚ธใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใƒ‡ใƒ‹ใƒณ(DHA)ใซใพใงไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚APRTๆฌ ๆ็—‡ใงใฏใ€2,8-DHAใ‚’ๆˆๅˆ†ใจใ™ใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹(ๅ…จๅฐฟ่ทฏ็ต็Ÿณ็—‡ใฎ0.1๏ฝž0.2๏ผ…)ใ€‚ไนณๅนผๅ…ๆœŸใ‚„ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‹ใ‚‰่…Žไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใพใง็—‡็Šถใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200220NANDO:2200587
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_09_115_01.pdf
rdfs:label - "Verapamil sensitive ventricular tachycardia" + "Adenine phosphoribosyltransferase deficiency" @en
rdfs:label - "ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" + "ใ‚ใงใซใ‚“ใปใ™ใปใ‚Šใผใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_009/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8178
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00195
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_115/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100049http://nanbyodata.jp/ontology/NANDO_2100168
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013869
skos:prefLabel - "ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" + "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200221 +
http://nanbyodata.jp/ontology/NANDO_2200588 (rdf:type owl:Class @@ -106022,74 +161373,79 @@

hasNotificationNumber32hasNotificationNumber78
dcterms:description - "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹(catecholaminergic polymorphic ventricular tachycardia: CPVT) ใฏใ€้‹ๅ‹•ใ‚„ๆƒ…ๅ‹•ใฎๅค‰ๅŒ–ใ€ใ‚ใ‚‹ใ„ใฏใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณๆŠ•ไธŽใงใ€ไบŒๆ–นๅ‘ๆ€งใ‚ใ‚‹ใ„ใฏๅคšๅฝขๆ€งใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ€ๅฟƒๅฎค็ดฐๅ‹•ใซ็งป่กŒใ—ใฆๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™่‡ดๆญป็š„ไธๆ•ด่„ˆใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใ€‚ใƒชใ‚ขใƒŽใ‚ธใƒณๅ—ๅฎนไฝ“RyR2 ใ‚„calsequestrin 2 (CASQ2)ใฎ้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅฐ่ƒžไฝ“ใ‹ใ‚‰ๅคง้‡ใฎCa2+ๆ”พๅ‡บใŒใŠใ“ใ‚Šใ€ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใ‚’ๆฉŸๅบใจใ™ใ‚‹ๅฟƒๅฎค้ ปๆ‹ใŒ่ตทใ“ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌๅ‰คๆŠ•ไธŽใ‚’่กŒใชใ‚ใชใ‹ใฃใŸๅ ดๅˆๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚‹ใ€‚่–ฌๅ‰คๆฒป็™‚ใ‚’่กŒใชใฃใฆใ‚‚10ๅนดใง15ใ‹ใ‚‰40%ๆญปไบกใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ใ‚ญใ‚ตใƒณใƒใƒณใ€ใŠใ‚ˆใณใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ๅฐฟ้…ธใธใฎไปฃ่ฌใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ญใ‚ตใƒณใƒใƒณ่„ฑๆฐด็ด ้…ต็ด ๏ผˆXDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ๅฐฟ้…ธ้…ธๆ€งไฝŽไธ‹ใ‹ใ‚‰ใฎไฝŽๅฐฟ้…ธ่ก€็—‡ใ€ๆ™‚ใจใ—ใฆใ‚ญใ‚ตใƒณใƒใƒณ็ต็Ÿณใซใ‚ˆใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚XDHๅ˜็‹ฌๆฌ ๆใฎใ‚ฟใ‚คใƒ—Iใ€ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๏ผˆMoCo๏ผ‰ใฎ็กซ้ป„ไป˜ๅŠ ใฎ้…ต็ด ใงใ‚ใ‚‹MoCo็กซๅŒ–้…ต็ด ๏ผˆMOCOS๏ผ‰ใซใ‚ˆใ‚Šใ€ใใ‚Œใ‚’ๅŸบ่ณชใจใ™ใ‚‹XDHใŠใ‚ˆใณใ‚ขใƒซใƒ‡ใƒ’ใƒ‰้…ธๅŒ–้…ต็ด ๏ผˆAO๏ผ‰ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—IIใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใจใ‚‚ใซๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใŒใ€ๅฐฟ่ทฏ็ต็Ÿณไปฅๅค–ใฎ็—‡็Šถใฏ็‰นใซ่ฆ‹ใ‚‰ใ‚ŒใšไบˆๅพŒ่‰ฏๅฅฝใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200221NANDO:2200588
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_09_116_01.pdf
rdfs:label - "Catecholaminergic polymorphic ventricular tachycardia" + "Xanthinuria" @en
rdfs:label - "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹" + "ใใ•ใ‚“ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_010/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00192
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100049 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_116/
- skos:altLabel - "CPVT" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100168
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017990http://purl.obolibrary.org/obo/MONDO_0000721
skos:prefLabel - "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹" + "ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + "Genetic defects in urate transporters" + @en + "ใซใ‚‡ใ†ใ•ใ‚“ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200222 +
http://nanbyodata.jp/ontology/NANDO_2200589 (rdf:type owl:Class @@ -106097,62 +161453,69 @@

hasNotificationNumber34hasNotificationNumber79
dcterms:description - "ๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Šใ€็จ€ใซๅทฆๅฎคๆตๅ‡บ่ทฏใ‚„ใ€ๅทฆๅ† ๅฐ–ใ€่‚บๅ‹•่„ˆ่ตทๆบใชใฉใŒใ‚ใ‚‹ใ€‚ไปฅไธ‹ใฎๆฉŸๅบใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚โ‘ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆadenosine sensitive VT๏ผ‰้‹ๅ‹•่ช˜็™บๆ€งใฎใ‚‚ใฎใจ๏ผŒๅๅพฉๆ€งใงๆ•ฐๆ‹ใฎๆดž่ชฟๅพ‹ใ‚’ๆŒŸใ‚“ใงไธ€ๆ—ฅไธญ้ ปๆ‹ใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚‚ใฎใจใŒใ‚ใ‚‹๏ผŽๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Š๏ผŒๅทฆๅฎค่ตทๆบใฎใ‚‚ใฎใฏ10%็จ‹ๅบฆใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹๏ผŽcAMPใฎ้–ขไธŽใ™ใ‚‹ๆฟ€็™บๆดปๅ‹•ใจใ•ใ‚Œใฆใ„ใ‚‹๏ผŽใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATP๏ผŒใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ™ใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บ๏ผŒๅœๆญขใŒๅฏ่ƒฝใงใ‚ใ‚Š๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„โ‘กใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆpropranolol sensitive VT๏ผ‰ๅณๅฎค๏ผŒ็จ€ใซๅทฆๅฎค่ตทๆบใงใ‚ใ‚Š๏ผŒใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๆ€ง่‡ชๅ‹•่ƒฝใŒๆฉŸๅบใงใ‚ใ‚‹๏ผŽVTใฏใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ›ใš๏ผŒใจใใซใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATPใงๆŠ‘ๅˆถใ•ใ‚Œ๏ผŒใ‚คใ‚ฝใƒ—ใƒญใƒ†ใƒฌใƒŽใƒผใƒซๆŠ•ไธŽ๏ผŒ้‹ๅ‹•ใง่ช˜็™บใ•ใ‚Œใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บใ‚‚ๅœๆญขใ‚‚ใ•ใ‚Œใš๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„๏ผŽ็ช็„ถๆญปใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใŒใ€็จ€ใซๆตๅ‡บ่ทฏๅž‹ๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’ๅฅ‘ๆฉŸใซๅฟƒๅฎค็ดฐๅ‹•ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" + "ๅฐฟ้…ธใฏใƒ’ใƒˆใงใฎใƒ—ใƒชใƒณไฝ“ไปฃ่ฌใฎๆœ€็ต‚็”ฃ็‰ฉใงใ‚ใ‚Šใ€ไฝ“ๅ†…ใฎๅฐฟ้…ธ้‡ใฏใ€ๅฐฟ้…ธใฎ็”ฃ็”ŸใจๆŽ’ๆณ„ใฎใƒใƒฉใƒณใ‚นใซใ‚ˆใ‚Š่ฆๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธใฏใ€ๅฐฟ้…ธใฎไฝ“ๅค–ใธใฎๆŽ’ๆณ„ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ๅˆ†ๅญใงใ‚ใ‚‹ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ก€ไธญใƒปๅฐฟไธญใฎๅฐฟ้…ธๆฟƒๅบฆ็•ฐๅธธใ‚’ใใŸใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅฐฟ้…ธใฎๅ†ๅธๅŽใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆURAT1ใ€URATv1/GLUT9๏ผ‰ใฎ็•ฐๅธธ๏ผˆ่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™๏ผ‰ใจใ€ๅฐฟ้…ธใฎๅˆ†ๆณŒใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆNPT4ใ€ABCG2/BCRP๏ผ‰ใฎ็•ฐๅธธ๏ผˆ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹๏ผ‰ใŒใจใ‚‚ใซ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใฎ็ด„10%ใŒๅฐฟ้…ธ็ต็Ÿณใ‚„้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใ‚’ๅ‘ˆใ—ใ€้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใฎ20~30%ใฏๅ†็™บใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฏๅฐฟ้…ธ็ต็Ÿณใ‚„็—›้ขจใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚" @ja
dcterms:identifier2200222NANDO:2200589
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_09_117_01.pdf
rdfs:label - "9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹" - @ja
rdfs:label - "Other Ventricular tachycardia" - @en
+ rdfs:label + "ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_011/https://www.shouman.jp/disease/details/08_09_117/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100049http://nanbyodata.jp/ontology/NANDO_2100168
skos:prefLabel - "9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹" + "ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200223 +
http://nanbyodata.jp/ontology/NANDO_2200590 (rdf:type owl:Class @@ -106160,55 +161523,84 @@

hasNotificationNumber34hasNotificationNumber77
+ dcterms:description + "ใƒ”ใƒชใƒŸใ‚ธใƒณๅˆๆˆ็ณปใซใ‘ใ‚‹ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ‚ชใƒญใƒƒใƒˆ้…ธใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใจใ‚ชใƒญใƒใ‚ธใƒณ๏ผ•โ€ฒ-ใƒชใƒณ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ใฎไธกๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๅฐฟไธญใ‚ชใƒญใƒˆ้…ธใฎๅข—ๅŠ ใ€ๅฐฟไธญใ‚ชใƒญใƒใ‚ธใƒณใฎๅข—ๅŠ ใ€ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธใฎ็”ฃ็”ŸไฝŽไธ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹1)ใ€‚" + @ja
dcterms:identifier2200223NANDO:2200590
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_09_118_01.pdf
rdfs:label - "adenosine sensitive VT" + "Orotic aciduria" @en
rdfs:label - "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" + "ใŠใ‚ใจใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_011/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2784
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00198
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_118/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200222http://nanbyodata.jp/ontology/NANDO_2100168
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009797
skos:prefLabel - "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" + "ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡" @ja
- - + - - + + + + + + - + - + + "114ใ‹ใ‚‰118ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใทใ‚Šใ‚“ใดใ‚Šใฟใ˜ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200224 +
http://nanbyodata.jp/ontology/NANDO_2200591 (rdf:type owl:Class @@ -106216,55 +161608,69 @@

hasNotificationNumber34hasNotificationNumber81
+ dcterms:description + "DNAใ‚„RNAใฎๆง‹ๆˆ็‰ฉ่ณชใงใ‚ใ‚‹ใƒ—ใƒชใƒณไฝ“ใจใƒ”ใƒชใƒŸใ‚ธใƒณไฝ“ใฎๅˆๆˆใ‚„่งฃใซใฏใ€็จฎใ€…ใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใŠใ‚Šใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ ธ้…ธไปฃ่ฌใ‚„ใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใจๅฏ†ๆŽฅใซ้–ข้€ฃใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใฃใฆใ€้šœๅฎณใ•ใ‚ŒใŸ้…ต็ด ใซใ‚ˆใฃใฆ็—‡็Šถใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹114ใ€œ118ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200224NANDO:2200591
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_07_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_09_119_01.pdf
rdfs:label - "propranolol sensitive VT" - @en
rdfs:label - "ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" + "114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorders of purine and pyrimidine metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_07_011/https://www.shouman.jp/disease/details/08_09_119/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200222http://nanbyodata.jp/ontology/NANDO_2100168
skos:prefLabel - "ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹" + "114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200225 +
http://nanbyodata.jp/ontology/NANDO_2200592 (rdf:type owl:Class @@ -106272,67 +161678,84 @@

hasNotificationNumber47hasNotificationNumber74
dcterms:description - "ๅฟƒๆˆฟๅ†…ใฎใƒžใ‚ฏใƒญใƒชใ‚จใƒณใƒˆใƒชใƒผใงใ‚ใ‚Šใ€้€šๅธธๅž‹ใงใฏไธ‰ๅฐ–ๅผๅ‘จๅ›ฒใ‚’ๅๆ™‚่จˆๅ›ž่ปขๆ–นๅ‘ใ‚‚ใ—ใใฏๅๆ™‚่จˆๆ–นๅ‘ใซ๏ผŒ้ž้€šๅธธๅž‹ใงใฏใใ‚Œไปฅๅค–ใฎๅ›ž่ทฏใ‚’ๅˆฉ็”จใ™ใ‚‹๏ผŽ้€šๅธธๅž‹ใฏไธŠๅคง้™่„ˆ๏ผŒๅˆ†็•Œ็จœใ€ไธ‹ๅคง้™่„ˆใ€Eustachianๅผใ€ๅ† ้™่„ˆๆดžใŒ่งฃๅ‰–ๅญฆ็š„้šœๅฃใจใชใ‚Šใ€ใใฎๅค–ๅดใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใจใชใ‚‹๏ผŽ็ทฉๅพไผๅฐŽใฏใชใ„ใŒ๏ผŒไธ‹ๅคง้™่„ˆโ”€ไธ‰ๅฐ–ๅผ่ผชๅณฝ้ƒจ(cavo-tricuspid isthmus: CTI)ใŒๅ…ฑ้€šใฎๅ›ž่ทฏใงใ‚ใ‚‹๏ผŽๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„ไพ‹ใฎ็™บ็”Ÿ้ ปๅบฆใฏๆฅตใ‚ใฆๅฐ‘ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ้™ๅฎšใ—ใฆ่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚1๏ผš1ๆˆฟๅฎคไผๅฐŽใ‚’ใใŸใ™ใจๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚้•ทๆœŸใซๅฟƒๆˆฟ็ฒ—ๅ‹•ใŒ็ถšใใจใ€ๅฟƒ็ญ‹็—‡๏ผˆๅฟƒๆฉŸ่ƒฝไธๅ…จ๏ผ‰ใ€่ก€ๆ “ใ€ๅกžๆ “็—‡ใฎๅŽŸๅ› ใจใชใ‚Šใ†ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡(HFM)ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹PCFT (proton-coupled folate transporter)ใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200225NANDO:2200592
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_08_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_10_120_01.pdf
rdfs:label - "Atrial flutter" + "Hereditary folate malabsorption" @en
rdfs:label - "ๅฟƒๆˆฟ็ฒ—ๅ‹•" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ˆใ†ใ•ใ‚“ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_08_012/http://nanbyodata.jp/ontology/NANDO_1200810
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2227
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_10_120/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100050http://nanbyodata.jp/ontology/NANDO_2100169
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005310http://purl.obolibrary.org/obo/MONDO_0009238
skos:prefLabel - "ๅฟƒๆˆฟ็ฒ—ๅ‹•" + "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡" @ja
- - + - - + + - + - + + "120ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใณใŸใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200226 +
http://nanbyodata.jp/ontology/NANDO_2200593 (rdf:type owl:Class @@ -106340,72 +161763,69 @@

hasNotificationNumber46hasNotificationNumber75
dcterms:description - "ๅฟƒๆˆฟใŒ็„ก็งฉๅบ้ซ˜้ ปๅบฆใซ่ˆˆๅฅฎใ™ใ‚‹ไธๆ•ด่„ˆใงใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใชใฉๅฟƒๆˆฟ็ญ‹ใซ่ฒ ๆ‹…ใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚ๅฐๅ…ใ‚„่‹ฅๅนด่€…ใซใŠใ„ใฆๅŸบ็คŽๅฟƒ็–พๆ‚ฃใฎใชใ„ๅญค็ซ‹ๆ€งๅฟƒๆˆฟ็ดฐๅ‹•ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๆดž่ชฟๅพ‹ใซๆˆปใ‚‰ใชใ‘ใ‚Œใฐ็›ดๆต้€š้›ปใ™ใ‚‹ใ€‚้ ปๅ›žใฎๅ ดๅˆใ‚„ๆŒ็ถšๆ€งใฎใ‚‚ใฎใฏ่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใฃใฆ่ฆๅฎšใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งใฎใ‚‚ใฎใฏใ€่ก€ๆ “ๅกžๆ “็—‡ใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + "้บไผ็š„ใช็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใฆใ€่…ธ็ฎกใ‹ใ‚‰ใฎใƒ“ใ‚ฟใƒŸใƒณ้กžใฎๅธๅŽไธๅ…จใ‚„่ปข้€้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹120ใฎๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200226NANDO:2200593
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_09_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_10_121_01.pdf
rdfs:label - "Atrial fibrillation" - @en
rdfs:label - "ๅฟƒๆˆฟ็ดฐๅ‹•" + "120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00731 + rdfs:label + "Other disorders of vitamin metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_09_013/https://www.shouman.jp/disease/details/08_10_121/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100051
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004981http://nanbyodata.jp/ontology/NANDO_2100169
skos:prefLabel - "ๅฟƒๆˆฟ็ดฐๅ‹•" + "120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + + "ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200227 +
http://nanbyodata.jp/ontology/NANDO_2200594 (rdf:type owl:Class @@ -106413,67 +161833,91 @@

hasNotificationNumber30hasNotificationNumber54
dcterms:description - "ๅฟƒๅฎคใŒ็„ก็งฉๅบใซ่ˆˆๅฅฎใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ€ๅฟƒ้›ปๅ›ณใงใฏๅŸบ็ทšใฎ็ดฐใ‹ใ„ๆบใ‚Œใจใ—ใฆ่จ˜้Œฒใ•ใ‚Œใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚Œใฐๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใซใฏQTๅปถ้•ท็—‡ๅ€™็พคใ€Brugada็—‡ๅ€™็พคใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€QT็Ÿญ็ธฎ็—‡ๅ€™็พคใ‚‚ๅซใ‚ใ‚‹ใŒใ€็‰น็™บๆ€งๅฟƒๅฎค็ดฐๅ‹•ใฏใ“ใ‚Œใ‚‰ใ‚’้™คใ„ใŸๅฟƒๅฎค็ดฐๅ‹•ใงใ€่ฟ‘ๅนดๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€Jๆณข็—‡ๅ€™็พค๏ผˆๆ—ฉๆœŸๅ†ๅˆ†ๆฅต็—‡ๅ€™็พค๏ผ‰ใŒใใฎ็ฏ„็–‡ใซๅ…ฅใ‚‹ใ€‚้ ปๆ‹ใฎไบˆ้˜ฒใฏใ‚ขใƒŸใ‚ชใƒ€ใƒญใƒณๅ†…ๆœใ€ๅŠใณICDๆค่พผใฟใงใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€ใฏใฃใใ‚Šใ—ใŸไบˆๅพŒใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚" + "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€3็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธใ€”ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ€ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆTrp๏ผ‰ใ€•ๆฐด้…ธๅŒ–้…ต็ด ใซๅ…ฑ้€šใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชไปฃ่ฌ็•ฐๅธธใซใ‚ˆใ‚ŠBH4ใฎๆฌ ไนใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹1๏ผ‰ใ€‚ไธ€่ˆฌใซใฏ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆ้ซ˜Phe่ก€็—‡๏ผ‰ใ‚’ไผดใ†ใ‚‚ใฎใ‚’ใ•ใ—ใฆใ„ใ†ใŒใ€ๅบƒ็พฉใซใฏ้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚‚ๅซใพใ‚Œใ‚‹๏ผ’๏ผ‰ใ€‚ๅ‰่€…ใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใจ็•ฐใชใ‚Šใ€ไฝŽใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ้ฃŸใซใ‚ˆใ‚‹่ก€ๆธ…Pheๅ€คใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€้‡็—‡ใง้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็—‡็ŠถใŒ็™บ็—‡ใ™ใ‚‹ใŒใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ—ใ€็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๅพŒ่€…ใฏ็€ฌๅท็—…ใจใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใง้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ—ใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใŸใ‚ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200227NANDO:2200594
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_10_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_11_122_01.pdf
rdfs:label - "Ventricular fibrillation" + "BH4ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Tetrahydrobiopterin deficiency" @en
rdfs:label - "ๅฟƒๅฎค็ดฐๅ‹•" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_10_014/http://nanbyodata.jp/ontology/NANDO_1200786
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201076
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_122/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100052http://nanbyodata.jp/ontology/NANDO_2100170
+ skos:altLabel + "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000190http://purl.obolibrary.org/obo/MONDO_0016543
skos:prefLabel - "ๅฟƒๅฎค็ดฐๅ‹•" + "BH4ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200228 +
http://nanbyodata.jp/ontology/NANDO_2200595 (rdf:type owl:Class @@ -106481,74 +161925,74 @@

hasNotificationNumber14hasNotificationNumber52
dcterms:description - "QTๆ™‚้–“ใŒๅปถ้•ทใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€torsade de pointesใจๅ‘ผใฐใ‚Œใ‚‹ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€ๅฟƒๅฎค็ดฐๅ‹•ใชใฉใŒ่ช˜็™บใ•ใ‚Œใ€็ช็„ถๆญปใฎๅฑ้™บใฎใ‚ใ‚‹ๅฟƒ้›ปๅ›ณ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎRomano-Ward็—‡ๅ€™็พคใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎJervel-Lange-Nielsen็—‡ๅ€™็พคใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œ13็จฎ้กžใ€3็จฎ้กžใฎ้บไผๅญ็•ฐๅธธใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ‰็—‡็Šถไพ‹ใ‚„ใƒใ‚คใƒชใ‚นใ‚ฏไพ‹ใงใฏๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚" + "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆTH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใ‚’L-ใƒ‰ใƒผใƒ‘ใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใชใฉใฎใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณใฎๅ…จ่ˆฌใฎๅˆๆˆใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚่„ณๅ†…ใงใฏ้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใŒ็™บ็—‡ใ—ใ€L-DOPAใซๅๅฟœใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใŒใ€้€ฒ่กŒๆ€งใฎ่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒไธปไฝ“ใ‚’ๅ ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200228NANDO:2200595
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_11_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_11_123_01.pdf
rdfs:label - "Long qt syndrome" + "Tyrosine hydroxylase deficiency" @en
rdfs:label - "QTๅปถ้•ท็—‡ๅ€™็พค" + "ใกใ‚ใ—ใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_11_015/https://www.shouman.jp/disease/details/08_11_123/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100053
- skos:altLabel - "LQTS" - @enhttp://nanbyodata.jp/ontology/NANDO_2100170
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002442http://purl.obolibrary.org/obo/MONDO_0100064
skos:prefLabel - "QTๅปถ้•ท็—‡ๅ€™็พค" + "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200229 +
http://nanbyodata.jp/ontology/NANDO_2200596 (rdf:type owl:Class @@ -106556,72 +162000,84 @@

hasNotificationNumber88hasNotificationNumber55
dcterms:description - "ๆ˜Žใ‚‰ใ‹ใชๅฟƒ่‚ฅๅคงใ‚’ใใŸใ™ๅŽŸๅ› ็„กใๅฟƒๅฎคๅฃใฎ่‚ฅๅŽšใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅŽšใ‚’็คบใ™ใ€‚ๅทฆๅฎคใฎๆ‹กๅผตใฏใชใใ€ๅทฆๅฎคๅŽ็ธฎใฏๆญฃๅธธใ‹ไบข้€ฒใ—ใฆใ„ใ‚‹ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ้Œฏ็ถœ้…ๅˆ—ใ‚’ใจใ‚‚ใชใ†่‚ฅๅคงใ‚’็คบใ™ใ€‚ๅทฆๅฎคๆตๅ‡บ่ทฏใฎ็ญ‹่‚‰ใŒ่‚ฅๅŽšใ™ใ‚Œใฐใ€่‚ฅๅคงๅž‹้–‰ๅกžๆ€งๅฟƒ็ญ‹็—‡ใฎๅž‹ใจใชใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ๅทฆๅฎคๆ‹กๅผต้šœๅฎณใซใ‚ˆใ‚‹ๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใธใฎ็งป่กŒใซใ‚ˆใ‚‹ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "AADCๆฌ ๆ็—‡ใฏ๏ผฌ-ใƒ‰ใƒผใƒ‘ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณ๏ผˆ5HT๏ผ‰ใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ้บไผๅญ๏ผˆDDC๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1990ๅนดใ‚คใ‚ฎใƒชใ‚นใฎHylandใ‚‰ใซใ‚ˆใฃใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ1๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžใŠใ‚ˆใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎHVAใŠใ‚ˆใณ๏ผ•HIAAใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎใชใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚" @ja
dcterms:identifier2200229NANDO:2200596
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_12_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_11_124_01.pdf
rdfs:label - "Hypertrophic cardiomyopathy" + "Aromatic L-amino acid decarboxylase deficiency" @en
rdfs:label - "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "ใปใ†ใ“ใ†ใžใใˆใ‚‹ใ‚ใฟใฎใ•ใ‚“ใ ใคใŸใ‚“ใ•ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00292http://nanbyodata.jp/ontology/NANDO_1200988
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_12_016/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6353
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_124/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100054http://nanbyodata.jp/ontology/NANDO_2100170
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005045http://purl.obolibrary.org/obo/MONDO_0012084
skos:prefLabel - "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200230 +
http://nanbyodata.jp/ontology/NANDO_2200597 (rdf:type owl:Class @@ -106629,67 +162085,79 @@

hasNotificationNumber91hasNotificationNumber53
dcterms:description - "ๅŽŸๅ› ไธๆ˜Žใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅค‰ๆ€งใ€่„‚่‚ชๆตธๆฝคใ€็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ๅณๅฎคใฎๆ‹กๅคงใ‚„ๅŽ็ธฎไธๅ…จใ€ๅณๅฎค่ตทๆบใฎๅฟƒๅฎคๆ€งไธๆ•ด่„ˆใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธๆ•ด่„ˆใจๅฟƒไธๅ…จใซๅฏพใ™ใ‚‹ๆฒป็™‚ใ‚’ใŠใ“ใชใ†ใ€‚ๆŒ็ถšๆ€งๅฟƒๅฎค้ ปๆ‹ใ‚„ๅฟƒๅฎค็ดฐๅ‹•ใชใฉไธๆ•ด่„ˆใซๅฏพใ™ใ‚‹ๆฒป็™‚ใฏใ€่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆคใˆ่พผใฟๅž‹้™ค็ดฐๅ‹•ๅ™จ๏ผˆICD๏ผ‰,ใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งๅฟƒไธๅ…จ็—‡็Šถใซๅฏพใ—ใฆใฏใ€ๆŠ—ๅฟƒไธๅ…จ่–ฌ็‰ฉ็™‚ๆณ•ใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใซๅๅฟœใ—ใชใ„ๅ ดๅˆใซใฏใ€ๅฟƒ่‡“็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" + "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒๆฐด้…ธๅŒ–้…ต็ด ๏ผˆDBH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ‚’ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ไบคๆ„Ÿ็ฅž็ตŒNAไฝœๅ‹•ๆ€งๆฉŸ่ƒฝใฎๆฌ ๅฆ‚ใซใ‚ˆใ‚Š่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹้žๅธธใซใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซๅฟƒ่ก€็ฎก็–พๆ‚ฃใ€้‡ๅบฆใฎ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎ็•ฐๅธธใฏๅ‘จ็”ฃๆœŸใ‹ใ‚‰ๅง‹ใพใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใงใฏNAใ€ใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใฎไธก่€…ใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ไฝŽไฝ“ๆธฉใ€ไฝŽ่ก€ๅœงใ€ไฝŽ่ก€็ณ–ใชใฉ่ค‡้›‘ใช่‡ช็ซ‹็ฅž็ตŒ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200230NANDO:2200597
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_13_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_11_125_01.pdf
rdfs:label - "Arrhythmogenic right ventricular cardiomyopathy or dysplasia" + "Dopamine beta hydroxylase deficiency" @en
rdfs:label - "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" + "ใฉใƒผใฑใฟใ‚“ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00293http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2108
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_13_017/https://www.shouman.jp/disease/details/08_11_125/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100055http://nanbyodata.jp/ontology/NANDO_2100170
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009123
skos:prefLabel - "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡" + "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใŽใ‚ƒใฐใ‚ใฟใฎใใฆใ‚“ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200231 +
http://nanbyodata.jp/ontology/NANDO_2200598 (rdf:type owl:Class @@ -106697,62 +162165,79 @@

hasNotificationNumber29hasNotificationNumber50
dcterms:description - "่ƒŽ็”ŸๆœŸใซใฏใ€ๅทฆๅฎคๅ†…่†œๅดๅฟƒ็ญ‹ๅฑคใฏใ€็ฒ—ใช้–“้š™ใŒ็ถฒ็›ฎ็Šถใซไนฑใ‚ŒใŸ่ตฐ่กŒใ‚’ใ—ใฆใŠใ‚Šใ€ใ“ใ‚ŒใŒ็™บ่‚ฒใจใจใ‚‚ใซๅฏ†ใจใชใฃใฆๅ†…่…”้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆ…‹ใ‚‚ๆถˆๅคฑใ—ใฆใ€่‚‰ๆŸฑใฏๆต…ใ็ดฐใ‹ใใชใฃใฆใ„ใใ€‚ๅฟƒๅฎค็‰นใซๅทฆๅฎคใฎๅฟƒ็ญ‹ใŒๅ…จๅฑคใซใ‚ใŸใฃใฆ็ทปๅฏ†ใช็Šถๆ…‹ใซๆˆ็†Ÿใ›ใšใ€้–“้š™ใŒๅคšใใชใฃใฆใ„ใ‚‹็Šถๆ…‹ใ‚’็ทปๅฏ†ๅŒ–้šœๅฎณใจใ„ใ†ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผๆณ•ใ€MRIใพใŸใฏๅทฆๅฎค้€ ๅฝฑๆณ•ใซใ‚ˆใฃใฆๅทฆๅฎคๅ†…้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆˆใจใใฎ้–“ใฎๆทฑใ„้™ฅๅ‡นใ‚’ใฟใจใ‚, ใใฎๅฟƒๅค–่†œๅดใซใ€็ทปๅฏ†ๅŒ–้šœๅฎณๅฑคใ‚ˆใ‚Š่–„ใ„็ทปๅฏ†ๅŒ–ๅฑคใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎใ“ใจใŒใ‚ใ‚Šใ€่‡จๅบŠ็š„ใซใฏๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ใจใ‚‹ใ€‚" + "่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎไปฃ่ฌใซใ‹ใ‹ใ‚ใ‚‹GABAใƒˆใƒฉใƒณใ‚นใ‚ขใƒŸใƒŠใƒผใ‚ผ๏ผˆGABAT๏ผ‰ใฎๆฌ ๆ็—‡ใฏใ€้‡็—‡ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใจ็™บ้”้…ๅปถใ‚’่ชใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใใ‚ใ‚ใฆใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ใ‚ใŒๅ›ฝใฎ๏ผ‘ไพ‹ใ‚’ๅซใ‚€ไธ–็•Œใง๏ผ“ๅฎถ็ณป4ไพ‹ใ—ใ‹ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier2200231NANDO:2200598
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_14_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_11_126_01.pdf
rdfs:label - "Non-compaction of the ventricle" + "GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Gamma-amino butyrate aminotransferase deficiency" @en
rdfs:label - "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_14_018/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7368
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_126/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100056http://nanbyodata.jp/ontology/NANDO_2100170
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013166
skos:prefLabel - "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ" + "GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200232 +
http://nanbyodata.jp/ontology/NANDO_2200599 (rdf:type owl:Class @@ -106760,72 +162245,84 @@

hasNotificationNumber4hasNotificationNumber51
dcterms:description - "ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒ็„กใๅทฆๅฎคใ€ใพใŸใฏไธกๅฟƒๅฎคใŒๆ‹กๅผตใ—ใ€ๅŽ็ธฎ่ƒฝใŒไฝŽไธ‹ใ—ใฆใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎๅค‰ๆ€งใ€็ทš็ถญๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚" + "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๏ผˆSSADH๏ผ‰ๆฌ ๆ็—‡ใฏ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ไผดใ†ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚SSADHใฎๆฌ ๆใงGABAใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰๏ผˆSSA๏ผ‰ใŒใ‚ณใƒใ‚ฏ้…ธใซๅค‰ๆ›ใ•ใ‚Œใชใ„ใŸใ‚ใ€SSAใฎๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚‹ใŒใ€SSAใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท้…ช้…ธ๏ผˆGHB๏ผ‰ใซไปฃ่ฌใ•ใ‚ŒๅฐฟไธญใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใŸใ‚GHBๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚GHBๅฐฟ็—‡ใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ž็‰น็•ฐ็š„ใช็ฅž็ตŒ็—‡็ŠถใŒๅคšใ„ใŸใ‚ใ€ๅฎŸ้š›ใซใฏๆญฃ็ขบใช่จบๆ–ญใ‚’ๅ—ใ‘ใฆใ„ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200232NANDO:2200599
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_15_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_11_127_01.pdf
rdfs:label - "Dilated cardiomyopathy" + "Succinic semialdehyde dehydrogenase deficiency" @en
rdfs:label - "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + "ใ“ใฏใใ•ใ‚“ใ›ใฟใ‚ใ‚‹ใงใฒใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00294http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3066
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_15_019/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00835
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_127/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100057http://nanbyodata.jp/ontology/NANDO_2100170
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005021http://purl.obolibrary.org/obo/MONDO_0010083
skos:prefLabel - "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡" + "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "122ใ‹ใ‚‰127ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ‚“ใ‘ใ„ใงใ‚“ใŸใคใถใฃใ—ใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200233 +
http://nanbyodata.jp/ontology/NANDO_2200600 (rdf:type owl:Class @@ -106833,62 +162330,69 @@

hasNotificationNumber20hasNotificationNumber56
dcterms:description - "ๅทฆๅฎคใฎๆ‹กๅผต้šœๅฎณใ‚’่ชใ‚ใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ๅทฆๅฎคใฎๅŽ็ธฎ่ƒฝใฏใปใผไฟใŸใ‚Œใ€ๅทฆๅฎคๆ‹กๅคงใฏใชใ„ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ่‚ฅๅคงใ€็ทš็ถญๅŒ–ใชใฉ้ž็‰น็•ฐ็š„ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ใ„ใฃใŸใ‚“ๆœ‰็—‡็Šถใซใชใ‚‹ใจ็—…ๆ…‹ๆ‚ชๅŒ–ใฎ้€ฒ่กŒใฏ้€Ÿใใ€ๅฟƒ็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" + "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ใฏใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็”Ÿๅˆๆˆใƒปไปฃ่ฌใƒป็•ฐๅŒ–ใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใ‹ใ‚‰ไนณๅนผๅ…ๆœŸใฎใ€็ฅž็ตŒ็ดฐ่ƒžใŒๅˆ†ๅŒ–ใ—ใฆใƒใƒƒใƒˆใƒฏใƒผใ‚ฏใ‚’ๅฝขๆˆใ—ใฆใ„ใๆ™‚ๆœŸใซ็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ€็ฅž็ตŒ็™บ้”ใซ้‡ๅคงใช็•ฐๅธธใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹122ใ€œ127ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎไปฃ่ฌใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ฅž็ตŒ็™บ้”ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200233NANDO:2200600
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_16_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_11_128_01.pdf
rdfs:label - "Restricted cardiomyopathy" - @en
rdfs:label - "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorder of neurotransmitter metabolism and transport" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_16_020/https://www.shouman.jp/disease/details/08_11_128/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100058http://nanbyodata.jp/ontology/NANDO_2100170
skos:prefLabel - "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡" + "122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200234 +
http://nanbyodata.jp/ontology/NANDO_2200601 (rdf:type owl:Class @@ -106896,69 +162400,86 @@

hasNotificationNumber35hasNotificationNumber36
dcterms:description - "ๅ…ˆๅคฉๆ€งใพใŸใฏๅพŒๅคฉๆ€งใซๅฟƒๅฎคใซใงใใŸๆ†ฉๅฎค็”จใฎ่†จ้š†ใ€‚่†จ้š†้ƒจใฎๅฃใฏๅฟƒๅ†…่†œใ€ๅฟƒ็ญ‹ใ€ๅฟƒๅค–่†œใฎ๏ผ“ๅฑคๆง‹้€ ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€็ทš็ถญๅŒ–็ต„็น”ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏๅ‰่€…ใŒๅคšใใ€ๅฟƒ็ญ‹ๆข—ๅกžๅพŒใฎๅฟƒ็ญ‹ๅฃŠๆญปใซ่ตทๅ› ใ™ใ‚‹ใจใใฏใ€ๅพŒ่€…ใŒๅคšใ„ใ€‚็ ด่ฃ‚ใฎใƒชใ‚นใ‚ฏใŒใ‚ใ‚Šใ€ๅณๅฎคๆ†ฉๅฎคใฏๆ‰‹่ก“้ฉๅฟœใŒใ‚ใ‚Œใฐๆ‰‹่ก“ใ€ๅทฆๅฎค็˜คใฏๆ‰‹่ก“ๅ›ฐ้›ฃใง้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคๅˆ‡้™คๅพŒใซ็ธซๅˆ้ƒจ็˜ข็—•ใ‹ใ‚‰ไธๆ•ด่„ˆใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคใฎ้Žๅˆ‡้™คใงๅฟƒไธๅ…จใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็”Ÿๆถฏใฎ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ไบˆๅพŒใฏไธๆ˜Žใ€‚" + "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎ็•ฐๅŒ–้šœๅฎณใซใ‚ˆใ‚Š้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰๏ผˆTG๏ผ‰่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็šฎ่†š็™บ็–นๆ€ง้ป„่‰ฒ่…ซใ‚„ๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผฃIIๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€งVๅž‹้ซ˜่„‚่ก€็—‡ใ€ใใฎไป–ใฎ้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŒ๏ผ’๏ผ‰" @ja
dcterms:identifier2200234NANDO:2200601
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_17_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_129_01.pdf
rdfs:label - "Aneurysm of ventricle" + "Primary hyperchylomicronemia" @en
rdfs:label - "ๅฟƒๅฎค็˜ค" + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ„ใ‚ใฟใใ‚ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_17_021/http://nanbyodata.jp/ontology/NANDO_1200855
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_129/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100059http://nanbyodata.jp/ontology/NANDO_2100171
skos:altLabel - "diverticulum of ventricle" + "Primary hyperchylomicronaemia" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018637
skos:prefLabel - "ๅฟƒๅฎค็˜ค" + "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200235 +
http://nanbyodata.jp/ontology/NANDO_2200602 (rdf:type owl:Class @@ -106966,72 +162487,108 @@

hasNotificationNumber45hasNotificationNumber34
dcterms:description - "๏ผ‘ใคใ‚ใ‚‹ใ„ใฏใใ‚ŒไปฅไธŠใฎๅฟƒๅฎคใชใ‚‰ใณใซๅฟƒๆˆฟใซใ€่† ๅŽŸ็ทš็ถญใŠใ‚ˆใณๅผพๆ€ง็นŠ็ถญใฎๅข—็”ŸใซๅŸบใฅใๅฟƒๅ†…่†œใฎ่‚ฅๅŽšใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใ€‚็ขบๅฎš่จบๆ–ญใฏใ€็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใงใ€ใณใพใ‚“ๆ€งใซๅฟƒๅ†…่†œ่‚ฅๅŽšใ‚’่ชใ‚ใ‚‹ใ€‚้ซ˜ๅบฆใฎๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆธ›ๅฐ‘ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆFH๏ผ‰ใฏใ€ไฝŽๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆLDL๏ผ‰ๅ—ๅฎนไฝ“ใพใŸใฏ้–ข้€ฃใ™ใ‚‹้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚FHใงใฏLDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่ก€ไธญใƒฌใƒ™ใƒซใŒใใ‚ใ‚ใฆ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ๅ‹•่„ˆ็กฌๅŒ–ใฎ้žๅธธใซ้ซ˜ใ„ใƒชใ‚นใ‚ฏใจใชใ‚‹ใ€‚่‹ฅๅนดใง็‹ญๅฟƒ็—‡ใ‚„ๅฟƒ็ญ‹ๆข—ๅกžใ‚’็™บ็—‡ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚" @ja
dcterms:identifier2200235NANDO:2200602
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_18_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_130_01.pdf
rdfs:label - "Endocardial fibroelastosis" + "Familial hypercholesterolemia" @en
rdfs:label - "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" + "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2155http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=743
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_18_022/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00155
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_130/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100060http://nanbyodata.jp/ontology/NANDO_2100171
+ skos:altLabel + "FH" + @en
+ skos:altLabel + "Familial hypercholesterolaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009169http://purl.obolibrary.org/obo/MONDO_0005439
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007750
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016525
skos:prefLabel - "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡" + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200236 +
http://nanbyodata.jp/ontology/NANDO_2200603 (rdf:type owl:Class @@ -107039,72 +162596,88 @@

hasNotificationNumber36hasNotificationNumber35
dcterms:description - "ๅฟƒๆˆฟใ€ๅฟƒๅฎคใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ€‚่‰ฏๆ€งใŒๅคšใใ€ๆ‚ชๆ€งใฏๅฐ‘ใชใ„ใŒ๏ผˆ10๏ผ…๏ผ‰ใ€่‰ฏๆ€งใงใ‚‚ๅฟƒๆฉŸ่ƒฝใซๆ‚ชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆจช็ด‹็ญ‹็จฎใ€็ทš็ถญ่…ซใ€็ฒ˜ๆถฒ่…ซใ€ๅฅ‡ๅฝข่…ซใ€่„‚่‚ช่…ซใ€่‚‰่…ซใชใฉใŒใ‚ใ‚‹ใ€‚ๆจช็ด‹็ญ‹็จฎใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ๅณๅฎคใ€ๅทฆๅฎคใซๅคš็™บๆ€งใฎใ“ใจใŒๅคšใ„ใ€‚็ทš็ถญ่…ซใฏใ€ๅณๅฎคใ€ๅทฆๅฎคใซ็™บ็”Ÿใ—ใ€็ช็„ถๆญปใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚็ฒ˜ๆถฒ่…ซใฏๅฟƒๆˆฟใซ็™บ็”Ÿใ—ใ€็Ÿญ่ŒŽใ‚’ๆœ‰ใ—ใฆๅฟƒๆˆฟๅ†…ใซ็ชๅ‡บใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆ‘˜ๅ‡บๅฏ่ƒฝใช้ƒจไฝใ€ๅคงใใ•ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใฆใ‚‚ๆ‰‹่ก“ใŒใงใใชใ„ไพ‹ใงใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡๏ผˆFCHL๏ผ‰ใฏใ€่ก€ไธญ็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆTC๏ผ‰ใจTGใฎไธกๆ–นใŒ้ซ˜ๅ€คใจใชใ‚‹็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใจใ•ใ‚Œใฆใ„ใ‚‹ใŒ่ค‡ๆ•ฐใฎ้บไผๅญ็•ฐๅธธใŒใ‹ใ‹ใ‚ใฃใฆใ„ใ‚‹ใ€‚่‹ฅๅนดใงใฎๅฟƒ็ญ‹ๆข—ๅกžใฎ็™บ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€65ๆญณไปฅไธ‹ใฎๅฟƒ็ญ‹ๆข—ๅกžๆ‚ฃ่€…ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆ30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹๏ผ‘๏ผŒ๏ผ’๏ผ‰ใ€‚" @ja
dcterms:identifier2200236NANDO:2200603
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_19_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_131_01.pdf
rdfs:label - "Cardiac tumor" + "Familial combined hyperlipidemia" @en
rdfs:label - "ๅฟƒ่‡“่…ซ็˜" + "ใ‹ใžใใ›ใ„ใตใใ”ใ†ใŒใŸใ“ใ†ใ—ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_19_023/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00153
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_131/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100061http://nanbyodata.jp/ontology/NANDO_2100171
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001340 + skos:altLabel + "FCHL" + @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021209 + skos:altLabel + "Familial combined hyperlipidaemia" + @en
skos:prefLabel - "ๅฟƒ่‡“่…ซ็˜" + "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200237 +
http://nanbyodata.jp/ontology/NANDO_2200604 (rdf:type owl:Class @@ -107112,62 +162685,91 @@

hasNotificationNumber92hasNotificationNumber38
dcterms:description - "ๆ•ฐใƒถๆœˆไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅฟƒ็ญ‹็‚Žใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’่ชใ‚ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ๅž‹ใจใ€ๆ€ฅๆ€งๅฟƒ็ญ‹็‚ŽใŒ้ทๅปถใ™ใ‚‹ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ใƒชใƒ่›‹็™ฝ็ฒ’ๅญๅฝขๆˆใซ้–ขไธŽใ™ใ‚‹ใƒŸใ‚ฏใƒญใ‚ฝใƒผใƒ ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ปข้€่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่…ธใงๅธๅŽใ•ใ‚ŒใŸ้ฃŸไบ‹ๆ€ง่„‚่‚ชใฏใƒชใƒ่›‹็™ฝใจใ—ใฆ่ปข้€ใ•ใ‚Œใšใซ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใ€่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚‹ไธ‹็—ขใ€่„‚่‚ชไพฟใจใชใ‚Š่…น็—›ใ€ๆˆ้•ท้šœๅฎณใชใฉใ‚’ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹็ฅž็ตŒ็—‡็Šถใ€็™บ้”้…ๆปžใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸ่„‚่‚ชใ‚‚ๅ…จ่บซใซ่ปข้€ใ•ใ‚Œใ‚‹ใ“ใจใชใ่„‚่‚ช่‚ใจใชใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚" @ja
dcterms:identifier2200237NANDO:2200604
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_20_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_132_01.pdf
rdfs:label - "Chronic myocarditis" + "Abetalipoproteinemia" @en
rdfs:label - "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" + "ใ‚€ในใƒผใŸใ‚ŠใฝใŸใ‚“ใฑใใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_20_024/http://nanbyodata.jp/ontology/NANDO_1200857
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1660
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_132/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100062http://nanbyodata.jp/ontology/NANDO_2100171
+ skos:altLabel + "Abetalipoproteinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008692
skos:prefLabel - "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž" + "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200238 +
http://nanbyodata.jp/ontology/NANDO_2200605 (rdf:type owl:Class @@ -107175,62 +162777,81 @@

hasNotificationNumber93hasNotificationNumber37
dcterms:description - "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ‚†ใฃใใ‚Šใจใ—ใŸๅฟƒๅšขๆถฒใฎๅข—ๅคง๏ผˆๆตธๅ‡บๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚„ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒใ‚ฟใƒณใƒใƒŠใƒผใƒ‡ใจใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆ…ขๆ€งๅฟƒ่†œ็‚Žใฎไธ€็จฎใงใ‚ใ‚‹ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Žใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆHDL๏ผ‰ใŒๆฌ ๆใพใŸใฏไฝŽไธ‹ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ใ“ใ“ใงใฏใ€ๅŽŸ็™บๆ€ง๏ผˆ้บไผๆ€ง๏ผ‰ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆHDL-C๏ผ‰ใฎไฝŽไธ‹ใซใฏใ€HDLใฎ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ๅ ดๅˆใ€ๆˆ็†ŸใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ ดๅˆใ€็•ฐๅŒ–ใŒๆ›ดๆ–ฐใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚็พๅœจใ€ไปฅไธ‹ใฎ็–พๆ‚ฃใŒไธป่ฆใชใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚้ ปๅบฆใฏๅธŒใงใ‚ใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚๏ผ‘๏ผŽlecithin-cholesterol acyltransferase๏ผˆLCAT๏ผ‰ๆฌ ๆ็—‡๏ผ“๏ผ‰ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใชLCATใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ๅฎถๆ—ๆ€งLCATๆฌ ๆ็—‡ใจ้ญš็œผ็—…ใฎ็•ฐใชใ‚‹่กจ็พๅž‹ใ‚’ๅ‘ˆใ™ใ‚‹๏ผˆLCATๆดปๆ€งใฎๅทฎใซใ‚ˆใ‚‹๏ผ‰ใ€‚ๅนผๅฐ‘ๅ…ใ‚ˆใ‚Šๅ‡บ็พใ™ใ‚‹่ง’่†œๆททๆฟใจไฝŽHDL-C่ก€็—‡ใฏๅ…ฑ้€šใ™ใ‚‹ใ€‚ๅพŒ่€…ใฏใ“ใ‚Œใฎใฟใงใ‚ใ‚‹ใŒใ€ๅ‰่€…ใฏ่ตค่ก€็ƒใฎๅฝขๆ…‹็•ฐๅธธ๏ผˆๆบถ่ก€ๆ€ง่ฒง่ก€๏ผ‰ใƒป่›‹็™ฝๅฐฟ๏ผˆ่…Ž้šœๅฎณ๏ผ‰ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚HDL-Cใฏๆญฃๅธธใฎ1/10็จ‹ๅบฆใจใ•ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็ขบๅฎš่จบๆ–ญใซใฏใ€LCATๆดปๆ€ง๏ผˆ่›‹็™ฝ๏ผ‰ใฎๆธฌๅฎšใ‚„้บไผๅญๅค‰็•ฐใ‚’ๅŒๅฎšใ™ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚๏ผ’๏ผŽใ‚ฟใƒณใ‚ธใƒผใƒซ๏ผˆTangier๏ผ‰็—…๏ผ”๏ผ‰ใ‚ขใƒA-โ… ใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซ้‡่ฆใชATP-binding cassette transporter 1 (ABCA1)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใฎ้Žๅ‰ฐ่“„็ฉใซใ‚ˆใ‚‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ€่ง’่†œๆททๆฟใ€่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€็Ÿฅ่ฆš้šœๅฎณใ‚’็คบใ™ใ€‚HDL-Cใ€ใ‚ขใƒA-โ… ใฎไฝŽไธ‹ใ€ใƒ—ใƒญใ‚ขใƒA-โ… ใฎๅข—ๅŠ ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฏๆญฃๅธธใ€‚้บไผๅญ่งฃๆžใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚๏ผ“๏ผŽใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-โ… ๆฌ ๆ็—‡ใƒป็•ฐๅธธ็—‡๏ผ•๏ผ‰ใ‚ขใƒ A-โ… ใฏHDLใฎๆง‹ๆˆใ‚ขใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-โ… ใจใจใ‚‚ใซC-โ…ขใ€A-โ…คใ‚’ๆฌ ๆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅฎŒๅ…จใชๆฌ ๆ็—‡ใจๅค‰็•ฐไฝ“ใจใ—ใฆๆคœๅ‡บใ•ใ‚Œใ‚‹็•ฐๅธธ็—‡ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บๆ€งใŒใ‚ใ‚‹ใ€‚HDL-Cใ€ใ‚ขใƒAใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ‚„ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚„่…Ž้šœๅฎณใฏใชใ„ใ€‚ๅ‹•่„ˆ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฎไบˆ้˜ฒใจใƒใ‚งใƒƒใ‚ฏใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ใ‚ขใƒA-1ใฎๅค‰็•ฐใฎไธ€้ƒจใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200238NANDO:2200605
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_21_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_133_01.pdf
rdfs:label - "Chronic pericarditis" + "HDL deficiency" @en
rdfs:label - "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" + "ใ“ใ†ใฒใ˜ใ‚…ใ†ใ‚ŠใฝใŸใ‚“ใฑใใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_21_025/https://www.shouman.jp/disease/details/08_12_133/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100063http://nanbyodata.jp/ontology/NANDO_2100171
+ skos:altLabel + "HDLๆฌ ไน็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017773
skos:prefLabel - "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž" + "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡" @ja
- - + - - + + - + - + + "129ใ‹ใ‚‰133ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200239 +
http://nanbyodata.jp/ontology/NANDO_2200606 (rdf:type owl:Class @@ -107238,67 +162859,69 @@

hasNotificationNumber25hasNotificationNumber39
dcterms:description - "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆœ‰็—‡็Šถใฎๅ ดๅˆใฏใ€ๅค–็ง‘็š„ใซๅฟƒ่†œๅˆ‡้™คใ‚’ใŠใ“ใชใ†ใ€‚ๆœฌ็—‡ใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่ก€ไธญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰ใฎ็•ฐๅธธ้ซ˜ๅ€คใ€ใ‚ใ‚‹ใ„ใฏ็•ฐๅธธไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณชใฎ้Žๅ‰ฐ่“„็ฉใ‚„ไฝŽไธ‹ใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹129ใ€œ133ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€่ก€ๆธ…่„‚่ณชใ‚„ใƒชใƒ่›‹็™ฝใฎไปฃ่ฌ็ณปใซ้–ข้€ฃใ™ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆๅŽŸ็™บๆ€งใฎ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200239NANDO:2200606
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_22_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_134_01.pdf
rdfs:label - "Constrictive pericarditis" - @en
rdfs:label - "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" + "129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other disorder of lipid metabolism" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_22_026/https://www.shouman.jp/disease/details/08_12_134/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100064
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006711http://nanbyodata.jp/ontology/NANDO_2100171
skos:prefLabel - "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž" + "129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200240 +
http://nanbyodata.jp/ontology/NANDO_2200607 (rdf:type owl:Class @@ -107306,62 +162929,93 @@

hasNotificationNumber53hasNotificationNumber31
dcterms:description - "ๅ…ˆๅคฉ็š„ใซๅฟƒ่†œใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€้ƒจๅˆ†ๆฌ ๆใงใฏใ€ๅฟƒ่€ณใŒๅตŒ้ “ใ—ใŸใ‚Šใ€ๅ† ๅ‹•่„ˆใŒๅœง่ฟซใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใจ่ƒธ็—›ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅตŒ้ “ใฎๅฑ้™บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใ™ใ‚‹ใ€‚" + "ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็”ฃ็”Ÿใ‚ใ‚‹ใ„ใฏๆˆ็†ŸใซใŠใ‘ใ‚‹ๅ…ˆๅคฉ็š„้šœๅฎณใซใ‚ˆใ‚Š็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใ‚’็”Ÿใ˜ใ‚‹ไธ€้€ฃใฎ้บไผๆ€ง็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚6็จฎใฎ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅคๅ…ธๅž‹๏ผš Vๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL5A1 COL5Aใ€€้–ข็ฏ€ใฎ้Žไผธๅฑ•ใ€ๅ‰ตๅ‚ทๆฒป็™’้…ๅปถใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้–ข็ฏ€ๅž‹๏ผšๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใŒใ€ๅŽŸๅ› ้บไผๅญใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆŸ”ใ‚‰ใ‹ใ„็šฎ่†šใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’่ชใ‚ใ‚‹ใ€‚่ก€็ฎกๅž‹๏ผš โ…ขๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL3A1ใ€€่–„ใ„้€้Žๆ€งใฎ็šฎ่†šใ€ๅ‹•่„ˆใƒป่…ธ็ฎกใƒปๅญๅฎฎ็ ด่ฃ‚ใ€ๆ˜“ๅ‡บ่ก€ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ๅพŒๅดๅฝŽๅž‹๏ผš ใƒชใ‚ธใƒณใƒใ‚คใƒ‰ใƒญใ‚ชใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ๆฌ ๆใŒๅŽŸๅ› ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ…จ่บซๆ€งๅผ›็ทฉๆ€ง้–ข็ฏ€ใ€ๅ…ˆๅคฉๆ€ง้€ฒ่กŒๆ€ง่„ŠๆคŽๅพŒๅดๅฝŽใ€็œผ็ƒ็ ด่ฃ‚ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹๏ผšIๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผๅˆ‡ๆ–ญ้ƒจไฝใฎ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL1A1 COL1A2 ๅๅพฉๆ€งไบœ่„ฑ่‡ผใ‚’ไผดใ„ๅ…จ่บซๆ€งใฎ้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ€ไธกๅดๅ…ˆๅคฉๆ€ง่‚ก้–ข็ฏ€่„ฑ่‡ผใ‚’่ชใ‚ใ‚‹ใ€‚็šฎ่†šๅผ›็ทฉๅž‹๏ผšใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผใฎๆฌ ๆใŒๅŽŸๅ› ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ๅŽŸๅ› ้บไผๅญใฏใ€ADAMTS2ใ€€็šฎ่†šใฎ่„†ๅผฑๆ€งใ€ใŸใ‚‹ใ‚“ใ ็šฎ่†šใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200240NANDO:2200607
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_23_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "Congenital defect of the pericardium" + "Ehlers-Danlos syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" + "ใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_23_027/http://nanbyodata.jp/ontology/NANDO_1200645
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_135/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100065http://nanbyodata.jp/ontology/NANDO_2100172
+ skos:altLabel + "EDS" + @en
+ skos:altLabel + "Ehlers-Danlos็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020066
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡" + "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200241 +
http://nanbyodata.jp/ontology/NANDO_2200608 (rdf:type owl:Class @@ -107369,62 +163023,79 @@

hasNotificationNumber76hasNotificationNumber32
dcterms:description - "ๆœฌ็—‡ใฏใ€็”Ÿๆฅๅฅๅบทใชไนณๅ…ใซใ€ๆ•ฐๆ—ฅใฎๆ„Ÿๅ†’ๆง˜ใฎๅ‰้ง†็—‡็Šถใซๅผ•ใ็ถšใ„ใฆ็ช็„ถใซๅƒงๅธฝๅผใฎ่…ฑ็ดขใŒๆ–ญ่ฃ‚ใ—ใ€็™บ็—‡ใจๅŒๆ™‚ใซๆ€ฅ้€Ÿใซๅ‘ผๅธๅพช็’ฐไธๅ…จใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ4-6ใƒถๆœˆใซไนณๅ…ใซๅคšใใ€ๆ˜ฅใ‹ใ‚‰ๅคใซใ‹ใ‘ใฆๅฅฝ็™บใ—ใ€ๅ ฑๅ‘Šไพ‹ใฎใปใจใ‚“ใฉใŒๆ—ฅๆœฌไบบไนณๅ…ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผใซใ‚ˆใ‚Šๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚Œใ€ๅฐ‚้–€ๆ–ฝ่จญใง้ฉๅˆ‡ใชๅฟƒ่‡“ๅค–็ง‘ๆฒป็™‚ใŒใชใ•ใ‚Œใชใ„ใจใ€ๆ€ฅๆ€งๅทฆๅฟƒไธๅ…จใซใ‚ˆใ‚Š็ŸญๆœŸ้–“ใซๆญปใซ่‡ณใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใพใŸๅค–็ง‘ๆ‰‹่ก“ใซใ‚ˆใ‚Šๆ•‘ๅ‘ฝใ—ๅพ—ใŸๅ ดๅˆใ‚‚ใ€ๆฉŸไผšๅผ็ฝฎๆ›่ก“ใ‚’ไฝ™ๅ„€ใชใใ•ใ‚Œใ‚‹ใ€้บๆฎ‹ใ™ใ‚‹ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใซใ‚ˆใ‚Šๅฟƒไธๅ…จใ‚„ไธๆ•ด่„ˆใ‚’็ถš็™บใ™ใ‚‹ใ€่ก“ๅ‰ใฎใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใชใฉใ€ๅญใฉใ‚‚ใŸใกใฎ็”Ÿๆถฏใซใ‚ใŸใ‚‹้บๆฎ‹็—‡ใ‚„็ถš็™บ็—‡ใ‚’ใใŸใ™ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ›ฝๅ†…ๅค–ใฎๅฐๅ…็ง‘ใฎๆ•™็ง‘ๆ›ธใซๆœชใ ่จ˜่ผ‰ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšใใฎๅฐๅ…็ง‘ๅŒปใฏๆœฌ็–พๆ‚ฃใฎๅญ˜ๅœจใ‚’ๅๅˆ†ใซ่ช่ญ˜ใ—ใฆใ„ใชใ„ใŸใ‚ใ€ๆ€ฅๆ€งๆœŸใ ใ‘ใงใชใ้ ้š”ๆœŸใฎ็—…ๆ…‹ใฎๅฎŸๆ…‹ใ‚’ๆญฃ็ขบใซๆŠŠๆกใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅบƒใๆƒ…ๅ ฑใ‚’ๅฐๅ…็ง‘ๅŒปใ‚„ๅ†…็ง‘ๅŒปใซๆไพ›ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + "ใƒ’ใ‚ขใƒชใƒณๆง˜็‰ฉ่ณชใŒ็šฎ่†šใ‚„็ฒ˜่†œใซๆฒˆ็€ใ™ใ‚‹ใ€‚็‰นๅพด็š„ๆ‰€่ฆ‹ใจใ—ใฆใ€็œผ็žผ็ธใซๅฐไธ˜็–นใŒ็œŸ็ ใฎ้ฆ–ใ‹ใ–ใ‚Š็Šถใซไธ€ๅˆ—ใซไธฆใถใ€‚่‚˜ใชใฉใซ็–ฃ่ด…็Šถใฎ็ต็ฏ€ใ‚„ไธ˜็–นใ€ๅฃ่…”ๅ†…ใซ็™ฝ่‰ฒ็ต็ฏ€ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅฃฐ้–€ใซ็ต็ฏ€ใŒใงใใ‚‹ใจๅ—„ๅฃฐใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€extracellular matrix protein 1(ECM1)้บไผๅญใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200241NANDO:2200608
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_24_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_136_01.pdf
rdfs:label - "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants" + "Lipoid proteinosis" @en
rdfs:label - "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" + "ใ‚Šใฝใ„ใฉใŸใ‚“ใฑใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_24_028/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2519
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_136/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100066http://nanbyodata.jp/ontology/NANDO_2100172
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009530
skos:prefLabel - "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚" + "ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡" @ja
- - + - - + + - + - + + "135ใŠใ‚ˆใณ136ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใคใ”ใ†ใใ—ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200242 +
http://nanbyodata.jp/ontology/NANDO_2200609 (rdf:type owl:Class @@ -107432,62 +163103,69 @@

hasNotificationNumber10hasNotificationNumber33
dcterms:description - "ๆญฃๅธธใชใ‚‰ใ€ๅทฆๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚็”ŸๅพŒใฏๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใซใชใ‚‹ใŸใ‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฏใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€่กŒใ‚’ไป‹ใ—ใฆใ—ใ‹ๆฝ…ๆตใ•ใ‚Œใชใใชใ‚‹ใ€‚ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฎ่™š่ก€ใฎใŸใ‚ใซใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚„ใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡้กžไผผใฎๅทฆๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใชใฉใŒ่ตทใ“ใ‚‹ใ€‚ๆฒป็™‚ใ•ใ‚Œใชใ‘ใ‚Œใฐไนณๅนผๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ๅž‹ใจใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€็ฎกใŒ็™บ้”ใ—ใฆๅฟƒ็ญ‹่™š่ก€ใŒ็›ฎ็ซ‹ใŸใชใ„ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ใฉใกใ‚‰ใฎๅž‹ใซใ—ใฆใ‚‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใฉๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ๅทฆๅฎคๆฉŸ่ƒฝไธๅ…จใชใฉใ‚ใ‚Œใฐใ€ใใ‚Œใซๅฏพใ™ใ‚‹ๅ†…็ง‘็š„ๆฒป็™‚๏ผˆๅˆฉๅฐฟ่–ฌใชใฉ๏ผ‰ใ‚’่กŒใ†ใ€‚" + "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ใฏใ€ใ‚ณใƒฉใƒผใ‚ฒใƒณใ€้ชจๅŸบ่ณชใชใฉใฎไปฃ่ฌใซ้–ขไฟ‚ใ™ใ‚‹้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็šฎ่†šใ€้–ข็ฏ€ใ€้ชจใซๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹135ใ€œ138ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ตๅˆ็น”ใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200242NANDO:2200609
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_25_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_137_01.pdf
rdfs:label - "Abnormal origin of left coronary artery from pulmonary artery" - @en
rdfs:label - "ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" @ja
+ rdfs:label + "Other connective tissue disorder" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_25_029/https://www.shouman.jp/disease/details/08_13_137/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100067http://nanbyodata.jp/ontology/NANDO_2100172
skos:prefLabel - "ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200243 +
http://nanbyodata.jp/ontology/NANDO_2200610 (rdf:type owl:Class @@ -107495,62 +163173,69 @@

hasNotificationNumber11hasNotificationNumber57
dcterms:description - "ๆญฃๅธธใชใ‚‰ใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใฏ่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใŸใ‚ใ€ๅณๅ† ๅ‹•่„ˆ้‚„ๆตๅŸŸใฎ่™š่ก€ใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใชใ‚‰็ตŒ้Ž่ฆณๅฏŸใ—ใฆใ‚‚ใ„ใ„ใจใฎๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใŒใ€็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€็„ก็—‡็Šถใงใ‚‚ๆ‰‹่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ๅณๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใ„ใ—็ต็ดฎ่ก“ใ‚’่กŒใ†ใ€‚" + "ๅ…ˆๅคฉ็š„ใชใƒ˜ใƒ ๅˆๆˆ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็šฎ่†šๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใจใ—ใฆๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆCEP๏ผ‰ใ€่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆEPP๏ผ‰ใซใ€่‚ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ไพ‹ใจใ—ใฆALA่„ฑๆฐด้…ต็ด ๆฌ ๆ็—‡ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆADP๏ผ‰ใ€ๆ€ฅๆ€ง้–“ๆญ‡ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆAIP๏ผ‰ใ€้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆHCP๏ผ‰ใ€็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(VP)ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆPCT๏ผ‰ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใจ้ชจ้ซ„ใฎไธกๆ–นใซ็•ฐๅธธใฎใ‚ใ‚‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใฏใ€่‚่ตค่Šฝ็ƒใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(HEP)ใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏใ€CEP ADP HEP ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ€ใใฎไป–ใฎ็—…ๅž‹ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200243NANDO:2200610
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_25_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "Abnormal origin of right coronary artery from pulmonary artery" + "congenital porphyria" @en
rdfs:label - "ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_25_030/https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100067http://nanbyodata.jp/ontology/NANDO_2100173
skos:prefLabel - "ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - + + - + - + + + + + + "ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200244 +
http://nanbyodata.jp/ontology/NANDO_2200611 (rdf:type owl:Class @@ -107558,62 +163243,84 @@

hasNotificationNumber12hasNotificationNumber23
dcterms:description - "ๅทฆๅ† ๅฐ–ใ‹ใ‚‰ๅทฆๅ† ๅ‹•่„ˆใŒใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใŒๅ‡บใ‚‹ใฎใŒๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใใ‚Œไปฅๅค–ใฎๅฝขๆ…‹ใ‚’ๅ…จใฆๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใจใ„ใ†ใ€‚ๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใฏๅˆฅ้ …ใงๆ‰ฑใ†ใ€‚ๅ˜ไธ€ๅ† ๅ‹•่„ˆใ€ๅทฆๅ† ๅ‹•่„ˆๆดž๏ผˆๅทฆๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅณๅ† ๅ‹•่„ˆ่ตทๅง‹ใ€ๅณๅ† ๅ‹•่„ˆๆดž๏ผˆๅณๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅทฆๅ† ๅ‹•่„ˆ่ตทๅง‹ใŒใ‚ใ‚‹ใ€‚่ตทๅง‹็•ฐๅธธใฎๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใจไธป่‚บๅ‹•่„ˆใจใฎ้–“ใ‚’่ตฐ่กŒใ™ใ‚‹ใ“ใจใงใ€ๅฟƒ็ญ‹่™š่ก€ใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚’่ตทใ“ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่‚่‡“ใงๅˆๆˆใ•ใ‚Œใ‚‹็ณ–ใ‚ฟใƒณใƒ‘ใ‚ฏใงใ€่ก€ๆถฒไธญใฎฮฑ1ใ‚ฐใƒญใƒ–ใƒชใƒณๅˆ†็”ปใฎ80ใ‹ใ‚‰90๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่ก€ๆตใ‚’ไป‹ใ—ใฆๆฟƒๅบฆไพๅญ˜็š„ใซ่‚บๅ†…ๆ‹กๆ•ฃใ—ใ€ๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ้˜ปๅฎณๅ‰คใจใ—ใฆ่‚บ่ƒžๅฃใฎ้šœๅฎณใ‚’้˜ฒใไฝœ็”จใŒใ‚ใ‚‹ใ€‚ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใŒ็”Ÿไฝ“ๅ†…ใงๆฌ ๆใ™ใ‚‹ใจใ€ๅฐๅ…ใงใฏใ€่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚้šœๅฎณใ€ๆˆไบบใงใฏๆ—ฉๆœŸ็™บ็—‡ๅž‹่‚บๆฐ—่…ซใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200244NANDO:2200611
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_25_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_15_139_01.pdf
rdfs:label - "29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" + "Alpha-1-antitrypsin deficiency" + @en
+ rdfs:label + "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" @ja
rdfs:label - "Other anomalous origin of coronary artery" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_25_031/http://nanbyodata.jp/ontology/NANDO_1200755
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7534
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_15_139/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100067http://nanbyodata.jp/ontology/NANDO_2100174
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013282
skos:prefLabel - "29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ" + "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200245 +
http://nanbyodata.jp/ontology/NANDO_2200612 (rdf:type owl:Class @@ -107621,62 +163328,81 @@

hasNotificationNumber5hasNotificationNumber10
dcterms:description - "ๅทๅดŽ็—…ใซๅˆไฝตใ™ใ‚‹ๅ† ๅ‹•่„ˆ็˜คใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใฎ่จบๆ–ญใฏใ€ๆ—ฅๆœฌๅทๅดŽ็—…ๅญฆไผšใฎ่จบๆ–ญใฎๆ‰‹ๅผ•ใ๏ผˆhttp://www.jskd.jp/info/tebiki.html๏ผ‰ใซ่จ˜่ผ‰ใŒใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใซๅˆไฝตใ—ใŸๅ† ๅ‹•่„ˆ็˜คใซใคใ„ใฆใฏใ€ๆ—ฅๆœฌๅพช็’ฐๅ™จๅญฆไผšใซใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผˆๅทๅดŽ็—…ๅฟƒ่‡“่ก€็ฎกๅพŒ้บ็—‡ใฎ่จบๆ–ญๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผ‰ใŒใ‚ใ‚‹ ๏ผˆhttp://www.j-circ.or.jp/guideline/pdf/JCS2013_ogawas_h.pdf๏ผ‰ใ€‚ๅทๅดŽ็—…ใฏๅŽŸๅ› ไธๆ˜Žใฎๅ…จ่บซๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‰นใซๅ† ๅ‹•่„ˆใฎ็‚Ž็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…็™บ็—‡ๅพŒ6ใ€œ8ๆ—ฅ้ ƒใ€ๅ‹•่„ˆใฎๅ†…่†œใŠใ‚ˆใณๅค–่†œใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใŒใŠใ“ใ‚‹ใ€‚10็—…ๆ—ฅ้ ƒใ€ๅ‹•่„ˆๅฃๅ…จๅฑคใฎ็‚Ž็—‡ใจใชใ‚Šใ€ๅ‹•่„ˆใฎๆ‹กๅผตใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚ŒใŒๆ‚ชๅŒ–ใ™ใ‚‹ใจ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚็˜คๅ†…ใฎ่ก€ๆ “ใฎไบˆ้˜ฒใฎ็›ฎ็š„ใงใ€ๆŠ—่ก€ๆ “ใ€ๆŠ—ๅ‡ๅ›บ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚็˜คใฎ็‹ญ็ช„ใซๅฏพใ—ใฆใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚„ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚" + "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฏใ€็จฎใ€…ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ชจ้ซ„ใซๅทจ่ตค่Šฝ็ƒใŒๅ‡บ็พใ™ใ‚‹่ฒง่ก€ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณB12ๆฌ ไนใ‚„่‘‰้…ธๆฌ ไนใชใฉใซใ‚ˆใ‚Šใ€DNAๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œๆ ธใฎๆˆ็†Ÿ้šœๅฎณใ‚’ใใŸใ—ใ€็•ฐๅธธใชๅทจ่ตค่Šฝ็ƒใŒ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚RNAๅˆๆˆใ‚„ใ‚ฟใƒณใƒ‘ใ‚ฏๅˆๆˆ้šœๅฎณใฏ็›ธๅฏพ็š„ใซ่ปฝๅบฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€็ดฐ่ƒž่ณชใฏๆˆ็†Ÿใ—ๅคงใใใชใ‚Šใ€ๆœช็†Ÿใชๅคงใใ„ๆ ธใจ็ดฐ่ƒž่ณช้–“ใฎๆˆ็†Ÿไธไธ€่‡ดใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅทจ่ตค่Šฝ็ƒใฎๅคšใใฏๆˆ็†Ÿใ™ใ‚‹ใ“ใจใŒใงใใšใ€้ชจ้ซ„ๅ†…ใงใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใซใ‚ˆใ‚Šๆญปๆป…ใ—็„กๅŠน้€ ่ก€ใ‚’ใใŸใ™ใ€‚DNAๅˆๆˆ้šœๅฎณใฏๅ…จ่บซใง่ตทใ“ใ‚Šใ€่ฒง่ก€ไปฅๅค–ใซใ‚‚ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200245NANDO:2200612
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_26_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_01_001_01.pdf
rdfs:label - "Coronary aneurysms complicated with kawasaki disease" + "Megaloblastic anemia" @en
rdfs:label - "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" + "ใใ‚‡ใ›ใใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_26_032/https://www.shouman.jp/disease/details/09_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100068http://nanbyodata.jp/ontology/NANDO_2100176
+ skos:altLabel + "Megaloblastic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001700
skos:prefLabel - "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค" + "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200246 +
http://nanbyodata.jp/ontology/NANDO_2200613 (rdf:type owl:Class @@ -107684,62 +163410,74 @@

hasNotificationNumber6hasNotificationNumber26
dcterms:description - "ๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใธใฎ้–‹ๅฃ้ƒจใง้–‰้Ž–ใ‚ใ‚‹ใ„ใฏ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ๅทฆๅ† ๅ‹•่„ˆใซๅคšใใ€ๅ˜็‹ฌใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใจๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ‚„ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใซๅˆไฝตใ—ใฆ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใŒใคใๆฌก็ฌฌใ€้–‰้Ž–ใฎๅฝขๆ…‹ใซๅฟœใ˜ใฆใ€่†œๆง˜็‰ฉใฎๅˆ‡้™คใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใชใฉใ‚’่กŒใ†ใ€‚" + "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ใŠใ‚ˆใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใŒๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใฎใซๅฏพใ—ใ€่ตค่Šฝ็ƒ็™†ใงใฏ้ธๆŠž็š„ใซ่ตค่ก€็ƒ็ณปใฎใฟใŒๆธ›ๅฐ‘ใ—ใ€้‡็—‡ใฎ่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€็™ฝ่ก€็ƒๆ•ฐใจ่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใซไฟใŸใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใŒใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†ใจใ—ใฆDiamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งๆ…ขๆ€ง่ตค่Šฝ็ƒ็™†ใฏ็—…ๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งใจๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹็ถš็™บๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200246NANDO:2200613
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_27_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_02_002_01.pdf
rdfs:label - "Stenosis or atresia of coronary artery" + "acquired pure red cell aplasia" @en
rdfs:label - "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡" + "ใ“ใ†ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_27_033/http://nanbyodata.jp/ontology/NANDO_1200889
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100069http://nanbyodata.jp/ontology/NANDO_2100177
skos:prefLabel - "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡" + "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ†" + @ja-Hira - - + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200247 +
http://nanbyodata.jp/ontology/NANDO_2200614 (rdf:type owl:Class @@ -107747,67 +163485,88 @@

hasNotificationNumber15hasNotificationNumber27
dcterms:description - "่ƒธ็—›ๆ™‚ใซๅฟƒ้›ปๅ›ณใงSTไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใŸใ ใ—ใ€็„ก็—‡ๅ€™ๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใŒ้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใง่จผๆ˜Žใ•ใ‚Œใ€ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่™š่ก€ใŒ่จผๆ˜Žใ•ใ‚ŒใŸๅ ดๅˆใ‚’ใ„ใ†ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚" + "Diamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใฏใ€่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏๆญฃๅฝขๆˆใงใ‚ใ‚‹ใŒ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ก”่‰ฒไธ่‰ฏใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€1ๆญณใพใงใซ90๏ผ…ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚็ด„40๏ผ…ใฎไพ‹ใฏ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๆ•ฃ็™บไพ‹ใงใ‚ใ‚‹ใŒใ€็ด„10๏ฝž20๏ผ…ใฎ็—‡ไพ‹ใงใฏๅฎถๆ—ๆญดใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200247NANDO:2200614
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_28_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_02_003_01.pdf
rdfs:label - "Angina pectoris" + "congenital red cell aplasia" @en
rdfs:label - "็‹ญๅฟƒ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01632 + rdfs:label + "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_28_034/https://www.shouman.jp/disease/details/09_02_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100070http://nanbyodata.jp/ontology/NANDO_2100177
+ skos:altLabel + "Diamond-Blackfan anaemia" + @en
+ skos:altLabel + "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015253
skos:prefLabel - "็‹ญๅฟƒ็—‡" + "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200248 +
http://nanbyodata.jp/ontology/NANDO_2200615 (rdf:type owl:Class @@ -107815,72 +163574,93 @@

hasNotificationNumber16hasNotificationNumber43
dcterms:description - "ๅฟƒ็ญ‹ๆข—ๅกžใฏใ€ๆ€ฅๆฟ€ใชๅ† ๅ‹•่„ˆ่ก€ๆตใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šๅฟƒ็ญ‹ๅฃŠๆญปใซใ„ใŸใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจไธๅฟซๆ„Ÿใ€ใ‚ทใƒงใƒƒใ‚ฏใชใฉ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใจใ€็„ก็—‡ๅ€™ๆ€งใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€ๅฟƒ้›ปๅ›ณใงใฎ็ตŒๆ™‚็š„ๅค‰ๅŒ–ใŒใ‚ใ‚‹ใ€‚้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใงๅ† ๅ‹•่„ˆ็‹ญ็ช„ใ€้–‰ๅกžใฎๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่ก€ๆตใŒไฝŽไธ‹ใ—ๅ†็ŒๆตใŒ็„กใ„ใ€‚็™บ็—‡ๆ—ฉๆœŸใชใ‚‰ใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ๆบถ่งฃ็™‚ๆณ•ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅ† ๅ‹•่„ˆๆ‹กๅผตใ‚’ใŠใ“ใชใ†ใ€‚ใใฎๅพŒใฎๆ…ขๆ€งๆœŸใซใฏใ€็—…ๆ…‹ใจ้ฉๅฟœใซๅฟœใ˜ใฆใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ€ๅฟƒไธๅ…จๆฒป็™‚ใชใฉใ‚’่กŒใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ใŠใ‚ˆใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚Iๅž‹ใ‹ใ‚‰IIIๅž‹ใฎ๏ผ“็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200248NANDO:2200615
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_28_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_03_004_01.pdf
rdfs:label - "Myocardial infarction" + "Congenital dyserythropoietic anemia" @en
rdfs:label - "ๅฟƒ็ญ‹ๆข—ๅกž" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01730http://nanbyodata.jp/ontology/NANDO_1200885
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_28_035/https://www.shouman.jp/disease/details/09_03_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100070http://nanbyodata.jp/ontology/NANDO_2100178
+ skos:altLabel + "CDA" + @en
+ skos:altLabel + "Congenital dyserythropoietic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005068http://purl.obolibrary.org/obo/MONDO_0019403
skos:prefLabel - "ๅฟƒ็ญ‹ๆข—ๅกž" + "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + "ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200249 +
http://nanbyodata.jp/ontology/NANDO_2200616 (rdf:type owl:Class @@ -107888,72 +163668,81 @@

hasNotificationNumber22hasNotificationNumber46
dcterms:description - "ๅทฆๅฟƒๆˆฟใ€ๅทฆๅฟƒๅฎคใ€ไธŠ่กŒๅคงๅ‹•่„ˆใ€ๅคงๅ‹•่„ˆๅผ“ใซใ„ใŸใ‚‹ๅทฆๅฟƒ็ณปใฎไฝŽๅฝขๆˆใจใ€ๅƒงๅธฝๅผใ€ๅคงๅ‹•่„ˆๅผใฎไฝŽๅฝขๆˆใ€็‹ญ็ช„ใ€ใชใ„ใ—้–‰้Ž–ใ‚’ใจใ‚‚ใชใ†็–พๆ‚ฃใ€‚็”ŸๅพŒใฏใ€่ก€่กŒๅ‹•ๆ…‹ไธŠใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใจๅฟƒๆˆฟ้–“ไบค้€šใŒ็”Ÿๅ‘ฝ็ถญๆŒใซไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚็”ŸๅพŒใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€้ซ˜ๅบฆๅฟƒไธๅ…จใ‚’ใจใ‚‚ใชใ†ใ€‚ๆ‰‹่ก“ใซใ‚ˆใฃใฆใ‚‚ๅณๅฎคใ‚’ไฝ“ๅฟƒๅฎคใจใ—ใŸFontanๆ‰‹่ก“ใงใ—ใ‹ไฟฎๅพฉใงใใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ปๅบฆใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ1.4๏ฝž3.8๏ผ…ใงใ€็ฉๆฅต็š„ๆฒป็™‚ใ‚’ใ—ใชใ„ๅ ดๅˆใ€ๅคงๅŠใฏ1ใ‹ๆœˆไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅ† ่ก€ๆตใ‚’ๅซใ‚ใ€ไฝ“่ก€ๆตใŒๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅ‹•่„ˆ็ฎกใฎ้–‰้Ž–ใฏใ—ใฐใ—ใฐ่‡ดๅ‘ฝ็š„ใจใชใ‚‹ใ€‚ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใซใ‚ˆใ‚Šductal shock ใ‚’ไบˆ้˜ฒใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ใ“ใ‚Œใซใ‚ˆใ‚Šๅง‘ๆฏๆ‰‹่ก“ใพใงๆ‚ฃๅ…ใ‚’่‰ฏๅฅฝใช็Šถๆ…‹ใซไฟใฆใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ใฏๆ–ฐ็”Ÿๅ…ๆœŸใซNorwoodๆ‰‹่ก“๏ผˆ+Blalock-Taussig็Ÿญ็ตก่ก“ใพใŸใฏๅณๅฎคโ€”่‚บๅ‹•่„ˆ็Ÿญ็ตก่ก“๏ผ‰ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใง็ถญๆŒใ€ใพใŸใฏไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎกใซใ‚นใƒ†ใƒณใƒˆ็•™็ฝฎใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซไธกๆ–นๅ‘ๆ€งGlennๆ‰‹่ก“ใ€ๅนผๅ…ๆœŸใซใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„ใซใŠใ‘ใ‚‹็’ฐ็Šถ้‰„่Šฝ็ƒใฎๅ‡บ็พใ‚’็‰นๅพดใจใ—ใ€ๅŒๆ™‚ใซ็„กๅŠน้€ ่ก€ใŒ้€ฒ่กŒใ™ใ‚‹่ฒง่ก€ใงใ‚ใ‚‹ใ€‚็’ฐ็Šถ้‰„่Šฝ็ƒใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซใŠใ‘ใ‚‹้‰„ใฎๅˆฉ็”จ้šœๅฎณใซใ‚ˆใ‚Šๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใ€ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€ใƒ˜ใƒ ๅˆๆˆใฎ็•ฐๅธธใ€้‰„ - ็กซ้ป„ใ‚ฏใƒฉใ‚นใ‚ฟใƒผใฎๅˆๆˆใƒป่ผธ้€็•ฐๅธธใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚„ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAใฎๅค‰็•ฐใƒปๆฌ ๅคฑใชใฉใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใซๅฑžใ™ใ‚‹ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใจใ€่–ฌๅ‰คๆ€งใ€ไธญๆฏ’ๆ€งใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใชใŠใ€ๅ…ˆๅคฉๆ€งใ€ๅพŒๅคฉๆ€งใ‚’ๅ•ใ‚ใšใ€ๆœฌ็–พๆ‚ฃใฎไธ€้ƒจใซใƒ”ใƒชใƒ‰ใ‚ญใ‚ทใƒณๆฒป็™‚ใซๅๅฟœใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚Šใ€็‹ฌ็ซ‹ใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200249NANDO:2200616
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_29_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_04_005_01.pdf
rdfs:label - "Hypoplastic left heart syndrome" + "Sideroblastic anemia" @en
rdfs:label - "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01272 + rdfs:label + "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_29_036/https://www.shouman.jp/disease/details/09_04_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100071http://nanbyodata.jp/ontology/NANDO_2100179
+ skos:altLabel + "Sideroblastic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004933http://purl.obolibrary.org/obo/MONDO_0015194
skos:prefLabel - "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค" + "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200250 +
http://nanbyodata.jp/ontology/NANDO_2200617 (rdf:type owl:Class @@ -107961,67 +163750,91 @@

hasNotificationNumber68hasNotificationNumber50
dcterms:description - "ๅฝขๆ…‹ๅญฆ็š„ใ€่ก€่กŒๅ‹•ๆ…‹็š„ใซใ€ใฒใจใคใฎๅฟƒๅฎคใ—ใ‹ๅญ˜ๅœจใ—ใชใ„ใ‚‚ใฎใ€‚ใŸใ ใ—ใ€็—•่ทก็š„ใซใ‚‚ใ†ใฒใจใคใฎๅฟƒๅฎคใŒๅญ˜ๅœจใ—ใฆใ‚‚ใ‚ˆใ„ใ€‚็—•่ทก็š„ๅฟƒๅฎคใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใซใฏใ€ใใฎ็—•่ทก็š„ๅฟƒๅฎคใซใฏๆˆฟๅฎคๅผไป˜ๅฑžๅ™จใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ๅทฆๅฎคๅž‹ๅ˜ๅฟƒๅฎคใจๅณๅฎคๅž‹ๅ˜ๅฟƒๅฎคใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใŒๅ›ฐ้›ฃใช็–พๆ‚ฃใฎใฒใจใคใงใ‚ใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅค–็ง‘ๆฒป็™‚ใฎ้€ฒๆญฉใงไบˆๅพŒใŒๆ”นๅ–„ใ•ใ‚ŒใฆใใŸใ€‚่‚บ่ก€ๆตใฎๅคšๅฏกใ‚„่‚บ้™่„ˆใฎ็‹ญ็ช„ใซใ‚ˆใ‚Š่ก€่กŒๅ‹•ๆ…‹ใฏ็•ฐใชใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่‚บ่ก€ๆตใฎๅคšๅฐ‘ใซใ‚ˆใ‚Šไธ‰็พคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚1. ่‚บ่ก€ๆตๅข—ๅŠ ็พคใƒใ‚ขใƒŽใƒผใ‚ผใฏ่ปฝใ„ใŒใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆๅฟƒไธๅ…จใ‚’ๆฅใŸใ—ไบˆๅพŒไธ่‰ฏใชใ‚‚ใฎใŒๅคšใ„ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏๅฟƒไธๅ…จ็—‡็ŠถใŒไธปใงใ‚ใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฏ็›ฎ็ซ‹ใŸใชใ„ใ€‚ๅคงๅ‹•่„ˆๆตๅ‡บ่ทฏใฎ้–‰ๅกžๆ€ง็—…ๅค‰๏ผˆ็ƒๅฎคๅญ”็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใƒป้–‰้Ž–๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚2. ่‘—ใ—ใ„่‚บ่ก€ๆตๆธ›ๅฐ‘็พค้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„้–‰้Ž–ใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Š่‘—ๆ˜Žใชใƒใ‚ขใƒŽใƒผใ‚ผใŒ็พใ‚ŒไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹่ซธ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚Œใฐๅคšใใฏไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ใ€‚้‡ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎๅˆไฝตใงใฏใ€ๅณๅฎคๆ€งๅ˜ๅฟƒๅฎคใจใใซ่‡“ๅ™จๅฟƒๆˆฟ้Œฏไฝใซๅคšใใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใง็™บ็—‡ใ—ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใซใ‚ˆใ‚‹ๅŽ็ธฎๆ€ง้ง†ๅ‡บๆ€ง้›‘้Ÿณใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใซใ‚ˆใ‚‹้€ฃ็ถšๆ€ง้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚3. ้ฉๅบฆใช่‚บ่ก€ๆตใ‚’็คบใ™็พคไธญ็ญ‰ๅบฆไปฅไธ‹ใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใ€่‡จๅบŠ็š„ใซใฏใปใจใ‚“ใฉใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใชใ„ใ‹่ปฝๅบฆใงใ‚ใ‚‹ใ€‚้‹ๅ‹•่ƒฝใฏ่‰ฏใไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๆ‰‹่ก“็„กใ—ใงไธญๅนดๆœŸใพใง็”Ÿๅญ˜ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไปฅไธŠใฎ๏ผ“็พคใฎใฉใ‚Œใงใ‚ใฃใฆใ‚‚ใ€ๅŸบๆœฌ็š„ใซใฏใ€ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏใ€ๅฟƒๅฎคไธญ้š”ๅฝขๆˆ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ้•ทๆœŸไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + "้‰„ใฎ่ผธ้€ใ‚’ๅธใ‚‹ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ๏ผˆtransferrin: TF๏ผ‰ใฎๆฌ ไนใซใ‚ˆใ‚Šใ€้ชจ้ซ„ใซ้‰„ใ‚’ไพ›็ตฆใงใใšใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ใพใŸๅŒๆ™‚ใซใ€ๅˆฉ็”จใ•ใ‚Œใชใ‹ใฃใŸ้‰„ใŒๅ…จ่บซใฎ่‡“ๅ™จใธๆฒˆ็€ใ—ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚‚ใใŸใ™ใ€‚" @ja
dcterms:identifier2200250NANDO:2200617
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_30_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_05_006_01.pdf
rdfs:label - "Single ventricle" + "congenital atransferrinemia" @en
rdfs:label - "ๅ˜ๅฟƒๅฎค็—‡" + "ใ‚€ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01787http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1818
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_30_037/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01145
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_05_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100072http://nanbyodata.jp/ontology/NANDO_2100180
+ skos:altLabel + "Congenital atransferrinaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008846
skos:prefLabel - "ๅ˜ๅฟƒๅฎค็—‡" + "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + "ใ‹ใ‚“ใ‚Œใ„ใŽใ‚‡ใ†ใ—ใ‚…ใ†ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200251 +
http://nanbyodata.jp/ontology/NANDO_2200618 (rdf:type owl:Class @@ -108029,77 +163842,86 @@

hasNotificationNumber24hasNotificationNumber21
dcterms:description - "ไธ‰ๅฐ–ๅผๅฃใŒ็ญ‹ๆ€ง้–‰้Ž–ใ—ใฆๅฟƒๆˆฟใจๅณๅฟƒๅฎคใฎไบค้€šใŒ้ฎๆ–ญใ•ใ‚ŒใŸๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅณๅฟƒๆˆฟใธ้‚„ใฃใฆใใŸ้™่„ˆ่ก€ใฏๅ…จใฆๅฟƒๆˆฟ้–“ไบค้€šใ‚’้€šใ‚Šๅทฆๅฟƒๆˆฟใธๆตใ‚Œใ€ๆฉŸ่ƒฝ็š„ใชๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใฎๆœ‰็„กใจๅฟƒๅฎคๅคง่ก€็ฎกใฎ้–ขไฟ‚ใงๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใชใ„ใจ่‚บ้ซ˜่ก€ๅœงใจใชใ‚‹ใ€‚ใ™ใชใ‚ใกใ€Keith-Edwardsใฎๅˆ†้กžใงใฏโ… ๅž‹ใฏๆญฃๅธธๅคง่ก€็ฎก้–ขไฟ‚ใ€โ…กๅž‹ใฏdๅž‹ๅคง่ก€็ฎก่ปขๆ›ใฎใ‚‚ใฎใจใชใ‚Šใ€ใใ‚Œใžใ‚Œใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ‚’ไผดใ†ใ‚‚ใฎใŒaๅž‹ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒbๅž‹ใ€่‚บ้ซ˜่ก€ๅœงใซใชใ‚‹cๅž‹ใจๅˆ†้กžใ•ใ‚Œใ€็ต„ใฟๅˆใ‚ใ›ใงโ… ๏ฝ‚ใชใฉใจ่กจ็พใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใฎๅž‹ใ‚‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ใชใใ™ใซใฏใ€Fontanๆ‰‹่ก“ใ—ใ‹ใชใ„ใ€‚Fontanๆ‰‹่ก“ใŒๆˆ็ซ‹ใ™ใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅญ˜็Ž‡ใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€Fontanๆ‰‹่ก“๏ผ’๏ผๅนดไปฅไธŠ็ตŒ้Žใ™ใ‚‹ใจใ€ๆง˜ใ€…ใชFontan่ก“ๅพŒ็—‡ๅ€™็พคใŒ็™บ็—‡ใ—ใฆใ€้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200251NANDO:2200618
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_31_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_06_007_01.pdf
rdfs:label - "Tricuspid atresia" + "cold agglutinin disease" @en
rdfs:label - "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4313 + rdfs:label + "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01785http://nanbyodata.jp/ontology/NANDO_1200307
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_31_038/https://www.shouman.jp/disease/details/09_06_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100073http://nanbyodata.jp/ontology/NANDO_2100181
+ skos:altLabel + "CAD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011514http://purl.obolibrary.org/obo/MONDO_0018922
skos:prefLabel - "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡" + "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" @ja
- - + - - + + - + - + + "ใปใฃใ•ใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200252 +
http://nanbyodata.jp/ontology/NANDO_2200619 (rdf:type owl:Class @@ -108107,77 +163929,93 @@

hasNotificationNumber84hasNotificationNumber22
dcterms:description - "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ใ€‚ใ„ใ‚ใ‚†ใ‚‹ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใฎๅฝขๆ…‹ใจใชใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใชใ„ใ—ใฏไธป่ฆไฝ“่‚บๅดๅ‰ฏ่ก€็ฎก๏ผˆMAPCA๏ผ‰ใง่ณ„ใ‚ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใพใŸใฏใ€ไฝ“่‚บๅดๅ‰ฏ่ก€็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€ใใ‚Œใ‚‰ใฎ่ก€็ฎกใฎ้–‹ๅญ˜็Šถๆณใซใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฎ็จ‹ๅบฆใซๅทฎใŒใ‚ใ‚‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚„ๅดๅ‰ฏ่ก€็ฎกใซใ‚ˆใ‚‹้€ฃ็ถšๆ€งๅฟƒ้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚ๅง‘ๆฏ่ก“ใจใ—ใฆใ€็ดฐใ„่‚บๅ‹•่„ˆใซๅฏพใ—็Ÿญ็ตก่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚MAPCAใŒๅคšๆ•ฐๅญ˜ๅœจใ—ๅŒบๅŸŸ่‚บๅ‹•่„ˆใ‚’ไธญๅฟƒ่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๅ ดๅˆใซใฏuniforcalization:UFใ‚’ๅฎŸๆ–ฝใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฎๆˆ้•ทใ‚’ๅพ…ใฃใฆใ€ๅฐ†ๆฅ็š„ใซใฏๅฟƒๅ†…ไฟฎๅพฉ่ก“ใจๅณๅฎคๆตๅ‡บ่ทฏๅ†ๅปบ่ก“๏ผˆRastelliๆณ•๏ผ‰ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Rastelliๆ‰‹่ก“ๅพŒใ‚‚ใ€้ ้š”ๆœŸใซๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใฃใŸใ‚Šใ€ไธๆ•ด่„ˆใ‚„ๅฟƒๆฉŸ่ƒฝไธๅ…จใซใชใฃใŸใ‚Šใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200252NANDO:2200619
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_32_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_06_008_01.pdf
rdfs:label - "Pulmonary atresia with ventricular septal defect" + "Paroxysmal cold hemoglobinuria" @en
rdfs:label - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1324 + rdfs:label + "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01803http://nanbyodata.jp/ontology/NANDO_1200308
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_32_039/https://www.shouman.jp/disease/details/09_06_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100074http://nanbyodata.jp/ontology/NANDO_2100181
+ skos:altLabel + "PCH" + @en
+ skos:altLabel + "Paroxysmal cold haemoglobinuria" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008343http://purl.obolibrary.org/obo/MONDO_0019533
skos:prefLabel - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" + "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + "7ใŠใ‚ˆใณ8ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira - - - - - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200253 +
http://nanbyodata.jp/ontology/NANDO_2200620 (rdf:type owl:Class @@ -108185,77 +164023,76 @@

hasNotificationNumber85hasNotificationNumber23
dcterms:description - "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„็Šถๆ…‹ใ‚’ใ€็ด”ๅž‹่‚บๅ‹•่„ˆ้–‰้Ž–ใจๅ‘ผใถใ€‚้‡็—‡่‚บๅ‹•่„ˆ็‹ญ็ช„ใจๅŒๆง˜ใซๅณๅฎคไฝŽๅฝขๆˆใ‚’ไผดใ†ใ“ใจใŒๅคšใ„๏ผˆๅณๅฎคไฝŽๅฝขๆˆ็—‡ๅ€™็พค๏ผ‰ใ€‚็”Ÿๅญ˜ใซใฏๅฟƒๆˆฟ้–“ไบค้€šใŒๅฟ…้ ˆใงๅณๆˆฟ่ก€ใฏๅทฆๆˆฟใธ่ฟ‚ๅ›žใ™ใ‚‹ใ€‚ใพใŸใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ€‚ๅณๅฎคใจๅ† ๅ‹•่„ˆใŒไบค้€šใ—ใฆใ„ใ‚‹้กžๆดžไบค้€šใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚้กžๆดžไบค้€šใซไผดใฃใฆใ€ๅ† ๅ‹•่„ˆใŒ็‹ญ็ช„ใ—ใŸใ‚Š้€”ไธญใง้€”็ตถใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ใใฎๅ ดๅˆใ€ๅ† ๅ‹•่„ˆ่ก€ๆตใฏ้ซ˜ใ„ๅณๅฎคๅœงใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200253NANDO:2200620
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_32_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_06_009_01.pdf
rdfs:label - "Pulmonary atresia with intact ventricular septum" - @en
rdfs:label - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" + "7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2918
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01802 + rdfs:label + "Other autoimmune hemolytic anemia" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_32_040/https://www.shouman.jp/disease/details/09_06_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100074http://nanbyodata.jp/ontology/NANDO_2100181
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009931 + skos:altLabel + "Other autoimmune haemolytic anaemia" + @en
skos:prefLabel - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡" + "7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + "ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + "PNH" + @en + + + + - +
http://nanbyodata.jp/ontology/nando#2200254 +
http://nanbyodata.jp/ontology/NANDO_2200621 (rdf:type owl:Class @@ -108263,84 +164100,93 @@

hasNotificationNumber89hasNotificationNumber48
dcterms:description - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผˆtetralogy of Fallot๏ผ‰ใฎๅ››ๅพดใจใฏใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผˆVSD๏ผ‰ใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„๏ผˆPS๏ผ‰ใ€โ‘ขๅคงๅ‹•่„ˆ้จŽไน—ใ€โ‘ฃๅณๅฎค่‚ฅๅคงใ‚’ๆŒ‡ใ™ใ€‚็™บ็”Ÿๅญฆ็š„ใซใฏๅฟƒๅฎคไธญ้š”ใฎๆผๆ–—้ƒจใจใ„ใ†่‚บๅ‹•่„ˆใซ่ฟ‘ใ„้ƒจๅˆ†ใฎไธญ้š”ใŒๅ‰ๆ–น๏ผˆๅณๅฎคๅด๏ผ‰ใซๅไฝใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚ŠVSDใจPS๏ผˆๆญฃ็ขบใซ่จ€ใ†ใจๅณๅฎคใฎๆตๅ‡บ่ทฏ็‹ญ็ช„๏ผ‰ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใจใฎ้•ใ„ใฏใ€ๆœฌ็—‡ใงใฏๅƒงๅธฝๅผใจๅคงๅ‹•่„ˆๅผใฏ็ทš็ถญๆ€งใซ้€ฃ็ถšใ—ใฆใ„ใ‚‹็‚นใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅน…ๅบƒใ„่‡จๅบŠๅƒใ‚’็คบใ™ใŒใ€ไธๅฎ‰ๅฎšใ‹ใค้€ฒ่กŒๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใจใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅค–็ง‘ๆฒป็™‚ใชใ—ใงใฏ็”Ÿๅ‘ฝไบˆๅพŒใฏ1ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€3ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๆญปไบกๅŽŸๅ› ใจใ—ใฆใฏไฝŽ้…ธ็ด ็™บไฝœใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใงใ€ๅนด้•ทๅ…ใงใฏๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซๆ‰‹่ก“ไพ‹ใฎ้•ทๆœŸไบˆๅพŒใฏ่‰ฏๅฅฝใง่ก“ๅพŒ30ๅนดใฎ็”Ÿๅญ˜็Ž‡ใฏ98๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅ้™ใซใฏใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใงใ€ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใฃใŸใ‚Šใ€ๅฟƒไธๅ…จใซใชใฃใŸใ‚Šใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆparoxysmal nocturnal hemoglobinuria๏ผŒPNH๏ผ‰ใฏใ€PIG-A้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€๏ผˆใ‚ฏใƒผใƒ ใ‚น้™ฐๆ€ง๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆaplastic anemia๏ผŒAA๏ผ‰ใ‚’ไปฃ่กจใจใ™ใ‚‹ๅพŒๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏ็จ€ใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ใพใŸ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ‚‚ใ‚ใ‚‹1)ใ€‚" @ja
dcterms:identifier2200254NANDO:2200621
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_33_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_07_010_01.pdf
rdfs:label - "Tetralogy of Fallot" + "Paroxysmal nocturnal hemoglobinuria" @en
rdfs:label - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1513 + rdfs:label + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00549http://nanbyodata.jp/ontology/NANDO_1200311
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_33_041/https://www.shouman.jp/disease/details/09_07_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100075http://nanbyodata.jp/ontology/NANDO_2100182
skos:altLabel - "Fallotๅ››ๅพด็—‡" - @ja
+ skos:altLabel + "Paroxysmal nocturnal haemoglobinuria" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008542http://purl.obolibrary.org/obo/MONDO_0018641
skos:prefLabel - "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡" + "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "HS" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200255 +
http://nanbyodata.jp/ontology/NANDO_2200622 (rdf:type owl:Class @@ -108348,69 +164194,86 @@

hasNotificationNumber96hasNotificationNumber1
dcterms:description - "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ๅคงๅ‹•่„ˆใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใฏๅคงๅ‹•่„ˆใฎๅณๆจช๏ผˆside by side๏ผ‰ใ‹ๅณๅพŒ๏ผˆtrue Taussig Bing heart๏ผ‰ใฎใ“ใจใ‚„ใ€ๅณๅ‰๏ผˆfalse Taussig Bing heart๏ผ‰ใซใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡DORVใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฏๅฟƒๅฎคไธญ้š”ใซ้จŽไน—ใ—ใ€่‚บๅ‹•่„ˆๅผไธ‹ใซๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใฎโ…กๅž‹ใซ้กžไผผใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใจ่‚บๅ‹•่„ˆๅผไธ‹ใซconusใŒๅญ˜ๅœจใ™ใ‚‹๏ผˆdouble conus๏ผ‰ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅทฆๅฎคใฎ้ง†ๅ‡บ่ก€ใฏใ€็›ดๆŽฅ่‚บๅ‹•่„ˆใธ้ง†ๅ‡บใ•ใ‚Œใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅคง่ก€็ฎก่ปขๆ›ใจ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ‚„ใ™ใ„ใ€‚ๆ‰‹่ก“ใฏๅŸบๆœฌ็š„ใซใฏๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“๏ผˆJatene่ก“๏ผ‰ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ‰‹่ก“ใฎ้›ฃๆ˜“ๅบฆใฏ้ซ˜ใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" + "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200255NANDO:2200622
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_34_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_011_01.pdf
rdfs:label - "Taussig-Bing anomaly" + "hereditary spherocytosis" @en
rdfs:label - "ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข" + "ใ„ใงใ‚“ใ›ใ„ใใ‚…ใ†ใ˜ใ‚‡ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_34_042/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00230
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100076http://nanbyodata.jp/ontology/NANDO_2100183
skos:altLabel - "Taussig-Bingๅฅ‡ๅฝข" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019350
skos:prefLabel - "ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข" + "้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡" @ja
- - + - - + + - + - + + "ใ“ใ†ใ—ใ‚“ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200256 +
http://nanbyodata.jp/ontology/NANDO_2200623 (rdf:type owl:Class @@ -108418,82 +164281,79 @@

hasNotificationNumber97hasNotificationNumber4
dcterms:description - "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ใฒใจใคใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€ไป–ใฎใฒใจใคใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…จๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ็ด„1.5๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง้€ฃ็ถšใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆVSDใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใจๅคง่ก€็ฎก็›ธไบ’ใฎไฝ็ฝฎ้–ขไฟ‚ใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใฏโ‘ ๅคงๅ‹•่„ˆๅผไธ‹subaortic โ‘ก่‚บๅ‹•่„ˆๅผไธ‹subpulmonic โ‘ขไธกๅŠๆœˆๅผไธ‹doubly committed(โ‘ ๏ผ‹โ‘ก) โ‘ฃ้ ไฝๅž‹remote(non-committed)ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅคง่ก€็ฎก้–ขไฟ‚ใฏdๅž‹ใ€lๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚Taussig๏ผBingๅฅ‡ๅฝขใฏไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใฎไธญใงใ€ไธกๅคง่ก€็ฎกใŒside by sideใซใชใ‚‰ใณใ€่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใฎใŸใ‚ใซ่‚บๅ‹•่„ˆใŒไธญ้š”ใซ้จŽไน—ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไผดใ‚ใชใ„ๅž‹ใงใ€ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ๅž‹ใงใฏPHใฎ้€ฒ่กŒใŒ้€šๅธธใฎVSDใ‚ˆใ‚Š้€Ÿใ„ใฎใงไนณๅ…ๆœŸใฎไธ€ๆœŸ็š„ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆœ›ใพใ—ใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใ‚ใ‚‹ๅž‹ใงใฏใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจๅŒๆง˜ใซ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใŒใ‚ใ‚Œใฐ็Ÿญ็ตก่ก“ใชใฉใฎๅง‘ๆฏ่ก“ใฎๅพŒใซRastelliๆ‰‹่ก“ใŒๅฎŸๆ–ฝใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹DORVใงใฏๅคง่ก€็ฎก่ปขๆ›็—‡ใจๅŒๆง˜ใซๅคง่ก€็ฎกใ‚นใ‚ฃใƒƒใƒ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้ ไฝๅž‹VSDใงใฏFontanๅž‹ๆ‰‹่ก“ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไธ€่ˆฌใซใ€ๆœฌ็—‡ใฏ้‡็—‡ใงใ€่ก“ๅพŒใฎๅ•้กŒใŒ็™บ็”Ÿใ™ใ‚‹็Ž‡ใ‚‚้ซ˜ใใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200256NANDO:2200623
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_34_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_012_01.pdf
rdfs:label - "Double-outlet right ventricle" + "Hereditary stomatocytosis" @en
rdfs:label - "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1985 + rdfs:label + "ๅฃๅ”‡่ตค่ก€็ƒ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00918https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00232
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_34_043/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100076
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016581https://www.shouman.jp/disease/details/09_08_012/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100183
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018089http://purl.obolibrary.org/obo/MONDO_0020102
skos:prefLabel - "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡" + "ๅฃๅ”‡่ตค่ก€็ƒ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200257 +
http://nanbyodata.jp/ontology/NANDO_2200624 (rdf:type owl:Class @@ -108501,67 +164361,86 @@

hasNotificationNumber98hasNotificationNumber2
dcterms:description - "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใจใ‚‚ใซๅทฆๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏไธ‰ๅฐ–ๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏๅคงๅ‹•่„ˆๅผไธ‹ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ใใฎๅ ดๅˆใซใฏ่‚บ่ก€ๆตใŒๆธ›ๅฐ‘ใ—ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ไพ‹ใงใฏใ€่‚บ่ก€ๆตใฏๅข—ๅŠ ใ—ใฆ่‚บ้ซ˜่ก€ๅœงใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใซใฏRastelliๆ‰‹่ก“ใ€ๅณๅฎคๆตๅ‡บ่ทฏๅฝขๆˆ่ก“ใ€ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ€Fontanๅž‹ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ๆ‰‹่ก“ๅฝขๅผใซใ‚ˆใ‚‹ใŒใ€้‡็—‡ใช็–พๆ‚ฃใงใ€ไบˆๅพŒไธ่‰ฏใชใ“ใจใ‚‚ๅคšใ„ใ€‚" + "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€ๆœซๆขข่ก€ๆต้–‰ๅกžใซใ‚ˆใ‚‹็–ผ็—›็™บไฝœใ€ใใฎๅพŒ้บ็—‡ใจใ—ใฆๅคš่‡“ๅ™จ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200257NANDO:2200624
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_35_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_013_01.pdf
rdfs:label - "Double-outlet left ventricle" + "sickle cell disease" @en
rdfs:label - "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" + "ใ‹ใพใ˜ใ‚‡ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ŽŒ็Šถ่ตค่ก€็ƒ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_35_044/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4195
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100077http://nanbyodata.jp/ontology/NANDO_2100183
+ skos:altLabel + "SCD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018090http://purl.obolibrary.org/obo/MONDO_0011382
skos:prefLabel - "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡" + "้ŽŒ็Šถ่ตค่ก€็ƒ็—‡" @ja
- - + - - + + - + - + + "ใตใ‚ใ‚“ใฆใ„ใธใ‚‚ใใ‚ใณใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200258 +
http://nanbyodata.jp/ontology/NANDO_2200625 (rdf:type owl:Class @@ -108569,74 +164448,81 @@

hasNotificationNumber8hasNotificationNumber7
dcterms:description - "ๅณๅฟƒๆˆฟใจๅณๅฎคใ€ๅทฆๅฟƒๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹ใซๅˆ†้กžใ™ใ‚‹ใ€‚ไฝ“่ก€ๆตใฏ้…ธ็ด ้ฃฝๅ’ŒๅบฆใŒไฝŽใๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„ๅž‹ใงใฏ็‰นใซใƒใ‚ขใƒŽใƒผใ‚ผใŒ็›ฎ็ซ‹ใคใ€‚ๅฟƒๆˆฟ้–“ไบค้€šใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒ็”Ÿๅญ˜ใซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ† ็Šถๅ‹•่„ˆใฎ่ตฐ่กŒใซใ‚‚ๅคšใใฎๅž‹ใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ๆ™‚ใซใฏ้‡่ฆใชๆ‰€่ฆ‹ใจใชใ‚‹ใ€‚ๆฒป็™‚ไป‹ๅ…ฅใชใ—ใงใฏ1ใƒถๆœˆใง50๏ผ…ใŒใ€6ใƒถๆœˆใง85๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚่‡ช็„ถๆญดใงใฏIๅž‹ใŒๆœ€ใ‚‚ไบˆๅพŒไธ่‰ฏใง1ใƒถๆœˆใงไฝŽ้…ธ็ด ใฎใŸใ‚80๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚IIๅž‹ใงใฏ1ใƒถๆœˆใง10๏ผ…ๆญปไบกใ—ใ€IIIๅž‹ใฎ่‡ช็„ถๆญดใŒๆœ€ใ‚‚ใ‚ˆใ„ใ€‚Iๅž‹ใ€IIๅž‹ใงๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“ใฎ้ ้š”ๆœŸใฎไบˆๅพŒใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ€ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbใฎใ‚ฐใƒญใƒ“ใƒณ้Ž–ใ‚ขใƒŸใƒŽ้…ธๅค‰็•ฐใซใ‚ˆใ‚ŠHbใฎๅฎ‰ๅฎšๆ€งใŒๅคฑใ‚ใ‚Œ๏ผŒ้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใŒๆธ›ๅผฑใ—ใฆๆ…ขๆ€งๆบถ่ก€ใ‚„ไธ€้Žๆ€งใฎๆบถ่ก€็™บไฝœใ‚’่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200258NANDO:2200625
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_36_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_014_01.pdf
rdfs:label - "Complete transposition of the great arteries" + "Unstable hemoglobin disease" @en
rdfs:label - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00550 + rdfs:label + "ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_36_045/https://www.shouman.jp/disease/details/09_08_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100078http://nanbyodata.jp/ontology/NANDO_2100183
skos:altLabel - "complete tga" + "Unstable haemoglobin disease" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020459
skos:prefLabel - "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡" + "ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200259 +
http://nanbyodata.jp/ontology/NANDO_2200626 (rdf:type owl:Class @@ -108644,67 +164530,86 @@

hasNotificationNumber52hasNotificationNumber5
dcterms:description - "ๅณๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใซใคใชใŒใ‚Šใใฎๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—๏ผŒๅทฆๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใซใคใชใŒ ใ‚Šใใฎๅณๅฎคใ‹ใ‚‰ ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ ใ€‚ๅฟƒๅ†…ใซไป–ใฎๅฅ‡ๅฝขใŒใชใ„ๅ ดๅˆ๏ผŒ้™่„ˆ่ก€ ใฏ่‚บๅ‹•่„ˆใธ๏ผŒ่‚บ้™่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ ใ€‚ใ—ใ‹ใ—๏ผŒๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹ ่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใ ๏ผŒใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡ ็Šถใ‚’ๅ‘ˆใ™ใ‚‹ ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น ็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚๏ผŒๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚" + "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚" @ja
dcterms:identifier2200259NANDO:2200626
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_37_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_015_01.pdf
rdfs:label - "Congenitally corrected transposition of the great arteries" + "Thalassemia" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ•ใ‚‰ใ›ใฟใ‚" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_37_046/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00228
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100079http://nanbyodata.jp/ontology/NANDO_2100183
+ skos:altLabel + "Thalassaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016301http://purl.obolibrary.org/obo/MONDO_0000984
skos:prefLabel - "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡" + "ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" @ja
- - + - + - + - + + "ใใ‚‹ใ“ใƒผใ™6ใ‚Šใ‚“ใ•ใ‚“ใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200260 +
http://nanbyodata.jp/ontology/NANDO_2200627 (rdf:type owl:Class @@ -108712,74 +164617,74 @@

hasNotificationNumberhasNotificationNumber 3
dcterms:description - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใฏใ€ไธ‰ๅฐ–ๅผใจๅณๅฎคๆตๅ…ฅ้ƒจใฎๅฅ‡ๅฝขใงใ€ไธ‰ๅฐ–ๅผใŒๅค‰ๅฝขใ—ใ€ใ‹ใคๅณๅฎคๅ†…ใซใšใ‚Œใฆ่ตทๅง‹ใ—ใ€ใใฎ้ƒจๅˆ†ใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅฝขๆˆไธๅ…จใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅณๅฎคๆฉŸ่ƒฝไธๅ…จใจไธ‰ๅฐ–ๅผๆฉŸ่ƒฝไธๅ…จใŒๅฟ…็™บใงใ€ไธ‰ๅฐ–ๅผ็‹ญ็ช„ใ‚„้–‰้Ž–ไธๅ…จใ‚’็จฎใ€…ใฎ็จ‹ๅบฆใซ่ชใ‚ใ‚‹ใ€‚" + "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚" @ja
dcterms:identifier2200260NANDO:2200627
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_38_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_016_01.pdf
rdfs:label - "Ebsteinโ€™s anomaly" + "Glucose-6-phosphate dehydrogenase deficiency" @en
rdfs:label - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01783 + rdfs:label + "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_38_047/https://www.shouman.jp/disease/details/09_08_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100080http://nanbyodata.jp/ontology/NANDO_2100183
- skos:altLabel - "Ebstein็—…" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005775
skos:prefLabel - "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…" + "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡" @ja
- - + - - + + - + - + + "ใดใ‚‹ใณใ‚“ใ•ใ‚“ใใชใƒผใœใ‘ใคใผใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200261 +
http://nanbyodata.jp/ontology/NANDO_2200628 (rdf:type owl:Class @@ -108787,77 +164692,86 @@

hasNotificationNumber54hasNotificationNumber6
dcterms:description - "็ทๅ‹•่„ˆๅนน้บๆฎ‹ใฏใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ใฎ่ก€ๆถฒใ‚’ๅ˜ไธ€ใฎๅคง่ก€็ฎกใŒๅ—ใ‘ใ€ใ“ใ‚Œใ‚ˆใ‚Šๅ† ๅ‹•่„ˆใ€่‚บใŠใ‚ˆใณ็ณป็ตฑๅพช็’ฐใซ็›ดๆŽฅ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ใพใ‚Œใชๅฟƒๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใพใŸใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จๆฒป็™‚ใ€ๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใจใ—ใฆใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซRastelliๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่ก“ๅพŒ้ ้š”ๆœŸใซๅฐŽ็ฎก็‹ญ็ช„ใŒ็™บ็”Ÿใ—ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚" + "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚" @ja
dcterms:identifier2200261NANDO:2200628
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_39_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_017_01.pdf
rdfs:label - "Truncus arteriosus communis" + "Hemolytic anemia due to red cell pyruvate kinase deficiency" @en
rdfs:label - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1985 + rdfs:label + "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01736http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2937
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_39_048/https://www.shouman.jp/disease/details/09_08_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100081http://nanbyodata.jp/ontology/NANDO_2100183
+ skos:altLabel + "Hemolytic anaemia due to red cell pyruvate kinase deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016581http://purl.obolibrary.org/obo/MONDO_0009950
skos:prefLabel - "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡" + "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + "11ใ‹ใ‚‰17ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ„ใงใ‚“ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200262 +
http://nanbyodata.jp/ontology/NANDO_2200629 (rdf:type owl:Class @@ -108865,67 +164779,76 @@

hasNotificationNumber63hasNotificationNumber8
dcterms:description - "ไธŠ่กŒๅคงๅ‹•่„ˆใฎๅทฆๅดใจ่‚บๅ‹•่„ˆใฎๅณๅดใจใฎ้–“ใซ็ดข็Šถใ‚ใ‚‹ใ„ใฏ็ช“็Šถใฎไบค้€šใŒใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎไบค้€šๅญ”ใ‚’ไป‹ใ—ใฆใ€ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธ็Ÿญ็ตกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€1830ๅนดใซๅˆใ‚ใฆElliotsonใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€1952ๅนดใซใฏGrossใŒๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ—ใŸใ€‚ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎๅŠๆœˆๅผใŒ่งฃๅ‰–ๅญฆ็š„ใซใ‚‚ๆฉŸ่ƒฝ็š„ใซใ‚‚ๅฎŒๅ…จใซๅˆ†้›ขใ—ใฆใ„ใ‚‹ใ€‚Conus septumใŒๅญ˜ๅœจใ—ใ€็ทๅ‹•่„ˆ็ฎกๆฎ‹้บ็—‡ใจใฏ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ไบค้€šๅญ”ใฎไฝ็ฝฎใ‹ใ‚‰typeI๏ผš่ฟ‘ไฝๆฌ ๆๅž‹ใ€typeII๏ผš้ ไฝๆฌ ๆๅž‹ใ€typeIII๏ผšๅ…จๆฌ ๆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ด„ๅŠๆ•ฐใฎไพ‹ใŒใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ็—‡ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใ€Fallotๅ››ๅพด็—‡ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅฟƒไธๅ…จใซๅฏพใ—ใฆๅˆฉๅฐฟ่–ฌใจ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’ไธญๅฟƒใซใ—ใŸๅ†…็ง‘ๆฒป็™‚ใ‚’่กŒใ„ใ€ๆ‰‹่ก“ใพใงใฎ้–“ๅ…จ่บซ็Šถๆ…‹ใฎๆ”นๅ–„ใซๅŠชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใปใจใ‚“ใฉใฎไพ‹ใฏๅฟƒไธๅ…จใŒๅผทใใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใฎๆ‰‹่ก“ๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + "ไปฅไธ‹ใฎๆง˜ใช็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸ๏ผˆ่ƒŽๅ…ๆœŸ๏ผ‰ใฎๆบถ่ก€ๆ€ง่ฒง่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€็„ก็—‡็Šถใซ็ตŒ้Žใ™ใ‚‹ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚่ฉณ็ดฐใฏๆˆๆ›ธ๏ผˆNathan & Oski's Hematology of Infancy and Childhood, Saunders ๏ผ‰ใ‚’ๅ‚็…งใ€‚้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ Hereditary elliptocytosisใ€Hereditaryใ€€pyropoikilocytosis,Classic hereditary XerocytosisSomatocytic XerocytosisXerocytosis with high phosphatiylcholine hemolytic anemiaHemoglobin C disease" @ja
dcterms:identifier2200262NANDO:2200629
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_40_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label - "Aorto-pulmonary window" - @en
rdfs:label - "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“" + "11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
+ rdfs:label + "Other hereditary hemolytic anemia" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_40_049/https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100082http://nanbyodata.jp/ontology/NANDO_2100183
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021902 + skos:altLabel + "Other hereditary haemolytic anaemia" + @en
skos:prefLabel - "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“" + "11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200263 +
http://nanbyodata.jp/ontology/NANDO_2200630 (rdf:type owl:Class @@ -108933,67 +164856,72 @@

hasNotificationNumber23
- dcterms:description - "ไธ‰ๅฟƒๆˆฟๅฟƒใฏใ€้€šๅธธใฏๅทฆๆˆฟๆ€งไธ‰ๅฟƒๆˆฟๅฟƒcor triatriatumใ‚’ๆŒ‡ใ—ใ€ๅทฆๆˆฟใŒใ€็•ฐๅธธ้š”ๅฃใซใ‚ˆใฃใฆ่‚บ้™่„ˆใฎ้‚„ๆตใ™ใ‚‹ๅ‰ฏๅฎคaccessory chamberใจๅทฆๅฟƒ่€ณใจๅƒงๆˆฟๅผๅฃใ‚’ๅซใ‚€ๅ›บๆœ‰ใฎๅทฆๆˆฟใจใซๅˆ†ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏๅฎคใจๅ›บๆœ‰ๅทฆๆˆฟใจใฏ็‹ญใ„้–‹ๅฃ้ƒจใ‚’้€šใ˜ใฆ้€ฃ็ตกใ—ใฆใ„ใ‚‹ใ‹ใ€ๅ‰ฏๅฎคใŒๅณๆˆฟใจ็›ดๆŽฅ้€ฃ็ตกใ—ใŸใ‚Šใ€ๅˆฅใฎ็•ฐๅธธใช็ตŒ่ทฏใ‚’้€šใ˜ใฆๅทฆๆˆฟใจ้€ฃ็ตกใ™ใ‚‹ใ€‚็—…ๅž‹ๅˆ†้กžใฏLucas-Schmidtใฎใ‚‚ใฎใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Šใ€IAๅž‹๏ผˆclassic type๏ผ‰ใŒๆœ€ใ‚‚ๅคšใใ€ใคใ„ใงIB1ๅž‹ใŒๅคšใ„ใ€‚ๅค–็ง‘ๆฒป็™‚ใฏ่จบๆ–ญใŒใคใ„ใฆๅ‘ผๅธ็Šถๆ…‹ใŒๅฎ‰ๅฎšใ—ๆฌก็ฌฌ่กŒใ†ในใใงใ€้š”ๅฃใฎๅˆ‡้™คใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200263NANDO:2200630
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_41_050_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label - "Cor triatriatum" + "Hereditary elliptocytosis" @en
rdfs:label - "ไธ‰ๅฟƒๆˆฟๅฟƒ" + "ใ„ใงใ‚“ใ›ใ„ใ ใˆใ‚“ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_41_050/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00231
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100083http://nanbyodata.jp/ontology/NANDO_2200629
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015450http://purl.obolibrary.org/obo/MONDO_0017319
skos:prefLabel - "ไธ‰ๅฟƒๆˆฟๅฟƒ" + "้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200264 +
http://nanbyodata.jp/ontology/NANDO_2200631 (rdf:type owl:Class @@ -109001,72 +164929,77 @@

hasNotificationNumber73
- dcterms:description - "่ƒŽๅ…ๆœŸใซ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ๅ‹•่„ˆ็ฎก๏ผˆๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆ้–“ใซๅญ˜ๅœจใ™ใ‚‹่ก€็ฎก๏ผ‰ใŒใ€ๅ‡บ็”ŸๅพŒใ‚‚่‡ช็„ถ้–‰้Ž–ใ›ใš้–‹ๅญ˜็Šถๆ…‹ใ‚’็ถญๆŒใ—ใŸ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ็Ÿญ็ตกใŒ็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตก้‡ใฏ็ฎกใฎๅคงใใ•ใซใ‚ˆใ‚Šใ€ๅคงใใ„ใจๅทฆๅฟƒ็ณปใฎๅฎน้‡่ฒ ่ทใซใชใ‚‹ใ€‚็ดฐใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒๅฟƒไธๅ…จใ‚’่ตทใ“ใ™ใ“ใจใฏใชใ„ใŒใ€็ดฐ่Œๆ€งๅฟƒๅ†…่†œ็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บใฏใ‚ใ‚‹ใ€‚ๅคชใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸใซๅฟƒไธๅ…จใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใพใŸ่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏ็‚Žใชใฉใ‚‚ๅคšใ„ใ€‚4-5ๆญณไปฅๅพŒใซใฏๆฌก็ฌฌใซEisenmengerๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฎ็ตŒ้Žใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้–‰้Ž–ๆ “(Amplatzer Duct Occluder)ใ‚’็”จใ„ใŸใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปๆตใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200264NANDO:2200631
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_42_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label - "Patent ductus arteriosus" + "Hereditary pyropoikilocytosis" @en
rdfs:label - "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" + "ใ„ใงใ‚“ใ›ใ„ใญใคใธใ‚“ใ‘ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01630http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2935
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_42_051/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01125
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100084http://nanbyodata.jp/ontology/NANDO_2200629
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011827http://purl.obolibrary.org/obo/MONDO_0009948
skos:prefLabel - "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡" + "้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡" @ja
- - + - - - - - - + + - + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200265 +
http://nanbyodata.jp/ontology/NANDO_2200632 (rdf:type owl:Class @@ -109074,62 +165007,67 @@

hasNotificationNumber49
- dcterms:description - "ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใ€ๅณๅฟƒๆˆฟใจๅทฆๅฟƒๆˆฟใฎ้–“ใซ้š”ๅฃใŒๅญ˜ๅœจใ—ใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็™บ็”Ÿๆฎต้šŽใงๅฟƒๆˆฟไธญ้š”ใฎๅฝขๆˆใŒใงใใชใ‹ใฃใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฎ่‘—ใ—ใ„ๅข—ๅŠ ใ‹ใ‚‰ใ€ๅฟƒไธๅ…จ็—‡็ŠถใŒๅนผๅ…ๆœŸใซใ€ใ‚ˆใ‚Š้‡็—‡ใซๅ‡บ็พใ—ใฆใใ‚‹ใ€‚็—‡็ŠถใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ไพ‹ใฏใ€ๆ—ฉๆœŸใซใƒ‘ใƒƒใƒ็ธซ็€ใซใ‚ˆใ‚‹ๅฟƒๆˆฟไธญ้š”ๅฝขๆˆ่ก“ใ‚’่กŒใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200265NANDO:2200632
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label - "Common atrium" + "Classic hereditary Xerocytosis" @en
rdfs:label - "ๅ˜ๅฟƒๆˆฟ็—‡" + "Classic hereditary Xerocytosis" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_43_052/https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100085http://nanbyodata.jp/ontology/NANDO_2200629
+ skos:altLabel + "ๅคๅ…ธ็š„้บไผๆ€งไนพ็‡ฅ่ตค่ก€็ƒ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017910
skos:prefLabel - "ๅ˜ๅฟƒๆˆฟ็—‡" + "Classic hereditary Xerocytosis" @ja
- - + - - - - - - + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200266 +
http://nanbyodata.jp/ontology/NANDO_2200633 (rdf:type owl:Class @@ -109137,67 +165075,60 @@

hasNotificationNumber50
- dcterms:description - "ๅฟƒๆˆฟไธญ้š”ใฎๆฌ ๆใ‚’่ชใ‚ใ‚‹ใ€‚ๆฌ ๆใฏๅฟƒๆˆฟไธญ้š”ๅตๅ††็ชฉใ‚’ๅฐ‘ใชใใจใ‚‚ไธ€้ƒจๅซใ‚“ใงใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐๅ…ๆœŸใฏ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅฟƒ้›‘้Ÿณใ‚„ๅฟƒ้›ปๅ›ณ็•ฐๅธธใชใฉใงๅฅ่จบๆ™‚ใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ—ใ‹ใ—ๅŠ ้ฝขใจใจใ‚‚ใซๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ‚„่‚บ้ซ˜่ก€ๅœงใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บไฝ“่ก€ๆตๆฏ”ใŒ1.5ไปฅไธŠใ‹ใ€ๅฟƒใ‚จใ‚ณใƒผใงๅณๅฎคใฎๅฎน้‡่ฒ ่ทใ‚’่ชใ‚ใ‚‹ใจใใ€ๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฏใ€ใŠใŠใ‚€ใญไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใŒๅผทใ„ใจใ€ไบˆๅพŒใŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅ‰ใซๅฟƒๆˆฟ็ดฐๅ‹•ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๆดžๆฉŸ่ƒฝไธๅ…จใ‚„ๅฟƒๆˆฟๆ€งไธๆ•ด่„ˆใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200266NANDO:2200633
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_053_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label - "Atrial septal defect, ostium secundum type" + "Stomatocytic Xerocytosis" @en
rdfs:label - "ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + "Stomatocytic Xerocytosis" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_43_053/https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100085http://nanbyodata.jp/ontology/NANDO_2200629
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020434http://purl.obolibrary.org/obo/MONDO_0017910
skos:prefLabel - "ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + "Stomatocytic Xerocytosis" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200267 +
http://nanbyodata.jp/ontology/NANDO_2200634 (rdf:type owl:Class @@ -109205,67 +165136,86 @@

hasNotificationNumber48
- dcterms:description - "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฏๅทฆๅณๅฟƒๆˆฟใ‚’้š”ใฆใฆใ„ใ‚‹ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ‚’่จ€ใ†ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฎใ†ใกใ€ๅตๅ††็ชฉใ‚’ๅซใพใชใ„ๆฌ ๆใงใ€ไธŠๅคง้™่„ˆใ‹ไธ‹ๅคง้™่„ˆใซ่ฟ‘ใ„้ƒจไฝใฎๆฌ ๆใ€‚้™่„ˆๆดžๅž‹ใฏไธŠๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธŠไฝๆฌ ๆๅž‹ใ€ไธ‹ๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธ‹ๅคง้™่„ˆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ’๏ผš๏ผ‘ใงๅฅณๆ€งใซๅคšใใ€ๅฐๅ…ๆœŸใ‚„่‹ฅๅนดๆˆไบบใงใฏๆฏ”่ผƒ็š„ไบˆๅพŒใฎ่‰ฏใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใ€็‰นใซๅณ่‚บ้™่„ˆใŒๅณๅฟƒๆˆฟใซ้‚„ๆตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎๅ ดๅˆใซใฏๆ‰‹่ก“ใŒ้›ฃใ—ใใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200267NANDO:2200634
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_054_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label - "Atrial septal defect, sinus venosus type" + "Xerocytosis with high phosphatidylcholine hemolytic anemia" @en
rdfs:label - "้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + "ใ„ใงใ‚“ใ›ใ„ใ“ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใพใใปใ™ใตใใกใ˜ใ‚‹ใ“ใ‚Šใ‚“ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง้ซ˜่ตค่ก€็ƒ่†œใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_43_054/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1345
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100085http://nanbyodata.jp/ontology/NANDO_2200629
+ skos:altLabel + "HPCHA" + @en
+ skos:altLabel + "Xerocytosis with high phosphatidylcholine haemolytic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020436http://purl.obolibrary.org/obo/MONDO_0008367
skos:prefLabel - "้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡" + "้บไผๆ€ง้ซ˜่ตค่ก€็ƒ่†œใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + + + + - + - + + "Haemoglobin C disease" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200268 +
http://nanbyodata.jp/ontology/NANDO_2200635 (rdf:type owl:Class @@ -109273,69 +165223,74 @@

hasNotificationNumber51
- dcterms:description - "ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใฏๅฎŒๅ…จๅž‹ใจไธๅฎŒๅ…จๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใงใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใใ€ไธ‰ๅฐ–ๅผใจๅƒงๅธฝๅผใฏใŠใฎใŠใฎ็‹ฌ็ซ‹ใ—ใฆๅฝขๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ใฎ๏ผ‘ๆฌกไธญ้š”ใฎๆฌ ๆใŒใ‚ใ‚‹ใ€‚ๅƒงๅธฝๅผใซ่ฃ‚้š™cleftใ‚’่ชใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅŸบๆœฌ็š„ใซใฏๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใจๅŒๆง˜ใง,ใ€€ๅฟƒๆˆฟใงใฎๅทฆๅณ็Ÿญ็ตกใซใ‚ˆใ‚‹ๅณๅฎคๅฎน้‡่ฒ ่ทใจ่‚บ่ก€ๆตๅข—ๅŠ ใ‚’็คบใ™ใ€‚ๅŠ ้ฝขใซใ‚ˆใ‚Šๅฟƒๆˆฟ้–“ใฎๅทฆๅณ็Ÿญ็ตกใซๅŠ ใˆใ€ๆˆฟๅฎคๅผ้€†ๆตใ€็‰นใซๅƒงๅธฝๅผ้€†ๆตใฎๅข—ๆ‚ชใซใ‚ˆใ‚Šๅฟƒไธๅ…จ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ใฏๅฟƒไธๅ…จใฎ้€ฒ่กŒใŒใชใ‘ใ‚Œใฐ,ๅฐๅ…ๆœŸใพใงใซใƒ‘ใƒƒใƒใซใ‚ˆใ‚‹ไธ€ๆฌกๅฃ้–‰้Ž–ใจcleftใฎไฟฎๅพฉใ‚’่กŒใ†ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200268NANDO:2200635
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_43_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label - "Incomplete atrioventricular septal defect" + "Hemoglobin C disease" @en
rdfs:label - "ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + "ใธใ‚‚ใใ‚ใณใ‚“ใ—ใƒผใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_43_055/https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100085http://nanbyodata.jp/ontology/NANDO_2200629
skos:altLabel - "ไธๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016242
skos:prefLabel - "ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + "ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡" @ja
- - + - - + + - + - + + + + + - + - + + "Haemolytic anaemia" + @en - +
http://nanbyodata.jp/ontology/nando#2200269 +
http://nanbyodata.jp/ontology/NANDO_2200636 (rdf:type owl:Class @@ -109343,74 +165298,81 @@

hasNotificationNumber7hasNotificationNumber52
dcterms:description - "่ƒŽ็”ŸๆœŸใฎๅฟƒๅ†…่†œๅบŠๅฝขๆˆ็™’ๅˆไธๅ…จใซใ‚ˆใ‚Šๅฟƒๆˆฟไธญ้š”ไธ€ๆฌกๅญ”ๆฌ ๆใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ„ใ€ๅ…ฑ้€šๆˆฟๅฎคๅผๅฃใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅ…ฑ้€šๅ‰ๅฐ–ใฎๅฝขๆ…‹ใซใ‚ˆใ‚Šใ€A, B, Cใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œ(Rastelliๅˆ†้กž)ใ€Aๅž‹ใงใฏๅ…ฑ้€šๅ‰ๅฐ–ใŒๅณๅฎคๅดใซๅ…ฅใ‚‰ใšใ€่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใ‚„ๅ††้Œ้ƒจไนณ้ ญ็ญ‹ใซ็ตๅˆใ€Bๅž‹ใฏ่…ฑ็ดขใŒๅณๅฎคๅฟƒๅฐ–้ƒจใฎไนณ้ ญ็ญ‹ใจ็ตๅˆใ€Cๅž‹ใฏๅ…ฑ้€šๅ‰ๅฐ–ใฎ่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใจ็ตๅˆใ›ใšใ€ๅณๅฎคไนณ้ ญ็ญ‹ใซ็ตๅˆใ™ใ‚‹(free-floating)ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏๅฟƒๆˆฟไฝใจๅฟƒๅฎคไฝใซใŠใ‘ใ‚‹ๅทฆๅณ็Ÿญ็ตกใจๆˆฟๅฎคๅผใฎๅฝขๆ…‹็•ฐๅธธใซๅŸบใฅใ็จฎใ€…ใฎ็จ‹ๅบฆใฎๆˆฟๅฎคๅผ้–‰้Ž–ไธๅ…จใงใ‚ใ‚Šใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅคงใใชๅ ดๅˆใซใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšๆฑ—ใ€ๅคšๅ‘ผๅธใ€ๅ“บไนณไธ่‰ฏใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏ็ญ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใซtwo-patchๆณ•ใพใŸใฏone-patchๆณ•ใซใ‚ˆใ‚‹ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚" + "่„พๆฉŸ่ƒฝไบข้€ฒใซใ‚ˆใ‚Šใ€่ตค่ก€็ƒ็ ดๅฃŠใฎไบข้€ฒใ‚„ๆ•ๆ‰ใƒป่ฒฏ่”ต่ƒฝใฎๅข—ๅคงใŒ่ตทใ“ใ‚Š่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€โ‘ ๏ผ‘็ณป็ตฑไปฅไธŠใฎ่ก€็ƒๆธ›ๅฐ‘ใ€โ‘ก่ก€็ƒๆธ›ๅฐ‘ใซๅฏพๅฟœใ—ใŸ้ชจ้ซ„้Žๅฝขๆˆใ€โ‘ข่„พ่…ซใ€โ‘ฃ่„พๆ‘˜ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใฎๆ”นๅ–„ใ€ใฎ4้ …็›ฎใ™ในใฆใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆDameshek๏ผ‰ใ€‚" @ja
dcterms:identifier2200269NANDO:2200636
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_44_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_09_019_01.pdf
rdfs:label - "Complete atrioventricular septal defect" + "Hemolytic anemia" @en
rdfs:label - "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + "ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_44_056/https://www.shouman.jp/disease/details/09_09_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100086http://nanbyodata.jp/ontology/NANDO_2100184
skos:altLabel - "ๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015273http://purl.obolibrary.org/obo/MONDO_0003664
skos:prefLabel - "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡" + "ๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + "ใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200270 +
http://nanbyodata.jp/ontology/NANDO_2200637 (rdf:type owl:Class @@ -109418,72 +165380,67 @@

hasNotificationNumber31
- dcterms:description - "ๅทฆๅณใฎๅฟƒๅฎคใฎ้–“ใฎๅฃใงใ‚ใ‚‹ๅฟƒๅฎคไธญ้š”ใซๅญ”ใฎใ‚ใ„ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฏ่†œๆง˜้ƒจไธญ้š”ใจ็ญ‹ๆ€ง้ƒจไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€็ญ‹ๆ€ง้ƒจไธญ้š”ใฏๆ›ดใซๆตๅ…ฅ่ทฏไธญ้š”ใ€่‚‰ๆŸฑ้ƒจไธญ้š”ใ€ใŠใ‚ˆใณๆตๅ‡บ่ทฏ๏ผˆๆผๆ–—้ƒจ๏ผ‰ไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้ƒจไฝใซๆฌ ๆๅญ”ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆฌ ๆๅญ”ใฎๅคงใใ•ใ€ไฝ็ฝฎใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆ–น้‡ใŒ็•ฐใชใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใฎๅˆไฝตใŒใชใใ€ๅทฆๅณ็Ÿญ็ตกใŒๅฐ‘ใชใ„ไพ‹ใงใฏๅŽŸๅ‰‡ใจใ—ใฆๅค–็ง‘ๆฒป็™‚ใฎ้ฉๅฟœใฏใชใใ€ๆ„ŸๆŸ“ๆ€งๅฟƒๅ†…่†œ็‚Žใซๆณจๆ„ใ—ใชใŒใ‚‰็ตŒ้Ž่ฆณๅฏŸใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅตŒๅ…ฅ้€ธ่„ฑใ‚’ใจใ‚‚ใชใ†ไพ‹ใงใฏๅฐ็Ÿญ็ตกใงใ‚ใฃใฆใ‚‚ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅคšๅ‘ผๅธใ€ๅ“บไนณ้šœๅฎณใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๆฐ—้“ๆ„ŸๆŸ“ใฎๅๅพฉใชใฉใฎ็—‡็ŠถใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๅ†…็ง‘ๆฒป็™‚ใจๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใŸไพ‹ใงใฏ็—‡็ŠถใŒ่ปฝๅพฎใงใ‚ใฃใฆใ‚‚6ใ‚ซๆœˆไปฅๅ†…ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใŒใชใใจใ‚‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅทฆๅฎคๅฎน้‡่ฒ ่ทๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏๅฐฑๅญฆๅ‰ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber52
dcterms:identifier2200270NANDO:2200637
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_45_057_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_09_019_01.pdf
rdfs:label - "Ventricular septal defect" + "hypersplenism" @en
rdfs:label - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01926 + rdfs:label + "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_45_057/https://www.shouman.jp/disease/details/09_09_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100087http://nanbyodata.jp/ontology/NANDO_2200636
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002070http://purl.obolibrary.org/obo/MONDO_0006795
skos:prefLabel - "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡" + "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200271 +
http://nanbyodata.jp/ontology/NANDO_2200638 (rdf:type owl:Class @@ -109491,62 +165448,83 @@

hasNotificationNumber77hasNotificationNumber47
dcterms:description - "ใ™ในใฆใฎ่‚บ้™่„ˆใ‹ใ‚™ๅทฆๆˆฟใจไบค้€šใ‚’ๅคฑใ„,็›ดๆŽฅๅณๆˆฟใพใŸใฏไฝ“้™่„ˆใจไบค้€šใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใŒ้‚„ๆตใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ใค๏ผˆIๅž‹๏ผšไธŠๅฟƒ่‡“ๅž‹ใ€IIๅž‹๏ผšๅฟƒ่‡“ๅž‹ใ€IIIๅž‹๏ผšไธ‹ๅฟƒ่‡“ๅž‹ใ€IV๏ผšๆททๅˆๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บใ†ใฃ่ก€ใซไผดใ†้‡ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใจๅคšๅ‘ผๅธใ‚’่ชใ‚ใ€็”ŸๅพŒๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฎๅŸบๆœฌใฏๅค–็ง‘ๆฒป็™‚ใงใ€่จบๆ–ญใŒใคใๆฌก็ฌฌใ€ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใฎๆˆ็ธพใฏไธ€่ˆฌใซๅ‘ไธŠใ—ใฆใŠใ‚Šใ€ๆ—ฉๆœŸๆญปไบกใฏ2-15%ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ90%ใงใ‚ใ‚‹ใ€‚็ด„10๏ผ…ใซ่ก“ๅพŒ่‚บ้™่„ˆ็‹ญ็ช„ใŒ็”Ÿใ˜ไบˆๅพŒไธ่‰ฏใฎ่ฆๅ› ใจใชใ‚‹ใ€‚" + "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ" @ja
dcterms:identifier2200271NANDO:2200638
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_46_058_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label - "Total anomalous pulmonary venous connection" + "Microangiopathic hemolytic anemia" @en
rdfs:label - "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + "ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_46_058/https://www.shouman.jp/disease/details/09_10_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100088http://nanbyodata.jp/ontology/NANDO_2100185
+ skos:altLabel + "MAHA" + @en
+ skos:altLabel + "Microangiopathic haemolytic anaemia" + @en
skos:prefLabel - "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200272 +
http://nanbyodata.jp/ontology/NANDO_2200639 (rdf:type owl:Class @@ -109554,67 +165532,86 @@

hasNotificationNumber78hasNotificationNumber47
dcterms:description - "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฏ,4ๆœฌใฎ่‚บ้™่„ˆใฎใ†ใก1ใ€œ3ๆœฌใ‹ใ‚™ไฝ“้™่„ˆ็ณปใซ็•ฐๅธธ้‚„ๆตใ™ใ‚‹็–พๆ‚ฃใฆใ‚™ใ‚ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่ƒŽ็”Ÿๆ—ฉๆœŸใซๅ…ฑ้€š่‚บ้™่„ˆใฎไธ€้ƒจใŒ้–‰้Ž–ใ—ใ€ไฝ“้™่„ˆ็ณปใจไบค้€šใ‚’ๆฎ‹ใ™ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใฎๅฟƒๅ†…ไฟฎๅพฉๆ‰‹่ก“ๆ™‚ใซใ€ไธ€็ท’ใซๆฒป็™‚ใ™ใ‚‹ใ€‚" + "ๅฟ—่ณ€ๆฏ’็ด ๏ผˆShiga toxin: STX๏ผŒใƒ™ใƒญๆฏ’็ด  Vero toxin: VTใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’็”ฃ็”Ÿใ™ใ‚‹่…ธ็ฎกๅ‡บ่ก€ๆ€งๅคง่…ธ่Œ๏ผˆ enterohemorrhagic Escherichia coli: EHEC๏ผ‰ใซใ‚ˆใ‚‹่…ธ็‚Žใซๅผ•ใ็ถšใ๏ผŒTMAใฎ3ไธปๅพด๏ผˆๆจ™็š„้šœๅฎณ่‡“ๅ™จใฏ่…Ž๏ผ‰ใŒใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒSTEC-HUSใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ" @ja
dcterms:identifier2200272NANDO:2200639
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_46_059_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label - "Partial anomalous pulmonary venous connection" + "disseminated intravascular coagulation" @en
rdfs:label - "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + "ใฏใ—ใ‚…ใ›ใ„ใ‘ใฃใ‹ใ‚“ใชใ„ใŽใ‚‡ใ†ใ“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_46_059/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01587
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_10_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100088http://nanbyodata.jp/ontology/NANDO_2200638
+ skos:altLabel + "DIC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020453http://purl.obolibrary.org/obo/MONDO_0001243
skos:prefLabel - "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡" + "ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200273 +
http://nanbyodata.jp/ontology/NANDO_2200640 (rdf:type owl:Class @@ -109622,62 +165619,88 @@

hasNotificationNumber79hasNotificationNumber47
dcterms:description - "่‚บ้™่„ˆใŒ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๅ ดๅˆใจใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฎ่ก“ๅพŒใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใŒใ‚ใ‚Œใฐใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใซ๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚้–‰้Ž–ใ—ใฆใ„ใ‚Œใฐใ€็”ŸๅพŒใฏ็”Ÿๅญ˜ใงใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚" + "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ" @ja
dcterms:identifier2200273NANDO:2200640
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_47_060_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label - "Pulmonary venous obstruction" + "Shiga toxin-producing Escherichia coli hemolytic uremic syndrome" @en
rdfs:label - "่‚บ้™่„ˆ็‹ญ็ช„็—‡" + "ใ—ใŒใฉใใใ•ใ‚“ใ›ใ„ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใณใ‚‡ใ†ใ’ใ‚“ใ ใ„ใกใ‚‡ใ†ใใ‚“ใซใ‚ˆใ‚‹" + @ja-Hira
+ rdfs:label + "ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_47_060/https://www.shouman.jp/disease/details/09_10_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100089http://nanbyodata.jp/ontology/NANDO_2200638
+ skos:altLabel + "STEC-HUS" + @en
+ skos:altLabel + "Shiga toxin-producing Escherichia coli haemolytic uremic syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019536
skos:prefLabel - "่‚บ้™่„ˆ็‹ญ็ช„็—‡" + "ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200274 +
http://nanbyodata.jp/ontology/NANDO_2200641 (rdf:type owl:Class @@ -109685,67 +165708,98 @@

hasNotificationNumber21hasNotificationNumber47
dcterms:description - "ๆฌ ๆๅญ”ใฎ้ƒจไฝใซใ‚ˆใ‚Šไปฅไธ‹ใฎ2็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅผไธŠๅž‹ใงใฏ๏ผŒ ไธ‰ๅฐ–ๅผไธญ้š”ๅฐ–ไป˜็€้ƒจใฎ่†œๆง˜้ƒจไธญ้š”ใ‚ˆใ‚ŠไธŠไฝใซๆฌ ๆใ‚’ๆœ‰ใ—๏ผŒ ๅทฆๅฎคใ‹ใ‚‰็›ดๆŽฅๅณๆˆฟใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒ ๅผไธ‹ๅž‹ใงใฏ๏ผŒ ๆฌ ๆๅญ”ใŒไธญ้š”ๅฐ–ใ‚ˆใ‚Šไธ‹้ƒจใฎๅฟƒๅฎค้–“่†œๆง˜้ƒจไธญ้š”ใซ็”Ÿใ˜ใ‚‹ใ€‚" + "aHUSใฏ๏ผŒSTEC-HUSใจADAMTS13ใฎๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณใง๏ผŒMAHA๏ผŒ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒๆ€ฅๆ€ง่…Žๅ‚ทๅฎณ๏ผˆAKI๏ผ‰ใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹" @ja
dcterms:identifier2200274NANDO:2200641
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_48_061_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label - "Left ventricular-right atrial communication" + "Atypical hemolytic uremic syndrome" @en
rdfs:label - "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" + "ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_48_061/http://nanbyodata.jp/ontology/NANDO_1200473
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2200131
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/02_02_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100090http://nanbyodata.jp/ontology/NANDO_2200638
+ skos:altLabel + "Atypical haemolytic uraemic syndrome" + @en
+ skos:altLabel + "aHUS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020428http://purl.obolibrary.org/obo/MONDO_0016244
skos:prefLabel - "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡" + "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200275 +
http://nanbyodata.jp/ontology/NANDO_2200642 (rdf:type owl:Class @@ -109753,62 +165807,76 @@

hasNotificationNumber2hasNotificationNumber47
dcterms:description - "ๅณๅฎคใฎๆผๆ–—้ƒจใฎ็‹ญ็ช„ใงใฏใชใ๏ผŒ ๆผๆ–—้ƒจใ‚ˆใ‚Šใ‚‚่ฟ‘ไฝๅดใฎๅณๅฎค่‚‰ๆŸฑ้ƒจใฎ่‚‰ๆŸฑใŒ็•ฐๅธธใซ้ซ˜ใ๏ผŒ ใ‹ใคๅคชใใชใ‚Š๏ผŒ ๅณๅฎคๅ†…ใซ็‹ญ็ช„ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚่ด่จบใงใฏ่ƒธ้ชจๅทฆ็ธใซ่กจๅœจ็š„ใซ็ฒ—ใ้•ทใ„ๅŽ็ธฎๆœŸ้›‘้Ÿณใ‚’ใใ. ๅณๅฎคๅ†…ใฎๅœงๅทฎใŒ30๏ฝž50mmHgไปฅไธŠใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹." + "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใซ๏ผŒๅพฎๅฐ่ก€็ฎกใซ่ก€็ฎกๅ†…็šฎ็ดฐ่ƒž้šœๅฎณ๏ผŒ่ก€็ฎกๅฃใฎ็กๅญๆง˜ๅค‰ๆ€งใ‚’ไผดใ†่‚ฅๅŽšใ‹ใ‚‰ใชใ‚‹ๅพฎๅฐ่ก€็ฎก้šœๅฎณ๏ผˆmicroangiopathy๏ผ‰ใ‚’ใใŸใ—๏ผŒ่™š่ก€ๆ€ง่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ" @ja
dcterms:identifier2200275NANDO:2200642
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_49_062_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label - "Double-chambered right ventricle" + "Stem cell transplant-associated thrombotic microangiopathy" @en
rdfs:label - "ๅณๅฎคไบŒ่…”็—‡" + "ใžใ†ใ‘ใคใ‹ใ‚“ใ•ใ„ใผใ†ใ„ใ—ใ‚‡ใใ”ใ‘ใฃใ›ใ‚“ใ›ใ„ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_49_062/https://www.shouman.jp/disease/details/09_10_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100091http://nanbyodata.jp/ontology/NANDO_2200638
+ skos:altLabel + "SCT-TMA" + @en
skos:prefLabel - "ๅณๅฎคไบŒ่…”็—‡" + "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200276 +
http://nanbyodata.jp/ontology/NANDO_2200643 (rdf:type owl:Class @@ -109816,62 +165884,93 @@

hasNotificationNumber86hasNotificationNumber25
dcterms:description - "่‚บๅ‹•่„ˆๅผไธ‹๏ผˆๅณๅฎคๆผๆ–—้ƒจ๏ผ‰ใฎ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅณๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅณๅฎคไป•ไบ‹้‡ใŒๅข—ๅคงใ™ใ‚‹ใ€‚ไป–ใซๅฟƒๅฅ‡ๅฝขใŒ็„กใใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒ่‡ช็„ถ้–‰้Ž–ใ—ใŸๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็—‡ไพ‹ใงใฏๅค–็ง‘ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ใƒใƒซใƒผใƒณๆ‹กๅคง่ก“ใฏ็„กๅŠนใงใ‚ใ‚‹ใ€‚" + "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200276NANDO:2200643
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_50_063_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_11_021_01.pdf
rdfs:label - "Subvalvular pulmonary stenosis" + "Polycythemia vera" @en
rdfs:label - "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "ใ—ใ‚“ใ›ใ„ใŸใ‘ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็œŸๆ€งๅคš่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_50_063/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2875
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_11_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100092http://nanbyodata.jp/ontology/NANDO_2100186
+ skos:altLabel + "PV" + @en
+ skos:altLabel + "Polycythaemia vera" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009891
skos:prefLabel - "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "็œŸๆ€งๅคš่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200277 +
http://nanbyodata.jp/ontology/NANDO_2200644 (rdf:type owl:Class @@ -109879,67 +165978,81 @@

hasNotificationNumber64hasNotificationNumber9
dcterms:description - "ๅคงๅ‹•่„ˆๅผไธ‹ใฎ่†œๆง˜ใพใŸใฏ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅทฆๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅทฆๅฎคไป•ไบ‹้‡ใฏๅข—ๅคงใ™ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๆˆฟๅฎคไธญ้š”ๆฌ ๆใชใฉใซๅˆไฝตใ™ใ‚‹ใ€‚50mmHgไปฅไธŠใฎๅœงๅทฎใŒใ‚ใ‚‹ใจใใซๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚" + "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200277NANDO:2200644
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_51_064_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_12_022_01.pdf
rdfs:label - "Subvalvular aortic stenosis" + "Familial polycythemia" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "ใ‹ใžใใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_51_064/https://www.shouman.jp/disease/details/09_12_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100093http://nanbyodata.jp/ontology/NANDO_2100187
+ skos:altLabel + "Familial polycythaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006987http://purl.obolibrary.org/obo/MONDO_0001115
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡" + "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200278 +
http://nanbyodata.jp/ontology/NANDO_2200645 (rdf:type owl:Class @@ -109947,67 +166060,79 @@

hasNotificationNumber80hasNotificationNumber16
dcterms:description - "่‚บๅ‹•่„ˆใฎๅผไธŠใ‚‚ใ—ใใฏๆœซๆขขใซใ‹ใ‘ใฆ็‹ญ็ช„ใ€‚ๅทฆๅณๅฟƒๅฎค้–“ใฎไบค้€šใ‚’ไผดใ‚ใชใ„ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œ่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆœฌ็—‡ใฏprimary immune thrombocytopenia๏ผˆไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅŽŸๅ› ็–พๆ‚ฃใซๅˆไฝตใ—ใŸ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏsecondary immune thrombocytopenia๏ผˆไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้‡็ฏคๅ‡บ่ก€ใฏ็จ€ใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฏๅทจๆ ธ็ƒใฎๅข—ๅŠ ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ITPใฎ่จบๆ–ญใฏ้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ็–พๆ‚ฃใ‚„่–ฌๅ‰คใฎ้–ขไธŽใ‚’้‘‘ๅˆฅใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ฮผLๆœชๆบ€ใงใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€ๅทจๆ ธ็ƒใฎๆˆ็†Ÿ้šœๅฎณใ‚„็ดฐ่ƒžๅ‚ทๅฎณใ‚’็”Ÿใ˜ใฆใŠใ‚Šใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200278NANDO:2200645
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_52_065_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_13_023_01.pdf
rdfs:label - "Supravalvular pulmonary stenosis" + "immune thrombocytopenic purpura" @en
rdfs:label - "่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" + "ใ‚ใ‚“ใˆใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_52_065/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1528
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_13_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100094http://nanbyodata.jp/ontology/NANDO_2100188
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017870http://purl.obolibrary.org/obo/MONDO_0008558
skos:prefLabel - "่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" + "ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - - + + - + - + + "23ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200279 +
http://nanbyodata.jp/ontology/NANDO_2200646 (rdf:type owl:Class @@ -110015,67 +166140,69 @@

hasNotificationNumber81hasNotificationNumber17
dcterms:description - "ไธป่‚บๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅณ่‚บๅ‹•่„ˆ,ใ•ใ‚‰ใซๆœซๆขขใฆใ‚™ใฎ่ก€็ฎกๆ€ง็‹ญ็ช„ใฆใ‚™ใ‚ใ‚‹ใ€‚็จฎใ€…ใฎ้ƒจไฝใฆใ‚™็‹ญ็ช„ใจใชใ‚Š,ๅ˜็‹ฌใฎ็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ‹ใ‚™,ๅคšใใฏๅคš็™บๆ€งใฆใ‚™ใ‚ใ‚‹ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚" + "ๆœฌ็ดฐๅˆ†้กž24ใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏๅŽŸๅ› ็–พๆ‚ฃใฎๅˆไฝต็—‡ใ€ใ‚ใ‚‹ใ„ใฏไธ€็—‡็Šถใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใงใ€่‡จๅบŠๅƒใฏๅ€‹ๅˆฅใฎๅŽŸๅ› ็–พๆ‚ฃใซใ‚ˆใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใฎ้™คๅค–่จบๆ–ญใซใ‚ˆใ‚‹็ดฐๅˆ†้กž23ใ€Œๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆITP๏ผ‰ใ€ใŒ่ก€ๅฐๆฟใซ้™ๅฎšใ—ใŸ่ก€็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใฎใซๅฏพใ—ใฆใ€ๆœฌ็ดฐๅˆ†้กžใฎ็–พๆ‚ฃใฏ่ก€ๅฐๆฟๆธ›ๅฐ‘ใฎใฟใชใ‚‰ใšไป–ใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚„ๅ…็–ซ็•ฐๅธธใ‚’ไผดใ„ใ€ๅ‡บ่ก€็—‡็ŠถใซๅŠ ใˆใฆๅ€‹ใ€…ใฎๅŽŸๅ› ็–พๆ‚ฃใซ็‰นๆœ‰ใชๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆไบŒๆฌกๆ€งITP๏ผ‰ใฏใ€ๅ…็–ซ็•ฐๅธธใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ€ใ—ใฐใ—ใฐๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚‹่ก€ๆถฒๅ…็–ซ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใจใ—ใฆใฏ่† ๅŽŸ็—…ใ€ๅ…็–ซไธๅ…จ็—‡ใ€ใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ใƒ”ใƒญใƒชๆ„ŸๆŸ“ใ€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„็งปๆคๅพŒๅˆไฝต็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ๆฏๅญ้–“ใซใŠใ‘ใ‚‹่ก€ๅฐๆฟๆŠ—ๅŽŸใ‚„HLAๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹ๆฏ่ฆชใฎๅŒ็จฎๆŠ—ไฝ“ใŒ็ตŒ่ƒŽ็›ค็š„ใซๅ…ใซ็งป่กŒใ™ใ‚‹ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚„ITPๅˆไฝตๆฏไฝ“ใฎๅ‡บ็”Ÿๅ…ใงใฏไธ€้Žๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚ใพใŸใ€ๅฐๅ…ใซใŠใ„ใฆใฏ้žๅ…็–ซๅญฆ็š„็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใŒ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‚‚ใ—ใฐใ—ใฐ็ตŒ้จ“ใ•ใ‚Œใ‚‹ใ€‚้žๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’็”Ÿใ˜ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใซใฏใ€่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟ็—‡ใ€่ก€็ฎก่…ซใซไผดใ†ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200279NANDO:2200646
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_52_066_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf
rdfs:label - "Peripheral pulmonary stenosis" - @en
rdfs:label - "ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" + "23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
+ rdfs:label + "Other thrombocytopenic purpura" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_52_066/https://www.shouman.jp/disease/details/09_13_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100094
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020420http://nanbyodata.jp/ontology/NANDO_2100188
skos:prefLabel - "ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡" + "23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200280 +
http://nanbyodata.jp/ontology/NANDO_2200647 (rdf:type owl:Class @@ -110083,67 +166210,67 @@

hasNotificationNumber87
- dcterms:description - "ๅ…ˆๅคฉ็š„ใซ่‚บๅ‹•่„ˆๅผใŒๆฌ ๆใ—ใ€่‚บๅ‹•่„ˆๅผ่ผช็‹ญ็ช„ใ€่‚บๅ‹•่„ˆๆ‹กๅคงใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๆฐ—็ฎกๅœง่ฟซใ€ๆฐ—็ฎกไฝŽๅฝขๆˆใ‚’ใจใ‚‚ใชใ†ใ“ใจใŒๅคšใ„ใ€‚ๅผๆฌ ๆใฎใ‚ฟใ‚คใƒ—ใจใ—ใฆใ€1)complete type๏ผˆๅผ็ต„็น”ใฎๅฎŒๅ…จๆฌ ๆ๏ผ‰ใ€2)ridge type๏ผˆๅผใŒ็ต็ฏ€็Šถใซๅผ่ผช็›ดไธŠใงridgeใ‚’ๅฝขๆˆ๏ผ‰ใ€3)partial absence๏ผˆๅผใŒไธ€ๅผๅฐ–ใชใ„ใ—ไบŒๅผๅฐ–ๅฝขๆˆใ•ใ‚Œใ€ๆฎ‹ใ‚ŠใŒๆฌ ๆ๏ผ‰ใ‚’ๅซใ‚€ใ€‚ๅคง้ƒจๅˆ†ใฏFallotๅ››ๅพด็—‡ใซๅˆไฝตใ—ใ€ใใฎไป–ใฎๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber17
dcterms:identifier2200280NANDO:2200647
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_53_067_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf
rdfs:label - "Absent pulmonary valve" + "neonatal alloimmune thrombocytopenia" @en
rdfs:label - "่‚บๅ‹•่„ˆๅผๆฌ ๆ" + "ใ—ใ‚“ใ›ใ„ใ˜ใฉใ†ใ—ใ‚…ใ‚ใ‚“ใˆใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_53_067/https://www.shouman.jp/disease/details/09_13_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100095http://nanbyodata.jp/ontology/NANDO_2200646
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020064http://purl.obolibrary.org/obo/MONDO_0019415
skos:prefLabel - "่‚บๅ‹•่„ˆๅผๆฌ ๆ" + "ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200281 +
http://nanbyodata.jp/ontology/NANDO_2200648 (rdf:type owl:Class @@ -110151,62 +166278,67 @@

hasNotificationNumber82
- dcterms:description - "๏ผˆ้€šๅธธใฎๅทฆๅดๅคงๅ‹•่„ˆๅผ“ใซใŠใ„ใฆ๏ผ‰่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅทฆใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅณ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅณ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ใพใŸใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“ใฎๅ ดๅˆใ€่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅณใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅทฆ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅทฆ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆญฃๅธธๅดใ‚‚่‚บ้ซ˜่ก€ๅœงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ€ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่กŒใ„ใ€ใงใใ‚‹้™ใ‚Šๆ—ฉๆœŸใซไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹่‚บๅ‹•่„ˆใ‚’ๅˆ‡ใ‚Š้›ขใ—ใฆไธป่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚" - @jahasNotificationNumber17
dcterms:identifier2200281NANDO:2200648
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_54_068_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf
rdfs:label - "Origin of pulmonary artery from ascending aorta" + "Heparin-induced thrombocytopenia" @en
rdfs:label - "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" + "ใธใฑใ‚Šใ‚“ใใ„ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ˜ใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_54_068/https://www.shouman.jp/disease/details/09_13_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100096http://nanbyodata.jp/ontology/NANDO_2200646
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018048
skos:prefLabel - "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡" + "ใƒ˜ใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200282 +
http://nanbyodata.jp/ontology/NANDO_2200649 (rdf:type owl:Class @@ -110214,62 +166346,79 @@

hasNotificationNumber1hasNotificationNumber18
dcterms:description - "ๅณๅฎคใ‹ใ‚‰ไธป่‚บๅ‹•่„ˆใ‚’็ตŒใฆใ€็‰‡ๅดใฎ่‚บๅ‹•่„ˆใซใฎใฟใคใชใŒใ‚Šใ€ๅๅฏพๅดใฎ่‚บๅ‹•่„ˆใŒ่‡จๅบŠ็š„ใซ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚่‚บๅ‹•่„ˆๅˆ†ๆž้ƒจใŒๆฌ ๆใ™ใ‚‹ใŒใ€่‚บ้–€้ƒจใ‹ใ‚‰ๆœซๆขขใฏๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใงใใ‚Œใฐใ€ๆ‚ฃๅด่‚บๅ‹•่„ˆใซ็Ÿญ็ตก่ก“ใ‚’ๆ–ฝ่กŒใ—ใ€่‚บๅ‹•่„ˆใŒๆˆ้•ทใ™ใ‚Œใฐใ€ไธป่‚บๅ‹•่„ˆใจๆฌ ๆๅดใฎ่‚บๅ‹•่„ˆใ‚’ใคใชใๆ‰‹่ก“ใ‚’ๆคœ่จŽใ™ใ‚‹ใ€‚" + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…(thrombotic thrombocytopenic purpura: TTP)ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็ดฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(microangiopathic hemolytic anemia:MAHA)ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่…Ž้šœๅฎณใ€็™บ็†ฑใ€ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใฎๅคๅ…ธ็š„5ๅพดๅ€™๏ผˆๆ–‡็Œฎ1๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ๅ…จ่บซใฎๅพฎๅฐ่ก€็ฎกใซ่ก€ๅฐๆฟ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚5ๅพดๅ€™ใŒใ™ในใฆๆƒใ†ใ“ใจใฏTTPใฎ็—…ๆœŸใŒ้€ฒ่กŒใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ๆœ€่ฟ‘ใงใฏไป–ใซๅŽŸๅ› ใฎใชใ„่ก€ๅฐๆฟๆธ›ๅฐ‘ใจMAHAใฎๅญ˜ๅœจใงๆœฌ็–พๆ‚ฃใ‚’็–‘ใ†ใ“ใจใŒ้‡่ฆใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผˆๆ–‡็Œฎ2,3๏ผ‰ใ€‚TTPใฎใปใจใ‚“ใฉใŒๅพŒๅคฉๆ€งใงใ‚ใ‚‹ใŒใ€ๅ…ˆๅคฉๆ€งTTP๏ผˆUpshaw-Schulman็—‡ๅ€™็พค๏ผšUSS๏ผ‰ใงใฏใ€MAHAใŒๆ˜Žใ‚‰ใ‹ใงใฏใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใฎใง่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒๆœ€ใ‚‚้‡่ฆใชๆŒ‡ๆจ™ใจใชใ‚‹ใ€‚ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏใ€ใƒ•ใ‚ฉใƒณใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆVWF๏ผ‰ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13)ๆดปๆ€ง่‘—ๆธ›ใง่จบๆ–ญใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹๏ผˆๆ–‡็Œฎ4,5๏ผ‰ใ€‚" @ja
dcterms:identifier2200282NANDO:2200649
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_55_069_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_14_025_01.pdf
rdfs:label - "Unilateral absence of a pulmonary artery" + "Thrombotic thrombocytopenic purpura" @en
rdfs:label - "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" + "ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_55_069/http://nanbyodata.jp/ontology/NANDO_1200316
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_14_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100097http://nanbyodata.jp/ontology/NANDO_2100189
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018896
skos:prefLabel - "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ" + "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200283 +
http://nanbyodata.jp/ontology/NANDO_2200650 (rdf:type owl:Class @@ -110277,72 +166426,74 @@

hasNotificationNumber59hasNotificationNumber15
dcterms:description - "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไธŠๅŠ่บซใฏ้ซ˜่ก€ๅœงใจใชใ‚Šใ€่„ณๅ‡บ่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€ใ‚ใ‚‰ใ‚†ใ‚‹ๅŽŸๅ› ใฎ่„พ่…ซใง่ช˜็™บใ•ใ‚Œใ‚‹ไบŒๆฌก็š„ใช็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใชใฉใฎ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’ไผดใ†ใ€‚่„พ่…ซใ‚’ๆฅใ™็–พๆ‚ฃใจใ—ใฆใฏใ€ใ†ใฃ่ก€ๆ€ง่„พ่…ซใ€ๆ„ŸๆŸ“็—‡ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่“„็ฉ็—‡ใ€่„พๅšข่ƒžใชใฉใŒใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€่ก€ๅฐๆฟๆ•ฐใŒ๏ผ‘๏ผไธ‡/ฮผlๆœชๆบ€ใฎๅ ดๅˆใ€่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆ็™ฝ่ก€็—…ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉ๏ผ‰ใงใฏใ€็–พๆ‚ฃ่‡ชไฝ“ใซใ‚ˆใ‚‹้ชจ้ซ„ๆŠ‘ๅˆถไฝœ็”จใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚‚ๆฅใŸใ™ใŸใ‚ใ€ใ€Œ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ใจใ™ใ‚‹ใ“ใจใฏใ€ๆ…Ž้‡ใซๅˆคๆ–ญใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200283NANDO:2200650
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_070_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_15_026_01.pdf
rdfs:label - "Coarctation of the aorta" + "thrombocytopenia due to hypersplenism" @en
rdfs:label - "ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡" + "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=312https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00978
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_070/https://www.shouman.jp/disease/details/09_15_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100098
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007345http://nanbyodata.jp/ontology/NANDO_2100190
skos:prefLabel - "ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡" + "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200284 +
http://nanbyodata.jp/ontology/NANDO_2200651 (rdf:type owl:Class @@ -110350,62 +166501,91 @@

hasNotificationNumber60hasNotificationNumber41
dcterms:description - "ๅคงๅ‹•่„ˆ็ธฎ็ช„ใฏๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใŸ็‹ญ็ช„ใ€‚ๅคงๅ‹•่„ˆๅณก้ƒจใฎไฝŽๅฝขๆˆใ‚‚ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็”ŸๅพŒใพใ‚‚ใชใใฏๅ‹•่„ˆ็ฎกใŒ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŒใ€้–‰้Ž–ใ™ใ‚‹ใจใ€ใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใชใ‚‹ใ€‚่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ซ˜ๅบฆใฎๅฟƒไธๅ…จใจใชใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ใŒๅฟ…่ฆใช้‡็—‡ๅฟƒ็–พๆ‚ฃใ€‚" + "ๆœฌ็–พๆ‚ฃใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใซใฆๅทจๆ ธ็ƒใŒ่‘—ๆธ›ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅพŒใ€่ก€ๅฐๆฟใ€็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใฎ3็ณป็ตฑใฎ้ชจ้ซ„้€ ่ก€ไธๅ…จใŒๅพใ€…ใซ้€ฒ่กŒใ—ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใธ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€thrombopoietin(TPO)ๅ—ๅฎนไฝ“ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MPL้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎไธ€ใคใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1-6)ใ€‚" @ja
dcterms:identifier2200284NANDO:2200651
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_071_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_16_027_01.pdf
rdfs:label - "Coarctation complex" + "Congenital amegakaryocytic thrombocytopenia" @en
rdfs:label - "ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใใ‚‡ใ‹ใใใ‚…ใ†ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_071/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4269
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00227
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_16_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100098http://nanbyodata.jp/ontology/NANDO_2100191
+ skos:altLabel + "CAMT" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011469
skos:prefLabel - "ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ" + "ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200285 +
http://nanbyodata.jp/ontology/NANDO_2200652 (rdf:type owl:Class @@ -110413,72 +166593,98 @@

hasNotificationNumber61hasNotificationNumber42
dcterms:description - "ๅคงๅ‹•่„ˆๅผไธŠใ€Valsalvaๆดžใ‚ˆใ‚Š้ ไฝใŒ้™ๅฑ€ๆ€งใซ็‹ญ็ช„ใ—ใŸ็—…ๆ…‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆใฎไฝŽๅฝขๆˆใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚Williams็—‡ๅ€™็พคใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ€ๅฎถๆ—ๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ๅ‰ๅพŒใฎๅœง่ผƒๅทฎใŒ50mmHgไปฅไธŠใฎ็—‡ไพ‹ใฏๆ‰‹่ก“้ฉๅฟœใจใชใ‚‹ใ€‚" + "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€๏ผˆFA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใชDNAๆๅ‚ทไฟฎๅพฉ้šœๅฎณใ‚’่ƒŒๆ™ฏใซใ€้€ฒ่กŒๆ€งใฎๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMDS๏ผ‰ใ‚„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€ๅ…ˆๅคฉ็š„ใชๅฝขๆ…‹็•ฐๅธธใ€ๆ˜“็™บใŒใ‚“ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญ่จบๆ–ญใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€90%ไปฅไธŠใฎๆ‚ฃ่€…ใง่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ1)ใ€‚" @ja
dcterms:identifier2200285NANDO:2200652
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_072_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_16_028_01.pdf
rdfs:label - "Supravalvular aortic stenosis" + "Fanconi anemia" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" + "ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1483http://nanbyodata.jp/ontology/NANDO_1200303
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_072/http://nanbyodata.jp/ontology/NANDO_1200891
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_16_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100098http://nanbyodata.jp/ontology/NANDO_2100191
+ skos:altLabel + "Fanconi anaemia" + @en
+ skos:altLabel + "Fanconi่ฒง่ก€" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008504http://purl.obolibrary.org/obo/MONDO_0019391
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡" + "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" @ja
- - + - - + + - + - + + "ใ—ใ‚…ใ†ใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200286 +
http://nanbyodata.jp/ontology/NANDO_2200653 (rdf:type owl:Class @@ -110486,84 +166692,79 @@

hasNotificationNumber58hasNotificationNumber24
dcterms:description - "็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰น็•ฐใชๆ€งๆ ผใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใŠใ‚ˆใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒ๏ผŒ้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹๏ผŽใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—๏ผŒ็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„๏ผŒ็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใ€‚" + "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจๆญฃๅธธ่ก€ๅฐๆฟๆ•ฐใธใฎๅ›žๅพฉใŒไธ€ๅฎšใฎๅ‘จๆœŸใง็นฐใ‚Š่ฟ”ใ•ใ‚Œใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎๅ‘จๆœŸๅฝขๆˆใฎๆฉŸๅบใจใ—ใฆใ€๏ผˆ1๏ผ‰ๅทจๆ ธ็ƒใฎ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ2๏ผ‰ๅทจๆ ธ็ƒๅ†…ใงใฎ่ก€ๅฐๆฟ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ3๏ผ‰่ก€ๅฐๆฟใฎ็ ดๅฃŠใฎๅค‰ๅ‹•ใ€ใŒๆŽจๅฏŸใ•ใ‚Œๆˆๅ› ใฎๅคšๆง˜ๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200286NANDO:2200653
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_17_029_01.pdf
rdfs:label - "Williams syndrome" + "cyclic thrombocytopenia" @en
rdfs:label - "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1648 + rdfs:label + "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01439http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1526
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_073/https://www.shouman.jp/disease/details/09_17_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100098
- skos:altLabel - "Williams็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2100192
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008678http://purl.obolibrary.org/obo/MONDO_0008556
skos:prefLabel - "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค" + "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - + + - + - + + "May-Hegglin anomaly" + @en + "ใ‚ใ„ใƒปใธใใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200287 +
http://nanbyodata.jp/ontology/NANDO_2200654 (rdf:type owl:Class @@ -110571,62 +166772,86 @@

hasNotificationNumber62hasNotificationNumber51
dcterms:description - "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใจใ‚ˆใถใŒใ€ใใ‚Œไปฅๅค–ใฎ้ƒจไฝใ€ๅคšใใฏใ€ๆจช้š”่†œไฝใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็‹ญ็ช„ใจๅ‘ผใถใ€‚Mid aortic syndromeใจใ‚‚ๅ‘ผใถใ€‚ๅคงๅ‹•่„ˆ็‚Žใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ€‚่…Žๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚‚ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็‹ญ็ช„ใซใ‚ˆใ‚‹่™š่ก€็—‡็Šถใ€็‹ญ็ช„้ƒจๅ‰ใฎ่ก€ๅœงไธŠๆ˜‡ใซใ‚ˆใ‚Šใ€่„ณ่™š่ก€ใ€่„ณๅ‡บ่ก€ใ€่…Ž่™š่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹" + "ๆœฌ็–พๆ‚ฃใฏใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธญใงๅทจๅคง่ก€ๅฐๆฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธใ€ใ‚ปใƒใ‚นใƒใƒฃใƒณ๏ผˆSebastian๏ผ‰็—‡ๅ€™็พคใ€ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ๏ผˆFechtner๏ผ‰็—‡ๅ€™็พคใ€ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEpstein๏ผ‰็—‡ๅ€™็พคใจๅˆฅใ€…ใซๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸ้กž็ธ็–พๆ‚ฃใŒใ€ๅŒไธ€ใฎ้บไผๅญ๏ผˆMYH9้บไผๅญ๏ผ‰็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใ“ใ‚Œใ‚‰ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆœฌ็–พๆ‚ฃใŒๆๅ”ฑใ•ใ‚ŒใŸ๏ผˆใคใพใ‚Šใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธใฏใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ใซๅŒ…ๅซใ•ใ‚Œใ‚‹1็—…ๅž‹ใจใชใ‚‹๏ผ‰ใ€‚ๅŒ็พฉใงใ€MYH9็•ฐๅธธ็—‡ใจใ„ใ†็–พๆ‚ฃๅใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๅ…ทไฝ“็š„ใชๅฎš็พฉใจใ—ใฆใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€ๅทจๅคง่ก€ๅฐๆฟ็—‡ใŒใฟใ‚‰ใ‚Œใ€MYH9้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ๅ ดๅˆใซใ€ๆœฌ็–พๆ‚ฃใจ่จบๆ–ญใ™ใ‚‹ใ€‚ใใฎไป–ใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌๅƒใงใฎ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“๏ผˆใƒ‡ใƒผใƒฌๆง˜ๅฐไฝ“๏ผšDรถhle-like bodies๏ผ‰ใฎๅญ˜ๅœจใ‚„ใ€่…Ž็‚Žใ€้›ฃ่ดใ€็™ฝๅ†…้šœใจใ„ใฃใŸใ‚ขใƒซใƒใƒผใƒˆ๏ผˆAlport๏ผ‰็—‡็Šถใฏๆœฌ็–พๆ‚ฃใ‚’็คบๅ”†ใ™ใ‚‹ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚ใชใŠใ€ๅทจๅคง่ก€ๅฐๆฟใฎๆญฃๅผใชๅฎš็พฉใฏใชใ„ใŒใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌไธŠใ€ๆฆ‚ใญๆญฃๅธธ่ก€ๅฐๆฟใฎๅคงใใ•ใฎ2ๅ€็จ‹ๅบฆ๏ผˆ็›ดๅพ„4ฮผm๏ผ‰ใฎๅ ดๅˆใซๅคงๅž‹่ก€ๅฐๆฟใ€่ตค่ก€็ƒๅคง๏ผˆ็›ดๅพ„8ฮผm๏ผ‰ไปฅไธŠใฎๅ ดๅˆใซๅทจๅคง่ก€ๅฐๆฟใจๅˆคๅฎšใ™ใ‚‹ใ€‚ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—‡๏ผˆITP๏ผ‰ใงใ‚‚ๅคงๅž‹่ก€ๅฐๆฟใฏใ—ใฐใ—ใฐ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€ๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๆญฃๅธธๅคงใงใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€งๅทจๅคง่ก€ๅฐๆฟ็—‡ใงใฏๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๅคงๅž‹ใ‚ใ‚‹ใ„ใฏๅทจๅคงใงใ‚ใ‚Šใ€ๆญฃๅธธๅคง่ก€ๅฐๆฟใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ไปฅไธ‹ใซใ€ใ“ใ‚Œใพใงไฝฟ็”จใ•ใ‚ŒใฆใใŸ็–พๆ‚ฃๅใฎใใ‚Œใžใ‚Œใฎ่‡จๅบŠ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ๏ผšๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใ‚ปใƒใ‚นใƒใƒฃใƒณ็—‡ๅ€™็พค๏ผšใ‚„ใ‚„ไธๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถ๏ผˆ่…Ž็‚Žใƒป้›ฃ่ดใƒป็™ฝๅ†…้šœ๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถใ‚’่ชใ‚ใ‚‹ใŒใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฏๅŒๅฎšๅ›ฐ้›ฃ" @ja
dcterms:identifier2200287NANDO:2200654
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_56_074_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_18_030_01.pdf
rdfs:label - "70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" - @ja
rdfs:label - "Other Coarctation of the aorta" - @en
+ rdfs:label + "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_56_074/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=949
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_18_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100098http://nanbyodata.jp/ontology/NANDO_2100193
+ skos:altLabel + "May-Hegglin็•ฐๅธธ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007954
skos:prefLabel - "70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡" + "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200288 +
http://nanbyodata.jp/ontology/NANDO_2200655 (rdf:type owl:Class @@ -110634,62 +166859,93 @@

hasNotificationNumber57hasNotificationNumber49
dcterms:description - "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจใŒๆฌ ๆใƒป้›ขๆ–ญใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ๅฟƒ็–พๆ‚ฃใ€‚้›ขๆ–ญใ—ใฆใ„ใ‚‹้ƒจไฝใซใ‚ˆใ‚ŠAๅž‹(ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎๆœซๆขขใง้›ขๆ–ญ)ใ€Bๅž‹(ๅทฆ็ท้ ธๅ‹•่„ˆใจๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎ้–“ใง้›ขๆ–ญ)ใ€Cๅž‹(ๅณ่…•้ ญๅ‹•่„ˆใจๅทฆ็ท้ ธๅ‹•่„ˆใจใฎ้–“ใง้›ขๆ–ญ)ใซ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹(Celoria-Pattonๅˆ†้กž)ใ€‚ๆ–ฐ็”Ÿๅ…ๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅ‘ผๅธใ€้™ฅๆฒกๅ‘ผๅธใ€ๅ“บไนณๅ›ฐ้›ฃใ€ๅฐฟ้‡ไฝŽไธ‹ใชใฉใฎๅฟƒไธๅ…จ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200288NANDO:2200655
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_57_075_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_19_031_01.pdf
rdfs:label - "Interruption of aortic arch complex" + "Essential thrombocythemia" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ" + "ใปใ‚“ใŸใ„ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_57_075/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01612
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_19_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100099http://nanbyodata.jp/ontology/NANDO_2100194
+ skos:altLabel + "ET" + @en
+ skos:altLabel + "Essential thrombocythaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005029
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ" + "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200289 +
http://nanbyodata.jp/ontology/NANDO_2200656 (rdf:type owl:Class @@ -110697,62 +166953,91 @@

hasNotificationNumber56hasNotificationNumber13
dcterms:description - "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจๅ†…่…”ใŒ้–‰ๅกžใ—็ดข็Šถ็‰ฉใงใคใชใŒใ‚‹ใ‚‚ใฎใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "Bernard-Soulier็—‡ๅ€™็พค (BSS)ใฏใ€ๅ…ˆๅคฉ็š„ใซๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ—ใ€่ก€ๅฐๆฟ่†œ็ณ–่›‹็™ฝ๏ผˆGP๏ผ‰Ib/IX่ค‡ๅˆไฝ“ๆฌ ๆใซใ‚ˆใ‚‹ๅทจๅคง่ก€ๅฐๆฟๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจ่ก€ๅฐๆฟๅ‡้›†ๆฌ ๅฆ‚ใ‚’็‰นๅพดใจใ™ใ‚‹่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200289NANDO:2200656
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_57_076_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_032_01.pdf
rdfs:label - "Aortic arch occlusive disease" + "Bernard-Soulier syndrome" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" + "ในใ‚‹ใชใƒผใ‚‹ใƒปใ™ใƒผใ‚Šใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_57_076/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2264
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00224
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100099http://nanbyodata.jp/ontology/NANDO_2100195
+ skos:altLabel + "Bernard-Soulier็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009276
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡" + "ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200290 +
http://nanbyodata.jp/ontology/NANDO_2200657 (rdf:type owl:Class @@ -110760,62 +167045,79 @@

hasNotificationNumber18hasNotificationNumber12
dcterms:description - "ๅณๅคงๅ‹•่„ˆๅผ“ใจๅทฆๅคงๅ‹•่„ˆๅผ“ใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใจใชใ‚Šใ€่ก€็ฎก่ผชใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ๅทฆๅณใฎๅคงๅ‹•่„ˆๅผ“ใฏๅˆๆตใ—ใฆไธ‹่กŒๅคงๅ‹•่„ˆใจใชใ‚‹ใ€‚ๅทฆๅณๅคงๅ‹•่„ˆๅผ“ใซๆŒŸใพใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็–พๆ‚ฃใ€‚" + "่ก€ๅฐๆฟ็„กๅŠ›็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ—ใ€่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ‚‚ใฎใฎ่ก€ๅฐๆฟ่†œ็ณ–่›‹็™ฝ๏ผˆGP๏ผ‰IIb/IIIaๆฌ ๆใซใ‚ˆใ‚Šใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณไพๅญ˜ๆ€งใฎ่ก€ๅฐๆฟๅ‡้›†ๆฌ ๅฆ‚ใ‚’็‰นๅพดใจใ™ใ‚‹่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200290NANDO:2200657
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_58_077_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_033_01.pdf
rdfs:label - "Double aortic arch disease" + "thrombasthenia" @en
rdfs:label - "้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡" + "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๅฐๆฟ็„กๅŠ›็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_58_077/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3101
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100100http://nanbyodata.jp/ontology/NANDO_2100195
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010119
skos:prefLabel - "้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡" + "่ก€ๅฐๆฟ็„กๅŠ›็—‡" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200291 +
http://nanbyodata.jp/ontology/NANDO_2200658 (rdf:type owl:Class @@ -110823,62 +167125,69 @@

hasNotificationNumber17hasNotificationNumber11
dcterms:description - "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นใ€ใŠใ‚ˆใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจใŠใ‚ˆใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ๅˆไฝตใฎไบˆๅพŒใฏๆ‚ชใ„ใ€‚" + "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200291NANDO:2200658
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_58_078_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_034_01.pdf
rdfs:label - "Vascular sling" + "Platelet secretion defects" @en
rdfs:label - "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใปใ†ใ—ใ‚…ใคใใ“ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_58_078/https://www.shouman.jp/disease/details/09_20_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100100http://nanbyodata.jp/ontology/NANDO_2100195
skos:prefLabel - "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡" + "่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200292 +
http://nanbyodata.jp/ontology/NANDO_2200659 (rdf:type owl:Class @@ -110886,62 +167195,69 @@

hasNotificationNumber19hasNotificationNumber14
dcterms:description - "ไธกๅดใฎ็ฌฌ4้ฐ“ๅผ“ๅ‹•่„ˆใฎ้บๆฎ‹ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใŒๅฝขๆˆใ•ใ‚Œใ€็™บ็”Ÿใฎ้Ž็จ‹ใงไธ€้ƒจใฎ่ก€็ฎกใŒ้€€็ธฎใƒปๆถˆๅคฑใ—ใ€่ก€็ฎก่ผชใŒ็”Ÿใ˜ใ‚‹ใ€‚็—…ๅž‹ใจใ—ใฆใฏๅณ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆๅดๅ‹•่„ˆ็ฎกใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅทฆ็ท้ ธๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€็„กๅๅ‹•่„ˆใซใ‚ˆใ‚‹ๅœง่ฟซใชใฉใŒใ‚ใ‚‹ใ€‚่ผช็ŠถใจใชใฃใŸ่ก€็ฎกใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใฎๅœง่ฟซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚็—…ๅž‹ใซใ‚ˆใฃใฆใฏFallotๅ››ๅพด็—‡ใชใฉใซๅˆไฝตใ—ใฆๅ‡บ็พใ€‚ๅ‘ผๅธๅ™จใƒปๆถˆๅŒ–ๅ™จ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใซ่ก€็ฎก่ผชใ‚’่งฃ้™คใ™ใ‚‹ๅค–็ง‘็š„ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200292NANDO:2200659
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_58_079_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช" + "33ใ‹ใ‚‰35ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใใฎใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" @ja
rdfs:label - "Vascular ring" + "Other platelet dysfunction" @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_58_079/https://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100100http://nanbyodata.jp/ontology/NANDO_2100195
skos:prefLabel - "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช" + "33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200293 +
http://nanbyodata.jp/ontology/NANDO_2200660 (rdf:type owl:Class @@ -110949,74 +167265,67 @@

hasNotificationNumber66
- dcterms:description - "ๅ…ˆๅคฉ็š„ใซๆ”ฏๆŒ็ต„็น”ใฎ่„†ๅผฑๆ€งใซใ‚ˆใ‚ŠValsalvaๆดžใฎไธ€้ƒจใŒๅณๅฎคใ‚‚ใ—ใใฏๅณๆˆฟใซ็˜ค็Šถใซ็ชๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ๆผๆ–—้ƒจๅฟƒๅฎคไธญ้š”ๆฌ ๆใซๅคงๅ‹•่„ˆๅผใจใƒใƒซใ‚ตใƒซใƒๆดžใŒ่ฝใก่พผใฟใ€ใƒใƒซใ‚ตใƒซใƒๆดžใฎๆ‹กๅคงใจๅผใฎ้€ธ่„ฑใ‚’ใใŸใ—ใŸใ‚‚ใฎใŒๅคšใ„ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏใƒใƒซใ‚ตใƒซใƒๆดžใง้–‰้Ž–ใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅค‰ๅฝขใ‹ใ‚‰้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใƒใƒซใ‚ตใƒซใƒๆดžใŒๅณๅฎคใชใฉไบค้€šใ‚’ไฝœใ‚‹ใ“ใจใŒใ‚ใ‚‹๏ผˆใƒใƒซใ‚ตใƒซใƒๆดž็ ด่ฃ‚๏ผ‰ใ€‚็ ด่ฃ‚ใ™ใ‚‹ใจใ€็ช็„ถใฎ่ƒธ็—›ใจใจใ‚‚ใซใ€ๅทฆๅณ็Ÿญ็ตกใ‚’ใใŸใ™ใ€‚ๆ‰‹่ก“้ฉๅฟœใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200293NANDO:2200660
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_59_080_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Aneurysm of sinus valsalva" + "Congenital thrombocytopenia with radio- ulnar synostosis" @en
rdfs:label - "ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค" + "ใจใ†ใ“ใคใ—ใ‚ƒใฃใ“ใคใ‚†ใ†ใ”ใ†ใ‚’ใจใ‚‚ใชใ†ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_59_080/https://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100101
- skos:altLabel - "Valsalvaๆดžๅ‹•่„ˆ็˜ค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200659
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015197http://purl.obolibrary.org/obo/MONDO_0011555
skos:prefLabel - "ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค" + "ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200294 +
http://nanbyodata.jp/ontology/NANDO_2200661 (rdf:type owl:Class @@ -111024,67 +167333,79 @@

hasNotificationNumber65
- dcterms:description - "ๅคงๅ‹•่„ˆใฎไธ€้ƒจใฎๅฃใŒใ€ๅ…จๅ‘จๆ€งใ€ใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆ‹กๅคงใพใŸใฏ็ชๅ‡บใ—ใŸ็Šถๆ…‹ใ€‚ๅฃใฎไธ€้ƒจใŒๅฑ€ๆ‰€็š„ใซๆ‹กๅผตใ—ใฆ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ๅ ดๅˆใ€ใพใŸใฏ็›ดๅพ„ใŒๆญฃๅธธๅพ„ใฎ1.5ๅ€๏ผˆ่ƒธ้ƒจใง45mm๏ผ‰ใ‚’่ถ…ใˆใฆๆ‹กๅคงใ—ใŸๅ ดๅˆใซ็˜คใจ็งฐใ—ใฆใ„ใ‚‹ใ€‚ๆ‹กๅคงใ—ใŸ่ก€็ฎกๅฃใฏ่„†ๅผฑใซใชใ‚Šๅคงๅ‹•่„ˆ่งฃ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใใชใ‚‹ใ€‚Marfan็—‡ๅ€™็พค๏ผˆใŠใ‚ˆใณ้กžไผผ็–พๆ‚ฃ๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงๅพ„55mmไปฅไธŠใฎ็˜คใซๅฏพใ—ใฆๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆโ€”ๅผ“้ƒจใฎ็˜คใฏๅค–็ง‘ๆฒป็™‚ใ€ไธ‹่กŒๅคงๅ‹•่„ˆใฎ็˜คใฏใ€ๆˆไบบใงใ‚ใ‚Œใฐใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๆ–ฝ่กŒใ•ใ‚Œใฆใ„ใชใ„ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200294NANDO:2200661
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_59_081_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Aortic aneurysm" + "Thrombocytopenia with absent radii" @en
rdfs:label - "ๅคงๅ‹•่„ˆ็˜ค" + "ใจใ†ใ“ใคใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_59_081/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3103
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100101http://nanbyodata.jp/ontology/NANDO_2200659
+ skos:altLabel + "TAR ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005160http://purl.obolibrary.org/obo/MONDO_0010121
skos:prefLabel - "ๅคงๅ‹•่„ˆ็˜ค" + "ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200295 +
http://nanbyodata.jp/ontology/NANDO_2200662 (rdf:type owl:Class @@ -111092,62 +167413,81 @@

hasNotificationNumber70
- dcterms:description - "็—…็†ๅญฆ็š„ใซใฏๆ•ฐ็จฎ้กžใŒๅŒบๅˆฅใ•ใ‚Œใ‚‹ใŒใ€็—…ๆ…‹็”Ÿ็†ๅญฆ็š„ใซ่‚บๅ‹•่„ˆใŒ่‚บๆฏ›็ดฐ่ก€็ฎกใ‚’็ตŒ้Žใ›ใšใซ่‚บ้™่„ˆใซๆŽฅ็ถšใ™ใ‚‹ๅ ดๅˆใ‚’่‚บๅ‹•้™่„ˆ็—ฎใจใ‚ˆใถใ€‚่งฃๅ‰–๏ผšๅคงใพใ‹ใซใฏ4็จฎ้กžใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฎ่ก€็ฎก่…ซๅž‹ใฏๅคšๆ•ฐใฎ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใจ่‚บ้™่„ˆใŒใคใชใŒใ‚‹ใ€‚็ฌฌไบŒใฎๅ‹•่„ˆ็˜คๅž‹ใงใฏ็ƒๅž‹ใ€ใพใŸใฏๆ‹กๅผตใ—ใŸ็ฎก็Šถ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใŒ่‚บ้™่„ˆใซใคใชใŒใ‚‹ใ€‚็ฌฌไธ‰ใฎ่‚บๅ‹•่„ˆๅทฆๆˆฟไบค้€š็—‡ใงใฏๅณ่‚บๅ‹•่„ˆใฎๆžใŒ็›ดๆŽฅๅทฆๆˆฟใซใคใชใŒใ‚‹ใ€‚็ฌฌๅ››ใฎใณใพใ‚“ๆ€งใฎๅž‹ใงใฏใ€ๅ…จ่‚บ้‡Žใซใ‚ใŸใ‚Šใ€่‚บๅ‹•่„ˆๆŠนๆถˆใง็„กๆ•ฐใฎๆ‹กๅผตใ—ใŸๅฐ่ก€็ฎกใŒๅ‹•้™่„ˆ็˜ปใ‚’ๅฝขๆˆใ™ใ‚‹ๅž‹ใงใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹๏ผš่‚บๅ‹•่„ˆใฎ้™่„ˆ่ก€ใŒ้…ธ็ด ๅŒ–ใ•ใ‚Œใšใซ่‚บ้™่„ˆใธๆตใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅœงใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ่‚บ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆ่ก€ใฎ้…ธ็ด ้ฃฝๅ’Œๅบฆใฏๆง˜ใ€…ใช็จ‹ๅบฆใซไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ๅฟƒๆ‹ๅ‡บ้‡ใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง่‚บๅˆ‡้™คใ™ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚Œใšใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปใงใ‚ใ‚‹ใ€‚็˜ปใŒใณใพใ‚“ๆ€งใฎๆ™‚ใฏใ€ๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ€€็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ใณใพใ‚“ๆ€งใงใชใ„ๆ™‚ใฏใ€ๆฒป็™‚ๅพŒใฏไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใชใจใใฏไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200295NANDO:2200662
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_60_082_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Pulmonary arteriovenous fistulae" + "Familial platelet disorder with propensity to myeloid." @en
rdfs:label - "่‚บๅ‹•้™่„ˆ็˜ป" + "ใ“ใคใšใ„ใ‚ใใ›ใ„ใ—ใ‚…ใ‚ˆใ†ใ‘ใ„ใ“ใ†ใ‚’ใจใ‚‚ใชใ†ใ‹ใžใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_60_082/https://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100102http://nanbyodata.jp/ontology/NANDO_2200659
+ skos:altLabel + "FPDMM" + @en
+ skos:altLabel + "Familial Platelet Disorder with Associated Myeloid Malignancy" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100083
skos:prefLabel - "่‚บๅ‹•้™่„ˆ็˜ป" + "้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200296 +
http://nanbyodata.jp/ontology/NANDO_2200663 (rdf:type owl:Class @@ -111155,62 +167495,79 @@

hasNotificationNumber69
- dcterms:description - "ๅณใพใŸใฏๅทฆใฎๅ† ็Šถๅ‹•่„ˆใŒ็˜ปใฎ่ก€็ฎกใ‚’ไป‹ใ—ใฆ็›ดๆŽฅๅฟƒใ€ใพใŸใฏๅคง่ก€็ฎก่…”ใซ้–‹ใ„ใฆใ„ใ‚‹ใ€‚็Ÿญ็ตกใŒๅคšใ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใซใฏไนณๅ…ๆœŸใซๅคšๅ‘ผๅธใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใชใฉใฎๅฟƒไธๅ…จใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตฝใŒๅฐ‘ใชใ„ๅ ดๅˆใซใฏๅฐๅ…ๆœŸใซใฏๅฟƒ่‡“ใฎ้›‘้Ÿณใ‚’ๅ‘ˆใ™ใ‚‹ใ ใ‘ใงใ€็‰นๅˆฅใฎ็—‡็Šถใฏใชใ„ใ€‚ๅฟƒๅ†…่†œ็‚Žไบˆ้˜ฒใ€ๅฟƒไธๅ…จใ€ๅฟƒ็ญ‹่™š่ก€ใ€็˜ปใฎ็ ด่ฃ‚ใƒชใ‚นใ‚ฏใŒๆฒป็™‚้ฉๅฟœใงใ‚ใ‚‹ใ€‚ๅฐใ•ใช็˜ป่ก€็ฎกใฎๆฒป็™‚้ฉๅฟœใฏใชใ„ใ€‚ๅนด้ฝขใจใจใ‚‚ใซ็˜ป่ก€็ฎกใฏๆ‹กๅคงใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใงใ€ใ‚ใ‚‹็จ‹ๅบฆไปฅไธŠใฎ็˜ป่ก€็ฎกใชใ‚‰ๆฒป็™‚้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใ™ใ‚‹ใ€‚่ก“ๅพŒใ€ๆŠ—่ก€ๅฐๆฟ่–ฌใ‚„ๆŠ—ๅ‡ๅ›บ่–ฌใŒๅฟ…่ฆใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ก“ๅพŒใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ๅ† ๅ‹•่„ˆใฎๆ‹กๅคงใŒ็„กใ„ใจใใฏใ€ไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใ‚‚ๅคงใใช็˜ป่ก€็ฎกใ‚„ๅ† ๅ‹•่„ˆใŒๆฎ‹ๅญ˜ใ™ใ‚‹ใจใใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200296NANDO:2200663
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_60_083_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Coronary artery fistula" + "Autosomal dominant thrombocytopenia 2" @en
rdfs:label - "ๅ† ๅ‹•่„ˆ็˜ป" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_60_083/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1525
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100102http://nanbyodata.jp/ontology/NANDO_2200659
+ skos:altLabel + "THC2" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008555
skos:prefLabel - "ๅ† ๅ‹•่„ˆ็˜ป" + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200297 +
http://nanbyodata.jp/ontology/NANDO_2200664 (rdf:type owl:Class @@ -111218,62 +167575,65 @@

hasNotificationNumber71
- dcterms:description - "ๅ‹•่„ˆใจ้™่„ˆใŒๆฏ›็ดฐ่ก€็ฎกใ‚’้€šใ•ใš็•ฐๅธธ่ก€็ฎกใงไบค้€šใ—ใฆใ„ใ‚‹็—…ๆ…‹ใ€‚ ้ ญ่“‹ๅ†…ใ€่‚่‡“ใ€ๅ››่‚ขใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅ‹•่„ˆ่ก€ใŒ็›ดๆŽฅ้™่„ˆใซ้‚„ๆตใ™ใ‚‹ใŸใ‚ใ€ๅณๅฟƒ็ณปใซๅฎน้‡่ฒ ่ทใ‚’ใใŸใ—ๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใŒใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใชใ„ใ—ๅˆ‡้™คใ™ใ‚‹ใ€‚ไบˆๅพŒใฏ้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใŸใ‚Šใ€ๆฒป็™‚ๅ›ฐ้›ฃใช้ƒจไฝใซใ‚ใ‚‹ๆ™‚ใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200297NANDO:2200664
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_60_084_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป" + "GPIIb/IIIa็•ฐๅธธ็—‡" @ja
rdfs:label - "Arteriovenous fistulae" + "ITGA2B/ITGB3 mutations" @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_60_084/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3101
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100102http://nanbyodata.jp/ontology/NANDO_2200659
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010119
skos:prefLabel - "82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป" + "GPIIb/IIIa็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200298 +
http://nanbyodata.jp/ontology/NANDO_2200665 (rdf:type owl:Class @@ -111281,72 +167641,72 @@

hasNotificationNumber83
- dcterms:description - "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœงใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆๅญฟ็ธฎใŒ็”Ÿใ˜ใ€ใใ“ใซ่ก€็ฎกๅฃใฎ่‚ฅๅŽšๆ€งๅค‰ๅŒ–ใ‚„่ก€็ฎก้š›ๆง‹็ฏ‰ใชใฉใฎๅŸบ่ณช็š„็—…ๅค‰ใŒๅŠ ใ‚ใ‚Šๆƒน่ตทใ•ใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‚บใฎ็ญ‹ๆ€งๅ‹•่„ˆใ‚„็ดฐๅ‹•่„ˆใฎไธญ่†œใ€ๅ†…่†œ่‚ฅๅŽšใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใฎ่ก€ๅœงใŒ้ซ˜ใพใ‚Šใ€ๅฟƒๆ‹ๅ‡บ้‡ไฝŽไธ‹ใ‚’็”Ÿใ˜ใ€ๅณๅฟƒไธๅ…จใ‚’ใฏใ˜ใ‚ๅฟƒ่‡“ใ‚„่‚บใฎๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ใ‚‚ใŸใ‚‰ใ™ใ€้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใ€‚ๅŽŸๅ› ใฏใ€BMPR2ใ€ALK1ใ€Endoglinใชใฉใฎ้บไผๅญ็•ฐๅธธใŒๅญ˜ๅœจใ™ใ‚‹ใ‚‚ใฎใจใ€ๆœชใ ้บไผๅญ็•ฐๅธธใŒใ‚ใใ‚‰ใ‹ใงใชใ„ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใงใ€้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ๆง˜ใ€…ใช่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใŒ้–‹็™บใ•ใ‚Œใ€่‡จๅบŠไฝฟ็”จใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใ‚Šใ€ไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใฆใ„ใ‚‹ใŒใ€ใใ‚Œใงใ‚‚ไพ็„ถไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใซใฏๅค‰ใ‚ใ‚Šใชใ„ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200298NANDO:2200665
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_61_085_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Idiopathic pulmonary arterial hypertension" + "ACTN1 mutations" @en
rdfs:label - "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + "ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใ‚ใ‚‹ใตใใ‚ใใกใซใ‚“1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01621http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8362
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_61_085/https://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100103http://nanbyodata.jp/ontology/NANDO_2200659
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017147http://purl.obolibrary.org/obo/MONDO_0014078
skos:prefLabel - "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + "ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + + "ใฑใ‚Šใจใ‚‹ใใƒผ/ใ‚„ใ“ใถใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - +
http://nanbyodata.jp/ontology/nando#2200299 +
http://nanbyodata.jp/ontology/NANDO_2200666 (rdf:type owl:Class @@ -111354,62 +167714,62 @@

hasNotificationNumber94
- dcterms:description - "่‚บใฎ็–พๆ‚ฃใฎๅญ˜ๅœจใซใ‚ˆใ‚‹่‚บๅพช็’ฐใฎ้šœๅฎณใซใ‚ˆใฃใฆ่‚บๅ‹•่„ˆๅœงใฎไธŠๆ˜‡ใ‚’ใใŸใ—ใ€ๅณๅฟƒไธๅ…จใซ้™ฅใ‚‹็—…ๆ…‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ…ขๆ€ง่‚บ็–พๆ‚ฃใ€้ซ˜ๅบฆใฎๆ‰ๆกƒ่‚ฅๅคงใซใ‚ˆใ‚‹ๆฐ—้“้–‰ๅกžใ€ๆ„ŸๆŸ“ๆ€ง่‚บ็–พๆ‚ฃใ€ๅ–˜ๆฏใชใฉใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใ€ไฝŽๅ‡บๅพไฝ“้‡ๅ…ใฎ้•ทๆœŸไบบๅทฅๅ‘ผๅธ็ฎก็†ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃbronchopulmonary dysplasiaใชใฉใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏ้–“่ณชๆ€ง่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ€้•ทๅนดใฎๅ–ซ็…™ใซใ‚ˆใ‚‹่‚บ้šœๅฎณใชใฉใŒๅŽŸๅ› ใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใซใฏๅพช็’ฐ้šœๅฎณใฎๅŽŸๅ› ใจใชใฃใฆใ„ใ‚‹่‚บใฎ็–พๆ‚ฃใฎๆฒป็™‚ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใซๅฏพใ—ใฆใฏใ€่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’็”จใ„ใ‚‹ใ€‚ๅณๅฟƒไธๅ…จใซๅฏพใ—ใฆใฏๆŠ—ๅฟƒไธๅ…จ็™‚ๆณ•ใ‚’ใŠใ“ใชใ†ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200299NANDO:2200666
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_62_086_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Chronic cor pulmonale" + "Paris-Trousseau/Jacobsen็—‡ๅ€™็พค" + @ja
+ rdfs:label + "Paris-trousseau/Jacobsen syndrome" @en
rdfs:label - "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_62_086/https://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100104http://nanbyodata.jp/ontology/NANDO_2200659
skos:prefLabel - "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ" + "Paris-Trousseau/Jacobsen็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + - - - - - - - - - - - - - + - - -
http://nanbyodata.jp/ontology/nando#2200300 +
http://nanbyodata.jp/ontology/NANDO_2200667 (rdf:type owl:Class @@ -111417,135 +167777,86 @@

hasNotificationNumber37
- dcterms:description - "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆใ€ๅฟƒๆˆฟใ‹ใ‚‰ๅณๅฟƒๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๆฏ”่ผƒ็š„็จ€ใชๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไธ‰ๅฐ–ๅผๅฐ–ใ€่…ฑ็ดขใ€ไนณ้ ญ็ญ‹ใŒไฝŽๅฝขๆˆใงใ€ๅผ่ผช็‹ญ็ช„ใ‚’ใจใ‚‚ใชใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ใฎ็จ‹ๅบฆใซๅฟœใ˜ใฆใ€ๆ‰‹่ก“้ฉๅฟœใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200300NANDO:2200667
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_087_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Tricuspid valve stenosis" + "ฮฒ-1 tubulin disorders" @en
rdfs:label - "ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" + "ฮฒ1 tubulin ็•ฐๅธธ็—‡" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_087/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005997
- skos:prefLabel + rdfs:label - "ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡" - @ja
- - - - - - + "ในใƒผใŸ1ใกใ‚…ใƒผใถใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - - + + - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200301 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber38
- dcterms:description - "ไธ‰ๅฐ–ๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใฃใฆๅณๅฟƒๅฎคใ‹ใ‚‰ๅณๅฟƒๆˆฟใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผไป˜ๅฑžๅ™จ๏ผˆไนณ้ ญ็ญ‹ใ‚„่…ฑ็ดข๏ผ‰ใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้–‰้Ž–ไธๅ…จใŒ้ซ˜ๅบฆใ ใจใ€ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7358
- dcterms:identifier2200301 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_088_01.pdf + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200659
- rdfs:label + skos:altLabel - "Tricuspid valve regurgitation" + "Beta-1 tubulin disorders" @en
- rdfs:label + skos:altLabel - "ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ฮฒ1-ใƒใƒฅใƒผใƒ–ใƒชใƒณ้บไผๅญ็•ฐๅธธ็—‡" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_088/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002870http://purl.obolibrary.org/obo/MONDO_0013141
skos:prefLabel - "ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ฮฒ1 tubulin ็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200302 +
http://nanbyodata.jp/ontology/NANDO_2200668 (rdf:type owl:Class @@ -111553,67 +167864,79 @@

hasNotificationNumber39
- dcterms:description - "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใƒชใ‚ฆใƒžใƒๆ€งใ‚‚ใ‚ใ‚‹ใŒใ€ๅฐๅ…ใงใฏๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„ใฏๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200302NANDO:2200668
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_089_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Mitral valve stenosis" + "platelet-type von willebrand disease" @en
rdfs:label - "ๅƒงๅธฝๅผ็‹ญ็ช„็—‡" + "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใŒใŸใตใ‰ใ‚“ใƒปใณใ‚‹ใถใ‚‰ใ‚“ใฉใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_089/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1314
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105http://nanbyodata.jp/ontology/NANDO_2200659
+ skos:altLabel + "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005852http://purl.obolibrary.org/obo/MONDO_0008332
skos:prefLabel - "ๅƒงๅธฝๅผ็‹ญ็ช„็—‡" + "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200303 +
http://nanbyodata.jp/ontology/NANDO_2200669 (rdf:type owl:Class @@ -111621,67 +167944,72 @@

hasNotificationNumber40
- dcterms:description - "ๅƒงๅธฝๅผใŠใ‚ˆใณๅผไป˜ๅฑžๅ™จใฎ็•ฐๅธธใซใ‚ˆใ‚ŠๅŽ็ธฎๆœŸใซๅทฆๅฎคใ‹ใ‚‰ๅทฆๆˆฟใธใฎ้€†ๆตใŒ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅƒงๅธฝๅผ้€ธ่„ฑ็—‡ๅ€™็พคใ€Marfan็—‡ๅ€™็พคใ€Ehlers-Danlos็—‡ๅ€™็พคใ€ๅทๅดŽ็—…ๅพŒๅ† ๅ‹•่„ˆ็˜คใ€ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใ€ไนณๅ…่…ฑ็ดขๆ–ญ่ฃ‚ใชใฉใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใซใฏๆฒป็™‚ใฏไธ่ฆใฎใ“ใจใŒๅคšใ„ใ€‚ไธญ็ญ‰็—‡ใซใฏๅ†…็ง‘ๆฒป็™‚ใ€้‡็—‡ไพ‹ใซใฏๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ไบˆๅพŒใฏใ€ๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200303NANDO:2200669
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_090_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Mitral valve stenosis" + "ADP receptor deficiencies" @en
rdfs:label - "ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใˆใƒผใงใƒใƒผใดใƒผใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_090/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6627
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105http://nanbyodata.jp/ontology/NANDO_2200659
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005852http://purl.obolibrary.org/obo/MONDO_0012354
skos:prefLabel - "ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200304 +
http://nanbyodata.jp/ontology/NANDO_2200670 (rdf:type owl:Class @@ -111689,67 +168017,86 @@

hasNotificationNumber43
- dcterms:description - "่‚บๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅณๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ˜็‹ฌใฎใ‚‚ใฎใŠใ‚ˆใณFallotๅ››ๅพด็—‡ใชใฉไป–็–พๆ‚ฃใซๅˆไฝตใ—ใŸใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅฟƒใ‚จใ‚ณใƒผใ€ๅฟƒ่‡“ใ‚ซใƒ†ใƒผใƒ†ใƒซๆคœๆŸปใ‹ใ‚‰้‡็—‡ๅบฆใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚๏ผ‘๏ผ‰ ่ปฝ็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธ‹ใ€ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธ‹๏ผ’๏ผ‰ ไธญ็ญ‰็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธŠใ€ไฝ“่ก€ๅœงใพใง๏ผ“๏ผ‰ ้‡็—‡๏ผšไฝ“่ก€ๅœงไปฅไธŠใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใ€ๅ‹•่„ˆ็ฎกใซ่‚บๅพช็’ฐใŒไพๅญ˜ใ—ใฆใ„ใ‚‹ไพ‹ใฏใ€ใจใใซ้‡็—‡ใงใ‚ใ‚‹ใ€‚ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธŠใฎๅ ดๅˆใฏๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๆฒป็™‚ใฏใ€็ตŒ็šฎ็š„ใ‚ซใƒ†ใƒผใƒ†ใƒซ่‚บๅ‹•่„ˆๅผๆ‹กๅผต่ก“ใ‹ๆ‰‹่ก“ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚ŒใชใใชใฃใŸใ€‚ๆฒป็™‚ๅพŒใฎไบˆๅพŒใฏใ€ๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200304NANDO:2200670
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_091_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Pulmonary valve stenosis" + "Abnormalities in platelet collagen receptors" @en
rdfs:label - "่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" + "ใ“ใ‚‰ใƒผใ’ใ‚“ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_091/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7920
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105http://nanbyodata.jp/ontology/NANDO_2200659
+ skos:altLabel + "GPVI deficiency" + @en
+ skos:altLabel + "GPVIๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006936http://purl.obolibrary.org/obo/MONDO_0013623
skos:prefLabel - "่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" + "ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200305 +
http://nanbyodata.jp/ontology/NANDO_2200671 (rdf:type owl:Class @@ -111757,67 +168104,84 @@

hasNotificationNumber44
- dcterms:description - "่‚บๅ‹•่„ˆใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใ‹ใ‚‰ๅณๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไป–็–พๆ‚ฃใซๅˆไฝตใ€ใ‚ใ‚‹ใ„ใฏ่ก“ๅพŒใซ่ชใ‚ใ‚‹ใ“ใจใฏๅคšใ„ใŒใ€ๅ…ˆๅคฉ็š„ใชใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚้ซ˜ๅบฆไพ‹ใงใฏๆ‰‹่ก“็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200305NANDO:2200671
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_092_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Pulmonary valve regurgitation" + "Scott syndrome" @en
rdfs:label - "่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ใ™ใ“ใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_092/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2869
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01162
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105http://nanbyodata.jp/ontology/NANDO_2200659
+ skos:altLabel + "Scott็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001927http://purl.obolibrary.org/obo/MONDO_0009885
skos:prefLabel - "่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใƒใถใ‚Šใฎใƒผใ’ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - + - - + +
http://nanbyodata.jp/ontology/nando#2200306 +
http://nanbyodata.jp/ontology/NANDO_2200672 (rdf:type owl:Class @@ -111825,82 +168189,76 @@

hasNotificationNumber41hasNotificationNumber31
dcterms:description - "ๅคงๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใฎๆœ‰็—…็Ž‡ใฏ2-3%ใจใ‚‚่จ€ใ‚ใ‚Œใ€ๅคงๅ‹•่„ˆๅผใซ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ไบบๅฃใฏๅฐ‘ใชใใชใ„ใŒใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใฎใฏใใฎไธ€้ƒจใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใƒป่ƒŽๅ…ๆœŸใ‹ใ‚‰้‡็—‡ๅฟƒไธๅ…จ๏ผˆไฝŽๅฟƒๆ‹ๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใงใฏ็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€่ปฝใƒปไธญ็ญ‰็—‡ใซใŠใ„ใฆใ‚‚ๅŠ ้ฝขใจใจใ‚‚ใซ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใใ€้‹ๅ‹•ๆ™‚ๆฏๅˆ‡ใ‚Œใ€ๆ˜“็–ฒๅŠดๆ„Ÿใ‹ใ‚‰้‹ๅ‹•ๆ™‚่ƒธ็—›ใ€ๅคฑ็ฅžใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚Šๆ™‚ใซ็ช็„ถๆญปใ‚’่ตทใ“ใ™ใ€‚ไธญ็ญ‰็—‡ไปฅไธŠใซใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๅค–็ง‘็š„ๆฒป็™‚๏ผˆๅค–็ง‘็š„ไบค้€ฃๅˆ‡้–‹่ก“ใ‚ใ‚‹ใ„ใฏๅผ็ฝฎๆ›่ก“๏ผ‰ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200306NANDO:2200672
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_093_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_036_01.pdf
rdfs:label - "Aortic valve stenosis" + "Afibrinogenemia" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8176 + rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_093/https://www.shouman.jp/disease/details/09_21_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004978
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013902http://nanbyodata.jp/ontology/NANDO_2100196
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0042981 + skos:altLabel + "Afibrinogenaemia" + @en
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡" + "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200307 +
http://nanbyodata.jp/ontology/NANDO_2200673 (rdf:type owl:Class @@ -111908,62 +168266,76 @@

hasNotificationNumber42hasNotificationNumber32
dcterms:description - "ๅคงๅ‹•่„ˆๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šๅคงๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใงใฏๅŠ ้ฝขใจใจใ‚‚ใซใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™็Ž‡ใŒไธŠใŒใฃใฆใใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ๏ผˆไพ‹ใˆใฐใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅคง่ก€็ฎก่ปขๆ›็—‡Jatene่ก“ๅพŒใชใฉ๏ผ‰ใ‚„็ตๅˆ็น”็—…๏ผˆMarfan็—‡ๅ€™็พคใชใฉ๏ผ‰ใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคๅฎน้‡่ฒ ่ทไพ‹ใงใฏใ€้€†ๆตใฎ้€ฒ่กŒใ‚’้˜ฒใ็›ฎ็š„ใง่ก€็ฎกๆ‹กๅผต่–ฌใŒๆŠ•ไธŽใ•ใ‚Œใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจใ€ไธ€่ˆฌ็š„ใซใฏๅคงๅ‹•่„ˆๅผ็ฝฎๆ›่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆๆ‹กๅคงใฎๅผทใ„ๅ ดๅˆใซใฏไธŠ่กŒๅคงๅ‹•่„ˆๅŸบ้ƒจ็ฝฎๆ›่ก“(Bentallๆ‰‹่ก“)ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200307NANDO:2200673
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_63_094_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_037_01.pdf
rdfs:label - "Aortic valve regurgitation" + "Hypoprothrombinemia" @en
rdfs:label - "ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_63_094/https://www.shouman.jp/disease/details/09_21_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100105http://nanbyodata.jp/ontology/NANDO_2100196
+ skos:altLabel + "Hypoprothrombinaemia" + @en
skos:prefLabel - "ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡" + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200308 +
http://nanbyodata.jp/ontology/NANDO_2200674 (rdf:type owl:Class @@ -111971,62 +168343,74 @@

hasNotificationNumber55hasNotificationNumber33
dcterms:description - "ๅƒงๅธฝๅผ่ผช็›ดไธŠใฎๅฟƒๆˆฟๅดใซ่ตทๅง‹ใ™ใ‚‹่†œ็”จใฎ้š†่ตท็‰ฉใŒๅ…จๅ‘จๆ€งใซๅƒงๅธฝๅผใ‚’่ฆ†ใ„ใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็‹ญ็ช„็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ่†œๆง˜็‰ฉใฏๅทฆๅฟƒ่€ณใ‚ˆใ‚Šใ‚‚ๅƒงๅธฝๅผๅดใซใ‚ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉใฎไป–ใฎๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆœ‰ๆ„ใช็‹ญ็ช„ใงใ€่‚บใ†ใฃ่ก€ใ‚„่‚บ้ซ˜่ก€ๅœงใ‚’ใใŸใ™ไพ‹ใงใฏใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200308NANDO:2200674
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_64_095_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_038_01.pdf
rdfs:label - "Supramitral ring" + "factor V deficiency" @en
rdfs:label - "ๅƒงๅธฝๅผๅผไธŠ่ผช" + "ใ ใ„5ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_64_095/https://www.shouman.jp/disease/details/09_21_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100106http://nanbyodata.jp/ontology/NANDO_2100196
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020586
skos:prefLabel - "ๅƒงๅธฝๅผๅผไธŠ่ผช" + "็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + "ใ ใ„7ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200309 +
http://nanbyodata.jp/ontology/NANDO_2200675 (rdf:type owl:Class @@ -112034,72 +168418,74 @@

hasNotificationNumber75hasNotificationNumber34
dcterms:description - "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200309NANDO:2200675
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_65_096_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_039_01.pdf
rdfs:label - "Asplenia syndrome" + "factor VII deficiency" @en
rdfs:label - "็„ก่„พ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1803 + rdfs:label + "็ฌฌVIIๅ› ๅญๆฌ ไน็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_65_096/https://www.shouman.jp/disease/details/09_21_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100107http://nanbyodata.jp/ontology/NANDO_2100196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008832http://purl.obolibrary.org/obo/MONDO_0002244
skos:prefLabel - "็„ก่„พ็—‡ๅ€™็พค" + "็ฌฌVIIๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200310 +
http://nanbyodata.jp/ontology/NANDO_2200676 (rdf:type owl:Class @@ -112107,77 +168493,91 @@

hasNotificationNumber74hasNotificationNumber29
dcterms:description - "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚" + "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200310NANDO:2200676
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_65_097_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_040_01.pdf
rdfs:label - "Polysplenia syndrome" + "Hemophilia A" @en
rdfs:label - "ๅคš่„พ็—‡ๅ€™็พค" + "ใ‘ใคใ‚†ใ†ใณใ‚‡ใ†ใˆใƒผ" + @ja-Hira
+ rdfs:label + "่ก€ๅ‹็—…๏ผก" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1803http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3426
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01764http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=586
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_65_097/https://www.shouman.jp/disease/details/09_21_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100107http://nanbyodata.jp/ontology/NANDO_2100196
+ skos:altLabel + "Haemophilia A" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008832http://purl.obolibrary.org/obo/MONDO_0010602
skos:prefLabel - "ๅคš่„พ็—‡ๅ€™็พค" + "่ก€ๅ‹็—…๏ผก" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "Haemophilia B" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200311 +
http://nanbyodata.jp/ontology/NANDO_2200677 (rdf:type owl:Class @@ -112185,69 +168585,86 @@

hasNotificationNumber90hasNotificationNumber30
dcterms:description - "2ๅฟƒๅฎคไฟฎๅพฉใŒไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€ๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹็–พๆ‚ฃใซๅฏพใ—ใฆใ€Fontanๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Fontanๆ‰‹่ก“ใซใฏใ€ๅฟƒๆˆฟใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใ‚„ใ€ไธŠๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ€ไธ‹ๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใชใฉใŒใ‚ใ‚‹ใ€‚Fontan่ก“ๅพŒใ€ไธปใซ้ ้š”ๆœŸใซใ€ไธๆ•ด่„ˆใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€่ก€ๆ “ๅกžๆ “็—‡ใ€่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ€ๅฟƒไธๅ…จใ€่‚บ้ซ˜่ก€ๅœงใ€่‚็กฌๅค‰ใ€่‚ใŒใ‚“ใ€่…Žไธๅ…จใชใฉๅ…จ่บซใฎ่‡“ๅ™จไธๅ…จใ‚’ใใŸใ™็—‡ๅ€™็พคใ€‚ๆ นๆœฌๆฒป็™‚ใŒ็„กใ„ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200311NANDO:2200677
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_04_66_098_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_041_01.pdf
rdfs:label - "Post-Fontan syndrome" + "Hemophilia B" @en
rdfs:label - "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค" + "ใ‘ใคใ‚†ใ†ใณใ‚‡ใ†ใณใƒผ" + @ja-Hira
+ rdfs:label + "่ก€ๅ‹็—…๏ผข" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_66_098/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3428
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100108http://nanbyodata.jp/ontology/NANDO_2100196
skos:altLabel - "Fontan่ก“ๅพŒ็—‡ๅ€™็พค" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010604
skos:prefLabel - "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค" + "่ก€ๅ‹็—…๏ผข" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200312 +
http://nanbyodata.jp/ontology/NANDO_2200678 (rdf:type owl:Class @@ -112255,67 +168672,79 @@

hasNotificationNumber5hasNotificationNumber35
dcterms:description - "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200312NANDO:2200678
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_042_01.pdf
rdfs:label - "Congenital hypopituitarism" + "factor X deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ ใ„10ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_01_001/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02257
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100110http://nanbyodata.jp/ontology/NANDO_2100196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018762http://purl.obolibrary.org/obo/MONDO_0002247
skos:prefLabel - "ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200313 +
http://nanbyodata.jp/ontology/NANDO_2200679 (rdf:type owl:Class @@ -112323,67 +168752,74 @@

hasNotificationNumber4hasNotificationNumber36
dcterms:description - "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200313NANDO:2200679
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_043_01.pdf
rdfs:label - "Acquired hypopituitarism" + "factor XI deficiency" @en
rdfs:label - "ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ ใ„11ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฌฌXIๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_01_002/https://www.shouman.jp/disease/details/09_21_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100110http://nanbyodata.jp/ontology/NANDO_2100196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019832http://purl.obolibrary.org/obo/MONDO_0020587
skos:prefLabel - "ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "็ฌฌXIๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200314 +
http://nanbyodata.jp/ontology/NANDO_2200680 (rdf:type owl:Class @@ -112391,72 +168827,79 @@

hasNotificationNumber6hasNotificationNumber37
dcterms:description - "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใฏ๏ผŒ้ชจ็ซฏ่ปŸ้ชจ็ทšใŒ้–‰้Ž–ใ™ใ‚‹ๅ‰ใซ็™บ็—‡ใ—ใ€ไธปใซไธ‹ๅž‚ไฝ“ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)็”ฃ็”Ÿ่…บ่…ซใซใ‚ˆใ‚‹้ซ˜่บซ้•ท็—‡ใงใ‚ใ‚‹๏ผŽ้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซ็™บ็—‡ใ—ใŸๅ ดๅˆใซใฏ๏ผŒๅ…ˆ็ซฏๅทจๅคง็—‡ใจใชใ‚‹๏ผŽๅ…ˆ็ซฏๅทจๅคง็—‡ใจใฎ้•ใ„ใฏ๏ผŒๅฐๅ…ๆœŸใซใŠใ„ใฆใฏๅ‰ฏ็—‡ๅ€™ใŒ่‘—ๆ˜Žใงใฏใชใ๏ผŒ่บซ้•ท็™บ่‚ฒใŒ็ฎธๆ˜Žใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹๏ผŽ" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200314NANDO:2200680
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_02_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_044_01.pdf
rdfs:label - "Pituitary gigantism" + "factor XII deficiency" @en
rdfs:label - "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" + "ใ ใ„12ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฌฌXIIๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01618http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2304
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_02_003/https://www.shouman.jp/disease/details/09_21_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100111http://nanbyodata.jp/ontology/NANDO_2100196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020479http://purl.obolibrary.org/obo/MONDO_0009315
skos:prefLabel - "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡" + "็ฌฌXIIๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200315 +
http://nanbyodata.jp/ontology/NANDO_2200681 (rdf:type owl:Class @@ -112464,72 +168907,84 @@

hasNotificationNumber55hasNotificationNumber38
dcterms:description - "ๅ…ˆ็ซฏๅทจๅคง็—‡(acromegaly)ใฏใ€้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ใŒ้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽๆ‰‹่ถณๆœซ็ซฏใฎ่‚ฅๅคงใ‚„้ก”่ฒŒใฎๅค‰ๅŒ–ใซๅŠ ใˆใฆ๏ผŒ็ณ–ๅฐฟ็—…ใชใฉใฎไปฃ่ฌ็•ฐๅธธ๏ผŒๅฟƒ่‚ฅๅคงใ‚„ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใชใฉใฎๅพช็’ฐๅ™จใ‚„ๅ‘ผๅธๅ™จๅˆไฝต็—‡๏ผŒๆ›ดใซ่…ซ็˜ใฎ็™บ่‚ฒใ‚’ไฟƒ้€ฒใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ ๆณจ๏ผš้ชจ็ซฏ็ทš้–‰้Ž–ๅ‰ใซGHใฎ้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใšใ‚‹ใจ้ซ˜่บซ้•ทใจใชใ‚Š๏ผŒไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200315NANDO:2200681
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_03_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_045_01.pdf
rdfs:label - "Acromegaly" + "factor XIII deficiency" @en
rdfs:label - "ๅ…ˆ็ซฏๅทจๅคง็—‡" + "ใ ใ„13ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01483https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00945
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_03_004/https://www.shouman.jp/disease/details/09_21_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100112http://nanbyodata.jp/ontology/NANDO_2100196
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019933http://purl.obolibrary.org/obo/MONDO_0002241
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018029
skos:prefLabel - "ๅ…ˆ็ซฏๅทจๅคง็—‡" + "็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200316 +
http://nanbyodata.jp/ontology/NANDO_2200682 (rdf:type owl:Class @@ -112537,69 +168992,93 @@

hasNotificationNumber45hasNotificationNumber39
dcterms:description - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ ญ่“‹็…งๅฐ„ใฎๆ—ขๅพ€๏ผŒ้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œ้ ญ้ƒจMRIๆคœๆŸปใงไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งGHDใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใ๏ผ‰ใง่ฟฐในใ‚‹ใ€‚" + "von Willebrand็—…๏ผˆVWD๏ผ‰ใฏvon Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใ‚’ๆฅใ™้บไผๆ€งๅ‡บ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚von Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฏๅˆ†ๅญ้‡็ด„500๏ฝ‹Da-20,000kDaใซๅŠใถใƒžใƒซใƒใƒžใƒผๆง‹้€ ใ‚’ๅฝขๆˆใ™ใ‚‹้ซ˜ๅˆ†ๅญ้‡ใฎ็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚Šใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ‚„้ชจ้ซ„ๅทจๆ ธ็ƒใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚VWFใฏ่ก€็ฎกๆๅ‚ท้ƒจไฝใซใŠใ„ใฆ่ก€ๅฐๆฟใ‚’ๅ†…็šฎไธ‹็ตๅˆ็ต„็น”ใธ็ฒ˜็€ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚’ๆœ‰ใ—ใ€ไธ€ๆฌกๆญข่ก€ใซใŠใ„ใฆๆฅตใ‚ใฆ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚VWFใฏๅคงๅฐๆง˜ใ€…ใชใƒžใƒซใƒใƒžใƒผใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใŒใ€้ซ˜ๅˆ†ๅญ้‡ใฎใƒžใƒซใƒใƒžใƒผใปใฉๆญข่ก€่ƒฝใŒ้ซ˜ใ„ใ€‚ใพใŸVWFใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌโ…งๅ› ๅญ๏ผˆFVIII๏ผ‰ใจ็ตๅˆใ—่ก€ๆผฟไธญใฎFVIIIใ‚’ๅฎ‰ๅฎšๅŒ–ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚‚ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็—‡ใงใฏไบŒๆฌก็š„ใซFVIIIใ‚‚ไฝŽไธ‹ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฎ็—…ๅ› ใƒป็—…ๆ…‹ใฏๅคšๆง˜ใงใ€้‡็š„ๆธ›ๅฐ‘็—‡ใฎ1ๅž‹ใ€่ณช็š„็•ฐๅธธ็—‡ใฎ2ๅž‹ใ€ๅฎŒๅ…จๆฌ ๆ็—‡ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€2ๅž‹ใซใฏๆ›ดใซ2Aใ€2Bใ€2Mใ€2Nใฎ4ไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็š„็—…ๆ…‹ใฏVWFใฎ็•ฐๅธธใซๅŸบใฅใ่ก€ๅฐๆฟ็ฒ˜็€ใŠใ‚ˆใณๅ‡้›†้šœๅฎณใจFVIIIไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200316NANDO:2200682
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_046_01.pdf
rdfs:label - "Growth hormone deficiency" + "Von Willebrand disease" @en
rdfs:label - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ใตใ‰ใ‚“ใ†ใƒใ‚‹ใถใ‚‰ใ‚“ใฉใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_04_005/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02092
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_046/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100113http://nanbyodata.jp/ontology/NANDO_2100196
+ skos:altLabel + "VWD" + @en
skos:altLabel - "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "von Willebrand็—…" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024574
skos:prefLabel - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" @ja
- - + - - + + + + + + - + - + + "37ใ‹ใ‚‰47ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใคใˆใใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ„ใ˜ใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200317 +
http://nanbyodata.jp/ontology/NANDO_2200683 (rdf:type owl:Class @@ -112607,62 +169086,69 @@

hasNotificationNumber45hasNotificationNumber40
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200317NANDO:2200683
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdf
rdfs:label - "congenital growth hormone deficiency" - @en
rdfs:label - "ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" @ja
+ rdfs:label + "Other inherited bleeding disorder" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_04_005/https://www.shouman.jp/disease/details/09_21_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200316
- skos:altLabel - "ๅ™จ่ณช็š„GHD" - @jahttp://nanbyodata.jp/ontology/NANDO_2100196
skos:prefLabel - "ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + "prekallikrein deficiency" + @en + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200318 +
http://nanbyodata.jp/ontology/NANDO_2200684 (rdf:type owl:Class @@ -112670,69 +169156,84 @@

hasNotificationNumber46
- dcterms:description - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ€้ ญ้ƒจMRIๆคœๆŸปใง๏ผŒไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹๏ผ‰ใซๅซใพใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200318NANDO:2200684
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdf
rdfs:label - "Growth hormone deficiency" + "congenital prekallikrein deficiency" @en
rdfs:label - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚Œใ‹ใ‚Šใใ‚Œใ„ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_04_006/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7139
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100113http://nanbyodata.jp/ontology/NANDO_2200683
skos:altLabel - "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012901
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044744
skos:prefLabel - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "congenital high molecular weight kininogen deficiency" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200319 +
http://nanbyodata.jp/ontology/NANDO_2200685 (rdf:type owl:Class @@ -112740,62 +169241,79 @@

hasNotificationNumber46hasNotificationNumber40
dcterms:identifier2200319NANDO:2200685
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_04_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdf
rdfs:label - "Idiopathic growth hormone deficiency" + "High molecular weight kininogen deficiency" @en
rdfs:label - "็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใถใ‚“ใ—ใใซใฎใ’ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_04_006/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2223
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200318http://nanbyodata.jp/ontology/NANDO_2200683
skos:altLabel - "็‰น็™บๆ€งGHD" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009234
skos:prefLabel - "็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡" + "ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200320 +
http://nanbyodata.jp/ontology/NANDO_2200686 (rdf:type owl:Class @@ -112803,69 +169321,67 @@

hasNotificationNumber43
- dcterms:description - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณ๏ผˆGH๏ผ‰ใฎไฝœ็”จใ‚’ไปฒไป‹ใ™ใ‚‹ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1(IGF1)๏ผˆๅพ“ๆฅใฏใ‚ฝใƒžใƒˆใƒกใ‚ธใƒณC๏ผ‰ใฎๅ—ๅฎนไฝ“ใ‚ใ‚‹ใ„ใฏใใ‚Œไปฅ้™ใฎ้šœๅฎณใซใ‚ˆใ‚Šใ€่ƒŽๅ†…็™บ่‚ฒ้…ๅปถใจไฝŽ่บซ้•ทใ‚’ใใŸใ™็–พๆ‚ฃใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200320NANDO:2200686
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_05_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdf
rdfs:label - "IGF1 insensitivity" + "Combined deficiency of coagulation factors V and VIII" @en
rdfs:label - "ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„5ใŠใ‚ˆใณ8ใ„ใ‚“ใ—ใŒใฃใบใ„ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็ฌฌVใŠใ‚ˆใณVIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_05_007/https://www.shouman.jp/disease/details/09_21_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100114http://nanbyodata.jp/ontology/NANDO_2200683
- skos:altLabel - "IGF๏ผ1ไธๅฟœ็—‡" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018175
skos:prefLabel - "ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡" + "ๅ…ˆๅคฉๆ€ง็ฌฌVใŠใ‚ˆใณVIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200321 +
http://nanbyodata.jp/ontology/NANDO_2200687 (rdf:type owl:Class @@ -112873,77 +169389,72 @@

hasNotificationNumber44
- dcterms:description - "็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™ใ€ใ‚ใ‚‹ใ„ใฏGHๆŠตๆŠ—ๆ€งใ‚’็คบใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚GHๅ—ๅฎนไฝ“ใŠใ‚ˆใณใใ‚Œไปฅ้™ใฎ็ดฐ่ƒžๅ†…ๆƒ…ๅ ฑไผ้”ๅˆ†ๅญใฎ็•ฐๅธธใŠใ‚ˆใณๅ…ˆๅคฉๆ€งIGF-I็”ฃ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใณ๏ผŒ GHใŠใ‚ˆใณGHๅ—ๅฎนไฝ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผŒๆ „้คŠไธ่‰ฏ๏ผŒ่‚็–พๆ‚ฃ๏ผŒ็ณ–ๅฐฟ็—…ใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซGHๆŠตๆŠ—ๆ€งใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆไบŒๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚1966ๅนดใซLaronใซใ‚ˆใฃใฆ๏ผŒไฝŽ่บซ้•ท๏ผŒ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚1989ๅนดใ€ๆœฌ็–พๆ‚ฃใฏGHๅ—ๅฎนไฝ“้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใใ‚‰ใ‹ใจใชใฃใŸใ€‚GHใ‚ทใ‚ฐใƒŠใƒซใŒๅๅˆ†ใซไผ้”ใ•ใ‚Œใชใ„ใŸใ‚ใ€GHๅˆ†ๆณŒไธๅ…จใจๅŒๆง˜ใฎ็‰นๅพดใ‚ใ‚‹็—‡็Šถ๏ผŒๆ‰€่ฆ‹ใ‚’็คบใ™ใ€‚Laronๅž‹ไฝŽ่บซ้•ท็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200321NANDO:2200687
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_05_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdf
rdfs:label - "Growth hormone insensitivity" + "Alpha-2-plasmin inhibitor deficiency" @en
rdfs:label - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚‹ใตใ2ใทใ‚‰ใ™ใฟใ‚“ใ„ใ‚“ใฒใณใŸใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2861http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2867
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_05_008/https://www.shouman.jp/disease/details/09_21_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100114
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009877http://nanbyodata.jp/ontology/NANDO_2200683
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015892http://purl.obolibrary.org/obo/MONDO_0009883
skos:prefLabel - "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200322 +
http://nanbyodata.jp/ontology/NANDO_2200688 (rdf:type owl:Class @@ -112951,82 +169462,79 @@

hasNotificationNumber33
- dcterms:description - "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณใฏใ€ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒ็ดฐ่ƒžใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ€่ฆ–ๅบŠไธ‹้ƒจใ‹ใ‚‰ใฎๆŠ‘ๅˆถ็š„ใช่ชฟ็ฏ€ใ‚’ใ†ใ‘ใฆใ„ใ‚‹ใ€‚้‡ๅบฆใฎ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ใฏใ€ใใฎๅคšใใŒใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซ๏ผˆใƒ—ใƒญใƒฉใ‚ฏใƒใƒŽใƒผใƒž๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200322NANDO:2200688
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_06_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdf
rdfs:label - "Hyperprolactinaemia" + "Congenital Plasminogen Activator Inhibitor-1 Deficiency" @en
rdfs:label - "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚‰ใ™ใฟใฎใ’ใ‚“ใ‚ใใกในใƒผใŸใ„ใ‚“ใฒใณใŸใƒผ1ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01388http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7447
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_06_009/https://www.shouman.jp/disease/details/09_21_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100115
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005804http://nanbyodata.jp/ontology/NANDO_2200683
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0023209 + skos:altLabel + "Plasminogen Activator Inhibitor-1 Deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024305http://purl.obolibrary.org/obo/MONDO_0013227
skos:prefLabel - "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡" + "ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + - + + "protein C deficiency" + @en - +
http://nanbyodata.jp/ontology/nando#2200323 +
http://nanbyodata.jp/ontology/NANDO_2200689 (rdf:type owl:Class @@ -113034,74 +169542,81 @@

hasNotificationNumber34hasNotificationNumber44
dcterms:description - "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆsyndrome of inappropriate secretion of ADH: SIADH๏ผ‰ใฏใ€ไฝŽๆตธ้€ๅœง่ก€็—‡ไธ‹ใงใ‚‚ADHใฎๅˆ†ๆณŒใŒๆŠ‘ๅˆถใ•ใ‚Œใšใ€ๆฐดๅˆฉๅฐฟไธๅ…จใ‚’็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฎใ†ใกใ€ไฝ“ๅ†…ใƒŠใƒˆใƒชใ‚ฆใƒ ้‡ใซๅค‰ๅ‹•ใฎ็„กใ„ใ€็จ€้‡ˆๆ€งใฎไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚" + "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚" @ja
dcterms:identifier2200323NANDO:2200689
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_07_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_22_048_01.pdf
rdfs:label - "Syndrome of inappropriate secretion of antidiuretic hormone" + "protein C deficiency" @en
rdfs:label - "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใ—ใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_07_010/https://www.shouman.jp/disease/details/09_22_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100116http://nanbyodata.jp/ontology/NANDO_2100197
skos:altLabel - "ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006802http://purl.obolibrary.org/obo/MONDO_0019145
skos:prefLabel - "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใˆใ™ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200324 +
http://nanbyodata.jp/ontology/NANDO_2200690 (rdf:type owl:Class @@ -113109,77 +169624,81 @@

hasNotificationNumber75hasNotificationNumber45
dcterms:description - "ไธ‹ๅž‚ไฝ“ๅพŒ่‘‰ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹arginine vasopressin (AVP) ใฎๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚Šใ€่…Ž้›†ๅˆ็ฎกใงใฎๆฐดๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ€ไฝŽๆตธ้€ๅœงๅฐฟใŒๅคš้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" + "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚" @ja
dcterms:identifier2200324NANDO:2200690
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_08_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_23_049_01.pdf
rdfs:label - "Central diabetes insipidus" + "protein S deficiency" @en
rdfs:label - "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=431 + rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_08_011/https://www.shouman.jp/disease/details/09_23_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100117http://nanbyodata.jp/ontology/NANDO_2100198
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007450 + skos:altLabel + "protein S deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015790http://purl.obolibrary.org/obo/MONDO_0002304
skos:prefLabel - "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡" + "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200325 +
http://nanbyodata.jp/ontology/NANDO_2200691 (rdf:type owl:Class @@ -113187,55 +169706,76 @@

hasNotificationNumber73hasNotificationNumber28
dcterms:description - "้€šๅธธใ€่ก€ๆธ…ใพใŸใฏ่ก€ๆผฟไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏใฉใฎๅนดไปฃใซใŠใ„ใฆใ‚‚135ใ€œ145mEq/lใซใ‚ณใƒณใƒˆใƒญใƒผใƒซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏ่ก€ๆถฒใฎๆตธ้€ๅœงใ‚’ไธ€ๅฎšใซไฟใคใฎใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใŸใ‚ใ€่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚Œใฐๅฃๆธ‡ไธญๆžขใŒๅƒใใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซ้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‹ใ€‚่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ€็‰นใซๆญฃไธญๅฅ‡ๅฝขใ‚„่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚Šๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒ่ตทใ“ใ‚‹ใจใ€้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‰ใชใ„ใŸใ‚ใซ้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅบƒ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจๅ‘ผใถใ€‚ใ•ใ‚‰ใซ็‹ญ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฏใ€ๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒใ‚ใ‚‹ใ“ใจใซๅŠ ใˆใ€ๆ˜Žใ‚‰ใ‹ใชๆฐดๅˆ†ๆ‘‚ๅ–ไธๅ…จใŒใชใใฆใ‚‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๅ€คใฎๅค‰ๅ‹•ใ‚’่ฆ‹ใ‚‹ใ‚‚ใฎใงใ€ๅŒไธ€ใฎ็—‡ไพ‹ใงไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚‚ไฝต็™บใ—ใ†ใ‚‹ใ€‚็—…ๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ๅˆฉๅฐฟใƒšใƒ—ใƒใƒ‰ใ‚„ๆœช็Ÿฅใฎๅ› ๅญใฎไฝœ็”จใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚" @ja
dcterms:identifier2200325NANDO:2200691
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_08_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_24_050_01.pdf
rdfs:label - "ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡" + "antithrombin deficiency" + @en
+ rdfs:label + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใกใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_08_012/https://www.shouman.jp/disease/details/09_24_050/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100117http://nanbyodata.jp/ontology/NANDO_2100199
skos:altLabel - "ๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡" + "antithrombin deficiency" + @en
+ skos:prefLabel + "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200326 +
http://nanbyodata.jp/ontology/NANDO_2200692 (rdf:type owl:Class @@ -113243,67 +169783,79 @@

hasNotificationNumber74hasNotificationNumber19
dcterms:description - "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚" + "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200326NANDO:2200692
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_08_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_25_051_01.pdf
rdfs:label - "Nephrogenic diabetes insipidus" + "myelofibrosis" @en
rdfs:label - "่…Žๆ€งๅฐฟๅดฉ็—‡" + "ใ“ใคใšใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจ้ซ„็ทš็ถญ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_08_013/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01605
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_25_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100117http://nanbyodata.jp/ontology/NANDO_2100200
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016383http://purl.obolibrary.org/obo/MONDO_0044903
skos:prefLabel - "่…Žๆ€งๅฐฟๅดฉ็—‡" + "้ชจ้ซ„็ทš็ถญ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200327 +
http://nanbyodata.jp/ontology/NANDO_2200693 (rdf:type owl:Class @@ -113311,62 +169863,86 @@

hasNotificationNumber67hasNotificationNumber20
dcterms:description - "ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃ็ฝนๆ‚ฃๆ™‚ใ‚ใ‚‹ใ„ใฏ็ฝนๆ‚ฃๅพŒใซใ€ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’ๆฅใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎไธปใŸใ‚‹็—…ๅ› ใจใ—ใฆใ€ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆSIADH๏ผ‰ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚SIADHใงใฏใ€ADHใŒไธ้ฉๅˆ‡ใซๅคšใๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๆฐดๅˆ†่ฒฏ็•™ใ‚’ๆฅใ™ใ€‚ไธ€ๆ–นใ€ๅฐฟไธญใฎๅกฉๆŽ’ๆณ„ใŒไบข้€ฒใ—ใ€็ดฐ่ƒžๅค–ๆถฒใŒๆธ›ๅฐ‘ใ—ใฆไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจ่„ฑๆฐด็—‡ใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใ‚’ใ€ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค๏ผˆCSW๏ผ‰ใจๅ‘ผใณใ€SIADHใจๅŒบๅˆฅใ—ใฆใ„ใ‚‹ใ€‚ใ€€SIADHใงใ‚‚ใ€่ฒฏ็•™ใ—ใŸๆฐดๅˆ†ใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ—ใฆใ€ๅฐฟไธญNaๆŽ’ๆณ„ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚SIADHใฎ่จบๆ–ญใซใ€ๅฐฟไธญNaใŒ20 mEq/lใŒๅซใพใ‚Œใฆใ„ใ‚‹ใฎใฏใ“ใฎใŸใ‚ใงใ‚ใ‚‹ใ€‚CSWใฏSIADHใซใŠใ‘ใ‚‹NaๆŽ’ๆณ„ใŒใ•ใ‚‰ใซไบข้€ฒใ—ใ€ๅคง้‡ใฎNaใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ™ใ‚‹ใŸใ‚ใซไฝŽNaใŒๆ‚ชๅŒ–ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€SIADHใฎๅปถ้•ทไธŠใซใ‚ใ‚‹็—…ๆ…‹ใงใ‚ใ‚Š็‹ฌ็ซ‹ใ—ใŸ็—…ๆ…‹ใงใฏ็„กใ„ใ€ใจใ„ใ†่€ƒใˆๆ–นใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ไฝ“ๆถฒ้‡ใซใคใ„ใฆใฏๆฐดๅˆ†้Žๅ‰ฐใงใ‚ใ‚‹ใ‹ใ€่„ฑๆฐดใงใ‚ใ‚‹ใ‹ใจใ„ใ†้€†ใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€ๆฒป็™‚ๆณ•ใ‚‚็•ฐใชใ‚‹ใŸใ‚ใ€ไบŒใคใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใŒ่‡จๅบŠไธŠใฏใ‚ใ‹ใ‚Šใ‚„ใ™ใ„ใ€‚" + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆๅ†ไธ่ฒง๏ผ‰ใฏใ€้ชจ้ซ„ใงใฎ3่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœใ€ๆœซๆขข่ก€ใงใฎ็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใŠใ‚ˆใณ่ก€ๅฐๆฟๆ•ฐใฎใ™ในใฆใŒๆธ›ๅฐ‘ใ™ใ‚‹๏ผˆๆฑŽ่ก€็ƒๆธ›ๅฐ‘๏ผ‰1ใคใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่จบๆ–ญใซใ‚ใŸใฃใฆใฏใ€้ชจ้ซ„ๆจ™ๆœฌใงๅ„่ก€็ƒๆˆๅˆ†ใซๅฝขๆ…‹็•ฐๅธธใ‚’่ชใ‚ใชใ„ใ“ใจใ€็™ฝ่ก€็—…็ดฐ่ƒžใชใฉใฎ่…ซ็˜ๆ€ง่ก€็ƒใฎๅ‡บ็พใ‚’่ชใ‚ใชใ„ใ“ใจใ€็ทš็ถญๆˆๅˆ†ใฎๅข—ๅŠ ใ‚’่ชใ‚ใชใ„ใ“ใจใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใชใ„ใ“ใจใ€่‚‰่Šฝ่…ซใ‚„ๅ›บๅฝข่…ซ็˜ใฎ้ชจ้ซ„่ปข็งปใชใฉใฎๅ ๆ‹ ๆ€ง็—…ๅค‰ใ‚’่ชใ‚ใชใ„ใ“ใจใชใฉใŒๅฟ…่ฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฎŸ้š›ใซๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใฏๅคšๆ•ฐๅญ˜ๅœจใ™ใ‚‹ใฎใงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹ไป–ใฎ็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ†ไธ่ฒงใจ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚" @ja
dcterms:identifier2200327NANDO:2200693
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_09_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_26_052_01.pdf
rdfs:label - "Cerebral salt wasting syndrome" + "Aplastic anemia" @en
rdfs:label - "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" + "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_09_014/http://nanbyodata.jp/ontology/NANDO_1200295
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_26_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100118http://nanbyodata.jp/ontology/NANDO_2100201
+ skos:altLabel + "Aplastic anaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015909
skos:prefLabel - "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค" + "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200328 +
http://nanbyodata.jp/ontology/NANDO_2200694 (rdf:type owl:Class @@ -113374,81 +169950,91 @@

hasNotificationNumber24hasNotificationNumber30
dcterms:description - "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใƒใ‚ปใƒ‰ใ‚ฆใฏใ“ใฎ็—…ๆฐ—ใ‚’็ ”็ฉถๅ ฑๅ‘Šใ—ใŸใƒ‰ใ‚คใƒ„ไบบๅŒปๅธซใฎๅใงใ€่‹ฑ่ชžๅœใงใฏใ‚‚ใ†ไธ€ไบบใฎ็ ”็ฉถ่€…ใงใ‚ใ‚‹ใ‚คใ‚ฎใƒชใ‚นไบบๅŒปๅธซใฎๅใ‹ใ‚‰Gravesโ€™diseaseใจ็งฐใ™ใ‚‹ใ€‚" + "X-SCIDใฏX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚1966ๅนดใซRosen ใ‚‰ใŒๅ ฑๅ‘Šใ—ใŸ3ๅฎถ็ณปใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šฮณ้Ž–ใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€Tใƒชใƒณใƒ‘็ƒใ€NK็ดฐ่ƒžๆ•ฐใฏๆฌ ๆใพใŸใฏ่‘—ๆธ›ใ—(<300/ul)ใ€B็ดฐ่ƒžๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200328NANDO:2200694
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_10_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_001_01.pdf
rdfs:label - "Basedow disease" + "X-linked severe combined immunodeficiency" @en
rdfs:label - "ใƒใ‚ปใƒ‰ใ‚ฆ็—…" + "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_10_015/http://nanbyodata.jp/ontology/NANDO_1200321
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100119 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3306
- skos:altLabel - "Basedow็—… " - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_001/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100203
skos:altLabel - "Graves' disease" + "X-SCID" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005364http://purl.obolibrary.org/obo/MONDO_0010315
skos:prefLabel - "ใƒใ‚ปใƒ‰ใ‚ฆ็—…" + "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200329 +
http://nanbyodata.jp/ontology/NANDO_2200695 (rdf:type owl:Class @@ -113456,72 +170042,84 @@

hasNotificationNumber23hasNotificationNumber32
dcterms:description - "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใใ‚Œไปฅๅค–ใฎๅŽŸๅ› ใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚" + "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ใฏๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ใใฎไธ€้ƒจใฎๆ‚ฃ่€…ใฏAK2ๆฌ ๆ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚1959ๅนดใซDe Vaalใ‚‰ใฎใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚ŒใŸๅŒ่ƒŽๅ…ใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใƒฌใƒ™ใƒซใงใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ไธ€ๆ–นใ€่ตค่Šฝ็ƒใ‚„ๅทจๆ ธ็ƒใฎๅˆ†ๅŒ–ใฏใปใผๆญฃๅธธใซไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚่ก€ๆถฒๅนน็ดฐ่ƒžใใฎใ‚‚ใฎใฎ็•ฐๅธธใงใฏใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200329NANDO:2200695
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_10_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_002_01.pdf
rdfs:label - "Hyperthyroidism" + "Reticular dysgenesis" @en
rdfs:label - "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "ใ•ใ„ใ‚‚ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01645http://nanbyodata.jp/ontology/NANDO_1200322
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_10_016/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2960
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100119http://nanbyodata.jp/ontology/NANDO_2100203
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004425http://purl.obolibrary.org/obo/MONDO_0009973
skos:prefLabel - "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200330 +
http://nanbyodata.jp/ontology/NANDO_2200696 (rdf:type owl:Class @@ -113529,62 +170127,98 @@

hasNotificationNumber28hasNotificationNumber29
dcterms:description - "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ‹ๆญฃๆ‰€ๆ€งใงใฏใ‚ใ‚‹ใŒๅฝขๆˆไธๅ…จ๏ผˆ็‰‡่‘‰ๆ€งใ‚‚ๅซใ‚€๏ผ‰ใฎใŸใ‚ใ€ไฝ“ๅ†…ใฎ็”ฒ็Šถ่…บ็ดฐ่ƒžใŒๅๅˆ†้‡ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใ‚’็”ฃ็”Ÿใงใใชใ„ใ“ใจใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ€ๆฌ ๆๆ€งใ‚ใ‚‹ใ„ใฏๅฝขๆˆไธๅ…จใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚" + "ADAๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ ธ้…ธไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1972ๅนดใซGiblettใ‚‰ใŒ่ตค่ก€็ƒใฎADAๆดปๆ€งใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ‚’่กŒใ„ๅถ็„ถใซADAๆฌ ๆ็—‡ใจๅ…็–ซไธๅ…จ็—‡ใฎ้–ข้€ฃใ‚’็™บ่ฆ‹ใ—ใŸใ€‚ADA้…ต็ด ๆฌ ๆใ‚ˆใ‚‹ๅ…จ่บซใฎไปฃ่ฌ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆใฎๅฝฑ้Ÿฟใฏ็‰นใซๆœช็†Ÿใชใƒชใƒณใƒ‘็ƒใซๅฏพใ—ใ€้€ฒ่กŒๆ€งใซ็ดฐ่ƒžๆฏ’ใจใ—ใฆไฝœ็”จใ™ใ‚‹ใŸใ‚ใ€ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200330NANDO:2200696
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_003_01.pdf
rdfs:label - "Ectoic thyroid" + "Adenosine deaminase deficiency" @en
rdfs:label - "็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ" + "ใ‚ใงใฎใ—ใ‚“ใงใ‚ใฟใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_017/http://nanbyodata.jp/ontology/NANDO_1200323
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=35
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100120http://nanbyodata.jp/ontology/NANDO_2100203
+ skos:altLabel + "ADA deficiency" + @en
+ skos:altLabel + "ADAๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007064
skos:prefLabel - "็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ" + "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - - - + "Omenn็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200331 +
http://nanbyodata.jp/ontology/NANDO_2200697 (rdf:type owl:Class @@ -113592,84 +170226,91 @@

hasNotificationNumber30hasNotificationNumber31
dcterms:description - "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚็„ก็”ฒ็Šถ่…บ็—‡ใฏใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใฎไธ€ๅˆ†้กžใงใ‚ใ‚Šใ€่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹็”ฒ็Šถ่…บๅŽŸๅŸบใฎ็™บ็”Ÿ้Ž็จ‹ใซใชใ‚“ใ‚‰ใ‹ใฎ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใซใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใŸใ‚‚ใฎใ€‚็„กๅฝขๆˆใ€็”ฒ็Šถ่…บๆฌ ๆใชใฉใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚" + "1965ๅนดใซOmennใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŒๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็ถฒๅ†…็ณปใŠใ‚ˆใณ็šฎ่†šใฎ็ดฐ่ƒžๆตธๆฝคใจๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็พๅœจใฏ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ„ใใคใ‹ใฎ็–พๆ‚ฃ่ฒฌไปป้บไผๅญ็”ฃ็‰ฉใฎๆดปๆ€งใŒๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹๏ผˆhypomorphic๏ผ‰ๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹๏ผŒ" @ja
dcterms:identifier2200331NANDO:2200697
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_004_01.pdf
rdfs:label - "Thyroid agenesis" + "Omenn syndrome" @en
rdfs:label - "็„ก็”ฒ็Šถ่…บ็—‡" + "ใŠใƒผใ‚ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2023http://nanbyodata.jp/ontology/NANDO_1200324
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_018/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4157
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100120http://nanbyodata.jp/ontology/NANDO_2100203
skos:altLabel - "athyreosis" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019855
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024264http://purl.obolibrary.org/obo/MONDO_0011338
skos:prefLabel - "็„ก็”ฒ็Šถ่…บ็—‡" + "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - - - - - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200332 +
http://nanbyodata.jp/ontology/NANDO_2200698 (rdf:type owl:Class @@ -113677,84 +170318,84 @@

hasNotificationNumber29hasNotificationNumber35
dcterms:description - "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ไธญๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผณ๏ผจ๏ผ‰ใซใ‚ˆใ‚‹ๅˆบๆฟ€ใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใ€็”ฒ็Šถ่…บ่‡ชไฝ“ใฏๆญฃๅธธใงใ‚ใฃใฆใ‚‚ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่งฃๅ‰–ๅญฆ็š„ใ€ๆฉŸ่ƒฝ็š„้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅพ“ๆฅใ€ไธ‹ๅž‚ไฝ“ใซ้šœๅฎณใŒใ‚ใฃใฆ๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใซ็”Ÿใ˜ใ‚‹ไธ‹ๅž‚ไฝ“ๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚‹็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ้Š้›ขใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผฒ๏ผจ๏ผ‰ไฝŽไธ‹ใŒ้–“ๆŽฅ็š„ใซ๏ผด๏ผณ๏ผจๅˆ†ๆณŒไฝŽไธ‹ใ‚’ๆฅใ™่ฆ–ๅบŠไธ‹้ƒจๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใฆใ„ใŸใ€‚ใ—ใ‹ใ—ใ€ๅ‰่€…ใงใฏ๏ผด๏ผฒ๏ผจ่ฉฆ้จ“ใซใ‚ˆใ‚‹๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใ€ๅพŒ่€…ใงใฏ้Žๅคงๅๅฟœใ‚’็คบใ™ใจใ„ใ†ใ€ใ“ใ‚Œใพใงใฎ่€ƒใˆๆ–นใงใฏ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ไธก่€…ใฎ๏ผด๏ผณ๏ผจๅˆ†ๆณŒๅๅฟœใซ้‡ใชใ‚ŠใŒใ‚ใ‚‹ใ“ใจใ€ใพใŸ๏ผด๏ผณ๏ผจใฎ้‡็š„ไฝŽไธ‹ใ ใ‘ใงใชใ็”Ÿ็‰ฉๅญฆ็š„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ‚‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใชใฉใ‹ใ‚‰ใ€ไธก่€…ใ‚’ๅŒบๅˆ†ใ›ใšใซไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆTSH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹็—‡ใฏไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒ็พฉใงใ‚ใ‚‹ใ€‚" + "PNPๆฌ ๆ็—‡ใฏ้žๅธธใซ็จ€ใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ๅŒๆง˜ใ€ๆ ธ้…ธไปฃ่ฌ็ตŒ่ทฏ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1975ๅนดใซGiblettใ‚‰ใฏADAๆฌ ๆ็—‡ใซ็ถšใใ€PNPๆฌ ๆ็—‡ใ‚‚ๅ…็–ซไธๅ…จใ‚’ๆƒน่ตทใ™ใ‚‹ใ“ใจใ‚’่ฆ‹ใ„ใ ใ—ใŸใ€‚่“„็ฉใ•ใ‚Œใ‚‹ไปฃ่ฌๆฏ’ๆ€ง็”ฃ็‰ฉใฎใŸใ‚ใ€ๅ…็–ซ็ณปใชใฉใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ใ‚ˆใ‚Šใ‚‚ไธ€่ˆฌใซๅ…็–ซไธๅ…จใฎ็จ‹ๅบฆใฏ่ปฝๅบฆใงๅคšๆง˜ๆ€งใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200332NANDO:2200698
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_005_01.pdf
rdfs:label - "Thyroid-stimulating hormone deficiency" + "Purine nucleoside phosphorylase deficiency" @en
rdfs:label - "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใทใ‚Šใ‚“ใฌใใ‚ŒใŠใ—ใฉใปใ™ใปใ‚Šใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3122http://nanbyodata.jp/ontology/NANDO_1200325
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_019/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100120http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7372
- skos:altLabel - "TSHๅˆ†ๆณŒไฝŽไธ‹็—‡" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_005/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010139 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100203
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016410http://purl.obolibrary.org/obo/MONDO_0013171
skos:prefLabel - "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡" + "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200333 +
http://nanbyodata.jp/ontology/NANDO_2200699 (rdf:type owl:Class @@ -113762,60 +170403,84 @@

hasNotificationNumber29hasNotificationNumber34
+ dcterms:description + "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒCD๏ผ˜ใฎๆฌ ๅคฑใซใ‚ˆใ‚Š็ดฐ่ƒž้šœๅฎณๆ€งT็ดฐ่ƒžใฎๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ™๏ผŽ2001ๅนดใซใ‚นใƒšใ‚คใƒณใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒ CD8A้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸ๏ผŽ" + @ja
dcterms:identifier2200333NANDO:2200699
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_006_01.pdf
rdfs:label - "congenital hypothyroidism" + "CD8 deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "CD8ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผใงใƒใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_019/http://nanbyodata.jp/ontology/NANDO_1200326
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6453
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200332http://nanbyodata.jp/ontology/NANDO_2100203
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018612http://purl.obolibrary.org/obo/MONDO_0012161
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "CD8ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใ–ใฃใท70ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200334 +
http://nanbyodata.jp/ontology/NANDO_2200700 (rdf:type owl:Class @@ -113823,84 +170488,74 @@

hasNotificationNumber31hasNotificationNumber33
dcterms:description - "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ใ€Œ16ใ‹ใ‚‰18ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ใจใ—ใฆใฏใ€ๆฐธ็ถšๆ€งๅŽŸ็™บๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆpermanent primary congenital hypothyroidism๏ผšไปฅไธ‹ใ€ๅŽŸ็™บๆ€ง๏ผฃ๏ผจ๏ผ‰ใฎไธญใงใ€ไธ‹่จ˜ใฎ็—…ๅ› ใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽ็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธใฎใ†ใกไฝŽๅฝขๆˆใ€็‰‡่‘‰ๆฌ ๆ๏ผ’๏ผŽ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณ๏ผ“๏ผŽๆฉŸ่ƒฝๅ–ชๅคฑๅž‹TSHๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใฎๆฌ ๆ็ญ‰ใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ใ€€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ้‡่ฆใชๆง‹ๆˆ่ฆ็ด ใงใ‚ใ‚‹ใƒจใƒผใƒ‰๏ผˆใƒจใ‚ฆ็ด ๏ผ‰ใŒใ€่ก€ๆถฒไธญใ‹ใ‚‰็”ฒ็Šถ่…บๆฟพ่ƒž็ดฐ่ƒžไธญใซๅ–ใ‚Š่พผใพใ‚Œใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใจใชใฃใฆ่ก€ๆถฒไธญใซๆ”พๅ‡บใ•ใ‚Œใ‚‹ใพใงใฎไธ€้€ฃใฎ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆใƒปๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅคง้ƒจๅˆ†ใฏ้–ขไฟ‚ใ™ใ‚‹้…ต็ด ใชใฉใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ€ไธปใซๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" + "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒT็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใŠใ‚ˆใณCD8้™ฝๆ€งT็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š๏ผŒ้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ1989ๅนดใซใ‚ซใƒŠใƒ€ใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒZAP70้บไผๅญใฎๅค‰็•ฐใŒ็ขบ่ชใ•ใ‚ŒใŸ๏ผŽ" @ja
dcterms:identifier2200334NANDO:2200700
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_007_01.pdf
rdfs:label - "17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ZAP-70 deficiency" + @en
+ rdfs:label + "ZAP-70ๆฌ ๆ็—‡" @ja
rdfs:label - "Congenital hypothyroidism" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1079http://nanbyodata.jp/ontology/NANDO_1200327
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_020/https://www.shouman.jp/disease/details/10_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100120
- skos:altLabel - "CH" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008090
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018612http://nanbyodata.jp/ontology/NANDO_2100203
skos:prefLabel - "17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ZAP-70ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200335 +
http://nanbyodata.jp/ontology/NANDO_2200701 (rdf:type owl:Class @@ -113908,77 +170563,91 @@

hasNotificationNumber26hasNotificationNumber36
dcterms:description - "ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใฏใ€่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž(autoimmune thyroiditis)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚1912 ๅนดใซๆฉ‹ๆœฌ็ญ–ๅšๅฃซใŒ 4 ๅใฎไธญๅนดๅฅณๆ€งใฎใณใพใ‚“ๆ€ง็”ฒ็Šถ่…บ่…ซใฎ็—…็†ๆ‰€่ฆ‹ใ‚’ใƒชใƒณใƒ‘่…ซๆ€ง็”ฒ็Šถ่…บ่…ซ (struma lymphomatosa) ใจใ—ใฆ็™บ่กจใ—ใŸใฎใŒๆœ€ๅˆใงใ‚ใ‚Šใ€ใใฎ็—…็†ๅญฆ็š„็‰นๅพดใฏใ€็”ฒ็Šถ่…บๅฎŸ่ณชใธใฎใƒชใƒณใƒ‘็ƒๆตธๆฝคใจใƒชใƒณใƒ‘ๆฟพ่ƒžใฎๅฝขๆˆใ€ๆฟพ่ƒžไธŠ็šฎใฎ่Ž็ธฎใจๅฅฝ้…ธๆ€งๅค‰ๆ€งใ€้–“่ณชใฎ็ทš็ถญๅŒ–ใงใ‚ใฃใŸใ€‚ใใฎๅพŒใ€ๆ‚ฃ่€…่ก€ไธญใซๆŠ—็”ฒ็Šถ่…บ่‡ชๅทฑๆŠ—ไฝ“ใŒ่จผๆ˜Žใ•ใ‚Œใ€ๆœฌ็–พๆ‚ฃใฏ่‡ชๅทฑๅ…็–ซๅๅฟœใซใ‚ˆใ‚‹็”ฒ็Šถ่…บใฎๆ…ขๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใจๆฉ‹ๆœฌ็—…ใฏๅŒ็พฉ่ชžใจใ—ใฆไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅ›ฝ้š›็–พ็—…ๅˆ†้กž ICD10 ใงใฏๆฉ‹ๆœฌ็”ฒ็Šถ่…บ็‚Ž (Hashimotoโ€™s thyroiditis) ใจ่กจ่จ˜ใ•ใ‚Œใ€ใ“ใ‚ŒใŒๅญฆ่ก“็”จ่ชžใจใ—ใฆๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "MHCใ‚ฏใƒฉใ‚นI (HLA class I)ใฏๅ…จใฆใฎๆœ‰ๆ ธ็ดฐ่ƒžใฎ่กจ้ขใซ็™บ็พใ—ใ€ใ‚ฆใ‚ฃใƒซใ‚นใชใฉใฎๆŠ—ๅŽŸใƒšใƒ—ใƒใƒ‰ใ‚’CD8้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅƒใใ‚’ใ™ใ‚‹ใ€‚MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ใฏใ“ใฎๅˆ†ๅญใฎ็™บ็พใŒไฝŽไธ‹ใ™ใ‚‹็–พๆ‚ฃใงใ€Bare lymphocyte syndrome type Iใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200335NANDO:2200701
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_008_01.pdf
rdfs:label - "Hashimoto disease" + "MHC class I deficiency" @en
rdfs:label - "ๆฉ‹ๆœฌ็—…" + "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=688http://nanbyodata.jp/ontology/NANDO_1200328
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00081http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4275
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_021/https://www.shouman.jp/disease/details/10_01_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100120http://nanbyodata.jp/ontology/NANDO_2100203
+ skos:altLabel + "Major histocompatibility complex class I deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007699http://purl.obolibrary.org/obo/MONDO_0011476
skos:prefLabel - "ๆฉ‹ๆœฌ็—…" + "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200336 +
http://nanbyodata.jp/ontology/NANDO_2200702 (rdf:type owl:Class @@ -113986,74 +170655,91 @@

hasNotificationNumber25hasNotificationNumber37
dcterms:description - "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Žใฏ็”ฒ็Šถ่…บ่…ซๅคงใŒใชใ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใซ้™ฅใฃใŸ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Žใงใ‚ใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚’ๆŒ‡ใ™ใ€Œ็‰น็™บๆ€ง็ฒ˜ๆถฒๆฐด่…ซใ€ใจๅŒ็พฉ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็ฒ˜ๆถฒๆฐด่…ซใฏ็šฎไธ‹ใ‚„้–“่ณชใซใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใŒๆฒˆ็€ใ—ใฆๅœง็—•ใ‚’ๆฎ‹ใ•ใชใ„ๆตฎ่…ซ(nonpitting edema)ใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" + "MHCใ‚ฏใƒฉใ‚นIIใฏๅ˜็ƒใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใ€ๆจน็Šถ็ดฐ่ƒžใ€B็ดฐ่ƒžใชใฉใฎๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใ€่ƒธ่…บไธŠ็šฎ็ดฐ่ƒžใซๆ’ๅธธ็š„ใซ็™บ็พใ—ใ€ๅค–ๆฅๆŠ—ๅŽŸ็”ฑๆฅใƒšใƒ—ใƒใƒ‰ใ‚’CD4้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ใฏ1978ๅนดใซๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆŠ—ๅŽŸๆ็คบใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚็ฒๅพ—ๅ…็–ซใŒ่ช˜ๅฐŽใ•ใ‚Œใšใ€ๆถฒๆ€งใƒป็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ€‚Bare lymphocte syndrome type IIใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200336NANDO:2200702
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_009_01.pdf
rdfs:label - "Atrophic thyroiditis" + "MHC class II deficiency" @en
rdfs:label - "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž" + "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_022/http://nanbyodata.jp/ontology/NANDO_1200329
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1827
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100120http://nanbyodata.jp/ontology/NANDO_2100203
skos:altLabel - "primary myxedema" + "Major histocompatibility complex class II deficiency" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005624http://purl.obolibrary.org/obo/MONDO_0008855
skos:prefLabel - "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž" + "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200337 +
http://nanbyodata.jp/ontology/NANDO_2200703 (rdf:type owl:Class @@ -114061,62 +170747,76 @@

hasNotificationNumber27hasNotificationNumber38
dcterms:description - "ๅŽŸ็™บๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚" + "่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆCID๏ผ‰ใฏT็ดฐ่ƒž็ณปใ€B็ดฐ่ƒž็ณปใฎไธก่€…ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ๅˆไฝตใ—ใŸ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚B็ดฐ่ƒžใซ็•ฐๅธธใŒใชใใฆใ‚‚ใ€B็ดฐ่ƒžใฎๆˆ็†Ÿใซใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใŒๅฟ…่ฆใชใŸใ‚ใ€ใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใฎ้šœๅฎณใฏ็ตๆžœใจใ—ใฆCIDใ‚’็คบใ™ใ€‚2014ๅนดใฎIUISๅ…็–ซไธๅ…จ็—‡ๅˆ†้กžใงใฏใ€CIDใจใ—ใฆ41็–พๆ‚ฃใ€ใใฎไธญใซ14ใฎ้‡็—‡่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆSCID๏ผ‰ใŒๅซใพใ‚Œใ€ใพใŸ็‰นๅพด็š„ใช็—‡็Šถใ‚’ใจใ‚‚ใชใ†CIDใจใ—ใฆ37็–พๆ‚ฃใŒๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200337NANDO:2200703
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_01_010_01.pdf
rdfs:label - "21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "1ใ‹ใ‚‰9ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" @ja
rdfs:label - "Other acquired hypothyroidism" + "Other combined immunodeficiencies" @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_023/https://www.shouman.jp/disease/details/10_01_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100120http://nanbyodata.jp/ontology/NANDO_2100203
+ skos:altLabel + "Combined immunodeficiencies" + @en
skos:prefLabel - "21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200338 +
http://nanbyodata.jp/ontology/NANDO_2200704 (rdf:type owl:Class @@ -114124,55 +170824,96 @@

hasNotificationNumber27hasNotificationNumber46
+ dcterms:description + "Wiskott-Aldrich็—‡ๅ€™็พค๏ผˆไปฅไธ‹WASใจ็•ฅ๏ผ‰ใฏใ€ใ‚ตใ‚คใ‚บใฎๆธ›ๅฐ‘ใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆนฟ็–นใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’3ไธปๅพดใจใ—ใ€ไธปใซ็”ทๅ…ใซ็™บ็—‡ใ™ใ‚‹XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200338NANDO:2200704
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_011_01.pdf
rdfs:label - "radiation-induced hypothyroidism" + "Wiskott-Aldrich syndrome" @en
rdfs:label - "ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ†ใƒใ™ใ“ใฃใจใƒปใŠใ‚‹ใฉใ‚Šใฃใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_023/http://nanbyodata.jp/ontology/NANDO_1200330
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3330
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3331
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200337http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:altLabel + "Wiskott-Aldrich็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010518
skos:prefLabel - "ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200339 +
http://nanbyodata.jp/ontology/NANDO_2200705 (rdf:type owl:Class @@ -114180,55 +170921,89 @@

hasNotificationNumber27hasNotificationNumber55
+ dcterms:description + "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡(Ataxia Telangiectasiaใ€ไปฅไธ‹ATใจ็•ฅ)ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้‹ๅ‹•ๅคฑ่ชฟใจๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200339NANDO:2200705
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_012_01.pdf
rdfs:label - "drug-induced hypothyroidism" + "Ataxia telangiectasia" @en
rdfs:label - "่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_023/http://nanbyodata.jp/ontology/NANDO_1200331
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1812
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6606
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200337http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008840
skos:prefLabel - "่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200340 +
http://nanbyodata.jp/ontology/NANDO_2200706 (rdf:type owl:Class @@ -114236,60 +171011,96 @@

hasNotificationNumber27hasNotificationNumber52
+ dcterms:description + "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200340NANDO:2200706
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_11_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_013_01.pdf
rdfs:label - "central hypothyroidism" + "Nijmegen breakage syndrome" @en
rdfs:label - "ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใชใ„ใฟใƒผใธใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใตใ‚ใ‚“ใฆใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_11_023/http://nanbyodata.jp/ontology/NANDO_1200332
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2610
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2611
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200337http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:altLabel + "NijmegenๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016410http://purl.obolibrary.org/obo/MONDO_0009623
skos:prefLabel - "ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200341 +
http://nanbyodata.jp/ontology/NANDO_2200707 (rdf:type owl:Class @@ -114297,62 +171108,91 @@

hasNotificationNumber32hasNotificationNumber54
dcterms:description - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡(Syndrome of Resistance to Thyroid Hormone, ไปฅไธ‹RTH)ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967 ๅนดใ€Refetoff ใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ1ใ€‚ใ“ใฎใ“ใจใ‹ใ‚‰ใ€ๆœฌ็—‡ใฏโ€œใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคโ€ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๅฟœ็ญ”ๆ€งใŒๆธ›ๅผฑใ™ใ‚‹ๅŽŸๅ› ใจใ—ใฆใฏใ€โ‘  ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็ดฐ่ƒžๅ†…ใธใฎๅ–ใ‚Š่พผใฟใ€โ‘ก T4 ใ‹ใ‚‰ๆดปๆ€งๅž‹ใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹T3 ใธใฎ่ปขๆ›ใ€โ‘ข T3 ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“(TR)ใธใฎ็ตๅˆใจใ“ใ‚Œใซ็ถšใๆจ™็š„้บไผๅญใฎ่ปขๅ†™่ชฟ็ฏ€ใ€ใฎใ„ใšใ‚Œใ‹ใฎใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใŒ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ๏ผ“ ใคใฎใ‚นใƒ†ใƒƒใƒ—ใใ‚Œใžใ‚Œใฎ็•ฐๅธธ็—‡ใŒๆ—ขใซๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€ใ€Œ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๆ„Ÿๅ—ๆ€งไฝŽไธ‹็—‡ๅ€™็พคใ€ใจ็ท็งฐใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกRTHใฏใ€ใ‚นใƒ†ใƒƒใƒ—โ‘ข ใฎ้šœๅฎณใ€ใ™ใชใ‚ใกTRใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑ ๅž‹TR(TRฮฑ )ใจTRฮฒใฎ๏ผ’ ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85%ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ๆฎ‹ใ‚Š15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏใ„ใพใ ๆ˜Žใ‚‰ใ‹ใงใฏใชใ„ใŒใ€TRฮฒ้บ1ไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ๏ผˆ ้บไผๅญ็•ฐๅธธใ‚‚ๅซใ‚๏ผ‰ ใงTRฮฒๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚ŒใŸ็ตๆžœ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนด้ ƒใ‹ใ‚‰TRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ2ใ€‚" + "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200341NANDO:2200707
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_12_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_014_01.pdf
rdfs:label - "Resistance to thyroid hormone" + "Bloom syndrome" @en
rdfs:label - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ใถใ‚‹ใƒผใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_12_024/http://nanbyodata.jp/ontology/NANDO_1200333
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1849
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100121http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:altLabel + "Bloom็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008876
skos:prefLabel - "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200342 +
http://nanbyodata.jp/ontology/NANDO_2200708 (rdf:type owl:Class @@ -114360,62 +171200,79 @@

hasNotificationNumber54hasNotificationNumber45
dcterms:description - "็”ฒ็Šถ่…บๅ†…ใซ็ต็ฏ€ใฎๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ่…บ่…ซๆง˜ใซๅข—ๆฎ–ใ‚’็คบใ™้ƒจๅˆ†๏ผŒ้Žๅฝขๆˆใ‚’็คบใ™้ƒจๅˆ†๏ผŒใŠใ‚ˆใณใปใจใ‚“ใฉๆญฃๅธธใฎ้ƒจๅˆ†ใŒๆททๅœจใ™ใ‚‹๏ผŽ็—…็†ๆ‰€่ฆ‹ใจใ—ใฆใฏ๏ผŒ่‚‰็œผ็š„ใซใฏๆ•ฐๅ€‹ใฎ็ต็ฏ€ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผŽ็ต็ฏ€ใฏใ—ใฐใ—ใฐๅ‡บ่ก€๏ผŒๅฃŠๆญป๏ผŒๅšข่ƒžๅฝขๆˆ๏ผŒ็ตๅˆ็น”ๅข—็”Ÿ๏ผŒ็Ÿณ็ฐๆฒˆ็€ใชใฉใฎไบŒๆฌก็š„ๅค‰ๅŒ–ใ‚’ไผดใ†๏ผŽ" + "DNAใƒกใƒใƒซๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200342NANDO:2200708
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_13_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_015_01.pdf
rdfs:label - "Adenomatous goitre" + "ICF syndrome" @en
rdfs:label - "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" + "ICF็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ‚ใ„ใ—ใƒผใˆใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_13_025/http://nanbyodata.jp/ontology/NANDO_1200334
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100122http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000133
skos:prefLabel - "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ" + "ICF็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200343 +
http://nanbyodata.jp/ontology/NANDO_2200709 (rdf:type owl:Class @@ -114423,72 +171280,74 @@

hasNotificationNumber78hasNotificationNumber53
dcterms:description - "ๅŽŸ็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใฎ่‡ชๅพ‹็š„ใช้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)่ก€็—‡ใ€้ชจไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บใฎ่…บ่…ซใซใ‚ˆใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€้Žๅฝขๆˆใ€็™Œใซใ‚ˆใฃใฆใ‚‚ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚่…ŽๆฉŸ่ƒฝใŒๆญฃๅธธใง้ซ˜Ca่ก€็—‡ใจPTHใฎไธŠๆ˜‡ใจใ„ใ†ไบŒใคใฎ็Šถๆ…‹ใŒใ‚ใ‚Šใ€้ซ˜Caๅฐฟ็—‡ใŒใ‚ใ‚Œใฐใ€ๆœฌ็—‡ใฎๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚" + "DNAใƒŸใ‚นใƒžใƒƒใƒไฟฎๅพฉใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200343NANDO:2200709
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_14_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_016_01.pdf
rdfs:label - "Hyperparathyroidism" + "PMS2 deficiency" @en
rdfs:label - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "PMS2็•ฐๅธธ็—‡" @ja
+ rdfs:label + "ใดใƒผใˆใ‚€ใˆใ™2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00246http://nanbyodata.jp/ontology/NANDO_1200335
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_14_026/https://www.shouman.jp/disease/details/10_02_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100123
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001741http://nanbyodata.jp/ontology/NANDO_2100204
skos:prefLabel - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡" + "PMS2็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200344 +
http://nanbyodata.jp/ontology/NANDO_2200710 (rdf:type owl:Class @@ -114496,62 +171355,91 @@

hasNotificationNumber80hasNotificationNumber56
dcterms:description - "ๅ‰ฏ็”ฒ็Šถ่…บใฎ็™บ็”ŸใŒใชใ„ๅ ดๅˆใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใŒใ€ๆญฃๅธธใงใ‚‚ๅ‰ฏ็”ฒ็Šถ่…บใฏๅฐใ•ใใ€็”ปๅƒใงๆŒ‡ๆ‘˜ใ—ใŒใŸใใ€ๆฌ ๆใ—ใฆใ„ใ‚‹ใจ็ขบๅฎŸใซ็”ปๅƒ่จบๆ–ญใงใใชใ„ใ€‚่ก€ไธญใฎๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใŒๆธฌๅฎšๆ„Ÿๅบฆไปฅไธ‹ใซใชใ‚Šใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š่‘—ใ—ใ„ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ†ใ€‚็”ฒ็Šถ่…บๅ…จๆ‘˜ๅ‡บ่ก“ๆ™‚ใซๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๆฎ‹ๅญ˜ใ•ใ›ใชใ‘ใ‚Œใฐใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆใฎ็Šถๆ…‹ใจใชใ‚‹ใŒใ€้€šๅธธใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใฎไธ€้ƒจใ‚’็•ฐๆ‰€ๆ€งใซ็งปๆคใ™ใ‚‹ใ€‚" + "่›‹็™ฝใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200344NANDO:2200710
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_15_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_017_01.pdf
rdfs:label - "Parathyroid gland defect" + "RIDDLE syndrome" @en
rdfs:label - "ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡" + "RIDDLE็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_15_027/http://nanbyodata.jp/ontology/NANDO_1200336
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7037
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100124http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:altLabel + "Radiosensitivity, immunodeficiency dysmorphic features and learning difficulties syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012764
skos:prefLabel - "ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡" + "RIDDLE็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200345 +
http://nanbyodata.jp/ontology/NANDO_2200711 (rdf:type owl:Class @@ -114559,77 +171447,91 @@

hasNotificationNumber79hasNotificationNumber50
dcterms:description - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใฎๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹PTHๅˆ†ๆณŒไธๅ…จๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ€ๆจ™็š„่‡“ๅ™จใฎPTHใซๅฏพใ™ใ‚‹ไธๅฟœๆ€งใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกๅŽŸๅ› ใฎไธๆ˜Žใชใ‚‚ใฎใ‚’็‰น็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚ˆใถใŒใ€่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใŸๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใŠใ‚ˆใณ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฎๆฒป็™‚ใฎใŸใ‚ใซใ€ๅ‰ฏ็”ฒ็Šถ่…บใ‚ใ‚‹ใ„ใฏๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๅซใ‚€็”ฒ็Šถ่…บใ‚’ๆ‘˜้™คใ—ใŸๅ ดๅˆใซใ€ๅŒปๅŽŸๆ€งใซๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚PTHๅˆ†ๆณŒใฏ่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚Š่ชฟ็ฏ€ใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใฎๆ„Ÿ็Ÿฅใ‚ทใ‚นใƒ†ใƒ ใฎ้Žๅบฆใฎๆ„Ÿๅ—ๆ€งใฏPTHๅˆ†ๆณŒไฝŽไธ‹ใ‚’ไผดใ„ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡้กžไผผใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "ๆŸ“่‰ฒไฝ“ใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจ้€ ่ก€ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200345NANDO:2200711
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_15_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_018_01.pdf
rdfs:label - "Hypoparathyroidism" + "Schimke syndrome" @en
rdfs:label - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ—ใ‚€ใ‘ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01862http://nanbyodata.jp/ontology/NANDO_1200337
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_15_028/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2448
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100124http://nanbyodata.jp/ontology/NANDO_2100204
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001220 + skos:altLabel + "Schimke็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015895http://purl.obolibrary.org/obo/MONDO_0009458
skos:prefLabel - "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200346 +
http://nanbyodata.jp/ontology/NANDO_2200712 (rdf:type owl:Class @@ -114637,72 +171539,127 @@

hasNotificationNumber35hasNotificationNumber48
dcterms:description - "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค(Autoimmune polyglandular syndrome: APS)ใจใฏใ€่‡ชๅทฑๅ…็–ซๆ€งใฎ็—…ๆ…‹ใซใ‚ˆใ‚Š่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒๅ™จๅฎ˜ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎๅž‹ใซ่‡จๅบŠๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ASP Iๅž‹ใฏ,ๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ฒ˜่†œ็šฎ่†šใ‚ซใƒณใ‚ธใƒ€็—‡ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅ‰ฏ่…Žไธๅ…จ(ใ‚ขใ‚ธใ‚ฝใƒณ็—…)ใ‚’3ๅพดใจใ™ใ‚‹ใ€‚ๅˆฅ็งฐใจใ—ใฆAutoimmune polyendocrinopathy-candidiasis-ectodermal syndrome๏ผˆAPECED๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" + "ๆŸ“่‰ฒไฝ“22q11.2 ใฎๅพฎ็ดฐๆฌ ๅคฑใ‚’ๅŸบ็›คใจใ—ใฆใ€่ƒธ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ่ก€็ฎก็ณป็•ฐๅธธใ€ๅ‰ฏ็”ฒ็Šถ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€็‰นๅพด็š„ใชๅฃ่“‹้ก”่ฒŒ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200346NANDO:2200712
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_16_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_019_01.pdf
rdfs:label - "Autoimmune polyendocrinopathy type 1" + "Thymus hypoplasia" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹" + "ใใ‚‡ใ†ใ›ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„" + @ja-Hira
+ rdfs:label + "่ƒธ่…บไฝŽๅฝขๆˆ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2401http://nanbyodata.jp/ontology/NANDO_1200339
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_16_029/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1538
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1614
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100125http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:altLabel + "22q11.2 deletion syndrome" + @en
+ skos:altLabel + "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "DiGeorge syndrome" + @en
+ skos:altLabel + "ใƒ‡ใ‚ฃใƒปใ‚ธใƒงใƒผใ‚ธ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009411http://purl.obolibrary.org/obo/MONDO_0008564
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008644
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018923
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹" + "่ƒธ่…บไฝŽๅฝขๆˆ" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200347 +
http://nanbyodata.jp/ontology/NANDO_2200713 (rdf:type owl:Class @@ -114710,72 +171667,79 @@

hasNotificationNumber36hasNotificationNumber49
dcterms:description - "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œ๏ผŒ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ตทๅ› ใ—ใŸๅ†…ๅˆ†ๆณŒ่…บใ‚’ๅซใ‚€่ค‡ๆ•ฐ็ต„็น”ใฎๆฉŸ่ƒฝ้šœๅฎณใฎ็‰นๅพด็š„ใช็ต„ๅˆใ›ใงๅฎš็พฉใ•ใ‚Œใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค2ๅž‹ใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡(Addison็—…)๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃ(Basedow็—…๏ผŒๆฉ‹ๆœฌ็—…)๏ผŒ1ๅž‹็ณ–ๅฐฟ็—…๏ผŒๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผŒ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผŒใ‚ปใƒชใ‚ขใƒƒใ‚ฏ็—…ใฎใ†ใก2็จฎ้กžไปฅไธŠใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใพใŸ๏ผŒ2ๅž‹ใ‚’ใ•ใ‚‰ใซไธ‰ใคใซ็ดฐๅˆ†ใ™ใ‚‹็‹ญ็พฉใฎๅˆ†้กžใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚็‹ญ็พฉใฎๅˆ†้กžใงใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใ‚„๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใชใฉใฎ่‡ชๅทฑๅ…็–ซๆ€งๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ2ๅž‹๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใซๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ไปฅๅค–ใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ3ๅž‹๏ผŒ1๏ฝž3ๅž‹ใซ่ฉฒๅฝ“ใ—ใชใ„่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹ๅ ดๅˆใซ4ๅž‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹.็—‡ๅ€™็พคๅใ‹ใ‚‰ใฏๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใซ้™ๅฎšใ•ใ‚Œใ‚‹ๅฐ่ฑกใ‚’ๅ—ใ‘ใ‚‹ใŒ๏ผŒๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ็™ฝๆ–‘๏ผŒ็ฆฟ้ ญ๏ผŒ็ดซ่†œ็‚Ž๏ผŒๆ‚ชๆ€ง่ฒง่ก€ใชใฉๅคšใใฎ้žๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ†ใ‚‹ใ€‚ๆœฌใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏๆททๅŒใ‚’้ฟใ‘ใ‚‹ใŸใ‚๏ผŒ็ตฑไธ€ใ—ใฆ็‹ญ็พฉใฎๅˆ†้กžใ‚’ไฝฟ็”จใ™ใ‚‹ใ“ใจใจใ™ใ‚‹." + "้ซ˜IgE็—‡ๅ€™็พคใฏใ€้ป„่‰ฒใƒ–ใƒ‰ใ‚ฆ็ƒ่Œใ‚’ไธญๅฟƒใจใ™ใ‚‹็ดฐ่ƒžๅค–ๅฏ„็”Ÿ็ดฐ่Œใซใ‚ˆใ‚‹็šฎ่†š่†ฟ็˜ใจ่‚บ็‚Žใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€่ก€ๆธ…IgEใฎ้ซ˜ๅ€คใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200347NANDO:2200713
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_16_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_020_01.pdf
rdfs:label - "Autoimmune polyendocrinopathy type 2" + "Hyper-IgE syndrome" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹" + "ใ“ใ†ใ‚ใ„ใ˜ใƒผใ„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜IgE็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2995http://nanbyodata.jp/ontology/NANDO_1200340
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_16_030/https://www.shouman.jp/disease/details/10_02_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100125http://nanbyodata.jp/ontology/NANDO_2100204
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010012http://purl.obolibrary.org/obo/MONDO_0018037
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹" + "้ซ˜IgE็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200348 +
http://nanbyodata.jp/ontology/NANDO_2200714 (rdf:type owl:Class @@ -114783,72 +171747,91 @@

hasNotificationNumber8hasNotificationNumber47
dcterms:description - "Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใฎๅพดๅ€™ใฎ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ€ใƒชใƒณๅ€คใซ็•ฐๅธธใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃใ€‚Iaๅž‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅฎถ็ณปใฎไธญใซๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–ใจ่‚่„พ่…ซใŠใ‚ˆใณไบŒๆฌก็š„ใช่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200348NANDO:2200714
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_17_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_021_01.pdf
rdfs:label - "Pseudopseudohypoparathyroidism" + "Hepatic veno-occlusive disease with immunodeficiency" @en
rdfs:label - "ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ‹ใ‚“ใกใ‚…ใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7158http://nanbyodata.jp/ontology/NANDO_1200341
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_17_031/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2325
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100126http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:altLabel + "VODI" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012912http://purl.obolibrary.org/obo/MONDO_0009338
skos:prefLabel - "ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200349 +
http://nanbyodata.jp/ontology/NANDO_2200715 (rdf:type owl:Class @@ -114856,72 +171839,86 @@

hasNotificationNumber9hasNotificationNumber51
dcterms:description - "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใซๅฏพใ—ใฆๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€PTHใŒๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใŒๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’PHPIaใจๅ‘ผใถใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IbใซใŠใ„ใฆใฏใ€AHOๅพดๅ€™ใฏไผดใ‚ใšใ€PTHใฎๆŠตๆŠ—ๆ€งใฏใปใผ่…Ž่‡“ใซ้™ๅฑ€ใ—ใฆใ„ใ‚‹ใ€‚IIๅž‹ใฏใ€cAMPใฎๅๅฟœใŒใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ไฟƒ้€ฒใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—…ๅž‹ใงใ‚ใ‚‹ใŒใ€้žๅธธใซ็จ€ใงใ‚ใ‚Šใ€ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚" + "ใƒ†ใƒญใƒกใ‚ข้•ทใฎ็ถญๆŒๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’่ƒŒๆ™ฏใจใ—ใ€็ˆชใฎ่Ž็ธฎใ€ๅฃ่…”ๅ†…็™ฝๆ–‘ใ€็šฎ่†š่‰ฒ็ด ๆฒˆ็€ใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„ใชๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ใฎไป–ใซ๏ผŒๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹Hoyeraal-Hreidarsson็—‡ๅ€™็พคใ€Revesz็—‡ๅ€™็พคใฎไป–ใ€ไธๅ…จๅž‹ใงใ‚ใ‚‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚„ๅฎถๆ—ๆ€ง่‚บ็ทš็ถญ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200349NANDO:2200715
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_17_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_02_022_01.pdf
rdfs:label - "Pseudohypoparathyroidism" + "dyskeratosis congenita" @en
rdfs:label - "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00244https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00507
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_17_032/https://www.shouman.jp/disease/details/10_02_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100126http://nanbyodata.jp/ontology/NANDO_2100204
+ skos:altLabel + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019992http://purl.obolibrary.org/obo/MONDO_0015780
skos:prefLabel - "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - - - + "X-linked agammaglobulinaemia" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#2200350 +
http://nanbyodata.jp/ontology/NANDO_2200716 (rdf:type owl:Class @@ -114929,89 +171926,98 @@

hasNotificationNumber11hasNotificationNumber2
dcterms:description - "่ฆ–ๅบŠไธ‹้ƒจๅฎคๅ‚ๆ ธใง็”ฃ็”Ÿใ•ใ‚Œใ‚‹CRHใฏไธ‹ๅž‚ไฝ“้–€่„ˆใ‚’็ตŒใฆไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซ่‡ณใ‚Šใ€ACTH็ดฐ่ƒžใซๅƒใ„ใฆACTHใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ACTHใฏๅ…จ่บซใซๅˆ†ๆณŒใ•ใ‚Œๅ‰ฏ่…Ž็šฎ่ณชใซไฝœ็”จใ—ใฆใ‚ณใƒซใƒใ‚พใƒผใƒซใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒใ™ใ€‚ๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ่ก€ไธญใ‚ณใƒซใƒใ‚พใƒผใƒซใฏ่ฆ–ๅบŠไธ‹้ƒจ๏ผไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซไฝœ็”จใ—CRHใจACTHใฎๅˆ†ๆณŒใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ใƒใ‚ฌใƒ†ใ‚ฃใƒ–ใƒ•ใ‚ฃใƒผใƒ‰ใƒใƒƒใ‚ฏใจใ„ใ†ใ€‚ๅ‰ฏ่…Žใ‹ใ‚‰ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๆ…ขๆ€ง็š„ใซๅˆ†ๆณŒ้Žๅ‰ฐใซใชใ‚Šใ€็‰น็•ฐ็š„ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ‚’ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใฎๅ ดๅˆACTHๅˆ†ๆณŒใŒ้Žๅ‰ฐใจใชใ‚ŠไบŒๆฌก็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๅข—ๅŠ ใ™ใ‚‹ๅ ดๅˆใ‚’ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ„ใ€ๅ‰ฏ่…Žใ‹ใ‚‰่‡ชๅพ‹็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚’ACTH้žไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใพใŸใฏๅ‰ฏ่…Žๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซใฏใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTHใŒ่‡ชๅพ‹็š„ใซ้Žๅ‰ฐๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ่…ซ็˜ใ‹ใ‚‰ACTHใŒ้Žๅ‰ฐใซ็”ฃ็”Ÿใƒปๅˆ†ๆณŒใ•ใ‚Œใ‚‹็•ฐๆ‰€ๆ€งACTH็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใซใ›ใ‚ˆใ€่ฆ–ๅบŠไธ‹้ƒจCRHๅˆ†ๆณŒใฏๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใฏๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡ๅ€™ใ‚’็คบใ•ใšใ€ไธ‹ๅž‚ไฝ“่…ซ็˜ใŒ็–‘ใ‚ใ‚Œใ€ไบŒๆฌก็š„ใช่€็ณ–่ƒฝ็•ฐๅธธใ‚„้ซ˜่ก€ๅœงใฎ็ฒพๆŸปใฎ้€”ไธญใงACTH-ใ‚ณใƒซใƒใ‚พใƒผใƒซ็ณปใฎ่‡ชๅพ‹็š„ใชๅˆ†ๆณŒ็•ฐๅธธใŒใฟใคใ‹ใ‚‹ใ‚ตใƒ–ใ‚ฏใƒชใƒ‹ใ‚ซใƒซใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจใ„ใ†็–พๆ‚ฃๆฆ‚ๅฟตใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใฏ็—…็†ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็ตŒ้ŽใŒ้•ทๅผ•ใใจ่‡จๅบŠ็š„ใซใฏๆฒป็™‚ใŒ้›ฃใ—ใๆ‚ชๆ€งใซไผผใฆใ„ใ‚‹ใจใ„ใˆใ‚‹ใ€‚" + "็ดฐ่Œๆ„ŸๆŸ“ใซ็ฝนใ‚Šใ‚„ใ™ใใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgGใ€IgAใ€IgMใ€ใ™ในใฆใฎใ‚ฏใƒฉใ‚นใฎๅ€คใฎไฝŽไธ‹ใŒ่‘—ใ—ใใ€ๆœซๆขข่ก€B็ดฐ่ƒžๆฏ”็Ž‡ใŒ2%ไปฅไธ‹ใฎ็”ทๅญใฎๅ ดๅˆใ€X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆX-linked agammaglobulinemia: XLA๏ผ‰ใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200350NANDO:2200716
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_023_01.pdf
rdfs:label - "Cushing disease" + "X-linked agammaglobulinemia" @en
rdfs:label - "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" + "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚€ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2030http://nanbyodata.jp/ontology/NANDO_1200343
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_033/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7155
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100127http://nanbyodata.jp/ontology/NANDO_2100205
skos:altLabel - "Cushing็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003009
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009050 + skos:altLabel + "XLA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018912http://purl.obolibrary.org/obo/MONDO_0010421
skos:prefLabel - "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…" + "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "CVID" + @en - +
http://nanbyodata.jp/ontology/nando#2200351 +
http://nanbyodata.jp/ontology/NANDO_2200717 (rdf:type owl:Class @@ -115019,74 +172025,86 @@

hasNotificationNumber10hasNotificationNumber7
dcterms:description - "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ็ต„็น”ใซใฆACTHใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚’ๅˆบๆฟ€ใ—ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ‚’ๅผ•ใ่ถŠใ™ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ใพใ‚ŒใซACTHๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ็•ฐๅธธ(CRH)ใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆcommon variable immunodeficiency: CVID๏ผ‰ใฏไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใŸใ‚ใซ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏ่ชใ‚ใ‚‰ใ‚Œใšใ€20๏ฝž40ไปฃใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅฐๅ…ใ‚„้ซ˜้ฝข่€…ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200351NANDO:2200717
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_024_01.pdf
rdfs:label - "Ectopic ACTH syndrome" + "Common variable immunodeficiency" @en
rdfs:label - "็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค" + "ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใŒใŸใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_034/http://nanbyodata.jp/ontology/NANDO_1200344
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100127http://nanbyodata.jp/ontology/NANDO_2100205
skos:altLabel - "ACTH็”ฃ็”Ÿ็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0043472http://purl.obolibrary.org/obo/MONDO_0015517
skos:prefLabel - "็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค" + "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200352 +
http://nanbyodata.jp/ontology/NANDO_2200718 (rdf:type owl:Class @@ -115094,67 +172112,79 @@

hasNotificationNumber12hasNotificationNumber3
dcterms:description - "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž่…บ่…ซใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚" + "B็ดฐ่ƒžใฎๅ†…ๅ› ๆ€งใฎใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๆธ…IgMๅ€คใŒๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚Šใ€ๆœ€่ฟ‘ใฏใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ็•ฐๅธธ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" @ja
dcterms:identifier2200352NANDO:2200718
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_025_01.pdf
rdfs:label - "Adrenal adenoma" + "Hyper-IgM syndrome" @en
rdfs:label - "ๅ‰ฏ่…Ž่…บ่…ซ" + "ใ“ใ†ใ‚ใ„ใ˜ใƒผใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้ซ˜IgM็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_035/http://nanbyodata.jp/ontology/NANDO_1200345
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100127http://nanbyodata.jp/ontology/NANDO_2100205
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003924http://purl.obolibrary.org/obo/MONDO_0003947
skos:prefLabel - "ๅ‰ฏ่…Ž่…บ่…ซ" + "้ซ˜IgM็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + + "ใ‚ใ„ใ˜ใƒผใ˜ใƒผใ•ใถใใ‚‰ใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200353 +
http://nanbyodata.jp/ontology/NANDO_2200719 (rdf:type owl:Class @@ -115162,72 +172192,84 @@

hasNotificationNumber13hasNotificationNumber1
dcterms:description - "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ็—‡ใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚" + "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚น๏ผˆIgG1, IgG2, IgG3, IgG4๏ผ‰ใฎใ†ใก1ใคใชใ„ใ—ใฏใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใฎๆฌ ๆใชใ‚‰ใณใซไฝŽไธ‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚IgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚IgG2ๆฌ ๆ็—‡ใฏIgG4ๆฌ ๆ็—‡ใ€ใ•ใ‚‰ใซใฏIgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200353NANDO:2200719
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_026_01.pdf
rdfs:label - "ACTH-independent macronodular adrenal hyperplasia" + "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Isolated IgG subclass deficiency" @en
rdfs:label - "ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2029http://nanbyodata.jp/ontology/NANDO_1200346
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_036/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7815
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100127http://nanbyodata.jp/ontology/NANDO_2100205
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020735http://purl.obolibrary.org/obo/MONDO_0013576
skos:prefLabel - "ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ" + "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "Selective IgA deficiency" + @en + "ใ›ใ‚“ใŸใใฆใใ‚ใ„ใ˜ใƒผใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200354 +
http://nanbyodata.jp/ontology/NANDO_2200720 (rdf:type owl:Class @@ -115235,82 +172277,79 @@

hasNotificationNumber14hasNotificationNumber4
dcterms:description - "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฎใ†ใกใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใ€็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พคใ€ๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚" + "้ธๆŠž็š„IgAๆฌ ๆ็—‡ใฏ4ๆญณไปฅไธŠใง่ก€ๆธ…IgAๅ€คใŒ7mg/dLไปฅไธ‹ใงใ€่ก€ๆธ…IgGใŠใ‚ˆใณIgMๅ€คใŒๆญฃๅธธใชๆ‚ฃ่€…ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200354NANDO:2200720
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_18_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_027_01.pdf
rdfs:label - "33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค" - @ja
rdfs:label - "Cushing syndrome" - @en
+ rdfs:label + "้ธๆŠž็š„IgAๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2030http://nanbyodata.jp/ontology/NANDO_1200347
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_18_037/https://www.shouman.jp/disease/details/10_03_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100127
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003009
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009050http://nanbyodata.jp/ontology/NANDO_2100205
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018912http://purl.obolibrary.org/obo/MONDO_0001341
skos:prefLabel - "33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค" + "้ธๆŠž็š„IgAๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200355 +
http://nanbyodata.jp/ontology/NANDO_2200721 (rdf:type owl:Class @@ -115318,79 +172357,79 @@

hasNotificationNumber83hasNotificationNumber5
dcterms:description - "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎACTHๅˆ†ๆณŒใŒใ€ไธ‹ๅž‚ไฝ“ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ใ‚‹ใ„ใฏใ•ใ‚‰ใซไธŠไฝใฎไธญๆžขใฎๅ•้กŒใซใ‚ˆใ‚Šใ€้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใ€‚ๆ…ขๆ€งใฎACTHๅˆ†ๆณŒไธๅ…จใงใฏใ€ๅ‰ฏ่…Ž็šฎ่ณชใฏ่Ž็ธฎ็Šถใจใชใ‚Šใ€ๆฉŸ่ƒฝใฎไฝŽไธ‹ใ‚’ๆ‹›ใใŸใ‚ใ€ไบŒๆฌกๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚‚ใ„ใ†ใ€‚" + "2ๆญณไปฅไธŠใงใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใชใ‚‰ใณใซIgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใŒๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅคš็ณ–ไฝ“ๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹IgGๆŠ—ไฝ“ๅๅฟœใฎๆฌ ๅฆ‚ใฎใŸใ‚ใ€ๅๅพฉๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200355NANDO:2200721
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_028_01.pdf
rdfs:label - "Isolated ACTH deficiency" + "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" @en
rdfs:label - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡" + "ใจใใ„ใ“ใ†ใŸใ„ใ•ใ‚“ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1691http://nanbyodata.jp/ontology/NANDO_1200348
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_038/https://www.shouman.jp/disease/details/10_03_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100128
- skos:altLabel - "ACTHๅ˜็‹ฌๆฌ ๆ็—‡" - @jahttp://nanbyodata.jp/ontology/NANDO_2100205
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008720http://purl.obolibrary.org/obo/MONDO_0015711
skos:prefLabel - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡" + "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200356 +
http://nanbyodata.jp/ontology/NANDO_2200722 (rdf:type owl:Class @@ -115398,69 +172437,86 @@

hasNotificationNumber84hasNotificationNumber6
dcterms:description - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocortocotropin)ใฎๅˆบๆฟ€ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚ˆใ‚Š็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใ€ๅ‰ฏ่…Žไธๅ…จใ‚’่ตทใ“ใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚" + "6ใ‹ๆœˆไปฅ้™ใฎไนณๅ…ใง่ก€ๆธ…IgGๅ€คใŒๅนด้ฝข็›ธๅฝ“ใฎ-2SDๆœชๆบ€ใงใ€IgAใŠใ‚ˆใณIgMใŒๆญฃๅธธใงใ‚ใ‚Šใ€ใใฎไป–ใฎๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใŒๅฆๅฎšใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200356NANDO:2200722
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_029_01.pdf
rdfs:label - "ACTH unresponsiveness" + "Transient hypogammaglobulinemia of infancy with normal numbers of B cells" @en
rdfs:label - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ใซใ‚…ใ†ใ˜ใ„ใฃใ‹ใ›ใ„ใฆใ„ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_039/http://nanbyodata.jp/ontology/NANDO_1200349
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100128http://nanbyodata.jp/ontology/NANDO_2100205
skos:altLabel - "ACTHไธๅฟœ็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015698
skos:prefLabel - "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡" + "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + "23ใ‹ใ‚‰29ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใˆใใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใ—ใ‚…ใจใ™ใ‚‹ใ—ใฃใ‹ใ‚“" + @ja-Hira - - - - - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200357 +
http://nanbyodata.jp/ontology/NANDO_2200723 (rdf:type owl:Class @@ -115468,82 +172524,69 @@

hasNotificationNumber82hasNotificationNumber8
dcterms:description - "ๅ‰ฏ่…Ž็šฎ่ณชใฎ็™บ็”Ÿใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ‰ฏ่…ŽใฎไฝŽๅฝขๆˆใ‚’่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅนผๅฐๅ…ๆœŸใซๅคšใ„ใŒใ€ๅฐๅ…โ€•ๆ€ๆ˜ฅๆœŸโ€•้’ๅนดๆœŸใซใ‹ใ‘ใฆ็™บ็—‡ใ™ใ‚‹้…็™บๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ‰ฏ่…Žใฎ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚" + "ๅๅพฉๆ€งใฎไธŠไธ‹ๆฐ—้“ๆ„ŸๆŸ“ใฎๅญ˜ๅœจใ‹ใ‚‰ๆถฒๆ€งๅ…็–ซไธๅ…จ็—‡๏ผˆๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡๏ผ‰ใŒ็–‘ใ‚ใ‚Œใ‚‹ใŒใ€ๅ‰่ฟฐใฎใ‚ˆใ†ใชๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใชใ„็–พๆ‚ฃใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200357NANDO:2200723
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_03_030_01.pdf
rdfs:label - "Congenital adrenal hypoplasia" - @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" + "23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3254
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01772 + rdfs:label + "Other predominantly antibody deficiencies" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_040/https://www.shouman.jp/disease/details/10_03_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100128
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010264
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016241http://nanbyodata.jp/ontology/NANDO_2100205
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡" + "23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200358 +
http://nanbyodata.jp/ontology/NANDO_2200724 (rdf:type owl:Class @@ -115551,72 +172594,103 @@

hasNotificationNumber81hasNotificationNumber43
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๆ…ขๆ€ง็š„ใช้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆบ€ๆœˆๆง˜้ก˜่ฒŒใ€ไธญๅฟƒๆ€ง่‚ฅๆบ€ใ€buffalo humpใ€็šฎ่†š็ทšๆกใชใฉใฎใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซ็‰นๅพด็š„ใชๅพดๅ€™ใ‚’ๆฌ ใ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" + "CHSใฏใ€็ดฐ่ƒžๅ†…่›‹็™ฝ่ผธ้€ใซใ‹ใ‹ใ‚ใ‚‹CHS1/LYST้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็™ฝ่ก€็ƒๅ†…ใฎๅทจๅคง้ก†็ฒ’ใ‚’็‰นๅพดใจใ—ใ€้ƒจๅˆ†็š„็™ฝๅญ็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใชใฉใ‚’็คบใ™ใ€‚ๆœ€่ฟ‘ใฏใ€็™ฝๅญ็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใฎไธ€ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200358NANDO:2200724
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_031_01.pdf
rdfs:label - "Glucocorticoid resistance" + "Chรฉdiak-Higashi syndrome" @en
rdfs:label - "ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡" + "ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=665http://nanbyodata.jp/ontology/NANDO_1200350
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_041/http://nanbyodata.jp/ontology/NANDO_1200639
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1940
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100128http://nanbyodata.jp/ontology/NANDO_2100206
+ skos:altLabel + "CHS" + @en
+ skos:altLabel + "Chediak-Higashi็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014421http://purl.obolibrary.org/obo/MONDO_0008963
skos:prefLabel - "ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡" + "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200359 +
http://nanbyodata.jp/ontology/NANDO_2200725 (rdf:type owl:Class @@ -115624,84 +172698,86 @@

hasNotificationNumber85hasNotificationNumber41
dcterms:description - "ๅพŒๅคฉ็š„ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผ‰ใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏ1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€Addison็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œ่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจ ใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "XLPใฏใ€EBใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹็‰น็•ฐ็š„ๅ…็–ซๅฟœ็ญ”ใฎๆฌ ้™ฅใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๅŽŸๅ› ้บไผๅญใŒ2ใค็Ÿฅใ‚‰ใ‚Œใ€SAP/SH2D1A้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹SAP (SLAM-associated protein) ๆฌ ๆ็—‡ใ‚’XLP1ใ€XIAP/BIRC4้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹XIAP (X-linked inhibitor of apoptosis) ๆฌ ๆ็—‡ใ‚’XLP2ใจๅ‘ผใถใ€‚" @ja
dcterms:identifier2200359NANDO:2200725
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_032_01.pdf
rdfs:label - "38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "X-linked lymphoproliferative syndrome" + @en
+ rdfs:label + "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" @ja
rdfs:label - "Other chronic adrenal insufficiency" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400http://nanbyodata.jp/ontology/NANDO_1200351
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_042/https://www.shouman.jp/disease/details/10_04_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100128http://nanbyodata.jp/ontology/NANDO_2100206
skos:altLabel - "Addison disease" + "XLP" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015129http://purl.obolibrary.org/obo/MONDO_0010627
skos:prefLabel - "38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200360 +
http://nanbyodata.jp/ontology/NANDO_2200726 (rdf:type owl:Class @@ -115709,75 +172785,93 @@

hasNotificationNumber85hasNotificationNumber42
+ dcterms:description + "ALPSใฏใ‚ขใƒใƒˆใƒผใ‚ทใ‚น๏ผˆ็ดฐ่ƒžๆญป๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใ‚Šใƒชใƒณใƒ‘็ƒๅข—ๆฎ–ใ‚’ใใŸใ—ใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ‚„่‚่„พ่…ซใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’็คบใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚FASไพๅญ˜ใฎ็ดฐ่ƒžๆญป็ตŒ่ทฏใซใ‹ใ‹ใ‚ใ‚‹FASใ€FASใƒชใ‚ฌใƒณใƒ‰ใ€ใ‚ซใ‚นใƒšใƒผใ‚น10ใฎ้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚CD3+ TCRฮฑฮฒ+ CD4- CD8- ใฎใƒ€ใƒ–ใƒซใƒใ‚ฌใƒ†ใ‚ฃใƒ–T็ดฐ่ƒžใฎๅข—ๅŠ ใŒ็‰น่‰ฒใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200360NANDO:2200726
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_19_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_033_01.pdf
rdfs:label - "Addison disease" + "Autoimmune lymphoproliferative syndrome" @en
rdfs:label - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2400 + rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01598http://nanbyodata.jp/ontology/NANDO_1200352
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_19_042/https://www.shouman.jp/disease/details/10_04_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200359http://nanbyodata.jp/ontology/NANDO_2100206
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009410 + skos:altLabel + "ALPS" + @en
+ skos:altLabel + "ALPS" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015129http://purl.obolibrary.org/obo/MONDO_0017979
skos:prefLabel - "ใ‚ขใ‚ธใ‚ฝใƒณ็—…" + "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "31ใ‹ใ‚‰33ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ใ‚“ใˆใใกใ‚‡ใ†ใ›ใคใ—ใ‚‡ใ†ใŒใ„" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200361 +
http://nanbyodata.jp/ontology/NANDO_2200727 (rdf:type owl:Class @@ -115785,62 +172879,69 @@

hasNotificationNumber1hasNotificationNumber44
dcterms:description - "ๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡๏ผˆprimary aldosteronism:PA๏ผ‰ใฏใ€ๅ‰ฏ่…Ž็šฎ่ณช็—…ๅค‰๏ผˆๅ‰ฏ่…Ž็šฎ่ณช่…ซ็˜ใพใŸใฏ้Žๅฝขๆˆ็—…ๅค‰๏ผ‰ใซใ‚ˆใ‚Šใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ่‡ชๅพ‹็š„้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใ˜ใŸ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้ซ˜่ก€ๅœง็—‡ไพ‹ใซใฆไฝŽใƒฌใƒ‹ใƒณๆ€ง้ซ˜ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ่ก€็—‡ใ‚’ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ™ใ‚‹ใ€‚็ขบ่ช่ฉฆ้จ“ใฎๅพŒๅ‰ฏ่…Ž็—…ๅค‰ใฎๅฑ€ๅœจ่จบๆ–ญใ‚’่กŒใ†ใ€‚PAใฎ็—…ๅž‹ๅˆ†้กžใซใฆใ€็‰‡ๅดๆ€งใ‹ไธกๅดๆ€งใซๅˆ†ใ‘ใฆ่€ƒใˆใ‚‹ใจ็†่งฃใ—ๆ˜“ใ„ใ€‚ใ™ใชใ‚ใกใ€๏ผ‘๏ผ‰็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ๅ‰ฏ่…Ž่…บ่…ซ(aldosterone producing adenoma:APA)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ(unilateral adrenal hyperplaia:UAH)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Žๅคš็™บๅพฎๅฐ็ต็ฏ€๏ผˆunilateral multiple micronodules:UMN๏ผ‰ใ€ใ€€็™Œ่…ซ(aldosterone producing carcinoma:APC)ใ€๏ผ’๏ผ‰ไธกๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ไธกๅดๅ‰ฏ่…Ž้Žๅฝขๆˆ๏ผˆidiopathic hyperaldosteronism:IHA๏ผ‰ใ€ใ€€ไธกๅดๅ‰ฏ่…Ž่…บ่…ซ๏ผˆbilateral APAs๏ผ‰ใ€ใ€€็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅๅฟœๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ (glucocorticoidใ€€suppressiveใ€€hyperaldosteronism:GSH)ใงใ‚ใ‚‹ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใงใƒŠใƒชใ‚ฆใƒ (Na)่ฒฏ็•™ใซๅ‚พใไฝ“ๆถฒๅข—ๅŠ ใซๅพ“ใฃใฆ้ซ˜่ก€ๅœงใŒ็”Ÿใ˜ใ€ๅŒๆ™‚ใซใ‚ซใƒชใ‚ฆใƒ ๏ผˆK๏ผ‰ๆŽ’ๆณ„ๅข—ๅŠ  ใซใ‚ˆใ‚‹ไฝŽK่ก€็—‡ใ€HCO๏ผ“ๅข—ๅŠ ใซใ‚ˆใ‚‹ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใ€ใใ—ใฆใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณ๏ผˆ่„ณๅ‡บ่ก€ใ€่„ณๆข—ๅกžใ€ๅฟƒ็ญ‹ๆข—ๅกžใ€ๅฟƒ่‚ฅๅคงใ€ไธๆ•ด่„ˆใ€่…Žไธๅ…จ็ญ‰๏ผ‰ใ‚’ใ‚‚ใŸใ‚‰ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰ใงใ‚ใ‚Œใฐ ใใฎๆ‘˜ๅ‡บใ‚’ใ€ไธกๅด็—…ๅค‰ใงใฏใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅ‰ค๏ผˆๆœ€่ฟ‘ใงใฏใ€ไธกๅดๅ‰ฏ่…Žใฎ้ƒจๅˆ†ๆ‘˜ๅ‡บใ‚‚่กŒใ†๏ผ‰ใ€GSHใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๅ‰คใชใฉใซใ‚ˆใ‚‹่–ฌ็‰ฉ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚ใชใŠใ€้ฃŸๅกฉๆ‘‚ๅ–้‡ใ‚„่–ฌ็‰ฉใฎๅฝฑ้Ÿฟใซใ‚ˆใ‚Šๅˆ่จบๆ™‚ใซไฝŽ๏ผซ่ก€็—‡ใ‚’็คบใ•ใชใ„็—‡ไพ‹ใ‚‚ๅคšใ„ใฎใงใ€ๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ใ‚ญใƒฉใƒผ๏ผด็ดฐ่ƒžใ‚„NK็ดฐ่ƒžใฎๆ„ŸๆŸ“็ดฐ่ƒžใชใฉใฎๆŽ’้™คๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ…็–ซๅๅฟœใฎๅˆถๅพก็•ฐๅธธใŒใŠใใŸใ‚Šใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใซใ‚ˆใ‚Š่‡ชๅทฑๆŠ—ไฝ“็”ฃ็”Ÿใ‚’ใใŸใ™็–พๆ‚ฃใ‚’ๅซใ‚€ใ€‚2014ๅนดใฎIUISๅˆ†้กžใซใŠใ„ใฆใ€31ใ‹ใ‚‰33ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใจใ—ใฆใ€ไธ‹่จ˜ใŒใ‚ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใฏๆฏŽๅนดๆ–ฐใ—ใ„ๅŽŸๅ› ้บไผๅญใ‚„็–พๆ‚ฃใŒ่ฆ‹ๅ‡บใ•ใ‚ŒใฆใŠใ‚Šใ€ใใฎ้ƒฝๅบฆใ€ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ่ฟฝๅŠ ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ—ข็Ÿฅใฎ็–พๆ‚ฃใซๅฎŒๅ…จใซไธ€่‡ดใ—ใชใ„ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚„่จบๆ–ญใซใคใ„ใฆๅฐ‚้–€็š„ใชๆคœ่จŽใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใŒ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ€Primary Immunodeficiency Database in Japan (PIDJ) (http://pidj.rcai.riken.jp/) ใฎๆ‚ฃ่€…็›ธ่ซ‡ใƒ•ใ‚ฉใƒผใƒ ใง็›ธ่ซ‡ใ™ใ‚‹ใ“ใจใŒๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใจใใฎ้กž็ธ็–พๆ‚ฃใ€‚ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡๏ผˆFHL2๏ผ‰ใ€UNC13D/Munc13-4ๆฌ ๆ็—‡๏ผˆFHL3๏ผ‰ใ€Syntaxin11ๆฌ ๆ็—‡๏ผˆFHL4๏ผ‰ใ€STXBP2/Munc18-2ๆฌ ๆ็—‡๏ผˆFHL5๏ผ‰ใ€Gricelli็—‡ๅ€™็พค2ๅž‹ใ€Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พคใ€‚ITKๆฌ ๆ็—‡ใ€CD27ๆฌ ๆ็—‡ๅˆถๅพกๆ€งT็ดฐ่ƒžใฎ้บไผๅญ็š„ๆฌ ้™ฅใ€‚IPEX็—‡ๅ€™็พคใ€CD25ๆฌ ๆ็—‡ใ€STAT5bๆฌ ๆ็—‡ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ใ‚’ไผดใ‚ใชใ„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆAPECED๏ผ‰ใ€ITCHๆฌ ๆ็—‡่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค๏ผˆALPS๏ผ‰้กž็ธ็–พๆ‚ฃใ€‚ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ใ€FADDๆฌ ๆ็—‡ใ€CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใ€PRKCฮดๆฌ ๆ็—‡่…ธ็‚Žใ‚’ไผดใ†ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ€‚IL-10ๆฌ ๆ็—‡ใ€IL-10Rฮฑๆฌ ๆ็—‡ใ€IL-10Rฮฒๆฌ ๆ็—‡Iๅž‹ใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ็•ฐๅธธ็—‡ใ€‚TREX1ๆฌ ๆ็—‡๏ผˆAicardiโ€“Goutieres็—‡ๅ€™็พค1, AGS1๏ผ‰ใ€RNASEH2Bๆฌ ๆ็—‡๏ผˆAGS2๏ผ‰ใ€RNASEH2Cๆฌ ๆ็—‡๏ผˆAGS3๏ผ‰ใ€RNASEH2Aๆฌ ๆ็—‡๏ผˆAGS4a๏ผ‰ใ€SAMHD1ๆฌ ๆ็—‡๏ผˆAGS5๏ผ‰ใ€ADAR1ๆฌ ๆ็—‡๏ผˆAGS6๏ผ‰ใ€Spondylo enchondro-dysplasiawith immune dysregulation (SPENCD)ใ€‚" @ja
dcterms:identifier2200361NANDO:2200727
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_20_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Aldosteronism" - @en
rdfs:label - "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" @ja
+ rdfs:label + "Other diseases of immune dysregulation" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_20_043/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100129http://nanbyodata.jp/ontology/NANDO_2100206
skos:prefLabel - "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + "FHL2" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#2200362 +
http://nanbyodata.jp/ontology/NANDO_2200728 (rdf:type owl:Class @@ -115848,91 +172949,93 @@

hasNotificationNumber86
- dcterms:description - "Apparentใ€€Mineralocorticoid Excess็—‡ๅ€™็พค(AME)ใฏ่‡จๅบŠ็š„ใซใฏไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็”Ÿ็†้‡ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅ—ๅฎนไฝ“(MR)ใซ็ตๅˆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญฆ็š„ใซ11ฮฒ hydroxysteroid dehydorgenase (HSD) type2้บไผๅญ๏ผˆHSD11B2๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200362NANDO:2200728
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_21_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Apparent mineralocorticoid excess syndrome" + "perforin deficiency" @en
rdfs:label - "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค" + "ใฑใƒผใตใ‰ใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2003http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4156
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_21_044/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100130http://nanbyodata.jp/ontology/NANDO_2200727
skos:altLabel - "AME syndrome" + "FHL type 2" @en
skos:altLabel - "AME็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006657 + skos:altLabel + "Familial hemophagocytic lymphohistiocytosis 2" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009025http://purl.obolibrary.org/obo/MONDO_0011337
skos:prefLabel - "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค" + "ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - + + "FHL type 3" + @en - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200363 +
http://nanbyodata.jp/ontology/NANDO_2200729 (rdf:type owl:Class @@ -115940,89 +173043,93 @@

hasNotificationNumber87
- dcterms:description - "Liddle็—‡ๅ€™็พคใฏ1993ๅนดใซLiddleใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่‹ฅๅนดๆ€ง้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ€ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใŒใ€่ก€ๆผฟใƒฌใƒ‹ใƒณๆดปๆ€งใ€่ก€ๆผฟใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฏไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้ฃŸๅกฉๆ„Ÿๅ—ๆ€ง้ซ˜่ก€ๅœง็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200363NANDO:2200729
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_22_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Liddle syndrome" + "UNC13D/Munc13-4 deficiency" @en
rdfs:label - "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค" + "UNC13D/Munc13-4ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1304 + rdfs:label + "ใ‚†ใƒผใˆใฌใ—ใƒผ13ใงใƒใƒผ/ใˆใ‚€ใ‚†ใƒผใˆใฌใ—ใƒผ13โˆ’4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00242http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6418
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_22_045/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100131http://nanbyodata.jp/ontology/NANDO_2200727
skos:altLabel - "Liddle็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008323 + skos:altLabel + "FHL3" + @en
+ skos:altLabel + "Familial hemophagocytic lymphohistiocytosis 3" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020607http://purl.obolibrary.org/obo/MONDO_0012146
skos:prefLabel - "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค" + "UNC13D/Munc13-4ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + + + + + - + + + + + - + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200364 +
http://nanbyodata.jp/ontology/NANDO_2200730 (rdf:type owl:Class @@ -116030,48 +173137,93 @@

hasNotificationNumber69
- dcterms:description - "ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ไนใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ใƒฌใƒ‹ใƒณใŒไธŠๆ˜‡ใ›ใšใ€้€†ใซไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200364NANDO:2200730
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_23_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "Syntaxin 11 deficiency" + @en
+ rdfs:label + "Syntaxin11ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใ‚“ใŸใใ—ใ‚“11ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_23_046/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4155
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100132http://nanbyodata.jp/ontology/NANDO_2200727
+ skos:altLabel + "FHL type 4" + @en
+ skos:altLabel + "FHL4" + @en
+ skos:altLabel + "Familial hemophagocytic lymphohistiocytosis 4" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011336
+ skos:prefLabel + "Syntaxin11ๆฌ ๆ็—‡" + @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - + - - -
http://nanbyodata.jp/ontology/nando#2200365 +
http://nanbyodata.jp/ontology/NANDO_2200731 (rdf:type owl:Class @@ -116079,121 +173231,93 @@

hasNotificationNumber68
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏ๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450c18(P450aldใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹)ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒ้šœๅฎณใ‚’ใใŸใ—๏ผŒๅกฉๅ–ชๅคฑ็—‡็Šถใ‚’่ตทใ“ใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰corticosterone methyloxidase (CMO)Iๆฌ ๆ็—‡๏ผŒCMO IIๆฌ ๆ็—‡ใจใ—ใฆ่‡จๅบŠ็š„ใซๅŒบๅˆฅใ•ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฏ๏ผŒๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏใจใ‚‚ใซP450c18้บไผๅญใงใ‚ใ‚‹CYP11B2ใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใŸใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200365NANDO:2200731
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_23_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Aldosterone synthase deficiency" + "STXBP2/Munc18-2 deficiency" @en
rdfs:label - "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "STXBP2/Munc18-2ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ™ใฆใƒใƒผใˆใฃใใ™ใณใƒผใดใƒผ2/ใˆใ‚€ใ‚†ใƒผใˆใฌใ—ใƒผ18โˆ’2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00258http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7346
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_23_047/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100132
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020489http://nanbyodata.jp/ontology/NANDO_2200727
- skos:prefLabel + skos:altLabel - "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" - @ja
- - - - - - + "FHL type 5" + @en - + + "FHL5" + @en - - + + - - + + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200366 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber70
- dcterms:description + skos:altLabel - "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚" - @ja
- dcterms:identifier2200366 + skos:altLabel + "Familial hemophagocytic lymphohistiocytosis 5" + @en
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_23_048_01.pdf + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013135
- rdfs:label + skos:prefLabel - "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "STXBP2/Munc18-2ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_23_048/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100132
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200367 +
http://nanbyodata.jp/ontology/NANDO_2200732 (rdf:type owl:Class @@ -116201,60 +173325,72 @@

hasNotificationNumber7hasNotificationNumber44
dcterms:identifier2200367NANDO:2200732
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_24_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Pseudohypoaldosteronism" + "Griscelli syndrome type 2" @en
rdfs:label - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "Griscelli็—‡ๅ€™็พค2ๅž‹" @ja
+ rdfs:label + "ใใ‚Šใ›ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_24_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4620
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100133http://nanbyodata.jp/ontology/NANDO_2200727
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018638http://purl.obolibrary.org/obo/MONDO_0011872
skos:prefLabel - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡" + "Griscelli็—‡ๅ€™็พค2ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200368 +
http://nanbyodata.jp/ontology/NANDO_2200733 (rdf:type owl:Class @@ -116262,62 +173398,79 @@

hasNotificationNumber7
- dcterms:description - "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅ…ˆๅคฉ็š„ใช่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Naๅ†ๅธๅŽใจ๏ผซๆŽ’ๆณ„่ƒฝใฎไฝŽไธ‹ใฎใŸใ‚ๅกฉ้กžๅ–ชๅคฑ็—‡ๅ€™็พค salt-wasting syndromeใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200368NANDO:2200733
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_24_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Pseudohypoaldosteronism typeI" + "Hermansky-Pudlak syndrome type 2" @en
rdfs:label - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹" + "Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹" @ja
+ rdfs:label + "ใธใ‚‹ใพใ‚“ใ™ใใƒผใฑใฉใ‚‰ใฃใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_24_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4721
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200367http://nanbyodata.jp/ontology/NANDO_2200727
+ skos:altLabel + "HPS-2" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011997
skos:prefLabel - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹" + "Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + "ITK deficiency" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200369 +
http://nanbyodata.jp/ontology/NANDO_2200734 (rdf:type owl:Class @@ -116325,69 +173478,79 @@

hasNotificationNumber7
- dcterms:description - "่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒ้ซ˜ใ‚ฏใƒญใƒผใƒซ่ก€็—‡ๆ€งไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น ใ‚’ใใŸใ™ใŒ๏ผŒPHA Iใจ็•ฐใชใ‚Šๅกฉ้กžๅ–ชๅคฑ็—‡็Šถใฏใชใ๏ผŒๅพช็’ฐ่ก€ๆถฒ้‡ๅข—ๅคงใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Gordon็—‡ๅ€™็พคใจใ‚‚ใ„ใ†ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200369NANDO:2200734
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_24_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Pseudohypoaldosteronism typeII" + "IL-2-inducible T-cell kinase deficiency" @en
rdfs:label - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ…กๅž‹" + "ITKๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใฆใƒใƒผใ‘ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_24_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7308
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200367http://nanbyodata.jp/ontology/NANDO_2200727
skos:altLabel - "Gordon ็—‡ๅ€™็พค " - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013081
skos:prefLabel - "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ…กๅž‹" + "ITKๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200370 +
http://nanbyodata.jp/ontology/NANDO_2200735 (rdf:type owl:Class @@ -116395,67 +173558,74 @@

hasNotificationNumber61
- dcterms:description - "ๆœฌ็—‡ใฏใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎๅพ‹้€Ÿๆฎต้šŽใซใ‚ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ˆ ใ‚Šใƒ—ใƒฌใ‚ฐใƒใƒŽใƒญใƒณใƒ˜ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็งป้€่›‹็™ฝใงใ‚ใ‚‹Steroidogenic acute regualtory proteinใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ๅ‰ฏ่…ŽๅŠใณๆ€ง่…บใซใŠใ‘ใ‚‹ใปใจใ‚“ใฉใ™ในใฆใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒๅˆๆˆใงใใชใ„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใใฎใŸใ‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ใพใŸ46ใ€ XYใฎๅ€‹ไฝ“ใงใฏ็ฒพๅทฃใงใฎ็”ทๆ€งใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ้šœๅฎณใฎใŸใ‚ๅค–ๆ€งๅ™จใŒๅฅณๆ€งๅŒ–ใ™ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ๆฅตใ‚ใฆใพใ‚Œใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅด้Ž–ๅˆ‡ๆ–ญ้…ต็ด (P450scc๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200370NANDO:2200735
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_25_050_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Congenital lipoid adrenal hyperplasia" + "CD27 deficiency" @en
rdfs:label - "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + "CD27ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผใงใƒใƒผ27ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_050/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100134http://nanbyodata.jp/ontology/NANDO_2200727
+ skos:altLabel + "Combined immunodeficiency due to CD27 deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018479http://purl.obolibrary.org/obo/MONDO_0016536
skos:prefLabel - "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + "CD27ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + + "ใ—ใƒผใงใƒใƒผ25ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200371 +
http://nanbyodata.jp/ontology/NANDO_2200736 (rdf:type owl:Class @@ -116463,72 +173633,72 @@

hasNotificationNumber57
- dcterms:description - "ๆœฌ็—‡ใฏๅ‰ฏ่…Ž๏ผŒๆ€ง่…บใซใŠใ‘ใ‚‹3ฮฒโ€ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใŸใ‚๏ผŒๅ‰ฏ่…Žไธๅ…จๅŠใณๅค–ๆ€งๅ™จ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใฎๅฝขๅผใ‚’็คบใ™ใ€‚ๆœฌ็—‡ใซใฏๅคๅ…ธๅž‹ใฎใปใ‹้žๅคๅ…ธๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200371NANDO:2200736
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_25_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "3 beta-hydroxysteroid dehydrogenase deficiency" + "CD25ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Immunodeficiency 41 with lymphoproliferation and autoimmunity" @en
rdfs:label - "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1699http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6629
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_051/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100134http://nanbyodata.jp/ontology/NANDO_2200727
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008727http://purl.obolibrary.org/obo/MONDO_0011664
skos:prefLabel - "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "CD25ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200372 +
http://nanbyodata.jp/ontology/NANDO_2200737 (rdf:type owl:Class @@ -116536,72 +173706,74 @@

hasNotificationNumber56
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใงใ‚ใ‚Š๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cll๏ผˆ11ฮฒโ€ๆฐด้…ธๅŒ–้…ต็ด ๏ผ‰ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจ๏ผŒใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹็”ทๆ€งๅŒ–ใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200372NANDO:2200737
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_25_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "11 beta-hydroxylase deficiency" + "Growth hormone insensitivity with immunodeficiency" @en
rdfs:label - "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "STAT5bๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ™ใฆใƒใƒผใˆใƒผใฆใƒใƒผ5ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1701https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00931
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_052/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100134http://nanbyodata.jp/ontology/NANDO_2200727
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008729 + skos:altLabel + "STAT5b deficiency" + @en
skos:prefLabel - "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "STAT5bๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200373 +
http://nanbyodata.jp/ontology/NANDO_2200738 (rdf:type owl:Class @@ -116609,72 +173781,79 @@

hasNotificationNumber58
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏ๏ผŒๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใจใ—ใฆ๏ผŒ1966ๅนดBiglieri ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cl7ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจๆ€งใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆฌ ไนใซใ‚ˆใ‚‹ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200373NANDO:2200738
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_25_053_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "17 alpha-hydroxylase deficiency" + "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" @en
rdfs:label - "17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใ›ใ‚“ใ›ใ„ใชใ„ใถใ‚“ใดใคใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1702http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2401
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_053/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100134http://nanbyodata.jp/ontology/NANDO_2200727
+ skos:altLabel + "APECED" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008730http://purl.obolibrary.org/obo/MONDO_0009411
skos:prefLabel - "17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡" @ja
- - + - - - - - - + + - + - + + "ITCHๆฌ ๆ็—‡" + @ja + "Syndromic multisystem autoimmune disease due to Itch deficiency" + @en - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200374 +
http://nanbyodata.jp/ontology/NANDO_2200739 (rdf:type owl:Class @@ -116682,72 +173861,74 @@

hasNotificationNumber59
- dcterms:description - "ๆœฌ็—‡ใฏๅ‰ฏ่…ŽใซใŠใ„ใฆ17โ€ใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณ๏ผŒใ‚ใ‚‹ใ„ใฏใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณใ‹ใ‚‰ใใ‚Œใžใ‚Œ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚พใƒผใƒซ๏ผŒ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใƒณใฎๅˆๆˆใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹21ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆP450 c21๏ผ‰ใŒๆฌ ๆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ใฎๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใ‚’็คบใ—๏ผŒ่‡จๅบŠ็—‡็Šถใซๅคšๆง˜ๆ€งใŒใ‚ใ‚Š้‡็—‡ๅบฆใฎ้ †ใซๅกฉๅ–ชๅคฑๅž‹๏ผŒๅ˜็ด”็”ทๆ€งๅž‹๏ผŒๆ›ดใซ้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆ1989ๅนดใ‚ˆใ‚Šๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200374NANDO:2200739
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_25_054_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "21-hydroxylase deficiency" - @en
rdfs:label - "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1700 + rdfs:label + "ใ‚ใ„ใฆใƒใƒผใ—ใƒผใˆใ„ใกใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_054/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100134http://nanbyodata.jp/ontology/NANDO_2200727
+ skos:altLabel + "ITCH E3 ubiquitin ligase deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008728http://purl.obolibrary.org/obo/MONDO_0013245
skos:prefLabel - "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ITCHๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200375 +
http://nanbyodata.jp/ontology/NANDO_2200740 (rdf:type owl:Class @@ -116755,62 +173936,86 @@

hasNotificationNumber60
- dcterms:description - "P450 oxidoreductase(POR)ใฏ่†œ็ตๅˆๅž‹ flavoprotein ใงใ‚ใ‚Šใ€ใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ™ในใฆใฎP450้…ต็ด ็พคใซ้›ปๅญไผ้”ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹21-ๆฐด้…ธๅŒ–้…ต็ด ใจ17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ใฎ่ค‡ๅˆๆฌ ๆใ‚’ไผดใ†ใ€‚ใพใŸใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅˆๆˆใซใ‚‚P450ใŒ้–ขไธŽใ™ใ‚‹ใŸใ‚ใ€็ดฐ่ƒžๅ†…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€ๆง˜ใ€…ใช้ชจๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใ‚ˆใ‚Š้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ใชใฉใฎๅคš็™บๅฅ‡ๅฝขใ‚’ใจใ‚‚ใชใ†Antley-Bixler็—‡ๅ€™็พคใฎใชใ‹ใซใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎ็”ฃ็”Ÿ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏPORใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200375NANDO:2200740
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_25_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "P450 oxidoreductase deficiency" + "Caspase-8 deficiency" @en
rdfs:label - "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + "ใ‹ใ™ใบใƒผใ™8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_055/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4559
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100134http://nanbyodata.jp/ontology/NANDO_2200727
+ skos:altLabel + "ALPS2B" + @en
+ skos:altLabel + "autoimmune lymphoproliferative syndrome type 2B" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011804
skos:prefLabel - "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - - + + - -
http://nanbyodata.jp/ontology/nando#2200376 +
http://nanbyodata.jp/ontology/NANDO_2200741 (rdf:type owl:Class @@ -116818,97 +174023,86 @@

hasNotificationNumber62
- dcterms:description - "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200376NANDO:2200741
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_25_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡" + "FADDๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_25_056/ + rdfs:label + "Fas-associated death domain protein deficiency" + @en
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100134 + rdfs:label + "ใˆใตใˆใƒผใงใƒใƒผใงใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
- - - - - + + - - + + - - + + - - + + - + + "FADD-related immunodeficiency" + @en - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200377 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber37 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7671
- dcterms:description - "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
- dcterms:identifier2200377 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200727
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_26_057_01.pdf + skos:altLabel + "FADD deficiency" + @en
- rdfs:label + skos:altLabel - "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" - @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_26_057/ + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013408
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100135 + skos:prefLabel + "FADDๆฌ ๆ็—‡" + @ja
- - + - - - - - - + + - + - + + + + + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200378 +
http://nanbyodata.jp/ontology/NANDO_2200742 (rdf:type owl:Class @@ -116916,48 +174110,62 @@

hasNotificationNumber38
- dcterms:description - "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰2SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200378NANDO:2200742
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_26_058_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡" + "CARD11 gain-of-function mutations" + @en
+ rdfs:label + "CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ" @ja
+ rdfs:label + "ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ11ใใฎใ†ใ‹ใใจใใŒใŸใธใ‚“ใ„" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_26_058/https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100135http://nanbyodata.jp/ontology/NANDO_2200727
+ skos:prefLabel + "CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ" + @ja
- - + - - - - - - + + - + - + + + + + + + + + - + - - + + - -
http://nanbyodata.jp/ontology/nando#2200379 +
http://nanbyodata.jp/ontology/NANDO_2200743 (rdf:type owl:Class @@ -116965,97 +174173,100 @@

hasNotificationNumber3
- dcterms:description - "็”ทๆ€งใงใฏๅฅณๆ€งๅŒ–ไนณๆˆฟใ‚’ใใŸใ—ใ€ๅฅณๆ€งใงใฏๅทจๅคงไนณๆˆฟใ€ไธๆญฃๆ€งๅ™จๅ‡บ่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€่ก€ไธญใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณใฎ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200379NANDO:2200743
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_27_059_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡" + "PKC-ฮด deficiency" + @en
+ rdfs:label + "PRKCฮดๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใดใƒผใ‚ใƒผใ‚‹ใ‘ใƒผใ—ใƒผใงใ‚‹ใŸใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_27_059/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8550
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100136 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
- - - - - + + - + + "ALPS3" + @en - - + + - - + + - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200380 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber2 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200727
- dcterms:description + skos:altLabel - "ๅฅณๆ€งใซใŠใ„ใฆใ€็”ทๆ€งใƒ›ใƒซใƒขใƒณใฎ้Žๅ‰ฐใซใ‚ˆใ‚Š็”ทๆ€งๅŒ–ๅ…†ๅ€™ใ‚’็คบใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ก€ไธญใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใพใŸใ€็‰นใซใ‚ขใƒญใƒžใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไบŒๆฌกๆ€งๅพดใฎๆฌ ๅฆ‚ใจ้€ฒ่กŒๆ€งใฎ็”ทๆ€งๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚" - @ja
- dcterms:identifier2200380 + skos:altLabel + "CVID9" + @en
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_28_060_01.pdf + skos:altLabel + "PKC-delta deficiency" + @en
- rdfs:label + skos:altLabel - "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡" + "PKCฮดๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_28_060/ + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014253
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100137 + skos:prefLabel + "PRKCฮดๆฌ ๆ็—‡" + @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ™ใดใƒผใ„ใƒผใˆใฌใ—ใƒผใงใƒใƒผใ‚ใ„" + @ja-Hira - + + + + + - + + "SPENCDI" + @en - +
http://nanbyodata.jp/ontology/nando#2200381 +
http://nanbyodata.jp/ontology/NANDO_2200744 (rdf:type owl:Class @@ -117063,74 +174274,79 @@

hasNotificationNumber71
- dcterms:description - "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber44
dcterms:identifier2200381NANDO:2200744
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_29_061_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label - "Kallmann syndrome" + "SPENCDI" + @ja
+ rdfs:label + "Spondylo enchondro-dysplasiawith immune dysregulation" @en
rdfs:label - "ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_29_061/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4679
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100138http://nanbyodata.jp/ontology/NANDO_2200727
skos:altLabel - "Kallmann็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018800http://purl.obolibrary.org/obo/MONDO_0011939
skos:prefLabel - "ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค" + "SPENCDI" @ja
- - + - - + + - + - + + + + + + + + + - + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200382 +
http://nanbyodata.jp/ontology/NANDO_2200745 (rdf:type owl:Class @@ -117138,53 +174354,79 @@

hasNotificationNumber72hasNotificationNumber10
dcterms:description - "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" + "้ชจ้ซ„ใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใ€‚ไธญ่€ณ็‚Žใ€ๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่œ‚็ชฉ็น”็‚Žใ€็šฎ่†šๆ„ŸๆŸ“็—‡ใ‚’ๅๅพฉใ—ใ€ๆ™‚ใซๆ•—่ก€็—‡ใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่จบๆ–ญใฏ้ชจ้ซ„ๆคœๆŸปใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใงใ‚ใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใ€็—…ๅž‹ๅˆ†้กžใซใฏ้บไผๅญๅค‰็•ฐใฎๅŒๅฎšใŒๅฟ…่ฆใจใชใ‚‹ใ€‚STๅˆๅ‰คใฎไบˆ้˜ฒๆŠ•ไธŽใ‚„G-CSFใฎๆŠ•ไธŽใฏๆ„ŸๆŸ“้ ปๅบฆใฎๆธ›ๅฐ‘ใจๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใๆ”นๅ–„ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200382NANDO:2200745
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_29_062_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_035_01.pdf
rdfs:label - "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "Severe congenital neutropenia" + @en
+ rdfs:label + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00255http://nanbyodata.jp/ontology/NANDO_1200353
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_29_062/https://www.shouman.jp/disease/details/10_05_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100138http://nanbyodata.jp/ontology/NANDO_2100207
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018542
+ skos:prefLabel + "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200383 +
http://nanbyodata.jp/ontology/NANDO_2200746 (rdf:type owl:Class @@ -117192,67 +174434,84 @@

hasNotificationNumber20hasNotificationNumber9
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" + "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใผๅ…จไพ‹ใงๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ๏ผˆELANE๏ผ‰้บไผๅญใซๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚14๏ฝž35ๆ—ฅๅ‘จๆœŸ๏ผˆๅคšใใฏ21ๆ—ฅๅ‘จๆœŸ๏ผ‰ใงๅฅฝไธญ็ƒใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ้š›ใ€ๆ„ŸๆŸ“็—‡ใซ็ฝนๆ‚ฃใ™ใ‚‹ใŒ3ใ€œ5ๆ—ฅใงๅ›žๅพฉใ™ใ‚‹ใ€‚้€šๅธธใฏๅนด้ฝขใจๅ…ฑใซ่‡ช็„ถ่ปฝๅฟซใ™ใ‚‹่‰ฏๆ€ง็–พๆ‚ฃใงใ€ๆฒป็™‚ใจใ—ใฆใฏSTๅˆๅ‰คใซใ‚ˆใ‚‹ๆ„ŸๆŸ“ไบˆ้˜ฒใ‚„ๅฃ่…”ใ‚ฑใ‚ข็ญ‰ใฎๆ”ฏๆŒ็™‚ๆณ•ใŒใใฎไธปไฝ“ใจใชใ‚‹ใ€‚" @ja
dcterms:identifier2200383NANDO:2200746
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_30_063_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_036_01.pdf
rdfs:label - "Testicular dysgenesis" + "Cyclic neutropenia" @en
rdfs:label - "็ฒพๅทฃๅฝขๆˆไธๅ…จ" + "ใ—ใ‚…ใ†ใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_30_063/http://nanbyodata.jp/ontology/NANDO_1200354
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1079
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100139http://nanbyodata.jp/ontology/NANDO_2100207
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005437http://purl.obolibrary.org/obo/MONDO_0008090
skos:prefLabel - "็ฒพๅทฃๅฝขๆˆไธๅ…จ" + "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
- - + - - - - - - + + - + - + + "35ใŠใ‚ˆใณ36ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใฎใ‘ใ„ใ‹ใ‚’ใŸใฉใ‚‹ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200384 +
http://nanbyodata.jp/ontology/NANDO_2200747 (rdf:type owl:Class @@ -117260,72 +174519,62 @@

hasNotificationNumber21
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๅตๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber11
dcterms:identifier2200384NANDO:2200747
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_30_064_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "Ovarian dysgenesis" - @en
rdfs:label - "ๅตๅทฃๅฝขๆˆไธๅ…จ" + "35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00599 + rdfs:label + "Other congenital defects of neutrophil function" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_30_064/https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100139
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009299http://nanbyodata.jp/ontology/NANDO_2100207
skos:prefLabel - "ๅตๅทฃๅฝขๆˆไธๅ…จ" + "35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
- - + - - + + - + - + + "autoimmune neutropenia" + @en + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200385 +
http://nanbyodata.jp/ontology/NANDO_2200748 (rdf:type owl:Class @@ -117333,62 +174582,76 @@

hasNotificationNumber22hasNotificationNumber11
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใ‚„ๅตๅทฃ่‡ชไฝ“ใŒๅŽŸๅ› ใงๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใƒปไธ‹ๅž‚ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซ็ฒพๅทฃใ‚„ๅตๅทฃใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็ฒพๅทฃใ‚„ๅตๅทฃใฎ็™บ็”Ÿใ€ๅˆ†ๅŒ–ใฎ้Ž็จ‹ใซๆ˜Žใ‚‰ใ‹ใช้šœๅฎณใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใฏ้™คๅค–ใ™ใ‚‹๏ผˆ็ฒพๅทฃๅฝขๆˆไธๅ…จใ€ๅตๅทฃๅฝขๆˆไธๅ…จใฎใƒšใƒผใ‚ธๅ‚็…ง๏ผ‰ใ€‚" + "ๆœซๆขข่ก€ๅฅฝไธญ็ƒ็ตถๅฏพๆ•ฐใŒ500/ฮผLไปฅไธ‹ใŒ2๏ฝž3ใ‹ๆœˆๆŒ็ถšใ—ใ€่‡จๅบŠ็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€ๅคšใใฏไนณๅ…ๆœŸๅพŒๅŠใ‹ใ‚‰ๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆธ…ไธญใฎๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฏ้™ฝๆ€งใงใ‚ใ‚‹ใŒใ€ๆคœๆŸปๆณ•ใฎๆ„Ÿๅบฆใซใ‚ˆใฃใฆใฏ้™ฐๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็—‡ไพ‹ใงใ€ๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฎ่‡ช็„ถๆถˆๅคฑใซไผดใ„ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใฏ่ปฝๅฟซใ™ใ‚‹่‰ฏๅฅฝใช่‡จๅบŠ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200385NANDO:2200748
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_30_065_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" - @ja
rdfs:label - "Hypergonadotropic hypogonadism of other etiologies" - @en
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_30_065/https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100139http://nanbyodata.jp/ontology/NANDO_2200747
+ skos:altLabel + "AIN" + @en
skos:prefLabel - "63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡" + "่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200386 +
http://nanbyodata.jp/ontology/NANDO_2200749 (rdf:type owl:Class @@ -117396,60 +174659,86 @@

hasNotificationNumber22hasNotificationNumber11
+ dcterms:description + "C16ORF57ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅคšๅฝข็šฎ่†š่Ž็ธฎใ€็ˆช่‚ฅๅŽš็—‡ใ€ๆŽŒ่น ่ง’ๅŒ–็—‡ใ€ไฝŽ่บซ้•ทใ€้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ—ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎๅˆไฝตใ‚‚ใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" + @ja
dcterms:identifier2200386NANDO:2200749
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_30_065_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "Klinefelterย syndrome" + "Clericuzio-type poikiloderma with neutropenia syndrome" @en
rdfs:label - "Klinefelter็—‡ๅ€™็พค" + "ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใใ‚Œใ‚Šใฃใใ˜ใŠใŒใŸใŸใ‘ใ„ใฒใตใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_30_065/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4213
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200385http://nanbyodata.jp/ontology/NANDO_2200747
+ skos:altLabel + "PN" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006823http://purl.obolibrary.org/obo/MONDO_0011405
skos:prefLabel - "Klinefelter็—‡ๅ€™็พค" + "ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡" @ja
- - + - - + + - + - + + + + + + "ใ“ใƒผใˆใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200387 +
http://nanbyodata.jp/ontology/NANDO_2200750 (rdf:type owl:Class @@ -117457,77 +174746,84 @@

hasNotificationNumber53hasNotificationNumber11
dcterms:description - "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆovotesticular DSDใ€ไปฅๅ‰ใฎๅ‘ผ็งฐใงใฏ็œŸๆ€งๅŠ้™ฐ้™ฝ๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ๅ†…ใซๅตๅทฃ็ต„็น”ใจ็ฒพๅทฃ็ต„็น”ใŒๅŒๅดใ‚ใ‚‹ใ„ใฏๅฏพๅดใซๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็•ฐใชใ‚‹ๆ€ง่…บใฎ็ต„ใฟๅˆใ‚ใ›ใฏๅคšๆง˜ใงใ€ไธ€ๅดใŒ็ฒพๅทฃใงๅฏพๅดใŒๅตๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ20๏ผ…ใ€ไธ€ๅดใŒ็ฒพๅทฃใพใŸใฏๅตๅทฃใงๅฏพๅดใŒๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„50๏ผ…ใ€ไธกๅดใจใ‚‚ใซๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„30๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)ใ€‚ๆ ธๅž‹ใฏใ€ไบบ็จฎใซใ‚ˆใฃใฆๅทฎใ‚’่ชใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹125ไพ‹ใงใฎๆคœ่จŽใงใฏใ€46,XXใŒ61.6๏ผ…ใ€46,XYใŒ12.8๏ผ…ใ€46,XX/46,XYใŒ14.4๏ผ…ใงใ‚ใฃใŸใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚" + "COH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€็ถฒ่†œ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200387NANDO:2200750
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_066_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "Ovotesticular dsd" + "Cohen็—‡ๅ€™็พค" + @ja
+ rdfs:label + "cohen syndrome" @en
rdfs:label - "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7292http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1975
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_066/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00940
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100140 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010766 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200747
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016281http://purl.obolibrary.org/obo/MONDO_0008999
skos:prefLabel - "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + "Cohen็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200388 +
http://nanbyodata.jp/ontology/NANDO_2200751 (rdf:type owl:Class @@ -117535,72 +174831,84 @@

hasNotificationNumber51hasNotificationNumber11
dcterms:description - "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡๏ผˆmixed gonadal dysgenesis๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ใซใŠใ„ใฆ็ฒพๅทฃๆˆๅˆ†ใจ็ดข็Šถๆ€ง็ทšใŒๅ…ฑๅญ˜ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ใใ‚Œใซ้–ข้€ฃใ™ใ‚‹ๅ†…ๅค–ๆ€งๅ™จใฎๅˆ†ๅŒ–็•ฐๅธธใŒใฟใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹1)ใ€‚ไปฃ่กจ็š„ใชๆ ธๅž‹ใฏใ€45,X/46,XYใฎใƒขใ‚ถใ‚คใ‚ฏใงใ‚ใ‚‹ใŒใ€45,X/47,XYYใ‚„45,X/46,XY/47,XYYใฎๆ ธๅž‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "Tafazzin๏ผˆTAZ๏ผ‰ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅฟƒ็ญ‹็—‡ใ€ๆˆ้•ท้…ๆปžใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200388NANDO:2200751
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_067_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "Mixed gonadal dysgenesis" + "Barth syndrome" @en
rdfs:label - "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡" + "Barth็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใฐใƒผใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_067/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3355
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100140 + rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00654
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001969 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200747
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015779http://purl.obolibrary.org/obo/MONDO_0010543
skos:prefLabel - "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡" + "Barth็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200389 +
http://nanbyodata.jp/ontology/NANDO_2200752 (rdf:type owl:Class @@ -117608,72 +174916,84 @@

hasNotificationNumber49hasNotificationNumber11
dcterms:description - "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚" + "ใ‚จใƒณใƒ‰ใ‚ฝใƒผใƒ ใ‚ขใƒ€ใƒ—ใ‚ฟใƒผ่›‹็™ฝใงใ‚ใ‚‹p14ใฎๆฌ ๆใซใ‚ˆใ‚Š้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€CD8T็ดฐ่ƒžใฎ็ดฐ่ƒž้šœๅฎณๆ€งไฝŽไธ‹ใ€้™ๅฑ€ๆ€งใฎ็™ฝ็šฎ็—‡ใ€ๆˆ้•ท้šœๅฎณใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200389NANDO:2200752
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_068_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "5 alpha-reductase deficiency" + "P14 deficiency" @en
rdfs:label - "5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + "P14ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใดใƒผ14ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2910http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6854
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_068/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01218
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100140http://nanbyodata.jp/ontology/NANDO_2200747
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009923http://purl.obolibrary.org/obo/MONDO_0012559
skos:prefLabel - "5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡" + "P14ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200390 +
http://nanbyodata.jp/ontology/NANDO_2200753 (rdf:type owl:Class @@ -117681,62 +175001,79 @@

hasNotificationNumber48hasNotificationNumber11
dcterms:description - "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚" + "Wiskot-Aldrich็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใงใ‚ใ‚‹WASใฎๆ’ๅธธๆดปๆ€งๅŒ–ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใจใจใ‚‚ใซๅ˜็ƒๆธ›ๅฐ‘ใ‚„้ชจ้ซ„็•ฐๅฝขๆˆใ‚’ไผดใ†ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200390NANDO:2200753
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_069_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "17 beta-hydroxysteroid dehydrogenase deficiency" + "X linked severe congenital neutropenia" @en
rdfs:label - "17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_069/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3284
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100140http://nanbyodata.jp/ontology/NANDO_2200747
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010294
skos:prefLabel - "17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200391 +
http://nanbyodata.jp/ontology/NANDO_2200754 (rdf:type owl:Class @@ -117744,77 +175081,84 @@

hasNotificationNumber47hasNotificationNumber11
dcterms:description - "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎไฝœ็”จ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚" + "ใ‚ฐใƒซใ‚ณใƒผใ‚น6ใƒชใƒณ้…ธใƒˆใƒฉใƒณใ‚นใ‚ซใƒญใƒฉใƒผใ‚ผ๏ผˆG6PT1๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ไปฃ่ฌๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€ไฝŽ่ก€็ณ–ใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’ๆฅใ™ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200391NANDO:2200754
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_070_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label - "Androgen insensitivity syndrome" + "Glycogen storage disease type 1b" @en
rdfs:label - "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…Ibๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3229http://nanbyodata.jp/ontology/NANDO_2201154
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02177http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2275
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_070/https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100140http://nanbyodata.jp/ontology/NANDO_2200747
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019154http://purl.obolibrary.org/obo/MONDO_0009288
skos:prefLabel - "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡" + "็ณ–ๅŽŸ็—…Ibๅž‹" @ja
- - + - - + + - + - + + "Leukocyte adhesion deficiency" + @en + "ใฏใฃใ‘ใฃใใ‚…ใ†ใ›ใฃใกใ‚ƒใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200392 +
http://nanbyodata.jp/ontology/NANDO_2200755 (rdf:type owl:Class @@ -117822,62 +175166,86 @@

hasNotificationNumber50hasNotificationNumber13
dcterms:description - "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XYใฎใ‚‚ใฎใฎไธญใงใ€5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใ€17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡๏ผˆใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡๏ผ‰ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚" + "็™ฝ่ก€็ƒใซใŠใ‘ใ‚‹ๆŽฅ็€ๅˆ†ๅญใงใ‚ใ‚‹๏ข2ใ‚คใƒณใƒ†ใ‚ฐใƒชใƒณใ‚„ใ‚ปใƒฌใ‚ฏใƒใƒณใƒชใ‚ฌใƒณใƒ‰ใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใ€‚ๆŽฅ็€ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๆ„ŸๆŸ“้ƒจไฝใธใฎ็™ฝ่ก€็ƒๆตธๆฝคใŒไธ่ƒฝใจใชใ‚Šใ€ๆ„ŸๆŸ“็—‡ใŒ้ทๅปถใ™ใ‚‹ใ€‚็ดฐ่Œใ€็œŸ่Œใซใ‚ˆใ‚‹้›ฃๆฒปๆ€ง็šฎ่†š็‚Žใ€ไธญ่€ณ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏ่ปฝๅบฆใ‹ใ‚‰ไธญ็จ‹ๅบฆใงใ‚ใ‚ŒใฐๆŠ—่Œๅ‰ค็ญ‰ใฎๅฏพๅ‡ฆ็™‚ๆณ•ใ‚’่กŒใ†ใŒใ€้‡็—‡ใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚" @ja
dcterms:identifier2200392NANDO:2200755
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_071_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_038_01.pdf
rdfs:label - "68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" - @ja
rdfs:label - "Other disorders of sex development of 46,XY" - @en
+ rdfs:label + "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_071/http://nanbyodata.jp/ontology/NANDO_1200355
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100140http://nanbyodata.jp/ontology/NANDO_2100207
+ skos:altLabel + "LAD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017570
skos:prefLabel - "68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + + + + + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200393 +
http://nanbyodata.jp/ontology/NANDO_2200756 (rdf:type owl:Class @@ -117885,48 +175253,93 @@

hasNotificationNumber52hasNotificationNumber12
dcterms:description - "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XXใฎใ‚‚ใฎใ€‚" + "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค๏ผˆShwachman-Diamond syndrome: SDS๏ผ‰ใฏ่†ตๅค–ๅˆ†ๆณŒใฎ็•ฐๅธธใจ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจๆ ผ็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒชใƒœใ‚ฝใƒผใƒ ็”Ÿๆˆใซ้–ขไธŽใ™ใ‚‹SBDS่›‹็™ฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใฏ่†ต้…ต็ด ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใฎ่ฃœๅ……ใ€่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใซๅฏพใ—ใฆใฏ่ผธ่ก€ใ€้‡็—‡ไพ‹ใงใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200393NANDO:2200756
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_31_072_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_039_01.pdf
rdfs:label - "46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ" + "Shwachman-Diamond syndrome" + @en
+ rdfs:label + "ใ—ใ‚…ใ‚ใฃใฏใพใ‚“ใƒปใ ใ„ใ‚ใ‚‚ใ‚“ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_31_072/http://nanbyodata.jp/ontology/NANDO_1200356
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100140http://nanbyodata.jp/ontology/NANDO_2100207
+ skos:altLabel + "SDS" + @en
+ skos:altLabel + "Shwachman-Diamond็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009833
+ skos:prefLabel + "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" + @ja
- - + - - + + - + - + + "Chronic granulomatous disease" + @en + "ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200394 +
http://nanbyodata.jp/ontology/NANDO_2200757 (rdf:type owl:Class @@ -117934,67 +175347,86 @@

hasNotificationNumber42hasNotificationNumber14
dcterms:description - "่…ซ็˜ใ‹ใ‚‰ใฎVIPๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" + "้ฃŸ็ดฐ่ƒžใฎๆฎบ่Œ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็ดฐ่Œใ‚„็œŸ่Œใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚ใพใŸใ€ๅ…็–ซๅฟœ็ญ”ใฎๅˆถๅพก็•ฐๅธธใ‚’่ชใ‚ใ€้Žๅ‰ฐใช็‚Ž็—‡ๅๅฟœใŒ้ทๅปถใ—่‚‰่Šฝ่…ซๅฝขๆˆใ‚„่‚‰่Šฝ่…ซๆ€ง่…ธ็‚Žใ‚’ใใŸใ™ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰คๆŠ•ไธŽใชใฉใŒไธปไฝ“ใจใชใ‚‹ใŒใ€้‡ๅบฆใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200394NANDO:2200757
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_32_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf
rdfs:label - "VIP็”ฃ็”Ÿ่…ซ็˜" - @ja
rdfs:label - "Vipoma" - @en
+ rdfs:label + "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_32_073/http://nanbyodata.jp/ontology/NANDO_1200357
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100141http://nanbyodata.jp/ontology/NANDO_2100207
+ skos:altLabel + "CGD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019960http://purl.obolibrary.org/obo/MONDO_0018305
skos:prefLabel - "VIP็”ฃ็”Ÿ่…ซ็˜" + "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200395 +
http://nanbyodata.jp/ontology/NANDO_2200758 (rdf:type owl:Class @@ -118002,72 +175434,84 @@

hasNotificationNumber40hasNotificationNumber15
dcterms:description - "่†ตใ€ๅไบŒๆŒ‡่…ธใซ็™บ็”Ÿใ™ใ‚‹ใ‚ฌใ‚นใƒˆใƒชใƒณ็”ฃ็”Ÿ่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฌใ‚นใƒˆใƒชใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" + "ๅฅฝไธญ็ƒใฎใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆMPO๏ผ‰ใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏ่ปฝๅบฆใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๅ†…ๆฎบ่Œไฝœ็”จใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ—ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200395NANDO:2200758
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_32_074_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_041_01.pdf
rdfs:label - "Gastrinoma" + "Myeloperoxidase deficiency" @en
rdfs:label - "ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž" + "ใฟใˆใ‚ใบใ‚‹ใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_32_074/http://nanbyodata.jp/ontology/NANDO_1200358
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100141 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2680
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003523 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_041/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100207
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019610http://purl.obolibrary.org/obo/MONDO_0009694
skos:prefLabel - "ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž" + "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200396 +
http://nanbyodata.jp/ontology/NANDO_2200759 (rdf:type owl:Class @@ -118075,72 +175519,86 @@

hasNotificationNumber41hasNotificationNumber16
dcterms:description - "่…ซ็˜ใซใ‚ˆใ‚‹ๆดปๆ€งใ‚ขใƒŸใƒณ(ใ‚ปใƒญใƒˆใƒ‹ใƒณใ€ใƒ’ใ‚นใ‚ฟใƒŸใƒณ)ใ€ใ‚ฟใ‚ญใ‚ญใƒ‹ใƒณใ€ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณใชใฉ ใฎๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" + "BCGใ‚„้žๅฎšๅž‹ๆŠ—้…ธ่Œใชใฉๅผฑๆฏ’ๆŠ—้…ธ่Œใซๅฏพใ—ใฆ้ธๆŠž็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ—ใ€็ตๆ ธ่Œใ‚„ใ‚ตใƒซใƒขใƒใƒฉใชใฉใฎ็ดฐ่ƒžๅ†…ๅฏ„็”Ÿ่Œใซๅฏพใ—ใฆ้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’ใใŸใ™ใ€‚ใ“ใฎใŸใ‚ใ€ไป–ใฎ็ดฐ่Œใ‚„็œŸ่Œใ€ใ‚ฆใ‚คใƒซใ‚นใชใฉใซๅฏพใ—ใฆใฏๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ•ใชใ„ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰ค๏ผˆๆŠ—็ตๆ ธ็ด„๏ผ‰็ญ‰ใฎๅ†…็ง‘็š„ๆฒป็™‚ใŒไธปไฝ“ใจใชใ‚‹ใ€‚" @ja
dcterms:identifier2200396NANDO:2200759
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_32_075_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_042_01.pdf
rdfs:label - "Carcinoid syndrome" + "Mendelian susceptibility to mycobacterial disease" @en
rdfs:label - "ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค" + "ใ‚ใ‚“ใงใ‚‹ใ„ใงใ‚“ใŒใŸใพใ„ใ“ใฐใใฆใ‚Šใ‚ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_32_075/http://nanbyodata.jp/ontology/NANDO_1200359
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100141http://nanbyodata.jp/ontology/NANDO_2100207
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005369 + skos:altLabel + "MSMD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006689http://purl.obolibrary.org/obo/MONDO_0019146
skos:prefLabel - "ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค" + "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" @ja
- - + - - + + - + - + + "38ใ‹ใ‚‰42ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฏใฃใ‘ใฃใใ‚…ใ†ใใฎใ†ใ„ใ˜ใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200397 +
http://nanbyodata.jp/ontology/NANDO_2200760 (rdf:type owl:Class @@ -118148,67 +175606,69 @@

hasNotificationNumber15hasNotificationNumber17
dcterms:description - "ไธปใซ่†ตใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฐใƒซใ‚ซใ‚ดใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚" + "CGDใ€MPOๆฌ ๆ็—‡ใ€MSMDไปฅๅค–ใซใ‚‚็™ฝ่ก€็ƒใฎๆฉŸ่ƒฝ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200397NANDO:2200760
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_33_076_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_043_01.pdf
rdfs:label - "Glucagonoma" - @en
rdfs:label - "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" + "38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ" @ja
+ rdfs:label + "Other congenital defects of phagocyte function" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_33_076/https://www.shouman.jp/disease/details/10_05_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100142
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019959http://nanbyodata.jp/ontology/NANDO_2100207
skos:prefLabel - "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž" + "38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200398 +
http://nanbyodata.jp/ontology/NANDO_2200761 (rdf:type owl:Class @@ -118216,67 +175676,86 @@

hasNotificationNumber17hasNotificationNumber24
dcterms:description - "่†ตฮฒ็ดฐ่ƒž็”ฑๆฅใฎใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒๆ€ง่…บ่…ซใ€‚" + "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ๏ผˆๆญฏ็‰™ๆฌ ๆ๏ผ่Œๅ‡บไธๅ…จใƒปๅ††้Œ็Šถๆญฏใ€็™บๆฑ—ไฝŽไธ‹ใ‚„็„กๆฑ—็—‡ใ€็ฒ—ใช้ ญ้ซชใ‚„็œ‰ๆฏ›๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใ‚„ๅคง็†็Ÿณ้ชจ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Š่‡จๅบŠๅƒใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚NF-ฮบBใ‚ทใ‚ฐใƒŠใƒซไผ้”้šœๅฎณใŒๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉใŒNEMO้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใŒใ€IฮบBฮฑ้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ช็„ถๅ…็–ซใ€็ดฐ่ƒžๆ€งๅ…็–ซใ€ๆถฒๆ€งๅ…็–ซใฎใ„ใšใ‚Œใซใ‚‚็จฎใ€…ใฎ็จ‹ๅบฆใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ใ„ใ‚ใ„ใ‚ใช็—…ๅŽŸไฝ“ใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ใƒ˜ใƒซใƒšใ‚นๅฑžใ‚ฆใ‚คใƒซใ‚นใ‚„ๆŠ—้…ธ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ‹ใƒฅใƒผใƒขใ‚ทใ‚นใƒ†ใ‚ฃใ‚น่‚บ็‚Ž็ญ‰ใงใฏ้‡็—‡ๅŒ–ใ—ใ‚„ใ™ใใ€ๆญปไบกใ™ใ‚‹ๅ ดๅˆใ‚‚ๅฐ‘ใชใใชใ„ใ€‚็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใฎๅˆไฝต้ ปๅบฆใŒ้ซ˜ใใ€้›ฃๆฒปๆ€งใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200398NANDO:2200761
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_34_077_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_044_01.pdf
rdfs:label - "Insulinoma" + "Anhidrotic ectodermal dysplasia with immunodeficiency" @en
rdfs:label - "ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž" + "ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_34_077/http://nanbyodata.jp/ontology/NANDO_1200360
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100143http://nanbyodata.jp/ontology/NANDO_2100208
+ skos:altLabel + "EDA-ID" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024677http://purl.obolibrary.org/obo/MONDO_0010293
skos:prefLabel - "ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž" + "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200399 +
http://nanbyodata.jp/ontology/NANDO_2200762 (rdf:type owl:Class @@ -118284,62 +175763,84 @@

hasNotificationNumber18hasNotificationNumber21
dcterms:description - "ๅ…ˆๅคฉๆ€งใซ่†ตฮฒ็ดฐ่ƒžใฎไธ€้ƒจใพใŸใฏๅ…จ้ƒจใ‹ใ‚‰ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ใใŸใ—ใ€้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "็ฒๅพ—ๅ…็–ซใŒๆœช็†Ÿใงใ‚ใ‚‹ไนณๅนผๅ…ๆœŸใซใ€่‚บ็‚Ž็ƒ่Œใชใฉใซใ‚ˆใ‚‹invasive bacterial infection๏ผˆไพต่ฅฒๆ€งๆ„ŸๆŸ“็—‡๏ผ‰ใ‚’่ตทใ“ใ—ใ‚„ใ™ใใ€ๆญปไบก็Ž‡ใŒ้ซ˜ใ„ใ€‚ไนณๅนผๅ…ๆœŸใฎๆ„ŸๆŸ“็—‡ๅฏพ็ญ–ใŒๆฅตใ‚ใฆ้‡่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200399NANDO:2200762
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_34_078_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_045_01.pdf
rdfs:label - "Congenital hyperinsulinaemia" + "IRAK4 deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡" + "IRAK4ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใ„ใ‚‰ใฃใ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_34_078/http://nanbyodata.jp/ontology/NANDO_1200361
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4636
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100143http://nanbyodata.jp/ontology/NANDO_2100208
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011888
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡" + "IRAK4ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใฟใฃใฉ88 / ใพใ„ใงใƒใƒผ88ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200400 +
http://nanbyodata.jp/ontology/NANDO_2200763 (rdf:type owl:Class @@ -118347,62 +175848,84 @@

hasNotificationNumber19hasNotificationNumber23
dcterms:description - "ใ‚คใƒณใ‚นใƒชใƒณใฎ้Žๅ‰ฐใซใ‚ˆใฃใฆ้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใฎใ†ใกใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒžใ€ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใ€‚" + "IRAK4ๆฌ ๆ็—‡ใฎ้ …ใ‚’ๅ‚็…งใ€‚่‡จๅบŠๅƒใงใฏIRAK4ๆฌ ๆ็—‡ใจๅŒบๅˆฅใงใใชใ„ใ€‚" @ja
dcterms:identifier2200400NANDO:2200763
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_34_079_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_046_01.pdf
rdfs:label - "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" + "MyD88 deficiency" + @en
+ rdfs:label + "MyD88ๆฌ ๆ็—‡" @ja
rdfs:label - "Other hyperinsulinaemic hypoglycaemia" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_34_079/http://nanbyodata.jp/ontology/NANDO_1200362
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7095
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_046/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100143http://nanbyodata.jp/ontology/NANDO_2100208
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012839
skos:prefLabel - "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡" + "MyD88ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200401 +
http://nanbyodata.jp/ontology/NANDO_2200764 (rdf:type owl:Class @@ -118410,77 +175933,86 @@

hasNotificationNumber76hasNotificationNumber22
dcterms:description - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…ใฏใ€้บไผๆ€งใซใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ใใŸใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‚ซๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ไฝๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD 1ฮฑไฝๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ(CYP27B1)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡Iๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR I๏ผ‰ใจ๏ผŒใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ(VDR)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡IIๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type II๏ผšVDDR II๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + "็šฎ่†šใ€็ˆชใ€็ฒ˜่†œใชใฉใฎๅ†็™บๆ€งใ€้›ฃๆฒปๆ€งใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚้€šๅธธใฏๆ…ขๆ€งใซๆŒ็ถšใ™ใ‚‹่กจๅœจๆ€งใฎ็œŸ่Œๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚้บไผๆ€งใฎใ‚‚ใฎใซใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200401NANDO:2200764
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_35_080_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_047_01.pdf
rdfs:label - "Vitamin d-dependent rickets" + "Chronic mucocutaneous candidiasis" @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" + "ใพใ‚“ใ›ใ„ใฒใตใญใ‚“ใพใใ‹ใ‚“ใ˜ใ ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01143http://nanbyodata.jp/ontology/NANDO_1200363
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_35_080/https://www.shouman.jp/disease/details/10_06_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100144http://nanbyodata.jp/ontology/NANDO_2100208
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005520 + skos:altLabel + "CMC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024299http://purl.obolibrary.org/obo/MONDO_0015279
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…" + "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" @ja
- - + - - - - - - + + - + - + + "44ใ‹ใ‚‰47ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใœใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200402 +
http://nanbyodata.jp/ontology/NANDO_2200765 (rdf:type owl:Class @@ -118488,62 +176020,62 @@

hasNotificationNumber77
- dcterms:description - "ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใฎ้€šๅธธ้‡ใงๆฒป็™’ใงใใชใ„้ชจ่ปŸๅŒ–็—‡ใฎ็ท็งฐใจใ—ใฆใ€ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ใจใ„ใ†็—…ๅใŒไฝฟ็”จใ•ใ‚Œใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€็นŠ็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23 (fibroblast growth factor 23: FGF23) ้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ†้บไผๆ€งไฝŽใƒชใƒณ่ก€ๆ€งใใ‚‹็—…ใ€่…ซ็˜ๆ€ง้ชจ่ปŸๅŒ–็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚้€šๅธธใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹๏ผˆใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใฎ้ …ๅ‚็…ง๏ผ‰ใ€‚็”ŸๅพŒใ€ๆ•ฐๅนดไปฅๅ†…ใซใใ‚‹็—…ใฎๅฝขใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„๏ผˆใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผ‰ใ€‚" - @jahasNotificationNumber25
dcterms:identifier2200402NANDO:2200765
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_36_081_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Vitamin d resistant osteomalacia" - @en
rdfs:label - "ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + "44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ" @ja
+ rdfs:label + "Other defects in innate immunity" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_36_081/https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100145http://nanbyodata.jp/ontology/NANDO_2100208
skos:prefLabel - "ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡" + "44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200403 +
http://nanbyodata.jp/ontology/NANDO_2200766 (rdf:type owl:Class @@ -118551,62 +176083,79 @@

hasNotificationNumber16hasNotificationNumber25
dcterms:description - "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใฏใ€่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใƒชใƒณๅ†ๅธๅŽใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅฐฟใƒชใƒณๆŽ’ๆณ„ใŒๅข—ๅŠ ใ—ใ€่ก€ๆธ…ใƒชใƒณๆฟƒๅบฆใŒไฝŽไธ‹ใ™ใ‚‹ไบ‹ใซใ‚ˆใ‚Šใใ‚‹็—…ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจ้ž้บไผๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅ‰่€…ใฏใ•ใ‚‰ใซใ€้บไผๅฝขๅผใŠใ‚ˆใณ็—‡็Šถใซใ‚ˆใ‚Šๆ•ฐ็จฎ้กžใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใ€็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23๏ผˆFGF23: Fibroblast growth factor 23๏ผ‰ใŒใƒชใƒณๅˆฉๅฐฟใ‚’ๆƒน่ตทใ™ใ‚‹ไธปๅ› ๅญใจใ—ใฆๅŒๅฎšใ•ใ‚Œใ€FGF23ใฎไธŠๆ˜‡ใซๅฏ„ใ‚‹ใใ‚‹็—…ใ‚’FGF23้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใจใ‚‚ๅ‘ผใถใ€‚้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ‚ใชใ„ไฝŽใƒชใƒณ่ก€็—‡ใฏๅพŒๅคฉๆ€งใซใ‚‚ใŠใ“ใ‚Šใ€่…ซ็˜ใซไผดใ†ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ๅข—ๅŠ ใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹ๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใชใฉใงใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200403NANDO:2200766
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_37_082_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Primary hypophosphataemic rickets" + "HOIL-1 deficiency" @en
rdfs:label - "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" + "HOIL1ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ„ใกใŠใƒผใ‚ใ„ใˆใ‚‹1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_37_082/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8694
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100146http://nanbyodata.jp/ontology/NANDO_2200765
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014389
skos:prefLabel - "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…" + "HOIL1ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "Warts, hypogammaglobulinemia, infections, and myelokathexis" + @en - +
http://nanbyodata.jp/ontology/nando#2200404 +
http://nanbyodata.jp/ontology/NANDO_2200767 (rdf:type owl:Class @@ -118614,74 +176163,86 @@

hasNotificationNumber39hasNotificationNumber25
dcterms:description - "ๆ „้คŠ็Šถๆ…‹ใซ้–ขใ‚ใ‚‰ใšใ€่„‚่‚ช็ต„็น”ใŒๅ…จ่บซๆ€งใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆธ›ๅฐ‘ใƒปๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใ€‚ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€่„‚่ณช็•ฐๅธธใ‚’ใใŸใ—ใฆ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Ž็ธฎใฎๅˆ†ๅธƒใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใซใ‚ˆใ‚Šไธ‹่จ˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ใ€€ๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(1) ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆBerardinelli-Seip ็—‡ๅ€™็พค๏ผ‰(2) ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆLawrence ็—‡ๅ€™็พค๏ผ‰ใ€€๏ผ’ใ€€้ƒจๅˆ†็š„่„‚่‚ช่Ž็ธฎ็—‡(3) ๅ…ˆๅคฉๆ€ง๏ผˆๅฎถๆ—ๆ€ง๏ผ‰้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(4) ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡" + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚CXC chemokine receptor 4๏ผˆCRCR4๏ผ‰้บไผๅญใฎgain-of-function้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใ€‚WHIMใฏใ€ใ“ใฎ็–พๆ‚ฃใฎ่‡จๅบŠๅƒใฎ็‰นๅพดใงใ‚ใ‚‹Wartsใ€Hypogammaglobulinemiaใ€recurrent bacterial Infectionsใ€Myelokathexisใฎ็•ฅใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸใ‹ใ‚‰่‚บ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ€ไธญ่€ณ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€ๆญฏๅ‘จ็‚Žใชใฉใฎ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่ตท็‚Ž่Œใฏไธ€่ˆฌ็ดฐ่Œใงใ‚ใ‚Šใ€ๆŠ—็”Ÿๅ‰คใซๆฏ”่ผƒ็š„ใ‚ˆใๅๅฟœใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚10ไปฃใซใชใ‚‹ใจใ€ใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹็–ฃ่ด…ใŒๅคš็™บใ™ใ‚‹ใ‚ˆใ†ใซใชใ‚‹ใŒใ€10ไปฃไปฅๅ‰ใซใŠใ“ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€็–ฃ่ด…ใฎใชใ„ๆ‚ฃ่€…ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไป–ใฎใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹ๆ˜“ๆ„ŸๆŸ“ๆ€งใฏใชใ„ใ€‚" @ja
dcterms:identifier2200404NANDO:2200767
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_38_083_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Lipodystrophy" + "WHIM syndrome" @en
rdfs:label - "่„‚่‚ช็•ฐๆ „้คŠ็—‡" + "WHIM็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ ใถใ‚‹ใˆใ„ใกใ‚ใ„ใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_38_083/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1643
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100147http://nanbyodata.jp/ontology/NANDO_2200765
skos:altLabel - "่„‚่‚ช่Ž็ธฎ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006573http://purl.obolibrary.org/obo/MONDO_0008674
skos:prefLabel - "่„‚่‚ช็•ฐๆ „้คŠ็—‡" + "WHIM็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + + + + + "็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡" + @ja + + +
http://nanbyodata.jp/ontology/nando#2200405 +
http://nanbyodata.jp/ontology/NANDO_2200768 (rdf:type owl:Class @@ -118689,100 +176250,142 @@

hasNotificationNumber64hasNotificationNumber25
dcterms:description - "ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ€่†ตๆถˆๅŒ–็ฎกๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ€ไธ‹ๅž‚ไฝ“่…บ่…ซใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…บ่…ซใพใŸใฏ้Žๅฝขๆˆใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "EVER1ใ‚ใ‚‹ใ„ใฏEVER2ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚ใ‚‹ใ„ใฏX้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ ดๅˆใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚EVER้บไผๅญใฏใ€่†œ่ฒซ้€š่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ไบœ้‰›ใฎhomeostasisใซ้‡่ฆใชๅƒใใ‚’ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€EVER่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใฃใฆใ‚ฆใ‚คใƒซใ‚น้บไผๅญใ€็‰นใซpro-oncogeneใงใ‚ใ‚‹E6ใ‚„E7ใฎ็™บ็พใŒไบข้€ฒใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใฏ้›ฃๆฒปๆ€งใƒปๆ’ญ็จฎๆ€งใงใ‚ใ‚‹ใ€‚้€šๅธธไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็šฎ่†š็™Œใ‚’้ซ˜็Ž‡ใซๅˆไฝตใ™ใ‚‹ใ€‚็šฎ็–น็—…ๅค‰ใฏๆ‰‹่ƒŒใ‚„้กใ‹ใ‚‰ใฏใ˜ใพใ‚Šใ€ๆฌก็ฌฌใซๅ››่‚ขใ€้ฆ–ใ€่บฏๅนนใซ้€ฒๅฑ•ใ—ใฆใ„ใใ€‚่บฏๅนนใ€้ฆ–ใ€ๅ››่‚ขใซใŠใ“ใ‚‹ใ‚‚ใฎใฏใ€ๅนณๅฆใ€็–ฃ่ด…็Šถใ€ไฝŽ่‰ฒ็ด ๆ€งใ‚ใ‚‹ใ„ใฏ่‰ฒ็ด ๆ€งไธ˜็–นใงใ‚ใ‚Šใ€่žๅˆๅ‚พๅ‘ใŒใฟใ‚‰ใ‚Œใ€ๅขƒ็•ŒใŒไธ่ฆๅ‰‡ใชๆ–‘็Šถ่ฝๅฑ‘ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๅ…‰ใฎๆšด้œฒใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใซใฏใ€็–ฃ่ด…็Šถใ‚ใ‚‹ใ„ใฏ่„‚ๆผๆ€ง่ง’ๅŒ–็Šถใฎ็—…ๅค‰ใจใชใ‚Šใ‚„ใ™ใๆ‚ชๆ€งๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚็šฎ็–นใฏฮฒใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚น๏ผˆHPV๏ผ‰ใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ€‚19็จฎ้กž็•ฐๅธธใฎใ‚ฟใ‚คใƒ—ใฎฮฒHPVใŒๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€้€šๅธธใ€่ค‡ๆ•ฐใฎ็จฎ้กžใฎใ‚ฆใ‚คใƒซใ‚นใŒๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ใ€‚HPV-5ใ€3ใ€10ใฎ้ ปๅบฆใŒ้ซ˜ใใ€HPV-5ใฏใ€ๆ‚ชๆ€งๅŒ–ใจ้–ข้€ฃใŒ้ซ˜ใ„ใ€‚ๆ‚ฃ่€…ใฎๆœซๆขข่ก€ๅ…็–ซ่ƒฝๆคœๆŸปใฏๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€T็ดฐ่ƒžๆ•ฐใฎๆธ›ๅฐ‘ใ€mitogenใ‚„HPVใซๅฏพใ™ใ‚‹ไฝŽๅๅฟœๆ€งใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200405NANDO:2200768
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_39_084_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Multiple endocrine neoplasia type 1" + "Epidermodysplasia verruciformis" @en
rdfs:label - "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹" + "ใ‚†ใ†ใœใ„ใ˜ใ‚‡ใ†ใฒใ‚‡ใ†ใฒใฏใคใ„ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=531http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2162
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_39_084/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00842
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100148http://nanbyodata.jp/ontology/NANDO_2200765
- skos:altLabel + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009176
+ skos:prefLabel - "MEN1" - @en
+ + + + + + - + + + + + - + + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + - +
http://nanbyodata.jp/ontology/NANDO_2200769 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber25
- skos:altLabel + dcterms:identifierNANDO:2200769
+ rdfs:label - "Wermer syndrome" + "severe viral infection" @en
- skos:altLabel + rdfs:label - "Wermer็—‡ๅ€™็พค" - @ja
- skos:altLabel + rdfs:label - "ใ‚ฆใ‚งใƒซใƒžใƒผ็—‡ๅ€™็พค" + "้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" @ja
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200765
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007540http://purl.obolibrary.org/obo/MONDO_0005108
skos:prefLabel - "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹" + "้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" @ja
- - + - - + + - + - + - - - - - - - - - + + "ใˆใ™ใฆใƒใƒผใˆใƒผใฆใƒใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200406 +
http://nanbyodata.jp/ontology/NANDO_2200770 (rdf:type owl:Class @@ -118790,100 +176393,84 @@

hasNotificationNumber65hasNotificationNumber25
dcterms:description - "็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…ซ็˜ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚" @ja
dcterms:identifier2200406NANDO:2200770
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_39_085_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Multiple endocrine neoplasia type 2" + "STAT2 deficiency" @en
rdfs:label - "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹" + "STAT2ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_39_085/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100148
- skos:altLabel + rdfs:label - "MEN2" - @en
- skos:altLabel - "Sipple syndrome" - @en + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9048
- skos:altLabel - "Sipple็—‡ๅ€™็พค" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9050
- skos:altLabel - "ใ‚ทใƒƒใƒ—ใƒซ็—‡ๅ€™็พค" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008234 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200769
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019003http://purl.obolibrary.org/obo/MONDO_0014715
skos:prefLabel - "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹" + "STAT2ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใˆใ‚€ใ—ใƒผใˆใ‚€4ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200407 +
http://nanbyodata.jp/ontology/NANDO_2200771 (rdf:type owl:Class @@ -118891,67 +176478,79 @@

hasNotificationNumber66hasNotificationNumber25
dcterms:description - "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ใŠใ‚ˆใณ2ๅž‹ใซๅฑžใ•ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹Von Hippel-Lindau็—…ใŠใ‚ˆใณVon Recklinghausen็—…ใ€ใใฎไป–ใŒๅซใพใ‚Œใ‚‹๏ผˆใŸใ ใ—ใ€Von Recklinghausen็—…ใซใคใ„ใฆใฏ ็šฎ่†š็–พๆ‚ฃ11. ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… ใ‚’ๅ‚็…งใฎใ“ใจ๏ผ‰ใ€‚" + "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MCM4้บไผๅญ็•ฐๅธธใฏใ€ACTH่€ๆ€ง็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ๆ็—‡ใ€NK็ดฐ่ƒžๆฌ ๆใ€ๆˆ้•ท้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆŸ“่‰ฒไฝ“ๆ–ญ่ฃ‚ใŒ่ตทใ“ใ‚Šใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰ๅœฐๆ–นใฎ1้ƒจใฎ้›†ๅ›ฃใซๅคšใ„ใจใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚" @ja
dcterms:identifier2200407NANDO:2200771
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_39_086_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" + "MCM4 mutation" + @en
+ rdfs:label + "MCM4้บไผๅญ็•ฐๅธธ็—‡" @ja
rdfs:label - "Multiple endocrine neoplasia" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_39_086/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8191
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100148http://nanbyodata.jp/ontology/NANDO_2200769
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017169http://purl.obolibrary.org/obo/MONDO_0012383
skos:prefLabel - "84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜" + "MCM4้บไผๅญ็•ฐๅธธ็—‡" @ja
- - + - - + + + + + + - + - + + "Herpes simplex encephalitis" + @en + "ใŸใ‚“ใ˜ใ‚…ใ‚“ใธใ‚‹ใบใ™ใฎใ†ใˆใ‚“" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200408 +
http://nanbyodata.jp/ontology/NANDO_2200772 (rdf:type owl:Class @@ -118959,55 +176558,74 @@

hasNotificationNumber66hasNotificationNumber25
+ dcterms:description + "้บไผ็š„ใช่ฆๅ› ใซใ‚ˆใฃใฆๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’่ตทใ“ใ™ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’็นฐใ‚Š่ฟ”ใ—ใ‚„ใ™ใ„ใ€‚TLR3ใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้–ข้€ฃใ™ใ‚‹ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆใ€TLR3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€UNC93B1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TRAF3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใ€TRIF๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TBK1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2200408NANDO:2200772
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_39_086_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Von Hippel-Lindau็—…" - @ja
rdfs:label - "Von Hippelโ€“Lindau disease" - @en
+ rdfs:label + "ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_39_086/https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200407http://nanbyodata.jp/ontology/NANDO_2200765
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012521
skos:prefLabel - "Von Hippel-Lindau็—…" + "ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž" @ja
- - + - - + + - + - + - - - - - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200409 +
http://nanbyodata.jp/ontology/NANDO_2200773 (rdf:type owl:Class @@ -119015,77 +176633,69 @@

hasNotificationNumber63hasNotificationNumber25
dcterms:description - "1935ๅนดใซใ€ไธกๅดๅตๅทฃใฎๅคšๅšข่ƒžๆ€ง่…ซๅคงใจ่‚ฅๆบ€ใƒป็”ทๆ€งๅŒ–ๅพดๅ€™ใ‚’ไผดใ†ๆœˆ็ตŒ็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹Stein-Leventhal็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ไปฅๅพŒ๏ฝคๆˆไบบใซใŠใ„ใฆใฏๆŽ’ๅต้šœๅฎณใ‚’ไผดใ†็—‡ๅ€™็พคใจใ—ใฆไธ€่ˆฌๅŒ–ใ—ใŸใŒใ€ๅฟ…ใšใ—ใ‚‚็‰นๅพด็š„ๅพดๅ€™ใ‚’ๆœ‰ใ•ใชใ„PCOS็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๅŸบๆบ–ใŒๆ›–ๆ˜งใจใชใฃใฆใ„ใŸใ€‚ๆตทๅค–ใงใฏ1990ๅนดใซNIHใŒๆŽ’ๅต้šœๅฎณใจ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใฎไบŒใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†่จบๆ–ญๅŸบๆบ–ใ‚’ไฝœๆˆใ—ใ€2003ๅนดใซESHRE/ASRMใฎใ€ใ„ใ‚ใ‚†ใ‚‹Rotterdam CriteriaใŒ็ญ–ๅฎšใ•ใ‚Œใ€ๆŽ’ๅต้šœๅฎณใ€้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎใ†ใกไบŒใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจใ—ใ€ใ“ใ‚ŒใŒไธ–็•Œ็š„ใซใฏๆœ€ใ‚‚ๅคšใไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2009ๅนดใซใฏAES๏ผˆAndrogen Excess Society๏ผ‰ใŒ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ‚’่ชใ‚ใชใ„PCOSใฎๅญ˜ๅœจใซ็–‘ๅ•ใ‚’ๅ‘ˆใ—ใ€ๆœชใ ่ญฐ่ซ–ใฏ็ถ™็ถšใ—ใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆ–นๆœฌ้‚ฆใงใฏใ€ๆฌง็ฑณใจใฎ่กจ็พๅž‹ใŒ็•ฐใชใ‚‹ใ“ใจใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€็‰นใซ่‚ฅๆบ€ใ‚’ไผดใ†ไพ‹ใŒๅฐ‘ใชใ„ใ“ใจใ€ๆฑใ‚ขใ‚ธใ‚ข็ณปใงใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใงใ‚‚ๅคšๆฏ›ใ‚’ๆฅใ•ใชใ„ไพ‹ใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€ๆฌง็ฑณใฎๅฎš็พฉใ‚’ใใฎใพใพๅฝ“ใฆใฏใ‚ใ‚‹ใ“ใจใซใฏ็„ก็†ใŒใ‚ใฃใŸใ€‚ใใ“ใงๆ—ฅๆœฌ็”ฃๅฉฆไบบ็ง‘ๅญฆไผšใฏใ€1993ๅนดใซ็”ŸๅŒ–ๅญฆใƒ‡ใƒผใ‚ฟใ‚’็››ใ‚Š่พผใฟ๏ฝคๆŽ’ๅต้šœๅฎณใ€้ซ˜LHใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ใ—ใ‹ใ—ใ€LHๆธฌๅฎš็ณปใฎๅ•้กŒใชใฉใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ€2007ๅนดใซใฏใ“ใ‚Œใ‚’ๆ”นๅฎšใ—ใ€ๆœˆ็ตŒ็•ฐๅธธ๏ผˆๆŽ’ๅต้šœๅฎณ๏ผ‰ใ€้ซ˜LHใพใŸใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใ€ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚" + "ๅฃ่…”ๅ†…ใ‚ซใƒณใ‚ธใƒ€็—‡ใ‚„ๅค–้™ฐ้ƒจใ‚ซใƒณใ‚ธใƒ€็—‡ใชใฉใฎๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ใฎ่‡จๅบŠๅƒใจใ€ๆทฑ้ƒจ่‡“ๅ™จใฎใ‚ซใƒณใ‚ธใƒ€็—‡ใฎไธก่€…ใŒ่ตทใ“ใ‚‹็‚นใŒ็‰นๅพด็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็ณธ็Šถ่Œ็—‡ใ‚„ไฝ“้ƒจ็™ฝ็™ฌใ‚‚่ตทใ“ใ‚Šใ‚„ใ™ใใ€็ดซ่‰ฒ็™ฝ็™ฌ่Œใ‚„็ด…่‰ฒ็™ฝ็™ฌ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ•ใ‚งใ‚ชใƒ•ใ‚ฃใƒ›็œŸ่Œ็—‡็ญ‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€ไธญๆžข็ฅž็ตŒ็ณปใฎใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“็—‡ใ‚’ใŠใ“ใ—ใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚CARD9ใฏใ€่‡ช็„ถๅ…็–ซใ‚’ๆ‹…ใ†็ดฐ่ƒžใซใŠใ„ใฆใ€Dectin-1ใ‚„Dectin-2ใ€Mincle็ญ‰ใฎC-type lectin receptorใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ๅฅฝไธญ็ƒใฏCandidaใซๅฏพใ™ใ‚‹ๆฎบ่Œ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžๅ†…ใงใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€Th17็ดฐ่ƒžใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200409NANDO:2200773
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_40_087_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Polycystic ovary syndrome" + "CARD9 deficiency" @en
rdfs:label - "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" + "CARD9ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1463
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01739 + rdfs:label + "ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ9ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_40_087/https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100149
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008487http://nanbyodata.jp/ontology/NANDO_2200765
skos:prefLabel - "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค" + "CARD9ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200410 +
http://nanbyodata.jp/ontology/NANDO_2200774 (rdf:type owl:Class @@ -119093,74 +176703,74 @@

hasNotificationNumber88hasNotificationNumber25
dcterms:description - "45,Xใ‚’ไปฃ่กจใจใ™ใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใง๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใƒขใƒŽใ‚ฝใƒŸใƒผใฎไป–ใซ๏ผŒi(Xq), Xp-, Yp-ใชใฉใฎๆง‹้€ ็•ฐๅธธ๏ผŒใŠใ‚ˆใณ๏ผŒ็จฎใ€…ใฎใƒขใ‚ถใ‚คใ‚ฏใชใฉใŒๅซใพใ‚Œใ‚‹๏ผŽ่‡จๅบŠ็š„ใซใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ง่…บ็•ฐๅฝขๆˆ๏ผŒ็‰นๅพด็š„ๅฅ‡ๅฝขๅพดๅ€™ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œ๏ผŒใพใŸ๏ผŒ้ซ˜ๅบฆใฎๆต็”ฃ็Ž‡ใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽ็พๅœจ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใฎๆญฃ็ขบใชๅฎš็พฉใฏใชใ„ใŒ๏ผŒ้€šๅธธใฎๆŸ“่‰ฒไฝ“ๆคœๆŸปใง่ช่ญ˜ใ•ใ‚Œใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธใจไธŠ่จ˜ใฎ่‡จๅบŠ็—‡็Šถใฎๅฐ‘ใชใใจใ‚‚๏ผ‘ใคใŒๅญ˜ๅœจใ™ใ‚‹ใจใ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ—ใฆใ‚ˆใ„ใจ่€ƒใˆใ‚‹๏ผŽ็‰นใซ๏ผŒๅพŒ่ฟฐใฎใ‚ˆใ†ใซใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค็™บ็—‡ใฎ่ฒฌไปป้บไผๅญใฏXๆŸ“่‰ฒไฝ“็Ÿญ่…•ใจYๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซๅญ˜ๅœจใ™ใ‚‹ใŸใ‚๏ผŒๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆฌ ๅคฑใจ็‰นๅพด็š„่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใฏ่จบๆ–ญ็‰น็•ฐ็š„ใงใ‚ใ‚‹๏ผŽใ“ใฎๆ–‡่„ˆใ‹ใ‚‰SHOXใ‚’ๅซใ‚€ๆŸ“่‰ฒไฝ“ๆคœๆŸปใงๆคœๅ‡บใงใใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎๅพฎๅฐๆฌ ๅคฑใฏใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใŒ๏ผŒๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒๅญ˜ๅœจใ—ใฆใ‚‚่‡จๅบŠ็—‡็ŠถใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑ๏ผ‰ใ‚„๏ผŒ่‡จๅบŠ็—‡็ŠถใŒๅญ˜ๅœจใ—ใฆใ‚‚ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšSHOXใ‚’ๅซใ‚€ๅพฎๅฐๆฌ ๅคฑ๏ผ‰ใซใฏ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจใ„ใ†่จบๆ–ญใฏ้ฟใ‘ใ‚‹ในใใง๏ผŒๅ‰่€…ใฏXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑใซใ‚ˆใ‚‹ไบŒๆฌกๆ€ง็„กๆœˆ็ตŒ๏ผŒๅพŒ่€…ใฏ๏ผŒSHOX็•ฐๅธธ็—‡ใจ่จบๆ–ญใ™ใ‚‹๏ผŽ" + "ๆตทๅค–ใงๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžใซๅฏพใ™ใ‚‹่‡ช็„ถๅ…็–ซใจใ—ใฆ่ก€ๆธ…ไธญใฎapolipoprotein L-1๏ผˆAPOL1๏ผ‰ใŒ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚้€šๅธธใƒ’ใƒˆใซใฏๆ„ŸๆŸ“ใ—ใชใ„T. evansiใฎๆ„ŸๆŸ“็—‡ใ‚’่ตทใ“ใ—ใŸๆ‚ฃ่€…ใงใ€APOL1ใŒๆฌ ๆใ—ใฆใ„ใŸไบ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200410NANDO:2200774
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_41_088_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Turner syndrome" + "Trypanosomiasis" @en
rdfs:label - "ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค" + "ใจใ‚Šใฑใฎใใƒผใพใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_41_088/https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100150
- skos:altLabel - "Turner็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200765
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019499http://purl.obolibrary.org/obo/MONDO_0000940
skos:prefLabel - "ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค" + "ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200411 +
http://nanbyodata.jp/ontology/NANDO_2200775 (rdf:type owl:Class @@ -119168,79 +176778,79 @@

hasNotificationNumber91hasNotificationNumber25
dcterms:description - "ใƒ—ใƒฉใƒ€ใƒผใ‚ฆใ‚คใƒชใƒผ็—‡ๅ€™็พค๏ผˆPWS๏ผ‰ใฏใ€1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚คใƒชใƒผใŒๅ ฑๅ‘Šใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธใซใฏ่‚ฅๆบ€ใ€็ณ–ๅฐฟ็—…ใ€ไฝŽ่บซ้•ทใ€ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใชใฉใŒใ€็ฅž็ตŒๅญฆ็š„็•ฐๅธธใซใฏ็™บ้”้…ๆปžใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€็‰น็•ฐใชๆ€งๆ ผ้šœๅฎณใƒป่กŒๅ‹•็•ฐๅธธใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚" + "ๅฟƒ็–พๆ‚ฃใชใฉใ€ไป–ใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใชใ„ใ€ๅ…ˆๅคฉ็š„ใช็„ก่„พ็—‡ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆRPSAใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฒฌไปป้บไผๅญใŒใพใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅคšใ„ใ€‚่Žข่†œๅคš็ณ–ไฝ“ใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่Œใ€็‰นใซ่‚บ็‚Ž็ƒ่Œใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถ่Œ็ญ‰ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€็‰นใซๆ•—่ก€็—‡ใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚ๆŠ—็”Ÿๅ‰คใฎไบˆ้˜ฒๅ†…ๆœใ€่‚บ็‚Ž็ƒ่Œใƒฏใ‚ฏใƒใƒณใชใฉใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใฎไบˆ้˜ฒใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200411NANDO:2200775
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_41_089_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "Prader-Willi syndrome" + "Isolated congenital asplenia" @en
rdfs:label - "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" + "ใ“ใ‚Šใคใ›ใ„ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1273http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3048
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_41_089/https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100150
- skos:altLabel - "Prader-Willi็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200765
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008300http://purl.obolibrary.org/obo/MONDO_0010066
skos:prefLabel - "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค" + "ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200412 +
http://nanbyodata.jp/ontology/NANDO_2200776 (rdf:type owl:Class @@ -119248,79 +176858,79 @@

hasNotificationNumber92hasNotificationNumber27
dcterms:description - "็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใ€็ทš็ถญๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅพดๅ€™ใŒๆ˜Žใ‚‰ใ‹ใชๅ ดๅˆใจใ€ๅพใ€…ใซ่‡จๅบŠ็—‡็ŠถใŒ็พใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚Šใ€ไธ‰ไธปๅพดใŒใ™ในใฆๆƒใ‚ใชใ„ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚10ๆญณไปฅไธ‹ใฎๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใฏๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š่ชใ‚ใ‚‹ใ€‚" + "่ฃœไฝ“ใฎๅ„ๆˆๅˆ†ใฎใ„ใšใ‚Œใ‹ใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๆฌ ๆใ™ใ‚‹่ฃœไฝ“ใฎ็จฎ้กžใซใ‚ˆใฃใฆใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซใ€้บไผๆ€ง่ก€็ฎกๆตฎ่…ซใ€็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใŠใ‚ˆใณ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏไป–ใฎใ‚ซใƒ†ใ‚ดใƒชใƒผใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใฎใงใ€ใ“ใ“ใงใฏๅ‰ฒๆ„›ใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200412NANDO:2200776
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_41_090_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "McCune-Albright syndrome" + "Inherited deficiency of complement system" @en
rdfs:label - "ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1245http://nanbyodata.jp/ontology/NANDO_1200364
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_41_090/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100150
- skos:altLabel - "McCune-Albright็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2100209
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018919http://purl.obolibrary.org/obo/MONDO_0003832
skos:prefLabel - "ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200413 +
http://nanbyodata.jp/ontology/NANDO_2200777 (rdf:type owl:Class @@ -119328,89 +176938,72 @@

hasNotificationNumber89
- dcterms:description - "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พคใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ๆ˜ฅๆœŸ้…็™บ๏ผŒๅฟƒๅฅ‡ๅฝข๏ผŒ็‰นๅพด็š„ๅค–่กจๅฅ‡ๅฝข๏ผˆ็œผ้–“ไน–้›ข๏ผŒ็ฟผ็Šถ้ š๏ผŒๅค–ๅ่‚˜ใชใฉ๏ผ‰ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅ…ˆๅคฉๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹๏ผŽ็Ÿฅ่ƒฝไฝŽไธ‹๏ผŒ้›ฃ่ด๏ผŒๅ‡บ่ก€ๆ€ง็ด ๅ› ๏ผŒ็”ทๅ…ๅค–ๆ€งๅ™จๅฝขๆˆ้šœๅฎณใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œ๏ผŒ่ƒŽๅ…ๆฐด่…ซใ‚„็™ฝ่ก€็—…๏ผˆ็‰นใซjuvenile myelomonocytic leukemia, JMML๏ผ‰ใ€ใ•ใ‚‰ใซใฏๅ›บๅฝข่…ซ็˜ใ‚‚ใจใใซๅ‡บ็พใ™ใ‚‹๏ผŽ" - @jahasNotificationNumber27
dcterms:identifier2200413NANDO:2200777
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_41_091_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "Noonan syndrome" + "C1q deficiency" @en
rdfs:label - "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" + "C1qย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1093 + rdfs:label + "ใ—ใƒผ1ใใ‚…ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01738http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7663
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_41_091/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100150
- skos:altLabel - "Noonan็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008104http://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018997http://purl.obolibrary.org/obo/MONDO_0013343
skos:prefLabel - "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค" + "C1qย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200414 +
http://nanbyodata.jp/ontology/NANDO_2200778 (rdf:type owl:Class @@ -119418,84 +177011,72 @@

hasNotificationNumber90
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏ่‚ฅๆบ€ใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ€ๆ…ขๆ€ง่…Ž้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅคšๆŒ‡็—‡ใƒปๅˆๆŒ‡็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹่‚็กฌๅค‰ใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใƒญใƒผใƒฌใƒณใ‚นใƒปใƒ ใƒผใƒณใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒ ๅคšใ„ใŒใ€ใใ‚Œใฏไธ–็•Œ็š„ใซใฏ่‚ฅๆบ€ใฎใชใ„ๅˆฅใฎ็–พๆ‚ฃใ‚’ๆŒ‡ใ™ใจใ•ใ‚Œใ‚‹ใ€‚้€šๅธธใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่จบๆ–ญใ•ใ‚Œใ‚‹ใŒใ€ๆ™‚ใซๆˆไบบใซใชใฃใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200414NANDO:2200778
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_05_41_092_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "Bardet-Biedl syndrome" + "C1r deficiency" @en
rdfs:label - "ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค" + "C1rย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผ1ใ‚ใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8766http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1980
rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_41_092/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100150
- skos:altLabel - "Bardet-Biedl็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014432http://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015229http://purl.obolibrary.org/obo/MONDO_0009005
skos:prefLabel - "ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค" + "C1rย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - - - - - + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200415 +
http://nanbyodata.jp/ontology/NANDO_2200779 (rdf:type owl:Class @@ -119503,84 +177084,67 @@

hasNotificationNumber8
- dcterms:description - "ไปฅๅ‰ใฏ ่‹ฅๅนดๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจๅ‘ผใฐใ‚ŒใŸ็—…ๆ…‹ใ‚’ๅซใ‚€ใ€‚ๅ›ฝ้š›ใƒชใ‚ฆใƒžใƒๅญฆไผš๏ผˆInternational Leagues of associations for Rheumatism: ILAR๏ผ‰ใฎๅฐๅ…ใƒชใ‚ฆใƒžใƒๅธธไปปๅง”ๅ“กไผšใŒ1994ๅนดใฎSantiagoไผš่ญฐใซใŠใ„ใฆใ€Œ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—ใ€6้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้–ข็ฏ€็‚Žใงใ€ไป–ใฎ็—…ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใ€ใ‚’่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis: JIA๏ผ‰ใจๅฎš็พฉใ—ใŸใ€‚ใใฎๅพŒ1997ๅนดใฎDurbanๆ”น่จ‚ใ€2001ๅนดใฎEdmontonๆ”น่จ‚ใ‚’็ตŒใฆใ€็พๅœจILARๅˆ†้กžใฏๅฐๅ…ใฎๆ…ขๆ€ง้–ข็ฏ€็‚Žใฎๅ›ฝ้š›ๅŸบๆบ–ใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€ILARๅˆ†้กžใฏJIAใ‚’ไธ‹่จ˜ใฎ7็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€€ๆœฌ้‚ฆใซใŠใ„ใฆใ‚‚ใ€ๆ—ฅๆœฌๅฐๅ…ใƒชใ‚ฆใƒžใƒๅญฆไผšใŒไธŠ่จ˜ๅˆ†้กžใซใ‚‚ใจใฅใใ€Œ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽๅˆๆœŸ่จบ็™‚ใฎๆ‰‹ๅผ•ใ๏ผˆ2007ๅนด๏ผ‰ใ€ใ‚’ไฝœๆˆใ—ใŸใ€‚ใ—ใ‹ใ—ใ€็™บ็—‡ๆ—ฉๆœŸใซใฏILARๅˆ†้กžใ‚’็”จใ„ใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใŸใ‚ใ€ๆœฌ้‚ฆใฎๅฐๅ…่จบ็™‚ใฎๅฎŸๆƒ…ใซๅˆใ‚ใ›ใ€ๆ–ฐใŸใซใ€Ž่จบๆ–ญใฎๆ‰‹ๅผ•ใใ€ใ‚’็ญ–ๅฎšใ—ใŸใ€‚่กจ๏ผš่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽILARๅˆ†้กž๏ผˆ2001๏ผ‰" - @jahasNotificationNumber27
dcterms:identifier2200415NANDO:2200779
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "juvenile idiopathic arthritis" + "C1s deficiency" @en
rdfs:label - "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + "C1sย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9464
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01672 + rdfs:label + "ใ—ใƒผ1ใˆใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_001/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100152
- skos:altLabel - "JIA" - @enhttp://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011429http://purl.obolibrary.org/obo/MONDO_0013419
skos:prefLabel - "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + "C1sย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - - - - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200416 +
http://nanbyodata.jp/ontology/NANDO_2200780 (rdf:type owl:Class @@ -119588,84 +177152,62 @@

hasNotificationNumber9
- dcterms:description - "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นsystemic lupus erythematosus (SLE)ใฏใ€็ด…ๆ–‘ๆ€ง็‹ผ็˜ก๏ผˆใ“ใ†ใฏใ‚“ใ›ใ„ใ‚ใ†ใใ†๏ผ‰lupus erythematosusใจใ‚ˆใฐใ‚Œใ‚‹็šฎ็–นใ‚’็‰นๅพดใจใ—ใ€็™บ็†ฑใ‚„ๅ€ฆๆ€ ๆ„Ÿใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚Šใ€ๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใ‹ใ‚‰ใชใ‚‹ๅ…็–ซ่ค‡ๅˆไฝ“ใŒ่ก€็ฎกใซๆฒˆ็€ใ—ใ€่ฃœไฝ“็ณปใ‚’ๆดปๆ€งๅŒ–ใ—ใฆ่ก€็ฎกใ‚„็ต„็น”ใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ“ใจใงใ€็šฎ่†š(็šฎ็–น)ใ€่…Ž่‡“(ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž)ใ€ไธญๆžข็ฅž็ตŒ็ณป(CNSใƒซใƒผใƒ—ใ‚น)ใชใฉใซๅคšๅฝฉใช่‡“ๅ™จ็—…ๅค‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใ€€ๅฐๅ…SLEใจใฏ16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใŒใ€ๆˆไบบไพ‹ใจๆฏ”ในใฆไธ€่ˆฌใซ็ตŒ้Žใฏๆ€ฅๆ€งใง้‡็—‡ไพ‹ใŒๅคšใ„ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200416NANDO:2200780
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "systemic lupus erythematosus" + "C4 deficiency" @en
rdfs:label - "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" + "C4ย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=902
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080 + rdfs:label + "ใ—ใƒผ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_002/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100152
- skos:altLabel - "SLE" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007915http://nanbyodata.jp/ontology/NANDO_2200776
skos:prefLabel - "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น" + "C4ย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200417 +
http://nanbyodata.jp/ontology/NANDO_2200781 (rdf:type owl:Class @@ -119673,67 +177215,72 @@

hasNotificationNumber10
- dcterms:description - "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž(JDM)ใฏ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—็‰นๅพด็š„ใช็šฎ็–นใจๅฏพ็งฐ็š„็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็šฎ่†šใŠใ‚ˆใณ็ญ‹่‚‰ใฎ็—‡็ŠถใŒๅ…ฑใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใฏๅคๅ…ธ็š„JDMใจใ™ใ‚‹๏ผŽJDMใฏ็—…ๆ…‹ใ‚„ไบˆๅพŒใชใฉใฎ้•ใ„ใ‹ใ‚‰ๆˆไบบใฎ็šฎ่†š็ญ‹็‚Ž(DM)ใจใฏๅˆ†ใ‘ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽๅ…ธๅž‹็š„ใช็šฎ่†šๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใชใŒใ‚‰ๆ˜Žใ‚‰ใ‹ใช็ญ‹็—‡็Šถใ‚’่ชใ‚ใชใ„ใ‚‚ใฎ่‹ฅๅนด็™บ็—‡่‡จๅบŠ็š„็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž(juvenile-onset clinically amyopathic dermatomyositis,JCADM)ใจใ•ใ‚Œ๏ผŒใ“ใ‚ŒใซใฏๆคœๆŸปไธŠ็ญ‹็‚Žใ‚’็คบใ™ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใจ่ชใ‚ใชใ„ๅ ดๅˆใŒใ‚ใ‚‹(่‡จๅบŠ็—‡็Šถใฎ้ …ใ‚’ๅ‚็…ง)๏ผŽใพใŸ็‚Ž็—‡ๆ€ง็ญ‹็‚Žใ‚’ๅ‘ˆใ—ใชใŒใ‚‰็šฎ่†š็—‡็Šถใ‚’ๆฌ ใใ‚‚ใฎใฏ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž(JPM)ใจใ•ใ‚Œใ‚‹ใŒๅฐๅ…ใซใŠใ„ใฆใฏใพใ‚Œใงใ‚ใ‚‹๏ผŽ" - @jahasNotificationNumber27
dcterms:identifier2200417NANDO:2200781
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "juvenile dermatomyositis, polymyositis" + "C2 deficiency" @en
rdfs:label - "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" + "C2ย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01604http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1981
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_003/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100152http://nanbyodata.jp/ontology/NANDO_2200776
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009006
skos:prefLabel - "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž" + "C2ย ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + - - + + - + - - - - - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200418 +
http://nanbyodata.jp/ontology/NANDO_2200782 (rdf:type owl:Class @@ -119741,89 +177288,67 @@

hasNotificationNumber10hasNotificationNumber27
dcterms:identifier2200418NANDO:2200782
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "juvenile dermatomyositis" + "C3 deficiency" @en
rdfs:label - "็šฎ่†š็ญ‹็‚Ž" + "C3ย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1042 + rdfs:label + "ใ—ใƒผ3ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_003/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200417
- skos:altLabel - "DM" - @en
- skos:altLabel - "JDM" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005015
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008054http://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016367http://purl.obolibrary.org/obo/MONDO_0013417
skos:prefLabel - "็šฎ่†š็ญ‹็‚Ž" + "C3ย ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - - - - - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200419 +
http://nanbyodata.jp/ontology/NANDO_2200783 (rdf:type owl:Class @@ -119831,94 +177356,72 @@

hasNotificationNumber10hasNotificationNumber27
dcterms:identifier2200419NANDO:2200783
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "juvenile polymyositis" + "C5 deficiency" @en
rdfs:label - "ๅคš็™บๆ€ง็ญ‹็‚Ž" + "C5ย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผ5ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1042http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6570
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_003/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200417
- skos:altLabel - "JPM" - @en
- skos:altLabel - "PM" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008054
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019127
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019168http://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019734http://purl.obolibrary.org/obo/MONDO_0012295
skos:prefLabel - "ๅคš็™บๆ€ง็ญ‹็‚Ž" + "C5ย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200420 +
http://nanbyodata.jp/ontology/NANDO_2200784 (rdf:type owl:Class @@ -119926,91 +177429,72 @@

hasNotificationNumber7
- dcterms:description - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค (Sjรถgrenโ€™s syndrome: ไปฅไธ‹SS)ใฏใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซๅ‚ทๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ๅ…จ่บซๆ€งใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅค–ๅˆ†ๆณŒ่…บ็—‡ (autoimmune exocrinopathy)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บใฎไธญใงใ‚‚ๆถ™่…บใƒปๅ”พๆถฒ่…บใฎ้šœๅฎณใŒไธปใงใ€้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚Œใฐใ€ๆถ™ๆถฒๅˆ†ๆณŒใฎไฝŽไธ‹ใซใ‚ˆใ‚‹็œผใฎไนพ็‡ฅใ€ๅ”พๆถฒๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹ๅฃใฎไนพ็‡ฅใชใฉใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็—‡็Šถใฏใ‹ใชใ‚‰ใšใ—ใ‚‚่‡ช่ฆš็—‡็Šถใจใชใ‚‹ใ‚ใ‘ใงใชใใ€็พžๆ˜Žๆ„Ÿใ€็œผใฎ็•ฐ็‰ฉๆ„Ÿใ€ใ†ๆญฏใฎๅข—ๅŠ ใ€ๅฃๅ†…็‚Žใฎๅคš็™บใชใฉใฎ็—‡็Šถใจใ—ใฆ่กจใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใง็จฎใ€…ใฎ่‡ชๅทฑๆŠ—ไฝ“ใฎ็”ฃ็”ŸใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณๅ€คใŒ้ซ˜ๅ€คใจใชใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใจใ—ใฆใฏๆŠ—ๆ ธๆŠ—ไฝ“(ๆ–‘็ด‹ๅž‹)ใ€ๆŠ—SS-A/RoๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒๅ› ๅญใฎ้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ€‚ๆŠ—SS-B/LaๆŠ—ไฝ“ใฏSSใซ็‰น็•ฐๆ€งใฏ้ซ˜ใ„ใจใ•ใ‚Œใ‚‹ใŒใ€้™ฝๆ€ง็Ž‡ใฏใใ‚Œใปใฉ้ซ˜ใใชใ„ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บ้šœๅฎณไปฅๅค–ใซใ‚‚็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้šœๅฎณใŒๅค–ๅˆ†ๆณŒ่…บใซ้™ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚’่…บๅž‹SSใ€ๅค–ๅˆ†ๆณŒ่…บไปฅๅค–ใฎ่‡“ๅ™จใซ้šœๅฎณใŒใ‚ใ‚‹ไพ‹ใ‚’่…บๅค–ๅž‹SSใจๅ‘ผใถใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉ็จฎใ€…ใฎ่† ๅŽŸ็—…ใจๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€่† ๅŽŸ็—…ใฎๅˆไฝตใฎใชใ„ไพ‹ใ‚’ไธ€ๆฌกๆ€งSSใ€่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไพ‹ใ‚’ไบŒๆฌกๆ€งSSใจๅ‘ผใถใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200420NANDO:2200784
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "Sjogren's syndrome" + "C6 deficiency" @en
rdfs:label - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "C6ย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3012 + rdfs:label + "ใ—ใƒผ6ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01502http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7144
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_004/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100152
- skos:altLabel - "Sjogren็—‡ๅ€™็พค" - @ja
- skos:altLabel - "Sjรถgren's Syndrome" - @enhttp://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010030http://purl.obolibrary.org/obo/MONDO_0012908
skos:prefLabel - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค" + "C6ย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200421 +
http://nanbyodata.jp/ontology/NANDO_2200785 (rdf:type owl:Class @@ -120018,67 +177502,72 @@

hasNotificationNumber6
- dcterms:description - "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคใฏใ€ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฎๅญ˜ๅœจไธ‹ใซ่ก€ๆ “ๅ‚พๅ‘ใŒๅข—ใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏๅ‹•้™่„ˆ่ก€ๆ “็—‡ใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฏใƒชใƒณ่„‚่ณชใพใŸใฏใƒชใƒณ่„‚่ณชใจ่›‹็™ฝใฎ่ค‡ๅˆไฝ“ใซ็ตๅˆใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใฎ็ท็งฐใงใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใ‚„็”Ÿ็‰ฉๅญฆ็š„ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€่‡จๅบŠ่จบๆ–ญใซใฏๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณฮฒ2-ใ‚ฐใƒชใ‚ณใƒ—ใƒญใƒ†ใ‚คใƒณโ… ๏ผˆaPLฮฒ2GPI๏ผ‰ๆŠ—ไฝ“ใ‚‚ใ—ใใฏใƒซใƒผใƒ—ใ‚นใ‚ขใƒณใƒใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆ๏ผˆLA๏ผ‰ใฎๅญ˜ๅœจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ใ€€ๅ˜็‹ฌใง็™บ็—‡ใ—ใŸ็—‡ไพ‹ใฏๅŽŸ็™บๆ€งAPSใซใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใซไผดใ†ๅ ดๅˆใฏ็ถš็™บๆ€งAPSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚APSใฎ็‰นๆฎŠๅž‹ใจใ—ใฆใ€ๅคš่‡“ๅ™จใซๅพฎๅฐ่ก€ๆ “ใ‚’ใใŸใ—ๆ€ฅ้€Ÿใซๅคš่‡“ๅ™จไธๅ…จใซ้™ฅใ‚‹ใ€่‡ดๆญป็Ž‡ใŒ้ซ˜ใ„ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค(Catastrophic APS)ใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200421NANDO:2200785
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "anti-phospholipid antibody syndrome" + "C7 deficiency" @en
rdfs:label - "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" + "C7ย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผ7ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01697http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6688
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_005/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100152http://nanbyodata.jp/ontology/NANDO_2200776
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012412
skos:prefLabel - "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค" + "C7ย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200422 +
http://nanbyodata.jp/ontology/NANDO_2200786 (rdf:type owl:Class @@ -120086,74 +177575,62 @@

hasNotificationNumber11
- dcterms:description - "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏใ€็šฎ่†š็ฒ˜่†œ็—‡็Šถ๏ผˆๅๅพฉใ™ใ‚‹ๅฃๅ†…็‚Žใ€็šฎ่†š็—‡็Šถใ€ๅค–้™ฐ้ƒจๆฝฐ็˜๏ผ‰ใŠใ‚ˆใณ็œผ็—‡็Šถ๏ผˆใถใฉใ†่†œ็‚Ž๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€็‚Ž็—‡ใฎๅข—ๆ‚ชใจๅฏ›่งฃใ‚’ๅๅพฉใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏๆˆไบบไพ‹ใจๆฏ”่ผƒใ—ใฆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใฎๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„๏ผˆ็ด„50๏ผ…๏ผ‰ไธ€ๆ–นใงใ€็šฎ่†š็—‡็Šถ๏ผˆ็ด„60๏ผ…๏ผ‰ใƒปๅค–้™ฐ้ƒจๆฝฐ็˜๏ผˆ็ด„50๏ผ…๏ผ‰ใƒป็œผ็—‡็Šถ๏ผˆ็ด„20๏ผ…๏ผ‰ใฎๅ‡บ็พ้ ปๅบฆใŒๅฐ‘ใชใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ไธ–็•Œไธญใฎๅฐ‚้–€ๅฎถใฎๆ„่ฆ‹ใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใฎๅฎš็พฉใฏๅญ˜ๅœจใ›ใšใ€ๅ›ฝ้š›ๅŸบๆบ–๏ผˆCriteria of the International Study Group for diagnosis BD๏ผ‰ใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆˆไบบใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใ‚’ๅฏพ่ฑกใซไฝœๆˆใ•ใ‚ŒใŸ่ค‡ๆ•ฐใฎ่จบๆ–ญๅŸบๆบ–ใŒๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใงใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใ€ๅŽš็”ŸๅŠดๅƒ็œ ็‰นๅฎš็–พๆ‚ฃใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200422NANDO:2200786
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "Behcetโ€™s disease" + "C8 deficiency" @en
rdfs:label - "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + "C8ย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01476 + rdfs:label + "ใ—ใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_01_006/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100152
- skos:altLabel - "Behcet็—…" - @jahttp://nanbyodata.jp/ontology/NANDO_2200776
skos:prefLabel - "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…" + "C8ย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200423 +
http://nanbyodata.jp/ontology/NANDO_2200787 (rdf:type owl:Class @@ -120161,79 +177638,67 @@

hasNotificationNumber4
- dcterms:description - "ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžๅŠใณ่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‹ญ็ช„ใ€้–‰ๅกžๅˆใฏๆ‹กๅผต็—…ๅค‰ใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ๅ…จ่บซ็—‡็Šถใ€็‹ญ็ช„ใชใ„ใ—้–‰ๅกžใ‚’ใใŸใ—ใŸๅ‹•่„ˆใฎ่ก€ๆต้šœๅฎณใซใ‚ˆใ‚‹ๅ„็จฎ่‡“ๅ™จ้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏๆ‹กๅผตใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใชใฉใŒ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ้ƒจไฝใ‚„ๅบƒใŒใ‚Šใซใ‚ˆใฃใฆ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ใ€่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌง็ฑณใงใฏ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไธŠ่‚ข่ก€็ฎกใฎ่„ˆๆ‹ๆฌ ๆใ‚’ไผดใ†ใ“ใจใ‹ใ‚‰ใ€่„ˆใชใ—็—…ใจๅ‘ผใฐใ‚ŒใŸใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใซใฏไบบ็จฎๅทฎใ‚„ๅœฐๅŸŸๅทฎใŒใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็œใฎ็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญใฎๅฏพ่ฑก็–พๆ‚ฃใฎไธ€ใคใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200423NANDO:2200787
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "Takayasu arteritis" + "C9 deficiency" @en
rdfs:label - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" + "C9ย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775 + rdfs:label + "ใ—ใƒผ9ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_007/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100153
- skos:altLabel - "ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991http://purl.obolibrary.org/obo/MONDO_0013445
skos:prefLabel - "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" + "C9ย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - - - - - + + - + - + - - - - + "Dๅ› ๅญๆฌ ๆ็—‡" + @ja
http://nanbyodata.jp/ontology/nando#2200424 +
http://nanbyodata.jp/ontology/NANDO_2200788 (rdf:type owl:Class @@ -120241,84 +177706,69 @@

hasNotificationNumber5
- dcterms:description - "Wegener่‚‰่Šฝ่…ซ็—‡ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซๅ…จ่บซใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€งๅค‰ๅŒ–ใ‚’่ชใ‚ใ€็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCAใŒ้–ขไธŽใ™ใ‚‹ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚International Chapel Hill Consensus Conferenceใฎ2012ๅนดๆ”น่จ‚ใงใ€ๅพ“ๆฅใฎWegener่‚‰่Šฝ่…ซ็—‡ใจใ„ใ†ๅ‘ผใณๅใ‹ใ‚‰granulomatosis with polyangitis GPAใซๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚ANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใฎไธ€็–พๆ‚ฃใซๅŒบๅˆ†ใ•ใ‚Œใ€ไธŠไธ‹ๆฐ—้“ใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ใŠใ‚ˆใณๅฐใ‹ใ‚‰ไธญ่ก€็ฎกใ‚’ไธปใซไพตใ™ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’ๆฅใŸใ—ใ€้ซ˜้ ปๅบฆใซๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ‚‚ใฎใจๅ†ๅฎš็พฉใ•ใ‚ŒใŸใ€‚GPAใฏๅ…ƒๆฅใ€็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ใ—ใ‹ใ—ๅฃฐ้–€ไธ‹็‹ญ็ช„ใซไผดใ†ๅ‘ผๅธไธๅ…จใชใฉๆ•‘ๆ€ฅ็–พๆ‚ฃใจใ—ใฆใฎๆ€งๆ ผใ‚„ใ€่‡“ๅ™จๅพŒ้บ็—‡ใจใ—ใฆใฎ่…Žไธๅ…จใฎๅญ˜ๅœจใฏใ€ๅ˜ใชใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจใ—ใฆใฎใฟใงๆ‰ใˆใ‚‹ในใใงใฏใชใ„ใ“ใจใ‚’ๆ„ๅ‘ณใ—ใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ไธปไฝ“ใจใ—ใŸๅ…จ่บซๆ€ง็–พๆ‚ฃใจใ—ใฆใฎ็ฎก็†ใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200424NANDO:2200788
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_02_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "granulomatosis with polyangiitis" + "Factor D deficiency" @en
rdfs:label - "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + "Factor Dย ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9435
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01655 + rdfs:label + "ใตใใใŸใƒผใงใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_008/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100153http://nanbyodata.jp/ontology/NANDO_2200776
skos:altLabel - "GPA" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012105
skos:prefLabel - "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + "Factor Dย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200425 +
http://nanbyodata.jp/ontology/NANDO_2200789 (rdf:type owl:Class @@ -120326,86 +177776,72 @@

hasNotificationNumber1
- dcterms:description - "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Žใฏไธญๅž‹่ก€็ฎก็‚Žใซๅˆ†้กžใ•ใ‚Œใ€ไธญใƒปๅฐๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹ใŒใ€็ดฐๅ‹•่„ˆใ‚„ๆฏ›็ดฐ่ก€็ฎกใซใฏ่ก€็ฎก็‚Žใ‚’่ชใ‚ใชใ„ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็ดฐๅ‹•่„ˆไปฅไธ‹ใฎๅฐๅž‹่ก€็ฎกใŒไธปใช็ฝนๆ‚ฃ่ก€็ฎกใงใ‚ใ‚‹้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใจใฏใ€็—…ๆ…‹ใƒป็—‡็Šถใƒป็—…็†็ต„็น”ๆ‰€่ฆ‹ใƒปๆคœๆŸปๆ‰€่ฆ‹ใƒปไบˆๅพŒใชใฉใŒๆ˜Ž็ขบใซ็•ฐใชใ‚‹ใ€‚ANCAใŒ้™ฝๆ€งใซใชใ‚‹ใ“ใจใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200425NANDO:2200789
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_02_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "polyangiitis nodosa" + "Properdin deficiency" @en
rdfs:label - "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž" + "Properdinย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใทใ‚ใฑใƒผใ˜ใ‚“ ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4213http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3545
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_009/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100153
- skos:altLabel - "PN" - @en
- skos:altLabel - "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž" - @jahttp://nanbyodata.jp/ontology/NANDO_2200776
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011405http://purl.obolibrary.org/obo/MONDO_0010713
skos:prefLabel - "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž" + "Properdinย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200426 +
http://nanbyodata.jp/ontology/NANDO_2200790 (rdf:type owl:Class @@ -120413,79 +177849,67 @@

hasNotificationNumber2
- dcterms:description - "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚ŽMPAใฏใ€1994ๅนดใฎInternational Chapel Hill Consensus Conferenceใงใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽPANใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅ‹•้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใจใ—ใฆๆ–ฐใŸใซๅˆ†้กžใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใ‚’ใปใจใ‚“ใฉ่ชใ‚ใšใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCA้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ€ๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็—…ๆ…‹ใ‚„่‡จๅบŠ็—…ๅž‹ใซ็€็›ฎใ—ใŸ2012ๅนดๆ”น่จ‚ๅˆ†้กžใงใฏใ€Wegener่‚‰่Šฝ่…ซ็—‡๏ผๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡GPAใŠใ‚ˆใณChurg-Strauss็—‡ๅ€™็พค๏ผๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡EGPAใจใจใ‚‚ใซANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใซๅŒบๅˆ†ใ•ใ‚ŒใŸANCA้–ข้€ฃ่ก€็ฎก็‚Žใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ANCAใฎๅฏพๅฟœๆŠ—ๅŽŸใฏGPAใจ็•ฐใชใ‚ŠใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผMPOใŒๅคšใใ€็‰นใซๆœฌ้‚ฆใฎMPAไพ‹ใฎMPO-ANCAใฎ้™ฝๆ€ง็Ž‡ใฏ9ๅ‰ฒใ‚’่ถ…ใˆใ‚‹ใ€‚MPA ใฏ่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„็‚นใงGPAใ€EGPAใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200426NANDO:2200790
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_02_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "microscopic polyangiitis" + "Factor I deficiency" @en
rdfs:label - "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" + "Factor Iย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใตใใใŸใƒผใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01658http://nanbyodata.jp/ontology/NANDO_2200798
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_010/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100153
- skos:altLabel - "MPA" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019124http://nanbyodata.jp/ontology/NANDO_2200776
skos:prefLabel - "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž" + "Factor Iย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + "Hๅ› ๅญๆฌ ๆ็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#2200427 +
http://nanbyodata.jp/ontology/NANDO_2200791 (rdf:type owl:Class @@ -120493,79 +177917,79 @@

hasNotificationNumber3
- dcterms:description - "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒๅ…ˆ่กŒใ—ใ€ใใฎๅพŒๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ็™บ็—‡ใ™ใ‚‹ไธญๅฐๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅ‘จๅ›ฒใธใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚„ใ€ๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’ไผดใ†่ก€็ฎกๅค–่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใŒๅ…จ่บซใฎ็ตๅˆ็ต„็น”้–“่ณชใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไปฅๅ‰ใฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žallergic granulomatous angiitis (AGA)ใ€ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พคChurg-Strauss syndrome (CSS)ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200427NANDO:2200791
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_02_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "eosinophilic granulomatosis with polyangiitis" + "Factor H deficiency" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + "Factor Hย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใตใใใŸใƒผใˆใ„ใกใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01468http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6623
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_011/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100153http://nanbyodata.jp/ontology/NANDO_2200776
skos:altLabel - "EGPA" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015943http://purl.obolibrary.org/obo/MONDO_0012350
skos:prefLabel - "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡" + "Factor Hย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "3MCย ็—‡ๅ€™็พค" + @ja + "3ใˆใ‚€ใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200428 +
http://nanbyodata.jp/ontology/NANDO_2200792 (rdf:type owl:Class @@ -120573,72 +177997,79 @@

hasNotificationNumber12
- dcterms:description - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆRelapsing Polychondritis: RP๏ผ‰ใฏใ€่€ณไป‹ใ€้ผปใ€ๅ–‰้ ญๆฐ—็ฎก่ปŸ้ชจใชใฉใซ็”Ÿใ˜ใ‚‹ๅ†็™บๆ€งใ‹ใค้€ฒ่กŒๆ€งใฎ่ปŸ้ชจ็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถไปฅๅค–ใซใ€้–ข็ฏ€็‚Žใ€็œผ็—…ๅค‰ใ€ๅฟƒ่ก€็ฎก็—…ๅค‰ใชใฉใ‚’ๅ‘ˆใ—ใ€ไป–ใฎใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใชใ‹ใงใ‚‚ใ€ๅ–‰้ ญๆฐ—็ฎก็—…ๅค‰ใฏไธปใชๆญปๅ› ใจใชใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใจๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฎ†ใฉใฎๆ‚ฃ่€…ใฏไธญๅนดๆœŸไปฅ้™ใฎๆˆไบบใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ใฎๅ ฑๅ‘Šใ‚‚็จ€ใซใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200428NANDO:2200792
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_03_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "Relapsing Polychondritis" - @en
rdfs:label - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" - @ja
+ rdfs:label + "Malpuech-Michels-Mingarelli-Carnevale syndrome" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01758https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01887
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_03_012/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100154http://nanbyodata.jp/ontology/NANDO_2200776
+ skos:altLabel + "3MC syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019125http://purl.obolibrary.org/obo/MONDO_0017398
skos:prefLabel - "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž" + "3MCย ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200429 +
http://nanbyodata.jp/ontology/NANDO_2200793 (rdf:type owl:Class @@ -120646,67 +178077,62 @@

hasNotificationNumber23
- dcterms:description - "ๅผท็šฎ็—‡ใฏ็šฎ่†š็กฌๅŒ–ใ‚’ใฏใ˜ใ‚ใจใ—ใŸๅ…จ่บซ่‡“ๅ™จใฎ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ (SSc)ใฏใ€็šฎ่†š็—‡็Šถใฎไป–ใซ่‚บ็ทš็ถญ็—‡ใƒป่‚บ้ซ˜่ก€ๅœง็—‡ใ‚„่…Ž้šœๅฎณใ€ๆถˆๅŒ–ๅ™จ้šœๅฎณใชใฉๅ…จ่บซ่‡“ๅ™จใฎๅˆไฝต็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆ็•ฐใชใ‚Šๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ2ใคใซๅˆ†ใ‘ใ‚‹LeRoyใ‚‰ใฎๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใฏ่‡จๅบŠ็—‡็Šถใ‹ใ‚‰็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใ‚ˆใ‚Šไฝ“ๅนนๅดใซ้€ฒๅฑ•ใ™ใ‚‹โ€œdiffuse cutaneous SSc (d-SSc)โ€ใ€็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใพใงใฎๆœซๆขขๅดใซ้™ๅฑ€ใ™ใ‚‹โ€limited cutaneous SSc (l-SSc)โ€œใฎ๏ผ’็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200429NANDO:2200793
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_04_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "systemic sclerosis" + "MASP2 deficiency" @en
rdfs:label - "ๅผท็šฎ็—‡" + "MASP2ย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ‚€ใˆใƒผใˆใ™ใดใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_04_013/https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100155
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005100http://nanbyodata.jp/ontology/NANDO_2200776
skos:prefLabel - "ๅผท็šฎ็—‡" + "MASP2ย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - - - - + "Ficolin3ๆฌ ๆ็—‡" + @ja
http://nanbyodata.jp/ontology/nando#2200430 +
http://nanbyodata.jp/ontology/NANDO_2200794 (rdf:type owl:Class @@ -120714,79 +178140,69 @@

hasNotificationNumber24
- dcterms:description - "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…(mixed connective tissue disease๏ผšMCTD)ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰๏ผŒๅคš็™บ็ญ‹็‚Ž๏ผˆPM๏ผ‰๏ผŒๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSSc๏ผ‰ๆง˜ๆ‰€่ฆ‹ใฎๆททๅœจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใงใฏใ€SLEใƒปPMใƒปSScใใ‚Œใžใ‚Œใฎ่‡จๅบŠๆ‰€่ฆ‹ใŒๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใซๆŠ—U1-RNP (ribonucleoprotein)ๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใฎๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…ใงใฏSLEใƒปPMใƒปSScใฎ๏ผ“ใคๆ‰€่ฆ‹ใ‚’ๅ…จใฆ่ชใ‚ใ‚‹ใ“ใจใฏๅฐ‘ใชใใ€SLEๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒ้ซ˜ใใ€PMใƒปSScๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒๅฐ‘ใชใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200430NANDO:2200794
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_04_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label - "mixed connective tissue disease" + "Ficolin 3 Deficiency" @en
rdfs:label - "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" + "Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01710 + rdfs:label + "ใตใƒใ“ใ‚Šใ‚“3ใ‹ใ‚“ใ‚Œใ‚“ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_04_014/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100155http://nanbyodata.jp/ontology/NANDO_2200776
skos:altLabel - "MCTD" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005854
skos:prefLabel - "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…" + "Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200431 +
http://nanbyodata.jp/ontology/NANDO_2200795 (rdf:type owl:Class @@ -120794,67 +178210,98 @@

hasNotificationNumber14hasNotificationNumber26
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever: FMF๏ผ‰ใฏใ€ๆผฟ่†œ็‚Žใชใฉใ‚’ๅๅพฉใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ๏ผˆautoinflammatory diseases๏ผ‰ใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใจ้žๅ…ธๅž‹ไพ‹๏ผˆไธๅฎŒๅ…จๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏใ€ๆœˆใซ๏ผ‘ๅ›žใปใฉใฎ็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚็™บ็†ฑๆœŸ้–“ใฏ72ๆ™‚้–“ไปฅๅ†…ใงใ€็™บ็†ฑใซไผดใฃใฆๆฟ€ใ—ใ„่…น็—›ใ‹่ƒธ่ƒŒ้ƒจ็—›ใ‚’่จดใˆใ€้–ข็ฏ€็‚Žใฎไฝต็™บใฏไธ‹่‚ขใฎๅคง้–ข็ฏ€ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚้žๅ…ธๅž‹ไพ‹ใฏ็™บ็†ฑๆœŸ้–“ใŒๆ•ฐ้€ฑ้–“ใจ้•ทใใ€ใ•ใพใ–ใพใช้šไผด็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้–ข็ฏ€็‚Žใฎๅˆไฝตใฏ่‚˜้–ข็ฏ€ใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็†ฑๆ™‚ใซใฏใ€CRPใฏ10 mg/mlไปฅไธŠใจ้ซ˜ๅ€คใซใชใ‚‹ใ“ใจใŒๅคšใใ€็™บไฝœ้–“ๆฌ ๆœŸใซใฏๆญฃๅธธๅŒ–ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€็‚Ž็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹ๅˆ†ๅญ็พคใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฎไธญใงไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€่ฒฌไปป้บไผๅญMEFV (่›‹็™ฝใฏpyrin) ใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MEFV exon 10ๅค‰็•ฐ(M694Iใชใฉ)ใฏๅ…ธๅž‹ไพ‹ใซๅคšใใ€้žๅ…ธๅž‹ไพ‹ใงใฏexon 3ใฎP369S-R408Qๅค‰็•ฐใŒๆคœๅ‡บใ•ใ‚Œใ‚„ใ™ใ„ใ€‚ๆฒป็™‚ใฏใ„ใšใ‚Œใฎๅž‹ใ‚‚ๅฅฝไธญ็ƒๆฉŸ่ƒฝใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ‚ณใƒซใƒ’ใƒใƒณใŒๅคงๅคšๆ•ฐไพ‹ใงๅฅๅŠนใ™ใ‚‹ใ€‚" + "ๅฑ€ๆ‰€ๆ€งใง็ช็™บๆ€งใฎ่ก€็ฎกๆ€งๆตฎ่…ซใงใ‚ใ‚Šใ€้บไผๆ€งใซใŠใ“ใ‚‹ใ€‚" @ja
dcterms:identifier2200431NANDO:2200795
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_050_01.pdf
rdfs:label - "familiar Mediterranean fever" + "Hereditary angioedema" @en
rdfs:label - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" + "ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ‹ใ‚“ใ›ใ„ใตใ—ใ‚…" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00288http://nanbyodata.jp/ontology/NANDO_1200365
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_015/https://www.shouman.jp/disease/details/10_07_050/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156http://nanbyodata.jp/ontology/NANDO_2100209
+ skos:altLabel + "C1 inhibitor deficiency" + @en
+ skos:altLabel + "C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007361
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019623
skos:prefLabel - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ" + "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" @ja
- - + - - + + - + - + + "49ใŠใ‚ˆใณ50ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200432 +
http://nanbyodata.jp/ontology/NANDO_2200796 (rdf:type owl:Class @@ -120862,72 +178309,69 @@

hasNotificationNumber16hasNotificationNumber28
dcterms:description - "NLRP3้บไผๅญ(่›‹็™ฝๅ๏ผšcryopyrin๏ผŒใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณIL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚Šใ€ๅ‘จๆœŸๆ€งๆˆ–ใ„ใฏๆŒ็ถšๆ€งใซๅ…จ่บซใฎ็‚Ž็—‡ใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚" + "ไปฅไธ‹ใฎๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ไธปใช่‡จๅบŠๅƒใ‚’็คบใ™ใ€‚Factor B๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคFactor D๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Properidin๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Factor I๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H-related protein๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคThrombomodulin๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคMASP1๏ผš 3MC๏ผˆCarnevale, Mingarelli, Malpuech, Michels๏ผ‰็—‡ๅ€™็พค๏ผˆไธก็œผ้š”้›ขใ€็œผ็ƒˆ็‹ญๅฐใ€็ƒ็Šถ็œ‰ใ€็œผ็•ฐๅฝขใ€้ ญ่“‹้ชจ็™’็€ใ€ๅฃ่“‹่ฃ‚ใ€ๅ‰ๆˆฟๆฌ ๆ๏ผ‰ๆ˜“ๆ„ŸๆŸ“ๆ€งMASP2๏ผš ๅŒ–่†ฟ่Œๆ„ŸๆŸ“็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€็‚Ž็—‡ๆ€ง่‚บ็–พๆ‚ฃCOLEC11๏ผš 3MC็—‡ๅ€™็พคCR2๏ผˆCD21๏ผ‰ๆฌ ๆ็—‡๏ผšไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CR3ๆฌ ๆ็—‡๏ผš ็™ฝ่ก€็ƒ็ฒ˜็€ไธๅ…จ็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CD46ๆฌ ๆ็—‡๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๆ„ŸๆŸ“็—‡ใ€ๅญ็™‡ๅ‰็—‡CD59ๆฌ ๆ็—‡๏ผš ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€polyneuropathyFicolin3ๆฌ ๆ็—‡๏ผšๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่†ฟ็˜" @ja
dcterms:identifier2200432NANDO:2200796
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "cryopyrin-associated periodic syndrome" - @en
rdfs:label - "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" + "49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00282 + rdfs:label + "Other inherited deficiency of complement system" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_016/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016168http://nanbyodata.jp/ontology/NANDO_2100209
skos:prefLabel - "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค" + "49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "Bๅ› ๅญๆฌ ๆ็—‡" + @ja - - - - + "Factor B deficiency" + @en - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200433 +
http://nanbyodata.jp/ontology/NANDO_2200797 (rdf:type owl:Class @@ -120935,77 +178379,74 @@

hasNotificationNumber18
- dcterms:description - "้บไผๆ€งใฎๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็ญ‹่‚‰็—›ใ‚„็šฎ็–นใ‚’ไผดใ†ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰/ใ‚นใ‚ณใƒƒใƒˆใƒฉใƒณใƒ‰ใฎไธ€ๅฎถ็ณปใฎๅ ฑๅ‘Š(1982ๅนด)ใซๅง‹ใพใ‚Šใ€1999ๅนดใซโ… ๅž‹TNFๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€TRAPS(TNF receptor-associated periodic fever syndrome)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200433NANDO:2200797
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "TNF receptor-associated periodic fever syndrome" - @en
rdfs:label - "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=723
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00912 + rdfs:label + "ใณใƒผใ„ใ‚“ใ—ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_017/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156http://nanbyodata.jp/ontology/NANDO_2200796
+ skos:altLabel + "Factorย Bๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007727http://purl.obolibrary.org/obo/MONDO_0014255
skos:prefLabel - "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" + "Bๅ› ๅญๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - - - - - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200434 +
http://nanbyodata.jp/ontology/NANDO_2200798 (rdf:type owl:Class @@ -121013,105 +178454,67 @@

hasNotificationNumber20
- dcterms:description - "ไธปใจใ—ใฆ4ๆญณไปฅไธ‹ใฎๅฐๅ…ใซ็™บ็—‡ใ—ใ€้–ข็ฏ€็‚Žใƒปใถใฉใ†่†œ็‚Žใƒป็šฎ่†š็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏใ€ๆญดๅฒ็š„ใซ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น(Early-onset sarcoidosis; EOS, MIM#609464)ใจๅ‘ผใฐใ‚ŒใฆใใŸใ€‚ไธ€ๆ–นใ€1985ๅนดใ€EOSใจ้…ทไผผใ™ใ‚‹่‡จๅบŠๅƒใ‚’4ไธ–ไปฃใซๆธกใฃใฆๅ‘ˆใ™ใ‚‹ๅฎถ็ณปไพ‹ใŒBlauใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใฎ็–พๆ‚ฃใฏBlau็—‡ๅ€™็พค(MIM#186580)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚2001ๅนดใ€Blau็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆNOD2ใŒๅŒๅฎšใ•ใ‚Œใ€2005ๅนดใ€ๆœฌ้‚ฆEOS10ไพ‹ใฎ้บไผๅญ่งฃๆžใ‚ˆใ‚ŠEOSใซใŠใ„ใฆใ‚‚NOD2ใŒใใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒ้‡‘ๆพคใ‚‰ใซใ‚ˆใ‚Š่จผๆ˜Žใ•ใ‚ŒใŸใ€‚ไปŠๆ—ฅใงใฏใ€ไธก่€…ใฏๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€EOSใฏBlau็—‡ๅ€™็พคใฎๅญค็™บไพ‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200434NANDO:2200798
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "Blau syndrome, early onset sarcoidosis" + "Factor I deficiency" @en
rdfs:label - "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" + "Factor Iย ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใตใใใŸใƒผใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00285http://nanbyodata.jp/ontology/NANDO_2200790
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_018/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156
- skos:altLabel - "Blau syndrome" - @en
- skos:altLabel - "Blau็—‡ๅ€™็พค" - @ja
- skos:altLabel - "early onset sarcoidosis" - @en
- skos:altLabel - "่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008523
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012281http://nanbyodata.jp/ontology/NANDO_2200796
skos:prefLabel - "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค" + "Factor Iย ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + + "ใตใใใŸใƒผใˆใ„ใกใ‚Šใ‚Œใ„ใฆใƒใฃใฉใทใ‚ใฆใ„ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - +
http://nanbyodata.jp/ontology/nando#2200435 +
http://nanbyodata.jp/ontology/NANDO_2200799 (rdf:type owl:Class @@ -121119,62 +178522,62 @@

hasNotificationNumber19
- dcterms:description - "ๅนผๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใ€็™บ็†ฑใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‡็˜กๆง˜็šฎ็–น็™บ็—‡ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ€่„‚่‚ช็ต„็น”็‚Žใ‚’่ชใ‚ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค(Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome :CANDLE Syndrome), ใ‚ใ‚‹ใ„ใฏ้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž๏ผˆJoint contractures, Muscle atrophy, Microcytic Anemia, and Panniculitis Induced Lipodystrophy:JMP)ใจๅŒไธ€็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ใ‚’ๆง‹ๆˆใ™ใ‚‹20Sๆง‹ๆˆๅ› ๅญใฎไธญใฎPSMB8ใŒๅŒๅฎšใ•ใ‚Œใ€ใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–่›‹็™ฝ่ณชใŒ่“„็ฉใŒๆœฌ็—‡ใฎ็™บ็—‡ใซ้–ขใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณ่–ฌใŒๅฅๅŠŸใ›ใšใ€ไป–ใซๆœ‰ๅŠนใช่–ฌๅ‰คใŒใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200435NANDO:2200799
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
+ rdfs:label + "Factor H-related proteinๆฌ ๆ็—‡" + @ja
rdfs:label - "Nakajyo-Nishimura syndrome" + "complement factor H related protein 1 deficiency" @en
rdfs:label - "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_019/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156http://nanbyodata.jp/ontology/NANDO_2200796
skos:prefLabel - "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค" + "Factor H-related proteinๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - - - - - + - - + + - - + + - - + + - + - +
http://nanbyodata.jp/ontology/nando#2200436 +
http://nanbyodata.jp/ontology/NANDO_2200800 (rdf:type owl:Class @@ -121182,96 +178585,82 @@

hasNotificationNumber17
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎไปฃ่ฌ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€่‡จๅบŠ็š„็‰นๅพดใจใ—ใฆไนณๅ…ๆœŸใ‚ˆใ‚Š็™บ็—‡ใ—่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฎ‹ๅญ˜MKๆดปๆ€งใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๅฅ‡ๅฝขใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใฎ้‡ใ„็—‡็Šถใ‚’ไผดใ†ใƒกใƒใƒญใƒณ้…ธๅฐฟ็—‡ ((้…ต็ด ๆดปๆ€ง 1 %ๆœชๆบ€) ใจใ€ใ‚ใšใ‹ใซ้…ต็ด ๆดปๆ€งใŒๆฎ‹ๅญ˜ใ™ใ‚‹้ซ˜IgD็—‡ๅ€™็พค๏ผˆๅŒ1-10 %๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚1984ๅนดใซใ‚ชใƒฉใƒณใƒ€ไบบใฎๅฎถ็ณปใงๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFMF๏ผ‰ใจใ‚ˆใไผผใŸ่‡จๅบŠๅƒใ‚’็คบใ—ใชใŒใ‚‰ใ‚‚ใ€่ก€ๆธ…IgD้ซ˜ๅ€คใ‚„ใ€็™บไฝœๆ™‚ใฎใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€ไธ‹็—ขใชใฉใ„ใใคใ‹ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฎ้•ใ„ใ‹ใ‚‰ใ€FMFใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚ŒใŸใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนด่จบๆ–ญใ•ใ‚ŒใŸๆœฌ้‚ฆใงใฎ็—‡ไพ‹ใฏใ€ๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200436NANDO:2200800
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "hyper IgD syndrome" + "Thrombomodulin deficiency" @en
rdfs:label - "้ซ˜IgD็—‡ๅ€™็พค" + "Thrombomodulinๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6765 + rdfs:label + "ใจใ‚ใ‚“ใผใ‚‚ใ˜ใ‚…ใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_020/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7269
- skos:altLabel - "mevalonate kinase deficiency" - @en + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8065
- skos:altLabel - "ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009849 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200796
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012481http://purl.obolibrary.org/obo/MONDO_0013044
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017708http://purl.obolibrary.org/obo/MONDO_0013775
skos:prefLabel - "้ซ˜IgD็—‡ๅ€™็พค" + "Thrombomodulinๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - - - - - - - - - - - - - - - - - - - - - - - - - + - - + + - - - + + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200437 +
http://nanbyodata.jp/ontology/NANDO_2200801 (rdf:type owl:Class @@ -121279,122 +178668,79 @@

hasNotificationNumber15
- dcterms:description - "1997ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹็จ€ใช่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็„ก่Œๆ€งๅŒ–่†ฟๆ€ง้–ข็ฏ€็‚Žใ‚’่‡จๅบŠๅƒใฎไธปไฝ“ใจใ—ใ€ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใจๅ›Š่…ซๆ€งๅบง็˜กใ‚’ไผดใ†ไบ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200437NANDO:2200801
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "pyogenic arthritis, pyoderma gangrenosum, acne syndrome" + "CD21 deficiency" @en
rdfs:label - "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚Ž" + "CR2ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4263 + rdfs:label + "ใ—ใƒผใ‚ใƒผใ‚‹2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_021/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156
- skos:altLabel - "acne syndrome" - @en
- skos:altLabel - "pyoderma gangrenosum" - @en
- skos:altLabel - "pyogenic arthritis" - @en
- skos:altLabel - "ใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค" - @ja
- skos:altLabel - "ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡" - @jahttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8142
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004471 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011438
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200796
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011462 + skos:altLabel + "CD21ๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018824http://purl.obolibrary.org/obo/MONDO_0013862
skos:prefLabel - "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚Ž" + "CR2ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - - - - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200438 +
http://nanbyodata.jp/ontology/NANDO_2200802 (rdf:type owl:Class @@ -121402,77 +178748,62 @@

hasNotificationNumber21
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏ10ๆญณๅ‰ๅพŒใฎๅฐๅ…ใซๅฅฝ็™บใ™ใ‚‹้ชจใƒป้ชจ้ซ„ใฎ็„ก่Œๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€็–ผ็—›ใ‚’ไผดใ†้ชจ้ซ„็‚ŽใŒๅคš็™บใ—ใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŽŒ่น ่†ฟ็–ฑ็—‡ใ‚„ๅฐ‹ๅธธๆ€งไนพ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€SAPHO็—‡ๅ€™็พคใ‚‚้กžไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆ—ฉๆœŸ(2ๆญณๆœชๆบ€)ใซๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ‚’็™บ็—‡ใ—ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(ไฝŽ่‰ฒ็ด ๆ€งใ€ๅฐ็ƒๆ€ง่ฒง่ก€)ๅŠใณSweet็—‡ๅ€™็พคใชใฉใฎ็šฎ่†š็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใ‚’Majeed็—‡ๅ€™็พคใจๅ‘ผใถใ€‚Majeed็—‡ๅ€™็พคใฏLPIN2้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200438NANDO:2200802
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "chronic recurrent multifocal osteomyelitis" + "CR3 deficiency" @en
rdfs:label - "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" + "CR3ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2798
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01117 + rdfs:label + "ใ—ใƒผใ‚ใƒผใ‚‹3ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_022/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009813http://nanbyodata.jp/ontology/NANDO_2200796
skos:prefLabel - "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž" + "CR3ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200439 +
http://nanbyodata.jp/ontology/NANDO_2200803 (rdf:type owl:Class @@ -121480,72 +178811,79 @@

hasNotificationNumber13
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹IL-1ใจโ… ๅž‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใซๅฏพใ—ใฆ็ซถๅˆ้˜ปๅฎณใ™ใ‚‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆใฎๆฌ ๆใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑ็—‡ใƒป้ชจ้ซ„็‚Žใƒป้ชจ่†œ็‚ŽใŒไธป็—‡็Šถใจใชใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200439NANDO:2200803
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "deficiency of the interleukin-1-receptor antagonist" + "CD46 deficiency" @en
rdfs:label - "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡" + "CD46ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ—ใƒผใงใƒใƒผ46ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7241http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7265
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_023/https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156http://nanbyodata.jp/ontology/NANDO_2200796
+ skos:altLabel + "Membrane cofactor protein ๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013021http://purl.obolibrary.org/obo/MONDO_0013040
skos:prefLabel - "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡" + "CD46ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200440 +
http://nanbyodata.jp/ontology/NANDO_2200804 (rdf:type owl:Class @@ -121553,62 +178891,79 @@

hasNotificationNumber22
- dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber28
dcterms:identifier2200440NANDO:2200804
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label - "15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" + "CD59ๆฌ ๆ็—‡" @ja
rdfs:label - "Other autoinflammatory diseases" + "Primary CD59 deficiency" @en
+ rdfs:label + "ใ—ใƒผใงใƒใƒผ59ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7108
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100156http://nanbyodata.jp/ontology/NANDO_2200796
+ skos:altLabel + "Membrane attack complex inhibitorๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012858
skos:prefLabel - "15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ" + "CD59ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200441 +
http://nanbyodata.jp/ontology/NANDO_2200805 (rdf:type owl:Class @@ -121616,79 +178971,67 @@

hasNotificationNumber22
- dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CECR1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ADA2้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹/ๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™็™บ็†ฑใ€่”“็Šถ็šฎๆ–‘ใ‚„ใƒฌใ‚คใƒŽใƒผ็—‡็Šถ็ญ‰ใฎ็šฎ่†š็—‡็Šถใ€้บป็—บใ‚„็—บใ‚Œใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ€็œผ็—‡็Šถ๏ผˆไธญๅฟƒ้™่„ˆ้–‰ๅกžใ‚„่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็ฌฌ3่„ณ็ฅž็ตŒ้บป็—บใชใฉ๏ผ‰ใชใฉใ‚’ไธป็—‡็Šถใจใ—ใ€่ก€็ฎก็‚Žใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹้บไผๆ€งใฎ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žๆง˜็–พๆ‚ฃใจใ—ใฆ2014ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็™ฝ่ก€็ƒๆธ›ๅฐ‘ใ‚„่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃๆง˜็—‡็Šถใชใฉใ€ๅคšๅฝฉใช่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚ๅˆใ€ๅคšใใฎ็—‡ไพ‹ใฏๅญฆ็ซฅๆœŸใพใงใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅŒใ˜ๅค‰็•ฐใ‚’ๆŒใคๆ‚ฃ่€…ๅŒๅฃซใ€ใ•ใ‚‰ใซใฏๅŒใ˜ๅฎถ็ณปๅ†…ใฎๆ‚ฃ่€…ๅŒๅฃซใงใ‚‚็—‡็Šถใ‚„็™บ็—‡ๅนด้ฝขใซๅคงใใชๅทฎใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber18
dcterms:identifier2200441NANDO:2200805
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_08_052_01.pdf
rdfs:label - "Adenosine deaminase 2 deficiency" + "Hyper eosinophilic syndrome" @en
rdfs:label - "Adenosine deaminase 2ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9433 + rdfs:label + "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/10_08_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440
- skos:altLabel - "ADA2ๆฌ ๆ็—‡" - @jahttp://nanbyodata.jp/ontology/NANDO_2100210
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014306http://purl.obolibrary.org/obo/MONDO_0015691
skos:prefLabel - "Adenosine deaminase 2ๆฌ ๆ็—‡" + "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200442 +
http://nanbyodata.jp/ontology/NANDO_2200806 (rdf:type owl:Class @@ -121696,79 +179039,79 @@

hasNotificationNumber22hasNotificationNumber18
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅๅพฉๆ€งใฎๆฐด็–ฑ็—‡ใ€้–“่ณชๆ€ง่‚บ็‚Žใ€้–ข็ฏ€็‚Žใ€็‚Ž็—‡ๆ€ง็œผ็–พๆ‚ฃใ€่…ธ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€่‚บๅ‰ฏ้ผป่…”ๆ„ŸๆŸ“็—‡ใ‚’ไผดใ†่ปฝๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใ‚’็—‡็Šถใจใ™ใ‚‹PLGC2้บไผๅญ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚PLAIDใจ้•ใ„ใ€ๅฏ’ๅ†ท่•้บป็–นใฏไผดใ‚ใชใ„ใ€‚ใŸใ ใ—ใ€PLAIDใงๆฌ ๅคฑใ™ใ‚‹CๆœซSH2้ ˜ๅŸŸๅ†…ใซใ‚ใ‚‹p.Ser707Tyrๅค‰็•ฐใฎ๏ผ‘ๅฎถ็ณปใฎใฟใงใ‚ใ‚‹ใ€‚" + "ๆœซๆขข่ก€ไธญใฎๆˆ็†Ÿๅฅฝ้…ธ็ƒใŒ1500ๅ€‹/mm3ไปฅไธŠใซๅข—ๅŠ ใ—ใ€็ต„็น”ใซๆตธๆฝคใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚" @ja
dcterms:identifier2200442NANDO:2200806
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_08_052_01.pdf
rdfs:label - "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" + "Hypereosinophilic syndrome" @en
rdfs:label - "่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" + "ใจใใฏใคใ›ใ„ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8208https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01599
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/10_08_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440
- skos:altLabel - "APLAID" - @enhttp://nanbyodata.jp/ontology/NANDO_2200805
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013944http://purl.obolibrary.org/obo/MONDO_0015691
skos:prefLabel - "่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" + "็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "EGIDs" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200443 +
http://nanbyodata.jp/ontology/NANDO_2200807 (rdf:type owl:Class @@ -121776,69 +179119,86 @@

hasNotificationNumber22hasNotificationNumber18
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CARD14้บไผๅญใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹ๅฐ‹ๅธธๆ€งไนพ็™ฌใ‚„่†ฟ็–ฑๆ€งไนพ็™ฌใฎ่ฒฌไปป้บไผๅญใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ใพใŸใ€้กžไผผใฎ็–พๆ‚ฃใงใ‚ใ‚‹familial pityriasis rubra pilarisใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใ‚‚ๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚" + "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ๏ผˆEosinophilic gastrointestinal disorders, EGIDs๏ผ‰ใฏๅฅฝ้…ธ็ƒใฎๆถˆๅŒ–็ฎกๅฑ€ๆ‰€ใธใฎ็•ฐๅธธใช้›†็ฉใ‹ใ‚‰ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡ใซใ‚ˆใ‚Š็ต„็น”ใŒๅ‚ทๅฎณใ•ใ‚Œ๏ผŒๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้ƒจไฝใซใ‚ˆใ‚Šไธปใจใ—ใฆๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEosinophilic Esophagitis, EoE๏ผ‰๏ผŒ่ƒƒ่…ธ็‚Ž ๏ผˆEosinophilic Gastroenteritis, EGE๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใพใŸEoEใ‚’็–‘ใ‚ใ‚ŒใŸใŒใƒ—ใƒญใƒˆใƒณใƒใƒณใƒ—้˜ปๅฎณ่–ฌ๏ผˆPPI๏ผ‰ใซ่‰ฏๅฅฝใชๅๅฟœใ‚’็คบใ—ใŸๅ ดๅˆใฏproton-pump inhibitor (PPI)-responsive esophageal eosinophilia๏ผˆPPI-REE๏ผ‰ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200443NANDO:2200807
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_08_052_01.pdf
rdfs:label - "CARD14 deficiency" + "Eosinophilic gastrointestinal disorders" @en
rdfs:label - "Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡" + "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/http://nanbyodata.jp/ontology/NANDO_1200454
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_08_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2200805
skos:altLabel - "CARD14็•ฐๅธธ็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018438
skos:prefLabel - "Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡" + "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" @ja
- - + - - + + - + - + + "ใพใ‚“ใ›ใ„ใ‹ใคใฉใ†ใ›ใ„ใ„ใƒผใณใƒผใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200444 +
http://nanbyodata.jp/ontology/NANDO_2200808 (rdf:type owl:Class @@ -121846,72 +179206,81 @@

hasNotificationNumber22hasNotificationNumber40
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฑใƒซใƒ“ใ‚บใƒ ๏ผˆCherubism๏ผ‰ใฏใ€ไธŠ้กŽใพใŸใฏไธ‹้กŽใฎ้€ฒ่กŒๆ€ง็„ก็—›ๆ€งไธกๅดๆ€งๆ‹กๅคงใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใŠใ„ใฆ้ชจ่žๆ€ง็—…ๅค‰ใจ่ปŸ้ƒจ็ต„็น”ใฎ็ทš็ถญๆ€ง่ปŸ้ชจ็•ฐๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใฎ้Žๅ‰ฐๅๅฟœใซใ‚ˆใ‚Š็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณๅ‰้ง†ไฝ“ใ‚„็ ด้ชจ็ดฐ่ƒžๆ–ฐ็”Ÿใซ้–ขใ‚ใ‚‹ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็ ด้ชจ็ดฐ่ƒžใฎ็”ฃ็”ŸใŒไบข้€ฒใ—ใ€็‚Ž็—‡้ƒจไฝใซ็ ด้ชจ็ดฐ่ƒžใฏ้Žๅ‰ฐใซ้›†็ฉใ™ใ‚‹ใ“ใจใŒ่ƒŒๆ™ฏใซใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "้ทๅปถใ‚ใ‚‹ใ„ใฏๅ†็™บใ™ใ‚‹ไผๆŸ“ๆ€งๅ˜ๆ ธ็—‡(infectious mononucleosis;IM)ๆง˜็—‡็Šถใ‚’็คบใ—ใ€ๆœซๆขข่ก€ใŠใ‚ˆใณ็—…ๅค‰็ต„็น”ใซ้ซ˜ใƒฌใƒ™ใƒซใฎEBV DNAใŒๆคœๅ‡บใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚EBVๆ„ŸๆŸ“Tใ‚ใ‚‹ใ„ใฏNK็ดฐ่ƒžใŒใƒขใƒŽใ‚ฏใƒญใƒผใƒŠใƒซใ‚ใ‚‹ใ„ใฏใ‚ชใƒชใ‚ดใ‚ฏใƒญใƒผใƒŠใƒซใซๅข—ๆฎ–ใ—้ซ˜ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็—‡็Šถใจ้šœๅฎณ่‡“ๅ™จใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200444NANDO:2200808
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_09_053_01.pdf
rdfs:label - "Cherubism" + "chronic active EB virus infection" @en
rdfs:label - "ใ‚ฑใƒซใƒ“ใ‚บใƒ " - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=282 + rdfs:label + "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/10_09_053/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100211
+ skos:altLabel + "CAEBV" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007315http://purl.obolibrary.org/obo/MONDO_0009194
skos:prefLabel - "ใ‚ฑใƒซใƒ“ใ‚บใƒ " + "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" @ja
- - + - - + + - + - + + "Acquired immune deficiency syndrome" + @en + "ใ“ใ†ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200445 +
http://nanbyodata.jp/ontology/NANDO_2200809 (rdf:type owl:Class @@ -121919,62 +179288,81 @@

hasNotificationNumber22hasNotificationNumber19
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚" + "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค๏ผˆAIDS๏ผ‰ใฏใ€ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ€ๅŽš็”ŸๅŠดๅƒ็œใฏใ€ใ€Œใƒฌใƒˆใƒญใ‚ฆใ‚คใƒซใ‚นใฎไธ€็จฎใงใ‚ใ‚‹ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น๏ผˆhuman immunodeficiency virus๏ผ›HIV๏ผ‰ใฎๆ„ŸๆŸ“ใซใ‚ˆใฃใฆๅ…็–ซไธๅ…จใŒ็”Ÿใ˜ใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒๅˆไฝตใ—ใŸ็Šถๆ…‹ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚HIVใซๆ„ŸๆŸ“ใ—ใŸๅพŒใ€CD4้™ฝๆ€งใƒชใƒณใƒ‘็ƒๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€็„ก็—‡ๅ€™ๆ€งใฎๆ™‚ๆœŸ๏ผˆ็„กๆฒป็™‚ใง็ด„10ๅนด๏ผ‰ใ‚’็ตŒใฆ้ซ˜ๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใซ้™ฅใ‚Šใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒ็”Ÿใ˜ใฆใใ‚‹ใ€‚" @ja
dcterms:identifier2200445NANDO:2200809
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_10_054_01.pdf
rdfs:label - "IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Interleukin-10/interleukin-10 receptor deficiency" - @en
+ rdfs:label + "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/10_10_054/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100212
+ skos:altLabel + "AIDS" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012268
skos:prefLabel - "IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡" + "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200446 +
http://nanbyodata.jp/ontology/NANDO_2200810 (rdf:type owl:Class @@ -121982,62 +179370,72 @@

hasNotificationNumber22
- dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚" - @jahasNotificationNumber19
dcterms:identifier2200446NANDO:2200810
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_10_054_01.pdf
rdfs:label - "IL10 deficiency" + "HIV infection" @en
rdfs:label - "IL10ๆฌ ๆ็—‡" + "ใฒใจใ‚ใ‚“ใˆใใตใœใ‚“ใ†ใ„ใ‚‹ใ™" + @ja-Hira
+ rdfs:label + "ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01563
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_10_054/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200445http://nanbyodata.jp/ontology/NANDO_2200809
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005109
skos:prefLabel - "IL10ๆฌ ๆ็—‡" + "ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200447 +
http://nanbyodata.jp/ontology/NANDO_2200811 (rdf:type owl:Class @@ -122045,62 +179443,69 @@

hasNotificationNumber22hasNotificationNumber20
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚" + "ๅพŒๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š่ตทใใ‚‹ๅ…็–ซไธๅ…จ็—‡ใจใ€ๅพŒๅคฉ็š„ใซ็”ฃ็”Ÿใ•ใ‚Œใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใฏใ€ไฝ“็ดฐ่ƒžใซใŠใ‘ใ‚‹้บไผๅญๅค‰็•ฐใฎ่จผๆ˜Žใจใ€่‡ชๅทฑๆŠ—ไฝ“ใฎๆธฌๅฎšใซใ‚ˆใ‚‹ใ€‚ใ“ใ‚Œใพใงใซไปฅไธ‹ใฎ็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200447NANDO:2200811
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_10_055_01.pdf
rdfs:label - "IL-10RA deficiency" + "Phenocopies of primary immunodeficiency" @en
rdfs:label - "IL-10RAๆฌ ๆ็—‡" + "ใ“ใ†ใฆใ‚“ใฆใใชใ‚ใ‚“ใˆใใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใซใ‚ˆใ‚‹ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/10_10_055/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200445http://nanbyodata.jp/ontology/NANDO_2100212
skos:prefLabel - "IL-10RAๆฌ ๆ็—‡" + "ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200448 +
http://nanbyodata.jp/ontology/NANDO_2200812 (rdf:type owl:Class @@ -122108,62 +179513,81 @@

hasNotificationNumber22hasNotificationNumber39
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚" + "ๆ…ขๆ€งGVHDใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใฎๆ‚ฃ่€…ใซ็™บ็—‡ใ—ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใซ้กžไผผใ—ใŸๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ๅ†็™บใƒป็”Ÿๅญ˜็Ž‡ใจ็”Ÿๆดปใฎ่ณชใซๅคงใใ้–ข้€ฃใ™ใ‚‹ๆ™ฉๆœŸๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ๆ…ขๆ€งGVHDใซ็‰นๅพด็š„ใช่‡จๅบŠๆ‰€่ฆ‹ใซๅŸบใฅใ„ใŸNIH่จบๆ–ญๅŸบๆบ–ใ‚„้‡็—‡ๅบฆๅˆคๅฎšๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œใ€ๆ—ฅๆœฌ้€ ่ก€็งปๆคๅญฆไผšใงใฏ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ(GVHD)ใŒไฝœๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200448NANDO:2200812
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_11_056_01.pdf
rdfs:label - "IL-10RB deficiency" + "chronic graft-versus-host disease" @en
rdfs:label - "IL-10RBๆฌ ๆ็—‡" + "ใพใ‚“ใ›ใ„ใ„ใ—ใ‚‡ใใธใ‚“ใŸใ„ใ—ใ‚…ใใ—ใ‚…ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/10_11_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200445http://nanbyodata.jp/ontology/NANDO_2100213
+ skos:altLabel + "chronic GVHD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020547
skos:prefLabel - "IL-10RBๆฌ ๆ็—‡" + "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" @ja
- - + - - + + + + + + - + - + + "meningoencephalocele" + @en + "ใšใ„ใพใใฎใ†ใ‚Šใ‚…ใ†" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200449 +
http://nanbyodata.jp/ontology/NANDO_2200813 (rdf:type owl:Class @@ -122171,55 +179595,74 @@

hasNotificationNumber22hasNotificationNumber38
+ dcterms:description + "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใซใ‚ˆใฃใฆ้ ญ่“‹้ชจใซๆฌ ๆใŒ็”Ÿใ˜ใŸใ‚‚ใฎใ‚’ไบŒๅˆ†้ ญ่“‹ใจใ„ใ„ใ€ใ“ใฎ้ ญ่“‹ๆฌ ๆ้ƒจใ‹ใ‚‰้ ญ่“‹ๅ†…ๅฎนใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ—ๅšข่ƒžใ‚’ๅฝขๆˆใ—ใŸใ‚‚ใฎใ‚’่„ณ็˜คใจๅ‘ผใถใ€‚่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ซ„่†œ่„ณ็˜ค๏ผˆmeningoencephalocle๏ผ‰ใ€่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใš้ซ„่†œใ‚„้ซ„ๆถฒใฎใฟใงใ‚ใ‚Œใฐ้ซ„่†œ็˜ค๏ผˆcranial meningocele๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็ต„็น”ๅญฆ็š„ใชๆคœ็ดขใงใฏๅพŒ่€…ใงใ‚‚็˜คๅ†…ใซใฏ่„ณ็ต„็น”ใ‚’่ชใ‚ใ‚‹ใŸใ‚ใ€็ต„็น”ๅญฆ็š„ใซใฏๅŽณๅฏ†ใซ้‘‘ๅˆฅใงใใชใ„ใ€‚้ ญ่“‹ใฎๆฌ ๆใฏๆญฃไธญ้ƒจใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚็ด„90%ใฏ้ ญ่“‹ๅ††่“‹้ƒจใ€ๆฎ‹ใ‚Š็ด„10 %ใฏ้ ญ่“‹ๅบ•้ƒจใซ็™บ็”Ÿใ—ใ€ๅ…จไฝ“ใฎ2/3ใฏๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ—ใ€ๅ††่“‹้ƒจใ‚„้ผป่…”ๅ‰้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใฏๅค–่กจไธŠใง็˜คใ‚’่ชใ‚ใ‚„ใ™ใ„ใŒใ€็ฏฉ้ชจๆดžใ€่ถๅฝข้ชจๆดž้ƒจใชใฉ้ผป่…”ใ‚„ๅ‰ฏ้ผป่…”ๅ†…ใซ็™บ็”Ÿใ™ใ‚‹ใ‚‚ใฎใฏๅค–่กจไธŠใซใฏ็˜คใ‚’่ชใ‚ใชใ„ใ€‚ใพใ‚ŒใซๅพŒ้ ญใƒป้ šๆคŽ็งป่กŒ้ƒจใซ็™บ็”Ÿใ—้ šๆคŽๆคŽๅผ“ๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บ๏ผˆๅพŒ้ ญ้ƒจใจ่ƒŒ้ƒจใŒ็™’ๅˆใ—ใฆ้ š้ƒจใŒ่ƒŒๅดใซ้Žไผธๅฑ•ใ™ใ‚‹๏ผ‰ใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝข๏ผˆ่„ณๅนนใ‚„ๅฐ่„ณใฎ่„ฑๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใซใฏใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆ๏ผˆDandy-Walker็—‡ๅ€™็พค๏ผ‰ใ‚„ไป–ใฎ่„ณๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ‚„ใ™ใใ€่„ณ็ต„็น”ใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ™ใ‚‹ใŸใ‚ๅฐ้ ญ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€็ด„30%ใฎไพ‹ใซๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่„ณใฎๅฝขๆˆ็•ฐๅธธใ€ๅคงใใช่„ณ็ต„็น”ใฎ่„ฑๅ‡บใ€ๆฐด้ ญ็—‡ใชใฉใฏ็™บ้”ใ‚„็Ÿฅ่ƒฝ้ขใงใฎไบˆๅพŒไธ่‰ฏๅ› ๅญใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅบ•้ƒจ่„ณ็˜คใงใฏใ€้–‰ๅกžๆ€งใฎๅ‘ผๅธ้šœๅฎณใ€้ซ„ๆถฒๆผใซใ‚ˆใ‚‹ๅๅพฉๆ€งใฎ้ซ„่†œ็‚Žใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็˜คใŒ็ ดใ‚Œใฆ็ดฐ่Œๆ„ŸๆŸ“ใ‚’ใใŸใ™ใŸใ‚ๅค–็ง‘็š„ใซ็˜คใ‚’ไฟฎๅพฉใ—ใ€ๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚Œใฐ้ซ„ๆถฒใ‚ทใƒฃใƒณใƒˆใ‚’ๆ–ฝ่กŒใ—ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚Œใฐ่–ฌ็‰ฉๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝขใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏๅ›ฝใ€ๅœฐๅŸŸใซใ‚ˆใฃใฆๅคงใใ็•ฐใชใ‚Šใ€ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏ้ซ˜ใใชใใ€1๏ฝž2/10000ใจ่„Š้ซ„้ซ„่†œ็˜คใฎ1/5๏ฝž1/10ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไพ‹ใฏๅฅณๅ…ใซๅคšใ„ใ€‚้ซ„่†œ่„ณ็˜คใฎ็™บ็”ŸๆฉŸๅบใฏๅพ“ๆฅ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใจ่€ƒใˆใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ๅพŒใซ่„ณ็ต„็น”ใฎๅ‘จๅ›ฒใฎ้–“่‘‰็ต„็น”ใฎ็™บ็”Ÿ็•ฐๅธธใŒๅŽŸๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ๅพ“ๆฅใฎ่€ƒใˆใซๅพ“ใ„็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ็–พๆ‚ฃใฎ็ฏ„็–‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" + @ja
dcterms:identifier2200449NANDO:2200813
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_01_001_01.pdf
rdfs:label - "NAPS12" - @ja
rdfs:label - "NLRP12-associated periodic syndrome" - @en
+ rdfs:label + "้ซ„่†œ่„ณ็˜ค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/11_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100215
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017079
skos:prefLabel - "NAPS12" + "้ซ„่†œ่„ณ็˜ค" @ja
- - + - - + + + + + + - + - + + "myelomeningocele" + @en + "ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ†" + @ja-Hira + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200450 +
http://nanbyodata.jp/ontology/NANDO_2200814 (rdf:type owl:Class @@ -122227,72 +179670,84 @@

hasNotificationNumber22hasNotificationNumber39
+ dcterms:description + "่„Š้ซ„้ซ„่†œ็˜คใฏไบŒๅˆ†้ ญ่“‹ใ‚„็„ก่„ณ็—‡ใชใฉใจใจใ‚‚ใซ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใซๅŒ…ๆ‹ฌใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ™๏ผŽใƒ’ใƒˆใฎ่ƒŽๅ…ใงใฏ๏ผŒใใฎ่ƒŒๅดใซใ‚ใ‚‹ๅค–่ƒš่‘‰ใ‹ใ‚‰็ฅž็ตŒ็ฎกใŒๅฝขๆˆใ•ใ‚Œ๏ผŒใ“ใ‚ŒใŒ่„ณใƒป่„Š้ซ„ใธใจ็™บ้”ใ—ใฆใ„ใใพใ™๏ผŽ็ฅž็ตŒ็ฎกใŒๅฎŒๅ…จใช็ฎก็Šถๆง‹้€ ใซใชใ‚‹ใฎใฏๅ—็ฒพๅพŒ28ๆ—ฅใ”ใ‚ใจใ•ใ‚Œใฆใ„ใพใ™ใŒ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใŒ่ตทใ“ใ‚Šใ€่„Š้ซ„้ซ„่†œ็˜คใŒ็™บ็”Ÿใ—ใพใ™๏ผŽ๏ผˆๅ›ณ1๏ผ‰่„Š้ซ„้ซ„่†œ็˜คใฎๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€40ๅนดๅ‰ใฏ0.01~0.02%ใงใ—ใŸใŒๆœ€่ฟ‘ใงใฏ0.03~0.04%ใจๅข—ๅŠ ใ—ใฆใ„ใพใ™ใ€‚็ฌฌ1ๅญใŒ่„Š้ซ„้ซ„่†œ็˜คใงใ‚ใ‚‹ใจใ€็ฌฌ2ๅญใซใŠใ‘ใ‚‹ๆœฌ็—‡ใฎ็™บ็”Ÿ็Ž‡ใฏ็ด„5๏ผ…ใจใ•ใ‚ŒใฆใŠใ‚Š๏ผŒใใฎ็™บ็”Ÿใซใฏไฝ•ใ‚‰ใ‹ใฎ้บไผๅ› ๅญใฎ้–ขไธŽใŒๆŽจๅฏŸใ•ใ‚Œใพใ™๏ผŽ1) ไธ€ๆ–นใง๏ผŒๅฆŠๅจ ๅˆๆœŸใฎๅฆŠๅฉฆใซ่‘‰้…ธใ‚’ๆŠ•ไธŽใ™ใ‚‹ใจ๏ผŒไบŒๅˆ†่„ŠๆคŽใ‚’ๅซใ‚€็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็ด„70๏ผ…ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’่ปฝๆธ›ใงใใ‚‹ไบ‹ๅฎŸใ‹ใ‚‰๏ผŒๆฏไฝ“ใฎๆ „้คŠ็Šถๆ…‹ใƒปๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ•ใ‚‰ใซใฏๅ‚ฌๅฅ‡ๅฝขๆ€ง็‰ฉ่ณชใชใฉๅค–็š„่ฆๅ› ใฎ้–ขไธŽใ‚‚้‡่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™๏ผŽ2) ๅŽš็”ŸๅŠดๅƒ็œใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซใ€ๅฅๅธธใชๅฅณๆ€งใงใ‚‚ไธ่ถณใ—ใŒใกใช่‘‰้…ธใฎๆ‘‚ๅ–(0.4mg/day)ใ‚’ๅ‹งใ‚ใฆใ„ใพใ™ใ€‚" + @ja
dcterms:identifier2200450NANDO:2200814
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_01_002_01.pdf
rdfs:label - "DADA2" - @ja
rdfs:label - "deficiency of the enzyme ADA2" - @en
+ rdfs:label + "่„Š้ซ„้ซ„่†œ็˜ค" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9433http://nanbyodata.jp/ontology/NANDO_1200509
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/11_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100215
- skos:altLabel - "Adenosine deaminase 2 deficiency " - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017069
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014306http://purl.obolibrary.org/obo/MONDO_0019773
skos:prefLabel - "DADA2" + "่„Š้ซ„้ซ„่†œ็˜ค" @ja
- - + - - + + + + + + - + - + + "Spinal lipoma" + @en + "ใ›ใใšใ„ใ—ใผใ†ใ—ใ‚…" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200451 +
http://nanbyodata.jp/ontology/NANDO_2200815 (rdf:type owl:Class @@ -122300,55 +179755,74 @@

hasNotificationNumber22hasNotificationNumber37
+ dcterms:description + "่„Š้ซ„่„‚่‚ช่…ซใฏๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽใ‚’ไปฃ่กจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆๅฅ‡ๅฝข๏ผ‰ใงใ‚ใ‚‹๏ผŽ็šฎ่†šๅค–่ƒš่‘‰ใจ็ฅž็ตŒๅค–่ƒš่‘‰ใฎๅˆ†้›ข้šœๅฎณใซใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€ ็šฎไธ‹ใจ้€ฃ็ถšใ—ใŸ่„‚่‚ช็ต„็น”ใŒ่„ŠๆคŽ็ฎกๅ†…ใซไพตๅ…ฅใ™ใ‚‹๏ผŽ่…ฐไป™้ƒจใซๅฅฝ็™บใ™ใ‚‹๏ผŽ่„‚่‚ช่…ซใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่„Š้ซ„ๅœง่ฟซๅŠใณ็ฅž็ตŒ็ต„็น”็‰ฝๅผ•๏ผˆ่„Š้ซ„ไฟ‚็•™๏ผ‰ใซใ‚ˆใ‚Šใ€ ่†€่ƒฑ็›ด่…ธ้šœๅฎณ๏ผˆๆŽ’ๅฐฟใƒปๆŽ’ไพฟ้šœๅฎณ๏ผ‰ใŠใ‚ˆใณไธ‹่‚ข้šœๅฎณ๏ผˆ้‹ๅ‹•้šœๅฎณใƒปๆ„Ÿ่ฆš้šœๅฎณใƒป้–ข็ฏ€ๅค‰ๅฝข๏ผ‰็ญ‰ใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ ่„Š้ซ„่„‚่‚ช่…ซใฏ่ปŸ่†œไธ‹่„‚่‚ช่…ซใ€่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใ€่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใฏ็”ปๅƒๆ‰€่ฆ‹ใ‚’ใ‚‚ใจใซใ•ใ‚‰ใซๅˆ†้กžใ•ใ‚Œใ€ ่„Š้ซ„่„‚่‚ช้ซ„่†œ็˜คใ‚‚ๅซใพใ‚Œใ‚‹๏ผŽไธ€่ˆฌใซใ€่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆใฏ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅŠใณ่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใ‚’ๆŒ‡ใ™๏ผˆๅ›ณ1,2๏ผ‰๏ผŽ (ๅ›ฝๅ†…ใง่„Š้ซ„่„‚่‚ช่…ซใฏ้€šๅธธspinal lipomaใจ่‹ฑ่จณใ•ใ‚Œใ€lipomyelomenigoceleใฏ่„‚่‚ช้ซ„่†œ็˜คใจใ—ใฆไธŠ่ฟฐใ—ใŸ้€šใ‚Šใ€่„Š้ซ„่„‚่‚ช่…ซใฎไบœๅž‹ใ‚’ๆŒ‡ใ™๏ผŽ ใ—ใ‹ใ—ใ€ๆตทๅค–ใฎๆ–‡็Œฎใงใฏ่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆlipomyelomeningocele, lipomeingoceleใŒไฝฟ็”จใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ)ๅ›ณ1:่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅ›ณ2:่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซ" + @ja
dcterms:identifier2200451NANDO:2200815
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_01_003_01.pdf
rdfs:label - "PLCG2็•ฐๅธธ็—‡" - @ja
rdfs:label - "PLCg2 deficiency" - @en
+ rdfs:label + "่„Š้ซ„่„‚่‚ช่…ซ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/11_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100215
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001790
skos:prefLabel - "PLCG2็•ฐๅธธ็—‡" + "่„Š้ซ„่„‚่‚ช่…ซ" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200452 +
http://nanbyodata.jp/ontology/NANDO_2200816 (rdf:type owl:Class @@ -122356,62 +179830,74 @@

hasNotificationNumber22hasNotificationNumber55
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL36RNๆฌ ๆ็—‡ใฏใ€่‡จๅบŠ็š„ใซใฏๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใจ่จบๆ–ญใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ€ใใฎใ†ใกใฎไธ€้ƒจใฎๆ‚ฃ่€…ใซIL-36ๅ—ๅฎนไฝ“ใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚" + "ไป™้ชจใฎๅ…ˆ็ซฏใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ๅฅ‡ๅฝข่…ซใงใ€่‡€้ƒจใ‚ˆใ‚Šๅค–ๆ–นใธ็ชๅ‡บใพใŸใฏ้ชจ็›ค่…”ๅ†…ใƒป่…น่…”ๅ†…ใธ้€ฒๅฑ•ใ™ใ‚‹ใ€‚ๅ……ๅฎŸๆ€งใ‹ใ‚‰ๅšข่ƒžๆ€งใฎใ‚‚ใฎใพใงๆง˜ใ€…ใชๅฝขๆ…‹ใ‚’ใจใ‚‹ใ€‚" @ja
dcterms:identifier2200452NANDO:2200816
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_02_004_01.pdf
rdfs:label - "IL36RN deficiency" + "sacrococcygeal teratoma" @en
rdfs:label - "IL36RNๆฌ ๆ็—‡" + "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/11_02_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100216
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0042727
skos:prefLabel - "IL36RNๆฌ ๆ็—‡" + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" @ja
- - + - - + + - + - + + + + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200453 +
http://nanbyodata.jp/ontology/NANDO_2200817 (rdf:type owl:Class @@ -122419,86 +179905,79 @@

hasNotificationNumber22hasNotificationNumber66
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚Majeed็—‡ๅ€™็พคใฏใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž๏ผˆCRMO๏ผšchronic recurrent multifocal osteomyelitis๏ผ‰ใซๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€๏ผˆCDA๏ผšcongenital dyserythropoietic anemia๏ผ‰ใŠใ‚ˆใณ็šฎ็–น๏ผˆSweet็—‡ๅ€™็พคใพใŸใฏ่†ฟ็–ฑ็—‡๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" + "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใ‚„ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็•ฐๅฝขๆˆใ‚’ๅซใฟใ€็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ใจๅŒ็พฉใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200453NANDO:2200817
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_03_005_01.pdf
rdfs:label - "Majeed syndrome" + "lissencephaly" @en
rdfs:label - "Majeed็—‡ๅ€™็พค" + "ใ‹ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆป‘่„ณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6592https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00268
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/11_03_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440
- skos:altLabel - "Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutropilic dermatosis" - @en
- skos:altLabel - "MJDS" - @enhttp://nanbyodata.jp/ontology/NANDO_2100217
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012316http://purl.obolibrary.org/obo/MONDO_0018838
skos:prefLabel - "Majeed็—‡ๅ€™็พค" + "ๆป‘่„ณ็—‡" @ja
- - + - - + + - + - + + "schizencephaly" + @en + "ใ‚Œใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200454 +
http://nanbyodata.jp/ontology/NANDO_2200818 (rdf:type owl:Class @@ -122506,62 +179985,84 @@

hasNotificationNumber22hasNotificationNumber72
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใฏใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค๏ผˆcryopyrin-associated periodic syndrome๏ผšCAPS๏ผ‰ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšNLRP3ใ€MEFVใ€TNFRSF1Aใ€MVK้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—‡ไพ‹ใซใ€2008ๅนดNLRP12้บไผๅญใซใƒ˜ใƒ†ใƒญๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹๏ผˆfamilial cold autoinflammatory syndrome๏ผšFCAS2๏ผ‰ใ€ใ‚ใ‚‹ใ„ใฏNAPS12๏ผˆNLRP12-associated periodic syndrome๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๅคง่„ณ็šฎ่ณชใŒ่„ณๅฎคใซๅˆฐ้”ใ—๏ผŒใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸๅ…ˆๅคฉ็š„ใช่„ณๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใฎ็šฎ่ณชใฏๅคšๅฐ่„ณๅ›žใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคšๅฐ่„ณๅ›žใ‚’ไผดใ‚ใšใ€ใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸ็Šถๆ…‹ใ‚’ๅญ”่„ณ็—‡ใจใ‚ˆใณๅŒบๅˆฅใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€็™บ็”Ÿๆ™‚ๆœŸใฎ้•ใ„ใง็—…ๆ…‹ใฏๅ…ฑ้€šใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚็•ฐๅธธ้–“้š™ใจใ—ใฆ้ซ„ๆถฒ่…”ใ‚’ๆ˜Žใ‚‰ใ‹ใซ่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’โ€open lipโ€๏ผŒ้–“้š™ใŒ้–‰ใ˜ใฆ้ซ„ๆถฒ่…”ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’โ€closed lipโ€ใจใ‚ˆใถใ€‚" @ja
dcterms:identifier2200454NANDO:2200818
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_03_006_01.pdf
rdfs:label - "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" - @ja
rdfs:label - "NLRP12-associated periodic syndrome" - @en
+ rdfs:label + "่ฃ‚่„ณ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2994
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01160
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100217
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010011
skos:prefLabel - "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค" + "่ฃ‚่„ณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200455 +
http://nanbyodata.jp/ontology/NANDO_2200819 (rdf:type owl:Class @@ -122569,79 +180070,79 @@

hasNotificationNumber22hasNotificationNumber68
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅฏ’ๅ†ท่ช˜็™บ่•้บป็–นใ‚’ไธป็—‡็Šถใจใ—ใฆใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃ๏ฝฅใ‚ขใƒฌใƒซใ‚ฎใƒผ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚Phospholipase Cg2๏ผˆPLCG2๏ผ‰้บไผๅญใฎ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" + "็ฅž็ตŒ็ฎกใฎ่…นๅดๅŒ–้šœๅฎณใซใ‚ˆใ‚Šๅทฆๅณใฎๅคง่„ณๅŠ็ƒ๏ผˆๅ‰่„ณ๏ผ‰ใŒๅˆ†้›ขไธๅ…จใ‚’็”Ÿใ˜๏ผŒๆญฃไธญ้ƒจใงๅคง่„ณ็šฎ่ณชใƒปๅŸบๅบ•ๆ ธใƒป่ฆ–ๅบŠใฎ็™’ๅˆใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚่„ณ่‘‰ๅฝขๆˆใฎ็จ‹ๅบฆใซใ‚ˆใ‚Š็„กๅˆ†่‘‰alobar,ๅŠๅˆ†่‘‰semilobar,ๅˆ†่‘‰lobarใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200455NANDO:2200819
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_03_007_01.pdf
rdfs:label - "PLCG2-associated antibody deficiency and immune dysregulation" + "holoprosencephaly" @en
rdfs:label - "ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" + "ใœใ‚“ใœใ‚“ใฎใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…จๅ‰่„ณ่ƒž็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8049https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00267
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/11_03_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440
- skos:altLabel - "PLAID" - @enhttp://nanbyodata.jp/ontology/NANDO_2100217
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013766http://purl.obolibrary.org/obo/MONDO_0016296
skos:prefLabel - "ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡" + "ๅ…จๅ‰่„ณ่ƒž็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200456 +
http://nanbyodata.jp/ontology/NANDO_2200820 (rdf:type owl:Class @@ -122649,62 +180150,98 @@

hasNotificationNumber22hasNotificationNumber71
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚RBCK1ๆฌ ๆ็—‡ใฏใ€็นฐใ‚Š่ฟ”ใ™็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ถ™็ถšใ™ใ‚‹็‚Ž็—‡็—…ๆ…‹ใ€็ญ‹๏ฝฅๅฟƒ็ญ‹๏ฝฅ่‚่‡“ใซ็›ด้Ž–ไธŠใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใฎใŸใ‚ใ€ๅฟƒ็ญ‹้šœๅฎณใ€็ญ‹้šœๅฎณใ‚’ใใŸใ™ใ€‚NF-kBๆดปๆ€งๅŒ–ใซ้–ขใ‚ใ‚‹ใ€LUBAC(linear ubiquitin chain assembly)ใฎไธ€ๆง‹ๆˆๅˆ†ๅญใงใ‚ใ‚‹RBCK1้บไผๅญใฎๆฉŸ่ƒฝๅ–ชๅคฑใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚" + "้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ3็—‡็Šถใ‚’ใใŸใ™ๅ…ธๅž‹ไพ‹ใฏ30%ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200456NANDO:2200820
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_03_008_01.pdf
rdfs:label - "RBCK1 deficiency" + "septo-optic dysplasia" @en
rdfs:label - "RBCK1ๆฌ ๆ็—‡" + "ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/http://nanbyodata.jp/ontology/NANDO_1200561
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1408
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100217
+ skos:altLabel + "De Morsier syndrome" + @en
+ skos:altLabel + "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008428
skos:prefLabel - "RBCK1ๆฌ ๆ็—‡" + "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200457 +
http://nanbyodata.jp/ontology/NANDO_2200821 (rdf:type owl:Class @@ -122712,62 +180249,91 @@

hasNotificationNumber22hasNotificationNumber70
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚SLC29A3็•ฐๅธธ็—‡ใฏใ€SLC29A3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒฉใƒ–ๅฎถ็ณปใ‚’ไธญๅฟƒใซใ€SLC29A3ๅค‰็•ฐใŒๅŽŸๅ› ใงใ€้ ญๆ–‡ๅญ—ใŒHใงๅง‹ใพใ‚‹ใ€่‰ฒ็ด ้Žๅ‰ฐ็—‡ (Hyperpigmentation), ๅคšๆฏ›็—‡ (Hypertrichosis), ่‚่„พ่…ซ (Hepatosplenomegaly), ๅฟƒๅฅ‡ๅฝข (Heart anomalies), ้›ฃ่ด (Hearing loss), ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ (Hypogonadism), ไฝŽ่บซ้•ท (low Height), ้ซ˜่ก€็ณ– (Hyperglycemia)ใจใ„ใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹H็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€่‡ชๅทฑ็‚Ž็—‡็—‡็Šถใ‚’ๆœ‰ใ—ใ€H็—‡ๅ€™็พคใจๅ…ฑ้€šใฎ็šฎ่†š็—‡็Šถใ‚’ๅ‘ˆใ—ใŸๅฐๅ…ใงSLC29A3ๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€ใ“ใฎ้บไผๅญๅค‰็•ฐใ‚‚่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎๅŽŸๅ› ใจใชใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚" + "็ฌฌ4่„ณๅฎคใจ้€ฃ็ถšใ—ใŸๅพŒ้ ญ่“‹็ชฉๆญฃไธญใฎๅšข่ƒžใจๅฐ่„ณ่™ซ้ƒจใฎๅฎŒๅ…จใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆฌ ๆใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉ็š„็—…ๅค‰ใงใ™ใ€‚ๅฐ่„ณใƒ†ใƒณใƒˆใ€้™่„ˆๆดžไบคไผšใ‚„ๆจช้™่„ˆๆดžใฎๆŒ™ไธŠใ‚’ไผดใ„ใพใ™ใ€‚" @ja
dcterms:identifier2200457NANDO:2200821
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_03_009_01.pdf
rdfs:label - "SLC29A3 deficiency" + "Dandy-Walker syndrome" @en
rdfs:label - "SLC29A3็•ฐๅธธ็—‡" + "ใ ใ‚“ใงใƒใƒผใƒปใ†ใ‰ใƒผใ‹ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2052
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01678
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100217
+ skos:altLabel + "Dandy-Walker็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009072
skos:prefLabel - "SLC29A3็•ฐๅธธ็—‡" + "ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200458 +
http://nanbyodata.jp/ontology/NANDO_2200822 (rdf:type owl:Class @@ -122775,62 +180341,79 @@

hasNotificationNumber22hasNotificationNumber69
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚TNFAIP3้บไผๅญใซใ‚ˆใ‚Šใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹ๅˆ†ๅญA20ใฏใ€tumor necrosis factor (TNF) โ€“ nuclear factor (NF)-ฮบB็ตŒ่ทฏใ‚’ๆŠ‘ๅˆถ็š„ใซ่ชฟ็ฏ€ใ™ใ‚‹ๅˆ†ๅญใงใ‚ใ‚‹ใ€‚2015ๅนด12ๆœˆใซTNFAIP3้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง่‹ฅๅนด็™บ็—‡ใ™ใ‚‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ๆง˜ใฎ็–พๆ‚ฃใจใ—ใฆA20ใƒใƒ—ใƒญไธๅ…จ็—‡(HA20)ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚A20ใซใฏNๆœซ็ซฏ้ ˜ๅŸŸใฎovarian tumor (OTU)ใƒ‰ใƒกใ‚คใƒณใจCๆœซ็ซฏ้ ˜ๅŸŸใซ7ใคใฎzinc finger(ZF)ใƒ‰ใƒกใ‚คใƒณใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚ŒTNF-ฮฑใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซใŠใ„ใฆRIP1ใฎK63ใƒใƒชใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’่„ฑใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–ใ™ใ‚‹ไฝœ็”จใจใ€4็•ช็›ฎใฎZFใŒreceptor interacting protein kinase 1 (RIP1)ใซK48ใƒใƒใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’ไป˜ๅŠ ใ™ใ‚‹ใ“ใจใงใ€ใƒ—ใƒญใƒ†ใ‚ขใƒผใ‚ผใซใ‚ˆใ‚Šๅˆ†่งฃใ™ใ‚‹ไฝœ็”จใ‚’ๆŒใคใ€‚ใพใŸใ€7็•ช็›ฎใฎZFใŒ็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใจ็ตๅˆใ™ใ‚‹ใ“ใจใงใ€ใƒชใ‚ฌใƒณใƒ‰ๅˆบๆฟ€ใซใ‚ˆใ‚Šๅคš้‡ไฝ“ใ‚’ๅฝขๆˆใ—ใ‚ˆใ†ใจใ™ใ‚‹TNFๅ—ๅฎนไฝ“่ค‡ๅˆไฝ“ใจใ€ใใ“ใซไผšๅˆใ™ใ‚‹linear ubiquitin chain assembly complex (LUBAC)ใ‚„inhibitor of NF-ฮบB kinase (IKK)่ค‡ๅˆไฝ“ใชใฉใฎNF-ฮบBๆดปๆ€งๅŒ–ๅˆ†ๅญใฎ่งฃ้›ขใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ใ“ใฎ3ใคใฎไฝœ็”จใซใ‚ˆใฃใฆใ€TNF - NF-ฮบB็ตŒ่ทฏใซๅฏพใ—ใฆๆŠ‘ๅˆถ็š„ใซๅƒใใ“ใจใซใชใ‚‹ใ€‚HA20ๆ‚ฃ่€…ใงใฏใ€A20ใฎใƒใƒ—ใƒญไธๅ…จใซใ‚ˆใฃใฆใ€ใ‚ทใ‚ฐใƒŠใƒซไผ้”ๆŠ‘ๅˆถๅŠนๆžœใŒๆธ›ๅผฑใ™ใ‚‹ใ“ใจใŒไธป่ฆใช่ฆๅ› ใจใชใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ…จ่บซๆ€งใฎ็‚Ž็—‡็—…ๆ…‹(ใ™ใชใ‚ใก่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ)ใ‚’็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๆฐด้ ญ็—‡ใฏไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ ญ่“‹ๅ†…๏ผˆ่„ณๅฎคใ€ใใ‚‚่†œไธ‹่…”ใชใฉ๏ผ‰ใซ้Žๅ‰ฐใช้ซ„ๆถฒใŒ่ฒฏ็•™ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™๏ผŽ้€šๅธธใฏ่„ณๅฎคๆ‹กๅคงใ‚’ไผดใ†ใŒใ€่„ณ่กจใใ‚‚่†œไธ‹่…”ไธปไฝ“ใซ้ซ„ๆถฒใŒ่ฒฏ็•™๏ผˆๅค–ๆฐด้ ญ็—‡๏ผ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ซ„ๆถฒ่ฒฏ็•™ใซไผดใ„้ ญ่“‹ๅ†…ๅœงไบข้€ฒใซ็”ฑๆฅใ™ใ‚‹ๅ„็จฎ็—‡็Šถใƒปๅ…†ๅ€™ใ‚’ไผดใ†๏ผŽๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ใฏใ€ๆฐด้ ญ็—‡ใฎไธญใงใ‚‚่ƒŽๅ…ๆœŸใซ็™บ็—‡ใ—่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ€ใŠใ‚ˆใณ่ƒŽๅ…ๆœŸใซ็™บ็”Ÿใ—ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ‚’ๆŒ‡ใ™๏ผŽใ“ใฎไธญใซใฏไบŒๅˆ†้ ญ่“‹ใƒป่„Š้ซ„้ซ„่†œ็˜คใƒปๅ…จๅ‰่„ณ่ƒž็—‡ใชใฉไป–ใฎๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใƒป็—‡ๅ€™็พคใซไผดใฃใŸใ‚‚ใฎใจใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒไธๆ˜Žใช็‰น็™บๆ€งๆฐด้ ญ็—‡๏ผˆ้บไผๆ€งๆฐด้ ญ็—‡ใƒปๆฐด็„ก่„ณ็—‡ใƒป6q deletion็—‡ๅ€™็พคใชใฉใฎๆŸ“่‰ฒไฝ“็•ฐๅธธใซไผดใ†ใ‚‚ใฎใชใฉ๏ผ‰ใ‚’ๅซใ‚€๏ผŽ" @ja
dcterms:identifier2200458NANDO:2200822
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_03_010_01.pdf
rdfs:label - "A20 haploinsufficiency" + "congenital hydrocephalus" @en
rdfs:label - "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ™ใ„ใจใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01677
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100217
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016349
skos:prefLabel - "A20ใƒใƒ—ใƒญไธๅ…จ็—‡" + "ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200459 +
http://nanbyodata.jp/ontology/NANDO_2200823 (rdf:type owl:Class @@ -122838,79 +180421,86 @@

hasNotificationNumber22hasNotificationNumber67
dcterms:description - "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRC4็•ฐๅธธ็—‡ใฏใ€NLRC4ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็‚Ž็—‡ใ‚’ไธป็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ไฝ“็ดฐ่ƒžใƒขใ‚ถใ‚คใ‚ฏใฎ็—‡ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใฏใ€ๅคง้ ญใซๅŠ ใˆใฆๅคšๅฐ่„ณๅ›žใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€้Žๆˆ้•ทใ€ๆŒ‡่ถพๅฅ‡ๅฝขใ€็ตๅˆ็ต„็น”็•ฐๅธธใชใฉใ‚’่ชใ‚ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนด็—‡ๅ€™็พคใจใ—ใฆ่ช่ญ˜ใ•ใ‚Œใ€2012ๅนดใซ็ดฐ่ƒžๅข—ๆฎ–ใซ้–ขไธŽใ™ใ‚‹mTORใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใŒ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚Œใฆใ‹ใ‚‰ๅ ฑๅ‘Šไพ‹ใŒๆ€ฅๅข—ใ—ใฆใ„ใ‚‹ใ€‚ๅทจ่„ณใซใ‚ˆใ‚Šใ€้ ญๅ›ฒใŒๆ‹กๅคงใ™ใ‚‹ใ ใ‘ใงใชใใ€ๅฐ่„ณๆ‰ๆกƒไธ‹ๅž‚ใซใ‚ˆใ‚‹ๆฐด้ ญ็—‡ใ‚„่„Š้ซ„็ฉบๆดž็—‡ใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚Šใ€ๆ™‚ใซๆ‰‹่ก“ใ‚’่ฆใ™ใ‚‹ใ€‚ใพใŸใ€ๅคšๅฐ่„ณๅ›žใชใฉใ€่„ณๅฎŸ่ณชใฎๅค‰ๅŒ–ใ‚’ๆฅใŸใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏMacrocephaly-cutis marmorata telangiectasia congenitaใฎ็—…ๅใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹็šฎ่†š็—…ๅค‰ใฏๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚Šใ€ๅคง็†็Ÿณๆง˜็šฎๆ–‘ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใŒๆญฃ็ขบใซ็—…ๆ…‹ใ‚’่กจใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200459NANDO:2200823
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_06_05_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_03_011_01.pdf
rdfs:label - "Familial cold autoinflammatory syndrome 4" + "Megalencephaly-capillary malformation syndrome" @en
rdfs:label - "NLRC๏ผ”็•ฐๅธธ็—‡" + "ใใ‚‡ใฎใ†ใ—ใ‚‡ใ†๏ผใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใใ‘ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8810http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4061
rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_024/https://www.shouman.jp/disease/details/11_03_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200440http://nanbyodata.jp/ontology/NANDO_2100217
skos:altLabel - "FCAS4" + "Megalencephaly-capillary malformation-polymicrogyria" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014498http://purl.obolibrary.org/obo/MONDO_0011240
skos:prefLabel - "NLRC๏ผ”็•ฐๅธธ็—‡" + "ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "Joubert syndrome related disorders" + @en - - - - + "ใ˜ใ‚…ในใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200460 +
http://nanbyodata.jp/ontology/NANDO_2200824 (rdf:type owl:Class @@ -122918,77 +180508,81 @@

hasNotificationNumber1hasNotificationNumber21
dcterms:description - "็ณ–ๅฐฟ็—…ใฏใ€ใ‚คใƒณใ‚นใƒชใƒณใฎๅˆ†ๆณŒไธๅ…จใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ€ใ‚ใ‚‹ใ„ใฏใใฎไธก่€…ใซใ‚ˆใ‚‹ๆ…ขๆ€ง็š„ใช้ซ˜่ก€็ณ–ใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ไปฃ่ฌ็•ฐๅธธใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฏใ€่†ตฮฒ็ดฐ่ƒžใฎ็ ดๅฃŠใซใ‚ˆใ‚‹ๅ†…ๅ› ๆ€งใ‚คใƒณใ‚นใƒชใƒณไธ่ถณใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€้€šๅธธใฏ็ตถๅฏพ็š„ใชใ‚คใƒณใ‚นใƒชใƒณๆฌ ไนใซ้™ฅใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฎๆฒป็™‚ใฎๅŸบๆœฌใฏใ€ใ‚คใƒณใ‚นใƒชใƒณ่ฃœๅ……็™‚ๆณ•ใงใ‚ใ‚‹ใ€‚" + "ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏใ€1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž(่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†)ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พคใฏใ€1969ๅนดใซJoubertใŒใƒ•ใƒฉใƒณใ‚น็ณปใ‚ซใƒŠใƒ€ไบบใฎๅฎถๆ—ใซ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ‘ผๅธ็•ฐๅธธใ€็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ€ๅฐ่„ณ่™ซ้ƒจไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ๅˆใ‚ใฆๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒไธ–็•Œใง100ไพ‹ไปฅไธŠใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ใ“ใฎๆœฌๆฅใฎJoubert็—‡ๅ€™็พคใซ่…Ž้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใชใฉใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใ€Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200460NANDO:2200824
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_07_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_04_012_01.pdf
rdfs:label - "1ๅž‹็ณ–ๅฐฟ็—…" - @ja
rdfs:label - "Diabetes mellitus type 1" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2084
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00408 + rdfs:label + "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_001/https://www.shouman.jp/disease/details/11_04_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100158http://nanbyodata.jp/ontology/NANDO_2100218
+ skos:altLabel + "Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009100http://purl.obolibrary.org/obo/MONDO_0015369
skos:prefLabel - "1ๅž‹็ณ–ๅฐฟ็—…" + "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" @ja
- - + - - + + - + - + + "Rett syndrome" + @en + "ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200461 +
http://nanbyodata.jp/ontology/NANDO_2200825 (rdf:type owl:Class @@ -122996,82 +180590,91 @@

hasNotificationNumber6hasNotificationNumber81
dcterms:description - "ๆ—ฅๆœฌไบบๅฐๅ…2ๅž‹็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใฎ็ด„70๏ฝž80๏ผ…ใฏใ€่จบๆ–ญๆ™‚ใซ่‚ฅๆบ€ใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆˆไบบใฎ็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใงใฏใ€ใ‚ใพใ‚Š่‚ฅๆบ€ใฏ้ก•่‘—ใงใฏใชใ„ใ€‚ใคใพใ‚Šใ€่ฟ‘ๅนดใ€ๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ๅพ“ๆฅใ‹ใ‚‰ๆ—ฅๆœฌไบบใงใฟใ‚‰ใ‚Œใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใจ็—…ๅ› ใƒป็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚่‚ฅๆบ€ใ‚’ไผดใ†ๅฐๅ…2ๅž‹ใงใฏใ€ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใŒใ‚ใ‚Šใ€ใใ‚Œใซไผดใฃใฆใ‚ขใƒ‡ใ‚ฃใƒใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎๅˆ†ๆณŒ็•ฐๅธธใŒ่ตทใใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใŒ้ซ˜ใพใ‚‹ใ“ใจใŒใ€ไธป่ฆใช็—…ๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใจใใ‚Œใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใฎๅข—ๅคงใ‚’ไธญๅฟƒใจใ—ใŸไปฃ่ฌ็•ฐๅธธใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใจใ—ใฆ็พๅœจใ€ๅบƒใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่จ€ใ„ๆ›ใˆใ‚‹ใจใ€่ฟ‘ๅนดๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใ‚’ๅŸบ็คŽใซใ—ใฆ้€ฒ่กŒใ—ใŸ็ณ–ๅฐฟ็—…ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใŸใ ใ—ใ€20๏ฝž30๏ผ…ใฎๆ‚ฃ่€…ใงใฏ่‚ฅๆบ€ใ‚’ไผดใฃใฆใŠใ‚‰ใšใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใจใ„ใ†ใ‚ˆใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใฎไฝŽไธ‹ใ‚’ไธปไฝ“ใจใ™ใ‚‹็พคใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎ็พคใงใฏใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’ไฟƒใ™็ตŒๅฃ่ก€็ณ–้™ไธ‹่–ฌใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚" + "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚" @ja
dcterms:identifier2200461NANDO:2200825
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_07_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_05_013_01.pdf
rdfs:label - "2ๅž‹็ณ–ๅฐฟ็—…" - @ja
rdfs:label - "Diabetes mellitus type 2" - @en
+ rdfs:label + "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=436http://nanbyodata.jp/ontology/NANDO_1200603
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00409http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3558
rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_002/https://www.shouman.jp/disease/details/11_05_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100158http://nanbyodata.jp/ontology/NANDO_2100219
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007452 + skos:altLabel + "Rett็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007455http://purl.obolibrary.org/obo/MONDO_0010726
skos:prefLabel - "2ๅž‹็ณ–ๅฐฟ็—…" + "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200462 +
http://nanbyodata.jp/ontology/NANDO_2200826 (rdf:type owl:Class @@ -123079,86 +180682,91 @@

hasNotificationNumber4hasNotificationNumber24
dcterms:description - "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… (ไปฅไธ‹MODY) ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใง็™บ็—‡ใ™ใ‚‹่‹ฅๅนด็ณ–ๅฐฟ็—…ใงใ‚ใ‚Šใ€็ณ–ไปฃ่ฌใซ้–ขใ‚ใ‚‹ๅ˜ไธ€้บไผๅญใฎๆฉŸ่ƒฝ้šœๅฎณ๏ผˆ้บไผๅญๅค‰็•ฐใ€้บไผๅญๅ…จไฝ“ ใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎๆฌ ๅคฑใชใฉใซใ‚ˆใ‚‹๏ผ‰ใŒๅŽŸๅ› ใจใชใฃใฆ็ณ–ๅฐฟ็—…ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏไปŠๆ—ฅใพใงใซ13็จฎ้กžใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅŽŸๅ› ไธๆ˜ŽใฎMODYXใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "Tuberous sclerosis(็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡)ใซ้–ขใ™ใ‚‹่จ˜่ผ‰ใฏ, 1835ๅนดPFO Rayerใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€1862ๅนดvon Recklinghausen ใซใ‚ˆใ‚Šbrain sclerosis ใ‚’ไผดใฃใŸๆ–ฐ็”Ÿๅ…ใฎcardiac tumors (myomata)ใŒใ€ใใฎๅพŒ1880ๅนดใซใ€Bournevilleใซใ‚ˆใ‚Šใฆใ‚“ใ‹ใ‚“ใ‚’ไผดใ†็ฒพ็ฅž็™บ้”้…ๆปžใฎๆ‚ฃ่€…ใฎๅ‰–ๆคœๆ‰€่ฆ‹ใจใ—ใฆ่„ณใซ็กฌๅŒ–ใ—ใŸ็ต็ฏ€ๆ€ง็—…ๅค‰'Tuberous sclerosis of the cerebral convolutions' ใจ่จ€ใ†่กจ็พใŒไฝฟใ‚ใ‚Œใ€ใ“ใ‚ŒใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅTuberous sclerosisใฎ็”ฑๆฅใจใชใฃใŸใ€‚ใ•ใ‚‰ใซใ€1890ๅนดใ€pringleใฏ้ก”้ขใฎ็šฎ่†š็—‡็Šถใ‚’adenoma sebaceum๏ผˆๅพŒๅนดใ“ใ‚Œใฏadenoma sebaceumใงใฏใชใangiofibromaใงใ‚ใ‚‹ใ“ใจใŒ็ขบ่ชใ•ใ‚Œใ‚‹๏ผ‰ใจๅ ฑๅ‘Šใ—ใŸใ€‚ใ“ใ‚ŒใŒๆœฌ็—‡ใŒBourneville-Pringle็—…ใ‚ใ‚‹ใ„ใฏPringle็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ‚†ใˆใ‚“ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ้บไผๅฝขๅผใซ้–ขใ—ใฆใฏใ€1935ๅนดใซGuntherใจPenroseใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฏๅคใใ‹ใ‚‰็Ÿฅใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใฏใ‚ใฃใŸใŒใ€ใใฎๅพŒ็ด„ๅŠไธ–็ด€ใซใ‚ใŸใฃใฆใปใจใ‚“ใฉ้€ฒๆญฉใŒ่ชใ‚ใ‚‰ใ‚Œใชใ‹ใฃใŸใ€‚1993ๅนดใซEuropian chromosome 16 tuberous sclerosis consortiumใซใ‚ˆใฃใฆ16็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฎ้บไผๅญใฎไธ€ใคTSC2้บไผๅญใŒใ€1997ๅนดใซVan Slegtnenhorstใ‚‰ใซใ‚ˆใฃใฆ9็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซTSC1้บไผๅญใŒใ‚ใ„ใคใ„ใงๅŒๅฎšใ•ใ‚Œใ‚‹ใซๅŠใ‚“ใงใ€ๆœฌ็—‡ใฎ่งฃๆ˜ŽใŒๆ€ฅ้€Ÿใซ้€ฒใ‚“ใ ใ€‚ใใ‚Œใซไผดใ„ใ€ๆœฌ็—‡ใฏ ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡่ค‡ๅˆไฝ“(Tuberous sclerosis complex)(TSC)ใจใ‚ˆใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸใ€‚TSC1้บไผๅญใจTSC2้บไผๅญใจใฏใ€ๅ…จใ็•ฐใชใฃใŸ้บไผๅญใงใ‚ใ‚‹ใŒใ€็พๅœจใฎใจใ“ใ‚ใ€่‡จๅบŠ็š„ใซTSC1,TSC2ใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใฏใงใใชใ„ใ€‚ๆœฌ็—‡ใฏๅ…จ่บซใฎ้Ž่ชค่…ซใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ€ๅคๅ…ธ็š„ใซใฏใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็™ฒ็™‡็™บไฝœๅŠใณ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซ(angiofibroma)ใ‚’ไธ‰ไธปๅพดใจใ—ใฆใใŸใŒใ€ๅ‰่ฟฐใ—ใŸใ‚ˆใ†ใซใ€้บไผๅญๆคœๆŸปใŒๅฏ่ƒฝใซใชใ‚Šใ€็จฎใ€…ใฎๆคœๆŸปๆŠ€่ก“ใ‚„ๆฉŸๅ™จใฎ้€ฒๆญฉใซไผดใ„ใ€ๅคšๆ•ฐใฎ้žๅ…ธๅž‹็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ใฎ่‡จๅบŠ็š„ใช็‰นๅพดใซๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€็ฅž็ตŒ็—‡็Šถใซ้–ขใ—ใฆใฏใ€ๅพ“ๆฅใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚„ใฆใ‚“ใ‹ใ‚“ใฎใฟใงใชใใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใšใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใฆใŠใ‚Šใ€ใ•ใ‚‰ใซใ€ๅนผๅฐๅ…ๆœŸใซ็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใšใซใ€ๆˆไบบใซใชใฃใฆๅˆใ‚ใฆ็šฎ่†šใ‚„่…Žใ€่‚บ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใ‚‚ๅข—ๅŠ ใ—ใฆใใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใซใจใฃใฆใฏใ€่ก€็ฎก็ญ‹่„‚่‚ช่…ซใชใฉใฎ่…Ž็—…ๅค‰ใ‚„ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆLymphangioleiomyomatosis LAM๏ผ‰ใชใฉใฎ่‚บ็—…ๅค‰ใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹็—…ๅค‰ใจใ—ใฆ้‡่ฆใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็”Ÿๅ‘ฝไบˆๅพŒใซใฏ้–ขไธŽใ—ใชใ„ใŒ็šฎ่†š็—…ๅค‰็‰นใซ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใฏ็คพไผš็”Ÿๆดปใ‚’่กŒใ†ไธŠใงๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใ้šœๅฎณใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎใ‚ˆใ†ใซใ€็šฎ่†šใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็›ฎใ€่…Žใ€ๅฟƒใ€่‚บใ€็ญ‰ใปใผๅ…จ่บซใซ็จฎใ€…ใฎ้Ž่ชค่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ใจๅŒๆ™‚ใซใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใ˜ใ€ใ—ใ‹ใ‚‚ใ€ๆœฌ็—‡ใงใฏใ€่‡จๅบŠ็—‡็Šถใฎ็จ‹ๅบฆใซใฏใฐใ‚‰ใคใใŒๅคšใใ€้‡็—‡ๅบฆใฎ็•ฐใชใ‚‹็จฎใ€…ใฎ็—…ๅค‰ใŒ็”Ÿๆถฏใซใ‚ใŸใ‚‹่‰ฒใ€…ใชๆ™‚ๆœŸใซใŠใ“ใฃใฆใใ‚‹ใจใ„ใ†ๆ™‚้–“็š„ใ€็ฉบ้–“็š„ใ€็จฎ้กžใ€็จ‹ๅบฆใฎๅคšๆง˜ๆ€งใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200462NANDO:2200826
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_06_014_01.pdf
rdfs:label - "maturity-onset diabetes of the young" + "tuberous sclerosis complex" @en
rdfs:label - "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…" + "ใ‘ใฃใ›ใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4448http://nanbyodata.jp/ontology/NANDO_1200607
rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_003/https://www.shouman.jp/disease/details/11_06_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100158http://nanbyodata.jp/ontology/NANDO_2100220
skos:altLabel - "MODY" + "TSC" @en
- skos:altLabel - "MODY" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001734
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018911http://purl.obolibrary.org/obo/MONDO_0019341
skos:prefLabel - "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…" + "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200463 +
http://nanbyodata.jp/ontology/NANDO_2200827 (rdf:type owl:Class @@ -123166,67 +180774,79 @@

hasNotificationNumber5hasNotificationNumber26
dcterms:description - "ใ€Œๆ–ฐ็”Ÿๅ…ใ€ใฏ็”ŸๅพŒ1ใ‹ๆœˆไปฅๅ†…ใ‚’ๆŒ‡ใ™ใŒใ€ใ€Œๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใฏไธ€่ˆฌใซ็”ŸๅพŒ6ใ‹ๆœˆๆœชๆบ€ใซ็™บ็—‡ใ—ใŸ็ณ–ๅฐฟ็—…ใจใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งใฎใ‚‚ใฎใฏๅฐ‘ใชใใ€ๅคšใใฏ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚็”ŸๅพŒ18ใ‹ๆœˆใพใงใซๆฒป็™’ใ™ใ‚‹ไธ€้Žๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใจใ€ไปฅๅพŒใ‚‚ๆŒ็ถšใ™ใ‚‹ๆฐธ็ถšๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + "็šฎ่†šใฎ่‰ฒ็ด ๆ€งๆฏๆ–‘ใจไธญๆžข็ฅž็ตŒ็ณปใฎ่ปŸ่†œ๏ผˆ้ซ„่†œ๏ผ‰ใƒกใƒฉใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200463NANDO:2200827
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_07_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_06_015_01.pdf
rdfs:label - "neonatal diabetes mellitus" + "neurocutaneous melanosis" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…" + "ใ—ใ‚“ใ‘ใ„ใฒใตใ“ใใ—ใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_004/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2564
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100158http://nanbyodata.jp/ontology/NANDO_2100220
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016391http://purl.obolibrary.org/obo/MONDO_0009578
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…" + "็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200464 +
http://nanbyodata.jp/ontology/NANDO_2200828 (rdf:type owl:Class @@ -123234,62 +180854,100 @@

hasNotificationNumber2hasNotificationNumber25
dcterms:description - "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“ๆฉŸ่ƒฝใซ็•ฐๅธธใŒใ‚ใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒๆญฃๅธธใซ่กŒใ‚ใ‚Œใชใ„็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚" + "Gorlin็—‡ๅ€™็พค๏ผˆใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค๏ผ‰ใฏ1960ๅนดGorlin RJใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็™บ้”ไธŠใฎๅฅ‡ๅฝขใจ้บไผๆ€ง้ซ˜็™บ็™Œๆ€งใ‚’ไฝตใ›ๆŒใค็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅˆฅๅๆฏๆ–‘ๅŸบๅบ•็ดฐ่ƒž็™Œ็—‡ๅ€™็พคใ€ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พคใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็™บ้”ไธŠใฎๅฅ‡ๅฝขใซใฏๆ‰‹ๆŽŒใƒป่ถณๅบ•็šฎ่†šๅฐ้™ฅๅ‡นใ€ไบŒๅˆ†่‚‹้ชจใชใ„ใ—็™’ๅˆ่‚‹้ชจใ€ๆคŽ้ชจ็•ฐๅธธใ€้กŽ้ชจๅšข่ƒžใ€ๅคง่„ณ้ŽŒ็Ÿณ็ฐๅŒ–ใŒใ‚ใ‚Šใ€็™บ็™ŒใซใฏๅŸบๅบ•็ดฐ่ƒž็™Œใ€้ซ„่Šฝ่…ซใ€ๅตๅทฃ่…ซ็˜ใฎ็™บ็”Ÿ ใŒใ‚ˆใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸGorlin็—‡ๅ€™็พคใงใฏๆ—ฉๆœŸ่จบๆ–ญใ€ๆ—ฉๆœŸๆฒป็™‚ใŒๆœ›ใพใ—ใ„ใŒใ€็—‡็ŠถใŒๅ…จ่บซใซใ‚ใŸใ‚‹ใŸใ‚่จบ็™‚ๅ„็ง‘ใ‚’ๅ›žใ‚Š่จบๆ–ญใŒ้…ใ‚Œใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200464NANDO:2200828
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_07_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_06_016_01.pdf
rdfs:label - "insulin receptor abnormality" + "Gorlin syndrome" @en
rdfs:label - "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" + "ใ”ใƒผใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_005/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=162
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100158http://nanbyodata.jp/ontology/NANDO_2100220
+ skos:altLabel + "Gorlin็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "basal cell nevus syndrome" + @en
+ skos:altLabel + "ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007187
skos:prefLabel - "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" + "ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200465 +
http://nanbyodata.jp/ontology/NANDO_2200829 (rdf:type owl:Class @@ -123297,82 +180955,86 @@

hasNotificationNumber3hasNotificationNumber28
dcterms:description - "่„‚่‚ช่Ž็ธฎ็—‡ใฏใ€ๅ…จ่บซใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†็š„ใซ่„‚่‚ช็ต„็น”ใŒๆธ›ๅฐ‘ใ€ใ‚ใ‚‹ใ„ใฏๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ซ˜้ ปๅบฆใซใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใƒ‰่ก€็—‡ใ€่„‚่‚ช่‚็ญ‰ใฎ็ณ–่„‚่ณชไปฃ่ฌ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ€‚" + "ไธญๆžข็ฅž็ตŒ็ณปใฎ่ก€็ฎก่Šฝ่…ซใ€็ถฒ่†œ่ก€็ฎก่…ซใ€่…Ž็ดฐ่ƒžใ‚ฌใƒณใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€่†ต็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎๅคš็™บ่…ซ็˜ๆ€ง็–พๆ‚ฃใ€‚่…ซ็˜ใฏๅคš็™บๆ€งใƒปๅ†็™บๆ€งใงใ€ๅคš่ก€็—‡ใ€้ซ˜่ก€ๅœงใซๅŠ ใˆใฆใ€่ฆ–ๅŠ›้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่†€่ƒฑ็›ด่…ธ้šœๅฎณใ€่…Žไธๅ…จใ€ไธๅฆŠ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่…Ž็ดฐ่ƒžใ‚ฌใƒณใฎไธ€้ƒจใฏไป–่‡“ๅ™จ่ปข็งปใ—ๆญปไบกๅŽŸๅ› ใจใชใ‚‹ใ€‚" @ja
dcterms:identifier2200465NANDO:2200829
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_07_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_06_017_01.pdf
rdfs:label - "lipoatrophic diabetes" + "von Hippel-Lindau disease" @en
rdfs:label - "่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…" + "ใตใ‰ใ‚“ใฒใฃใบใ‚‹ใƒปใ‚Šใ‚“ใฉใ†ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=894http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1637
rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_006/https://www.shouman.jp/disease/details/11_06_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100158
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005827http://nanbyodata.jp/ontology/NANDO_2100220
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007906 + skos:altLabel + "von Hippel-Lindau็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018883http://purl.obolibrary.org/obo/MONDO_0008667
skos:prefLabel - "่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…" + "ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—…" @ja
- - + - - + + - + - + + "Sturge-Weber syndrome" + @en + "ใ™ใŸใƒผใ˜ใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200466 +
http://nanbyodata.jp/ontology/NANDO_2200830 (rdf:type owl:Class @@ -123380,62 +181042,91 @@

hasNotificationNumber7hasNotificationNumber27
dcterms:description - "็ณ–ๅฐฟ็—…ใฏใ€ๆ…ขๆ€ง็š„ใซ้ซ˜่ก€็ณ–ใ‚’ใใŸใ™็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚1ใ‹ใ‚‰6ใพใงใซ1ๅž‹ใ€2ๅž‹ใ€่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆMODY๏ผ‰ใ€ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ใ€่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€ใŒๆŒ™ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎ็ณ–ๅฐฟ็—…ใจใ—ใฆใ€่†ตๅค–ๅˆ†ๆณŒ็–พๆ‚ฃใ€ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ€่–ฌๅ‰คใ‚„ๅŒ–ๅญฆ็‰ฉ่ณชใซใ‚ˆใ‚‹ใ‚‚ใฎใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚‹ใพใ‚Œใช็—…ๆ…‹ใ€ใใฎไป–ใฎ้บไผ็š„็—‡ๅ€™็พคใง็ณ–ๅฐฟ็—…ใ‚’ไผดใ†ใ“ใจใฎๅคšใ„ใ‚‚ใฎใ€ใชใฉใŒใ‚ใ‚‹ใ€‚" + "ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€้ ญ่“‹ๅ†…่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘๏ผˆๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใ€็ท‘ๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฎ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใฎใซๅฏพใ—ใ€ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใงใฏ้บไผๆ€งใ‚’็คบใ—ใŸไพ‹ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚็—…ๆ…‹ใฎๅŸบๆœฌใฏ้™่„ˆ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚‹ๅพช็’ฐไธๅ…จใงใ‚ใ‚Šใ€่„ณใ€็šฎ่†šใŠใ‚ˆใณ็œผใฎๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใซใ‚ˆใ‚Š่จบๆ–ญใŒใชใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠไธŠใฎๅ•้กŒ็‚นใฏใ€ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใ€ใŠใ‚ˆใณ่ฆ–ๅŠ›ใƒป่ฆ–้‡Ž้šœๅฎณใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒไธปใงใ‚ใ‚‹ใŒใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ‚‚ๆ‚ฃ่€…ใฎ็ฒพ็ฅž็š„่‹ฆๆ‚ฉใฎๅŽŸๅ› ใซใชใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏ้€ฒ่กŒๆ€งใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ“ใจใŒๅคšใใ€ไบˆๅพŒใซๆœ€ใ‚‚ๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใ€9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซๅญ˜ๅœจใ™ใ‚‹GNAQ้บไผๅญใฎๅ˜ไธ€ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ใ€ใƒขใ‚ถใ‚คใ‚ฏๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‚ˆใ‚Šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็ต„็น”ใ‹ใ‚‰ใฎ่จบๆ–ญใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200466NANDO:2200830
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_07_01_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_06_018_01.pdf
rdfs:label - "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—…" - @ja
rdfs:label - "Other diabetes mellitus" - @en
+ rdfs:label + "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_007/http://nanbyodata.jp/ontology/NANDO_1200606
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1479
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100158http://nanbyodata.jp/ontology/NANDO_2100220
+ skos:altLabel + "Sturge-Weber็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008501
skos:prefLabel - "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—…" + "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200467 +
http://nanbyodata.jp/ontology/NANDO_2200831 (rdf:type owl:Class @@ -123443,110 +181134,91 @@

hasNotificationNumber17hasNotificationNumber56
dcterms:description - "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆHPA๏ผ‰ใฏใ€L-ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ‚’L-ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ™ใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–ๅๅฟœใฎ็•ฐๅธธใซใ‚ˆใ‚Š่ก€ๆผฟไธญPheๅ€คใŒ2mg/dlใ‚’่ถŠใˆใ‚‹็Šถๆ…‹ใงใ€ใใฎๅŽŸๅ› ใซใ‚ˆใ‚Šใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใฎ็•ฐๅธธใจใใฎ่ฃœ้…ต็ด ใฎใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎไปฃ่ฌ็•ฐๅธธใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผˆBH4ๆฌ ๆ็—‡ใฏๅˆฅ้ …ๅ‚็…ง๏ผ‰ใ€‚PKUใฏใ€่จบๆ–ญๆ™‚ใฎ่ก€ๆผฟไธญPheๅ€คใซใ‚ˆใ‚Šๅคๅ…ธ็š„PKU๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใ€่ปฝ็—‡PKU๏ผˆ10mg/dlไปฅไธŠ20mg/dl ๆœชๆบ€๏ผ‰ใ€่ปฝ็—‡HPA๏ผˆ10mg/dlๆœชๆบ€๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚BH4ๅๅฟœๆ€งPAHๆฌ ๆ็—‡ใฏใ€PKUใจๅŒใ˜PAHใฎ็•ฐๅธธใงใ‚ใ‚‹ใŒ่ฃœ้…ต็ด BH4ใซๅๅฟœใ—ใฆ่ก€ไธญPheๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚BH4ๅๅฟœๆ€งPKU ใ‚„BH4ๅๅฟœๆ€งHPAใจใ‚ˆใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" + "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚จใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅ…†ๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200467NANDO:2200831
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_07_019_01.pdf
rdfs:label - "Phenylketonuria" + "Werner syndrome" @en
rdfs:label - "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" + "ใ†ใ‡ใ‚‹ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844http://nanbyodata.jp/ontology/NANDO_1200676
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00167http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3183
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_001/https://www.shouman.jp/disease/details/11_07_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160
- skos:altLabel - "HPA" - @enhttp://nanbyodata.jp/ontology/NANDO_2100221
skos:altLabel - "Hyperphenylalaninemia" - @en
- skos:altLabel - "PKU" - @en
- skos:altLabel - "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡" + "Werner็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009861
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016543http://purl.obolibrary.org/obo/MONDO_0010196
skos:prefLabel - "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡" + "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200468 +
http://nanbyodata.jp/ontology/NANDO_2200832 (rdf:type owl:Class @@ -123554,72 +181226,86 @@

hasNotificationNumber8hasNotificationNumber57
dcterms:description - "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸ ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณ ใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€ IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃ ๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" + "DNAไฟฎๅพฉ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒใŒ้šœๅฎณใ•ใ‚Œ้€ฒ่กŒๆ€งใซ้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่…Žไธๅ…จใ€้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้€ฒ่กŒใซใ‚ˆใ‚Š้‡ๅบฆใฎ่บซไฝ“้šœๅฎณใ‚’ๆฅใŸใ—ใ€10๏ฝž20ๆญณไปฃใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" @ja
dcterms:identifier2200468NANDO:2200832
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_07_020_01.pdf
rdfs:label - "Tyrosinemia type 1" + "Cockayne syndrome" @en
rdfs:label - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹" + "ใ“ใ‘ใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3148http://nanbyodata.jp/ontology/NANDO_1200677
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_002/https://www.shouman.jp/disease/details/11_07_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100221
+ skos:altLabel + "Cockayne็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010161http://purl.obolibrary.org/obo/MONDO_0016006
skos:prefLabel - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹" + "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200469 +
http://nanbyodata.jp/ontology/NANDO_2200833 (rdf:type owl:Class @@ -123627,72 +181313,98 @@

hasNotificationNumber9hasNotificationNumber58
dcterms:description - "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญ ใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒ ใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€II ๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒ ไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃ ใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" + "็”ŸๅพŒๅŠๅนด๏ฝž2ๅนดใ‚ˆใ‚Šๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽใ€ๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ ่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ13ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200469NANDO:2200833
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_07_021_01.pdf
rdfs:label - "Tyrosinemia type 2" + "Hutchinson-Gilford syndrome" @en
rdfs:label - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹" + "ใฏใฃใกใ‚“ใใ‚“ใƒปใŽใ‚‹ใตใ‰ใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3147http://nanbyodata.jp/ontology/NANDO_1201007
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_003/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1290
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_07_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100221
+ skos:altLabel + "HGPS" + @en
+ skos:altLabel + "Hutchinson-Gilford progeria syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010160http://purl.obolibrary.org/obo/MONDO_0008310
skos:prefLabel - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹" + "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200470 +
http://nanbyodata.jp/ontology/NANDO_2200834 (rdf:type owl:Class @@ -123700,72 +181412,96 @@

hasNotificationNumber10hasNotificationNumber3
dcterms:description - "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" + "ใ‚ซใƒŠใƒใƒณ็—…ใฏaspartoacylase(ASPA)ใฎๆฌ ๆใซใ‚ˆใ‚‹N-acetyl-aspartate(NAA)ใฎ่“„็ฉใŒใ€้€ฒ ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ1ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฏ10ๅนดไปฅๅ†…ใซๆญปไบกใ—ใ€่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚" @ja
dcterms:identifier2200470NANDO:2200834
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_022_01.pdf
rdfs:label - "Tyrosinemia type 3" + "Canavan disease" @en
rdfs:label - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹" + "ใ‹ใชใฐใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒŠใƒใƒณ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3149http://nanbyodata.jp/ontology/NANDO_1200948
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_004/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3061
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3062
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100222
+ skos:altLabel + "Canavan็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010162http://purl.obolibrary.org/obo/MONDO_0010079
skos:prefLabel - "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹" + "ใ‚ซใƒŠใƒใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200471 +
http://nanbyodata.jp/ontology/NANDO_2200835 (rdf:type owl:Class @@ -123773,72 +181509,91 @@

hasNotificationNumber11hasNotificationNumber2
dcterms:description - "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ใฏ1ๅž‹ใจ2ๅž‹ใฎ2ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1ๅž‹ใฏใƒ—ใƒญใƒชใƒณ้…ธๅŒ–้…ต็ด ใฎ็•ฐๅธธใ€2ๅž‹ใฏP5C (pyrroline-5-carboxylic acid)่„ฑๆฐด็ด ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚Šใ€่ก€ไธญใฎใƒ—ใƒญใƒชใƒณใŒไธŠๆ˜‡ใ™ใ‚‹ใ€‚" + "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ(GFAP)ใ€ฮฑB-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑ ใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ๆ˜Ÿ็Šถ่† ็ดฐ่ƒžใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ๅธŒใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็Šถใ€MRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹(1ๅž‹)ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹(2ๅž‹)ใ€ไธญ้–“ๅž‹(3ๅž‹)ใซๅˆ†้กžใงใใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใงGFAP้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆไธปๆตใซใชใฃใฆใ„ใ‚‹ใ€‚1ๅž‹ใงใฏR79ใ€R88ใ€R239ใŒGFAP้บไผๅญๅค‰็•ฐใฎ็ด„75๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใŒใ€2ๅž‹ใงใฏ็‰นใซ้ ปๅบฆใฎ้ซ˜ใ„ๅค‰็•ฐใฏ่ชใ‚ใชใ„ใ€‚็—…ๆ…‹ใฏใพใ ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใ‚‚ใชใใ€้•ทๆœŸใซใ‚ใŸใ‚‹็™‚้คŠ็”Ÿๆดปใ‚’ๅฟ…่ฆใจใ™ใ‚‹้›ฃๆฒปๆ€ง็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200471NANDO:2200835
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_023_01.pdf
rdfs:label - "Hyperprolinemia" + "Alexander disease" @en
rdfs:label - "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡" + "ใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00190http://nanbyodata.jp/ontology/NANDO_1200554
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_005/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1723
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100222
+ skos:altLabel + "Alexander็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0023419http://purl.obolibrary.org/obo/MONDO_0008752
skos:prefLabel - "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡" + "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200472 +
http://nanbyodata.jp/ontology/NANDO_2200836 (rdf:type owl:Class @@ -123846,84 +181601,79 @@

hasNotificationNumber18hasNotificationNumber4
dcterms:description - "ใƒšใƒ—ใƒใƒ‰ใฎๅŠ ๆฐดๅˆ†่งฃใซใŠใ„ใฆใ€Cๆœซ็ซฏใซใƒ—ใƒญใƒชใƒณใ€ใพใŸใฏใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‚’ๆœ‰ใ™ใ‚‹ใ‚ธใƒšใƒ—ใƒใƒ‰ใ€ใ‚ชใƒชใ‚ดใƒšใƒ—ใƒใƒ‰ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚" + "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1;11็–พๆ‚ฃใจๅŽŸๅ› ้บไผๅญ๏ผ‰ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)MCT8ๆฌ ๆ็—‡(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
dcterms:identifier2200472NANDO:2200836
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "Prolidase deficiency" + "Congenital hypomyelinating leukodystrophy" @en
rdfs:label - "ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1200 + rdfs:label + "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01119http://nanbyodata.jp/ontology/NANDO_1200575
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_006/https://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160
- skos:altLabel - "Hyperimidodipeptiduria" - @enhttp://nanbyodata.jp/ontology/NANDO_2100222
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008221http://purl.obolibrary.org/obo/MONDO_0019046
skos:prefLabel - "ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - + + - + - + + "ใฒใ—ใคใ‹ใฎใ†ใปใ†ใ‚’ใ‚‚ใคใ ใ„ใจใ†ใŒใŸใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200473 +
http://nanbyodata.jp/ontology/NANDO_2200837 (rdf:type owl:Class @@ -123931,77 +181681,79 @@

hasNotificationNumber20hasNotificationNumber6
dcterms:description - "ๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใ€ใƒใƒชใƒณใฎไปฃ่ฌใซ็”ฑๆฅใ™ใ‚‹ฮฑ-ใ‚ฑใƒˆ้…ธใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่กŒใ†ใ€ๅˆ†ๆž้Ž–ฮฑ-ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็”Ÿ้ ปๅบฆใฏ็ด„50ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆไธญๆžข็ฅž็ตŒ้šœๅฎณใจใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’่ชใ‚ใ‚‹ใ€‚็”ŸๅพŒ1-2้€ฑ้–“ใง็™บ็—‡ใ™ใ‚‹ๅคๅ…ธๅž‹ใจใ€่‡จๅบŠ็—‡็ŠถใŒใ‚„ใ‚„่ปฝๅบฆใชไธญ้–“ๅž‹ใ€้€šๅธธใฏ็„ก็—‡็Šถใงๆ€ฅๆ€งๅข—ๆ‚ชใ‚’่ตทใ“ใ™้–“ๆฌ ๅž‹ใชใฉใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚" + "็จ€ใช็™ฝ่ณช่Ž็ธฎ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ1ๆญณใพใงใซๅคง้ ญ็—‡ใ€ๆ•ฐๅนดๅพŒใซๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็—™ๆ€งใŒๅ‡บ็พใ—ใ€้€€่กŒใ—ใฆใ„ใใ€‚้ ญ้ƒจMRIใงใ€ใณใพใ‚“ๆ€งใฎ่…ซ่„นใ€ๅฐ่„ณ็™ฝ่ณชใฎ่…ซ่„นใ€ๅด้ ญ่‘‰ๅ‰้ƒจใ‚„ๅ‰้ ญ้ ญ้ ‚้ƒจใซ็šฎ่ณชไธ‹ๅšข่ƒžใŒใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡็Šถใจ็‰นๅพด็š„ใช้ ญ้ƒจMRIๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใ™ใ‚‹ใ€‚MLC้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC1ใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC2Aใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLCใฎใ†ใก่ปฝ็—‡ใฎMLC2Bใฎ3ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200473NANDO:2200837
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_025_01.pdf
rdfs:label - "maple syrup urine disease" + "megaloencephalic leukoencephalopathy with subcortical cysts" @en
rdfs:label - "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2548 + rdfs:label + "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00172http://nanbyodata.jp/ontology/NANDO_1200950
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_007/https://www.shouman.jp/disease/details/11_08_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100222
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009563http://purl.obolibrary.org/obo/MONDO_0011391
skos:prefLabel - "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" + "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200474 +
http://nanbyodata.jp/ontology/NANDO_2200838 (rdf:type owl:Class @@ -124009,72 +181761,84 @@

hasNotificationNumber19hasNotificationNumber5
dcterms:description - "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใƒกใƒใ‚ชใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใŒ่ก€ไธญใซ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใฎ้‡ๅˆไฝ“ใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณใŒๅฐฟไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚็‹ญ็พฉใฎใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใ‚ทใ‚นใ‚ฟใƒใ‚ชใƒ‹ใƒณฮฒๅˆๆˆ้…ต็ด (CBS)ๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใ“ใ‚Œใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" + "Vanishing white matter disease๏ผˆไปฅไธ‹ใ€VWM๏ผ‰ใฏใ€ๅฐ่„ณๅคฑ่ชฟใ‚„็—™ๆ€ง้บป็—บใŒ็ทฉๅพใซ้€ฒ่กŒใ—ใ€ๆ„ŸๆŸ“ใ‚„้ ญ้ƒจๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใซ็—‡็ŠถใŒๆ€ฅๆ€งๅข—ๆ‚ชใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใ€ๅคง่„ณ็™ฝ่ณชๅ…จไฝ“ใ‚ใ‚‹ใ„ใฏใใฎไธ€้ƒจใŒใ€่„ณ่„Š้ซ„ๆถฒใจใปใผๅŒใ˜ไฟกๅทๅผทๅบฆใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚Childhood ataxia with central nervous system hypomyelination (CACH)ใจใ‚‚ๅ‘ผใฐใ‚Œใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใ€ๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200474NANDO:2200838
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_026_01.pdf
rdfs:label - "Homocystinuria" + "vanishing white matter disease" @en
rdfs:label - "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" + "ใฏใใ—ใคใ—ใ‚‡ใ†ใ—ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™ฝ่ณชๆถˆๅคฑ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00183http://nanbyodata.jp/ontology/NANDO_1200951
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_008/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4193
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100222
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004737http://purl.obolibrary.org/obo/MONDO_0011380
skos:prefLabel - "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" + "็™ฝ่ณชๆถˆๅคฑ็—…" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200475 +
http://nanbyodata.jp/ontology/NANDO_2200839 (rdf:type owl:Class @@ -124082,72 +181846,84 @@

hasNotificationNumber12hasNotificationNumber8
dcterms:description - "ใƒกใƒใ‚ชใƒ‹ใƒณใ‚ขใƒ‡ใƒŽใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๆŒ็ถšๆ€งใฎ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๅ˜็‹ฌใฎไธŠๆ˜‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ(AD)ใ™ใ‚‹็—…ๅž‹ใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๆฟƒๅบฆใŒ10mg/dlไปฅไธ‹ใงใ‚ใ‚Š่‡จๅบŠ็š„ใซ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ(AR)ใ™ใ‚‹็—…ๅž‹ใงใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณใฎ้ซ˜ๅ€ค๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใŒๆŒ็ถšใ—่„ฑ้ซ„ใ‚’ไผดใ†ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹1)" + "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พค(X-linked ฮฑ-thalassemia/intellectual disability syndrome;ใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธ€ใคใงใ™ใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข(HbH็—…)ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ™ใ€‚ATRX้บไผๅญใŒใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ‚ฟใƒณใƒ‘ใ‚ฏATRXใฏใ‚ฏใƒญใƒžใƒใƒณใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐๅ› ๅญใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚ATRX้บไผๅญใฎๅค‰ๅŒ–ใซใ‚ˆใ‚Šใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚ฃใ‚ฏใ‚นๅˆถๅพกๆฉŸๆง‹ใฎ็ ด็ถปใŒ่ตทใ“ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญใฎ็™บ็พ็•ฐๅธธใฎใŸใ‚ใ€ๅคšๆง˜ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚่ฟ‘ๅนดใ€ATRXใ‚ฟใƒณใƒ‘ใ‚ฏใŒใ€ใ‚ฒใƒŽใƒ ใฎ็‰นๅˆฅใชๆง‹้€ ๏ผˆG-quadruplex: G4ใ€ใ‚ฐใ‚ขใƒ‹ใƒณๅ››้‡้Ž–๏ผ‰ใซ็ตๅˆใ—ใ€่ฟ‘ๅ‚ใฎ้บไผๅญใฎ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใพใ—ใŸใ€‚็พๅœจใ€ใ“ใฎใƒกใ‚ซใƒ‹ใ‚บใƒ ใ‚’ๅˆฉ็”จใ—ใŸๆฒป็™‚่–ฌใฎ้–‹็™บใŒๆŽข็ดขใ•ใ‚Œใฆใ„ใพใ™ใ€‚" @ja
dcterms:identifier2200475NANDO:2200839
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_09_027_01.pdf
rdfs:label - "Hypermethioninemia" + "ATR-X syndrome" @en
rdfs:label - "้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡" + "ATR-X็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใˆใƒผใฆใƒใƒผใ‚ใƒผใ‚‹ใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00184http://nanbyodata.jp/ontology/NANDO_1200665
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_009/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3332
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_09_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100223
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000351http://purl.obolibrary.org/obo/MONDO_0010519
skos:prefLabel - "้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡" + "ATR-X็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200476 +
http://nanbyodata.jp/ontology/NANDO_2200840 (rdf:type owl:Class @@ -124155,67 +181931,84 @@

hasNotificationNumber16hasNotificationNumber35
dcterms:description - "ไธญๆžข็ฅž็ตŒ็ณปใ€่‚่‡“ใ€่…Ž่‡“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅˆ†ๅธƒใ™ใ‚‹ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎ้บไผ็š„ใชๆฌ ๆใฎใŸใ‚ใซใ€่ก€ๆผฟใ‚„้ซ„ๆถฒใชใฉใฎไฝ“ๆถฒไธญใซๅคง้‡ใฎใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ทใƒณใฏไธญๆžข็ฅž็ตŒ็ณปใง็ฅž็ตŒไผ้”็‰ฉ่ณชใจใ—ใฆๅƒใใŸใ‚ใ€ใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใง้‡็ฏคใช็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚" + "X ๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎ FMR1 ้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50 ใ‹ใ‚‰ 200 ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑ X ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ 200 ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑ X ็—‡ๅ€™็พคใจใชใ‚‹ใ€‚" @ja
dcterms:identifier2200476NANDO:2200840
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_10_028_01.pdf
rdfs:label - "Nonketotic hyperglycinaemia" + "Fragile X syndrome" @en
rdfs:label - "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00191http://nanbyodata.jp/ontology/NANDO_1200692
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_010/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6806
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_10_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100224
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010383
skos:prefLabel - "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡" + "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200477 +
http://nanbyodata.jp/ontology/NANDO_2200841 (rdf:type owl:Class @@ -124223,77 +182016,93 @@

hasNotificationNumber3hasNotificationNumber45
dcterms:description - "ใ‚ขใƒณใƒขใƒ‹ใ‚ขใฏ่‚่‡“ใซใŠใ„ใฆๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใ‚’็ตŒใฆใ€็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎๅๅฟœใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1 (CPS1)ใงใ‚ใ‚‹ใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ(NAG)ใฏใ€CPS1ใฎๆดปๆ€งๅŒ–ใซๅƒใใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด (NAGS)ๆฌ ๆ็—‡ใงใฏใ€NAGใฎๅˆๆˆไฝŽไธ‹ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็จฎใ€…ใฎGPIใ‚ขใƒณใ‚ซใƒผๅž‹ใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใฏๅฐ่ƒžไฝ“ใงใ‚ฟใƒณใƒ‘ใ‚ฏ่ณช้ƒจๅˆ†ใจGPI ใ‚ขใƒณใ‚ซใƒผใŒๅˆฅใ€…ใซๅˆๆˆใ•ใ‚Œใฆ็ตๅˆใ—ใ€ๅฐ่ƒžไฝ“ใ‚„ใ‚ดใƒซใ‚ธไฝ“ใงไฟฎ้ฃพใ•ใ‚Œใฆใ€็ดฐ่ƒž่†œ่กจ้ขใซ่ผธ้€ใ•ใ‚Œใ‚‹ใŒใ€ๅ…ˆๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ“ใฎ้Ž็จ‹ใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใฎใŒใ€ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡ (IGD)ใงใ‚ใ‚‹ใ€‚ใ€€IGDใงใฏใ€็Ÿฅ็š„้šœๅฎณใŒๅฟ…็™บใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„้ก”่ฒŒใƒปๆถˆๅŒ–็ฎกใƒป่…Žๅฐฟ่ทฏ็ณปใƒปๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใชใฉใฎๅฝขๆ…‹็•ฐๅธธใ€้›ฃ่ดใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้‡ๅบฆๅฟƒ่บซ้šœๅฎณๅ…ใƒป่€…ใจใชใ‚‹ใ€‚่จบๆ–ญใซใฏใ€้ก†็ฒ’็ƒใฎใƒ•ใƒญใƒผใ‚ตใ‚คใƒˆใƒกใƒˆใƒชใƒผใ€้บไผๅญๆคœๆŸปใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200477NANDO:2200841
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_11_029_01.pdf
rdfs:label - "N-acetylglutamate synthetase deficiency" + "Inherited glycosylphosphatidylinositol deficiency" @en
rdfs:label - "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2365 + rdfs:label + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01032http://nanbyodata.jp/ontology/NANDO_1200983
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_011/https://www.shouman.jp/disease/details/11_11_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100225
+ skos:altLabel + "IGD" + @en
+ skos:altLabel + "ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009377http://purl.obolibrary.org/obo/MONDO_0024321
skos:prefLabel - "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200478 +
http://nanbyodata.jp/ontology/NANDO_2200842 (rdf:type owl:Class @@ -124301,62 +182110,79 @@

hasNotificationNumber5hasNotificationNumber65
dcterms:description - "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎใ‚นใƒ†ใƒƒใƒ—ใงใ‚ใ‚‹ใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ใฎใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1(CPS1)ใงใ‚ใ‚‹ใ€‚CPS1ๆฌ ๆ็—‡ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค(cerebral creatine deficiency syndromes: CCDSs)ใฏใ€่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใซใ‚ˆใ‚Šใ€็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ/ใƒชใƒณ้…ธใ‚ฏใƒฌใ‚ขใƒใƒณ็ณปใฏ๏ผŒ่„ณใ‚„็ญ‹ใซใŠใ‘ใ‚‹ๅŒ–ๅญฆ็š„ใ‚จใƒใƒซใ‚ฎใƒผใฎ็ดฐ่ƒž่ณช่ฒฏ่”ตใฎ็ทฉ่ก็ณปใจใ—ใฆๅƒใ„ใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใ‚„่ผธ้€ใฎ้šœๅฎณใฏ่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใ‚’ใใŸใ—ใ€็Ÿฅ็š„้šœๅฎณใ€่จ€่ชž็™บ้”้…ๆปžใ€ใฆใ‚“ใ‹ใ‚“ใ‚’ๅผ•ใ่ตทใ“ใ™ใจใ€่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปข็งป้…ต็ด (GAMT)ๆฌ ๆ็—‡ใจใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆAGAT๏ผ‰ๆฌ ๆ็—‡ใฎ2็–พๆ‚ฃใ€ ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ไฝ“๏ผˆSLC6A8๏ผ‰ๆฌ ๆ็—‡ใฎ3็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚SLC6A8ๆฌ ๆ็—‡ใฏ้บไผๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธญใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใพใ™ใ€‚ใพใŸใ€GAMTๆฌ ๆ็—‡ใจAGATๆฌ ๆ็—‡ใฏใ€ใ‚ฏใƒฌใ‚ขใƒใƒณใฎ็ตŒๅฃๆŠ•ไธŽใŒๆœ‰ๅŠนใชใ€ๆฒป็™‚ๆ–นๆณ•ใฎใ‚ใ‚‹็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ใใฎๆ—ฉๆœŸ่จบๆ–ญใฏ้‡่ฆใงใ™ใ€‚" @ja
dcterms:identifier2200478NANDO:2200842
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_12_030_01.pdf
rdfs:label - "Carbamoylphosphate synthetase deficiency" + "Cerebral creatine deficiency syndrome" @en
rdfs:label - "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ใฎใ†ใใ‚Œใ‚ใกใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_012/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00849
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_12_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100226
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000456
skos:prefLabel - "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200479 +
http://nanbyodata.jp/ontology/NANDO_2200843 (rdf:type owl:Class @@ -124364,67 +182190,74 @@

hasNotificationNumber4hasNotificationNumber33
dcterms:description - "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไบŒๆฎต้šŽ็›ฎใฎๅๅฟœ๏ผˆใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธใจใ‚ชใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ทใƒˆใƒซใƒชใƒณใ‚’ๅˆๆˆ๏ผ‰ใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผ(OTC)ใงใ‚ใ‚‹ใ€‚OTCๆฌ ๆ็—‡ใฏๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฎไธญใงใฏๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ€‚X้€ฃ้Ž–ๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅฅณๆ€งใงใ‚‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใฎ็จ‹ๅบฆใซใ‚ˆใฃใฆๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰็„ก็—‡็Šถไพ‹ใพใงๆง˜ใ€…ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ็จ€ใซ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ‚ˆใ‚‹็‰นๆœ‰ใฎ้ ญ่“‹้ก”้ขใฎๅค‰ๅฝขใ‚’ๆฅใŸใ—ใ€ไป–ใฎ้ก”้ขใƒปๆŒ‡่ถพใƒปๅ››่‚ขใƒปๅ…จ่บซใฎ็•ฐๅธธใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ‚ˆใถใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ…จไฝ“ใฎ็ด„85%ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ้ƒจไฝใซๅฟœใ˜ใŸไปฃๅ„Ÿๆ€ง้ ญ่“‹้ชจๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅŽŸๅ› ใฏใปใจใ‚“ใฉใฎๅ ดๅˆไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใซใชใ‚Šไธ€้ƒจใฎ็—‡ไพ‹ใง้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใŒ็ณป็ตฑใ ใฃใŸ่งฃๆžใฏไปŠๅพŒใฎ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่ฆ‹่งฃใจ็•ฐใชใ‚Šใ€้ซ˜ๆฌก่„ณๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ“ใจใŒ่ฟ‘ๅนดๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200479NANDO:2200843
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf
rdfs:label - "Ornitine transcarbamylase deficiency" + "Non-syndromic craniosynostosis" @en
rdfs:label - "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00187 + rdfs:label + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_013/https://www.shouman.jp/disease/details/11_13_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100227
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015337
skos:prefLabel - "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200480 +
http://nanbyodata.jp/ontology/NANDO_2200844 (rdf:type owl:Class @@ -124432,86 +182265,91 @@

hasNotificationNumber1hasNotificationNumber31
dcterms:description - "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไธ‰ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด (ASS)ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒซใƒชใƒณใจใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‹ใ‚‰ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ๅˆๆˆใ™ใ‚‹ใ€‚ASSๆฌ ๆ็—‡ใงใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใจใจใ‚‚ใซใ€่ก€ไธญใ‚ทใƒˆใƒซใƒชใƒณใŒ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹(CTLN1)ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚" + "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽApert็—‡ๅ€™็พคใฏๅฐ–้ ญๅˆๆŒ‡็—‡(acrocephalosyndactyly) type๏ผ‘ใซๅˆ†้กžใ•ใ‚Œใ‚‹็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅฝขๆ…‹ใƒป้ก”่ฒŒใƒป่„ณๅฝขๆˆ็•ฐๅธธใฎใฟใชใ‚‰ใšใ€ๅฟƒ่‡“ใƒปๆถˆๅŒ–ๅ™จใƒป้ชจ็›ค่‡“ๅ™จใซใ‚‚็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅคšใใฏๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2 exson7ใฎๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200480NANDO:2200844
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf
rdfs:label - "Argininosuccinate synthetase deficiency" + "Apert syndrome" @en
rdfs:label - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1963http://nanbyodata.jp/ontology/NANDO_1200667
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_014/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=12
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_032/
- skos:altLabel - "Citrullinaemia type 1" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100227
skos:altLabel - "ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡" + "Apert็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008988http://purl.obolibrary.org/obo/MONDO_0007041
skos:prefLabel - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200481 +
http://nanbyodata.jp/ontology/NANDO_2200845 (rdf:type owl:Class @@ -124519,77 +182357,86 @@

hasNotificationNumber2hasNotificationNumber32
dcterms:description - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡(ASA)ใฏใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆ†่งฃ้…ต็ด (AL)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๅ››ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒALใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใจใƒ•ใƒžใƒซ้…ธใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚" + "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚Crouzon็—…ใฏ็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€ๅˆๆŒ‡ใƒป่ถพ็—‡ใฏไผดใ‚ใชใ„๏ผŽ้ ญ่“‹ๅ†…ๅœงไบข้€ฒใƒป้ ญ่“‹ๅค‰ๅฝขใƒป็œผ็ƒ็ชๅ‡บใซๅŠ ใˆไธŠๆฐ—้“็‹ญ็ช„ใƒปไธญ้ก”้ขไฝŽๅฝขๆˆ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็™บ็—‡ๅฝขๆ…‹ๆง˜ๅผใฎๅ€‹ไบบๅทฎใŒๆฅตใ‚ใฆๅคงใใ„ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ“ใจ ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2ๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200481NANDO:2200845
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf
rdfs:label - "Argininosuccinic aciduria" + "Crouzon disease" @en
rdfs:label - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1786 + rdfs:label + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01028http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=374
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_015/https://www.shouman.jp/disease/details/11_13_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100227
+ skos:altLabel + "Crouzon็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008815http://purl.obolibrary.org/obo/MONDO_0007405
skos:prefLabel - "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…" @ja
- - + - - + + - + - + + "30ใ‹ใ‚‰32ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚…ใ†ใฉใฎใšใŒใ„ใ“ใคใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - +
http://nanbyodata.jp/ontology/nando#2200482 +
http://nanbyodata.jp/ontology/NANDO_2200846 (rdf:type owl:Class @@ -124597,67 +182444,69 @@

hasNotificationNumber6hasNotificationNumber34
dcterms:description - "่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‚’็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ™ใ‚‹ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€็ต‚ๆฎต้šŽใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ‚’ๅฐฟ็ด ใจใ‚ชใƒซใƒ‹ใƒใƒณใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใฎ้šœๅฎณใซใ‚ˆใ‚Š่ก€ไธญใƒปๅฐฟไธญใซใ‚ขใƒซใ‚ฎใƒ‹ใƒณไธŠๆ˜‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚" + "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200482NANDO:2200846
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label - "Hyperarginemia" - @en
rdfs:label - "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" + "30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00186 + rdfs:label + "Other craniosynostosis" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_016/https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100227
skos:prefLabel - "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" + "30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200483 +
http://nanbyodata.jp/ontology/NANDO_2200847 (rdf:type owl:Class @@ -124665,77 +182514,79 @@

hasNotificationNumber14
- dcterms:description - "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใซใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ทใƒˆใƒชใƒณๆฌ ๆใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผˆneonatal intrahepatic cholestasis caused by citin deficiency: NICCD๏ผ‰ใจๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆadult-onset type 2 citrullinemia: CTLN2๏ผ‰ใฎ2ใคใฎๅนด้ฝขไพๅญ˜ๆ€งใฎ่‡จๅบŠๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹1)2)ใ€‚ใ“ใฎ้–“ใซใ€Œ่ฆ‹ใ‹ใ‘ไธŠๅฅๅบทใ€ใช้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใŒใ‚ใ‚‹ใ€‚ใ“ใฎๆ™‚ๆœŸใฎ็—…ๆ…‹ใƒป็—…ๅž‹ใ‚’FTTDCD (Failure to thrive and dyslipidemia caused by citrin deficiency)ใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹3)ใ€‚" - @jahasNotificationNumber34
dcterms:identifier2200483NANDO:2200847
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label - "Citrin deficiency" + "Carpenter syndrome" @en
rdfs:label - "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + "Carpenter็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ‹ใƒผใบใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4144https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01888
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_017/https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2200846
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011326 + skos:altLabel + "ใ‚ซใƒผใƒšใƒณใ‚ฟใƒผ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016602http://purl.obolibrary.org/obo/MONDO_0019012
skos:prefLabel - "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡" + "Carpenter็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + - - - - + "ใ‚ผใƒผใƒ„ใƒฌโ€ใ‚ณใƒƒใƒ„ใ‚งใƒณ็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200484 +
http://nanbyodata.jp/ontology/NANDO_2200848 (rdf:type owl:Class @@ -124743,82 +182594,84 @@

hasNotificationNumber7hasNotificationNumber34
dcterms:identifier2200484NANDO:2200848
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label - "Hyperornithinemia" + "Saethre-Chotzen syndrome" @en
rdfs:label - "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" + "Seather-Chotzen็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ›ใƒผใจใ‚Œใฒใ‚‡ใคใ‡ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2783http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=13
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00189https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01991
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_018/https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2200846
skos:altLabel - "HHH" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009393
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009796http://purl.obolibrary.org/obo/MONDO_0007042
skos:prefLabel - "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" + "Seather-Chotzen็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + "ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใฎใŸใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200485 +
http://nanbyodata.jp/ontology/NANDO_2200849 (rdf:type owl:Class @@ -124826,79 +182679,62 @@

hasNotificationNumber7
- dcterms:description - "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ HHH็—‡ๅ€™็พค๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅฑ€ๅœจใ™ใ‚‹ใ‚ชใƒซใƒ‹ใƒใƒณ่ผธ้€่›‹็™ฝ๏ผˆORNT1๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผ“ใคใฎๅพดๅ€™๏ผˆ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผ‰ใฎ้ ญๆ–‡ๅญ—ใ‚’ใจใฃใฆHHH็—‡ๅ€™็พคใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏSLC25A15ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹2)ใ€‚" - @jahasNotificationNumber34
dcterms:identifier2200485NANDO:2200849
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label - "Hyperornithinemia-Hyperammonemia-Homocitrullinuria" + "unclassifiable multiple suture craniosynostosis" @en
rdfs:label - "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2381 + rdfs:label + "ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_018/https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200484
- skos:altLabel - "HHH" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009393http://nanbyodata.jp/ontology/NANDO_2200846
skos:prefLabel - "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค" + "ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200486 +
http://nanbyodata.jp/ontology/NANDO_2200850 (rdf:type owl:Class @@ -124906,79 +182742,79 @@

hasNotificationNumber7hasNotificationNumber79
dcterms:description - "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ก่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ๆœฌ็—‡ใฏใ‚ชใƒซใƒ‹ใƒใƒณฮด-ใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆOAT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้€ฒ่กŒๆ€งใฎ่„ˆ็ตก่†œ็ถฒ่†œๅค‰ๆ€งใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ณๅ›ž่ปข๏ผˆgyrus๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹็‰น็•ฐใช็œผๅบ•ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹1)ใ€‚" + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…(ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡)ใฏๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€ไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—ใ€5ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซใฏ่„ณ่ก€็ฎก้–‰ๅกž๏ผˆ่„ณ่™š่ก€๏ผ‰ใฎ็—‡็ŠถใŒๅคšใใ€ๆˆไบบๆœŸใซใฏ่„ณๅ‡บ่ก€ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคšใ„ใ€‚" @ja
dcterms:identifier2200486NANDO:2200850
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_14_035_01.pdf
rdfs:label - "Gyrate Atrophy of Choroid and Retina" + "Moyamoya disease" @en
rdfs:label - "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" + "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2783http://nanbyodata.jp/ontology/NANDO_1200183
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_018/https://www.shouman.jp/disease/details/11_14_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200484
- skos:altLabel - "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡" - @jahttp://nanbyodata.jp/ontology/NANDO_2100228
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009796http://purl.obolibrary.org/obo/MONDO_0016820
skos:prefLabel - "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡" + "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" @ja
- - + - - + + - + - + + "ใฎใ†ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„" + @ja-Hira - - + + - + - + - + + "Cerebral AVM" + @en - +
http://nanbyodata.jp/ontology/nando#2200487 +
http://nanbyodata.jp/ontology/NANDO_2200851 (rdf:type owl:Class @@ -124986,84 +182822,86 @@

hasNotificationNumber15hasNotificationNumber73
dcterms:description - "่…Žๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณๅฐ่…ธไธŠ็šฎใซๅฑ€ๅœจใ™ใ‚‹ไธญๆ€งใ‚ขใƒŸใƒŽ้…ธ่ผธ้€ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ€ๅฐฟไธญใธใฎๅคง้‡ใฎไธญๆ€งใ‚ขใƒŸใƒŽ้…ธๆŽ’ๆณ„ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใช่‡จๅบŠๅƒใฏใƒšใƒฉใ‚ฐใƒฉๆง˜็šฎ่†š็‚Žใ€ๅฐ่„ณๅคฑ่ชฟ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๅปถใชใฉใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถไพ‹ใ‚‚ๅคšใ„1)2)ใ€‚" + "ๅคงๅฐๆง˜ใ€…ใช็•ฐๅธธๅ‹•้™่„ˆ้–“ใซ็›ดๆŽฅๅปๅˆใŒใ‚ใ‚Šใ€็•ฐๅธธใช่ก€็ฎกๅกŠ๏ผˆใƒŠใ‚คใƒ€ใ‚น๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๆฏ›็ดฐ่ก€็ฎกใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€ๅ‹•่„ˆ่ก€ใฏ็›ดๆŽฅ้™่„ˆ็ณปใซ็งป่กŒใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200487NANDO:2200851
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_15_036_01.pdf
rdfs:label - "Hartnup disease" + "Cerebral arteriovenous malformation" @en
rdfs:label - "ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2311 + rdfs:label + "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00843http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=128
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_019/https://www.shouman.jp/disease/details/11_15_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100229
skos:altLabel - "Hartnup็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009324http://purl.obolibrary.org/obo/MONDO_0007154
skos:prefLabel - "ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—…" + "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" @ja
- - + - - + + - + - + - - - - + "ใ‹ใ„ใ‚ใ‚“ใ˜ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚…๏ผˆใฎใ†ใ›ใใšใ„๏ผ‰" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200488 +
http://nanbyodata.jp/ontology/NANDO_2200852 (rdf:type owl:Class @@ -125071,77 +182909,74 @@

hasNotificationNumber21hasNotificationNumber9
dcterms:description - "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€่›‹็™ฝใฎใฒใจใคใงใ‚ใ‚‹ y+LAT-1( y+L amino acid transporter-1)ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚ŠใŠใ“ใ‚‹ใ€ใ“ใ‚Œใ‚‰ใฎ่†œ่ผธ้€้šœๅฎณใ‚’ใŠใ‚‚ใช็—…ๆ…‹ใจใ™ใ‚‹ใ€‚ไธŠ่จ˜ใ‚ขใƒŸใƒŽ้…ธใฎใ€ๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚" + "็•ฐๅธธใซๆ‹กๅผตใ—ใŸๆดžๆง˜่ก€็ฎกใŒ้™ๅฑ€็š„ใซๅฏ†ใซ้›†ๅˆใ—ใ€ใใฎใŸใ‚ๅ„่ก€็ฎกใฎ้–“ใซๆญฃๅธธ่„ณ็ต„็น”ใŒใฟใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€ง่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200488NANDO:2200852
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_16_037_01.pdf
rdfs:label - "Lysinuric protein intolerance" + "Cavernous angioma of the brain and spinal cord" @en
rdfs:label - "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2093
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00899 + rdfs:label + "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_020/https://www.shouman.jp/disease/details/11_16_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100230
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009109http://purl.obolibrary.org/obo/MONDO_0002327
skos:prefLabel - "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡" + "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" @ja
- - + - - + + - + - + + "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200489 +
http://nanbyodata.jp/ontology/NANDO_2200853 (rdf:type owl:Class @@ -125149,77 +182984,79 @@

hasNotificationNumber13hasNotificationNumber40
dcterms:description - "ใ‚ทใ‚นใƒใƒณใจไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€็ณปใฎ้บไผ็š„็•ฐๅธธใŒๅŽŸๅ› ใจใชใ‚Šใ€ๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใ‚ทใ‚นใƒใƒณใฎๅ†ๅธๅŽ้šœๅฎณใŒ่ตทใ“ใ‚Šๅฐฟ่ทฏๅ†…ใซใ‚ทใ‚นใƒใƒณ็ต็ŸณใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚" + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡(SMA)ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹(OMIM#253300)ใ€IIๅž‹(OMIM#253550)ใ€IIIๅž‹(OMIM#253400)ใ€IVๅž‹(OMIM#27115)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95%ใซSMN้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ1๏ผ2ๅ‰ฒใซใŠใ„ใฆSMN๏ผˆsurvival motor neuron๏ผ‰้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200489NANDO:2200853
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_17_038_01.pdf
rdfs:label - "Cystinuria" + "spinal muscular atrophy" @en
rdfs:label - "ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2047 + rdfs:label + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00901http://nanbyodata.jp/ontology/NANDO_1200003
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_021/https://www.shouman.jp/disease/details/11_17_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100231
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009067http://purl.obolibrary.org/obo/MONDO_0001516
skos:prefLabel - "ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" + "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" @ja
- - + - - + + - + - + + "Congenital Insensitivity to Pain with Anhidrosis" + @en + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใคใ†ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200490 +
http://nanbyodata.jp/ontology/NANDO_2200854 (rdf:type owl:Class @@ -125227,62 +183064,84 @@

hasNotificationNumber22hasNotificationNumber47
dcterms:description - "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใ‚„่ผธ้€ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹1ใ€œ21ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎใ‚ขใƒŸใƒŽ้…ธใฎไธŠๆ˜‡ใ‚„ไฝŽไธ‹ใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไฝ†ใ—ใ€ๅคš่‡“ๅ™จไธๅ…จใชใฉใฎ็•ฐๅŒ–ไบข้€ฒใซไผดใ†ไบŒๆฌก็š„ใชใ‚ขใƒŸใƒŽ้…ธใƒ—ใƒญใƒ•ใ‚กใ‚คใƒซใฎ็•ฐๅธธใฏ้™คๅค–ใ™ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง็„ก็—›็—‡ใฏ้บไผๆ€งๆ„Ÿ่ฆšใƒป่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ(HSAN)ใซๅฑžใ™ใ‚‹็–พๆ‚ฃใงใ€ใ“ใฎใ†ใก4ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡๏ผšCongenital Insensitivity to Pain with Anhidrosis๏ผšCIPA๏ผ‰ใจ5ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็—‡๏ผšCongenital Insensitivity to Pain๏ผšCIP๏ผ‰ใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚CIPAใงใฏๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’ๅˆไฝตใ—ใ€็จฎใ€…ใฎ็จ‹ๅบฆใฎ็Ÿฅ่ƒฝไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200490NANDO:2200854
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_01_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_18_039_01.pdf
rdfs:label - "1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorders of amino acid metabolism" - @en
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_022/http://nanbyodata.jp/ontology/NANDO_1200553
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2733
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_18_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100160http://nanbyodata.jp/ontology/NANDO_2100232
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009746
skos:prefLabel - "1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200491 +
http://nanbyodata.jp/ontology/NANDO_2200855 (rdf:type owl:Class @@ -125290,69 +183149,86 @@

hasNotificationNumber110hasNotificationNumber46
dcterms:description - "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏไธŠใฎ้…ต็ด ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoAใƒ ใ‚ฟใƒผใ‚ผ (EC 5.4.99.2; MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚" + "ๆœซๆขข็ฅž็ตŒใŒ้บไผ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจใ‚ˆใถใ€‚ๆœซๆขข็ฅž็ตŒใฏ้‹ๅ‹•็ฅž็ตŒใ€ๆ„Ÿ่ฆš็ฅž็ตŒใ€่‡ชๅพ‹็ฅž็ตŒใซๅคงๅˆฅใ•ใ‚Œใ€ใพใŸๆง‹้€ ไธŠ่ปธ็ดขใจ้ซ„้ž˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ“ใ‚Œใ‚‰ๆœซๆขข็ฅž็ตŒๆง‹ๆˆๆˆๅˆ†ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็”Ÿใ˜ใฆใŠใ‚Šใ€้›ปๆฐ—็”Ÿ็†ๆคœๆŸปใŠใ‚ˆใณ้บไผๅญฆ็š„ๆคœๆŸปใซใ‚ˆใฃใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚" @ja
dcterms:identifier2200491NANDO:2200855
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_18_040_01.pdf
rdfs:label - "methylmalonic acidaemia" + "Hereditary Motor and Sensory Neuropathy" @en
rdfs:label - "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" + "ใ„ใงใ‚“ใ›ใ„ใ†ใ‚“ใฉใ†ใ‹ใ‚“ใ‹ใใซใ‚…ใƒผใ‚ใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_023/https://www.shouman.jp/disease/details/11_18_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100232
skos:altLabel - "MMA" + "Charcot-Marie-Tooth disease" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015358
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015626
skos:prefLabel - "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" + "้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + "Duchenneๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja + + + +
http://nanbyodata.jp/ontology/nando#2200492 +
http://nanbyodata.jp/ontology/NANDO_2200856 (rdf:type owl:Class @@ -125360,74 +183236,91 @@

hasNotificationNumber107hasNotificationNumber14
dcterms:description - "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏใฎไธญ้–“ไปฃ่ฌ้šœๅฎณใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ(MIM #606054)ใ€‚" + "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅฐๅ…ๆœŸ็™บ็—‡ใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200492NANDO:2200856
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_041_01.pdf
rdfs:label - "propionic acidaemia" + "Duchenne muscular dystrophy" @en
rdfs:label - "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" + "ใงใ‚…ใ—ใ‡ใ‚“ใฌใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00175http://nanbyodata.jp/ontology/NANDO_1200488
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_024/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3509
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100233
skos:altLabel - "PA" - @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010679
skos:prefLabel - "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" + "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200493 +
http://nanbyodata.jp/ontology/NANDO_2200857 (rdf:type owl:Class @@ -125435,72 +183328,86 @@

hasNotificationNumber108hasNotificationNumber11
dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ๅนผๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๆฏ”่ผƒ็š„็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹ใฎใปใ‹ใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‹ใ‚‰่ชใ‚ใ‚‹้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒไผๅฐŽ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200493NANDO:2200857
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_042_01.pdf
rdfs:label - "beta-ketothiolase deficiency" + "Emery-Dreifuss muscular dystrophy" @en
rdfs:label - "ฮฒ-ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ใˆใ‚ใ‚Šใƒผใƒปใฉใ‚Œใ„ใตใ™ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1731http://nanbyodata.jp/ontology/NANDO_1200492
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_025/https://www.shouman.jp/disease/details/11_19_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100233
+ skos:altLabel + "Emery-Dreifussๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008760http://purl.obolibrary.org/obo/MONDO_0016830
skos:prefLabel - "ฮฒ-ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200494 +
http://nanbyodata.jp/ontology/NANDO_2200858 (rdf:type owl:Class @@ -125508,67 +183415,79 @@

hasNotificationNumber96hasNotificationNumber13
dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้…ต็ด ใงใ‚ใ‚‹ใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€IVD้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚Šใƒญใ‚คใ‚ทใƒณใซ็”ฑๆฅใ™ใ‚‹ใ‚คใ‚ฝๅ‰่‰้…ธใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ฐใƒชใ‚ทใƒณใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใ€็‰นใซ้ฃข้ค“ๆ™‚ใซ้ซ˜ๅบฆใฎ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚„ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ—ๆญปไบกใ—ใŸใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใŸใ‚Šใ™ใ‚‹ใŒใ€ๆ—ฉๆœŸใซ่จบๆ–ญใ—้ฉๅˆ‡ใซๆฒป็™‚ใ•ใ‚Œใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅ‘ฝไบˆๅพŒใ‚„็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚" + "Duchenneๅž‹ใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹ใ€ๅ…ˆๅคฉๅž‹ใซใ‚ใ‚‹ใ‚ˆใ†ใช่‡จๅบŠ่จบๆ–ญ็š„็‰นๅพดใ‚’ๆฌ ใ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซใคใ‘ใ‚‰ใ‚ŒใŸ่‡จๅบŠ่จบๆ–ญๅ" @ja
dcterms:identifier2200494NANDO:2200858
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_043_01.pdf
rdfs:label - "isovaleric acidaemia" + "limb-girdle muscular dystrophy" @en
rdfs:label - "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" + "ใ—ใŸใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00173http://nanbyodata.jp/ontology/NANDO_1200490
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_026/https://www.shouman.jp/disease/details/11_19_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100233
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016971
skos:prefLabel - "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" + "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200495 +
http://nanbyodata.jp/ontology/NANDO_2200859 (rdf:type owl:Class @@ -125576,77 +183495,86 @@

hasNotificationNumber104hasNotificationNumber12
dcterms:description - "ใƒญใ‚คใ‚ทใƒณ็•ฐๅŒ–้Ž็จ‹ใฎไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚’3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซ-CoAใซๅค‰ๆ›ใ™ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใฏไนณๅนผๅ…ๆœŸใซๆ„ŸๆŸ“็—‡็ฝนๆ‚ฃ็ญ‰ใ‚’ๅฅ‘ๆฉŸใซReye็—‡ๅ€™็พคๆง˜็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใŒใ€ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถไพ‹ใ‹ใ‚‰้‡ๅบฆใฎ็™บ้”้…ๆปžไพ‹ใชใฉๅคšๅฝฉใช่‡จๅบŠๅƒใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)2)ใ€‚" + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’ใจใ‚Šใ€้ก”้ข็ญ‹ใ€่‚ฉ็”ฒใ€ไธŠ่…•่ฟ‘ไฝ้ƒจใฎ็ญ‹ใŒไธปใซ้šœๅฎณใ‚’ใ†ใ‘ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200495NANDO:2200859
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_044_01.pdf
rdfs:label - "3-methylcrotonyl-CoA carboxylase deficiency" + "Facioscapulohumeral muscular dystrophy" @en
rdfs:label - "3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ใŒใ‚“ใ‚ใ‚“ใ‘ใ‚“ใ“ใ†ใ˜ใ‚‡ใ†ใ‚ใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1832http://nanbyodata.jp/ontology/NANDO_1200491
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_027/https://www.shouman.jp/disease/details/11_19_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100233
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008861 + skos:altLabel + "FSMD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018950http://purl.obolibrary.org/obo/MONDO_0001347
skos:prefLabel - "3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200496 +
http://nanbyodata.jp/ontology/NANDO_2200860 (rdf:type owl:Class @@ -125654,62 +183582,91 @@

hasNotificationNumber109hasNotificationNumber15
dcterms:description - "ๅฐฟไธญใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธ(๏ผ“MGCA)ใฎ้Žๅ‰ฐๆŽ’ๆณ„ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจใฏI-Vใฎ5ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกๅฐฟไธญMGCAใฎ็”ฑๆฅใŒๆ˜Žใ‚‰ใ‹ใชใฎใฏIๅž‹ใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ(MGCH)ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ไป–ใฎ็—…ๅž‹ใฏใ€MGCAใฎๆŽ’ๆณ„ๅข—ๅŠ ใฏไป–ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใ‚‹ไบŒๆฌก็š„ๅค‰ๅŒ–ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "1960ๅนดใซ็ฆๅฑฑใ‚‰ใซๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงๆ—ฅๆœฌไบบใซๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ๏ผŒ้‡ๅบฆใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผŒ็ฅž็ตŒ็ดฐ่ƒž้Š่ตฐ้šœๅฎณใซใ‚ˆใ‚‹่„ณๅฅ‡ๅฝขใจ้ซ˜้ ปๅบฆใฎ็œผๅˆไฝต็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹๏ผŽ1990ๅนดไปฃใซ9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠ้บไผๅญๅบง(9q31-33)ใฎๅŒๅฎšใซๅผ•ใ็ถšใ๏ผŒๅŽŸๅ› ้บไผๅญfukutin๏ผˆFKTN๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŽFKTN้บไผๅญ็”ฃ็‰ฉใฏฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒณ๏ผˆฮฑ-dystroglycan: ฮฑ-DG๏ผ‰ใฎ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใจ่€ƒใˆใ‚‰ใ‚Œ๏ผŒฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไธ€็พคใซๅฑžใ™ใ‚‹๏ผŽ" @ja
dcterms:identifier2200496NANDO:2200860
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_045_01.pdf
rdfs:label - "Methylglutaconic aciduria" + "Fukuyama type congenital muscular dystrophy" @en
rdfs:label - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" + "ใตใใ‚„ใพใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_028/http://nanbyodata.jp/ontology/NANDO_1200494
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2665
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100233
+ skos:altLabel + "FCMD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009678
skos:prefLabel - "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡" + "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200497 +
http://nanbyodata.jp/ontology/NANDO_2200861 (rdf:type owl:Class @@ -125717,79 +183674,84 @@

hasNotificationNumber103hasNotificationNumber16
dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅญ˜ๅœจใ™ใ‚‹3-hydroxy-3-methylglutaryl-CoA (HMG-CoA)ใƒชใ‚ขใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ใงใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿใจใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€้žใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใจไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ใใŸใ™ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚็ด„ๅŠๆ•ฐใŒๆ–ฐ็”Ÿๅ…ๆœŸใซ๏ผŒใใฎใปใ‹ใฏไนณๅนผๅ…ๆœŸใซๅ˜”ๅใ‚„ๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“็ญ‰ใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใ€‚20๏ผ…ใฏ็™บไฝœๆ™‚ใซๆญปไบกใ™ใ‚‹ใจใ•ใ‚Œใ€็™บ้”้…ๆปžใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ใ€€ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใซใ‚ˆใ‚‹็™บ็—‡ไบˆ้˜ฒใƒป้šœๅฎณไบˆ้˜ฒใŒๅฏ่ƒฝใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใจ่จบๆ–ญใŒใคใ‘ใฐใ€้‡็ฏคใชไฝŽ่ก€็ณ–็™บไฝœใ‚’ๆฅใ•ใฌใ‚ˆใ†ๆณจๆ„ๆทฑใ„ใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" + "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1994ๅนดใซTomรฉใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒๆฌง็ฑณใซ้ ปๅบฆใŒ้ซ˜ใๆ—ฅๆœฌใงใฏ็จ€ใงใ‚ใ‚‹๏ผŽใƒฉใƒŸใƒ‹ใƒณฮฑ2้Ž–ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹LNMA2้บไผๅญใซใ‚ˆใ‚Š๏ผŒใƒฉใƒŸใƒ‹ใƒณ211๏ผˆใƒกใƒญใ‚ทใƒณ๏ผ‰ใฎๅฎŒๅ…จใพใŸใฏ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŽ้ž็ฆๅฑฑๅž‹ใซๅˆ†้กžใ•ใ‚Œ๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽ" @ja
dcterms:identifier2200497NANDO:2200861
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_046_01.pdf
rdfs:label - "3-hydroxy-3-methylglutaric acidaemia" + "merosin-deficient congenital muscular dystrophy" @en
rdfs:label - "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" + "ใ‚ใ‚ใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2509http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4669
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_029/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01958
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_046/
- skos:altLabel - "HMG-CoA lyase deficiency" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100233
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009520http://purl.obolibrary.org/obo/MONDO_0011925
skos:prefLabel - "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" + "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + "ใ†ใ‚‹ใ‚ŠใฒใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira - - + + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200498 +
http://nanbyodata.jp/ontology/NANDO_2200862 (rdf:type owl:Class @@ -125797,79 +183759,102 @@

hasNotificationNumber102hasNotificationNumber10
dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽ" + "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1930ๅนดใซUllrichใŒscleroatonic (sclero: ่ฟ‘ไฝ้–ข็ฏ€ๆ‹˜็ธฎใ€atonic:ใ€€้ ไฝ้–ข็ฏ€้Žไผธๅฑ•) congenital muscular dystrophyใจใ—ใฆๅ ฑๅ‘Šใ—๏ผŒๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎๆฌกใซ้ ปๅบฆใฎ้ซ˜ใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽVIๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ‚ˆใ‚Š๏ผŒ้‡็—‡ๅž‹ใฎUllrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจ่ปฝ็—‡ๅž‹ใฎBethlemๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็”Ÿใ˜ใ‚‹๏ผŽ" @ja
dcterms:identifier2200498NANDO:2200862
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_047_01.pdf
rdfs:label - "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" + "Ullrich congenital muscular dystrophy" @en
rdfs:label - "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4401 + rdfs:label + "ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_030/https://www.shouman.jp/disease/details/11_19_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100233
skos:altLabel - "HMG-CoA synthase deficiency" + "Ullrich disease" + @en
+ skos:altLabel + "Ullrich's disease" @en
+ skos:altLabel + "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
+ skos:altLabel + "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011614http://purl.obolibrary.org/obo/MONDO_0000355
skos:prefLabel - "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + "38ใ‹ใ‚‰44ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200499 +
http://nanbyodata.jp/ontology/NANDO_2200863 (rdf:type owl:Class @@ -125877,79 +183862,62 @@

hasNotificationNumber101
- dcterms:description - "ใ‚ฑใƒˆใƒณไฝ“ใฎ่‚ๅค–็ต„็น”ใงใฎๅˆฉ็”จใซ้‡่ฆใชใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA:3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(SCOT)้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber17
dcterms:identifier2200499NANDO:2200863
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label - "succinyl-CoA:3-ketoacid CoA transferase deficiency" - @en
rdfs:label - "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8934 + rdfs:label + "Other muscular dystrophy" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_031/https://www.shouman.jp/disease/details/11_19_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161
- skos:altLabel - "SCOTๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009492http://nanbyodata.jp/ontology/NANDO_2100233
skos:prefLabel - "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200500 +
http://nanbyodata.jp/ontology/NANDO_2200864 (rdf:type owl:Class @@ -125957,77 +183925,86 @@

hasNotificationNumber106hasNotificationNumber17
dcterms:description - "ใƒ“ใ‚ชใƒใƒณไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ใ‚‚ใ—ใใฏใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Š4็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PCC)ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(MCC)ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PC)ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(ACC)๏ผ‰ใŒๅŒๆ™‚ใซๆดปๆ€งไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ไนณๅนผๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ็ท็งฐใงใ‚ใ‚‹๏ผŽๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹๏ผˆFukuyama type CMD๏ผšFCMD๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„๏ผŽใใฎไป–Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆUllrich congenital muscular dystrophy: UCMD๏ผ‰๏ผŒLMNA้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ใ‚‚ใฎ๏ผˆlamin related CMD๏ผšL-CMD๏ผ‰ใ‚„ใƒกใƒญใ‚ทใƒณๆฌ ๆ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใŒใ€็—…ๅ› ใŒๅŒๅฎšใงใใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹๏ผŽ็ฆๅฑฑๅž‹ใฎ็—…ๅ› ใงใ‚ใ‚‹fukutin้บไผๅญใชใฉใฏ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’ฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจ็ท็งฐใ™ใ‚‹๏ผŽ" @ja
dcterms:identifier2200500NANDO:2200864
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label - "multiple carboxylase deficiency" + "Myotonic dystrophy" @en
rdfs:label - "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ใใ‚“ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2653http://nanbyodata.jp/ontology/NANDO_1200495
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_032/https://www.shouman.jp/disease/details/11_19_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2200863
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009666 + skos:altLabel + "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015454http://purl.obolibrary.org/obo/MONDO_0016107
skos:prefLabel - "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200501 +
http://nanbyodata.jp/ontology/NANDO_2200865 (rdf:type owl:Class @@ -126035,79 +184012,91 @@

hasNotificationNumber98hasNotificationNumber17
dcterms:description - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚" + "่‡จๅบŠ็—‡็Šถใฏใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆDMD๏ผ‰ใซ้กžไผผใ™ใ‚‹ใŒใ€็™บ็—‡ๆ™‚ๆœŸใ‚„้€ฒ่กŒใŒใ‚ˆใ‚Š้…ใใ€ๆญฉ่กŒไธ่ƒฝๆ™‚ๆœŸใฏๅฐ‘ใชใใจใ‚‚15ๆญณไปฅ้™ใงใ‚ใ‚‹๏ผŽDMDใจ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ‚ˆใ†ใชๆ—ฉๆœŸ็™บ็—‡ไพ‹ใ‹ใ‚‰ใ€ๆˆไบบๅพŒๆœŸ็™บ็—‡ใพใง้‡็—‡ๅบฆใซๅน…ใŒใ‚ใ‚‹๏ผŽ็™บ็—‡ใ™ใ‚‹ใจ็ทฉๅพใซ้‹ๅ‹•ๆฉŸ่ƒฝไฝŽไธ‹ใ‚’็คบใ™ใ“ใจใ‚‚ๅคšใ„๏ผŽๅฐๅ…ๆœŸใซใŸใพใŸใพ่กŒใฃใŸๆคœๆŸปใซใ‚ˆใฃใฆๆœช็™บ็—‡ใฎ็Šถๆ…‹ใง้ซ˜CK่ก€็—‡ใ‚’่ชใ‚ใŸใ“ใจใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใซ่‡ณใ‚‹ไพ‹ใ‚‚ๅคšใ„๏ผŽ" @ja
dcterms:identifier2200501NANDO:2200865
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label - "Glutaric acidaemia type 1" + "Becker muscular dystrophy" @en
rdfs:label - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" + "ในใฃใ‹ใƒผใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2268http://nanbyodata.jp/ontology/NANDO_1200489
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_033/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3302
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2200863
skos:altLabel - "Glutaryl-CoA dehydrogenase deficiency" + "BMD" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009281http://purl.obolibrary.org/obo/MONDO_0010311
skos:prefLabel - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" + "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200502 +
http://nanbyodata.jp/ontology/NANDO_2200866 (rdf:type owl:Class @@ -126115,86 +184104,93 @@

hasNotificationNumber99hasNotificationNumber17
dcterms:description - "ใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡๏ผ’ๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ(electron transfer flavoprotein: ETF)ใ‚‚ใ—ใใฏETF่„ฑๆฐด็ด ้…ต็ด (ETF dehydrogenase: ETFDH)ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฐใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡2ๅž‹ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—่‡ดๆญป็š„ใชๆœ€้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏไบŒๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚" + "็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆˆไบบๆœŸใพใงๅน…ๅบƒใ„๏ผŽ้ชจๆ ผ็ญ‹็—‡็Šถไปฅๅค–ใซๅคš่‡“ๅ™จใฎ็—‡็Šถใ‚’ๅˆไฝตใ—ใ†ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ1ๅž‹๏ผˆDM1๏ผ‰ใจ2ๅž‹๏ผˆDM2๏ผ‰ใŒๅญ˜ๅœจใ™ใ‚‹ใŒๆ—ฅๆœฌใงใฏใปใจใ‚“ใฉใŒDM1ใงใ‚ใ‚‹๏ผŽ" @ja
dcterms:identifier2200502NANDO:2200866
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label - "Glutaric acidaemia type 2" + "LMNA-related congenital muscular dystrophy" @en
rdfs:label - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹" + "LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
+ rdfs:label + "ใˆใ‚‹ใˆใ‚€ใˆใฌใˆใƒผใ„ใงใ‚“ใ—ใธใ‚“ใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2269http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7380
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_034/https://www.shouman.jp/disease/details/11_19_048/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2200863
skos:altLabel - "Glutaric aciduria type 2" + "L-CMD" @en
skos:altLabel - "multiple acyl-CoA dehydrogenase deficiency" + "lamin related CMD" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009282http://purl.obolibrary.org/obo/MONDO_0013178
skos:prefLabel - "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹" + "LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200503 +
http://nanbyodata.jp/ontology/NANDO_2200867 (rdf:type owl:Class @@ -126202,72 +184198,91 @@

hasNotificationNumber100hasNotificationNumber52
dcterms:description - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹๏ผˆprimary hyperoxaluria type 1; PH1๏ผ‰ใฏ่‚่‡“ใฎใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒฉใƒ‹ใƒณ๏ผšใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆalanine:glyoxylate aminotransferase: AGT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ๅ†…ใฎใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ…กๅž‹๏ผˆPH2๏ผ‰ใฏ่‚่‡“ใฎใ‚ตใ‚คใƒˆใ‚พใƒซใซๅฑ€ๅœจใ™ใ‚‹ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธ้‚„ๅ…ƒ้…ต็ด /ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ”ใƒซใƒ“ใƒณ้…ธ้‚„ๅ…ƒ้…ต็ด (GRHPR)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใฏใ‚ทใƒฅใ‚ฆ้…ธใฎๅ‰้ง†็‰ฉ่ณชใงใ‚ใ‚Šใ€ไธกๅž‹ใจใ‚‚้Žๅ‰ฐใซ็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ทใƒฅใ‚ฆ้…ธใซใ‚ˆใ‚Šใ€ไธๆบถๆ€งใฎใ‚ทใƒฅใ‚ฆ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใŒ่…Ž่‡“ใ‚’ใฏใ˜ใ‚ๅ…จ่บซใฎ่‡“ๅ™จใซๆฒˆ็€ใ—ใฆๅคš่‡“ๅ™จใซ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœ€่ฟ‘ใ€non-PH1/non-PH2ใฎPHใฎๅฎถ็ณปไพ‹ใงใ€ใƒ›ใƒขๆŽฅๅˆไฝ“ใƒžใƒƒใƒ”ใƒณใ‚ฐๆณ•ใซใ‚ˆใ‚Š10็•ชๆŸ“่‰ฒไฝ“q24.2ใซๅญ˜ๅœจใ™ใ‚‹DHDPSL้บไผๅญใฎๅค‰็•ฐใŒ็ฌฌ๏ผ“ใฎPHใฎ็—…ๅ› ใงใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‹ใ‚‰ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใธใฎไปฃ่ฌ็ตŒ่ทฏใซใ‚ใ‚‹้…ต็ด ่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใจ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200503NANDO:2200867
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_049_01.pdf
rdfs:label - "Primary hyperoxaluria" + "Myotubular myopathy" @en
rdfs:label - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡" + "ใฟใŠใกใ‚…ใถใ‚‰ใƒผใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00117http://nanbyodata.jp/ontology/NANDO_1200481
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_035/https://www.shouman.jp/disease/details/11_20_049/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100234
+ skos:altLabel + "X-linked centronuclear myopathy" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002474http://purl.obolibrary.org/obo/MONDO_0002921
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018947
skos:prefLabel - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡" + "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200504 +
http://nanbyodata.jp/ontology/NANDO_2200868 (rdf:type owl:Class @@ -126275,77 +184290,91 @@

hasNotificationNumber95hasNotificationNumber48
dcterms:description - "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใฎไปฃ่ฌ็ตŒ่ทฏไธŠใซไฝ็ฝฎใ™ใ‚‹ใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ(homogentisic acid, HGA)ใ‚’ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใธใจ่ปขๆ›ใ™ใ‚‹HGA-1,2-ใ‚ธใ‚ชใ‚ญใ‚ทใ‚ฒใƒŠใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™(1)ใ€‚ๆœฌ็—‡ใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใฏใ€ๅฐฟไธญใธใฎHGAใฎๆŽ’ๆณ„ๅข—ๅŠ ใ€HGAใƒใƒชใƒžใƒผใ‚„HGAใฎ้…ธๅŒ–็‰ฉใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚‹็ตๅˆ็น”ใฎ่ค่‰ฒๅค‰ๅŒ–ใ€่„ŠๆคŽใ‚„ๅคง้–ข็ฏ€ใฎ้–ข็ฏ€็‚Žใ€ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๅฟƒ่ก€็ฎก็ณปใธHGAใŒๆฒˆ็€ใ™ใ‚‹ใจใ€ๅคงๅ‹•่„ˆๅผใ‚„ๅƒงๅธฝๅผใฎ้–‰้Ž–ไธๅ…จ็—‡ใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚" + "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200504NANDO:2200868
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_050_01.pdf
rdfs:label - "Alkaptonuria" + "Congenital fiber-type disproportion myopathy" @en
rdfs:label - "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ›ใ‚“ใ„ใตใใ‚“ใจใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1724http://nanbyodata.jp/ontology/NANDO_1200483
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00163http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2697
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_036/https://www.shouman.jp/disease/details/11_20_050/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100234
+ skos:altLabel + "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008753http://purl.obolibrary.org/obo/MONDO_0009711
skos:prefLabel - "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡" + "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200505 +
http://nanbyodata.jp/ontology/NANDO_2200869 (rdf:type owl:Class @@ -126353,79 +184382,79 @@

hasNotificationNumber97hasNotificationNumber50
dcterms:description - "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซใ‚ญใƒŠใƒผใ‚ผ (GK) ๆฌ ๆ็—‡๏ผˆGKD; OMIM #307030๏ผ‰ใฏใ€้ซ˜ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ่ก€็—‡ใจๅฐฟไธญใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๆŽ’ๆณ„ไบข้€ฒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚GK ใซใ‚ˆใฃใฆ็”Ÿๆˆใ™ใ‚‹ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ-3-ใƒชใƒณ้…ธใฏใ€ไธญๆ€ง่„‚่‚ชใชใฉใฎ่„‚่ณชๅˆๆˆใ‚„็ณ–ๆ–ฐ็”ŸใฎๅŸบ่ณชใงใ‚ใ‚Šใ€GKD ๆ‚ฃ่€…ใฏใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใ‚’ไธปๅพดใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใ€‚" + "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200505NANDO:2200869
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_051_01.pdf
rdfs:label - "Glycerol kinase deficiency" + "Nemaline myopathy" @en
rdfs:label - "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡" + "ใญใพใ‚Šใ‚“ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3437http://nanbyodata.jp/ontology/NANDO_1200478
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_037/https://www.shouman.jp/disease/details/11_20_051/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161
- skos:altLabel - "GKD" - @enhttp://nanbyodata.jp/ontology/NANDO_2100234
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010613http://purl.obolibrary.org/obo/MONDO_0018958
skos:prefLabel - "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡" + "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200506 +
http://nanbyodata.jp/ontology/NANDO_2200870 (rdf:type owl:Class @@ -126433,67 +184462,84 @@

hasNotificationNumber105hasNotificationNumber49
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใจใฏใ€่ƒ†ๆฑ้…ธ็”Ÿๅˆๆˆ็ตŒ่ทฏ๏ผˆneutral pathwayใจacidic pathway๏ผ‰ใฎ้บไผๆ€ง้…ต็ด ๆฌ ๆใ‚’1ๆฌกๆ€งใฎ็—…ๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ€ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹็•ฐๅธธ่ƒ†ๆฑ้…ธใ‚‚ใ—ใใฏ่ƒ†ๆฑใ‚ขใƒซใ‚ณใƒผใƒซใฎ่‚็ดฐ่ƒžๅ†…่“„็ฉใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ˜็จฎ้กž๏ผˆ3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡ใ€sterol 27-hydroxylase ๆฌ ๆ็—‡ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡ใ€bile acid-CoA: aminoacid N-acyltransferase ๆฌ ๆ็—‡ใ€bile acid-CoA ligase ๆฌ ๆ็—‡ใ€๏ก-methylacyl CoA racemase ๆฌ ๆ็—‡ใ€cholesterol 7๏ก-hydroxylase ๆฌ ๆ็—‡๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆๆœฌ้‚ฆใงใฏ๏ผ“็จฎ๏ผ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผš3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡3ไพ‹ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡3ไพ‹ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡1ไพ‹๏ผ‰ใ€‚" + "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200506NANDO:2200870
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_052_01.pdf
rdfs:label - "Inborn errors of bile acid metabolism" + "Central core disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ›ใ‚“ใจใ‚‰ใ‚‹ใ“ใ‚ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00628http://nanbyodata.jp/ontology/NANDO_1200479
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_038/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=262
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100234
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007294
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" @ja
- - + - - + + - + - + + "multicore disease" + @en + "ใพใ‚‹ใกใ“ใ‚ใณใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200507 +
http://nanbyodata.jp/ontology/NANDO_2200871 (rdf:type owl:Class @@ -126501,62 +184547,74 @@

hasNotificationNumber111hasNotificationNumber51
dcterms:description - "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใฎ้Ž็จ‹ใงใ€ใ‚ขใƒŸใƒŽๅŸบใŒๅค–ใ‚ŒใŸๅพŒใฎๅˆ†่งฃใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆœ‰ๆฉŸ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹23ใ€œ38ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„่ฃœ้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎๆœ‰ๆฉŸ้…ธใŒไธŠๆ˜‡ใ™ใ‚‹็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200507NANDO:2200871
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_053_01.pdf
rdfs:label - "23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorders of organic acid metabolism" - @en
+ rdfs:label + "ใƒžใƒซใƒใ‚ณใ‚ข็—…" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_039/https://www.shouman.jp/disease/details/11_20_053/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100161http://nanbyodata.jp/ontology/NANDO_2100234
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018948
skos:prefLabel - "23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ใƒžใƒซใƒใ‚ณใ‚ข็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - - - -
http://nanbyodata.jp/ontology/nando#2200508 +
http://nanbyodata.jp/ontology/NANDO_2200872 (rdf:type owl:Class @@ -126564,79 +184622,81 @@

hasNotificationNumber46hasNotificationNumber53
dcterms:description - "ใ‚ซใƒซใƒ‹ใƒใƒณใฏใƒ‘ใƒซใƒŸใƒใƒณ้…ธ(C16)ใซไปฃ่กจใ•ใ‚Œใ‚‹้•ท้Ž–่„‚่‚ช้…ธใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธๅ–ใ‚Š่พผใ‚€ใŸใ‚ใฎ่ผธ้€ไฝ“ใจใ—ใฆๅƒใ๏ผŽๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡ใฏ็ดฐ่ƒž่†œไธŠใซๅฑ€ๅœจใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ (OCTN2)ใฎๆฉŸ่ƒฝไฝŽไธ‹ใŒๅŽŸๅ› ใง๏ผŒ็ดฐ่ƒžๅ†…ใ‚ซใƒซใƒ‹ใƒใƒณใŒๆฌ ไนใ—๏ผŒ็ตๆžœใจใ—ใฆ้•ท้Ž–่„‚่‚ช้…ธไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹" + "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200508NANDO:2200872
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_054_01.pdf
rdfs:label - "Organic cation transporter 2 deficiency" + "Minicore myopathy" @en
rdfs:label - "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡" + "ใฟใซใ“ใ‚ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1892http://nanbyodata.jp/ontology/NANDO_1200480
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_040/https://www.shouman.jp/disease/details/11_20_054/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2100234
skos:altLabel - "Carnitine uptake defect" + "Mini core disease" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008919
skos:prefLabel - "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡" + "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" @ja
- - + - - - - - - + + - + - + + "46ใ‹ใ‚‰51ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200509 +
http://nanbyodata.jp/ontology/NANDO_2200873 (rdf:type owl:Class @@ -126644,72 +184704,62 @@

hasNotificationNumber41
- dcterms:description - "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€่ก€ไธญใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใŒ่‘—ๅข—ใ—ใ€็ทใ‚ซใƒซใƒ‹ใƒใƒณ้‡ใ‚‚ๆญฃๅธธ๏ฝž่ปฝๅบฆๅข—ๅŠ ใ™ใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€ไฝŽใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–็—‡ใจใจใ‚‚ใซReyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹๏ผˆๆณจ1, 2๏ผ‰ใ€‚" - @jahasNotificationNumber54
dcterms:identifier2200509NANDO:2200873
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf
rdfs:label - "Carnitine palmitoyl transferase I deficiency" - @en
rdfs:label - "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" + "46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2691 + rdfs:label + "other congenital structural myopathy" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_041/https://www.shouman.jp/disease/details/11_20_055/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009705http://nanbyodata.jp/ontology/NANDO_2100234
skos:prefLabel - "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" + "46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200510 +
http://nanbyodata.jp/ontology/NANDO_2200874 (rdf:type owl:Class @@ -126717,62 +184767,69 @@

hasNotificationNumber42
- dcterms:description - "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€Reyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber54
dcterms:identifier2200510NANDO:2200874
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf
rdfs:label - "Carnitine palmitoyl transferase II deficiency" + "Congenital neuromuscular disease with uniform type 1 fiber" @en
rdfs:label - "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใœใ‚“ใŸใ„ใท1ใ›ใ‚“ใ„ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_042/https://www.shouman.jp/disease/details/11_20_055/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2200873
+ skos:altLabel + "CNMDU1" + @en
skos:prefLabel - "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡" + "ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200511 +
http://nanbyodata.jp/ontology/NANDO_2200875 (rdf:type owl:Class @@ -126780,72 +184837,72 @@

hasNotificationNumber40
- dcterms:description - "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€้•ท้Ž–ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅ–ใ‚Š่พผใ‚“ใ ใ‚Šใ€CPT2ใซใ‚ˆใฃใฆๅˆ†้›ขใ•ใ‚ŒใŸ้Š้›ขใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅค–ใซ้‹ใณๅ‡บใ™ๅƒใใ‚’ใ—ใฆใ„ใ‚‹CACTใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฏๅˆ†้›ขใ•ใ‚Œใšใซๅˆฉ็”จใงใใšใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใงใฎ่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CPT IIใจใปใผๅŒใ˜็—…ๆ…‹ใ‚’็คบใ™ใ€‚้ฃข้ค“ๆ™‚ใฎไฝŽ่ก€็ณ–ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใŒใŠใ‚‚ใช็—‡็Šถใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber54
dcterms:identifier2200511NANDO:2200875
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf
rdfs:label - "Carnitine-acylcarnitine translocase deficiency" + "reducing body myopathy" @en
rdfs:label - "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" + "ใ‹ใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใŸใ„ใฟใŠใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1891https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00657
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_043/https://www.shouman.jp/disease/details/11_20_055/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2200873
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008918http://purl.obolibrary.org/obo/MONDO_0019948
skos:prefLabel - "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" + "้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200512 +
http://nanbyodata.jp/ontology/NANDO_2200876 (rdf:type owl:Class @@ -126853,72 +184910,98 @@

hasNotificationNumber43hasNotificationNumber22
dcterms:description - "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (very-long-chain acyl-CoA dehydrogenase: VLCAD)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œไธŠๅ†…ๅดใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไธ‰้ ญ้…ต็ด ใจใจใจใ‚‚ใซ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’ๆ‹…ใ†ใ€‚" + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พคใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจๅ…ฑใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚" @ja
dcterms:identifier2200512NANDO:2200876
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_21_056_01.pdf
rdfs:label - "Very-long-chain acyl-CoA dehydrogenase deficiency" + "Schwartz-Jampel syndrome" @en
rdfs:label - "ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1695http://nanbyodata.jp/ontology/NANDO_1200224
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_044/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2703
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_21_056/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2100235
+ skos:altLabel + "SJS" + @en
+ skos:altLabel + "Schwartz-Jampel็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008723http://purl.obolibrary.org/obo/MONDO_0009717
skos:prefLabel - "ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใซใ‚…ใ†ใ˜ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใฟใŠใใ‚ใซใƒผใฆใ‚“ใ‹ใ‚“" + @ja-Hira - - + + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200513 +
http://nanbyodata.jp/ontology/NANDO_2200877 (rdf:type owl:Class @@ -126926,72 +185009,95 @@

hasNotificationNumber48hasNotificationNumber61
dcterms:description - "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆMCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚ไธญ้Ž–๏ผˆ็‚ญ็ด ๆ•ฐ4ใ€œ10๏ผ‰ใฎ็›ด้Ž–ใฎ่„‚่‚ช้…ธใ‚’ไปฃ่ฌใ™ใ‚‹MCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚3ใ€œ4ๆญณไปฅไธ‹ใฎใ€ๆ€ฅๆ€ง็™บ็—‡ใพใงใฏไฝ•ใ‚‰็‰นๅพด็š„ๆ‰€่ฆ‹ใ‚„ๆ—ขๅพ€ใ‚’ใ‚‚ใŸใชใ„ๅฐๅ…ใŒใ€ๆ„ŸๆŸ“ใ‚„้ฃข้ค“ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜/ใƒฉใ‚คๆง˜็—‡ๅ€™็พคๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ„ใฃใŸใ‚“็™บ็—‡ใ™ใ‚‹ใจๆญปไบก็Ž‡ใŒ้ซ˜ใใ€ไนณๅนผๅ…็ช็„ถๆญป็—‡ๅ€™็พค๏ผˆSIDS๏ผ‰ใฎไธ€ๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚Œใ‚Œใฐใ€้ฃข้ค“ใ‚’้ฟใ‘ใ‚‹้ฃŸไบ‹ๆŒ‡ๅฐŽใงใปใผๅฎŒๅ…จใซ็™บ็—‡ไบˆ้˜ฒใŒใงใใ‚‹ใ€‚" + "ไนณๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚Šใ€ๅ…ฅๆตดใ‚„็™บ็†ฑใง่ช˜็™บใ•ใ‚Œใ‚„ใ™ใ„็„ฆ็‚นๆ€งใ€็‰‡ๅดๆ€งใ‚‚ใ—ใใฏๅ…จ่ˆฌๆ€งใฎ้–“ไปฃๆ€งใ‘ใ„ใ‚Œใ‚“็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€้‡็ฉใƒป็พค็™บๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚1ๆญณ้ ƒใ‚ˆใ‚Šใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใฎใฟใชใ‚‰ใšใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใŒๅ‡บ็พใ—ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใ‚‚ๅœๆปžใ™ใ‚‹ใ€‚ใพใŸไธ€้ƒจใฎไพ‹ใงใฏๅ…‰ใƒปๅ›ณๅฝข้Žๆ•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่ˆฌๆ€งใ‚„็‰‡ๅดๆ€งใฎใ‘ใ„ใ‚Œใ‚“็™บไฝœใจ่ค‡้›‘้ƒจๅˆ†็™บไฝœใฎใฟๅ‘ˆใ—ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ‚’ไฝตๅญ˜ใ—ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ70-80๏ผ…ใฎ็—‡ไพ‹ใงใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ้บไผๅญSCN1Aใฎใƒ˜ใƒ†ใƒญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏๅญฆ็ซฅๆœŸไปฅ้™ใซ่ปฝๆธ›ๅ‚พๅ‘ใจใชใ‚‹ใŒใ€ๅคฑ่ชฟใ‚„ไธๅ™จ็”จ๏ผŒๅคšๅ‹•๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚„่‡ช้–‰ๆ€ง้šœๅฎณใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็”Ÿ็Ž‡ใฏ2๏ฝž4ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚1989ๅนดใฎๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใงใฏๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใจ้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใฎไธก่€…ใฎ็‰นๅพดใ‚’ไฝตๆœ‰ใ™ใ‚‹ๆœชๆฑบๅฎšใฆใ‚“ใ‹ใ‚“ใซใ€2010ๅนดๅˆ†้กž่ฉฆๆกˆใงใฏไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใซๅซใพใ‚Œใ‚‹ใ€‚ใ‹ใฃใฆใฏไนณๅ…ๆœŸ็™บ็—‡ใงใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚ˆใ‚Šไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจๅ‘ผใฐใ‚ŒใŸใŒใ€ๅฟ…ใšใ—ใ‚‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†็—‡ไพ‹ใฐใ‹ใ‚Šใงใฏใชใ„ใ“ใจใ€ไนณๅ…ๆœŸ็™บ็—‡ใงใฏใ‚ใ‚‹ใŒๆˆไบบๆœŸใพใง็ถšใ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚‹ใ“ใจใ‚ˆใ‚Šใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ๅ€™็พคใ‚’ๆๅ”ฑใ—ใŸDravet ใฎๅใซๅ› ใ‚“ใงDravet็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200513NANDO:2200877
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_22_057_01.pdf
rdfs:label - "Medium-chain acyl-CoA dehydrogenase deficiency" + "Severe myoclonic epilepsy in infancy" @en
rdfs:label - "ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1692 + rdfs:label + "ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_045/https://www.shouman.jp/disease/details/11_22_057/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2100236
+ skos:altLabel + "Dravet syndrome" + @en
+ skos:altLabel + "Dravet็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008721http://purl.obolibrary.org/obo/MONDO_0100135
skos:prefLabel - "ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200514 +
http://nanbyodata.jp/ontology/NANDO_2200878 (rdf:type owl:Class @@ -126999,72 +185105,86 @@

hasNotificationNumber47hasNotificationNumber60
dcterms:description - "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎฮฒ้…ธๅŒ–ใ‚’่งฆๅช’ใ™ใ‚‹SCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚่ก€ไธญใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4ใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใจๅฐฟไธญใ‚จใƒใƒซใƒžใƒญใƒณ้…ธใฎๅข—ๅŠ ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€œไนณๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใงๆ€ฅๆ€ง็™บ็—‡ใ—ใŸๆœฌ็–พๆ‚ฃๆ‚ฃๅ…ใฎSCADๆฎ‹ๅญ˜้…ต็ด ๆดปๆ€งใฏ40ใ€œ60%ใงใ‚ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ๅ˜็‹ฌใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใฎใงใฏใชใใ€SCAD่›‹็™ฝใฎใƒŸใ‚นใƒ•ใ‚ฉใƒผใƒซใƒ‡ใ‚ฃใƒณใ‚ฐใฎๅฝฑ้Ÿฟใ€ไป–ใฎ้บไผๅ› ๅญใ‚„็’ฐๅขƒๅ› ๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใชใฉใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใงใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็—‡ไพ‹ใงใฏใ€้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚„้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใฆใ‚‚ๅคง้ƒจๅˆ†ใŒ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใŸใ‚ใ€ใ‚ใŒๅ›ฝใงใฏใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚" + "ๆฌง็ฑณใงใฏinfantile spasmsใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใใฎๆˆๅ› ใฏๅคšๅฝฉใงใ‚ใ‚Šใ€ๅ‡บ็”Ÿๅ‰็”ฑๆฅใฎ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใ‹ใ‚‰ๅพŒๅคฉ็š„ใชๆ€ฅๆ€ง่„ณ็‚ŽๅพŒ้บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅ‰ใฎ็™บ้”ใฏใ€้‡ๅบฆใฎ้…ใ‚ŒใŒใ‚ใ‚‹ๅ ดๅˆใ‹ใ‚‰ๆญฃๅธธ็™บ้”ใพใงใ‚ใ‚‹ใ€‚ๅฅฝ็™บๅนด้ฝขใฏ1ๆญณไปฅไธ‹ใงใ€2ๆญณไปฅไธŠใฏ็จ€ใงใ‚ใ‚‹ใ€‚ใใฎ็™บไฝœใฏ็‰น็•ฐใงใ‚ใ‚Šใ€ๅบงไฝใ‚„็ซ‹ไฝใงใฏ้ ญ้ƒจใ‚’ไธ€็žฌๅž‚ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๆœฌใงใฏ็‚น้ ญใฆใ‚“ใ‹ใ‚“็™บไฝœใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใซๅˆ†้กžใ•ใ‚ŒใŸใ‚Šใ€ๅผท็›ด็™บไฝœใซ่ฟ‘ใ„ใจใ„ใ†ใ“ใจใงๅผท็›ดใ‚นใƒ‘ใ‚นใƒ ใ‚นใจๅ‘ผใฐใ‚ŒใŸใ‚Šใ—ใŸๆ™‚ๆœŸใ‚‚ใ‚ใฃใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็‹ฌ็ซ‹ใ—ใŸ็™บไฝœๅž‹ๆฆ‚ๅฟตใจใ—ใฆใ€Œใฆใ‚“ใ‹ใ‚“ๆ€งใ‚นใƒ‘ใ‚นใƒ ใ‚น๏ผˆEpileptic spasms: ES๏ผ‰ใ€ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็™บไฝœใฏๅ˜็‹ฌใงใ‚‚ๅ‡บ็พใ™ใ‚‹ใŒใ€ๅคšใใฏใ€Œใ‚ทใƒชใƒผใ‚บๅฝขๆˆใ€ใจ็งฐใ•ใ‚Œใ‚‹ๆง˜ใซๅ‘จๆœŸๆ€ง๏ผˆ5-10็ง’ๆฏŽ๏ผ‰ใซๅ‡บ็พใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚่„ณๆณขๆ‰€่ฆ‹ใ‚‚็‰นๅพด็š„ใงใ€Gibbsใ‚‰ใซใ‚ˆใ‚Šใ€Œใƒ’ใƒ—ใ‚นใ‚ขใƒชใ‚นใƒŸใ‚ขใ€ใจๅ‘ฝๅใ•ใ‚ŒใŸ็„ก็งฉๅบใช้ซ˜ๆŒฏๅน…ๅพๆณขใจๆฃ˜ๆณขใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹็‰น็•ฐใช็™บไฝœ้–“ๆฌ ๆœŸ่„ณๆณขใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ฆš้†’ๆ™‚ใ€็ก็œ ๆ™‚ใ‚’ๅ•ใ‚ใšใปใผ้€ฃ็ถšใ—ใฆ้ซ˜ๅบฆใฎๅ…จ่ˆฌๆ€ง็•ฐๅธธๆณขใŒๅ‡บ็พใ—ใ€West็—‡ๅ€™็พคใŒๅฑžใ™ใ‚‹ใ€Œใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€ใฎๆฆ‚ๅฟตใฎไธญๆ ธใ‚’ๆˆใ™ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚็™บไฝœไบˆๅพŒใ€็Ÿฅ็š„ไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใ€ๆ€ฅ้€Ÿใช็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎๅœๆญขใ‚„้€€่กŒใฏไธๅฏ้€†ๆ€งใฎๅ ดๅˆใŒๅคšใ„ใ€‚ๆฒป็™‚ๆณ•ใซใฏ้™็•ŒใŒใ‚ใ‚‹ใŒใ€ใƒใ‚คใ‚ฌใƒใƒˆใƒชใƒณใ‚„ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocorticotropic hormone: ACTH)็™‚ๆณ•ใŒๆœฌ็—‡ๅ€™็พคๆฒป็™‚ใฎไธปๆตใ‚’ๆˆใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200514NANDO:2200878
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_22_058_01.pdf
rdfs:label - "Short-chain acyl-CoA dehydrogenase deficiency" + "West syndrome" @en
rdfs:label - "็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ใ†ใˆใ™ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1694http://nanbyodata.jp/ontology/NANDO_1200592
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_046/https://www.shouman.jp/disease/details/11_22_058/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2100236
+ skos:altLabel + "็‚น้ ญใฆใ‚“ใ‹ใ‚“" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008722http://purl.obolibrary.org/obo/MONDO_0018097
skos:prefLabel - "็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200515 +
http://nanbyodata.jp/ontology/NANDO_2200879 (rdf:type owl:Class @@ -127072,72 +185192,91 @@

hasNotificationNumber44hasNotificationNumber62
dcterms:description - "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธ‰้ ญ้…ต็ด ๏ผˆTFP๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ—ใ€ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆVLCAD๏ผ‰ใซๅผ•ใ็ถšใ„ใฆ็‚ญ็ด ้Ž–16ใ€œ12ไป˜่ฟ‘ใฎ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’่กŒใ†ใ€้•ท้Ž–ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆLCEH๏ผ‰ใ€้•ท้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆLCHAD๏ผ‰ใ€้•ท้Ž–3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆLCKT๏ผ‰ใฎ3ใคใฎใƒ‰ใƒกใ‚คใƒณใ‚’ใ‚‚ใค้…ต็ด ่›‹็™ฝใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰3ใคใฎ้…ต็ด ๆดปๆ€งใŒใ™ในใฆๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’TFPๆฌ ๆ็—‡ใ€LCHADๆดปๆ€งใฎใฟๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’LCHADๆฌ ๆ็—‡ใจใ‚ˆใถใ€‚ใ‚ใŒๅ›ฝใงใฏTFPๆฌ ๆ็—‡ใฎๅ ฑๅ‘ŠใŒๅคšใใ€LCHADๆฌ ๆ็—‡ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚" + "2็จฎ้กžไปฅไธŠใฎ็Ÿญใ„ๅ…จ่ˆฌ็™บไฝœใจใ€่„ณๆณขใง3Hzใ‚ˆใ‚Š้…ใ„ๅบƒๆฑŽๆ€ง็ทฉๅพๆ€งๆฃ˜ๅพๆณขใจ็ก็œ ๆ™‚ใฎๅ…จ่ˆฌๆ€ง้€Ÿๆณขๅพ‹ๅ‹•๏ผˆrapid rhythmใ€ๅ›ฝ้š›็š„ใซใฏburst of fast rhythm generalized paroxysmal fast activity๏ผ‰ใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€็™บไฝœใฏๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚Š๏ผˆ้•ทๆœŸใฎ็™บไฝœๆŠ‘ๅˆถใฏ็ด„5%๏ผ‰ใ€็Ÿฅ็š„้šœๅฎณใŒใปใผ100๏ผ…ใจใชใ‚‹ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃๅ๏ผˆILAE๏ผ‰ใฎ1989ๅนดๅˆ†้กžใงใฏใ€ๆฝœๅ› ๆ€งใพใŸใฏ็—‡ๅ€™ๆ€งๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใŠใ‚‚ใซๅนผๅ…ๆœŸ๏ผˆ1๏ฝž8ๆญณใ€ใƒ”ใƒผใ‚ฏใฏ3๏ฝž5ๆญณ๏ผ‰ใซ็™บ็—‡ใ‚ใ‚‹ใ„ใฏไป–ใฎใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค๏ผˆ็‰นใซWest็—‡ๅ€™็พค๏ผ‰ใ‹ใ‚‰ๅค‰ๅฎนใ™ใ‚‹ใ€‚2ๆญณไปฅๅ‰ใฎ็™บ็—‡ใ‚‚20๏ผ…ใฏใ‚ใ‚‹ใŒใ€10ๆญณไปฅ้™ใฎ็™บ็—‡ใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใซ50๏ฝž75๏ผ…ใฎไพ‹ใงใ‘ใ„ใ‚Œใ‚“ๆ€งใ‚ใ‚‹ใ„ใฏ้žใ‘ใ„ใ‚Œใ‚“ๆ€งใฎใฆใ‚“ใ‹ใ‚“้‡็ฉใ‚’็ตŒ้จ“ใ—ใ€ใ—ใฐใ—ใฐ็ฒพ็ฅž้‹ๅ‹•้€€่กŒใ‚’็คบใ™ใ€‚" @ja
dcterms:identifier2200515NANDO:2200879
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_22_059_01.pdf
rdfs:label - "Trifunctional protein deficiency" + "Lennox-Gastaut syndrome" @en
rdfs:label - "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚Œใฎใฃใใ™ใƒปใŒใ™ใจใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6449http://nanbyodata.jp/ontology/NANDO_1200591
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_047/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4447
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_22_059/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2100236
+ skos:altLabel + "Lennox-Gastaut็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012172http://purl.obolibrary.org/obo/MONDO_0016532
skos:prefLabel - "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" + "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200516 +
http://nanbyodata.jp/ontology/NANDO_2200880 (rdf:type owl:Class @@ -127145,62 +185284,86 @@

hasNotificationNumber45hasNotificationNumber29
dcterms:description - "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (3-hydroxy acyl-CoA dehydrogenase ๏ผšHADH)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไป–ใฎฮฒ้…ธๅŒ–้…ต็ด ็พคใจๅ”ๅƒใ—ใฆไธญใƒป็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎไปฃ่ฌใ‚’ๆ‹…ๅฝ“ใ—ใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏ็Ÿญ้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCHAD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใฆใ„ใŸใ€‚HADHๆฌ ๆ็—‡ใฏใ€ไธญ้Ž–ใ€็Ÿญ้Ž–ใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoAใŒ่“„็ฉใ—ใ€่ก€ไธญ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4-OHใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใŒใŠใ‚‚ใซๅข—ๅŠ ใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณๆ€งไฝŽ่ก€็ณ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใฏใ€HADHใŒใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆGDH๏ผ‰ใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚Šใ€HADHๆฌ ๆ็—‡ใงใฏGDHๆดปๆ€งใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใจใชใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ปๅบฆใŒๆฅตใ‚ใฆไฝŽใใ€ๅฝ้™ฝๆ€ง็Ž‡ใŒ็›ธๅฏพ็š„ใซ้ซ˜ใ„ใŸใ‚ใ€็พๅœจใ€ใ‚ใŒๅ›ฝใงใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚" + "Unverricht-Lundborg็—…ใฏใ‚ทใ‚นใ‚ฟใƒใƒณB๏ผˆCSTB๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฎไธ€็—…ๅž‹ใงใ‚ใ‚‹ใ€‚ๅญฆ้ฝขๆœŸ๏ผˆ6ใ€œ15ๆญณ้ ƒ๏ผ‰ใซ็™บ็—‡ใ—ใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น็™บไฝœใ€ๅฐ่„ณๅคฑ่ชฟ็—‡็Šถใ€่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚็™บไฝœใฏ่บซไฝ“ๆดปๅ‹•ใ€็ฒพ็ฅž็š„ใ‚นใƒˆใƒฌใ‚นใ€ๅ…‰ๅˆบๆฟ€ใชใฉใซใ‚ˆใฃใฆ่ช˜็™บใ•ใ‚Œใ€็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใซใ‚ˆใ‚Š5ใ€œ10ๅนดใงๆญฉ่กŒๅ›ฐ้›ฃใจใชใ‚‹ใจใ•ใ‚ŒใฆใใŸใŒใ€่ฟ‘ๅนด่–ฌ็‰ฉ็™‚ๆณ•ใฎ้€ฒๆญฉใชใฉใซใ‚ˆใ‚Šๆญฉ่กŒไบˆๅพŒใŒๆ”นๅ–„ใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200516NANDO:2200880
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_23_060_01.pdf
rdfs:label - "3-hydroxy acyl-CoA dehydrogenase deficiency" + "Unverricht-Lundborg disease" @en
rdfs:label - "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ใ†ใ‚“ใตใ‡ใ‚‹ใ‚Šใฒใจใƒปใ‚‹ใ‚“ใจใผใ‚‹ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_048/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2684
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_23_060/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2100237
+ skos:altLabel + "Unverricht-Lundborg็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009698
skos:prefLabel - "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—…" @ja
- - + - - + + - + - + + "Lafora disease" + @en + "ใ‚‰ใตใ‰ใ‚‰ใณใ‚‡ใ†" + @ja-Hira + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200517 +
http://nanbyodata.jp/ontology/NANDO_2200881 (rdf:type owl:Class @@ -127208,62 +185371,91 @@

hasNotificationNumber49hasNotificationNumber30
dcterms:description - "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่„‚่‚ช้…ธฮฒ้…ธๅŒ–ใซใ‚ˆใฃใฆ่„‚่‚ชใ‹ใ‚‰ใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ™้Ž็จ‹ใซ้–ขใ‚ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใ‚„้‹ๅ‹•ๆ™‚ใซใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚Šใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹40ใ€œ48ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่„‚่‚ช้…ธไปฃ่ฌใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonic epilepsy๏ผšPME๏ผ‰ใฎๅŽŸๅ› ็–พๆ‚ฃใฎไธ€ใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™้€ฒ่กŒๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใ€‚็ฅž็ตŒ็ดฐ่ƒžใ‚„ๅฟƒ็ญ‹็ดฐ่ƒžใซperiodic acid Schiff๏ผˆPAS๏ผ‰ๆŸ“่‰ฒ้™ฝๆ€งใฎๅ‡้›†ไฝ“ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฅๅ‰ใฏ็šฎ่†šใ‚„็ฅž็ตŒ็”Ÿๆคœใงใƒฉใƒ•ใ‚ฉใƒฉ๏ผˆLafora๏ผ‰ๅฐไฝ“ใ‚’่จผๆ˜Žใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚่ฟ‘ๅนดใ€ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œไธ€้ƒจใฎๅฐ‚้–€ๆ–ฝ่จญใงใฏ้บไผๅญ่จบๆ–ญใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200517NANDO:2200881
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_03_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_23_061_01.pdf
rdfs:label - "40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorders of fatty-acid metabolism" - @en
+ rdfs:label + "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_049/http://nanbyodata.jp/ontology/NANDO_1200955
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2683
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_23_061/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100162http://nanbyodata.jp/ontology/NANDO_2100237
+ skos:altLabel + "Lafora็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009697
skos:prefLabel - "40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡" + "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" @ja
- - + - - + + - + - + + "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200518 +
http://nanbyodata.jp/ontology/NANDO_2200882 (rdf:type owl:Class @@ -127271,82 +185463,86 @@

hasNotificationNumber88hasNotificationNumber36
dcterms:description - "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“๏ผˆPDHC๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ—ใ€ๅซŒๆฐ—ๆ€ง่งฃ็ณ–็ณปใงใƒ–ใƒ‰ใ‚ฆ็ณ–ใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใƒ”ใƒซใƒ“ใƒณ้…ธใ‚’ใ‚ขใ‚ปใƒใƒซ-CoAใซๅค‰ๆ›ใ—ใฆTCAๅ›ž่ทฏใซ้€ใ‚Š่พผใ‚€ใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎใŸใ‚ใซ้žๅธธใซๅคงๅˆ‡ใช้…ต็ด ่ค‡ๅˆไฝ“ใงใ‚ใ‚‹๏ผˆๅ›ณ1๏ผ‰1)ใ€‚ๅพ“ใฃใฆๆœฌๆฌ ๆ็—‡ใงใฏใ‚ขใ‚ปใƒใƒซ-CoAไธ่ถณใซใ‚ˆใ‚ŠTCAใ‚ตใ‚คใ‚ฏใƒซใŒๅ›žใ‚‰ใชใใชใ‚Šใ€ใใฎ็ตๆžœใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใงใฎATP็”ฃ็”ŸใŒไฝŽไธ‹ใ—็ต„็น”ใƒป่‡“ๅ™จใŒใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚‹ใ€‚ใ•ใ‚‰ใซๅŸบ่ณชใงใ‚ใ‚‹ใƒ”ใƒซใƒ“ใƒณ้…ธใŒ่“„็ฉใ—ไนณ้…ธใซ่ปขๆ›ใ•ใ‚Œใ‚‹็ตๆžœใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใŒ็”Ÿใšใ‚‹ใ€‚ใคใพใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใจไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซใ‚ˆใ‚‹็ต„็น”้šœๅฎณใŒๆœฌ็—‡ใฎ็—…ๆ…‹ใงใ‚ใ‚‹2)ใ€‚" + "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ ่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ€ไฝ•ใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒใ‚ใ ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใค็‰ฉ๏ผˆ้ž็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200518NANDO:2200882
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_050_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_24_062_01.pdf
rdfs:label - "Pyruvate dehydrogenase complex deficiency" + "Spinocerebellar degeneration" @en
rdfs:label - "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3549 + rdfs:label + "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00072http://nanbyodata.jp/ontology/NANDO_1200037
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_050/https://www.shouman.jp/disease/details/11_24_062/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100238
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010717 + skos:altLabel + "SCD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019169http://purl.obolibrary.org/obo/MONDO_0000437
skos:prefLabel - "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" + "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" @ja
- - + - - + + - + - + + "ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200519 +
http://nanbyodata.jp/ontology/NANDO_2200883 (rdf:type owl:Class @@ -127354,77 +185550,86 @@

hasNotificationNumber87hasNotificationNumber23
dcterms:description - "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ๆฌ ๆ็—‡ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ™ใ‚‹็ณ–ๆ–ฐ็”Ÿ็ณปใฎๅพ‹้€Ÿ้…ต็ด ใงใ‚ใ‚Šใ€ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ—ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‹ใ‚‰ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’็”Ÿๆˆใ™ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰ใ€‚่‡จๅบŠ็—‡็Šถใ‚’ๅฝขไฝœใ‚‹ใฎใฏใ€ไฝŽ่ก€็ณ–ใจใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธไฝŽๅ€คใŒใ‚‚ใŸใ‚‰ใ™TCAๅ›ž่ทฏใฎไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใ€ใ•ใ‚‰ใซ้‡็—‡ไพ‹ใงใฏใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธ็”ฑๆฅใฎใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใฎไธ่ถณใซใ‚ˆใ‚‹ๅฐฟ็ด ๅ›ž่ทฏไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚‚ๅ•้กŒใซใชใ‚‹1)ใ€‚" + "ไนณๅ…ๆœŸใ‹ใ‚‰ๅนผๅ…ๆœŸๅˆใ‚ใพใงใซ็™บ็—‡ใ™ใ‚‹ๅทฆๅณไธๅฎšใฎไธ€้Žๆ€ง้บป็—บ็—‡็Šถใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚็Ÿฅ็š„้šœๅฎณใจ้‹ๅ‹•้šœๅฎณใ‚’ไผดใ†ใ€‚" @ja
dcterms:identifier2200519NANDO:2200883
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_25_063_01.pdf
rdfs:label - "Pyruvate carboxylase deficiency" + "alternating hemiplegia of childhood" @en
rdfs:label - "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2936 + rdfs:label + "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00073http://nanbyodata.jp/ontology/NANDO_1200525
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_051/https://www.shouman.jp/disease/details/11_25_063/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100239
+ skos:altLabel + "AHC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009949http://purl.obolibrary.org/obo/MONDO_0016241
skos:prefLabel - "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" @ja
- - + - - + + - + - + + "ใธใ‚“ใ‘ใ„ใ›ใ„ใใ‚“ใ˜ใ™ใจใซใƒผ" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200520 +
http://nanbyodata.jp/ontology/NANDO_2200884 (rdf:type owl:Class @@ -127432,77 +185637,79 @@

hasNotificationNumber89hasNotificationNumber77
dcterms:description - "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ•ใƒžใƒซ้…ธใ‚’ใƒชใƒณใ‚ด้…ธใซๅค‰ๆ›ใ™ใ‚‹TCAๅ›ž่ทฏใฎไธป่ฆๆง‹ๆˆ้…ต็ด ใงใ‚ใ‚‹ใƒ•ใƒžใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰1)ใ€‚่„ณๅฅ‡ๅฝขใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใฎ้‡็ฏคใชไธญๆžข็ฅž็ตŒ็—‡็Šถใจใ€ใƒ•ใƒžใƒซ้…ธใฎๅฐฟไธญๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + "ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใฏใ€ๆŒ็ถšๆ€งใพใŸใฏๅๅพฉๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚‹็•ฐๅธธๅงฟๅ‹ขใ‚„ไธ้šๆ„้‹ๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹้‹ๅ‹•็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใƒผใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃ็พคใฎๅ†…ใงใ€่„ณใฎๅ™จ่ณช็š„็—…ๅค‰ใ‚„ๅค‰ๆ€งใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งใ‚ธใ‚นใƒˆใƒ‹ใƒผใจๅ‘ผใณใ€่ฟ‘ๅนดๆ•ฐๅคšใใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(DYTใ‚ทใƒชใƒผใ‚บ)ใ€‚ใ“ใ“ใงใฏDYTใ‚ทใƒชใƒผใ‚บใซๅซใพใ‚Œใ‚‹็–พๆ‚ฃ็พคใ‚’ใ€ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" @ja
dcterms:identifier2200520NANDO:2200884
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_26_064_01.pdf
rdfs:label - "Fumarase deficiency" + "dystonia musculorum deformans" @en
rdfs:label - "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4495 + rdfs:label + "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02004http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=476
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_052/https://www.shouman.jp/disease/details/11_26_064/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100240
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011730http://purl.obolibrary.org/obo/MONDO_0007492
skos:prefLabel - "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" @ja
- - + - - + + - + - + + + + + - + - + - + - - -
http://nanbyodata.jp/ontology/nando#2200521 +
http://nanbyodata.jp/ontology/NANDO_2200885 (rdf:type owl:Class @@ -127510,125 +185717,102 @@

hasNotificationNumber86hasNotificationNumber76
dcterms:description - "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผ๏ผˆSUCL๏ผ‰ๆฌ ๆ็—‡ใฏใ€TCAใ‚ตใ‚คใ‚ฏใƒซใฎไธ€ๅ› ใงใ‚‚ใ‚ใ‚‹SUCLใฎๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธใจใƒกใƒใƒซใƒžใƒญใƒณ้…ธใฎๅฐฟไธญใธใฎๅฐ‘้‡ๆŽ’ๆณ„ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ1)ใงใ‚ใ‚Šใ€ๅคใใฏใƒกใƒใƒซใƒžใƒญใƒณ้…ธๅฐฟใ‚’ไผดใ†Leigh่„ณ็—‡ใจใ‚ˆใฐใ‚Œใฆใ„ใŸ็–พ็—…ใงใ‚ใ‚‹ใ€‚" + "็€ฌๅท็—…ใฏ1971ๅนดใซ็€ฌๅทใ‚‰1)ใŒใ€ใ€Œ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€งๅคง่„ณๅŸบๅบ•ๆ ธ็–พๆ‚ฃใ€ใจใ—ใฆไธ–็•Œใงใฏใ˜ใ‚ใฆๅฐๅ…ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใ€‚ 1990ๅนดใซ่—ค็”ฐใƒปๆ–ฐๅฎ…2)ใซใ‚ˆใ‚Š็€ฌๅท็—…ๆ‚ฃ่€…ใฎ้ซ„ๆถฒไธญใƒ—ใƒ†ใƒชใ‚ธใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ GTPใ‚ทใ‚ฏใƒญใ‚ทใƒ‰ใƒญใƒฉใƒผใ‚ผโ… ๏ผˆGTPCH๏ผ‰ๆดปๆ€งใฎไฝŽไธ‹ใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใŸใŒใ€1994ๅนดใซไธ€็€ฌใ‚‰3)ใซใ‚ˆใ‚Š ็€ฌๅท็—…ๆ‚ฃ่€…ใงGTPCH้บไผๅญ๏ผˆGCH1๏ผ‰ใฎๅค‰็•ฐใŒ็‰‡ๆ–นใฎใ‚ขใƒชใƒซใซ็™บ่ฆ‹ใ•ใ‚Œใ€GTPCHใฎ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใ—ใฆDYT5ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€็—…ๅ› ใฏ่ฃœ้…ต็ด ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅˆๆˆ้šœๅฎณใซใ‚ˆใ‚‹็ฅž็ตŒไผ้”็‰ฉ่ณช็—…ใงใ‚ใ‚Šใ€ ็พๅœจใงใฏๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็ฌฌ14ๆŸ“่‰ฒไฝ“๏ผˆ14q22.1-22.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹GCH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ ้ป’่ณช็ทšๆกไฝ“ใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ณป็ต‚ๆœซ้ƒจใฎใƒ‰ใƒ‘ใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹ๅ›บ็ธฎๅž‹็ญ‹็ทŠๅผต็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขๅงฟๅ‹ขใŠใ‚ˆใณใ‚ธใ‚นใƒˆใƒ‹ใ‚ข้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ ๅ…ธๅž‹ไพ‹ใฏ10ๆญณไปฅไธ‹ใซ็™บ็—‡ใ™ใ‚‹ใŒๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฅณๆ€งๅ„ชไฝใฎๆ€งๅทฎใ‚’ๆœ‰ใ™ใ‚‹๏ผˆ็”ท๏ผšๅฅณ๏ผ1๏ผš4๏ผ‰ใ€‚ ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใจใใซๅฐๅ…ๆœŸใฎๅงฟๅ‹ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200521NANDO:2200885
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_053_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_26_065_01.pdf
rdfs:label - "Succinyl-CoA ligase deficiency" + "Segawa syndrome" @en
rdfs:label - "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡" + "ใ›ใŒใ‚ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็€ฌๅท็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_053/https://www.shouman.jp/disease/details/11_26_065/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100240
- skos:prefLabel + skos:altLabel - "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- - - - - - + "DRD" + @en - + - - - - - - - - + "Dopamine-responsive dystonia" + @en - + - + - - - - + "Hereditary progressive dystonia with diurnal variation" + @en - - + +
http://nanbyodata.jp/ontology/nando#2200522 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber90
- dcterms:description + skos:altLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅฝนๅ‰ฒใฏๅคšๆ•ฐใ‚ใ‚‹ใŒใ€ๆœ€ใ‚‚ๅคงๅˆ‡ใชใฎใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚Šใ€ใใฎๅฝนๅ‰ฒใ‚’ๆ‹…ใ†ใฎใŒๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ใ€ŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“็•ฐๅธธ็—‡๏ผˆMRCD๏ผ‰ใ€ใจ่ชญใฟๆ›ฟใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ใ„ใ‹ใชใ‚‹็—‡็Šถใ€ใ„ใ‹ใชใ‚‹่‡“ๅ™จใƒป็ต„็น”ใ€ใ„ใ‹ใชใ‚‹ๅนด้ฝขใ€ใใ—ใฆใ„ใ‹ใชใ‚‹้บไผๅฝขๅผใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใฎใŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ็ฅž็ตŒใƒป็ญ‹่‚‰ใฎ็—…ๆฐ—ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅฟƒ็ญ‹็—‡ใ€่‚็—‡ใชใฉๅ˜็‹ฌใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ‚‚ๅคšใ„1)ใ€‚" - @ja
- dcterms:identifier2200522
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_054_01.pdf
- rdfs:label + skos:altLabel - "Mitochondrial respiratory chain disorders" + "HPD" @en
- rdfs:label + skos:altLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_054/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016812
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡" + "็€ฌๅท็—…" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200523 +
http://nanbyodata.jp/ontology/NANDO_2200886 (rdf:type owl:Class @@ -127636,67 +185820,91 @@

hasNotificationNumber92hasNotificationNumber75
dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA๏ผˆmtDNA๏ผ‰้‡ใŒไฝ•ใ‹ใฎๅŽŸๅ› ใงๆธ›ๅฐ‘ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใŒ้˜ปๅฎณใ•ใ‚ŒๆฉŸ่ƒฝ้šœๅฎณใฎ่ตทใ“ใ‚‹็–พๆ‚ฃ็พคใ‚’็ท็งฐใ—ใฆmtDNAๆžฏๆธ‡็—‡ๅ€™็พค๏ผšmitochondrial DNA depletion syndrome (MTDPS)ใจ็งฐใ™ใ‚‹ใ€‚ไธ€ๆฌก็š„็—…ๅ› ใฏๆ ธใซใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚Šใ€ใใฎ็ตๆžœใจใ—ใฆไบŒๆฌก็š„ใซmtDNA้‡ใฎๆžฏๆธ‡ใ‚’ไธญๅฟƒใซใ€ๆ™‚ใซๅคš้‡ๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใฎๆง˜ใช็•ฐๅธธใ‚’ใ‚‚ๆฅใŸใ™็–พๆ‚ฃ็พคใงใ€ๆ ธDNAใจmtDNAใฎใ‚ฒใƒŽใƒ ้–“ใ‚ณใƒŸใƒฅใƒ‹ใ‚ฑใƒผใ‚ทใƒงใƒณใฎ้šœๅฎณ๏ผˆdefects in intergenomic communication๏ผ‰ใจ่จ€ใ†ๆฆ‚ๅฟตใงใจใ‚‰ใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚" + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ2 ๏ผˆPANK2๏ผ‰ ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ๏ผˆNeurodegeneration with brain iron accumulation; NBIA๏ผ‰ใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200523NANDO:2200886
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_27_066_01.pdf
rdfs:label - "Mitochondrial DNA depletion syndrome" + "Pantothenate kinase-associated neurodegeneration" @en
rdfs:label - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค" + "ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_055/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2308
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02208
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_27_066/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100241
+ skos:altLabel + "PKAN" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018158http://purl.obolibrary.org/obo/MONDO_0009319
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค" + "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200524 +
http://nanbyodata.jp/ontology/NANDO_2200887 (rdf:type owl:Class @@ -127704,62 +185912,81 @@

hasNotificationNumber93hasNotificationNumber74
dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚" + "็ฌฌ22็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚‹Phospholipase A2, group VI (PLA2G6) ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณๅ†…้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡ (neurodegeneration with brain iron accumulation; NBIA)ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200524NANDO:2200887
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_27_067_01.pdf
rdfs:label - "Diseases due to mitochondrial DNA mutation" + "infantile neuroaxonal dystrophy" @en
rdfs:label - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ" + "ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใ˜ใใ•ใใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_056/https://www.shouman.jp/disease/details/11_27_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100241
+ skos:altLabel + "INAD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009739
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ" + "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - + + + + + + - + - + + "infantile bilateral striatal necrosis" + @en + "ใซใ‚…ใ†ใ˜ใ‚Šใ‚‡ใ†ใใใ›ใ‚“ใ˜ใ‚‡ใ†ใŸใ„ใˆใ—" + @ja-Hira - - + + - + - + + "IBSN" + @en - +
http://nanbyodata.jp/ontology/nando#2200525 +
http://nanbyodata.jp/ontology/NANDO_2200888 (rdf:type owl:Class @@ -127767,72 +185994,81 @@

hasNotificationNumber93hasNotificationNumber64
+ dcterms:description + "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ€้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ไธปใจใ™ใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’็”Ÿใ˜ใ€ไธกๅด็ทšๆกไฝ“ใฎๅค‰ๆ€งใƒปๅฃŠๆญปใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ใ‚ฆใ‚คใƒซใ‚นใ‚„ใƒžใ‚คใ‚ณใƒ—ใƒฉใ‚บใƒžใฎๆ„ŸๆŸ“ใซไผดใ„ๆ€ฅๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใจใ€้บไผๆ€ง็–พๆ‚ฃใซๅŸบใฅใไบœๆ€ฅๆ€งใชใ„ใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใŒใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏๅฐๅ…ๆ…ขๆ€ง็–พๆ‚ฃใฎๅฏพ่ฑกใจใชใ‚‹ๅพŒ่€…ใซใคใ„ใฆ่ฟฐในใ‚‹ใ€‚" + @ja
dcterms:identifier2200525NANDO:2200888
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_28_068_01.pdf
rdfs:label - "MELAS" - @ja
rdfs:label - "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3605 + rdfs:label + "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_056/https://www.shouman.jp/disease/details/11_28_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200524http://nanbyodata.jp/ontology/NANDO_2100242
skos:altLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010789http://purl.obolibrary.org/obo/MONDO_0015518
skos:prefLabel - "MELAS" + "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" @ja
- - + - - + + + + + + - + - + + "Congenital herpes simplex virus infection" + @en + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใธใ‚‹ใบใ™ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200526 +
http://nanbyodata.jp/ontology/NANDO_2200889 (rdf:type owl:Class @@ -127840,62 +186076,74 @@

hasNotificationNumber93hasNotificationNumber44
+ dcterms:description + "ๆ–ฐ็”Ÿๅ…ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผˆherpes simplex virus๏ผšHSV๏ผ‰ๆ„ŸๆŸ“็—‡ใฏใ€ๅˆ†ๅจฉๅ‰ๅพŒใฎHSVใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใ€‚ๆฐด็–ฑใชใฉใฎ็šฎ่†š็—…ๅค‰ใ€็œผ็ƒใƒปๅฃ่…”็ฒ˜่†œ็—…ๅค‰ใซๅŠ ใˆใฆใ€็—…ๅž‹ใซใ‚ˆใฃใฆใฏ่„ณ็‚Žใ€่‚้šœๅฎณใชใฉใฎ่‡“ๅ™จ็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใ‚ฆใ‚คใƒซใ‚นๅŸน้คŠใ€HSV้บไผๅญๅŒๅฎšใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚้ซ˜็”จ้‡ใฎใ‚ขใ‚ทใ‚ฏใƒญใƒ“ใƒซ้™ๆณจ็™‚ๆณ•ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่‡ดๆญป็Ž‡ใ€็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡็Ž‡ใจใ‚‚้ซ˜ใ„ใ€‚" + @ja
dcterms:identifier2200526NANDO:2200889
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_29_069_01.pdf
rdfs:label - "MERRF" - @ja
rdfs:label - "Myoclonus epilepsy associated with ragged-red fibers" - @en
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_056/https://www.shouman.jp/disease/details/11_29_069/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200524http://nanbyodata.jp/ontology/NANDO_2100243
- skos:altLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017381
skos:prefLabel - "MERRF" + "ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" @ja
- - + - - + + + + + + - + - + - - - - + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200527 +
http://nanbyodata.jp/ontology/NANDO_2200890 (rdf:type owl:Class @@ -127903,70 +186151,79 @@

hasNotificationNumber93hasNotificationNumber43
+ dcterms:description + "้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ—ๅ…็–ซใฎใชใ„ๅฅณๆ€งใŒๅฆŠๅจ ๅˆๆœŸใซ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๆ„ŸๆŸ“ใ—ใ€ใ‚ฆใ‚คใƒซใ‚นใŒ่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‡บ็”Ÿๅ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃ่ดใ€็™ฝๅ†…้šœใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใ‚’็ท็งฐใ—ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค๏ผˆcongenital rubella syndrome๏ผšCRS๏ผ‰ใจๅ‘ผใถใ€‚่‚่„พ็จฎใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็™บ่‚ฒ้šœๅฎณใชใฉใ‚‚็”Ÿใ˜ใ‚‹ใ€‚้ขจ็–นใฎๆต่กŒๆœŸใŒๆ˜ฅใ‹ใ‚‰ๅˆๅคใงใ‚ใ‚‹ใŸใ‚ใ€CRSๅ…ใฏ็ง‹ใ‹ใ‚‰ๅ†ฌใซ็”Ÿใพใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ„ŸๆŸ“็—‡ๆณ•๏ผˆ2012ๅนดๆ›ดๆ–ฐ๏ผ‰ใงใฏใ€CRSใฏๅ…จๆ•ฐๅ ฑๅ‘Šๅฏพ่ฑก๏ผˆ5้กžๆ„ŸๆŸ“็—‡๏ผ‰ใงใ‚ใ‚Šใ€ๅŒปๅธซใฏ่จบๆ–ญๅพŒ7ๆ—ฅไปฅๅ†…ใซไฟๅฅๆ‰€ใซๅฑŠใ‘ๅ‡บใชใ‘ใ‚Œใฐใชใ‚‰ใชใ„ใ€‚" + @ja
dcterms:identifier2200527NANDO:2200890
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_29_070_01.pdf
rdfs:label - "Leigh disease" + "congenital rubella syndrome" @en
rdfs:label - "ใƒชใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2709
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01354 + rdfs:label + "ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_056/https://www.shouman.jp/disease/details/11_29_070/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200524http://nanbyodata.jp/ontology/NANDO_2100243
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009723http://purl.obolibrary.org/obo/MONDO_0005713
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017361
skos:prefLabel - "ใƒชใƒผ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200528 +
http://nanbyodata.jp/ontology/NANDO_2200891 (rdf:type owl:Class @@ -127974,62 +186231,74 @@

hasNotificationNumber91hasNotificationNumber41
dcterms:description - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚" + "ๅคšใใฏๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใŒๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŠนๆžœ็š„ใชๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใŠใ‚‰ใšใ€ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ้›ฃ่ดใ‚„็™บ้”้šœๅฎณใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200528NANDO:2200891
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_057_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_29_071_01.pdf
rdfs:label - "Diseases due to mitochondrial DNA deletion" + "Congenital cytomegalovirus infection" @en
rdfs:label - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใจใ‚ใŒใ‚ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_057/https://www.shouman.jp/disease/details/11_29_071/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100243
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017409
skos:prefLabel - "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ" + "ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" @ja
- - + - - + + + + + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใจใใใทใ‚‰ใšใพใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200529 +
http://nanbyodata.jp/ontology/NANDO_2200892 (rdf:type owl:Class @@ -128037,65 +186306,74 @@

hasNotificationNumber91hasNotificationNumber42
+ dcterms:description + "ๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ™ใงใซๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ€ ้ซ˜ใ„ๅŠนๆžœใ‚’ๆŒใกๅฎ‰ๅ…จใซๆŠ•ไธŽใงใใ‚‹่–ฌ็‰ฉๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ่ฆ–ๅŠ›้šœๅฎณใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200529NANDO:2200892
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_057_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_29_072_01.pdf
rdfs:label - "Kearns-Sayreย syndrome" + "Congenital toxoplasmosis" @en
rdfs:label - "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3603 + rdfs:label + "ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_057/https://www.shouman.jp/disease/details/11_29_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200528http://nanbyodata.jp/ontology/NANDO_2100243
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010787http://purl.obolibrary.org/obo/MONDO_0005715
skos:prefLabel - "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค" + "ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡" @ja
- - + - - + + - + - + + "Aicardi-Goutiรจres Syndrome" + @en + "ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200530 +
http://nanbyodata.jp/ontology/NANDO_2200893 (rdf:type owl:Class @@ -128103,62 +186381,100 @@

hasNotificationNumber94hasNotificationNumber7
dcterms:description - "ไธ€ใคใฎ็ดฐ่ƒžใซๆ•ฐ็™พๅ€‹ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใŒๅ…ฅใฃใฆใ„ใฆใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏ็ดฐ่ƒžใซๅฟ…่ฆใชใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใจ็ดฐ่ƒžใฎๅƒใใŒๆ‚ชใใชใ‚Šใ€ใ•ใพใ–ใพใช็—‡็ŠถใŒ็พใ‚Œใ‚‹ใ€‚ไฝ“ใฎใฉใ“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ‹ใซใ‚ˆใฃใฆ็—‡็Šถใฏ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹50ใ€œ57ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนดๆ–ฐ่ฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใŒๆฌกใ€…ใซ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใฎใ‚‚ไบ‹ๅฎŸใงใ‚ใ‚‹ใ€‚" + "Aicardi-Goutiรจres็—‡ๅ€™็พค๏ผˆAGS๏ผ‰ใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๅนผๅฐ‘ๆœŸใฎๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„็•ฐๅธธใ€่‚่„พ่…ซใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใ„ใฃใŸๅ…ˆๅคฉๆ„ŸๆŸ“็—‡๏ผˆTORCH็—‡ๅ€™็พค๏ผ‰้กžไผผใฎ็—…ๅƒใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๅคšใใฎๆ‚ฃ่€…ใงใฏๆญฃๅธธ็™บ้”ใฎๆœŸ้–“ใฎๅพŒใซ้ก•ๅœจๅŒ–ใ™ใ‚‹ใชใฉใ€ใใฎ็™บ็—‡ๆ™‚ๆœŸใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๆ˜“ๅˆบๆฟ€ๆ€งใ€้–“ๆฌ ็š„ใช็„ก่Œๆ€ง็™บ็†ฑใ€้ ญไฝๆˆ้•ทใฎไฝŽไธ‹ใ€็™บ้”้€€่กŒใชใฉใซ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€ไบœๆ€ฅๆ€ง็™บ็—‡ใฎ้‡็—‡่„ณ็—‡ใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚็ด„4ๅ‰ฒใฎๆ‚ฃ่€…ใงๆ‰‹ๆŒ‡ใ€่ถณ่ถพใ€่€ณใชใฉใซๅ‡็˜กๆง˜ใฎ็šฎ่†š็—…ๅค‰ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใงใฏใ‚ˆใ‚Š่ปฝ็—‡ใช้žๅ…ธๅž‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚็–พๆ‚ฃ่ƒŒๆ™ฏใจใ—ใฆ่‡ชๅทฑๅ…็–ซๆ€งๆฉŸๅบใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๆฌก็ฌฌใซAGS้–ข้€ฃ้บไผๅญ็พคใฎ็•ฐๅธธใฏ่‡จๅบŠ็š„ใซๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ้šœๅฎณใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200530NANDO:2200893
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_04_058_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label - "50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" - @ja
rdfs:label - "Other mitochondrial diseases" - @en
+ rdfs:label + "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_04_058/http://nanbyodata.jp/ontology/NANDO_1200996
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_30_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100163http://nanbyodata.jp/ontology/NANDO_2100244
+ skos:altLabel + "AGS1" + @en
+ skos:altLabel + "Aicardi-Goutieres็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "TREX1ๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018866
skos:prefLabel - "50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…" + "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200531 +
http://nanbyodata.jp/ontology/NANDO_2200894 (rdf:type owl:Class @@ -128166,79 +186482,86 @@

hasNotificationNumber58
- dcterms:description - "ๆžœ็ณ–ใƒป่”—็ณ–็ญ‰ใ‚’ๅซใ‚€้ฃŸๅ“ๆ‘‚ๅ–ๅพŒใ€็Ÿญๆ™‚้–“ใงๅ‡บ็พใ™ใ‚‹ไฝŽ่ก€็ณ–ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ๏ผˆOMIM #22960๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏ้›ขไนณ้ฃŸๅฐŽๅ…ฅ้ ƒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‚่…Ž็ต„็น”้šœๅฎณใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ—ใฆ่‡ดๆญป็š„ใจใชใ‚Šใ†ใ‚‹ใŒใ€ๅŽŸๅ› ็ณ–่ณชใฎ้™คๅŽป้ฃŸใซใ‚ˆใฃใฆ่ปฝๅฟซใ™ใ‚‹ใ€‚" - @jahasNotificationNumber7
dcterms:identifier2200531NANDO:2200894
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_059_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label - "Hereditary fructose intolerance" + "Aicardi-Goutieres syndrome 2" @en
rdfs:label - "้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡" + "RNASEH2Bๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2238http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6712
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_059/https://www.shouman.jp/disease/details/11_30_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2200893
skos:altLabel - "HFI" + "AGS2" + @en
+ skos:altLabel + "Aicardi-Goutiรจres syndrome 2" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009249http://purl.obolibrary.org/obo/MONDO_0012429
skos:prefLabel - "้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡" + "RNASEH2Bๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200532 +
http://nanbyodata.jp/ontology/NANDO_2200895 (rdf:type owl:Class @@ -128246,77 +186569,86 @@

hasNotificationNumber60
- dcterms:description - "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใงใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใŒ็”Ÿใ˜ใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜็จฎใ€…ใฎ้šœๅฎณใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚" - @jahasNotificationNumber7
dcterms:identifier2200532NANDO:2200895
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_060_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label - "Galactose-1-phosphate uridyltransferase deficiency" + "Aicardi-Goutieres syndrome 3" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "RNASEH2Cๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2246 + rdfs:label + "ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใ—ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02008http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6753
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_060/https://www.shouman.jp/disease/details/11_30_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2200893
+ skos:altLabel + "AGS3" + @en
+ skos:altLabel + "Aicardi-Goutiรจres syndrome 3" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009258http://purl.obolibrary.org/obo/MONDO_0012471
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "RNASEH2Cๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200533 +
http://nanbyodata.jp/ontology/NANDO_2200896 (rdf:type owl:Class @@ -128324,77 +186656,86 @@

hasNotificationNumber61
- dcterms:description - "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฎ่“„็ฉใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚" - @jahasNotificationNumber7
dcterms:identifier2200533NANDO:2200896
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_061_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label - "Galactokinase deficiency" + "Aicardi-Goutieres syndrome 4a" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + "RNASEH2Aๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2243 + rdfs:label + "ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02009http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6754
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_061/https://www.shouman.jp/disease/details/11_30_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2200893
+ skos:altLabel + "AGS4a" + @en
+ skos:altLabel + "Aicardi-Goutiรจres syndrome 4a" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009255http://purl.obolibrary.org/obo/MONDO_0012472
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + "RNASEH2Aๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200534 +
http://nanbyodata.jp/ontology/NANDO_2200897 (rdf:type owl:Class @@ -128402,72 +186743,86 @@

hasNotificationNumber59
- dcterms:description - "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š็”Ÿๆˆใ—ใŸ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผฅ๏ผ‰ใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-๏ผ”-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚ŒใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹ใŒใ€ๅคšใใฏๅ…จ่บซ็—‡็Šถใ‚’็คบใ•ใชใ„้ƒจๅˆ†ๅž‹ใงไบˆๅพŒ่‰ฏๅฅฝใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚" - @jahasNotificationNumber7
dcterms:identifier2200534NANDO:2200897
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_062_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label - "UDP-galactose-4-epimerase deficiency" + "Aicardi-Goutieres syndrome 5" @en
rdfs:label - "ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "SAMHD1ๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใ™ใˆใƒผใˆใ‚€ใˆใ„ใกใงใƒใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2245http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7288
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_062/https://www.shouman.jp/disease/details/11_30_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2200893
+ skos:altLabel + "AGS5" + @en
+ skos:altLabel + "Aicardi-Goutiรจres syndrome 5" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009257http://purl.obolibrary.org/obo/MONDO_0013059
skos:prefLabel - "ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "SAMHD1ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ADAR1ๆฌ ๆ็—‡" + @ja + "Aicardi-Goutieres syndrome 6" + @en - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200535 +
http://nanbyodata.jp/ontology/NANDO_2200898 (rdf:type owl:Class @@ -128475,77 +186830,86 @@

hasNotificationNumber71
- dcterms:description - "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆFBPase๏ผ‰ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ใฎ็ณ–ๆ–ฐ็”ŸใซใŠใ„ใฆใ€ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ไบŒใƒชใƒณ้…ธใ‹ใ‚‰ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-6-ใƒชใƒณ้…ธใธใฎๅค‰ๆ›ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚FBPaseๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿๅข—ๅŠ ใ‚’ใใŸใ™ใ€‚" - @jahasNotificationNumber7
dcterms:identifier2200535NANDO:2200898
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_063_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label - "Fructose-1,6-bisphosphatase deficiency" - @en
rdfs:label - "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2239 + rdfs:label + "ใˆใƒผใงใƒใƒผใˆใƒผใ‚ใƒผใ‚‹1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00114http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8285
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_063/https://www.shouman.jp/disease/details/11_30_073/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2200893
+ skos:altLabel + "AGS6" + @en
+ skos:altLabel + "Aicardi-Goutiรจres syndrome6" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009251http://purl.obolibrary.org/obo/MONDO_0014007
skos:prefLabel - "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "ADAR1ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200536 +
http://nanbyodata.jp/ontology/NANDO_2200899 (rdf:type owl:Class @@ -128553,77 +186917,91 @@

hasNotificationNumber72hasNotificationNumber1
dcterms:description - "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผ๏ผˆPEPCK๏ผ‰ใฏใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใธใจๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขPEPCK ใจ็ดฐ่ƒž่ณชPEPCKใฎ2ใคใฎใ‚ขใ‚คใ‚ฝใ‚ถใ‚คใƒ ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚PEPCKๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ไนณ้…ธใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใฎ็ณ–ๆ–ฐ็”Ÿ็ณปใซใŠใ‘ใ‚‹ๅˆฉ็”จใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ‚’ๆฅใ—ใ€ๅคš่‡“ๅ™จใฎ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitisใ€€SSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใธใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ไบบใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡(progressive multifocal leukoencephalopathy PML)ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200536NANDO:2200899
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_064_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_31_074_01.pdf
rdfs:label - "Phosphoenolpyruvate carboxykinase deficiency" + "Subacute sclerosing panencephalitis" @en
rdfs:label - "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2849http://nanbyodata.jp/ontology/NANDO_1200195
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_064/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_31_074/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100245
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009866 + skos:altLabel + "SSPE" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017320http://purl.obolibrary.org/obo/MONDO_0009835
skos:prefLabel - "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200537 +
http://nanbyodata.jp/ontology/NANDO_2200900 (rdf:type owl:Class @@ -128631,79 +187009,93 @@

hasNotificationNumber62hasNotificationNumber80
dcterms:description - "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0ๅž‹๏ผ‰ใฏใ€UDP-ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’ๅŸบ่ณชใจใ—ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1,4็ตๅˆใซใ‚ฐใƒซใ‚ณใƒผใ‚นๅˆ†ๅญใ‚’ไป˜ๅŠ ใ—ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้Ž–ใ‚’ไผธ้•ทใ™ใ‚‹้…ต็ด ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€็ต„็น”ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒๆฌ ๆใ‚‚ใ—ใใฏ่‘—ใ—ใไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0aๅž‹๏ผ‰ใจ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0bๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚" + "Rasmussen๏ผˆใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผ‰็—‡ๅ€™็พคใฏใ€1958ๅนดใซRasmussenใ‚‰ใŒๆ…ขๆ€ง้™ๅฑ€ๆ€ง่„ณ็‚Žใฎ็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹้›ฃๆฒปๆ€ง็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“ใฎ2็—‡ไพ‹ใ‚’ๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ“ใจใซๅง‹ใพใ‚Šใ€ใใฎๅพŒใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“๏ผˆepilepsia partialis continua: EPC๏ผ‰ใ‚’ๅซใ‚€ไธ€ๅดๆ€งใฎ็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“็™บไฝœใ€็‰‡้บป็—บใชใฉใฎ้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช้šœๅฎณใ€้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช่Ž็ธฎใ€ๆ…ขๆ€ง่„ณ็‚Žๅƒใชใฉใ‚’่ชใ‚ใ‚‹็—‡ไพ‹็พคใจใ—ใฆ็ขบ็ซ‹ใ—ใŸใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃ็›Ÿใซใ‚ˆใ‚‹ใ€1989ๅนดๅˆ†้กžใงใฏใ€Œๅฐๅ…ใฎๆ…ขๆ€ง้€ฒ่กŒๆ€งๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ€ใจใ•ใ‚Œใฆใ„ใŸใŒใ€2010ๅนดๆ–ฐๅˆ†้กžๆกˆใงใฏใ€ŒRasmussen็—‡ๅ€™็พคใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200537NANDO:2200900
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_065_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_32_075_01.pdf
rdfs:label - "Glycogen synthase deficiency" + "Rasmussen's Encephalitis" @en
rdfs:label - "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2404http://nanbyodata.jp/ontology/NANDO_1200598
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_065/https://www.shouman.jp/disease/details/11_32_075/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100246
skos:altLabel - "็ณ–ๅŽŸ็—…0ๅž‹" + "Rasmussen Encephalitis" + @en
+ skos:altLabel + "Rasmussen่„ณ็‚Ž" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009414http://purl.obolibrary.org/obo/MONDO_0016019
skos:prefLabel - "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" @ja
- - + - - + + - + - + + "ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200538 +
http://nanbyodata.jp/ontology/NANDO_2200901 (rdf:type owl:Class @@ -128711,77 +187103,88 @@

hasNotificationNumber64hasNotificationNumber18
dcterms:description - "็ณ–ๅŽŸ็—…Iๅž‹ใฏใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธใ‚’ๅŠ ๆฐดๅˆ†่งฃใ—ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’็”Ÿๆˆใ€่ผธ้€ใ™ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆG6Pase๏ผ‰ๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ€Iaๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ–-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใจIbๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ ใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡)ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใ€่…Ž่‡“ใ€่…ธ็ฎกใซๅคš้‡ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ไฝŽ่ก€็ณ–ใจ่‚่…ซๅคงใŒๅ‡บ็พใ™ใ‚‹ใ€‚" + "็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใฏใ€ๆ—ฅๆœฌใง1990ๅนดไปฃๅพŒๅŠใ‹ใ‚‰่ช่ญ˜ใ•ใ‚Œๅง‹ใ‚ใŸๆ–ฐใ—ใ„็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡(AEFSCE)ใ€๏ผˆๅกฉ่ฆ‹, 2000ๅนด๏ผ‰ใ€ใ€Œไธกๅดๅ‰้ ญ่‘‰ใ‚’ไธปใจใ—ใฆ้šœๅฎณใ™ใ‚‹ไนณๅนผๅ…ๆ€ฅๆ€ง่„ณ็—‡(AIEF)ใ€๏ผˆYamanouchiใ‚‰, 2006๏ผ‰ใ€ใ€ŒไบŒ็›ธๆ€งใ‘ใ„ใ‚Œใ‚“ใจ้…็™บๆ€งๆ‹กๆ•ฃไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใ€๏ผˆTakanashiใ‚‰, 2006๏ผ‰ใชใฉ่ค‡ๆ•ฐใฎ็•ฐใชใ‚‹็—…ๅใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€2015ๅนดใซใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใ€ใจใ—ใฆๆŒ‡ๅฎš้›ฃ็—…ใซ่ชๅฎšใ•ใ‚ŒใŸใ€‚็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซใ€็—™ๆ”ฃใจ่„ณใฎๅ‚ทๅฎณใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ€ๅฐๅ…ใฎๆ€ฅๆ€ง่„ณ็—‡ใฎใ†ใกๆ—ฅๆœฌใงใฏๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅž‹ใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸ๏ผˆ็™บ็—‡๏ฝž็—™ๆ”ฃๅๅพฉๆœŸ๏ผ‰ใ‹ใ‚‰ไบœๆ€ฅๆ€งๆœŸ๏ผˆๅ›žๅพฉๆœŸ๏ผ‰ใซใ‹ใ‘ใฆใ€ไบŒ็›ธๆ€งใฎ่‡จๅบŠ็ตŒ้Ž๏ผˆๅˆ็™บๆ™‚ใฎๆœ‰็†ฑๆ™‚็—™ๆ”ฃ้‡็ฉใจ็ฌฌ๏ผ“๏ฝž๏ผ–็—…ๆ—ฅใฎ็„ฆ็‚น็™บไฝœ็พค็™บ๏ผ‰ใŠใ‚ˆใณ้ ญ้ƒจMRIๆ‹กๆ•ฃๅผท่ชฟ็”ปๅƒ๏ผˆ็ฌฌ๏ผ“๏ฝž๏ผ™็—…ๆ—ฅใฎๅคง่„ณ็šฎ่ณชไธ‹็™ฝ่ณชใฎๆ‹กๆ•ฃไฝŽไธ‹๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใซๅ…ฅใ‚‹ใจๅคšใใฎๆ‚ฃ่€…ใซใฆใ‚“ใ‹ใ‚“ใ€็Ÿฅ็š„้šœๅฎณใชใฉ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใŒๆฎ‹ใ‚Šใ€้‡็—‡ๆ‚ฃ่€…ใงใฏ็”Ÿๆถฏใซใ‚ใŸใ‚Š็ถšใใ€‚็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใฏๅฐๅ…ใฎๅพŒๅคฉ็š„่„ณ้šœๅฎณใฎไธป่ฆใชๅŽŸๅ› ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200538NANDO:2200901
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_066_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_33_076_01.pdf
rdfs:label - "Glycogen storage disease type I" + "Acute encephalopathy with biphasic seizures and late reduced diffusion" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ… ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2274 + rdfs:label + "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_066/https://www.shouman.jp/disease/details/11_33_076/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100247
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002413 + skos:altLabel + "AESD" + @en
+ skos:altLabel + "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009287http://purl.obolibrary.org/obo/MONDO_0018198
skos:prefLabel - "็ณ–ๅŽŸ็—…โ… ๅž‹" + "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" @ja
- - + - - + + - + - + + "ใ˜ใ“ใ‚ใ‚“ใˆใใ‹ใ„ใ–ใ„ใ›ใ„ใฎใ†ใˆใ‚“ใƒปใฎใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200539 +
http://nanbyodata.jp/ontology/NANDO_2200902 (rdf:type owl:Class @@ -128789,72 +187192,74 @@

hasNotificationNumber65hasNotificationNumber19
dcterms:description - "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆCori็—…๏ผ‰ใฏใ€ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ (4-ฮฑ-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ) ๆดปๆ€งใจใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆใ‚ขใƒŸใƒญ-ฮฑ-1,6-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ใฎๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้™็•Œใƒ‡ใ‚ญใ‚นใƒˆใƒชใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚ๆฌ ๆๆดปๆ€งใฎ็จฎ้กžใจ็ฝนๆ‚ฃ่‡“ๅ™จใซใ‚ˆใ‚Šโ‘ IIIaๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰โ‘กIIIbๅž‹๏ผˆ่‚ๅž‹๏ผ‰โ‘ขIIIdๅž‹ใ€€๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + "ๆ€ฅๆ€งใ‹ไบœๆ€ฅๆ€ง็™บ็—‡(้€šๅธธ3ใ‹ๆœˆไปฅๅ†…)ใฎ่จ˜้Š˜ๅŠ›้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ€ๅ‚พ็œ ใ€ไบบๆ ผๅค‰ๅŒ–ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๆ„่ญ˜้šœๅฎณ็ญ‰ใ‚’ๅ‘ˆใ—ใ€็—‡็Šถใฏๅค‰ๅ‹•ใ™ใ‚‹ใ€‚ๆ˜็กใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‚Ž็—‡ใŒ้ทๅปถใ—ใ€ๆ…ขๆ€งใซใฆใ‚“ใ‹ใ‚“็™บไฝœใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็ตŒ้Žไธญ็™บ็†ฑ็ญ‰ใฎๆ„ŸๆŸ“ๅพดๅ€™ใ‚’ไผดใ‚ใชใ„ๅ ดๅˆใ€่‡ชๅทฑๅ…็–ซๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ใ‚’็–‘ใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่‡ชๅพ‹็ฅž็ตŒ็—‡็Šถ(ๅพช็’ฐๅ™จ็—‡็Šถใ€ๅ‘ผๅธๅ™จ็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€็ซ‹ๆฏ›ใ€ๆ„Ÿ่ฆš็—‡็Šถ็ญ‰)ใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ๅฐ่„ณ็—‡็Šถใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸๆฒป็™‚ใŒๅฅๅŠŸใ—ไบˆๅพŒ่‰ฏๅฅฝใช็พคใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€งๆœŸใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใ‚‚่ช็ŸฅๆฉŸ่ƒฝใ€้‹ๅ‹•ๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’ๆฎ‹ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใจ่–ฌๅ‰คๆŠตๆŠ—ๆ€งใซใ‚ใ‚‹ใ„ใฏ้•ทๆœŸใซ็ตŒ้Žใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200539NANDO:2200902
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_067_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_34_077_01.pdf
rdfs:label - "Glycogen storage disease type III" + "Autoimmune encephalitis" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ขๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280 + rdfs:label + "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_067/https://www.shouman.jp/disease/details/11_34_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100248
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291http://purl.obolibrary.org/obo/MONDO_0020640
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ขๅž‹" + "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200540 +
http://nanbyodata.jp/ontology/NANDO_2200903 (rdf:type owl:Class @@ -128862,72 +187267,86 @@

hasNotificationNumber66hasNotificationNumber63
dcterms:description - "็ณ–ๅŽŸ็—…IVๅž‹ใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆ†ๆž้Ž–้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซๅˆ†ๆž้Ž–ใฎๅฐ‘ใชใ„ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒณๆง˜ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚่‚่„พ่…ซใ€็ญ‹ๅŠ›ไฝŽไธ‹ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚่‚่‡“ใ‚„็ญ‹ใฎ็ต„็น”็—…็†ใงใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใซ่‡ณใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‡จๅบŠ็—…ๅž‹ใซใฏโ‘ ่‚ๅž‹๏ผˆ้‡็—‡่‚็กฌๅค‰ๅž‹๏ผ‰โ‘ก้ž้€ฒ่กŒๆ€ง่‚ๅž‹ใ€€โ‘ข่‡ดๆญปๆ–ฐ็”Ÿๅ…็ฅž็ตŒใƒป็ญ‹ๅž‹ใ€€โ‘ฃๅนผๅ…็ญ‹ใƒป่‚ๅž‹ใ€€โ‘คๆˆไบบๅž‹๏ผˆใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…๏ผ‰ใŒใ‚ใ‚‹ใ€‚" + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž acute encephalitis with refractory, repetitive partial seizures (AERRPS) ใฏๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ้ƒจๅˆ†็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่„ณ็‚Žใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑ๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Šใ‘ใ„ใ‚Œใ‚“ใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใŸใ‚ใ€ๅŒปๅญฆ็š„ใฎใฟใชใ‚‰ใš็คพไผš็š„่ฆ‹ๅœฐใ‹ใ‚‰ใ‚‚้‡่ฆ–ใ™ในใ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200540NANDO:2200903
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_068_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_35_078_01.pdf
rdfs:label - "Glycogen storage disease type IV" + "acute encephalitis with refractory, repetitive partial seizures" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ฃๅž‹" + "ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2281http://nanbyodata.jp/ontology/NANDO_1200600
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_068/https://www.shouman.jp/disease/details/11_35_078/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100249
+ skos:altLabel + "AERRPS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009292http://purl.obolibrary.org/obo/MONDO_0015584
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ฃๅž‹" + "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200541 +
http://nanbyodata.jp/ontology/NANDO_2200904 (rdf:type owl:Class @@ -128935,72 +187354,86 @@

hasNotificationNumber67hasNotificationNumber59
dcterms:description - "็ณ–ๅŽŸ็—…Vๅž‹๏ผˆMcArdle็—…๏ผ‰ใฏ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚" + "ๅคš็™บๆ€ง็กฌๅŒ–็—‡multiple sclerosis๏ผˆ๏ผญ๏ผณ๏ผ‰ใฏไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ—ใ‹ใ—MRIใ‚’ๆ’ฎๅƒใ™ใ‚‹ใจใ€ๅฎŸ้š›ใซใฏ็—‡็Šถใ‚’ๅ‡บใ—ใŸ็—…ๅทฃใฎไฝ•ๅ€ใ‚‚ใฎๆ•ฐใฎ็‚Ž็—‡ๆ€ง่„ฑ้ซ„็—…ๅทฃใŒไธญๆžข็ฅž็ตŒ็ต„็น”ใซๅ‡บ็พใ—ใฆใ„ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎ็‚นใ‚’่ธใพใˆใฆๆ”น่จ‚ใ•ใ‚ŒใŸ2010ๅนด็‰ˆMcDonald่จบๆ–ญๅŸบๆบ–ใงใฏใ€MRIๆ‰€่ฆ‹ใŒ้‡่ฆ–ใ•ใ‚Œใ€ใ•ใ‚‰ใซ้€ ๅฝฑMRIใ‚’็”จใ„ใ‚‹ใ“ใจใง๏ผ‘ๅ›žใฎๆคœๆŸปใงใ‚‚่จบๆ–ญใŒๅฏ่ƒฝใชใปใฉใซ็ฐกไพฟใงๆœ‰็”จใชใ‚‚ใฎใจใชใฃใฆใ„ใ‚‹ใ€‚ใŸใ ใ—ใ€ๆœฌ่จบๆ–ญๅŸบๆบ–ใฏใ€่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใปใผ็ขบๅฎŸใช็—‡ไพ‹ใซใคใ„ใฆใ€ใชใ‚‹ในใๆ—ฉๆœŸใซMSใจใ—ใฆใฎ็ขบๅฎš่จบๆ–ญใ‚’่กŒใชใ†ใŸใ‚ใซไฝœๆˆใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใŸใ‚ใ€ๅๅˆ†ใซไป–็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ไฝœๆฅญใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ“ใจใฏใ€ๅพ“ๆฅใจๅค‰ใ‚ใ‚ŠใŒใชใ„ใ€‚ใจใ“ใ‚ใงใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฏใ€ๅพ“ๆฅใ€่ฆ–็ฅž็ตŒ่„Š้ซ„ๅž‹MS๏ผˆopticospinal MS๏ผšOSMS๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ใใฎไธญใซใฏ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆneuromyelitis optica๏ผšNMO๏ผ‰็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆฌง็ฑณไบบใซๅคšใใ€่ฆ–็ฅž็ตŒใ‚„่„Š้ซ„ใฎใฟใชใ‚‰ใšๅคง่„ณใ‚„ๅฐ่„ณใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹MSใฏ้€šๅธธๅž‹MS๏ผˆconventional MS๏ผšCMS๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200541NANDO:2200904
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_069_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf
rdfs:label - "Glycogen storage disease type V" + "multiple sclerosis" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…คๅž‹" + "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2282http://nanbyodata.jp/ontology/NANDO_1200023
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_069/https://www.shouman.jp/disease/details/11_36_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100250
+ skos:altLabel + "MS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009293http://purl.obolibrary.org/obo/MONDO_0005301
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…คๅž‹" + "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200542 +
http://nanbyodata.jp/ontology/NANDO_2200905 (rdf:type owl:Class @@ -129008,72 +187441,101 @@

hasNotificationNumber68hasNotificationNumber78
dcterms:description - "็ณ–ๅŽŸ็—…VIๅž‹ใฏ่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚็ต„็น”ใงใฎๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใŒ้šœๅฎณใ•ใ‚Œใ€่‚่…ซๅคงใ‚„ไฝŽ่ก€็ณ–ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ๅ†็™บๆ€งใพใŸใฏๆ…ขๆ€ง้€ฒ่กŒๆ€งใซๆœซๆขข็ฅž็ตŒใฎ่„ฑ้ซ„ใ‚’็”Ÿใ˜ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆ„Ÿ่ฆš้šœๅฎณใ‚’็คบใ™่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200542NANDO:2200905
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_070_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_37_080_01.pdf
rdfs:label - "Glycogen storage disease type VI" + "Chronic inflammatory demyelinating polyneuropathy" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ฅๅž‹" + "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2283http://nanbyodata.jp/ontology/NANDO_1200030
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_070/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=679
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_37_080/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100251
+ skos:altLabel + "CIDP" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009294http://purl.obolibrary.org/obo/MONDO_0002335
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006702
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007691
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ฅๅž‹" + "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200543 +
http://nanbyodata.jp/ontology/NANDO_2200906 (rdf:type owl:Class @@ -129081,72 +187543,91 @@

hasNotificationNumber69hasNotificationNumber20
dcterms:description - "็ณ–ๅŽŸ็—…VIIๅž‹๏ผˆTarui็—…๏ผ‰ใฏ็ญ‹ใƒ›ใ‚นใƒ›ใƒ•ใƒซใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€1965ๅนดใซๅž‚ไบ•ใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๆบถ่ก€ใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚" + "้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMyasthenia gravis: MG๏ผ‰ใฏ็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎไฟกๅทไผ้”ใซ้–ขใ‚ใ‚‹่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใฃใฆ๏ผŒ็ฅž็ตŒ็ญ‹ใฎๅˆบๆฟ€ไผ้”ใŒ้šœๅฎณใ•ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽไธปใชๆจ™็š„ๆŠ—ๅŽŸใฏใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAcetylcholine receptor: AChR๏ผ‰ใงใ‚ใ‚‹ใŒ๏ผŒ็ญ‹็‰น็•ฐ็š„ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผŽ่‡จๅบŠ็—‡็Šถใฏ๏ผŒ้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹(ๆ˜“็–ฒๅŠดๆ€ง)๏ผŒๅค•ๆ–นใซ็—‡็ŠถใŒๆ†Žๆ‚ชใ™ใ‚‹(ๆ—ฅๅ†…ๅค‰ๅ‹•)ใ‚’็‰นๅพดใจใ™ใ‚‹๏ผŽ" @ja
dcterms:identifier2200543NANDO:2200906
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_071_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_38_081_01.pdf
rdfs:label - "Glycogen storage disease type VII" + "myasthenia gravis" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…ฆๅž‹" + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้‡็—‡็ญ‹็„กๅŠ›็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2284http://nanbyodata.jp/ontology/NANDO_1200020
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_071/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2675
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_38_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100252
+ skos:altLabel + "MG" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009295http://purl.obolibrary.org/obo/MONDO_0009688
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…ฆๅž‹" + "้‡็—‡็ญ‹็„กๅŠ›็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200544 +
http://nanbyodata.jp/ontology/NANDO_2200907 (rdf:type owl:Class @@ -129154,67 +187635,84 @@

hasNotificationNumber70hasNotificationNumber28
dcterms:description - "็ณ–ๅŽŸ็—…IXๅž‹ใฏๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚’b๏ผˆ้žๆดปๆ€งๅž‹๏ผ‰ใ‹ใ‚‰a(ๆดปๆ€งๅž‹)ใซๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใ€ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚ญใƒŠใƒผใ‚ผใฎๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’็”Ÿใ˜ใ‚‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใจ็™บ็พ่‡“ๅ™จใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ๅฐ‘ใชใใจใ‚‚๏ผ”ใคใฎ็—…ๅž‹ใŒ็Ÿฅใ‚‰ใ‚Œใ€‚X้€ฃ้Ž–ๆ€ง่‚ๅž‹ใฎIXaๅž‹๏ผˆๅˆฅๅX้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…ใ€X-linked liver glycogenosis;ใ€€XLG๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚" + "ไนณ็ณ–ไธ่€็—‡ใจใฏใ€ใƒŸใƒซใ‚ฏใซๅซใพใ‚Œใ‚‹็ณ–่ณชใงใ‚ใ‚‹ไนณ็ณ–ใ‚’ใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ™ใ‚‹ไนณ็ณ–ๅˆ†่งฃ้…ต็ด ๏ผˆใƒฉใ‚ฏใ‚ฟใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€ไนณ็ณ–ใ‚’ๆถˆๅŒ–ๅธๅŽใงใใšใ€่‘—ใ—ใ„ไธ‹็—ขใ‚„ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฎๅŽŸๅ› ใซใฏใ€ๅ…ˆๅคฉๆ€งใฎ้…ต็ด ๆฌ ๆใจไบŒๆฌกๆ€งใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ใŒใ‚ใ‚‹ใ€‚ใŸใ ใ—ใ€ๅ“บไนณ้กžใงใฏ็”ŸๅพŒไธ€ๅฎšๆœŸ้–“ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งใฏ้žๅธธใซ้ซ˜ใใ€ๆŽˆไนณๆœŸใ‚’้ŽใŽใ‚‹ใจๆดปๆ€งใŒ็”Ÿ็†็š„ใซไฝŽไธ‹ใ™ใ‚‹ใ€‚ใพใŸใ€ๆ„ŸๆŸ“ๆ€ง่…ธ็‚Žใชใฉใซใ‚ˆใ‚‹ไบŒๆฌก็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฏๅŽŸๅ‰‡ใจใ—ใฆ็”Ÿ็†็š„ๆดปๆ€งใƒฌใƒ™ใƒซใซๅ›žๅพฉใ™ใ‚‹ใŸใ‚ใ€ใ“ใ“ใง่ฟฐในใ‚‹ไนณ็ณ–ไธ่€็—‡ใฏๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใซๅŸบใฅใ็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚" @ja
dcterms:identifier2200544NANDO:2200907
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_072_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_001_01.pdf
rdfs:label - "Glycogen storage disease type IX" + "lactose intolerance" @en
rdfs:label - "็ณ–ๅŽŸ็—…โ…จๅž‹" + "ใซใ‚…ใ†ใจใ†ใตใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณ็ณ–ไธ่€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_072/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2102
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00116
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100254
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018251http://purl.obolibrary.org/obo/MONDO_0009116
skos:prefLabel - "็ณ–ๅŽŸ็—…โ…จๅž‹" + "ไนณ็ณ–ไธ่€็—‡" @ja
- - + - - + + - + - + + "ใ—ใ‚‡ใจใ†ใ„ใใฐใใŒใจใ†ใถใ‚“ใ‹ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + "CSID" + @en - +
http://nanbyodata.jp/ontology/nando#2200545 +
http://nanbyodata.jp/ontology/NANDO_2200908 (rdf:type owl:Class @@ -129222,84 +187720,86 @@

hasNotificationNumber63hasNotificationNumber25
dcterms:description - "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ (GLUT1) ๆฌ ๆ็—‡ใฏSLC2A1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š่ก€ๆถฒ่„ณ้–ข้–€ใ‹ใ‚‰่„ณๅ†…ใธใฎใ‚ฐใƒซใ‚ณใƒผใ‚นใฎๅ–ใ‚Š่พผใฟใŒ้šœๅฎณใ•ใ‚Œใ€ไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟใ€ไธ้šๆ„้‹ๅ‹•ใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้ซ„ๆถฒ็ณ–ใฎๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚" + "่”—็ณ–ใƒปใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡๏ผˆCSID๏ผ‰ใฏใ€ไบŒ็ณ–้กžใงใ‚ใ‚‹่”—็ณ–ใจ้บฆ่Šฝ็ณ–ใ‚’่…ธใงๅˆ†่งฃใ™ใ‚‹้…ต็ด ใฎๅƒใใŒๆฌ ๆใ—ใŸใ‚Šใ€่‘—ใ—ใไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€่”—็ณ–ใ€้บฆ่Šฝ็ณ–ใ€ใŠใ‚ˆใณๆพฑ็ฒ‰ใ‚’ๅฐ่…ธใงๅˆ†่งฃใ—ใฆๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใšใ€็ ‚็ณ–ใ‚„ๆพฑ็ฒ‰ใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจๆฟ€ใ—ใ„ไธ‹็—ขใจ่…น้ƒจ่†จๆบ€ใ‚’ใใŸใ™ๅ…ˆๅคฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200545NANDO:2200908
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_002_01.pdf
rdfs:label - "Glucose transporter 1 deficiency" + "congenital sucrase-isomaltase deficiency" @en
rdfs:label - "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4492 + rdfs:label + "ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00836http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2100
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_073/https://www.shouman.jp/disease/details/12_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100254
skos:altLabel - "GLUT1ๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011724http://purl.obolibrary.org/obo/MONDO_0009114
skos:prefLabel - "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡" + "ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "glucose-galactose malabsorption" + @en + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚‹ใ“ใƒผใ™ใƒปใŒใ‚‰ใใจใƒผใ™ใใ‚…ใ†ใ—ใ‚…ใ†ใตใ‚Šใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200546 +
http://nanbyodata.jp/ontology/NANDO_2200909 (rdf:type owl:Class @@ -129307,62 +187807,86 @@

hasNotificationNumber73hasNotificationNumber26
dcterms:description - "็ณ–่ณชใฏ้ฃŸๅ“ใจใ—ใฆๆ‘‚ๅ–ใ•ใ‚Œใ‚‹ใจใ€ๅธๅŽใ€ๅˆ†่งฃใŒ่กŒใ‚ใ‚Œใ€ๅ˜็ณ–้กžใจใชใฃใฆไฝ“ใฎใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใฆไฝฟใ‚ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซๅ˜็ณ–้กžใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใซๅˆๆˆใ•ใ‚Œใ€ไฝ“ๅ†…ใซ่ฒฏ็•™ใ•ใ‚Œใ‚‹ใ€‚็ฉบ่…นๆ™‚ใซใฏใใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ๅˆ†่งฃใ—ใฆใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใ€็ณ–ใฎๆ–ฐ็”Ÿใ‚‚่กŒใฃใฆใ„ใ‚‹ใ€‚็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใ‚Œใ‚‰ใฎ้Ž็จ‹ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใฎไฝŽ่ก€็ณ–ใ‚„้ซ˜ไนณ้…ธ่ก€็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹59ใ€œ73ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ณ–ไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธๅ…จ็—‡ใฏใ€ๅฐ่…ธไธŠ็šฎใ‹ใ‚‰ใƒ–ใƒ‰ใ‚ฆ็ณ–ใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใŠใ‚ˆใณใใ‚Œใ‚‰ใงๆง‹ๆˆใ•ใ‚Œใ‚‹ๅˆ†ๅญใ‚’ๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ใซใ€ๅ‡บ็”ŸๅพŒใฎๅ“บไนณ้–‹ๅง‹ใจใจใ‚‚ใซๆฟ€ใ—ใ„ไธ‹็—ขใŒใฏใ˜ใพใ‚Šใ€ๆ•ฐๆ—ฅใชใ„ใ—ๆ•ฐ้€ฑใฎใ†ใกใซ้‡็ฏคใช่„ฑๆฐดใ€ไฝŽ่ก€็ณ–ใ‚„ใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200546NANDO:2200909
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_05_074_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_003_01.pdf
rdfs:label - "59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorders of carbohydrate metabolism" - @en
+ rdfs:label + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_074/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4496
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100164http://nanbyodata.jp/ontology/NANDO_2100254
+ skos:altLabel + "GGM" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011731
skos:prefLabel - "59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + "ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200547 +
http://nanbyodata.jp/ontology/NANDO_2200910 (rdf:type owl:Class @@ -129370,67 +187894,84 @@

hasNotificationNumber130hasNotificationNumber24
dcterms:description - "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-iduronidase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ๆœฌ็—‡ใฏใ€1969ๅนดHadornใ‚‰ใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใฏๅไบŒๆŒ‡่…ธใ€็ฉบ่…ธ็ฒ˜่†œใซๅญ˜ๅœจใ—ใ€ใƒˆใƒชใƒ—ใ‚ทใƒŽใ‚ฒใƒณใ‚’ๆดปๆ€งๅŒ–ใ—ใฆใƒˆใƒชใƒ—ใ‚ทใƒณใซใ™ใ‚‹ๅƒใใŒใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใซใŠใ„ใฆใฏใ€ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่›‹็™ฝ่ณชๅˆ†่งฃๆดปๆ€งใฎๅฎŒๅ…จใชๆฌ ๆใ‚’ๆฅใ™ใ€‚" @ja
dcterms:identifier2200547NANDO:2200910
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_075_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_004_01.pdf
rdfs:label - "Mucopolysaccharidosis" + "enterokinase deficiency" @en
rdfs:label - "ใƒ ใ‚ณๅคš็ณ–็—‡โ… ๅž‹" + "ใˆใ‚“ใฆใ‚ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_075/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2159
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00988
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100254
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019249http://purl.obolibrary.org/obo/MONDO_0009173
skos:prefLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡โ… ๅž‹" + "ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200548 +
http://nanbyodata.jp/ontology/NANDO_2200911 (rdf:type owl:Class @@ -129438,67 +187979,74 @@

hasNotificationNumber131hasNotificationNumber23
dcterms:description - "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹Iduronate-2-sulfatase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€งใฎใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅˆ†ๆณŒ่ƒฝใฎๆˆ็†Ÿ้…ๅปถใŒๅŽŸๅ› ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซใฏๅคš็ณ–้กžใฎๅธๅŽใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ“ใจใงใ€็™บ่‚ฒ้šœๅฎณใ‚„ใงใ‚“ใทใ‚“้ก†็ฒ’ใ‚’ๆททใ˜ใŸ็™บ้…ตๆ€งใฎไธ‹็—ขใ‚’ใใŸใ™ใ€‚ใƒชใƒ‘ใƒผใ‚ผใ‚„ใƒˆใƒชใƒ—ใ‚ทใƒณใชใฉไป–่†ต้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ‚‚ใฎใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๅฎถๆ—ๅ†…็™บ็”Ÿใ‚’่ชใ‚ใŸ่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ใฎๆˆไบบไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€็จ€ใงใฏใ‚ใ‚‹ใŒๆฐธ็ถš็š„ใช่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200548NANDO:2200911
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_076_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_005_01.pdf
rdfs:label - "Mucopolysaccharidosis" + "amylase deficiency" @en
rdfs:label - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…กๅž‹" + "ใ‚ใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_076/https://www.shouman.jp/disease/details/12_01_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100254
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019249http://purl.obolibrary.org/obo/MONDO_0015169
skos:prefLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…กๅž‹" + "ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200549 +
http://nanbyodata.jp/ontology/NANDO_2200912 (rdf:type owl:Class @@ -129506,67 +188054,79 @@

hasNotificationNumber132hasNotificationNumber30
dcterms:description - "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ ใ‚ณๅคš็ณ–็—‡๏ผฉๅž‹ใ‚„โ…กๅž‹ใจๆฏ”ในใฆ้ชจใฎ้šœๅฎณใŒๅฐ‘ใชใ็Ÿฅ็š„้šœๅฎณใฏ้‡ใ„ใ€‚่ปฝๅบฆใฎ่‚่‡“่…ซๅคงใŒใ‚ใ‚Šใ€่ง’่†œๆททๆฟใฏใชใ„ใ€‚ๅฐฟไธญใซใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธใŒๅ‡บใฆใ„ใ‚‹ใŒใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚" + "ๅ…ˆๅคฉๆ€งใฎใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€1964ๅนดใซSheldonใŒ2ๅฎถ็ณป4็—‡ไพ‹ใซใคใ„ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ€‚ๅ…ˆๅคฉ็š„ใซ่†ตใƒชใƒ‘ใƒผใ‚ผใฎใฟใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€็”ŸๅพŒ้–“ใ‚‚ใชใ่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Š้‡็ฏคใช่„‚่‚ชไพฟใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€ใƒชใƒ‘ใƒผใ‚ผใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใ‚ณใƒชใƒ‘ใƒผใ‚ผใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ไธก้…ต็ด ใ‚’ๅŒๆ™‚ใซๆฌ ๆใ—ใŸ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200549NANDO:2200912
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_077_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_006_01.pdf
rdfs:label - "Mucopolysaccharidosis" + "lipase deficiency" @en
rdfs:label - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ขๅž‹" + "ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_077/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7983
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100254
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019249http://purl.obolibrary.org/obo/MONDO_0013700
skos:prefLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ขๅž‹" + "ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200550 +
http://nanbyodata.jp/ontology/NANDO_2200913 (rdf:type owl:Class @@ -129574,67 +188134,79 @@

hasNotificationNumber133hasNotificationNumber29
dcterms:description - "Morquio ็—‡ๅ€™็พค๏ผˆใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹๏ผ‰ใฏใ€็Ÿญ่ƒดๆ€งไฝŽ่บซ้•ทใ€X่„šใ€ๆ‰‹้–ข็ฏ€ๅผ›็ทฉใ€่ง’่†œๆททๆฟใ€ๅผ่†œ็—‡ใ€ๅฐฟไธญใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผˆKS๏ผ‰ใƒปใ‚ณใƒณใƒ‰ใƒญใ‚คใƒใƒณ็กซ้…ธ๏ผˆCS๏ผ‰ใฎๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏN-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณ-6-็กซ้…ธใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆGALNS๏ผ‰ใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Aๅž‹ใจใ€ฮฒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Bๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€Aๅž‹ใŒๅคงๅŠใ‚’ๅ ใ‚ใ‚‹ใ€‚GALNSใฎๆฌ ๆใซใ‚ˆใ‚ŠKSใจCSใฎๅˆ†่งฃใŒ้˜ปๅฎณใ•ใ‚Œใ€้ชจใ‚„่ง’่†œใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ่“„็ฉใ™ใ‚‹" + "่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžใฎๅพฎ็ตจๆฏ›ใŒ่…ธ็ฎก่…”ๅดใซๆญฃๅธธใซๅฑ€ๅœจใงใใชใ„ใŸใ‚ใซๅคง้‡ใฎๆฐดๆง˜ไธ‹็—ขใ‚’ใใŸใ—ใ€ๆฐดใ€้›ป่งฃ่ณชใ‚„้‡็‚ญ้…ธใฎๅ–ชๅคฑใจๆ „้คŠ็ด ใฎๅธๅŽ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๅ‹ข้บไผๆ€ง็–พๆ‚ฃใ€‚้›ปๅญ้ก•ๅพฎ้ก็š„ใซๅพฎ็ตจๆฏ›ใฎๅฏ†ๅบฆใŒ็–ŽใงไธˆใŒไฝŽใ„ใ“ใจใ‹ใ‚‰ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡๏ผˆcongenital microvillus atrophy๏ผ‰ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸใ€‚" @ja
dcterms:identifier2200550NANDO:2200913
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_078_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_007_01.pdf
rdfs:label - "Mucopolysaccharidosis" + "microvillus inclusion disease" @en
rdfs:label - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฃๅž‹" + "ใณใ˜ใ‚…ใ†ใ‚‚ใ†ใตใ†ใซใ‚…ใ†ใŸใ„ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_078/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2622
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100255
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019249http://purl.obolibrary.org/obo/MONDO_0009635
skos:prefLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฃๅž‹" + "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" @ja
- - + - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200551 +
http://nanbyodata.jp/ontology/NANDO_2200914 (rdf:type owl:Class @@ -129642,67 +188214,74 @@

hasNotificationNumber134hasNotificationNumber27
dcterms:description - "N-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณโ€•4๏ผใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผB๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซ่ตทๅ› ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฏใ€ๆˆ้•ท้šœๅฎณใ€้ชจ้–ข็ฏ€็—‡็Šถใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€่ง’่†œๆททๆฟใชใฉใ‚’ๅ‘ˆใ—๏ผŒใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹๏ผˆใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ใจ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€็Ÿฅ็š„้šœๅฎณใฏไผดใ‚ใชใ„ใ€‚่บซไฝ“ๆ‰€่ฆ‹ใ€็™บ็—‡ๆ™‚ๆœŸใ€็—‡็Šถใฎ้€ฒ่กŒ้€Ÿๅบฆใซใ‚ˆใ‚Š้‡็—‡ๅž‹ใƒปไธญ้–“ๅž‹ใƒป่ปฝ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€็—…ๅž‹ใฎๅขƒ็•Œใฏไธ้ฎฎๆ˜Žใงๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’็คบใ™ใ€‚" + "1961ๅนดใซWaldmannใ‚‰ใซใ‚ˆใ‚Šๆๅ”ฑใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚่…ธ็ฎกๅฃๅ†…ใฎใƒชใƒณใƒ‘็ฎกๅ†…ๅœงใŒไบข้€ฒใ—ใ€ใƒชใƒณใƒ‘็ฎกใฎๆ‹กๅผตใ‚„็ ด็ถปใ‚’ใใŸใ™ใ€‚ใใฎ็ตๆžœใ€ใƒชใƒณใƒ‘ๆถฒใจใจใ‚‚ใซ่›‹็™ฝๆˆๅˆ†ใŒ่…ธ็ฎกๅ†…ใธๆผๅ‡บใ—ไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ใใŸใ™ใ€‚" @ja
dcterms:identifier2200551NANDO:2200914
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_079_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_01_008_01.pdf
rdfs:label - "Mucopolysaccharidosis" + "Intestinal Lymphangiectasia" @en
rdfs:label - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฅๅž‹" + "ใกใ‚‡ใ†ใ‚Šใ‚“ใฑใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_079/https://www.shouman.jp/disease/details/12_01_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100256
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019249http://purl.obolibrary.org/obo/MONDO_0018178
skos:prefLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฅๅž‹" + "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200552 +
http://nanbyodata.jp/ontology/NANDO_2200915 (rdf:type owl:Class @@ -129710,67 +188289,86 @@

hasNotificationNumber135hasNotificationNumber39
dcterms:description - "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ใฏใ€ไฝŽ่บซ้•ทใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่ƒŽๅ…ๆฐด่…ซใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’็คบใ™ใ€‚้ ปๅบฆใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅญ˜ๅœจใ™ใ‚‹ฮฒ-ใ‚ฐใƒซใ‚ฏใƒญใƒ‹ใƒ€ใƒผใ‚ผ้…ต็ด ๆดปๆ€งใŒๆฌ ๆใ™ใ‚‹ใŸใ‚ใ€ใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธใ‚’้™คใใ™ในใฆใฎใƒ ใ‚ณๅคš็ณ–ใฎๅˆ†่งฃใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น(FAP)ใฏใ€APC้บไผๅญใฎ่ƒš็ดฐ่ƒžๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใ€ๅคง่…ธใฎๅคš็™บๆ€ง่…บ่…ซใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚‹ใจใปใผ100%ใฎ็—‡ไพ‹ใซๅคง่…ธ็™ŒใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ็™Œไปฅๅค–ใซใ‚‚ใ€ๆถˆๅŒ–็ฎกใ‚ใ‚‹ใ„ใฏใใฎไป–ใฎ่‡“ๅ™จใซๆง˜ใ€…ใช่…ซ็˜ๆ€งใŠใ‚ˆใณ้ž่…ซ็˜ๆ€งใฎ้šไผด็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ่…บ่…ซๆ€งใƒใ‚ทใƒใƒผใ‚ทใ‚นใซ่ปŸ้ƒจ่…ซ็˜ใ€้ชจ่…ซใ€ๆญฏ็‰™็•ฐๅธธใ€ใƒ‡ใ‚นใƒขใ‚คใƒ‰่…ซ็˜ใชใฉใ‚’ไผดใ†Gardner็—‡ๅ€™็พคใฏAPC้บไผๅญใฎ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€FAPใจๅŒไธ€็–พๆ‚ฃใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚APC้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ๅคง่…ธ็ทš่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใซ่„ณ่…ซ็˜๏ผˆไธปใซๅฐ่„ณใฎ้ซ„่Šฝ่…ซ๏ผ‰ใ‚’ไผดใ†Turcot็—‡ๅ€™็พค(type2)ใ‚‚FAPใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" @ja
dcterms:identifier2200552NANDO:2200915
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_080_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_02_009_01.pdf
rdfs:label - "Mucopolysaccharidosis" + "familial adenomatous polyposis" @en
rdfs:label - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฆๅž‹" + "ใ‹ใžใใ›ใ„ใ›ใ‚“ใ—ใ‚…ใ›ใ„ใฝใ‚Šใฝใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_080/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01025
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100257
+ skos:altLabel + "FAP" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019249http://purl.obolibrary.org/obo/MONDO_0021055
skos:prefLabel - "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฆๅž‹" + "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใฝใ‚Šใฝใƒผใ—ใ™" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200553 +
http://nanbyodata.jp/ontology/NANDO_2200916 (rdf:type owl:Class @@ -129778,72 +188376,74 @@

hasNotificationNumber126hasNotificationNumber40
dcterms:description - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-ใƒ•ใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆEC3.2.1.51๏ผ‰ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒ•ใ‚ณใƒผใ‚นใ‚’ๅซใ‚€ๅ„็จฎใฎ็ณ–่›‹็™ฝ่ณชใ€็ณ–่„‚่ณชใŒๅ…จ่บซใฎ็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฎไธญใงใ‚‚็‰นใซ้ ปๅบฆใŒไฝŽใใ€ๆ‚ฃ่€…ใฏๅ…จไธ–็•Œใซๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใŒ็™พๆ•ฐๅไพ‹ใฎๅ ฑๅ‘Šใซใ™ใŽใชใ„ใ€‚่‡จๅบŠ็š„ใซ2็จฎ้กžใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไนณๅนผๅ…ๆœŸใซ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใง็™บ็—‡ใ—้€ฒ่กŒใŒๆ—ฉใใ€ๆฑ—ใฎNaClๆฟƒๅบฆใฎไธŠๆ˜‡ใ‚’็‰นๅพดใจใ™ใ‚‹้‡็—‡ๅž‹ใงใ‚ใ‚‹Iๅž‹ใจใ€1โˆ’2ๆญณใง็™บ็—‡ใ—้€ฒ่กŒใŒ้…ใ่ขซ่ง’่ก€็ฎก่…ซ๏ผˆangiokeratoma corporis diffusum๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹่ปฝ็—‡ใฎIIๅž‹ใงใ‚ใ‚‹ใ€‚" + "ๅ…จๆถˆๅŒ–็ฎกใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใงใ‚ใ‚‹่‹ฅๅนดๆ€งใƒใƒชใƒผใƒ—ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ด„25๏ผ…ใฏๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใƒใƒชใƒผใƒ—ๆ•ฐใฏ5๏ฝž200ๅ€‹็จ‹ๅบฆใงใ‚ใ‚Šใ€็™บ็”Ÿ้ƒจไฝใ€ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…จๆถˆๅŒ–็ฎกๅž‹ใ€่ƒƒ้™ๅฑ€ๅž‹ใ€ๅคง่…ธ้™ๅฑ€ๅž‹ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200553NANDO:2200916
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_081_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_02_010_01.pdf
rdfs:label - "Fucosidosis" + "Juvenile polyposis" @en
rdfs:label - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2242 + rdfs:label + "่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_081/https://www.shouman.jp/disease/details/12_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100257
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009254http://purl.obolibrary.org/obo/MONDO_0017380
skos:prefLabel - "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - - - + "Peutz-Jeghers็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200554 +
http://nanbyodata.jp/ontology/NANDO_2200917 (rdf:type owl:Class @@ -129851,84 +188451,91 @@

hasNotificationNumber129hasNotificationNumber41
dcterms:description - "็ณ–่›‹็™ฝ่ณชใฎ็ณ–้Ž–ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒชใ‚ฝใ‚ฝโˆ’ใƒ ้…ต็ด ใฎไธญใง๏ผŒใ‚ขใƒซใƒ•ใ‚ก็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ก-mannosidase(LAMAN, EC3.2.1.24)๏ผŒใƒ™ใƒผใ‚ฟ็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ข-mannosidase(MANBA, EC3.2.1.25)ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใ‚Œใžใ‚Œใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹็–พๆ‚ฃใ‚’๏ก-mannosidosis(OMIM #248500), ๏ข-mannosidosis(OMIM #248510)ใจๅ‘ผใ‚“ใงใ„ใ‚‹๏ผŽ๏ก-mannosidase้บไผๅญ(MAN2B1)ใฏ19p13.2-q12ใซ๏ผŒ๏ข-mannosidosis้บไผๅญ(MANBA)ใฏ4q21-25ใซใƒžใƒƒใƒ—ใ•ใ‚Œ๏ผŒใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๅคงๅค‰็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅ›ฝๅ†…ๅ ฑๅ‘Šใฏๆฎ†ใฉใชใ„ใ€‚" + "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พคใฏ้ฃŸ้“ใ‚’้™คใๅ…จๆถˆๅŒ–็ฎกใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใจๅฃๅ”‡ใ€ๅฃ่…”ใ€ๆŒ‡ๅฐ–้ƒจใ‚’ไธญๅฟƒใจใ™ใ‚‹็šฎ่†šใ€็ฒ˜่†œใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡่€…ใฎ็ด„50๏ผ…ใฏๅฎถๆ—ๆญดใŒใชใ„ๅญค็™บไพ‹ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใฏ็ฒ˜่†œไธŠ็šฎใฎ้Ž่ชค่…ซ็š„้Žๅฝขๆˆใ€็ฒ˜่†œ็ญ‹ๆฟใ‹ใ‚‰ใฎๅนณๆป‘็ญ‹็ทš็ถญๆŸใฎๆจนๆž็Šถๅข—็”ŸใŒ็‰นๅพดใงใ‚ใ‚Šใ€ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚นใƒใƒชใƒผใƒ—ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200554NANDO:2200917
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_082_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_02_011_01.pdf
rdfs:label - "alpha-Mannosidosis" + "Peutz-Jeghers syndrome" @en
rdfs:label - "ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใฝใ„ใคใƒปใ˜ใ‡ใŒใƒผใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2547http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1252
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_082/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00666
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_02_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100257
skos:altLabel - "beta-Mannosidosis " - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009561
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009562http://purl.obolibrary.org/obo/MONDO_0008280
skos:prefLabel - "ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ‹ใ†ใงใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200555 +
http://nanbyodata.jp/ontology/NANDO_2200918 (rdf:type owl:Class @@ -129936,77 +188543,86 @@

hasNotificationNumber112hasNotificationNumber38
dcterms:description - "๏ผ‘๏ผŽ ๆฆ‚่ฆใƒปๅฎš็พฉใ‚ขใƒซใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ€ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใฎN-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณใŠใ‚ˆใณใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้–“ใฎ็ตๅˆใ‚’ๅˆ‡ๆ–ญใ™ใ‚‹ๅƒใใ‚’ๆŒใคใ€‚ๆœฌ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅฝ“่ฉฒ้ ˜ๅŸŸใŒๅˆ†่งฃใ•ใ‚Œใชใ„ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใŒใƒชใ‚ฝใ‚ฝใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใชใ‚Šใ€ๆ‚ฃ่€…ใฏใ€ๆ˜“ๆ„ŸๆŸ“ใ‚„็ฒพ็ฅž็™บ้”้…ๅปถใ€็ฒ—ใช้ก”่ฒŒใŠใ‚ˆใณ้ชจ็•ฐๅธธใชใฉใฎ็—‡็Šถใ‚’็คบใ™ใ€‚" + "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พคใฏใ€็šฎ่†šใƒป็ฒ˜่†œใ€ๆถˆๅŒ–็ฎกใ€ไนณ่…บใ€็”ฒ็Šถ่…บใ€ไธญๆžข็ฅž็ตŒใ€ๆณŒๅฐฟ็”Ÿๆฎ–ๅ™จใชใฉใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€ง็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅทจ้ ญ็—‡ใ€้Ž่ชค่…ซๆ€งๅคง่…ธใƒใƒชใƒใƒผใ‚ทใ‚นใ€่„‚่‚ช่…ซใŠใ‚ˆใณ้™ฐ่ŒŽไบ€้ ญใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใƒใƒŠใƒคใƒณใƒปใƒฉใ‚คใƒชใƒผใƒปใƒซใƒใƒซใ‚ซใƒ็—‡ๅ€™็พค๏ผˆBannayan-Riley-Ruvalcaba syndrome๏ผŒไปฅไธ‹BRRS๏ผ‰ใฏๅ…ˆๅคฉๆ€งใฎ้‡็—‡ๅž‹ใจใ—ใฆๆ‰ฑใ†ใ€‚" @ja
dcterms:identifier2200555NANDO:2200918
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_083_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_02_012_01.pdf
rdfs:label - "Aspartylglucosaminuria" + "Cowden syndrome" @en
rdfs:label - "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1801 + rdfs:label + "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00145https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01222
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_083/https://www.shouman.jp/disease/details/12_02_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100257
+ skos:altLabel + "Cowden็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008830http://purl.obolibrary.org/obo/MONDO_0016063
skos:prefLabel - "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡" + "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ—ใ‚…ใ†ใใ›ใ„ใŠใ†ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200556 +
http://nanbyodata.jp/ontology/NANDO_2200919 (rdf:type owl:Class @@ -130014,82 +188630,79 @@

hasNotificationNumber118hasNotificationNumber19
dcterms:description - "ใƒชใ‚ฝใ‚ฝใƒผใƒ ๆ€งใƒŽใ‚คใƒฉใƒŸใƒ‹ใƒ€ใƒผใ‚ผ๏ผˆใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ2ใคใฎใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅณใกใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ๆ–‘ใจใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ‚’ไผดใ†็ฌฌ1ๅž‹ใจใ€ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฎไป–ใซใ€้ก”่ฒŒใ‚„้ชจ็•ฐๅธธใฎๅญ˜ๅœจใ‚’็‰นๅพดใจใ™ใ‚‹็ฌฌ2ๅž‹ใงใ‚ใ‚‹ใ€‚" + "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค๏ผˆcyclic vomiting syndrome,CVS๏ผ‰ใฏๆ•ฐๆ—ฅ้–“ใฎๅ˜”ๅ็™บไฝœใ‚’ๅ‘จๆœŸ็š„ใซใใ‚Š่ฟ”ใ™ใŒ,้–“ๆฌ ๆœŸใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจ, ๆ•ฐๅนดใฎ็ตŒ้Žใซใ‚ˆใ‚Š่‡ช็„ถๆฒป็™’ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹.CVSใฏๅ…จใฆใฎไบบ็จฎใง่ฆ‹ใ‚‰ใ‚Œ,้ ปๅบฆใฏ็™ฝไบบใง2%ใจใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹.Liใ‚‰ใฏๅฐๅ…ใฎ็™บ็—‡ๅนด้ฝขใฏไธญๅคฎๅ€คใŒ4.8ๆญณใงๆœ€ๅฐ็™บ็—‡ๅนด้ฝขใฏ็”ŸๅพŒ6ๆ—ฅ,ๆˆไบบใฎ็™บ็—‡ๅนด้ฝขใฎไธญๅคฎๅ€คใฏ35ๆญณใงๆœ€้ซ˜้ฝขใฏ73ๆญณใงใ‚ใ‚Š,ๆ€งๅทฎใฏๅฐๅ…ใง57:43(ๅฅณ:็”ท),ๆˆไบบใงใฏ9:8(ๅฅณ:็”ท)ใจๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹1)." @ja
dcterms:identifier2200556NANDO:2200919
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_084_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_03_013_01.pdf
rdfs:label - "Sialidosis" + "Cyclic Vomiting Syndrome" @en
rdfs:label - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2716 + rdfs:label + "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00142http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6604
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_084/https://www.shouman.jp/disease/details/12_03_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009738http://nanbyodata.jp/ontology/NANDO_2100258
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017734http://purl.obolibrary.org/obo/MONDO_0010778
skos:prefLabel - "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200557 +
http://nanbyodata.jp/ontology/NANDO_2200920 (rdf:type owl:Class @@ -130097,77 +188710,79 @@

hasNotificationNumber114hasNotificationNumber1
dcterms:description - "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งไฟ่ญท่›‹็™ฝ่ณช/ใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆPPCA๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚PPCAใฏใ€ใใ‚Œ่‡ชไฝ“ใŒใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆ้…ธๆ€งใ‚ซใƒซใƒœใ‚ญใ‚ทใƒšใƒ—ใƒใƒ€ใƒผใ‚ผใ€ไธญๆ€งใ‚ปใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผใŠใ‚ˆใณใƒ‡ใ‚ขใƒŸใƒ€ใƒผใ‚ผ๏ผ‰ใจใ—ใฆใฎ้…ต็ด ๆดปๆ€งใ‚’ๆŒใคใ ใ‘ใงใชใใ€็ดฐ่ƒžๅ†…ใซใŠใ„ใฆใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใ‚„ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใจๅ…ฑใซ้ซ˜ๅˆ†ๅญ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใฆใ€ๅ‰่€…ใ‚’ๆดปๆ€งๅŒ–ใ—ใ€ๅพŒ่€…ใ‚’ๅฎ‰ๅฎšๅŒ–ใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆŒใคๅคšๆฉŸ่ƒฝๆ€ง็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ€‚ใ“ใฎPPCAใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Šใ€ไธ€ๆฌก็š„ใชใ‚ซใƒ†ใƒ—ใ‚ทใƒณAๆดปๆ€งใฎไฝŽไธ‹ใจไบŒๆฌก็š„ใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใŠใ‚ˆใณฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใŒ่ตทใ“ใ‚Šใ€ใใฎ็ตๆžœใ€ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’ๆฅใŸใ™็–พๆ‚ฃใŒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นใงใ‚ใ‚‹ใ€‚" + "ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใ—ใฐใ—ใฐใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅคง่…ธใฎๅŽŸๅ› ไธๆ˜Žใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐ็š„็‚Ž็—‡ใงใ€30ๆญณๆœชๆบ€ใฎๆˆไบบใซๅฅฝ็™บใ™ใ‚‹ใŒๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๆˆไบบใซใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆ€งไธ‹็—ขใ‚’ๆฅใŸใ—ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใชใ‚‹ใ€‚ๅฐๅ…ใฏ้€ฒ่กŒใŒๆ—ฉใใ€้‡็ฏคใชๅ…จๅคง่…ธ็‚Žๅž‹ใซ็งป่กŒใ—ใ‚„ใ™ใใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆŠตๆŠ—ๆ€งใŒๅคšใ„ใ€‚่ฟ‘ๅนดๅข—ๅŠ ๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200557NANDO:2200920
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_085_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_04_014_01.pdf
rdfs:label - "Galactosialidosis" + "Ulcerative colitis" @en
rdfs:label - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2723 + rdfs:label + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00276http://nanbyodata.jp/ontology/NANDO_1200449
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_085/https://www.shouman.jp/disease/details/12_04_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100259
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009737http://purl.obolibrary.org/obo/MONDO_0005101
skos:prefLabel - "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200558 +
http://nanbyodata.jp/ontology/NANDO_2200921 (rdf:type owl:Class @@ -130175,67 +188790,86 @@

hasNotificationNumber119hasNotificationNumber2
dcterms:description - "ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€็ณ–่„‚่ณชใฎๆœซ็ซฏฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น็ตๅˆใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ใฏใ˜ใ‚ใจใ—ใฆๅ…จ่บซ่‡“ๅ™จใซGM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใ€ใ‚ชใƒชใ‚ด็ณ–ใ€ใƒ ใ‚ณๅคš็ณ–๏ผˆใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผ‰ใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไธปใจใ™ใ‚‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…จ่บซ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใƒขใƒซใ‚ญใ‚ชB็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡๏ฝž20ไธ‡ไบบใจใ•ใ‚Œใ€็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ3๏ฝž6ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€ๅ…จ่บซๆ€งใ‘ใ„ใ‚Œใ‚“ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€่‚่„พ่…ซใ€ๅ…จ่บซใฎ้ชจ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ1ๆญณๅ‰ๅพŒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ‚„ใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง็Ÿฅ่ƒฝ้šœๅฎณใŒๅฐ‘ใชใ„ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "ๆถˆๅŒ–็ฎกใฎ่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€็ต‚ๆœซๅ›ž่…ธใจๅคง่…ธใฎ็ฝนๆ‚ฃใŒๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€ๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ™ใ‚‹ใ€‚็‚Ž็—‡ใฏๆ€ฅๆ€งใพใŸใฏๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅฏ›่งฃใจๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่…ธ็ฒ˜่†œใ‹ใ‚‰่…ธ็ฎกๅ…จๅฑคใซๆณขๅŠใ™ใ‚‹็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ—ใ€ๆตฎ่…ซใ‚„ๆฝฐ็˜็—…ๅค‰ใŒๆ–‘็ŠถใซใพใŸใฏ็ทš็Šถใซ็™บ็”Ÿใ—ใ€่…ธ็ฎก็‹ญ็ช„ใ‚„็˜ปๅญ”ใชใฉใฎ็‰นๅพด็š„็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚็ฒ˜่†œๅ›บๆœ‰ๅฑคใซTNF-ฮฑใ‚’็”ฃ็”Ÿใ™ใ‚‹็ดฐ่ƒžใŒๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Š็‚Ž็—‡ใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200558NANDO:2200921
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_086_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_04_015_01.pdf
rdfs:label - "GM1-gangliosidosis" + "Crohn's disease" @en
rdfs:label - "GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใใ‚ใƒผใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒญใƒผใƒณ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_086/http://nanbyodata.jp/ontology/NANDO_1200444
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_04_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100259
+ skos:altLabel + "Crohn็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018149http://purl.obolibrary.org/obo/MONDO_0005011
skos:prefLabel - "GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใ‚ฏใƒญใƒผใƒณ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200559 +
http://nanbyodata.jp/ontology/NANDO_2200922 (rdf:type owl:Class @@ -130243,67 +188877,67 @@

hasNotificationNumber120
- dcterms:description - "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใจB ไธกๆ–นใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใ€GM2ๆดปๆ€งๅŒ–่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ไธญๅฟƒใซGM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใŒ1/30ไธ‡ไบบใจใ•ใ‚Œใ€GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใฏใใ‚ใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ6๏ฝž7ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ‚’่ชใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚่‹ฅๅนดๅž‹ใฏ2๏ฝž10ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง20๏ฝž30ๆญณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200559NANDO:2200922
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_087_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_04_016_01.pdf
rdfs:label - "GM2-gangliosidosis" + "Early-onset Inflammatory Bowel Disease" @en
rdfs:label - "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ใใ†ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใกใ‚‡ใ†ใ—ใฃใ‹ใ‚“" + @ja-Hira
+ rdfs:label + "ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_087/https://www.shouman.jp/disease/details/12_04_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100259
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017720http://purl.obolibrary.org/obo/MONDO_0005265
skos:prefLabel - "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + "ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" @ja
- - + - - + + - + - + - - - - + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200560 +
http://nanbyodata.jp/ontology/NANDO_2200923 (rdf:type owl:Class @@ -130311,82 +188945,81 @@

hasNotificationNumber113hasNotificationNumber3
dcterms:description - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณ็™ฝ่ณชใ€ๆœซๆขข็ฅž็ตŒใ€่…Ž่‡“ใชใฉใซใ‚นใƒซใƒ•ใ‚กใƒใƒ‰ใŒ่“„็ฉใ—ใ€ไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚็™บ็—‡้ ปๅบฆใฏ4ไธ‡๏ฝž16ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ2ๆญณใพใงใซ็™บ็—‡ใ—ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๆทฑ้ƒจ่…ฑๅๅฐ„ๆถˆๅคฑใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ4๏ฝž6ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็—™ๆ€ง้บป็—บใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏ10ไปฃๅพŒๅŠไปฅ้™ใซๆƒ…็ท’้šœๅฎณใ€่จ€่ชž้šœๅฎณใ€็—ดๅ‘†ใ€็ฒพ็ฅž็—‡็Šถใชใฉใง็™บ็—‡ใ—ใ€5๏ฝž10ๅนดใฎ็ตŒ้Žใง้€ฒ่กŒใ™ใ‚‹ใ€‚" + "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใฃใฆ่…ธ็ฎกใŒ้šœๅฎณใ•ใ‚Œ๏ผŽ้›ฃๆฒปๆ€งไธ‹็—ข็—‡ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽUnsworthใ‚‰ใฏไปฅไธ‹ใฎ๏ผ”้ …็›ฎใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ—ใŸ๏ผŽ1. ้ฃŸ้คŒ็™‚ๆณ•ใƒปๅฎŒๅ…จ้™่„ˆๆ „้คŠใงๆ”นๅ–„ใ—ใชใ„ๆ…ขๆ€ง้›ฃๆฒปๆ€งไธ‹็—ข็—‡2. ๅไบŒๆŒ‡่…ธใƒปๅฐ่…ธ็”Ÿๆคœใง็ตจๆฏ›่Ž็ธฎ๏ผŒ็ฒ˜่†œๅ›บๆœ‰ๅฑคใธใฎๅ˜ๆ ธ็ดฐ่ƒžใƒปๅฝข่ณช็ดฐ่ƒžใ‚’ไธญๅฟƒใจใ—ใŸ็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹3. ๆญฃๅธธ่…ธ็ฎกใ‚’็”จใ„ใŸๅ…็–ซ็ต„็น”ๅญฆ็š„ๆ–นๆณ•ใง่ก€ๆธ…ไธญใซๆŠ—่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹๏ผŽใŸใ ใ—ๆ—ขใซๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑๆŠ—ๅŽŸ๏ผˆAIE-75, villin๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ้™ฝๆ€ง๏ผŽ4. ๆ˜Žใ‚‰ใ‹ใชๅ…็–ซไธๅ…จ็—‡ใŒใชใ„ใ—ใ‹ใ—ใใฎๅพŒ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฎไธป่ฆใชๅŸบ็คŽ็–พๆ‚ฃใงใ‚ใ‚‹โ€œๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ใ€่…ธ็–พๆ‚ฃใ‚’ไผดใ†ไผดๆ€งๅŠฃๆ€งๅ…็–ซ่ชฟ็ฏ€็•ฐๅธธ(immunedysregulation, polyendocrinopathy, enteropathy, X-linked;IPEX)็—‡ๅ€™็พคโ€ใฎ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใซใ„ใŸใ‚Š๏ผŒใ•ใ‚‰ใซใ“ใ‚ŒใŒๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใซๅˆ†้กžใ•ใ‚ŒใŸใ“ใจใ‹ใ‚‰๏ผŒไธŠ่จ˜้ …็›ฎใฎ1-3ใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ“ใจใŒๅˆ็†็š„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽIPEX็—‡ๅ€™็พคใฏFOXP3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใ‚’ไธป่ฆ็—‡ๅ€™ใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ๏ผ‘ๅž‹็ณ–ๅฐฟ็—…๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใชใฉๅคšๅฝฉใช่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’ๆฅใ™๏ผŽ" @ja
dcterms:identifier2200560NANDO:2200923
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_088_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_04_017_01.pdf
rdfs:label - "Metachromatic leukodystrophy" + "autoimmune enteropathy" @en
rdfs:label - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2577
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00127 + rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_088/https://www.shouman.jp/disease/details/12_04_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100260
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009591 + skos:altLabel + "IPEX็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018868http://purl.obolibrary.org/obo/MONDO_0019787
skos:prefLabel - "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200561 +
http://nanbyodata.jp/ontology/NANDO_2200924 (rdf:type owl:Class @@ -130394,74 +189027,79 @@

hasNotificationNumber123
- dcterms:description - "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ๏ผˆNiemann-Pick๏ผ‰็—…ใฏใ€้…ธๆ€งใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒŠใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹Aๅž‹ใ€Bๅž‹ใจNPC1ใพใŸใฏNPC2่›‹็™ฝใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹Cๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‚่‡“ใ€่„พ่‡“ใ€้ชจ้ซ„ใฎ็ถฒๅ†…็ณป็ดฐ่ƒžใจ็ฅž็ตŒ็ดฐ่ƒžใซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒณใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ€็ณ–่„‚่ณชใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ12ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚Aๅž‹ใฏไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใ€็ฒพ็ฅž้‹ๅ‹•้šœๅฎณใ€ๅž‚็›ดๆ–นๅ‘ใฎ็œผ็ƒ้‹ๅ‹•้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚Bๅž‹ใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใŒไธปไฝ“ใงใ‚ใ‚Šใ€็ฅž็ตŒ็—‡็Šถใฏไผดใ‚ใชใ„ใ€‚Cๅž‹ใฎ็™บ็—‡ๅนด้ฝขใฏๆง˜ใ€…ใงใ€่‚่„พ่…ซใ€ใ‚ซใ‚ฟใƒฌใƒ—ใ‚ญใ‚ทใƒผใ€ๅž‚็›ด็œผ็ƒ้‹ๅ‹•้šœๅฎณใ€ๅคฑ่ชฟใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€็—ดๅ‘†ใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบ็™บ็—‡ใงใฏ็—ดๅ‘†ใ€ๆŠ‘ใ†ใค็—‡็Šถใชใฉใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber3
dcterms:identifier2200561NANDO:2200924
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_089_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_04_017_01.pdf
rdfs:label - "Niemann-Pick disease" + "IPEX syndrome" @en
rdfs:label - "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…" + "IPEX็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ‚ใ„ใบใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_089/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3400
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_04_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2200923
skos:altLabel - "Niemann-Pick็—…" + "IPEX็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001982http://purl.obolibrary.org/obo/MONDO_0010580
skos:prefLabel - "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…" + "IPEX็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + "CEAS" + @en + + + + - +
http://nanbyodata.jp/ontology/nando#2200562 +
http://nanbyodata.jp/ontology/NANDO_2200925 (rdf:type owl:Class @@ -130469,79 +189107,93 @@

hasNotificationNumber116hasNotificationNumber33
dcterms:description - "ใ‚ดใƒผใ‚ทใ‚ง็—…ใฏใ€ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆๅˆฅๅฮฒโˆ’ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใŒไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใ—ใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹็ณ–่„‚่ณชใฎใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใŒ็ต„็น”ใซ่“„็ฉใ™ใ‚‹ใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นใฎใฒใจใคใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏใ€ไฝ“ไธญใฎใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ่“„็ฉใ—ใ€่‚่„พ่…ซใ€้ชจ็—›ใ‚„็—…็š„้ชจๆŠ˜ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚" + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใ†ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ—ใ‹ใ—ใ€‚้›ฃๆฒปๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅ†…็ง‘็š„ๆฒป็™‚ใจใ—ใฆใฏๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€้‡็—‡ไพ‹ใงใฏๅ…ฅ้™ขใ€็ตถ้ฃŸใ€ๅฎŒๅ…จ้™่„ˆๆ „้คŠใŒๅฟ…่ฆใจใชใ‚‹ใ€‚่…ธ็ฎก็‹ญ็ช„ใซๅฏพใ—ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Š่ค‡ๆ•ฐๅ›žใฎๅฐ่…ธๅˆ‡้™คใซใ‚ˆใ‚Šใ€็Ÿญ่…ธ็—‡ใ‚’ใใŸใ—ใ†ใ‚‹ใ€‚ๅฐๅ…ไพ‹ใงใฏใ€ๆ „้คŠ้šœๅฎณใชใฉใงๆˆ้•ท็™บ้”ใซใ‚‚ๆ‚ชๅฝฑ้Ÿฟใ‚’ใใŸใ—ใ€้ฃŸไบ‹ๅˆถ้™ใ€ๅ…ฅ้™ขๆฒป็™‚ใชใฉใงใ€ๆ—ฅๅธธ็”Ÿๆดปใ€ๅญฆๆ ก็”Ÿๆดปใ€็คพไผš็”Ÿๆดปใ‚‚้šœๅฎณใ•ใ‚Œใ€ๆ‚ฃๅ…ใฎQOLใฏ่‘—ใ—ใ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200562NANDO:2200925
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_090_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_05_018_01.pdf
rdfs:label - "Gaucher disease" + "Chronic nonspecific multiple ulcers of the small intestine" @en
rdfs:label - "ใ‚ดใƒผใ‚ทใ‚ง็—…" + "ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00126http://nanbyodata.jp/ontology/NANDO_1200902
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_090/https://www.shouman.jp/disease/details/12_05_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100261
skos:altLabel - "Gaucher็—…" - @ja
+ skos:altLabel + "Chronic enteropathy associated with SLCO2A1" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018150http://purl.obolibrary.org/obo/MONDO_0018766
skos:prefLabel - "ใ‚ดใƒผใ‚ทใ‚ง็—…" + "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" @ja
- - + - - + + - + - + - - - - + "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใตใœใ‚“๏ผˆใ“ใ‚“ใ™ใ„ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200563 +
http://nanbyodata.jp/ontology/NANDO_2200926 (rdf:type owl:Class @@ -130549,84 +189201,74 @@

hasNotificationNumber125hasNotificationNumber17
dcterms:description - "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ๅŠ ๆฐดๅˆ†่งฃ้…ต็ด ใฎไธ€ใคใงใ‚ใ‚‹ฮฑ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒญใƒœใƒˆใƒชใ‚ขใ‚ชใ‚ทใƒซใ‚ปใƒฉใƒŸใƒ‰ใŒใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ€ๅนณๆป‘็ญ‹็ดฐ่ƒžใ€ๆฑ—่…บใ€่…Ž่‡“ใ€ๅฟƒ็ญ‹ใ€่‡ชๅพ‹็ฅž็ตŒ็ฏ€ใ€่ง’่†œใซ่“„็ฉใ—ใ€่…Ž้šœๅฎณใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€็šฎ่†š็—…ๅค‰ใ€ๅ››่‚ขๆœซ็ซฏ็—›ใ€่ง’่†œๆททๆฟใชใฉใ‚’็”Ÿใ˜ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ใƒ˜ใƒ†ใƒญ็ตๅˆไฝ“ใฎๅฅณๆ€งใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚" + "่‚็ดฐ่ƒžใฎๆ€ฅ้€ŸใชๅฃŠๆญปใ‚ใ‚‹ใ„ใฏไปฃ่ฌๆฉŸ่ƒฝใฎ้šœๅฎณใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚Šใ€้‡็ฏคๅŒ–ใจใจใ‚‚ใซๅ‡ๅ›บ้šœๅฎณใ‚„ๆ„่ญ˜้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœฌ้‚ฆใงใฏๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถใ€Œ้›ฃๆฒปๆ€งใฎ่‚ใƒป่ƒ†้“็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใ€็ญ๏ผˆๆŒ็”ฐ็ญ๏ผ‰ใฎ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกๆ€ฅๆ€ง่‚ไธๅ…จใ‚’ใƒปๆญฃๅธธ่‚ใชใ„ใ—่‚ๆฉŸ่ƒฝใŒๆญฃๅธธใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹่‚ใซใƒป่‚้šœๅฎณใŒ็”Ÿใ˜ๅˆ็™บ็—‡็Šถๅ‡บ็พใ‹ใ‚‰8้€ฑไปฅๅ†…ใซใƒป้ซ˜ๅบฆใฎ่‚ๆฉŸ่ƒฝ้šœๅฎณใซๅŸบใคใ„ใฆใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆ™‚้–“ใŒ40%ไปฅไธ‹ใชใ„ใ—ใฏINRๅ€ค1.5ไปฅไธŠใ‚’็คบใ™ใ‚‚ใฎใ€€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใก่‚ๆ€งๆ˜็ก II ๅบฆไปฅไธŠใฎ่‚ๆ€ง่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ€Œๆ˜็กๅž‹ใ€ใงใ‚ใ‚‹ใ€‚ใ€€ใ—ใ‹ใ—ๅฐๅ…ใ€ใ“ใจใซไนณๅ…ใฎ่‚ๆ€ง่„ณ็—‡ใฏ่ฆณๅฏŸใซใ‚ˆใฃใฆๅˆคๅฎšใ™ใ‚‹ใ“ใจใŒๅฎนๆ˜“ใงใชใ„ใ€‚่ฟ‘ๅนดใฎๆฌง็ฑณใฎๅฐๅ…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏไบˆๅพŒใ‚’่งฃๆžใ—ใ€INRๅ€ค2.0ไปฅไธŠใงใ‚ใ‚Œใฐๆ„่ญ˜็Šถๆ…‹ใซใ‚ˆใ‚‰ใšๆ˜็กๅž‹ใจๅŒ็ญ‰ใจใ—ใฆๆ‰ฑใฃใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200563NANDO:2200926
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_091_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_06_019_01.pdf
rdfs:label - "Fabry disease" + "acute liver failure with hepatic coma" @en
rdfs:label - "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00125 + rdfs:label + "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_091/https://www.shouman.jp/disease/details/12_06_019/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165
- skos:altLabel - "Fabry็—…" - @jahttp://nanbyodata.jp/ontology/NANDO_2100262
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010526http://purl.obolibrary.org/obo/MONDO_0001548
skos:prefLabel - "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" + "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - - - - - + - + - + + "Neonatal haemochromatosis" + @en - +
http://nanbyodata.jp/ontology/nando#2200564 +
http://nanbyodata.jp/ontology/NANDO_2200927 (rdf:type owl:Class @@ -130634,84 +189276,86 @@

hasNotificationNumber115hasNotificationNumber44
dcterms:description - "ใ‚ฏใƒฉใƒƒใƒ™็—…๏ผˆKrabbe disease๏ผ‰ใฏใ€ใ‚ฐใƒญใƒœใ‚คใƒ‰็ดฐ่ƒž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆgloboid-cell leukodystrophy; GLD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใจๆœซๆขขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใฎ้šœๅฎณใ‹ใ‚‰่„ฑ้š๏ผˆ้ซ„้ž˜ใ€ใƒŸใ‚จใƒชใƒณใฎ็ ดๅฃŠ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใจๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใพใŸใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎใŠใ‚‚ใชๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏ่“„็ฉใ—ใชใ„ใŒใ€ๅพฎ้‡ใชๅŸบ่ณชใฎใ‚ตใ‚คใ‚ณใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็ดฐ่ƒž้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใ‹ใ‚‰่‚ๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€็ต„็น”ๅญฆ็š„ใซ่‚่‡“ใŠใ‚ˆใณใ€่†ต่‡“ใ‚„ๅฟƒ่‡“ใชใฉใฎ็ถฒๅ†…็ณปไปฅๅค–ใฎ่ซธ่‡“ๅ™จใซ้‰„ๆฒˆ็€ใ‚’่ชใ‚ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‰„ไปฃ่ฌ็•ฐๅธธใซ่ตทๅ› ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏ็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ€‚" @ja
dcterms:identifier2200564NANDO:2200927
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_092_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_07_020_01.pdf
rdfs:label - "Krabbe disease" + "Neonatal hemochromatosis" @en
rdfs:label - "ใ‚ฏใƒฉใƒƒใƒ™็—…" + "ใ—ใ‚“ใ›ใ„ใ˜ใธใ‚‚ใใ‚ใพใจใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2490
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00135http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2263
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_092/https://www.shouman.jp/disease/details/12_07_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100263
skos:altLabel - "Krabbe็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009499http://purl.obolibrary.org/obo/MONDO_0009275
skos:prefLabel - "ใ‚ฏใƒฉใƒƒใƒ™็—…" + "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" @ja
- - + - - + + - + - + + + + + - + - + - + + "AIH" + @en - +
http://nanbyodata.jp/ontology/nando#2200565 +
http://nanbyodata.jp/ontology/NANDO_2200928 (rdf:type owl:Class @@ -130719,79 +189363,86 @@

hasNotificationNumber124hasNotificationNumber43
dcterms:description - "ใƒ•ใ‚กใƒผใƒใƒผ็—…ใฏใ€้…ธๆ€งใ‚ปใƒฉใƒŸใƒ€ใƒผใ‚ผ๏ผˆN-ใ‚ขใ‚ทใƒซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใ‚ทใƒณใ‚ขใƒŸใƒ‰ใƒ’ใƒ‰ใƒญใƒฉใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅŸบ่ณชใงใ‚ใ‚‹ใ‚ปใƒฉใƒŸใƒ‰๏ผˆceramide๏ผ‰ใŒๆง˜ใ€…ใช็ต„็น”ใซ่“„็ฉใ—ใ€้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹้–ข็ฏ€ใฎๆœ‰็—›ๆ€ง่…ซ่„นใ€่‚‰่Šฝ่…ซๅฝขๆˆใ€ๆ‹˜็ธฎใฏๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚‹็‚Ž็—‡ๆ€งๅค‰ๅŒ–ใซๅŸบใฅใใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่‚็–พๆ‚ฃใงใ€้บไผ็š„็ด ๅ› ใ‚‚้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹ใ€‚ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅฐๅ…ๆœŸAIHใซใฏๅฅฝ็™บๅนด้ฝขใฏใชใใ€ไนณๅ…ๆœŸใ‹ใ‚‰ใ‚ใ‚‰ใ‚†ใ‚‹ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅ…ธๅž‹ไพ‹ใงใฏๆŠ—ๆ ธๆŠ—ไฝ“ใ€ๆŠ—ๅนณๆป‘็ญ‹ๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“้™ฝๆ€งใ€IgG้ซ˜ๅ€คใชใฉใฎ็‰นๅพดใŒใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใงใฏ่‡ชๅทฑๆŠ—ไฝ“้™ฐๆ€งใ€IgGๆญฃๅธธไพ‹ใŒๅคšใใ€่จบๆ–ญใŒ้›ฃใ—ใ„ใ€‚ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใซใฏ็ต„็น”ๅญฆ็š„ใซ็ทš็ถญๅŒ–ใŒ่ปฝๅบฆใ‚‚ใ—ใใฏใฟใ‚‰ใ‚Œใชใ„ๆ€ฅๆ€ง่‚็‚ŽๆœŸใจ็ทš็ถญๅŒ–ใŒ้€ฒ่กŒใ—ใฆใŠใ‚Šๆ…ขๆ€ง่‚็‚ŽใŒๅŸบ็คŽใซใ‚ใ‚‹ๆ€ฅๆ€งๅข—ๆ‚ชๆœŸใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200565NANDO:2200928
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_07_021_01.pdf
rdfs:label - "Farber disease" + "Autoimmune hepatitis" @en
rdfs:label - "ใƒ•ใ‚กใƒผใƒใƒผ็—…" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205http://nanbyodata.jp/ontology/NANDO_1200441
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_093/https://www.shouman.jp/disease/details/12_07_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100264
skos:altLabel - "Farber็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009218http://purl.obolibrary.org/obo/MONDO_0016264
skos:prefLabel - "ใƒ•ใ‚กใƒผใƒใƒผ็—…" + "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200566 +
http://nanbyodata.jp/ontology/NANDO_2200929 (rdf:type owl:Class @@ -130799,77 +189450,96 @@

hasNotificationNumber128hasNotificationNumber42
dcterms:description - "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ›ใƒซใƒŸใƒซใ‚ฐใƒชใ‚ทใƒณ็”Ÿๆˆ้…ต็ด ๏ผˆformyglycine-generating enzyme; FGE๏ผ‰ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹sulfatase modifying factor 1๏ผˆSUMF1๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€FGE่›‹็™ฝ่ณชใฎไธๅฎ‰ๅฎšๅŒ–ใ€ๅŸบ่ณชใจใฎๅนฒๆธ‰ใ€่ค‡ๆ•ฐใฎใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใƒ ใ‚ณๅคš็ณ–็—‡ใซ้กžไผผใ—ใŸๆง˜ใ€…ใช็ต„็น”้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚" + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary sclerosing cholangitis, PSC๏ผ‰ใฏ่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใซ็ทš็ถญๆ€ง็‹ญ็ช„ใจๆ‹กๅผตใ‚’็”Ÿใ˜ใ‚‹ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใชใฉใฎ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ๏ผˆinflammatory bowel disease, IBD๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅ…็–ซ็•ฐๅธธใ‚„้บไผ็š„็ด ๅ› ใฎ้–ขไธŽใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅฐๅ…ใงใฏ่‡ชๅทฑๅ…็–ซ็พ่ฑกใŒๅผทใใฟใ‚‰ใ‚Œใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใจใฎ้‘‘ๅˆฅใŒ้›ฃใ—ใ„็—‡ไพ‹ใ‚„ใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใจใฎๅˆไฝตไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200566NANDO:2200929
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_094_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_07_022_01.pdf
rdfs:label - "Multiple sulfatase deficiency" + "Primary sclerosing cholangitis" @en
rdfs:label - "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071http://nanbyodata.jp/ontology/NANDO_1200440
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00272http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9460
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_094/https://www.shouman.jp/disease/details/12_07_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100265
+ skos:altLabel + "PSC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010088http://purl.obolibrary.org/obo/MONDO_0013433
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018646
skos:prefLabel - "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" + "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + "BA" + @en - + + + + +
http://nanbyodata.jp/ontology/nando#2200567 +
http://nanbyodata.jp/ontology/NANDO_2200930 (rdf:type owl:Class @@ -130877,79 +189547,96 @@

hasNotificationNumber136hasNotificationNumber16
dcterms:description - "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅ› ใงใ‚ใ‚‹ใ€‚GNPTใฏใ€ฮฑ2ฮฒ2ฮณ2ใฎ6ใคใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‹ใ‚‰ใชใ‚Šใ€่ฒฌไปป้บไผๅญใฏฮฑใŠใ‚ˆใณฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNTPAB้บไผๅญใŠใ‚ˆใณฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNPG้บไผๅญใฎ2ใคใงใ‚ใ‚‹ใ€‚้…ต็ด ๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒ็”Ÿๆˆใ•ใ‚ŒใŸใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใธใฎใ‚ฟใƒผใ‚ฒใƒ†ใ‚ฃใƒณใ‚ฐใซ็•ฐๅธธใ‚’ใใŸใ—๏ผŒ็ดฐ่ƒžๅค–ใƒžใƒˆใƒชใƒƒใ‚ฏใ‚นใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใŒๆฉŸ่ƒฝใ™ใ‚‹ใŸใ‚ใซใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€ง็’ฐๅขƒใŒๅฟ…่ฆใงใ‚ใ‚‹ใŸใ‚๏ผŒๆ‚ฃ่€…ใงใฏ๏ผŒใ‚ใ‚‰ใ‚†ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใŒ็ดฐ่ƒžๅ†…ใงๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚" + "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซใ‹ใ‘ใฆ่‚ๅค–่ƒ†็ฎกใŒ็ ดๅฃŠใ•ใ‚Œใ€ใพใŸใฏๆถˆๅคฑใ™ใ‚‹ใŸใ‚ใซ้–‰ๅกžๆ€ง้ป„็–ธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃๅ…ใฎ่‚ๅค–่ƒ†็ฎกใฏ็”Ÿๆฅใ‚ใ‚‹ใ„ใฏ็”ŸๅพŒใพใ‚‚ใชใใ‹ใ‚‰ๅฎŒๅ…จ้–‰ๅกžใ‚’ๆฅใŸใ—๏ผŒๆ”พ็ฝฎใ™ใ‚Œใฐ่ƒ†ๆฑๆ€ง่‚็กฌๅค‰ใธใจ้€ฒ่กŒใ—ใฆๆญปใซ่‡ณใ‚‹ใ€‚ๆ•‘ๅ‘ฝใฎใŸใ‚ใซใฏๅค–็ง‘็š„ๆ‰‹่ก“ใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200567NANDO:2200930
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_095_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_023_01.pdf
rdfs:label - "Mucolipidosis II" + "biliary atresia" @en
rdfs:label - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…กๅž‹" + "ใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ƒ†้“้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2636http://nanbyodata.jp/ontology/NANDO_1200913
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_095/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1839
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100266
skos:altLabel - "I-cell็—…" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009650http://purl.obolibrary.org/obo/MONDO_0008867
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0028737
skos:prefLabel - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…กๅž‹" + "่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200568 +
http://nanbyodata.jp/ontology/NANDO_2200931 (rdf:type owl:Class @@ -130957,72 +189644,86 @@

hasNotificationNumber137hasNotificationNumber11
dcterms:description - "1ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ใฎ่ปฝ็—‡ๅž‹ใงใ€N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚‹ใ€‚ๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ใ€”็–ซๅญฆใ€•10ไธ‡๏ฝž20ไธ‡ไบบใซ1ไบบใใ‚‰ใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹๏ผˆใพใŸใฏๅคๅ…ธ็š„๏ผ‰ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ3็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200568NANDO:2200931
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_096_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_024_01.pdf
rdfs:label - "Mucolipidosis III" + "Alagille syndrome" @en
rdfs:label - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…ขๅž‹" + "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2637http://nanbyodata.jp/ontology/NANDO_1200918
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_096/https://www.shouman.jp/disease/details/12_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100266
+ skos:altLabel + "Alagille็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018931http://purl.obolibrary.org/obo/MONDO_0007318
skos:prefLabel - "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…ขๅž‹" + "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ‹ใ‚“ใชใ„ใŸใ‚“ใ‹ใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200569 +
http://nanbyodata.jp/ontology/NANDO_2200932 (rdf:type owl:Class @@ -131030,86 +189731,76 @@

hasNotificationNumber127hasNotificationNumber12
dcterms:description - "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซใŠใ‘ใ‚‹้…ธๆ€งฮฑ-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚Šใ€ไธปใซ็ญ‹็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใจใฏใ€่‚็”Ÿๆคœใงๅฐ่‘‰้–“่ƒ†็ฎกใฎๆธ›ๅฐ‘ใ‚’่ชใ‚ใ€็”ปๅƒๆคœๆŸปใชใฉใง่‚ๅค–่ƒ†็ฎกใซใฏ้–‰้Ž–ใŒใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚่‚ๅค–ๅˆไฝต็—‡ใ‚’ใ‚‚ใค็—‡ๅ€™ๆ€งใฎAlagille็—‡ๅ€™็พคใฏ้™คๅค–ใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่‚ๅค–็—…ๅค‰ใฎใชใ„ใ‚‚ใฎใ‚’ใ€Œ้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใ€ใจๅ‘ผใถใ€‚" @ja
dcterms:identifier2200569NANDO:2200932
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_097_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_025_01.pdf
rdfs:label - "Pompe disease" + "Non-syndromic paucity of intrahepatic bile duct" @en
rdfs:label - "ใƒใƒณใƒš็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2277 + rdfs:label + "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_097/https://www.shouman.jp/disease/details/12_08_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100266
skos:altLabel - "Pompe็—…" + "้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡" @ja
- skos:altLabel - "glycogen storage disease type II" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009290
skos:prefLabel - "ใƒใƒณใƒš็—…" + "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200570 +
http://nanbyodata.jp/ontology/NANDO_2200933 (rdf:type owl:Class @@ -131117,74 +189808,86 @@

hasNotificationNumber117hasNotificationNumber13
dcterms:description - "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒใปใจใ‚“ใฉใฎๅ†…่‡“็ต„็น”ไธญใฎ็ต„็น”็ƒๆ€งๆณกๆฒซ็ดฐ่ƒžใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใจใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎใƒฉใ‚คใ‚ฝใ‚ฝใƒผใƒ ่“„็ฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ้‡็—‡ๅž‹ใฎWolman็—…๏ผˆWolman disease๏ผ‰ใจ่ปฝ็—‡ๅž‹ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡๏ผˆcholesterol ester storage disease๏ผšCESD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚" + "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡(Progressive familial intrahepatic cholestasis ; PFIC)ใฏใ€ไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅฎถๆ—ๆ€งใฎ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚็‰นๅพดใจใ—ใฆใฏใ€็พๅœจใพใงใซ3็จฎ้กžใฎ็•ฐใชใ‚‹้บไผๅญ็•ฐๅธธใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚ŒใซๅŸบใฅใ„ใฆ1-3ๅž‹ใฎ3็—…ๅž‹(PFIC1-3)ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€PFIC1, 2ใงใฏ่ก€ๆธ…็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธใŠใ‚ˆใณASTใƒปALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ฮณGTPๅ€คใŒๆญฃๅธธใ‚‚ใ—ใใฏ่ปฝๅบฆ้ซ˜ๅ€คใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ„ใšใ‚Œใ‚‚ไนณๅ…ๆœŸใ‹ใ‚‰ๆ…ขๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžใ‚’ๅ‘ˆใ—ใ€้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใŒใ€PFIC1ใงใฏไธ‹็—ขใ€่†ตๆฉŸ่ƒฝไธๅ…จใ€้›ฃ่ดใชใฉ่‚ๅค–็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใฎใซๅฏพใ—ใ€PFIC2ใฏ็—‡็ŠถใŒ่‚ใซ้™ๅฑ€ใ™ใ‚‹ไธ€ๆ–นใงๆ—ฉๆœŸใซ่‚ไธๅ…จใŒ้€ฒ่กŒใ—ใ€ๆ™‚ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไฟๅญ˜็š„ๆฒป็™‚ใฎ็„กๅŠนไพ‹ใฏ่‚็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใŒใ€็งปๆคๅพŒใฎ็ตŒ้Žใฏ่‚ๅค–็—‡็Šถใฎๆœ‰็„กใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚PFIC3ใฏๆ—ฅๆœฌไบบใงใฏ็™บ็—‡ใŒๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200570NANDO:2200933
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_098_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_026_01.pdf
rdfs:label - "Acid lipase deficiency" + "progressive familial intrahepatic cholestasis" @en
rdfs:label - "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_098/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00624
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100266
skos:altLabel - "Wolman disease and cholesterol ester storage disease" + "PFIC" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019148http://purl.obolibrary.org/obo/MONDO_0015762
skos:prefLabel - "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" + "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200571 +
http://nanbyodata.jp/ontology/NANDO_2200934 (rdf:type owl:Class @@ -131192,72 +189895,91 @@

hasNotificationNumber121hasNotificationNumber14
dcterms:description - "ใ‚ทใ‚นใƒใƒณใŒ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚3ๅž‹ใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€่…Ž๏ผˆไนณๅ…๏ผ‰ๅž‹ใฏใ€ใ™ในใฆใฎ็ดฐ่ƒžๅ†…ใงใ‚ทใ‚นใƒใƒณใŒ่“„็ฉใ—ใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š่…Žๆ€งใƒ•ใ‚กใƒณใ‚ณใƒ‹ใƒผ็—‡ๅ€™็พคใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธญ้–“๏ผˆ่‹ฅๅนด๏ผ‰ๅž‹ใฏใ€็ดฐ่ƒžๅ†…ใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎ้€ฒ่กŒใฏ็ทฉๅพใงใ€็™บ็—‡ใฏๆ€ๆ˜ฅๆœŸไปฅ้™ใงใ‚ใ‚‹ใ€‚้ž่…Ž๏ผˆ็œผ๏ผ‰ๅž‹ใฏใ€่ง’่†œใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎใฟใŒ็—‡็Šถใงใ‚ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€งใฎ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ใงใ‚ใฃใฆใ€่‚‰็œผใง่‚ๅ†…่ƒ†็ฎกใฎๅคš็™บๆ€งใƒปๅˆ†็ฏ€็Šถใƒปๅšข็Šถใฎๆ‹กๅผตใ‚’ใฟใ‚‹ใ‚‚ใฎใŒๅคๅ…ธ็š„ใงใ‚ใ‚‹ใ€‚ๆฌง็ฑณใงCaroli disease ใฏๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ—ใ€ไผดใ†ใ‚‚ใฎใฏCaroli syndrome ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใงใ‚ซใƒญใƒช(Caroli)็—…ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏCaroli syndromeใซ็›ธๅฝ“ใ—ใ€ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ†ใ‚‚ใฎใŒๅคง้ƒจๅˆ†ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200571NANDO:2200934
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_099_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_027_01.pdf
rdfs:label - "Cystinosis" + "Caroli Disease" @en
rdfs:label - "ใ‚ทใ‚นใƒใƒณ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใฏใคใ‹ใ‚“ใชใ„ใŸใ‚“ใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00275http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3737
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_099/https://www.shouman.jp/disease/details/12_08_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100266
+ skos:altLabel + "ใ‚ซใƒญใƒช็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016239http://purl.obolibrary.org/obo/MONDO_0010913
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018808
skos:prefLabel - "ใ‚ทใ‚นใƒใƒณ็—‡" + "ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ‚“ใฉใ†ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200572 +
http://nanbyodata.jp/ontology/NANDO_2200935 (rdf:type owl:Class @@ -131265,96 +189987,69 @@

hasNotificationNumber138hasNotificationNumber15
dcterms:description - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ่†œใซใŠใ‘ใ‚‹ใ‚ทใ‚ขใƒซ้…ธใฎ่ผธ้€้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ้Š้›ขใ‚ทใ‚ขใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰่ปฝ็—‡ๅž‹ใฏSalla็—…ใ€้‡็—‡ๅž‹ใฏไนณๅ…้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใŠใ‚ˆใณใใฎไธญ้–“ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ใฏ่‚ๅ†…่ƒ†็ฎกใ‚„่‚ๅค–่ƒ†็ฎกใ‚‚ใ—ใใฏไธกๆ–นใŒๆ‹กๅผตใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏๅ…ˆๅคฉ็š„ใช่ฆๅ› ใŒ่€ƒใˆใ‚‰ใ‚Œใ€ๅฐๅ…ใซๅคšใใ€็จ€ใซๆˆไบบใซใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹็š„ใชใ‚‚ใฎใฏ่‘—ใ—ใ„็ท่ƒ†็ฎกๆ‹กๅผตใŒใ‚ใ‚Šใ€ๅšข่…ซ็Šถใฎๆ‹กๅผตใ‚’็คบใ™ใ“ใจใ‚ˆใ‚Šใ€็ท่ƒ†็ฎกๅšข่…ซใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200572NANDO:2200935
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_100_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_028_01.pdf
rdfs:label - "Free Sialic Acid Storage Disease" + "congenital biliary dilatation" @en
rdfs:label - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4251 + rdfs:label + "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_100/https://www.shouman.jp/disease/details/12_08_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165
- skos:altLabel - "Salla Disease" - @en
- skos:altLabel - "infantile Free Sialic Acid Storage Disease" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010027
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011449
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019366http://nanbyodata.jp/ontology/NANDO_2100266
skos:prefLabel - "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡" @ja
- - + - - + + - + - + + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ„ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200573 +
http://nanbyodata.jp/ontology/NANDO_2200936 (rdf:type owl:Class @@ -131362,79 +190057,81 @@

hasNotificationNumber122hasNotificationNumber10
dcterms:description - "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใฏ็—…็†ๅญฆ็š„ใซ่ฆๅฎšใ•ใ‚Œใ‚‹็ฅž็ตŒๅค‰ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็ฅž็ตŒ็ดฐ่ƒžใ€ๅฟƒ็ญ‹ใ€้ชจๆ ผ็ญ‹ใซ้›ปๅญๅฏ†ๅบฆใŒ้ซ˜ใใ€่‡ชๅฎถ่›ๅ…‰ใ‚’็™บใ™ใ‚‹ใƒชใƒใƒ•ใ‚นใƒใƒณ้ก†็ฒ’ใฎ่“„็ฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใฏใ€็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ไธ€่ฆ‹ใ™ใ‚‹ใจ่‚็กฌๅค‰ใซ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€ๅฐ่‘‰ใฎๆง‹็ฏ‰ใฏไฟใŸใ‚ŒใฆใŠใ‚Šใ€ๅ„้–€่„ˆๅŸŸ้–“ใ‚’้€ฃ็ตใ™ใ‚‹่‘—ๆ˜Žใช็ทš็ถญๅŒ–ใจ่‚ๅ†…่ƒ†็ฎกใฎๆ‹กๅผตใ€ใคใถใ‚ŒใŸ้–€่„ˆใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200573NANDO:2200936
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_09_029_01.pdf
rdfs:label - "Neuronal Ceroid Lipofuscinoses" + "congenital hepatic fibrosis" @en
rdfs:label - "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00149 + rdfs:label + "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_101/https://www.shouman.jp/disease/details/12_09_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100267
skos:altLabel - "NCL" + "CHF" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016295http://purl.obolibrary.org/obo/MONDO_0018840
skos:prefLabel - "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" + "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" @ja
- - + - - + + - + - + + "Liver Cirrhosis" + @en + "ใ‹ใ‚“ใ“ใ†ใธใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200574 +
http://nanbyodata.jp/ontology/NANDO_2200937 (rdf:type owl:Class @@ -131442,62 +190139,74 @@

hasNotificationNumber139hasNotificationNumber9
dcterms:description - "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€็ดฐ่ƒžๅ†…ใซใ‚ใ‚‹ๅฐๅ™จๅฎ˜ใฎไธ€ใคใงใ‚ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใ‚„็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใฃใฆใ€ๅˆ†่งฃใ•ใ‚Œใ‚‹ในใ็‰ฉ่ณชใŒ่€ๅปƒ็‰ฉใจใ—ใฆไฝ“ๅ†…ใซ่“„็ฉใ—ใฆใ—ใพใ†ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚่“„็ฉ็‰ฉ่ณชใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹75ใ€œ101ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "่‚็กฌๅค‰ใฏๆ…ขๆ€ง่‚็–พๆ‚ฃใซใ‚ˆใ‚‹่‚็ดฐ่ƒžๅฃŠๆญปใŒ่‡ณใ‚‹็ต‚ๆœซๅƒใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซ่‚็ดฐ่ƒžใฎๅฃŠๆญปใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹ๅฐ่‘‰ๆ”น็ฏ‰ใ€ๅ†็”Ÿ็ต็ฏ€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚่‡“ใฎๅพช็’ฐ้šœๅฎณใจ่‚็ดฐ่ƒžใฎๆฅต็ซฏใชๆธ›ๅฐ‘ใŒๅŸบๆœฌ็š„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200574NANDO:2200937
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_06_102_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_09_030_01.pdf
rdfs:label - "75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" - @ja
rdfs:label - "Other lysosomal diseases" - @en
+ rdfs:label + "่‚็กฌๅค‰็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_102/https://www.shouman.jp/disease/details/12_09_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100165http://nanbyodata.jp/ontology/NANDO_2100268
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005155
skos:prefLabel - "75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…" + "่‚็กฌๅค‰็—‡" @ja
- - + - - + + - + - + + "ใ‚‚ใ‚“ใฟใ‚ƒใใ‚ใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200575 +
http://nanbyodata.jp/ontology/NANDO_2200938 (rdf:type owl:Class @@ -131505,77 +190214,86 @@

hasNotificationNumber83hasNotificationNumber7
dcterms:description - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡(Peroxisome Biogenesis Disorders; PBD)ใฏใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใฎ่†œใฎ็”Ÿๅˆๆˆใ‚„่›‹็™ฝใฎๅฑ€ๅœจใซใ‹ใ‹ใ‚ใ‚‹PEX้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ่‡ชไฝ“ใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใใ“ใซๅฑ€ๅœจใ™ในใ่›‹็™ฝใฎใ‹ใ‹ใ‚ใ‚‹ไปฃ่ฌๆฉŸ่ƒฝใŒๅบƒ็ฏ„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใพใงใซ็—…ๅ› ใจใ•ใ‚Œใ‚‹PEX้บไผๅญใฏ13ๅ€‹ๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎใ†ใก่‡ดๆญปๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใง็‚น็Šถ็Ÿณ็ฐๅŒ–ใ‚’ไผดใ†่ฟ‘ไฝๅ„ชไฝใฎๅ››่‚ข็Ÿญ็ธฎ็—‡Rhizomelic chondrodysplasia punctate (RCDP) type1ใฎ็—…ๅ› ใงใ‚ใ‚‹PEX7ใ‚’้™คใ12ๅ€‹ใฎPEX้บไผๅญ็•ฐๅธธ็—‡ใŒZellwegerใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใจใ—ใฆใ€่‡จๅบŠ็š„ใช้‡็—‡ๅบฆใซใ‚ˆใ‚Šๆœ€้‡็—‡ๅž‹ใฎZellweger็—‡ๅ€™็พค(Zellweger syndrome; ZS)ใ€ใ‚„ใ‚„่ปฝ็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(neonatal adrenoleukodystrophy; NALD)ใ€ๆˆไบบ็”Ÿๅญ˜ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ไนณๅ…ๅž‹Refsum็—…(infantile Refsum disease; IRD)ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "้–€่„ˆ่ก€ๆตใฎ็•ฐๅธธใซใฏใ€้–€่„ˆๅœงไบข้€ฒใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใจไผดใ†ใ‚‚ใฎใŒใ‚ใ‚Šใ€ไผดใ‚ใชใ„ใ‚‚ใฎใฏใ€Œ็ดฐๅˆ†้กž28. ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ใ€ใฎ้ …ใง่ฟฐในใฆใ„ใ‚‹ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใฏ้–€่„ˆๅœงใงๅฎš็พฉใ•ใ‚Œใ‚‹ใŒ่‡จๅบŠ็š„ใซใฏๅฟ…ใšใ—ใ‚‚ๅœงๆธฌๅฎšใ‚’่ฆใ•ใชใ„ใ€‚ใ€€้–€่„ˆๅœงไบข้€ฒ็—‡ใฎใ†ใกใ€่‚็กฌๅค‰ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใฏ้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆNon-cirrhotic portal hypertension, NCPH๏ผ‰ใงใ‚ใ‚‹1ใ€‚NCPHใฎใ†ใกใ€ๅฐๅ…ใงๅคšใ„ใ‚‚ใฎใฏ่‚ๅค–้–€่„ˆ้–‰ๅกž็—‡๏ผˆextrahepatic portal vein obstruction, EHPVO๏ผ‰ใงใ‚ใ‚‹ใ€‚่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใซใฏ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆidiopathic portal hypertension, IPHใพใŸใฏใƒใƒณใƒ๏ผˆBanti๏ผ‰็—‡ๅ€™็พค2๏ผ‰ใ€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ใ€€EHPVOใฏ่‚ๅ‰ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้–€้ƒจใ‚’ๅซใ‚€่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใŒใ‚ใฃใฆ้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใฃใŸ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่‚้–€้ƒจใซ็™บ้”ใ—ใŸๆฑ‚่‚ๆ€งๅดๅ‰ฏ่ก€่กŒ่ทฏใ‚’่ชใ‚ใ€ใ“ใ‚Œใ‚’ๆตท็ถฟ็Šถ่ก€็ฎกๅข—็”Ÿใจๅฝขๅฎนใ™ใ‚‹3, 4ใ€‚ใ€€IPHใฏ่‚ๅ†…ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚ๅ†…้–€่„ˆใฎๆœซๆขขใง้–‰ๅกžใƒป็‹ญ็ช„ใ‚’ใใŸใ—้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใงๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚็ต„็น”ๅญฆ็š„ใซ่‚ๅ†…้–€่„ˆใฎๆœซๆขขใซๆฝฐใ‚Œใƒป็‹ญๅฐๅŒ–ใƒป็กฌๅŒ–ๆ€งๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹3, 4ใ€‚ใ€€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใฏ่‚ๅพŒๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้™่„ˆไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใ‹ใ‚‰้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ๆŒ‡ใ™3, 4ใ€‚ใ€€ไปฅไธŠใฎใปใ‹ใซใ‚‚ๅธŒๅฐ‘ใงๅคšๅฝฉใช้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200575NANDO:2200938
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_07_103_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_10_031_01.pdf
rdfs:label - "Peroxisome Biogenesis Disorders" + "Portal hypertension" @en
rdfs:label - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00205 + rdfs:label + "้–€่„ˆๅœงไบข้€ฒ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_103/https://www.shouman.jp/disease/details/12_10_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100166http://nanbyodata.jp/ontology/NANDO_2100269
+ skos:altLabel + "Banti syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019234http://purl.obolibrary.org/obo/MONDO_0005080
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019609http://purl.obolibrary.org/obo/MONDO_0021969
skos:prefLabel - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡" + "้–€่„ˆๅœงไบข้€ฒ็—‡" @ja
- - + - - + + - + - + - - - - + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200576 +
http://nanbyodata.jp/ontology/NANDO_2200939 (rdf:type owl:Class @@ -131583,82 +190301,69 @@

hasNotificationNumber82hasNotificationNumber6
dcterms:description - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(adrenoleukodystrophy; ALD)ใฏไธญๆžข็ฅž็ตŒใฎ็™ฝ่ณชใจๅ‰ฏ่…Žใฎ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ€๏ผ“ใ€œ10ๆญณใง็™บ็—‡ใ—ใฆๅคง่„ณๅŠ็ƒใฎๅบƒ็ฏ„ใช้€ฒ่กŒๆ€ง่„ฑ้ซ„ใจๅ‰ฏ่…ŽๆฉŸ่ƒฝไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹ๅฐๅ…ๅคง่„ณๅž‹ใ‚„20ๆญณไปฅ้™ใซ็—™ๆ€งๆญฉ่กŒใง็™บ็—‡ใ™ใ‚‹adrenomyeloneuropathy (AMN)ใ€ๆˆไบบใงๆ€งๆ ผๅค‰ๅŒ–ใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็ฒพ็ฅž็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ๆˆไบบๅคง่„ณๅž‹ใซใ€ๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใฎใฟใฎใ‚ฟใ‚คใƒ—ใชใฉๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚’ๆœ‰ใ—ใฆใ„ใ‚‹ใ€‚็—…ๅ› ใฏXq28ใซๅญ˜ๅœจใ™ใ‚‹ABCD1้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ—ใ‹ใ—ใใฎ็—…ๆ…‹ใซใคใ„ใฆใฏใปใจใ‚“ใฉ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚‚้บไผๅญๅค‰็•ฐใจใฏ็›ธ้–ขใŒ็„กใใ€่„ฑ้ซ„ใฎ็™บ็—‡ๆฉŸๅบใ‚„ๆฅต้•ท้Ž–่„‚่‚ช้…ธ่“„็ฉใฎ็—…ๆ…‹ใธใฎ้–ขไธŽใ‚‚ๆœช่งฃๆ˜Žใงใ‚ใ‚‹ใ€‚ใพใŸๅคง่„ณๅž‹ใฎๅ”ฏไธ€ใฎๆฒป็™‚ๆณ•ใฏ็™บ็—‡ๆ—ฉๆœŸใฎ้€ ่ก€็ดฐ่ƒž็งปๆคใงใ‚ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡๏ผˆcongenital absence of the portal vein, CAPV๏ผ‰ใฏใ€ๅ…ˆๅคฉๆ€งใฎ้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š้–€่„ˆไฝŽๅฝขๆˆใพใŸใฏๆฌ ๆใซใ‚ˆใ‚Š้–€่„ˆ่ก€ๆตใŒ่‚ใ‚’ๅๅˆ†็Œๆตใ—ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚1793ๅนดใซAbernethyใŒๆœ€ๅˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹ใ€‚1990ๅนดไปฃใ‹ใ‚‰ๆ€ฅ้€Ÿใซ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใ€CAPVใจๅŒใ˜่ก€่กŒๅ‹•ๆ…‹ใจ็—‡็Šถใ‚’็คบใ™ใ€ๅคšๅฝฉใชๅ…ˆๅคฉๆ€ง้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital portosystemic shunt, CPSS๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็Ÿญ็ตก่ก€็ฎกใŒ่‚ๅค–ใซใ‚ใ‚‹ใ‹่‚ๅ†…ใซใ‚ใ‚‹ใ‹ใงๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‚ๅค–ใซใ‚ใ‚‹ๅ ดๅˆใฏๅ…ˆๅคฉๆ€ง่‚ๅค–้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital extrahepatic portosystemic shunt, CEPS๏ผ‰ใงใ‚ใ‚Šใ€CAPVใชใ„ใ—Abernethy malformationใ‚’ๅซใ‚€ใ€‚Morganใฏ1994ๅนดใซCAPVใ‚’Type Iใ€Type IIใจๅˆ†้กžใ—ใŸ1ใ€‚Howardใฏ1997ๅนดใซCEPSใ‚’Type 1 (End-to-side)ใ€Type 2 (Side-to-side) ใจๅˆ†้กžใ—ใฆใŠใ‚Š2ใ€ไธก่€…ใฏๆฆ‚ใญไธ€่‡ดใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎKobayashiใฎๅˆ†้กž3ใ‚‚็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚่‚ๅ†…ใซใ‚ใ‚‹ๅ ดๅˆใฏ่‚ๅ†…้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š1990ๅนดใซParkใŒ่จ˜่ฟฐใ—ใŸๅˆ†้กž4ใ‚’่ธ่ฅฒใ—ใ€Type 1ใ‹ใ‚‰Type 4ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚้™่„ˆ็ฎก้–‹ๅญ˜ใฏType 5 ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใฎ่‡จๅบŠ็ ”็ฉถใซใ‚ˆใ‚ŠๅฎŸ็”จ็š„ใชๅˆ†้กžใŒๅฏ่ƒฝใซใชใ‚Šใ€็—…ๅž‹ใจ่ก“ๅผใŠใ‚ˆใณไบˆๅพŒใ‚’้–ข้€ฃใฅใ‘ใŸBlancใฎๅˆ†้กž5ใ€้–‰ๅกž่ฉฆ้จ“ๆ™‚ใฎ้–€่„ˆๅœงใซใ‚ˆใ‚‹ๅˆ†้กž6, 7ใŒใ•ใ‚Œใ€่จบๆ–ญใจๆฒป็™‚ใŒ็ตใณใคใใ‚ˆใ†ใซใชใฃใฆๆฅใŸใ€‚" @ja
dcterms:identifier2200576NANDO:2200939
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_10_032_01.pdf
rdfs:label - "Adrenoleukodystrophy" + "Congenital Absence of Portal Vein" @en
rdfs:label - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3238
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00176 + rdfs:label + "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_104/https://www.shouman.jp/disease/details/12_10_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100166
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010247
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018544http://nanbyodata.jp/ontology/NANDO_2100270
skos:prefLabel - "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใ‚‚ใ‚“ใฟใ‚ƒใใƒปใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200577 +
http://nanbyodata.jp/ontology/NANDO_2200940 (rdf:type owl:Class @@ -131666,79 +190371,69 @@

hasNotificationNumber84hasNotificationNumber8
dcterms:description - "ใƒฌใƒ•ใ‚ตใƒ ็—…ใฏใ€โ€heredopathia atactica polyneuritiformisโ€ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๆ‚ฃ่€…ใฏ่‹ฑๅ›ฝใ‚„ๅŒ—ๆฌงใซๅคšใ„ใ€‚็„กๅ—…่ฆš็—‡ใƒปๆ—ฉๆœŸ็™บ็—‡ใฎ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใซๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ€้ญš้ฑ—็™ฌใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹phytanic-CoA hydroxylase (phyH) ใฎๆฌ ๆใซใ‚ˆใ‚Š่ก€ไธญใฎใƒ•ใ‚ฃใ‚ฟใƒณ้…ธใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚" + "ๅ…ˆๅคฉๆ€งใฎๅ‹•้™่„ˆ็˜ปใฎใ†ใกใ€่‚ๅ‹•่„ˆใจ้–€่„ˆ็ณปใฎใ‚ใ„ใ ใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใŸใ‚‚ใฎใ‚’่จ€ใ†ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใงๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200577NANDO:2200940
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_07_105_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_10_033_01.pdf
rdfs:label - "Refsum disease" + "Congenital Hepatoportal Arteriovenous Fistula" @en
rdfs:label - "ใƒฌใƒ•ใ‚ตใƒ ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2946 + rdfs:label + "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_105/https://www.shouman.jp/disease/details/12_10_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100166
- skos:altLabel - "Refsum็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009958http://nanbyodata.jp/ontology/NANDO_2100271
skos:prefLabel - "ใƒฌใƒ•ใ‚ตใƒ ็—…" + "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" @ja
- - + - - + + - + - + + "Crigler-Najjar syndrome" + @en + "ใใ‚Šใใ‚‰ใƒผใƒปใชใ˜ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200578 +
http://nanbyodata.jp/ontology/NANDO_2200941 (rdf:type owl:Class @@ -131746,62 +190441,86 @@

hasNotificationNumber85hasNotificationNumber18
dcterms:description - "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใ“ใ‚Œใ‚‰ใฎ้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใ‚„่†œใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใฎใซๅฟ…่ฆใชPEX้บไผๅญใฎ็•ฐๅธธ๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ2ใคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹103ใ€œ105ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "้บไผๆ€งใฎ้žๆŠฑๅˆๅž‹้ซ˜ใƒ“ใƒชใƒซใƒ“ใƒณ่ก€็—‡ใฏใ€ใƒ“ใƒชใƒซใƒ“ใƒณUDP-ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธ่ปข็งป้…ต็ด ๏ผˆUGT1A1๏ผ‰ใซใ‚ˆใ‚‹ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆใŒ้šœๅฎณใ•ใ‚Œใฆ่ตทใใ‚‹ใ‚‚ใฎใจใ€ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆๅพŒใฎ่‚็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกใ€่ก€ๆธ…ใƒ“ใƒชใƒซใƒ“ใƒณๅ€คใŒ30-50๏ผˆmg/dl๏ผ‰ใจ้ซ˜ๅ€คใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใฎใŒใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค๏ผˆCN๏ผ‰ type Iใ€6-20๏ผˆmg/dl๏ผ‰ใงใ‚ใ‚‹ใ‚‚ใฎใŒtype IIใ€1-5๏ผˆmg/dl๏ผ‰็จ‹ๅบฆใพใงใงใ‚ใ‚‹ใ‚‚ใฎใŒGilbert็—‡ๅ€™็พค๏ผˆGS๏ผ‰ใงใ‚ใ‚‹1ใ€‚" @ja
dcterms:identifier2200578NANDO:2200941
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_07_106_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_11_034_01.pdf
rdfs:label - "103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" - @ja
rdfs:label - "Other peroxisomal diseases" - @en
+ rdfs:label + "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_106/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02054
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_11_034/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100166http://nanbyodata.jp/ontology/NANDO_2100272
+ skos:altLabel + "Crigler-Najjar็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009044
skos:prefLabel - "103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…" + "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200579 +
http://nanbyodata.jp/ontology/NANDO_2200942 (rdf:type owl:Class @@ -131809,84 +190528,84 @@

hasNotificationNumber25hasNotificationNumber31
dcterms:description - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€ง้Š…ไปฃ่ฌ็•ฐๅธธ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ่‚่‡“ใ‚’ใฏใ˜ใ‚๏ผŒๅคง่„ณๅŸบๅบ•้ƒจ๏ผŒ่ง’่†œใŠใ‚ˆใณ่…Ž่‡“ใชใฉใซ้Žๅ‰ฐใช้Š…ใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒ็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ" + "้บไผๆ€ง่†ต็‚Žใจใฏใ€ๅบƒ็พฉใซใฏๅฎถ็ณปๅ†…ใซ2ไบบไปฅไธŠใฎๆ‚ฃ่€…ใŒใฟใ‚‰ใ‚Œใ‚‹่†ต็‚Ž๏ผˆๅฎถๆ—ๆ€ง่†ต็‚Ž๏ผ‰ใงใ‚ใฃใฆๅฐ‘ใชใใจใ‚‚๏ผ‘ไบบใซๆ—ข็Ÿฅใฎๆˆๅ› ใ‚’่ชใ‚ใชใ„ๅฎถ็ณปๅ†…้›†็ฉๆ€งใ‚’็คบใ™ๅ†็™บๆ€ง่†ต็‚Žใ‚„ๆ…ขๆ€ง่†ต็‚Žใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใ€้บไผๅญฆ็š„่จบๆ–ญๆ‰‹ๆณ•ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎๆ‚ฃ่€…ใงใฏPRSS1ใ‚„SPINK1้บไผๅญใชใฉใฎ้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใŸใ€‚ๅ‰่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒๅญค็™บไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ€ๅพŒ่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใจใ‹ใ‚‰่†ต็‚Žใฎๅฎถๆ—ๆญดใฏๅฟ…้ ˆใงใฏใชใ„ใ€‚" @ja
dcterms:identifier2200579NANDO:2200942
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_08_107_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_12_035_01.pdf
rdfs:label - "Wilson disease" + "Hereditary Pancreatitis" @en
rdfs:label - "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" + "ใ„ใงใ‚“ใ›ใ„ใ™ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "้บไผๆ€ง่†ต็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3187http://nanbyodata.jp/ontology/NANDO_1200921
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00210http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1171
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_107/https://www.shouman.jp/disease/details/12_12_035/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100167
- skos:altLabel - "Wilson็—…" - @jahttp://nanbyodata.jp/ontology/NANDO_2100273
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010200http://purl.obolibrary.org/obo/MONDO_0008185
skos:prefLabel - "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…" + "้บไผๆ€ง่†ต็‚Ž" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200580 +
http://nanbyodata.jp/ontology/NANDO_2200943 (rdf:type owl:Class @@ -131894,79 +190613,79 @@

hasNotificationNumber29hasNotificationNumber32
dcterms:description - "้Š…ใฎ่…ธ็ฎกใงใฎๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€่‘—ๆ˜Žใช้Š…ๆฌ ไน้šœๅฎณใ‚’ใใŸใ™XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚Š้‡็ฏคใชไธญๆžข็ฅž็ตŒ้šœๅฎณใ€็‰นๅพด็š„ใชkinky hairใ€็ตๅˆ็น”็•ฐๅธธ๏ผˆ่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎกใฎ่„†ๅผฑใƒป่›‡่กŒใ€้ชจ็ฒ—้ฌ†็—‡ใ€็šฎ่†šใƒป้–ข็ฏ€ใฎ้Žไผธๅฑ•๏ผ‰ใ‚’ใใŸใ™ใ€‚็ฅž็ตŒ้šœๅฎณใฏ็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ๆœˆใ”ใ‚ใซ็™บ็—‡ใ™ใ‚‹ใ€‚็ฅž็ตŒ้šœๅฎณ็™บ็—‡ๅ‰ใซใƒ’ใ‚นใƒใ‚ธใƒณ้Š…็šฎไธ‹ๆณจๅฐ„ใฎๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚Œใฐใ€็ฅž็ตŒ้šœๅฎณใฏไบˆ้˜ฒใชใ„ใ—ใฏ่ปฝๆธ›ใงใใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆฒป็™‚้–‹ๅง‹ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒ้šœๅฎณใฏๅ…จใๆ”นๅ–„ใ—ใชใ„ใ€‚็–ซๅญฆ๏ผšๆˆ‘ใŒๅ›ฝใงใฎ็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ็”ทๅญ็ด„12ไธ‡ไบบใซ1ไบบใจๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ”ใใพใ‚Œใซๅฅณๅญใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚" + "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใจใฏใใฎ็™บ็—‡ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹่†ต็‚Žใงใ‚ใ‚‹๏ผŽ2002ๅนดใซๅˆใ‚ใฆใใฎ่จบๆ–ญๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œ๏ผŒใ“ใ‚Œใพใงใซๆˆไบบ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซๅคšใใฎ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใฆใ„ใ‚‹๏ผŽ่‡จๅบŠๅƒใŠใ‚ˆใณ็—…็†็ต„็น”ๅญฆ็š„ใช้•ใ„ใ‹ใ‚‰ใ€1ๅž‹ใจ2ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚1ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏใ€ใ—ใฐใ—ใฐ้–‰ๅกžๆ€ง้ป„็–ธใง็™บ็—‡ใ—ใ€็™บ็—‡ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใง็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ้ซ˜ๅบฆใชๆตธๆฝคใจ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚IgG4้–ข้€ฃ็–พๆ‚ฃใฎ่†ต็—…ๅค‰ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚2ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏๆฏ”่ผƒ็š„่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ใ—ใฐใ—ใฐ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€IgG4ไธŠๆ˜‡ใชใฉใฎ่ก€ๆธ…ๅญฆ็š„็•ฐๅธธๆ‰€่ฆ‹ใซไนใ—ใ„ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๅฅฝไธญ็ƒๆตธๆฝคใซใ‚ˆใ‚‹่†ต็ฎกไธŠ็šฎ็ ดๅฃŠๅƒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ€€1ๅž‹ใ€2ๅž‹ใจใ‚‚ใซใณใพใ‚“ๆ€ง่†ต่…ซๅคงใ€่†ต็ฎก็‹ญ็ดฐๅƒใชใฉใฎ็”ปๅƒๆ‰€่ฆ‹ใ‚’็‰นๅพดใจใ—ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ€‚1ๅž‹ใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ไพ‹ใฎ20-40%ใ€็ถญๆŒ็™‚ๆณ•ไธญใฎ20-30%ใซ่†ต็‚Žใฎๅ†็‡ƒใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้•ทๆœŸ็š„ใซใฏ่†ต่Ž็ธฎใ‚„่†ต็Ÿณใฎไฝต็™บใ‚’ไผดใ„่†ตๅค–ใƒปๅ†…ๅˆ†ๆณŒ้šœๅฎณใซ่‡ณใ‚‹ใ€‚2ๅž‹ใงใฏๅ†็‡ƒไพ‹ใฏๅฐ‘ใชใ„ใ€‚" @ja
dcterms:identifier2200580NANDO:2200943
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_08_108_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_12_036_01.pdf
rdfs:label - "Menkes disease" + "Autoimmune pancreatitis" @en
rdfs:label - "ใƒกใƒณใ‚ฑใ‚น็—…" + "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“" + @ja-Hira
+ rdfs:label + "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3476http://nanbyodata.jp/ontology/NANDO_1200925
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_108/https://www.shouman.jp/disease/details/12_12_036/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100167
- skos:altLabel - "Menkes็—…" - @jahttp://nanbyodata.jp/ontology/NANDO_2100273
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010651http://purl.obolibrary.org/obo/MONDO_0015175
skos:prefLabel - "ใƒกใƒณใ‚ฑใ‚น็—…" + "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" @ja
- - + - - + + - + - + + "ใŸใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - - - - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200581 +
http://nanbyodata.jp/ontology/NANDO_2200944 (rdf:type owl:Class @@ -131974,77 +190693,74 @@

hasNotificationNumber26hasNotificationNumber22
dcterms:description - "ๆœฌ็—‡ๅ€™็พคใฏใƒกใƒณใ‚ฑใ‚น็—…ใฎ่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚่ฒฌไปป่›‹็™ฝใงใ‚ใ‚‹ATP7Aใฎๆดปๆ€งใŒใ‚ใ‚‹็จ‹ๅบฆๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€็—‡็ŠถใŒใƒกใƒณใ‚ฑใ‚น็—…ใ‚ˆใ‚Š่‘—ใ—ใ่ปฝใ„ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎก่›‡่กŒใชใฉใฎ็ตๅˆ็น”็•ฐ็ŠถใŒไธป็—‡็Šถใงใ‚ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚" + "็Ÿญ่…ธ็—‡ใฏๅฐ่…ธใฎๅคง้‡ๅˆ‡้™คใซไผดใ†ๅธๅŽไธ่‰ฏใฎ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐ่…ธใฎ70-80%ใŒๅˆ‡้™คใ™ใ‚‹ใจๅŽณ้‡ใชๆ „้คŠ็ฎก็†ใ‚’่ฆใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใŠใ‘ใ‚‹็Ÿญ่…ธ็—‡ใฎๅŽŸๅ› ใจใ—ใฆใฏๅฃŠๆญปๆ€ง่…ธ็‚Žใ€ไธญ่…ธ่ปธๆป่ปขใ€ๅฐ่…ธ้–‰้Ž–ใชใฉๅ…ˆๅคฉๆ€ง่…ธ็–พๆ‚ฃใ‚„ๅค–ๅ‚ทใŒๅŽŸๅ› ใจใชใ‚‹ใ€‚ไธ‹็—ขใ€ไฝ“้‡ๆธ›ๅฐ‘ใ€่„ฑๆฐดใ€ๆ „้คŠ้šœๅฎณใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ€ๅฐๅ…ใงใฏใ—ใฐใ—ใฐๆˆ้•ท้šœๅฎณใซ้™ฅใ‚‹ใ€‚" @ja
dcterms:identifier2200581NANDO:2200944
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_08_109_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_13_037_01.pdf
rdfs:label - "Occipital horn syndrome" + "Short Bowel Syndrome" @en
rdfs:label - "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3389
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01859 + rdfs:label + "็Ÿญ่…ธ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_109/https://www.shouman.jp/disease/details/12_13_037/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100167http://nanbyodata.jp/ontology/NANDO_2100274
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010572http://purl.obolibrary.org/obo/MONDO_0015183
skos:prefLabel - "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค" + "็Ÿญ่…ธ็—‡" @ja
- - + - - + + - + - + + "ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200582 +
http://nanbyodata.jp/ontology/NANDO_2200945 (rdf:type owl:Class @@ -132052,77 +190768,86 @@

hasNotificationNumber28hasNotificationNumber36
dcterms:description - "ใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ้‰„ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผŽไธญๆžข็ฅž็ตŒ๏ผŒ่‚่‡“๏ผŒ่„พ่‡“ใชใฉใ‚’ไธญๅฟƒใซๅคšๅฒใซใ‚ใŸใ‚‹่‡“ๅ™จใซ้‰„ใŒๆฒˆ็€ใ™ใ‚‹๏ผŽ" + "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10%็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200582NANDO:2200945
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_08_110_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_14_038_01.pdf
rdfs:label - "Aceruloplasminemia" + "Hirschsprung disease" @en
rdfs:label - "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4233 + rdfs:label + "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02206http://nanbyodata.jp/ontology/NANDO_1200903
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_110/https://www.shouman.jp/disease/details/12_14_038/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100167http://nanbyodata.jp/ontology/NANDO_2100275
+ skos:altLabel + "Hirschsprung็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011426http://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡" + "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200583 +
http://nanbyodata.jp/ontology/NANDO_2200946 (rdf:type owl:Class @@ -132130,72 +190855,86 @@

hasNotificationNumber24hasNotificationNumber37
dcterms:description - "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ณๅ†…ใซๆฏ’ๆ€งใฎๅผทใ„ไบœ็กซ้…ธใŒๅคง้‡ใซ่“„็ฉใ—้‡็ฏคใช่„ณ้šœๅฎณใ‚’็คบใ—ใ€่‘—ๆ˜Žใช็ฅž็ตŒ็ดฐ่ƒžใฎ่„ฑ่ฝใ‚„ๅคง่„ณ็™ฝ่ณช่„ฑ้ซ„ใ€ๅคš็™บๆ€งใฎ็ฉบๆดžๆ€ง็—…ๅค‰ใ€ใ‚ฐใƒชใ‚ชใƒผใ‚ทใ‚นใ€็šฎ่ณชๆทฑ้ƒจใฎๆตท็ถฟ็Šถๅค‰ๆ€งใจๅด่„ณๅฎคใฎๆ‹กๅคงใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใ€ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚" + "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinalใ€€Pseudo-ใ€€Obstruction๏ผšCIIP๏ผ‰ใฏใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซใ€่งฃๅ‰–ๅญฆ็š„ใช่…ธ็ฎกใฎ้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›ใ€่…ธ็ฎกๆ‹กๅผตใชใฉใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆPseudo-Obstruction๏ผ‰ใซใฏใ€Hirschsprung็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใฎใ‚ˆใ†ใซๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง(Primary)ใฎใ‚‚ใฎใจ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่† ๅŽŸ็—…ใ€ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃใชใฉใฎๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง (Secondary)ใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸ็™บ็—‡ใฎๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ (Chronic Intestinal Pseudo-Obstruction: CIPO)ใฎๅคšใใฏใ€็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200583NANDO:2200946
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_08_111_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_14_039_01.pdf
rdfs:label - "sulfite oxidase deficiency" + "Chronic idiopathic intestinal pseudo-obstruction" @en
rdfs:label - "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใพใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใŽใ›ใ„ใกใ‚‡ใ†ใธใ„ใใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3072http://nanbyodata.jp/ontology/NANDO_1200458
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_111/https://www.shouman.jp/disease/details/12_14_039/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100167http://nanbyodata.jp/ontology/NANDO_2100275
+ skos:altLabel + "CIIP" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010089http://purl.obolibrary.org/obo/MONDO_0017574
skos:prefLabel - "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200584 +
http://nanbyodata.jp/ontology/NANDO_2200947 (rdf:type owl:Class @@ -132203,72 +190942,91 @@

hasNotificationNumber27hasNotificationNumber34
dcterms:description - "่…ธ็ฎกใ‹ใ‚‰ใฎไบœ้‰›ๅธๅŽ้šœๅฎณใ‚’็—…ๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—‡็Šถใฏ็—…ๅใฎ้€šใ‚Š็šฎ่†š็—‡็ŠถใŒไธญๅฟƒใงใ‚ใ‚‹๏ผŽ" + "ๆœฌ็—‡ใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พคMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผˆไปฅไธ‹MMIHS๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏ็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" @ja
dcterms:identifier2200584NANDO:2200947
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_08_112_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_14_040_01.pdf
rdfs:label - "Acrodermatitis enteropathica" + "Megacystis-microcolon-intestinal hypoperistalsis syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž" + "ใใ‚‡ใ ใ„ใผใ†ใ“ใ†ใŸใ‚“ใ—ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ‚“ใœใ‚“ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1681http://nanbyodata.jp/ontology/NANDO_1200459
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_112/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=953
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_14_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100167http://nanbyodata.jp/ontology/NANDO_2100275
+ skos:altLabel + "MMIHS" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008713http://purl.obolibrary.org/obo/MONDO_0007960
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž" + "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" @ja
- - + - - + + - + - + + "Congenital Isolated Hypoganglionosis" + @en + "ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚“ใ‘ใ„ใ›ใคใ•ใ„ใผใ†ใใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200585 +
http://nanbyodata.jp/ontology/NANDO_2200948 (rdf:type owl:Class @@ -132276,62 +191034,79 @@

hasNotificationNumber30hasNotificationNumber35
dcterms:description - "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ไบœ้‰›ใ‚„้Š…ใชใฉใฎ้‡‘ๅฑž๏ผˆๅพฎ้‡ๅ…ƒ็ด ๏ผ‰ใฎๅธๅŽใ‚„่ปข้€ใซ้–ขใ‚ใ‚‹่›‹็™ฝ่ณชใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใ€่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹107ใ€œ112ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ้‡‘ๅฑžไปฃ่ฌใซ้šœๅฎณใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" @ja
dcterms:identifier2200585NANDO:2200948
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_08_113_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_14_041_01.pdf
rdfs:label - "107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorders of metal metabolism" - @en
+ rdfs:label + "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_08_113/http://nanbyodata.jp/ontology/NANDO_1200460
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_14_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100167http://nanbyodata.jp/ontology/NANDO_2100275
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018309
skos:prefLabel - "107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡" + "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" @ja
- - + - - + + - + - + + "ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…" + @ja-Hira - - + + - + - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200586 +
http://nanbyodata.jp/ontology/NANDO_2200949 (rdf:type owl:Class @@ -132339,105 +191114,95 @@

hasNotificationNumber80hasNotificationNumber5
dcterms:description - "ใƒ—ใƒชใƒณใ‚ตใƒซใƒ™ใƒผใ‚ธ้…ต็ด ใงใ‚ใ‚‹ใ€ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณ-ใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆHPRT๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซใปใผๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒ—ใƒชใƒณไฝ“ใฎๅˆๆˆใŒไธŠๆ˜‡ใ—ใ€้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™ใปใ‹ใ€ไธ้šๆ„้‹ๅ‹•ใ€็ญ‹็กฌ็›ดใ€็ฒพ็ฅž้…ๆปžใ€็‰นๆœ‰ใฎ่‡ชๅ’ฌ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹X้€ฃ้Ž–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใงใ€ใพใ‚Œใซๅฅณๅ…ใฎ็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€่ฟ‘ๅนดใฎๅ›ฝ้š›ๅˆ†้กž๏ผˆInternational Society for the Study of Vascular Anomalies (ISSVA)ๅˆ†้กž๏ผ‰ใงใฏใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใŒ็„ก็—‡็Šถใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงๆญปใซ่‡ณใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็„ก็—‡็Šถใฎๅฐใ•ใช่‚่ก€็ฎก่…ซใจใฏ็•ฐใชใ‚‹็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚Œใ€ๆฌก็ฌฌใซๆ”ฏๆŒใ‚’้›†ใ‚ใคใคใ‚ใ‚‹ใ€‚ๅฎŸ้š›ใซใฏใ“ใฎใ‚ˆใ†ใช้‡็ฏคใช็ตŒ้Žใ‚’ใจใ‚‹้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ้ ปๅบฆใฏ็จ€ใงใ€ๅนณๆˆ22ๅนดๅบฆใ‚ˆใ‚ŠๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ็ ”็ฉถ็ญใŒ็ต„็น”ใ•ใ‚Œใ€ๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšใฎ่ชๅฎšๆ–ฝ่จญใ‚’ๅฏพ่ฑกใซใ“ใ‚Œใพใงใซไฝ•ๅ›žใ‹ใฎ่ชฟๆŸปใŒ่กŒใ‚ใ‚Œใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฎ่‡จๅบŠ็—‡็Šถใ‚„ๆˆ‘ใŒๅ›ฝใฎๆฒป็™‚ๅฎŸๆ…‹ใŒ่ชฟในใ‚‰ใ‚ŒใŸใ€‚ใ“ใ‚Œใพใงใฎ่ชฟๆŸป็ตๆžœใงใฏ่‚ๅ†…ใซๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่ก€็ฎก่…ซใฎใ‚ใ‚‹ใ‚‚ใฎใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ใ“ใ†ใ—ใŸ็”ปๅƒๆ‰€่ฆ‹ใซๅŠ ใˆใฆๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใชใฉใฎ็—‡็Šถใฎใ‚ใ‚‹ใ‚‚ใฎใ‚’ๆ–ฐ็”Ÿๅ…ใƒปไนณๅนผๅ…ใฎใ€Œ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ€ใจ่จบๆ–ญใ—ใฆใ€ๅฑๆ€ฅ็š„ใช็—…ๆ…‹ใซๆณจๆ„ใ™ใ‚‹ใ‚ˆใ†ใซ่ญฆ้˜ใŒใชใ‚‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200586NANDO:2200949
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_09_114_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_15_042_01.pdf
rdfs:label - "Lesch-Nyhan syndrome" + "Giant hepatic hemangiomas" @en
rdfs:label - "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3289 + rdfs:label + "่‚ๅทจๅคง่ก€็ฎก่…ซ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_114/https://www.shouman.jp/disease/details/12_15_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100168
- skos:altLabel - "HPRT" - @enhttp://nanbyodata.jp/ontology/NANDO_2100276
skos:altLabel - "Hypoxanthine-guanine phosphoribosyltransferase " + "Critical infantile hepatic haemangioma" @en
skos:altLabel - "Hypoxanthine-guanine phosphoribosyltransferaseใ€€deficiency" + "Giant hepatic haemangiomas" @en
skos:altLabel - "ใƒฌใƒƒใ‚ทใƒฅใƒปใƒŠใ‚คใƒใƒณ็—‡ๅ€™็พค" + "ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010298
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016088http://purl.obolibrary.org/obo/MONDO_0002404
skos:prefLabel - "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "่‚ๅทจๅคง่ก€็ฎก่…ซ" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200587 +
http://nanbyodata.jp/ontology/NANDO_2200950 (rdf:type owl:Class @@ -132445,77 +191210,84 @@

hasNotificationNumber76hasNotificationNumber20
dcterms:description - "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(APRT)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚APRTใฏใ€ใ‚ขใƒ‡ใƒ‹ใƒณใจใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒ”ใƒญใƒชใƒณ้…ธใ‚ˆใ‚Šใƒ”ใƒญใƒชใƒณ้…ธใจAMPใ‚’ๅˆๆˆใ™ใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€‚APRTใŒๆฌ ๆใ™ใ‚‹ใจใ€ใ‚ขใƒ‡ใƒ‹ใƒณใฏใ‚ญใ‚ตใƒณใƒใƒณ้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ใซใ‚ˆใ‚Š่‘—ใ—ใๆบถ่งฃๅบฆใŒไฝŽใ่…Žๆฏ’ๆ€งใŒๅผทใ„2,8-ใ‚ธใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใƒ‡ใƒ‹ใƒณ(DHA)ใซใพใงไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚APRTๆฌ ๆ็—‡ใงใฏใ€2,8-DHAใ‚’ๆˆๅˆ†ใจใ™ใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹(ๅ…จๅฐฟ่ทฏ็ต็Ÿณ็—‡ใฎ0.1๏ฝž0.2๏ผ…)ใ€‚ไนณๅนผๅ…ๆœŸใ‚„ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‹ใ‚‰่…Žไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใพใง็—‡็Šถใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚" + "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่†ฃใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ6้€ฑใซ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่†ฃใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่†ฃๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200587NANDO:2200950
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_09_115_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_16_043_01.pdf
rdfs:label - "Adenine phosphoribosyltransferase deficiency" + "persistent cloaca" @en
rdfs:label - "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“" + @ja-Hira
+ rdfs:label + "็ทๆŽ’ๆณ„่…”้บๆฎ‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8178http://nanbyodata.jp/ontology/NANDO_1200910
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00195http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2761
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_115/https://www.shouman.jp/disease/details/12_16_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100168http://nanbyodata.jp/ontology/NANDO_2100277
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013869http://purl.obolibrary.org/obo/MONDO_0009774
skos:prefLabel - "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "็ทๆŽ’ๆณ„่…”้บๆฎ‹" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200588 +
http://nanbyodata.jp/ontology/NANDO_2200951 (rdf:type owl:Class @@ -132523,77 +191295,84 @@

hasNotificationNumber78hasNotificationNumber21
dcterms:description - "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ใ‚ญใ‚ตใƒณใƒใƒณใ€ใŠใ‚ˆใณใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ๅฐฟ้…ธใธใฎไปฃ่ฌใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ญใ‚ตใƒณใƒใƒณ่„ฑๆฐด็ด ้…ต็ด ๏ผˆXDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ๅฐฟ้…ธ้…ธๆ€งไฝŽไธ‹ใ‹ใ‚‰ใฎไฝŽๅฐฟ้…ธ่ก€็—‡ใ€ๆ™‚ใจใ—ใฆใ‚ญใ‚ตใƒณใƒใƒณ็ต็Ÿณใซใ‚ˆใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚XDHๅ˜็‹ฌๆฌ ๆใฎใ‚ฟใ‚คใƒ—Iใ€ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๏ผˆMoCo๏ผ‰ใฎ็กซ้ป„ไป˜ๅŠ ใฎ้…ต็ด ใงใ‚ใ‚‹MoCo็กซๅŒ–้…ต็ด ๏ผˆMOCOS๏ผ‰ใซใ‚ˆใ‚Šใ€ใใ‚Œใ‚’ๅŸบ่ณชใจใ™ใ‚‹XDHใŠใ‚ˆใณใ‚ขใƒซใƒ‡ใƒ’ใƒ‰้…ธๅŒ–้…ต็ด ๏ผˆAO๏ผ‰ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—IIใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใจใ‚‚ใซๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใŒใ€ๅฐฟ่ทฏ็ต็Ÿณไปฅๅค–ใฎ็—‡็Šถใฏ็‰นใซ่ฆ‹ใ‚‰ใ‚ŒใšไบˆๅพŒ่‰ฏๅฅฝใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡๏ผˆไปฅไธ‹ๆœฌ็—‡๏ผ‰ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏ็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่†ฃๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200588NANDO:2200951
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_09_116_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_16_044_01.pdf
rdfs:label - "Xanthinuria" + "Cloacal exstrophy" @en
rdfs:label - "ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡" + "ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00192http://nanbyodata.jp/ontology/NANDO_1200909
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_116/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2761
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100168 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_16_044/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000721 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100278
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018106http://purl.obolibrary.org/obo/MONDO_0009774
skos:prefLabel - "ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡" + "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200589 +
http://nanbyodata.jp/ontology/NANDO_2200952 (rdf:type owl:Class @@ -132601,62 +191380,91 @@

hasNotificationNumber79hasNotificationNumber15
dcterms:description - "ๅฐฟ้…ธใฏใƒ’ใƒˆใงใฎใƒ—ใƒชใƒณไฝ“ไปฃ่ฌใฎๆœ€็ต‚็”ฃ็‰ฉใงใ‚ใ‚Šใ€ไฝ“ๅ†…ใฎๅฐฟ้…ธ้‡ใฏใ€ๅฐฟ้…ธใฎ็”ฃ็”ŸใจๆŽ’ๆณ„ใฎใƒใƒฉใƒณใ‚นใซใ‚ˆใ‚Š่ฆๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธใฏใ€ๅฐฟ้…ธใฎไฝ“ๅค–ใธใฎๆŽ’ๆณ„ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ๅˆ†ๅญใงใ‚ใ‚‹ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ก€ไธญใƒปๅฐฟไธญใฎๅฐฟ้…ธๆฟƒๅบฆ็•ฐๅธธใ‚’ใใŸใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅฐฟ้…ธใฎๅ†ๅธๅŽใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆURAT1ใ€URATv1/GLUT9๏ผ‰ใฎ็•ฐๅธธ๏ผˆ่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™๏ผ‰ใจใ€ๅฐฟ้…ธใฎๅˆ†ๆณŒใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆNPT4ใ€ABCG2/BCRP๏ผ‰ใฎ็•ฐๅธธ๏ผˆ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹๏ผ‰ใŒใจใ‚‚ใซ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใฎ็ด„10%ใŒๅฐฟ้…ธ็ต็Ÿณใ‚„้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใ‚’ๅ‘ˆใ—ใ€้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใฎ20~30%ใฏๅ†็™บใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฏๅฐฟ้…ธ็ต็Ÿณใ‚„็—›้ขจใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚" + "X้€ฃ้Ž–ๆ€งใฎ็Ÿฅ็š„้šœๅฎณใฎไธญใงใฏๆฏ”่ผƒ็š„้ ปๅบฆใŒ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹" @ja
dcterms:identifier2200589NANDO:2200952
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_09_117_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_001_01.pdf
rdfs:label - "Genetic defects in urate transporters" + "Coffin-Lowry syndrome" @en
rdfs:label - "ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡" + "ใ“ใตใƒใ‚“ใƒปใ‚ใƒผใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_117/http://nanbyodata.jp/ontology/NANDO_1200660
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3376
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100168http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Coffin-Lowry็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010561
skos:prefLabel - "ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡" + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใใจใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200590 +
http://nanbyodata.jp/ontology/NANDO_2200953 (rdf:type owl:Class @@ -132664,77 +191472,86 @@

hasNotificationNumber77hasNotificationNumber22
dcterms:description - "ใƒ”ใƒชใƒŸใ‚ธใƒณๅˆๆˆ็ณปใซใ‘ใ‚‹ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ‚ชใƒญใƒƒใƒˆ้…ธใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใจใ‚ชใƒญใƒใ‚ธใƒณ๏ผ•โ€ฒ-ใƒชใƒณ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ใฎไธกๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๅฐฟไธญใ‚ชใƒญใƒˆ้…ธใฎๅข—ๅŠ ใ€ๅฐฟไธญใ‚ชใƒญใƒใ‚ธใƒณใฎๅข—ๅŠ ใ€ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธใฎ็”ฃ็”ŸไฝŽไธ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹1)ใ€‚" + "NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅผฏใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" @ja
dcterms:identifier2200590NANDO:2200953
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_09_118_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_002_01.pdf
rdfs:label - "Orotic aciduria" + "Sotos syndrome" @en
rdfs:label - "ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2784 + rdfs:label + "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00198http://nanbyodata.jp/ontology/NANDO_1200679
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_118/https://www.shouman.jp/disease/details/13_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100168http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Sotos็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009797http://purl.obolibrary.org/obo/MONDO_0019349
skos:prefLabel - "ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡" + "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "Smith-Magenis syndrome" + @en + "ใ™ใฟใ™ใƒปใพใŽใซใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200591 +
http://nanbyodata.jp/ontology/NANDO_2200954 (rdf:type owl:Class @@ -132742,62 +191559,91 @@

hasNotificationNumber81hasNotificationNumber20
dcterms:description - "DNAใ‚„RNAใฎๆง‹ๆˆ็‰ฉ่ณชใงใ‚ใ‚‹ใƒ—ใƒชใƒณไฝ“ใจใƒ”ใƒชใƒŸใ‚ธใƒณไฝ“ใฎๅˆๆˆใ‚„่งฃใซใฏใ€็จฎใ€…ใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใŠใ‚Šใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ ธ้…ธไปฃ่ฌใ‚„ใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใจๅฏ†ๆŽฅใซ้–ข้€ฃใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใฃใฆใ€้šœๅฎณใ•ใ‚ŒใŸ้…ต็ด ใซใ‚ˆใฃใฆ็—‡็Šถใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹114ใ€œ118ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "17p11.2ใฎๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็Ÿญใ„ๆŒ‡ใ€ไธญๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„ใช่กŒๅ‹•็‰นๆ€งใ€็ก็œ ้šœๅฎณใ‚’็คบใ™ใ€‚17p11.2ใซไฝ็ฝฎใ™ใ‚‹RAI1้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จใŒไธปใŸใ‚‹ๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200591NANDO:2200954
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_09_119_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_003_01.pdf
rdfs:label - "114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorders of purine and pyrimidine metabolism" - @en
+ rdfs:label + "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_09_119/http://nanbyodata.jp/ontology/NANDO_1200687
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1412
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100168http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Smith-Magenis็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008434
skos:prefLabel - "114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200592 +
http://nanbyodata.jp/ontology/NANDO_2200955 (rdf:type owl:Class @@ -132805,72 +191651,86 @@

hasNotificationNumber74hasNotificationNumber33
dcterms:description - "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡(HFM)ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹PCFT (proton-coupled folate transporter)ใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + "RubinsteinใจTaybi(1963ๅนด)ใŒโ€œBroad thumbs and toes and facial abnormalitiesโ€œใจ้กŒใ—ใฆใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œ๏ผŒ็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค7็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œ, Rubinstein-Taybi็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" @ja
dcterms:identifier2200592NANDO:2200955
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_10_120_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_004_01.pdf
rdfs:label - "Hereditary folate malabsorption" + "Rubinstein-Taybi syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡" + "ใ‚‹ใณใ‚“ใ—ใ‚…ใŸใ„ใ‚“ใƒปใฆใ„ใณใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2227http://nanbyodata.jp/ontology/NANDO_1200461
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_10_120/https://www.shouman.jp/disease/details/13_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100169http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Rubinstein-Taybi็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009238http://purl.obolibrary.org/obo/MONDO_0019188
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡" + "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "Kabuki syndrome" + @en + "ใ‹ใถใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200593 +
http://nanbyodata.jp/ontology/NANDO_2200956 (rdf:type owl:Class @@ -132878,62 +191738,79 @@

hasNotificationNumber75hasNotificationNumber11
dcterms:description - "้บไผ็š„ใช็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใฆใ€่…ธ็ฎกใ‹ใ‚‰ใฎใƒ“ใ‚ฟใƒŸใƒณ้กžใฎๅธๅŽไธๅ…จใ‚„่ปข้€้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹120ใฎๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "ๆŽจๅฎš้ ปๅบฆใ‹ใ‚‰็ฎ—ๅ‡บใ—ใŸๆŽจ่จˆ็ฝนๆ‚ฃ่€…ใฏ็ด„ 4,000ไบบ" @ja
dcterms:identifier2200593NANDO:2200956
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_10_121_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_005_01.pdf
rdfs:label - "120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorders of vitamin metabolism" - @en
+ rdfs:label + "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_10_121/http://nanbyodata.jp/ontology/NANDO_1200672
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100169http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016512
skos:prefLabel - "120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200594 +
http://nanbyodata.jp/ontology/NANDO_2200957 (rdf:type owl:Class @@ -132941,62 +191818,91 @@

hasNotificationNumber54hasNotificationNumber9
dcterms:description - "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€3็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธใ€”ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ€ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆTrp๏ผ‰ใ€•ๆฐด้…ธๅŒ–้…ต็ด ใซๅ…ฑ้€šใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชไปฃ่ฌ็•ฐๅธธใซใ‚ˆใ‚ŠBH4ใฎๆฌ ไนใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹1๏ผ‰ใ€‚ไธ€่ˆฌใซใฏ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆ้ซ˜Phe่ก€็—‡๏ผ‰ใ‚’ไผดใ†ใ‚‚ใฎใ‚’ใ•ใ—ใฆใ„ใ†ใŒใ€ๅบƒ็พฉใซใฏ้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚‚ๅซใพใ‚Œใ‚‹๏ผ’๏ผ‰ใ€‚ๅ‰่€…ใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใจ็•ฐใชใ‚Šใ€ไฝŽใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ้ฃŸใซใ‚ˆใ‚‹่ก€ๆธ…Pheๅ€คใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€้‡็—‡ใง้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็—‡็ŠถใŒ็™บ็—‡ใ™ใ‚‹ใŒใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ—ใ€็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๅพŒ่€…ใฏ็€ฌๅท็—…ใจใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใง้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ—ใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใŸใ‚ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" + "1981ๅนดใซๆˆ‘ใŒๅ›ฝใ‹ใ‚‰็™บไฟกใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผˆๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000๏ผ‰ใ€‚ใปใจใ‚“ใฉใŒๅผง็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใๅฐ‘ๆ•ฐใ€‚" @ja
dcterms:identifier2200594NANDO:2200957
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_11_122_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_006_01.pdf
rdfs:label - "Tetrahydrobiopterin deficiency" + "Weaver syndrome" @en
rdfs:label - "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ†ใƒใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_122/http://nanbyodata.jp/ontology/NANDO_1200659
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3180
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100170http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Weaver็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010193
skos:prefLabel - "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200595 +
http://nanbyodata.jp/ontology/NANDO_2200958 (rdf:type owl:Class @@ -133004,67 +191910,86 @@

hasNotificationNumber52hasNotificationNumber16
dcterms:description - "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆTH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใ‚’L-ใƒ‰ใƒผใƒ‘ใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใชใฉใฎใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณใฎๅ…จ่ˆฌใฎๅˆๆˆใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚่„ณๅ†…ใงใฏ้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใŒ็™บ็—‡ใ—ใ€L-DOPAใซๅๅฟœใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใŒใ€้€ฒ่กŒๆ€งใฎ่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒไธปไฝ“ใ‚’ๅ ใ‚ใ‚‹ใ€‚" + "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๆฟƒใ„็œ‰ๆฏ›ใ€ไธกๅด็œ‰็™’ๅˆใ€้•ทใใ‚ซใƒผใƒซใ—ใŸ็ซๆฏ›ใ€ไธŠๅ‘ใใฎ้ผปๅญ”ใ€่–„ใ„ไธŠๅฃๅ”‡ใ€้•ทใ„ไบบไธญใชใฉ๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚" @ja
dcterms:identifier2200595NANDO:2200958
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_11_123_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_007_01.pdf
rdfs:label - "Tyrosine hydroxylase deficiency" + "Cornelia de Lange syndrome" @en
rdfs:label - "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใ“ใ‚‹ใญใ‚Šใ‚ใƒปใงใ‚‰ใ‚“ใ’ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_123/http://nanbyodata.jp/ontology/NANDO_1200960
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100170http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Cornelia de Lange็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100064http://purl.obolibrary.org/obo/MONDO_0016033
skos:prefLabel - "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200596 +
http://nanbyodata.jp/ontology/NANDO_2200959 (rdf:type owl:Class @@ -133072,72 +191997,91 @@

hasNotificationNumber55hasNotificationNumber28
dcterms:description - "AADCๆฌ ๆ็—‡ใฏ๏ผฌ-ใƒ‰ใƒผใƒ‘ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณ๏ผˆ5HT๏ผ‰ใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ้บไผๅญ๏ผˆDDC๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1990ๅนดใ‚คใ‚ฎใƒชใ‚นใฎHylandใ‚‰ใซใ‚ˆใฃใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ1๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžใŠใ‚ˆใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎHVAใŠใ‚ˆใณ๏ผ•HIAAใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎใชใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚" + "BWSใฏใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ข(Exomphalos), ๅทจ่ˆŒ(Macroglossia), ๅทจไฝ“(Giantism)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’ๅˆใ‚ใ›ใฆEMG็—‡ๅ€™็พคใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚็ด„15๏ผ…ใฎ็—‡ไพ‹ใงWilms่…ซ็˜ใ€่‚่Šฝ็จฎใ€ๆจช็ด‹็ญ‹่‚‰่…ซใชใฉ่ƒŽๅ…ๆ€ง่…ซ็˜ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚Sotos็—‡ๅ€™็พค็ญ‰ใฎ้Žๆˆ้•ทใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆ" @ja
dcterms:identifier2200596NANDO:2200959
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_11_124_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_008_01.pdf
rdfs:label - "Aromatic L-amino acid decarboxylase deficiency" + "Beckwith-Wiedemann syndrome" @en
rdfs:label - "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" + "ในใฃใใ†ใƒใšใƒปใณใƒผใงใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6353http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=525
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_124/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00713
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100170http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Beckwith-Wiedemann็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012084http://purl.obolibrary.org/obo/MONDO_0007534
skos:prefLabel - "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡" + "ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200597 +
http://nanbyodata.jp/ontology/NANDO_2200960 (rdf:type owl:Class @@ -133145,72 +192089,91 @@

hasNotificationNumber53hasNotificationNumber1
dcterms:description - "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒๆฐด้…ธๅŒ–้…ต็ด ๏ผˆDBH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ‚’ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ไบคๆ„Ÿ็ฅž็ตŒNAไฝœๅ‹•ๆ€งๆฉŸ่ƒฝใฎๆฌ ๅฆ‚ใซใ‚ˆใ‚Š่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹้žๅธธใซใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซๅฟƒ่ก€็ฎก็–พๆ‚ฃใ€้‡ๅบฆใฎ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎ็•ฐๅธธใฏๅ‘จ็”ฃๆœŸใ‹ใ‚‰ๅง‹ใพใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใงใฏNAใ€ใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใฎไธก่€…ใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ไฝŽไฝ“ๆธฉใ€ไฝŽ่ก€ๅœงใ€ไฝŽ่ก€็ณ–ใชใฉ่ค‡้›‘ใช่‡ช็ซ‹็ฅž็ตŒ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚" + "้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ‚ใ‚Šใ€ๆ—ฅๆœฌใซใฏ3000ๅไปฅไธŠใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200597NANDO:2200960
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_11_125_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_009_01.pdf
rdfs:label - "Dopamine beta hydroxylase deficiency" + "Angelman syndrome" @en
rdfs:label - "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ใ‚“ใ˜ใ‡ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2108http://nanbyodata.jp/ontology/NANDO_1200686
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_125/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=88
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100170http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Angelman็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009123http://purl.obolibrary.org/obo/MONDO_0007113
skos:prefLabel - "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" + "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + + "5ใดใƒผใพใ„ใชใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200598 +
http://nanbyodata.jp/ontology/NANDO_2200961 (rdf:type owl:Class @@ -133218,62 +192181,93 @@

hasNotificationNumber50hasNotificationNumber2
dcterms:description - "่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎไปฃ่ฌใซใ‹ใ‹ใ‚ใ‚‹GABAใƒˆใƒฉใƒณใ‚นใ‚ขใƒŸใƒŠใƒผใ‚ผ๏ผˆGABAT๏ผ‰ใฎๆฌ ๆ็—‡ใฏใ€้‡็—‡ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใจ็™บ้”้…ๅปถใ‚’่ชใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใใ‚ใ‚ใฆใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ใ‚ใŒๅ›ฝใฎ๏ผ‘ไพ‹ใ‚’ๅซใ‚€ไธ–็•Œใง๏ผ“ๅฎถ็ณป4ไพ‹ใ—ใ‹ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚" + "5p-็—‡ๅ€™็พคใฏ5็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ1ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ1ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹" @ja
dcterms:identifier2200598NANDO:2200961
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_11_126_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_010_01.pdf
rdfs:label - "GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡" + "5p- syndrome" + @en
+ rdfs:label + "5p-็—‡ๅ€™็พค" @ja
rdfs:label - "Gamma-amino butyrate aminotransferase deficiency" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_126/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=373
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100170http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "5p deletion syndrome" + @en
+ skos:altLabel + "5pๆฌ ๅคฑ็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007404
skos:prefLabel - "GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡" + "5p-็—‡ๅ€™็พค" @ja
- - + - - + + - + - + - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200599 +
http://nanbyodata.jp/ontology/NANDO_2200962 (rdf:type owl:Class @@ -133281,77 +192275,93 @@

hasNotificationNumber51hasNotificationNumber6
dcterms:description - "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๏ผˆSSADH๏ผ‰ๆฌ ๆ็—‡ใฏ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ไผดใ†ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚SSADHใฎๆฌ ๆใงGABAใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰๏ผˆSSA๏ผ‰ใŒใ‚ณใƒใ‚ฏ้…ธใซๅค‰ๆ›ใ•ใ‚Œใชใ„ใŸใ‚ใ€SSAใฎๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚‹ใŒใ€SSAใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท้…ช้…ธ๏ผˆGHB๏ผ‰ใซไปฃ่ฌใ•ใ‚ŒๅฐฟไธญใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใŸใ‚GHBๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚GHBๅฐฟ็—‡ใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ž็‰น็•ฐ็š„ใช็ฅž็ตŒ็—‡็ŠถใŒๅคšใ„ใŸใ‚ใ€ๅฎŸ้š›ใซใฏๆญฃ็ขบใช่จบๆ–ญใ‚’ๅ—ใ‘ใฆใ„ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" + "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ไธปๅพดใจใ™ใ‚‹" @ja
dcterms:identifier2200599NANDO:2200962
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_11_127_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_011_01.pdf
rdfs:label - "Succinic semialdehyde dehydrogenase deficiency" + "4p- Syndrome" @en
rdfs:label - "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "4p็—‡ๅ€™็พค" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3066 + rdfs:label + "4ใดใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00835http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1654
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_127/https://www.shouman.jp/disease/details/13_01_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100170http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "4p deletion syndrome" + @en
+ skos:altLabel + "4pๆฌ ๅคฑ็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010083http://purl.obolibrary.org/obo/MONDO_0008684
skos:prefLabel - "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + "4p็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200600 +
http://nanbyodata.jp/ontology/NANDO_2200963 (rdf:type owl:Class @@ -133359,62 +192369,95 @@

hasNotificationNumber56hasNotificationNumber4
dcterms:description - "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ใฏใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็”Ÿๅˆๆˆใƒปไปฃ่ฌใƒป็•ฐๅŒ–ใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใ‹ใ‚‰ไนณๅนผๅ…ๆœŸใฎใ€็ฅž็ตŒ็ดฐ่ƒžใŒๅˆ†ๅŒ–ใ—ใฆใƒใƒƒใƒˆใƒฏใƒผใ‚ฏใ‚’ๅฝขๆˆใ—ใฆใ„ใๆ™‚ๆœŸใซ็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ€็ฅž็ตŒ็™บ้”ใซ้‡ๅคงใช็•ฐๅธธใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹122ใ€œ127ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎไปฃ่ฌใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ฅž็ตŒ็™บ้”ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€18็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…3,500๏ฝž8,500ไบบใซ1ไบบใฎ้ ปๅบฆใง่ฆ‹ใ‚‰ใ‚Œใ€ๅฅณๅ…ใซๅคšใ„๏ผˆ็”ท๏ผšๅฅณ๏ผ๏ผ‘๏ผš๏ผ“๏ผ‰ใ€‚" @ja
dcterms:identifier2200600NANDO:2200963
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_11_128_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_012_01.pdf
rdfs:label - "122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" + "18ใจใ‚Šใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" @ja
rdfs:label - "Other disorder of neurotransmitter metabolism and transport" + "Trisomy 18" @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_11_128/https://www.shouman.jp/disease/details/13_01_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100170http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "18 trisomy syndrome" + @en
+ skos:altLabel + "Chromosome 18 duplication" + @en
+ skos:altLabel + "Edwards syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018071
skos:prefLabel - "122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡" + "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "13ใจใ‚Šใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200601 +
http://nanbyodata.jp/ontology/NANDO_2200964 (rdf:type owl:Class @@ -133422,67 +192465,88 @@

hasNotificationNumber36hasNotificationNumber3
dcterms:description - "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎ็•ฐๅŒ–้šœๅฎณใซใ‚ˆใ‚Š้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰๏ผˆTG๏ผ‰่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็šฎ่†š็™บ็–นๆ€ง้ป„่‰ฒ่…ซใ‚„ๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผฃIIๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€งVๅž‹้ซ˜่„‚่ก€็—‡ใ€ใใฎไป–ใฎ้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŒ๏ผ’๏ผ‰" + "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€13็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…ใฎ5,000๏ฝž12,000ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200601NANDO:2200964
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_12_129_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_013_01.pdf
rdfs:label - "Primary hyperchylomicronaemia" - @en
rdfs:label - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" + "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01784 + rdfs:label + "Trisomy 13" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_129/https://www.shouman.jp/disease/details/13_01_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100171http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "13 trisomy syndrome" + @en
+ skos:altLabel + "Patau syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018068
skos:prefLabel - "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡" + "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200602 +
http://nanbyodata.jp/ontology/NANDO_2200965 (rdf:type owl:Class @@ -133490,67 +192554,98 @@

hasNotificationNumber34hasNotificationNumber5
dcterms:description - "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆFH๏ผ‰ใฏใ€ไฝŽๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆLDL๏ผ‰ๅ—ๅฎนไฝ“ใพใŸใฏ้–ข้€ฃใ™ใ‚‹้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚FHใงใฏLDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่ก€ไธญใƒฌใƒ™ใƒซใŒใใ‚ใ‚ใฆ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ๅ‹•่„ˆ็กฌๅŒ–ใฎ้žๅธธใซ้ซ˜ใ„ใƒชใ‚นใ‚ฏใจใชใ‚‹ใ€‚่‹ฅๅนดใง็‹ญๅฟƒ็—‡ใ‚„ๅฟƒ็ญ‹ๆข—ๅกžใ‚’็™บ็—‡ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚" + "1866ๅนด Downใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ่จ˜่ฟฐใ•ใ‚ŒใŸใ€‚1959ๅนดLejeuneใ‚‰ใซใ‚ˆใ‚Šใ€ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พคใงใฏๆŸ“่‰ฒไฝ“ใŒ47ๆœฌใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€้Žๅ‰ฐๆŸ“่‰ฒไฝ“ใŒ21็•ชๆŸ“่‰ฒไฝ“ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็œผ็žผ่ฃ‚ๆ–œไธŠใƒป้ผปๆ น้ƒจๅนณๅฆใƒปๅ†…็œผ่ง’่ด…็šฎใƒป่ˆŒใฎ็ชๅ‡บ๏ผ‰ใ€ๆ‰‹ๆŽŒๅ˜ไธ€ๅฑˆๆ›ฒ็ทšใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“ๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใ™ใ‚‹" @ja
dcterms:identifier2200602NANDO:2200965
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_12_130_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_014_01.pdf
rdfs:label - "Familial hypercholesterolaemia" + "Down syndrome" @en
rdfs:label - "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" + "ใ ใ†ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00155http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1582
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_130/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01552
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100171http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Down็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "trisomy 21" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008608
skos:prefLabel - "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡" + "ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "9ใ‹ใ‚‰14ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ„ใ˜ใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200603 +
http://nanbyodata.jp/ontology/NANDO_2200966 (rdf:type owl:Class @@ -133558,67 +192653,76 @@

hasNotificationNumber35hasNotificationNumber7
dcterms:description - "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡๏ผˆFCHL๏ผ‰ใฏใ€่ก€ไธญ็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆTC๏ผ‰ใจTGใฎไธกๆ–นใŒ้ซ˜ๅ€คใจใชใ‚‹็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใจใ•ใ‚Œใฆใ„ใ‚‹ใŒ่ค‡ๆ•ฐใฎ้บไผๅญ็•ฐๅธธใŒใ‹ใ‹ใ‚ใฃใฆใ„ใ‚‹ใ€‚่‹ฅๅนดใงใฎๅฟƒ็ญ‹ๆข—ๅกžใฎ็™บ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€65ๆญณไปฅไธ‹ใฎๅฟƒ็ญ‹ๆข—ๅกžๆ‚ฃ่€…ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆ30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹๏ผ‘๏ผŒ๏ผ’๏ผ‰ใ€‚" + "ๅธธๆŸ“่‰ฒไฝ“๏ผˆ1๏ฝž22็•ชๆŸ“่‰ฒไฝ“๏ผ‰ใฎๆ•ฐ็š„็•ฐๅธธใƒปๆง‹้€ ็•ฐๅธธใ‚‚ใ—ใใฏใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹้ƒจไฝใฎๅคงใใ•ใ‚„้‡่ค‡ใ‚‚ใ—ใใฏๆฌ ๅคฑใชใฉ็•ฐๅธธใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€็—‡็Šถใฎ็จ‹ๅบฆใฏ็•ฐใชใ‚‹ใ€‚" @ja
dcterms:identifier2200603NANDO:2200966
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_12_131_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_015_01.pdf
rdfs:label - "Familial combined hyperlipidaemia" - @en
rdfs:label - "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡" + "9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00153 + rdfs:label + "Other Chromosomal abnormalities" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_131/https://www.shouman.jp/disease/details/13_01_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100171http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Autosome" + @en
skos:prefLabel - "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡" + "9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200604 +
http://nanbyodata.jp/ontology/NANDO_2200967 (rdf:type owl:Class @@ -133626,72 +192730,100 @@

hasNotificationNumber38hasNotificationNumber17
dcterms:description - "ใƒชใƒ่›‹็™ฝ็ฒ’ๅญๅฝขๆˆใซ้–ขไธŽใ™ใ‚‹ใƒŸใ‚ฏใƒญใ‚ฝใƒผใƒ ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ปข้€่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่…ธใงๅธๅŽใ•ใ‚ŒใŸ้ฃŸไบ‹ๆ€ง่„‚่‚ชใฏใƒชใƒ่›‹็™ฝใจใ—ใฆ่ปข้€ใ•ใ‚Œใšใซ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใ€่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚‹ไธ‹็—ขใ€่„‚่‚ชไพฟใจใชใ‚Š่…น็—›ใ€ๆˆ้•ท้šœๅฎณใชใฉใ‚’ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹็ฅž็ตŒ็—‡็Šถใ€็™บ้”้…ๆปžใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸ่„‚่‚ชใ‚‚ๅ…จ่บซใซ่ปข้€ใ•ใ‚Œใ‚‹ใ“ใจใชใ่„‚่‚ช่‚ใจใชใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚" + "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" @ja
dcterms:identifier2200604NANDO:2200967
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_12_132_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_016_01.pdf
rdfs:label - "Abetalipoproteinemia" + "CFC Syndrome" @en
rdfs:label - "็„กฮฒ-ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" + "CFC็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใ—ใƒผใˆใตใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1660http://nanbyodata.jp/ontology/NANDO_1200462
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_132/https://www.shouman.jp/disease/details/13_01_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100171http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Cardio-facio-cutaneuos syndrome" + @en
+ skos:altLabel + "cardio-facio-cutaneous็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ๅฟƒ่‡“ใƒป้ก”ใƒป็šฎ่†š็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008692http://purl.obolibrary.org/obo/MONDO_0015280
skos:prefLabel - "็„กฮฒ-ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡" + "CFC็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200605 +
http://nanbyodata.jp/ontology/NANDO_2200968 (rdf:type owl:Class @@ -133699,69 +192831,96 @@

hasNotificationNumber37hasNotificationNumber29
dcterms:description - "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆHDL๏ผ‰ใŒๆฌ ๆใพใŸใฏไฝŽไธ‹ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ใ“ใ“ใงใฏใ€ๅŽŸ็™บๆ€ง๏ผˆ้บไผๆ€ง๏ผ‰ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆHDL-C๏ผ‰ใฎไฝŽไธ‹ใซใฏใ€HDLใฎ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ๅ ดๅˆใ€ๆˆ็†ŸใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ ดๅˆใ€็•ฐๅŒ–ใŒๆ›ดๆ–ฐใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚็พๅœจใ€ไปฅไธ‹ใฎ็–พๆ‚ฃใŒไธป่ฆใชใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚้ ปๅบฆใฏๅธŒใงใ‚ใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚๏ผ‘๏ผŽlecithin-cholesterol acyltransferase๏ผˆLCAT๏ผ‰ๆฌ ๆ็—‡๏ผ“๏ผ‰ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใชLCATใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ๅฎถๆ—ๆ€งLCATๆฌ ๆ็—‡ใจ้ญš็œผ็—…ใฎ็•ฐใชใ‚‹่กจ็พๅž‹ใ‚’ๅ‘ˆใ™ใ‚‹๏ผˆLCATๆดปๆ€งใฎๅทฎใซใ‚ˆใ‚‹๏ผ‰ใ€‚ๅนผๅฐ‘ๅ…ใ‚ˆใ‚Šๅ‡บ็พใ™ใ‚‹่ง’่†œๆททๆฟใจไฝŽHDL-C่ก€็—‡ใฏๅ…ฑ้€šใ™ใ‚‹ใ€‚ๅพŒ่€…ใฏใ“ใ‚Œใฎใฟใงใ‚ใ‚‹ใŒใ€ๅ‰่€…ใฏ่ตค่ก€็ƒใฎๅฝขๆ…‹็•ฐๅธธ๏ผˆๆบถ่ก€ๆ€ง่ฒง่ก€๏ผ‰ใƒป่›‹็™ฝๅฐฟ๏ผˆ่…Ž้šœๅฎณ๏ผ‰ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚HDL-Cใฏๆญฃๅธธใฎ1/10็จ‹ๅบฆใจใ•ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็ขบๅฎš่จบๆ–ญใซใฏใ€LCATๆดปๆ€ง๏ผˆ่›‹็™ฝ๏ผ‰ใฎๆธฌๅฎšใ‚„้บไผๅญๅค‰็•ฐใ‚’ๅŒๅฎšใ™ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚๏ผ’๏ผŽใ‚ฟใƒณใ‚ธใƒผใƒซ๏ผˆTangier๏ผ‰็—…๏ผ”๏ผ‰ใ‚ขใƒA-โ… ใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซ้‡่ฆใชATP-binding cassette transporter 1 (ABCA1)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใฎ้Žๅ‰ฐ่“„็ฉใซใ‚ˆใ‚‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ€่ง’่†œๆททๆฟใ€่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€็Ÿฅ่ฆš้šœๅฎณใ‚’็คบใ™ใ€‚HDL-Cใ€ใ‚ขใƒA-โ… ใฎไฝŽไธ‹ใ€ใƒ—ใƒญใ‚ขใƒA-โ… ใฎๅข—ๅŠ ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฏๆญฃๅธธใ€‚้บไผๅญ่งฃๆžใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚๏ผ“๏ผŽใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-โ… ๆฌ ๆ็—‡ใƒป็•ฐๅธธ็—‡๏ผ•๏ผ‰ใ‚ขใƒ A-โ… ใฏHDLใฎๆง‹ๆˆใ‚ขใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-โ… ใจใจใ‚‚ใซC-โ…ขใ€A-โ…คใ‚’ๆฌ ๆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅฎŒๅ…จใชๆฌ ๆ็—‡ใจๅค‰็•ฐไฝ“ใจใ—ใฆๆคœๅ‡บใ•ใ‚Œใ‚‹็•ฐๅธธ็—‡ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บๆ€งใŒใ‚ใ‚‹ใ€‚HDL-Cใ€ใ‚ขใƒAใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ‚„ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚„่…Ž้šœๅฎณใฏใชใ„ใ€‚ๅ‹•่„ˆ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฎไบˆ้˜ฒใจใƒใ‚งใƒƒใ‚ฏใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ใ‚ขใƒA-1ใฎๅค‰็•ฐใฎไธ€้ƒจใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใŸใ™" @ja
dcterms:identifier2200605NANDO:2200968
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_12_133_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_017_01.pdf
rdfs:label - "HDL deficiency" + "Marfan syndrome" @en
rdfs:label - "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡" + "ใพใ‚‹ใตใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_133/http://nanbyodata.jp/ontology/NANDO_1200644
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6681
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=942
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_017/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100171http://nanbyodata.jp/ontology/NANDO_2100280
skos:altLabel - "HDLๆฌ ไน็—‡" + "Marfan็—‡ๅ€™็พค" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007947
skos:prefLabel - "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡" + "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "Loeys-Dietz syndrome" + @en + "ใ‚ใ„ใ™ใƒปใงใƒใƒผใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200606 +
http://nanbyodata.jp/ontology/NANDO_2200969 (rdf:type owl:Class @@ -133769,62 +192928,79 @@

hasNotificationNumber39hasNotificationNumber34
dcterms:description - "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่ก€ไธญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰ใฎ็•ฐๅธธ้ซ˜ๅ€คใ€ใ‚ใ‚‹ใ„ใฏ็•ฐๅธธไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณชใฎ้Žๅ‰ฐ่“„็ฉใ‚„ไฝŽไธ‹ใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹129ใ€œ133ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€่ก€ๆธ…่„‚่ณชใ‚„ใƒชใƒ่›‹็™ฝใฎไปฃ่ฌ็ณปใซ้–ข้€ฃใ™ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆๅŽŸ็™บๆ€งใฎ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚" + "ๅคงๅ‹•่„ˆ็—…ๅค‰ใ‚’ไธปใซใ€ๅฟƒ่ก€็ฎก็ณปใ€้ชจๆ ผ็ณปใ€็šฎ่†šไป–ใซใ‚‚็‰นๅพด็š„ใช็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€งใฎ้บไผๆ€ง็ตๅˆ็น”็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹ๅคงๅ‹•่„ˆใ€้ชจๆ ผ็—…ๅค‰ใ‚’ไธปๆ‰€่ฆ‹ใจใ™ใ‚‹ใŒใ€ๅฃ่“‹่ฃ‚ใƒปไบŒๅˆ†ๅฃ่“‹ๅž‚ใƒป็œผ้–“่งฃ้›ขใชใฉใฎ็‰นๅพด็š„ใช้ก”่ฒŒใ€ ๅ…จ่บซๅ‹•่„ˆใฎ่›‡่กŒใ€้ ญ่“‹้ชจๆ—ฉๆœŸ่žๅˆใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใ‚’ใ—ใฐใ—ใฐไผดใ†ใ€‚ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค๏ผˆ๏ผฌ๏ผค๏ผณ๏ผ‰ใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏใ€ ๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ‘ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ’ใ€๏ผณ๏ผญ๏ผก๏ผค๏ผ“ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ’ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ“ใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€2014ๅนดไปฅ้™ใฏๅŽŸๅ› ้บไผๅญใซใ‚ˆใฃใฆใ€ ใใ‚Œใžใ‚Œใ€๏ผฌ๏ผค๏ผณ๏ผ‘ใ€๏ผฌ๏ผค๏ผณ๏ผ’ใ€๏ผฌ๏ผค๏ผณ๏ผ“ใ€๏ผฌ๏ผค๏ผณ๏ผ”ใ€๏ผฌ๏ผค๏ผณ๏ผ•ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใซใฏๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ‚’ไผดใ‚ใชใ„ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค๏ผˆ๏ผ’ๅž‹๏ผ‰ ใจๅ‘ผใฐใ‚ŒใŸใ‚‚ใฎใ‚‚ๅซใฟใ€ใ—ใฐใ—ใฐใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" @ja
dcterms:identifier2200606NANDO:2200969
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_12_134_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_018_01.pdf
rdfs:label - "129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other disorder of lipid metabolism" - @en
+ rdfs:label + "ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_134/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00800
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_018/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100171http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018954
skos:prefLabel - "129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡" + "ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200607 +
http://nanbyodata.jp/ontology/NANDO_2200970 (rdf:type owl:Class @@ -133832,74 +193008,79 @@

hasNotificationNumber31hasNotificationNumber12
dcterms:description - "ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็”ฃ็”Ÿใ‚ใ‚‹ใ„ใฏๆˆ็†ŸใซใŠใ‘ใ‚‹ๅ…ˆๅคฉ็š„้šœๅฎณใซใ‚ˆใ‚Š็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใ‚’็”Ÿใ˜ใ‚‹ไธ€้€ฃใฎ้บไผๆ€ง็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚6็จฎใฎ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅคๅ…ธๅž‹๏ผš Vๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL5A1 COL5Aใ€€้–ข็ฏ€ใฎ้Žไผธๅฑ•ใ€ๅ‰ตๅ‚ทๆฒป็™’้…ๅปถใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้–ข็ฏ€ๅž‹๏ผšๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใŒใ€ๅŽŸๅ› ้บไผๅญใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆŸ”ใ‚‰ใ‹ใ„็šฎ่†šใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’่ชใ‚ใ‚‹ใ€‚่ก€็ฎกๅž‹๏ผš โ…ขๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL3A1ใ€€่–„ใ„้€้Žๆ€งใฎ็šฎ่†šใ€ๅ‹•่„ˆใƒป่…ธ็ฎกใƒปๅญๅฎฎ็ ด่ฃ‚ใ€ๆ˜“ๅ‡บ่ก€ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ๅพŒๅดๅฝŽๅž‹๏ผš ใƒชใ‚ธใƒณใƒใ‚คใƒ‰ใƒญใ‚ชใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ๆฌ ๆใŒๅŽŸๅ› ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ…จ่บซๆ€งๅผ›็ทฉๆ€ง้–ข็ฏ€ใ€ๅ…ˆๅคฉๆ€ง้€ฒ่กŒๆ€ง่„ŠๆคŽๅพŒๅดๅฝŽใ€็œผ็ƒ็ ด่ฃ‚ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹๏ผšIๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผๅˆ‡ๆ–ญ้ƒจไฝใฎ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL1A1 COL1A2 ๅๅพฉๆ€งไบœ่„ฑ่‡ผใ‚’ไผดใ„ๅ…จ่บซๆ€งใฎ้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ€ไธกๅดๅ…ˆๅคฉๆ€ง่‚ก้–ข็ฏ€่„ฑ่‡ผใ‚’่ชใ‚ใ‚‹ใ€‚็šฎ่†šๅผ›็ทฉๅž‹๏ผšใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผใฎๆฌ ๆใŒๅŽŸๅ› ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ๅŽŸๅ› ้บไผๅญใฏใ€ADAMTS2ใ€€็šฎ่†šใฎ่„†ๅผฑๆ€งใ€ใŸใ‚‹ใ‚“ใ ็šฎ่†šใ‚’่ชใ‚ใ‚‹ใ€‚" + "้ ญ่“‹้ชจใƒปไธŠ่…•้ชจใƒปๅคง่…ฟ้ชจใƒป่„›้ชจใƒป่…“้ชจ็ญ‰ใฎ้Žๅ‰ฐใช่†œๅ†…้ชจๅŒ–ใซใ‚ˆใ‚‹้ชจ็šฎ่ณชใฎ่‚ฅๅŽšใจ้•ท็ฎก้ชจ้ชจๅนน้ƒจใฎ็ดก้Œ˜ๅฝข่‚ฅๅคงใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ ๅ››่‚ข็—›ใ‚’็‰นๅพดใจใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง้ชจๅนน็•ฐๅฝขๆˆ็—‡๏ผˆProgressive Diaphyseal Dysplasia๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใฎ็—‡็Šถใฏๅนผๅ…ๆœŸใจ้’ๅนดๆˆไบบๆœŸใง็•ฐใชใ‚‹ใ€‚ ๅนผๅ…ๆœŸใฏใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆ˜“็–ฒๅŠดๆ€งใ‚’ไธปๅพดใจใ—ใ€้’ๅนดๆˆไบบๆœŸใฏใ€้ชจๅนนใฎ็–ผ็—›ใ€ใ‚ใพใ„ใ€้›ฃ่ดใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200607NANDO:2200970
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_019_01.pdf
rdfs:label - "Ehlers-Danlos syndrome" + "Camurati-Engelmann disease" @en
rdfs:label - "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใ‹ใ‚€ใ‚‰ใฆใƒใƒปใˆใ‚“ใ’ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_135/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6384
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100172 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_019/
- skos:altLabel - "Ehlers-Danlos็—‡ๅ€™็พค" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100280
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020066http://purl.obolibrary.org/obo/MONDO_0007542
skos:prefLabel - "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + "ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200608 +
http://nanbyodata.jp/ontology/NANDO_2200971 (rdf:type owl:Class @@ -133907,72 +193088,91 @@

hasNotificationNumber32hasNotificationNumber13
dcterms:description - "ใƒ’ใ‚ขใƒชใƒณๆง˜็‰ฉ่ณชใŒ็šฎ่†šใ‚„็ฒ˜่†œใซๆฒˆ็€ใ™ใ‚‹ใ€‚็‰นๅพด็š„ๆ‰€่ฆ‹ใจใ—ใฆใ€็œผ็žผ็ธใซๅฐไธ˜็–นใŒ็œŸ็ ใฎ้ฆ–ใ‹ใ–ใ‚Š็Šถใซไธ€ๅˆ—ใซไธฆใถใ€‚่‚˜ใชใฉใซ็–ฃ่ด…็Šถใฎ็ต็ฏ€ใ‚„ไธ˜็–นใ€ๅฃ่…”ๅ†…ใซ็™ฝ่‰ฒ็ต็ฏ€ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅฃฐ้–€ใซ็ต็ฏ€ใŒใงใใ‚‹ใจๅ—„ๅฃฐใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€extracellular matrix protein 1(ECM1)้บไผๅญใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "ๅ…ˆๅคฉ็š„ใช๏ผจ๏ผฒ๏ผก๏ผณ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" @ja
dcterms:identifier2200608NANDO:2200971
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_13_136_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_020_01.pdf
rdfs:label - "Lipoid proteinosis" + "Costello syndrome" @en
rdfs:label - "ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡" + "ใ“ใ™ใฆใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2519http://nanbyodata.jp/ontology/NANDO_1200463
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_136/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2004
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_020/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100172http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Costello็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009530http://purl.obolibrary.org/obo/MONDO_0009026
skos:prefLabel - "ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡" + "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "CHARGE syndrome" + @en + "ใกใ‚ƒใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + + + + + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200609 +
http://nanbyodata.jp/ontology/NANDO_2200972 (rdf:type owl:Class @@ -133980,62 +193180,96 @@

hasNotificationNumber33hasNotificationNumber24
dcterms:description - "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ใฏใ€ใ‚ณใƒฉใƒผใ‚ฒใƒณใ€้ชจๅŸบ่ณชใชใฉใฎไปฃ่ฌใซ้–ขไฟ‚ใ™ใ‚‹้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็šฎ่†šใ€้–ข็ฏ€ใ€้ชจใซๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹135ใ€œ138ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ตๅˆ็น”ใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ…20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”ใฎ้…ใ‚Œใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200609NANDO:2200972
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_13_137_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_021_01.pdf
rdfs:label - "135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" - @ja
rdfs:label - "Other connective tissue disorder" - @en
+ rdfs:label + "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_137/http://nanbyodata.jp/ontology/NANDO_1200464
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1942
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1943
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_021/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100172http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "CHARGE็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008965
skos:prefLabel - "135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡" + "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + - - + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200610 +
http://nanbyodata.jp/ontology/NANDO_2200973 (rdf:type owl:Class @@ -134043,72 +193277,107 @@

hasNotificationNumber57hasNotificationNumber25
dcterms:description - "ๅ…ˆๅคฉ็š„ใชใƒ˜ใƒ ๅˆๆˆ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็šฎ่†šๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใจใ—ใฆๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆCEP๏ผ‰ใ€่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆEPP๏ผ‰ใซใ€่‚ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ไพ‹ใจใ—ใฆALA่„ฑๆฐด้…ต็ด ๆฌ ๆ็—‡ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆADP๏ผ‰ใ€ๆ€ฅๆ€ง้–“ๆญ‡ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆAIP๏ผ‰ใ€้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆHCP๏ผ‰ใ€็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(VP)ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆPCT๏ผ‰ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใจ้ชจ้ซ„ใฎไธกๆ–นใซ็•ฐๅธธใฎใ‚ใ‚‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใฏใ€่‚่ตค่Šฝ็ƒใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(HEP)ใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏใ€CEP ADP HEP ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ€ใใฎไป–ใฎ็—…ๅž‹ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๅฐ้กŽ็—‡ใƒป็‹ญใ„้ผปๅ ค๏ผ‰ใ€ๅ‡่กกๅž‹ไฝŽ่บซ้•ทใ€็–Žใชๆฏ›้ซชใ€ๅฐ็œผ็ƒ็—‡ใ‚„ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœ็ญ‰ใฎ็œผ็—‡็Šถใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใ€‚็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค๏ผˆoculo-mandibulo-facial syndrome๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200610NANDO:2200973
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_022_01.pdf
rdfs:label - "porphyria" + "Hallermann-Streiff syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใฏใƒผใ‚‰ใพใ‚“ใƒปใ™ใจใ‚‰ใ„ใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_14_138/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2307
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_022/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100173http://nanbyodata.jp/ontology/NANDO_2100280
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019142 + skos:altLabel + "HSS" + @en
+ skos:altLabel + "Hallermann-Streiff-Francois syndrome" + @en
+ skos:altLabel + "oculo-mandibulo-facial syndrome" + @en
+ skos:altLabel + "็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037939http://purl.obolibrary.org/obo/MONDO_0009318
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" + "ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200611 +
http://nanbyodata.jp/ontology/NANDO_2200974 (rdf:type owl:Class @@ -134116,72 +193385,96 @@

hasNotificationNumber23hasNotificationNumber18
dcterms:description - "ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่‚่‡“ใงๅˆๆˆใ•ใ‚Œใ‚‹็ณ–ใ‚ฟใƒณใƒ‘ใ‚ฏใงใ€่ก€ๆถฒไธญใฎฮฑ1ใ‚ฐใƒญใƒ–ใƒชใƒณๅˆ†็”ปใฎ80ใ‹ใ‚‰90๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่ก€ๆตใ‚’ไป‹ใ—ใฆๆฟƒๅบฆไพๅญ˜็š„ใซ่‚บๅ†…ๆ‹กๆ•ฃใ—ใ€ๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ้˜ปๅฎณๅ‰คใจใ—ใฆ่‚บ่ƒžๅฃใฎ้šœๅฎณใ‚’้˜ฒใไฝœ็”จใŒใ‚ใ‚‹ใ€‚ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใŒ็”Ÿไฝ“ๅ†…ใงๆฌ ๆใ™ใ‚‹ใจใ€ๅฐๅ…ใงใฏใ€่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚้šœๅฎณใ€ๆˆไบบใงใฏๆ—ฉๆœŸ็™บ็—‡ๅž‹่‚บๆฐ—่…ซใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚" + "่‰ฒ็ด ๅคฑ่ชฟ็—‡ใฏใ€็šฎ่†šใ€้ซชใ€ๆญฏใ€็ˆชใ€็›ฎใ€ไธญๆžข็ฅž็ตŒใซ็—‡็ŠถใŒ็พใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช็šฎ่†š็—…ๅค‰ใฏใ€ๆฌกใฎ4ๆฎต้šŽใง้€ฒ่กŒใ™ใ‚‹ใ€‚ ็ฌฌ1ๆœŸใ€€ๆฐด็–ฑๆœŸ๏ผˆๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰4ใƒถๆœˆใพใง๏ผ‰ใ€็ฌฌ2ๆœŸใ€€็–ฃ็Šถ็™บ็–นๆœŸ๏ผˆๆ•ฐใƒถๆœˆ๏ผ‰ใ€็ฌฌ3ๆœŸใ€€ๆธฆๅทป็Šถ่‰ฒ็ด ๆฒˆ็€ๆœŸ๏ผˆ็”ŸๅพŒ6ใƒถๆœˆใ‹ใ‚‰ๆˆไบบใพใง๏ผ‰ใ€ ็ฌฌ4ๆœŸใ€€็ทš็Šถ่‰ฒ็ด ๆถˆ้€€ๆœŸใงใ‚ใ‚‹ใ€‚่„ฑๆฏ›ใ€ๆญฏ็‰™ๆฌ ๆใ€ๆญฏ็‰™ๅฝขๆ…‹็•ฐๅธธใ€็ˆชใฎๆ „้คŠ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็ถฒ่†œใฎ่ก€็ฎกๆ–ฐ็”ŸใŒไธ€้ƒจใฎ็ฝนๆ‚ฃ่€…ใซ่ฆ‹ใ‚‰ใ‚Œใ€ ็ถฒ่†œๅ‰ฅ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚็ฅž็ตŒใซใŠใ‘ใ‚‹ๆ‰€่ฆ‹ใงใฏ่ช็Ÿฅ่ƒฝๅŠ›ใฎ้…ใ‚Œใ€็Ÿฅ็š„้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200611NANDO:2200974
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_15_139_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_023_01.pdf
rdfs:label - "Alpha-1-antitrypsin deficiency" + "Incontinentia Pigmenti" @en
rdfs:label - "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" + "ใ—ใใใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‰ฒ็ด ๅคฑ่ชฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7534http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3455
rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_15_139/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00645
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00885
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100174http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Bloch-Sulzberger Syndrome" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013282http://purl.obolibrary.org/obo/MONDO_0010631
skos:prefLabel - "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡" + "่‰ฒ็ด ๅคฑ่ชฟ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200612 +
http://nanbyodata.jp/ontology/NANDO_2200975 (rdf:type owl:Class @@ -134189,62 +193482,93 @@

hasNotificationNumber10hasNotificationNumber8
dcterms:description - "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฏใ€็จฎใ€…ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ชจ้ซ„ใซๅทจ่ตค่Šฝ็ƒใŒๅ‡บ็พใ™ใ‚‹่ฒง่ก€ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณB12ๆฌ ไนใ‚„่‘‰้…ธๆฌ ไนใชใฉใซใ‚ˆใ‚Šใ€DNAๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œๆ ธใฎๆˆ็†Ÿ้šœๅฎณใ‚’ใใŸใ—ใ€็•ฐๅธธใชๅทจ่ตค่Šฝ็ƒใŒ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚RNAๅˆๆˆใ‚„ใ‚ฟใƒณใƒ‘ใ‚ฏๅˆๆˆ้šœๅฎณใฏ็›ธๅฏพ็š„ใซ่ปฝๅบฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€็ดฐ่ƒž่ณชใฏๆˆ็†Ÿใ—ๅคงใใใชใ‚Šใ€ๆœช็†Ÿใชๅคงใใ„ๆ ธใจ็ดฐ่ƒž่ณช้–“ใฎๆˆ็†Ÿไธไธ€่‡ดใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅทจ่ตค่Šฝ็ƒใฎๅคšใใฏๆˆ็†Ÿใ™ใ‚‹ใ“ใจใŒใงใใšใ€้ชจ้ซ„ๅ†…ใงใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใซใ‚ˆใ‚Šๆญปๆป…ใ—็„กๅŠน้€ ่ก€ใ‚’ใใŸใ™ใ€‚DNAๅˆๆˆ้šœๅฎณใฏๅ…จ่บซใง่ตทใ“ใ‚Šใ€่ฒง่ก€ไปฅๅค–ใซใ‚‚ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" + "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200612NANDO:2200975
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_024_01.pdf
rdfs:label - "Megaloblastic anaemia" + "Antley-Bixler syndrome" @en
rdfs:label - "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" + "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_01_001/http://nanbyodata.jp/ontology/NANDO_1200669
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100176http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Antley-Bixler Syndrome Phenotype" + @en
+ skos:altLabel + "Antley-Bixler็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008803
skos:prefLabel - "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€" + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200613 +
http://nanbyodata.jp/ontology/NANDO_2200976 (rdf:type owl:Class @@ -134252,72 +193576,96 @@

hasNotificationNumber26hasNotificationNumber27
dcterms:description - "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ใŠใ‚ˆใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใŒๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใฎใซๅฏพใ—ใ€่ตค่Šฝ็ƒ็™†ใงใฏ้ธๆŠž็š„ใซ่ตค่ก€็ƒ็ณปใฎใฟใŒๆธ›ๅฐ‘ใ—ใ€้‡็—‡ใฎ่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€็™ฝ่ก€็ƒๆ•ฐใจ่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใซไฟใŸใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใŒใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†ใจใ—ใฆDiamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งๆ…ขๆ€ง่ตค่Šฝ็ƒ็™†ใฏ็—…ๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งใจๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹็ถš็™บๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" + "FGFR2้บไผๅญ๏ผˆๆ™‚ใซFGFR1้บไผๅญ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅ…ˆๅคฉ็š„ใช้ ญ่“‹้ชจใ‚„้ก”้ข้ชจ๏ผˆๅŸบๆœฌ็š„ใซไธ‹้กŽใ‚’้™คใ๏ผ‰ใฎๅฝขๆˆ็•ฐๅธธใŒใŠใ“ใ‚Šใ€่„ณใฎ็™บ้”ใŒๅฆจใ’ใ‚‰ใ‚ŒใŸใ‚Šใ€็œผ็ƒใŒ็ชๅ‡บใ—ใŸใ‚Šใ€ๅ‘ผๅธใŒ้šœๅฎณใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใ€‚ใพใŸๆ‰‹ใŠใ‚ˆใณ่ถณใฎๆŒ‡ใŒไบ’ใ„ใซ็™’ๅˆใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200613NANDO:2200976
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf
rdfs:label - "acquired pure red cell aplasia" + "Pfeiffer syndrome" @en
rdfs:label - "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" + "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01586http://nanbyodata.jp/ontology/NANDO_1200668
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_02_002/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=14
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100177http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Pfeiffer็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005810
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020338http://purl.obolibrary.org/obo/MONDO_0007043
skos:prefLabel - "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + "Coffin-Siris็—‡ๅ€™็พค" + @ja - - + +
http://nanbyodata.jp/ontology/nando#2200614 +
http://nanbyodata.jp/ontology/NANDO_2200977 (rdf:type owl:Class @@ -134325,76 +193673,86 @@

hasNotificationNumber27hasNotificationNumber14
dcterms:description - "Diamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใฏใ€่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏๆญฃๅฝขๆˆใงใ‚ใ‚‹ใŒ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ก”่‰ฒไธ่‰ฏใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€1ๆญณใพใงใซ90๏ผ…ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚็ด„40๏ผ…ใฎไพ‹ใฏ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๆ•ฃ็™บไพ‹ใงใ‚ใ‚‹ใŒใ€็ด„10๏ฝž20๏ผ…ใฎ็—‡ไพ‹ใงใฏๅฎถๆ—ๆญดใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200614NANDO:2200977
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_02_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_026_01.pdf
rdfs:label - "congenital red cell aplasia" + "Coffin-Siris syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" + "ใ“ใตใƒใ‚“ใƒปใ—ใ‚Šใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_02_003/http://nanbyodata.jp/ontology/NANDO_1200670
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100177http://nanbyodata.jp/ontology/NANDO_2100280
skos:altLabel - "Diamond-Blackfan anaemia" - @en
- skos:altLabel - "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015452
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†" + "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใ—ใ‚“ใทใใ‚“ใƒปใ”ใ‚‰ใณใƒปในใƒผใ‚ใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - - - - + "Simpson-Golabi-Behmel็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200615 +
http://nanbyodata.jp/ontology/NANDO_2200978 (rdf:type owl:Class @@ -134402,89 +193760,86 @@

hasNotificationNumber43hasNotificationNumber19
dcterms:description - "ๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ใŠใ‚ˆใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚Iๅž‹ใ‹ใ‚‰IIIๅž‹ใฎ๏ผ“็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚" + "Simpson-Golabi-Behmel ็—‡ๅ€™็พค๏ผˆSGS๏ผ‰ใฏใ€ ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใจ็‰น็•ฐ้ก”่ฒŒใ€ๅคš็™บๅฅ‡ๅฝขใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๅคš็™บๅฅ‡ๅฝขใฏใ€ๅคšๆŒ‡ใ€็ˆชใฎไฝŽๅฝขๆˆใ€ๅฃ่“‹่ฃ‚ใ€ๅฟƒๅฅ‡ๅฝขใ€ๅ‰ฏไนณใ€้ผ ๅพ„ใƒ˜ใƒซใƒ‹ใ‚ขใชใฉใ‚’ไผดใ†ใ€‚็Ÿฅ่ƒฝใฏไธ€่ˆฌใซๆญฃๅธธใ€‚ใพใŸใ€Wilms ่…ซ็˜ใ€่‚่Šฝ่…ซใชใฉใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚" @ja
dcterms:identifier2200615NANDO:2200978
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_03_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_027_01.pdf
rdfs:label - "congenital dyserythropoietic anaemia" + "Simpson-Golabi-Behmel syndrome" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4603 + rdfs:label + "ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00917https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01215
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_03_004/https://www.shouman.jp/disease/details/13_01_027/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100178http://nanbyodata.jp/ontology/NANDO_2100280
skos:altLabel - "CDA" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011855
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019403http://purl.obolibrary.org/obo/MONDO_0010731
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€" + "ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200616 +
http://nanbyodata.jp/ontology/NANDO_2200979 (rdf:type owl:Class @@ -134492,62 +193847,91 @@

hasNotificationNumber46hasNotificationNumber21
dcterms:description - "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„ใซใŠใ‘ใ‚‹็’ฐ็Šถ้‰„่Šฝ็ƒใฎๅ‡บ็พใ‚’็‰นๅพดใจใ—ใ€ๅŒๆ™‚ใซ็„กๅŠน้€ ่ก€ใŒ้€ฒ่กŒใ™ใ‚‹่ฒง่ก€ใงใ‚ใ‚‹ใ€‚็’ฐ็Šถ้‰„่Šฝ็ƒใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซใŠใ‘ใ‚‹้‰„ใฎๅˆฉ็”จ้šœๅฎณใซใ‚ˆใ‚Šๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใ€ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€ใƒ˜ใƒ ๅˆๆˆใฎ็•ฐๅธธใ€้‰„ - ็กซ้ป„ใ‚ฏใƒฉใ‚นใ‚ฟใƒผใฎๅˆๆˆใƒป่ผธ้€็•ฐๅธธใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚„ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAใฎๅค‰็•ฐใƒปๆฌ ๅคฑใชใฉใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใซๅฑžใ™ใ‚‹ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใจใ€่–ฌๅ‰คๆ€งใ€ไธญๆฏ’ๆ€งใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใชใŠใ€ๅ…ˆๅคฉๆ€งใ€ๅพŒๅคฉๆ€งใ‚’ๅ•ใ‚ใšใ€ๆœฌ็–พๆ‚ฃใฎไธ€้ƒจใซใƒ”ใƒชใƒ‰ใ‚ญใ‚ทใƒณๆฒป็™‚ใซๅๅฟœใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚Šใ€็‹ฌ็ซ‹ใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚" + "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พคใฏใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅˆๆˆใฎๆœ€็ต‚ๆฎต้šŽใงใ‚ใ‚‹7-ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ้‚„ๅ…ƒ้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹DHCR7้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใฎไฝŽไธ‹ใฏ็ดฐ่ƒž่†œใฎๆง‹ๆˆใ‚„ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎ็•ฐๅธธใ‚’ใใŸใ—ใ€ๅ…จ่บซๆ€งใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆๆˆ้•ท้šœๅฎณใ€ๅฐ้ ญ็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅค–ๆ€งๅ™จ็•ฐๅธธ๏ผˆ็”ทๅ…๏ผ‰ใ€ๅˆ่ถพ็ญ‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‹ใ‚‰็”Ÿๆˆใ•ใ‚Œใ‚‹ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณใ‚„ๆ€งใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใฎใŸใ‚ใ€ไบŒๆฌก็š„ใชๅ‰ฏ่…Žใƒปๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚Šใ€่ฃœๅ……็™‚ๆณ•ใ‚’่ฆใ™ใ‚‹ใ€‚้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚Šใ€ๆˆไบบๅพŒใ‚‚่ปฝๅฟซใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚" @ja
dcterms:identifier2200616NANDO:2200979
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_04_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_028_01.pdf
rdfs:label - "sideroblastic anaemia" + "Smith-Lemli-Opitz syndrome" @en
rdfs:label - "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + "ใ™ใฟใ™ใƒปใ‚Œใ‚€ใ‚ŠใƒปใŠใดใฃใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_04_005/http://nanbyodata.jp/ontology/NANDO_1200961
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3017
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_028/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100179http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Smith-Lemli-Opitz็—‡ๅ€™็พค" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010035
skos:prefLabel - "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€" + "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200617 +
http://nanbyodata.jp/ontology/NANDO_2200980 (rdf:type owl:Class @@ -134555,77 +193939,98 @@

hasNotificationNumber50hasNotificationNumber30
dcterms:description - "้‰„ใฎ่ผธ้€ใ‚’ๅธใ‚‹ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ๏ผˆtransferrin: TF๏ผ‰ใฎๆฌ ไนใซใ‚ˆใ‚Šใ€้ชจ้ซ„ใซ้‰„ใ‚’ไพ›็ตฆใงใใšใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ใพใŸๅŒๆ™‚ใซใ€ๅˆฉ็”จใ•ใ‚Œใชใ‹ใฃใŸ้‰„ใŒๅ…จ่บซใฎ่‡“ๅ™จใธๆฒˆ็€ใ—ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚‚ใใŸใ™ใ€‚" + "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200617NANDO:2200980
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_05_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_029_01.pdf
rdfs:label - "congenital atransferrinemia" + "Moebius syndrome" @en
rdfs:label - "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" + "ใ‚ใณใ†ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1818http://nanbyodata.jp/ontology/NANDO_1200559
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01145http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=997
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_05_006/https://www.shouman.jp/disease/details/13_01_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100180http://nanbyodata.jp/ontology/NANDO_2100280
+ skos:altLabel + "Mobius syndrome" + @en
+ skos:altLabel + "Moebius็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008846http://purl.obolibrary.org/obo/MONDO_0008006
skos:prefLabel - "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡" + "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - - - - + "Mowat-Wilson็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200618 +
http://nanbyodata.jp/ontology/NANDO_2200981 (rdf:type owl:Class @@ -134633,79 +194038,91 @@

hasNotificationNumber21hasNotificationNumber31
dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚" + "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200618NANDO:2200981
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_06_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_030_01.pdf
rdfs:label - "cold agglutinin disease" + "Mowat-Wilson syndrome" @en
rdfs:label - "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" + "ใ‚‚ใ‚ใฃใจใƒปใ†ใƒใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_06_007/http://nanbyodata.jp/ontology/NANDO_1200663
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2328
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100181http://nanbyodata.jp/ontology/NANDO_2100280
skos:altLabel - "CAD" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005010
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018922http://purl.obolibrary.org/obo/MONDO_0009341
skos:prefLabel - "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡" + "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + - - - - + "Young-Simpson็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200619 +
http://nanbyodata.jp/ontology/NANDO_2200982 (rdf:type owl:Class @@ -134713,79 +194130,91 @@

hasNotificationNumber22hasNotificationNumber32
dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚" + "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200619NANDO:2200982
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_06_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_031_01.pdf
rdfs:label - "paroxysmal cold haemoglobinuria" + "Young-Simpson syndrome" @en
rdfs:label - "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "ใ‚„ใ‚“ใใƒปใ—ใ‚“ใทใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_06_008/http://nanbyodata.jp/ontology/NANDO_1200681
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4182
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100181http://nanbyodata.jp/ontology/NANDO_2100280
skos:altLabel - "PCH" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019533
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020135http://purl.obolibrary.org/obo/MONDO_0011365
skos:prefLabel - "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + + "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผใตใใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200620 +
http://nanbyodata.jp/ontology/NANDO_2200983 (rdf:type owl:Class @@ -134793,79 +194222,84 @@

hasNotificationNumber23hasNotificationNumber26
dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚" + "VATER ็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ•ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER ็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200620NANDO:2200983
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_06_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_032_01.pdf
rdfs:label - "7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "VATER syndrome" + @en
+ rdfs:label + "VATER็—‡ๅ€™็พค" @ja
rdfs:label - "autoimmune haemolytic anaemia" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9446http://nanbyodata.jp/ontology/NANDO_1200657
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_06_009/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1613
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100181 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_032/
- skos:altLabel - "AIHA" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100280
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020108http://purl.obolibrary.org/obo/MONDO_0008642
skos:prefLabel - "7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "VATER็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200621 +
http://nanbyodata.jp/ontology/NANDO_2200984 (rdf:type owl:Class @@ -134873,79 +194307,79 @@

hasNotificationNumber48hasNotificationNumber10
dcterms:description - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆparoxysmal nocturnal hemoglobinuria๏ผŒPNH๏ผ‰ใฏใ€PIG-A้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€๏ผˆใ‚ฏใƒผใƒ ใ‚น้™ฐๆ€ง๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆaplastic anemia๏ผŒAA๏ผ‰ใ‚’ไปฃ่กจใจใ™ใ‚‹ๅพŒๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏ็จ€ใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ใพใŸ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ‚‚ใ‚ใ‚‹1)ใ€‚" + "ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้€ฒ่กŒๆ€ง็—™ๆ€ง้šœๅฎณใ€ๅๅพฉๆ€งๆ„ŸๆŸ“็—‡๏ผˆๅ‘ผๅธๅ™จใ‚„ๅฐฟ่ทฏใชใฉ๏ผ‰ใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใŒใชใ„ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใจ็™‚่‚ฒใซ้ ผใ‚‰ใ–ใ‚‹ใ‚’ๅพ—ใชใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅˆไฝตใŒ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰่ตทใ“ใ‚‹ๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใ‚’ใฏใ˜ใ‚ใจใ—ใŸใ•ใพใ–ใพใชๆ„ŸๆŸ“็—‡ใฏๆ—ฅๅธธ็”Ÿๆดปใ‚’่‘—ใ—ใๅˆถ้™ใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ๆ„ŸๆŸ“็—‡ใ‚„ๆถˆๅŒ–ๅ™จ็—‡็Šถใซๅฏพใ™ใ‚‹ๅฏพ็—‡็™‚ๆณ•ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™ๆ„ŸๆŸ“็—‡ใŒ็”Ÿๅ‘ฝไบˆๅพŒใซ้–ข้€ฃใ™ใ‚‹ใ€‚" @ja
dcterms:identifier2200621NANDO:2200984
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_07_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_033_01.pdf
rdfs:label - "paroxysmal nocturnal haemoglobinuria" + "MECP2 duplication syndrome" @en
rdfs:label - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใˆใ‚€ใ„ใƒผใ—ใƒผใดใƒผ2ใกใ‚‡ใ†ใตใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01053http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3273
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_07_010/https://www.shouman.jp/disease/details/13_01_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100182
- skos:altLabel - "PNH" - @enhttp://nanbyodata.jp/ontology/NANDO_2100280
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018641http://purl.obolibrary.org/obo/MONDO_0010283
skos:prefLabel - "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡" + "MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "ใŸใ‘ใฎใ†ใกใƒปใ“ใ•ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - - - - - - - - - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200622 +
http://nanbyodata.jp/ontology/NANDO_2200985 (rdf:type owl:Class @@ -134953,84 +194387,79 @@

hasNotificationNumber1hasNotificationNumber23
dcterms:description - "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚" + "ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟไฝŽไธ‹็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€ๅฑˆๆŒ‡ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็‰นๅพด็š„้ก”่ฒŒใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€้ƒจใฎๆ‚ฃ่€…ใซใฏใ€็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใ€ๅๅพฉๆ„ŸๆŸ“็—‡ใ€ใƒชใƒณใƒ‘ๆตฎ่…ซใ€ใ‚’่ชใ‚ใ‚‹ใ€‚CDC42้บไผๅญใซใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๆ–ฐ็”Ÿ็ช็„ถๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚CDC42ใฏใ€็ดฐ่ƒžๅ‘จๆœŸใฎ่ชฟ็ฏ€ใ‚„็ดฐ่ƒž้ชจๆ ผใฎๅฝขๆˆ็ถญๆŒใซ้‡่ฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅคšๅฝฉใช็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใฏใ€ๅฐๅ…ๆœŸไปฅ้™ใ‚‚่ปฝๅฟซใ›ใšใ€ๆˆไบบๆœŸไปฅ้™ใ‚‚ๆŒ็ถšใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๆญฆๅ†…ใŠใ‚ˆใณๅฐๅดŽใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200622NANDO:2200985
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_034_01.pdf
rdfs:label - "hereditary spherocytosis" + "Takenouchi-Kosaki syndrome" @en
rdfs:label - "้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00230 + rdfs:label + "ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_011/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183
- skos:altLabel - "HS" - @enhttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9077
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019350 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_034/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100280
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019395http://purl.obolibrary.org/obo/MONDO_0014757
skos:prefLabel - "้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡" + "ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200623 +
http://nanbyodata.jp/ontology/NANDO_2200986 (rdf:type owl:Class @@ -135038,67 +194467,93 @@

hasNotificationNumber4hasNotificationNumber1
dcterms:description - "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚" + "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆoculocutaneous albinism; OCA ๏ผ‰ใฏใ€ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ใฏๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใงใ‚ใ‚Šใ€้’๏ฝž็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€็™ฝ๏ฝž่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็œผใฎ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็šฎ่†š็—‡็ŠถใŒๅˆค็„ถใจใ›ใšใ€็œผใฎ็—‡็Šถใฎใฟใฎใ‚‚ใฎใฏ็œผ็™ฝ็šฎ็—‡๏ผˆocular albinism๏ผ›OA๏ผ‰ใจใ„ใ†ใ€‚ๅ…จใฆใฎOCAใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚OAใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’็—‡ๅ€™ๅž‹๏ผˆsyndromic albinism๏ผ‰ใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ็—‡ๅ€™ๅž‹ใซใฏใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’็คบใ™Hermansky-Pudlak syndrome๏ผˆHPS๏ผ‰, ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใจๅ…็–ซไธๅ…จใ‚’ไผดใ†Chรฉdiak-Higashi syndrome๏ผˆCHS๏ผ‰, CHSใซ่‡จๅบŠ็—‡็Šถใฏ้กžไผผใ™ใ‚‹ใŒ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใ‚’ๆŒใŸใชใ„Griscelli syndrome๏ผˆGS๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ใจใ‚‚ใชใ‚ใชใ„ใ‚ฟใ‚คใƒ—ใ‚’้ž็—‡ๅ€™ๅž‹๏ผˆnon-syndromic albinism๏ผ‰ใจๅ‘ผใถใ€‚้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ7็จฎ้กžใ€็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ13็จฎ้กžใ€่จˆ20็จฎ้กžใฎๅŽŸๅ› ้บไผๅญ๏ผˆ้บไผๅญๅบงใ‚’ๅซใ‚€๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1๏ผ‰ใ€‚่กจ๏ผ‘๏ผŽ็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎ็—…ๅ› ้บไผๅญใซใ‚ˆใ‚‹ๅˆ†้กž" @ja
dcterms:identifier2200623NANDO:2200986
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_01_001_01.pdf
rdfs:label - "Hereditary stomatocytosis" + "oculocutaneous albinism" @en
rdfs:label - "ๅฃๅ”‡่ตค่ก€็ƒ็—‡" + "ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็œผ็šฎ่†š็™ฝ็šฎ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_012/http://nanbyodata.jp/ontology/NANDO_1200637
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183http://nanbyodata.jp/ontology/NANDO_2100282
+ skos:altLabel + "OCA" + @en
+ skos:altLabel + "ๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020102http://purl.obolibrary.org/obo/MONDO_0018910
skos:prefLabel - "ๅฃๅ”‡่ตค่ก€็ƒ็—‡" + "็œผ็šฎ่†š็™ฝ็šฎ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200624 +
http://nanbyodata.jp/ontology/NANDO_2200987 (rdf:type owl:Class @@ -135106,94 +194561,86 @@

hasNotificationNumber2hasNotificationNumber4
dcterms:description - "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚" + "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใซใฏ็†ฑๅ‚ทใ‚’ๆ€ใ‚ใ›ใ‚‹ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใ€็ด…็šฎ็—‡ใŒใฟใ‚‰ใ‚Œใ€ใใฎๅพŒใ‚‚ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใ‚’ไธญๅฟƒใซๅผ›็ทฉๆ€งๆฐด็–ฑใจๆต…ใ„ใณใ‚‰ใ‚“ใฎๅฝขๆˆใŒๅๅพฉใ™ใ‚‹[1]-[3]ใ€‚" @ja
dcterms:identifier2200624NANDO:2200987
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label - "sickle cell disease" + "keratinopathic ichthyosis" @en
rdfs:label - "้ŽŒ็Šถ่ตค่ก€็ƒ็—‡" + "ใ‘ใ‚‰ใกใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4195http://nanbyodata.jp/ontology/NANDO_1200610
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_013/https://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183http://nanbyodata.jp/ontology/NANDO_2100283
skos:altLabel - "SCD" + "epidermolytic ichthyosis and superficial epidermolytic ichthyos" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000359
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007374
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011382
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018484http://purl.obolibrary.org/obo/MONDO_0017266
skos:prefLabel - "้ŽŒ็Šถ่ตค่ก€็ƒ็—‡" + "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200625 +
http://nanbyodata.jp/ontology/NANDO_2200988 (rdf:type owl:Class @@ -135201,62 +194648,72 @@

hasNotificationNumber7
- dcterms:description - "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200625NANDO:2200988
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label - "Unstable haemoglobin disease" + "Autosomal dominant epidermolytic ichthyosis" @en
rdfs:label - "ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_014/http://nanbyodata.jp/ontology/NANDO_1200611
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183http://nanbyodata.jp/ontology/NANDO_2200987
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020702
skos:prefLabel - "ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡" + "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200626 +
http://nanbyodata.jp/ontology/NANDO_2200989 (rdf:type owl:Class @@ -135264,67 +194721,72 @@

hasNotificationNumber5
- dcterms:description - "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200626NANDO:2200989
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label - "thalassaemia" + "Autosomal recessive epidermolytic ichthyosis" @en
rdfs:label - "ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00228http://nanbyodata.jp/ontology/NANDO_1200612
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_015/https://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183http://nanbyodata.jp/ontology/NANDO_2200987
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044742
skos:prefLabel - "ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200627 +
http://nanbyodata.jp/ontology/NANDO_2200990 (rdf:type owl:Class @@ -135332,67 +194794,77 @@

hasNotificationNumber3
- dcterms:description - "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200627NANDO:2200990
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label - "Glucose-6-phosphate dehydrogenase deficiency" + "Superficial epidermolytic ichthyosis" @en
rdfs:label - "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡" + "ใฒใ‚‡ใ†ใ–ใ„ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_016/http://nanbyodata.jp/ontology/NANDO_1200613
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=805
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183http://nanbyodata.jp/ontology/NANDO_2200987
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005775http://purl.obolibrary.org/obo/MONDO_0007813
skos:prefLabel - "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡" + "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200628 +
http://nanbyodata.jp/ontology/NANDO_2200991 (rdf:type owl:Class @@ -135400,62 +194872,79 @@

hasNotificationNumberhasNotificationNumber 6
dcterms:description - "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚" + "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใŒใ€ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใฏไผดใ‚ใชใ„ใ€‚ใ“ใฎ็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ้กžไผผใ—ใŸ่‡จๅบŠ็—‡็Šถใจ้บไผๅญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใ‚’ใพใจใ‚ใŸๆฆ‚ๅฟตใงใ‚ใ‚‹ใŸใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ[1][2]ใ€‚" @ja
dcterms:identifier2200628NANDO:2200991
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_003_01.pdf
rdfs:label - "Hemolytic anaemia due to red cell pyruvate kinase deficiency" + "Autosomal recessive congenital ichthyosis" @en
rdfs:label - "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€" + "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira
+ rdfs:label + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_017/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00734
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183http://nanbyodata.jp/ontology/NANDO_2100283
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017265
skos:prefLabel - "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€" + "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - + + - + - + + "harlequin ichthyosis" + @en + "ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200629 +
http://nanbyodata.jp/ontology/NANDO_2200992 (rdf:type owl:Class @@ -135463,62 +194952,84 @@

hasNotificationNumber8hasNotificationNumber7
dcterms:description - "ไปฅไธ‹ใฎๆง˜ใช็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸ๏ผˆ่ƒŽๅ…ๆœŸ๏ผ‰ใฎๆบถ่ก€ๆ€ง่ฒง่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€็„ก็—‡็Šถใซ็ตŒ้Žใ™ใ‚‹ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚่ฉณ็ดฐใฏๆˆๆ›ธ๏ผˆNathan & Oski's Hematology of Infancy and Childhood, Saunders ๏ผ‰ใ‚’ๅ‚็…งใ€‚้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ Hereditary elliptocytosisใ€Hereditaryใ€€pyropoikilocytosis,Classic hereditary XerocytosisSomatocytic XerocytosisXerocytosis with high phosphatiylcholine hemolytic anemiaHemoglobin C disease" + "ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€ๅ‡บ็”Ÿๆ™‚ใซใฏใ€ใ™ใงใซๅ…จ่บซใŒๅŽšใ„ๆฟ็Šถใฎ่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†šใฎๆทฑใ„ไบ€่ฃ‚ใ€็œผ็žผๅค–ๅใ€ๅฃๅ”‡ใฎ็ชๅ‡บใƒป้–‹ๅฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใฎ้ญš้ฑ—็™ฌใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹[1][2]ใ€‚" @ja
dcterms:identifier2200629NANDO:2200992
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_004_01.pdf
rdfs:label - "11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" - @ja
rdfs:label - "Other hereditary haemolytic anaemia" - @en
+ rdfs:label + "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/http://nanbyodata.jp/ontology/NANDO_1200614
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2433
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100183http://nanbyodata.jp/ontology/NANDO_2100283
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009443
skos:prefLabel - "11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" @ja
- - + - + + + + + - + - + + + + + - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200630 +
http://nanbyodata.jp/ontology/NANDO_2200993 (rdf:type owl:Class @@ -135526,65 +195037,96 @@

hasNotificationNumberhasNotificationNumber 8
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๆฏ›้ซชใฎ็•ฐๅธธใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็–พๆ‚ฃใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1]ใ€‚" + @ja
dcterms:identifier2200630NANDO:2200993
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_005_01.pdf
rdfs:label - "Hereditary elliptocytosis" + "Netherton syndrome" @en
rdfs:label - "้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡" + "ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00231http://nanbyodata.jp/ontology/NANDO_1200338
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/http://nanbyodata.jp/ontology/NANDO_1200619
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2721
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200629http://nanbyodata.jp/ontology/NANDO_2100283
+ skos:altLabel + "Netherton็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017319http://purl.obolibrary.org/obo/MONDO_0009735
skos:prefLabel - "้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡" + "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200631 +
http://nanbyodata.jp/ontology/NANDO_2200994 (rdf:type owl:Class @@ -135592,65 +195134,98 @@

hasNotificationNumber8hasNotificationNumber5
+ dcterms:description + "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซใ€ๅ››่‚ขใฎ็—™ๆ€ง้บป็—บใ€ใชใ‚‰ใณใซ็ฒพ็ฅž้…ๆปžใ‚’ๅˆไฝตใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1][2]ใ€‚" + @ja
dcterms:identifier2200631NANDO:2200994
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_006_01.pdf
rdfs:label - "Hereditaryใ€€pyropoikilocytosis" + "Sjรถgren-Larsson syndrome" @en
rdfs:label - "้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡" + "ใ—ใ‡ใƒผใใ‚Œใ‚“ใƒปใ‚‰ใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2935http://nanbyodata.jp/ontology/NANDO_1200620
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3013
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200629http://nanbyodata.jp/ontology/NANDO_2100283
+ skos:altLabel + "Sjogren-Larsson syndrome" + @en
+ skos:altLabel + "Sjogren-Larsson็—‡ๅ€™็พค" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009948http://purl.obolibrary.org/obo/MONDO_0010031
skos:prefLabel - "้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡" + "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + "2ใ‹ใ‚‰6ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200632 +
http://nanbyodata.jp/ontology/NANDO_2200995 (rdf:type owl:Class @@ -135658,62 +195233,69 @@

hasNotificationNumber8hasNotificationNumber9
+ dcterms:description + "ๅ…จ่บซ็šฎ่†šใซๆง˜ใ€…ใชๅŽšใ•ใฎ้ฑ—ๅฑ‘ใ€้ญš้ฑ—็™ฌใ‚’็”Ÿใ˜ใ‚‹้บไผๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ใ€‚็šฎ่†šใฎ็™บ่ตค(ๆฝฎ็ด…ใ€็ด…็šฎ็—‡)ใฎ็จ‹ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎไธปใชใ‚‚ใฎใซใฏใ€5.Netherton็—‡ๅ€™็พคใ€‘ใ€ใ€6.Sjรถgren-Larsson็—‡ๅ€™็พคใ€‘ไปฅๅค–ใฎ้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฏใ€้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๅŠ ใˆใฆๆง˜ใ€…ใชไป–่‡“ๅ™จ็—‡็Šถใ‚’ไผดใ†ใ‚‚ใฎใงใ‚ใ‚Šใ€็šฎ่†š็ง‘็š„ใชๆฒป็™‚ใซๅŠ ใˆใ€ๅˆไฝตใ™ใ‚‹่‡“ๅ™จ็—‡็Šถใซๅฟœใ˜ใฆๅฐๅ…็ง‘ใ€็œผ็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€็ฒพ็ฅž็ง‘ใชใฉใฎๅฐ‚้–€้ ˜ๅŸŸใงใฎๅฏพๅฟœใ‚‚ๅฟ…่ฆใจใชใ‚‹ใ€‚ใ€€ไปฃ่กจ็š„ใชใ‚‚ใฎใจใ—ใฆใ€KID็—‡ๅ€™็พคใ€Dorfman-Chanarin็—‡ๅ€™็พคใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚KID็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€Dorfman-Chanarin็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹[1]-[5]ใ€‚" + @ja
dcterms:identifier2200632NANDO:2200995
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label - "Classic hereditary Xerocytosis" - @en
rdfs:label - "Classic hereditary Xerocytosis" + "2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" @ja
+ rdfs:label + "Other congenital ichthyoses" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/https://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200629
- skos:altLabel - "ๅคๅ…ธ็š„้บไผๆ€งไนพ็‡ฅ่ตค่ก€็ƒ็—‡" - @jahttp://nanbyodata.jp/ontology/NANDO_2100283
skos:prefLabel - "Classic hereditary Xerocytosis" + "2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" @ja
- - + - - + + - + - + + + + + + "ใ‘ใƒผใ‚ใ„ใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200633 +
http://nanbyodata.jp/ontology/NANDO_2200996 (rdf:type owl:Class @@ -135721,55 +195303,79 @@

hasNotificationNumber8hasNotificationNumber9
dcterms:identifier2200633NANDO:2200996
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
+ rdfs:label + "KID็—‡ๅ€™็พค" + @ja
rdfs:label - "Somatocytic Xerocytosis" + "keratitis-ichthyosis-deafness syndrome" @en
rdfs:label - "Somatocytic Xerocytosis" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/http://nanbyodata.jp/ontology/NANDO_1200621
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200629http://nanbyodata.jp/ontology/NANDO_2200995
+ skos:altLabel + "KID syndrome" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018781
skos:prefLabel - "Somatocytic Xerocytosis" + "KID็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200634 +
http://nanbyodata.jp/ontology/NANDO_2200997 (rdf:type owl:Class @@ -135777,55 +195383,89 @@

hasNotificationNumber8hasNotificationNumber9
dcterms:identifier2200634NANDO:2200997
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label - "Xerocytosis with high phosphatiylcholine hemolytic anemia" + "Dorfman-Chanarin syndrome" @en
rdfs:label - "Xerocytosis with high phosphatiylcholine hemolytic anemia" + "ใฉใ‚‹ใตใพใ‚“ใƒปใ—ใ‚ƒใชใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/http://nanbyodata.jp/ontology/NANDO_1200622
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3139
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200629http://nanbyodata.jp/ontology/NANDO_2200995
+ skos:altLabel + "neutral lipid storage disease" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010155
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015611
skos:prefLabel - "Xerocytosis with high phosphatiylcholine hemolytic anemia" + "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200635 +
http://nanbyodata.jp/ontology/NANDO_2200998 (rdf:type owl:Class @@ -135833,60 +195473,89 @@

hasNotificationNumber8hasNotificationNumber9
dcterms:identifier2200635NANDO:2200998
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_08_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label - "Hemoglobin C disease" + "CHILD syndrome" @en
rdfs:label - "ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡" + "CHILD็—‡ๅ€™็พค" @ja
+ rdfs:label + "ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_018/http://nanbyodata.jp/ontology/NANDO_1200629
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_2201358
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3446
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200629http://nanbyodata.jp/ontology/NANDO_2200995
+ skos:altLabel + "Congenital hemidysplasia with ichthyosiform nevus and limb defects" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016242http://purl.obolibrary.org/obo/MONDO_0010621
skos:prefLabel - "ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡" + "CHILD็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + + "ใ‚ใ„ใˆใตใˆใƒผใดใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200636 +
http://nanbyodata.jp/ontology/NANDO_2200999 (rdf:type owl:Class @@ -135894,62 +195563,67 @@

hasNotificationNumber52
- dcterms:description - "่„พๆฉŸ่ƒฝไบข้€ฒใซใ‚ˆใ‚Šใ€่ตค่ก€็ƒ็ ดๅฃŠใฎไบข้€ฒใ‚„ๆ•ๆ‰ใƒป่ฒฏ่”ต่ƒฝใฎๅข—ๅคงใŒ่ตทใ“ใ‚Š่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€โ‘ ๏ผ‘็ณป็ตฑไปฅไธŠใฎ่ก€็ƒๆธ›ๅฐ‘ใ€โ‘ก่ก€็ƒๆธ›ๅฐ‘ใซๅฏพๅฟœใ—ใŸ้ชจ้ซ„้Žๅฝขๆˆใ€โ‘ข่„พ่…ซใ€โ‘ฃ่„พๆ‘˜ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใฎๆ”นๅ–„ใ€ใฎ4้ …็›ฎใ™ในใฆใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆDameshek๏ผ‰ใ€‚" - @jahasNotificationNumber9
dcterms:identifier2200636NANDO:2200999
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_09_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
+ rdfs:label + "IFAP็—‡ๅ€™็พค" + @ja
rdfs:label - "haemolytic anaemia" + "Ichthyosis-follicularis-atrichia-photophobia syndrome" @en
rdfs:label - "ๆบถ่ก€ๆ€ง่ฒง่ก€" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_09_019/https://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100184http://nanbyodata.jp/ontology/NANDO_2200995
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100213
skos:prefLabel - "ๆบถ่ก€ๆ€ง่ฒง่ก€" + "IFAP็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200637 +
http://nanbyodata.jp/ontology/NANDO_2201000 (rdf:type owl:Class @@ -135957,55 +195631,79 @@

hasNotificationNumber52hasNotificationNumber12
+ dcterms:description + "ๅนณๆˆ๏ผ–ๅนดใซๅฎŸๆ–ฝใ—ใŸๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใซใ‚ˆใ‚‹ใจใ€ๅ…จๅ›ฝๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ500๏ฝž640ไบบใ€‚ๆ€งๆฏ”ใฏ็”ทๅฅณใปใผๅŒๆ•ฐใ€ๅนด้ฝขๅˆฅใงใฏ๏ผ•ๆญณๆœชๆบ€ใŒๆœ€ใ‚‚ๅคšใ22๏ผ…ใ€‚็™บ็—‡ๅนด้ฝขใฏ็ด„๏ผ™ๅ‰ฒใŒ๏ผ‘ๆญณๆœชๆบ€ใ€‚็—…ๅž‹ๅˆฅใงใฏ(1)ๅ˜็ด”ๅž‹ใ€€32๏ผ…(2)ๆŽฅๅˆ้ƒจๅž‹ใ€€7๏ผ…(3)ๅ„ชๆ€งใจๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€€ใใ‚Œใžใ‚Œ21๏ผ…ใจ33๏ผ…(4)ใใฎไป–ใ€€7๏ผ… ใงใ€็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญๅฏพ่ฑก๏ผˆ(2)ใ€(3)๏ผ‰ใฎๅˆ่จˆใฏ61๏ผ…ใ€‚ๅ—็™‚็Šถๆณใฏใ€ไธปใซ้€š้™ขใŒ็ด„50๏ผ…ใงๆœ€ใ‚‚ๅคšใใ€ๆฌกใ„ใงๅœจๅฎ…็™‚ๆณ•16๏ผ…ใ€่ปฝๅฟซ10๏ผ…ใ€ไธปใซๅ…ฅ้™ข3๏ผ…ใฎ้ †ใ€‚่ปฝ็—‡ไพ‹ใ‚‚ๅซใ‚ใ€ๅฎŸ้š›ใฎๆ‚ฃ่€…ๆ•ฐใฏใ•ใ‚‰ใซๅคšใ„ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ใใฎ้บไผๅฝขๅผใจๆฐด็–ฑใฎๅฝขๆˆใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚๏ผˆ่กจ1๏ผ‰(ๆ–ฐๅ›ฝ้š›่จบๆ–ญๅŸบๆบ– Fineetal. JAm Acad Dermatol(2008)ใ‹ใ‚‰ๅผ•็”จ)" + @ja
dcterms:identifier2200637NANDO:2201000
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_09_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "haemolytic anaemia due to hypersplenism" + "Epidermolysis bullosa" @en
rdfs:label - "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡" + "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_09_019/http://nanbyodata.jp/ontology/NANDO_1200234
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200636http://nanbyodata.jp/ontology/NANDO_2100284
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006541
skos:prefLabel - "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡" + "่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200638 +
http://nanbyodata.jp/ontology/NANDO_2201001 (rdf:type owl:Class @@ -136013,69 +195711,93 @@

hasNotificationNumber47hasNotificationNumber10
dcterms:description - "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ" + "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—…็†็ต„็น”ๅญฆ็š„ใซKogoj ๆตท็ถฟ็Šถ่†ฟ็–ฑใ‚’็‰นๅพดใจใ™ใ‚‹่ง’ๅฑคไธ‹่†ฟ็–ฑใ‚’ๅฝขๆˆใ™ใ‚‹๏ผŽๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒๆœฌ็—‡ใฎ็‰นๅพดใงใ‚ใ‚‹๏ผŽๅฐ‹ๅธธๆ€งไนพ็™ฌ็šฎ็–นใŒๅ…ˆ่กŒใ™ใ‚‹ไพ‹ใซใคใ„ใฆใฏๆˆไบบไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใฎใงไป–็จฟใซ่ญฒใ‚‹ใ€‚็ตŒ้Žไธญใซๅ…จ่บซๆ€ง็‚Ž็—‡ๅๅฟœใซไผดใ†่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹2)ใ€‚" @ja
dcterms:identifier2200638NANDO:2201001
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_04_009_01.pdf
rdfs:label - "microangiopathic haemolytic anaemia" + "Pustular psoriasis" @en
rdfs:label - "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_10_020/http://nanbyodata.jp/ontology/NANDO_1200240
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_04_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100185http://nanbyodata.jp/ontology/NANDO_2100285
skos:altLabel - "MAHA" + "GPP" + @en
+ skos:altLabel + "Generalized pustular psoriasis" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022205
skos:prefLabel - "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200639 +
http://nanbyodata.jp/ontology/NANDO_2201002 (rdf:type owl:Class @@ -136083,79 +195805,86 @@

hasNotificationNumber47hasNotificationNumber2
dcterms:description - "ๅฟ—่ณ€ๆฏ’็ด ๏ผˆShiga toxin: STX๏ผŒใƒ™ใƒญๆฏ’็ด  Vero toxin: VTใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’็”ฃ็”Ÿใ™ใ‚‹่…ธ็ฎกๅ‡บ่ก€ๆ€งๅคง่…ธ่Œ๏ผˆ enterohemorrhagic Escherichia coli: EHEC๏ผ‰ใซใ‚ˆใ‚‹่…ธ็‚Žใซๅผ•ใ็ถšใ๏ผŒTMAใฎ3ไธปๅพด๏ผˆๆจ™็š„้šœๅฎณ่‡“ๅ™จใฏ่…Ž๏ผ‰ใŒใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒSTEC-HUSใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ" + "ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้ซ˜็™บ็™Œๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ8ใคใฎใ‚ตใƒ–ใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚" @ja
dcterms:identifier2200639NANDO:2201002
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_05_010_01.pdf
rdfs:label - "disseminated intravascular coagulation" + "Xeroderma pigmentosum" @en
rdfs:label - "ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค" + "ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01587http://nanbyodata.jp/ontology/NANDO_1200608
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_10_020/https://www.shouman.jp/disease/details/14_05_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200638http://nanbyodata.jp/ontology/NANDO_2100286
skos:altLabel - "DIC" + "XP" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001243http://purl.obolibrary.org/obo/MONDO_0019600
skos:prefLabel - "ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค" + "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200640 +
http://nanbyodata.jp/ontology/NANDO_2201003 (rdf:type owl:Class @@ -136163,69 +195892,98 @@

hasNotificationNumber47hasNotificationNumber14
dcterms:description - "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ" + "ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจใ€็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎใปใ‹้ชจใ€็œผใ€็ฅž็ตŒใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200640NANDO:2201003
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_06_011_01.pdf
rdfs:label - "Shiga toxin-producing Escherichia coli hemolytic uremic syndrome" + "von Recklinghausen's disease" @en
rdfs:label - "ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹" + "ใ‚Œใฃใใ‚Šใ‚“ใใฏใ†ใœใ‚“ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_10_020/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1066
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_06_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200638http://nanbyodata.jp/ontology/NANDO_2100287
skos:altLabel - "STEC-HUS" + "neurofibromatosis type 1" @en
+ skos:altLabel + "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018975
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021061
skos:prefLabel - "ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹" + "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200641 +
http://nanbyodata.jp/ontology/NANDO_2201004 (rdf:type owl:Class @@ -136233,72 +195991,84 @@

hasNotificationNumber47hasNotificationNumber11
dcterms:description - "aHUSใฏ๏ผŒSTEC-HUSใจADAMTS13ใฎๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณใง๏ผŒMAHA๏ผŒ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒๆ€ฅๆ€ง่…Žๅ‚ทๅฎณ๏ผˆAKI๏ผ‰ใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹" + "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡(pachydermoperiostosis, PDP)ใฏๅคช้ผ“ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽš๏ผˆ่„ณๅ›ž่ปข็Šถ้ ญ็šฎใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2ๆฌกๆ€ง๏ผˆ็ถš็™บๆ€ง๏ผ‰ใจใ—ใฆ่‚บใŒใ‚“ใชใฉใฎ่ƒธ่…”ๅ†…็–พๆ‚ฃใซใ‚ˆใ‚‹ใ‚‚ใฎใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€ง่‚ฅๅคงๆ€ง้ชจ้–ข็ฏ€็—‡๏ผˆprimary hypertrophic osteoarthropathy, PHO)ใ‚‚็พๅœจใงใฏๅŽŸๅ› ้บไผๅญใŒๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€้ชจใƒป้–ข็ฏ€็—‡็Šถใซ็€็›ฎใ—ใŸ็—…ๅใง็šฎ่†š็—‡็Šถใฎๆœ‰็„กใ‚’ๅ•ใ‚ใชใ„ใ€‚1868ๅนดใ€FriedreichใŒใ€๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ๆœฌ็—‡ใงใฏๅคšๅฝฉใชๅˆไฝต็—‡ใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅคšๆฑ—็—‡ใ€็œผ็žผไธ‹ๅž‚ใ€่„ฑๆฏ›ใ€ไธ‹่…ฟๆฝฐ็˜ใซๅŠ ใˆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใจใ—ใฆ10ไปฃใ‹ใ‚‰ใฎ่ƒƒใƒปๅไบŒๆŒ‡่…ธๆฝฐ็˜ใ‚„่ƒƒ็ฒ˜่†œๅทจๅคง่ฅžๅฃใ‚„้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅพŒ่€…ใฏๆœ€่ฟ‘ๅŽŸๅ› ้บไผๅญใŒๆœฌ็—‡ใจๅŒไธ€ใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใ€ๆœฌ็—‡ใฎ้‡่ฆใชๅˆไฝต็—‡ใจไฝ็ฝฎใฅใ‘ใ‚‰ใ‚ŒใŸใ€‚ใใฎใปใ‹้ชจ้ซ„็ทš็ถญ็—‡ใ‚„ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ€็šฎ่†šใƒป้ชจใฎใฟใชใ‚‰ใšๅคšใใฎ่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ™็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200641NANDO:2201004
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_07_012_01.pdf
rdfs:label - "aHUS" + "pachydermoperiostosis" @en
rdfs:label - "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01434http://nanbyodata.jp/ontology/NANDO_1200642
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_10_020/https://www.shouman.jp/disease/details/14_07_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200638http://nanbyodata.jp/ontology/NANDO_2100288
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016244http://purl.obolibrary.org/obo/MONDO_0009799
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016620
skos:prefLabel - "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค" + "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200642 +
http://nanbyodata.jp/ontology/NANDO_2201005 (rdf:type owl:Class @@ -136306,62 +196076,74 @@

hasNotificationNumber47hasNotificationNumber13
dcterms:description - "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใซ๏ผŒๅพฎๅฐ่ก€็ฎกใซ่ก€็ฎกๅ†…็šฎ็ดฐ่ƒž้šœๅฎณ๏ผŒ่ก€็ฎกๅฃใฎ็กๅญๆง˜ๅค‰ๆ€งใ‚’ไผดใ†่‚ฅๅŽšใ‹ใ‚‰ใชใ‚‹ๅพฎๅฐ่ก€็ฎก้šœๅฎณ๏ผˆmicroangiopathy๏ผ‰ใ‚’ใใŸใ—๏ผŒ่™š่ก€ๆ€ง่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ" + "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏๆฏ›้ซชใ€ๆญฏ็‰™ใ€็ˆชใ€ๆฑ—่…บใฎๅฝขๆˆไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธป่ฆใช่‡จๅบŠๅพดๅ€™ใฏใ€็šฎ่†šใจไป˜ๅฑžๅ™จใฎๅฝขๆˆไธๅ…จๅŠใณ็‰นๅพด็š„้ก”่ฒŒใงใ‚ใ‚Šใ€ใใฎ็—‡็Šถใฏๆฐธ็ถš็š„ใง้€ฒ่กŒใฏใ—ใชใ„ใ€‚ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹็„กๆฑ—(ไฝŽๆฑ—)ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏใ€1929ๅนดWeechใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงใซ150๏ฝž200ใ‚’่ถ…ใˆใ‚‹็—…ๅž‹ใŒ่จ˜่ผ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200642NANDO:2201005
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_10_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_08_013_01.pdf
rdfs:label - "SCT-TMA" + "anhidrotic ectodermal dysplasia" @en
rdfs:label - "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡" + "ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“" + @ja-Hira
+ rdfs:label + "็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_10_020/https://www.shouman.jp/disease/details/14_08_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200638http://nanbyodata.jp/ontology/NANDO_2100289
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016535
skos:prefLabel - "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡" + "็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" @ja
- - + - - + + - + - + + + + + - + - + - + + "Stevens-Johnson็—‡ๅ€™็พค" + @ja - +
http://nanbyodata.jp/ontology/nando#2200643 +
http://nanbyodata.jp/ontology/NANDO_2201006 (rdf:type owl:Class @@ -136369,79 +196151,86 @@

hasNotificationNumber25hasNotificationNumber3
dcterms:description - "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "ใ‚นใƒ†ใ‚ฃใƒผใƒ–ใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค(SJS:Stevens-Johnson ็—‡ๅ€™็พค๏ผ‰ใฏใ€38โ„ƒไปฅไธŠใฎ้ซ˜็†ฑใ‚’ไผดใ„ๅ…จ่บซใฎ็šฎ่†šใซ็ด…ๆ–‘ใ‚„ๆฐด็–ฑใƒปใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ€็œผ็ต่†œใ‚„่ง’่†œใ€ๅฃๅ”‡ใƒปๅฃ่…”็ฒ˜่†œใ€้™ฐ้ƒจใชใฉใซใณใ‚‰ใ‚“ใ‚„ๅ‡บ่ก€ใจใ„ใฃใŸ้‡็ฏคใช็ฒ˜่†œ็–นใ‚’่ชใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ใฏ็šฎ่†šใฎใณใ‚‰ใ‚“้ข็ฉใŒ10๏ผ…ไปฅไธŠใซๆ‹กๅคงใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใ€‚็œผ็—‡็ŠถใŒๅผทใ„ๅ ดๅˆใซใฏใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ่ฆ–ๅŠ›ใฎไฝŽไธ‹ใ‚„ๅคฑๆ˜ŽใชใฉใฎๅพŒ้บ็—‡ใŒๆฎ‹ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซ่จบๆ–ญใ—ใฆ้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้–‹ๅง‹ใ—ใชใ„ใจ็”Ÿๅ‘ฝใซ้–ขใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200643NANDO:2201006
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_11_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_09_014_01.pdf
rdfs:label - "polycythaemia vera" + "Stevens-Johnson syndrome" @en
rdfs:label - "็œŸๆ€งๅคš่ก€็—‡" + "ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2875http://nanbyodata.jp/ontology/NANDO_1200245
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_11_021/https://www.shouman.jp/disease/details/14_09_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100186http://nanbyodata.jp/ontology/NANDO_2100290
skos:altLabel - "PV" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009891http://purl.obolibrary.org/obo/MONDO_0018229
skos:prefLabel - "็œŸๆ€งๅคš่ก€็—‡" + "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200644 +
http://nanbyodata.jp/ontology/NANDO_2201007 (rdf:type owl:Class @@ -136449,62 +196238,79 @@

hasNotificationNumber9
- dcterms:description - "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber3
dcterms:identifier2200644NANDO:2201007
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_12_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_09_014_01.pdf
rdfs:label - "familial polycythaemia" + "Toxic epidermal necrolysis" @en
rdfs:label - "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" + "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_12_022/http://nanbyodata.jp/ontology/NANDO_1200246
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_09_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100187http://nanbyodata.jp/ontology/NANDO_2201006
+ skos:altLabel + "TEN" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019810
skos:prefLabel - "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡" + "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" @ja
- - + - - + + - + - + + "ใใ‚‡ใ†ใ‹ใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200645 +
http://nanbyodata.jp/ontology/NANDO_2201008 (rdf:type owl:Class @@ -136512,72 +196318,74 @@

hasNotificationNumber16hasNotificationNumber1
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œ่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆœฌ็—‡ใฏprimary immune thrombocytopenia๏ผˆไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅŽŸๅ› ็–พๆ‚ฃใซๅˆไฝตใ—ใŸ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏsecondary immune thrombocytopenia๏ผˆไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้‡็ฏคๅ‡บ่ก€ใฏ็จ€ใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฏๅทจๆ ธ็ƒใฎๅข—ๅŠ ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ITPใฎ่จบๆ–ญใฏ้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ็–พๆ‚ฃใ‚„่–ฌๅ‰คใฎ้–ขไธŽใ‚’้‘‘ๅˆฅใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ฮผLๆœชๆบ€ใงใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€ๅทจๆ ธ็ƒใฎๆˆ็†Ÿ้šœๅฎณใ‚„็ดฐ่ƒžๅ‚ทๅฎณใ‚’็”Ÿใ˜ใฆใŠใ‚Šใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค(Thoracic insufficiency syndrome)ใฏใ€ๅฐๅ…ใฎๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š่ƒธ้ƒญ๏ผˆๆจช้š”่†œใ€่„ŠๆŸฑใ‚’ๅซใ‚€๏ผ‰ใฎๆˆ้•ท้šœๅฎณใจใใ‚Œใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ๅฝขๆ…‹็•ฐๅธธใซใ‚ˆใ‚Šๆญฃๅธธใช่‚บใฎๆˆ้•ทใŒๅฆจใ’ใ‚‰ใ‚Œใ€ๅ‘ผๅธๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใŸ็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ็‰นๅพดใฏใ€่จบๆ–ญๆ™‚ๅ…จใๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใชใใฆใ‚‚ใใ‚ŒไปฅๅพŒใฎๆˆ้•ท้šœๅฎณใซใ‚ˆใ‚Šๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ“ใจใŒไบˆๆƒณใงใใ‚‹็—…ๆ…‹ใซใฏ้šœๅฎณ็™บ็”Ÿไปฅๅ‰ใงใ‚‚่จบๆ–ญใ‚’ใคใ‘ใ‚‹ใ“ใจใŒใงใใ‚‹็‚นใงใ‚ใ‚‹ใ€‚ใ“ใฎ็‚นใŒๅ…จใไป–ใฎ็–พๆ‚ฃ็พคใจใฏ็•ฐใชใ‚‹็‚นใงใ‚ใ‚Šใ€ใใฎ็†็”ฑใจใ—ใฆ่„ŠๆŸฑใƒป่ƒธ้ƒญใฎๅค‰ๅฝขใ‚„ๆˆ้•ท้šœๅฎณใฏไธ€ๆ—ฆ้ซ˜ๅบฆใซๆ‚ชๅŒ–ใ™ใ‚‹ใจใ€ไพ‹ใˆๆ‰‹่ก“ใ‚’ใ—ใฆใ‚‚ๆฉŸ่ƒฝ้šœๅฎณใŒๆ”นๅ–„ใ™ใ‚‹ใ“ใจใŒใปใจใ‚“ใฉไธๅฏ่ƒฝใซใชใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€ๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซ่ƒธ้ƒญใ‚’ๅฝขๆˆใ™ใ‚‹่‚‹้ชจใ€่„ŠๆŸฑใฎ้ชจๆ€ง่ฆ็ด ใจ่ƒธ้ƒญๆฉŸ่ƒฝใซ้–ขไธŽใ™ใ‚‹ๆจช้š”่†œใ€่‚‹้–“็ญ‹ใ€ไฝ“ๅนน็ญ‹๏ผˆ่ตท็ซ‹็ญ‹๏ผ‰ใ€ใใ—ใฆใใ‚Œใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใ™ใ‚‹็ฅž็ตŒๆฉŸ่ƒฝใฎใฉใ“ใซ้šœๅฎณใŒ็”Ÿใ˜ใฆใ‚‚็”Ÿใ˜ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200645NANDO:2201008
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_13_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_01_001_01.pdf
rdfs:label - "immune thrombocytopenic purpura" + "Thoracic insufficiency syndrome" @en
rdfs:label - "ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1528 + rdfs:label + "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_13_023/https://www.shouman.jp/disease/details/15_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100188http://nanbyodata.jp/ontology/NANDO_2100292
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008558http://purl.obolibrary.org/obo/MONDO_0015929
skos:prefLabel - "ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "Achondroplasia" + @en + "ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200646 +
http://nanbyodata.jp/ontology/NANDO_2201009 (rdf:type owl:Class @@ -136585,62 +196393,84 @@

hasNotificationNumber17hasNotificationNumber13
dcterms:description - "ๆœฌ็ดฐๅˆ†้กž24ใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏๅŽŸๅ› ็–พๆ‚ฃใฎๅˆไฝต็—‡ใ€ใ‚ใ‚‹ใ„ใฏไธ€็—‡็Šถใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใงใ€่‡จๅบŠๅƒใฏๅ€‹ๅˆฅใฎๅŽŸๅ› ็–พๆ‚ฃใซใ‚ˆใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใฎ้™คๅค–่จบๆ–ญใซใ‚ˆใ‚‹็ดฐๅˆ†้กž23ใ€Œๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆITP๏ผ‰ใ€ใŒ่ก€ๅฐๆฟใซ้™ๅฎšใ—ใŸ่ก€็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใฎใซๅฏพใ—ใฆใ€ๆœฌ็ดฐๅˆ†้กžใฎ็–พๆ‚ฃใฏ่ก€ๅฐๆฟๆธ›ๅฐ‘ใฎใฟใชใ‚‰ใšไป–ใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚„ๅ…็–ซ็•ฐๅธธใ‚’ไผดใ„ใ€ๅ‡บ่ก€็—‡็ŠถใซๅŠ ใˆใฆๅ€‹ใ€…ใฎๅŽŸๅ› ็–พๆ‚ฃใซ็‰นๆœ‰ใชๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆไบŒๆฌกๆ€งITP๏ผ‰ใฏใ€ๅ…็–ซ็•ฐๅธธใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ€ใ—ใฐใ—ใฐๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚‹่ก€ๆถฒๅ…็–ซ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใจใ—ใฆใฏ่† ๅŽŸ็—…ใ€ๅ…็–ซไธๅ…จ็—‡ใ€ใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ใƒ”ใƒญใƒชๆ„ŸๆŸ“ใ€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„็งปๆคๅพŒๅˆไฝต็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ๆฏๅญ้–“ใซใŠใ‘ใ‚‹่ก€ๅฐๆฟๆŠ—ๅŽŸใ‚„HLAๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹ๆฏ่ฆชใฎๅŒ็จฎๆŠ—ไฝ“ใŒ็ตŒ่ƒŽ็›ค็š„ใซๅ…ใซ็งป่กŒใ™ใ‚‹ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚„ITPๅˆไฝตๆฏไฝ“ใฎๅ‡บ็”Ÿๅ…ใงใฏไธ€้Žๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚ใพใŸใ€ๅฐๅ…ใซใŠใ„ใฆใฏ้žๅ…็–ซๅญฆ็š„็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใŒ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‚‚ใ—ใฐใ—ใฐ็ตŒ้จ“ใ•ใ‚Œใ‚‹ใ€‚้žๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’็”Ÿใ˜ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใซใฏใ€่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟ็—‡ใ€่ก€็ฎก่…ซใซไผดใ†ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" + "ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎ่‘—ใ—ใ„ไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ข็Ÿญ็ธฎใฏ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใใ‚ใ‚‰ใ‚ใ‚Œใ‚‹ใ€‚ใ“ใฎใปใ‹ใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ่„ณ้ ญ่“‹ใŒ็›ธๅฏพ็š„ใซๅคงใใ„ใ€ๅ‰้ก้ƒจใฎ็ชๅ‡บใ€้ผปๆ น้ƒจใฎ้™ฅๅ‡นใ€้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆใ€ไธ‹้กŽใŒ็›ธๅฏพ็š„ใซ็ชๅ‡บ๏ผ‰ใ€ไธ‰ๅฐ–ๆ‰‹๏ผˆๆŒ‡ใฏ็Ÿญใใ€ไผธใฐใ™ใจไธญๆŒ‡ใจ่–ฌๆŒ‡ใฎ้–“ใŒ้›ขใ‚Œใ‚‹๏ผ‰ใ€ไธ‹้ƒจ่…ฐๆคŽใฎๅ‰ๅฝŽใŒๅผทใ„ใŸใ‚ใฎ่‡€้ƒจใฎๅพŒๆ–น็ชๅ‡บใŒ่บซไฝ“็š„ใช็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปฝ็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200646NANDO:2201009
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_13_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_002_01.pdf
rdfs:label - "23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" - @ja
rdfs:label - "Other thrombocytopenic purpura" - @en
+ rdfs:label + "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_13_024/http://nanbyodata.jp/ontology/NANDO_1200877
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100188http://nanbyodata.jp/ontology/NANDO_2100293
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007037
skos:prefLabel - "23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200647 +
http://nanbyodata.jp/ontology/NANDO_2201010 (rdf:type owl:Class @@ -136648,55 +196478,84 @@

hasNotificationNumber17hasNotificationNumber12
+ dcterms:description + "่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใ„ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซไผผใŸใƒฌใƒณใƒˆใ‚ฒใƒณๆ‰€่ฆ‹ใ‚’ใ—ใ‚ใ™ใŒใ€็จ‹ๅบฆใฏ่ปฝใๆญฃๅธธใซ่ฟ‘ใ„ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ้‡็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2200647NANDO:2201010
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_13_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_003_01.pdf
rdfs:label - "neonatal alloimmune thrombocytopenia" + "Hypochondroplasia" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ใชใ‚“ใ“ใคใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ปŸ้ชจไฝŽๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_13_024/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=786
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02068
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200646http://nanbyodata.jp/ontology/NANDO_2100293
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007793
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "่ปŸ้ชจไฝŽๅฝขๆˆ็—‡" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200648 +
http://nanbyodata.jp/ontology/NANDO_2201011 (rdf:type owl:Class @@ -136704,60 +196563,79 @@

hasNotificationNumber17hasNotificationNumber3
+ dcterms:description + "้ชจๅฝขๆˆไธๅ…จ็—‡ใจใฏ๏ผŒๆ˜“้ชจๆŠ˜ๆ€ง๏ผŒ้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใชใฉใฎ้ชจ่„†ๅผฑๆ€ง็—‡็ŠถใซๅŠ ใˆ๏ผŒๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ" + @ja
dcterms:identifier2200648NANDO:2201011
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_13_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_004_01.pdf
rdfs:label - "Heparin-induced thrombocytopenia" + "Osteogenesis imperfecta" @en
rdfs:label - "ใธใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ใ“ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_13_024/http://nanbyodata.jp/ontology/NANDO_1200873
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200646http://nanbyodata.jp/ontology/NANDO_2100293
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018048http://purl.obolibrary.org/obo/MONDO_0019019
skos:prefLabel - "ใธใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "้ชจๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200649 +
http://nanbyodata.jp/ontology/NANDO_2201012 (rdf:type owl:Class @@ -136765,72 +196643,79 @@

hasNotificationNumber18hasNotificationNumber8
dcterms:description - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…(thrombotic thrombocytopenic purpura: TTP)ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็ดฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(microangiopathic hemolytic anemia:MAHA)ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่…Ž้šœๅฎณใ€็™บ็†ฑใ€ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใฎๅคๅ…ธ็š„5ๅพดๅ€™๏ผˆๆ–‡็Œฎ1๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ๅ…จ่บซใฎๅพฎๅฐ่ก€็ฎกใซ่ก€ๅฐๆฟ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚5ๅพดๅ€™ใŒใ™ในใฆๆƒใ†ใ“ใจใฏTTPใฎ็—…ๆœŸใŒ้€ฒ่กŒใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ๆœ€่ฟ‘ใงใฏไป–ใซๅŽŸๅ› ใฎใชใ„่ก€ๅฐๆฟๆธ›ๅฐ‘ใจMAHAใฎๅญ˜ๅœจใงๆœฌ็–พๆ‚ฃใ‚’็–‘ใ†ใ“ใจใŒ้‡่ฆใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผˆๆ–‡็Œฎ2,3๏ผ‰ใ€‚TTPใฎใปใจใ‚“ใฉใŒๅพŒๅคฉๆ€งใงใ‚ใ‚‹ใŒใ€ๅ…ˆๅคฉๆ€งTTP๏ผˆUpshaw-Schulman็—‡ๅ€™็พค๏ผšUSS๏ผ‰ใงใฏใ€MAHAใŒๆ˜Žใ‚‰ใ‹ใงใฏใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใฎใง่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒๆœ€ใ‚‚้‡่ฆใชๆŒ‡ๆจ™ใจใชใ‚‹ใ€‚ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏใ€ใƒ•ใ‚ฉใƒณใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆVWF๏ผ‰ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13)ๆดปๆ€ง่‘—ๆธ›ใง่จบๆ–ญใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹๏ผˆๆ–‡็Œฎ4,5๏ผ‰ใ€‚" + "็ต„็น”้ž็‰น็•ฐ็š„ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰้บไผๅญใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š้ชจใฎ็Ÿณ็ฐๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใพใŸใฏๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‡็—‡ๅบฆใ€็™บ็—‡ๆ™‚ๆœŸใชใฉใซใ‚ˆใ‚Šใ€6็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽๅ‘จ็”ฃๆœŸ้‡็—‡ๅž‹ใ€€ๆœ€ใ‚‚้‡็—‡ใช็—…ๅž‹ใงใ€ๅ‡บ็”Ÿๆ™‚ใซๅ››่‚ข็Ÿญ็ธฎใ€้ ญๅ›ฒใฎ็›ธๅฏพ็š„ๆ‹กๅคงใ€็‹ญใ„่ƒธ้ƒญใ‚’่ชใ‚ใ‚‹ใ€‚X็ทšใงใ€ๅ…จ่บซ้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€้•ท็ฎก้ชจใฎๅค‰ๅฝขใ€ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚๏ผ’๏ผŽๅ‘จ็”ฃๆœŸ่ปฝ็—‡ๅž‹๏ผš้ชจๅค‰ๅฝขใชใฉใ‹ใ‚‰่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡็—‡ไพ‹ใฎใชใ‹ใซใ€่‰ฏๅฅฝใช้ชจ็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝใช็—…ๅž‹ใ€‚ๆ—ฅๆœฌไบบไพ‹ใงใฏใ€ALP้บไผๅญF310Lใจใฎ้–ข้€ฃใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ“๏ผŽไนณๅ…ๅž‹๏ผšใ€€็”ŸๅพŒ6ใ‹ๆœˆใพใงใซ็™บ็—‡ใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๅž‹ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽๅฐๅ…ๅž‹๏ผšๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง้‡็—‡ๅบฆใฏใ•ใพใ–ใพใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸๅ–ชๅคฑใ‚’ไผดใ†ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚๏ผ•๏ผŽๆˆไบบๅž‹๏ผšๆˆไบบๆœŸใŠใ‚‚ใซไธญๅนดๆœŸใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง็—…็š„้ชจๆŠ˜ใ€้ชจ็—›ใซใ‚ˆใฃใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚๏ผ–๏ผŽๆญฏ้™ๅฑ€ๅž‹๏ผš้ชจใซ็—…ๅค‰ใŒ้™ๅฑ€ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸ่„ฑ่ฝใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200649NANDO:2201012
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_14_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_005_01.pdf
rdfs:label - "thrombotic thrombocytopenic purpura" + "Hypophosphatasia" @en
rdfs:label - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ใฆใ„ใปใ™ใตใใŸใƒผใœใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00225http://nanbyodata.jp/ontology/NANDO_1200656
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_14_025/https://www.shouman.jp/disease/details/15_02_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100189http://nanbyodata.jp/ontology/NANDO_2100293
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018896http://purl.obolibrary.org/obo/MONDO_0018570
skos:prefLabel - "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…" + "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200650 +
http://nanbyodata.jp/ontology/NANDO_2201013 (rdf:type owl:Class @@ -136838,67 +196723,79 @@

hasNotificationNumber15hasNotificationNumber6
dcterms:description - "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€ใ‚ใ‚‰ใ‚†ใ‚‹ๅŽŸๅ› ใฎ่„พ่…ซใง่ช˜็™บใ•ใ‚Œใ‚‹ไบŒๆฌก็š„ใช็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใชใฉใฎ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’ไผดใ†ใ€‚่„พ่…ซใ‚’ๆฅใ™็–พๆ‚ฃใจใ—ใฆใฏใ€ใ†ใฃ่ก€ๆ€ง่„พ่…ซใ€ๆ„ŸๆŸ“็—‡ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่“„็ฉ็—‡ใ€่„พๅšข่ƒžใชใฉใŒใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€่ก€ๅฐๆฟๆ•ฐใŒ๏ผ‘๏ผไธ‡/ฮผlๆœชๆบ€ใฎๅ ดๅˆใ€่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆ็™ฝ่ก€็—…ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉ๏ผ‰ใงใฏใ€็–พๆ‚ฃ่‡ชไฝ“ใซใ‚ˆใ‚‹้ชจ้ซ„ๆŠ‘ๅˆถไฝœ็”จใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚‚ๆฅใŸใ™ใŸใ‚ใ€ใ€Œ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ใจใ™ใ‚‹ใ“ใจใฏใ€ๆ…Ž้‡ใซๅˆคๆ–ญใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" + "ๅ…จ่บซใฎ้ชจ็กฌๅŒ–ใ€้€ ่ก€่ƒฝ้šœๅฎณใ€ๆ˜“้ชจๆŠ˜ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๆ—ฉ็™บๅž‹ใ€้…็™บๅž‹ใ€ไธญ้–“ๅž‹ใ€่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹ใฎ4็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚๏ผ‘๏ผŽๆ—ฉ็™บๅž‹๏ผšๅ‡บ็”Ÿๆ™‚ใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅคงๅŠใŒๅญฆ็ซฅๆœŸใพใงใซๆญปไบกใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ้‡็—‡ๅž‹ใ€‚่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซๅคงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ ญ่“‹้ชจใฎ็กฌๅŒ–ใ€ๅค‰ๅฝขใ€่ฆ–ๅŠ›่ดๅŠ›ใฎ้šœๅฎณใ€็ฒพ็ฅž็™บ้”้šœๅฎณใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ’๏ผŽ้…็™บๅž‹๏ผšๅ˜็ด”X็ทšใ‚’ๆ’ฎๅฝฑใ—ใŸ้š›ใซใ€ๅถ็„ถใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹่‰ฏๆ€งๅž‹ใงใ‚ใ‚‹ใ€‚่ฒง่ก€ใ€่‚่„พ่…ซใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ้šœๅฎณใฏๅฐ‘ใชใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ“๏ผŽไธญ้–“ๅž‹๏ผšๆ—ฉ็™บๅž‹ใจ้…็™บๅž‹ใฎไธญ้–“ใฎใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽ่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹๏ผš่…Žๅฐฟ็ดฐ็ฎกใชใฉใซ็™บ่จ€ใ—ใฆใ„ใ‚‹็‚ญ้…ธ่„ฑๆฐด้…ต็ด โ…กๅž‹ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200650NANDO:2201013
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_15_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_006_01.pdf
rdfs:label - "thrombocytopenia due to hypersplenism" + "Osteopetrosis" @en
rdfs:label - "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ใ ใ„ใ‚Šใ›ใใ“ใคใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคง็†็Ÿณ้ชจ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00978http://nanbyodata.jp/ontology/NANDO_1200998
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_15_026/https://www.shouman.jp/disease/details/15_02_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100190http://nanbyodata.jp/ontology/NANDO_2100293
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017198
skos:prefLabel - "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ๅคง็†็Ÿณ้ชจ็—…" @ja
- - + - - + + - + - + - - - - + "ใŸใฏใคใ›ใ„ใชใ‚“ใ“ใคใ›ใ„ใŒใ„ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200651 +
http://nanbyodata.jp/ontology/NANDO_2201014 (rdf:type owl:Class @@ -136906,84 +196803,81 @@

hasNotificationNumber41hasNotificationNumber7
dcterms:description - "ๆœฌ็—‡ๅ€™็พคใฏใ€้€ ่ก€็ดฐ่ƒžใฎๅˆ†ๅŒ–ใƒปๅข—ๆฎ–ใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚Œใ€้ชจ้ซ„ใงใฎๅ˜ไธ€่ก€็ƒ็ณป็ตฑใชใ„ใ—ไธ‰่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœๆœซๆขข่ก€ใงใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€้€ ่ก€้šœๅฎณไปฅๅค–ใซ็‰นๅพด็š„ใชๅค–่กจๅฅ‡ๅฝขใ‚„ๆ‰€่ฆ‹ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใ€ๅคšใใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚ŒใฆใใŸใŒใ€้บไผ็š„่ƒŒๆ™ฏใŒ็–‘ใ‚ใ‚ŒใชใŒใ‚‰่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚1)ใ€€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใซใฏใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ (FA)ใ€ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡(DC)ใ€ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค (SDS)ใ€ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ (CAMT)ใ€ใƒ”ใ‚ขใ‚ฝใƒณ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€ๅ˜ไธ€็ณป็ตฑ่ก€็ƒๆธ›ๅฐ‘็—‡ใฏใ€่ตค่ก€็ƒ็ณปใงใฏใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€๏ผˆDBA๏ผ‰ใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(CDA)ใ€ๅฅฝไธญ็ƒ็ณปใงใฏๅ…ˆๅคฉๆ€ง้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ (SCN)ใ€ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ€่ก€ๅฐๆฟ็ณปใงใฏ้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซ็งป่กŒๅ‚พๅ‘ใ‚’ๆœ‰ใ™ใ‚‹ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆFPD๏ผ‰ใ€ๆ’“้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใชใฉใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅค–้ชจ่…ซ๏ผˆ้ชจ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ๅค–้ชจ่…ซใฏๆˆ้•ทใจใจใ‚‚ใซๅคงใใใชใ‚Šใ€็šฎไธ‹่…ซ็˜คใจใ—ใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚่…ซ็˜ใฏๅทฆๅณๅฏพ็งฐๆ€งใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒๅคšใใ€ ่†ๅ‘จๅ›ฒใฎๅคง่…ฟ้ชจ้ ไฝใŠใ‚ˆใณ่„›้ชจ่ฟ‘ไฝใซๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๅค–้ชจ่…ซใฎๅคšใใฏ้ชจๅนน็ซฏใซ่…ซ็˜คใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใ€ ้–ข็ฏ€่ฟ‘ๅ‚ใฎ่…ซ็˜คใซใ‚ˆใ‚Š้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€้ชจ็ซฏๆˆ้•ท้šœๅฎณใ‚’ใใŸใ™็ตๆžœใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ Langer-Giedion็—‡ไพฏ็พคใฏๆฏ›้ซช้ผปๆŒ‡็ฏ€็•ฐๅฝขๆˆ็—‡2ๅž‹ใงใ€ๅคš็™บๆ€งๅค–้ชจ่…ซใ‚’ไธป็—‡็Šถใซๅซใฟใ€EXT1ๅ–ชๅคฑใ‚’ๅซใ‚€้บไผๅญๆฌ ๅคฑใ‚’็คบใ™ใŸใ‚ๆœฌ็–พๆ‚ฃใซๅซใ‚ใ‚‹ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ ็จ€ใซๅค–้ชจ่…ซใŒๆ‚ชๆ€งๅŒ–๏ผˆ่ปŸ้ชจ่‚‰่…ซใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผ‰ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200651NANDO:2201014
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_16_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_007_01.pdf
rdfs:label - "Congenital amegakaryocytic thrombocytopenia" + "Multiple cartilaginous exostosis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4269
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00227 + rdfs:label + "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_16_027/https://www.shouman.jp/disease/details/15_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100191http://nanbyodata.jp/ontology/NANDO_2100293
skos:altLabel - "CAMT" + "Hereditary multiple exostosis" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011469http://purl.obolibrary.org/obo/MONDO_0005508
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + "Dyschondroplasia" + @en + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200652 +
http://nanbyodata.jp/ontology/NANDO_2201015 (rdf:type owl:Class @@ -136991,74 +196885,105 @@

hasNotificationNumber42hasNotificationNumber11
dcterms:description - "ๆœฌ็—‡ๅ€™็พคใฏใ€้€ ่ก€็ดฐ่ƒžใฎๅˆ†ๅŒ–ใƒปๅข—ๆฎ–ใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚Œใ€้ชจ้ซ„ใงใฎๅ˜ไธ€่ก€็ƒ็ณป็ตฑใชใ„ใ—ไธ‰่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœๆœซๆขข่ก€ใงใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€้€ ่ก€้šœๅฎณไปฅๅค–ใซ็‰นๅพด็š„ใชๅค–่กจๅฅ‡ๅฝขใ‚„ๆ‰€่ฆ‹ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใ€ๅคšใใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚ŒใฆใใŸใŒใ€้บไผ็š„่ƒŒๆ™ฏใŒ็–‘ใ‚ใ‚ŒใชใŒใ‚‰่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚1)ใ€€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใซใฏใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ (FA)ใ€ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡(DC)ใ€ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค (SDS)ใ€ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ (CAMT)ใ€ใƒ”ใ‚ขใ‚ฝใƒณ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€ๅ˜ไธ€็ณป็ตฑ่ก€็ƒๆธ›ๅฐ‘็—‡ใฏใ€่ตค่ก€็ƒ็ณปใงใฏใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€๏ผˆDBA๏ผ‰ใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(CDA)ใ€ๅฅฝไธญ็ƒ็ณปใงใฏๅ…ˆๅคฉๆ€ง้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ (SCN)ใ€ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ€่ก€ๅฐๆฟ็ณปใงใฏ้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซ็งป่กŒๅ‚พๅ‘ใ‚’ๆœ‰ใ™ใ‚‹ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆFPD๏ผ‰ใ€ๆ’“้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใชใฉใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚" + "ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅ†…่ปŸ้ชจ่…ซ๏ผˆ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๆ€งใซ่…ซ็˜ใŒๅคš็™บใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ ไธกๅดๆ€งใ‚ใ‚‹ใ„ใฏไบคๅ‰ๆ€งใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใฏ็Ÿญ็ฎก้ชจใซๅฅฝ็™บใ™ใ‚‹ใŒใ€้•ท็ฎก้ชจใ€่‚‹้ชจใ€้ชจ็›คใชใฉใฎ้ ปๅบฆใ‚‚้ซ˜ใ„ใ€‚ ๆˆ้•ทๆœŸใซ็ทฉๅพใซๅข—ๅคงใ—ใฆใ€้€ฒ่กŒๆ€งใซ้ชจใฎ่†จ้š†ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใŒๆˆ้•ท่ปŸ้ชจๆฟใฎ็™บ่‚ฒใ‚’ๅฆจใ’ใ‚‹ใŸใ‚ใ€็ฝนๆ‚ฃ้ƒจไฝใฎๅค‰ๅฝขใ‚„็Ÿญ็ธฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ ๆฉŸ่ƒฝ็š„ใซใฏ้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€่‘—ใ—ใ„ๆˆ้•ท้šœๅฎณใงใฎ่„š้•ทไธ็ญ‰ใ‚„ใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚ ้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚่ก€็ฎก่…ซใ‚’ไผดใ†ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏMaffucci็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ ๆˆไบบๆœŸไปฅ้™ใซ่ปŸ้ชจ่‚‰่…ซใชใฉใธๆ‚ชๆ€งๅŒ–ใ™ใ‚‹ๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200652NANDO:2201015
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_16_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_008_01.pdf
rdfs:label - "Fanconi anaemia" + "Enchondromatosis" @en
rdfs:label - "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" + "ใชใ„ใชใ‚“ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ†…่ปŸ้ชจ่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00238http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1133
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_16_028/https://www.shouman.jp/disease/details/15_02_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100191http://nanbyodata.jp/ontology/NANDO_2100293
skos:altLabel - "Fanconi่ฒง่ก€" - @ja
+ skos:altLabel + "Ollier disease" + @en
+ skos:altLabel + "Osteochondromatosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005508
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008145
skos:prefLabel - "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€" + "ๅ†…่ปŸ้ชจ่…ซ็—‡" @ja
- - + - - + + - + - + + "2ใŒใŸใ“ใ‚‰ใƒผใ’ใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“" + @ja-Hira - - + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200653 +
http://nanbyodata.jp/ontology/NANDO_2201016 (rdf:type owl:Class @@ -137066,72 +196991,84 @@

hasNotificationNumber24hasNotificationNumber14
dcterms:description - "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจๆญฃๅธธ่ก€ๅฐๆฟๆ•ฐใธใฎๅ›žๅพฉใŒไธ€ๅฎšใฎๅ‘จๆœŸใง็นฐใ‚Š่ฟ”ใ•ใ‚Œใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎๅ‘จๆœŸๅฝขๆˆใฎๆฉŸๅบใจใ—ใฆใ€๏ผˆ1๏ผ‰ๅทจๆ ธ็ƒใฎ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ2๏ผ‰ๅทจๆ ธ็ƒๅ†…ใงใฎ่ก€ๅฐๆฟ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ3๏ผ‰่ก€ๅฐๆฟใฎ็ ดๅฃŠใฎๅค‰ๅ‹•ใ€ใŒๆŽจๅฏŸใ•ใ‚Œๆˆๅ› ใฎๅคšๆง˜ๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚" + "ๅคšใใฏ2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ๏ผˆCOL2A1๏ผ‰้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€X็ทš็š„ใซๅ…ฑ้€šใ—ใŸๆ‰€่ฆ‹ใŒใ‚ใ‚‹ๅคšๅฝฉใช่‡จๅบŠ่กจ็พๅž‹ใ‚’็คบใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ ่ƒŽๅ…ๆœŸใ‚„ๅ‡บ็”Ÿ็›ดๅพŒใซๅ‘จ็”ฃๆœŸๆญปไบกใ‚’่ตทใ“ใ™้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ๅฐๅ…ๆœŸไปฅ้™ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ไพ‹ใพใงๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่ปŸ้ชจๅŸบ่ณชใ‚’ๅฝขๆˆใ™ใ‚‹2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ้šœๅฎณใ•ใ‚Œๅ››่‚ขใ€ไฝ“ๅนนใจใ‚‚ใซ็Ÿญ็ธฎใ™ใ‚‹ใ€‚้–ข็ฏ€่ปŸ้ชจใ‚„ๆคŽ้–“ๆฟใฎๅŸบ่ณชใ‚‚ไพตใ•ใ‚Œใ‚‹ใŸใ‚ใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€๏ผˆ่„ŠๆคŽ๏ผ‰็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใพใŸใฏ็ช็„ถๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆคŽไฝ“ใ‚„้•ท็ฎก้ชจใฎ็•ฐๅธธใ‚„้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆ๏ผˆๅนณๅฆใช้ก”่ฒŒ๏ผ‰ใ€ ๅฐ้กŽ็—‡ใ‚’ๅ…ฑ้€šใฎ็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ…จ่บซ้ชจX็ทšไธŠใ€่„ŠๆคŽใƒป้ชจ็ซฏ็•ฐๅฝขๆˆใ‚’็‰นๅพดใจใ—ใ€ๅˆไฝต็—‡ใจใ—ใฆใ—ใฐใ—ใฐ้€ฒ่กŒๆ€ง่ฟ‘่ฆ–ใƒป้›ฃ่ดใƒปUๅญ—ๅž‹ใฎๅฃ่“‹่ฃ‚ใ‚’ไผดใ†ใ€‚" @ja
dcterms:identifier2200653NANDO:2201016
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_17_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "cyclic thrombocytopenia" - @en
rdfs:label - "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1526 + rdfs:label + "Type II collagenopathy" + @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_17_029/https://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100192http://nanbyodata.jp/ontology/NANDO_2100293
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015627
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016068
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008556http://purl.obolibrary.org/obo/MONDO_0022800
skos:prefLabel - "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ" @ja
- - + - - + + - + - + + + + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200654 +
http://nanbyodata.jp/ontology/NANDO_2201017 (rdf:type owl:Class @@ -137139,69 +197076,74 @@

hasNotificationNumber51hasNotificationNumber10
dcterms:description - "ๆœฌ็–พๆ‚ฃใฏใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธญใงๅทจๅคง่ก€ๅฐๆฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธใ€ใ‚ปใƒใ‚นใƒใƒฃใƒณ๏ผˆSebastian๏ผ‰็—‡ๅ€™็พคใ€ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ๏ผˆFechtner๏ผ‰็—‡ๅ€™็พคใ€ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEpstein๏ผ‰็—‡ๅ€™็พคใจๅˆฅใ€…ใซๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸ้กž็ธ็–พๆ‚ฃใŒใ€ๅŒไธ€ใฎ้บไผๅญ๏ผˆMYH9้บไผๅญ๏ผ‰็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใ“ใ‚Œใ‚‰ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆœฌ็–พๆ‚ฃใŒๆๅ”ฑใ•ใ‚ŒใŸ๏ผˆใคใพใ‚Šใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธใฏใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ใซๅŒ…ๅซใ•ใ‚Œใ‚‹1็—…ๅž‹ใจใชใ‚‹๏ผ‰ใ€‚ๅŒ็พฉใงใ€MYH9็•ฐๅธธ็—‡ใจใ„ใ†็–พๆ‚ฃๅใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๅ…ทไฝ“็š„ใชๅฎš็พฉใจใ—ใฆใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€ๅทจๅคง่ก€ๅฐๆฟ็—‡ใŒใฟใ‚‰ใ‚Œใ€MYH9้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ๅ ดๅˆใซใ€ๆœฌ็–พๆ‚ฃใจ่จบๆ–ญใ™ใ‚‹ใ€‚ใใฎไป–ใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌๅƒใงใฎ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“๏ผˆใƒ‡ใƒผใƒฌๆง˜ๅฐไฝ“๏ผšDรถhle-like bodies๏ผ‰ใฎๅญ˜ๅœจใ‚„ใ€่…Ž็‚Žใ€้›ฃ่ดใ€็™ฝๅ†…้šœใจใ„ใฃใŸใ‚ขใƒซใƒใƒผใƒˆ๏ผˆAlport๏ผ‰็—‡็Šถใฏๆœฌ็–พๆ‚ฃใ‚’็คบๅ”†ใ™ใ‚‹ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚ใชใŠใ€ๅทจๅคง่ก€ๅฐๆฟใฎๆญฃๅผใชๅฎš็พฉใฏใชใ„ใŒใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌไธŠใ€ๆฆ‚ใญๆญฃๅธธ่ก€ๅฐๆฟใฎๅคงใใ•ใฎ2ๅ€็จ‹ๅบฆ๏ผˆ็›ดๅพ„4ฮผm๏ผ‰ใฎๅ ดๅˆใซๅคงๅž‹่ก€ๅฐๆฟใ€่ตค่ก€็ƒๅคง๏ผˆ็›ดๅพ„8ฮผm๏ผ‰ไปฅไธŠใฎๅ ดๅˆใซๅทจๅคง่ก€ๅฐๆฟใจๅˆคๅฎšใ™ใ‚‹ใ€‚ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—‡๏ผˆITP๏ผ‰ใงใ‚‚ๅคงๅž‹่ก€ๅฐๆฟใฏใ—ใฐใ—ใฐ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€ๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๆญฃๅธธๅคงใงใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€งๅทจๅคง่ก€ๅฐๆฟ็—‡ใงใฏๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๅคงๅž‹ใ‚ใ‚‹ใ„ใฏๅทจๅคงใงใ‚ใ‚Šใ€ๆญฃๅธธๅคง่ก€ๅฐๆฟใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ไปฅไธ‹ใซใ€ใ“ใ‚Œใพใงไฝฟ็”จใ•ใ‚ŒใฆใใŸ็–พๆ‚ฃๅใฎใใ‚Œใžใ‚Œใฎ่‡จๅบŠ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ๏ผšๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใ‚ปใƒใ‚นใƒใƒฃใƒณ็—‡ๅ€™็พค๏ผšใ‚„ใ‚„ไธๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถ๏ผˆ่…Ž็‚Žใƒป้›ฃ่ดใƒป็™ฝๅ†…้šœ๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถใ‚’่ชใ‚ใ‚‹ใŒใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฏๅŒๅฎšๅ›ฐ้›ฃ" + "้ชจ็ซฏ่ปŸ้ชจใจใใฎๅ‘จๅ›ฒ่ปŸ้ƒจ็ต„็น”ใฎ็‚น็Šถ็Ÿณ็ฐๅŒ–ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅคšใใฎ็–พๆ‚ฃใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ XๆŸ“่‰ฒไฝ“ๅ„ชๆ€งConradi-Hรผnermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX2๏ผ‰ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX1๏ผ‰ใ€ CHILD็—‡ๅ€™็พค๏ผˆๅ…ˆๅคฉๆ€ง็‰‡ๅด็•ฐๅฝขๆˆใ€้ญš้ฑ—็™ฌใ€ๅ››่‚ขๆฌ ๆ๏ผ‰ใ€Keutel็—‡ๅ€™็พคใ€Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ใ€่ฟ‘ไฝ่‚ขๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€ ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ใ‚’็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ‚ฐใƒซใƒผใƒ—ใจๅฎš็พฉใ—ใ€ CDPX1ใจๅŒๆง˜ใฎๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹ใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใƒฏใƒซใƒ•ใ‚กใƒชใƒณ่ƒŽ่Šฝ็—‡ใ€ใƒ“ใ‚ฟใƒŸใƒณKๆฌ ไน็—‡ใ€ SLE่ƒŽ่Šฝ็—‡ใชใฉใฎ็—‡ๅ€™ๆ€งใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚Š็จฎใ€…ใฎๅคงใใ็•ฐใชใฃใŸ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใงๅˆฅ้€”ๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ใŸใ‚ใ€ๆœฌ็–พ็—…ใ‹ใ‚‰ใฏ้™คใใ€‚" @ja
dcterms:identifier2200654NANDO:2201017
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_18_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "Mayโ€Hegglin anomaly" + "Chondrodysplasia punctata" @en
rdfs:label - "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡" + "ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_18_030/https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100193http://nanbyodata.jp/ontology/NANDO_2100293
- skos:altLabel - "May-Hegglin็•ฐๅธธ็—‡" - @ja + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019701
skos:prefLabel - "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡" + "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200655 +
http://nanbyodata.jp/ontology/NANDO_2201018 (rdf:type owl:Class @@ -137209,72 +197151,84 @@

hasNotificationNumber49hasNotificationNumber2
dcterms:description - "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" + "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ทใ€ไธ‹่‚ขใฎๅค‰ๅฝขใ€็ŸญๆŒ‡ใ€้–ข็ฏ€ๅผ›็ทฉๆ€งใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ็‰นใซ่ฟ‘ไฝ่‚ข็ฏ€ใฎ็Ÿญ็ธฎใŒ็›ฎ็ซ‹ใกใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซ้กžไผผใ—ใŸๅค–่ฆณใ‚’ๅ‘ˆใ—ใฆใ„ใ‚‹ใ“ใจใŒใ€ๆœฌ็—‡ใฎๅ็งฐ็”ฑๆฅใจใชใฃใฆใ„ใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใฏ็•ฐใชใ‚Šใ€้ก”่ฒŒใฏ้€šๅธธใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไฝŽ่บซ้•ทใฏ่‘—ๆ˜Žใงใ€ๆœ€็ต‚่บซ้•ทใฏ่ปฝ็—‡ๅž‹ใง-3๏ฝž-4SDใ€้‡็—‡ๅž‹ใง-6SDไปฅไธ‹ใจใชใ‚‹ใ€‚ ใพใŸใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใฎ็Ÿญ็ธฎใ‚„้–ข็ฏ€ๅผ›็ทฉๆ€งใŒ่‘—ใ—ใ„ใ€‚ๅ››่‚ขใฎๅคง้–ข็ฏ€ใงใ‚‚้–ข็ฏ€ๅผ›็ทฉๆ€งใฏ่‘—ๆ˜Žใงใ€่‘—ใ—ใ„ๅ†…ๅ่†ใพใŸใฏๅค–ๅ่†ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่‚˜้–ข็ฏ€ใ‚„่‚ก้–ข็ฏ€ใงใฏๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๆ—ฉๆœŸ๏ผˆ10ๆญณไปฃๅพŒๅŠใ‹ใ‚‰20ๆญณไปฃ๏ผ‰ใ‹ใ‚‰ไธ‹่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ€ๆ—ฉ็™บใฎๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใ€‚" @ja
dcterms:identifier2200655NANDO:2201018
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_19_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_011_01.pdf
rdfs:label - "essential thrombocythaemia" + "Pseudoachondroplasia" @en
rdfs:label - "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" + "ใŽใ›ใ„ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01612http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1303
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_19_031/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00477
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100194http://nanbyodata.jp/ontology/NANDO_2100293
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005029http://purl.obolibrary.org/obo/MONDO_0008322
skos:prefLabel - "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡" + "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200656 +
http://nanbyodata.jp/ontology/NANDO_2201019 (rdf:type owl:Class @@ -137282,84 +197236,91 @@

hasNotificationNumber13hasNotificationNumber16
dcterms:description - "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + "้ก”่ฒŒ็•ฐๅธธใ‚’ไผดใฃใŸๅคš็™บๆ€งๅ…ˆๅคฉๆ€ง่„ฑ่‡ผใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€1950ๅนดใƒฉใƒผใ‚ปใƒณใซใ‚ˆใ‚Šใฏใ˜ใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ ้–“่‘‰็ณป็ตๅˆ็ต„็น”ใฎๅฝขๆˆ็•ฐๅธธใŒไธปๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ€ๅ…ˆๅคฉๆ€งใƒปๅคš็™บๆ€งใฎ้ชจใŠใ‚ˆใณ้–ข็ฏ€็•ฐๅธธใ‚’ใใŸใ™ใ€‚ ่‡จๅบŠ็š„ใซใฏ้ก”่ฒŒ็•ฐๅธธ๏ผˆๅ‰้ ญ้ƒจ็ชๅ‡บใ€้ก”้ขไธญๅคฎ้ƒจใฎไฝŽๅฝขๆˆ๏ฝค็œผ้–“้–‹้›ขใ€ๅฐ้กŽใชใฉ๏ผ‰ใ€ๅคš็™บ้–ข็ฏ€้šœๅฎณ๏ผˆ่„ฑ่‡ผใ€ๆ‹˜็ธฎ๏ผ‰ใ€ ใธใ‚‰็ŠถใฎๆŒ‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็‰นใซ่‚กใ€่†ใ€่‚˜ใชใฉใฎๅคง้–ข็ฏ€ใฎๅคš็™บ่„ฑ่‡ผใจใ€ใปใผๅฟ…็™บใ™ใ‚‹ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎๅ†…ๅ่ถณใŒๅ•้กŒใจใชใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใฏ้ซ˜้ ปๅบฆใง่ชใ‚ใ€็‰นใซ้ ธๆคŽใฎๅพŒๅผฏใซไผดใ†้ ธ้ซ„็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ ๅฃ่“‹่ฃ‚ใ€ๆฐ—็ฎกใƒปๅ–‰้ ญ่ปŸๅŒ–็—‡ใ€้›ฃ่ดใ€ใชใฉ้ชจๆ ผๅค–ๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚" @ja
dcterms:identifier2200656NANDO:2201019
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_012_01.pdf
rdfs:label - "Bernard-Soulier syndrome" + "Larsen syndrome" @en
rdfs:label - "ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค" + "ใ‚‰ใƒผใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2264http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=868
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00224https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02048
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_032/https://www.shouman.jp/disease/details/15_02_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100195http://nanbyodata.jp/ontology/NANDO_2100293
skos:altLabel - "Bernard-Soulier็—‡ๅ€™็พค" + "Larsen็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009276http://purl.obolibrary.org/obo/MONDO_0007875
skos:prefLabel - "ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค" + "ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200657 +
http://nanbyodata.jp/ontology/NANDO_2201020 (rdf:type owl:Class @@ -137367,72 +197328,89 @@

hasNotificationNumber12hasNotificationNumber5
dcterms:description - "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆfibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ€้–‹ๅฃ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚็—…็Šถใฎ้€ฒ่กŒใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆๆดปๅ‹•๏ผ‰ใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง้ชจๅŒ–ใฏไธปใจใ—ใฆๅฐๅ…ๆœŸใซๅง‹ใพใ‚‹ใ€‚ๆณจๅฐ„ใ‚„ๆ‰‹่ก“ใชใฉใฎๅŒป็™‚่กŒ็‚บใ‚’ๅซใ‚€ๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใจใ—ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—๏ผˆflare-up๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹็‚Ž็—‡ๆ€งใฎ็šฎไธ‹่ปŸ้ƒจ็ต„็น”่…ซ่„นใซๅผ•ใ็ถšใ„ใฆ้ชจๅŒ–ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅค–ๅ‚ทใฎใชใ„ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚„ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚’็ตŒใชใ„้ชจๅŒ–ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚่ถณใฎๆฏ่ถพใซๅ…ˆๅคฉๆ€งใฎๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚Šใ€ใใ‚Œไปฅๅค–ใซใ€ๆ‰‹ใฎๆฏๆŒ‡ใฎไฝŽๅฝขๆˆใ€ๅฐๆŒ‡ใฎๅผฏๆ›ฒใ€้•ท็ฎก้ชจ้ชจๅนน็ซฏ้ƒจใฎๅค–้ชจ่…ซใ€็ฆฟ้ ญใ€่ดๅŠ›้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200657NANDO:2201020
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_013_01.pdf
rdfs:label - "thrombasthenia" + "fibrodysplasia ossificans progressiva" @en
rdfs:label - "่ก€ๅฐๆฟ็„กๅŠ›็—‡" + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ“ใฃใ‹ใ›ใ„ใ›ใ‚“ใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3101http://nanbyodata.jp/ontology/NANDO_1200871
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_033/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=596
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100195http://nanbyodata.jp/ontology/NANDO_2100293
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010119http://purl.obolibrary.org/obo/MONDO_0003964
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007606
skos:prefLabel - "่ก€ๅฐๆฟ็„กๅŠ›็—‡" + "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200658 +
http://nanbyodata.jp/ontology/NANDO_2201021 (rdf:type owl:Class @@ -137440,62 +197418,74 @@

hasNotificationNumber11hasNotificationNumber9
dcterms:description - "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + "ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณ้€้Žๆ€งใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚‹TRPV4 ๏ผˆtransient receptor potential cation channel, subfamily V, member 4๏ผ‰ใฎ ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ€ๅค‰ๅฎนๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Maroteauxๅž‹ใ€่„ŠๆคŽ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Kozlowskiๅž‹ใ€ ็Ÿญไฝ“ๅนน็—‡ใ€็ŸญๆŒ‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€งๆŒ‡้–ข็ฏ€็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใซใŠใ„ใฆใ‚‚ๆ‰ๅนณๆคŽใ€้–ข็ฏ€ใฎ่…ซๅคงใŠใ‚ˆใณๆ‹˜็ธฎใ€ ไฝŽ่บซ้•ทใชใฉใ‚’ๅ…ฑ้€šใฎ่กจ็พๅž‹ใจใ™ใ‚‹ใŒใ€้‡็—‡ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่„ŠๆŸฑใ‚„ๅ››่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขใ‚’ไผดใ„ใ‚„ใ™ใใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚„ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใŸใ‚ใ€ใใ‚Œใ‚‰ใซๅฏพใ™ใ‚‹ๆ•ดๅฝขๅค–็ง‘็š„ใชๅฏพๅฟœใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" @ja
dcterms:identifier2200658NANDO:2201021
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_014_01.pdf
rdfs:label - "Platelet secretion defects" + "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders" @en
rdfs:label - "่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡" + "ใฆใƒใ‚ใƒผใ‚‹ใดใƒผใถใ„4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_034/https://www.shouman.jp/disease/details/15_02_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100195http://nanbyodata.jp/ontology/NANDO_2100293
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018240
skos:prefLabel - "่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡" + "๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡" @ja
- - + - - + + - + - - - - - + - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200659 +
http://nanbyodata.jp/ontology/NANDO_2201022 (rdf:type owl:Class @@ -137503,118 +197493,74 @@

hasNotificationNumber14hasNotificationNumber4
dcterms:description - "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" + "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฏไธปใจใ—ใฆ็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…จ่บซๆ€งใซใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ๆฟƒๅŒ–็•ฐ้ชจ็—‡ใ€้ชจๆ–‘็ด‹็—‡ใ€้ชจ็ทš็Šถ็—‡ใ€ๆต่‹้ชจ็—‡ใ€็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ใ€้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ใ€้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡๏ผˆPyle็—…๏ผ‰ใ€้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ใ€็กฌๅŒ–ๆ€ง้ชจ็—‡ใชใฉใ‚’ๅซใ‚€ใ€‚X็ทšๆ‰€่ฆ‹ใจใ—ใฆใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ€้ชจ่‚ฅๅŽšใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏ้ ญ่“‹ๅ† ใ‚„้ ญ่“‹ๅบ•ใ€ไธ‹้กŽ้ชจใ€ๅ››่‚ข้•ท็ฎก้ชจใ‚„้Ž–้ชจใชใฉใซใ—ใฐใ—ใฐ่ชใ‚ใ‚‹ใ€‚้ชจ็กฌๅŒ–ๆ€ง็—…ๅค‰ใซไผดใ†่„ณ็ฅž็ตŒ้šœๅฎณใ‚„ๆ˜“้ชจๆŠ˜ๆ€งใ€้ชจ้ซ„็‚Žใชใฉใฎ็—‡็Šถใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€‚่„ณ็ฅž็ตŒใฎๅœง่ฟซใ‚’่งฃ้™คใ™ใ‚‹ใŸใ‚ใซใ€ๆ‰‹่ก“ๅŠ ็™‚ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ชจๆŠ˜ๆฒป็™’ใฏๆฅตใ‚ใฆ้…ๅปถใ—ใ€ใ—ใฐใ—ใฐๅฝ้–ข็ฏ€ใซ่‡ณใ‚‹ใ€‚ใพใŸใ€้ชจ้ซ„็‚Žใฏ้ทๅปถๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚" @ja
dcterms:identifier2200659NANDO:2201022
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
- rdfs:label - "33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" - @jahttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Other platelet dysfunction" + "osteosclerotic diseases" @en
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100195
- skos:prefLabel - "33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡" - @ja
- - - - - - - - - - - - - - - - + "ใ“ใคใ“ใ†ใ‹ใ›ใ„ใ—ใฃใ‹ใ‚“" + @ja-Hira - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200660 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber14
- dcterms:identifier2200660
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "Congenital thrombocytopenia with radio- ulnar synostosis" - @en
rdfs:label - "ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659http://nanbyodata.jp/ontology/NANDO_2100293
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002933
skos:prefLabel - "ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ" @ja
- - + - - + + + + + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200661 +
http://nanbyodata.jp/ontology/NANDO_2201023 (rdf:type owl:Class @@ -137622,72 +197568,84 @@

hasNotificationNumber14hasNotificationNumber4
+ dcterms:description + "ใ‚ซใƒ†ใƒ—ใ‚ทใƒณK๏ผˆCTSK๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" + @ja
dcterms:identifier2200661NANDO:2201023
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Thrombocytopenia with absent radii" + "Pycnodysostosis" @en
rdfs:label - "ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ใฎใ†ใ‹ใ„ใ“ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฟƒๅŒ–็•ฐ้ชจ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3103http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2927
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00273
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/
- skos:altLabel - "TAR ็—‡ๅ€™็พค" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2201022
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010121http://purl.obolibrary.org/obo/MONDO_0009940
skos:prefLabel - "ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ๆฟƒๅŒ–็•ฐ้ชจ็—‡" @ja
- - + - - + + - + - + + + + + - + - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200662 +
http://nanbyodata.jp/ontology/NANDO_2201024 (rdf:type owl:Class @@ -137695,79 +197653,67 @@

hasNotificationNumber14hasNotificationNumber4
dcterms:identifier2200662NANDO:2201024
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Familial platelet disorder with propensity to myeloid." + "osteopoikilosis" @en
rdfs:label - "้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ใ“ใคใฏใ‚“ใ‚‚ใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจๆ–‘็ด‹็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659
- skos:altLabel - "FPDMM" - @en
- skos:altLabel - "ย Familial Platelet Disorder with Associated Myeloid Malignancy" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011071http://nanbyodata.jp/ontology/NANDO_2201022
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100083http://purl.obolibrary.org/obo/MONDO_0001414
skos:prefLabel - "้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "้ชจๆ–‘็ด‹็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200663 +
http://nanbyodata.jp/ontology/NANDO_2201025 (rdf:type owl:Class @@ -137775,72 +197721,72 @@

hasNotificationNumber14hasNotificationNumber4
dcterms:identifier2200663NANDO:2201025
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Autosomal dominant thrombocytopenia, thrombocytopenia 2" + "Osteopathia Striata" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "ใ“ใคใ›ใ‚“ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจ็ทš็Šถ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1525http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3301
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659
- skos:altLabel - "THC2 " - @enhttp://nanbyodata.jp/ontology/NANDO_2201022
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008555http://purl.obolibrary.org/obo/MONDO_0010310
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡" + "้ชจ็ทš็Šถ็—‡" @ja
- - + - - + + + + + + - + - - - - - + - - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200664 +
http://nanbyodata.jp/ontology/NANDO_2201026 (rdf:type owl:Class @@ -137848,167 +197794,105 @@

hasNotificationNumber14hasNotificationNumber15
+ dcterms:description + "ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎใ€ใใ‚‚็ŠถๆŒ‡ใ€่€ณไป‹ใฎๅค‰ๅฝขใ€ๅดๅผฏ็—‡ใ€็ดฐใ้•ทใ„ๅ››่‚ขใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ไฝ“ๅž‹็š„ใซใฏใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹็‚นใŒๅคšใ„ใŒใ€ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใงใฏ้–ข็ฏ€ๅผ›็ทฉๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ๆœฌ็—‡ใงใฏ้–ข็ฏ€ใฏๆ‹˜็ธฎใ™ใ‚‹ใ€‚ ็‰นใซๆ‰‹ๆŒ‡ใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใงใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹็œผ็—‡็Šถใ‚„ๅคง่ก€็ฎก็ณปใฎๅˆไฝต็—‡ใฏไผดใ‚ใชใ„ใ€‚ ใ—ใฐใ—ใฐไนใ—ใ„็šฎไธ‹่„‚่‚ช็ต„็น”ใ€่ˆŸ็Šถ้ ญใ‚’ไผดใ†ใ€‚้ ไฝๅž‹ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎ็—‡๏ผˆdistal arthrogryposis๏ผ‰9ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" + @ja
dcterms:identifier2200664NANDO:2201026
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
- rdfs:label - "GPIIb/IIIa็•ฐๅธธ็—‡" - @jahttps://www.shouman.jp/archives/doc/doc_15_02_016_01.pdf
rdfs:label - "ITGA2B/ITGB3 mutations" + "Beals syndrome" @en
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659
- skos:prefLabel - "GPIIb/IIIa็•ฐๅธธ็—‡" - @ja
- - - - - - - - - - - - - - - - + "ใณใƒผใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - - - - - - - - + - -
http://nanbyodata.jp/ontology/nando#2200665 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber14
- dcterms:identifier2200665
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf
rdfs:label - "ACTN1 mutations" - @en
rdfs:label - "ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡" + "ใƒ“ใƒผใƒซใ‚บ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659
- skos:prefLabel - "ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡" - @jahttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=331
- - - - - + + - - + + - - + + - + - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200666 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber14 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=332
- dcterms:identifier2200666 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_016/
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdf + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2100293
- rdfs:label + skos:altLabel - "Paris-Trousseau/Jacobsen็—‡ๅ€™็พค" + "Beals็—‡ๅ€™็พค" @ja
- rdfs:label + skos:altLabel - "Paris-trousseau/Jacobsen syndrome" + "Congenital contractural arachnodactyly" @en
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/ + skos:altLabel + "้ ไฝๅž‹ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎ็—‡9ๅž‹" + @ja
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659 + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007363
skos:prefLabel - "Paris-Trousseau/Jacobsen็—‡ๅ€™็พค" + "ใƒ“ใƒผใƒซใ‚บ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200667 +
http://nanbyodata.jp/ontology/NANDO_2201027 (rdf:type owl:Class @@ -138016,55 +197900,79 @@

hasNotificationNumber14hasNotificationNumber3
+ dcterms:description + "Bean็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ…จ่บซใฎ็šฎ่†šใŠใ‚ˆใณๆถˆๅŒ–็ฎกใ‚’ไธญๅฟƒใจใ—ใŸๅ†…่‡“ใซ็”Ÿใ˜ใ‚‹้™่„ˆๅฅ‡ๅฝขใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใŒใ‚ดใƒ ไนณ้ฆ–ใซไผผใฆใŠใ‚Šใ€้’่‰ฒใŒใ‹ใฃใฆใ„ใ‚‹ใŸใ‚ใ€1958ๅนดใซWilliam Beanใซใ‚ˆใ‚Šblue rubber bleb nevus syndrome (้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ…จ่บซใฎ็šฎ่†šไปฅๅค–ใซใ€ๆถˆๅŒ–็ฎกใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๅคš่‡“ๅ™จใซ็—…ๅค‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซ้‡็ฏคใชๅ‡บ่ก€ๆ€งๅˆไฝต็—‡ใ‚’่ตทใ“ใ™1)ใ€‚ใพใŸใ€ๅฅ‡ๅฝข่ก€็ฎกๅ†…ใซใŠใ„ใฆๅฑ€ๆ‰€็š„ใชๅ‡ๅ›บๅ› ๅญๆถˆ่ฒปใŒ็”Ÿใ˜ใ€ๅ…จ่บซๆ€ง่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคšใใฏๆ•ฃ็™บไพ‹ใ ใŒ้บไผๆ€งใฎๅ ดๅˆใซใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใ€‚" + @ja
dcterms:identifier2200667NANDO:2201027
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_001_01.pdf
rdfs:label - "platelet dysfunction" + "Blue Rubber Bleb Nevus Syndrome" @en
rdfs:label - "ฮฒ1 tubulin ็•ฐๅธธ็—‡" + "ใ‚ใŠใ„ใ‚ใ”ใ‚€ใพใ‚Šใ‚ˆใ†ใผใฏใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=175
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/16_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659http://nanbyodata.jp/ontology/NANDO_2100295
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007203
skos:prefLabel - "ฮฒ1 tubulin ็•ฐๅธธ็—‡" + "้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200668 +
http://nanbyodata.jp/ontology/NANDO_2201028 (rdf:type owl:Class @@ -138072,55 +197980,74 @@

hasNotificationNumber14hasNotificationNumber4
+ dcterms:description + "ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€้ ญ้ š้ƒจใ€ๅ››่‚ขใ€ไฝ“ๅนนใชใฉใฎๅ…จ้ ˜ๅŸŸใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ๅ›ฐ้›ฃใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200668NANDO:2201028
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_002_01.pdf
rdfs:label - "platenet-type von willebrand disease" + "Gigantic venous malformation" @en
rdfs:label - "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—…" + "ใใ‚‡ใ ใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„" + @ja-Hira
+ rdfs:label + "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/https://www.shouman.jp/disease/details/16_01_002/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659http://nanbyodata.jp/ontology/NANDO_2100295
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003083
skos:prefLabel - "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—…" + "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข" @ja
- - + - - + + + + + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200669 +
http://nanbyodata.jp/ontology/NANDO_2201029 (rdf:type owl:Class @@ -138128,55 +198055,81 @@

hasNotificationNumber14hasNotificationNumber5
+ dcterms:description + "้™่„ˆๅฅ‡ๅฝขใฏใ€่ƒŽ็”ŸๆœŸใฎ่„ˆ็ฎกๅฝขๆˆ้Ž็จ‹ใฎ็•ฐๅธธใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ€€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก(ใ‚ทใƒฃใƒณใƒˆ)ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVAๅˆ†้กžใงใฏใ€้ซ˜ๆต้€Ÿๅž‹ใฎ่„ˆ็ฎกๅฅ‡ๅฝขใซไฝ็ฝฎไป˜ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝขใซใŠใ„ใฆๆตๅ…ฅๅ‹•่„ˆใจๆตๅ‡บ้™่„ˆใฎ็•ฐๅธธๅปๅˆ้ƒจใŒ่ค‡้›‘ใซ็ถฒ็Šถใซ็ตกใ‚€ๆง˜ๅญใฏใ€ใ—ใฐใ—ใฐใƒŠใ‚คใƒ€ใ‚น(nidus, ใ€Œๅทฃใ€ใฎๆ„)ใจ่กจ็พใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไนณๅนผๅ…ๆœŸใซใฏใปใผ็„ก็—‡ๅ€™ใงใ€ๅญฆ็ซฅๆœŸไปฅ้™ใซๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้ ญ้ ธ้ƒจใ€ๅ››่‚ขใ€ไฝ“ๅนน้ƒจใชใฉๅ…จ่บซใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็—…ๅค‰ใฎๅฑ€ๅœจใฏใ€ไธ€ใƒถๆ‰€ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ€ๅบƒ็ฏ„ๅ›ฒใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใ€่ค‡ๆ•ฐใฎ้ƒจไฝใซๅคš็™บใ™ใ‚‹ใ‚‚ใฎใชใฉๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใซใŠใ„ใฆๅทจๅคงใจใ™ใ‚‹็›ฎๅฎ‰ใฏใ€ๆœฌไบบใฎๆ‰‹ๆŽŒๅคงไปฅไธŠใฎๅบƒใŒใ‚Šใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๆˆ้•ทใจใจใ‚‚ใซๅข—ๅคงใ€ๅข—ๆ‚ชใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚Šใ€็—…ๅค‰ใฎ้€ฒ่กŒใซใคใ‚Œใฆใ€็–ผ็—›ใ€ๆฝฐ็˜ใ€ๆ„ŸๆŸ“ใ€ๆฉŸ่ƒฝ้šœๅฎณใชใฉ็—‡็Šถใ ใ‘ใงใชใใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ใ‚ทใƒฃใƒณใƒˆ้‡ๅข—ๅŠ ใซใ‚ˆใ‚‹ๅฟƒไธๅ…จใชใฉ็”Ÿๅ‘ฝใฎๅฑๆฉŸใ‚’ๅŠใผใ—ๅพ—ใ‚‹ใ€‚็ฉๆฅต็š„ๆฒป็™‚ใฏใ€ๅค–็ง‘ๆ‰‹่ก“๏ผˆๅˆ‡้™คใ€ๅ†ๅปบใ€ๅˆ‡ๆ–ญ๏ผ‰ใ‚„่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆ่ก€็ฎกๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใชใฉใŒใ‚ใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใ—ใฐใ—ใฐๆ นๆฒปๅ›ฐ้›ฃใงใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ๅŒปๅญฆ็š„็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200669NANDO:2201029
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_003_01.pdf
rdfs:label - "ADP receptor deficiencies" + "Huge arteriovenous malformation" @en
rdfs:label - "ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" + "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„" + @ja-Hira
+ rdfs:label + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/https://www.shouman.jp/disease/details/16_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659http://nanbyodata.jp/ontology/NANDO_2100295
+ skos:altLabel + "Gigantic arteriovenous malformation" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001256
skos:prefLabel - "ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข" @ja
- - + - - + + + + + + - + - + + + + + - + + + + + + + + + - + + "Klippel-Trenanay-Weber็—‡ๅ€™็พค" + @ja + "Klippelโ€“Trรฉnaunay syndrome" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200670 +
http://nanbyodata.jp/ontology/NANDO_2201030 (rdf:type owl:Class @@ -138184,69 +198137,98 @@

hasNotificationNumber14hasNotificationNumber6
+ dcterms:description + "ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†๏ผˆๅ‹•่„ˆใƒป้™่„ˆใƒปๆฏ›็ดฐ่ก€็ฎกใƒปใƒชใƒณใƒ‘็ฎก๏ผ‰ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—ใ€ๅผทใ„็–ผ็—›ใ‚„ๆฝฐ็˜ใฏ้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚ๅ‡ๅ›บ็ทšๆบถ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ€€็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใ€ๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚" + @ja
dcterms:identifier2200670NANDO:2201030
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_004_01.pdf
rdfs:label - "Abnormalities in platelet collagen receptors" + "Klippel-Trenaunay-Weber syndrome" @en
rdfs:label - "ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" + "ใใ‚Šใฃใบใ‚‹ใƒปใจใ‚Œใฎใญใƒผใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/http://nanbyodata.jp/ontology/NANDO_1200884
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=855
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/16_01_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659http://nanbyodata.jp/ontology/NANDO_2100295
skos:altLabel - "GPVI deficiency " - @en
skos:altLabel - "GPVIๆฌ ๆ็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007864
skos:prefLabel - "ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡" + "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" @ja
- - + - - + + + + + + - + - + - - - - + "ใ’ใ‚“ใฑใคใ›ใ„ใ‚Šใ‚“ใฑใตใ—ใ‚…" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200671 +
http://nanbyodata.jp/ontology/NANDO_2201031 (rdf:type owl:Class @@ -138254,70 +198236,74 @@

hasNotificationNumber14hasNotificationNumber7
+ dcterms:description + "ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ๏ผˆprimary lymphedema๏ผ‰ใฏใ€็™Œๆ‰‹่ก“ใซใŠใ‘ใ‚‹ใƒชใƒณใƒ‘็ฏ€้š”ๆธ…็ญ‰ใฎไฝ•ใ‚‰ใ‹ใฎ่ช˜ๅ› ๅพŒใซ็™บ็—‡ใ™ใ‚‹ไบŒๆฌกๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใจๅŒบๅˆฅใ•ใ‚Œใ€ใƒชใƒณใƒ‘็ฎกใฎๅ…ˆๅคฉ็š„ไฝŽๅฝขๆˆใƒป็„กๅฝขๆˆใ‚„ๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ๅ››่‚ขใ€็‰นใซไธ‹่‚ขใ‚’ไธญๅฟƒใซใƒชใƒณใƒ‘ใ†ใฃๆปž๏ผˆๆตฎ่…ซ๏ผ‰ใ‚’็™บ็—‡ใ—ๆ…ขๆ€ง็š„ใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็—‡็Šถใƒป็ตŒ้Žใฏๅคšๆง˜ใงใ‚ใ‚‹ใŒใ€ๆตฎ่…ซใซใ‚ˆใ‚Š่‚ฅๅคงใ—ใŸๅ››่‚ขใฎๆ•ดๅฎนๆ€งใฎๅ•้กŒใ‚„ๆ„ŸๆŸ“ใ‚„ใฉใฎๆ‚ฃ้ƒจใซ็ถš็™บใ™ใ‚‹ๅ•้กŒใซใ‚ˆใฃใฆ็”Ÿๆถฏใซใ‚ใŸใ‚Š่บซไฝ“็š„ใƒป็ฒพ็ฅž็š„่‹ฆ็—›ใจใชใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใฏใ€็™บ็—‡ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…ˆๅคฉๆ€ง๏ผˆ1ๆญณๆœชๆบ€๏ผ‰ใ€ๆ—ฉ็™บๆ€ง๏ผˆ1๏ฝž35ๆญณ๏ผ‰ใ€้…็™บๆ€ง๏ผˆ36ๆญณไปฅไธŠ๏ผ‰ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆKinmonthใฎๅˆ†้กž๏ผ‰ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใฏไป–ใฎ็‰นๅพด็š„ใช็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใฎไธ€็—‡็Šถใงใ‚ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใฎ้–ข้€ฃ้บไผๅญใŒๆฌกใ€…ใจ็™บ่ฆ‹ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใ‚’ๅซใ‚ใฆ็—…ๆ…‹็™บ็”ŸๆฉŸๅบใฎ็†่งฃใŒ้€ฒใ‚€ใซใคใ‚Œใฆใ€ๅˆ†้กžใฏไปŠๅพŒใ‚‚ไฟฎๆญฃใ‚’็นฐใ‚Š่ฟ”ใ™ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚" + @ja
dcterms:identifier2200671NANDO:2201031
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_20_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_005_01.pdf
rdfs:label - "Scott syndrome" + "Primary lymphedema" @en
rdfs:label - "ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2869
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01162 + rdfs:label + "ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_20_035/https://www.shouman.jp/disease/details/16_01_005/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200659http://nanbyodata.jp/ontology/NANDO_2100295
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009885http://purl.obolibrary.org/obo/MONDO_0019175
skos:prefLabel - "ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค" + "ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200672 +
http://nanbyodata.jp/ontology/NANDO_2201032 (rdf:type owl:Class @@ -138325,62 +198311,79 @@

hasNotificationNumber31hasNotificationNumber8
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + "ใƒชใƒณใƒ‘็ฎก่…ซใฏไธปใซๅฐๅ…๏ผˆๅคšใใฏๅ…ˆๅคฉๆ€ง๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธปไฝ“ใจใ—ใŸ่…ซ็˜คๆ€ง็—…ๅค‰ใงใ‚ใ‚Šใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅคšใใฎ็—‡ไพ‹ใงใฏ็กฌๅŒ–็™‚ๆณ•ใ‚„ๅค–็ง‘็š„ๅˆ‡้™ค็ญ‰ใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้‡็—‡ไพ‹ใฏใ—ใฐใ—ใฐๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆฐ—้“้–‰ๅกžใชใฉใฎๆฉŸ่ƒฝ็š„ใชๅ•้กŒใ‚„ๆ•ดๅฎน็š„ใชๅ•้กŒใ‚’ๆŠฑใˆใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVA๏ผˆInternational Society of Studying Vascular Anomaly, ๅ›ฝ้š›่ก€็ฎกๅฅ‡ๅฝข็ ”็ฉถๅญฆไผš๏ผ‰ๅˆ†้กžใซใŠใ„ใฆใฏ่„ˆ็ฎก็—…ๅค‰ใฎไธ€ใคใจใ—ใฆใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใซๅซใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅ—ใ‘ใฆๆœ€่ฟ‘ใงใฏใƒชใƒณใƒ‘็ฎก่…ซใ‚’ใ€Œใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ใจๅ‘ผใถใ“ใจใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚่‹ฑ่ชžๅใฏlymphangiomaใ€cystic or common lymphatic malformationใ€cystic hygromaใชใฉใ€‚ใƒชใƒณใƒ‘็ฎก่…ซใ‚’็—…ๅค‰ใฎไธ€้ƒจใซๅซใ‚€ใ€ใ‚ˆใ‚Š่ค‡้›‘ใช็—‡ๅ€™็พคใŒใ„ใใคใ‹็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผˆKlippel-Trenaunay ็—‡ๅ€™็พคใชใฉ๏ผ‰ใ€่จบๆ–ญใƒปๅฎš็พฉใซใคใ„ใฆใฏใพใ ไธ็ขบๅฎšใชใจใ“ใ‚ใŒใ‚ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏใƒชใƒณใƒ‘็ฎก่…ซใจๅŒๆง˜ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใซใ‚ˆใ‚‹ๆตธๆฝคๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ใŒใ€ๆบถ้ชจๆ€งๅค‰ๅŒ–ใ‚„ๅคš่‡“ๅ™จใงใฎ็™บ็”Ÿใ€ไนณ็ณœ่ƒธๆฐดใƒป่…นๆฐดใชใฉใฎใƒชใƒณใƒ‘ๆผใชใฉๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคšใใŒ้›ฃๆฒปๆ€งใงใ€็พๆ™‚็‚นใงใฏ็ขบๅฎŸใซๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ไผผใŸใ‚ˆใ†ใช็—‡็Šถใฎใ‚ดใƒผใƒใƒ ็—…ใฏ้ชจๆบถ่งฃ็—‡็ŠถใŒใ‚ˆใ‚Š้ก•่‘—ใงใ‚ใ‚‹ใŒใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใฎ้‘‘ๅˆฅใฏใฏใฃใใ‚Šใ—ใชใ„ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏ่‹ฑ่ชžๅใงใฏlymphangiomatosisใ€generalized lymphatic anomalyใชใฉใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ€€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใƒชใƒณใƒ‘็ฎก่…ซใฏ้‘‘ๅˆฅใŒ้›ฃใ—ใใ€็พๆ™‚็‚นใงใฏๆ˜Ž็ขบใซๅˆ†้กžใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซๆง˜็—…ๅค‰ใŒ้›ขใ‚ŒใŸไฝ็ฝฎใซ่ค‡ๆ•ฐใ‚ใฃใŸใ‚Šใ€็—…ๅค‰ใŒๆ‹กๅคงใ€ๆตธๆฝคๅ‚พๅ‘ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200672NANDO:2201032
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_006_01.pdf
rdfs:label - "afibrinogenaemia" + "lymphangioma" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡" + "ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…" + @ja-Hira
+ rdfs:label + "ใƒชใƒณใƒ‘็ฎก่…ซ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_036/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01471
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/16_01_006/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_2100295
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002013
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡" + "ใƒชใƒณใƒ‘็ฎก่…ซ" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200673 +
http://nanbyodata.jp/ontology/NANDO_2201033 (rdf:type owl:Class @@ -138388,62 +198391,84 @@

hasNotificationNumber32hasNotificationNumber9
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + "ใƒชใƒณใƒ‘็ฎก่…ซใฏไธปใซๅฐๅ…๏ผˆๅคšใใฏๅ…ˆๅคฉๆ€ง๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธปไฝ“ใจใ—ใŸ่…ซ็˜คๆ€ง็—…ๅค‰ใงใ‚ใ‚Šใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅคšใใฎ็—‡ไพ‹ใงใฏ็กฌๅŒ–็™‚ๆณ•ใ‚„ๅค–็ง‘็š„ๅˆ‡้™ค็ญ‰ใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้‡็—‡ไพ‹ใฏใ—ใฐใ—ใฐๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆฐ—้“้–‰ๅกžใชใฉใฎๆฉŸ่ƒฝ็š„ใชๅ•้กŒใ‚„ๆ•ดๅฎน็š„ใชๅ•้กŒใ‚’ๆŠฑใˆใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVA๏ผˆInternational Society of Studying Vascular Anomaly, ๅ›ฝ้š›่ก€็ฎกๅฅ‡ๅฝข็ ”็ฉถๅญฆไผš๏ผ‰ๅˆ†้กžใซใŠใ„ใฆใฏ่„ˆ็ฎก็—…ๅค‰ใฎไธ€ใคใจใ—ใฆใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใซๅซใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅ—ใ‘ใฆๆœ€่ฟ‘ใงใฏใƒชใƒณใƒ‘็ฎก่…ซใ‚’ใ€Œใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ใจๅ‘ผใถใ“ใจใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚่‹ฑ่ชžๅใฏlymphangiomaใ€cystic or common lymphatic malformationใ€cystic hygromaใชใฉใ€‚ใƒชใƒณใƒ‘็ฎก่…ซใ‚’็—…ๅค‰ใฎไธ€้ƒจใซๅซใ‚€ใ€ใ‚ˆใ‚Š่ค‡้›‘ใช็—‡ๅ€™็พคใŒใ„ใใคใ‹็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผˆKlippel-Trenaunay ็—‡ๅ€™็พคใชใฉ๏ผ‰ใ€่จบๆ–ญใƒปๅฎš็พฉใซใคใ„ใฆใฏใพใ ไธ็ขบๅฎšใชใจใ“ใ‚ใŒใ‚ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏใƒชใƒณใƒ‘็ฎก่…ซใจๅŒๆง˜ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใซใ‚ˆใ‚‹ๆตธๆฝคๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ใŒใ€ๆบถ้ชจๆ€งๅค‰ๅŒ–ใ‚„ๅคš่‡“ๅ™จใงใฎ็™บ็”Ÿใ€ไนณ็ณœ่ƒธๆฐดใƒป่…นๆฐดใชใฉใฎใƒชใƒณใƒ‘ๆผใชใฉๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคšใใŒ้›ฃๆฒปๆ€งใงใ€็พๆ™‚็‚นใงใฏ็ขบๅฎŸใซๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ไผผใŸใ‚ˆใ†ใช็—‡็Šถใฎใ‚ดใƒผใƒใƒ ็—…ใฏ้ชจๆบถ่งฃ็—‡็ŠถใŒใ‚ˆใ‚Š้ก•่‘—ใงใ‚ใ‚‹ใŒใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใฎ้‘‘ๅˆฅใฏใฏใฃใใ‚Šใ—ใชใ„ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏ่‹ฑ่ชžๅใงใฏlymphangiomatosisใ€generalized lymphatic anomalyใชใฉใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ€€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใƒชใƒณใƒ‘็ฎก่…ซใฏ้‘‘ๅˆฅใŒ้›ฃใ—ใใ€็พๆ™‚็‚นใงใฏๆ˜Ž็ขบใซๅˆ†้กžใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซๆง˜็—…ๅค‰ใŒ้›ขใ‚ŒใŸไฝ็ฝฎใซ่ค‡ๆ•ฐใ‚ใฃใŸใ‚Šใ€็—…ๅค‰ใŒๆ‹กๅคงใ€ๆตธๆฝคๅ‚พๅ‘ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใ—ใฆใ„ใ‚‹ใ€‚" @ja
dcterms:identifier2200673NANDO:2201033
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_007_01.pdf
rdfs:label - "hypoprothrombinaemia" + "lymphangiomatosis" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + "ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_037/http://nanbyodata.jp/ontology/NANDO_1200879
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01735
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/16_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_2100295
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015408
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡" @ja
- - + - - + + - + - + + "ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใพใฃใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200674 +
http://nanbyodata.jp/ontology/NANDO_2201034 (rdf:type owl:Class @@ -138451,77 +198476,102 @@

hasNotificationNumber33hasNotificationNumber1
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผˆHHT, ใ‚ชใ‚นใƒฉใƒผ็—…๏ผ‰ใฏใ€็šฎ่†šใƒป็ฒ˜่†œใƒปๆถˆๅŒ–็ฎกใฎๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผต็—…ๅค‰ใ‹ใ‚‰ใฎๅๅพฉใ™ใ‚‹ๅ‡บ่ก€ใ€ๅคš่‡“ๅ™จ๏ผˆ่„ณใƒป่„Š้ซ„ใƒป่‚บใƒป่‚่‡“๏ผ‰ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200674NANDO:2201034
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_02_008_01.pdf
rdfs:label - "factor V deficiency" + "Hereditary hemorrhagic telangiectasia" @en
rdfs:label - "็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2197 + rdfs:label + "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_038/https://www.shouman.jp/disease/details/16_02_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_2100296
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009210 + skos:altLabel + "HHT" + @en
+ skos:altLabel + "Hereditary haemorrhagic telangiectasia" + @en
+ skos:altLabel + "Osler-Weber-Rendu disease" + @en
+ skos:altLabel + "ใ‚ชใ‚นใƒฉใƒผ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020586http://purl.obolibrary.org/obo/MONDO_0019180
skos:prefLabel - "็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡" + "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200675 +
http://nanbyodata.jp/ontology/NANDO_2201035 (rdf:type owl:Class @@ -138529,77 +198579,86 @@

hasNotificationNumber34hasNotificationNumber2
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + "1940ๅนดใซๆ”พๅฐ„็ทš็ง‘ๅŒปใฎKasabachใจๅฐๅ…็ง‘ๅŒปใฎMerrittใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็—‡ๅ€™็พคใงใ€ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็พ่ฑกใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๅฝผใ‚‰ใฏๆฏ›็ดฐ่ก€็ฎกๆ€ง่ก€็ฎก่…ซใจใ„ใ†็—…ๅใงๅ ฑๅ‘Šใ—ใŸใŒใ€ๅฎŸ้š›ใฏๆฏ›็ดฐ่ก€็ฎกๆ€ง่ก€็ฎก่…ซใงใฏใชใใ€ใ‚ซใƒใ‚ธๅž‹่ก€็ฎกๅ†…็šฎ่…ซใ€€kaposiform hemangioendothelioma๏ผˆKHE๏ผ‰ใพใŸใฏๆˆฟ็Šถ่ก€็ฎก่…ซtufted angioma (TA)ใงใ‚ใฃใŸใ€‚ใ“ใ‚Œใ‚‰ใฏๅŒใ˜็—…ๅค‰ใจใ™ใ‚‹ๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€ๅฐๅ…ๆœŸใ€็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใฎใ‚ซใƒใ‚ธๅž‹่ก€็ฎกๅ†…็šฎ่…ซใพใŸใฏๆˆฟ็Šถ่ก€็ฎก่…ซใซๅˆไฝตใ—ใฆ่ตทใ“ใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่ฒง่ก€ใ€ๅ‡ๅ›บ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€็‰นใซ่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒ็‰นๅพดใงใ‚ใ‚Šใ€ๅ‡บ่ก€ใ‚„ๅคš่‡“ๅ™จไธๅ…จใชใฉ่‡ดๅ‘ฝ็š„ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200675NANDO:2201035
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_03_009_01.pdf
rdfs:label - "factor VII deficiency" + "Kasabach-Merritt syndrome" @en
rdfs:label - "็ฌฌโ…ฆๅ› ๅญๆฌ ไน็—‡" + "ใ‹ใ•ใฐใฃใฏใƒปใ‚ใ‚Šใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค " @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2198http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=697
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_039/https://www.shouman.jp/disease/details/16_03_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_2100297
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002244 + skos:altLabel + "Kasabach-Merritt็—‡ๅ€™็พค " + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009211http://purl.obolibrary.org/obo/MONDO_0007708
skos:prefLabel - "็ฌฌโ…ฆๅ› ๅญๆฌ ไน็—‡" + "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค " @ja
- - + - - - - - - + + - + - + + "ใธใ‚“ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…๏ผˆใฟใŽ๏ผ‰" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200676 +
http://nanbyodata.jp/ontology/NANDO_2201036 (rdf:type owl:Class @@ -138607,72 +198666,62 @@

hasNotificationNumber29
- dcterms:description - "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200676NANDO:2201036
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_01_05_029_01.pdf
rdfs:label - "haemophilia A" + "unilateral retinoblastoma (right)" @en
rdfs:label - "่ก€ๅ‹็—…๏ผก" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=586 + rdfs:label + "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅณ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_040/https://www.shouman.jp/disease/details/01_05_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010602http://nanbyodata.jp/ontology/NANDO_2200042
skos:prefLabel - "่ก€ๅ‹็—…๏ผก" + "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅณ๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200677 +
http://nanbyodata.jp/ontology/NANDO_2201037 (rdf:type owl:Class @@ -138680,62 +198729,62 @@

hasNotificationNumber30
- dcterms:description - "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200677NANDO:2201037
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_01_05_029_01.pdf
rdfs:label - "haemophilia B" + "unilateral retinoblastoma (left)" @en
rdfs:label - "่ก€ๅ‹็—…๏ผข" + "ใธใ‚“ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…๏ผˆใฒใ ใ‚Š๏ผ‰" + @ja-Hira
+ rdfs:label + "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅทฆ๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_041/https://www.shouman.jp/disease/details/01_05_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_2200042
skos:prefLabel - "่ก€ๅ‹็—…๏ผข" + "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅทฆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ‚Šใ‚‡ใ†ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…" + @ja-Hira - - + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200678 +
http://nanbyodata.jp/ontology/NANDO_2201038 (rdf:type owl:Class @@ -138743,77 +198792,67 @@

hasNotificationNumber35
- dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200678NANDO:2201038
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_01_05_029_01.pdf
rdfs:label - "factor X deficiency" + "bilateral retinoblastoma" @en
rdfs:label - "็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2199 + rdfs:label + "ไธกๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_042/https://www.shouman.jp/disease/details/01_05_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002247http://nanbyodata.jp/ontology/NANDO_2200042
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009212http://purl.obolibrary.org/obo/MONDO_0003075
skos:prefLabel - "็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡" + "ไธกๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ" @ja
- - + - - + + - + - + + "ใใ‹ใ‚“ใ—ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200679 +
http://nanbyodata.jp/ontology/NANDO_2201039 (rdf:type owl:Class @@ -138821,77 +198860,69 @@

hasNotificationNumber36hasNotificationNumber6
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200679NANDO:2201039
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "factor XI deficiency" + "bronchial stenosis" @en
rdfs:label - "็ฌฌโ…ชๅ› ๅญๆฌ ไน็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7137 + rdfs:label + "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_043/https://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012897
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020587http://nanbyodata.jp/ontology/NANDO_2200196
skos:prefLabel - "็ฌฌโ…ชๅ› ๅญๆฌ ไน็—‡" + "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200680 +
http://nanbyodata.jp/ontology/NANDO_2201040 (rdf:type owl:Class @@ -138899,72 +198930,79 @@

hasNotificationNumber37hasNotificationNumber6
dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" + "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" @ja
dcterms:identifier2200680NANDO:2201040
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label - "factor XII deficiency" + "bronchomalacia" @en
rdfs:label - "็ฌฌโ…ซๅ› ๅญๆฌ ไน็—‡" + "ใใ‹ใ‚“ใ—ใชใ‚“ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2304http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1862
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_044/https://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_2200189
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009315http://purl.obolibrary.org/obo/MONDO_0008888
skos:prefLabel - "็ฌฌโ…ซๅ› ๅญๆฌ ไน็—‡" + "ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡" @ja
- - + - - - - - - + + - + - + + + + + - - - - - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200681 +
http://nanbyodata.jp/ontology/NANDO_2201041 (rdf:type owl:Class @@ -138972,72 +199010,67 @@

hasNotificationNumber38
- dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber88
dcterms:identifier2200681NANDO:2201041
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_12_016_01.pdf
rdfs:label - "factor XIII deficiency" + "hypertrophic nonobstructive cardiomyopathy" @en
rdfs:label - "็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡" + "ใฒใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_045/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_1200287
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002241 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_12_016/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018029 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200229
skos:prefLabel - "็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡" + "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - - - - - + + - + - + + + + + - - - - - - - - - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200682 +
http://nanbyodata.jp/ontology/NANDO_2201042 (rdf:type owl:Class @@ -139045,86 +199078,72 @@

hasNotificationNumber39
- dcterms:description - "von Willebrand็—…๏ผˆVWD๏ผ‰ใฏvon Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใ‚’ๆฅใ™้บไผๆ€งๅ‡บ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚von Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฏๅˆ†ๅญ้‡็ด„500๏ฝ‹Da-20,000kDaใซๅŠใถใƒžใƒซใƒใƒžใƒผๆง‹้€ ใ‚’ๅฝขๆˆใ™ใ‚‹้ซ˜ๅˆ†ๅญ้‡ใฎ็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚Šใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ‚„้ชจ้ซ„ๅทจๆ ธ็ƒใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚VWFใฏ่ก€็ฎกๆๅ‚ท้ƒจไฝใซใŠใ„ใฆ่ก€ๅฐๆฟใ‚’ๅ†…็šฎไธ‹็ตๅˆ็ต„็น”ใธ็ฒ˜็€ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚’ๆœ‰ใ—ใ€ไธ€ๆฌกๆญข่ก€ใซใŠใ„ใฆๆฅตใ‚ใฆ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚VWFใฏๅคงๅฐๆง˜ใ€…ใชใƒžใƒซใƒใƒžใƒผใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใŒใ€้ซ˜ๅˆ†ๅญ้‡ใฎใƒžใƒซใƒใƒžใƒผใปใฉๆญข่ก€่ƒฝใŒ้ซ˜ใ„ใ€‚ใพใŸVWFใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌโ…งๅ› ๅญ๏ผˆFVIII๏ผ‰ใจ็ตๅˆใ—่ก€ๆผฟไธญใฎFVIIIใ‚’ๅฎ‰ๅฎšๅŒ–ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚‚ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็—‡ใงใฏไบŒๆฌก็š„ใซFVIIIใ‚‚ไฝŽไธ‹ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฎ็—…ๅ› ใƒป็—…ๆ…‹ใฏๅคšๆง˜ใงใ€้‡็š„ๆธ›ๅฐ‘็—‡ใฎ1ๅž‹ใ€่ณช็š„็•ฐๅธธ็—‡ใฎ2ๅž‹ใ€ๅฎŒๅ…จๆฌ ๆ็—‡ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€2ๅž‹ใซใฏๆ›ดใซ2Aใ€2Bใ€2Mใ€2Nใฎ4ไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็š„็—…ๆ…‹ใฏVWFใฎ็•ฐๅธธใซๅŸบใฅใ่ก€ๅฐๆฟ็ฒ˜็€ใŠใ‚ˆใณๅ‡้›†้šœๅฎณใจFVIIIไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber88
dcterms:identifier2200682NANDO:2201042
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_12_016_01.pdf
rdfs:label - "Von Willebrand disease" + "hypertrophic obstructive cardiomyopathy" @en
rdfs:label - "ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" + "ใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_046/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196
- skos:altLabel - "VWD" - @enhttp://nanbyodata.jp/ontology/NANDO_1200288
- skos:altLabel - "von Willebrand็—…" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_12_016/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019565 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200229
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024574http://purl.obolibrary.org/obo/MONDO_0005045
skos:prefLabel - "ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…" + "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - - - - - + + - + - + + "dilated phase of hypertrophic cardiomyopathy" + @en + "ใ‹ใใกใ‚‡ใ†ใใ†ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200683 +
http://nanbyodata.jp/ontology/NANDO_2201043 (rdf:type owl:Class @@ -139132,62 +199151,72 @@

hasNotificationNumber40
- dcterms:description - "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber88
dcterms:identifier2200683NANDO:2201043
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_12_016_01.pdf
rdfs:label - "37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" - @ja
rdfs:label - "Other inherited bleeding disorder" - @en
+ rdfs:label + "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/http://nanbyodata.jp/ontology/NANDO_1200291
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/04_12_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100196http://nanbyodata.jp/ontology/NANDO_2200229
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005045
skos:prefLabel - "37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ" + "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡" @ja
- - + - - + + - + - + + "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†๏ผˆใฆใ„ใ‘ใ„ใ‚Œใ„ใ‹ใ‚ใ•ใใณใ‚‡ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200684 +
http://nanbyodata.jp/ontology/NANDO_2201044 (rdf:type owl:Class @@ -139195,77 +199224,62 @@

hasNotificationNumber40hasNotificationNumber5
dcterms:identifier2200684NANDO:2201044
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_26_032_01.pdf
rdfs:label - "congenital prekallikrein deficiency" + "Coronary aneurysms complicated with Kawasaki disease (typical Kawasaki disease)" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7139 + rdfs:label + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆๅฎšๅž‹ไพ‹ๅทๅดŽ็—…๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/https://www.shouman.jp/disease/details/04_26_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200683
- skos:altLabel - "prekallikrein deficiency" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012901
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044744http://nanbyodata.jp/ontology/NANDO_2200245
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡" + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆๅฎšๅž‹ไพ‹ๅทๅดŽ็—…๏ผ‰" @ja
- - + - - + + - + - + + "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†๏ผˆใตใœใ‚“ใŒใŸใ‹ใ‚ใ•ใใณใ‚‡ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200685 +
http://nanbyodata.jp/ontology/NANDO_2201045 (rdf:type owl:Class @@ -139273,72 +199287,62 @@

hasNotificationNumber40hasNotificationNumber5
dcterms:identifier2200685NANDO:2201045
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_26_032_01.pdf
rdfs:label - "High molecular weightย kininogen deficiency" + "Coronary aneurysms complicated with Kawasaki disease (abortive Kawasaki disease)" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2223 + rdfs:label + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆไธๅ…จๅž‹ๅทๅดŽ็—…๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/https://www.shouman.jp/disease/details/04_26_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200683
- skos:altLabel - "congenital high molecular weightย kininogen deficiency" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009234http://nanbyodata.jp/ontology/NANDO_2200245
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡" + "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆไธๅ…จๅž‹ๅทๅดŽ็—…๏ผ‰" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200686 +
http://nanbyodata.jp/ontology/NANDO_2201046 (rdf:type owl:Class @@ -139346,55 +199350,74 @@

hasNotificationNumber40hasNotificationNumber83
dcterms:identifier2200686NANDO:2201046
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_61_085_01.pdf
rdfs:label - "Combined deficiency of coagulation factors V and VIII" + "idiopathic pulmonary arterial hypertension" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็ฌฌV+VIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡" + "ใจใใฏใคใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/https://www.shouman.jp/disease/details/04_61_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200683http://nanbyodata.jp/ontology/NANDO_2200298
+ skos:altLabel + "IPAH" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017147
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็ฌฌV+VIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡" + "็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
- - + - - + + - + - + + "ใ‹ใžใใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200687 +
http://nanbyodata.jp/ontology/NANDO_2201047 (rdf:type owl:Class @@ -139402,65 +199425,74 @@

hasNotificationNumber40hasNotificationNumber83
dcterms:identifier2200687NANDO:2201047
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_61_085_01.pdf
rdfs:label - "Alpha-2-plasmin inhibitor deficiency" + "familial pulmonary arterial hypertension" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2867 + rdfs:label + "ๅฎถๆ—ๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/https://www.shouman.jp/disease/details/04_61_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200683http://nanbyodata.jp/ontology/NANDO_2200298
+ skos:altLabel + "hereditary pulmonary arterial hypertension" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009883http://purl.obolibrary.org/obo/MONDO_0017148
skos:prefLabel - "ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡" + "ๅฎถๆ—ๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
- - + - - + + - + - + + + + + - - - - - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200688 +
http://nanbyodata.jp/ontology/NANDO_2201048 (rdf:type owl:Class @@ -139468,72 +199500,67 @@

hasNotificationNumber40hasNotificationNumber83
dcterms:identifier2200688NANDO:2201048
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_21_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_04_61_085_01.pdf
rdfs:label - "Congenital Plasminogen Activator Inhibitor-1 Deficiency" + "secondary pulmonary arterial hypertension" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡" + "ใซใ˜ใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบŒๆฌกๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7447
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_21_047/https://www.shouman.jp/disease/details/04_61_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200683
- skos:altLabel - "Plasminogen Activator Inhibitor-1 Deficiency " - @enhttp://nanbyodata.jp/ontology/NANDO_2200298
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013227http://purl.obolibrary.org/obo/MONDO_0017150
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡" + "ไบŒๆฌกๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200689 +
http://nanbyodata.jp/ontology/NANDO_2201049 (rdf:type owl:Class @@ -139541,74 +199568,62 @@

hasNotificationNumber44
- dcterms:description - "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚" - @jahasNotificationNumber75
dcterms:identifier2200689NANDO:2201049
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_22_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_08_011_01.pdf
rdfs:label - "protein C deficiency" + "idiopathic central diabetes insipidus" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" + "ใจใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_22_048/https://www.shouman.jp/disease/details/05_08_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100197
- skos:altLabel - "heritable thrombophilia" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019145http://nanbyodata.jp/ontology/NANDO_2200324
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡" + "็‰น็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200690 +
http://nanbyodata.jp/ontology/NANDO_2201050 (rdf:type owl:Class @@ -139616,74 +199631,72 @@

hasNotificationNumber45
- dcterms:description - "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚" - @jahasNotificationNumber75
dcterms:identifier2200690NANDO:2201050
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_23_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_08_011_01.pdf
rdfs:label - "protein S deficiency" + "familial central diabetes insipidus" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" + "ใ‹ใžใใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_23_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=431
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100198 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/05_08_011/
- skos:altLabel - "heritable thrombophilia" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200324
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002304http://purl.obolibrary.org/obo/MONDO_0007450
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡" + "ๅฎถๆ—ๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200691 +
http://nanbyodata.jp/ontology/NANDO_2201051 (rdf:type owl:Class @@ -139691,69 +199704,62 @@

hasNotificationNumber28
- dcterms:description - "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚" - @jahasNotificationNumber75
dcterms:identifier2200691NANDO:2201051
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_24_050_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_08_011_01.pdf
rdfs:label - "antithrombin deficiency" + "secondary central diabetes insipidus" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + "ใžใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ถš็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_24_050/https://www.shouman.jp/disease/details/05_08_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100199
- skos:altLabel - "heritable thrombophilia" - @enhttp://nanbyodata.jp/ontology/NANDO_2200324
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡" + "็ถš็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡" @ja
- - + - - - - - - + + - + - + + "MEN2A" + @ja + "Multiple endocrine neoplasia type 2A" + @en - - + + - + - + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200692 +
http://nanbyodata.jp/ontology/NANDO_2201052 (rdf:type owl:Class @@ -139761,82 +199767,93 @@

hasNotificationNumber19
- dcterms:description - "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier2200692NANDO:2201052
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_25_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_39_085_01.pdf
rdfs:label - "myelofibrosis" - @en
rdfs:label - "้ชจ้ซ„็ทš็ถญ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2679 + rdfs:label + "ใˆใ‚€ใ„ใƒผใˆใฌ2ใˆใƒผ" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01605http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1211
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_25_051/https://www.shouman.jp/disease/details/05_39_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100200http://nanbyodata.jp/ontology/NANDO_2200406
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009692 + skos:altLabel + "MEN 2A" + @en
+ skos:altLabel + "MEN type 2A" + @en
+ skos:altLabel + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2Aๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044903http://purl.obolibrary.org/obo/MONDO_0008234
skos:prefLabel - "้ชจ้ซ„็ทš็ถญ็—‡" + "MEN2A" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ‚€ใ„ใƒผใˆใฌ2ใณใƒผ" + @ja-Hira - + - + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200693 +
http://nanbyodata.jp/ontology/NANDO_2201053 (rdf:type owl:Class @@ -139844,67 +199861,93 @@

hasNotificationNumber20
- dcterms:description - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆๅ†ไธ่ฒง๏ผ‰ใฏใ€้ชจ้ซ„ใงใฎ3่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœใ€ๆœซๆขข่ก€ใงใฎ็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใŠใ‚ˆใณ่ก€ๅฐๆฟๆ•ฐใฎใ™ในใฆใŒๆธ›ๅฐ‘ใ™ใ‚‹๏ผˆๆฑŽ่ก€็ƒๆธ›ๅฐ‘๏ผ‰1ใคใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่จบๆ–ญใซใ‚ใŸใฃใฆใฏใ€้ชจ้ซ„ๆจ™ๆœฌใงๅ„่ก€็ƒๆˆๅˆ†ใซๅฝขๆ…‹็•ฐๅธธใ‚’่ชใ‚ใชใ„ใ“ใจใ€็™ฝ่ก€็—…็ดฐ่ƒžใชใฉใฎ่…ซ็˜ๆ€ง่ก€็ƒใฎๅ‡บ็พใ‚’่ชใ‚ใชใ„ใ“ใจใ€็ทš็ถญๆˆๅˆ†ใฎๅข—ๅŠ ใ‚’่ชใ‚ใชใ„ใ“ใจใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใชใ„ใ“ใจใ€่‚‰่Šฝ่…ซใ‚„ๅ›บๅฝข่…ซ็˜ใฎ้ชจ้ซ„่ปข็งปใชใฉใฎๅ ๆ‹ ๆ€ง็—…ๅค‰ใ‚’่ชใ‚ใชใ„ใ“ใจใชใฉใŒๅฟ…่ฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฎŸ้š›ใซๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใฏๅคšๆ•ฐๅญ˜ๅœจใ™ใ‚‹ใฎใงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹ไป–ใฎ็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ†ไธ่ฒงใจ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier2200693NANDO:2201053
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_09_26_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_39_085_01.pdf
+ rdfs:label + "MEN2B" + @ja
rdfs:label - "aplastic anaemia" + "Multiple endocrine neoplasia type 2B" @en
rdfs:label - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01132http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1071
rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_26_052/https://www.shouman.jp/disease/details/05_39_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100201http://nanbyodata.jp/ontology/NANDO_2200406
+ skos:altLabel + "MEN 2B" + @en
+ skos:altLabel + "MEN type 2B" + @en
+ skos:altLabel + "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2Bๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008082
skos:prefLabel - "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + "MEN2B" @ja
- - + - - - - - - + + - + - + + "ใ‹ใžใใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใšใ„ใ‚ˆใ†ใŒใ‚“" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200694 +
http://nanbyodata.jp/ontology/NANDO_2201054 (rdf:type owl:Class @@ -139912,79 +199955,81 @@

hasNotificationNumber30
- dcterms:description - "X-SCIDใฏX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚1966ๅนดใซRosen ใ‚‰ใŒๅ ฑๅ‘Šใ—ใŸ3ๅฎถ็ณปใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šฮณ้Ž–ใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€Tใƒชใƒณใƒ‘็ƒใ€NK็ดฐ่ƒžๆ•ฐใฏๆฌ ๆใพใŸใฏ่‘—ๆธ›ใ—(<300/ul)ใ€B็ดฐ่ƒžๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier2200694NANDO:2201054
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_05_39_085_01.pdf
rdfs:label - "X-linked severe combined immunodeficiency" + "medullary thyroid carcinoma" @en
rdfs:label - "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3306 + rdfs:label + "ๅฎถๆ—ๆ€ง็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œ" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_001/https://www.shouman.jp/disease/details/05_39_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200406
skos:altLabel - "X-SCID" + "FMTC" @en
+ skos:altLabel + "FMTC" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010315http://purl.obolibrary.org/obo/MONDO_0015277
skos:prefLabel - "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + "ๅฎถๆ—ๆ€ง็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œ" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใœใ‚“ใ—ใ‚“ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200695 +
http://nanbyodata.jp/ontology/NANDO_2201055 (rdf:type owl:Class @@ -139992,77 +200037,86 @@

hasNotificationNumber32
- dcterms:description - "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ใฏๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ใใฎไธ€้ƒจใฎๆ‚ฃ่€…ใฏAK2ๆฌ ๆ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚1959ๅนดใซDe Vaalใ‚‰ใฎใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚ŒใŸๅŒ่ƒŽๅ…ใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใƒฌใƒ™ใƒซใงใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ไธ€ๆ–นใ€่ตค่Šฝ็ƒใ‚„ๅทจๆ ธ็ƒใฎๅˆ†ๅŒ–ใฏใปใผๆญฃๅธธใซไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚่ก€ๆถฒๅนน็ดฐ่ƒžใใฎใ‚‚ใฎใฎ็•ฐๅธธใงใฏใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200695NANDO:2201055
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "reticular dysgenesis" + "Systemic juvenile idiopathic arthritis" @en
rdfs:label - "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2960 + rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅ…จ่บซๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01128http://nanbyodata.jp/ontology/NANDO_1200470
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_002/https://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200415
+ skos:altLabel + "sJIA" + @en
+ skos:altLabel + "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009973http://purl.obolibrary.org/obo/MONDO_0019434
skos:prefLabel - "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅ…จ่บซๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ—ใ‚‡ใ†ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200696 +
http://nanbyodata.jp/ontology/NANDO_2201056 (rdf:type owl:Class @@ -140070,91 +200124,81 @@

hasNotificationNumber29
- dcterms:description - "ADAๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ ธ้…ธไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1972ๅนดใซGiblettใ‚‰ใŒ่ตค่ก€็ƒใฎADAๆดปๆ€งใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ‚’่กŒใ„ๅถ็„ถใซADAๆฌ ๆ็—‡ใจๅ…็–ซไธๅ…จ็—‡ใฎ้–ข้€ฃใ‚’็™บ่ฆ‹ใ—ใŸใ€‚ADA้…ต็ด ๆฌ ๆใ‚ˆใ‚‹ๅ…จ่บซใฎไปฃ่ฌ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆใฎๅฝฑ้Ÿฟใฏ็‰นใซๆœช็†Ÿใชใƒชใƒณใƒ‘็ƒใซๅฏพใ—ใ€้€ฒ่กŒๆ€งใซ็ดฐ่ƒžๆฏ’ใจใ—ใฆไฝœ็”จใ™ใ‚‹ใŸใ‚ใ€ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200696NANDO:2201056
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "adenosine deaminase deficiency" + "oligoarticular juvenile idiopathic arthritis" @en
rdfs:label - "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=35
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02309 + rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅฐ‘้–ข็ฏ€็‚Ž๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_003/https://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200415
skos:altLabel - "ADA deficiency" + "oligoarthritis" @en
skos:altLabel - "ADAๆฌ ๆ็—‡" + "ๅฐ‘้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007064http://purl.obolibrary.org/obo/MONDO_0019433
skos:prefLabel - "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅฐ‘้–ข็ฏ€็‚Ž๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‚Šใ†ใพใจใ„ใฉใ„ใ‚“ใ—ใ„ใ‚“ใ›ใ„ใŸใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰" + @ja-Hira - - + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200697 +
http://nanbyodata.jp/ontology/NANDO_2201057 (rdf:type owl:Class @@ -140162,79 +200206,67 @@

hasNotificationNumber31
- dcterms:description - "1965ๅนดใซOmennใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŒๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็ถฒๅ†…็ณปใŠใ‚ˆใณ็šฎ่†šใฎ็ดฐ่ƒžๆตธๆฝคใจๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็พๅœจใฏ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ„ใใคใ‹ใฎ็–พๆ‚ฃ่ฒฌไปป้บไผๅญ็”ฃ็‰ฉใฎๆดปๆ€งใŒๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹๏ผˆhypomorphic๏ผ‰ๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹๏ผŒ" - @jahasNotificationNumber8
dcterms:identifier2200697NANDO:2201057
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "Omenn syndrome" + "Rheumatoid factor-negative juvenile idiopathic arthritis" @en
rdfs:label - "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4157 + rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฐๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_004/https://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203
- skos:altLabel - "Omenn็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200415
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011338http://purl.obolibrary.org/obo/MONDO_0043152
skos:prefLabel - "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฐๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‚Šใ†ใพใจใ„ใฉใ„ใ‚“ใ—ใ‚ˆใ†ใ›ใ„ใŸใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200698 +
http://nanbyodata.jp/ontology/NANDO_2201058 (rdf:type owl:Class @@ -140242,72 +200274,67 @@

hasNotificationNumber35
- dcterms:description - "PNPๆฌ ๆ็—‡ใฏ้žๅธธใซ็จ€ใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ๅŒๆง˜ใ€ๆ ธ้…ธไปฃ่ฌ็ตŒ่ทฏ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1975ๅนดใซGiblettใ‚‰ใฏADAๆฌ ๆ็—‡ใซ็ถšใใ€PNPๆฌ ๆ็—‡ใ‚‚ๅ…็–ซไธๅ…จใ‚’ๆƒน่ตทใ™ใ‚‹ใ“ใจใ‚’่ฆ‹ใ„ใ ใ—ใŸใ€‚่“„็ฉใ•ใ‚Œใ‚‹ไปฃ่ฌๆฏ’ๆ€ง็”ฃ็‰ฉใฎใŸใ‚ใ€ๅ…็–ซ็ณปใชใฉใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ใ‚ˆใ‚Šใ‚‚ไธ€่ˆฌใซๅ…็–ซไธๅ…จใฎ็จ‹ๅบฆใฏ่ปฝๅบฆใงๅคšๆง˜ๆ€งใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200698NANDO:2201058
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "purine nucleoside phosphorylase deficiency" + "Rheumatoid factor-positive juvenile idiopathic arthritis" @en
rdfs:label - "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7372 + rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฝๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_005/https://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200415
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013171http://purl.obolibrary.org/obo/MONDO_0019435
skos:prefLabel - "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฝๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200699 +
http://nanbyodata.jp/ontology/NANDO_2201059 (rdf:type owl:Class @@ -140315,62 +200342,74 @@

hasNotificationNumber34
- dcterms:description - "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒCD๏ผ˜ใฎๆฌ ๅคฑใซใ‚ˆใ‚Š็ดฐ่ƒž้šœๅฎณๆ€งT็ดฐ่ƒžใฎๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ™๏ผŽ2001ๅนดใซใ‚นใƒšใ‚คใƒณใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒ CD8A้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸ๏ผŽ" - @jahasNotificationNumber8
dcterms:identifier2200699NANDO:2201059
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "CD8 deficiency" + "Psoriatic juvenile idiopathic arthritis" @en
rdfs:label - "CD8ๆฌ ๆ็—‡" + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‹ใ‚“ใ›ใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_006/https://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200415
+ skos:altLabel + "้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011849
skos:prefLabel - "CD8ๆฌ ๆ็—‡" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใตใกใ‚ƒใใถใˆใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200700 +
http://nanbyodata.jp/ontology/NANDO_2201060 (rdf:type owl:Class @@ -140378,72 +200417,62 @@

hasNotificationNumber33
- dcterms:description - "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒT็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใŠใ‚ˆใณCD8้™ฝๆ€งT็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š๏ผŒ้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ1989ๅนดใซใ‚ซใƒŠใƒ€ใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒZAP70้บไผๅญใฎๅค‰็•ฐใŒ็ขบ่ชใ•ใ‚ŒใŸ๏ผŽ" - @jahasNotificationNumber8
dcterms:identifier2200700NANDO:2201060
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "ZAP-70 deficiency" + "Enthesitis-related juvenile idiopathic arthritis" @en
rdfs:label - "ZAP-70ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3005 + rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไป˜็€้ƒจ็‚Ž้–ข้€ฃ้–ข็ฏ€็‚Ž๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_007/https://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010023http://nanbyodata.jp/ontology/NANDO_2200415
skos:prefLabel - "ZAP-70ๆฌ ๆ็—‡" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไป˜็€้ƒจ็‚Ž้–ข้€ฃ้–ข็ฏ€็‚Ž๏ผ‰" @ja
- - + - - - - - - + + - + - + + "unclassifiable Juvenile idiopathic arthritis" + @en + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใถใ‚“ใ‚‹ใ„ใตใฎใ†ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200701 +
http://nanbyodata.jp/ontology/NANDO_2201061 (rdf:type owl:Class @@ -140451,62 +200480,67 @@

hasNotificationNumber36
- dcterms:description - "MHCใ‚ฏใƒฉใ‚นI (HLA class I)ใฏๅ…จใฆใฎๆœ‰ๆ ธ็ดฐ่ƒžใฎ่กจ้ขใซ็™บ็พใ—ใ€ใ‚ฆใ‚ฃใƒซใ‚นใชใฉใฎๆŠ—ๅŽŸใƒšใƒ—ใƒใƒ‰ใ‚’CD8้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅƒใใ‚’ใ™ใ‚‹ใ€‚MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ใฏใ“ใฎๅˆ†ๅญใฎ็™บ็พใŒไฝŽไธ‹ใ™ใ‚‹็–พๆ‚ฃใงใ€Bare lymphocyte syndrome type Iใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200701NANDO:2201061
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_01_001_01.pdf
rdfs:label - "MHCใ‚ฏใƒฉใ‚นโ… ๆฌ ๆ็—‡" - @ja
rdfs:label - "major histocompatibility complex class I deficiency" - @en
+ rdfs:label + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅˆ†้กžไธ่ƒฝ้–ข็ฏ€็‚Ž๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_008/https://www.shouman.jp/disease/details/06_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200415
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019607
skos:prefLabel - "MHCใ‚ฏใƒฉใ‚นโ… ๆฌ ๆ็—‡" + "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅˆ†้กžไธ่ƒฝ้–ข็ฏ€็‚Ž๏ผ‰" @ja
- - + - - - - - - + + - + - + + "Takayasu arteritis with occlusion of aortic arch" + @en + "ใใ‚…ใ†ใถใ‚“ใใธใ„ใใใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200702 +
http://nanbyodata.jp/ontology/NANDO_2201062 (rdf:type owl:Class @@ -140514,62 +200548,72 @@

hasNotificationNumber37
- dcterms:description - "MHCใ‚ฏใƒฉใ‚นIIใฏๅ˜็ƒใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใ€ๆจน็Šถ็ดฐ่ƒžใ€B็ดฐ่ƒžใชใฉใฎๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใ€่ƒธ่…บไธŠ็šฎ็ดฐ่ƒžใซๆ’ๅธธ็š„ใซ็™บ็พใ—ใ€ๅค–ๆฅๆŠ—ๅŽŸ็”ฑๆฅใƒšใƒ—ใƒใƒ‰ใ‚’CD4้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ใฏ1978ๅนดใซๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆŠ—ๅŽŸๆ็คบใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚็ฒๅพ—ๅ…็–ซใŒ่ช˜ๅฐŽใ•ใ‚Œใšใ€ๆถฒๆ€งใƒป็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ€‚Bare lymphocte syndrome type IIใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200702NANDO:2201062
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_007_01.pdf
rdfs:label - "MHCใ‚ฏใƒฉใ‚นโ…กๆฌ ๆ็—‡" - @ja
rdfs:label - "major histocompatibility complex class II deficiency" - @en
+ rdfs:label + "ๅผ“ๅˆ†ๅฒ้–‰ๅกžๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_009/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200423
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "MHCใ‚ฏใƒฉใ‚นโ…กๆฌ ๆ็—‡" + "ๅผ“ๅˆ†ๅฒ้–‰ๅกžๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
- - + - - - - - - + + - + - + + "atypical coarctation type Takayasu arteritis" + @en + "ใ„ใ‘ใ„ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200703 +
http://nanbyodata.jp/ontology/NANDO_2201063 (rdf:type owl:Class @@ -140577,69 +200621,72 @@

hasNotificationNumber38
- dcterms:description - "่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆCID๏ผ‰ใฏT็ดฐ่ƒž็ณปใ€B็ดฐ่ƒž็ณปใฎไธก่€…ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ๅˆไฝตใ—ใŸ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚B็ดฐ่ƒžใซ็•ฐๅธธใŒใชใใฆใ‚‚ใ€B็ดฐ่ƒžใฎๆˆ็†Ÿใซใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใŒๅฟ…่ฆใชใŸใ‚ใ€ใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใฎ้šœๅฎณใฏ็ตๆžœใจใ—ใฆCIDใ‚’็คบใ™ใ€‚2014ๅนดใฎIUISๅ…็–ซไธๅ…จ็—‡ๅˆ†้กžใงใฏใ€CIDใจใ—ใฆ41็–พๆ‚ฃใ€ใใฎไธญใซ14ใฎ้‡็—‡่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆSCID๏ผ‰ใŒๅซใพใ‚Œใ€ใพใŸ็‰นๅพด็š„ใช็—‡็Šถใ‚’ใจใ‚‚ใชใ†CIDใจใ—ใฆ37็–พๆ‚ฃใŒๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200703NANDO:2201063
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_01_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_007_01.pdf
rdfs:label - "1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" - @ja
rdfs:label - "Other combined immunodeficiencies" - @en
+ rdfs:label + "็•ฐๅž‹ๅคงๅ‹•่„ˆ็ธฎ็ช„ๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_01_010/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100203http://nanbyodata.jp/ontology/NANDO_2200423
- skos:altLabel - "combined immunodeficiencies" - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡" + "็•ฐๅž‹ๅคงๅ‹•่„ˆ็ธฎ็ช„ๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200704 +
http://nanbyodata.jp/ontology/NANDO_2201064 (rdf:type owl:Class @@ -140647,79 +200694,72 @@

hasNotificationNumber46
- dcterms:description - "Wiskott-Aldrich็—‡ๅ€™็พค๏ผˆไปฅไธ‹WASใจ็•ฅ๏ผ‰ใฏใ€ใ‚ตใ‚คใ‚บใฎๆธ›ๅฐ‘ใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆนฟ็–นใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’3ไธปๅพดใจใ—ใ€ไธปใซ็”ทๅ…ใซ็™บ็—‡ใ™ใ‚‹XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200704NANDO:2201064
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_007_01.pdf
rdfs:label - "Wiskott-Aldrich syndrome" + "mixed-type Takayasu arteritis" @en
rdfs:label - "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" + "ใ“ใ‚“ใ”ใ†ใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆททๅˆๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3330http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_011/https://www.shouman.jp/disease/details/06_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204
- skos:altLabel - "Wiskott-Aldrich็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200423
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010518http://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค" + "ๆททๅˆๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใ‹ใใกใ‚‡ใ†ใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200705 +
http://nanbyodata.jp/ontology/NANDO_2201065 (rdf:type owl:Class @@ -140727,77 +200767,79 @@

hasNotificationNumber55
- dcterms:description - "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡(Ataxia Telangiectasiaใ€ไปฅไธ‹ATใจ็•ฅ)ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้‹ๅ‹•ๅคฑ่ชฟใจๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200705NANDO:2201065
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_02_007_01.pdf
rdfs:label - "ataxia telangiectasia" + "dilated type Takayasu arteritis" @en
rdfs:label - "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1812 + rdfs:label + "ๆ‹กๅผตๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00064http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1775
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_012/https://www.shouman.jp/disease/details/06_02_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200423
+ skos:altLabel + "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅ‹•่„ˆ็˜คๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008840http://purl.obolibrary.org/obo/MONDO_0017991
skos:prefLabel - "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡" + "ๆ‹กๅผตๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200706 +
http://nanbyodata.jp/ontology/NANDO_2201066 (rdf:type owl:Class @@ -140805,79 +200847,84 @@

hasNotificationNumber52
- dcterms:description - "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber16
dcterms:identifier2200706NANDO:2201066
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_016_01.pdf
rdfs:label - "Nijmegen breakage syndrome" + "Chronic infantileย neurological cutaneous articular syndrome" @en
rdfs:label - "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" + "ใพใ‚“ใ›ใ„ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใฒใตใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2610http://nanbyodata.jp/ontology/NANDO_1200468
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_013/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4535
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200432
skos:altLabel - "NijmegenๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" + "CINCA็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009623http://purl.obolibrary.org/obo/MONDO_0011776
skos:prefLabel - "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค" + "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200707 +
http://nanbyodata.jp/ontology/NANDO_2201067 (rdf:type owl:Class @@ -140885,84 +200932,84 @@

hasNotificationNumber54
- dcterms:description - "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber16
dcterms:identifier2200707NANDO:2201067
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_016_01.pdf
rdfs:label - "Bloom syndrome" + "Muckle-Wells syndrome" @en
rdfs:label - "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" + "ใพใฃใใ‚‹ใƒปใ†ใ‡ใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1849http://nanbyodata.jp/ontology/NANDO_1200467
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01346http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1605
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_014/https://www.shouman.jp/disease/details/06_05_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200432
skos:altLabel - "Bloom็—‡ๅ€™็พค" + "Muckle-Wells็—‡ๅ€™็พค" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008876http://purl.obolibrary.org/obo/MONDO_0008633
skos:prefLabel - "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค" + "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200708 +
http://nanbyodata.jp/ontology/NANDO_2201068 (rdf:type owl:Class @@ -140970,67 +201017,86 @@

hasNotificationNumber45
- dcterms:description - "DNAใƒกใƒใƒซๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber16
dcterms:identifier2200708NANDO:2201068
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_06_05_016_01.pdf
rdfs:label - "ICF syndrome" + "familial cold autoinflammatory syndrome" @en
rdfs:label - "ICF็—‡ๅ€™็พค" + "ใ‹ใžใใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_015/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02159
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/06_05_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200432
+ skos:altLabel + "FCAS" + @en
+ skos:altLabel + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000133http://purl.obolibrary.org/obo/MONDO_0018768
skos:prefLabel - "ICF็—‡ๅ€™็พค" + "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„1" + @ja-Hira - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200709 +
http://nanbyodata.jp/ontology/NANDO_2201069 (rdf:type owl:Class @@ -141038,62 +201104,93 @@

hasNotificationNumber53
- dcterms:description - "DNAใƒŸใ‚นใƒžใƒƒใƒไฟฎๅพฉใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200709NANDO:2201069
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
rdfs:label - "PMS2 deficiency" + "MODY1" + @ja
+ rdfs:label + "Maturity-onset diabetes of the young type 1" @en
rdfs:label - "PMS2็•ฐๅธธ็—‡" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_016/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=433
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200462
+ skos:altLabel + "HNF4A-MODY" + @en
+ skos:altLabel + "MODY1" + @en
+ skos:altLabel + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…1ๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007452
skos:prefLabel - "PMS2็•ฐๅธธ็—‡" + "MODY1" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„2" + @ja-Hira - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200710 +
http://nanbyodata.jp/ontology/NANDO_2201070 (rdf:type owl:Class @@ -141101,72 +201198,93 @@

hasNotificationNumber56
- dcterms:description - "่›‹็™ฝใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200710NANDO:2201070
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
rdfs:label - "RIDDLE syndrome" + "MODY2" + @ja
+ rdfs:label + "Maturity-onset diabetes of the young type 2" @en
rdfs:label - "RIDDLE็—‡ๅ€™็พค" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7037http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=434
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_017/https://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200462
+ skos:altLabel + "GCK-MODY" + @en
+ skos:altLabel + "MODY2" + @en
+ skos:altLabel + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…2ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012764http://purl.obolibrary.org/obo/MONDO_0007453
skos:prefLabel - "RIDDLE็—‡ๅ€™็พค" + "MODY2" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„3" + @ja-Hira - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200711 +
http://nanbyodata.jp/ontology/NANDO_2201071 (rdf:type owl:Class @@ -141174,79 +201292,93 @@

hasNotificationNumber50
- dcterms:description - "ๆŸ“่‰ฒไฝ“ใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจ้€ ่ก€ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200711NANDO:2201071
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
rdfs:label - "Schimke syndrome" + "MODY3" + @ja
+ rdfs:label + "Maturity-onset diabetes of the young type 3" @en
rdfs:label - "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2448http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3717
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_018/https://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200462
skos:altLabel - "Schimke็—‡ๅ€™็พค" + "HNF1A-MODY" + @en
+ skos:altLabel + "MODY3" + @en
+ skos:altLabel + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…3ๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009458http://purl.obolibrary.org/obo/MONDO_0010894
skos:prefLabel - "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค" + "MODY3" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„4" + @ja-Hira - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200712 +
http://nanbyodata.jp/ontology/NANDO_2201072 (rdf:type owl:Class @@ -141254,105 +201386,93 @@

hasNotificationNumber48
- dcterms:description - "ๆŸ“่‰ฒไฝ“22q11.2 ใฎๅพฎ็ดฐๆฌ ๅคฑใ‚’ๅŸบ็›คใจใ—ใฆใ€่ƒธ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ่ก€็ฎก็ณป็•ฐๅธธใ€ๅ‰ฏ็”ฒ็Šถ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€็‰นๅพด็š„ใชๅฃ่“‹้ก”่ฒŒ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200712NANDO:2201072
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
+ rdfs:label + "MODY4" + @ja
rdfs:label - "thymus hypoplasia" + "Maturity-onset diabetes of the young type 4" @en
rdfs:label - "่ƒธ่…บไฝŽๅฝขๆˆ" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1538http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4449
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_019/https://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200462
skos:altLabel - "22q11.2 deletion syndrome" + "MODY4" @en
skos:altLabel - "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค" - @ja
- skos:altLabel - "DiGeorge syndrome" + "PDX1-MODY" @en
skos:altLabel - "ใƒ‡ใ‚ฃใƒปใ‚ธใƒงใƒผใ‚ธ็—‡ๅ€™็พค" + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…4ๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008564
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018923http://purl.obolibrary.org/obo/MONDO_0011667
skos:prefLabel - "่ƒธ่…บไฝŽๅฝขๆˆ" + "MODY4" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„5" + @ja-Hira - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200713 +
http://nanbyodata.jp/ontology/NANDO_2201073 (rdf:type owl:Class @@ -141360,67 +201480,93 @@

hasNotificationNumber49
- dcterms:description - "้ซ˜IgE็—‡ๅ€™็พคใฏใ€้ป„่‰ฒใƒ–ใƒ‰ใ‚ฆ็ƒ่Œใ‚’ไธญๅฟƒใจใ™ใ‚‹็ดฐ่ƒžๅค–ๅฏ„็”Ÿ็ดฐ่Œใซใ‚ˆใ‚‹็šฎ่†š่†ฟ็˜ใจ่‚บ็‚Žใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€่ก€ๆธ…IgEใฎ้ซ˜ๅ€คใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200713NANDO:2201073
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
+ rdfs:label + "MODY5" + @ja
rdfs:label - "hyper-IgE syndrome" + "Maturity-onset diabetes of the young type 5" @en
rdfs:label - "้ซ˜IgE็—‡ๅ€™็พค" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_020/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=661
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200462
+ skos:altLabel + "HNF1B-MODY" + @en
+ skos:altLabel + "MODY5" + @en
+ skos:altLabel + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…5ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018037http://purl.obolibrary.org/obo/MONDO_0007669
skos:prefLabel - "้ซ˜IgE็—‡ๅ€™็พค" + "MODY5" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200714 +
http://nanbyodata.jp/ontology/NANDO_2201074 (rdf:type owl:Class @@ -141428,72 +201574,62 @@

hasNotificationNumber47
- dcterms:description - "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–ใจ่‚่„พ่…ซใŠใ‚ˆใณไบŒๆฌก็š„ใช่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200714NANDO:2201074
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
rdfs:label - "hepatic venoocclusive immunodeficiency" + "other maturity-onset diabetes of the young" @en
rdfs:label - "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2325 + rdfs:label + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆใใฎไป–๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_021/https://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009338http://nanbyodata.jp/ontology/NANDO_2200462
skos:prefLabel - "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡" + "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆใใฎไป–๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200715 +
http://nanbyodata.jp/ontology/NANDO_2201075 (rdf:type owl:Class @@ -141501,72 +201637,91 @@

hasNotificationNumber51
- dcterms:description - "ใƒ†ใƒญใƒกใ‚ข้•ทใฎ็ถญๆŒๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’่ƒŒๆ™ฏใจใ—ใ€็ˆชใฎ่Ž็ธฎใ€ๅฃ่…”ๅ†…็™ฝๆ–‘ใ€็šฎ่†š่‰ฒ็ด ๆฒˆ็€ใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„ใชๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ใฎไป–ใซ๏ผŒๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹Hoyeraal-Hreidarsson็—‡ๅ€™็พคใ€Revesz็—‡ๅ€™็พคใฎไป–ใ€ไธๅ…จๅž‹ใงใ‚ใ‚‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚„ๅฎถๆ—ๆ€ง่‚บ็ทš็ถญ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber17
dcterms:identifier2200715NANDO:2201075
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_02_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_001_01.pdf
rdfs:label - "dyskeratosis congenita" + "Phenylalanine hydroxylase deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" + "ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00507http://nanbyodata.jp/ontology/NANDO_1200785
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_02_022/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100204http://nanbyodata.jp/ontology/NANDO_2200467
+ skos:altLabel + "PAH deficiency" + @en
+ skos:altLabel + "PAHๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015780http://purl.obolibrary.org/obo/MONDO_0009861
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡" + "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + + "ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - + + + + + - + + "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡" + @ja - +
http://nanbyodata.jp/ontology/nando#2200716 +
http://nanbyodata.jp/ontology/NANDO_2201076 (rdf:type owl:Class @@ -141574,79 +201729,84 @@

hasNotificationNumber2
- dcterms:description - "็ดฐ่Œๆ„ŸๆŸ“ใซ็ฝนใ‚Šใ‚„ใ™ใใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgGใ€IgAใ€IgMใ€ใ™ในใฆใฎใ‚ฏใƒฉใ‚นใฎๅ€คใฎไฝŽไธ‹ใŒ่‘—ใ—ใใ€ๆœซๆขข่ก€B็ดฐ่ƒžๆฏ”็Ž‡ใŒ2%ไปฅไธ‹ใฎ็”ทๅญใฎๅ ดๅˆใ€X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆX-linked agammaglobulinemia: XLA๏ผ‰ใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber17
dcterms:identifier2200716NANDO:2201076
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_001_01.pdf
rdfs:label - "X-linked agammaglobulinaemia" + "BH4ๆฌ ๆ็—‡" + @ja
+ rdfs:label + "Tetrahydrobiopterin deficiency" @en
rdfs:label - "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7155http://nanbyodata.jp/ontology/NANDO_1200786
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_023/http://nanbyodata.jp/ontology/NANDO_2200594
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200467
skos:altLabel - "XLA" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010421http://purl.obolibrary.org/obo/MONDO_0016543
skos:prefLabel - "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" + "BH4ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200717 +
http://nanbyodata.jp/ontology/NANDO_2201077 (rdf:type owl:Class @@ -141654,79 +201814,81 @@

hasNotificationNumber7
- dcterms:description - "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆcommon variable immunodeficiency: CVID๏ผ‰ใฏไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใŸใ‚ใซ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏ่ชใ‚ใ‚‰ใ‚Œใšใ€20๏ฝž40ไปฃใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅฐๅ…ใ‚„้ซ˜้ฝข่€…ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber17
dcterms:identifier2200717NANDO:2201077
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_001_01.pdf
rdfs:label - "common variable immunodeficiency" + "BH4-responsive hyperphenylalaninemia" @en
rdfs:label - "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" + "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡" @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00088 + rdfs:label + "ใณใƒผใˆใ„ใก4ใฏใ‚“ใฎใ†ใ›ใ„ใ“ใ†ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_024/https://www.shouman.jp/disease/details/08_01_001/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200467
skos:altLabel - "CVID" + "BH4-responsive hyperphenylalaninaemia" + @en
+ skos:altLabel + "Tetrahydrobiopterin-responsive hyperphenylalaninemia" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015517http://purl.obolibrary.org/obo/MONDO_0017389
skos:prefLabel - "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡" + "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + "ใ“ใฆใ‚“ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200718 +
http://nanbyodata.jp/ontology/NANDO_2201078 (rdf:type owl:Class @@ -141734,77 +201896,74 @@

hasNotificationNumber3
- dcterms:description - "B็ดฐ่ƒžใฎๅ†…ๅ› ๆ€งใฎใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๆธ…IgMๅ€คใŒๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚Šใ€ๆœ€่ฟ‘ใฏใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ็•ฐๅธธ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200718NANDO:2201078
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_007_01.pdf
rdfs:label - "Hyper-IgM syndrome" + "classic form maple syrup urine disease" @en
rdfs:label - "้ซ˜IgM็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3451 + rdfs:label + "ๅคๅ…ธๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_025/https://www.shouman.jp/disease/details/08_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200473
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003947 + skos:altLabel + "classic MSUD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010626http://purl.obolibrary.org/obo/MONDO_0017051
skos:prefLabel - "้ซ˜IgM็—‡ๅ€™็พค" + "ๅคๅ…ธๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
- - + - - - - - - + + - + - + + "intermediate maple syrup urine disease" + @en + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200719 +
http://nanbyodata.jp/ontology/NANDO_2201079 (rdf:type owl:Class @@ -141812,72 +201971,67 @@

hasNotificationNumber1
- dcterms:description - "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚น๏ผˆIgG1, IgG2, IgG3, IgG4๏ผ‰ใฎใ†ใก1ใคใชใ„ใ—ใฏใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใฎๆฌ ๆใชใ‚‰ใณใซไฝŽไธ‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚IgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚IgG2ๆฌ ๆ็—‡ใฏIgG4ๆฌ ๆ็—‡ใ€ใ•ใ‚‰ใซใฏIgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200719NANDO:2201079
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_007_01.pdf
rdfs:label - "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" - @ja
rdfs:label - "Isolated IgG subclass deficiency" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7815 + rdfs:label + "ไธญ้–“ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_026/https://www.shouman.jp/disease/details/08_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200473
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013576http://purl.obolibrary.org/obo/MONDO_0017052
skos:prefLabel - "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡" + "ไธญ้–“ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200720 +
http://nanbyodata.jp/ontology/NANDO_2201080 (rdf:type owl:Class @@ -141885,67 +202039,67 @@

hasNotificationNumber4
- dcterms:description - "้ธๆŠž็š„IgAๆฌ ๆ็—‡ใฏ4ๆญณไปฅไธŠใง่ก€ๆธ…IgAๅ€คใŒ7mg/dLไปฅไธ‹ใงใ€่ก€ๆธ…IgGใŠใ‚ˆใณIgMๅ€คใŒๆญฃๅธธใชๆ‚ฃ่€…ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200720NANDO:2201080
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_007_01.pdf
rdfs:label - "Selective IgA deficiency" + "intermittent maple syrup urine disease" @en
rdfs:label - "้ธๆŠž็š„IgAๆฌ ๆ" + "ใ‹ใ‚“ใ‘ใคใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้–“ๆฌ ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_027/https://www.shouman.jp/disease/details/08_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200473
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001341http://purl.obolibrary.org/obo/MONDO_0017053
skos:prefLabel - "้ธๆŠž็š„IgAๆฌ ๆ" + "้–“ๆฌ ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200721 +
http://nanbyodata.jp/ontology/NANDO_2201081 (rdf:type owl:Class @@ -141953,62 +202107,67 @@

hasNotificationNumber5
- dcterms:description - "2ๆญณไปฅไธŠใงใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใชใ‚‰ใณใซIgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใŒๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅคš็ณ–ไฝ“ๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹IgGๆŠ—ไฝ“ๅๅฟœใฎๆฌ ๅฆ‚ใฎใŸใ‚ใ€ๅๅพฉๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200721NANDO:2201081
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_007_01.pdf
rdfs:label - "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" + "thiamine-responsive maple syrup urine disease" @en
rdfs:label - "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" + "ใกใ‚ใฟใ‚“ใฏใ‚“ใฎใ†ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒใ‚ขใƒŸใƒณๅๅฟœๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_028/https://www.shouman.jp/disease/details/08_01_007/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200473
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017054
skos:prefLabel - "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡" + "ใƒใ‚ขใƒŸใƒณๅๅฟœๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200722 +
http://nanbyodata.jp/ontology/NANDO_2201082 (rdf:type owl:Class @@ -142016,62 +202175,67 @@

hasNotificationNumber6
- dcterms:description - "6ใ‹ๆœˆไปฅ้™ใฎไนณๅ…ใง่ก€ๆธ…IgGๅ€คใŒๅนด้ฝข็›ธๅฝ“ใฎ-2SDๆœชๆบ€ใงใ€IgAใŠใ‚ˆใณIgMใŒๆญฃๅธธใงใ‚ใ‚Šใ€ใใฎไป–ใฎๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใŒๅฆๅฎšใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber19
dcterms:identifier2200722NANDO:2201082
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_008_01.pdf
rdfs:label - "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" + "chronic progressive homocystinuria" @en
rdfs:label - "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_029/https://www.shouman.jp/disease/details/08_01_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200474
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0004737
skos:prefLabel - "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡" + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" @ja
- - + - - - - - - + + - + - + + "vitamin B6-responsive homocystinuria" + @en + "ใณใŸใฟใ‚“ใณใƒผ6ใฏใ‚“ใฎใ†ใŒใŸใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200723 +
http://nanbyodata.jp/ontology/NANDO_2201083 (rdf:type owl:Class @@ -142079,62 +202243,72 @@

hasNotificationNumber8
- dcterms:description - "ๅๅพฉๆ€งใฎไธŠไธ‹ๆฐ—้“ๆ„ŸๆŸ“ใฎๅญ˜ๅœจใ‹ใ‚‰ๆถฒๆ€งๅ…็–ซไธๅ…จ็—‡๏ผˆๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡๏ผ‰ใŒ็–‘ใ‚ใ‚Œใ‚‹ใŒใ€ๅ‰่ฟฐใฎใ‚ˆใ†ใชๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใชใ„็–พๆ‚ฃใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber19
dcterms:identifier2200723NANDO:2201083
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_03_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_008_01.pdf
rdfs:label - "23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" - @ja
rdfs:label - "Other predominantly antibody deficiencies" - @en
+ rdfs:label + "ใƒ“ใ‚ฟใƒŸใƒณB6ๅๅฟœๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_03_030/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2338
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_01_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100205http://nanbyodata.jp/ontology/NANDO_2200474
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009352
skos:prefLabel - "23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ" + "ใƒ“ใ‚ฟใƒŸใƒณB6ๅๅฟœๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡" @ja
- - + - - - - - - + + - + - + + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - - + "NAGSD" + @en - +
http://nanbyodata.jp/ontology/nando#2200724 +
http://nanbyodata.jp/ontology/NANDO_2201084 (rdf:type owl:Class @@ -142142,96 +202316,86 @@

hasNotificationNumber43
- dcterms:description - "CHSใฏใ€็ดฐ่ƒžๅ†…่›‹็™ฝ่ผธ้€ใซใ‹ใ‹ใ‚ใ‚‹CHS1/LYST้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็™ฝ่ก€็ƒๅ†…ใฎๅทจๅคง้ก†็ฒ’ใ‚’็‰นๅพดใจใ—ใ€้ƒจๅˆ†็š„็™ฝๅญ็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใชใฉใ‚’็คบใ™ใ€‚ๆœ€่ฟ‘ใฏใ€็™ฝๅญ็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใฎไธ€ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber3
dcterms:identifier2200724NANDO:2201084
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_011_01.pdf
rdfs:label - "Chediak-Higashi syndrome" + "presymptomatic N-acetylglutamate synthetase deficiency" @en
rdfs:label - "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1940 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02021http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2365
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_031/https://www.shouman.jp/disease/details/08_01_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100206http://nanbyodata.jp/ontology/NANDO_2200477
skos:altLabel - "CHS" + "NAGS deficiency" @en
skos:altLabel - "Chediak-Higashi็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008963
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100094http://purl.obolibrary.org/obo/MONDO_0009377
skos:prefLabel - "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค" + "็™บ็—‡ๅ‰ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200725 +
http://nanbyodata.jp/ontology/NANDO_2201085 (rdf:type owl:Class @@ -142239,89 +202403,72 @@

hasNotificationNumber41
- dcterms:description - "XLPใฏใ€EBใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹็‰น็•ฐ็š„ๅ…็–ซๅฟœ็ญ”ใฎๆฌ ้™ฅใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๅŽŸๅ› ้บไผๅญใŒ2ใค็Ÿฅใ‚‰ใ‚Œใ€SAP/SH2D1A้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹SAP (SLAM-associated protein) ๆฌ ๆ็—‡ใ‚’XLP1ใ€XIAP/BIRC4้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹XIAP (X-linked inhibitor of apoptosis) ๆฌ ๆ็—‡ใ‚’XLP2ใจๅ‘ผใถใ€‚" - @jahasNotificationNumber3
dcterms:identifier2200725NANDO:2201085
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_011_01.pdf
rdfs:label - "X-linked lymphoproliferative syndrome" + "neonatal-onset N-acetylglutamate synthetase deficiency" @en
rdfs:label - "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3452http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2365
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_032/https://www.shouman.jp/disease/details/08_01_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100206
- skos:altLabel - "XLP" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010420http://nanbyodata.jp/ontology/NANDO_2200477
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010627
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024551http://purl.obolibrary.org/obo/MONDO_0009377
skos:prefLabel - "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใกใฏใคใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200726 +
http://nanbyodata.jp/ontology/NANDO_2201086 (rdf:type owl:Class @@ -142329,96 +202476,79 @@

hasNotificationNumber42
- dcterms:description - "ALPSใฏใ‚ขใƒใƒˆใƒผใ‚ทใ‚น๏ผˆ็ดฐ่ƒžๆญป๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใ‚Šใƒชใƒณใƒ‘็ƒๅข—ๆฎ–ใ‚’ใใŸใ—ใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ‚„่‚่„พ่…ซใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’็คบใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚FASไพๅญ˜ใฎ็ดฐ่ƒžๆญป็ตŒ่ทฏใซใ‹ใ‹ใ‚ใ‚‹FASใ€FASใƒชใ‚ฌใƒณใƒ‰ใ€ใ‚ซใ‚นใƒšใƒผใ‚น10ใฎ้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚CD3+ TCRฮฑฮฒ+ CD4- CD8- ใฎใƒ€ใƒ–ใƒซใƒใ‚ฌใƒ†ใ‚ฃใƒ–T็ดฐ่ƒžใฎๅข—ๅŠ ใŒ็‰น่‰ฒใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber3
dcterms:identifier2200726NANDO:2201086
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_011_01.pdf
rdfs:label - "autoimmune lymphoproliferative syndrome" + "late-onset N-acetylglutamate synthetase deficiency" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3977 + rdfs:label + "้…็™บๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00108http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2365
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_033/https://www.shouman.jp/disease/details/08_01_011/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100206http://nanbyodata.jp/ontology/NANDO_2200477
skos:altLabel - "ALPS" + "late-onset NAGSD" @en
- skos:altLabel - "ALPS" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011158
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017979http://purl.obolibrary.org/obo/MONDO_0009377
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค" + "้…็™บๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "presymptomatic carbamoylphosphate synthetase deficiency" + @en + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200727 +
http://nanbyodata.jp/ontology/NANDO_2201087 (rdf:type owl:Class @@ -142426,62 +202556,62 @@

hasNotificationNumber44
- dcterms:description - "ใ‚ญใƒฉใƒผ๏ผด็ดฐ่ƒžใ‚„NK็ดฐ่ƒžใฎๆ„ŸๆŸ“็ดฐ่ƒžใชใฉใฎๆŽ’้™คๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ…็–ซๅๅฟœใฎๅˆถๅพก็•ฐๅธธใŒใŠใใŸใ‚Šใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใซใ‚ˆใ‚Š่‡ชๅทฑๆŠ—ไฝ“็”ฃ็”Ÿใ‚’ใใŸใ™็–พๆ‚ฃใ‚’ๅซใ‚€ใ€‚2014ๅนดใฎIUISๅˆ†้กžใซใŠใ„ใฆใ€31ใ‹ใ‚‰33ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใจใ—ใฆใ€ไธ‹่จ˜ใŒใ‚ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใฏๆฏŽๅนดๆ–ฐใ—ใ„ๅŽŸๅ› ้บไผๅญใ‚„็–พๆ‚ฃใŒ่ฆ‹ๅ‡บใ•ใ‚ŒใฆใŠใ‚Šใ€ใใฎ้ƒฝๅบฆใ€ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ่ฟฝๅŠ ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ—ข็Ÿฅใฎ็–พๆ‚ฃใซๅฎŒๅ…จใซไธ€่‡ดใ—ใชใ„ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚„่จบๆ–ญใซใคใ„ใฆๅฐ‚้–€็š„ใชๆคœ่จŽใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใŒ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ€Primary Immunodeficiency Database in Japan (PIDJ) (http://pidj.rcai.riken.jp/) ใฎๆ‚ฃ่€…็›ธ่ซ‡ใƒ•ใ‚ฉใƒผใƒ ใง็›ธ่ซ‡ใ™ใ‚‹ใ“ใจใŒๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใจใใฎ้กž็ธ็–พๆ‚ฃใ€‚ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡๏ผˆFHL2๏ผ‰ใ€UNC13D/Munc13-4ๆฌ ๆ็—‡๏ผˆFHL3๏ผ‰ใ€Syntaxin11ๆฌ ๆ็—‡๏ผˆFHL4๏ผ‰ใ€STXBP2/Munc18-2ๆฌ ๆ็—‡๏ผˆFHL5๏ผ‰ใ€Gricelli็—‡ๅ€™็พค2ๅž‹ใ€Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พคใ€‚ITKๆฌ ๆ็—‡ใ€CD27ๆฌ ๆ็—‡ๅˆถๅพกๆ€งT็ดฐ่ƒžใฎ้บไผๅญ็š„ๆฌ ้™ฅใ€‚IPEX็—‡ๅ€™็พคใ€CD25ๆฌ ๆ็—‡ใ€STAT5bๆฌ ๆ็—‡ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ใ‚’ไผดใ‚ใชใ„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆAPECED๏ผ‰ใ€ITCHๆฌ ๆ็—‡่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค๏ผˆALPS๏ผ‰้กž็ธ็–พๆ‚ฃใ€‚ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ใ€FADDๆฌ ๆ็—‡ใ€CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใ€PRKCฮดๆฌ ๆ็—‡่…ธ็‚Žใ‚’ไผดใ†ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ€‚IL-10ๆฌ ๆ็—‡ใ€IL-10Rฮฑๆฌ ๆ็—‡ใ€IL-10Rฮฒๆฌ ๆ็—‡Iๅž‹ใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ็•ฐๅธธ็—‡ใ€‚TREX1ๆฌ ๆ็—‡๏ผˆAicardiโ€“Goutieres็—‡ๅ€™็พค1, AGS1๏ผ‰ใ€RNASEH2Bๆฌ ๆ็—‡๏ผˆAGS2๏ผ‰ใ€RNASEH2Cๆฌ ๆ็—‡๏ผˆAGS3๏ผ‰ใ€RNASEH2Aๆฌ ๆ็—‡๏ผˆAGS4a๏ผ‰ใ€SAMHD1ๆฌ ๆ็—‡๏ผˆAGS5๏ผ‰ใ€ADAR1ๆฌ ๆ็—‡๏ผˆAGS6๏ผ‰ใ€Spondylo enchondro-dysplasiawith immune dysregulation (SPENCD)ใ€‚" - @jahasNotificationNumber5
dcterms:identifier2200727NANDO:2201087
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_012_01.pdf
rdfs:label - "31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" - @ja
rdfs:label - "Other diseases of immune dysregulation" - @en
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100206http://nanbyodata.jp/ontology/NANDO_2200478
skos:prefLabel - "31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ" + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200728 +
http://nanbyodata.jp/ontology/NANDO_2201088 (rdf:type owl:Class @@ -142489,79 +202619,72 @@

hasNotificationNumber44hasNotificationNumber5
dcterms:identifier2200728NANDO:2201088
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_012_01.pdf
rdfs:label - "FHL2" + "neonatal-onset carbamoyl phosphate synthetase deficiency" @en
rdfs:label - "ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4156http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2364
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "familial hemophagocytic lymphohistiocytosis 2" - @en
- skos:altLabel - "perforin deficiency" - @enhttp://nanbyodata.jp/ontology/NANDO_2200478
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011337http://purl.obolibrary.org/obo/MONDO_0009376
skos:prefLabel - "ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200729 +
http://nanbyodata.jp/ontology/NANDO_2201089 (rdf:type owl:Class @@ -142569,72 +202692,72 @@

hasNotificationNumber44hasNotificationNumber5
dcterms:identifier2200729NANDO:2201089
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_012_01.pdf
rdfs:label - "FHL3" + "late-onset carbamoylphosphate synthetase deficiency" @en
rdfs:label - "UNC13D/Munc13-4ๆฌ ๆ็—‡" + "ใกใฏใคใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6418http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2364
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_012/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "familial hemophagocytic lymphohistiocytosis 3" - @enhttp://nanbyodata.jp/ontology/NANDO_2200478
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012146http://purl.obolibrary.org/obo/MONDO_0009376
skos:prefLabel - "UNC13D/Munc13-4ๆฌ ๆ็—‡" + "้…็™บๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200730 +
http://nanbyodata.jp/ontology/NANDO_2201090 (rdf:type owl:Class @@ -142642,72 +202765,62 @@

hasNotificationNumber44hasNotificationNumber4
dcterms:identifier2200730NANDO:2201090
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_013_01.pdf
rdfs:label - "FHL4" + "Presymptomatic ornitine transcarbamylase deficiency" @en
rdfs:label - "Syntaxin11ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4155 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "familial hemophagocytic lymphohistiocytosis 4" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011336http://nanbyodata.jp/ontology/NANDO_2200479
skos:prefLabel - "Syntaxin11ๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200731 +
http://nanbyodata.jp/ontology/NANDO_2201091 (rdf:type owl:Class @@ -142715,72 +202828,72 @@

hasNotificationNumber44hasNotificationNumber4
dcterms:identifier2200731NANDO:2201091
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_013_01.pdf
rdfs:label - "FHL5" + "Neonatal-onset ornitine transcarbamylase deficiency" @en
rdfs:label - "STXBP2/Munc18-2ๆฌ ๆ็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7346http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3533
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "familial hemophagocytic lymphohistiocytosis 5" - @enhttp://nanbyodata.jp/ontology/NANDO_2200479
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013135http://purl.obolibrary.org/obo/MONDO_0010703
skos:prefLabel - "STXBP2/Munc18-2ๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "Late-onset ornitine transcarbamylase deficiency" + @en + "ใกใฏใคใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200732 +
http://nanbyodata.jp/ontology/NANDO_2201092 (rdf:type owl:Class @@ -142788,65 +202901,72 @@

hasNotificationNumber44hasNotificationNumber4
dcterms:identifier2200732NANDO:2201092
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_013_01.pdf
rdfs:label - "Gricelli็—‡ๅ€™็พค2ๅž‹" - @ja
rdfs:label - "Griscelli syndromeย typeย 2" - @en
+ rdfs:label + "้…็™บๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4620http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3533
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_013/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727http://nanbyodata.jp/ontology/NANDO_2200479
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011872http://purl.obolibrary.org/obo/MONDO_0010703
skos:prefLabel - "Gricelli็—‡ๅ€™็พค2ๅž‹" + "้…็™บๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200733 +
http://nanbyodata.jp/ontology/NANDO_2201093 (rdf:type owl:Class @@ -142854,72 +202974,62 @@

hasNotificationNumber44hasNotificationNumber1
dcterms:identifier2200733NANDO:2201093
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_014_01.pdf
rdfs:label - "Hermansky-Pudlak syndromeย typeย 2" + "presymptomatic argininosuccinate synthetase deficiency" @en
rdfs:label - "Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4721 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "HPS-2" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011997http://nanbyodata.jp/ontology/NANDO_2200480
skos:prefLabel - "Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹" + "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200734 +
http://nanbyodata.jp/ontology/NANDO_2201094 (rdf:type owl:Class @@ -142927,72 +203037,74 @@

hasNotificationNumber44hasNotificationNumber1
dcterms:identifier2200734NANDO:2201094
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_014_01.pdf
rdfs:label - "IL-2-inducible T-cell kinaseย deficiency" + "neonatal-onset argininosuccinate synthetase deficiency" @en
rdfs:label - "ITKๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7308 + rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727http://nanbyodata.jp/ontology/NANDO_2200480
skos:altLabel - "ITKย deficiency" + "neonatal-onset ASD" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013081http://purl.obolibrary.org/obo/MONDO_0016600
skos:prefLabel - "ITKๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใกใฏใคใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200735 +
http://nanbyodata.jp/ontology/NANDO_2201095 (rdf:type owl:Class @@ -143000,77 +203112,67 @@

hasNotificationNumber44hasNotificationNumber1
dcterms:identifier2200735NANDO:2201095
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_014_01.pdf
rdfs:label - "CD27 deficiency" + "late-onset argininosuccinate synthetase deficiency" @en
rdfs:label - "CD27ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8335 + rdfs:label + "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_014/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "Combined immunodeficiency due toย CD27 deficiency" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014054http://nanbyodata.jp/ontology/NANDO_2200480
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016536http://purl.obolibrary.org/obo/MONDO_0016601
skos:prefLabel - "CD27ๆฌ ๆ็—‡" + "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "presymptomatic argininosuccinic aciduria" + @en + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200736 +
http://nanbyodata.jp/ontology/NANDO_2201096 (rdf:type owl:Class @@ -143078,65 +203180,62 @@

hasNotificationNumber44hasNotificationNumber2
dcterms:identifier2200736NANDO:2201096
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_015_01.pdf
rdfs:label - "CD25ๆฌ ๆ็—‡" - @ja
rdfs:label - "Immunodeficiency 41 with lymphoproliferation and autoimmunity" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6629 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011664http://nanbyodata.jp/ontology/NANDO_2200481
skos:prefLabel - "CD25ๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200737 +
http://nanbyodata.jp/ontology/NANDO_2201097 (rdf:type owl:Class @@ -143144,72 +203243,72 @@

hasNotificationNumber44hasNotificationNumber2
dcterms:identifier2200737NANDO:2201097
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_015_01.pdf
rdfs:label - "Growth hormone insensitivity with immunodeficiency" + "neonatal-onset argininosuccinic aciduria" @en
rdfs:label - "STAT5bๆฌ ๆ็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2500http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1786
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "STAT5b deficiency" - @enhttp://nanbyodata.jp/ontology/NANDO_2200481
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009510http://purl.obolibrary.org/obo/MONDO_0008815
skos:prefLabel - "STAT5bๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200738 +
http://nanbyodata.jp/ontology/NANDO_2201098 (rdf:type owl:Class @@ -143217,72 +203316,79 @@

hasNotificationNumber44hasNotificationNumber2
dcterms:identifier2200738NANDO:2201098
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_015_01.pdf
rdfs:label - "APECED" + "late-onset argininosuccinic aciduria" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡" + "ใกใฏใคใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2401http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1786
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727http://nanbyodata.jp/ontology/NANDO_2200481
skos:altLabel - "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" + "late-onset ASA" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009411http://purl.obolibrary.org/obo/MONDO_0008815
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡" + "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡" @ja
- - + - - + + - + - + + "Presymptomatic hyperargininemia" + @en + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - - - -
http://nanbyodata.jp/ontology/nando#2200739 +
http://nanbyodata.jp/ontology/NANDO_2201099 (rdf:type owl:Class @@ -143290,67 +203396,69 @@

hasNotificationNumber44hasNotificationNumber6
dcterms:identifier2200739NANDO:2201099
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_016_01.pdf
rdfs:label - "ITCHๆฌ ๆ็—‡" - @ja
rdfs:label - "Syndromic multisystem autoimmune disease due to Itch deficiency" - @en
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727http://nanbyodata.jp/ontology/NANDO_2200482
skos:altLabel - "ITCHย E3 ubiquitin ligaseย deficiency" + "Presymptomatic hyperargininaemia" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013245
skos:prefLabel - "ITCHๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200740 +
http://nanbyodata.jp/ontology/NANDO_2201100 (rdf:type owl:Class @@ -143358,79 +203466,79 @@

hasNotificationNumber44hasNotificationNumber6
dcterms:identifier2200740NANDO:2201100
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_016_01.pdf
rdfs:label - "Caspase-8 deficiency" + "Neonatal-onset hyperargininemia" @en
rdfs:label - "ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4559http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1785
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "ALPS2B" - @enhttp://nanbyodata.jp/ontology/NANDO_2200482
skos:altLabel - "autoimmune lymphoproliferative syndrome type 2B" + "Neonatal-onset hyperargininaemia" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011804http://purl.obolibrary.org/obo/MONDO_0008814
skos:prefLabel - "ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + "Late-onset hyperarginemia" + @en + "ใกใฏใคใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200741 +
http://nanbyodata.jp/ontology/NANDO_2201101 (rdf:type owl:Class @@ -143438,79 +203546,79 @@

hasNotificationNumber44hasNotificationNumber6
dcterms:identifier2200741NANDO:2201101
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_01_016_01.pdf
rdfs:label - "FADDๆฌ ๆ็—‡" - @ja
rdfs:label - "Fas-associated death domain proteinย deficiency" - @en
+ rdfs:label + "้…็™บๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7671http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1785
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_01_016/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727
- skos:altLabel - "FADD-related immunodeficiency" - @enhttp://nanbyodata.jp/ontology/NANDO_2200482
skos:altLabel - "FADDย deficiency" + "Late-onset hyperarginaemia" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013408http://purl.obolibrary.org/obo/MONDO_0008814
skos:prefLabel - "FADDๆฌ ๆ็—‡" + "้…็™บๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200742 +
http://nanbyodata.jp/ontology/NANDO_2201102 (rdf:type owl:Class @@ -143518,55 +203626,69 @@

hasNotificationNumber44hasNotificationNumber110
dcterms:identifier2200742NANDO:2201102
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "CARD11 gain-of-function mutations" + "Presymptomatic methylmalonic acidemia" @en
rdfs:label - "CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ" + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727http://nanbyodata.jp/ontology/NANDO_2200491
+ skos:altLabel + "Presymptomatic methylmalonic acidaemia" + @en
skos:prefLabel - "CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ" + "็™บ็—‡ๅ‰ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + +
http://nanbyodata.jp/ontology/nando#2200743 +
http://nanbyodata.jp/ontology/NANDO_2201103 (rdf:type owl:Class @@ -143574,86 +203696,144 @@

hasNotificationNumber44hasNotificationNumber110
dcterms:identifier2200743NANDO:2201103
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "PKCฮด deficiency" + "Acute-onset methylmalonic acidemia" @en
rdfs:label - "PRKCฮดๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8550 + rdfs:label + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/https://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727http://nanbyodata.jp/ontology/NANDO_2200491
skos:altLabel - "ALPS3" + "Acute-onset methylmalonic acidaemia" @en
- skos:altLabel + skos:prefLabel - "CVID9" + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" + @ja
+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + "Methylmalonic acidaemia, chronic progressive form" + @en - +
http://nanbyodata.jp/ontology/NANDO_2201104 + (rdf:type + + owl:Class + ) + +
hasNotificationNumber110
+ dcterms:identifierNANDO:2201104
+ dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
+ rdfs:label + "Methylmalonic acidemia, chronic progressive form" @en
+ rdfs:label + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" + @ja
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_023/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200491
skos:altLabel - "PKCฮดๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014253http://purl.obolibrary.org/obo/MONDO_0002012
skos:prefLabel - "PRKCฮดๆฌ ๆ็—‡" + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡" @ja
- - + - - + + - + - + + "Methylmalonic acidemia cblA type" + @en + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใƒผ" + @ja-Hira + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200744 +
http://nanbyodata.jp/ontology/NANDO_2201105 (rdf:type owl:Class @@ -143661,72 +203841,84 @@

hasNotificationNumber44hasNotificationNumber110
dcterms:identifier2200744NANDO:2201105
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_04_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "SPENCDI" - @ja
rdfs:label - "Spondylo enchondro-dysplasiawith immune dysregulation" - @en
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4679http://nanbyodata.jp/ontology/NANDO_1200795
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_04_034/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2599
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200727http://nanbyodata.jp/ontology/NANDO_2200491
skos:altLabel - "SPENCDI" + "Methylmalonic acidaemia cblA type" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011939http://purl.obolibrary.org/obo/MONDO_0009613
skos:prefLabel - "SPENCDI" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200745 +
http://nanbyodata.jp/ontology/NANDO_2201106 (rdf:type owl:Class @@ -143734,67 +203926,84 @@

hasNotificationNumber10
- dcterms:description - "้ชจ้ซ„ใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใ€‚ไธญ่€ณ็‚Žใ€ๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่œ‚็ชฉ็น”็‚Žใ€็šฎ่†šๆ„ŸๆŸ“็—‡ใ‚’ๅๅพฉใ—ใ€ๆ™‚ใซๆ•—่ก€็—‡ใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่จบๆ–ญใฏ้ชจ้ซ„ๆคœๆŸปใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใงใ‚ใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใ€็—…ๅž‹ๅˆ†้กžใซใฏ้บไผๅญๅค‰็•ฐใฎๅŒๅฎšใŒๅฟ…่ฆใจใชใ‚‹ใ€‚STๅˆๅ‰คใฎไบˆ้˜ฒๆŠ•ไธŽใ‚„G-CSFใฎๆŠ•ไธŽใฏๆ„ŸๆŸ“้ ปๅบฆใฎๆธ›ๅฐ‘ใจๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใๆ”นๅ–„ใ™ใ‚‹ใ€‚" - @jahasNotificationNumber110
dcterms:identifier2200745NANDO:2201106
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "severe congenital neutropenia" + "Methylmalonic acidemia cblB type" @en
rdfs:label - "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใณใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_035/http://nanbyodata.jp/ontology/NANDO_1200796
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2600
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200491
+ skos:altLabel + "Methylmalonic acidaemia cblB type" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018542http://purl.obolibrary.org/obo/MONDO_0009614
skos:prefLabel - "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200746 +
http://nanbyodata.jp/ontology/NANDO_2201107 (rdf:type owl:Class @@ -143802,72 +204011,72 @@

hasNotificationNumber9
- dcterms:description - "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใผๅ…จไพ‹ใงๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ๏ผˆELANE๏ผ‰้บไผๅญใซๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚14๏ฝž35ๆ—ฅๅ‘จๆœŸ๏ผˆๅคšใใฏ21ๆ—ฅๅ‘จๆœŸ๏ผ‰ใงๅฅฝไธญ็ƒใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ้š›ใ€ๆ„ŸๆŸ“็—‡ใซ็ฝนๆ‚ฃใ™ใ‚‹ใŒ3ใ€œ5ๆ—ฅใงๅ›žๅพฉใ™ใ‚‹ใ€‚้€šๅธธใฏๅนด้ฝขใจๅ…ฑใซ่‡ช็„ถ่ปฝๅฟซใ™ใ‚‹่‰ฏๆ€ง็–พๆ‚ฃใงใ€ๆฒป็™‚ใจใ—ใฆใฏSTๅˆๅ‰คใซใ‚ˆใ‚‹ๆ„ŸๆŸ“ไบˆ้˜ฒใ‚„ๅฃ่…”ใ‚ฑใ‚ข็ญ‰ใฎๆ”ฏๆŒ็™‚ๆณ•ใŒใใฎไธปไฝ“ใจใชใ‚‹ใ€‚" - @jahasNotificationNumber110
dcterms:identifier2200746NANDO:2201107
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "cyclic neutropenia" + "Methylmalonic aciduria and homocystinuria, cblC type" @en
rdfs:label - "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ—ใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblC" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1079http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3171
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_036/https://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200491
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008090http://purl.obolibrary.org/obo/MONDO_0010184
skos:prefLabel - "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblC" @ja
- - + - - + + - + - + + "Methylmalonic acidemia CblD type" + @en + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใงใƒใƒผ" + @ja-Hira + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200747 +
http://nanbyodata.jp/ontology/NANDO_2201108 (rdf:type owl:Class @@ -143875,55 +204084,84 @@

hasNotificationNumber11hasNotificationNumber110
dcterms:identifier2200747NANDO:2201108
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" - @ja
rdfs:label - "Other congenital defects of neutrophil function" - @en
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/http://nanbyodata.jp/ontology/NANDO_1200797
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3172
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200491
+ skos:altLabel + "Methylmalonic acidaemia CblD type" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010185
skos:prefLabel - "35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200748 +
http://nanbyodata.jp/ontology/NANDO_2201109 (rdf:type owl:Class @@ -143931,69 +204169,72 @@

hasNotificationNumber11
- dcterms:description - "ๆœซๆขข่ก€ๅฅฝไธญ็ƒ็ตถๅฏพๆ•ฐใŒ500/ฮผLไปฅไธ‹ใŒ2๏ฝž3ใ‹ๆœˆๆŒ็ถšใ—ใ€่‡จๅบŠ็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€ๅคšใใฏไนณๅ…ๆœŸๅพŒๅŠใ‹ใ‚‰ๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆธ…ไธญใฎๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฏ้™ฝๆ€งใงใ‚ใ‚‹ใŒใ€ๆคœๆŸปๆณ•ใฎๆ„Ÿๅบฆใซใ‚ˆใฃใฆใฏ้™ฐๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็—‡ไพ‹ใงใ€ๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฎ่‡ช็„ถๆถˆๅคฑใซไผดใ„ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใฏ่ปฝๅฟซใ™ใ‚‹่‰ฏๅฅฝใช่‡จๅบŠ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚" - @jahasNotificationNumber110
dcterms:identifier2200748NANDO:2201109
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "autoimmune neutropenia" + "Methylcobalamin deficiency cblE type " @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ„ใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblE" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2340
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200747http://nanbyodata.jp/ontology/NANDO_2200491
- skos:altLabel - "AIN " - @en + skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009354
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblE" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200749 +
http://nanbyodata.jp/ontology/NANDO_2201110 (rdf:type owl:Class @@ -144001,79 +204242,79 @@

hasNotificationNumber11
- dcterms:description - "C16ORF57ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅคšๅฝข็šฎ่†š่Ž็ธฎใ€็ˆช่‚ฅๅŽš็—‡ใ€ๆŽŒ่น ่ง’ๅŒ–็—‡ใ€ไฝŽ่บซ้•ทใ€้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ—ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎๅˆไฝตใ‚‚ใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" - @jahasNotificationNumber110
dcterms:identifier2200749NANDO:2201110
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "Clericuzio-type poikiloderma with neutropenia syndrome" + "Methylmalonic acidemia and homocystinuria cblF type" @en
rdfs:label - "ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡" + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใต" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblF" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4213http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3170
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/https://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200747http://nanbyodata.jp/ontology/NANDO_2200491
skos:altLabel - "PN" + "Methylmalonic acidaemia and homocystinuria cblF type" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011405http://purl.obolibrary.org/obo/MONDO_0010183
skos:prefLabel - "ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblF" @ja
- - + - - - - - - + + - + - + + "Methylcobalamin deficiency cblG type " + @en + "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ˜ใƒผ" + @ja-Hira + + + + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200750 +
http://nanbyodata.jp/ontology/NANDO_2201111 (rdf:type owl:Class @@ -144081,72 +204322,77 @@

hasNotificationNumber11
- dcterms:description - "COH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€็ถฒ่†œ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" - @jahasNotificationNumber110
dcterms:identifier2200750NANDO:2201111
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label - "Cohen็—‡ๅ€™็พค" - @ja
rdfs:label - "cohen syndrome" - @en
+ rdfs:label + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblG" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1975http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2594
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/https://www.shouman.jp/disease/details/08_02_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200747http://nanbyodata.jp/ontology/NANDO_2200491
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008999http://purl.obolibrary.org/obo/MONDO_0009609
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021915
skos:prefLabel - "Cohen็—‡ๅ€™็พค" + "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblG" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200751 +
http://nanbyodata.jp/ontology/NANDO_2201112 (rdf:type owl:Class @@ -144154,62 +204400,69 @@

hasNotificationNumber11
- dcterms:description - "Tafazzin๏ผˆTAZ๏ผ‰ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅฟƒ็ญ‹็—‡ใ€ๆˆ้•ท้…ๆปžใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚" - @jahasNotificationNumber107
dcterms:identifier2200751NANDO:2201112
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_024_01.pdf
rdfs:label - "Bart syndrome" + "Presymptomatic propionic acidemia" @en
rdfs:label - "Barth็—‡ๅ€™็พค" + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/https://www.shouman.jp/disease/details/08_02_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200747http://nanbyodata.jp/ontology/NANDO_2200492
+ skos:altLabel + "Presymptomatic propionic acidaemia" + @en
skos:prefLabel - "Barth็—‡ๅ€™็พค" + "็™บ็—‡ๅ‰ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200752 +
http://nanbyodata.jp/ontology/NANDO_2201113 (rdf:type owl:Class @@ -144217,135 +204470,149 @@

hasNotificationNumber11
- dcterms:description - "ใ‚จใƒณใƒ‰ใ‚ฝใƒผใƒ ใ‚ขใƒ€ใƒ—ใ‚ฟใƒผ่›‹็™ฝใงใ‚ใ‚‹p14ใฎๆฌ ๆใซใ‚ˆใ‚Š้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€CD8T็ดฐ่ƒžใฎ็ดฐ่ƒž้šœๅฎณๆ€งไฝŽไธ‹ใ€้™ๅฑ€ๆ€งใฎ็™ฝ็šฎ็—‡ใ€ๆˆ้•ท้šœๅฎณใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใ‚’ใจใ‚‹ใ€‚" - @jahasNotificationNumber107
dcterms:identifier2200752NANDO:2201113
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_024_01.pdf
rdfs:label - "P14 deficiency" + "Acute-onset propionic acidemia" @en
rdfs:label - "P14ๆฌ ๆ็—‡" + "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4415
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_02_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200747http://nanbyodata.jp/ontology/NANDO_2200492
+ skos:altLabel + "Acute-onset propionic acidaemia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011628
skos:prefLabel - "P14ๆฌ ๆ็—‡" + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
- - + - - - - - - - + ) + + + + + - + - + + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200753 +
http://nanbyodata.jp/ontology/NANDO_2201114 (rdf:type owl:Class - ) - -
hasNotificationNumber11
- dcterms:description - "Wiskot-Aldrich็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใงใ‚ใ‚‹WASใฎๆ’ๅธธๆดปๆ€งๅŒ–ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใจใจใ‚‚ใซๅ˜็ƒๆธ›ๅฐ‘ใ‚„้ชจ้ซ„็•ฐๅฝขๆˆใ‚’ไผดใ†ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚" - @ja
hasNotificationNumber107
dcterms:identifier2200753NANDO:2201114
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_024_01.pdf
rdfs:label - "X linked severe congenital neutropenia" + "Propionic acidemia, chronic progressive form" @en
rdfs:label - "X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3284 + rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/https://www.shouman.jp/disease/details/08_02_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200747http://nanbyodata.jp/ontology/NANDO_2200492
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010294 + skos:altLabel + "Propionic acidaemia, chronic progressive form" + @en
skos:prefLabel - "X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡" + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + "ใ•ใ„ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200754 +
http://nanbyodata.jp/ontology/NANDO_2201115 (rdf:type owl:Class @@ -144353,72 +204620,69 @@

hasNotificationNumber11
- dcterms:description - "ใ‚ฐใƒซใ‚ณใƒผใ‚น6ใƒชใƒณ้…ธใƒˆใƒฉใƒณใ‚นใ‚ซใƒญใƒฉใƒผใ‚ผ๏ผˆG6PT1๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ไปฃ่ฌๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€ไฝŽ่ก€็ณ–ใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’ๆฅใ™ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚" - @jahasNotificationNumber107
dcterms:identifier2200754NANDO:2201115
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_024_01.pdf
rdfs:label - "Glycogen storage disease type 1B" + "Propionic acidemia, intermittent late onset form" @en
rdfs:label - "็ณ–ๅŽŸ็—…1bๅž‹" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2275 + rdfs:label + "ๆœ€่ปฝ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_037/https://www.shouman.jp/disease/details/08_02_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200747http://nanbyodata.jp/ontology/NANDO_2200492
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009288 + skos:altLabel + "Propionic acidaemia, intermittent late onset form" + @en
skos:prefLabel - "็ณ–ๅŽŸ็—…1bๅž‹" + "ๆœ€่ปฝ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200755 +
http://nanbyodata.jp/ontology/NANDO_2201116 (rdf:type owl:Class @@ -144426,84 +204690,69 @@

hasNotificationNumber13
- dcterms:description - "็™ฝ่ก€็ƒใซใŠใ‘ใ‚‹ๆŽฅ็€ๅˆ†ๅญใงใ‚ใ‚‹๏ข2ใ‚คใƒณใƒ†ใ‚ฐใƒชใƒณใ‚„ใ‚ปใƒฌใ‚ฏใƒใƒณใƒชใ‚ฌใƒณใƒ‰ใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใ€‚ๆŽฅ็€ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๆ„ŸๆŸ“้ƒจไฝใธใฎ็™ฝ่ก€็ƒๆตธๆฝคใŒไธ่ƒฝใจใชใ‚Šใ€ๆ„ŸๆŸ“็—‡ใŒ้ทๅปถใ™ใ‚‹ใ€‚็ดฐ่Œใ€็œŸ่Œใซใ‚ˆใ‚‹้›ฃๆฒปๆ€ง็šฎ่†š็‚Žใ€ไธญ่€ณ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏ่ปฝๅบฆใ‹ใ‚‰ไธญ็จ‹ๅบฆใงใ‚ใ‚ŒใฐๆŠ—่Œๅ‰ค็ญ‰ใฎๅฏพๅ‡ฆ็™‚ๆณ•ใ‚’่กŒใ†ใŒใ€้‡็—‡ใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚" - @jahasNotificationNumber96
dcterms:identifier2200755NANDO:2201116
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_026_01.pdf
rdfs:label - "leukocyte adhesion deficiency" + "Presymptomatic isovaleric acidemia" @en
rdfs:label - "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=261 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_038/https://www.shouman.jp/disease/details/08_02_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200494
skos:altLabel - "LAD" + "Presymptomatic isovaleric acidaemia" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007293
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017570
skos:prefLabel - "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡" + "็™บ็—‡ๅ‰ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200756 +
http://nanbyodata.jp/ontology/NANDO_2201117 (rdf:type owl:Class @@ -144511,91 +204760,79 @@

hasNotificationNumber12
- dcterms:description - "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค๏ผˆShwachman-Diamond syndrome: SDS๏ผ‰ใฏ่†ตๅค–ๅˆ†ๆณŒใฎ็•ฐๅธธใจ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจๆ ผ็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒชใƒœใ‚ฝใƒผใƒ ็”Ÿๆˆใซ้–ขไธŽใ™ใ‚‹SBDS่›‹็™ฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใฏ่†ต้…ต็ด ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใฎ่ฃœๅ……ใ€่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใซๅฏพใ—ใฆใฏ่ผธ่ก€ใ€้‡็—‡ไพ‹ใงใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber96
dcterms:identifier2200756NANDO:2201117
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_026_01.pdf
rdfs:label - "Shwachman-Diamond syndrome" + "Acute-onset isovaleric acidemia" @en
rdfs:label - "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" + "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2817http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2466
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_039/https://www.shouman.jp/disease/details/08_02_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200494
skos:altLabel - "SDS" + "Acute-onset isovaleric acidaemia" @en
- skos:altLabel - "Shwachman-Diamond็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009833
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044204http://purl.obolibrary.org/obo/MONDO_0009475
skos:prefLabel - "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค" + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200757 +
http://nanbyodata.jp/ontology/NANDO_2201118 (rdf:type owl:Class @@ -144603,89 +204840,79 @@

hasNotificationNumber14
- dcterms:description - "้ฃŸ็ดฐ่ƒžใฎๆฎบ่Œ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็ดฐ่Œใ‚„็œŸ่Œใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚ใพใŸใ€ๅ…็–ซๅฟœ็ญ”ใฎๅˆถๅพก็•ฐๅธธใ‚’่ชใ‚ใ€้Žๅ‰ฐใช็‚Ž็—‡ๅๅฟœใŒ้ทๅปถใ—่‚‰่Šฝ่…ซๅฝขๆˆใ‚„่‚‰่Šฝ่…ซๆ€ง่…ธ็‚Žใ‚’ใใŸใ™ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰คๆŠ•ไธŽใชใฉใŒไธปไฝ“ใจใชใ‚‹ใŒใ€้‡ๅบฆใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚" - @jahasNotificationNumber96
dcterms:identifier2200757NANDO:2201118
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_026_01.pdf
rdfs:label - "Chronic granulomatous disease" + "Isovaleric acidemia, chronic progressive form" @en
rdfs:label - "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3424 + rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00098http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2466
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_040/https://www.shouman.jp/disease/details/08_02_026/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200494
skos:altLabel - "CGD" + "Isovaleric acidaemia, chronic progressive form" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010600
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018305http://purl.obolibrary.org/obo/MONDO_0009475
skos:prefLabel - "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸ3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200758 +
http://nanbyodata.jp/ontology/NANDO_2201119 (rdf:type owl:Class @@ -144693,77 +204920,86 @@

hasNotificationNumber15
- dcterms:description - "ๅฅฝไธญ็ƒใฎใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆMPO๏ผ‰ใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏ่ปฝๅบฆใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๅ†…ๆฎบ่Œไฝœ็”จใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ—ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber103
dcterms:identifier2200758NANDO:2201119
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_029_01.pdf
rdfs:label - "myeloperoxidase deficiency" + "Presymptomatic 3-hydroxy-3-methylglutaric acidemia" @en
rdfs:label - "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2680 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02025http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2509
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_041/https://www.shouman.jp/disease/details/08_02_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200497
+ skos:altLabel + "HMG-CoA lyase deficiency" + @en
+ skos:altLabel + "Presymptomatic 3-hydroxy-3-methylglutaric acidaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009694http://purl.obolibrary.org/obo/MONDO_0009520
skos:prefLabel - "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - -
http://nanbyodata.jp/ontology/nando#2200759 +
http://nanbyodata.jp/ontology/NANDO_2201120 (rdf:type owl:Class @@ -144771,74 +205007,69 @@

hasNotificationNumber16
- dcterms:description - "BCGใ‚„้žๅฎšๅž‹ๆŠ—้…ธ่Œใชใฉๅผฑๆฏ’ๆŠ—้…ธ่Œใซๅฏพใ—ใฆ้ธๆŠž็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ—ใ€็ตๆ ธ่Œใ‚„ใ‚ตใƒซใƒขใƒใƒฉใชใฉใฎ็ดฐ่ƒžๅ†…ๅฏ„็”Ÿ่Œใซๅฏพใ—ใฆ้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’ใใŸใ™ใ€‚ใ“ใฎใŸใ‚ใ€ไป–ใฎ็ดฐ่Œใ‚„็œŸ่Œใ€ใ‚ฆใ‚คใƒซใ‚นใชใฉใซๅฏพใ—ใฆใฏๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ•ใชใ„ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰ค๏ผˆๆŠ—็ตๆ ธ็ด„๏ผ‰็ญ‰ใฎๅ†…็ง‘็š„ๆฒป็™‚ใŒไธปไฝ“ใจใชใ‚‹ใ€‚" - @jahasNotificationNumber103
dcterms:identifier2200759NANDO:2201120
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_029_01.pdf
rdfs:label - "Mendelian susceptibility to mycobacterial disease" + "Acute-onset 3-hydroxy-3-methylglutaric acidemia" @en
rdfs:label - "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" + "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸ3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_042/https://www.shouman.jp/disease/details/08_02_029/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200497
skos:altLabel - "MSMD" + "Acute-onset 3-hydroxy-3-methylglutaric acidaemia" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019146
skos:prefLabel - "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡" + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡" @ja
- - + - - - - - - + + - + - + + "presymptomatic multiple carboxylase deficiency" + @en + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200760 +
http://nanbyodata.jp/ontology/NANDO_2201121 (rdf:type owl:Class @@ -144846,62 +205077,62 @@

hasNotificationNumber17
- dcterms:description - "CGDใ€MPOๆฌ ๆ็—‡ใ€MSMDไปฅๅค–ใซใ‚‚็™ฝ่ก€็ƒใฎๆฉŸ่ƒฝ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber106
dcterms:identifier2200760NANDO:2201121
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_05_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_032_01.pdf
rdfs:label - "38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ" - @ja
rdfs:label - "Other congenital defects of phagocyte function" - @en
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_043/https://www.shouman.jp/disease/details/08_02_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100207http://nanbyodata.jp/ontology/NANDO_2200500
skos:prefLabel - "38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ" + "็™บ็—‡ๅ‰ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200761 +
http://nanbyodata.jp/ontology/NANDO_2201122 (rdf:type owl:Class @@ -144909,84 +205140,62 @@

hasNotificationNumber24
- dcterms:description - "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ๏ผˆๆญฏ็‰™ๆฌ ๆ๏ผ่Œๅ‡บไธๅ…จใƒปๅ††้Œ็Šถๆญฏใ€็™บๆฑ—ไฝŽไธ‹ใ‚„็„กๆฑ—็—‡ใ€็ฒ—ใช้ ญ้ซชใ‚„็œ‰ๆฏ›๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใ‚„ๅคง็†็Ÿณ้ชจ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Š่‡จๅบŠๅƒใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚NF-ฮบBใ‚ทใ‚ฐใƒŠใƒซไผ้”้šœๅฎณใŒๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉใŒNEMO้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใŒใ€IฮบBฮฑ้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ช็„ถๅ…็–ซใ€็ดฐ่ƒžๆ€งๅ…็–ซใ€ๆถฒๆ€งๅ…็–ซใฎใ„ใšใ‚Œใซใ‚‚็จฎใ€…ใฎ็จ‹ๅบฆใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ใ„ใ‚ใ„ใ‚ใช็—…ๅŽŸไฝ“ใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ใƒ˜ใƒซใƒšใ‚นๅฑžใ‚ฆใ‚คใƒซใ‚นใ‚„ๆŠ—้…ธ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ‹ใƒฅใƒผใƒขใ‚ทใ‚นใƒ†ใ‚ฃใ‚น่‚บ็‚Ž็ญ‰ใงใฏ้‡็—‡ๅŒ–ใ—ใ‚„ใ™ใใ€ๆญปไบกใ™ใ‚‹ๅ ดๅˆใ‚‚ๅฐ‘ใชใใชใ„ใ€‚็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใฎๅˆไฝต้ ปๅบฆใŒ้ซ˜ใใ€้›ฃๆฒปๆ€งใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber106
dcterms:identifier2200761NANDO:2201122
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_032_01.pdf
rdfs:label - "Anhidrotic ectodermal dysplasia with immunodeficiency" + "acute-onset multiple carboxylase deficiency" @en
rdfs:label - "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3283 + rdfs:label + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_044/https://www.shouman.jp/disease/details/08_02_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100208
- skos:altLabel - "EDA-ID" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010293
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020740http://nanbyodata.jp/ontology/NANDO_2200500
skos:prefLabel - "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡" + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200762 +
http://nanbyodata.jp/ontology/NANDO_2201123 (rdf:type owl:Class @@ -144994,72 +205203,62 @@

hasNotificationNumber21
- dcterms:description - "็ฒๅพ—ๅ…็–ซใŒๆœช็†Ÿใงใ‚ใ‚‹ไนณๅนผๅ…ๆœŸใซใ€่‚บ็‚Ž็ƒ่Œใชใฉใซใ‚ˆใ‚‹invasive bacterial infection๏ผˆไพต่ฅฒๆ€งๆ„ŸๆŸ“็—‡๏ผ‰ใ‚’่ตทใ“ใ—ใ‚„ใ™ใใ€ๆญปไบก็Ž‡ใŒ้ซ˜ใ„ใ€‚ไนณๅนผๅ…ๆœŸใฎๆ„ŸๆŸ“็—‡ๅฏพ็ญ–ใŒๆฅตใ‚ใฆ้‡่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber106
dcterms:identifier2200762NANDO:2201123
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_032_01.pdf
rdfs:label - "IRAK4 deficiency" + "Chronic progressive multiple carboxylase deficiency" @en
rdfs:label - "IRAK4ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4636 + rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_045/https://www.shouman.jp/disease/details/08_02_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100208
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011888http://nanbyodata.jp/ontology/NANDO_2200500
skos:prefLabel - "IRAK4ๆฌ ๆ็—‡" + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200763 +
http://nanbyodata.jp/ontology/NANDO_2201124 (rdf:type owl:Class @@ -145067,72 +205266,69 @@

hasNotificationNumber23
- dcterms:description - "IRAK4ๆฌ ๆ็—‡ใฎ้ …ใ‚’ๅ‚็…งใ€‚่‡จๅบŠๅƒใงใฏIRAK4ๆฌ ๆ็—‡ใจๅŒบๅˆฅใงใใชใ„ใ€‚" - @jahasNotificationNumber98
dcterms:identifier2200763NANDO:2201124
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_033_01.pdf
rdfs:label - "MyD88 deficiency" + "Presymptomatic glutaric acidemia type 1" @en
rdfs:label - "MyD88ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7095 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_046/https://www.shouman.jp/disease/details/08_02_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100208http://nanbyodata.jp/ontology/NANDO_2200501
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012839 + skos:altLabel + "Presymptomatic glutaric acidaemia type 1" + @en
skos:prefLabel - "MyD88ๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" @ja
- - + - - - - - - + + - + - + + "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira - - + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200764 +
http://nanbyodata.jp/ontology/NANDO_2201125 (rdf:type owl:Class @@ -145140,89 +205336,79 @@

hasNotificationNumber22
- dcterms:description - "็šฎ่†šใ€็ˆชใ€็ฒ˜่†œใชใฉใฎๅ†็™บๆ€งใ€้›ฃๆฒปๆ€งใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚้€šๅธธใฏๆ…ขๆ€งใซๆŒ็ถšใ™ใ‚‹่กจๅœจๆ€งใฎ็œŸ่Œๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚้บไผๆ€งใฎใ‚‚ใฎใซใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber98
dcterms:identifier2200764NANDO:2201125
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_033_01.pdf
rdfs:label - "chronic mucocutaneous candidiasis" + "Acute-onset glutaric acidemia type 1" @en
rdfs:label - "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1083 + rdfs:label + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01109http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2268
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_047/https://www.shouman.jp/disease/details/08_02_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100208http://nanbyodata.jp/ontology/NANDO_2200501
skos:altLabel - "CMC" + "Acute-onset glutaric acidaemia type 1" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008094
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015279http://purl.obolibrary.org/obo/MONDO_0009281
skos:prefLabel - "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡" + "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" @ja
- - + - - - - - - + + - + - + + "Glutaric acidemia type 1, chronic progressive form" + @en + "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200765 +
http://nanbyodata.jp/ontology/NANDO_2201126 (rdf:type owl:Class @@ -145230,62 +205416,69 @@

hasNotificationNumber25
- dcterms:description - "ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber98
dcterms:identifier2200765NANDO:2201126
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_02_033_01.pdf
rdfs:label - "44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ" - @ja
rdfs:label - "Other defects in innate immunity" - @en
+ rdfs:label + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_02_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100208http://nanbyodata.jp/ontology/NANDO_2200501
+ skos:altLabel + "Glutaric acidaemia type 1, chronic progressive form" + @en
skos:prefLabel - "44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ" + "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200766 +
http://nanbyodata.jp/ontology/NANDO_2201127 (rdf:type owl:Class @@ -145293,62 +205486,62 @@

hasNotificationNumber25
- dcterms:description - "ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber41
dcterms:identifier2200766NANDO:2201127
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_041_01.pdf
rdfs:label - "HOIL-1 deficiency" + "Presymptomatic carnitine palmitoyltransferase I deficiency" @en
rdfs:label - "HOIL1ๆฌ ๆ็—‡" + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765http://nanbyodata.jp/ontology/NANDO_2200509
skos:prefLabel - "HOIL1ๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200767 +
http://nanbyodata.jp/ontology/NANDO_2201128 (rdf:type owl:Class @@ -145356,110 +205549,62 @@

hasNotificationNumber25
- dcterms:description - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚CXC chemokine receptor 4๏ผˆCRCR4๏ผ‰้บไผๅญใฎgain-of-function้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใ€‚WHIMใฏใ€ใ“ใฎ็–พๆ‚ฃใฎ่‡จๅบŠๅƒใฎ็‰นๅพดใงใ‚ใ‚‹Wartsใ€Hypogammaglobulinemiaใ€recurrent bacterial Infectionsใ€Myelokathexisใฎ็•ฅใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸใ‹ใ‚‰่‚บ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ€ไธญ่€ณ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€ๆญฏๅ‘จ็‚Žใชใฉใฎ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่ตท็‚Ž่Œใฏไธ€่ˆฌ็ดฐ่Œใงใ‚ใ‚Šใ€ๆŠ—็”Ÿๅ‰คใซๆฏ”่ผƒ็š„ใ‚ˆใๅๅฟœใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚10ไปฃใซใชใ‚‹ใจใ€ใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹็–ฃ่ด…ใŒๅคš็™บใ™ใ‚‹ใ‚ˆใ†ใซใชใ‚‹ใŒใ€10ไปฃไปฅๅ‰ใซใŠใ“ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€็–ฃ่ด…ใฎใชใ„ๆ‚ฃ่€…ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไป–ใฎใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹ๆ˜“ๆ„ŸๆŸ“ๆ€งใฏใชใ„ใ€‚" - @jahasNotificationNumber41
dcterms:identifier2200767NANDO:2201128
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_041_01.pdf
rdfs:label - "WHIM syndrome" + "Neonatal-onset carnitine palmitoyltransferase I deficiency" @en
rdfs:label - "WHIM็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1643 + rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765
- skos:altLabel - " and myelokathexis" - @en
- skos:altLabel - "Warts" - @en
- skos:altLabel - "ย hypogammaglobulinemia" - @en
- skos:altLabel - "ย infections" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008674
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015977
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016463http://nanbyodata.jp/ontology/NANDO_2200509
skos:prefLabel - "WHIM็—‡ๅ€™็พค" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200768 +
http://nanbyodata.jp/ontology/NANDO_2201129 (rdf:type owl:Class @@ -145467,72 +205612,62 @@

hasNotificationNumber25
- dcterms:description - "EVER1ใ‚ใ‚‹ใ„ใฏEVER2ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚ใ‚‹ใ„ใฏX้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ ดๅˆใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚EVER้บไผๅญใฏใ€่†œ่ฒซ้€š่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ไบœ้‰›ใฎhomeostasisใซ้‡่ฆใชๅƒใใ‚’ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€EVER่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใฃใฆใ‚ฆใ‚คใƒซใ‚น้บไผๅญใ€็‰นใซpro-oncogeneใงใ‚ใ‚‹E6ใ‚„E7ใฎ็™บ็พใŒไบข้€ฒใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใฏ้›ฃๆฒปๆ€งใƒปๆ’ญ็จฎๆ€งใงใ‚ใ‚‹ใ€‚้€šๅธธไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็šฎ่†š็™Œใ‚’้ซ˜็Ž‡ใซๅˆไฝตใ™ใ‚‹ใ€‚็šฎ็–น็—…ๅค‰ใฏๆ‰‹่ƒŒใ‚„้กใ‹ใ‚‰ใฏใ˜ใพใ‚Šใ€ๆฌก็ฌฌใซๅ››่‚ขใ€้ฆ–ใ€่บฏๅนนใซ้€ฒๅฑ•ใ—ใฆใ„ใใ€‚่บฏๅนนใ€้ฆ–ใ€ๅ››่‚ขใซใŠใ“ใ‚‹ใ‚‚ใฎใฏใ€ๅนณๅฆใ€็–ฃ่ด…็Šถใ€ไฝŽ่‰ฒ็ด ๆ€งใ‚ใ‚‹ใ„ใฏ่‰ฒ็ด ๆ€งไธ˜็–นใงใ‚ใ‚Šใ€่žๅˆๅ‚พๅ‘ใŒใฟใ‚‰ใ‚Œใ€ๅขƒ็•ŒใŒไธ่ฆๅ‰‡ใชๆ–‘็Šถ่ฝๅฑ‘ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๅ…‰ใฎๆšด้œฒใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใซใฏใ€็–ฃ่ด…็Šถใ‚ใ‚‹ใ„ใฏ่„‚ๆผๆ€ง่ง’ๅŒ–็Šถใฎ็—…ๅค‰ใจใชใ‚Šใ‚„ใ™ใๆ‚ชๆ€งๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚็šฎ็–นใฏฮฒใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚น๏ผˆHPV๏ผ‰ใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ€‚19็จฎ้กž็•ฐๅธธใฎใ‚ฟใ‚คใƒ—ใฎฮฒHPVใŒๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€้€šๅธธใ€่ค‡ๆ•ฐใฎ็จฎ้กžใฎใ‚ฆใ‚คใƒซใ‚นใŒๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ใ€‚HPV-5ใ€3ใ€10ใฎ้ ปๅบฆใŒ้ซ˜ใใ€HPV-5ใฏใ€ๆ‚ชๆ€งๅŒ–ใจ้–ข้€ฃใŒ้ซ˜ใ„ใ€‚ๆ‚ฃ่€…ใฎๆœซๆขข่ก€ๅ…็–ซ่ƒฝๆคœๆŸปใฏๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€T็ดฐ่ƒžๆ•ฐใฎๆธ›ๅฐ‘ใ€mitogenใ‚„HPVใซๅฏพใ™ใ‚‹ไฝŽๅๅฟœๆ€งใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber41
dcterms:identifier2200768NANDO:2201129
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_041_01.pdf
rdfs:label - "Epidermodysplasia verruciformis" + "Infantile-onset carnitine palmitoyl transferase I deficiency" @en
rdfs:label - "็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2162 + rdfs:label + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009176http://nanbyodata.jp/ontology/NANDO_2200509
skos:prefLabel - "็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡" + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200769 +
http://nanbyodata.jp/ontology/NANDO_2201130 (rdf:type owl:Class @@ -145540,111 +205675,62 @@

hasNotificationNumber25
- dcterms:description - "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚" - @jahasNotificationNumber41
dcterms:identifier2200769NANDO:2201130
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_041_01.pdf
rdfs:label - "้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" - @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765
- - - - - - - - - - - - - - - - - - + "Late-onset carnitine palmitoyltransferase I deficiency" + @en + "ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - + - +
http://nanbyodata.jp/ontology/nando#2200770 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber25
- dcterms:description - "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚" - @ja
- dcterms:identifier2200770
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label - "STAT2 deficiency" - @en
rdfs:label - "STAT2ๆฌ ๆ็—‡" + "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_041/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200769http://nanbyodata.jp/ontology/NANDO_2200509
skos:prefLabel - "STAT2ๆฌ ๆ็—‡" + "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200771 +
http://nanbyodata.jp/ontology/NANDO_2201131 (rdf:type owl:Class @@ -145652,62 +205738,62 @@

hasNotificationNumber25
- dcterms:description - "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MCM4้บไผๅญ็•ฐๅธธใฏใ€ACTH่€ๆ€ง็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ๆ็—‡ใ€NK็ดฐ่ƒžๆฌ ๆใ€ๆˆ้•ท้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆŸ“่‰ฒไฝ“ๆ–ญ่ฃ‚ใŒ่ตทใ“ใ‚Šใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰ๅœฐๆ–นใฎ1้ƒจใฎ้›†ๅ›ฃใซๅคšใ„ใจใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚" - @jahasNotificationNumber42
dcterms:identifier2200771NANDO:2201131
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_042_01.pdf
rdfs:label - "MCM4 mutation" + "presymptomatic carnitine palmitoyltransferase II deficiency" @en
rdfs:label - "MCM4้บไผๅญ็•ฐๅธธ็—‡" + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200769http://nanbyodata.jp/ontology/NANDO_2200510
skos:prefLabel - "MCM4้บไผๅญ็•ฐๅธธ็—‡" + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200772 +
http://nanbyodata.jp/ontology/NANDO_2201132 (rdf:type owl:Class @@ -145715,67 +205801,72 @@

hasNotificationNumber25
- dcterms:description - "้บไผ็š„ใช่ฆๅ› ใซใ‚ˆใฃใฆๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’่ตทใ“ใ™ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’็นฐใ‚Š่ฟ”ใ—ใ‚„ใ™ใ„ใ€‚TLR3ใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้–ข้€ฃใ™ใ‚‹ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆใ€TLR3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€UNC93B1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TRAF3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใ€TRIF๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TBK1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber42
dcterms:identifier2200772NANDO:2201132
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_042_01.pdf
rdfs:label - "Herpes simplex encephalitis" + "neonatal-onset carnitine palmitoyltransferase II deficiency" @en
rdfs:label - "ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6411
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765http://nanbyodata.jp/ontology/NANDO_2200510
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012521http://purl.obolibrary.org/obo/MONDO_0012136
skos:prefLabel - "ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200773 +
http://nanbyodata.jp/ontology/NANDO_2201133 (rdf:type owl:Class @@ -145783,72 +205874,74 @@

hasNotificationNumber25
- dcterms:description - "ๅฃ่…”ๅ†…ใ‚ซใƒณใ‚ธใƒ€็—‡ใ‚„ๅค–้™ฐ้ƒจใ‚ซใƒณใ‚ธใƒ€็—‡ใชใฉใฎๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ใฎ่‡จๅบŠๅƒใจใ€ๆทฑ้ƒจ่‡“ๅ™จใฎใ‚ซใƒณใ‚ธใƒ€็—‡ใฎไธก่€…ใŒ่ตทใ“ใ‚‹็‚นใŒ็‰นๅพด็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็ณธ็Šถ่Œ็—‡ใ‚„ไฝ“้ƒจ็™ฝ็™ฌใ‚‚่ตทใ“ใ‚Šใ‚„ใ™ใใ€็ดซ่‰ฒ็™ฝ็™ฌ่Œใ‚„็ด…่‰ฒ็™ฝ็™ฌ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ•ใ‚งใ‚ชใƒ•ใ‚ฃใƒ›็œŸ่Œ็—‡็ญ‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€ไธญๆžข็ฅž็ตŒ็ณปใฎใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“็—‡ใ‚’ใŠใ“ใ—ใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚CARD9ใฏใ€่‡ช็„ถๅ…็–ซใ‚’ๆ‹…ใ†็ดฐ่ƒžใซใŠใ„ใฆใ€Dectin-1ใ‚„Dectin-2ใ€Mincle็ญ‰ใฎC-type lectin receptorใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ๅฅฝไธญ็ƒใฏCandidaใซๅฏพใ™ใ‚‹ๆฎบ่Œ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžๅ†…ใงใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€Th17็ดฐ่ƒžใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber42
dcterms:identifier2200773NANDO:2201133
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_042_01.pdf
rdfs:label - "CARD9 deficiency" + "Infantile-onset carnitine palmitoyl transferase II deficiency" @en
rdfs:label - "CARD9ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1877 + rdfs:label + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765http://nanbyodata.jp/ontology/NANDO_2200510
+ skos:altLabel + "CPT II deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008905http://purl.obolibrary.org/obo/MONDO_0015515
skos:prefLabel - "CARD9ๆฌ ๆ็—‡" + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200774 +
http://nanbyodata.jp/ontology/NANDO_2201134 (rdf:type owl:Class @@ -145856,67 +205949,67 @@

hasNotificationNumber25
- dcterms:description - "ๆตทๅค–ใงๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžใซๅฏพใ™ใ‚‹่‡ช็„ถๅ…็–ซใจใ—ใฆ่ก€ๆธ…ไธญใฎapolipoprotein L-1๏ผˆAPOL1๏ผ‰ใŒ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚้€šๅธธใƒ’ใƒˆใซใฏๆ„ŸๆŸ“ใ—ใชใ„T. evansiใฎๆ„ŸๆŸ“็—‡ใ‚’่ตทใ“ใ—ใŸๆ‚ฃ่€…ใงใ€APOL1ใŒๆฌ ๆใ—ใฆใ„ใŸไบ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber42
dcterms:identifier2200774NANDO:2201134
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_042_01.pdf
rdfs:label - "Trypanosomiasis" + "late-onset carnitine palmitoyltransferase II deficiency" @en
rdfs:label - "ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡" + "ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_042/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765http://nanbyodata.jp/ontology/NANDO_2200510
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000940http://purl.obolibrary.org/obo/MONDO_0015515
skos:prefLabel - "ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡" + "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200775 +
http://nanbyodata.jp/ontology/NANDO_2201135 (rdf:type owl:Class @@ -145924,62 +206017,62 @@

hasNotificationNumber25
- dcterms:description - "ๅฟƒ็–พๆ‚ฃใชใฉใ€ไป–ใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใชใ„ใ€ๅ…ˆๅคฉ็š„ใช็„ก่„พ็—‡ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆRPSAใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฒฌไปป้บไผๅญใŒใพใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅคšใ„ใ€‚่Žข่†œๅคš็ณ–ไฝ“ใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่Œใ€็‰นใซ่‚บ็‚Ž็ƒ่Œใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถ่Œ็ญ‰ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€็‰นใซๆ•—่ก€็—‡ใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚ๆŠ—็”Ÿๅ‰คใฎไบˆ้˜ฒๅ†…ๆœใ€่‚บ็‚Ž็ƒ่Œใƒฏใ‚ฏใƒใƒณใชใฉใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใฎไบˆ้˜ฒใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200775NANDO:2201135
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_06_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_043_01.pdf
rdfs:label - "Isolatedย congenital asplenia" + "presymptomatic carnitine-acylcarnitine translocase deficiency" @en
rdfs:label - "ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡" + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_06_048/https://www.shouman.jp/disease/details/08_03_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200765http://nanbyodata.jp/ontology/NANDO_2200511
skos:prefLabel - "ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡" + "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200776 +
http://nanbyodata.jp/ontology/NANDO_2201136 (rdf:type owl:Class @@ -145987,62 +206080,69 @@

hasNotificationNumber27
- dcterms:description - "่ฃœไฝ“ใฎๅ„ๆˆๅˆ†ใฎใ„ใšใ‚Œใ‹ใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๆฌ ๆใ™ใ‚‹่ฃœไฝ“ใฎ็จฎ้กžใซใ‚ˆใฃใฆใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซใ€้บไผๆ€ง่ก€็ฎกๆตฎ่…ซใ€็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใŠใ‚ˆใณ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏไป–ใฎใ‚ซใƒ†ใ‚ดใƒชใƒผใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใฎใงใ€ใ“ใ“ใงใฏๅ‰ฒๆ„›ใ™ใ‚‹ใ€‚" - @jahasNotificationNumber40
dcterms:identifier2200776NANDO:2201136
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_043_01.pdf
rdfs:label - "inherited deficiency of complement system" + "neonatal-onset carnitine-acylcarnitine translocase deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100209http://nanbyodata.jp/ontology/NANDO_2200511
+ skos:altLabel + "neonatal-onset CACT deficiency" + @en
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200777 +
http://nanbyodata.jp/ontology/NANDO_2201137 (rdf:type owl:Class @@ -146050,65 +206150,62 @@

hasNotificationNumber27hasNotificationNumber40
dcterms:identifier2200777NANDO:2201137
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_043_01.pdf
rdfs:label - "C1q deficiency" + "infantile-onset carnitine-acylcarnitine translocase deficiency" @en
rdfs:label - "C1qย ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7663 + rdfs:label + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013343http://nanbyodata.jp/ontology/NANDO_2200511
skos:prefLabel - "C1qย ๆฌ ๆ็—‡" + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200778 +
http://nanbyodata.jp/ontology/NANDO_2201138 (rdf:type owl:Class @@ -146116,55 +206213,62 @@

hasNotificationNumber27hasNotificationNumber40
dcterms:identifier2200778NANDO:2201138
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_043_01.pdf
rdfs:label - "C1r deficiency" + "late-onset carnitine-acylcarnitine translocase deficiency" @en
rdfs:label - "C1rย ๆฌ ๆ็—‡" + "ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_043/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200511
skos:prefLabel - "C1rย ๆฌ ๆ็—‡" + "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200779 +
http://nanbyodata.jp/ontology/NANDO_2201139 (rdf:type owl:Class @@ -146172,60 +206276,79 @@

hasNotificationNumber27hasNotificationNumber43
dcterms:identifier2200779NANDO:2201139
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_044_01.pdf
rdfs:label - "C1s deficiency" + "presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C1sย ๆฌ ๆ็—‡" + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1695
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200512
+ skos:altLabel + "presymptomatic VLCAD deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013419http://purl.obolibrary.org/obo/MONDO_0008723
skos:prefLabel - "C1sย ๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200780 +
http://nanbyodata.jp/ontology/NANDO_2201140 (rdf:type owl:Class @@ -146233,55 +206356,62 @@

hasNotificationNumber27hasNotificationNumber43
dcterms:identifier2200780NANDO:2201140
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_044_01.pdf
rdfs:label - "C4 deficiency" + "neonatal-onset very-long-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C4ย ๆฌ ๆ็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200512
skos:prefLabel - "C4ย ๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200781 +
http://nanbyodata.jp/ontology/NANDO_2201141 (rdf:type owl:Class @@ -146289,65 +206419,62 @@

hasNotificationNumber27hasNotificationNumber43
dcterms:identifier2200781NANDO:2201141
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_044_01.pdf
rdfs:label - "C2 deficiency" + "infant-onset very-long-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C2ย ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1981 + rdfs:label + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009006http://nanbyodata.jp/ontology/NANDO_2200512
skos:prefLabel - "C2ย ๆฌ ๆ็—‡" + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200782 +
http://nanbyodata.jp/ontology/NANDO_2201142 (rdf:type owl:Class @@ -146355,60 +206482,62 @@

hasNotificationNumber27hasNotificationNumber43
dcterms:identifier2200782NANDO:2201142
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_044_01.pdf
rdfs:label - "C3 deficiency" + "late-onset very-long-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C3ย ๆฌ ๆ็—‡" + "ใกใฏใคใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_044/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013417http://nanbyodata.jp/ontology/NANDO_2200512
skos:prefLabel - "C3ย ๆฌ ๆ็—‡" + "้…็™บๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200783 +
http://nanbyodata.jp/ontology/NANDO_2201143 (rdf:type owl:Class @@ -146416,65 +206545,62 @@

hasNotificationNumber27hasNotificationNumber48
dcterms:identifier2200783NANDO:2201143
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_045_01.pdf
rdfs:label - "C5 deficiency" + "presymptomatic medium-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C5ย ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6570 + rdfs:label + "็™บ็—‡ๅ‰ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012295http://nanbyodata.jp/ontology/NANDO_2200513
skos:prefLabel - "C5ย ๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200784 +
http://nanbyodata.jp/ontology/NANDO_2201144 (rdf:type owl:Class @@ -146482,65 +206608,62 @@

hasNotificationNumber27hasNotificationNumber48
dcterms:identifier2200784NANDO:2201144
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_045_01.pdf
rdfs:label - "C6 deficiency" + "neonatal-onset medium-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C6ย ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7144 + rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012908http://nanbyodata.jp/ontology/NANDO_2200513
skos:prefLabel - "C6ย ๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200785 +
http://nanbyodata.jp/ontology/NANDO_2201145 (rdf:type owl:Class @@ -146548,65 +206671,62 @@

hasNotificationNumber27hasNotificationNumber48
dcterms:identifier2200785NANDO:2201145
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_045_01.pdf
rdfs:label - "C7 deficiency" + "infant-onset medium-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C7ย ๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6688 + rdfs:label + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012412http://nanbyodata.jp/ontology/NANDO_2200513
skos:prefLabel - "C7ย ๆฌ ๆ็—‡" + "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200786 +
http://nanbyodata.jp/ontology/NANDO_2201146 (rdf:type owl:Class @@ -146614,55 +206734,62 @@

hasNotificationNumber27hasNotificationNumber48
dcterms:identifier2200786NANDO:2201146
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_045_01.pdf
rdfs:label - "C8 deficiency" + "late-onset medium-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:label - "C8ย ๆฌ ๆ็—‡" + "ใกใฏใคใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_045/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200513
skos:prefLabel - "C8ย ๆฌ ๆ็—‡" + "้…็™บๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200787 +
http://nanbyodata.jp/ontology/NANDO_2201147 (rdf:type owl:Class @@ -146670,60 +206797,79 @@

hasNotificationNumber27hasNotificationNumber44
dcterms:identifier2200787NANDO:2201147
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_047_01.pdf
rdfs:label - "C9 deficiency" + "presymptomatic trifunctional protein deficiency" @en
rdfs:label - "C9ย ๆฌ ๆ็—‡" + "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็™บ็—‡ๅ‰ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6449
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200515
+ skos:altLabel + " TFP deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013445http://purl.obolibrary.org/obo/MONDO_0012172
skos:prefLabel - "C9ย ๆฌ ๆ็—‡" + "็™บ็—‡ๅ‰ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200788 +
http://nanbyodata.jp/ontology/NANDO_2201148 (rdf:type owl:Class @@ -146731,72 +206877,77 @@

hasNotificationNumber27hasNotificationNumber44
dcterms:identifier2200788NANDO:2201148
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_047_01.pdf
rdfs:label - "Factor D deficiency" + "Trifunctional protein deficiency, lethal type" @en
rdfs:label - "Factor Dย ๆฌ ๆ็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7798http://nanbyodata.jp/ontology/NANDO_1200975
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6449
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_03_047/
- skos:altLabel - "Dๅ› ๅญๆฌ ๆ็—‡" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200515
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013487http://purl.obolibrary.org/obo/MONDO_0012172
skos:prefLabel - "Factor Dย ๆฌ ๆ็—‡" + "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200789 +
http://nanbyodata.jp/ontology/NANDO_2201149 (rdf:type owl:Class @@ -146804,65 +206955,74 @@

hasNotificationNumber27hasNotificationNumber44
dcterms:identifier2200789NANDO:2201149
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_047_01.pdf
rdfs:label - "Properdin deficiency" + "Trifunctional protein deficiency, intermediate type" @en
rdfs:label - "Properdinย ๆฌ ๆ็—‡" + "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3545http://nanbyodata.jp/ontology/NANDO_1200976
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200515
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010713 + skos:altLabel + "Reyeๆง˜็—‡ๅ€™็พค" + @ja
skos:prefLabel - "Properdinย ๆฌ ๆ็—‡" + "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200790 +
http://nanbyodata.jp/ontology/NANDO_2201150 (rdf:type owl:Class @@ -146870,65 +207030,74 @@

hasNotificationNumber27hasNotificationNumber44
dcterms:identifier2200790NANDO:2201150
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_03_047_01.pdf
rdfs:label - "Factor I deficiency" + "Trifunctional protein deficiency, myopathic type" @en
rdfs:label - "Factor Iย ๆฌ ๆ็—‡" + "ใกใฏใคใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1708http://nanbyodata.jp/ontology/NANDO_1200977
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_03_047/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200515
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008737 + skos:altLabel + "Trifunctional protein deficiency, late adult-onset" + @en
skos:prefLabel - "Factor Iย ๆฌ ๆ็—‡" + "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - + + "GSD type 0a" + @en - +
http://nanbyodata.jp/ontology/nando#2200791 +
http://nanbyodata.jp/ontology/NANDO_2201151 (rdf:type owl:Class @@ -146936,72 +207105,79 @@

hasNotificationNumber27hasNotificationNumber62
dcterms:identifier2200791NANDO:2201151
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_065_01.pdf
rdfs:label - "Factor H deficiency" + "Glycogen storage disease type 0a" @en
rdfs:label - "Factor Hย ๆฌ ๆ็—‡" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใˆใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…0aๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6623http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2404
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_05_065/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200537
skos:altLabel - "Hๅ› ๅญๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012350http://purl.obolibrary.org/obo/MONDO_0009414
skos:prefLabel - "Factor Hย ๆฌ ๆ็—‡" + "็ณ–ๅŽŸ็—…0aๅž‹" @ja
- - + - - + + - + - + + "Glycogen storage disease type 0b" + @en + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใณใƒผใŒใŸ" + @ja-Hira + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200792 +
http://nanbyodata.jp/ontology/NANDO_2201152 (rdf:type owl:Class @@ -147009,72 +207185,79 @@

hasNotificationNumber27hasNotificationNumber62
dcterms:identifier2200792NANDO:2201152
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_065_01.pdf
rdfs:label - "3MCย ็—‡ๅ€™็พค" - @ja
rdfs:label - "Malpuech-Michels-Mingarelli-Carnevale syndrome" - @en
+ rdfs:label + "็ณ–ๅŽŸ็—…0bๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01887http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6967
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_05_065/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200537
skos:altLabel - "3MC syndrome" + "GSD type 0b" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017398http://purl.obolibrary.org/obo/MONDO_0012693
skos:prefLabel - "3MCย ็—‡ๅ€™็พค" + "็ณ–ๅŽŸ็—…0bๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200793 +
http://nanbyodata.jp/ontology/NANDO_2201153 (rdf:type owl:Class @@ -147082,65 +207265,79 @@

hasNotificationNumber27hasNotificationNumber64
dcterms:identifier2200793NANDO:2201153
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_066_01.pdf
rdfs:label - "MASP2 deficiency" + "Glycogen storage disease type 1a" @en
rdfs:label - "MASP2ย ๆฌ ๆ็—‡" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใˆใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…Iaๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4314http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2274
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/https://www.shouman.jp/disease/details/08_05_066/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200538
+ skos:altLabel + "GSD Ia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013423http://purl.obolibrary.org/obo/MONDO_0009287
skos:prefLabel - "MASP2ย ๆฌ ๆ็—‡" + "็ณ–ๅŽŸ็—…Iaๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + "GSD Ib" + @en - +
http://nanbyodata.jp/ontology/nando#2200794 +
http://nanbyodata.jp/ontology/NANDO_2201154 (rdf:type owl:Class @@ -147148,67 +207345,84 @@

hasNotificationNumber27hasNotificationNumber64
dcterms:identifier2200794NANDO:2201154
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_066_01.pdf
rdfs:label - "Ficolin 3ย Deficiency" + "Glycogen storage disease type 1b" @en
rdfs:label - "Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…Ibๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_049/http://nanbyodata.jp/ontology/NANDO_2200754
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2275
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_066/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200776http://nanbyodata.jp/ontology/NANDO_2200538
skos:altLabel - "Ficolin3ๆฌ ๆ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013467http://purl.obolibrary.org/obo/MONDO_0009288
skos:prefLabel - "Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡" + "็ณ–ๅŽŸ็—…Ibๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200795 +
http://nanbyodata.jp/ontology/NANDO_2201155 (rdf:type owl:Class @@ -147216,91 +207430,86 @@

hasNotificationNumber26
- dcterms:description - "ๅฑ€ๆ‰€ๆ€งใง็ช็™บๆ€งใฎ่ก€็ฎกๆ€งๆตฎ่…ซใงใ‚ใ‚Šใ€้บไผๆ€งใซใŠใ“ใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier2200795NANDO:2201155
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_050_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_067_01.pdf
rdfs:label - "hereditary angioedema" + "Glycogen storage disease type 3a" @en
rdfs:label - "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใˆใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IIIaๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01006http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_050/https://www.shouman.jp/disease/details/08_05_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100209http://nanbyodata.jp/ontology/NANDO_2200539
skos:altLabel - "C1 inhibitor deficiency" + "GSD IIIa" @en
skos:altLabel - "C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡" + "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007361
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019623http://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ" + "็ณ–ๅŽŸ็—…IIIaๅž‹" @ja
- - + - - - - - - + + - + - + + "Glycogen storage disease type 3b" + @en + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใณใƒผใŒใŸ" + @ja-Hira + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200796 +
http://nanbyodata.jp/ontology/NANDO_2201156 (rdf:type owl:Class @@ -147308,62 +207517,86 @@

hasNotificationNumber28
- dcterms:description - "ไปฅไธ‹ใฎๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ไธปใช่‡จๅบŠๅƒใ‚’็คบใ™ใ€‚Factor B๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคFactor D๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Properidin๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Factor I๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H-related protein๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคThrombomodulin๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคMASP1๏ผš 3MC๏ผˆCarnevale, Mingarelli, Malpuech, Michels๏ผ‰็—‡ๅ€™็พค๏ผˆไธก็œผ้š”้›ขใ€็œผ็ƒˆ็‹ญๅฐใ€็ƒ็Šถ็œ‰ใ€็œผ็•ฐๅฝขใ€้ ญ่“‹้ชจ็™’็€ใ€ๅฃ่“‹่ฃ‚ใ€ๅ‰ๆˆฟๆฌ ๆ๏ผ‰ๆ˜“ๆ„ŸๆŸ“ๆ€งMASP2๏ผš ๅŒ–่†ฟ่Œๆ„ŸๆŸ“็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€็‚Ž็—‡ๆ€ง่‚บ็–พๆ‚ฃCOLEC11๏ผš 3MC็—‡ๅ€™็พคCR2๏ผˆCD21๏ผ‰ๆฌ ๆ็—‡๏ผšไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CR3ๆฌ ๆ็—‡๏ผš ็™ฝ่ก€็ƒ็ฒ˜็€ไธๅ…จ็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CD46ๆฌ ๆ็—‡๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๆ„ŸๆŸ“็—‡ใ€ๅญ็™‡ๅ‰็—‡CD59ๆฌ ๆ็—‡๏ผš ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€polyneuropathyFicolin3ๆฌ ๆ็—‡๏ผšๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่†ฟ็˜" - @jahasNotificationNumber65
dcterms:identifier2200796NANDO:2201156
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_067_01.pdf
rdfs:label - "49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" - @ja
rdfs:label - "Other inherited deficiency of complement system" - @en
+ rdfs:label + "็ณ–ๅŽŸ็—…IIIbๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100209http://nanbyodata.jp/ontology/NANDO_2200539
+ skos:altLabel + "GSD IIIb" + @en
+ skos:altLabel + "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆ่‚ๅž‹๏ผ‰" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡" + "็ณ–ๅŽŸ็—…IIIbๅž‹" @ja
- - + - - + + - + - + + "Glycogen storage disease type 3c" + @en + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ" + @ja-Hira + + + + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200797 +
http://nanbyodata.jp/ontology/NANDO_2201157 (rdf:type owl:Class @@ -147371,62 +207604,100 @@

hasNotificationNumber28hasNotificationNumber65
dcterms:identifier2200797NANDO:2201157
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_067_01.pdf
rdfs:label - "Bๅ› ๅญๆฌ ๆ็—‡" - @ja
rdfs:label - "Factor B deficiency" - @en
+ rdfs:label + "็ณ–ๅŽŸ็—…IIIdๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200539
skos:altLabel - "Factorย Bๆฌ ๆ็—‡" + "GSD IIId" + @en
+ skos:altLabel + "isolated transferase deficiency" + @en
+ skos:altLabel + "ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "็ณ–ๅŽŸ็—…๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "Bๅ› ๅญๆฌ ๆ็—‡" + "็ณ–ๅŽŸ็—…IIIdๅž‹" @ja
- - + - - + + - + - + + + + + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200798 +
http://nanbyodata.jp/ontology/NANDO_2201158 (rdf:type owl:Class @@ -147434,65 +207705,86 @@

hasNotificationNumber28hasNotificationNumber65
dcterms:identifier2200798NANDO:2201158
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_067_01.pdf
rdfs:label - "Factor I deficiency" + "Glycogen storage disease type 3d" @en
rdfs:label - "Factorย Iๆฌ ๆ็—‡" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IIIdๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1708http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2280
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/https://www.shouman.jp/disease/details/08_05_067/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200539
+ skos:altLabel + "GSD IIId" + @en
+ skos:altLabel + "ฮฑ -1,4-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008737http://purl.obolibrary.org/obo/MONDO_0009291
skos:prefLabel - "Factorย Iๆฌ ๆ็—‡" + "็ณ–ๅŽŸ็—…IIIdๅž‹" @ja
- - + - - + + - + - + + "Glycogen storage disease type IV, hepatic form" + @en + "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira + + + + - + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200799 +
http://nanbyodata.jp/ontology/NANDO_2201159 (rdf:type owl:Class @@ -147500,55 +207792,86 @@

hasNotificationNumber28hasNotificationNumber66
dcterms:identifier2200799NANDO:2201159
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_068_01.pdf
rdfs:label - "Factor H-related proteinๆฌ ๆ็—‡" - @ja
rdfs:label - "complementย factor H related protein 1ย deficiency" - @en
+ rdfs:label + "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/http://nanbyodata.jp/ontology/NANDO_1200850
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200540
+ skos:altLabel + "hepatic type of GSD IV" + @en
+ skos:altLabel + "้‡็—‡่‚็กฌๅค‰ๅž‹็ณ–ๅŽŸ็—…โ…ฃๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017695
skos:prefLabel - "Factor H-related proteinๆฌ ๆ็—‡" + "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200800 +
http://nanbyodata.jp/ontology/NANDO_2201160 (rdf:type owl:Class @@ -147556,55 +207879,74 @@

hasNotificationNumber28hasNotificationNumber66
dcterms:identifier2200800NANDO:2201160
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_068_01.pdf
rdfs:label - "Thrombomodulin deficiency" + "Glycogen storage disease type IV, non-progressive hepatic form" @en
rdfs:label - "Thrombomodulinๆฌ ๆ็—‡" + "ใฒใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "้ž้€ฒ่กŒๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/https://www.shouman.jp/disease/details/08_05_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200540
+ skos:altLabel + "non-progressive hepatic type of GSD IV" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017696
skos:prefLabel - "Thrombomodulinๆฌ ๆ็—‡" + "้ž้€ฒ่กŒๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + "fatal perinatal neuromuscular type of GSD IV" + @en + + + +
http://nanbyodata.jp/ontology/nando#2200801 +
http://nanbyodata.jp/ontology/NANDO_2201161 (rdf:type owl:Class @@ -147612,62 +207954,74 @@

hasNotificationNumber28hasNotificationNumber66
dcterms:identifier2200801NANDO:2201161
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_068_01.pdf
rdfs:label - "CD21 deficiency" + "Glycogen storage disease type IV, fatal neuromuscular form" @en
rdfs:label - "CR2ๆฌ ๆ็—‡" + "ใกใ—ใ›ใ„ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "่‡ดๆญปๆ€ง็ฅž็ตŒใƒป็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/https://www.shouman.jp/disease/details/08_05_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200540
skos:altLabel - "CD21ๆฌ ๆ็—‡" - @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017697
skos:prefLabel - "CR2ๆฌ ๆ็—‡" + "่‡ดๆญปๆ€ง็ฅž็ตŒใƒป็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200802 +
http://nanbyodata.jp/ontology/NANDO_2201162 (rdf:type owl:Class @@ -147675,55 +208029,67 @@

hasNotificationNumber28hasNotificationNumber66
dcterms:identifier2200802NANDO:2201162
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_068_01.pdf
rdfs:label - "CR3 deficiency" + "Glycogen storage disease type IV, childhood combined hepatic and myopathic form" @en
rdfs:label - "CR3ๆฌ ๆ็—‡" + "ใ‚ˆใ†ใ˜ใใ‚“ใƒปใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๅนผๅ…็ญ‹ใƒป่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/https://www.shouman.jp/disease/details/08_05_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200540
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017699
skos:prefLabel - "CR3ๆฌ ๆ็—‡" + "ๅนผๅ…็ญ‹ใƒป่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200803 +
http://nanbyodata.jp/ontology/NANDO_2201163 (rdf:type owl:Class @@ -147731,62 +208097,79 @@

hasNotificationNumber28hasNotificationNumber66
dcterms:identifier2200803NANDO:2201163
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_068_01.pdf
rdfs:label - "CD46 deficiency" + "Glycogen storage disease type IV, adult form" @en
rdfs:label - "CD46ๆฌ ๆ็—‡" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2884
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_068/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200540
skos:altLabel - "Membrane cofactor protein ๆฌ ๆ็—‡" + "ใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…" @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009897
skos:prefLabel - "CD46ๆฌ ๆ็—‡" + "ๆˆไบบๅž‹็ณ–ๅŽŸ็—…IVๅž‹" @ja
- - + - - + + - + - + + "Glycogen storage disease type IXa" + @en + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใˆใƒผใŒใŸ" + @ja-Hira + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200804 +
http://nanbyodata.jp/ontology/NANDO_2201164 (rdf:type owl:Class @@ -147794,72 +208177,100 @@

hasNotificationNumber28hasNotificationNumber70
dcterms:identifier2200804NANDO:2201164
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_07_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_072_01.pdf
rdfs:label - "CD59ๆฌ ๆ็—‡" - @ja
rdfs:label - "Primary CD59 deficiency" - @en
+ rdfs:label + "็ณ–ๅŽŸ็—…IXaๅž‹" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7108http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3422
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_07_051/https://www.shouman.jp/disease/details/08_05_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200796http://nanbyodata.jp/ontology/NANDO_2200544
skos:altLabel - "Membrane attack complex inhibitorๆฌ ๆ็—‡" + "Glycogen storage disease type IX a" + @en
+ skos:altLabel + "X-linked liver glycogenosis" + @en
+ skos:altLabel + "XLG" + @en
+ skos:altLabel + "X้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012858http://purl.obolibrary.org/obo/MONDO_0010598
skos:prefLabel - "CD59ๆฌ ๆ็—‡" + "็ณ–ๅŽŸ็—…IXaๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200805 +
http://nanbyodata.jp/ontology/NANDO_2201165 (rdf:type owl:Class @@ -147867,55 +208278,100 @@

hasNotificationNumber18hasNotificationNumber70
dcterms:identifier2200805NANDO:2201165
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_08_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_072_01.pdf
rdfs:label - "hyper eosinophilic syndrome" + "Glycogen storage disease type IXb" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IXbๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_08_052/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2851
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100210http://nanbyodata.jp/ontology/NANDO_2200544
+ skos:altLabel + "GSD IXb" + @en
+ skos:altLabel + "Glycogen storage disease type IX b" + @en
+ skos:altLabel + "PHKB-Related Phosphorylase Kinase Deficiency" + @en
+ skos:altLabel + "่‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…โ…จๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009868
skos:prefLabel - "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + "็ณ–ๅŽŸ็—…IXbๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200806 +
http://nanbyodata.jp/ontology/NANDO_2201166 (rdf:type owl:Class @@ -147923,67 +208379,93 @@

hasNotificationNumber18
- dcterms:description - "ๆœซๆขข่ก€ไธญใฎๆˆ็†Ÿๅฅฝ้…ธ็ƒใŒ1500ๅ€‹/mm3ไปฅไธŠใซๅข—ๅŠ ใ—ใ€็ต„็น”ใซๆตธๆฝคใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚" - @jahasNotificationNumber70
dcterms:identifier2200806NANDO:2201166
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_08_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_072_01.pdf
rdfs:label - "hypereosinophilic syndrome" + "Glycogen storage disease type IXc" @en
rdfs:label - "็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใ—ใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IXcๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_08_052/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7312
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_05_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200805http://nanbyodata.jp/ontology/NANDO_2200544
+ skos:altLabel + "GSD IXc" + @en
+ skos:altLabel + "Glycogen storage disease type IX c" + @en
+ skos:altLabel + "PHKG2-Related Phosphorylase Kinase Deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015691http://purl.obolibrary.org/obo/MONDO_0013091
skos:prefLabel - "็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡" + "็ณ–ๅŽŸ็—…IXcๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200807 +
http://nanbyodata.jp/ontology/NANDO_2201167 (rdf:type owl:Class @@ -147991,72 +208473,93 @@

hasNotificationNumber18
- dcterms:description - "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ๏ผˆEosinophilic gastrointestinal disorders, EGIDs๏ผ‰ใฏๅฅฝ้…ธ็ƒใฎๆถˆๅŒ–็ฎกๅฑ€ๆ‰€ใธใฎ็•ฐๅธธใช้›†็ฉใ‹ใ‚‰ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡ใซใ‚ˆใ‚Š็ต„็น”ใŒๅ‚ทๅฎณใ•ใ‚Œ๏ผŒๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้ƒจไฝใซใ‚ˆใ‚Šไธปใจใ—ใฆๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEosinophilic Esophagitis, EoE๏ผ‰๏ผŒ่ƒƒ่…ธ็‚Ž ๏ผˆEosinophilic Gastroenteritis, EGE๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใพใŸEoEใ‚’็–‘ใ‚ใ‚ŒใŸใŒใƒ—ใƒญใƒˆใƒณใƒใƒณใƒ—้˜ปๅฎณ่–ฌ๏ผˆPPI๏ผ‰ใซ่‰ฏๅฅฝใชๅๅฟœใ‚’็คบใ—ใŸๅ ดๅˆใฏproton-pump inhibitor (PPI)-responsive esophageal eosinophilia๏ผˆPPI-REE๏ผ‰ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber70
dcterms:identifier2200807NANDO:2201167
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_08_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_05_072_01.pdf
rdfs:label - "Eosinophilic gastrointestinal disorders" + "Glycogen storage disease type IXd" @en
rdfs:label - "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" + "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใงใƒใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "็ณ–ๅŽŸ็—…IXdๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01782http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6603
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_08_052/https://www.shouman.jp/disease/details/08_05_072/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200805http://nanbyodata.jp/ontology/NANDO_2200544
+ skos:altLabel + "GSD IXd" + @en
+ skos:altLabel + "PHKA1-Related Phosphorylase Kinase Deficiency" + @en
+ skos:altLabel + "็ญ‹ๅž‹็ณ–ๅŽŸ็—…โ…จๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018438http://purl.obolibrary.org/obo/MONDO_0010362
skos:prefLabel - "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ" + "็ณ–ๅŽŸ็—…IXdๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200808 +
http://nanbyodata.jp/ontology/NANDO_2201168 (rdf:type owl:Class @@ -148064,74 +208567,84 @@

hasNotificationNumber40
- dcterms:description - "้ทๅปถใ‚ใ‚‹ใ„ใฏๅ†็™บใ™ใ‚‹ไผๆŸ“ๆ€งๅ˜ๆ ธ็—‡(infectious mononucleosis;IM)ๆง˜็—‡็Šถใ‚’็คบใ—ใ€ๆœซๆขข่ก€ใŠใ‚ˆใณ็—…ๅค‰็ต„็น”ใซ้ซ˜ใƒฌใƒ™ใƒซใฎEBV DNAใŒๆคœๅ‡บใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚EBVๆ„ŸๆŸ“Tใ‚ใ‚‹ใ„ใฏNK็ดฐ่ƒžใŒใƒขใƒŽใ‚ฏใƒญใƒผใƒŠใƒซใ‚ใ‚‹ใ„ใฏใ‚ชใƒชใ‚ดใ‚ฏใƒญใƒผใƒŠใƒซใซๅข—ๆฎ–ใ—้ซ˜ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็—‡็Šถใจ้šœๅฎณ่‡“ๅ™จใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber130
dcterms:identifier2200808NANDO:2201168
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_09_053_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_075_01.pdf
rdfs:label - "chronic active EB virus infection" + "Hurler Disease" @en
rdfs:label - "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "Hurler็—…" @ja
+ rdfs:label + "ใฏใƒผใ‚‰ใƒผใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_09_053/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4518
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_075/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100211http://nanbyodata.jp/ontology/NANDO_2200547
skos:altLabel - "CAEBV" + "Hurler's disease" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009194http://purl.obolibrary.org/obo/MONDO_0001586
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011758
skos:prefLabel - "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "Hurler็—…" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200809 +
http://nanbyodata.jp/ontology/NANDO_2201169 (rdf:type owl:Class @@ -148139,67 +208652,72 @@

hasNotificationNumber19
- dcterms:description - "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค๏ผˆAIDS๏ผ‰ใฏใ€ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ€ๅŽš็”ŸๅŠดๅƒ็œใฏใ€ใ€Œใƒฌใƒˆใƒญใ‚ฆใ‚คใƒซใ‚นใฎไธ€็จฎใงใ‚ใ‚‹ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น๏ผˆhuman immunodeficiency virus๏ผ›HIV๏ผ‰ใฎๆ„ŸๆŸ“ใซใ‚ˆใฃใฆๅ…็–ซไธๅ…จใŒ็”Ÿใ˜ใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒๅˆไฝตใ—ใŸ็Šถๆ…‹ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚HIVใซๆ„ŸๆŸ“ใ—ใŸๅพŒใ€CD4้™ฝๆ€งใƒชใƒณใƒ‘็ƒๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€็„ก็—‡ๅ€™ๆ€งใฎๆ™‚ๆœŸ๏ผˆ็„กๆฒป็™‚ใง็ด„10ๅนด๏ผ‰ใ‚’็ตŒใฆ้ซ˜ๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใซ้™ฅใ‚Šใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒ็”Ÿใ˜ใฆใใ‚‹ใ€‚" - @jahasNotificationNumber130
dcterms:identifier2200809NANDO:2201169
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_10_054_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_075_01.pdf
rdfs:label - "acquired immune deficiency syndrome" + "Scheie disease" @en
rdfs:label - "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" + "Scheie็—…" @ja
+ rdfs:label + "ใ—ใ‚ƒใ„ใˆใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_10_054/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4520
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_075/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100212http://nanbyodata.jp/ontology/NANDO_2200547
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012268http://purl.obolibrary.org/obo/MONDO_0011760
skos:prefLabel - "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค" + "Scheie็—…" @ja
- - + - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200810 +
http://nanbyodata.jp/ontology/NANDO_2201170 (rdf:type owl:Class @@ -148207,60 +208725,72 @@

hasNotificationNumber19hasNotificationNumber130
dcterms:identifier2200810NANDO:2201170
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_10_054_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_075_01.pdf
rdfs:label - "HIV infection" + "Hurler-Scheie disease" @en
rdfs:label - "ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น" + "Hurler-Scheie็—…" @ja
+ rdfs:label + "ใฏใƒผใ‚‰ใƒผใ—ใ‚ƒใ„ใˆใณใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_10_054/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4519
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_075/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200809http://nanbyodata.jp/ontology/NANDO_2200547
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005109http://purl.obolibrary.org/obo/MONDO_0011759
skos:prefLabel - "ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น" + "Hurler-Scheie็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200811 +
http://nanbyodata.jp/ontology/NANDO_2201171 (rdf:type owl:Class @@ -148268,62 +208798,74 @@

hasNotificationNumber20
- dcterms:description - "ๅพŒๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š่ตทใใ‚‹ๅ…็–ซไธๅ…จ็—‡ใจใ€ๅพŒๅคฉ็š„ใซ็”ฃ็”Ÿใ•ใ‚Œใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใฏใ€ไฝ“็ดฐ่ƒžใซใŠใ‘ใ‚‹้บไผๅญๅค‰็•ฐใฎ่จผๆ˜Žใจใ€่‡ชๅทฑๆŠ—ไฝ“ใฎๆธฌๅฎšใซใ‚ˆใ‚‹ใ€‚ใ“ใ‚Œใพใงใซไปฅไธ‹ใฎ็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber131
dcterms:identifier2200811NANDO:2201171
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_10_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_076_01.pdf
rdfs:label - "Phenocopies of primary immunodeficiency" + "Mucopolysaccharidosis type II, attenuated form" @en
rdfs:label - "ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡" + "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_10_055/https://www.shouman.jp/disease/details/08_06_076/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100212http://nanbyodata.jp/ontology/NANDO_2200548
+ skos:altLabel + "MPS IIB" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016316
skos:prefLabel - "ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡" + "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200812 +
http://nanbyodata.jp/ontology/NANDO_2201172 (rdf:type owl:Class @@ -148331,74 +208873,67 @@

hasNotificationNumber39
- dcterms:description - "ๆ…ขๆ€งGVHDใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใฎๆ‚ฃ่€…ใซ็™บ็—‡ใ—ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใซ้กžไผผใ—ใŸๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ๅ†็™บใƒป็”Ÿๅญ˜็Ž‡ใจ็”Ÿๆดปใฎ่ณชใซๅคงใใ้–ข้€ฃใ™ใ‚‹ๆ™ฉๆœŸๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ๆ…ขๆ€งGVHDใซ็‰นๅพด็š„ใช่‡จๅบŠๆ‰€่ฆ‹ใซๅŸบใฅใ„ใŸNIH่จบๆ–ญๅŸบๆบ–ใ‚„้‡็—‡ๅบฆๅˆคๅฎšๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œใ€ๆ—ฅๆœฌ้€ ่ก€็งปๆคๅญฆไผšใงใฏ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ(GVHD)ใŒไฝœๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber131
dcterms:identifier2200812NANDO:2201172
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_10_11_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_076_01.pdf
rdfs:label - "chronic graft-versus-host disease" + "Mucopolysaccharidosis type II, intermediate form" @en
rdfs:label - "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_11_056/https://www.shouman.jp/disease/details/08_06_076/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100213
- skos:altLabel - "chronic GVHD" - @enhttp://nanbyodata.jp/ontology/NANDO_2200548
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020547http://purl.obolibrary.org/obo/MONDO_0016316
skos:prefLabel - "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…" + "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200813 +
http://nanbyodata.jp/ontology/NANDO_2201173 (rdf:type owl:Class @@ -148406,67 +208941,74 @@

hasNotificationNumber38
- dcterms:description - "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใซใ‚ˆใฃใฆ้ ญ่“‹้ชจใซๆฌ ๆใŒ็”Ÿใ˜ใŸใ‚‚ใฎใ‚’ไบŒๅˆ†้ ญ่“‹ใจใ„ใ„ใ€ใ“ใฎ้ ญ่“‹ๆฌ ๆ้ƒจใ‹ใ‚‰้ ญ่“‹ๅ†…ๅฎนใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ—ๅšข่ƒžใ‚’ๅฝขๆˆใ—ใŸใ‚‚ใฎใ‚’่„ณ็˜คใจๅ‘ผใถใ€‚่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ซ„่†œ่„ณ็˜ค๏ผˆmeningoencephalocle๏ผ‰ใ€่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใš้ซ„่†œใ‚„้ซ„ๆถฒใฎใฟใงใ‚ใ‚Œใฐ้ซ„่†œ็˜ค๏ผˆcranial meningocele๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็ต„็น”ๅญฆ็š„ใชๆคœ็ดขใงใฏๅพŒ่€…ใงใ‚‚็˜คๅ†…ใซใฏ่„ณ็ต„็น”ใ‚’่ชใ‚ใ‚‹ใŸใ‚ใ€็ต„็น”ๅญฆ็š„ใซใฏๅŽณๅฏ†ใซ้‘‘ๅˆฅใงใใชใ„ใ€‚้ ญ่“‹ใฎๆฌ ๆใฏๆญฃไธญ้ƒจใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚็ด„90%ใฏ้ ญ่“‹ๅ††่“‹้ƒจใ€ๆฎ‹ใ‚Š็ด„10 %ใฏ้ ญ่“‹ๅบ•้ƒจใซ็™บ็”Ÿใ—ใ€ๅ…จไฝ“ใฎ2/3ใฏๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ—ใ€ๅ††่“‹้ƒจใ‚„้ผป่…”ๅ‰้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใฏๅค–่กจไธŠใง็˜คใ‚’่ชใ‚ใ‚„ใ™ใ„ใŒใ€็ฏฉ้ชจๆดžใ€่ถๅฝข้ชจๆดž้ƒจใชใฉ้ผป่…”ใ‚„ๅ‰ฏ้ผป่…”ๅ†…ใซ็™บ็”Ÿใ™ใ‚‹ใ‚‚ใฎใฏๅค–่กจไธŠใซใฏ็˜คใ‚’่ชใ‚ใชใ„ใ€‚ใพใ‚ŒใซๅพŒ้ ญใƒป้ šๆคŽ็งป่กŒ้ƒจใซ็™บ็”Ÿใ—้ šๆคŽๆคŽๅผ“ๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บ๏ผˆๅพŒ้ ญ้ƒจใจ่ƒŒ้ƒจใŒ็™’ๅˆใ—ใฆ้ š้ƒจใŒ่ƒŒๅดใซ้Žไผธๅฑ•ใ™ใ‚‹๏ผ‰ใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝข๏ผˆ่„ณๅนนใ‚„ๅฐ่„ณใฎ่„ฑๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใซใฏใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆ๏ผˆDandy-Walker็—‡ๅ€™็พค๏ผ‰ใ‚„ไป–ใฎ่„ณๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ‚„ใ™ใใ€่„ณ็ต„็น”ใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ™ใ‚‹ใŸใ‚ๅฐ้ ญ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€็ด„30%ใฎไพ‹ใซๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่„ณใฎๅฝขๆˆ็•ฐๅธธใ€ๅคงใใช่„ณ็ต„็น”ใฎ่„ฑๅ‡บใ€ๆฐด้ ญ็—‡ใชใฉใฏ็™บ้”ใ‚„็Ÿฅ่ƒฝ้ขใงใฎไบˆๅพŒไธ่‰ฏๅ› ๅญใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅบ•้ƒจ่„ณ็˜คใงใฏใ€้–‰ๅกžๆ€งใฎๅ‘ผๅธ้šœๅฎณใ€้ซ„ๆถฒๆผใซใ‚ˆใ‚‹ๅๅพฉๆ€งใฎ้ซ„่†œ็‚Žใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็˜คใŒ็ ดใ‚Œใฆ็ดฐ่Œๆ„ŸๆŸ“ใ‚’ใใŸใ™ใŸใ‚ๅค–็ง‘็š„ใซ็˜คใ‚’ไฟฎๅพฉใ—ใ€ๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚Œใฐ้ซ„ๆถฒใ‚ทใƒฃใƒณใƒˆใ‚’ๆ–ฝ่กŒใ—ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚Œใฐ่–ฌ็‰ฉๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝขใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏๅ›ฝใ€ๅœฐๅŸŸใซใ‚ˆใฃใฆๅคงใใ็•ฐใชใ‚Šใ€ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏ้ซ˜ใใชใใ€1๏ฝž2/10000ใจ่„Š้ซ„้ซ„่†œ็˜คใฎ1/5๏ฝž1/10ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไพ‹ใฏๅฅณๅ…ใซๅคšใ„ใ€‚้ซ„่†œ่„ณ็˜คใฎ็™บ็”ŸๆฉŸๅบใฏๅพ“ๆฅ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใจ่€ƒใˆใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ๅพŒใซ่„ณ็ต„็น”ใฎๅ‘จๅ›ฒใฎ้–“่‘‰็ต„็น”ใฎ็™บ็”Ÿ็•ฐๅธธใŒๅŽŸๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ๅพ“ๆฅใฎ่€ƒใˆใซๅพ“ใ„็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ็–พๆ‚ฃใฎ็ฏ„็–‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber131
dcterms:identifier2200813NANDO:2201173
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_076_01.pdf
rdfs:label - "meningoencephalocele" + "Mucopolysaccharidosis type II, severe form" @en
rdfs:label - "้ซ„่†œ่„ณ็˜ค" + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_01_001/https://www.shouman.jp/disease/details/08_06_076/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100215http://nanbyodata.jp/ontology/NANDO_2200548
+ skos:altLabel + "MPS IIA" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017079http://purl.obolibrary.org/obo/MONDO_0016315
skos:prefLabel - "้ซ„่†œ่„ณ็˜ค" + "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira - + + + + + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200814 +
http://nanbyodata.jp/ontology/NANDO_2201174 (rdf:type owl:Class @@ -148474,72 +209016,93 @@

hasNotificationNumber39
- dcterms:description - "่„Š้ซ„้ซ„่†œ็˜คใฏไบŒๅˆ†้ ญ่“‹ใ‚„็„ก่„ณ็—‡ใชใฉใจใจใ‚‚ใซ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใซๅŒ…ๆ‹ฌใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ™๏ผŽใƒ’ใƒˆใฎ่ƒŽๅ…ใงใฏ๏ผŒใใฎ่ƒŒๅดใซใ‚ใ‚‹ๅค–่ƒš่‘‰ใ‹ใ‚‰็ฅž็ตŒ็ฎกใŒๅฝขๆˆใ•ใ‚Œ๏ผŒใ“ใ‚ŒใŒ่„ณใƒป่„Š้ซ„ใธใจ็™บ้”ใ—ใฆใ„ใใพใ™๏ผŽ็ฅž็ตŒ็ฎกใŒๅฎŒๅ…จใช็ฎก็Šถๆง‹้€ ใซใชใ‚‹ใฎใฏๅ—็ฒพๅพŒ28ๆ—ฅใ”ใ‚ใจใ•ใ‚Œใฆใ„ใพใ™ใŒ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใŒ่ตทใ“ใ‚Šใ€่„Š้ซ„้ซ„่†œ็˜คใŒ็™บ็”Ÿใ—ใพใ™๏ผŽ๏ผˆๅ›ณ1๏ผ‰่„Š้ซ„้ซ„่†œ็˜คใฎๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€40ๅนดๅ‰ใฏ0.01~0.02%ใงใ—ใŸใŒๆœ€่ฟ‘ใงใฏ0.03~0.04%ใจๅข—ๅŠ ใ—ใฆใ„ใพใ™ใ€‚็ฌฌ1ๅญใŒ่„Š้ซ„้ซ„่†œ็˜คใงใ‚ใ‚‹ใจใ€็ฌฌ2ๅญใซใŠใ‘ใ‚‹ๆœฌ็—‡ใฎ็™บ็”Ÿ็Ž‡ใฏ็ด„5๏ผ…ใจใ•ใ‚ŒใฆใŠใ‚Š๏ผŒใใฎ็™บ็”Ÿใซใฏไฝ•ใ‚‰ใ‹ใฎ้บไผๅ› ๅญใฎ้–ขไธŽใŒๆŽจๅฏŸใ•ใ‚Œใพใ™๏ผŽ1) ไธ€ๆ–นใง๏ผŒๅฆŠๅจ ๅˆๆœŸใฎๅฆŠๅฉฆใซ่‘‰้…ธใ‚’ๆŠ•ไธŽใ™ใ‚‹ใจ๏ผŒไบŒๅˆ†่„ŠๆคŽใ‚’ๅซใ‚€็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็ด„70๏ผ…ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’่ปฝๆธ›ใงใใ‚‹ไบ‹ๅฎŸใ‹ใ‚‰๏ผŒๆฏไฝ“ใฎๆ „้คŠ็Šถๆ…‹ใƒปๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ•ใ‚‰ใซใฏๅ‚ฌๅฅ‡ๅฝขๆ€ง็‰ฉ่ณชใชใฉๅค–็š„่ฆๅ› ใฎ้–ขไธŽใ‚‚้‡่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™๏ผŽ2) ๅŽš็”ŸๅŠดๅƒ็œใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซใ€ๅฅๅธธใชๅฅณๆ€งใงใ‚‚ไธ่ถณใ—ใŒใกใช่‘‰้…ธใฎๆ‘‚ๅ–(0.4mg/day)ใ‚’ๅ‹งใ‚ใฆใ„ใพใ™ใ€‚" - @jahasNotificationNumber132
dcterms:identifier2200814NANDO:2201174
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_077_01.pdf
rdfs:label - "myelomeningocele" + "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" + @ja
+ rdfs:label + "Mucopolysaccharidosis type III A" @en
rdfs:label - "่„Š้ซ„้ซ„่†œ็˜ค" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_01_002/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2641
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100215http://nanbyodata.jp/ontology/NANDO_2200549
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017069 + skos:altLabel + "MPS IIIA" + @en
+ skos:altLabel + "Sanfilippo syndrome type A" + @en
+ skos:altLabel + "heparan N-sylfataseๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019773http://purl.obolibrary.org/obo/MONDO_0009655
skos:prefLabel - "่„Š้ซ„้ซ„่†œ็˜ค" + "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + + "ใณใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200815 +
http://nanbyodata.jp/ontology/NANDO_2201175 (rdf:type owl:Class @@ -148547,62 +209110,93 @@

hasNotificationNumber37
- dcterms:description - "่„Š้ซ„่„‚่‚ช่…ซใฏๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽใ‚’ไปฃ่กจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆๅฅ‡ๅฝข๏ผ‰ใงใ‚ใ‚‹๏ผŽ็šฎ่†šๅค–่ƒš่‘‰ใจ็ฅž็ตŒๅค–่ƒš่‘‰ใฎๅˆ†้›ข้šœๅฎณใซใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€ ็šฎไธ‹ใจ้€ฃ็ถšใ—ใŸ่„‚่‚ช็ต„็น”ใŒ่„ŠๆคŽ็ฎกๅ†…ใซไพตๅ…ฅใ™ใ‚‹๏ผŽ่…ฐไป™้ƒจใซๅฅฝ็™บใ™ใ‚‹๏ผŽ่„‚่‚ช่…ซใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่„Š้ซ„ๅœง่ฟซๅŠใณ็ฅž็ตŒ็ต„็น”็‰ฝๅผ•๏ผˆ่„Š้ซ„ไฟ‚็•™๏ผ‰ใซใ‚ˆใ‚Šใ€ ่†€่ƒฑ็›ด่…ธ้šœๅฎณ๏ผˆๆŽ’ๅฐฟใƒปๆŽ’ไพฟ้šœๅฎณ๏ผ‰ใŠใ‚ˆใณไธ‹่‚ข้šœๅฎณ๏ผˆ้‹ๅ‹•้šœๅฎณใƒปๆ„Ÿ่ฆš้šœๅฎณใƒป้–ข็ฏ€ๅค‰ๅฝข๏ผ‰็ญ‰ใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ ่„Š้ซ„่„‚่‚ช่…ซใฏ่ปŸ่†œไธ‹่„‚่‚ช่…ซใ€่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใ€่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใฏ็”ปๅƒๆ‰€่ฆ‹ใ‚’ใ‚‚ใจใซใ•ใ‚‰ใซๅˆ†้กžใ•ใ‚Œใ€ ่„Š้ซ„่„‚่‚ช้ซ„่†œ็˜คใ‚‚ๅซใพใ‚Œใ‚‹๏ผŽไธ€่ˆฌใซใ€่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆใฏ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅŠใณ่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใ‚’ๆŒ‡ใ™๏ผˆๅ›ณ1,2๏ผ‰๏ผŽ (ๅ›ฝๅ†…ใง่„Š้ซ„่„‚่‚ช่…ซใฏ้€šๅธธspinal lipomaใจ่‹ฑ่จณใ•ใ‚Œใ€lipomyelomenigoceleใฏ่„‚่‚ช้ซ„่†œ็˜คใจใ—ใฆไธŠ่ฟฐใ—ใŸ้€šใ‚Šใ€่„Š้ซ„่„‚่‚ช่…ซใฎไบœๅž‹ใ‚’ๆŒ‡ใ™๏ผŽ ใ—ใ‹ใ—ใ€ๆตทๅค–ใฎๆ–‡็Œฎใงใฏ่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆlipomyelomeningocele, lipomeingoceleใŒไฝฟ็”จใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ)ๅ›ณ1:่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅ›ณ2:่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซ" - @jahasNotificationNumber132
dcterms:identifier2200815NANDO:2201175
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_077_01.pdf
rdfs:label - "Spinal lipoma" + "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" + @ja
+ rdfs:label + "Mucopolysaccharidosis type III B" @en
rdfs:label - "่„Š้ซ„่„‚่‚ช่…ซ" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_01_003/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2642
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100215http://nanbyodata.jp/ontology/NANDO_2200549
+ skos:altLabel + "MPS IIIB" + @en
+ skos:altLabel + "Sanfilippo syndrome type B" + @en
+ skos:altLabel + "acetylglucosaminidaseๆฌ ๆ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009656
skos:prefLabel - "่„Š้ซ„่„‚่‚ช่…ซ" + "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + + "ใ—ใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200816 +
http://nanbyodata.jp/ontology/NANDO_2201176 (rdf:type owl:Class @@ -148610,67 +209204,93 @@

hasNotificationNumber55
- dcterms:description - "ไป™้ชจใฎๅ…ˆ็ซฏใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ๅฅ‡ๅฝข่…ซใงใ€่‡€้ƒจใ‚ˆใ‚Šๅค–ๆ–นใธ็ชๅ‡บใพใŸใฏ้ชจ็›ค่…”ๅ†…ใƒป่…น่…”ๅ†…ใธ้€ฒๅฑ•ใ™ใ‚‹ใ€‚ๅ……ๅฎŸๆ€งใ‹ใ‚‰ๅšข่ƒžๆ€งใฎใ‚‚ใฎใพใงๆง˜ใ€…ใชๅฝขๆ…‹ใ‚’ใจใ‚‹ใ€‚" - @jahasNotificationNumber132
dcterms:identifier2200816NANDO:2201176
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_02_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_077_01.pdf
rdfs:label - "sacrococcygeal teratoma" + "Cๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" + @ja
+ rdfs:label + "Mucopolysaccharidosis type III C" @en
rdfs:label - "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_02_004/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2643
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100216http://nanbyodata.jp/ontology/NANDO_2200549
+ skos:altLabel + "MPS IIIC" + @en
+ skos:altLabel + "Sanfilippo syndrome type C" + @en
+ skos:altLabel + "acetylCoA:ฮฑ-glucosaminide acetyltransferaseๆฌ ๆ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0042727http://purl.obolibrary.org/obo/MONDO_0009657
skos:prefLabel - "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ" + "Cๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + + "ใงใƒใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ" + @ja-Hira - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200817 +
http://nanbyodata.jp/ontology/NANDO_2201177 (rdf:type owl:Class @@ -148678,72 +209298,86 @@

hasNotificationNumber66
- dcterms:description - "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใ‚„ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็•ฐๅฝขๆˆใ‚’ๅซใฟใ€็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ใจๅŒ็พฉใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber132
dcterms:identifier2200817NANDO:2201177
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_03_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_077_01.pdf
rdfs:label - "lissencephaly" + "Dๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" + @ja
+ rdfs:label + "Mucopolysaccharidosis type III D" @en
rdfs:label - "ๆป‘่„ณ็—‡" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00268http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2644
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_005/https://www.shouman.jp/disease/details/08_06_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100217http://nanbyodata.jp/ontology/NANDO_2200549
+ skos:altLabel + "MPS IIID" + @en
+ skos:altLabel + "Sanfilippo syndrome type D" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018838http://purl.obolibrary.org/obo/MONDO_0009658
skos:prefLabel - "ๆป‘่„ณ็—‡" + "Dๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹" @ja
- - + - - - - - - + + - + - + + "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹" + @ja + "Mucopolysaccharidosis type IV A" + @en - - + + - + - + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200818 +
http://nanbyodata.jp/ontology/NANDO_2201178 (rdf:type owl:Class @@ -148751,77 +209385,100 @@

hasNotificationNumber72
- dcterms:description - "ๅคง่„ณ็šฎ่ณชใŒ่„ณๅฎคใซๅˆฐ้”ใ—๏ผŒใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸๅ…ˆๅคฉ็š„ใช่„ณๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใฎ็šฎ่ณชใฏๅคšๅฐ่„ณๅ›žใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคšๅฐ่„ณๅ›žใ‚’ไผดใ‚ใšใ€ใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸ็Šถๆ…‹ใ‚’ๅญ”่„ณ็—‡ใจใ‚ˆใณๅŒบๅˆฅใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€็™บ็”Ÿๆ™‚ๆœŸใฎ้•ใ„ใง็—…ๆ…‹ใฏๅ…ฑ้€šใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚็•ฐๅธธ้–“้š™ใจใ—ใฆ้ซ„ๆถฒ่…”ใ‚’ๆ˜Žใ‚‰ใ‹ใซ่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’โ€open lipโ€๏ผŒ้–“้š™ใŒ้–‰ใ˜ใฆ้ซ„ๆถฒ่…”ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’โ€closed lipโ€ใจใ‚ˆใถใ€‚" - @jahasNotificationNumber133
dcterms:identifier2200818NANDO:2201178
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_03_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_078_01.pdf
rdfs:label - "schizencephaly" - @en
rdfs:label - "่ฃ‚่„ณ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2994 + rdfs:label + "ใˆใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01160http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2645
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_006/https://www.shouman.jp/disease/details/08_06_078/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100217http://nanbyodata.jp/ontology/NANDO_2200550
+ skos:altLabel + "MPS IVA" + @en
+ skos:altLabel + "Morquio syndrome type A" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Aๅž‹" + @ja
+ skos:altLabel + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010011http://purl.obolibrary.org/obo/MONDO_0009659
skos:prefLabel - "่ฃ‚่„ณ็—‡" + "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹" @ja
- - + - - - - - - + + - + - + + + + + + "ใณใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ" + @ja-Hira - + - + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200819 +
http://nanbyodata.jp/ontology/NANDO_2201179 (rdf:type owl:Class @@ -148829,72 +209486,100 @@

hasNotificationNumber68
- dcterms:description - "็ฅž็ตŒ็ฎกใฎ่…นๅดๅŒ–้šœๅฎณใซใ‚ˆใ‚Šๅทฆๅณใฎๅคง่„ณๅŠ็ƒ๏ผˆๅ‰่„ณ๏ผ‰ใŒๅˆ†้›ขไธๅ…จใ‚’็”Ÿใ˜๏ผŒๆญฃไธญ้ƒจใงๅคง่„ณ็šฎ่ณชใƒปๅŸบๅบ•ๆ ธใƒป่ฆ–ๅบŠใฎ็™’ๅˆใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚่„ณ่‘‰ๅฝขๆˆใฎ็จ‹ๅบฆใซใ‚ˆใ‚Š็„กๅˆ†่‘‰alobar,ๅŠๅˆ†่‘‰semilobar,ๅˆ†่‘‰lobarใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber133
dcterms:identifier2200819NANDO:2201179
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_03_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_078_01.pdf
rdfs:label - "holoprosencephaly" + "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹" + @ja
+ rdfs:label + "Mucopolysaccharidosis type IV B" @en
rdfs:label - "ๅ…จๅ‰่„ณ่ƒž็—‡" - @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00267http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2646
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_007/https://www.shouman.jp/disease/details/08_06_078/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100217http://nanbyodata.jp/ontology/NANDO_2200550
+ skos:altLabel + "MPS IVB" + @en
+ skos:altLabel + "Morquio syndrome B" + @en
+ skos:altLabel + "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Bๅž‹" + @ja
+ skos:altLabel + "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016296http://purl.obolibrary.org/obo/MONDO_0009660
skos:prefLabel - "ๅ…จๅ‰่„ณ่ƒž็—‡" + "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹" @ja
- - + - - - - - - + + - + - + - - - - + "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ" + @ja-Hira - - + + - + - + + "Maroteaux-Lamy็—‡ๅ€™็พค" + @ja - - + +
http://nanbyodata.jp/ontology/nando#2200820 +
http://nanbyodata.jp/ontology/NANDO_2201180 (rdf:type owl:Class @@ -148902,91 +209587,83 @@

hasNotificationNumber71
- dcterms:description - "้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ3็—‡็Šถใ‚’ใใŸใ™ๅ…ธๅž‹ไพ‹ใฏ30%ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber134
dcterms:identifier2200820NANDO:2201180
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_03_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_079_01.pdf
rdfs:label - "septo-optic dysplasia" + "Mucopolysaccharidosis type VI, mild form" @en
rdfs:label - "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1408
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00544 + rdfs:label + "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_008/https://www.shouman.jp/disease/details/08_06_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100217http://nanbyodata.jp/ontology/NANDO_2200551
skos:altLabel - "De Morsier syndrome" - @en
skos:altLabel - "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค" + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008428 + skos:altLabel + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค" + @ja
skos:prefLabel - "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡" + "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ" + @ja-Hira - - + + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#2200821 +
http://nanbyodata.jp/ontology/NANDO_2201181 (rdf:type owl:Class @@ -148994,79 +209671,83 @@

hasNotificationNumber70
- dcterms:description - "็ฌฌ4่„ณๅฎคใจ้€ฃ็ถšใ—ใŸๅพŒ้ ญ่“‹็ชฉๆญฃไธญใฎๅšข่ƒžใจๅฐ่„ณ่™ซ้ƒจใฎๅฎŒๅ…จใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆฌ ๆใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉ็š„็—…ๅค‰ใงใ™ใ€‚ๅฐ่„ณใƒ†ใƒณใƒˆใ€้™่„ˆๆดžไบคไผšใ‚„ๆจช้™่„ˆๆดžใฎๆŒ™ไธŠใ‚’ไผดใ„ใพใ™ใ€‚" - @jahasNotificationNumber134
dcterms:identifier2200821NANDO:2201181
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_03_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_079_01.pdf
rdfs:label - "Dandy-Walker syndrome" + "Mucopolysaccharidosis type VI, intermediate form" @en
rdfs:label - "ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2052 + rdfs:label + "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_009/https://www.shouman.jp/disease/details/08_06_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100217http://nanbyodata.jp/ontology/NANDO_2200551
skos:altLabel - "Dandy-Walker็—‡ๅ€™็พค" + "Maroteaux-Lamy็—‡ๅ€™็พค" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009072 + skos:altLabel + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…" + @ja
+ skos:altLabel + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค" + @ja
skos:prefLabel - "ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค" + "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ" + @ja-Hira - - + + - + - + - - + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200822 +
http://nanbyodata.jp/ontology/NANDO_2201182 (rdf:type owl:Class @@ -149074,72 +209755,83 @@

hasNotificationNumber69
- dcterms:description - "ๆฐด้ ญ็—‡ใฏไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ ญ่“‹ๅ†…๏ผˆ่„ณๅฎคใ€ใใ‚‚่†œไธ‹่…”ใชใฉ๏ผ‰ใซ้Žๅ‰ฐใช้ซ„ๆถฒใŒ่ฒฏ็•™ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™๏ผŽ้€šๅธธใฏ่„ณๅฎคๆ‹กๅคงใ‚’ไผดใ†ใŒใ€่„ณ่กจใใ‚‚่†œไธ‹่…”ไธปไฝ“ใซ้ซ„ๆถฒใŒ่ฒฏ็•™๏ผˆๅค–ๆฐด้ ญ็—‡๏ผ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ซ„ๆถฒ่ฒฏ็•™ใซไผดใ„้ ญ่“‹ๅ†…ๅœงไบข้€ฒใซ็”ฑๆฅใ™ใ‚‹ๅ„็จฎ็—‡็Šถใƒปๅ…†ๅ€™ใ‚’ไผดใ†๏ผŽๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ใฏใ€ๆฐด้ ญ็—‡ใฎไธญใงใ‚‚่ƒŽๅ…ๆœŸใซ็™บ็—‡ใ—่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ€ใŠใ‚ˆใณ่ƒŽๅ…ๆœŸใซ็™บ็”Ÿใ—ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ‚’ๆŒ‡ใ™๏ผŽใ“ใฎไธญใซใฏไบŒๅˆ†้ ญ่“‹ใƒป่„Š้ซ„้ซ„่†œ็˜คใƒปๅ…จๅ‰่„ณ่ƒž็—‡ใชใฉไป–ใฎๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใƒป็—‡ๅ€™็พคใซไผดใฃใŸใ‚‚ใฎใจใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒไธๆ˜Žใช็‰น็™บๆ€งๆฐด้ ญ็—‡๏ผˆ้บไผๆ€งๆฐด้ ญ็—‡ใƒปๆฐด็„ก่„ณ็—‡ใƒป6q deletion็—‡ๅ€™็พคใชใฉใฎๆŸ“่‰ฒไฝ“็•ฐๅธธใซไผดใ†ใ‚‚ใฎใชใฉ๏ผ‰ใ‚’ๅซใ‚€๏ผŽ" - @jahasNotificationNumber134
dcterms:identifier2200822NANDO:2201182
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_03_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_079_01.pdf
rdfs:label - "congenital hydrocephalus" + "Mucopolysaccharidosis type VI, severe form" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01677 + rdfs:label + "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_010/https://www.shouman.jp/disease/details/08_06_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100217http://nanbyodata.jp/ontology/NANDO_2200551
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016349 + skos:altLabel + "Maroteaux-Lamy็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…" + @ja
+ skos:altLabel + "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค" + @ja
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡" + "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200823 +
http://nanbyodata.jp/ontology/NANDO_2201183 (rdf:type owl:Class @@ -149147,79 +209839,62 @@

hasNotificationNumber67
- dcterms:description - "ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใฏใ€ๅคง้ ญใซๅŠ ใˆใฆๅคšๅฐ่„ณๅ›žใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€้Žๆˆ้•ทใ€ๆŒ‡่ถพๅฅ‡ๅฝขใ€็ตๅˆ็ต„็น”็•ฐๅธธใชใฉใ‚’่ชใ‚ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนด็—‡ๅ€™็พคใจใ—ใฆ่ช่ญ˜ใ•ใ‚Œใ€2012ๅนดใซ็ดฐ่ƒžๅข—ๆฎ–ใซ้–ขไธŽใ™ใ‚‹mTORใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใŒ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚Œใฆใ‹ใ‚‰ๅ ฑๅ‘Šไพ‹ใŒๆ€ฅๅข—ใ—ใฆใ„ใ‚‹ใ€‚ๅทจ่„ณใซใ‚ˆใ‚Šใ€้ ญๅ›ฒใŒๆ‹กๅคงใ™ใ‚‹ใ ใ‘ใงใชใใ€ๅฐ่„ณๆ‰ๆกƒไธ‹ๅž‚ใซใ‚ˆใ‚‹ๆฐด้ ญ็—‡ใ‚„่„Š้ซ„็ฉบๆดž็—‡ใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚Šใ€ๆ™‚ใซๆ‰‹่ก“ใ‚’่ฆใ™ใ‚‹ใ€‚ใพใŸใ€ๅคšๅฐ่„ณๅ›žใชใฉใ€่„ณๅฎŸ่ณชใฎๅค‰ๅŒ–ใ‚’ๆฅใŸใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏMacrocephaly-cutis marmorata telangiectasia congenitaใฎ็—…ๅใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹็šฎ่†š็—…ๅค‰ใฏๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚Šใ€ๅคง็†็Ÿณๆง˜็šฎๆ–‘ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใŒๆญฃ็ขบใซ็—…ๆ…‹ใ‚’่กจใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber135
dcterms:identifier2200823NANDO:2201183
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_03_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_080_01.pdf
rdfs:label - "Megalencephaly-capillary malformation syndrome" + "Mucopolysaccharidosis type VII, severe neonatal form" @en
rdfs:label - "ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4061 + rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_03_011/https://www.shouman.jp/disease/details/08_06_080/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100217
- skos:altLabel - "Megalencephaly-capillary malformation-polymicrogyria" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011240http://nanbyodata.jp/ontology/NANDO_2200552
skos:prefLabel - "ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค" + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200824 +
http://nanbyodata.jp/ontology/NANDO_2201184 (rdf:type owl:Class @@ -149227,74 +209902,62 @@

hasNotificationNumber21
- dcterms:description - "ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏใ€1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž(่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†)ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พคใฏใ€1969ๅนดใซJoubertใŒใƒ•ใƒฉใƒณใ‚น็ณปใ‚ซใƒŠใƒ€ไบบใฎๅฎถๆ—ใซ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ‘ผๅธ็•ฐๅธธใ€็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ€ๅฐ่„ณ่™ซ้ƒจไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ๅˆใ‚ใฆๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒไธ–็•Œใง100ไพ‹ไปฅไธŠใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ใ“ใฎๆœฌๆฅใฎJoubert็—‡ๅ€™็พคใซ่…Ž้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใชใฉใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใ€Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber135
dcterms:identifier2200824NANDO:2201184
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_04_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_080_01.pdf
rdfs:label - "Joubert syndrome related disorders" + "mucopolysaccharidosis type VII, mild form" @en
rdfs:label - "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ" + @ja-Hira
+ rdfs:label + "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_04_012/https://www.shouman.jp/disease/details/08_06_080/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100218
- skos:altLabel - "Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015369http://nanbyodata.jp/ontology/NANDO_2200552
skos:prefLabel - "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ" + "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ" + @ja-Hira - - - - - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200825 +
http://nanbyodata.jp/ontology/NANDO_2201185 (rdf:type owl:Class @@ -149302,84 +209965,62 @@

hasNotificationNumber81
- dcterms:description - "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚" - @jahasNotificationNumber135
dcterms:identifier2200825NANDO:2201185
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_05_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_080_01.pdf
rdfs:label - "Rett syndrome" + "Mucopolysaccharidosis type VII, intermediate form" @en
rdfs:label - "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3558
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00440 + rdfs:label + "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_05_013/https://www.shouman.jp/disease/details/08_06_080/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100219
- skos:altLabel - "Rett็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010726http://nanbyodata.jp/ontology/NANDO_2200552
skos:prefLabel - "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค" + "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹" @ja
- - + - - - - - - + + - + - + + "ใซใ‚…ใ†ใ˜ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - + - - - - - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200826 +
http://nanbyodata.jp/ontology/NANDO_2201186 (rdf:type owl:Class @@ -149387,94 +210028,74 @@

hasNotificationNumber24
- dcterms:description - "Tuberous sclerosis(็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡)ใซ้–ขใ™ใ‚‹่จ˜่ผ‰ใฏ, 1835ๅนดPFO Rayerใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€1862ๅนดvon Recklinghausen ใซใ‚ˆใ‚Šbrain sclerosis ใ‚’ไผดใฃใŸๆ–ฐ็”Ÿๅ…ใฎcardiac tumors (myomata)ใŒใ€ใใฎๅพŒ1880ๅนดใซใ€Bournevilleใซใ‚ˆใ‚Šใฆใ‚“ใ‹ใ‚“ใ‚’ไผดใ†็ฒพ็ฅž็™บ้”้…ๆปžใฎๆ‚ฃ่€…ใฎๅ‰–ๆคœๆ‰€่ฆ‹ใจใ—ใฆ่„ณใซ็กฌๅŒ–ใ—ใŸ็ต็ฏ€ๆ€ง็—…ๅค‰'Tuberous sclerosis of the cerebral convolutions' ใจ่จ€ใ†่กจ็พใŒไฝฟใ‚ใ‚Œใ€ใ“ใ‚ŒใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅTuberous sclerosisใฎ็”ฑๆฅใจใชใฃใŸใ€‚ใ•ใ‚‰ใซใ€1890ๅนดใ€pringleใฏ้ก”้ขใฎ็šฎ่†š็—‡็Šถใ‚’adenoma sebaceum๏ผˆๅพŒๅนดใ“ใ‚Œใฏadenoma sebaceumใงใฏใชใangiofibromaใงใ‚ใ‚‹ใ“ใจใŒ็ขบ่ชใ•ใ‚Œใ‚‹๏ผ‰ใจๅ ฑๅ‘Šใ—ใŸใ€‚ใ“ใ‚ŒใŒๆœฌ็—‡ใŒBourneville-Pringle็—…ใ‚ใ‚‹ใ„ใฏPringle็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ‚†ใˆใ‚“ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ้บไผๅฝขๅผใซ้–ขใ—ใฆใฏใ€1935ๅนดใซGuntherใจPenroseใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฏๅคใใ‹ใ‚‰็Ÿฅใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใฏใ‚ใฃใŸใŒใ€ใใฎๅพŒ็ด„ๅŠไธ–็ด€ใซใ‚ใŸใฃใฆใปใจใ‚“ใฉ้€ฒๆญฉใŒ่ชใ‚ใ‚‰ใ‚Œใชใ‹ใฃใŸใ€‚1993ๅนดใซEuropian chromosome 16 tuberous sclerosis consortiumใซใ‚ˆใฃใฆ16็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฎ้บไผๅญใฎไธ€ใคTSC2้บไผๅญใŒใ€1997ๅนดใซVan Slegtnenhorstใ‚‰ใซใ‚ˆใฃใฆ9็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซTSC1้บไผๅญใŒใ‚ใ„ใคใ„ใงๅŒๅฎšใ•ใ‚Œใ‚‹ใซๅŠใ‚“ใงใ€ๆœฌ็—‡ใฎ่งฃๆ˜ŽใŒๆ€ฅ้€Ÿใซ้€ฒใ‚“ใ ใ€‚ใใ‚Œใซไผดใ„ใ€ๆœฌ็—‡ใฏ ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡่ค‡ๅˆไฝ“(Tuberous sclerosis complex)(TSC)ใจใ‚ˆใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸใ€‚TSC1้บไผๅญใจTSC2้บไผๅญใจใฏใ€ๅ…จใ็•ฐใชใฃใŸ้บไผๅญใงใ‚ใ‚‹ใŒใ€็พๅœจใฎใจใ“ใ‚ใ€่‡จๅบŠ็š„ใซTSC1,TSC2ใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใฏใงใใชใ„ใ€‚ๆœฌ็—‡ใฏๅ…จ่บซใฎ้Ž่ชค่…ซใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ€ๅคๅ…ธ็š„ใซใฏใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็™ฒ็™‡็™บไฝœๅŠใณ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซ(angiofibroma)ใ‚’ไธ‰ไธปๅพดใจใ—ใฆใใŸใŒใ€ๅ‰่ฟฐใ—ใŸใ‚ˆใ†ใซใ€้บไผๅญๆคœๆŸปใŒๅฏ่ƒฝใซใชใ‚Šใ€็จฎใ€…ใฎๆคœๆŸปๆŠ€่ก“ใ‚„ๆฉŸๅ™จใฎ้€ฒๆญฉใซไผดใ„ใ€ๅคšๆ•ฐใฎ้žๅ…ธๅž‹็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ใฎ่‡จๅบŠ็š„ใช็‰นๅพดใซๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€็ฅž็ตŒ็—‡็Šถใซ้–ขใ—ใฆใฏใ€ๅพ“ๆฅใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚„ใฆใ‚“ใ‹ใ‚“ใฎใฟใงใชใใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใšใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใฆใŠใ‚Šใ€ใ•ใ‚‰ใซใ€ๅนผๅฐๅ…ๆœŸใซ็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใšใซใ€ๆˆไบบใซใชใฃใฆๅˆใ‚ใฆ็šฎ่†šใ‚„่…Žใ€่‚บ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใ‚‚ๅข—ๅŠ ใ—ใฆใใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใซใจใฃใฆใฏใ€่ก€็ฎก็ญ‹่„‚่‚ช่…ซใชใฉใฎ่…Ž็—…ๅค‰ใ‚„ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆLymphangioleiomyomatosis LAM๏ผ‰ใชใฉใฎ่‚บ็—…ๅค‰ใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹็—…ๅค‰ใจใ—ใฆ้‡่ฆใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็”Ÿๅ‘ฝไบˆๅพŒใซใฏ้–ขไธŽใ—ใชใ„ใŒ็šฎ่†š็—…ๅค‰็‰นใซ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใฏ็คพไผš็”Ÿๆดปใ‚’่กŒใ†ไธŠใงๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใ้šœๅฎณใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎใ‚ˆใ†ใซใ€็šฎ่†šใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็›ฎใ€่…Žใ€ๅฟƒใ€่‚บใ€็ญ‰ใปใผๅ…จ่บซใซ็จฎใ€…ใฎ้Ž่ชค่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ใจๅŒๆ™‚ใซใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใ˜ใ€ใ—ใ‹ใ‚‚ใ€ๆœฌ็—‡ใงใฏใ€่‡จๅบŠ็—‡็Šถใฎ็จ‹ๅบฆใซใฏใฐใ‚‰ใคใใŒๅคšใใ€้‡็—‡ๅบฆใฎ็•ฐใชใ‚‹็จฎใ€…ใฎ็—…ๅค‰ใŒ็”Ÿๆถฏใซใ‚ใŸใ‚‹่‰ฒใ€…ใชๆ™‚ๆœŸใซใŠใ“ใฃใฆใใ‚‹ใจใ„ใ†ๆ™‚้–“็š„ใ€็ฉบ้–“็š„ใ€็จฎ้กžใ€็จ‹ๅบฆใฎๅคšๆง˜ๆ€งใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber126
dcterms:identifier2200826NANDO:2201186
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_06_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_081_01.pdf
rdfs:label - "tuberous sclerosis complex" + "fucosidosis, infantile form" @en
rdfs:label - "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1589 + rdfs:label + "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00915http://nanbyodata.jp/ontology/NANDO_1200131
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_014/https://www.shouman.jp/disease/details/08_06_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100220http://nanbyodata.jp/ontology/NANDO_2200553
skos:altLabel - "TSC" + "Fucosidosis type I" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001734
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008612
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019341
skos:prefLabel - "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡" + "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200827 +
http://nanbyodata.jp/ontology/NANDO_2201187 (rdf:type owl:Class @@ -149482,72 +210103,74 @@

hasNotificationNumber26
- dcterms:description - "็šฎ่†šใฎ่‰ฒ็ด ๆ€งๆฏๆ–‘ใจไธญๆžข็ฅž็ตŒ็ณปใฎ่ปŸ่†œ๏ผˆ้ซ„่†œ๏ผ‰ใƒกใƒฉใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber126
dcterms:identifier2200827NANDO:2201187
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_06_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_081_01.pdf
rdfs:label - "neurocutaneous melanosis" + "Fucosidosis, milder form" @en
rdfs:label - "็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡" + "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2564http://nanbyodata.jp/ontology/NANDO_1200132
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_015/https://www.shouman.jp/disease/details/08_06_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100220http://nanbyodata.jp/ontology/NANDO_2200553
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009578 + skos:altLabel + "Fucosidosis Type II" + @en
skos:prefLabel - "็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡" + "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200828 +
http://nanbyodata.jp/ontology/NANDO_2201188 (rdf:type owl:Class @@ -149555,93 +210178,91 @@

hasNotificationNumber25
- dcterms:description - "Gorlin็—‡ๅ€™็พค๏ผˆใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค๏ผ‰ใฏ1960ๅนดGorlin RJใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็™บ้”ไธŠใฎๅฅ‡ๅฝขใจ้บไผๆ€ง้ซ˜็™บ็™Œๆ€งใ‚’ไฝตใ›ๆŒใค็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅˆฅๅๆฏๆ–‘ๅŸบๅบ•็ดฐ่ƒž็™Œ็—‡ๅ€™็พคใ€ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พคใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็™บ้”ไธŠใฎๅฅ‡ๅฝขใซใฏๆ‰‹ๆŽŒใƒป่ถณๅบ•็šฎ่†šๅฐ้™ฅๅ‡นใ€ไบŒๅˆ†่‚‹้ชจใชใ„ใ—็™’ๅˆ่‚‹้ชจใ€ๆคŽ้ชจ็•ฐๅธธใ€้กŽ้ชจๅšข่ƒžใ€ๅคง่„ณ้ŽŒ็Ÿณ็ฐๅŒ–ใŒใ‚ใ‚Šใ€็™บ็™ŒใซใฏๅŸบๅบ•็ดฐ่ƒž็™Œใ€้ซ„่Šฝ่…ซใ€ๅตๅทฃ่…ซ็˜ใฎ็™บ็”Ÿ ใŒใ‚ˆใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸGorlin็—‡ๅ€™็พคใงใฏๆ—ฉๆœŸ่จบๆ–ญใ€ๆ—ฉๆœŸๆฒป็™‚ใŒๆœ›ใพใ—ใ„ใŒใ€็—‡็ŠถใŒๅ…จ่บซใซใ‚ใŸใ‚‹ใŸใ‚่จบ็™‚ๅ„็ง‘ใ‚’ๅ›žใ‚Š่จบๆ–ญใŒ้…ใ‚Œใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber129
dcterms:identifier2200828NANDO:2201188
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_06_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_082_01.pdf
rdfs:label - "Gorlin syndrome" + "alpha-mannosidosis, infantile form" @en
rdfs:label - "ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค" + "ใซใ‚…ใ†ใ˜ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=162http://nanbyodata.jp/ontology/NANDO_1200127
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_016/https://www.shouman.jp/disease/details/08_06_082/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100220
- skos:altLabel - "Gorlin็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200554
skos:altLabel - "basal cell nevus syndrome" + "alpha-mannosidosis, type I" @en
skos:altLabel - "ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พค" + "ไนณๅ…ๅž‹๏ผˆtype I๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007187http://purl.obolibrary.org/obo/MONDO_0017732
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022424
skos:prefLabel - "ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค" + "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200829 +
http://nanbyodata.jp/ontology/NANDO_2201189 (rdf:type owl:Class @@ -149649,79 +210270,79 @@

hasNotificationNumber28
- dcterms:description - "ไธญๆžข็ฅž็ตŒ็ณปใฎ่ก€็ฎก่Šฝ่…ซใ€็ถฒ่†œ่ก€็ฎก่…ซใ€่…Ž็ดฐ่ƒžใ‚ฌใƒณใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€่†ต็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎๅคš็™บ่…ซ็˜ๆ€ง็–พๆ‚ฃใ€‚่…ซ็˜ใฏๅคš็™บๆ€งใƒปๅ†็™บๆ€งใงใ€ๅคš่ก€็—‡ใ€้ซ˜่ก€ๅœงใซๅŠ ใˆใฆใ€่ฆ–ๅŠ›้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่†€่ƒฑ็›ด่…ธ้šœๅฎณใ€่…Žไธๅ…จใ€ไธๅฆŠ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่…Ž็ดฐ่ƒžใ‚ฌใƒณใฎไธ€้ƒจใฏไป–่‡“ๅ™จ่ปข็งปใ—ๆญปไบกๅŽŸๅ› ใจใชใ‚‹ใ€‚" - @jahasNotificationNumber129
dcterms:identifier2200829NANDO:2201189
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_06_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_082_01.pdf
rdfs:label - "von Hippel-Lindau disease" + "Alpha-mannosidosis, adult form" @en
rdfs:label - "ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—…" + "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ˜ใ‚“ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1637http://nanbyodata.jp/ontology/NANDO_1200128
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_017/https://www.shouman.jp/disease/details/08_06_082/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100220http://nanbyodata.jp/ontology/NANDO_2200554
skos:altLabel - "von Hippel-Lindau็—…" + "่‹ฅๅนดๆˆไบบๅž‹๏ผˆtype II๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008667http://purl.obolibrary.org/obo/MONDO_0017733
skos:prefLabel - "ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—…" + "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + "ฮฒ-mannosidosis" + @en - +
http://nanbyodata.jp/ontology/nando#2200830 +
http://nanbyodata.jp/ontology/NANDO_2201190 (rdf:type owl:Class @@ -149729,84 +210350,84 @@

hasNotificationNumber27
- dcterms:description - "ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€้ ญ่“‹ๅ†…่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘๏ผˆๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใ€็ท‘ๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฎ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใฎใซๅฏพใ—ใ€ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใงใฏ้บไผๆ€งใ‚’็คบใ—ใŸไพ‹ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚็—…ๆ…‹ใฎๅŸบๆœฌใฏ้™่„ˆ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚‹ๅพช็’ฐไธๅ…จใงใ‚ใ‚Šใ€่„ณใ€็šฎ่†šใŠใ‚ˆใณ็œผใฎๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใซใ‚ˆใ‚Š่จบๆ–ญใŒใชใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠไธŠใฎๅ•้กŒ็‚นใฏใ€ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใ€ใŠใ‚ˆใณ่ฆ–ๅŠ›ใƒป่ฆ–้‡Ž้šœๅฎณใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒไธปใงใ‚ใ‚‹ใŒใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ‚‚ๆ‚ฃ่€…ใฎ็ฒพ็ฅž็š„่‹ฆๆ‚ฉใฎๅŽŸๅ› ใซใชใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏ้€ฒ่กŒๆ€งใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ“ใจใŒๅคšใใ€ไบˆๅพŒใซๆœ€ใ‚‚ๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใ€9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซๅญ˜ๅœจใ™ใ‚‹GNAQ้บไผๅญใฎๅ˜ไธ€ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ใ€ใƒขใ‚ถใ‚คใ‚ฏๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‚ˆใ‚Šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็ต„็น”ใ‹ใ‚‰ใฎ่จบๆ–ญใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber129
dcterms:identifier2200830NANDO:2201190
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_06_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_082_01.pdf
rdfs:label - "Sturge-Weber syndrome" + "Beta-mannosidosis" @en
rdfs:label - "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" + "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
+ rdfs:label + "ในใƒผใŸใพใ‚“ใฎใ—ใฉใƒผใ—ใ™" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1479http://nanbyodata.jp/ontology/NANDO_1200129
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01809http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2547
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_06_018/https://www.shouman.jp/disease/details/08_06_082/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100220http://nanbyodata.jp/ontology/NANDO_2200554
skos:altLabel - "Sturge-Weber็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008501http://purl.obolibrary.org/obo/MONDO_0009562
skos:prefLabel - "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค" + "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™1ใŒใŸ" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200831 +
http://nanbyodata.jp/ontology/NANDO_2201191 (rdf:type owl:Class @@ -149814,84 +210435,72 @@

hasNotificationNumber56
- dcterms:description - "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚จใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅ…†ๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber118
dcterms:identifier2200831NANDO:2201191
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_07_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_084_01.pdf
rdfs:label - "Werner syndrome" + "Sialidosis type 1" @en
rdfs:label - "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3183 + rdfs:label + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นโ… ๅž‹" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01733http://nanbyodata.jp/ontology/NANDO_1200117
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_07_019/https://www.shouman.jp/disease/details/08_06_084/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100221
- skos:altLabel - "Werner็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200556
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010196http://purl.obolibrary.org/obo/MONDO_0019346
skos:prefLabel - "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค" + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นโ… ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200832 +
http://nanbyodata.jp/ontology/NANDO_2201192 (rdf:type owl:Class @@ -149899,79 +210508,82 @@

hasNotificationNumber57
- dcterms:description - "DNAไฟฎๅพฉ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒใŒ้šœๅฎณใ•ใ‚Œ้€ฒ่กŒๆ€งใซ้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่…Žไธๅ…จใ€้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้€ฒ่กŒใซใ‚ˆใ‚Š้‡ๅบฆใฎ่บซไฝ“้šœๅฎณใ‚’ๆฅใŸใ—ใ€10๏ฝž20ๆญณไปฃใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber118
dcterms:identifier2200832NANDO:2201192
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_07_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_084_01.pdf
rdfs:label - "Cockayne syndrome" + "Sialidosis type 2" @en
rdfs:label - "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" + "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00076http://nanbyodata.jp/ontology/NANDO_1200118
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_07_020/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2724
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100221 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2725
- skos:altLabel - "Cockayne็—‡ๅ€™็พค" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_084/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200556
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016006http://purl.obolibrary.org/obo/MONDO_0009738
skos:prefLabel - "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค" + "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - + + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200833 +
http://nanbyodata.jp/ontology/NANDO_2201193 (rdf:type owl:Class @@ -149979,86 +210591,89 @@

hasNotificationNumber58
- dcterms:description - "็”ŸๅพŒๅŠๅนด๏ฝž2ๅนดใ‚ˆใ‚Šๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽใ€ๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ ่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ13ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber114
dcterms:identifier2200833NANDO:2201193
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_07_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_085_01.pdf
rdfs:label - "Hutchinson-Gilford syndrome" + "galactosialidosis, early infantile form" @en
rdfs:label - "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" + "ใ—ใ‚“ใ›ใ„ใ˜ใŠใ‚ˆใณใใ†ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1290http://nanbyodata.jp/ontology/NANDO_1200120
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_07_021/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2724
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100221 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2725
- skos:altLabel - "HGPS" - @en + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_085/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200557
skos:altLabel - "Hutchinson-Gilford progeria syndrome" + "Sialidosis type II" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008310http://purl.obolibrary.org/obo/MONDO_0009738
skos:prefLabel - "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค" + "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + "ใฐใ‚“ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200834 +
http://nanbyodata.jp/ontology/NANDO_2201194 (rdf:type owl:Class @@ -150066,84 +210681,67 @@

hasNotificationNumber3
- dcterms:description - "ใ‚ซใƒŠใƒใƒณ็—…ใฏaspartoacylase(ASPA)ใฎๆฌ ๆใซใ‚ˆใ‚‹N-acetyl-aspartate(NAA)ใฎ่“„็ฉใŒใ€้€ฒ ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ1ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฏ10ๅนดไปฅๅ†…ใซๆญปไบกใ—ใ€่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚" - @jahasNotificationNumber114
dcterms:identifier2200834NANDO:2201194
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_08_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_085_01.pdf
rdfs:label - "Canavan disease" + "galactosialidosis, late infantile form" @en
rdfs:label - "ใ‚ซใƒŠใƒใƒณ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3061 + rdfs:label + "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00074http://nanbyodata.jp/ontology/NANDO_1200121
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_022/https://www.shouman.jp/disease/details/08_06_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100222
- skos:altLabel - "Canavan็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010079http://nanbyodata.jp/ontology/NANDO_2200557
skos:prefLabel - "ใ‚ซใƒŠใƒใƒณ็—…" + "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + "ใ˜ใ‚ƒใใญใ‚“ใŠใ‚ˆใณใ›ใ„ใ˜ใ‚“ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™" + @ja-Hira - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200835 +
http://nanbyodata.jp/ontology/NANDO_2201195 (rdf:type owl:Class @@ -150151,84 +210749,67 @@

hasNotificationNumber2
- dcterms:description - "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ(GFAP)ใ€ฮฑB-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑ ใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ๆ˜Ÿ็Šถ่† ็ดฐ่ƒžใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ๅธŒใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็Šถใ€MRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹(1ๅž‹)ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹(2ๅž‹)ใ€ไธญ้–“ๅž‹(3ๅž‹)ใซๅˆ†้กžใงใใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใงGFAP้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆไธปๆตใซใชใฃใฆใ„ใ‚‹ใ€‚1ๅž‹ใงใฏR79ใ€R88ใ€R239ใŒGFAP้บไผๅญๅค‰็•ฐใฎ็ด„75๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใŒใ€2ๅž‹ใงใฏ็‰นใซ้ ปๅบฆใฎ้ซ˜ใ„ๅค‰็•ฐใฏ่ชใ‚ใชใ„ใ€‚็—…ๆ…‹ใฏใพใ ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใ‚‚ใชใใ€้•ทๆœŸใซใ‚ใŸใ‚‹็™‚้คŠ็”Ÿๆดปใ‚’ๅฟ…่ฆใจใ™ใ‚‹้›ฃๆฒปๆ€ง็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber114
dcterms:identifier2200835NANDO:2201195
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_08_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_085_01.pdf
rdfs:label - "Alexander disease" + "galactosialidosis, juvenile/adult form" @en
rdfs:label - "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1723 + rdfs:label + "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00065http://nanbyodata.jp/ontology/NANDO_1200122
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_023/https://www.shouman.jp/disease/details/08_06_085/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100222
- skos:altLabel - "Alexander็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008752http://nanbyodata.jp/ontology/NANDO_2200557
skos:prefLabel - "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…" + "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200836 +
http://nanbyodata.jp/ontology/NANDO_2201196 (rdf:type owl:Class @@ -150236,67 +210817,84 @@

hasNotificationNumber4
- dcterms:description - "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1;11็–พๆ‚ฃใจๅŽŸๅ› ้บไผๅญ๏ผ‰ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)MCT8ๆฌ ๆ็—‡(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" - @jahasNotificationNumber119
dcterms:identifier2200836NANDO:2201196
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_086_01.pdf
rdfs:label - "congenital hypomyelinating leukodystrophy" + "GM1 gangliosidosis, infantile form" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + "ใซใ‚…ใ†ใ˜ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00679http://nanbyodata.jp/ontology/NANDO_1200067
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2248
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100222http://nanbyodata.jp/ontology/NANDO_2200558
+ skos:altLabel + "type 1 GM1 gangliosidosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009260
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200837 +
http://nanbyodata.jp/ontology/NANDO_2201197 (rdf:type owl:Class @@ -150304,67 +210902,84 @@

hasNotificationNumber6
- dcterms:description - "็จ€ใช็™ฝ่ณช่Ž็ธฎ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ1ๆญณใพใงใซๅคง้ ญ็—‡ใ€ๆ•ฐๅนดๅพŒใซๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็—™ๆ€งใŒๅ‡บ็พใ—ใ€้€€่กŒใ—ใฆใ„ใใ€‚้ ญ้ƒจMRIใงใ€ใณใพใ‚“ๆ€งใฎ่…ซ่„นใ€ๅฐ่„ณ็™ฝ่ณชใฎ่…ซ่„นใ€ๅด้ ญ่‘‰ๅ‰้ƒจใ‚„ๅ‰้ ญ้ ญ้ ‚้ƒจใซ็šฎ่ณชไธ‹ๅšข่ƒžใŒใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡็Šถใจ็‰นๅพด็š„ใช้ ญ้ƒจMRIๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใ™ใ‚‹ใ€‚MLC้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC1ใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC2Aใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLCใฎใ†ใก่ปฝ็—‡ใฎMLC2Bใฎ3ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber119
dcterms:identifier2200837NANDO:2201197
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_08_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_086_01.pdf
rdfs:label - "megaloencephalic leukoencephalopathy with subcortical cysts" + "GM1 gangliosidosis, juvenile form" @en
rdfs:label - "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00875http://nanbyodata.jp/ontology/NANDO_1200068
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_025/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2249
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100222http://nanbyodata.jp/ontology/NANDO_2200558
+ skos:altLabel + "type 2 GM1 gangliosidosis" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009261
skos:prefLabel - "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡" + "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200838 +
http://nanbyodata.jp/ontology/NANDO_2201198 (rdf:type owl:Class @@ -150372,72 +210987,84 @@

hasNotificationNumber5
- dcterms:description - "Vanishing white matter disease๏ผˆไปฅไธ‹ใ€VWM๏ผ‰ใฏใ€ๅฐ่„ณๅคฑ่ชฟใ‚„็—™ๆ€ง้บป็—บใŒ็ทฉๅพใซ้€ฒ่กŒใ—ใ€ๆ„ŸๆŸ“ใ‚„้ ญ้ƒจๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใซ็—‡็ŠถใŒๆ€ฅๆ€งๅข—ๆ‚ชใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใ€ๅคง่„ณ็™ฝ่ณชๅ…จไฝ“ใ‚ใ‚‹ใ„ใฏใใฎไธ€้ƒจใŒใ€่„ณ่„Š้ซ„ๆถฒใจใปใผๅŒใ˜ไฟกๅทๅผทๅบฆใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚Childhood ataxia with central nervous system hypomyelination (CACH)ใจใ‚‚ๅ‘ผใฐใ‚Œใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใ€ๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber119
dcterms:identifier2200838NANDO:2201198
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_08_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_086_01.pdf
rdfs:label - "vanishing white matter disease" + "GM1 gangliosidosis, adult form" @en
rdfs:label - "็™ฝ่ณชๆถˆๅคฑ็—…" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4193http://nanbyodata.jp/ontology/NANDO_1200069
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_026/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2250
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_086/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100222http://nanbyodata.jp/ontology/NANDO_2200558
+ skos:altLabel + "type 3 GM1 gangliosidosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011380http://purl.obolibrary.org/obo/MONDO_0009262
skos:prefLabel - "็™ฝ่ณชๆถˆๅคฑ็—…" + "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นB็•ฐๅž‹" + @ja + + + + - +
http://nanbyodata.jp/ontology/nando#2200839 +
http://nanbyodata.jp/ontology/NANDO_2201199 (rdf:type owl:Class @@ -150445,79 +211072,91 @@

hasNotificationNumber8
- dcterms:description - "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พค(X-linked ฮฑ-thalassemia/intellectual disability syndrome;ใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธ€ใคใงใ™ใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข(HbH็—…)ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ™ใ€‚ATRX้บไผๅญใŒใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ‚ฟใƒณใƒ‘ใ‚ฏATRXใฏใ‚ฏใƒญใƒžใƒใƒณใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐๅ› ๅญใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚ATRX้บไผๅญใฎๅค‰ๅŒ–ใซใ‚ˆใ‚Šใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚ฃใ‚ฏใ‚นๅˆถๅพกๆฉŸๆง‹ใฎ็ ด็ถปใŒ่ตทใ“ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญใฎ็™บ็พ็•ฐๅธธใฎใŸใ‚ใ€ๅคšๆง˜ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚่ฟ‘ๅนดใ€ATRXใ‚ฟใƒณใƒ‘ใ‚ฏใŒใ€ใ‚ฒใƒŽใƒ ใฎ็‰นๅˆฅใชๆง‹้€ ๏ผˆG-quadruplex: G4ใ€ใ‚ฐใ‚ขใƒ‹ใƒณๅ››้‡้Ž–๏ผ‰ใซ็ตๅˆใ—ใ€่ฟ‘ๅ‚ใฎ้บไผๅญใฎ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใพใ—ใŸใ€‚็พๅœจใ€ใ“ใฎใƒกใ‚ซใƒ‹ใ‚บใƒ ใ‚’ๅˆฉ็”จใ—ใŸๆฒป็™‚่–ฌใฎ้–‹็™บใŒๆŽข็ดขใ•ใ‚Œใฆใ„ใพใ™ใ€‚" - @jahasNotificationNumber120
dcterms:identifier2200839NANDO:2201199
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_09_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_087_01.pdf
rdfs:label - "ATR-X syndrome" + "Tay-Sachs disease" @en
rdfs:label - "ATR-X็—‡ๅ€™็พค" + "ใฆใ„ใƒปใ•ใฃใใ™ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3332http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3084
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_09_027/https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02016
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_087/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100223http://nanbyodata.jp/ontology/NANDO_2200559
skos:altLabel - "X-linked a-thalassemia/intellectual disability syndrome" - @en
+ skos:altLabel + "Tay-Sachs็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010519http://purl.obolibrary.org/obo/MONDO_0010100
skos:prefLabel - "ATR-X็—‡ๅ€™็พค" + "ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200840 +
http://nanbyodata.jp/ontology/NANDO_2201200 (rdf:type owl:Class @@ -150525,77 +211164,84 @@

hasNotificationNumber35
- dcterms:description - "X ๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎ FMR1 ้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50 ใ‹ใ‚‰ 200 ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑ X ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ 200 ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑ X ็—‡ๅ€™็พคใจใชใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier2200840NANDO:2201200
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_10_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_087_01.pdf
rdfs:label - "Fragile X syndrome" + "Sandhoff disease" @en
rdfs:label - "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" + "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6806http://nanbyodata.jp/ontology/NANDO_1200072
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00465http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2989
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_10_028/https://www.shouman.jp/disease/details/08_06_087/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100224http://nanbyodata.jp/ontology/NANDO_2200559
+ skos:altLabel + "Sandhoff็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010383http://purl.obolibrary.org/obo/MONDO_0010006
skos:prefLabel - "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค" + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใƒผใณใƒผใŒใŸใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™" + @ja-Hira - + - - + + - - + + - - + + + + + +
http://nanbyodata.jp/ontology/nando#2200841 +
http://nanbyodata.jp/ontology/NANDO_2201201 (rdf:type owl:Class @@ -150603,76 +211249,77 @@

hasNotificationNumber45
- dcterms:description - "็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็จฎใ€…ใฎGPIใ‚ขใƒณใ‚ซใƒผๅž‹ใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใฏๅฐ่ƒžไฝ“ใงใ‚ฟใƒณใƒ‘ใ‚ฏ่ณช้ƒจๅˆ†ใจGPI ใ‚ขใƒณใ‚ซใƒผใŒๅˆฅใ€…ใซๅˆๆˆใ•ใ‚Œใฆ็ตๅˆใ—ใ€ๅฐ่ƒžไฝ“ใ‚„ใ‚ดใƒซใ‚ธไฝ“ใงไฟฎ้ฃพใ•ใ‚Œใฆใ€็ดฐ่ƒž่†œ่กจ้ขใซ่ผธ้€ใ•ใ‚Œใ‚‹ใŒใ€ๅ…ˆๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ“ใฎ้Ž็จ‹ใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใฎใŒใ€ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡ (IGD)ใงใ‚ใ‚‹ใ€‚ใ€€IGDใงใฏใ€็Ÿฅ็š„้šœๅฎณใŒๅฟ…็™บใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„้ก”่ฒŒใƒปๆถˆๅŒ–็ฎกใƒป่…Žๅฐฟ่ทฏ็ณปใƒปๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใชใฉใฎๅฝขๆ…‹็•ฐๅธธใ€้›ฃ่ดใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้‡ๅบฆๅฟƒ่บซ้šœๅฎณๅ…ใƒป่€…ใจใชใ‚‹ใ€‚่จบๆ–ญใซใฏใ€้ก†็ฒ’็ƒใฎใƒ•ใƒญใƒผใ‚ตใ‚คใƒˆใƒกใƒˆใƒชใƒผใ€้บไผๅญๆคœๆŸปใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber120
dcterms:identifier2200841NANDO:2201201
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_11_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_087_01.pdf
+ rdfs:label + "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" + @ja
rdfs:label - "Inherited GPI deficiency" + "GM2 gangliosidosis AB variant" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_11_029/http://nanbyodata.jp/ontology/NANDO_1200073
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100225 + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3083
- skos:altLabel - "GPIๆฌ ๆ็—‡" - @ja + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_087/
- skos:altLabel - "IGD" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200559
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010099
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡" + "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200842 +
http://nanbyodata.jp/ontology/NANDO_2201202 (rdf:type owl:Class @@ -150680,72 +211327,72 @@

hasNotificationNumber65
- dcterms:description - "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค(cerebral creatine deficiency syndromes: CCDSs)ใฏใ€่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใซใ‚ˆใ‚Šใ€็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ/ใƒชใƒณ้…ธใ‚ฏใƒฌใ‚ขใƒใƒณ็ณปใฏ๏ผŒ่„ณใ‚„็ญ‹ใซใŠใ‘ใ‚‹ๅŒ–ๅญฆ็š„ใ‚จใƒใƒซใ‚ฎใƒผใฎ็ดฐ่ƒž่ณช่ฒฏ่”ตใฎ็ทฉ่ก็ณปใจใ—ใฆๅƒใ„ใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใ‚„่ผธ้€ใฎ้šœๅฎณใฏ่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใ‚’ใใŸใ—ใ€็Ÿฅ็š„้šœๅฎณใ€่จ€่ชž็™บ้”้…ๆปžใ€ใฆใ‚“ใ‹ใ‚“ใ‚’ๅผ•ใ่ตทใ“ใ™ใจใ€่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปข็งป้…ต็ด (GAMT)ๆฌ ๆ็—‡ใจใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆAGAT๏ผ‰ๆฌ ๆ็—‡ใฎ2็–พๆ‚ฃใ€ ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ไฝ“๏ผˆSLC6A8๏ผ‰ๆฌ ๆ็—‡ใฎ3็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚SLC6A8ๆฌ ๆ็—‡ใฏ้บไผๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธญใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใพใ™ใ€‚ใพใŸใ€GAMTๆฌ ๆ็—‡ใจAGATๆฌ ๆ็—‡ใฏใ€ใ‚ฏใƒฌใ‚ขใƒใƒณใฎ็ตŒๅฃๆŠ•ไธŽใŒๆœ‰ๅŠนใชใ€ๆฒป็™‚ๆ–นๆณ•ใฎใ‚ใ‚‹็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ใใฎๆ—ฉๆœŸ่จบๆ–ญใฏ้‡่ฆใงใ™ใ€‚" - @jahasNotificationNumber113
dcterms:identifier2200842NANDO:2201202
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_12_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_088_01.pdf
rdfs:label - "Cerebral creatine deficiency syndrome" + "Metachromatic leukodystrophy, late infantile form" @en
rdfs:label - "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" + "ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00849http://nanbyodata.jp/ontology/NANDO_1200079
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_12_030/https://www.shouman.jp/disease/details/08_06_088/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100226http://nanbyodata.jp/ontology/NANDO_2200560
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000456http://purl.obolibrary.org/obo/MONDO_0017729
skos:prefLabel - "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค" + "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200843 +
http://nanbyodata.jp/ontology/NANDO_2201203 (rdf:type owl:Class @@ -150753,62 +211400,77 @@

hasNotificationNumber33
- dcterms:description - "ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ็จ€ใซ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ‚ˆใ‚‹็‰นๆœ‰ใฎ้ ญ่“‹้ก”้ขใฎๅค‰ๅฝขใ‚’ๆฅใŸใ—ใ€ไป–ใฎ้ก”้ขใƒปๆŒ‡่ถพใƒปๅ››่‚ขใƒปๅ…จ่บซใฎ็•ฐๅธธใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ‚ˆใถใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ…จไฝ“ใฎ็ด„85%ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ้ƒจไฝใซๅฟœใ˜ใŸไปฃๅ„Ÿๆ€ง้ ญ่“‹้ชจๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅŽŸๅ› ใฏใปใจใ‚“ใฉใฎๅ ดๅˆไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใซใชใ‚Šไธ€้ƒจใฎ็—‡ไพ‹ใง้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใŒ็ณป็ตฑใ ใฃใŸ่งฃๆžใฏไปŠๅพŒใฎ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่ฆ‹่งฃใจ็•ฐใชใ‚Šใ€้ซ˜ๆฌก่„ณๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ“ใจใŒ่ฟ‘ๅนดๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber113
dcterms:identifier2200843NANDO:2201203
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_13_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_088_01.pdf
rdfs:label - "Non-syndromic craniosynostosis" + "Metachromatic leukodystrophy, juvenile form" @en
rdfs:label - "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_031/http://nanbyodata.jp/ontology/NANDO_1200080
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2577
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_088/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100227http://nanbyodata.jp/ontology/NANDO_2200560
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009591
skos:prefLabel - "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200844 +
http://nanbyodata.jp/ontology/NANDO_2201204 (rdf:type owl:Class @@ -150816,84 +211478,72 @@

hasNotificationNumber31
- dcterms:description - "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽApert็—‡ๅ€™็พคใฏๅฐ–้ ญๅˆๆŒ‡็—‡(acrocephalosyndactyly) type๏ผ‘ใซๅˆ†้กžใ•ใ‚Œใ‚‹็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅฝขๆ…‹ใƒป้ก”่ฒŒใƒป่„ณๅฝขๆˆ็•ฐๅธธใฎใฟใชใ‚‰ใšใ€ๅฟƒ่‡“ใƒปๆถˆๅŒ–ๅ™จใƒป้ชจ็›ค่‡“ๅ™จใซใ‚‚็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅคšใใฏๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2 exson7ใฎๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber113
dcterms:identifier2200844NANDO:2201204
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_13_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_088_01.pdf
rdfs:label - "Apert syndrome" + "Metachromatic leukodystrophy, adult form" @en
rdfs:label - "ใ‚ขใƒšใƒผใƒซ ็—‡ๅ€™็พค" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=12http://nanbyodata.jp/ontology/NANDO_1200081
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_032/https://www.shouman.jp/disease/details/08_06_088/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100227
- skos:altLabel - "Apert็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007041http://nanbyodata.jp/ontology/NANDO_2200560
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019796http://purl.obolibrary.org/obo/MONDO_0017730
skos:prefLabel - "ใ‚ขใƒšใƒผใƒซ ็—‡ๅ€™็พค" + "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200845 +
http://nanbyodata.jp/ontology/NANDO_2201205 (rdf:type owl:Class @@ -150901,79 +211551,72 @@

hasNotificationNumber32
- dcterms:description - "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚Crouzon็—…ใฏ็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€ๅˆๆŒ‡ใƒป่ถพ็—‡ใฏไผดใ‚ใชใ„๏ผŽ้ ญ่“‹ๅ†…ๅœงไบข้€ฒใƒป้ ญ่“‹ๅค‰ๅฝขใƒป็œผ็ƒ็ชๅ‡บใซๅŠ ใˆไธŠๆฐ—้“็‹ญ็ช„ใƒปไธญ้ก”้ขไฝŽๅฝขๆˆ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็™บ็—‡ๅฝขๆ…‹ๆง˜ๅผใฎๅ€‹ไบบๅทฎใŒๆฅตใ‚ใฆๅคงใใ„ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ“ใจ ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2ๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber113
dcterms:identifier2200845NANDO:2201205
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_13_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_088_01.pdf
rdfs:label - "Crouzon disease" + "Saposin B deficiency" @en
rdfs:label - "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…" + "ใ•ใฝใ—ใ‚“ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=374http://nanbyodata.jp/ontology/NANDO_1200082
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_033/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2576
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100227
- skos:altLabel - "Crouzon็—…" - @jahttp://nanbyodata.jp/ontology/NANDO_2200560
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007405http://purl.obolibrary.org/obo/MONDO_0009590
skos:prefLabel - "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…" + "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "Niemann-Pick disease type A" + @en + "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใŒใŸ" + @ja-Hira + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200846 +
http://nanbyodata.jp/ontology/NANDO_2201206 (rdf:type owl:Class @@ -150981,62 +211624,84 @@

hasNotificationNumber34
- dcterms:description - "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber123
dcterms:identifier2200846NANDO:2201206
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_089_01.pdf
rdfs:label - "30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡" - @ja
rdfs:label - "Other craniosynostosis" - @en
+ rdfs:label + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_034/http://nanbyodata.jp/ontology/NANDO_1200061
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2743
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100227http://nanbyodata.jp/ontology/NANDO_2200561
+ skos:altLabel + "Niemann-Pick็—…Aๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009756
skos:prefLabel - "30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡" + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹" @ja
- - + - - + + - + - + + + + + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200847 +
http://nanbyodata.jp/ontology/NANDO_2201207 (rdf:type owl:Class @@ -151044,77 +211709,84 @@

hasNotificationNumber34hasNotificationNumber123
dcterms:identifier2200847NANDO:2201207
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_089_01.pdf
rdfs:label - "Carpenter syndrome" + "Niemann-Pick disease type B" @en
rdfs:label - "Carpenter็—‡ๅ€™็พค" + "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใณใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1678http://nanbyodata.jp/ontology/NANDO_1200062
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_034/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4619
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200846http://nanbyodata.jp/ontology/NANDO_2200561
skos:altLabel - "ใ‚ซใƒผใƒšใƒณใ‚ฟใƒผ็—‡ๅ€™็พค" + "Niemann-Pick็—…Bๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008710
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019012http://purl.obolibrary.org/obo/MONDO_0011871
skos:prefLabel - "Carpenter็—‡ๅ€™็พค" + "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹" @ja
- - + - - + + - + - + + + + + - + - - - - - - - - - - - - - + + + + +
http://nanbyodata.jp/ontology/nando#2200848 +
http://nanbyodata.jp/ontology/NANDO_2201208 (rdf:type owl:Class @@ -151122,72 +211794,67 @@

hasNotificationNumber34hasNotificationNumber123
dcterms:identifier2200848NANDO:2201208
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_089_01.pdf
rdfs:label - "Saethre-Chotzen syndrome" + "infantile-onset Niemann-Pick disease type C" @en
rdfs:label - "Seather-Chotzen็—‡ๅ€™็พค" + "ใซใ‚…ใ†ใ˜ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=13http://nanbyodata.jp/ontology/NANDO_1200064
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_034/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200846
- skos:altLabel - "ใ‚ผใƒผใƒ„ใƒฌโ€ใ‚ณใƒƒใƒ„ใ‚งใƒณ็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007042https://www.shouman.jp/disease/details/08_06_089/
+ rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200561
skos:prefLabel - "Seather-Chotzen็—‡ๅ€™็พค" + "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" @ja
- - + - - + + - + - + + + + + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200849 +
http://nanbyodata.jp/ontology/NANDO_2201209 (rdf:type owl:Class @@ -151195,41 +211862,72 @@

hasNotificationNumber34hasNotificationNumber123
dcterms:identifier2200849NANDO:2201209
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_13_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_089_01.pdf
rdfs:label - "ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡" + "adult-onset Niemann-Pick disease type C" + @en
+ rdfs:label + "ใ›ใ„ใ˜ใ‚“ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_13_034/http://nanbyodata.jp/ontology/NANDO_1200065
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_089/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200846http://nanbyodata.jp/ontology/NANDO_2200561
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016310
+ skos:prefLabel + "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹" + @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200850 +
http://nanbyodata.jp/ontology/NANDO_2201210 (rdf:type owl:Class @@ -151237,87 +211935,91 @@

hasNotificationNumber79
- dcterms:description - "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber116
dcterms:identifier2200850NANDO:2201210
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_14_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_090_01.pdf
rdfs:label - "moyamoya disease" + "Gaucher disease type 1" @en
rdfs:label - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†1ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2635http://nanbyodata.jp/ontology/NANDO_1200057
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01396http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2253
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_14_035/https://www.shouman.jp/disease/details/08_06_090/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100228http://nanbyodata.jp/ontology/NANDO_2200562
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009649 + skos:altLabel + "GD type 1" + @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016820 + skos:altLabel + "Gaucher็—…1ๅž‹" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018792http://purl.obolibrary.org/obo/MONDO_0009265
skos:prefLabel - "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…" + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "Gaucher็—…2ๅž‹" + @ja - +
http://nanbyodata.jp/ontology/nando#2200851 +
http://nanbyodata.jp/ontology/NANDO_2201211 (rdf:type owl:Class @@ -151325,79 +212027,84 @@

hasNotificationNumber73
- dcterms:description - "ๅคงๅฐๆง˜ใ€…ใช็•ฐๅธธๅ‹•้™่„ˆ้–“ใซ็›ดๆŽฅๅปๅˆใŒใ‚ใ‚Šใ€็•ฐๅธธใช่ก€็ฎกๅกŠ๏ผˆใƒŠใ‚คใƒ€ใ‚น๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๆฏ›็ดฐ่ก€็ฎกใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€ๅ‹•่„ˆ่ก€ใฏ็›ดๆŽฅ้™่„ˆ็ณปใซ็งป่กŒใ™ใ‚‹ใ€‚" - @jahasNotificationNumber116
dcterms:identifier2200851NANDO:2201211
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_15_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_090_01.pdf
rdfs:label - "Cerebral arteriovenous malformation" + "Gaucher disease type 2" @en
rdfs:label - "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=128http://nanbyodata.jp/ontology/NANDO_1200058
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_15_036/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2254
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_090/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100229http://nanbyodata.jp/ontology/NANDO_2200562
skos:altLabel - "Cerebral AVM" - @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007154http://purl.obolibrary.org/obo/MONDO_0009266
skos:prefLabel - "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข" + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200852 +
http://nanbyodata.jp/ontology/NANDO_2201212 (rdf:type owl:Class @@ -151405,62 +212112,84 @@

hasNotificationNumber9
- dcterms:description - "็•ฐๅธธใซๆ‹กๅผตใ—ใŸๆดžๆง˜่ก€็ฎกใŒ้™ๅฑ€็š„ใซๅฏ†ใซ้›†ๅˆใ—ใ€ใใฎใŸใ‚ๅ„่ก€็ฎกใฎ้–“ใซๆญฃๅธธ่„ณ็ต„็น”ใŒใฟใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€ง่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber116
dcterms:identifier2200852NANDO:2201212
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_16_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_090_01.pdf
rdfs:label - "Cavernous angioma of the brain and spinal cord" + "Gaucher disease type 3" @en
rdfs:label - "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" + "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†3ใŒใŸ" + @ja-Hira
+ rdfs:label + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_16_037/http://nanbyodata.jp/ontology/NANDO_1200059
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2255
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_090/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100230http://nanbyodata.jp/ontology/NANDO_2200562
+ skos:altLabel + "Gaucher็—…3ๅž‹" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009267
skos:prefLabel - "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰" + "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200853 +
http://nanbyodata.jp/ontology/NANDO_2201213 (rdf:type owl:Class @@ -151468,72 +212197,77 @@

hasNotificationNumber40
- dcterms:description - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡(SMA)ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹(OMIM#253300)ใ€IIๅž‹(OMIM#253550)ใ€IIIๅž‹(OMIM#253400)ใ€IVๅž‹(OMIM#27115)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95%ใซSMN้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ1๏ผ2ๅ‰ฒใซใŠใ„ใฆSMN๏ผˆsurvival motor neuron๏ผ‰้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber125
dcterms:identifier2200853NANDO:2201213
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_17_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_091_01.pdf
rdfs:label - "spinal muscular atrophy" + "classical Fabry disease" @en
rdfs:label - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" + "ใ“ใฆใ‚“ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00455http://nanbyodata.jp/ontology/NANDO_1200158
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_17_038/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_091/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100231http://nanbyodata.jp/ontology/NANDO_2200563
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001516http://purl.obolibrary.org/obo/MONDO_0010526
skos:prefLabel - "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡" + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200854 +
http://nanbyodata.jp/ontology/NANDO_2201214 (rdf:type owl:Class @@ -151541,77 +212275,84 @@

hasNotificationNumber47
- dcterms:description - "ๅ…ˆๅคฉๆ€ง็„ก็—›็—‡ใฏ้บไผๆ€งๆ„Ÿ่ฆšใƒป่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ(HSAN)ใซๅฑžใ™ใ‚‹็–พๆ‚ฃใงใ€ใ“ใฎใ†ใก4ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡๏ผšCongenital Insensitivity to Pain with Anhidrosis๏ผšCIPA๏ผ‰ใจ5ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็—‡๏ผšCongenital Insensitivity to Pain๏ผšCIP๏ผ‰ใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚CIPAใงใฏๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’ๅˆไฝตใ—ใ€็จฎใ€…ใฎ็จ‹ๅบฆใฎ็Ÿฅ่ƒฝไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber125
dcterms:identifier2200854NANDO:2201214
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_18_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_091_01.pdf
rdfs:label - "congenital insensitIVity to pain with anhidrosis" + "variant Fabry disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" + "ใ‚ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2733http://nanbyodata.jp/ontology/NANDO_1200159
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01836http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3339
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_18_039/https://www.shouman.jp/disease/details/08_06_091/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100232http://nanbyodata.jp/ontology/NANDO_2200563
+ skos:altLabel + "late-onset Fabry disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009746http://purl.obolibrary.org/obo/MONDO_0010526
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡" + "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…" @ja
- - + - - - - - - + + - + - + + "ใตใใถใ‚Šใƒผใณใ‚‡ใ†ใ‘ใ‚“ใ›ใ„ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„" + @ja-Hira - - - - - - - - - + - - - - + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“" + @ja - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200855 +
http://nanbyodata.jp/ontology/NANDO_2201215 (rdf:type owl:Class @@ -151619,89 +212360,67 @@

hasNotificationNumber46
- dcterms:description - "ๆœซๆขข็ฅž็ตŒใŒ้บไผ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจใ‚ˆใถใ€‚ๆœซๆขข็ฅž็ตŒใฏ้‹ๅ‹•็ฅž็ตŒใ€ๆ„Ÿ่ฆš็ฅž็ตŒใ€่‡ชๅพ‹็ฅž็ตŒใซๅคงๅˆฅใ•ใ‚Œใ€ใพใŸๆง‹้€ ไธŠ่ปธ็ดขใจ้ซ„้ž˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ“ใ‚Œใ‚‰ๆœซๆขข็ฅž็ตŒๆง‹ๆˆๆˆๅˆ†ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็”Ÿใ˜ใฆใŠใ‚Šใ€้›ปๆฐ—็”Ÿ็†ๆคœๆŸปใŠใ‚ˆใณ้บไผๅญฆ็š„ๆคœๆŸปใซใ‚ˆใฃใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚" - @jahasNotificationNumber125
dcterms:identifier2200855NANDO:2201215
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_18_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_091_01.pdf
rdfs:label - "Hereditary Motor and Sensory Neuropathy" + "heterozygous Fabry disease" @en
rdfs:label - "้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" - @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_18_040/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100232
- skos:altLabel + rdfs:label - "Charcot-Marie-Tooth disease" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002316
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015358 + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200160
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015626 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_091/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018995 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200563
skos:prefLabel - "้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" + "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“" @ja
- - + - - - - - - + + - + - + + "ใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200856 +
http://nanbyodata.jp/ontology/NANDO_2201216 (rdf:type owl:Class @@ -151709,84 +212428,79 @@

hasNotificationNumber14
- dcterms:description - "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅฐๅ…ๆœŸ็™บ็—‡ใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber115
dcterms:identifier2200856NANDO:2201216
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_092_01.pdf
rdfs:label - "Duchenne muscular dystrophy" + "Infantile Krabbe disease" @en
rdfs:label - "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3509 + rdfs:label + "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01963http://nanbyodata.jp/ontology/NANDO_1200075
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_041/https://www.shouman.jp/disease/details/08_06_092/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233http://nanbyodata.jp/ontology/NANDO_2200564
skos:altLabel - "Duchenneๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ไนณๅ…ๅž‹Krabbe็—…" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010679http://purl.obolibrary.org/obo/MONDO_0016089
skos:prefLabel - "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - -
http://nanbyodata.jp/ontology/nando#2200857 +
http://nanbyodata.jp/ontology/NANDO_2201217 (rdf:type owl:Class @@ -151794,74 +212508,69 @@

hasNotificationNumber11
- dcterms:description - "ๅนผๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๆฏ”่ผƒ็š„็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹ใฎใปใ‹ใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‹ใ‚‰่ชใ‚ใ‚‹้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒไผๅฐŽ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber115
dcterms:identifier2200857NANDO:2201217
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_092_01.pdf
rdfs:label - "Emery-Dreifuss muscular dystrophy" + "Late-infantile Krabbe disease" @en
rdfs:label - "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅพŒๆœŸไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_042/https://www.shouman.jp/disease/details/08_06_092/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233http://nanbyodata.jp/ontology/NANDO_2200564
skos:altLabel - "Emery-Dreifussๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๅพŒๆœŸไนณๅ…ๅž‹Krabbe็—…" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016830
skos:prefLabel - "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๅพŒๆœŸไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200858 +
http://nanbyodata.jp/ontology/NANDO_2201218 (rdf:type owl:Class @@ -151869,72 +212578,74 @@

hasNotificationNumber13
- dcterms:description - "Duchenneๅž‹ใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹ใ€ๅ…ˆๅคฉๅž‹ใซใ‚ใ‚‹ใ‚ˆใ†ใช่‡จๅบŠ่จบๆ–ญ็š„็‰นๅพดใ‚’ๆฌ ใ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซใคใ‘ใ‚‰ใ‚ŒใŸ่‡จๅบŠ่จบๆ–ญๅ" - @jahasNotificationNumber115
dcterms:identifier2200858NANDO:2201218
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_092_01.pdf
rdfs:label - "limb-girdle muscular dystrophy" + "Juvenile Krabbe disease" @en
rdfs:label - "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00593http://nanbyodata.jp/ontology/NANDO_1200076
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_043/https://www.shouman.jp/disease/details/08_06_092/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233http://nanbyodata.jp/ontology/NANDO_2200564
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016971 + skos:altLabel + "่‹ฅๅนดๅž‹Krabbe็—…" + @ja
skos:prefLabel - "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + "ๆˆไบบๅž‹Krabbe็—…" + @ja + + + +
http://nanbyodata.jp/ontology/nando#2200859 +
http://nanbyodata.jp/ontology/NANDO_2201219 (rdf:type owl:Class @@ -151942,74 +212653,79 @@

hasNotificationNumber12
- dcterms:description - "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’ใจใ‚Šใ€้ก”้ข็ญ‹ใ€่‚ฉ็”ฒใ€ไธŠ่…•่ฟ‘ไฝ้ƒจใฎ็ญ‹ใŒไธปใซ้šœๅฎณใ‚’ใ†ใ‘ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber115
dcterms:identifier2200859NANDO:2201219
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_092_01.pdf
rdfs:label - "facio-scapulohumeral muscular dystrophy" + "Adult Krabbe disease" @en
rdfs:label - "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00591http://nanbyodata.jp/ontology/NANDO_1200077
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_044/https://www.shouman.jp/disease/details/08_06_092/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233http://nanbyodata.jp/ontology/NANDO_2200564
skos:altLabel - "FSMD" - @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016091
skos:prefLabel - "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200860 +
http://nanbyodata.jp/ontology/NANDO_2201220 (rdf:type owl:Class @@ -152017,89 +212733,91 @@

hasNotificationNumber15
- dcterms:description - "1960ๅนดใซ็ฆๅฑฑใ‚‰ใซๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงๆ—ฅๆœฌไบบใซๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ๏ผŒ้‡ๅบฆใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผŒ็ฅž็ตŒ็ดฐ่ƒž้Š่ตฐ้šœๅฎณใซใ‚ˆใ‚‹่„ณๅฅ‡ๅฝขใจ้ซ˜้ ปๅบฆใฎ็œผๅˆไฝต็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹๏ผŽ1990ๅนดไปฃใซ9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠ้บไผๅญๅบง(9q31-33)ใฎๅŒๅฎšใซๅผ•ใ็ถšใ๏ผŒๅŽŸๅ› ้บไผๅญfukutin๏ผˆFKTN๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŽFKTN้บไผๅญ็”ฃ็‰ฉใฏฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒณ๏ผˆฮฑ-dystroglycan: ฮฑ-DG๏ผ‰ใฎ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใจ่€ƒใˆใ‚‰ใ‚Œ๏ผŒฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไธ€็พคใซๅฑžใ™ใ‚‹๏ผŽ" - @jahasNotificationNumber124
dcterms:identifier2200860NANDO:2201220
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_045_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "Fukuyama congenital muscular dystrophy" + "Type 1 Farber disease" @en
rdfs:label - "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ“ใฆใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2665http://nanbyodata.jp/ontology/NANDO_1200087
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01957http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_045/https://www.shouman.jp/disease/details/08_06_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233http://nanbyodata.jp/ontology/NANDO_2200565
skos:altLabel - "FCMD" + "classic FD" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009678 + skos:altLabel + "ๅคๅ…ธๅž‹Farber็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0023204http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200861 +
http://nanbyodata.jp/ontology/NANDO_2201221 (rdf:type owl:Class @@ -152107,77 +212825,91 @@

hasNotificationNumber16
- dcterms:description - "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1994ๅนดใซTomรฉใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒๆฌง็ฑณใซ้ ปๅบฆใŒ้ซ˜ใๆ—ฅๆœฌใงใฏ็จ€ใงใ‚ใ‚‹๏ผŽใƒฉใƒŸใƒ‹ใƒณฮฑ2้Ž–ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹LNMA2้บไผๅญใซใ‚ˆใ‚Š๏ผŒใƒฉใƒŸใƒ‹ใƒณ211๏ผˆใƒกใƒญใ‚ทใƒณ๏ผ‰ใฎๅฎŒๅ…จใพใŸใฏ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŽ้ž็ฆๅฑฑๅž‹ใซๅˆ†้กžใ•ใ‚Œ๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽ" - @jahasNotificationNumber124
dcterms:identifier2200861NANDO:2201221
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_046_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "merosin-deficient congenital muscular dystrophy" + "Type 2 Farber disease" @en
rdfs:label - "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4669http://nanbyodata.jp/ontology/NANDO_1200088
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01958http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_046/https://www.shouman.jp/disease/details/08_06_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233http://nanbyodata.jp/ontology/NANDO_2200565
+ skos:altLabel + "Intermediate FD" + @en
+ skos:altLabel + "ไธญ้–“ๅž‹Farber็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011925http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "mild FD" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#2200862 +
http://nanbyodata.jp/ontology/NANDO_2201222 (rdf:type owl:Class @@ -152185,84 +212917,91 @@

hasNotificationNumber10
- dcterms:description - "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1930ๅนดใซUllrichใŒscleroatonic (sclero: ่ฟ‘ไฝ้–ข็ฏ€ๆ‹˜็ธฎใ€atonic:ใ€€้ ไฝ้–ข็ฏ€้Žไผธๅฑ•) congenital muscular dystrophyใจใ—ใฆๅ ฑๅ‘Šใ—๏ผŒๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎๆฌกใซ้ ปๅบฆใฎ้ซ˜ใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽVIๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ‚ˆใ‚Š๏ผŒ้‡็—‡ๅž‹ใฎUllrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจ่ปฝ็—‡ๅž‹ใฎBethlemๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็”Ÿใ˜ใ‚‹๏ผŽ" - @jahasNotificationNumber124
dcterms:identifier2200862NANDO:2201222
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_047_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "Ullrich congenital muscular dystrophy" + "Type 3 Farber disease" @en
rdfs:label - "ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2668http://nanbyodata.jp/ontology/NANDO_1200089
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_047/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233http://nanbyodata.jp/ontology/NANDO_2200565
skos:altLabel - "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000355 + skos:altLabel + "่ปฝ็—‡ๅž‹Farber็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009681http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - - + + - + - + + "Type 4 Farber disease" + @en - - - - - - - - + "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira - + - -
http://nanbyodata.jp/ontology/nando#2200863 +
http://nanbyodata.jp/ontology/NANDO_2201223 (rdf:type owl:Class @@ -152270,123 +213009,91 @@

hasNotificationNumber17hasNotificationNumber124
dcterms:identifier2200863NANDO:2201223
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
rdfs:label - "Other muscular dystrophy" - @en
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_048/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100233
- skos:prefLabel + rdfs:label - "38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - - - - + + - - + + - - + + - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200864 - (rdf:type - - owl:Class - ) - -
hasNotificationNumber17 + rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200090
- dcterms:description - "ไนณๅนผๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ็ท็งฐใงใ‚ใ‚‹๏ผŽๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹๏ผˆFukuyama type CMD๏ผšFCMD๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„๏ผŽใใฎไป–Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆUllrich congenital muscular dystrophy: UCMD๏ผ‰๏ผŒLMNA้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ใ‚‚ใฎ๏ผˆlamin related CMD๏ผšL-CMD๏ผ‰ใ‚„ใƒกใƒญใ‚ทใƒณๆฌ ๆ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใŒใ€็—…ๅ› ใŒๅŒๅฎšใงใใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹๏ผŽ็ฆๅฑฑๅž‹ใฎ็—…ๅ› ใงใ‚ใ‚‹fukutin้บไผๅญใชใฉใฏ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’ฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจ็ท็งฐใ™ใ‚‹๏ผŽ" - @ja + rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
- dcterms:identifier2200864 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_093/
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200565
- rdfs:label + skos:altLabel - "Myotonic dystrophy" + "neonatal-visceral FD" @en
- rdfs:label + skos:altLabel - "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๆ–ฐ็”Ÿๅ…ๅž‹Farber็—…" @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_048/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200863
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016107http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200865 +
http://nanbyodata.jp/ontology/NANDO_2201224 (rdf:type owl:Class @@ -152394,89 +213101,91 @@

hasNotificationNumber17
- dcterms:description - "่‡จๅบŠ็—‡็Šถใฏใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆDMD๏ผ‰ใซ้กžไผผใ™ใ‚‹ใŒใ€็™บ็—‡ๆ™‚ๆœŸใ‚„้€ฒ่กŒใŒใ‚ˆใ‚Š้…ใใ€ๆญฉ่กŒไธ่ƒฝๆ™‚ๆœŸใฏๅฐ‘ใชใใจใ‚‚15ๆญณไปฅ้™ใงใ‚ใ‚‹๏ผŽDMDใจ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ‚ˆใ†ใชๆ—ฉๆœŸ็™บ็—‡ไพ‹ใ‹ใ‚‰ใ€ๆˆไบบๅพŒๆœŸ็™บ็—‡ใพใง้‡็—‡ๅบฆใซๅน…ใŒใ‚ใ‚‹๏ผŽ็™บ็—‡ใ™ใ‚‹ใจ็ทฉๅพใซ้‹ๅ‹•ๆฉŸ่ƒฝไฝŽไธ‹ใ‚’็คบใ™ใ“ใจใ‚‚ๅคšใ„๏ผŽๅฐๅ…ๆœŸใซใŸใพใŸใพ่กŒใฃใŸๆคœๆŸปใซใ‚ˆใฃใฆๆœช็™บ็—‡ใฎ็Šถๆ…‹ใง้ซ˜CK่ก€็—‡ใ‚’่ชใ‚ใŸใ“ใจใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใซ่‡ณใ‚‹ไพ‹ใ‚‚ๅคšใ„๏ผŽ" - @jahasNotificationNumber124
dcterms:identifier2200865NANDO:2201224
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "Becker muscular dystrophy" + "Type 5 Farber disease" @en
rdfs:label - "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3302http://nanbyodata.jp/ontology/NANDO_1200091
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01964http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_048/https://www.shouman.jp/disease/details/08_06_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200863http://nanbyodata.jp/ontology/NANDO_2200565
skos:altLabel - "BMD" + "Neurological Progressive variant" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007931 + skos:altLabel + "neurologic FD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010311http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - - - - - - + + - + - + + "Type 6 Farber disease" + @en + "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†ใŒใฃใบใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200866 +
http://nanbyodata.jp/ontology/NANDO_2201225 (rdf:type owl:Class @@ -152484,79 +213193,84 @@

hasNotificationNumber17
- dcterms:description - "็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆˆไบบๆœŸใพใงๅน…ๅบƒใ„๏ผŽ้ชจๆ ผ็ญ‹็—‡็Šถไปฅๅค–ใซๅคš่‡“ๅ™จใฎ็—‡็Šถใ‚’ๅˆไฝตใ—ใ†ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ1ๅž‹๏ผˆDM1๏ผ‰ใจ2ๅž‹๏ผˆDM2๏ผ‰ใŒๅญ˜ๅœจใ™ใ‚‹ใŒๆ—ฅๆœฌใงใฏใปใจใ‚“ใฉใŒDM1ใงใ‚ใ‚‹๏ผŽ" - @jahasNotificationNumber124
dcterms:identifier2200866NANDO:2201225
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_19_048_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" - @ja
rdfs:label - "lamin related CMD" - @en
+ rdfs:label + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7380http://nanbyodata.jp/ontology/NANDO_1200092
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_19_048/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2205
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200863http://nanbyodata.jp/ontology/NANDO_2200565
skos:altLabel - "L-CMD" + "Combined Farber and Sandhoff Disease variant" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013178http://purl.obolibrary.org/obo/MONDO_0009218
skos:prefLabel - "LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200867 +
http://nanbyodata.jp/ontology/NANDO_2201226 (rdf:type owl:Class @@ -152564,79 +213278,74 @@

hasNotificationNumber52
- dcterms:description - "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber124
dcterms:identifier2200867NANDO:2201226
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_049_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf
rdfs:label - "myotubular myopathy" + "Type 7 Farber disease" @en
rdfs:label - "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใตใใƒผใฐใƒผใณใ‚‡ใ†๏ผˆใทใ‚ใ•ใฝใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_049/http://nanbyodata.jp/ontology/NANDO_1200093
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_093/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100234http://nanbyodata.jp/ontology/NANDO_2200565
skos:altLabel - "Centronuclear myopathy" + "Prosaposin Deficiency" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002921
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018947
skos:prefLabel - "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200868 +
http://nanbyodata.jp/ontology/NANDO_2201227 (rdf:type owl:Class @@ -152644,72 +213353,67 @@

hasNotificationNumber48
- dcterms:description - "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber128
dcterms:identifier2200868NANDO:2201227
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_050_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_094_01.pdf
rdfs:label - "Congenital fiber-type disproportion myopathy" + "neonatal multiple sulfatase deficiency" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡" + "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2697http://nanbyodata.jp/ontology/NANDO_1200084
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_050/https://www.shouman.jp/disease/details/08_06_094/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100234
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009711http://nanbyodata.jp/ontology/NANDO_2200566
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡" + "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200869 +
http://nanbyodata.jp/ontology/NANDO_2201228 (rdf:type owl:Class @@ -152717,72 +213421,77 @@

hasNotificationNumber50
- dcterms:description - "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber128
dcterms:identifier2200869NANDO:2201228
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_051_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_094_01.pdf
rdfs:label - "nemaline myopathy" + "Late-infantile multiple sulfatase deficiency" @en
rdfs:label - "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00698http://nanbyodata.jp/ontology/NANDO_1200085
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_051/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3071
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_094/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100234http://nanbyodata.jp/ontology/NANDO_2200566
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018958http://purl.obolibrary.org/obo/MONDO_0010088
skos:prefLabel - "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใซใ‚…ใ†ใ˜ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200870 +
http://nanbyodata.jp/ontology/NANDO_2201229 (rdf:type owl:Class @@ -152790,77 +213499,79 @@

hasNotificationNumber49
- dcterms:description - "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber127
dcterms:identifier2200870NANDO:2201229
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_052_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_097_01.pdf
rdfs:label - "central core disease" + "Classic infantile Pompe disease" @en
rdfs:label - "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=262 + rdfs:label + "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00699http://nanbyodata.jp/ontology/NANDO_1200139
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_052/https://www.shouman.jp/disease/details/08_06_097/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100234http://nanbyodata.jp/ontology/NANDO_2200569
+ skos:altLabel + "ไนณๅ…ๅž‹Pompe็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007294http://purl.obolibrary.org/obo/MONDO_0017694
skos:prefLabel - "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…" + "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - - + +
http://nanbyodata.jp/ontology/nando#2200871 +
http://nanbyodata.jp/ontology/NANDO_2201230 (rdf:type owl:Class @@ -152868,67 +213579,74 @@

hasNotificationNumber51
- dcterms:description - "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber127
dcterms:identifier2200871NANDO:2201230
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_053_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_097_01.pdf
rdfs:label - "multicore disease" + "Childhood-onset Pompe disease" @en
rdfs:label - "ใƒžใƒซใƒใ‚ณใ‚ข็—…" + "ใ—ใ‚‡ใ†ใซใŒใŸใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_053/http://nanbyodata.jp/ontology/NANDO_1200140
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_097/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100234http://nanbyodata.jp/ontology/NANDO_2200569
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018948 + skos:altLabel + "ๅฐๅ…ๅž‹Pompe็—…" + @ja
skos:prefLabel - "ใƒžใƒซใƒใ‚ณใ‚ข็—…" + "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200872 +
http://nanbyodata.jp/ontology/NANDO_2201231 (rdf:type owl:Class @@ -152936,62 +213654,74 @@

hasNotificationNumber53
- dcterms:description - "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber127
dcterms:identifier2200872NANDO:2201231
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_054_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_097_01.pdf
rdfs:label - "mini core disease" + "Adult-onset Pompe disease" @en
rdfs:label - "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹ใƒใƒณใƒš็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_054/http://nanbyodata.jp/ontology/NANDO_1200141
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_097/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100234http://nanbyodata.jp/ontology/NANDO_2200569
+ skos:altLabel + "ๆˆไบบๅž‹Pompe็—…" + @ja
skos:prefLabel - "ใƒŸใƒ‹ใ‚ณใ‚ข็—…" + "ๆˆไบบๅž‹ใƒใƒณใƒš็—…" @ja
- - + - - - - - - + + - + - + + "Wolman disease" + @en + "ใ†ใ‰ใ‚‹ใพใ‚“ใณใ‚‡ใ†" + @ja-Hira + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200873 +
http://nanbyodata.jp/ontology/NANDO_2201232 (rdf:type owl:Class @@ -152999,62 +213729,79 @@

hasNotificationNumber54
- dcterms:description - "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber117
dcterms:identifier2200873NANDO:2201232
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_098_01.pdf
rdfs:label - "46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" - @ja
rdfs:label - "other congenital structural myopathy" - @en
+ rdfs:label + "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_055/http://nanbyodata.jp/ontology/NANDO_1200143
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_098/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100234http://nanbyodata.jp/ontology/NANDO_2200570
+ skos:altLabel + "Wolman็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019148
skos:prefLabel - "46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200874 +
http://nanbyodata.jp/ontology/NANDO_2201233 (rdf:type owl:Class @@ -153062,62 +213809,79 @@

hasNotificationNumber54hasNotificationNumber117
dcterms:identifier2200874NANDO:2201233
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_098_01.pdf
rdfs:label - "Congenital Neuromuscular Disease with Uniform Type 1 Fiber" + "Cholesterol ester storage disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใˆใ™ใฆใ‚‹ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_055/http://nanbyodata.jp/ontology/NANDO_1200144
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_098/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200873http://nanbyodata.jp/ontology/NANDO_2200570
skos:altLabel - "CNMDU1 " + "CESD" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019149
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200875 +
http://nanbyodata.jp/ontology/NANDO_2201234 (rdf:type owl:Class @@ -153125,60 +213889,84 @@

hasNotificationNumber54hasNotificationNumber121
dcterms:identifier2200875NANDO:2201234
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_20_055_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_099_01.pdf
rdfs:label - "reducing body myopathy" + "Nephropathic cystinosis" @en
rdfs:label - "้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "ใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_20_055/http://nanbyodata.jp/ontology/NANDO_1200162
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_099/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200873http://nanbyodata.jp/ontology/NANDO_2200571
+ skos:altLabel + "Infantile nephropathic cystinosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019948http://purl.obolibrary.org/obo/MONDO_0018467
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0100151
skos:prefLabel - "้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ" + "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + "Juvenile cystinosis" + @en + + + + - +
http://nanbyodata.jp/ontology/nando#2200876 +
http://nanbyodata.jp/ontology/NANDO_2201235 (rdf:type owl:Class @@ -153186,84 +213974,91 @@

hasNotificationNumber22
- dcterms:description - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พคใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจๅ…ฑใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚" - @jahasNotificationNumber121
dcterms:identifier2200876NANDO:2201235
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_21_056_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_099_01.pdf
rdfs:label - "Schwartz-Jampel syndrome" + "Intermediate cystinosis" @en
rdfs:label - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2703http://nanbyodata.jp/ontology/NANDO_1200163
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01777http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2046
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_21_056/https://www.shouman.jp/disease/details/08_06_099/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100235http://nanbyodata.jp/ontology/NANDO_2200571
skos:altLabel - "Schwartz-Jampel็—‡ๅ€™็พค" - @ja
+ skos:altLabel + "Juvenile nephropathic cystinosis" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009717http://purl.obolibrary.org/obo/MONDO_0009066
skos:prefLabel - "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค" + "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200877 +
http://nanbyodata.jp/ontology/NANDO_2201236 (rdf:type owl:Class @@ -153271,74 +214066,91 @@

hasNotificationNumber61
- dcterms:description - "ไนณๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚Šใ€ๅ…ฅๆตดใ‚„็™บ็†ฑใง่ช˜็™บใ•ใ‚Œใ‚„ใ™ใ„็„ฆ็‚นๆ€งใ€็‰‡ๅดๆ€งใ‚‚ใ—ใใฏๅ…จ่ˆฌๆ€งใฎ้–“ไปฃๆ€งใ‘ใ„ใ‚Œใ‚“็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€้‡็ฉใƒป็พค็™บๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚1ๆญณ้ ƒใ‚ˆใ‚Šใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใฎใฟใชใ‚‰ใšใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใŒๅ‡บ็พใ—ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใ‚‚ๅœๆปžใ™ใ‚‹ใ€‚ใพใŸไธ€้ƒจใฎไพ‹ใงใฏๅ…‰ใƒปๅ›ณๅฝข้Žๆ•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่ˆฌๆ€งใ‚„็‰‡ๅดๆ€งใฎใ‘ใ„ใ‚Œใ‚“็™บไฝœใจ่ค‡้›‘้ƒจๅˆ†็™บไฝœใฎใฟๅ‘ˆใ—ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ‚’ไฝตๅญ˜ใ—ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ70-80๏ผ…ใฎ็—‡ไพ‹ใงใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ้บไผๅญSCN1Aใฎใƒ˜ใƒ†ใƒญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏๅญฆ็ซฅๆœŸไปฅ้™ใซ่ปฝๆธ›ๅ‚พๅ‘ใจใชใ‚‹ใŒใ€ๅคฑ่ชฟใ‚„ไธๅ™จ็”จ๏ผŒๅคšๅ‹•๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚„่‡ช้–‰ๆ€ง้šœๅฎณใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็”Ÿ็Ž‡ใฏ2๏ฝž4ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚1989ๅนดใฎๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใงใฏๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใจ้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใฎไธก่€…ใฎ็‰นๅพดใ‚’ไฝตๆœ‰ใ™ใ‚‹ๆœชๆฑบๅฎšใฆใ‚“ใ‹ใ‚“ใซใ€2010ๅนดๅˆ†้กž่ฉฆๆกˆใงใฏไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใซๅซใพใ‚Œใ‚‹ใ€‚ใ‹ใฃใฆใฏไนณๅ…ๆœŸ็™บ็—‡ใงใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚ˆใ‚Šไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจๅ‘ผใฐใ‚ŒใŸใŒใ€ๅฟ…ใšใ—ใ‚‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†็—‡ไพ‹ใฐใ‹ใ‚Šใงใฏใชใ„ใ“ใจใ€ไนณๅ…ๆœŸ็™บ็—‡ใงใฏใ‚ใ‚‹ใŒๆˆไบบๆœŸใพใง็ถšใ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚‹ใ“ใจใ‚ˆใ‚Šใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ๅ€™็พคใ‚’ๆๅ”ฑใ—ใŸDravet ใฎๅใซๅ› ใ‚“ใงDravet็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber121
dcterms:identifier2200877NANDO:2201236
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_22_057_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_099_01.pdf
rdfs:label - "Severe myoclonic epilepsy in infancy" + "Non-nephropathic cystinosis " @en
rdfs:label - "ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“" + "ใฒใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_22_057/http://nanbyodata.jp/ontology/NANDO_1200164
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2044
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_099/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100236http://nanbyodata.jp/ontology/NANDO_2200571
skos:altLabel - "Dravet syndrome" + "ocular cystinosis " @en
+ skos:altLabel + "็œผๅž‹ใ‚ทใ‚นใƒใƒณ็—…" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011794http://purl.obolibrary.org/obo/MONDO_0009064
skos:prefLabel - "ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“" + "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200878 +
http://nanbyodata.jp/ontology/NANDO_2201237 (rdf:type owl:Class @@ -153346,159 +214158,171 @@

hasNotificationNumber60
- dcterms:description - "ๆฌง็ฑณใงใฏinfantile spasmsใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใใฎๆˆๅ› ใฏๅคšๅฝฉใงใ‚ใ‚Šใ€ๅ‡บ็”Ÿๅ‰็”ฑๆฅใฎ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใ‹ใ‚‰ๅพŒๅคฉ็š„ใชๆ€ฅๆ€ง่„ณ็‚ŽๅพŒ้บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅ‰ใฎ็™บ้”ใฏใ€้‡ๅบฆใฎ้…ใ‚ŒใŒใ‚ใ‚‹ๅ ดๅˆใ‹ใ‚‰ๆญฃๅธธ็™บ้”ใพใงใ‚ใ‚‹ใ€‚ๅฅฝ็™บๅนด้ฝขใฏ1ๆญณไปฅไธ‹ใงใ€2ๆญณไปฅไธŠใฏ็จ€ใงใ‚ใ‚‹ใ€‚ใใฎ็™บไฝœใฏ็‰น็•ฐใงใ‚ใ‚Šใ€ๅบงไฝใ‚„็ซ‹ไฝใงใฏ้ ญ้ƒจใ‚’ไธ€็žฌๅž‚ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๆœฌใงใฏ็‚น้ ญใฆใ‚“ใ‹ใ‚“็™บไฝœใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใซๅˆ†้กžใ•ใ‚ŒใŸใ‚Šใ€ๅผท็›ด็™บไฝœใซ่ฟ‘ใ„ใจใ„ใ†ใ“ใจใงๅผท็›ดใ‚นใƒ‘ใ‚นใƒ ใ‚นใจๅ‘ผใฐใ‚ŒใŸใ‚Šใ—ใŸๆ™‚ๆœŸใ‚‚ใ‚ใฃใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็‹ฌ็ซ‹ใ—ใŸ็™บไฝœๅž‹ๆฆ‚ๅฟตใจใ—ใฆใ€Œใฆใ‚“ใ‹ใ‚“ๆ€งใ‚นใƒ‘ใ‚นใƒ ใ‚น๏ผˆEpileptic spasms: ES๏ผ‰ใ€ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็™บไฝœใฏๅ˜็‹ฌใงใ‚‚ๅ‡บ็พใ™ใ‚‹ใŒใ€ๅคšใใฏใ€Œใ‚ทใƒชใƒผใ‚บๅฝขๆˆใ€ใจ็งฐใ•ใ‚Œใ‚‹ๆง˜ใซๅ‘จๆœŸๆ€ง๏ผˆ5-10็ง’ๆฏŽ๏ผ‰ใซๅ‡บ็พใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚่„ณๆณขๆ‰€่ฆ‹ใ‚‚็‰นๅพด็š„ใงใ€Gibbsใ‚‰ใซใ‚ˆใ‚Šใ€Œใƒ’ใƒ—ใ‚นใ‚ขใƒชใ‚นใƒŸใ‚ขใ€ใจๅ‘ฝๅใ•ใ‚ŒใŸ็„ก็งฉๅบใช้ซ˜ๆŒฏๅน…ๅพๆณขใจๆฃ˜ๆณขใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹็‰น็•ฐใช็™บไฝœ้–“ๆฌ ๆœŸ่„ณๆณขใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ฆš้†’ๆ™‚ใ€็ก็œ ๆ™‚ใ‚’ๅ•ใ‚ใšใปใผ้€ฃ็ถšใ—ใฆ้ซ˜ๅบฆใฎๅ…จ่ˆฌๆ€ง็•ฐๅธธๆณขใŒๅ‡บ็พใ—ใ€West็—‡ๅ€™็พคใŒๅฑžใ™ใ‚‹ใ€Œใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€ใฎๆฆ‚ๅฟตใฎไธญๆ ธใ‚’ๆˆใ™ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚็™บไฝœไบˆๅพŒใ€็Ÿฅ็š„ไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใ€ๆ€ฅ้€Ÿใช็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎๅœๆญขใ‚„้€€่กŒใฏไธๅฏ้€†ๆ€งใฎๅ ดๅˆใŒๅคšใ„ใ€‚ๆฒป็™‚ๆณ•ใซใฏ้™็•ŒใŒใ‚ใ‚‹ใŒใ€ใƒใ‚คใ‚ฌใƒใƒˆใƒชใƒณใ‚„ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocorticotropic hormone: ACTH)็™‚ๆณ•ใŒๆœฌ็—‡ๅ€™็พคๆฒป็™‚ใฎไธปๆตใ‚’ๆˆใ—ใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber138
dcterms:identifier2200878NANDO:2201237
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_22_058_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_100_01.pdf
rdfs:label - "West syndrome" + "Infantile free sialic acid storage disease" @en
rdfs:label - "็‚น้ ญใฆใ‚“ใ‹ใ‚“" + "ใซใ‚…ใ†ใ˜ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_22_058/http://nanbyodata.jp/ontology/NANDO_1200147
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3009
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_06_100/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100236http://nanbyodata.jp/ontology/NANDO_2200572
skos:altLabel - "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค" + "ISSD" + @en
+ skos:altLabel + "ๆœ€้‡็—‡ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018097http://purl.obolibrary.org/obo/MONDO_0010027
skos:prefLabel - "็‚น้ ญใฆใ‚“ใ‹ใ‚“" + "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
- - + - - - - + - - + + - + - + + "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200879 +
http://nanbyodata.jp/ontology/NANDO_2201238 (rdf:type owl:Class ) -
hasNotificationNumber62
- dcterms:description - "2็จฎ้กžไปฅไธŠใฎ็Ÿญใ„ๅ…จ่ˆฌ็™บไฝœใจใ€่„ณๆณขใง3Hzใ‚ˆใ‚Š้…ใ„ๅบƒๆฑŽๆ€ง็ทฉๅพๆ€งๆฃ˜ๅพๆณขใจ็ก็œ ๆ™‚ใฎๅ…จ่ˆฌๆ€ง้€Ÿๆณขๅพ‹ๅ‹•๏ผˆrapid rhythmใ€ๅ›ฝ้š›็š„ใซใฏburst of fast rhythm generalized paroxysmal fast activity๏ผ‰ใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€็™บไฝœใฏๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚Š๏ผˆ้•ทๆœŸใฎ็™บไฝœๆŠ‘ๅˆถใฏ็ด„5%๏ผ‰ใ€็Ÿฅ็š„้šœๅฎณใŒใปใผ100๏ผ…ใจใชใ‚‹ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃๅ๏ผˆILAE๏ผ‰ใฎ1989ๅนดๅˆ†้กžใงใฏใ€ๆฝœๅ› ๆ€งใพใŸใฏ็—‡ๅ€™ๆ€งๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใŠใ‚‚ใซๅนผๅ…ๆœŸ๏ผˆ1๏ฝž8ๆญณใ€ใƒ”ใƒผใ‚ฏใฏ3๏ฝž5ๆญณ๏ผ‰ใซ็™บ็—‡ใ‚ใ‚‹ใ„ใฏไป–ใฎใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค๏ผˆ็‰นใซWest็—‡ๅ€™็พค๏ผ‰ใ‹ใ‚‰ๅค‰ๅฎนใ™ใ‚‹ใ€‚2ๆญณไปฅๅ‰ใฎ็™บ็—‡ใ‚‚20๏ผ…ใฏใ‚ใ‚‹ใŒใ€10ๆญณไปฅ้™ใฎ็™บ็—‡ใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใซ50๏ฝž75๏ผ…ใฎไพ‹ใงใ‘ใ„ใ‚Œใ‚“ๆ€งใ‚ใ‚‹ใ„ใฏ้žใ‘ใ„ใ‚Œใ‚“ๆ€งใฎใฆใ‚“ใ‹ใ‚“้‡็ฉใ‚’็ตŒ้จ“ใ—ใ€ใ—ใฐใ—ใฐ็ฒพ็ฅž้‹ๅ‹•้€€่กŒใ‚’็คบใ™ใ€‚" - @jahasNotificationNumber138
dcterms:identifier2200879NANDO:2201238
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_22_059_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_100_01.pdf
rdfs:label - "Lennox-Gastaut syndrome" + "Intermediate severe Salla disease" @en
rdfs:label - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4447 + rdfs:label + "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01813http://nanbyodata.jp/ontology/NANDO_1200148
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_22_059/https://www.shouman.jp/disease/details/08_06_100/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100236http://nanbyodata.jp/ontology/NANDO_2200572
skos:altLabel - "Lennox-Gastaut็—‡ๅ€™็พค" + "้‡็—‡Salla็—…" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016532http://purl.obolibrary.org/obo/MONDO_0017737
skos:prefLabel - "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค" + "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" @ja
- - + - - - - - - + + - + - + - - - - - - - - - - - - + "ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“" + @ja-Hira - + - - + +
http://nanbyodata.jp/ontology/nando#2200880 +
http://nanbyodata.jp/ontology/NANDO_2201239 (rdf:type owl:Class @@ -153506,79 +214330,57 @@

hasNotificationNumber29
- dcterms:description - "Unverricht-Lundborg็—…ใฏใ‚ทใ‚นใ‚ฟใƒใƒณB๏ผˆCSTB๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฎไธ€็—…ๅž‹ใงใ‚ใ‚‹ใ€‚ๅญฆ้ฝขๆœŸ๏ผˆ6ใ€œ15ๆญณ้ ƒ๏ผ‰ใซ็™บ็—‡ใ—ใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น็™บไฝœใ€ๅฐ่„ณๅคฑ่ชฟ็—‡็Šถใ€่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚็™บไฝœใฏ่บซไฝ“ๆดปๅ‹•ใ€็ฒพ็ฅž็š„ใ‚นใƒˆใƒฌใ‚นใ€ๅ…‰ๅˆบๆฟ€ใชใฉใซใ‚ˆใฃใฆ่ช˜็™บใ•ใ‚Œใ€็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใซใ‚ˆใ‚Š5ใ€œ10ๅนดใงๆญฉ่กŒๅ›ฐ้›ฃใจใชใ‚‹ใจใ•ใ‚ŒใฆใใŸใŒใ€่ฟ‘ๅนด่–ฌ็‰ฉ็™‚ๆณ•ใฎ้€ฒๆญฉใชใฉใซใ‚ˆใ‚Šๆญฉ่กŒไบˆๅพŒใŒๆ”นๅ–„ใ—ใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber138
dcterms:identifier2200880NANDO:2201239
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_23_060_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_100_01.pdf
rdfs:label - "Unverricht-Lundborg disease" + "Skeletal dysplasias" @en
rdfs:label - "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2684
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_23_060/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100237
- skos:altLabel + rdfs:label - "Unverricht-Lundborg็—…" + "้ชจ็ณป็ตฑ็–พๆ‚ฃ" @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009698 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200572
skos:prefLabel - "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—…" + "้ชจ็ณป็ตฑ็–พๆ‚ฃ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200881 +
http://nanbyodata.jp/ontology/NANDO_2201240 (rdf:type owl:Class @@ -153586,84 +214388,77 @@

hasNotificationNumber30
- dcterms:description - "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonic epilepsy๏ผšPME๏ผ‰ใฎๅŽŸๅ› ็–พๆ‚ฃใฎไธ€ใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™้€ฒ่กŒๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใ€‚็ฅž็ตŒ็ดฐ่ƒžใ‚„ๅฟƒ็ญ‹็ดฐ่ƒžใซperiodic acid Schiff๏ผˆPAS๏ผ‰ๆŸ“่‰ฒ้™ฝๆ€งใฎๅ‡้›†ไฝ“ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฅๅ‰ใฏ็šฎ่†šใ‚„็ฅž็ตŒ็”Ÿๆคœใงใƒฉใƒ•ใ‚ฉใƒฉ๏ผˆLafora๏ผ‰ๅฐไฝ“ใ‚’่จผๆ˜Žใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚่ฟ‘ๅนดใ€ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œไธ€้ƒจใฎๅฐ‚้–€ๆ–ฝ่จญใงใฏ้บไผๅญ่จบๆ–ญใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber122
dcterms:identifier2200881NANDO:2201240
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_23_061_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label - "Lafora disease" + "Congenital neuronal ceroid lipofuscinosis" @en
rdfs:label - "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" + "ใ›ใ‚“ใฆใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2683http://nanbyodata.jp/ontology/NANDO_1200151
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01994http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1933
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_23_061/https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100237
- skos:altLabel - "Lafora็—…" - @jahttp://nanbyodata.jp/ontology/NANDO_2200573
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009697http://purl.obolibrary.org/obo/MONDO_0008956
skos:prefLabel - "ใƒฉใƒ•ใ‚ฉใƒฉ็—…" + "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - - + + - - + + - + - +
http://nanbyodata.jp/ontology/nando#2200882 +
http://nanbyodata.jp/ontology/NANDO_2201241 (rdf:type owl:Class @@ -153671,99 +214466,103 @@

hasNotificationNumber36
- dcterms:description - "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ ่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ€ไฝ•ใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒใ‚ใ ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใค็‰ฉ๏ผˆ้ž็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber122
dcterms:identifier2200882NANDO:2201241
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_24_062_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label - "spinocerebellar degeneration" + "Infantile neuronal ceroid lipofuscinosis" @en
rdfs:label - "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + "ใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=344http://nanbyodata.jp/ontology/NANDO_1200152
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01616http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2731
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_24_062/https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100238http://nanbyodata.jp/ontology/NANDO_2200573
skos:altLabel - "SCD" + "CLN1" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000359 + skos:altLabel + "INCL" + @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000437 + skos:altLabel + "Infantile Batten disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007374http://purl.obolibrary.org/obo/MONDO_0009744
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018484http://purl.obolibrary.org/obo/MONDO_0019261
skos:prefLabel - "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡" + "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200883 +
http://nanbyodata.jp/ontology/NANDO_2201242 (rdf:type owl:Class @@ -153771,89 +214570,103 @@

hasNotificationNumber23
- dcterms:description - "ไนณๅ…ๆœŸใ‹ใ‚‰ๅนผๅ…ๆœŸๅˆใ‚ใพใงใซ็™บ็—‡ใ™ใ‚‹ๅทฆๅณไธๅฎšใฎไธ€้Žๆ€ง้บป็—บ็—‡็Šถใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚็Ÿฅ็š„้šœๅฎณใจ้‹ๅ‹•้šœๅฎณใ‚’ไผดใ†ใ€‚" - @jahasNotificationNumber122
dcterms:identifier2200883NANDO:2201242
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_25_063_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label - "alternating hemiplegia of childhood" + "Late infantile neuronal ceroid lipofuscinosis" @en
rdfs:label - "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + "ใกใฏใคใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3254http://nanbyodata.jp/ontology/NANDO_1200153
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00998http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1740
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_25_063/https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100239http://nanbyodata.jp/ontology/NANDO_2200573
skos:altLabel - "AHC" + "CLN2" + @en
+ skos:altLabel + "Jansky-Bielschowsky disease" + @en
+ skos:altLabel + "LINCL" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010264http://purl.obolibrary.org/obo/MONDO_0008769
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016241http://purl.obolibrary.org/obo/MONDO_0015674
skos:prefLabel - "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ" + "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200884 +
http://nanbyodata.jp/ontology/NANDO_2201243 (rdf:type owl:Class @@ -153861,82 +214674,100 @@

hasNotificationNumber77
- dcterms:description - "ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใฏใ€ๆŒ็ถšๆ€งใพใŸใฏๅๅพฉๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚‹็•ฐๅธธๅงฟๅ‹ขใ‚„ไธ้šๆ„้‹ๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹้‹ๅ‹•็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใƒผใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃ็พคใฎๅ†…ใงใ€่„ณใฎๅ™จ่ณช็š„็—…ๅค‰ใ‚„ๅค‰ๆ€งใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งใ‚ธใ‚นใƒˆใƒ‹ใƒผใจๅ‘ผใณใ€่ฟ‘ๅนดๆ•ฐๅคšใใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(DYTใ‚ทใƒชใƒผใ‚บ)ใ€‚ใ“ใ“ใงใฏDYTใ‚ทใƒชใƒผใ‚บใซๅซใพใ‚Œใ‚‹็–พๆ‚ฃ็พคใ‚’ใ€ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" - @jahasNotificationNumber122
dcterms:identifier2200884NANDO:2201243
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_26_064_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label - "dystonia musculorum deformans" + "Juvenile neuronal ceroid lipofuscinosis" @en
rdfs:label - "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" + "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=476http://nanbyodata.jp/ontology/NANDO_1200154
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_26_064/https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100240http://nanbyodata.jp/ontology/NANDO_2200573
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0000476 + skos:altLabel + "Batten disease" + @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007492 + skos:altLabel + "CLN3" + @en
+ skos:altLabel + "JNCL" + @en
+ skos:altLabel + "Spielmeyer-Vogt-Sjogren disease" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044811http://purl.obolibrary.org/obo/MONDO_0019262
skos:prefLabel - "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ" + "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200885 +
http://nanbyodata.jp/ontology/NANDO_2201244 (rdf:type owl:Class @@ -153944,100 +214775,100 @@

hasNotificationNumber76
- dcterms:description - "็€ฌๅท็—…ใฏ1971ๅนดใซ็€ฌๅทใ‚‰1)ใŒใ€ใ€Œ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€งๅคง่„ณๅŸบๅบ•ๆ ธ็–พๆ‚ฃใ€ใจใ—ใฆไธ–็•Œใงใฏใ˜ใ‚ใฆๅฐๅ…ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใ€‚ 1990ๅนดใซ่—ค็”ฐใƒปๆ–ฐๅฎ…2)ใซใ‚ˆใ‚Š็€ฌๅท็—…ๆ‚ฃ่€…ใฎ้ซ„ๆถฒไธญใƒ—ใƒ†ใƒชใ‚ธใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ GTPใ‚ทใ‚ฏใƒญใ‚ทใƒ‰ใƒญใƒฉใƒผใ‚ผโ… ๏ผˆGTPCH๏ผ‰ๆดปๆ€งใฎไฝŽไธ‹ใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใŸใŒใ€1994ๅนดใซไธ€็€ฌใ‚‰3)ใซใ‚ˆใ‚Š ็€ฌๅท็—…ๆ‚ฃ่€…ใงGTPCH้บไผๅญ๏ผˆGCH1๏ผ‰ใฎๅค‰็•ฐใŒ็‰‡ๆ–นใฎใ‚ขใƒชใƒซใซ็™บ่ฆ‹ใ•ใ‚Œใ€GTPCHใฎ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใ—ใฆDYT5ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€็—…ๅ› ใฏ่ฃœ้…ต็ด ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅˆๆˆ้šœๅฎณใซใ‚ˆใ‚‹็ฅž็ตŒไผ้”็‰ฉ่ณช็—…ใงใ‚ใ‚Šใ€ ็พๅœจใงใฏๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็ฌฌ14ๆŸ“่‰ฒไฝ“๏ผˆ14q22.1-22.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹GCH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ ้ป’่ณช็ทšๆกไฝ“ใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ณป็ต‚ๆœซ้ƒจใฎใƒ‰ใƒ‘ใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹ๅ›บ็ธฎๅž‹็ญ‹็ทŠๅผต็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขๅงฟๅ‹ขใŠใ‚ˆใณใ‚ธใ‚นใƒˆใƒ‹ใ‚ข้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ ๅ…ธๅž‹ไพ‹ใฏ10ๆญณไปฅไธ‹ใซ็™บ็—‡ใ™ใ‚‹ใŒๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฅณๆ€งๅ„ชไฝใฎๆ€งๅทฎใ‚’ๆœ‰ใ™ใ‚‹๏ผˆ็”ท๏ผšๅฅณ๏ผ1๏ผš4๏ผ‰ใ€‚ ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใจใใซๅฐๅ…ๆœŸใฎๅงฟๅ‹ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚" - @jahasNotificationNumber122
dcterms:identifier2200885NANDO:2201244
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_26_065_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label - "Segeawa syndrome" + "Adult neuronal ceroid lipofuscinosis" @en
rdfs:label - "็€ฌๅท็—…" + "ใ›ใ„ใ˜ใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=479http://nanbyodata.jp/ontology/NANDO_1200155
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_26_065/https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100240http://nanbyodata.jp/ontology/NANDO_2200573
skos:altLabel - "DRD" + "ANCL" @en
skos:altLabel - "Dopamine-responsive dystonia" + "CLN4" @en
skos:altLabel - "HPD" + "Kufs disease" @en
skos:altLabel - "Hereditary progressive dystonia with diurnal variation" + "Kufs' disease" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007495http://purl.obolibrary.org/obo/MONDO_0019260
skos:prefLabel - "็€ฌๅท็—…" + "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + - - - - + "ใฒใฆใ„ใ‘ใ„ใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200886 +
http://nanbyodata.jp/ontology/NANDO_2201245 (rdf:type owl:Class @@ -154045,84 +214876,62 @@

hasNotificationNumber75
- dcterms:description - "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ2 ๏ผˆPANK2๏ผ‰ ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ๏ผˆNeurodegeneration with brain iron accumulation; NBIA๏ผ‰ใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber122
dcterms:identifier2200886NANDO:2201245
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_27_066_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label - "Pantothenate kinase-associated neurodegeneration" + "Atypical neuronal ceroid lipofuscinosis" @en
rdfs:label - "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2308
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02208 + rdfs:label + "้žๅฎšๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_27_066/https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100241
- skos:altLabel - "PKAN" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009319http://nanbyodata.jp/ontology/NANDO_2200573
skos:prefLabel - "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡" + "้žๅฎšๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200887 +
http://nanbyodata.jp/ontology/NANDO_2201246 (rdf:type owl:Class @@ -154130,84 +214939,74 @@

hasNotificationNumber74
- dcterms:description - "็ฌฌ22็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚‹Phospholipase A2, group VI (PLA2G6) ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณๅ†…้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡ (neurodegeneration with brain iron accumulation; NBIA)ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier2200887NANDO:2201246
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_27_067_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "infantile neuroaxonal dystrophy" + "Childhood cerebral adrenoleukodystrophy" @en
rdfs:label - "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ใ—ใ‚‡ใ†ใซใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2726http://nanbyodata.jp/ontology/NANDO_1200166
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_27_067/https://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100241http://nanbyodata.jp/ontology/NANDO_2200576
skos:altLabel - "INAD" + "CCALD" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009739
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0024457
skos:prefLabel - "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - - - -
http://nanbyodata.jp/ontology/nando#2200888 +
http://nanbyodata.jp/ontology/NANDO_2201247 (rdf:type owl:Class @@ -154215,84 +215014,74 @@

hasNotificationNumber64
- dcterms:description - "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ€้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ไธปใจใ™ใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’็”Ÿใ˜ใ€ไธกๅด็ทšๆกไฝ“ใฎๅค‰ๆ€งใƒปๅฃŠๆญปใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ใ‚ฆใ‚คใƒซใ‚นใ‚„ใƒžใ‚คใ‚ณใƒ—ใƒฉใ‚บใƒžใฎๆ„ŸๆŸ“ใซไผดใ„ๆ€ฅๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใจใ€้บไผๆ€ง็–พๆ‚ฃใซๅŸบใฅใไบœๆ€ฅๆ€งใชใ„ใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใŒใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏๅฐๅ…ๆ…ขๆ€ง็–พๆ‚ฃใฎๅฏพ่ฑกใจใชใ‚‹ๅพŒ่€…ใซใคใ„ใฆ่ฟฐในใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier2200888NANDO:2201247
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_28_068_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "infantile bilateral striatal necrosis" + "Adolescent cerebral adrenoleukodystrophy" @en
rdfs:label - "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" + "ใ—ใ—ใ‚…ใ‚“ใใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3063http://nanbyodata.jp/ontology/NANDO_1200167
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_28_068/https://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100242http://nanbyodata.jp/ontology/NANDO_2200576
skos:altLabel - "IBSN" + "AdolCALD" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010080
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015518
skos:prefLabel - "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป" + "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200889 +
http://nanbyodata.jp/ontology/NANDO_2201248 (rdf:type owl:Class @@ -154300,67 +215089,93 @@

hasNotificationNumber44
- dcterms:description - "ๆ–ฐ็”Ÿๅ…ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผˆherpes simplex virus๏ผšHSV๏ผ‰ๆ„ŸๆŸ“็—‡ใฏใ€ๅˆ†ๅจฉๅ‰ๅพŒใฎHSVใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใ€‚ๆฐด็–ฑใชใฉใฎ็šฎ่†š็—…ๅค‰ใ€็œผ็ƒใƒปๅฃ่…”็ฒ˜่†œ็—…ๅค‰ใซๅŠ ใˆใฆใ€็—…ๅž‹ใซใ‚ˆใฃใฆใฏ่„ณ็‚Žใ€่‚้šœๅฎณใชใฉใฎ่‡“ๅ™จ็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใ‚ฆใ‚คใƒซใ‚นๅŸน้คŠใ€HSV้บไผๅญๅŒๅฎšใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚้ซ˜็”จ้‡ใฎใ‚ขใ‚ทใ‚ฏใƒญใƒ“ใƒซ้™ๆณจ็™‚ๆณ•ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่‡ดๆญป็Ž‡ใ€็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡็Ž‡ใจใ‚‚้ซ˜ใ„ใ€‚" - @jahasNotificationNumber82
dcterms:identifier2200889NANDO:2201248
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_29_069_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "Congenital herpes simplex virus infection" + "Adrenomyeloneuropathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "ใตใใ˜ใ‚“ใ›ใใšใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_29_069/http://nanbyodata.jp/ontology/NANDO_1200168
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100243http://nanbyodata.jp/ontology/NANDO_2200576
+ skos:altLabel + "AMN" + @en
+ skos:altLabel + "Adrenoleukodystrophy" + @en
+ skos:altLabel + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017381http://purl.obolibrary.org/obo/MONDO_0015339
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - - + + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200890 +
http://nanbyodata.jp/ontology/NANDO_2201249 (rdf:type owl:Class @@ -154368,72 +215183,74 @@

hasNotificationNumber43
- dcterms:description - "้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ—ๅ…็–ซใฎใชใ„ๅฅณๆ€งใŒๅฆŠๅจ ๅˆๆœŸใซ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๆ„ŸๆŸ“ใ—ใ€ใ‚ฆใ‚คใƒซใ‚นใŒ่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‡บ็”Ÿๅ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃ่ดใ€็™ฝๅ†…้šœใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใ‚’็ท็งฐใ—ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค๏ผˆcongenital rubella syndrome๏ผšCRS๏ผ‰ใจๅ‘ผใถใ€‚่‚่„พ็จฎใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็™บ่‚ฒ้šœๅฎณใชใฉใ‚‚็”Ÿใ˜ใ‚‹ใ€‚้ขจ็–นใฎๆต่กŒๆœŸใŒๆ˜ฅใ‹ใ‚‰ๅˆๅคใงใ‚ใ‚‹ใŸใ‚ใ€CRSๅ…ใฏ็ง‹ใ‹ใ‚‰ๅ†ฌใซ็”Ÿใพใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ„ŸๆŸ“็—‡ๆณ•๏ผˆ2012ๅนดๆ›ดๆ–ฐ๏ผ‰ใงใฏใ€CRSใฏๅ…จๆ•ฐๅ ฑๅ‘Šๅฏพ่ฑก๏ผˆ5้กžๆ„ŸๆŸ“็—‡๏ผ‰ใงใ‚ใ‚Šใ€ๅŒปๅธซใฏ่จบๆ–ญๅพŒ7ๆ—ฅไปฅๅ†…ใซไฟๅฅๆ‰€ใซๅฑŠใ‘ๅ‡บใชใ‘ใ‚Œใฐใชใ‚‰ใชใ„ใ€‚" - @jahasNotificationNumber82
dcterms:identifier2200890NANDO:2201249
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_29_070_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "congenital rubella syndrome" + "Adult cerebral adrenoleukodystrophy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค" + "ใ›ใ„ใ˜ใ‚“ใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_29_070/http://nanbyodata.jp/ontology/NANDO_1200169
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100243 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_104/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005713 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200576
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017361 + skos:altLabel + "ACALD" + @en
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค" + "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200891 +
http://nanbyodata.jp/ontology/NANDO_2201250 (rdf:type owl:Class @@ -154441,62 +215258,67 @@

hasNotificationNumber41
- dcterms:description - "ๅคšใใฏๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใŒๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŠนๆžœ็š„ใชๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใŠใ‚‰ใšใ€ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ้›ฃ่ดใ‚„็™บ้”้šœๅฎณใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier2200891NANDO:2201250
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_29_071_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "Congenital cytomegalovirus infection" + "Atypical X-linked adult adrenoleukodystrophy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "ใ—ใ‚‡ใ†ใฎใ†ใƒปใฎใ†ใ‹ใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_29_071/http://nanbyodata.jp/ontology/NANDO_1200170
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100243http://nanbyodata.jp/ontology/NANDO_2200576
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡" + "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200892 +
http://nanbyodata.jp/ontology/NANDO_2201251 (rdf:type owl:Class @@ -154504,67 +215326,72 @@

hasNotificationNumber42
- dcterms:description - "ๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ™ใงใซๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ€ ้ซ˜ใ„ๅŠนๆžœใ‚’ๆŒใกๅฎ‰ๅ…จใซๆŠ•ไธŽใงใใ‚‹่–ฌ็‰ฉๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ่ฆ–ๅŠ›้šœๅฎณใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier2200892NANDO:2201251
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_29_072_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "Congenital toxoplasmosis" + "Addison-only adrenoleukodystrophy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡" + "ใ‚ใ˜ใใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ" + @ja-Hira
+ rdfs:label + "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_29_072/http://nanbyodata.jp/ontology/NANDO_1200171
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100243http://nanbyodata.jp/ontology/NANDO_2200576
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005715http://purl.obolibrary.org/obo/MONDO_0018544
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡" + "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200893 +
http://nanbyodata.jp/ontology/NANDO_2201252 (rdf:type owl:Class @@ -154572,105 +215399,72 @@

hasNotificationNumber7
- dcterms:description - "Aicardi-Goutiรจres็—‡ๅ€™็พค๏ผˆAGS๏ผ‰ใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๅนผๅฐ‘ๆœŸใฎๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„็•ฐๅธธใ€่‚่„พ่…ซใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใ„ใฃใŸๅ…ˆๅคฉๆ„ŸๆŸ“็—‡๏ผˆTORCH็—‡ๅ€™็พค๏ผ‰้กžไผผใฎ็—…ๅƒใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๅคšใใฎๆ‚ฃ่€…ใงใฏๆญฃๅธธ็™บ้”ใฎๆœŸ้–“ใฎๅพŒใซ้ก•ๅœจๅŒ–ใ™ใ‚‹ใชใฉใ€ใใฎ็™บ็—‡ๆ™‚ๆœŸใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๆ˜“ๅˆบๆฟ€ๆ€งใ€้–“ๆฌ ็š„ใช็„ก่Œๆ€ง็™บ็†ฑใ€้ ญไฝๆˆ้•ทใฎไฝŽไธ‹ใ€็™บ้”้€€่กŒใชใฉใซ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€ไบœๆ€ฅๆ€ง็™บ็—‡ใฎ้‡็—‡่„ณ็—‡ใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚็ด„4ๅ‰ฒใฎๆ‚ฃ่€…ใงๆ‰‹ๆŒ‡ใ€่ถณ่ถพใ€่€ณใชใฉใซๅ‡็˜กๆง˜ใฎ็šฎ่†š็—…ๅค‰ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใงใฏใ‚ˆใ‚Š่ปฝ็—‡ใช้žๅ…ธๅž‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚็–พๆ‚ฃ่ƒŒๆ™ฏใจใ—ใฆ่‡ชๅทฑๅ…็–ซๆ€งๆฉŸๅบใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๆฌก็ฌฌใซAGS้–ข้€ฃ้บไผๅญ็พคใฎ็•ฐๅธธใฏ่‡จๅบŠ็š„ใซๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ้šœๅฎณใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber82
dcterms:identifier2200893NANDO:2201252
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "Aicardi-Goutieres syndrome" + "female adrenoleukodystrophy" @en
rdfs:label - "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใ˜ใ‚‡ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ—ใ‚ƒ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2151http://nanbyodata.jp/ontology/NANDO_1200172
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_30_073/https://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100244
- skos:altLabel - "AGS1" - @en
- skos:altLabel - "Aicardi-Goutieres็—‡ๅ€™็พค" - @ja
- skos:altLabel - "Aicardi-Goutiรจres syndrome" - @en
- skos:altLabel - "TREX1ๆฌ ๆ็—‡" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009165http://nanbyodata.jp/ontology/NANDO_2200576
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018866http://purl.obolibrary.org/obo/MONDO_0018544
skos:prefLabel - "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค" + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰" @ja
- - + - - + + - + - + + "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใฏใฃใ—ใ‚‡ใ†ใพใˆใ ใ‚“ใ›ใ„ใชใฉ๏ผ‰" + @ja-Hira - - + + - + - - - - - + - - - - + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใใฎไป–๏ผ‰" + @ja
http://nanbyodata.jp/ontology/nando#2200894 +
http://nanbyodata.jp/ontology/NANDO_2201253 (rdf:type owl:Class @@ -154678,79 +215472,69 @@

hasNotificationNumber7hasNotificationNumber82
dcterms:identifier2200894NANDO:2201253
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label - "Aicardi-Goutieres syndrome 2" + "pre-symptomatic male adrenoleukodystrophy" @en
rdfs:label - "RNASEH2Bๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6712 + rdfs:label + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ็™บ็—‡ๅ‰็”ทๆ€ง็ญ‰๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_30_073/https://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200893
- skos:altLabel - "AGS2" - @enhttp://nanbyodata.jp/ontology/NANDO_2200576
skos:altLabel - "Aicardi-Goutiรจres syndrome 2" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012429
skos:prefLabel - "RNASEH2Bๆฌ ๆ็—‡" + "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ็™บ็—‡ๅ‰็”ทๆ€ง็ญ‰๏ผ‰" @ja
- - + - - + + - + - + + "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„" + @ja-Hira - - + + - + - + + "FHใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“" + @ja - - + +
http://nanbyodata.jp/ontology/nando#2200895 +
http://nanbyodata.jp/ontology/NANDO_2201254 (rdf:type owl:Class @@ -154758,79 +215542,83 @@

hasNotificationNumber7hasNotificationNumber34
dcterms:identifier2200895NANDO:2201254
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_130_01.pdf
rdfs:label - "Aicardi-Goutieres syndrome 3" + "Heterozygous familial hypercholesterolemia" @en
rdfs:label - "RNASEH2Cๆฌ ๆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6753 + rdfs:label + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_30_073/https://www.shouman.jp/disease/details/08_12_130/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200893http://nanbyodata.jp/ontology/NANDO_2200602
skos:altLabel - "AGS3" - @en
skos:altLabel - "Aicardi-Goutiรจres syndrome 3" + "Heterozygous FH" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012471 + skos:altLabel + "Heterozygous familial hypercholesterolaemia" + @en
skos:prefLabel - "RNASEH2Cๆฌ ๆ็—‡" + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200896 +
http://nanbyodata.jp/ontology/NANDO_2201255 (rdf:type owl:Class @@ -154838,69 +215626,93 @@

hasNotificationNumber7hasNotificationNumber34
dcterms:identifier2200896NANDO:2201255
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_12_130_01.pdf
rdfs:label - "Aicardi-Goutieres syndrome 4a" + "Homozygous familial hypercholesterolemia" @en
rdfs:label - "RNASEH2Aๆฌ ๆ็—‡" + "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใปใ‚‚ใ›ใคใ”ใ†ใŸใ„" + @ja-Hira
+ rdfs:label + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_30_073/http://nanbyodata.jp/ontology/NANDO_1200394
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_12_130/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200893http://nanbyodata.jp/ontology/NANDO_2200602
skos:altLabel - "AGS4a" + "FHใƒ›ใƒขๆŽฅๅˆไฝ“" + @ja
+ skos:altLabel + "Homozygous FH" @en
skos:altLabel - "Aicardi-Goutiรจres syndrome 4a" + "Homozygous familial hypercholesterolaemia" @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018328
skos:prefLabel - "RNASEH2Aๆฌ ๆ็—‡" + "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“" @ja
- - + - - + + - + - + + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200897 +
http://nanbyodata.jp/ontology/NANDO_2201256 (rdf:type owl:Class @@ -154908,79 +215720,84 @@

hasNotificationNumber7hasNotificationNumber31
dcterms:identifier2200897NANDO:2201256
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "Aicardi-Goutieres syndrome 5" + "Ehlers-Danlos syndrome, classical type" @en
rdfs:label - "SAMHD1ๆฌ ๆ็—‡" + "ใ“ใฆใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7288http://nanbyodata.jp/ontology/NANDO_1200646
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_30_073/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=509
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200893 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_135/
- skos:altLabel - "AGS5" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200607
skos:altLabel - "Aicardi-Goutiรจres syndrome 5" + "classical EDS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013059http://purl.obolibrary.org/obo/MONDO_0007522
skos:prefLabel - "SAMHD1ๆฌ ๆ็—‡" + "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + "Ehlers-Danlos syndrome, hypermobility type" + @en + "ใ‹ใ‚“ใ›ใคใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira + + + + - + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200898 +
http://nanbyodata.jp/ontology/NANDO_2201257 (rdf:type owl:Class @@ -154988,79 +215805,84 @@

hasNotificationNumber7hasNotificationNumber31
dcterms:identifier2200898NANDO:2201257
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_30_073_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "ADAR1ๆฌ ๆ็—‡" - @ja
rdfs:label - "Aicardi-Goutieres syndrome 6" - @en
+ rdfs:label + "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8285http://nanbyodata.jp/ontology/NANDO_1200647
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_30_073/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=511
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200893 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_135/
- skos:altLabel - "AGS6" - @en + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200607
skos:altLabel - "Aicardi-Goutiรจres syndrome6" + "Hypermobile EDS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014007http://purl.obolibrary.org/obo/MONDO_0007523
skos:prefLabel - "ADAR1ๆฌ ๆ็—‡" + "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + "ใ‘ใฃใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - - + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200899 +
http://nanbyodata.jp/ontology/NANDO_2201258 (rdf:type owl:Class @@ -155068,84 +215890,79 @@

hasNotificationNumber1
- dcterms:description - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitisใ€€SSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใธใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ไบบใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡(progressive multifocal leukoencephalopathy PML)ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200899NANDO:2201258
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_31_074_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "subacute sclerosing panencephalitis" + "Ehlers-Danlos syndrome, vascular type" @en
rdfs:label - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2819 + rdfs:label + "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01696http://nanbyodata.jp/ontology/NANDO_1200648
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_31_074/https://www.shouman.jp/disease/details/08_13_135/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100245http://nanbyodata.jp/ontology/NANDO_2200607
skos:altLabel - "SSPE" + "Vascular EDS" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009835http://purl.obolibrary.org/obo/MONDO_0017314
skos:prefLabel - "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž" + "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "Kyphoscoliosis EDS" + @en - + + + + +
http://nanbyodata.jp/ontology/nando#2200900 +
http://nanbyodata.jp/ontology/NANDO_2201259 (rdf:type owl:Class @@ -155153,79 +215970,89 @@

hasNotificationNumber80
- dcterms:description - "Rasmussen๏ผˆใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผ‰็—‡ๅ€™็พคใฏใ€1958ๅนดใซRasmussenใ‚‰ใŒๆ…ขๆ€ง้™ๅฑ€ๆ€ง่„ณ็‚Žใฎ็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹้›ฃๆฒปๆ€ง็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“ใฎ2็—‡ไพ‹ใ‚’ๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ“ใจใซๅง‹ใพใ‚Šใ€ใใฎๅพŒใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“๏ผˆepilepsia partialis continua: EPC๏ผ‰ใ‚’ๅซใ‚€ไธ€ๅดๆ€งใฎ็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“็™บไฝœใ€็‰‡้บป็—บใชใฉใฎ้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช้šœๅฎณใ€้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช่Ž็ธฎใ€ๆ…ขๆ€ง่„ณ็‚Žๅƒใชใฉใ‚’่ชใ‚ใ‚‹็—‡ไพ‹็พคใจใ—ใฆ็ขบ็ซ‹ใ—ใŸใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃ็›Ÿใซใ‚ˆใ‚‹ใ€1989ๅนดๅˆ†้กžใงใฏใ€Œๅฐๅ…ใฎๆ…ขๆ€ง้€ฒ่กŒๆ€งๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ€ใจใ•ใ‚Œใฆใ„ใŸใŒใ€2010ๅนดๆ–ฐๅˆ†้กžๆกˆใงใฏใ€ŒRasmussen็—‡ๅ€™็พคใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200900NANDO:2201259
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_32_075_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "Rasmussen encephalitis" + "Ehlers-Danlos syndrome, kyphoscoliotic type" @en
rdfs:label - "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" + "ใ“ใ†ใใใ‚ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01812http://nanbyodata.jp/ontology/NANDO_1200649
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_32_075/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2145
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_135/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100246http://nanbyodata.jp/ontology/NANDO_2200607
skos:altLabel - "Rasmussen่„ณ็‚Ž" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016019http://purl.obolibrary.org/obo/MONDO_0016002
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0034024
skos:prefLabel - "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž" + "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200901 +
http://nanbyodata.jp/ontology/NANDO_2201260 (rdf:type owl:Class @@ -155233,81 +216060,84 @@

hasNotificationNumber18
- dcterms:description - "็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใฏใ€ๆ—ฅๆœฌใง1990ๅนดไปฃๅพŒๅŠใ‹ใ‚‰่ช่ญ˜ใ•ใ‚Œๅง‹ใ‚ใŸๆ–ฐใ—ใ„็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡(AEFSCE)ใ€๏ผˆๅกฉ่ฆ‹, 2000ๅนด๏ผ‰ใ€ใ€Œไธกๅดๅ‰้ ญ่‘‰ใ‚’ไธปใจใ—ใฆ้šœๅฎณใ™ใ‚‹ไนณๅนผๅ…ๆ€ฅๆ€ง่„ณ็—‡(AIEF)ใ€๏ผˆYamanouchiใ‚‰, 2006๏ผ‰ใ€ใ€ŒไบŒ็›ธๆ€งใ‘ใ„ใ‚Œใ‚“ใจ้…็™บๆ€งๆ‹กๆ•ฃไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใ€๏ผˆTakanashiใ‚‰, 2006๏ผ‰ใชใฉ่ค‡ๆ•ฐใฎ็•ฐใชใ‚‹็—…ๅใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€2015ๅนดใซใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใ€ใจใ—ใฆๆŒ‡ๅฎš้›ฃ็—…ใซ่ชๅฎšใ•ใ‚ŒใŸใ€‚็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซใ€็—™ๆ”ฃใจ่„ณใฎๅ‚ทๅฎณใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ€ๅฐๅ…ใฎๆ€ฅๆ€ง่„ณ็—‡ใฎใ†ใกๆ—ฅๆœฌใงใฏๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅž‹ใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸ๏ผˆ็™บ็—‡๏ฝž็—™ๆ”ฃๅๅพฉๆœŸ๏ผ‰ใ‹ใ‚‰ไบœๆ€ฅๆ€งๆœŸ๏ผˆๅ›žๅพฉๆœŸ๏ผ‰ใซใ‹ใ‘ใฆใ€ไบŒ็›ธๆ€งใฎ่‡จๅบŠ็ตŒ้Ž๏ผˆๅˆ็™บๆ™‚ใฎๆœ‰็†ฑๆ™‚็—™ๆ”ฃ้‡็ฉใจ็ฌฌ๏ผ“๏ฝž๏ผ–็—…ๆ—ฅใฎ็„ฆ็‚น็™บไฝœ็พค็™บ๏ผ‰ใŠใ‚ˆใณ้ ญ้ƒจMRIๆ‹กๆ•ฃๅผท่ชฟ็”ปๅƒ๏ผˆ็ฌฌ๏ผ“๏ฝž๏ผ™็—…ๆ—ฅใฎๅคง่„ณ็šฎ่ณชไธ‹็™ฝ่ณชใฎๆ‹กๆ•ฃไฝŽไธ‹๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใซๅ…ฅใ‚‹ใจๅคšใใฎๆ‚ฃ่€…ใซใฆใ‚“ใ‹ใ‚“ใ€็Ÿฅ็š„้šœๅฎณใชใฉ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใŒๆฎ‹ใ‚Šใ€้‡็—‡ๆ‚ฃ่€…ใงใฏ็”Ÿๆถฏใซใ‚ใŸใ‚Š็ถšใใ€‚็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใฏๅฐๅ…ใฎๅพŒๅคฉ็š„่„ณ้šœๅฎณใฎไธป่ฆใชๅŽŸๅ› ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200901NANDO:2201260
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_33_076_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "Acute encephalopathy with biphasic seizures and late reduced diffusion" + "Ehlers-Danlos syndrome, arthrochalasis type" @en
rdfs:label - "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + "ใŸใฏใคใ‹ใ‚“ใ›ใคใ—ใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_33_076/http://nanbyodata.jp/ontology/NANDO_1200650
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=513
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_135/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100247http://nanbyodata.jp/ontology/NANDO_2200607
skos:altLabel - "AESD" + "Arthrochalasia EDS" @en
- skos:altLabel - "ไบŒ็›ธๆ€งๆ€ฅๆ€ง่„ณ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018198http://purl.obolibrary.org/obo/MONDO_0007525
skos:prefLabel - "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡" + "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200902 +
http://nanbyodata.jp/ontology/NANDO_2201261 (rdf:type owl:Class @@ -155315,81 +216145,84 @@

hasNotificationNumber19
- dcterms:description - "ๆ€ฅๆ€งใ‹ไบœๆ€ฅๆ€ง็™บ็—‡(้€šๅธธ3ใ‹ๆœˆไปฅๅ†…)ใฎ่จ˜้Š˜ๅŠ›้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ€ๅ‚พ็œ ใ€ไบบๆ ผๅค‰ๅŒ–ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๆ„่ญ˜้šœๅฎณ็ญ‰ใ‚’ๅ‘ˆใ—ใ€็—‡็Šถใฏๅค‰ๅ‹•ใ™ใ‚‹ใ€‚ๆ˜็กใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‚Ž็—‡ใŒ้ทๅปถใ—ใ€ๆ…ขๆ€งใซใฆใ‚“ใ‹ใ‚“็™บไฝœใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็ตŒ้Žไธญ็™บ็†ฑ็ญ‰ใฎๆ„ŸๆŸ“ๅพดๅ€™ใ‚’ไผดใ‚ใชใ„ๅ ดๅˆใ€่‡ชๅทฑๅ…็–ซๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ใ‚’็–‘ใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่‡ชๅพ‹็ฅž็ตŒ็—‡็Šถ(ๅพช็’ฐๅ™จ็—‡็Šถใ€ๅ‘ผๅธๅ™จ็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€็ซ‹ๆฏ›ใ€ๆ„Ÿ่ฆš็—‡็Šถ็ญ‰)ใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ๅฐ่„ณ็—‡็Šถใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸๆฒป็™‚ใŒๅฅๅŠŸใ—ไบˆๅพŒ่‰ฏๅฅฝใช็พคใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€งๆœŸใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใ‚‚่ช็ŸฅๆฉŸ่ƒฝใ€้‹ๅ‹•ๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’ๆฎ‹ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใจ่–ฌๅ‰คๆŠตๆŠ—ๆ€งใซใ‚ใ‚‹ใ„ใฏ้•ทๆœŸใซ็ตŒ้Žใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200902NANDO:2201261
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_34_077_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "Autoimmune encephalitis" + "Ehlers-Danlos syndrome, dermatosparaxis type" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Ž" + "ใฒใตใœใ„ใ˜ใ‚ƒใใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_34_077/http://nanbyodata.jp/ontology/NANDO_1200651
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2146
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_13_135/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100248http://nanbyodata.jp/ontology/NANDO_2200607
skos:altLabel - "Autoimmune encephalopathy" + "Dermatosparaxis EDS" @en
- skos:altLabel - "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็—‡" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020640http://purl.obolibrary.org/obo/MONDO_0009161
skos:prefLabel - "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Ž" + "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200903 +
http://nanbyodata.jp/ontology/NANDO_2201262 (rdf:type owl:Class @@ -155397,79 +216230,72 @@

hasNotificationNumber63
- dcterms:description - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž acute encephalitis with refractory, repetitive partial seizures (AERRPS) ใฏๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ้ƒจๅˆ†็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่„ณ็‚Žใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑ๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Šใ‘ใ„ใ‚Œใ‚“ใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใŸใ‚ใ€ๅŒปๅญฆ็š„ใฎใฟใชใ‚‰ใš็คพไผš็š„่ฆ‹ๅœฐใ‹ใ‚‰ใ‚‚้‡่ฆ–ใ™ในใ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200903NANDO:2201262
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_35_078_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label - "acute encephalitis with refractory, repetitive partial seizures" + "Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome" @en
rdfs:label - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + "ใงใ‚‹ใพใŸใ‚“4ใŠใƒผใ‚Šใ‚…ใ†ใ•ใ‚“ใใฆใ‚“ใ„ใ“ใ†ใ1ใ‘ใฃใใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01829http://nanbyodata.jp/ontology/NANDO_1200652
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_35_078/https://www.shouman.jp/disease/details/08_13_135/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100249
- skos:altLabel - "AERRPS" - @enhttp://nanbyodata.jp/ontology/NANDO_2200607
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015584http://purl.obolibrary.org/obo/MONDO_0011142
skos:prefLabel - "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž" + "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200904 +
http://nanbyodata.jp/ontology/NANDO_2201263 (rdf:type owl:Class @@ -155477,72 +216303,77 @@

hasNotificationNumber59
- dcterms:description - "ๅคš็™บๆ€ง็กฌๅŒ–็—‡multiple sclerosis๏ผˆ๏ผญ๏ผณ๏ผ‰ใฏไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ—ใ‹ใ—MRIใ‚’ๆ’ฎๅƒใ™ใ‚‹ใจใ€ๅฎŸ้š›ใซใฏ็—‡็Šถใ‚’ๅ‡บใ—ใŸ็—…ๅทฃใฎไฝ•ๅ€ใ‚‚ใฎๆ•ฐใฎ็‚Ž็—‡ๆ€ง่„ฑ้ซ„็—…ๅทฃใŒไธญๆžข็ฅž็ตŒ็ต„็น”ใซๅ‡บ็พใ—ใฆใ„ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎ็‚นใ‚’่ธใพใˆใฆๆ”น่จ‚ใ•ใ‚ŒใŸ2010ๅนด็‰ˆMcDonald่จบๆ–ญๅŸบๆบ–ใงใฏใ€MRIๆ‰€่ฆ‹ใŒ้‡่ฆ–ใ•ใ‚Œใ€ใ•ใ‚‰ใซ้€ ๅฝฑMRIใ‚’็”จใ„ใ‚‹ใ“ใจใง๏ผ‘ๅ›žใฎๆคœๆŸปใงใ‚‚่จบๆ–ญใŒๅฏ่ƒฝใชใปใฉใซ็ฐกไพฟใงๆœ‰็”จใชใ‚‚ใฎใจใชใฃใฆใ„ใ‚‹ใ€‚ใŸใ ใ—ใ€ๆœฌ่จบๆ–ญๅŸบๆบ–ใฏใ€่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใปใผ็ขบๅฎŸใช็—‡ไพ‹ใซใคใ„ใฆใ€ใชใ‚‹ในใๆ—ฉๆœŸใซMSใจใ—ใฆใฎ็ขบๅฎš่จบๆ–ญใ‚’่กŒใชใ†ใŸใ‚ใซไฝœๆˆใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใŸใ‚ใ€โ€จๅๅˆ†ใซไป–็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ไฝœๆฅญใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ“ใจใฏใ€ๅพ“ๆฅใจๅค‰ใ‚ใ‚ŠใŒใชใ„ใ€‚ใจใ“ใ‚ใงใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฏใ€ๅพ“ๆฅใ€่ฆ–็ฅž็ตŒ่„Š้ซ„ๅž‹MS๏ผˆopticospinal MS๏ผšOSMS๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ใใฎไธญใซใฏ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆneuromyelitis optica๏ผšNMO๏ผ‰็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆฌง็ฑณไบบใซๅคšใใ€่ฆ–็ฅž็ตŒใ‚„่„Š้ซ„ใฎใฟใชใ‚‰ใšๅคง่„ณใ‚„ๅฐ่„ณใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹MSใฏ้€šๅธธๅž‹MS๏ผˆconventional MS๏ผšCMS๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber57
dcterms:identifier2200904NANDO:2201263
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_36_079_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "multiple sclerosis" + "Acute intermittent porphyria" @en
rdfs:label - "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ‘ใคใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01490http://nanbyodata.jp/ontology/NANDO_1200812
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_36_079/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1266
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100250http://nanbyodata.jp/ontology/NANDO_2200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005301http://purl.obolibrary.org/obo/MONDO_0008294
skos:prefLabel - "ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200905 +
http://nanbyodata.jp/ontology/NANDO_2201264 (rdf:type owl:Class @@ -155550,94 +216381,77 @@

hasNotificationNumber78
- dcterms:description - "ๅ†็™บๆ€งใพใŸใฏๆ…ขๆ€ง้€ฒ่กŒๆ€งใซๆœซๆขข็ฅž็ตŒใฎ่„ฑ้ซ„ใ‚’็”Ÿใ˜ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆ„Ÿ่ฆš้šœๅฎณใ‚’็คบใ™่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber57
dcterms:identifier2200905NANDO:2201264
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_37_080_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "Chronic inflammatory demyelinating polyneuropathy" + "Hereditary coproporphyria" @en
rdfs:label - "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + "ใ„ใงใ‚“ใ›ใ„ใ“ใทใ‚ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=679http://nanbyodata.jp/ontology/NANDO_1200813
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01527http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=338
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_37_080/https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100251
- skos:altLabel - "CIDP" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002335http://nanbyodata.jp/ontology/NANDO_2200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006702
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007691http://purl.obolibrary.org/obo/MONDO_0007369
skos:prefLabel - "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž" + "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200906 +
http://nanbyodata.jp/ontology/NANDO_2201265 (rdf:type owl:Class @@ -155645,162 +216459,160 @@

hasNotificationNumber20
- dcterms:description - "้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMyasthenia gravis: MG๏ผ‰ใฏ็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎไฟกๅทไผ้”ใซ้–ขใ‚ใ‚‹่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใฃใฆ๏ผŒ็ฅž็ตŒ็ญ‹ใฎๅˆบๆฟ€ไผ้”ใŒ้šœๅฎณใ•ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽไธปใชๆจ™็š„ๆŠ—ๅŽŸใฏใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAcetylcholine receptor: AChR๏ผ‰ใงใ‚ใ‚‹ใŒ๏ผŒ็ญ‹็‰น็•ฐ็š„ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผŽ่‡จๅบŠ็—‡็Šถใฏ๏ผŒ้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹(ๆ˜“็–ฒๅŠดๆ€ง)๏ผŒๅค•ๆ–นใซ็—‡็ŠถใŒๆ†Žๆ‚ชใ™ใ‚‹(ๆ—ฅๅ†…ๅค‰ๅ‹•)ใ‚’็‰นๅพดใจใ™ใ‚‹๏ผŽ" - @jahasNotificationNumber57
dcterms:identifier2200906NANDO:2201265
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_11_38_081_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "myasthenia gravis" + "Variegate porphyria" @en
rdfs:label - "้‡็—‡็ญ‹็„กๅŠ›็—‡" + "ใ„ใ‘ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2675http://nanbyodata.jp/ontology/NANDO_1200814
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01594http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1269
rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_38_081/https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100252
- skos:altLabel - "MG" - @enhttp://nanbyodata.jp/ontology/NANDO_2200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009688http://purl.obolibrary.org/obo/MONDO_0008297
skos:prefLabel - "้‡็—‡็ญ‹็„กๅŠ›็—‡" + "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - - + + + + + - + - + + + + + - + - + - + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200907 +
http://nanbyodata.jp/ontology/NANDO_2201266 (rdf:type owl:Class ) - -
hasNotificationNumber28
- dcterms:description - "ไนณ็ณ–ไธ่€็—‡ใจใฏใ€ใƒŸใƒซใ‚ฏใซๅซใพใ‚Œใ‚‹็ณ–่ณชใงใ‚ใ‚‹ไนณ็ณ–ใ‚’ใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ™ใ‚‹ไนณ็ณ–ๅˆ†่งฃ้…ต็ด ๏ผˆใƒฉใ‚ฏใ‚ฟใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€ไนณ็ณ–ใ‚’ๆถˆๅŒ–ๅธๅŽใงใใšใ€่‘—ใ—ใ„ไธ‹็—ขใ‚„ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฎๅŽŸๅ› ใซใฏใ€ๅ…ˆๅคฉๆ€งใฎ้…ต็ด ๆฌ ๆใจไบŒๆฌกๆ€งใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ใŒใ‚ใ‚‹ใ€‚ใŸใ ใ—ใ€ๅ“บไนณ้กžใงใฏ็”ŸๅพŒไธ€ๅฎšๆœŸ้–“ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งใฏ้žๅธธใซ้ซ˜ใใ€ๆŽˆไนณๆœŸใ‚’้ŽใŽใ‚‹ใจๆดปๆ€งใŒ็”Ÿ็†็š„ใซไฝŽไธ‹ใ™ใ‚‹ใ€‚ใพใŸใ€ๆ„ŸๆŸ“ๆ€ง่…ธ็‚Žใชใฉใซใ‚ˆใ‚‹ไบŒๆฌก็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฏๅŽŸๅ‰‡ใจใ—ใฆ็”Ÿ็†็š„ๆดปๆ€งใƒฌใƒ™ใƒซใซๅ›žๅพฉใ™ใ‚‹ใŸใ‚ใ€ใ“ใ“ใง่ฟฐในใ‚‹ไนณ็ณ–ไธ่€็—‡ใฏๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใซๅŸบใฅใ็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚" - @ja
hasNotificationNumber57
dcterms:identifier2200907NANDO:2201266
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "lactose intolerance" + "Erythropoietic protoporphyria" @en
rdfs:label - "ไนณ็ณ–ไธ่€็—‡" + "ใ›ใใŒใใ‚…ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2102http://nanbyodata.jp/ontology/NANDO_1200815
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00116http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1300
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_001/https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100254http://nanbyodata.jp/ontology/NANDO_2200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009116http://purl.obolibrary.org/obo/MONDO_0001676
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008319
skos:prefLabel - "ไนณ็ณ–ไธ่€็—‡" + "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200908 +
http://nanbyodata.jp/ontology/NANDO_2201267 (rdf:type owl:Class @@ -155808,79 +216620,72 @@

hasNotificationNumber25
- dcterms:description - "่”—็ณ–ใƒปใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡๏ผˆCSID๏ผ‰ใฏใ€ไบŒ็ณ–้กžใงใ‚ใ‚‹่”—็ณ–ใจ้บฆ่Šฝ็ณ–ใ‚’่…ธใงๅˆ†่งฃใ™ใ‚‹้…ต็ด ใฎๅƒใใŒๆฌ ๆใ—ใŸใ‚Šใ€่‘—ใ—ใไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€่”—็ณ–ใ€้บฆ่Šฝ็ณ–ใ€ใŠใ‚ˆใณๆพฑ็ฒ‰ใ‚’ๅฐ่…ธใงๅˆ†่งฃใ—ใฆๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใšใ€็ ‚็ณ–ใ‚„ๆพฑ็ฒ‰ใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจๆฟ€ใ—ใ„ไธ‹็—ขใจ่…น้ƒจ่†จๆบ€ใ‚’ใใŸใ™ๅ…ˆๅคฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber57
dcterms:identifier2200908NANDO:2201267
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "congenital sucrase-isomaltase deficiency" + "Porphyria cutanea tarda" @en
rdfs:label - "ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡" + "ใฐใ‚“ใฏใคใ›ใ„ใฒใตใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2100http://nanbyodata.jp/ontology/NANDO_1200816
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_002/https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100254
- skos:altLabel - "CSID" - @enhttp://nanbyodata.jp/ontology/NANDO_2200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009114http://purl.obolibrary.org/obo/MONDO_0015104
skos:prefLabel - "ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡" + "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200909 +
http://nanbyodata.jp/ontology/NANDO_2201268 (rdf:type owl:Class @@ -155888,79 +216693,67 @@

hasNotificationNumber26
- dcterms:description - "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธๅ…จ็—‡ใฏใ€ๅฐ่…ธไธŠ็šฎใ‹ใ‚‰ใƒ–ใƒ‰ใ‚ฆ็ณ–ใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใŠใ‚ˆใณใใ‚Œใ‚‰ใงๆง‹ๆˆใ•ใ‚Œใ‚‹ๅˆ†ๅญใ‚’ๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ใซใ€ๅ‡บ็”ŸๅพŒใฎๅ“บไนณ้–‹ๅง‹ใจใจใ‚‚ใซๆฟ€ใ—ใ„ไธ‹็—ขใŒใฏใ˜ใพใ‚Šใ€ๆ•ฐๆ—ฅใชใ„ใ—ๆ•ฐ้€ฑใฎใ†ใกใซ้‡็ฏคใช่„ฑๆฐดใ€ไฝŽ่ก€็ณ–ใ‚„ใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber57
dcterms:identifier2200909NANDO:2201268
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "glucose-galactose malabsorption" + "Congenital erythropoietic porphyria" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4496http://nanbyodata.jp/ontology/NANDO_1200817
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_003/https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100254
- skos:altLabel - "GGM" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011731http://nanbyodata.jp/ontology/NANDO_2200610
skos:prefLabel - "ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡" + "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2200910 +
http://nanbyodata.jp/ontology/NANDO_2201269 (rdf:type owl:Class @@ -155968,77 +216761,77 @@

hasNotificationNumber24
- dcterms:description - "ๆœฌ็—‡ใฏใ€1969ๅนดHadornใ‚‰ใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใฏๅไบŒๆŒ‡่…ธใ€็ฉบ่…ธ็ฒ˜่†œใซๅญ˜ๅœจใ—ใ€ใƒˆใƒชใƒ—ใ‚ทใƒŽใ‚ฒใƒณใ‚’ๆดปๆ€งๅŒ–ใ—ใฆใƒˆใƒชใƒ—ใ‚ทใƒณใซใ™ใ‚‹ๅƒใใŒใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใซใŠใ„ใฆใฏใ€ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่›‹็™ฝ่ณชๅˆ†่งฃๆดปๆ€งใฎๅฎŒๅ…จใชๆฌ ๆใ‚’ๆฅใ™ใ€‚" - @jahasNotificationNumber57
dcterms:identifier2200910NANDO:2201269
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "enterokinase deficiency" + "X-linked dominant protoporphyria" @en
rdfs:label - "ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚†ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2159http://nanbyodata.jp/ontology/NANDO_1200818
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00988http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7146
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_004/https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100254http://nanbyodata.jp/ontology/NANDO_2200610
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009173http://purl.obolibrary.org/obo/MONDO_0010420
skos:prefLabel - "ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡" + "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200911 +
http://nanbyodata.jp/ontology/NANDO_2201270 (rdf:type owl:Class @@ -156046,62 +216839,72 @@

hasNotificationNumber23
- dcterms:description - "ๅ…ˆๅคฉๆ€งใฎใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅˆ†ๆณŒ่ƒฝใฎๆˆ็†Ÿ้…ๅปถใŒๅŽŸๅ› ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซใฏๅคš็ณ–้กžใฎๅธๅŽใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ“ใจใงใ€็™บ่‚ฒ้šœๅฎณใ‚„ใงใ‚“ใทใ‚“้ก†็ฒ’ใ‚’ๆททใ˜ใŸ็™บ้…ตๆ€งใฎไธ‹็—ขใ‚’ใใŸใ™ใ€‚ใƒชใƒ‘ใƒผใ‚ผใ‚„ใƒˆใƒชใƒ—ใ‚ทใƒณใชใฉไป–่†ต้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ‚‚ใฎใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๅฎถๆ—ๅ†…็™บ็”Ÿใ‚’่ชใ‚ใŸ่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ใฎๆˆไบบไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€็จ€ใงใฏใ‚ใ‚‹ใŒๆฐธ็ถš็š„ใช่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber57
dcterms:identifier2200911NANDO:2201270
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label - "amylase deficiency" + "Hepatoerythropoietic porphyria" @en
rdfs:label - "ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "ใ‹ใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_005/http://nanbyodata.jp/ontology/NANDO_1200819
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100254http://nanbyodata.jp/ontology/NANDO_2200610
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019799
skos:prefLabel - "ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡" + "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200912 +
http://nanbyodata.jp/ontology/NANDO_2201271 (rdf:type owl:Class @@ -156109,62 +216912,76 @@

hasNotificationNumber30
- dcterms:description - "ๅ…ˆๅคฉๆ€งใฎใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€1964ๅนดใซSheldonใŒ2ๅฎถ็ณป4็—‡ไพ‹ใซใคใ„ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ€‚ๅ…ˆๅคฉ็š„ใซ่†ตใƒชใƒ‘ใƒผใ‚ผใฎใฟใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€็”ŸๅพŒ้–“ใ‚‚ใชใ่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Š้‡็ฏคใช่„‚่‚ชไพฟใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€ใƒชใƒ‘ใƒผใ‚ผใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใ‚ณใƒชใƒ‘ใƒผใ‚ผใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ไธก้…ต็ด ใ‚’ๅŒๆ™‚ใซๆฌ ๆใ—ใŸ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber23
dcterms:identifier2200912NANDO:2201271
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_06_009_01.pdf
rdfs:label - "lipase deficiency" + "Idiopathic autoimmune hemolytic anemia" @en
rdfs:label - "ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" + "ใจใใฏใคใ›ใ„ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_006/https://www.shouman.jp/disease/details/09_06_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100254http://nanbyodata.jp/ontology/NANDO_2200620
+ skos:altLabel + "Idiopathic AIHA" + @en
+ skos:altLabel + "Idiopathic autoimmune haemolytic anaemia" + @en
skos:prefLabel - "ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡" + "็‰น็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + "ใžใใฏใคใ›ใ„ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira - - + + - + - + - - + + + + + +
http://nanbyodata.jp/ontology/nando#2200913 +
http://nanbyodata.jp/ontology/NANDO_2201272 (rdf:type owl:Class @@ -156172,72 +216989,76 @@

hasNotificationNumber29
- dcterms:description - "่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžใฎๅพฎ็ตจๆฏ›ใŒ่…ธ็ฎก่…”ๅดใซๆญฃๅธธใซๅฑ€ๅœจใงใใชใ„ใŸใ‚ใซๅคง้‡ใฎๆฐดๆง˜ไธ‹็—ขใ‚’ใใŸใ—ใ€ๆฐดใ€้›ป่งฃ่ณชใ‚„้‡็‚ญ้…ธใฎๅ–ชๅคฑใจๆ „้คŠ็ด ใฎๅธๅŽ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๅ‹ข้บไผๆ€ง็–พๆ‚ฃใ€‚้›ปๅญ้ก•ๅพฎ้ก็š„ใซๅพฎ็ตจๆฏ›ใฎๅฏ†ๅบฆใŒ็–ŽใงไธˆใŒไฝŽใ„ใ“ใจใ‹ใ‚‰ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡๏ผˆcongenital microvillus atrophy๏ผ‰ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸใ€‚" - @jahasNotificationNumber23
dcterms:identifier2200913NANDO:2201272
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_06_009_01.pdf
rdfs:label - "microvillus inclusion disease" + "Secondary autoimmune hemolytic anemia" @en
rdfs:label - "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2622 + rdfs:label + "็ถš็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_007/https://www.shouman.jp/disease/details/09_06_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100255http://nanbyodata.jp/ontology/NANDO_2200620
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009635 + skos:altLabel + "Secondary AIHA" + @en
+ skos:altLabel + "Secondary autoimmune haemolytic anaemia" + @en
skos:prefLabel - "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…" + "็ถš็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + + + + + "ใ‚ใ‚‹ใตใใ•ใ‚‰ใ›ใฟใ‚" + @ja-Hira - + + + + + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200914 +
http://nanbyodata.jp/ontology/NANDO_2201273 (rdf:type owl:Class @@ -156245,67 +217066,93 @@

hasNotificationNumber27
- dcterms:description - "1961ๅนดใซWaldmannใ‚‰ใซใ‚ˆใ‚Šๆๅ”ฑใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚่…ธ็ฎกๅฃๅ†…ใฎใƒชใƒณใƒ‘็ฎกๅ†…ๅœงใŒไบข้€ฒใ—ใ€ใƒชใƒณใƒ‘็ฎกใฎๆ‹กๅผตใ‚„็ ด็ถปใ‚’ใใŸใ™ใ€‚ใใฎ็ตๆžœใ€ใƒชใƒณใƒ‘ๆถฒใจใจใ‚‚ใซ่›‹็™ฝๆˆๅˆ†ใŒ่…ธ็ฎกๅ†…ใธๆผๅ‡บใ—ไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ใใŸใ™ใ€‚" - @jahasNotificationNumber5
dcterms:identifier2200914NANDO:2201273
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_01_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_015_01.pdf
rdfs:label - "Intestinal Lymphangiectasia" + "ฮฑ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" + @ja
+ rdfs:label + "ฮฑ-thalassemia" @en
rdfs:label - "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_01_008/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4209
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_08_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100256http://nanbyodata.jp/ontology/NANDO_2200626
+ skos:altLabel + "Alpha-thalassaemia" + @en
+ skos:altLabel + "Alpha-thalassemia" + @en
+ skos:altLabel + "ฮฑ-thalassaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018178http://purl.obolibrary.org/obo/MONDO_0011399
skos:prefLabel - "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡" + "ฮฑ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" @ja
- - + - - - - - - + + - + - + + + + + + "ในใƒผใŸใ•ใ‚‰ใ›ใฟใ‚" + @ja-Hira - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200915 +
http://nanbyodata.jp/ontology/NANDO_2201274 (rdf:type owl:Class @@ -156313,74 +217160,88 @@

hasNotificationNumber39
- dcterms:description - "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น(FAP)ใฏใ€APC้บไผๅญใฎ่ƒš็ดฐ่ƒžๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใ€ๅคง่…ธใฎๅคš็™บๆ€ง่…บ่…ซใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚‹ใจใปใผ100%ใฎ็—‡ไพ‹ใซๅคง่…ธ็™ŒใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ็™Œไปฅๅค–ใซใ‚‚ใ€ๆถˆๅŒ–็ฎกใ‚ใ‚‹ใ„ใฏใใฎไป–ใฎ่‡“ๅ™จใซๆง˜ใ€…ใช่…ซ็˜ๆ€งใŠใ‚ˆใณ้ž่…ซ็˜ๆ€งใฎ้šไผด็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ่…บ่…ซๆ€งใƒใ‚ทใƒใƒผใ‚ทใ‚นใซ่ปŸ้ƒจ่…ซ็˜ใ€้ชจ่…ซใ€ๆญฏ็‰™็•ฐๅธธใ€ใƒ‡ใ‚นใƒขใ‚คใƒ‰่…ซ็˜ใชใฉใ‚’ไผดใ†Gardner็—‡ๅ€™็พคใฏAPC้บไผๅญใฎ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€FAPใจๅŒไธ€็–พๆ‚ฃใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚APC้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ๅคง่…ธ็ทš่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใซ่„ณ่…ซ็˜๏ผˆไธปใซๅฐ่„ณใฎ้ซ„่Šฝ่…ซ๏ผ‰ใ‚’ไผดใ†Turcot็—‡ๅ€™็พค(type2)ใ‚‚FAPใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚" - @jahasNotificationNumber5
dcterms:identifier2200915NANDO:2201274
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_02_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_08_015_01.pdf
rdfs:label - "familial adenomatous polyposis" + "ฮฒ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" + @ja
+ rdfs:label + "ฮฒ-thalassemia" @en
rdfs:label - "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" - @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_02_009/https://www.shouman.jp/disease/details/09_08_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100257http://nanbyodata.jp/ontology/NANDO_2200626
skos:altLabel - "FAP" + "Beta-thalassaemia" + @en
+ skos:altLabel + "Beta-thalassemia" + @en
+ skos:altLabel + "ฮฒ-thalassaemia" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021055http://purl.obolibrary.org/obo/MONDO_0019402
skos:prefLabel - "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" + "ฮฒ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200916 +
http://nanbyodata.jp/ontology/NANDO_2201275 (rdf:type owl:Class @@ -156388,77 +217249,79 @@

hasNotificationNumber40
- dcterms:description - "ๅ…จๆถˆๅŒ–็ฎกใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใงใ‚ใ‚‹่‹ฅๅนดๆ€งใƒใƒชใƒผใƒ—ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ด„25๏ผ…ใฏๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใƒใƒชใƒผใƒ—ๆ•ฐใฏ5๏ฝž200ๅ€‹็จ‹ๅบฆใงใ‚ใ‚Šใ€็™บ็”Ÿ้ƒจไฝใ€ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…จๆถˆๅŒ–็ฎกๅž‹ใ€่ƒƒ้™ๅฑ€ๅž‹ใ€ๅคง่…ธ้™ๅฑ€ๅž‹ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200916NANDO:2201275
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_02_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_26_052_01.pdf
rdfs:label - "Juvenile polyposis" + "Congenital aplastic anemia" @en
rdfs:label - "่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1248http://nanbyodata.jp/ontology/NANDO_1200302
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_02_010/https://www.shouman.jp/disease/details/09_26_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100257http://nanbyodata.jp/ontology/NANDO_2200693
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008276 + skos:altLabel + "Congenital aplastic anaemia" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017380http://purl.obolibrary.org/obo/MONDO_0001713
skos:prefLabel - "่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น" + "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "Idiopathic aplastic anaemia" + @en - +
http://nanbyodata.jp/ontology/nando#2200917 +
http://nanbyodata.jp/ontology/NANDO_2201276 (rdf:type owl:Class @@ -156466,79 +217329,84 @@

hasNotificationNumber41
- dcterms:description - "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พคใฏ้ฃŸ้“ใ‚’้™คใๅ…จๆถˆๅŒ–็ฎกใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใจๅฃๅ”‡ใ€ๅฃ่…”ใ€ๆŒ‡ๅฐ–้ƒจใ‚’ไธญๅฟƒใจใ™ใ‚‹็šฎ่†šใ€็ฒ˜่†œใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡่€…ใฎ็ด„50๏ผ…ใฏๅฎถๆ—ๆญดใŒใชใ„ๅญค็™บไพ‹ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใฏ็ฒ˜่†œไธŠ็šฎใฎ้Ž่ชค่…ซ็š„้Žๅฝขๆˆใ€็ฒ˜่†œ็ญ‹ๆฟใ‹ใ‚‰ใฎๅนณๆป‘็ญ‹็ทš็ถญๆŸใฎๆจนๆž็Šถๅข—็”ŸใŒ็‰นๅพดใงใ‚ใ‚Šใ€ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚นใƒใƒชใƒผใƒ—ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200917NANDO:2201276
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_02_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_26_052_01.pdf
rdfs:label - "Peutz-Jeghers syndrome" + "Idiopathic aplastic anemia" @en
rdfs:label - "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค" + "ใจใใฏใคใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1252http://nanbyodata.jp/ontology/NANDO_1200296
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_02_011/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6476
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/09_26_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100257http://nanbyodata.jp/ontology/NANDO_2200693
skos:altLabel - "Peutz-Jeghers็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008280http://purl.obolibrary.org/obo/MONDO_0012197
skos:prefLabel - "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค" + "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - + "Secondary aplastic anaemia" + @en
http://nanbyodata.jp/ontology/nando#2200918 +
http://nanbyodata.jp/ontology/NANDO_2201277 (rdf:type owl:Class @@ -156546,79 +217414,74 @@

hasNotificationNumber38
- dcterms:description - "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พคใฏใ€็šฎ่†šใƒป็ฒ˜่†œใ€ๆถˆๅŒ–็ฎกใ€ไนณ่…บใ€็”ฒ็Šถ่…บใ€ไธญๆžข็ฅž็ตŒใ€ๆณŒๅฐฟ็”Ÿๆฎ–ๅ™จใชใฉใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€ง็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅทจ้ ญ็—‡ใ€้Ž่ชค่…ซๆ€งๅคง่…ธใƒใƒชใƒใƒผใ‚ทใ‚นใ€่„‚่‚ช่…ซใŠใ‚ˆใณ้™ฐ่ŒŽไบ€้ ญใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใƒใƒŠใƒคใƒณใƒปใƒฉใ‚คใƒชใƒผใƒปใƒซใƒใƒซใ‚ซใƒ็—‡ๅ€™็พค๏ผˆBannayan-Riley-Ruvalcaba syndrome๏ผŒไปฅไธ‹BRRS๏ผ‰ใฏๅ…ˆๅคฉๆ€งใฎ้‡็—‡ๅž‹ใจใ—ใฆๆ‰ฑใ†ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200918NANDO:2201277
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_02_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_26_052_01.pdf
rdfs:label - "Cowden syndrome" + "Secondary aplastic anemia" @en
rdfs:label - "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค" + "ใซใ˜ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira
+ rdfs:label + "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01222http://nanbyodata.jp/ontology/NANDO_1200297
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_02_012/https://www.shouman.jp/disease/details/09_26_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100257http://nanbyodata.jp/ontology/NANDO_2200693
skos:altLabel - "Cowden็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016063
skos:prefLabel - "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค" + "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + + "ใ‹ใ‚“ใˆใ‚“ใ”ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค" + @ja-Hira - - + + - + - + - - + +
http://nanbyodata.jp/ontology/nando#2200919 +
http://nanbyodata.jp/ontology/NANDO_2201278 (rdf:type owl:Class @@ -156626,72 +217489,69 @@

hasNotificationNumber19
- dcterms:description - "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค๏ผˆcyclic vomiting syndrome,CVS๏ผ‰ใฏๆ•ฐๆ—ฅ้–“ใฎๅ˜”ๅ็™บไฝœใ‚’ๅ‘จๆœŸ็š„ใซใใ‚Š่ฟ”ใ™ใŒ,้–“ๆฌ ๆœŸใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจ, ๆ•ฐๅนดใฎ็ตŒ้Žใซใ‚ˆใ‚Š่‡ช็„ถๆฒป็™’ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹.CVSใฏๅ…จใฆใฎไบบ็จฎใง่ฆ‹ใ‚‰ใ‚Œ,้ ปๅบฆใฏ็™ฝไบบใง2%ใจใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹.Liใ‚‰ใฏๅฐๅ…ใฎ็™บ็—‡ๅนด้ฝขใฏไธญๅคฎๅ€คใŒ4.8ๆญณใงๆœ€ๅฐ็™บ็—‡ๅนด้ฝขใฏ็”ŸๅพŒ6ๆ—ฅ,ๆˆไบบใฎ็™บ็—‡ๅนด้ฝขใฎไธญๅคฎๅ€คใฏ35ๆญณใงๆœ€้ซ˜้ฝขใฏ73ๆญณใงใ‚ใ‚Š,ๆ€งๅทฎใฏๅฐๅ…ใง57:43(ๅฅณ:็”ท),ๆˆไบบใงใฏ9:8(ๅฅณ:็”ท)ใจๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹1)." - @jahasNotificationNumber20
dcterms:identifier2200919NANDO:2201278
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_03_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_09_26_052_01.pdf
rdfs:label - "Cyclic Vomiting Syndrome" + "Hepatitis-associated aplastic anemia" @en
rdfs:label - "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6604 + rdfs:label + "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_03_013/https://www.shouman.jp/disease/details/09_26_052/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100258http://nanbyodata.jp/ontology/NANDO_2200693
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010778 + skos:altLabel + "Hepatitis-associated aplastic anaemia" + @en
skos:prefLabel - "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค" + "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€" @ja
- - + - - - - - - + + - + - + - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200920 +
http://nanbyodata.jp/ontology/NANDO_2201279 (rdf:type owl:Class @@ -156699,82 +217559,72 @@

hasNotificationNumber1
- dcterms:description - "ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใ—ใฐใ—ใฐใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅคง่…ธใฎๅŽŸๅ› ไธๆ˜Žใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐ็š„็‚Ž็—‡ใงใ€30ๆญณๆœชๆบ€ใฎๆˆไบบใซๅฅฝ็™บใ™ใ‚‹ใŒๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๆˆไบบใซใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆ€งไธ‹็—ขใ‚’ๆฅใŸใ—ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใชใ‚‹ใ€‚ๅฐๅ…ใฏ้€ฒ่กŒใŒๆ—ฉใใ€้‡็ฏคใชๅ…จๅคง่…ธ็‚Žๅž‹ใซ็งป่กŒใ—ใ‚„ใ™ใใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆŠตๆŠ—ๆ€งใŒๅคšใ„ใ€‚่ฟ‘ๅนดๅข—ๅŠ ๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200920NANDO:2201279
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_04_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf
rdfs:label - "Ulcerative colitis" + "gp91phox-deficient chronic granulomatous disease" @en
rdfs:label - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" + "gp91phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2948 + rdfs:label + "ใ˜ใƒผใดใƒผ91ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01466http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8733
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_04_014/https://www.shouman.jp/disease/details/10_05_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100259
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005101http://nanbyodata.jp/ontology/NANDO_2200757
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009960http://purl.obolibrary.org/obo/MONDO_0010389
skos:prefLabel - "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž" + "gp91phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200921 +
http://nanbyodata.jp/ontology/NANDO_2201280 (rdf:type owl:Class @@ -156782,89 +217632,72 @@

hasNotificationNumber2
- dcterms:description - "ๆถˆๅŒ–็ฎกใฎ่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€็ต‚ๆœซๅ›ž่…ธใจๅคง่…ธใฎ็ฝนๆ‚ฃใŒๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€ๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ™ใ‚‹ใ€‚็‚Ž็—‡ใฏๆ€ฅๆ€งใพใŸใฏๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅฏ›่งฃใจๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่…ธ็ฒ˜่†œใ‹ใ‚‰่…ธ็ฎกๅ…จๅฑคใซๆณขๅŠใ™ใ‚‹็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ—ใ€ๆตฎ่…ซใ‚„ๆฝฐ็˜็—…ๅค‰ใŒๆ–‘็ŠถใซใพใŸใฏ็ทš็Šถใซ็™บ็”Ÿใ—ใ€่…ธ็ฎก็‹ญ็ช„ใ‚„็˜ปๅญ”ใชใฉใฎ็‰นๅพด็š„็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚็ฒ˜่†œๅ›บๆœ‰ๅฑคใซTNF-ฮฑใ‚’็”ฃ็”Ÿใ™ใ‚‹็ดฐ่ƒžใŒๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Š็‚Ž็—‡ใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200921NANDO:2201280
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_04_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf
rdfs:label - "Crohn disease" + "p22phox-deficient chronic granulomatous disease" @en
rdfs:label - "ใ‚ฏใƒญใƒผใƒณ็—…" + "p22phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2948 + rdfs:label + "ใดใƒผ22ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00286http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2297
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_04_015/https://www.shouman.jp/disease/details/10_05_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100259
- skos:altLabel - "Crohn็—…" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005011http://nanbyodata.jp/ontology/NANDO_2200757
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009960http://purl.obolibrary.org/obo/MONDO_0009308
skos:prefLabel - "ใ‚ฏใƒญใƒผใƒณ็—…" + "p22phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200922 +
http://nanbyodata.jp/ontology/NANDO_2201281 (rdf:type owl:Class @@ -156872,55 +217705,72 @@

hasNotificationNumber4hasNotificationNumber14
dcterms:identifier2200922NANDO:2201281
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_04_016_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf
rdfs:label - "Early-onset Inflammatory Bowel Disease" + "p47phox-deficient chronic granulomatous disease" @en
rdfs:label - "ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" + "p47phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
+ rdfs:label + "ใดใƒผ47ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_04_016/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2298
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100259http://nanbyodata.jp/ontology/NANDO_2200757
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009309
skos:prefLabel - "ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ" + "p47phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200923 +
http://nanbyodata.jp/ontology/NANDO_2201282 (rdf:type owl:Class @@ -156928,74 +217778,72 @@

hasNotificationNumber3
- dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใฃใฆ่…ธ็ฎกใŒ้šœๅฎณใ•ใ‚Œ๏ผŽ้›ฃๆฒปๆ€งไธ‹็—ข็—‡ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽUnsworthใ‚‰ใฏไปฅไธ‹ใฎ๏ผ”้ …็›ฎใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ—ใŸ๏ผŽ1. ้ฃŸ้คŒ็™‚ๆณ•ใƒปๅฎŒๅ…จ้™่„ˆๆ „้คŠใงๆ”นๅ–„ใ—ใชใ„ๆ…ขๆ€ง้›ฃๆฒปๆ€งไธ‹็—ข็—‡2. ๅไบŒๆŒ‡่…ธใƒปๅฐ่…ธ็”Ÿๆคœใง็ตจๆฏ›่Ž็ธฎ๏ผŒ็ฒ˜่†œๅ›บๆœ‰ๅฑคใธใฎๅ˜ๆ ธ็ดฐ่ƒžใƒปๅฝข่ณช็ดฐ่ƒžใ‚’ไธญๅฟƒใจใ—ใŸ็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹3. ๆญฃๅธธ่…ธ็ฎกใ‚’็”จใ„ใŸๅ…็–ซ็ต„็น”ๅญฆ็š„ๆ–นๆณ•ใง่ก€ๆธ…ไธญใซๆŠ—่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹๏ผŽใŸใ ใ—ๆ—ขใซๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑๆŠ—ๅŽŸ๏ผˆAIE-75, villin๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ้™ฝๆ€ง๏ผŽ4. ๆ˜Žใ‚‰ใ‹ใชๅ…็–ซไธๅ…จ็—‡ใŒใชใ„ใ—ใ‹ใ—ใใฎๅพŒ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฎไธป่ฆใชๅŸบ็คŽ็–พๆ‚ฃใงใ‚ใ‚‹โ€œๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ใ€่…ธ็–พๆ‚ฃใ‚’ไผดใ†ไผดๆ€งๅŠฃๆ€งๅ…็–ซ่ชฟ็ฏ€็•ฐๅธธ(immunedysregulation, polyendocrinopathy, enteropathy, X-linked;IPEX)็—‡ๅ€™็พคโ€ใฎ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใซใ„ใŸใ‚Š๏ผŒใ•ใ‚‰ใซใ“ใ‚ŒใŒๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใซๅˆ†้กžใ•ใ‚ŒใŸใ“ใจใ‹ใ‚‰๏ผŒไธŠ่จ˜้ …็›ฎใฎ1-3ใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ“ใจใŒๅˆ็†็š„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽIPEX็—‡ๅ€™็พคใฏFOXP3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใ‚’ไธป่ฆ็—‡ๅ€™ใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ๏ผ‘ๅž‹็ณ–ๅฐฟ็—…๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใชใฉๅคšๅฝฉใช่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’ๆฅใ™๏ผŽ" - @jahasNotificationNumber14
dcterms:identifier2200923NANDO:2201282
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_04_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf
rdfs:label - "autoimmune enteropathy" + "p67phox-deficient chronic granulomatous disease" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡" + "p67phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
+ rdfs:label + "ใดใƒผ67ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_04_017/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2299
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100260 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/10_05_040/
- skos:altLabel - "IPEX็—‡ๅ€™็พค" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200757
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019787http://purl.obolibrary.org/obo/MONDO_0009310
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡" + "p67phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200924 +
http://nanbyodata.jp/ontology/NANDO_2201283 (rdf:type owl:Class @@ -157003,72 +217851,72 @@

hasNotificationNumber3hasNotificationNumber14
dcterms:identifier2200924NANDO:2201283
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_04_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf
rdfs:label - "IPEX syndrome" + "p40phox-deficient chronic granulomatous disease" @en
rdfs:label - "IPEX็—‡ๅ€™็พค" + "p40phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
+ rdfs:label + "ใดใƒผ40ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3400http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7752
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_04_017/https://www.shouman.jp/disease/details/10_05_040/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200923
- skos:altLabel - "IPEX็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200757
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010580http://purl.obolibrary.org/obo/MONDO_0013507
skos:prefLabel - "IPEX็—‡ๅ€™็พค" + "p40phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“1ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200925 +
http://nanbyodata.jp/ontology/NANDO_2201284 (rdf:type owl:Class @@ -157076,86 +217924,67 @@

hasNotificationNumber33
- dcterms:description - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใ†ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ—ใ‹ใ—ใ€‚้›ฃๆฒปๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅ†…็ง‘็š„ๆฒป็™‚ใจใ—ใฆใฏๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€้‡็—‡ไพ‹ใงใฏๅ…ฅ้™ขใ€็ตถ้ฃŸใ€ๅฎŒๅ…จ้™่„ˆๆ „้คŠใŒๅฟ…่ฆใจใชใ‚‹ใ€‚่…ธ็ฎก็‹ญ็ช„ใซๅฏพใ—ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Š่ค‡ๆ•ฐๅ›žใฎๅฐ่…ธๅˆ‡้™คใซใ‚ˆใ‚Šใ€็Ÿญ่…ธ็—‡ใ‚’ใใŸใ—ใ†ใ‚‹ใ€‚ๅฐๅ…ไพ‹ใงใฏใ€ๆ „้คŠ้šœๅฎณใชใฉใงๆˆ้•ท็™บ้”ใซใ‚‚ๆ‚ชๅฝฑ้Ÿฟใ‚’ใใŸใ—ใ€้ฃŸไบ‹ๅˆถ้™ใ€ๅ…ฅ้™ขๆฒป็™‚ใชใฉใงใ€ๆ—ฅๅธธ็”Ÿๆดปใ€ๅญฆๆ ก็”Ÿๆดปใ€็คพไผš็”Ÿๆดปใ‚‚้šœๅฎณใ•ใ‚Œใ€ๆ‚ฃๅ…ใฎQOLใฏ่‘—ใ—ใ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber55
dcterms:identifier2200925NANDO:2201284
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_05_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_02_004_01.pdf
rdfs:label - "Chronic nonspecific multiple ulcers of the small intestine" + "Altman type I sacrococcygeal teratoma" @en
rdfs:label - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01853 + rdfs:label + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman โ… ๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_05_018/https://www.shouman.jp/disease/details/11_02_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100261
- skos:altLabel - "CEAS" - @en
- skos:altLabel - "Chronic enteropathy associated with SLCO2A1" - @enhttp://nanbyodata.jp/ontology/NANDO_2200816
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018766http://purl.obolibrary.org/obo/MONDO_0042727
skos:prefLabel - "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡" + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman โ… ๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200926 +
http://nanbyodata.jp/ontology/NANDO_2201285 (rdf:type owl:Class @@ -157163,62 +217992,67 @@

hasNotificationNumber17
- dcterms:description - "่‚็ดฐ่ƒžใฎๆ€ฅ้€ŸใชๅฃŠๆญปใ‚ใ‚‹ใ„ใฏไปฃ่ฌๆฉŸ่ƒฝใฎ้šœๅฎณใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚Šใ€้‡็ฏคๅŒ–ใจใจใ‚‚ใซๅ‡ๅ›บ้šœๅฎณใ‚„ๆ„่ญ˜้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœฌ้‚ฆใงใฏๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถใ€Œ้›ฃๆฒปๆ€งใฎ่‚ใƒป่ƒ†้“็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใ€็ญ๏ผˆๆŒ็”ฐ็ญ๏ผ‰ใฎ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกๆ€ฅๆ€ง่‚ไธๅ…จใ‚’ใƒปๆญฃๅธธ่‚ใชใ„ใ—่‚ๆฉŸ่ƒฝใŒๆญฃๅธธใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹่‚ใซใƒป่‚้šœๅฎณใŒ็”Ÿใ˜ๅˆ็™บ็—‡็Šถๅ‡บ็พใ‹ใ‚‰8้€ฑไปฅๅ†…ใซใƒป้ซ˜ๅบฆใฎ่‚ๆฉŸ่ƒฝ้šœๅฎณใซๅŸบใคใ„ใฆใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆ™‚้–“ใŒ40%ไปฅไธ‹ใชใ„ใ—ใฏINRๅ€ค1.5ไปฅไธŠใ‚’็คบใ™ใ‚‚ใฎใ€€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใก่‚ๆ€งๆ˜็ก II ๅบฆไปฅไธŠใฎ่‚ๆ€ง่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ€Œๆ˜็กๅž‹ใ€ใงใ‚ใ‚‹ใ€‚ใ€€ใ—ใ‹ใ—ๅฐๅ…ใ€ใ“ใจใซไนณๅ…ใฎ่‚ๆ€ง่„ณ็—‡ใฏ่ฆณๅฏŸใซใ‚ˆใฃใฆๅˆคๅฎšใ™ใ‚‹ใ“ใจใŒๅฎนๆ˜“ใงใชใ„ใ€‚่ฟ‘ๅนดใฎๆฌง็ฑณใฎๅฐๅ…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏไบˆๅพŒใ‚’่งฃๆžใ—ใ€INRๅ€ค2.0ไปฅไธŠใงใ‚ใ‚Œใฐๆ„่ญ˜็Šถๆ…‹ใซใ‚ˆใ‚‰ใšๆ˜็กๅž‹ใจๅŒ็ญ‰ใจใ—ใฆๆ‰ฑใฃใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber55
dcterms:identifier2200926NANDO:2201285
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_06_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_02_004_01.pdf
rdfs:label - "acute liver failure with hepatic coma" + "Altman type II sacrococcygeal teratoma" @en
rdfs:label - "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" + "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“2ใŒใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIๅž‹๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_06_019/https://www.shouman.jp/disease/details/11_02_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100262http://nanbyodata.jp/ontology/NANDO_2200816
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0042727
skos:prefLabel - "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰" + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“3ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200927 +
http://nanbyodata.jp/ontology/NANDO_2201286 (rdf:type owl:Class @@ -157226,72 +218060,67 @@

hasNotificationNumber44
- dcterms:description - "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใ‹ใ‚‰่‚ๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€็ต„็น”ๅญฆ็š„ใซ่‚่‡“ใŠใ‚ˆใณใ€่†ต่‡“ใ‚„ๅฟƒ่‡“ใชใฉใฎ็ถฒๅ†…็ณปไปฅๅค–ใฎ่ซธ่‡“ๅ™จใซ้‰„ๆฒˆ็€ใ‚’่ชใ‚ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‰„ไปฃ่ฌ็•ฐๅธธใซ่ตทๅ› ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏ็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ€‚" - @jahasNotificationNumber55
dcterms:identifier2200927NANDO:2201286
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_07_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_02_004_01.pdf
rdfs:label - "Neonatal Hemochromatosis" + "Altman type III sacrococcygeal teratoma" @en
rdfs:label - "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2263 + rdfs:label + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIIๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_07_020/https://www.shouman.jp/disease/details/11_02_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100263http://nanbyodata.jp/ontology/NANDO_2200816
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009275http://purl.obolibrary.org/obo/MONDO_0042727
skos:prefLabel - "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น" + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIIๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“4ใŒใŸ๏ผ‰" + @ja-Hira - - + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200928 +
http://nanbyodata.jp/ontology/NANDO_2201287 (rdf:type owl:Class @@ -157299,79 +218128,74 @@

hasNotificationNumber43
- dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่‚็–พๆ‚ฃใงใ€้บไผ็š„็ด ๅ› ใ‚‚้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹ใ€‚ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅฐๅ…ๆœŸAIHใซใฏๅฅฝ็™บๅนด้ฝขใฏใชใใ€ไนณๅ…ๆœŸใ‹ใ‚‰ใ‚ใ‚‰ใ‚†ใ‚‹ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅ…ธๅž‹ไพ‹ใงใฏๆŠ—ๆ ธๆŠ—ไฝ“ใ€ๆŠ—ๅนณๆป‘็ญ‹ๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“้™ฝๆ€งใ€IgG้ซ˜ๅ€คใชใฉใฎ็‰นๅพดใŒใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใงใฏ่‡ชๅทฑๆŠ—ไฝ“้™ฐๆ€งใ€IgGๆญฃๅธธไพ‹ใŒๅคšใใ€่จบๆ–ญใŒ้›ฃใ—ใ„ใ€‚ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใซใฏ็ต„็น”ๅญฆ็š„ใซ็ทš็ถญๅŒ–ใŒ่ปฝๅบฆใ‚‚ใ—ใใฏใฟใ‚‰ใ‚Œใชใ„ๆ€ฅๆ€ง่‚็‚ŽๆœŸใจ็ทš็ถญๅŒ–ใŒ้€ฒ่กŒใ—ใฆใŠใ‚Šๆ…ขๆ€ง่‚็‚ŽใŒๅŸบ็คŽใซใ‚ใ‚‹ๆ€ฅๆ€งๅข—ๆ‚ชๆœŸใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber55
dcterms:identifier2200928NANDO:2201287
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_07_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_02_004_01.pdf
rdfs:label - "Autoimmune hepatitis" + "Altman type IV sacrococcygeal teratoma" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01685 + rdfs:label + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IVๅž‹๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_07_021/https://www.shouman.jp/disease/details/11_02_004/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100264http://nanbyodata.jp/ontology/NANDO_2200816
skos:altLabel - "AIH" + "Presacral teratoma" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016264http://purl.obolibrary.org/obo/MONDO_0042727
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž" + "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IVๅž‹๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - - - - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200929 +
http://nanbyodata.jp/ontology/NANDO_2201288 (rdf:type owl:Class @@ -157379,94 +218203,77 @@

hasNotificationNumber42
- dcterms:description - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary sclerosing cholangitis, PSC๏ผ‰ใฏ่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใซ็ทš็ถญๆ€ง็‹ญ็ช„ใจๆ‹กๅผตใ‚’็”Ÿใ˜ใ‚‹ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใชใฉใฎ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ๏ผˆinflammatory bowel disease, IBD๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅ…็–ซ็•ฐๅธธใ‚„้บไผ็š„็ด ๅ› ใฎ้–ขไธŽใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅฐๅ…ใงใฏ่‡ชๅทฑๅ…็–ซ็พ่ฑกใŒๅผทใใฟใ‚‰ใ‚Œใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใจใฎ้‘‘ๅˆฅใŒ้›ฃใ—ใ„็—‡ไพ‹ใ‚„ใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใจใฎๅˆไฝตไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200929NANDO:2201288
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_07_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "Primary sclerosing cholangitis" + "Pelizaeus-Merzbacher disease" @en
rdfs:label - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9460http://nanbyodata.jp/ontology/NANDO_1200576
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01684http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3546
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_07_022/https://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100265
- skos:altLabel - "PSC" - @enhttp://nanbyodata.jp/ontology/NANDO_2200836
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0002808
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013433
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018646http://purl.obolibrary.org/obo/MONDO_0010714
skos:prefLabel - "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž" + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…" @ja
- - + - - - - - - + + - + - + + "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใ‚ˆใ†ใณใ‚‡ใ†1" + @ja-Hira - - + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200930 +
http://nanbyodata.jp/ontology/NANDO_2201289 (rdf:type owl:Class @@ -157474,82 +218281,72 @@

hasNotificationNumber16
- dcterms:description - "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซใ‹ใ‘ใฆ่‚ๅค–่ƒ†็ฎกใŒ็ ดๅฃŠใ•ใ‚Œใ€ใพใŸใฏๆถˆๅคฑใ™ใ‚‹ใŸใ‚ใซ้–‰ๅกžๆ€ง้ป„็–ธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃๅ…ใฎ่‚ๅค–่ƒ†็ฎกใฏ็”Ÿๆฅใ‚ใ‚‹ใ„ใฏ็”ŸๅพŒใพใ‚‚ใชใใ‹ใ‚‰ๅฎŒๅ…จ้–‰ๅกžใ‚’ๆฅใŸใ—๏ผŒๆ”พ็ฝฎใ™ใ‚Œใฐ่ƒ†ๆฑๆ€ง่‚็กฌๅค‰ใธใจ้€ฒ่กŒใ—ใฆๆญปใซ่‡ณใ‚‹ใ€‚ๆ•‘ๅ‘ฝใฎใŸใ‚ใซใฏๅค–็ง‘็š„ๆ‰‹่ก“ใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200930NANDO:2201289
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_08_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "biliary atresia" + "Pelizaeus-Merzbacher like disease" @en
rdfs:label - "่ƒ†้“้–‰้Ž–็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1839 + rdfs:label + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01855http://nanbyodata.jp/ontology/NANDO_1200577
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_023/https://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100266
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008867http://nanbyodata.jp/ontology/NANDO_2200836
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0028737http://purl.obolibrary.org/obo/MONDO_0017226
skos:prefLabel - "่ƒ†้“้–‰้Ž–็—‡" + "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + + "HABC" + @en - +
http://nanbyodata.jp/ontology/nando#2200931 +
http://nanbyodata.jp/ontology/NANDO_2201290 (rdf:type owl:Class @@ -157557,79 +218354,84 @@

hasNotificationNumber11
- dcterms:description - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹๏ผˆใพใŸใฏๅคๅ…ธ็š„๏ผ‰ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ3็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200931NANDO:2201290
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_08_024_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "Alagille syndrome" + "Hypomyelination with atrophy of the basal ganglia and cerebellum" @en
rdfs:label - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" + "ใใฆใ„ใ‹ใใŠใ‚ˆใณใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00551http://nanbyodata.jp/ontology/NANDO_1200578
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_024/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7147
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100266http://nanbyodata.jp/ontology/NANDO_2200836
skos:altLabel - "Alagille็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007318http://purl.obolibrary.org/obo/MONDO_0012905
skos:prefLabel - "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค" + "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200932 +
http://nanbyodata.jp/ontology/NANDO_2201291 (rdf:type owl:Class @@ -157637,62 +218439,77 @@

hasNotificationNumber12
- dcterms:description - "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใจใฏใ€่‚็”Ÿๆคœใงๅฐ่‘‰้–“่ƒ†็ฎกใฎๆธ›ๅฐ‘ใ‚’่ชใ‚ใ€็”ปๅƒๆคœๆŸปใชใฉใง่‚ๅค–่ƒ†็ฎกใซใฏ้–‰้Ž–ใŒใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚่‚ๅค–ๅˆไฝต็—‡ใ‚’ใ‚‚ใค็—‡ๅ€™ๆ€งใฎAlagille็—‡ๅ€™็พคใฏ้™คๅค–ใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่‚ๅค–็—…ๅค‰ใฎใชใ„ใ‚‚ใฎใ‚’ใ€Œ้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใ€ใจๅ‘ผใถใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200932NANDO:2201291
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_08_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "Non-syndromic paucity of intrahepatic bile duct" + "18q-syndrome" @en
rdfs:label - "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡" + "18qๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
+ rdfs:label + "18ใใ‚…ใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_025/http://nanbyodata.jp/ontology/NANDO_1200579
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3965
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100266http://nanbyodata.jp/ontology/NANDO_2200836
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011147
skos:prefLabel - "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡" + "18qๆฌ ๅคฑ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - - + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200933 +
http://nanbyodata.jp/ontology/NANDO_2201292 (rdf:type owl:Class @@ -157700,84 +218517,100 @@

hasNotificationNumber13
- dcterms:description - "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡(Progressive familial intrahepatic cholestasis ; PFIC)ใฏใ€ไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅฎถๆ—ๆ€งใฎ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚็‰นๅพดใจใ—ใฆใฏใ€็พๅœจใพใงใซ3็จฎ้กžใฎ็•ฐใชใ‚‹้บไผๅญ็•ฐๅธธใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚ŒใซๅŸบใฅใ„ใฆ1-3ๅž‹ใฎ3็—…ๅž‹(PFIC1-3)ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€PFIC1, 2ใงใฏ่ก€ๆธ…็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธใŠใ‚ˆใณASTใƒปALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ฮณGTPๅ€คใŒๆญฃๅธธใ‚‚ใ—ใใฏ่ปฝๅบฆ้ซ˜ๅ€คใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ„ใšใ‚Œใ‚‚ไนณๅ…ๆœŸใ‹ใ‚‰ๆ…ขๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžใ‚’ๅ‘ˆใ—ใ€้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใŒใ€PFIC1ใงใฏไธ‹็—ขใ€่†ตๆฉŸ่ƒฝไธๅ…จใ€้›ฃ่ดใชใฉ่‚ๅค–็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใฎใซๅฏพใ—ใ€PFIC2ใฏ็—‡็ŠถใŒ่‚ใซ้™ๅฑ€ใ™ใ‚‹ไธ€ๆ–นใงๆ—ฉๆœŸใซ่‚ไธๅ…จใŒ้€ฒ่กŒใ—ใ€ๆ™‚ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไฟๅญ˜็š„ๆฒป็™‚ใฎ็„กๅŠนไพ‹ใฏ่‚็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใŒใ€็งปๆคๅพŒใฎ็ตŒ้Žใฏ่‚ๅค–็—‡็Šถใฎๆœ‰็„กใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚PFIC3ใฏๆ—ฅๆœฌไบบใงใฏ็™บ็—‡ใŒๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200933NANDO:2201292
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_08_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "progressive familial intrahepatic cholestasis" + "Allan-Herndon-Dudley syndrome" @en
rdfs:label - "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" + "ใ‚ใ‚‰ใ‚“ใƒปใฏใƒผใ‚“ใฉใ‚“ใƒปใ ใฉใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1865http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6494
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_026/https://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100266http://nanbyodata.jp/ontology/NANDO_2200836
skos:altLabel - "PFIC" + "AHDS" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008892 + skos:altLabel + "Allan-Herndon-Dudley็—‡ๅ€™็พค" + @ja
+ skos:altLabel + "MCT8ๆฌ ๆ็—‡" + @ja
+ skos:altLabel + "Monocarboxylate transporter 8 deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015762http://purl.obolibrary.org/obo/MONDO_0010354
skos:prefLabel - "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡" + "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + + "ใˆใ„ใกใˆใ™ใดใƒผ60ใ—ใ‚ƒใบใ‚ใ‚“ใณใ‚‡ใ†" + @ja-Hira - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200934 +
http://nanbyodata.jp/ontology/NANDO_2201293 (rdf:type owl:Class @@ -157785,84 +218618,84 @@

hasNotificationNumber14
- dcterms:description - "ๅ…ˆๅคฉๆ€งใฎ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ใงใ‚ใฃใฆใ€่‚‰็œผใง่‚ๅ†…่ƒ†็ฎกใฎๅคš็™บๆ€งใƒปๅˆ†็ฏ€็Šถใƒปๅšข็Šถใฎๆ‹กๅผตใ‚’ใฟใ‚‹ใ‚‚ใฎใŒๅคๅ…ธ็š„ใงใ‚ใ‚‹ใ€‚ๆฌง็ฑณใงCaroli disease ใฏๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ—ใ€ไผดใ†ใ‚‚ใฎใฏCaroli syndrome ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใงใ‚ซใƒญใƒช(Caroli)็—…ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏCaroli syndromeใซ็›ธๅฝ“ใ—ใ€ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ†ใ‚‚ใฎใŒๅคง้ƒจๅˆ†ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200934NANDO:2201293
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_08_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "Caroli Disease" + "Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ็—…" + @ja
+ rdfs:label + "Mitochondrial Hsp60 chaperonopathy" @en
rdfs:label - "ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡" - @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3737http://nanbyodata.jp/ontology/NANDO_1200581
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_027/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7090
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100266http://nanbyodata.jp/ontology/NANDO_2200836
skos:altLabel - "ใ‚ซใƒญใƒช็—…" + "HSP60 chaperon็—…" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010913
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018808http://purl.obolibrary.org/obo/MONDO_0012824
skos:prefLabel - "ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡" + "Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200935 +
http://nanbyodata.jp/ontology/NANDO_2201294 (rdf:type owl:Class @@ -157870,62 +218703,103 @@

hasNotificationNumber15
- dcterms:description - "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ใฏ่‚ๅ†…่ƒ†็ฎกใ‚„่‚ๅค–่ƒ†็ฎกใ‚‚ใ—ใใฏไธกๆ–นใŒๆ‹กๅผตใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏๅ…ˆๅคฉ็š„ใช่ฆๅ› ใŒ่€ƒใˆใ‚‰ใ‚Œใ€ๅฐๅ…ใซๅคšใใ€็จ€ใซๆˆไบบใซใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹็š„ใชใ‚‚ใฎใฏ่‘—ใ—ใ„็ท่ƒ†็ฎกๆ‹กๅผตใŒใ‚ใ‚Šใ€ๅšข่…ซ็Šถใฎๆ‹กๅผตใ‚’็คบใ™ใ“ใจใ‚ˆใ‚Šใ€็ท่ƒ†็ฎกๅšข่…ซใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200935NANDO:2201294
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_08_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "congenital biliary dilatation" + "Salla disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡" + "ใ•ใ‚‰ใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใ‚ตใƒฉ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_028/http://nanbyodata.jp/ontology/NANDO_1200149
+ rdfs:seeAlsohttp://nanbyodata.jp/ontology/NANDO_1200582
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4251
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100266http://nanbyodata.jp/ontology/NANDO_2200836
+ skos:altLabel + "SD" + @en
+ skos:altLabel + "Salla็—…" + @ja
+ skos:altLabel + "ๆœ€่ปฝ็—‡ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011449
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡" + "ใ‚ตใƒฉ็—…" @ja
- - + - - - - - - + + - + - + - - - - + "ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใจใฎใ†ใ‚Šใ‚‡ใ†ใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใณใพใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira - - + + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2200936 +
http://nanbyodata.jp/ontology/NANDO_2201295 (rdf:type owl:Class @@ -157933,79 +218807,67 @@

hasNotificationNumber10
- dcterms:description - "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใฏใ€็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ไธ€่ฆ‹ใ™ใ‚‹ใจ่‚็กฌๅค‰ใซ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€ๅฐ่‘‰ใฎๆง‹็ฏ‰ใฏไฟใŸใ‚ŒใฆใŠใ‚Šใ€ๅ„้–€่„ˆๅŸŸ้–“ใ‚’้€ฃ็ตใ™ใ‚‹่‘—ๆ˜Žใช็ทš็ถญๅŒ–ใจ่‚ๅ†…่ƒ†็ฎกใฎๆ‹กๅผตใ€ใคใถใ‚ŒใŸ้–€่„ˆใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200936NANDO:2201295
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_09_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "congenital hepatic fibrosis" + "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" - @ja
- rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_09_029/
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100267 + rdfs:label + "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณใพใ‚“ๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" + @ja
- skos:altLabel - "CHF" - @en + rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005009 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200836
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018840http://purl.obolibrary.org/obo/MONDO_0018655
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡" + "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณใพใ‚“ๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200937 +
http://nanbyodata.jp/ontology/NANDO_2201296 (rdf:type owl:Class @@ -158013,67 +218875,84 @@

hasNotificationNumber9
- dcterms:description - "่‚็กฌๅค‰ใฏๆ…ขๆ€ง่‚็–พๆ‚ฃใซใ‚ˆใ‚‹่‚็ดฐ่ƒžๅฃŠๆญปใŒ่‡ณใ‚‹็ต‚ๆœซๅƒใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซ่‚็ดฐ่ƒžใฎๅฃŠๆญปใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹ๅฐ่‘‰ๆ”น็ฏ‰ใ€ๅ†็”Ÿ็ต็ฏ€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚่‡“ใฎๅพช็’ฐ้šœๅฎณใจ่‚็ดฐ่ƒžใฎๆฅต็ซฏใชๆธ›ๅฐ‘ใŒๅŸบๆœฌ็š„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200937NANDO:2201296
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_09_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "Liver Cirrhosis" + "Hypomyelination and congenital cataract" @en
rdfs:label - "่‚็กฌๅค‰็—‡" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใชใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_09_030/http://nanbyodata.jp/ontology/NANDO_1200584
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6796
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100268http://nanbyodata.jp/ontology/NANDO_2200836
+ skos:altLabel + "HCC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005155http://purl.obolibrary.org/obo/MONDO_0012514
skos:prefLabel - "่‚็กฌๅค‰็—‡" + "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200938 +
http://nanbyodata.jp/ontology/NANDO_2201297 (rdf:type owl:Class @@ -158081,84 +218960,84 @@

hasNotificationNumber7
- dcterms:description - "้–€่„ˆ่ก€ๆตใฎ็•ฐๅธธใซใฏใ€้–€่„ˆๅœงไบข้€ฒใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใจไผดใ†ใ‚‚ใฎใŒใ‚ใ‚Šใ€ไผดใ‚ใชใ„ใ‚‚ใฎใฏใ€Œ็ดฐๅˆ†้กž28. ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ใ€ใฎ้ …ใง่ฟฐในใฆใ„ใ‚‹ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใฏ้–€่„ˆๅœงใงๅฎš็พฉใ•ใ‚Œใ‚‹ใŒ่‡จๅบŠ็š„ใซใฏๅฟ…ใšใ—ใ‚‚ๅœงๆธฌๅฎšใ‚’่ฆใ•ใชใ„ใ€‚ใ€€้–€่„ˆๅœงไบข้€ฒ็—‡ใฎใ†ใกใ€่‚็กฌๅค‰ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใฏ้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆNon-cirrhotic portal hypertension, NCPH๏ผ‰ใงใ‚ใ‚‹1ใ€‚NCPHใฎใ†ใกใ€ๅฐๅ…ใงๅคšใ„ใ‚‚ใฎใฏ่‚ๅค–้–€่„ˆ้–‰ๅกž็—‡๏ผˆextrahepatic portal vein obstruction, EHPVO๏ผ‰ใงใ‚ใ‚‹ใ€‚่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใซใฏ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆidiopathic portal hypertension, IPHใพใŸใฏใƒใƒณใƒ๏ผˆBanti๏ผ‰็—‡ๅ€™็พค2๏ผ‰ใ€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ใ€€EHPVOใฏ่‚ๅ‰ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้–€้ƒจใ‚’ๅซใ‚€่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใŒใ‚ใฃใฆ้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใฃใŸ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่‚้–€้ƒจใซ็™บ้”ใ—ใŸๆฑ‚่‚ๆ€งๅดๅ‰ฏ่ก€่กŒ่ทฏใ‚’่ชใ‚ใ€ใ“ใ‚Œใ‚’ๆตท็ถฟ็Šถ่ก€็ฎกๅข—็”Ÿใจๅฝขๅฎนใ™ใ‚‹3, 4ใ€‚ใ€€IPHใฏ่‚ๅ†…ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚ๅ†…้–€่„ˆใฎๆœซๆขขใง้–‰ๅกžใƒป็‹ญ็ช„ใ‚’ใใŸใ—้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใงๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚็ต„็น”ๅญฆ็š„ใซ่‚ๅ†…้–€่„ˆใฎๆœซๆขขใซๆฝฐใ‚Œใƒป็‹ญๅฐๅŒ–ใƒป็กฌๅŒ–ๆ€งๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹3, 4ใ€‚ใ€€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใฏ่‚ๅพŒๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้™่„ˆไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใ‹ใ‚‰้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ๆŒ‡ใ™3, 4ใ€‚ใ€€ไปฅไธŠใฎใปใ‹ใซใ‚‚ๅธŒๅฐ‘ใงๅคšๅฝฉใช้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200938NANDO:2201297
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_10_031_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "portal hypertension" + "Ataxia, delayed dentition, and hypomyelination syndrome" @en
rdfs:label - "้–€่„ˆๅœงไบข้€ฒ็—‡" + "ใ—ใฃใกใ‚‡ใ†ใ€ใ—ใŒใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_10_031/http://nanbyodata.jp/ontology/NANDO_1200585
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4645
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100269http://nanbyodata.jp/ontology/NANDO_2200836
skos:altLabel - "Banti syndrome" + "ADDH" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005080
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021969
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0037251http://purl.obolibrary.org/obo/MONDO_0011897
skos:prefLabel - "้–€่„ˆๅœงไบข้€ฒ็—‡" + "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200939 +
http://nanbyodata.jp/ontology/NANDO_2201298 (rdf:type owl:Class @@ -158166,62 +219045,91 @@

hasNotificationNumber6
- dcterms:description - "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡๏ผˆcongenital absence of the portal vein, CAPV๏ผ‰ใฏใ€ๅ…ˆๅคฉๆ€งใฎ้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š้–€่„ˆไฝŽๅฝขๆˆใพใŸใฏๆฌ ๆใซใ‚ˆใ‚Š้–€่„ˆ่ก€ๆตใŒ่‚ใ‚’ๅๅˆ†็Œๆตใ—ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚1793ๅนดใซAbernethyใŒๆœ€ๅˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹ใ€‚1990ๅนดไปฃใ‹ใ‚‰ๆ€ฅ้€Ÿใซ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใ€CAPVใจๅŒใ˜่ก€่กŒๅ‹•ๆ…‹ใจ็—‡็Šถใ‚’็คบใ™ใ€ๅคšๅฝฉใชๅ…ˆๅคฉๆ€ง้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital portosystemic shunt, CPSS๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็Ÿญ็ตก่ก€็ฎกใŒ่‚ๅค–ใซใ‚ใ‚‹ใ‹่‚ๅ†…ใซใ‚ใ‚‹ใ‹ใงๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‚ๅค–ใซใ‚ใ‚‹ๅ ดๅˆใฏๅ…ˆๅคฉๆ€ง่‚ๅค–้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital extrahepatic portosystemic shunt, CEPS๏ผ‰ใงใ‚ใ‚Šใ€CAPVใชใ„ใ—Abernethy malformationใ‚’ๅซใ‚€ใ€‚Morganใฏ1994ๅนดใซCAPVใ‚’Type Iใ€Type IIใจๅˆ†้กžใ—ใŸ1ใ€‚Howardใฏ1997ๅนดใซCEPSใ‚’Type 1 (End-to-side)ใ€Type 2 (Side-to-side) ใจๅˆ†้กžใ—ใฆใŠใ‚Š2ใ€ไธก่€…ใฏๆฆ‚ใญไธ€่‡ดใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎKobayashiใฎๅˆ†้กž3ใ‚‚็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚่‚ๅ†…ใซใ‚ใ‚‹ๅ ดๅˆใฏ่‚ๅ†…้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š1990ๅนดใซParkใŒ่จ˜่ฟฐใ—ใŸๅˆ†้กž4ใ‚’่ธ่ฅฒใ—ใ€Type 1ใ‹ใ‚‰Type 4ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚้™่„ˆ็ฎก้–‹ๅญ˜ใฏType 5 ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใฎ่‡จๅบŠ็ ”็ฉถใซใ‚ˆใ‚ŠๅฎŸ็”จ็š„ใชๅˆ†้กžใŒๅฏ่ƒฝใซใชใ‚Šใ€็—…ๅž‹ใจ่ก“ๅผใŠใ‚ˆใณไบˆๅพŒใ‚’้–ข้€ฃใฅใ‘ใŸBlancใฎๅˆ†้กž5ใ€้–‰ๅกž่ฉฆ้จ“ๆ™‚ใฎ้–€่„ˆๅœงใซใ‚ˆใ‚‹ๅˆ†้กž6, 7ใŒใ•ใ‚Œใ€่จบๆ–ญใจๆฒป็™‚ใŒ็ตใณใคใใ‚ˆใ†ใซใชใฃใฆๆฅใŸใ€‚" - @jahasNotificationNumber4
dcterms:identifier2200939NANDO:2201298
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_10_032_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label - "Congenital Absence of Portal Vein" + "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease" @en
rdfs:label - "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" + "ใ ใคใšใ„ใŒใŸใพใฃใ—ใ‚‡ใ†ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ€ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ€ใ‚ใƒผใงใ‚“ใฐใƒผใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ€ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_10_032/http://nanbyodata.jp/ontology/NANDO_1200586
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6479
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100270http://nanbyodata.jp/ontology/NANDO_2200836
+ skos:altLabel + "PCWH" + @en
+ skos:altLabel + "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€Waardenburg็—‡ๅ€™็พคใ€Hirschsprung็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012198
skos:prefLabel - "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡" + "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200940 +
http://nanbyodata.jp/ontology/NANDO_2201299 (rdf:type owl:Class @@ -158229,62 +219137,72 @@

hasNotificationNumber8
- dcterms:description - "ๅ…ˆๅคฉๆ€งใฎๅ‹•้™่„ˆ็˜ปใฎใ†ใกใ€่‚ๅ‹•่„ˆใจ้–€่„ˆ็ณปใฎใ‚ใ„ใ ใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใŸใ‚‚ใฎใ‚’่จ€ใ†ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใงๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber65
dcterms:identifier2200940NANDO:2201299
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_10_033_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_12_030_01.pdf
rdfs:label - "Congenital Hepatoportal Arteriovenous Fistula" + "AGAT deficiency" @en
rdfs:label - "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" + "AGATๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใˆใƒผใ˜ใƒผใˆใƒผใฆใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_10_033/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7216
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/11_12_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100271http://nanbyodata.jp/ontology/NANDO_2200842
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0012996
skos:prefLabel - "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป" + "AGATๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + "Guanidinoacetate methyltransferase deficiency" + @en - +
http://nanbyodata.jp/ontology/nando#2200941 +
http://nanbyodata.jp/ontology/NANDO_2201300 (rdf:type owl:Class @@ -158292,79 +219210,79 @@

hasNotificationNumber18
- dcterms:description - "้บไผๆ€งใฎ้žๆŠฑๅˆๅž‹้ซ˜ใƒ“ใƒชใƒซใƒ“ใƒณ่ก€็—‡ใฏใ€ใƒ“ใƒชใƒซใƒ“ใƒณUDP-ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธ่ปข็งป้…ต็ด ๏ผˆUGT1A1๏ผ‰ใซใ‚ˆใ‚‹ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆใŒ้šœๅฎณใ•ใ‚Œใฆ่ตทใใ‚‹ใ‚‚ใฎใจใ€ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆๅพŒใฎ่‚็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกใ€่ก€ๆธ…ใƒ“ใƒชใƒซใƒ“ใƒณๅ€คใŒ30-50๏ผˆmg/dl๏ผ‰ใจ้ซ˜ๅ€คใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใฎใŒใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค๏ผˆCN๏ผ‰ type Iใ€6-20๏ผˆmg/dl๏ผ‰ใงใ‚ใ‚‹ใ‚‚ใฎใŒtype IIใ€1-5๏ผˆmg/dl๏ผ‰็จ‹ๅบฆใพใงใงใ‚ใ‚‹ใ‚‚ใฎใŒGilbert็—‡ๅ€™็พค๏ผˆGS๏ผ‰ใงใ‚ใ‚‹1ใ€‚" - @jahasNotificationNumber65
dcterms:identifier2200941NANDO:2201300
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_11_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_12_030_01.pdf
rdfs:label - "Crigler-Najjar syndrome" + "GAMT deficiency" @en
rdfs:label - "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค" + "GAMTๆฌ ๆ็—‡" @ja
+ rdfs:label + "ใ˜ใƒผใˆใƒผใˆใ‚€ใฆใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02054http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7221
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_11_034/https://www.shouman.jp/disease/details/11_12_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100272http://nanbyodata.jp/ontology/NANDO_2200842
skos:altLabel - "Crigler-Najjar็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009044http://purl.obolibrary.org/obo/MONDO_0012999
skos:prefLabel - "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค" + "GAMTๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200942 +
http://nanbyodata.jp/ontology/NANDO_2201301 (rdf:type owl:Class @@ -158372,77 +219290,79 @@

hasNotificationNumber31
- dcterms:description - "้บไผๆ€ง่†ต็‚Žใจใฏใ€ๅบƒ็พฉใซใฏๅฎถ็ณปๅ†…ใซ2ไบบไปฅไธŠใฎๆ‚ฃ่€…ใŒใฟใ‚‰ใ‚Œใ‚‹่†ต็‚Ž๏ผˆๅฎถๆ—ๆ€ง่†ต็‚Ž๏ผ‰ใงใ‚ใฃใฆๅฐ‘ใชใใจใ‚‚๏ผ‘ไบบใซๆ—ข็Ÿฅใฎๆˆๅ› ใ‚’่ชใ‚ใชใ„ๅฎถ็ณปๅ†…้›†็ฉๆ€งใ‚’็คบใ™ๅ†็™บๆ€ง่†ต็‚Žใ‚„ๆ…ขๆ€ง่†ต็‚Žใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใ€้บไผๅญฆ็š„่จบๆ–ญๆ‰‹ๆณ•ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎๆ‚ฃ่€…ใงใฏPRSS1ใ‚„SPINK1้บไผๅญใชใฉใฎ้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใŸใ€‚ๅ‰่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒๅญค็™บไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ€ๅพŒ่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใจใ‹ใ‚‰่†ต็‚Žใฎๅฎถๆ—ๆญดใฏๅฟ…้ ˆใงใฏใชใ„ใ€‚" - @jahasNotificationNumber65
dcterms:identifier2200942NANDO:2201301
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_12_035_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_12_030_01.pdf
rdfs:label - "Hereditary Pancreatitis" + "SLC6A8 deficiency" @en
rdfs:label - "้บไผๆ€ง่†ต็‚Ž" + "SLC6A8ๆฌ ๆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1171 + rdfs:label + "ใˆใ™ใˆใ‚‹ใ—ใƒผ6ใˆใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00933http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3295
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_12_035/https://www.shouman.jp/disease/details/11_12_030/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100273http://nanbyodata.jp/ontology/NANDO_2200842
+ skos:altLabel + "X-linked creatine transporter deficiency" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008185http://purl.obolibrary.org/obo/MONDO_0010305
skos:prefLabel - "้บไผๆ€ง่†ต็‚Ž" + "SLC6A8ๆฌ ๆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - +
http://nanbyodata.jp/ontology/nando#2200943 +
http://nanbyodata.jp/ontology/NANDO_2201302 (rdf:type owl:Class @@ -158450,67 +219370,67 @@

hasNotificationNumber32
- dcterms:description - "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใจใฏใใฎ็™บ็—‡ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹่†ต็‚Žใงใ‚ใ‚‹๏ผŽ2002ๅนดใซๅˆใ‚ใฆใใฎ่จบๆ–ญๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œ๏ผŒใ“ใ‚Œใพใงใซๆˆไบบ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซๅคšใใฎ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใฆใ„ใ‚‹๏ผŽ่‡จๅบŠๅƒใŠใ‚ˆใณ็—…็†็ต„็น”ๅญฆ็š„ใช้•ใ„ใ‹ใ‚‰ใ€1ๅž‹ใจ2ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚1ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏใ€ใ—ใฐใ—ใฐ้–‰ๅกžๆ€ง้ป„็–ธใง็™บ็—‡ใ—ใ€็™บ็—‡ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใง็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ้ซ˜ๅบฆใชๆตธๆฝคใจ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚IgG4้–ข้€ฃ็–พๆ‚ฃใฎ่†ต็—…ๅค‰ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚2ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏๆฏ”่ผƒ็š„่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ใ—ใฐใ—ใฐ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€IgG4ไธŠๆ˜‡ใชใฉใฎ่ก€ๆธ…ๅญฆ็š„็•ฐๅธธๆ‰€่ฆ‹ใซไนใ—ใ„ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๅฅฝไธญ็ƒๆตธๆฝคใซใ‚ˆใ‚‹่†ต็ฎกไธŠ็šฎ็ ดๅฃŠๅƒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ€€1ๅž‹ใ€2ๅž‹ใจใ‚‚ใซใณใพใ‚“ๆ€ง่†ต่…ซๅคงใ€่†ต็ฎก็‹ญ็ดฐๅƒใชใฉใฎ็”ปๅƒๆ‰€่ฆ‹ใ‚’็‰นๅพดใจใ—ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ€‚1ๅž‹ใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ไพ‹ใฎ20-40%ใ€็ถญๆŒ็™‚ๆณ•ไธญใฎ20-30%ใซ่†ต็‚Žใฎๅ†็‡ƒใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้•ทๆœŸ็š„ใซใฏ่†ต่Ž็ธฎใ‚„่†ต็Ÿณใฎไฝต็™บใ‚’ไผดใ„่†ตๅค–ใƒปๅ†…ๅˆ†ๆณŒ้šœๅฎณใซ่‡ณใ‚‹ใ€‚2ๅž‹ใงใฏๅ†็‡ƒไพ‹ใฏๅฐ‘ใชใ„ใ€‚" - @jahasNotificationNumber33
dcterms:identifier2200943NANDO:2201302
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_12_036_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf
rdfs:label - "Autoimmune pancreatitis" + "non-syndromic sagittal craniosynostosis" @en
rdfs:label - "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira
+ rdfs:label + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_12_036/https://www.shouman.jp/disease/details/11_13_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100273http://nanbyodata.jp/ontology/NANDO_2200843
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015175http://purl.obolibrary.org/obo/MONDO_0018112
skos:prefLabel - "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž" + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200944 +
http://nanbyodata.jp/ontology/NANDO_2201303 (rdf:type owl:Class @@ -158518,67 +219438,62 @@

hasNotificationNumber22
- dcterms:description - "็Ÿญ่…ธ็—‡ใฏๅฐ่…ธใฎๅคง้‡ๅˆ‡้™คใซไผดใ†ๅธๅŽไธ่‰ฏใฎ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐ่…ธใฎ70-80%ใŒๅˆ‡้™คใ™ใ‚‹ใจๅŽณ้‡ใชๆ „้คŠ็ฎก็†ใ‚’่ฆใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใŠใ‘ใ‚‹็Ÿญ่…ธ็—‡ใฎๅŽŸๅ› ใจใ—ใฆใฏๅฃŠๆญปๆ€ง่…ธ็‚Žใ€ไธญ่…ธ่ปธๆป่ปขใ€ๅฐ่…ธ้–‰้Ž–ใชใฉๅ…ˆๅคฉๆ€ง่…ธ็–พๆ‚ฃใ‚„ๅค–ๅ‚ทใŒๅŽŸๅ› ใจใชใ‚‹ใ€‚ไธ‹็—ขใ€ไฝ“้‡ๆธ›ๅฐ‘ใ€่„ฑๆฐดใ€ๆ „้คŠ้šœๅฎณใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ€ๅฐๅ…ใงใฏใ—ใฐใ—ใฐๆˆ้•ท้šœๅฎณใซ้™ฅใ‚‹ใ€‚" - @jahasNotificationNumber33
dcterms:identifier2200944NANDO:2201303
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_13_037_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf
rdfs:label - "Short Bowel Syndrome" + "non-syndromic coronal craniosynostosis" @en
rdfs:label - "็Ÿญ่…ธ็—‡" + "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira
+ rdfs:label + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_13_037/https://www.shouman.jp/disease/details/11_13_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100274
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015183http://nanbyodata.jp/ontology/NANDO_2200843
skos:prefLabel - "็Ÿญ่…ธ็—‡" + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - - - - - + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200945 +
http://nanbyodata.jp/ontology/NANDO_2201304 (rdf:type owl:Class @@ -158586,89 +219501,74 @@

hasNotificationNumber36
- dcterms:description - "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10%็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber33
dcterms:identifier2200945NANDO:2201304
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_14_038_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf
rdfs:label - "Hirschsprung disease" + "non-syndromic lambdoid craniosynostosis" @en
rdfs:label - "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=720
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00910 + rdfs:label + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_14_038/https://www.shouman.jp/disease/details/11_13_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100275http://nanbyodata.jp/ontology/NANDO_2200843
skos:altLabel - "Hirschsprung็—…" + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆใƒฉใƒ ใƒ€็ธซๅˆ๏ผ‰" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007723
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018309http://purl.obolibrary.org/obo/MONDO_0017984
skos:prefLabel - "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…" + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200946 +
http://nanbyodata.jp/ontology/NANDO_2201305 (rdf:type owl:Class @@ -158676,67 +219576,67 @@

hasNotificationNumber37
- dcterms:description - "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinalใ€€Pseudo-ใ€€Obstruction๏ผšCIIP๏ผ‰ใฏใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซใ€่งฃๅ‰–ๅญฆ็š„ใช่…ธ็ฎกใฎ้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›ใ€่…ธ็ฎกๆ‹กๅผตใชใฉใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆPseudo-Obstruction๏ผ‰ใซใฏใ€Hirschsprung็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใฎใ‚ˆใ†ใซๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง(Primary)ใฎใ‚‚ใฎใจ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่† ๅŽŸ็—…ใ€ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃใชใฉใฎๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง (Secondary)ใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸ็™บ็—‡ใฎๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ (Chronic Intestinal Pseudo-Obstruction: CIPO)ใฎๅคšใใฏใ€็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber33
dcterms:identifier2200946NANDO:2201305
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_14_039_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf
rdfs:label - "chronic idiopathic intestinal pseudo-obstruction" + "non-syndromic metopic craniosynostosis" @en
rdfs:label - "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01276 + rdfs:label + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_14_039/https://www.shouman.jp/disease/details/11_13_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100275http://nanbyodata.jp/ontology/NANDO_2200843
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018065
skos:prefLabel - "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡" + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200947 +
http://nanbyodata.jp/ontology/NANDO_2201306 (rdf:type owl:Class @@ -158744,79 +219644,62 @@

hasNotificationNumber34
- dcterms:description - "ๆœฌ็—‡ใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พคMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผˆไปฅไธ‹MMIHS๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏ็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" - @jahasNotificationNumber33
dcterms:identifier2200947NANDO:2201306
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_14_040_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf
rdfs:label - "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome" + "non-syndromic squamosal craniosynostosis" @en
rdfs:label - "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01869 + rdfs:label + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_14_040/https://www.shouman.jp/disease/details/11_13_031/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100275
- skos:altLabel - "MMIHS" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007960http://nanbyodata.jp/ontology/NANDO_2200843
skos:prefLabel - "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡" + "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - +
http://nanbyodata.jp/ontology/nando#2200948 +
http://nanbyodata.jp/ontology/NANDO_2201307 (rdf:type owl:Class @@ -158824,67 +219707,62 @@

hasNotificationNumber35
- dcterms:description - "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200948NANDO:2201307
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_14_041_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf
rdfs:label - "Congenital Isolated Hypoganglionosis" + "Apert syndrome (sagittal synostosis)" @en
rdfs:label - "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01871 + rdfs:label + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_14_041/https://www.shouman.jp/disease/details/11_13_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100275http://nanbyodata.jp/ontology/NANDO_2200844
skos:prefLabel - "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡" + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200949 +
http://nanbyodata.jp/ontology/NANDO_2201308 (rdf:type owl:Class @@ -158892,76 +219770,62 @@

hasNotificationNumber5
- dcterms:description - "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€่ฟ‘ๅนดใฎๅ›ฝ้š›ๅˆ†้กž๏ผˆInternational Society for the Study of Vascular Anomalies (ISSVA)ๅˆ†้กž๏ผ‰ใงใฏใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใŒ็„ก็—‡็Šถใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงๆญปใซ่‡ณใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็„ก็—‡็Šถใฎๅฐใ•ใช่‚่ก€็ฎก่…ซใจใฏ็•ฐใชใ‚‹็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚Œใ€ๆฌก็ฌฌใซๆ”ฏๆŒใ‚’้›†ใ‚ใคใคใ‚ใ‚‹ใ€‚ๅฎŸ้š›ใซใฏใ“ใฎใ‚ˆใ†ใช้‡็ฏคใช็ตŒ้Žใ‚’ใจใ‚‹้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ้ ปๅบฆใฏ็จ€ใงใ€ๅนณๆˆ22ๅนดๅบฆใ‚ˆใ‚ŠๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ็ ”็ฉถ็ญใŒ็ต„็น”ใ•ใ‚Œใ€ๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšใฎ่ชๅฎšๆ–ฝ่จญใ‚’ๅฏพ่ฑกใซใ“ใ‚Œใพใงใซไฝ•ๅ›žใ‹ใฎ่ชฟๆŸปใŒ่กŒใ‚ใ‚Œใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฎ่‡จๅบŠ็—‡็Šถใ‚„ๆˆ‘ใŒๅ›ฝใฎๆฒป็™‚ๅฎŸๆ…‹ใŒ่ชฟในใ‚‰ใ‚ŒใŸใ€‚ใ“ใ‚Œใพใงใฎ่ชฟๆŸป็ตๆžœใงใฏ่‚ๅ†…ใซๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่ก€็ฎก่…ซใฎใ‚ใ‚‹ใ‚‚ใฎใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ใ“ใ†ใ—ใŸ็”ปๅƒๆ‰€่ฆ‹ใซๅŠ ใˆใฆๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใชใฉใฎ็—‡็Šถใฎใ‚ใ‚‹ใ‚‚ใฎใ‚’ๆ–ฐ็”Ÿๅ…ใƒปไนณๅนผๅ…ใฎใ€Œ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ€ใจ่จบๆ–ญใ—ใฆใ€ๅฑๆ€ฅ็š„ใช็—…ๆ…‹ใซๆณจๆ„ใ™ใ‚‹ใ‚ˆใ†ใซ่ญฆ้˜ใŒใชใ‚‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200949NANDO:2201308
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_15_042_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf
rdfs:label - "giant hepatic haemangiomas" + "Apert syndrome (coronal synostosis)" @en
rdfs:label - "่‚ๅทจๅคง่ก€็ฎก่…ซ" + "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira
+ rdfs:label + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_15_042/https://www.shouman.jp/disease/details/11_13_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100276
- skos:altLabel - "critical infantile hepatic haemangioma" - @en
- skos:altLabel - "ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ" - @jahttp://nanbyodata.jp/ontology/NANDO_2200844
skos:prefLabel - "่‚ๅทจๅคง่ก€็ฎก่…ซ" + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - +
http://nanbyodata.jp/ontology/nando#2200950 +
http://nanbyodata.jp/ontology/NANDO_2201309 (rdf:type owl:Class @@ -158969,67 +219833,62 @@

hasNotificationNumber20
- dcterms:description - "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่†ฃใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ6้€ฑใซ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่†ฃใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่†ฃๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200950NANDO:2201309
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_16_043_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf
rdfs:label - "persistent cloaca" + "Apert syndrome (lambdoid synostosis)" @en
rdfs:label - "็ทๆŽ’ๆณ„่…”้บๆฎ‹" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01858 + rdfs:label + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_16_043/https://www.shouman.jp/disease/details/11_13_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100277http://nanbyodata.jp/ontology/NANDO_2200844
skos:prefLabel - "็ทๆŽ’ๆณ„่…”้บๆฎ‹" + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - +
http://nanbyodata.jp/ontology/nando#2200951 +
http://nanbyodata.jp/ontology/NANDO_2201310 (rdf:type owl:Class @@ -159037,67 +219896,62 @@

hasNotificationNumber21
- dcterms:description - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡๏ผˆไปฅไธ‹ๆœฌ็—‡๏ผ‰ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏ็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่†ฃๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber31
dcterms:identifier2200951NANDO:2201310
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_12_16_044_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf
rdfs:label - "Cloacal extrophy" + "Apert syndrome (metopic synostosis)" @en
rdfs:label - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01856 + rdfs:label + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_16_044/https://www.shouman.jp/disease/details/11_13_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100278http://nanbyodata.jp/ontology/NANDO_2200844
skos:prefLabel - "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡" + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200952 +
http://nanbyodata.jp/ontology/NANDO_2201311 (rdf:type owl:Class @@ -159105,84 +219959,62 @@

hasNotificationNumber15
- dcterms:description - "X้€ฃ้Ž–ๆ€งใฎ็Ÿฅ็š„้šœๅฎณใฎไธญใงใฏๆฏ”่ผƒ็š„้ ปๅบฆใŒ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹" - @jahasNotificationNumber31
dcterms:identifier2200952NANDO:2201311
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf
rdfs:label - "Coffin-Lowry syndrome" + "Apert syndrome (squamosal synostosis)" @en
rdfs:label - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3376
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00574 + rdfs:label + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_001/https://www.shouman.jp/disease/details/11_13_032/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Coffin-Lowry็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010561http://nanbyodata.jp/ontology/NANDO_2200844
skos:prefLabel - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค" + "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200953 +
http://nanbyodata.jp/ontology/NANDO_2201312 (rdf:type owl:Class @@ -159190,89 +220022,62 @@

hasNotificationNumber22
- dcterms:description - "NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅผฏใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" - @jahasNotificationNumber32
dcterms:identifier2200953NANDO:2201312
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf
rdfs:label - "Sotos syndrome" + "Crouzon disease (sagittal synostosis)" @en
rdfs:label - "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=267
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00718 + rdfs:label + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_002/https://www.shouman.jp/disease/details/11_13_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Sotos็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007299
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019349http://nanbyodata.jp/ontology/NANDO_2200845
skos:prefLabel - "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค" + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200954 +
http://nanbyodata.jp/ontology/NANDO_2201313 (rdf:type owl:Class @@ -159280,84 +220085,62 @@

hasNotificationNumber20
- dcterms:description - "17p11.2ใฎๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็Ÿญใ„ๆŒ‡ใ€ไธญๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„ใช่กŒๅ‹•็‰นๆ€งใ€็ก็œ ้šœๅฎณใ‚’็คบใ™ใ€‚17p11.2ใซไฝ็ฝฎใ™ใ‚‹RAI1้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จใŒไธปใŸใ‚‹ๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber32
dcterms:identifier2200954NANDO:2201313
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf
rdfs:label - "Smith-Magenis syndrome" + "Crouzon disease (coronal synostosis)" @en
rdfs:label - "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1412
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01791 + rdfs:label + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_003/https://www.shouman.jp/disease/details/11_13_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Smith-Magenis็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008434http://nanbyodata.jp/ontology/NANDO_2200845
skos:prefLabel - "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค" + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200955 +
http://nanbyodata.jp/ontology/NANDO_2201314 (rdf:type owl:Class @@ -159365,79 +220148,62 @@

hasNotificationNumber33
- dcterms:description - "RubinsteinใจTaybi(1963ๅนด)ใŒโ€œBroad thumbs and toes and facial abnormalitiesโ€œใจ้กŒใ—ใฆใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œ๏ผŒ็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค7็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œ, Rubinstein-Taybi็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค" - @jahasNotificationNumber32
dcterms:identifier2200955NANDO:2201314
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf
rdfs:label - "Rubinstein-Taybi syndrome" + "Crouzon disease (lambdoid synostosis)" @en
rdfs:label - "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00504 + rdfs:label + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_004/https://www.shouman.jp/disease/details/11_13_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Rubinstein-Taybi็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019188http://nanbyodata.jp/ontology/NANDO_2200845
skos:prefLabel - "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค" + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200956 +
http://nanbyodata.jp/ontology/NANDO_2201315 (rdf:type owl:Class @@ -159445,82 +220211,62 @@

hasNotificationNumber11
- dcterms:description - "ๆŽจๅฎš้ ปๅบฆใ‹ใ‚‰็ฎ—ๅ‡บใ—ใŸๆŽจ่จˆ็ฝนๆ‚ฃ่€…ใฏ็ด„ 4,000ไบบ" - @jahasNotificationNumber32
dcterms:identifier2200956NANDO:2201315
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf
rdfs:label - "Kabuki syndrome" + "Crouzon disease (metopic synostosis)" @en
rdfs:label - "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=833
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00570 + rdfs:label + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_005/https://www.shouman.jp/disease/details/11_13_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007843
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016512http://nanbyodata.jp/ontology/NANDO_2200845
skos:prefLabel - "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค" + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - - - - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200957 +
http://nanbyodata.jp/ontology/NANDO_2201316 (rdf:type owl:Class @@ -159528,84 +220274,62 @@

hasNotificationNumber9
- dcterms:description - "1981ๅนดใซๆˆ‘ใŒๅ›ฝใ‹ใ‚‰็™บไฟกใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผˆๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000๏ผ‰ใ€‚ใปใจใ‚“ใฉใŒๅผง็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใๅฐ‘ๆ•ฐใ€‚" - @jahasNotificationNumber32
dcterms:identifier2200957NANDO:2201316
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf
rdfs:label - "Weaver syndrome" + "Crouzon disease (squamosal synostosis)" @en
rdfs:label - "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3180
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01751 + rdfs:label + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_006/https://www.shouman.jp/disease/details/11_13_033/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Weaver็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010193http://nanbyodata.jp/ontology/NANDO_2200845
skos:prefLabel - "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค" + "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200958 +
http://nanbyodata.jp/ontology/NANDO_2201317 (rdf:type owl:Class @@ -159613,74 +220337,67 @@

hasNotificationNumber16
- dcterms:description - "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๆฟƒใ„็œ‰ๆฏ›ใ€ไธกๅด็œ‰็™’ๅˆใ€้•ทใใ‚ซใƒผใƒซใ—ใŸ็ซๆฏ›ใ€ไธŠๅ‘ใใฎ้ผปๅญ”ใ€่–„ใ„ไธŠๅฃๅ”‡ใ€้•ทใ„ไบบไธญใชใฉ๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚" - @jahasNotificationNumber19
dcterms:identifier2200958NANDO:2201317
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_34_077_01.pdf
rdfs:label - "Cornelia de Lange syndrome" + "anti-NMDA receptor encephalitis" @en
rdfs:label - "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" + "ใ“ใ†ใˆใฌใˆใ‚€ใงใƒใƒผใˆใƒผใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใฎใ†ใˆใ‚“" + @ja-Hira
+ rdfs:label + "ๆŠ—NMDAๅ—ๅฎนไฝ“่„ณ็‚Ž" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_007/https://www.shouman.jp/disease/details/11_34_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Cornelia de Lange็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200902
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016033http://purl.obolibrary.org/obo/MONDO_0021081
skos:prefLabel - "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค" + "ๆŠ—NMDAๅ—ๅฎนไฝ“่„ณ็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใ“ใ†ใถใ„ใ˜ใƒผใ‘ใƒผใ—ใƒผใตใใ”ใ†ใŸใ„ใ“ใ†ใŸใ„ใ‚ˆใ†ใ›ใ„ใฎใ†ใˆใ‚“" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200959 +
http://nanbyodata.jp/ontology/NANDO_2201318 (rdf:type owl:Class @@ -159688,79 +220405,62 @@

hasNotificationNumber28
- dcterms:description - "BWSใฏใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ข(Exomphalos), ๅทจ่ˆŒ(Macroglossia), ๅทจไฝ“(Giantism)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’ๅˆใ‚ใ›ใฆEMG็—‡ๅ€™็พคใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚็ด„15๏ผ…ใฎ็—‡ไพ‹ใงWilms่…ซ็˜ใ€่‚่Šฝ็จฎใ€ๆจช็ด‹็ญ‹่‚‰่…ซใชใฉ่ƒŽๅ…ๆ€ง่…ซ็˜ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚Sotos็—‡ๅ€™็พค็ญ‰ใฎ้Žๆˆ้•ทใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆ" - @jahasNotificationNumber19
dcterms:identifier2200959NANDO:2201318
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_34_077_01.pdf
rdfs:label - "Beckwith-Wiedemann syndrome" + "anti-VGKC complex antibody encephalitis" @en
rdfs:label - "ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=525 + rdfs:label + "ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้™ฝๆ€ง่„ณ็‚Ž" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_008/https://www.shouman.jp/disease/details/11_34_077/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Beckwith-Wiedemann็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007534http://nanbyodata.jp/ontology/NANDO_2200902
skos:prefLabel - "ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค" + "ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้™ฝๆ€ง่„ณ็‚Ž" @ja
- - + - - - - - - + + - + - + + "ใ•ใ„ใฏใคใ‹ใ‚“ใ‹ใ„ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200960 +
http://nanbyodata.jp/ontology/NANDO_2201319 (rdf:type owl:Class @@ -159768,84 +220468,100 @@

hasNotificationNumber1
- dcterms:description - "้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ‚ใ‚Šใ€ๆ—ฅๆœฌใซใฏ3000ๅไปฅไธŠใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber59
dcterms:identifier2200960NANDO:2201319
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf
rdfs:label - "Angelman syndrome" + "relapsing-remitting multiple sclerosis" @en
rdfs:label - "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=88 + rdfs:label + "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01732http://nanbyodata.jp/ontology/NANDO_1200024
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_009/https://www.shouman.jp/disease/details/11_36_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280http://nanbyodata.jp/ontology/NANDO_2200904
skos:altLabel - "Angelman็—‡ๅ€™็พค" + "RRMS" + @en
+ skos:altLabel + "relapsing-remitting MS" + @en
+ skos:altLabel + "ๅ†็™บๅž‹MS" + @ja
+ skos:altLabel + "ๅ†็™บๅฏ›่งฃๅž‹MS" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007113http://purl.obolibrary.org/obo/MONDO_0005314
skos:prefLabel - "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค" + "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200961 +
http://nanbyodata.jp/ontology/NANDO_2201320 (rdf:type owl:Class @@ -159853,72 +220569,93 @@

hasNotificationNumber2
- dcterms:description - "5p-็—‡ๅ€™็พคใฏ5็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ1ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ1ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹" - @jahasNotificationNumber59
dcterms:identifier2200961NANDO:2201320
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf
rdfs:label - "5p- syndrome" + "primary progressive multiple sclerosis" @en
rdfs:label - "5p-็—‡ๅ€™็พค" + "ใ„ใกใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=373http://nanbyodata.jp/ontology/NANDO_1200025
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_010/https://www.shouman.jp/disease/details/11_36_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280http://nanbyodata.jp/ontology/NANDO_2200904
+ skos:altLabel + "PPMS" + @en
+ skos:altLabel + "primary progressive MS" + @en
+ skos:altLabel + "ไธ€ๆฌกๆ€งๆ…ขๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007404http://purl.obolibrary.org/obo/MONDO_0000451
skos:prefLabel - "5p-็—‡ๅ€™็พค" + "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + + + + + + + + + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200962 +
http://nanbyodata.jp/ontology/NANDO_2201321 (rdf:type owl:Class @@ -159926,72 +220663,100 @@

hasNotificationNumber6
- dcterms:description - "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ไธปๅพดใจใ™ใ‚‹" - @jahasNotificationNumber59
dcterms:identifier2200962NANDO:2201321
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf
rdfs:label - "4p- Syndrome" + "secondary progressive multiple sclerosis" @en
rdfs:label - "4p-็—‡ๅ€™็พค" + "ใซใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1654http://nanbyodata.jp/ontology/NANDO_1200026
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_011/https://www.shouman.jp/disease/details/11_36_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280http://nanbyodata.jp/ontology/NANDO_2200904
+ skos:altLabel + "SPMS" + @en
+ skos:altLabel + "secondary progressive" + @en
+ skos:altLabel + "ไบŒๆฌกๆ€งๆ…ขๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" + @ja
+ skos:altLabel + "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008684http://purl.obolibrary.org/obo/MONDO_0000450
skos:prefLabel - "4p-็—‡ๅ€™็พค" + "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡" @ja
- - + - - - - - - + + - + - + + "Neuromyelitis optica" + @en + "ใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“" + @ja-Hira + + + + - + - + - - - - - - - - - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200963 +
http://nanbyodata.jp/ontology/NANDO_2201322 (rdf:type owl:Class @@ -159999,98 +220764,79 @@

hasNotificationNumber4
- dcterms:description - "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€18็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…3,500๏ฝž8,500ไบบใซ1ไบบใฎ้ ปๅบฆใง่ฆ‹ใ‚‰ใ‚Œใ€ๅฅณๅ…ใซๅคšใ„๏ผˆ็”ท๏ผšๅฅณ๏ผ๏ผ‘๏ผš๏ผ“๏ผ‰ใ€‚" - @jahasNotificationNumber59
dcterms:identifier2200963NANDO:2201322
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf
rdfs:label - "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" - @ja
rdfs:label - "Trisomy 18" - @en
+ rdfs:label + "่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž" + @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3532http://nanbyodata.jp/ontology/NANDO_1200027
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_012/https://www.shouman.jp/disease/details/11_36_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "18 trisomy syndrome" - @en
- skos:altLabel - "Chromosome 18 duplication" - @enhttp://nanbyodata.jp/ontology/NANDO_2200904
skos:altLabel - "Edwards syndrome" + "NMO" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010336
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018071http://purl.obolibrary.org/obo/MONDO_0019100
skos:prefLabel - "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" + "่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž" @ja
- - + - - - - - - + + - + - + + "other multiple sclerosis" + @en + "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰" + @ja-Hira + + + + - + - - - - - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200964 +
http://nanbyodata.jp/ontology/NANDO_2201323 (rdf:type owl:Class @@ -160098,178 +220844,125 @@

hasNotificationNumber3
- dcterms:description - "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€13็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…ใฎ5,000๏ฝž12,000ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber59
dcterms:identifier2200964NANDO:2201323
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf
rdfs:label - "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" - @ja
rdfs:label - "Trisomy 13" - @en
+ rdfs:label + "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆใใฎไป–๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_013/https://www.shouman.jp/disease/details/11_36_079/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "13 trisomy syndrome" - @en
- skos:altLabel - "Patau syndrome" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001333
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018068http://nanbyodata.jp/ontology/NANDO_2200904
skos:prefLabel - "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค" + "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆใใฎไป–๏ผ‰" @ja
- - + - - - - + - - + + - + - + - - - - + "ใ˜ใ‚…ใ‚“ใ™ใ„ใŒใ‚“ใใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200965 +
http://nanbyodata.jp/ontology/NANDO_2201324 (rdf:type owl:Class ) -
hasNotificationNumber5
- dcterms:description - "1866ๅนด Downใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ่จ˜่ฟฐใ•ใ‚ŒใŸใ€‚1959ๅนดLejeuneใ‚‰ใซใ‚ˆใ‚Šใ€ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พคใงใฏๆŸ“่‰ฒไฝ“ใŒ47ๆœฌใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€้Žๅ‰ฐๆŸ“่‰ฒไฝ“ใŒ21็•ชๆŸ“่‰ฒไฝ“ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็œผ็žผ่ฃ‚ๆ–œไธŠใƒป้ผปๆ น้ƒจๅนณๅฆใƒปๅ†…็œผ่ง’่ด…็šฎใƒป่ˆŒใฎ็ชๅ‡บ๏ผ‰ใ€ๆ‰‹ๆŽŒๅ˜ไธ€ๅฑˆๆ›ฒ็ทšใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“ๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใ™ใ‚‹" - @jahasNotificationNumber20
dcterms:identifier2200965NANDO:2201324
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_38_081_01.pdf
rdfs:label - "Down syndrome" + "Purely ocular myasthenia gravis" @en
rdfs:label - "ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1582
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01552 + rdfs:label + "็ด”็ฒ‹็œผ็ญ‹ๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_014/https://www.shouman.jp/disease/details/11_38_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Down็—‡ๅ€™็พค" - @ja
- skos:altLabel - "trisomy 21" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008608http://nanbyodata.jp/ontology/NANDO_2200906
skos:prefLabel - "ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค" + "็ด”็ฒ‹็œผ็ญ‹ๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" @ja
- - + - - - - - - + + - + - + + "latent general myasthenia gravis" + @en + "ใ›ใ‚“ใ–ใ„ใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200966 +
http://nanbyodata.jp/ontology/NANDO_2201325 (rdf:type owl:Class @@ -160277,69 +220970,62 @@

hasNotificationNumber7
- dcterms:description - "ๅธธๆŸ“่‰ฒไฝ“๏ผˆ1๏ฝž22็•ชๆŸ“่‰ฒไฝ“๏ผ‰ใฎๆ•ฐ็š„็•ฐๅธธใƒปๆง‹้€ ็•ฐๅธธใ‚‚ใ—ใใฏใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹้ƒจไฝใฎๅคงใใ•ใ‚„้‡่ค‡ใ‚‚ใ—ใใฏๆฌ ๅคฑใชใฉ็•ฐๅธธใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€็—‡็Šถใฎ็จ‹ๅบฆใฏ็•ฐใชใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200966NANDO:2201325
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_38_081_01.pdf
rdfs:label - "9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ" - @ja
rdfs:label - "Other Chromosomal abnormalities" - @en
+ rdfs:label + "ๆฝœๅœจๆ€งๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_015/https://www.shouman.jp/disease/details/11_38_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Autosome" - @enhttp://nanbyodata.jp/ontology/NANDO_2200906
skos:prefLabel - "9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ" + "ๆฝœๅœจๆ€งๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" @ja
- - + - - - - - - + + - + - - + + + "ใ›ใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira + "ๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" + @ja - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200967 +
http://nanbyodata.jp/ontology/NANDO_2201326 (rdf:type owl:Class @@ -160347,69 +221033,57 @@

hasNotificationNumber17
- dcterms:description - "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" - @jahasNotificationNumber20
dcterms:identifier2200967NANDO:2201326
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_016_01.pdf + rdfs:label + "generalized myasthenia gravis" + @en
rdfs:label - "CFC็—‡ๅ€™็พค" - @ja
rdfs:label - "Cardio-facio-cutaneuos syndrome" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_016/https://www.shouman.jp/disease/details/11_38_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "cardio-facio-cutaneous็—‡ๅ€™็พค" - @jahttp://nanbyodata.jp/ontology/NANDO_2200906
skos:prefLabel - "CFC็—‡ๅ€™็พค" + "ๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" @ja
- - + - - - - - - + + - + - + + "1ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira + "type I biliary atresia" + @en - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200968 +
http://nanbyodata.jp/ontology/NANDO_2201327 (rdf:type owl:Class @@ -160417,84 +221091,67 @@

hasNotificationNumber29
- dcterms:description - "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใŸใ™" - @jahasNotificationNumber16
dcterms:identifier2200968NANDO:2201327
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_017_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_023_01.pdf
rdfs:label - "Marfan syndrome" - @en
rdfs:label - "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=942 + rdfs:label + "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653http://nanbyodata.jp/ontology/NANDO_1200914
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_017/https://www.shouman.jp/disease/details/12_08_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Marfan็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007947http://nanbyodata.jp/ontology/NANDO_2200930
skos:prefLabel - "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค" + "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - + + - - + +
http://nanbyodata.jp/ontology/nando#2200969 +
http://nanbyodata.jp/ontology/NANDO_2201328 (rdf:type owl:Class @@ -160502,67 +221159,67 @@

hasNotificationNumber34
- dcterms:description - "ๅคงๅ‹•่„ˆ็—…ๅค‰ใ‚’ไธปใซใ€ๅฟƒ่ก€็ฎก็ณปใ€้ชจๆ ผ็ณปใ€็šฎ่†šไป–ใซใ‚‚็‰นๅพด็š„ใช็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€งใฎ้บไผๆ€ง็ตๅˆ็น”็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹ๅคงๅ‹•่„ˆใ€้ชจๆ ผ็—…ๅค‰ใ‚’ไธปๆ‰€่ฆ‹ใจใ™ใ‚‹ใŒใ€ๅฃ่“‹่ฃ‚ใƒปไบŒๅˆ†ๅฃ่“‹ๅž‚ใƒป็œผ้–“่งฃ้›ขใชใฉใฎ็‰นๅพด็š„ใช้ก”่ฒŒใ€ ๅ…จ่บซๅ‹•่„ˆใฎ่›‡่กŒใ€้ ญ่“‹้ชจๆ—ฉๆœŸ่žๅˆใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใ‚’ใ—ใฐใ—ใฐไผดใ†ใ€‚ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค๏ผˆ๏ผฌ๏ผค๏ผณ๏ผ‰ใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏใ€ ๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ‘ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ’ใ€๏ผณ๏ผญ๏ผก๏ผค๏ผ“ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ’ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ“ใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€2014ๅนดไปฅ้™ใฏๅŽŸๅ› ้บไผๅญใซใ‚ˆใฃใฆใ€ ใใ‚Œใžใ‚Œใ€๏ผฌ๏ผค๏ผณ๏ผ‘ใ€๏ผฌ๏ผค๏ผณ๏ผ’ใ€๏ผฌ๏ผค๏ผณ๏ผ“ใ€๏ผฌ๏ผค๏ผณ๏ผ”ใ€๏ผฌ๏ผค๏ผณ๏ผ•ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใซใฏๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ‚’ไผดใ‚ใชใ„ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค๏ผˆ๏ผ’ๅž‹๏ผ‰ ใจๅ‘ผใฐใ‚ŒใŸใ‚‚ใฎใ‚‚ๅซใฟใ€ใ—ใฐใ—ใฐใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚" - @jahasNotificationNumber16
dcterms:identifier2200969NANDO:2201328
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_018_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_023_01.pdf
rdfs:label - "Loeys-Dietz syndrome" + "1ใ—ใ™ใจใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "type I cystic biliary atresia" @en
rdfs:label - "ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค" + "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_018/http://nanbyodata.jp/ontology/NANDO_1200915
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/12_08_023/
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018954 + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2200930
skos:prefLabel - "ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค" + "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - - - - - + + - + - + + "2ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200970 +
http://nanbyodata.jp/ontology/NANDO_2201329 (rdf:type owl:Class @@ -160570,72 +221227,67 @@

hasNotificationNumber12
- dcterms:description - "้ ญ่“‹้ชจใƒปไธŠ่…•้ชจใƒปๅคง่…ฟ้ชจใƒป่„›้ชจใƒป่…“้ชจ็ญ‰ใฎ้Žๅ‰ฐใช่†œๅ†…้ชจๅŒ–ใซใ‚ˆใ‚‹้ชจ็šฎ่ณชใฎ่‚ฅๅŽšใจ้•ท็ฎก้ชจ้ชจๅนน้ƒจใฎ็ดก้Œ˜ๅฝข่‚ฅๅคงใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ ๅ››่‚ข็—›ใ‚’็‰นๅพดใจใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง้ชจๅนน็•ฐๅฝขๆˆ็—‡๏ผˆProgressive Diaphyseal Dysplasia๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใฎ็—‡็Šถใฏๅนผๅ…ๆœŸใจ้’ๅนดๆˆไบบๆœŸใง็•ฐใชใ‚‹ใ€‚ ๅนผๅ…ๆœŸใฏใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆ˜“็–ฒๅŠดๆ€งใ‚’ไธปๅพดใจใ—ใ€้’ๅนดๆˆไบบๆœŸใฏใ€้ชจๅนนใฎ็–ผ็—›ใ€ใ‚ใพใ„ใ€้›ฃ่ดใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚" - @jahasNotificationNumber16
dcterms:identifier2200970NANDO:2201329
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_019_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_023_01.pdf
rdfs:label - "Camurati-Engelmann disease" - @en
rdfs:label - "ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค" + "IIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
+ rdfs:label + "type II biliary atresia" + @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6384http://nanbyodata.jp/ontology/NANDO_1200916
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_019/https://www.shouman.jp/disease/details/12_08_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007542http://nanbyodata.jp/ontology/NANDO_2200930
skos:prefLabel - "ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค" + "IIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - - - - - + + - + - + + "3ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200971 +
http://nanbyodata.jp/ontology/NANDO_2201330 (rdf:type owl:Class @@ -160643,84 +221295,67 @@

hasNotificationNumber13
- dcterms:description - "ๅ…ˆๅคฉ็š„ใช๏ผจ๏ผฒ๏ผก๏ผณ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚" - @jahasNotificationNumber16
dcterms:identifier2200971NANDO:2201330
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_020_01.pdfhttps://www.shouman.jp/archives/doc/doc_12_08_023_01.pdf
rdfs:label - "Costello syndrome" - @en
rdfs:label - "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" + "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2004 + rdfs:label + "type III biliary atresia" + @en
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01747http://nanbyodata.jp/ontology/NANDO_1200917
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_020/https://www.shouman.jp/disease/details/12_08_023/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Costello็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009026http://nanbyodata.jp/ontology/NANDO_2200930
skos:prefLabel - "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค" + "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡" @ja
- - + - - - - - - + + - + - + - - - - + "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200972 +
http://nanbyodata.jp/ontology/NANDO_2201331 (rdf:type owl:Class @@ -160728,84 +221363,62 @@

hasNotificationNumber24
- dcterms:description - "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ…20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”ใฎ้…ใ‚Œใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200972NANDO:2201331
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_021_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_024_01.pdf
rdfs:label - "CHARGE syndrome" + "Antley-Bixler syndrome (sagittal synostosis)" @en
rdfs:label - "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1942
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00556 + rdfs:label + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_021/https://www.shouman.jp/disease/details/13_01_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "CHARGE็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008965http://nanbyodata.jp/ontology/NANDO_2200975
skos:prefLabel - "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค" + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200973 +
http://nanbyodata.jp/ontology/NANDO_2201332 (rdf:type owl:Class @@ -160813,86 +221426,62 @@

hasNotificationNumber25
- dcterms:description - "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๅฐ้กŽ็—‡ใƒป็‹ญใ„้ผปๅ ค๏ผ‰ใ€ๅ‡่กกๅž‹ไฝŽ่บซ้•ทใ€็–Žใชๆฏ›้ซชใ€ๅฐ็œผ็ƒ็—‡ใ‚„ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœ็ญ‰ใฎ็œผ็—‡็Šถใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใ€‚็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค๏ผˆoculo-mandibulo-facial syndrome๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200973NANDO:2201332
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_022_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_024_01.pdf
rdfs:label - "Hallermann-Streiff syndrome" + "Antley-Bixler syndrome (coronal synostosis)" @en
rdfs:label - "ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2307 + rdfs:label + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_022/https://www.shouman.jp/disease/details/13_01_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "HSS" - @en
- skos:altLabel - "Hallermann-Streiff-Francois syndrome" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009318http://nanbyodata.jp/ontology/NANDO_2200975
skos:prefLabel - "ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค" + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200974 +
http://nanbyodata.jp/ontology/NANDO_2201333 (rdf:type owl:Class @@ -160900,84 +221489,62 @@

hasNotificationNumber18
- dcterms:description - "่‰ฒ็ด ๅคฑ่ชฟ็—‡ใฏใ€็šฎ่†šใ€้ซชใ€ๆญฏใ€็ˆชใ€็›ฎใ€ไธญๆžข็ฅž็ตŒใซ็—‡็ŠถใŒ็พใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช็šฎ่†š็—…ๅค‰ใฏใ€ๆฌกใฎ4ๆฎต้šŽใง้€ฒ่กŒใ™ใ‚‹ใ€‚ ็ฌฌ1ๆœŸใ€€ๆฐด็–ฑๆœŸ๏ผˆๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰4ใƒถๆœˆใพใง๏ผ‰ใ€็ฌฌ2ๆœŸใ€€็–ฃ็Šถ็™บ็–นๆœŸ๏ผˆๆ•ฐใƒถๆœˆ๏ผ‰ใ€็ฌฌ3ๆœŸใ€€ๆธฆๅทป็Šถ่‰ฒ็ด ๆฒˆ็€ๆœŸ๏ผˆ็”ŸๅพŒ6ใƒถๆœˆใ‹ใ‚‰ๆˆไบบใพใง๏ผ‰ใ€ ็ฌฌ4ๆœŸใ€€็ทš็Šถ่‰ฒ็ด ๆถˆ้€€ๆœŸใงใ‚ใ‚‹ใ€‚่„ฑๆฏ›ใ€ๆญฏ็‰™ๆฌ ๆใ€ๆญฏ็‰™ๅฝขๆ…‹็•ฐๅธธใ€็ˆชใฎๆ „้คŠ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็ถฒ่†œใฎ่ก€็ฎกๆ–ฐ็”ŸใŒไธ€้ƒจใฎ็ฝนๆ‚ฃ่€…ใซ่ฆ‹ใ‚‰ใ‚Œใ€ ็ถฒ่†œๅ‰ฅ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚็ฅž็ตŒใซใŠใ‘ใ‚‹ๆ‰€่ฆ‹ใงใฏ่ช็Ÿฅ่ƒฝๅŠ›ใฎ้…ใ‚Œใ€็Ÿฅ็š„้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200974NANDO:2201333
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_023_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_024_01.pdf
rdfs:label - "Incontinentia Pigmenti" + "Antley-Bixler syndrome (lambdoid synostosis)" @en
rdfs:label - "่‰ฒ็ด ๅคฑ่ชฟ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3455
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00645 + rdfs:label + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_023/https://www.shouman.jp/disease/details/13_01_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Bloch-Sulzberger Syndrome" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010631http://nanbyodata.jp/ontology/NANDO_2200975
skos:prefLabel - "่‰ฒ็ด ๅคฑ่ชฟ็—‡" + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" @ja
- - + - + - - - - - + - - - - + "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200975 +
http://nanbyodata.jp/ontology/NANDO_2201334 (rdf:type owl:Class @@ -160985,20 +221552,13 @@

hasNotificationNumberhasNotificationNumber 8
- dcterms:description - "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚" - @ja
dcterms:identifier2200975NANDO:2201334
@@ -161009,25 +221569,22 @@

rdfs:label - "Antley-Bixler Syndrome" + "Antley-Bixler syndrome (metopic synostosis)" @en
rdfs:label - "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1773
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01753 + rdfs:label + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" + @ja
@@ -161037,32 +221594,20 @@

rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Antley-Bixler็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008803http://nanbyodata.jp/ontology/NANDO_2200975
skos:prefLabel - "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค" + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200976 +
http://nanbyodata.jp/ontology/NANDO_2201335 (rdf:type owl:Class @@ -161070,89 +221615,62 @@

hasNotificationNumber27
- dcterms:description - "FGFR2้บไผๅญ๏ผˆๆ™‚ใซFGFR1้บไผๅญ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅ…ˆๅคฉ็š„ใช้ ญ่“‹้ชจใ‚„้ก”้ข้ชจ๏ผˆๅŸบๆœฌ็š„ใซไธ‹้กŽใ‚’้™คใ๏ผ‰ใฎๅฝขๆˆ็•ฐๅธธใŒใŠใ“ใ‚Šใ€่„ณใฎ็™บ้”ใŒๅฆจใ’ใ‚‰ใ‚ŒใŸใ‚Šใ€็œผ็ƒใŒ็ชๅ‡บใ—ใŸใ‚Šใ€ๅ‘ผๅธใŒ้šœๅฎณใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใ€‚ใพใŸๆ‰‹ใŠใ‚ˆใณ่ถณใฎๆŒ‡ใŒไบ’ใ„ใซ็™’ๅˆใ—ใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber8
dcterms:identifier2200976NANDO:2201335
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_025_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_024_01.pdf
rdfs:label - "Pfeiffer syndrome" + "Antley-Bixler syndrome (squamosal synostosis)" @en
rdfs:label - "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=14
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01756 + rdfs:label + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_025/https://www.shouman.jp/disease/details/13_01_024/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Pfeiffer็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005810
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007043http://nanbyodata.jp/ontology/NANDO_2200975
skos:prefLabel - "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค" + "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200977 +
http://nanbyodata.jp/ontology/NANDO_2201336 (rdf:type owl:Class @@ -161160,89 +221678,62 @@

hasNotificationNumber14
- dcterms:description - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200977NANDO:2201336
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_026_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf
rdfs:label - "Coffin-Siris syndrome" + "Pfeiffer syndrome (sagittal synostosis)" @en
rdfs:label - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=606
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01403 + rdfs:label + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_026/https://www.shouman.jp/disease/details/13_01_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Coffin-Siris็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007617
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015452http://nanbyodata.jp/ontology/NANDO_2200976
skos:prefLabel - "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค" + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200978 +
http://nanbyodata.jp/ontology/NANDO_2201337 (rdf:type owl:Class @@ -161250,79 +221741,62 @@

hasNotificationNumber19
- dcterms:description - "Simpson-Golabi-Behmel ็—‡ๅ€™็พค๏ผˆSGS๏ผ‰ใฏใ€ ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใจ็‰น็•ฐ้ก”่ฒŒใ€ๅคš็™บๅฅ‡ๅฝขใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๅคš็™บๅฅ‡ๅฝขใฏใ€ๅคšๆŒ‡ใ€็ˆชใฎไฝŽๅฝขๆˆใ€ๅฃ่“‹่ฃ‚ใ€ๅฟƒๅฅ‡ๅฝขใ€ๅ‰ฏไนณใ€้ผ ๅพ„ใƒ˜ใƒซใƒ‹ใ‚ขใชใฉใ‚’ไผดใ†ใ€‚็Ÿฅ่ƒฝใฏไธ€่ˆฌใซๆญฃๅธธใ€‚ใพใŸใ€Wilms ่…ซ็˜ใ€่‚่Šฝ่…ซใชใฉใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200978NANDO:2201337
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_027_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf
rdfs:label - "Simpson-Golabi-Behmel syndrome" + "Pfeiffer syndrome (coronal synostosis)" @en
rdfs:label - "ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3564 + rdfs:label + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_027/https://www.shouman.jp/disease/details/13_01_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Simpson-Golabi-Behmel็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010731http://nanbyodata.jp/ontology/NANDO_2200976
skos:prefLabel - "ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค" + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200979 +
http://nanbyodata.jp/ontology/NANDO_2201338 (rdf:type owl:Class @@ -161330,84 +221804,62 @@

hasNotificationNumber21
- dcterms:description - "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พคใฏใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅˆๆˆใฎๆœ€็ต‚ๆฎต้šŽใงใ‚ใ‚‹7-ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ้‚„ๅ…ƒ้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹DHCR7้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใฎไฝŽไธ‹ใฏ็ดฐ่ƒž่†œใฎๆง‹ๆˆใ‚„ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎ็•ฐๅธธใ‚’ใใŸใ—ใ€ๅ…จ่บซๆ€งใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆๆˆ้•ท้šœๅฎณใ€ๅฐ้ ญ็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅค–ๆ€งๅ™จ็•ฐๅธธ๏ผˆ็”ทๅ…๏ผ‰ใ€ๅˆ่ถพ็ญ‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‹ใ‚‰็”Ÿๆˆใ•ใ‚Œใ‚‹ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณใ‚„ๆ€งใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใฎใŸใ‚ใ€ไบŒๆฌก็š„ใชๅ‰ฏ่…Žใƒปๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚Šใ€่ฃœๅ……็™‚ๆณ•ใ‚’่ฆใ™ใ‚‹ใ€‚้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚Šใ€ๆˆไบบๅพŒใ‚‚่ปฝๅฟซใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200979NANDO:2201338
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_028_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf
rdfs:label - "Smith-Lemli-Opitz syndrome" + "Pfeiffer syndrome (lambdoid synostosis)" @en
rdfs:label - "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3017
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00161 + rdfs:label + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_028/https://www.shouman.jp/disease/details/13_01_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Smith-Lemli-Opitz็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010035http://nanbyodata.jp/ontology/NANDO_2200976
skos:prefLabel - "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค" + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + - - - - + "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200980 +
http://nanbyodata.jp/ontology/NANDO_2201339 (rdf:type owl:Class @@ -161415,84 +221867,62 @@

hasNotificationNumber30
- dcterms:description - "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200980NANDO:2201339
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_029_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf
rdfs:label - "Moebius syndrome" + "Pfeiffer syndrome (metopic synostosis)" @en
rdfs:label - "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=997
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01840 + rdfs:label + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_029/https://www.shouman.jp/disease/details/13_01_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Moebius็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008006http://nanbyodata.jp/ontology/NANDO_2200976
skos:prefLabel - "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค" + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰" + @ja-Hira - - + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2200981 +
http://nanbyodata.jp/ontology/NANDO_2201340 (rdf:type owl:Class @@ -161500,79 +221930,62 @@

hasNotificationNumber31
- dcterms:description - "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber27
dcterms:identifier2200981NANDO:2201340
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_030_01.pdfhttps://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf
rdfs:label - "Mowat-Wilson syndrome" + "Pfeiffer syndrome (squamosal synostosis)" @en
rdfs:label - "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2328 + rdfs:label + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_030/https://www.shouman.jp/disease/details/13_01_025/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:altLabel - "Mowat-Wilson็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009341http://nanbyodata.jp/ontology/NANDO_2200976
skos:prefLabel - "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰" @ja
- - + - - - - - - + + - - - - - + + "ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + "EBS" + @en - - + + - +
http://nanbyodata.jp/ontology/nando#2200982 +
http://nanbyodata.jp/ontology/NANDO_2201341 (rdf:type owl:Class @@ -161580,89 +221993,81 @@

hasNotificationNumber32
- dcterms:description - "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2200982
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_031_01.pdfNANDO:2201341
rdfs:label - "Young-Simpson syndrome" + "Epidermolysis bullosa simplex" @en
rdfs:label - "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4182 + rdfs:label + "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01793http://nanbyodata.jp/ontology/NANDO_1200235
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_031/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280http://nanbyodata.jp/ontology/NANDO_2201000
skos:altLabel - "Young-Simpson็—‡ๅ€™็พค" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0011365 + skos:altLabel + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017393http://purl.obolibrary.org/obo/MONDO_0017610
skos:prefLabel - "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค" + "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - - + + + "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200983 +
http://nanbyodata.jp/ontology/NANDO_2201342 (rdf:type owl:Class @@ -161670,72 +222075,81 @@

hasNotificationNumber26
- dcterms:description - "VATER ็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ•ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER ็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2200983NANDO:2201342
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_032_01.pdf + rdfs:label + "Junctional epidermolysis bullosa" + @en
rdfs:label - "VATER syndrome" - @en
rdfs:label - "VATER็—‡ๅ€™็พค" + "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1613http://nanbyodata.jp/ontology/NANDO_1200236
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_032/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280http://nanbyodata.jp/ontology/NANDO_2201000
+ skos:altLabel + "JEB" + @en
+ skos:altLabel + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008642http://purl.obolibrary.org/obo/MONDO_0017612
skos:prefLabel - "VATER็—‡ๅ€™็พค" + "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - - + + + "ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200984 +
http://nanbyodata.jp/ontology/NANDO_2201343 (rdf:type owl:Class @@ -161743,72 +222157,74 @@

hasNotificationNumber10
- dcterms:description - "ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้€ฒ่กŒๆ€ง็—™ๆ€ง้šœๅฎณใ€ๅๅพฉๆ€งๆ„ŸๆŸ“็—‡๏ผˆๅ‘ผๅธๅ™จใ‚„ๅฐฟ่ทฏใชใฉ๏ผ‰ใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใŒใชใ„ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใจ็™‚่‚ฒใซ้ ผใ‚‰ใ–ใ‚‹ใ‚’ๅพ—ใชใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅˆไฝตใŒ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰่ตทใ“ใ‚‹ๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใ‚’ใฏใ˜ใ‚ใจใ—ใŸใ•ใพใ–ใพใชๆ„ŸๆŸ“็—‡ใฏๆ—ฅๅธธ็”Ÿๆดปใ‚’่‘—ใ—ใๅˆถ้™ใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ๆ„ŸๆŸ“็—‡ใ‚„ๆถˆๅŒ–ๅ™จ็—‡็Šถใซๅฏพใ™ใ‚‹ๅฏพ็—‡็™‚ๆณ•ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™ๆ„ŸๆŸ“็—‡ใŒ็”Ÿๅ‘ฝไบˆๅพŒใซ้–ข้€ฃใ™ใ‚‹ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2200984NANDO:2201343
- dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_033_01.pdf + rdfs:label + "Dystrophic epidermolysis bullosa" + @en
rdfs:label - "MECP2 duplication syndrome" - @en
rdfs:label - "MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค" + "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3273https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00587
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_033/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280http://nanbyodata.jp/ontology/NANDO_2201000
+ skos:altLabel + "DEB" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010283http://purl.obolibrary.org/obo/MONDO_0017608
skos:prefLabel - "MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค" + "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - + + "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200985 +
http://nanbyodata.jp/ontology/NANDO_2201344 (rdf:type owl:Class @@ -161816,72 +222232,62 @@

hasNotificationNumber23
- dcterms:description - "ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟไฝŽไธ‹็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€ๅฑˆๆŒ‡ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็‰นๅพด็š„้ก”่ฒŒใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€้ƒจใฎๆ‚ฃ่€…ใซใฏใ€็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใ€ๅๅพฉๆ„ŸๆŸ“็—‡ใ€ใƒชใƒณใƒ‘ๆตฎ่…ซใ€ใ‚’่ชใ‚ใ‚‹ใ€‚CDC42้บไผๅญใซใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๆ–ฐ็”Ÿ็ช็„ถๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚CDC42ใฏใ€็ดฐ่ƒžๅ‘จๆœŸใฎ่ชฟ็ฏ€ใ‚„็ดฐ่ƒž้ชจๆ ผใฎๅฝขๆˆ็ถญๆŒใซ้‡่ฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅคšๅฝฉใช็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใฏใ€ๅฐๅ…ๆœŸไปฅ้™ใ‚‚่ปฝๅฟซใ›ใšใ€ๆˆไบบๆœŸไปฅ้™ใ‚‚ๆŒ็ถšใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๆญฆๅ†…ใŠใ‚ˆใณๅฐๅดŽใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2200985NANDO:2201344
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_13_01_034_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "Takenouchi-Kosaki syndrome" + "Other epidermolysis bullosa" @en
rdfs:label - "ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=9077 + rdfs:label + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/13_01_034/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100280
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0014757http://nanbyodata.jp/ontology/NANDO_2201000
skos:prefLabel - "ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค" + "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200986 +
http://nanbyodata.jp/ontology/NANDO_2201345 (rdf:type owl:Class @@ -161889,86 +222295,96 @@

hasNotificationNumber1
- dcterms:description - "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆoculocutaneous albinism; OCA ๏ผ‰ใฏใ€ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ใฏๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใงใ‚ใ‚Šใ€้’๏ฝž็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€็™ฝ๏ฝž่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็œผใฎ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็šฎ่†š็—‡็ŠถใŒๅˆค็„ถใจใ›ใšใ€็œผใฎ็—‡็Šถใฎใฟใฎใ‚‚ใฎใฏ็œผ็™ฝ็šฎ็—‡๏ผˆocular albinism๏ผ›OA๏ผ‰ใจใ„ใ†ใ€‚ๅ…จใฆใฎOCAใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚OAใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’็—‡ๅ€™ๅž‹๏ผˆsyndromic albinism๏ผ‰ใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ็—‡ๅ€™ๅž‹ใซใฏใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’็คบใ™Hermansky-Pudlak syndrome๏ผˆHPS๏ผ‰, ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใจๅ…็–ซไธๅ…จใ‚’ไผดใ†Chรฉdiak-Higashi syndrome๏ผˆCHS๏ผ‰, CHSใซ่‡จๅบŠ็—‡็Šถใฏ้กžไผผใ™ใ‚‹ใŒ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใ‚’ๆŒใŸใชใ„Griscelli syndrome๏ผˆGS๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ใจใ‚‚ใชใ‚ใชใ„ใ‚ฟใ‚คใƒ—ใ‚’้ž็—‡ๅ€™ๅž‹๏ผˆnon-syndromic albinism๏ผ‰ใจๅ‘ผใถใ€‚้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ7็จฎ้กžใ€็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ13็จฎ้กžใ€่จˆ20็จฎ้กžใฎๅŽŸๅ› ้บไผๅญ๏ผˆ้บไผๅญๅบงใ‚’ๅซใ‚€๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1๏ผ‰ใ€‚่กจ๏ผ‘๏ผŽ็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎ็—…ๅ› ้บไผๅญใซใ‚ˆใ‚‹ๅˆ†้กž" - @jahasNotificationNumber14
dcterms:identifier2200986NANDO:2201345
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "oculocutaneous albinism" + "Achondrogenesis type 2" @en
rdfs:label - "็œผ็šฎ่†š็™ฝ็šฎ็—‡" + "ใชใ‚“ใ“ใคใ‚€ใฏใฃใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ" + @ja-Hira
+ rdfs:label + "่ปŸ้ชจ็„ก็™บ็”Ÿ็—‡๏ผ’ๅž‹" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00168http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1670
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_01_001/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1671
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100282http://nanbyodata.jp/ontology/NANDO_2201016
skos:altLabel - "OCA" + "ACG2" @en
skos:altLabel - "ๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡" + "Langer-Saldinoๅž‹" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018910http://purl.obolibrary.org/obo/MONDO_0008702
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008703
skos:prefLabel - "็œผ็šฎ่†š็™ฝ็šฎ็—‡" + "่ปŸ้ชจ็„ก็™บ็”Ÿ็—‡๏ผ’ๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2200987 +
http://nanbyodata.jp/ontology/NANDO_2201346 (rdf:type owl:Class @@ -161976,74 +222392,84 @@

hasNotificationNumber4
- dcterms:description - "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใซใฏ็†ฑๅ‚ทใ‚’ๆ€ใ‚ใ›ใ‚‹ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใ€็ด…็šฎ็—‡ใŒใฟใ‚‰ใ‚Œใ€ใใฎๅพŒใ‚‚ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใ‚’ไธญๅฟƒใซๅผ›็ทฉๆ€งๆฐด็–ฑใจๆต…ใ„ใณใ‚‰ใ‚“ใฎๅฝขๆˆใŒๅๅพฉใ™ใ‚‹[1]-[3]ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200987NANDO:2201346
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "keratinopathic ichthyosis" + "Hypochondrogenesis " @en
rdfs:label - "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" + "ใชใ‚“ใ“ใคใฆใ„ใฏใฃใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่ปŸ้ชจไฝŽ็™บ็”Ÿ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_002/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1671
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100283http://nanbyodata.jp/ontology/NANDO_2201016
skos:altLabel - "epidermolytic ichthyosis and superficial epidermolytic ichthyos" + "HCG" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017266http://purl.obolibrary.org/obo/MONDO_0008703
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019669
skos:prefLabel - "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ" + "่ปŸ้ชจไฝŽ็™บ็”Ÿ็—‡" @ja
- - + - - + + - + - + + + + + - + - + - - - - - + - +
http://nanbyodata.jp/ontology/nando#2200988 +
http://nanbyodata.jp/ontology/NANDO_2201347 (rdf:type owl:Class @@ -162051,70 +222477,72 @@

hasNotificationNumber4hasNotificationNumber14
dcterms:identifier2200988NANDO:2201347
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "Autosomal dominant epidermolytic ichthyosis" + "Platyspondylic dysplasia, Torrance type" @en
rdfs:label - "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€ง๏ผ‰" + "ใธใ‚“ใบใ„ใคใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใจใƒผใ‚‰ใ‚“ใ™ใŒใŸ" + @ja-Hira
+ rdfs:label + "ๆ‰ๅนณๆคŽ็•ฐๅฝขๆˆ็—‡ Torranceๅž‹" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=212http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=885
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_002/https://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200987
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007239http://nanbyodata.jp/ontology/NANDO_2201016
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0020702http://purl.obolibrary.org/obo/MONDO_0007895
skos:prefLabel - "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€ง๏ผ‰" + "ๆ‰ๅนณๆคŽ็•ฐๅฝขๆˆ็—‡ Torranceๅž‹" @ja
- - + - - + + - + - + + + + + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200989 +
http://nanbyodata.jp/ontology/NANDO_2201348 (rdf:type owl:Class @@ -162122,60 +222550,84 @@

hasNotificationNumber4hasNotificationNumber14
dcterms:identifier2200989NANDO:2201348
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "Autosomal recessive epidermolytic ichthyosis" + "Spondyloepiphyseal dysplasia congenita" @en
rdfs:label - "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅŠฃๆ€ง๏ผ‰" + "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅ…ˆๅคฉๆ€ง่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_002/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1448
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00519
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200987http://nanbyodata.jp/ontology/NANDO_2201016
+ skos:altLabel + "SEDC" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0044742http://purl.obolibrary.org/obo/MONDO_0008471
skos:prefLabel - "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅŠฃๆ€ง๏ผ‰" + "ๅ…ˆๅคฉๆ€ง่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2200990 +
http://nanbyodata.jp/ontology/NANDO_2201349 (rdf:type owl:Class @@ -162183,55 +222635,79 @@

hasNotificationNumber4hasNotificationNumber14
dcterms:identifier2200990NANDO:2201349
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "superficial epidermolytic ichthyos" + "Spondyloepimetaphyseal dysplasia, Strudwick type" @en
rdfs:label - "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใ™ใจใ‚‰ใฉใ†ใƒใฃใใŒใŸ" + @ja-Hira
+ rdfs:label + "่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ Strudwickๅž‹" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_002/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1453
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200987http://nanbyodata.jp/ontology/NANDO_2201016
+ skos:altLabel + "SEMD-S" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008476
skos:prefLabel - "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ" + "่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ Strudwickๅž‹" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2200991 +
http://nanbyodata.jp/ontology/NANDO_2201350 (rdf:type owl:Class @@ -162239,67 +222715,77 @@

hasNotificationNumber6
- dcterms:description - "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใŒใ€ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใฏไผดใ‚ใชใ„ใ€‚ใ“ใฎ็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ้กžไผผใ—ใŸ่‡จๅบŠ็—‡็Šถใจ้บไผๅญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใ‚’ใพใจใ‚ใŸๆฆ‚ๅฟตใงใ‚ใ‚‹ใŸใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ[1][2]ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200991NANDO:2201350
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "autosomal recessive congenital ichthyosis" + "Kniest dysplasia" @en
rdfs:label - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" + "Kniest็•ฐๅฝขๆˆ็—‡" @ja
+ rdfs:label + "ใใซใƒผใ™ใจใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_003/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=974
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02070
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100283http://nanbyodata.jp/ontology/NANDO_2201016
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017265http://purl.obolibrary.org/obo/MONDO_0007987
skos:prefLabel - "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ" + "Kniest็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + - - - - + "ใ›ใใคใ„ใพใฃใ—ใ‚‡ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2200992 +
http://nanbyodata.jp/ontology/NANDO_2201351 (rdf:type owl:Class @@ -162307,77 +222793,62 @@

hasNotificationNumber7
- dcterms:description - "ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€ๅ‡บ็”Ÿๆ™‚ใซใฏใ€ใ™ใงใซๅ…จ่บซใŒๅŽšใ„ๆฟ็Šถใฎ่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†šใฎๆทฑใ„ไบ€่ฃ‚ใ€็œผ็žผๅค–ๅใ€ๅฃๅ”‡ใฎ็ชๅ‡บใƒป้–‹ๅฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใฎ้ญš้ฑ—็™ฌใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹[1][2]ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200992NANDO:2201351
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "harlequin ichthyosis" + "Spondyloperipheral dysplasia" @en
rdfs:label - "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2433
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00733 + rdfs:label + "่„ŠๆคŽๆœซๆขข็•ฐๅฝขๆˆ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_004/https://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100283
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009443http://nanbyodata.jp/ontology/NANDO_2201016
skos:prefLabel - "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ" + "่„ŠๆคŽๆœซๆขข็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใใ†ใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‘ใ„ใ—ใ‚‡ใ†ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + "Mild SED with premature-onset arthrosis" + @en - +
http://nanbyodata.jp/ontology/nando#2200993 +
http://nanbyodata.jp/ontology/NANDO_2201352 (rdf:type owl:Class @@ -162385,84 +222856,79 @@

hasNotificationNumber8
- dcterms:description - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๆฏ›้ซชใฎ็•ฐๅธธใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็–พๆ‚ฃใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1]ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200993NANDO:2201352
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "Netherton syndrome" + "Mild spondyloepiphyseal dysplasia with premature-onset arthrosis" @en
rdfs:label - "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2721 + rdfs:label + "ๆ—ฉ็™บๆ€ง้–ข็ฏ€็—‡ใ‚’ไผดใ†่ปฝ็—‡่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00671http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=4296
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_005/https://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100283http://nanbyodata.jp/ontology/NANDO_2201016
skos:altLabel - "Netherton็—‡ๅ€™็พค" - @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009735http://purl.obolibrary.org/obo/MONDO_0011496
skos:prefLabel - "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค" + "ๆ—ฉ็™บๆ€ง้–ข็ฏ€็—‡ใ‚’ไผดใ†่ปฝ็—‡่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใกใ‚…ใ†ใใใ“ใคใŸใ‚“ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200994 +
http://nanbyodata.jp/ontology/NANDO_2201353 (rdf:type owl:Class @@ -162470,91 +222936,93 @@

hasNotificationNumber5
- dcterms:description - "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซใ€ๅ››่‚ขใฎ็—™ๆ€ง้บป็—บใ€ใชใ‚‰ใณใซ็ฒพ็ฅž้…ๆปžใ‚’ๅˆไฝตใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1][2]ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200994NANDO:2201353
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "Sjogren-Larsson syndrome" + "Spondyloepiphyseal dysplasia with metatarsal shortening" @en
rdfs:label - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3013 + rdfs:label + "ไธญ่ถณ้ชจ็Ÿญ็ธฎใ‚’ไผดใ†่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00162http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=6483
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_006/https://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100283http://nanbyodata.jp/ontology/NANDO_2201016
skos:altLabel - "Sjogren-Larsson็—‡ๅ€™็พค" + "Czech dysplasia" + @en
+ skos:altLabel + "Czech็•ฐๅฝขๆˆ็—‡" @ja
skos:altLabel - "Sjรถgren-Larsson syndrome" + "SED with metatarsal shortening" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010031http://purl.obolibrary.org/obo/MONDO_0012206
skos:prefLabel - "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค" + "ไธญ่ถณ้ชจ็Ÿญ็ธฎใ‚’ไผดใ†่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + + "ใ™ใฆใƒใฃใใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“1ใŒใŸ" + @ja-Hira - + + + + + - + + + + +
http://nanbyodata.jp/ontology/nando#2200995 +
http://nanbyodata.jp/ontology/NANDO_2201354 (rdf:type owl:Class @@ -162562,62 +223030,72 @@

hasNotificationNumber9
- dcterms:description - "ๅ…จ่บซ็šฎ่†šใซๆง˜ใ€…ใชๅŽšใ•ใฎ้ฑ—ๅฑ‘ใ€้ญš้ฑ—็™ฌใ‚’็”Ÿใ˜ใ‚‹้บไผๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ใ€‚็šฎ่†šใฎ็™บ่ตค(ๆฝฎ็ด…ใ€็ด…็šฎ็—‡)ใฎ็จ‹ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎไธปใชใ‚‚ใฎใซใฏใ€5.Netherton็—‡ๅ€™็พคใ€‘ใ€ใ€6.Sjรถgren-Larsson็—‡ๅ€™็พคใ€‘ไปฅๅค–ใฎ้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฏใ€้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๅŠ ใˆใฆๆง˜ใ€…ใชไป–่‡“ๅ™จ็—‡็Šถใ‚’ไผดใ†ใ‚‚ใฎใงใ‚ใ‚Šใ€็šฎ่†š็ง‘็š„ใชๆฒป็™‚ใซๅŠ ใˆใ€ๅˆไฝตใ™ใ‚‹่‡“ๅ™จ็—‡็Šถใซๅฟœใ˜ใฆๅฐๅ…็ง‘ใ€็œผ็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€็ฒพ็ฅž็ง‘ใชใฉใฎๅฐ‚้–€้ ˜ๅŸŸใงใฎๅฏพๅฟœใ‚‚ๅฟ…่ฆใจใชใ‚‹ใ€‚ใ€€ไปฃ่กจ็š„ใชใ‚‚ใฎใจใ—ใฆใ€KID็—‡ๅ€™็พคใ€Dorfman-Chanarin็—‡ๅ€™็พคใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚KID็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€Dorfman-Chanarin็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹[1]-[5]ใ€‚" - @jahasNotificationNumber14
dcterms:identifier2200995NANDO:2201354
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" + "Stickler syndrome type 1" + @en
+ rdfs:label + "Stickler็—‡ๅ€™็พค๏ผ‘ๅž‹" @ja
rdfs:label - "Other congenital ichthyoses" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=135
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100283http://nanbyodata.jp/ontology/NANDO_2201016
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007160
skos:prefLabel - "2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ" + "Stickler็—‡ๅ€™็พค๏ผ‘ๅž‹" @ja
- - + - - + + - + - + + + + + + "ใ™ใฆใƒใฃใใ‚‰ใƒผใ‚ˆใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - +
http://nanbyodata.jp/ontology/nando#2200996 +
http://nanbyodata.jp/ontology/NANDO_2201355 (rdf:type owl:Class @@ -162625,55 +223103,62 @@

hasNotificationNumber9hasNotificationNumber14
dcterms:identifier2200996NANDO:2201355
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label - "KID็—‡ๅ€™็พค" + "Stickler-like syndrome" + @en
+ rdfs:label + "Sticklerๆง˜็—‡ๅ€™็พค" @ja
rdfs:label - "keratitis-ichthyosis-deafness syndrome" - @en
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/https://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200995http://nanbyodata.jp/ontology/NANDO_2201016
skos:prefLabel - "KID็—‡ๅ€™็พค" + "Sticklerๆง˜็—‡ๅ€™็พค" @ja
- - + - - + + - + - + + + + + - + - + - + - - + + - +
http://nanbyodata.jp/ontology/nando#2200997 +
http://nanbyodata.jp/ontology/NANDO_2201356 (rdf:type owl:Class @@ -162681,77 +223166,86 @@

hasNotificationNumber9hasNotificationNumber10
dcterms:identifier2200997NANDO:2201356
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "Dorfman-Chanarin syndrome" + "X-linked recessive brachytelephalangic chondrodysplasia punctata" @en
rdfs:label - "Dorfman-Chanarin็—‡ๅ€™็พค" + "X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
+ rdfs:label + "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ‚Œใฃใ›ใ„ใพใฃใ›ใคใ“ใคใŸใ‚“ใ—ใ‚…ใใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3139http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3370
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200995http://nanbyodata.jp/ontology/NANDO_2201017
skos:altLabel - "neutral lipid storage disease" + "CDPX1" @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010155 + skos:altLabel + "CDPX1" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0015611http://purl.obolibrary.org/obo/MONDO_0010555
skos:prefLabel - "Dorfman-Chanarin็—‡ๅ€™็พค" + "X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + "X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type" + @en + "XๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง Conradi-Hunermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" + @ja - - + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2200998 +
http://nanbyodata.jp/ontology/NANDO_2201357 (rdf:type owl:Class @@ -162759,65 +223253,81 @@

hasNotificationNumber9hasNotificationNumber10
dcterms:identifier2200998NANDO:2201357
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "CHILD็—‡ๅ€™็พค" - @ja
rdfs:label - "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome" - @en
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3446 + rdfs:label + "ใˆใฃใใ™ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ“ใ‚“ใ‚‰ใƒผใงใƒใฒใ‚…ใƒผใญใ‚‹ใพใ‚“ใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200995http://nanbyodata.jp/ontology/NANDO_2201017
+ skos:altLabel + "CDPX2" + @en
+ skos:altLabel + "CDPX2" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010621http://purl.obolibrary.org/obo/MONDO_0020603
skos:prefLabel - "CHILD็—‡ๅ€™็พค" + "XๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง Conradi-Hunermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - + + - + - + + + + + + "ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“" + @ja-Hira - + - + + + + + + + + + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2200999 +
http://nanbyodata.jp/ontology/NANDO_2201358 (rdf:type owl:Class @@ -162825,65 +223335,89 @@

hasNotificationNumber9hasNotificationNumber10
dcterms:identifier2200999NANDO:2201358
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "IFAP็—‡ๅ€™็พค" + "CHILD syndrome" + @en
+ rdfs:label + "CHILD็—‡ๅ€™็พค" @ja
rdfs:label - "Ichthyosis-follicularis-atrichia-photophobia syndrome" - @en
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3449http://nanbyodata.jp/ontology/NANDO_1200629
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_02_007/http://nanbyodata.jp/ontology/NANDO_2200998
+ rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3446
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2200995http://nanbyodata.jp/ontology/NANDO_2201017
+ skos:altLabel + "Congenital hemidysplasia with ichthyosiform nevus and limb defects" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0010624http://purl.obolibrary.org/obo/MONDO_0010621
skos:prefLabel - "IFAP็—‡ๅ€™็พค" + "CHILD็—‡ๅ€™็พค" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2201000 +
http://nanbyodata.jp/ontology/NANDO_2201359 (rdf:type owl:Class @@ -162891,72 +223425,72 @@

hasNotificationNumber12
- dcterms:description - "ๅนณๆˆ๏ผ–ๅนดใซๅฎŸๆ–ฝใ—ใŸๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใซใ‚ˆใ‚‹ใจใ€ๅ…จๅ›ฝๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ500๏ฝž640ไบบใ€‚ๆ€งๆฏ”ใฏ็”ทๅฅณใปใผๅŒๆ•ฐใ€ๅนด้ฝขๅˆฅใงใฏ๏ผ•ๆญณๆœชๆบ€ใŒๆœ€ใ‚‚ๅคšใ22๏ผ…ใ€‚็™บ็—‡ๅนด้ฝขใฏ็ด„๏ผ™ๅ‰ฒใŒ๏ผ‘ๆญณๆœชๆบ€ใ€‚็—…ๅž‹ๅˆฅใงใฏ(1)ๅ˜็ด”ๅž‹ใ€€32๏ผ…(2)ๆŽฅๅˆ้ƒจๅž‹ใ€€7๏ผ…(3)ๅ„ชๆ€งใจๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€€ใใ‚Œใžใ‚Œ21๏ผ…ใจ33๏ผ…(4)ใใฎไป–ใ€€7๏ผ… ใงใ€็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญๅฏพ่ฑก๏ผˆ(2)ใ€(3)๏ผ‰ใฎๅˆ่จˆใฏ61๏ผ…ใ€‚ๅ—็™‚็Šถๆณใฏใ€ไธปใซ้€š้™ขใŒ็ด„50๏ผ…ใงๆœ€ใ‚‚ๅคšใใ€ๆฌกใ„ใงๅœจๅฎ…็™‚ๆณ•16๏ผ…ใ€่ปฝๅฟซ10๏ผ…ใ€ไธปใซๅ…ฅ้™ข3๏ผ…ใฎ้ †ใ€‚่ปฝ็—‡ไพ‹ใ‚‚ๅซใ‚ใ€ๅฎŸ้š›ใฎๆ‚ฃ่€…ๆ•ฐใฏใ•ใ‚‰ใซๅคšใ„ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ใใฎ้บไผๅฝขๅผใจๆฐด็–ฑใฎๅฝขๆˆใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚๏ผˆ่กจ1๏ผ‰(ๆ–ฐๅ›ฝ้š›่จบๆ–ญๅŸบๆบ– Fineetal. JAm Acad Dermatol(2008)ใ‹ใ‚‰ๅผ•็”จ)" - @jahasNotificationNumber10
dcterms:identifier2201000NANDO:2201359
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "epidermolysis bullosa" + "Chondrodysplasia punctata, tibial-metacarpal type" @en
rdfs:label - "่กจ็šฎๆฐด็–ฑ็—‡" + "ใ‘ใ„ใ“ใคใƒปใกใ‚…ใ†ใ—ใ‚…ใ“ใคใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01737http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=289
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_03_008/https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100284http://nanbyodata.jp/ontology/NANDO_2201017
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0006541http://purl.obolibrary.org/obo/MONDO_0007322
skos:prefLabel - "่กจ็šฎๆฐด็–ฑ็—‡" + "่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - + - - - - - + - + + + + + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2201001 +
http://nanbyodata.jp/ontology/NANDO_2201360 (rdf:type owl:Class @@ -162964,67 +223498,72 @@

hasNotificationNumberhasNotificationNumber 10
- dcterms:description - "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—…็†็ต„็น”ๅญฆ็š„ใซKogoj ๆตท็ถฟ็Šถ่†ฟ็–ฑใ‚’็‰นๅพดใจใ™ใ‚‹่ง’ๅฑคไธ‹่†ฟ็–ฑใ‚’ๅฝขๆˆใ™ใ‚‹๏ผŽๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒๆœฌ็—‡ใฎ็‰นๅพดใงใ‚ใ‚‹๏ผŽๅฐ‹ๅธธๆ€งไนพ็™ฌ็šฎ็–นใŒๅ…ˆ่กŒใ™ใ‚‹ไพ‹ใซใคใ„ใฆใฏๆˆไบบไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใฎใงไป–็จฟใซ่ญฒใ‚‹ใ€‚็ตŒ้Žไธญใซๅ…จ่บซๆ€ง็‚Ž็—‡ๅๅฟœใซไผดใ†่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹2)ใ€‚" - @ja
dcterms:identifier2201001NANDO:2201360
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_04_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "pustular psoriasis" + "Brachytelephalangic chondrodysplasia punctata" @en
rdfs:label - "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + "ใพใฃใ›ใคใ“ใคใŸใ‚“ใ—ใ‚…ใใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_04_009/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=3370
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100285http://nanbyodata.jp/ontology/NANDO_2201017
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0022205http://purl.obolibrary.org/obo/MONDO_0010555
skos:prefLabel - "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰" + "ๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2201002 +
http://nanbyodata.jp/ontology/NANDO_2201361 (rdf:type owl:Class @@ -163032,79 +223571,79 @@

hasNotificationNumber2
- dcterms:description - "ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้ซ˜็™บ็™Œๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ8ใคใฎใ‚ตใƒ–ใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚" - @jahasNotificationNumber10
dcterms:identifier2201002NANDO:2201361
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_05_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "Xeroderma pigmentosum" + "Greenberg dysplasia" @en
rdfs:label - "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + "Greenberg้ชจ็•ฐๅฝขๆˆ็—‡" @ja
+ rdfs:label + "ใใ‚Šใƒผใ‚“ใฐใƒผใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01428http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1952
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_05_010/https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100286http://nanbyodata.jp/ontology/NANDO_2201017
skos:altLabel - "XP" + "HEM dysplasia" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019600http://purl.obolibrary.org/obo/MONDO_0008974
skos:prefLabel - "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡" + "Greenberg้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + - - + + - + - - - - - - - - - - - - - + - +
http://nanbyodata.jp/ontology/nando#2201003 +
http://nanbyodata.jp/ontology/NANDO_2201362 (rdf:type owl:Class @@ -163112,91 +223651,67 @@

hasNotificationNumber14
- dcterms:description - "ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจใ€็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎใปใ‹้ชจใ€็œผใ€็ฅž็ตŒใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber10
dcterms:identifier2201003NANDO:2201362
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_06_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "von Recklinghausen's disease" + "Astley-Kendall dysplasia" @en
rdfs:label - "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…" + "Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1066 + rdfs:label + "ใ‚ใ™ใจใ‚Œใƒผใ‘ใ‚“ใŸใ‚‹ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_06_011/https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100287
- skos:altLabel - "neurofibromatosis type 1" - @en
- skos:altLabel - "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹" - @ja
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018975http://nanbyodata.jp/ontology/NANDO_2201017
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0021061http://purl.obolibrary.org/obo/MONDO_0019408
skos:prefLabel - "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…" + "Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - - - - - - - - +
http://nanbyodata.jp/ontology/nando#2201004 +
http://nanbyodata.jp/ontology/NANDO_2201363 (rdf:type owl:Class @@ -163204,72 +223719,62 @@

hasNotificationNumber11
- dcterms:description - "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡(pachydermoperiostosis, PDP)ใฏๅคช้ผ“ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽš๏ผˆ่„ณๅ›ž่ปข็Šถ้ ญ็šฎใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2ๆฌกๆ€ง๏ผˆ็ถš็™บๆ€ง๏ผ‰ใจใ—ใฆ่‚บใŒใ‚“ใชใฉใฎ่ƒธ่…”ๅ†…็–พๆ‚ฃใซใ‚ˆใ‚‹ใ‚‚ใฎใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€ง่‚ฅๅคงๆ€ง้ชจ้–ข็ฏ€็—‡๏ผˆprimary hypertrophic osteoarthropathy, PHO)ใ‚‚็พๅœจใงใฏๅŽŸๅ› ้บไผๅญใŒๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€้ชจใƒป้–ข็ฏ€็—‡็Šถใซ็€็›ฎใ—ใŸ็—…ๅใง็šฎ่†š็—‡็Šถใฎๆœ‰็„กใ‚’ๅ•ใ‚ใชใ„ใ€‚1868ๅนดใ€FriedreichใŒใ€๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ๆœฌ็—‡ใงใฏๅคšๅฝฉใชๅˆไฝต็—‡ใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅคšๆฑ—็—‡ใ€็œผ็žผไธ‹ๅž‚ใ€่„ฑๆฏ›ใ€ไธ‹่…ฟๆฝฐ็˜ใซๅŠ ใˆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใจใ—ใฆ10ไปฃใ‹ใ‚‰ใฎ่ƒƒใƒปๅไบŒๆŒ‡่…ธๆฝฐ็˜ใ‚„่ƒƒ็ฒ˜่†œๅทจๅคง่ฅžๅฃใ‚„้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅพŒ่€…ใฏๆœ€่ฟ‘ๅŽŸๅ› ้บไผๅญใŒๆœฌ็—‡ใจๅŒไธ€ใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใ€ๆœฌ็—‡ใฎ้‡่ฆใชๅˆไฝต็—‡ใจไฝ็ฝฎใฅใ‘ใ‚‰ใ‚ŒใŸใ€‚ใใฎใปใ‹้ชจ้ซ„็ทš็ถญ็—‡ใ‚„ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ€็šฎ่†šใƒป้ชจใฎใฟใชใ‚‰ใšๅคšใใฎ่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ™็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber10
dcterms:identifier2201004NANDO:2201363
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_07_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label - "pachydermoperiostosis" + "Other chondrodysplasia punctata" @en
rdfs:label - "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + "ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_07_012/https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100288
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009799
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0016620http://nanbyodata.jp/ontology/NANDO_2201017
skos:prefLabel - "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡" + "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2201005 +
http://nanbyodata.jp/ontology/NANDO_2201364 (rdf:type owl:Class @@ -163277,62 +223782,79 @@

hasNotificationNumber13
- dcterms:description - "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏๆฏ›้ซชใ€ๆญฏ็‰™ใ€็ˆชใ€ๆฑ—่…บใฎๅฝขๆˆไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธป่ฆใช่‡จๅบŠๅพดๅ€™ใฏใ€็šฎ่†šใจไป˜ๅฑžๅ™จใฎๅฝขๆˆไธๅ…จๅŠใณ็‰นๅพด็š„้ก”่ฒŒใงใ‚ใ‚Šใ€ใใฎ็—‡็Šถใฏๆฐธ็ถš็š„ใง้€ฒ่กŒใฏใ—ใชใ„ใ€‚ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹็„กๆฑ—(ไฝŽๆฑ—)ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏใ€1929ๅนดWeechใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงใซ150๏ฝž200ใ‚’่ถ…ใˆใ‚‹็—…ๅž‹ใŒ่จ˜่ผ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2201005NANDO:2201364
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_08_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "anhidrotic ectodermal dysplsia" + "Melorheostosis" @en
rdfs:label - "็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" + "ใ‚Šใ‚…ใ†ใ‚ใ†ใ“ใคใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๆต่‹้ชจ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_08_013/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=959
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100289http://nanbyodata.jp/ontology/NANDO_2201022
+ skos:altLabel + "ใƒกใƒญใƒฌใ‚ชใ‚นใƒˆใƒผใ‚ทใ‚น" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007970
skos:prefLabel - "็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ" + "ๆต่‹้ชจ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - - + + - - + + - +
http://nanbyodata.jp/ontology/nando#2201006 +
http://nanbyodata.jp/ontology/NANDO_2201365 (rdf:type owl:Class @@ -163340,74 +223862,72 @@

hasNotificationNumber3
- dcterms:description - "ใ‚นใƒ†ใ‚ฃใƒผใƒ–ใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค(SJS:Stevens-Johnson ็—‡ๅ€™็พค๏ผ‰ใฏใ€38โ„ƒไปฅไธŠใฎ้ซ˜็†ฑใ‚’ไผดใ„ๅ…จ่บซใฎ็šฎ่†šใซ็ด…ๆ–‘ใ‚„ๆฐด็–ฑใƒปใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ€็œผ็ต่†œใ‚„่ง’่†œใ€ๅฃๅ”‡ใƒปๅฃ่…”็ฒ˜่†œใ€้™ฐ้ƒจใชใฉใซใณใ‚‰ใ‚“ใ‚„ๅ‡บ่ก€ใจใ„ใฃใŸ้‡็ฏคใช็ฒ˜่†œ็–นใ‚’่ชใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ใฏ็šฎ่†šใฎใณใ‚‰ใ‚“้ข็ฉใŒ10๏ผ…ไปฅไธŠใซๆ‹กๅคงใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใ€‚็œผ็—‡็ŠถใŒๅผทใ„ๅ ดๅˆใซใฏใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ่ฆ–ๅŠ›ใฎไฝŽไธ‹ใ‚„ๅคฑๆ˜ŽใชใฉใฎๅพŒ้บ็—‡ใŒๆฎ‹ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซ่จบๆ–ญใ—ใฆ้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้–‹ๅง‹ใ—ใชใ„ใจ็”Ÿๅ‘ฝใซ้–ขใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2201006NANDO:2201365
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_09_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Stevens-Johnson syndrome" + "dysosteosclerosis" @en
rdfs:label - "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + "ใ„ใ“ใคใ›ใ„ใ“ใคใ“ใ†ใ‹ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_09_014/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2123
- rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100290 + rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/
- skos:altLabel - "Stevens-Johnson็—‡ๅ€™็พค" - @ja + rdfs:subClassOfhttp://nanbyodata.jp/ontology/NANDO_2201022
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018229http://purl.obolibrary.org/obo/MONDO_0009138
skos:prefLabel - "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค" + "็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡" @ja
- - + - - + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2201007 +
http://nanbyodata.jp/ontology/NANDO_2201366 (rdf:type owl:Class @@ -163415,60 +223935,74 @@

hasNotificationNumber3hasNotificationNumber4
dcterms:identifier2201007NANDO:2201366
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_14_09_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Toxic epidermal necrolysis" + "craniometaphyseal dysplasia" @en
rdfs:label - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" + "ใšใŒใ„ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_09_014/https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2201006http://nanbyodata.jp/ontology/NANDO_2201022
+ skos:altLabel + "CMD" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019810http://purl.obolibrary.org/obo/MONDO_0015465
skos:prefLabel - "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡" + "้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + + + + + - + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2201008 +
http://nanbyodata.jp/ontology/NANDO_2201367 (rdf:type owl:Class @@ -163476,62 +224010,91 @@

hasNotificationNumber1
- dcterms:description - "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค(Thoracic insufficiency syndrome)ใฏใ€ๅฐๅ…ใฎๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š่ƒธ้ƒญ๏ผˆๆจช้š”่†œใ€่„ŠๆŸฑใ‚’ๅซใ‚€๏ผ‰ใฎๆˆ้•ท้šœๅฎณใจใใ‚Œใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ๅฝขๆ…‹็•ฐๅธธใซใ‚ˆใ‚Šๆญฃๅธธใช่‚บใฎๆˆ้•ทใŒๅฆจใ’ใ‚‰ใ‚Œใ€ๅ‘ผๅธๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใŸ็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ็‰นๅพดใฏใ€่จบๆ–ญๆ™‚ๅ…จใๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใชใใฆใ‚‚ใใ‚ŒไปฅๅพŒใฎๆˆ้•ท้šœๅฎณใซใ‚ˆใ‚Šๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ“ใจใŒไบˆๆƒณใงใใ‚‹็—…ๆ…‹ใซใฏ้šœๅฎณ็™บ็”Ÿไปฅๅ‰ใงใ‚‚่จบๆ–ญใ‚’ใคใ‘ใ‚‹ใ“ใจใŒใงใใ‚‹็‚นใงใ‚ใ‚‹ใ€‚ใ“ใฎ็‚นใŒๅ…จใไป–ใฎ็–พๆ‚ฃ็พคใจใฏ็•ฐใชใ‚‹็‚นใงใ‚ใ‚Šใ€ใใฎ็†็”ฑใจใ—ใฆ่„ŠๆŸฑใƒป่ƒธ้ƒญใฎๅค‰ๅฝขใ‚„ๆˆ้•ท้šœๅฎณใฏไธ€ๆ—ฆ้ซ˜ๅบฆใซๆ‚ชๅŒ–ใ™ใ‚‹ใจใ€ไพ‹ใˆๆ‰‹่ก“ใ‚’ใ—ใฆใ‚‚ๆฉŸ่ƒฝ้šœๅฎณใŒๆ”นๅ–„ใ™ใ‚‹ใ“ใจใŒใปใจใ‚“ใฉไธๅฏ่ƒฝใซใชใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€ๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซ่ƒธ้ƒญใ‚’ๅฝขๆˆใ™ใ‚‹่‚‹้ชจใ€่„ŠๆŸฑใฎ้ชจๆ€ง่ฆ็ด ใจ่ƒธ้ƒญๆฉŸ่ƒฝใซ้–ขไธŽใ™ใ‚‹ๆจช้š”่†œใ€่‚‹้–“็ญ‹ใ€ไฝ“ๅนน็ญ‹๏ผˆ่ตท็ซ‹็ญ‹๏ผ‰ใ€ใใ—ใฆใใ‚Œใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใ™ใ‚‹็ฅž็ตŒๆฉŸ่ƒฝใฎใฉใ“ใซ้šœๅฎณใŒ็”Ÿใ˜ใฆใ‚‚็”Ÿใ˜ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2201008NANDO:2201367
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_01_001_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Thoracic insufficiency syndrome" + "Metaphyseal dysplasias" @en
rdfs:label - "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" + "ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_01_001/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2930
+ rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00479
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100292http://nanbyodata.jp/ontology/NANDO_2201022
+ skos:altLabel + "Pyle disease" + @en
+ skos:altLabel + "Pyle็—…" + @ja
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009943
skos:prefLabel - "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค" + "้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + - +
http://nanbyodata.jp/ontology/nando#2201009 +
http://nanbyodata.jp/ontology/NANDO_2201368 (rdf:type owl:Class @@ -163539,77 +224102,77 @@

hasNotificationNumber13
- dcterms:description - "ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎ่‘—ใ—ใ„ไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ข็Ÿญ็ธฎใฏ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใใ‚ใ‚‰ใ‚ใ‚Œใ‚‹ใ€‚ใ“ใฎใปใ‹ใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ่„ณ้ ญ่“‹ใŒ็›ธๅฏพ็š„ใซๅคงใใ„ใ€ๅ‰้ก้ƒจใฎ็ชๅ‡บใ€้ผปๆ น้ƒจใฎ้™ฅๅ‡นใ€้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆใ€ไธ‹้กŽใŒ็›ธๅฏพ็š„ใซ็ชๅ‡บ๏ผ‰ใ€ไธ‰ๅฐ–ๆ‰‹๏ผˆๆŒ‡ใฏ็Ÿญใใ€ไผธใฐใ™ใจไธญๆŒ‡ใจ่–ฌๆŒ‡ใฎ้–“ใŒ้›ขใ‚Œใ‚‹๏ผ‰ใ€ไธ‹้ƒจ่…ฐๆคŽใฎๅ‰ๅฝŽใŒๅผทใ„ใŸใ‚ใฎ่‡€้ƒจใฎๅพŒๆ–น็ชๅ‡บใŒ่บซไฝ“็š„ใช็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปฝ็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2201009NANDO:2201368
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_002_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Achondroplasia" + "craniodiaphyseal dysplasia" @en
rdfs:label - "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" + "ใšใŒใ„ใ“ใฃใ‹ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=8http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2009
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01749https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00491
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_002/https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201022
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007037http://purl.obolibrary.org/obo/MONDO_0009031
skos:prefLabel - "่ปŸ้ชจ็„กๅฝขๆˆ็—‡" + "้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡" @ja
- - + - - - - - - + + - + - + + "ใ“ใ†ใ‹ใ›ใ„ใ“ใคใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2201010 +
http://nanbyodata.jp/ontology/NANDO_2201369 (rdf:type owl:Class @@ -163617,77 +224180,79 @@

hasNotificationNumber12
- dcterms:description - "่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใ„ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซไผผใŸใƒฌใƒณใƒˆใ‚ฒใƒณๆ‰€่ฆ‹ใ‚’ใ—ใ‚ใ™ใŒใ€็จ‹ๅบฆใฏ่ปฝใๆญฃๅธธใซ่ฟ‘ใ„ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ้‡็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚" - @jahasNotificationNumber4
dcterms:identifier2201010NANDO:2201369
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_003_01.pdfhttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label - "Hypochondroplasia" + "Sclerosteosis" @en
rdfs:label - "่ปŸ้ชจไฝŽๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=786 + rdfs:label + "็กฌๅŒ–ๆ€ง้ชจ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02068https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00486
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_003/https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201022
+ skos:altLabel + "SOST" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007793http://purl.obolibrary.org/obo/MONDO_0017838
skos:prefLabel - "่ปŸ้ชจไฝŽๅฝขๆˆ็—‡" + "็กฌๅŒ–ๆ€ง้ชจ็—‡" @ja
- - + - - - - - - + + - + - + - - - - + "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜1๏ผ‰" + @ja-Hira - - + + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2201011 +
http://nanbyodata.jp/ontology/NANDO_2201370 (rdf:type owl:Class @@ -163695,82 +224260,81 @@

hasNotificationNumber3
- dcterms:description - "้ชจๅฝขๆˆไธๅ…จ็—‡ใจใฏ๏ผŒๆ˜“้ชจๆŠ˜ๆ€ง๏ผŒ้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใชใฉใฎ้ชจ่„†ๅผฑๆ€ง็—‡็ŠถใซๅŠ ใˆ๏ผŒๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ" - @jahasNotificationNumber5
dcterms:identifier2201011NANDO:2201370
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_004_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_003_01.pdf
rdfs:label - "Osteogenesis imperfecta" + "stage I huge arteriovenous malformation" @en
rdfs:label - "้ชจๅฝขๆˆไธๅ…จ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=7768
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00506 + rdfs:label + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage โ… ๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_004/https://www.shouman.jp/disease/details/16_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201029
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0013515 + skos:altLabel + "stage I AVM" + @en
+ skos:altLabel + "stage I gigantic arteriovenous malformation" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0019019http://purl.obolibrary.org/obo/MONDO_0001256
skos:prefLabel - "้ชจๅฝขๆˆไธๅ…จ็—‡" + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage โ… ๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜2๏ผ‰" + @ja-Hira - - + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2201012 +
http://nanbyodata.jp/ontology/NANDO_2201371 (rdf:type owl:Class @@ -163778,72 +224342,81 @@

hasNotificationNumber8
- dcterms:description - "็ต„็น”้ž็‰น็•ฐ็š„ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰้บไผๅญใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š้ชจใฎ็Ÿณ็ฐๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใพใŸใฏๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‡็—‡ๅบฆใ€็™บ็—‡ๆ™‚ๆœŸใชใฉใซใ‚ˆใ‚Šใ€6็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽๅ‘จ็”ฃๆœŸ้‡็—‡ๅž‹ใ€€ๆœ€ใ‚‚้‡็—‡ใช็—…ๅž‹ใงใ€ๅ‡บ็”Ÿๆ™‚ใซๅ››่‚ข็Ÿญ็ธฎใ€้ ญๅ›ฒใฎ็›ธๅฏพ็š„ๆ‹กๅคงใ€็‹ญใ„่ƒธ้ƒญใ‚’่ชใ‚ใ‚‹ใ€‚X็ทšใงใ€ๅ…จ่บซ้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€้•ท็ฎก้ชจใฎๅค‰ๅฝขใ€ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚๏ผ’๏ผŽๅ‘จ็”ฃๆœŸ่ปฝ็—‡ๅž‹๏ผš้ชจๅค‰ๅฝขใชใฉใ‹ใ‚‰่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡็—‡ไพ‹ใฎใชใ‹ใซใ€่‰ฏๅฅฝใช้ชจ็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝใช็—…ๅž‹ใ€‚ๆ—ฅๆœฌไบบไพ‹ใงใฏใ€ALP้บไผๅญF310Lใจใฎ้–ข้€ฃใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ“๏ผŽไนณๅ…ๅž‹๏ผšใ€€็”ŸๅพŒ6ใ‹ๆœˆใพใงใซ็™บ็—‡ใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๅž‹ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽๅฐๅ…ๅž‹๏ผšๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง้‡็—‡ๅบฆใฏใ•ใพใ–ใพใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸๅ–ชๅคฑใ‚’ไผดใ†ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚๏ผ•๏ผŽๆˆไบบๅž‹๏ผšๆˆไบบๆœŸใŠใ‚‚ใซไธญๅนดๆœŸใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง็—…็š„้ชจๆŠ˜ใ€้ชจ็—›ใซใ‚ˆใฃใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚๏ผ–๏ผŽๆญฏ้™ๅฑ€ๅž‹๏ผš้ชจใซ็—…ๅค‰ใŒ้™ๅฑ€ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸ่„ฑ่ฝใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber5
dcterms:identifier2201012NANDO:2201371
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_005_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_003_01.pdf
rdfs:label - "Hypophosphatasia" + "stage II huge arteriovenous malformation" @en
rdfs:label - "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00213 + rdfs:label + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage II๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_005/https://www.shouman.jp/disease/details/16_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201029
+ skos:altLabel + "stage II AVM" + @en
+ skos:altLabel + "stage II gigantic arteriovenous malformation" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0018570http://purl.obolibrary.org/obo/MONDO_0001256
skos:prefLabel - "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡" + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage II๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜3๏ผ‰" + @ja-Hira - - + + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2201013 +
http://nanbyodata.jp/ontology/NANDO_2201372 (rdf:type owl:Class @@ -163851,72 +224424,81 @@

hasNotificationNumber6
- dcterms:description - "ๅ…จ่บซใฎ้ชจ็กฌๅŒ–ใ€้€ ่ก€่ƒฝ้šœๅฎณใ€ๆ˜“้ชจๆŠ˜ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๆ—ฉ็™บๅž‹ใ€้…็™บๅž‹ใ€ไธญ้–“ๅž‹ใ€่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹ใฎ4็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚๏ผ‘๏ผŽๆ—ฉ็™บๅž‹๏ผšๅ‡บ็”Ÿๆ™‚ใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅคงๅŠใŒๅญฆ็ซฅๆœŸใพใงใซๆญปไบกใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ้‡็—‡ๅž‹ใ€‚่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซๅคงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ ญ่“‹้ชจใฎ็กฌๅŒ–ใ€ๅค‰ๅฝขใ€่ฆ–ๅŠ›่ดๅŠ›ใฎ้šœๅฎณใ€็ฒพ็ฅž็™บ้”้šœๅฎณใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ’๏ผŽ้…็™บๅž‹๏ผšๅ˜็ด”X็ทšใ‚’ๆ’ฎๅฝฑใ—ใŸ้š›ใซใ€ๅถ็„ถใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹่‰ฏๆ€งๅž‹ใงใ‚ใ‚‹ใ€‚่ฒง่ก€ใ€่‚่„พ่…ซใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ้šœๅฎณใฏๅฐ‘ใชใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ“๏ผŽไธญ้–“ๅž‹๏ผšๆ—ฉ็™บๅž‹ใจ้…็™บๅž‹ใฎไธญ้–“ใฎใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽ่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹๏ผš่…Žๅฐฟ็ดฐ็ฎกใชใฉใซ็™บ่จ€ใ—ใฆใ„ใ‚‹็‚ญ้…ธ่„ฑๆฐด้…ต็ด โ…กๅž‹ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber5
dcterms:identifier2201013NANDO:2201372
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_006_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_003_01.pdf
rdfs:label - "Osteopetrosis" + "stage III huge arteriovenous malformation" @en
rdfs:label - "ๅคง็†็Ÿณ้ชจ็—…" - @ja
- rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00436 + rdfs:label + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage III๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_006/https://www.shouman.jp/disease/details/16_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201029
+ skos:altLabel + "stage III AVM" + @en
+ skos:altLabel + "stage III gigantic arteriovenous malformation" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017198http://purl.obolibrary.org/obo/MONDO_0001256
skos:prefLabel - "ๅคง็†็Ÿณ้ชจ็—…" + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage III๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + + + + + - +
http://nanbyodata.jp/ontology/nando#2201014 +
http://nanbyodata.jp/ontology/NANDO_2201373 (rdf:type owl:Class @@ -163924,74 +224506,81 @@

hasNotificationNumber7
- dcterms:description - "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅค–้ชจ่…ซ๏ผˆ้ชจ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ๅค–้ชจ่…ซใฏๆˆ้•ทใจใจใ‚‚ใซๅคงใใใชใ‚Šใ€็šฎไธ‹่…ซ็˜คใจใ—ใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚่…ซ็˜ใฏๅทฆๅณๅฏพ็งฐๆ€งใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒๅคšใใ€ ่†ๅ‘จๅ›ฒใฎๅคง่…ฟ้ชจ้ ไฝใŠใ‚ˆใณ่„›้ชจ่ฟ‘ไฝใซๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๅค–้ชจ่…ซใฎๅคšใใฏ้ชจๅนน็ซฏใซ่…ซ็˜คใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใ€ ้–ข็ฏ€่ฟ‘ๅ‚ใฎ่…ซ็˜คใซใ‚ˆใ‚Š้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€้ชจ็ซฏๆˆ้•ท้šœๅฎณใ‚’ใใŸใ™็ตๆžœใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ Langer-Giedion็—‡ไพฏ็พคใฏๆฏ›้ซช้ผปๆŒ‡็ฏ€็•ฐๅฝขๆˆ็—‡2ๅž‹ใงใ€ๅคš็™บๆ€งๅค–้ชจ่…ซใ‚’ไธป็—‡็Šถใซๅซใฟใ€EXT1ๅ–ชๅคฑใ‚’ๅซใ‚€้บไผๅญๆฌ ๅคฑใ‚’็คบใ™ใŸใ‚ๆœฌ็–พๆ‚ฃใซๅซใ‚ใ‚‹ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ ็จ€ใซๅค–้ชจ่…ซใŒๆ‚ชๆ€งๅŒ–๏ผˆ่ปŸ้ชจ่‚‰่…ซใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผ‰ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber5
dcterms:identifier2201014NANDO:2201373
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_007_01.pdfhttps://www.shouman.jp/archives/doc/doc_16_01_003_01.pdf
rdfs:label - "Multiple cartilaginous exostosis" + "stage IV huge arteriovenous malformation" @en
rdfs:label - "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡" + "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜4๏ผ‰" + @ja-Hira
+ rdfs:label + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage IV๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_007/https://www.shouman.jp/disease/details/16_01_003/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201029
skos:altLabel - "Hereditary multiple exostosis" + "stage IV AVM" + @en
+ skos:altLabel + "stage IV gigantic arteriovenous malformation" @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005508http://purl.obolibrary.org/obo/MONDO_0001256
skos:prefLabel - "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡" + "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage IV๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใใ‚…ใ†ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - - - - - - - - - + - - - - - - - - - - - - + "็ƒ้บป็—บๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" + @ja
http://nanbyodata.jp/ontology/nando#2201015 +
http://nanbyodata.jp/ontology/NANDO_2201374 (rdf:type owl:Class @@ -163999,103 +224588,69 @@

hasNotificationNumber11
- dcterms:description - "ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅ†…่ปŸ้ชจ่…ซ๏ผˆ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๆ€งใซ่…ซ็˜ใŒๅคš็™บใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ ไธกๅดๆ€งใ‚ใ‚‹ใ„ใฏไบคๅ‰ๆ€งใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใฏ็Ÿญ็ฎก้ชจใซๅฅฝ็™บใ™ใ‚‹ใŒใ€้•ท็ฎก้ชจใ€่‚‹้ชจใ€้ชจ็›คใชใฉใฎ้ ปๅบฆใ‚‚้ซ˜ใ„ใ€‚ ๆˆ้•ทๆœŸใซ็ทฉๅพใซๅข—ๅคงใ—ใฆใ€้€ฒ่กŒๆ€งใซ้ชจใฎ่†จ้š†ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใŒๆˆ้•ท่ปŸ้ชจๆฟใฎ็™บ่‚ฒใ‚’ๅฆจใ’ใ‚‹ใŸใ‚ใ€็ฝนๆ‚ฃ้ƒจไฝใฎๅค‰ๅฝขใ‚„็Ÿญ็ธฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ ๆฉŸ่ƒฝ็š„ใซใฏ้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€่‘—ใ—ใ„ๆˆ้•ท้šœๅฎณใงใฎ่„š้•ทไธ็ญ‰ใ‚„ใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚ ้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚่ก€็ฎก่…ซใ‚’ไผดใ†ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏMaffucci็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ ๆˆไบบๆœŸไปฅ้™ใซ่ปŸ้ชจ่‚‰่…ซใชใฉใธๆ‚ชๆ€งๅŒ–ใ™ใ‚‹ๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber20
dcterms:identifier2201015NANDO:2201374
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_008_01.pdfhttps://www.shouman.jp/archives/doc/doc_11_38_081_01.pdf
rdfs:label - "Enchondromatosis" + "bulbar myasthenia gravis" @en
rdfs:label - "ๅ†…่ปŸ้ชจ่…ซ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1133 + rdfs:label + "็ƒๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_008/https://www.shouman.jp/disease/details/11_38_081/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293
- skos:altLabel - "Dyschondroplasia" - @en
- skos:altLabel - "Ollier disease" - @enhttp://nanbyodata.jp/ontology/NANDO_2201326
skos:altLabel - "Osteochondromatosis" - @en
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0005508
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007585
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008145
skos:prefLabel - "ๅ†…่ปŸ้ชจ่…ซ็—‡" + "็ƒๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡" @ja
- - + - - - - - - + + - + - + + "autosomal dominant epidermolysis bullosa simplex" + @en + "ใ‚†ใ†ใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira + + + + - + - + + + + +
http://nanbyodata.jp/ontology/nando#2201016 +
http://nanbyodata.jp/ontology/NANDO_2201375 (rdf:type owl:Class @@ -164103,62 +224658,67 @@

hasNotificationNumber14
- dcterms:description - "ๅคšใใฏ2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ๏ผˆCOL2A1๏ผ‰้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€X็ทš็š„ใซๅ…ฑ้€šใ—ใŸๆ‰€่ฆ‹ใŒใ‚ใ‚‹ๅคšๅฝฉใช่‡จๅบŠ่กจ็พๅž‹ใ‚’็คบใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ ่ƒŽๅ…ๆœŸใ‚„ๅ‡บ็”Ÿ็›ดๅพŒใซๅ‘จ็”ฃๆœŸๆญปไบกใ‚’่ตทใ“ใ™้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ๅฐๅ…ๆœŸไปฅ้™ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ไพ‹ใพใงๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่ปŸ้ชจๅŸบ่ณชใ‚’ๅฝขๆˆใ™ใ‚‹2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ้šœๅฎณใ•ใ‚Œๅ››่‚ขใ€ไฝ“ๅนนใจใ‚‚ใซ็Ÿญ็ธฎใ™ใ‚‹ใ€‚้–ข็ฏ€่ปŸ้ชจใ‚„ๆคŽ้–“ๆฟใฎๅŸบ่ณชใ‚‚ไพตใ•ใ‚Œใ‚‹ใŸใ‚ใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€๏ผˆ่„ŠๆคŽ๏ผ‰็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใพใŸใฏ็ช็„ถๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆคŽไฝ“ใ‚„้•ท็ฎก้ชจใฎ็•ฐๅธธใ‚„้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆ๏ผˆๅนณๅฆใช้ก”่ฒŒ๏ผ‰ใ€ ๅฐ้กŽ็—‡ใ‚’ๅ…ฑ้€šใฎ็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ…จ่บซ้ชจX็ทšไธŠใ€่„ŠๆคŽใƒป้ชจ็ซฏ็•ฐๅฝขๆˆใ‚’็‰นๅพดใจใ—ใ€ๅˆไฝต็—‡ใจใ—ใฆใ—ใฐใ—ใฐ้€ฒ่กŒๆ€ง่ฟ‘่ฆ–ใƒป้›ฃ่ดใƒปUๅญ—ๅž‹ใฎๅฃ่“‹่ฃ‚ใ‚’ไผดใ†ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201016NANDO:2201375
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_009_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ" - @ja
rdfs:label - "Type II collagenopathy" - @en
+ rdfs:label + "ๅ„ชๆ€งๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_009/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201341
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0017610
skos:prefLabel - "2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ" + "ๅ„ชๆ€งๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2201017 +
http://nanbyodata.jp/ontology/NANDO_2201376 (rdf:type owl:Class @@ -164166,62 +224726,79 @@

hasNotificationNumber10
- dcterms:description - "้ชจ็ซฏ่ปŸ้ชจใจใใฎๅ‘จๅ›ฒ่ปŸ้ƒจ็ต„็น”ใฎ็‚น็Šถ็Ÿณ็ฐๅŒ–ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅคšใใฎ็–พๆ‚ฃใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ XๆŸ“่‰ฒไฝ“ๅ„ชๆ€งConradi-Hรผnermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX2๏ผ‰ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX1๏ผ‰ใ€ CHILD็—‡ๅ€™็พค๏ผˆๅ…ˆๅคฉๆ€ง็‰‡ๅด็•ฐๅฝขๆˆใ€้ญš้ฑ—็™ฌใ€ๅ››่‚ขๆฌ ๆ๏ผ‰ใ€Keutel็—‡ๅ€™็พคใ€Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ใ€่ฟ‘ไฝ่‚ขๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€ ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ใ‚’็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ‚ฐใƒซใƒผใƒ—ใจๅฎš็พฉใ—ใ€ CDPX1ใจๅŒๆง˜ใฎๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹ใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใƒฏใƒซใƒ•ใ‚กใƒชใƒณ่ƒŽ่Šฝ็—‡ใ€ใƒ“ใ‚ฟใƒŸใƒณKๆฌ ไน็—‡ใ€ SLE่ƒŽ่Šฝ็—‡ใชใฉใฎ็—‡ๅ€™ๆ€งใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚Š็จฎใ€…ใฎๅคงใใ็•ฐใชใฃใŸ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใงๅˆฅ้€”ๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ใŸใ‚ใ€ๆœฌ็–พ็—…ใ‹ใ‚‰ใฏ้™คใใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201017NANDO:2201376
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_010_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "Chondrodysplasia punctata, excluding Peroxisomal disorders" + "Epidermolysis bullosa simplex with muscular dystrophy" @en
rdfs:label - "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" + "ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผใŒใฃใบใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_010/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2167
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201341
+ skos:altLabel + "EBS MD" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009181
skos:prefLabel - "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡" + "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - + + "ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰" + @ja-Hira - - + + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2201018 +
http://nanbyodata.jp/ontology/NANDO_2201377 (rdf:type owl:Class @@ -164229,72 +224806,62 @@

hasNotificationNumber2
- dcterms:description - "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ทใ€ไธ‹่‚ขใฎๅค‰ๅฝขใ€็ŸญๆŒ‡ใ€้–ข็ฏ€ๅผ›็ทฉๆ€งใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ็‰นใซ่ฟ‘ไฝ่‚ข็ฏ€ใฎ็Ÿญ็ธฎใŒ็›ฎ็ซ‹ใกใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซ้กžไผผใ—ใŸๅค–่ฆณใ‚’ๅ‘ˆใ—ใฆใ„ใ‚‹ใ“ใจใŒใ€ๆœฌ็—‡ใฎๅ็งฐ็”ฑๆฅใจใชใฃใฆใ„ใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใฏ็•ฐใชใ‚Šใ€้ก”่ฒŒใฏ้€šๅธธใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไฝŽ่บซ้•ทใฏ่‘—ๆ˜Žใงใ€ๆœ€็ต‚่บซ้•ทใฏ่ปฝ็—‡ๅž‹ใง-3๏ฝž-4SDใ€้‡็—‡ๅž‹ใง-6SDไปฅไธ‹ใจใชใ‚‹ใ€‚ ใพใŸใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใฎ็Ÿญ็ธฎใ‚„้–ข็ฏ€ๅผ›็ทฉๆ€งใŒ่‘—ใ—ใ„ใ€‚ๅ››่‚ขใฎๅคง้–ข็ฏ€ใงใ‚‚้–ข็ฏ€ๅผ›็ทฉๆ€งใฏ่‘—ๆ˜Žใงใ€่‘—ใ—ใ„ๅ†…ๅ่†ใพใŸใฏๅค–ๅ่†ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่‚˜้–ข็ฏ€ใ‚„่‚ก้–ข็ฏ€ใงใฏๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๆ—ฉๆœŸ๏ผˆ10ๆญณไปฃๅพŒๅŠใ‹ใ‚‰20ๆญณไปฃ๏ผ‰ใ‹ใ‚‰ไธ‹่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ€ๆ—ฉ็™บใฎๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201018NANDO:2201377
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_011_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "Pseudoachondroplasia" + "Other epidermolysis bullosa simplex" @en
rdfs:label - "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=1303 + rdfs:label + "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" + @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_011/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0008322http://nanbyodata.jp/ontology/NANDO_2201341
skos:prefLabel - "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡" + "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
- - + - - - - - - + + - + - + + + + + - + - + - + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2201019 +
http://nanbyodata.jp/ontology/NANDO_2201378 (rdf:type owl:Class @@ -164302,84 +224869,98 @@

hasNotificationNumber16
- dcterms:description - "้ก”่ฒŒ็•ฐๅธธใ‚’ไผดใฃใŸๅคš็™บๆ€งๅ…ˆๅคฉๆ€ง่„ฑ่‡ผใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€1950ๅนดใƒฉใƒผใ‚ปใƒณใซใ‚ˆใ‚Šใฏใ˜ใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ ้–“่‘‰็ณป็ตๅˆ็ต„็น”ใฎๅฝขๆˆ็•ฐๅธธใŒไธปๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ€ๅ…ˆๅคฉๆ€งใƒปๅคš็™บๆ€งใฎ้ชจใŠใ‚ˆใณ้–ข็ฏ€็•ฐๅธธใ‚’ใใŸใ™ใ€‚ ่‡จๅบŠ็š„ใซใฏ้ก”่ฒŒ็•ฐๅธธ๏ผˆๅ‰้ ญ้ƒจ็ชๅ‡บใ€้ก”้ขไธญๅคฎ้ƒจใฎไฝŽๅฝขๆˆ๏ฝค็œผ้–“้–‹้›ขใ€ๅฐ้กŽใชใฉ๏ผ‰ใ€ๅคš็™บ้–ข็ฏ€้šœๅฎณ๏ผˆ่„ฑ่‡ผใ€ๆ‹˜็ธฎ๏ผ‰ใ€ ใธใ‚‰็ŠถใฎๆŒ‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็‰นใซ่‚กใ€่†ใ€่‚˜ใชใฉใฎๅคง้–ข็ฏ€ใฎๅคš็™บ่„ฑ่‡ผใจใ€ใปใผๅฟ…็™บใ™ใ‚‹ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎๅ†…ๅ่ถณใŒๅ•้กŒใจใชใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใฏ้ซ˜้ ปๅบฆใง่ชใ‚ใ€็‰นใซ้ ธๆคŽใฎๅพŒๅผฏใซไผดใ†้ ธ้ซ„็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ ๅฃ่“‹่ฃ‚ใ€ๆฐ—็ฎกใƒปๅ–‰้ ญ่ปŸๅŒ–็—‡ใ€้›ฃ่ดใ€ใชใฉ้ชจๆ ผๅค–ๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201019NANDO:2201378
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_012_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "Larsen syndrome" + "Herlitz junctional epidermolysis bullosa" @en
rdfs:label - "ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค" + "ใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=868http://nanbyodata.jp/ontology/NANDO_2200119
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02048http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2168
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_012/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201342
skos:altLabel - "Larsen็—‡ๅ€™็พค" + "Herlitz JEB" + @en
+ skos:altLabel + "Herlitzๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
+ skos:altLabel + "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007875http://purl.obolibrary.org/obo/MONDO_0009182
skos:prefLabel - "ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค" + "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - + + "ใฒใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - + - - + + + + + + - +
http://nanbyodata.jp/ontology/nando#2201020 +
http://nanbyodata.jp/ontology/NANDO_2201379 (rdf:type owl:Class @@ -164387,82 +224968,86 @@

hasNotificationNumber5
- dcterms:description - "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆfibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ€้–‹ๅฃ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚็—…็Šถใฎ้€ฒ่กŒใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆๆดปๅ‹•๏ผ‰ใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง้ชจๅŒ–ใฏไธปใจใ—ใฆๅฐๅ…ๆœŸใซๅง‹ใพใ‚‹ใ€‚ๆณจๅฐ„ใ‚„ๆ‰‹่ก“ใชใฉใฎๅŒป็™‚่กŒ็‚บใ‚’ๅซใ‚€ๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใจใ—ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—๏ผˆflare-up๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹็‚Ž็—‡ๆ€งใฎ็šฎไธ‹่ปŸ้ƒจ็ต„็น”่…ซ่„นใซๅผ•ใ็ถšใ„ใฆ้ชจๅŒ–ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅค–ๅ‚ทใฎใชใ„ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚„ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚’็ตŒใชใ„้ชจๅŒ–ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚่ถณใฎๆฏ่ถพใซๅ…ˆๅคฉๆ€งใฎๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚Šใ€ใใ‚Œไปฅๅค–ใซใ€ๆ‰‹ใฎๆฏๆŒ‡ใฎไฝŽๅฝขๆˆใ€ๅฐๆŒ‡ใฎๅผฏๆ›ฒใ€้•ท็ฎก้ชจ้ชจๅนน็ซฏ้ƒจใฎๅค–้ชจ่…ซใ€็ฆฟ้ ญใ€่ดๅŠ›้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201020NANDO:2201379
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_013_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "fibrodysplasia ossificans progressiva" + "Non-Herlitz junctional epidermolysis bullosa" @en
rdfs:label - "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=596 + rdfs:label + "้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00430http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2166
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_013/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201342
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0003964 + skos:altLabel + "non-Herlitz JEB" + @en
+ skos:altLabel + "้žHerlitzๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0007606http://purl.obolibrary.org/obo/MONDO_0009180
skos:prefLabel - "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡" + "้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + + + + + - + + + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/nando#2201021 +
http://nanbyodata.jp/ontology/NANDO_2201380 (rdf:type owl:Class @@ -164470,62 +225055,93 @@

hasNotificationNumber9
- dcterms:description - "ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณ้€้Žๆ€งใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚‹TRPV4 ๏ผˆtransient receptor potential cation channel, subfamily V, member 4๏ผ‰ใฎ ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ€ๅค‰ๅฎนๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Maroteauxๅž‹ใ€่„ŠๆคŽ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Kozlowskiๅž‹ใ€ ็Ÿญไฝ“ๅนน็—‡ใ€็ŸญๆŒ‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€งๆŒ‡้–ข็ฏ€็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใซใŠใ„ใฆใ‚‚ๆ‰ๅนณๆคŽใ€้–ข็ฏ€ใฎ่…ซๅคงใŠใ‚ˆใณๆ‹˜็ธฎใ€ ไฝŽ่บซ้•ทใชใฉใ‚’ๅ…ฑ้€šใฎ่กจ็พๅž‹ใจใ™ใ‚‹ใŒใ€้‡็—‡ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่„ŠๆŸฑใ‚„ๅ››่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขใ‚’ไผดใ„ใ‚„ใ™ใใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚„ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใŸใ‚ใ€ใใ‚Œใ‚‰ใซๅฏพใ™ใ‚‹ๆ•ดๅฝขๅค–็ง‘็š„ใชๅฏพๅฟœใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201021NANDO:2201380
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_014_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders" + "Junctional epidermolysis bullosa with pyloric atresia" @en
rdfs:label - "๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡" + "ใ‚†ใ†ใ‚‚ใ‚“ใธใ„ใ•ใŒใฃใบใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅนฝ้–€้–‰้Ž–ๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_014/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2169
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201342
+ skos:altLabel + "EB-PA" + @en
+ skos:altLabel + "PA-JEB" + @en
+ skos:altLabel + "junctional epidermolysis bullosa with pyloric atresia" + @en
+ skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009183
skos:prefLabel - "๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡" + "ๅนฝ้–€้–‰้Ž–ๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - - - - - + + - + - + + + + + - + - +
http://nanbyodata.jp/ontology/nando#2201022 +
http://nanbyodata.jp/ontology/NANDO_2201381 (rdf:type owl:Class @@ -164533,62 +225149,62 @@

hasNotificationNumber4
- dcterms:description - "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฏไธปใจใ—ใฆ็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…จ่บซๆ€งใซใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ๆฟƒๅŒ–็•ฐ้ชจ็—‡ใ€้ชจๆ–‘็ด‹็—‡ใ€้ชจ็ทš็Šถ็—‡ใ€ๆต่‹้ชจ็—‡ใ€็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ใ€้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ใ€้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡๏ผˆPyle็—…๏ผ‰ใ€้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ใ€็กฌๅŒ–ๆ€ง้ชจ็—‡ใชใฉใ‚’ๅซใ‚€ใ€‚X็ทšๆ‰€่ฆ‹ใจใ—ใฆใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ€้ชจ่‚ฅๅŽšใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏ้ ญ่“‹ๅ† ใ‚„้ ญ่“‹ๅบ•ใ€ไธ‹้กŽ้ชจใ€ๅ››่‚ข้•ท็ฎก้ชจใ‚„้Ž–้ชจใชใฉใซใ—ใฐใ—ใฐ่ชใ‚ใ‚‹ใ€‚้ชจ็กฌๅŒ–ๆ€ง็—…ๅค‰ใซไผดใ†่„ณ็ฅž็ตŒ้šœๅฎณใ‚„ๆ˜“้ชจๆŠ˜ๆ€งใ€้ชจ้ซ„็‚Žใชใฉใฎ็—‡็Šถใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€‚่„ณ็ฅž็ตŒใฎๅœง่ฟซใ‚’่งฃ้™คใ™ใ‚‹ใŸใ‚ใซใ€ๆ‰‹่ก“ๅŠ ็™‚ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ชจๆŠ˜ๆฒป็™’ใฏๆฅตใ‚ใฆ้…ๅปถใ—ใ€ใ—ใฐใ—ใฐๅฝ้–ข็ฏ€ใซ่‡ณใ‚‹ใ€‚ใพใŸใ€้ชจ้ซ„็‚Žใฏ้ทๅปถๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201022NANDO:2201381
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "osteosclerotic diseases" + "Other junctional epidermolysis bullosa" @en
rdfs:label - "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ" + "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2100293http://nanbyodata.jp/ontology/NANDO_2201342
skos:prefLabel - "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ" + "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
- - + - - - - - - + + - + - + + "ใ‚†ใ†ใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira - - + + - + - + - - - - - +
http://nanbyodata.jp/ontology/nando#2201023 +
http://nanbyodata.jp/ontology/NANDO_2201382 (rdf:type owl:Class @@ -164596,77 +225212,67 @@

hasNotificationNumber4
- dcterms:description - "ใ‚ซใƒ†ใƒ—ใ‚ทใƒณK๏ผˆCTSK๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚" - @jahasNotificationNumber12
dcterms:identifier2201023NANDO:2201382
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "Pycnodysostosis" + "Dominant dystrophic epidermolysis bullosa" @en
rdfs:label - "ๆฟƒๅŒ–็•ฐ้ชจ็—‡" - @ja
- rdfs:seeAlsohttp://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2927 + rdfs:label + "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" + @ja
rdfs:seeAlsohttps://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00273http://nanbyodata.jp/ontology/NANDO_1200237
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2201022
- skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0009940http://nanbyodata.jp/ontology/NANDO_2201343
skos:prefLabel - "ๆฟƒๅŒ–็•ฐ้ชจ็—‡" + "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + - + + + + + - + + + + + + + + + - +
http://nanbyodata.jp/ontology/nando#2201024 +
http://nanbyodata.jp/ontology/NANDO_2201383 (rdf:type owl:Class @@ -164674,60 +225280,86 @@

hasNotificationNumber4hasNotificationNumber12
dcterms:identifier2201024NANDO:2201383
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "osteopoikilosis" + "Recessive dystrophic epidermolysis bullosa, generalized severe" @en
rdfs:label - "้ชจๆ–‘็ด‹็—‡" + "ใ‚Œใฃใ›ใ„ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใฏใ‚“ใฑใคใŒใŸใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†" + @ja-Hira
+ rdfs:label + "ๅŠฃๆ€ง้‡็—‡ๆฑŽ็™บๅž‹ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2165
+ rdfs:seeAlsohttps://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2201022http://nanbyodata.jp/ontology/NANDO_2201343
+ skos:altLabel + " Hallopeau-Siemensๅž‹RDEB" + @ja
+ skos:altLabel + "RDEB, generalized severe" + @en
skos:closeMatchhttp://purl.obolibrary.org/obo/MONDO_0001414http://purl.obolibrary.org/obo/MONDO_0009179
skos:prefLabel - "้ชจๆ–‘็ด‹็—‡" + "ๅŠฃๆ€ง้‡็—‡ๆฑŽ็™บๅž‹ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡" @ja
- - + - - + + - + - + + + + + - + - + @@ -164789,10 +225428,42 @@

Object properties

+
http://nanbyodata.jp/ontology/nando#2201025 +
http://nanbyodata.jp/ontology/NANDO_2201384 (rdf:type owl:Class @@ -164735,48 +225367,55 @@

hasNotificationNumber4hasNotificationNumber12
dcterms:identifier2201025NANDO:2201384
dcterms:sourcehttps://www.shouman.jp/archives/doc/doc_15_02_015_01.pdfhttps://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label - "Osteopathia Striata" + "Other dystrophic epidermolysis bullosa" @en
rdfs:label - "้ชจ็ทš็Šถ็—‡" + "ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰" + @ja-Hira
+ rdfs:label + "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
rdfs:seeAlsohttps://www.shouman.jp/disease/details/15_02_015/https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOfhttp://nanbyodata.jp/ontology/nando#2201022http://nanbyodata.jp/ontology/NANDO_2201343
skos:prefLabel - "้ชจ็ทš็Šถ็—‡" + "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰" @ja
+ + + + + + + + + + + + + + + +
http://nanbyodata.jp/ontology/NANDO_hasInheritance + (rdf:type + + owl:ObjectProperty + ) + +
+ dc:description + "Relationship between a clinical entity and modes of inheritance. " + @en
+ rdfs:label + "has inheritance" + @en
+ rdfs:label + "้บไผๅฝขๅผ" + @ja

Datatype properties

- - +
http://nanbyodata.jp/ontology/nando#hasNotificationNumber +
http://nanbyodata.jp/ontology/NANDO_hasNotificationNumber (rdf:type owl:DatatypeProperty diff --git a/results/nando.rdf b/results/nando.rdf index 0c31671..760f87e 100644 --- a/results/nando.rdf +++ b/results/nando.rdf @@ -1,10952 +1,12974 @@ - - - 0000001 - intractable disease + xmlns:xsd="http://www.w3.org/2001/XMLSchema#"> + + NANDO:0000001 + Intractable disease + ใชใ‚“ใณใ‚‡ใ† ้›ฃ็—… ้›ฃ็—… - - NANDO number no more in use. - 0000002 - obsolete class + + NANDO number no more in use. + NANDO:0000002 + Obsolete class + obsolete class - obsolete class + obsolete class - - 1000001 - designated intractable disease + + NANDO:1000001 + Designated intractable disease + ใ—ใฆใ„ใชใ‚“ใณใ‚‡ใ† ๆŒ‡ๅฎš้›ฃ็—… - + ๆŒ‡ๅฎš้›ฃ็—… - - 1100001 + + NANDO:1100001 Neuromuscular disease + ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใ—ใฃใ‹ใ‚“ ็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ - + + + ็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ - - 1100002 + + NANDO:1100002 Metabolic disease + ใŸใ„ใ—ใ‚ƒใ‘ใ„ใ—ใฃใ‹ใ‚“ ไปฃ่ฌ็ณป็–พๆ‚ฃ - + + + ไปฃ่ฌ็ณป็–พๆ‚ฃ - - 1100003 + + NANDO:1100003 Skin and connective tissue disease + ใฒใตใƒปใ‘ใคใ”ใ†ใใ—ใใ—ใฃใ‹ใ‚“ ็šฎ่†šใƒป็ตๅˆ็ต„็น”็–พๆ‚ฃ - + + ็šฎ่†šใƒป็ตๅˆ็ต„็น”็–พๆ‚ฃ - - 1100004 + + NANDO:1100004 Immune system disease + ใ‚ใ‚“ใˆใใ‘ใ„ใ—ใฃใ‹ใ‚“ ๅ…็–ซ็ณป็–พๆ‚ฃ - + + ๅ…็–ซ็ณป็–พๆ‚ฃ - - 1100005 + + NANDO:1100005 Cardiovascular disease + ใ˜ใ‚…ใ‚“ใ‹ใ‚“ใใ‘ใ„ใ—ใฃใ‹ใ‚“ ๅพช็’ฐๅ™จ็ณป็–พๆ‚ฃ - + + ๅพช็’ฐๅ™จ็ณป็–พๆ‚ฃ - - 1100006 + + NANDO:1100006 Blood disease + ใ‘ใคใˆใใ‘ใ„ใ—ใฃใ‹ใ‚“ ่ก€ๆถฒ็ณป็–พๆ‚ฃ - + + ่ก€ๆถฒ็ณป็–พๆ‚ฃ - - 1100007 + + NANDO:1100007 Renal and urological disease + ใ˜ใ‚“ใƒปใฒใซใ‚‡ใ†ใใ‘ใ„ใ—ใฃใ‹ใ‚“ ่…ŽใƒปๆณŒๅฐฟๅ™จ็ณป็–พๆ‚ฃ - + ่…ŽใƒปๆณŒๅฐฟๅ™จ็ณป็–พๆ‚ฃ - - 1100008 + + NANDO:1100008 Bone and joint disease + ใ“ใคใƒปใ‹ใ‚“ใ›ใคใ‘ใ„ใ—ใฃใ‹ใ‚“ ้ชจใƒป้–ข็ฏ€็ณป็–พๆ‚ฃ - + ้ชจใƒป้–ข็ฏ€็ณป็–พๆ‚ฃ - - 1100009 + + NANDO:1100009 Endocrine disease + ใชใ„ใถใ‚“ใดใคใ‘ใ„ใ—ใฃใ‹ใ‚“ ๅ†…ๅˆ†ๆณŒ็ณป็–พๆ‚ฃ - + + ๅ†…ๅˆ†ๆณŒ็ณป็–พๆ‚ฃ - - 1100010 + + NANDO:1100010 Respiratory disease + ใ“ใใ‚…ใ†ใใ‘ใ„ใ—ใฃใ‹ใ‚“ ๅ‘ผๅธๅ™จ็ณป็–พๆ‚ฃ - + + ๅ‘ผๅธๅ™จ็ณป็–พๆ‚ฃ - - 1100011 + + NANDO:1100011 Eye and visual system disease + ใ—ใ‹ใใ‘ใ„ใ—ใฃใ‹ใ‚“ ่ฆ–่ฆš็ณป็–พๆ‚ฃ - + ่ฆ–่ฆš็ณป็–พๆ‚ฃ - - 1100012 + + NANDO:1100012 Hearing and balance disorder + ใกใ‚‡ใ†ใ‹ใใƒปใธใ„ใ“ใ†ใใฎใ†ใ‘ใ„ใ—ใฃใ‹ใ‚“ ่ด่ฆšใƒปๅนณ่กกๆฉŸ่ƒฝ็ณป็–พๆ‚ฃ - + ่ด่ฆšใƒปๅนณ่กกๆฉŸ่ƒฝ็ณป็–พๆ‚ฃ - - 1100013 + + NANDO:1100013 Gastrointestinal disease + ใ—ใ‚‡ใ†ใ‹ใใ‘ใ„ใ—ใฃใ‹ใ‚“ ๆถˆๅŒ–ๅ™จ็ณป็–พๆ‚ฃ - + + ๆถˆๅŒ–ๅ™จ็ณป็–พๆ‚ฃ - - 1100014 + + NANDO:1100014 Chromosome abnormality + ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค - + + + + ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค - - 1100015 + + NANDO:1100015 Otorhinolaryngological disease + ใ˜ใณใ‹ใ‘ใ„ใ—ใฃใ‹ใ‚“ ่€ณ้ผป็ง‘็ณป็–พๆ‚ฃ - + + ่€ณ้ผป็ง‘็ณป็–พๆ‚ฃ - - 1 - ้€šๅธธๆˆไบบ็”ทๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€้บไผๆ€งไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ๅŠใณ็ญ‹่Ž็ธฎใ€็ƒ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใชใฉ่ปฝๅบฆใฎใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅ…จ็—‡ใ‚„่€็ณ–่ƒฝ็•ฐๅธธใ€่„‚่ณช็•ฐๅธธ็—‡ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚็ญ‹ๅŠ›ไฝŽไธ‹ใฎ็™บ็—‡ใฏ้€šๅธธ30๏ฝž60ๆญณ้ ƒใงใ€็ตŒ้Žใฏ็ทฉๅพ้€ฒ่กŒๆ€งใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๅ็งฐใฏ Spinal and Bulbar Muscular Atrophy ๏ผˆSBMA๏ผ‰ใงใ‚ใ‚‹ใŒใ€Kennedy diseaseใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 1200001 - + + 1 + ้€šๅธธๆˆไบบ็”ทๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€้บไผๆ€งไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ๅŠใณ็ญ‹่Ž็ธฎใ€็ƒ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใชใฉ่ปฝๅบฆใฎใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅ…จ็—‡ใ‚„่€็ณ–่ƒฝ็•ฐๅธธใ€่„‚่ณช็•ฐๅธธ็—‡ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚็ญ‹ๅŠ›ไฝŽไธ‹ใฎ็™บ็—‡ใฏ้€šๅธธ30๏ฝž60ๆญณ้ ƒใงใ€็ตŒ้Žใฏ็ทฉๅพ้€ฒ่กŒๆ€งใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๅ็งฐใฏ Spinal and Bulbar Muscular Atrophy ๏ผˆSBMA๏ผ‰ใงใ‚ใ‚‹ใŒใ€Kennedy diseaseใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:1200001 + Spinal and bulbar muscular atrophy + ใใ‚…ใ†ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ็ƒ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ - - + + + KAS + Kennedy disease + Kennedy-Alter-Sung็—‡ๅ€™็พค + SBMA ็ƒ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ - - 2 - ไธปใซไธญๅนดไปฅ้™ใซ็™บ็—‡ใ—ใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใจไบŒๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใŒ้ธๆŠž็š„ใซใ‹ใค้€ฒ่กŒๆ€งใซๅค‰ๆ€งใƒปๆถˆๅคฑใ—ใฆใ„ใๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ‹ขใฎ้€ฒๅฑ•ใฏๆฏ”่ผƒ็š„้€Ÿใใ€ไบบๅทฅๅ‘ผๅธๅ™จใ‚’็”จใ„ใชใ‘ใ‚Œใฐ้€šๅธธใฏ๏ผ’๏ฝž๏ผ•ๅนดใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200002 - + + 2 + ไธปใซไธญๅนดไปฅ้™ใซ็™บ็—‡ใ—ใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใจไบŒๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใŒ้ธๆŠž็š„ใซใ‹ใค้€ฒ่กŒๆ€งใซๅค‰ๆ€งใƒปๆถˆๅคฑใ—ใฆใ„ใๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ‹ขใฎ้€ฒๅฑ•ใฏๆฏ”่ผƒ็š„้€Ÿใใ€ไบบๅทฅๅ‘ผๅธๅ™จใ‚’็”จใ„ใชใ‘ใ‚Œใฐ้€šๅธธใฏ๏ผ’๏ฝž๏ผ•ๅนดใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200002 + Amyotrophic lateral sclerosis + ใใ‚“ใ„ใ—ใ‚…ใใ›ใ„ใใใ•ใใ“ใ†ใ‹ใ—ใ‚‡ใ† ็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡ - - + + + ALS ็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡ - - 3 - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡๏ผˆspinal muscular atrophy๏ผšSMA๏ผ‰ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใ€IVๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95๏ผ…ใซSMN1้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ๏ผ‘๏ฝž๏ผ’ๅ‰ฒใซใŠใ„ใฆSMN๏ผ‘้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚SMN1้บไผๅญใซๅค‰็•ฐใŒใชใๆ—ฉๆœŸใซๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™Iๅž‹ใซใŠใ„ใฆใ€IGHMBP2ใฎ้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 1200003 - + + 3 + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡๏ผˆspinal muscular atrophy๏ผšSMA๏ผ‰ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใ€IVๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95๏ผ…ใซSMN1้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ๏ผ‘๏ฝž๏ผ’ๅ‰ฒใซใŠใ„ใฆSMN๏ผ‘้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚SMN1้บไผๅญใซๅค‰็•ฐใŒใชใๆ—ฉๆœŸใซๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™Iๅž‹ใซใŠใ„ใฆใ€IGHMBP2ใฎ้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:1200003 + Spinal muscular atrophy + ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ + - - + + + SMA ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ - - 3 - 1200004 - - Werdnig-Hoffmann disease - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ I ๅž‹ + + 3 + NANDO:1200004 + + Spinal muscular atrophy type I + ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 1ใŒใŸ + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡Iๅž‹ - - - Spinal muscular atrophy type1 + + + SMA I + Werdnig-Hoffmann disease ใ‚ฆใ‚งใƒซใƒ‰ใƒ‹ใƒƒใƒ’ใƒปใƒ›ใƒ•ใƒžใƒณ็—… + ๆ€ฅๆ€งไนณๅ…ๅž‹SMA - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ I ๅž‹ - - - 3 - 1200005 - - Dubowitz disease - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ II ๅž‹ + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡Iๅž‹ + + + 3 + NANDO:1200005 + + Spinal muscular atrophy type II + ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 2ใŒใŸ + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIๅž‹ - - - Spinal muscular atrophy type2 + + + SMA II ใƒ‡ใƒฅใƒœใƒ“ใƒƒใƒ„็—… - + ๆ…ขๆ€งไนณๅ…ๅž‹SMA - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ II ๅž‹ - - - 3 - 1200006 - - Kugelberg-Welander disease - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ III ๅž‹ + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIๅž‹ + + + 3 + NANDO:1200006 + + Spinal muscular atrophy type III + ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 3ใŒใŸ + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIIๅž‹ - - - Spinal muscular atrophy type3 + + + Kugelberg-Welander disease + SMA III ใ‚ฏใƒผใ‚ฒใƒณใƒ™ใƒซใ‚ฐใƒปใ‚ฆใ‚งใƒฉใƒณใƒ€ใƒผ็—… + ๆ…ขๆ€งๅž‹SMA + ่‹ฅๅนดๅž‹SMA - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ III ๅž‹ - - - 3 - 1200007 - - Spinal muscular atrophy type4 - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ IV ๅž‹ + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIIๅž‹ + + + 3 + NANDO:1200007 + + Spinal muscular atrophy type IV + ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† 4ใŒใŸ + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IVๅž‹ + - - - SMA type4 + + + SMA IV + ๆˆไบบๅž‹SMA ๆˆไบบ็™บ็—‡ๅž‹ - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ IV ๅž‹ - - - 4 - ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆprimary lateral sclerosis๏ผšPLS๏ผ‰ใฏใ€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใกใงไธ€ๆฌก๏ผˆไธŠไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฎใฟใŒ้ธๆŠž็š„ใ€้€ฒ่กŒๆ€งใซ้šœๅฎณใ•ใ‚Œใ€ไบŒๆฌก๏ผˆไธ‹ไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฏไฟใŸใ‚Œใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใ‹ใ‚‰ไธญๅนดไปฅ้™ใซใ‚ใŸใฃใฆๅน…ๅบƒใ„ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡ใฏใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ้šœๅฎณใŒๅ‰้ขใซๅ‡บใŸ็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆamyotrophic lateral sclerosis๏ผšALS๏ผ‰ใจใฎ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใชๅ ดๅˆใŒใ‚ใ‚Šใ€ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฎ้–ข้€ฃใ‚’ๆŒ‡ๆ‘˜ใ™ใ‚‹ๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆ•ฐใฏๅฐ‘ใชใ„ใ‚‚ใฎใฎใ€PLSใฎๅ‰–ๆคœไพ‹ใฏALSใ‚„ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฏ็•ฐใชใ‚‹็—…็†ๅƒใ‚’็คบใ—ใฆใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่‡จๅบŠ็š„ใซใฏๅฎถๆ—ๆญดใฎๆ˜Žใ‚‰ใ‹ใงใชใ„้บไผๆ€ง็—™ๆ€งๅฏพ้บป็—บใจใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ใ“ใฎ็‚นใซ็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ€€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใก็ด„1.6๏ฝž4.4๏ผ…ใŒPLSใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใง2005ๅนดใ‹ใ‚‰2006ๅนดใซใ‹ใ‘ใฆๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใ‚’ๅฎŸๆ–ฝใ—ใŸใจใ“ใ‚ใ€ๆ—ฅๆœฌใงใฎๆœ‰็—…็Ž‡ใฏใ€็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡็—‡ไพ‹ใฎ๏ผ’๏ผ…ใจใ„ใ†็ตๆžœใงใ‚ใฃใŸใ€‚ - 1200008 - + + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IVๅž‹ + + + 4 + ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆprimary lateral sclerosis๏ผšPLS๏ผ‰ใฏใ€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใกใงไธ€ๆฌก๏ผˆไธŠไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฎใฟใŒ้ธๆŠž็š„ใ€้€ฒ่กŒๆ€งใซ้šœๅฎณใ•ใ‚Œใ€ไบŒๆฌก๏ผˆไธ‹ไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฏไฟใŸใ‚Œใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใ‹ใ‚‰ไธญๅนดไปฅ้™ใซใ‚ใŸใฃใฆๅน…ๅบƒใ„ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡ใฏใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ้šœๅฎณใŒๅ‰้ขใซๅ‡บใŸ็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆamyotrophic lateral sclerosis๏ผšALS๏ผ‰ใจใฎ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใชๅ ดๅˆใŒใ‚ใ‚Šใ€ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฎ้–ข้€ฃใ‚’ๆŒ‡ๆ‘˜ใ™ใ‚‹ๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆ•ฐใฏๅฐ‘ใชใ„ใ‚‚ใฎใฎใ€PLSใฎๅ‰–ๆคœไพ‹ใฏALSใ‚„ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฏ็•ฐใชใ‚‹็—…็†ๅƒใ‚’็คบใ—ใฆใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่‡จๅบŠ็š„ใซใฏๅฎถๆ—ๆญดใฎๆ˜Žใ‚‰ใ‹ใงใชใ„้บไผๆ€ง็—™ๆ€งๅฏพ้บป็—บใจใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ใ“ใฎ็‚นใซ็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ€€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใก็ด„1.6๏ฝž4.4๏ผ…ใŒPLSใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใง2005ๅนดใ‹ใ‚‰2006ๅนดใซใ‹ใ‘ใฆๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใ‚’ๅฎŸๆ–ฝใ—ใŸใจใ“ใ‚ใ€ๆ—ฅๆœฌใงใฎๆœ‰็—…็Ž‡ใฏใ€็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡็—‡ไพ‹ใฎ๏ผ’๏ผ…ใจใ„ใ†็ตๆžœใงใ‚ใฃใŸใ€‚ + NANDO:1200008 + Primary lateral sclerosis + ใ’ใ‚“ใฑใคใ›ใ„ใใใ•ใใ“ใ†ใ‹ใ—ใ‚‡ใ† ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡ - - + + + PLS ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡ - - 5 - ้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ๏ผˆprogressive supranuclea palsy๏ผšPSP๏ผ‰ใฏใ€ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ๆทก่’ผ็ƒใ€่ฆ–ๅบŠไธ‹ๆ ธใ€ๅฐ่„ณๆญฏ็Šถๆ ธใ€่ตคๆ ธใ€้ป’่ณชใ€่„ณๅนน่ขซ่“‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆ่›‹็™ฝใŒ็ฅž็ตŒ็ดฐ่ƒžๅ†…ๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆๅ†…ใฎtuft of abnormal fibers๏ผˆtufted astrocytes๏ผ‰ใŒใ€PSPใซ็‰น็•ฐ็š„ใชๆ‰€่ฆ‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็ฅž็ตŒๅญฆ็š„ใซใฏใ€ๆ˜“่ปขๅ€’ๆ€งใ€ๆ ธไธŠๆ€งๆณจ่ฆ–้บป็—บใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ€่ช็Ÿฅ็—‡ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็™บ็—‡ใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็”ทๆ€งใซๅคšใ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅˆ็™บ็—‡็Šถใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใซไผผใฆใ„ใ‚‹ใŒใ€ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใฏใพใ‚Œใงใ€ๆญฉ่กŒๆ™‚ใฎๆ˜“่ปขๅ€’ๆ€งใ€ใ™ใใฟ่ถณใ€ๅงฟๅ‹ขไฟๆŒ้šœๅฎณใŒ็›ฎ็ซ‹ใคใ€‚้€ฒ่กŒใ™ใ‚‹ใซใคใ‚Œใฆใ€้ ธ้ƒจใฎๅพŒๅฑˆใจๅใ‚Š่ฟ”ใฃใŸๅงฟๅ‹ขใ€ๅž‚็›ดๆ€งๆ ธไธŠๆ€ง็œผ็ƒ้‹ๅ‹•้šœๅฎณ๏ผˆๅˆๆœŸใซใฏใ€็œผ็ƒ้‹ๅ‹•ใฎ้šๆ„็š„ไธŠไธ‹ๆ–นๅ‘้‹ๅ‹•ใŒ้…ใใชใ‚Šใ€ใคใ„ใซใฏไธ‹ๆ–น่ฆ–ใŒใงใใชใใชใ‚‹ใ€‚๏ผ‰ใ€ๆง‹้Ÿณ้šœๅฎณใ‚„ๅšฅไธ‹้šœๅฎณใ€ๆƒณ่ตท้šœๅฎณใจๆ€่€ƒใฎ็ทฉๆ…ขใ‚’็‰นๅพดใจใ™ใ‚‹่ช็Ÿฅ็—‡ใ‚„ๆณจๆ„ๅŠ›ไฝŽไธ‹ใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๅพใ€…ใซๆญฉ่กŒไธ่ƒฝใ€็ซ‹ไฝไฟๆŒไธ่ƒฝใจใชใฃใฆใ€ๅฏใŸใใ‚Šใซใชใ‚‹ใ€‚ - 1200009 - + + 5 + ้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ๏ผˆprogressive supranuclea palsy๏ผšPSP๏ผ‰ใฏใ€ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ๆทก่’ผ็ƒใ€่ฆ–ๅบŠไธ‹ๆ ธใ€ๅฐ่„ณๆญฏ็Šถๆ ธใ€่ตคๆ ธใ€้ป’่ณชใ€่„ณๅนน่ขซ่“‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆ่›‹็™ฝใŒ็ฅž็ตŒ็ดฐ่ƒžๅ†…ๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆๅ†…ใฎtuft of abnormal fibers๏ผˆtufted astrocytes๏ผ‰ใŒใ€PSPใซ็‰น็•ฐ็š„ใชๆ‰€่ฆ‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็ฅž็ตŒๅญฆ็š„ใซใฏใ€ๆ˜“่ปขๅ€’ๆ€งใ€ๆ ธไธŠๆ€งๆณจ่ฆ–้บป็—บใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ€่ช็Ÿฅ็—‡ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็™บ็—‡ใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็”ทๆ€งใซๅคšใ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅˆ็™บ็—‡็Šถใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใซไผผใฆใ„ใ‚‹ใŒใ€ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใฏใพใ‚Œใงใ€ๆญฉ่กŒๆ™‚ใฎๆ˜“่ปขๅ€’ๆ€งใ€ใ™ใใฟ่ถณใ€ๅงฟๅ‹ขไฟๆŒ้šœๅฎณใŒ็›ฎ็ซ‹ใคใ€‚้€ฒ่กŒใ™ใ‚‹ใซใคใ‚Œใฆใ€้ ธ้ƒจใฎๅพŒๅฑˆใจๅใ‚Š่ฟ”ใฃใŸๅงฟๅ‹ขใ€ๅž‚็›ดๆ€งๆ ธไธŠๆ€ง็œผ็ƒ้‹ๅ‹•้šœๅฎณ๏ผˆๅˆๆœŸใซใฏใ€็œผ็ƒ้‹ๅ‹•ใฎ้šๆ„็š„ไธŠไธ‹ๆ–นๅ‘้‹ๅ‹•ใŒ้…ใใชใ‚Šใ€ใคใ„ใซใฏไธ‹ๆ–น่ฆ–ใŒใงใใชใใชใ‚‹ใ€‚๏ผ‰ใ€ๆง‹้Ÿณ้šœๅฎณใ‚„ๅšฅไธ‹้šœๅฎณใ€ๆƒณ่ตท้šœๅฎณใจๆ€่€ƒใฎ็ทฉๆ…ขใ‚’็‰นๅพดใจใ™ใ‚‹่ช็Ÿฅ็—‡ใ‚„ๆณจๆ„ๅŠ›ไฝŽไธ‹ใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๅพใ€…ใซๆญฉ่กŒไธ่ƒฝใ€็ซ‹ไฝไฟๆŒไธ่ƒฝใจใชใฃใฆใ€ๅฏใŸใใ‚Šใซใชใ‚‹ใ€‚ + NANDO:1200009 + Progressive supranuclear palsy + ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใใ˜ใ‚‡ใ†ใ›ใ„ใพใฒ ้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ - - + + + PSP ้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ - - 6 - ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใฏใ€้ป’่ณชใฎใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ดฐ่ƒžใฎๅค‰ๆ€งใ‚’ไธปไฝ“ใจใ™ใ‚‹้€ฒ่กŒๆ€งๅค‰ๆˆ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผ”ๅคง็—‡็Šถใจใ—ใฆ(๏ผ‘)ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใ€(๏ผ’)็ญ‹ๅผทๅ‰›๏ผˆ็ญ‹ๅ›บ็ธฎ๏ผ‰ใ€(๏ผ“)็„กๅ‹•ใƒปๅฏกๅ‹•ใ€(๏ผ”)ๅงฟๅ‹ขๅๅฐ„้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ“ใฎใปใ‹(๏ผ•)ๅŒๆ™‚ใซ๏ผ’ใคใฎๅ‹•ไฝœใ‚’ใ™ใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ€(๏ผ–)่‡ช็”ฑใซใƒชใ‚บใƒ ใ‚’ไฝœใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ‚’ๅŠ ใˆใ‚‹ใจใ€ใปใจใ‚“ใฉใฎ้‹ๅ‹•็—‡็Šถใ‚’่ชฌๆ˜Žใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚่ฟ‘ๅนดใงใฏ้‹ๅ‹•็—‡็Šถใฎใฟใชใ‚‰ใšใ€็ฒพ็ฅž็—‡็Šถใชใฉใฎ้ž้‹ๅ‹•็—‡็Šถใ‚‚ๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ50๏ฝž65ๆญณใซๅคšใ„ใŒใ€้ซ˜้ฝขใซใชใ‚‹ใปใฉ็™บ็—…็Ž‡ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚40ๆญณไปฅไธ‹ใง็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฏ่‹ฅๅนดๆ€งใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ“ใฎไธญใซใฏ้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ - 1200010 - - Parkinson's Disease + + 6 + ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใฏใ€้ป’่ณชใฎใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ดฐ่ƒžใฎๅค‰ๆ€งใ‚’ไธปไฝ“ใจใ™ใ‚‹้€ฒ่กŒๆ€งๅค‰ๆˆ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผ”ๅคง็—‡็Šถใจใ—ใฆ(๏ผ‘)ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใ€(๏ผ’)็ญ‹ๅผทๅ‰›๏ผˆ็ญ‹ๅ›บ็ธฎ๏ผ‰ใ€(๏ผ“)็„กๅ‹•ใƒปๅฏกๅ‹•ใ€(๏ผ”)ๅงฟๅ‹ขๅๅฐ„้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ“ใฎใปใ‹(๏ผ•)ๅŒๆ™‚ใซ๏ผ’ใคใฎๅ‹•ไฝœใ‚’ใ™ใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ€(๏ผ–)่‡ช็”ฑใซใƒชใ‚บใƒ ใ‚’ไฝœใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ‚’ๅŠ ใˆใ‚‹ใจใ€ใปใจใ‚“ใฉใฎ้‹ๅ‹•็—‡็Šถใ‚’่ชฌๆ˜Žใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚่ฟ‘ๅนดใงใฏ้‹ๅ‹•็—‡็Šถใฎใฟใชใ‚‰ใšใ€็ฒพ็ฅž็—‡็Šถใชใฉใฎ้ž้‹ๅ‹•็—‡็Šถใ‚‚ๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ50๏ฝž65ๆญณใซๅคšใ„ใŒใ€้ซ˜้ฝขใซใชใ‚‹ใปใฉ็™บ็—…็Ž‡ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚40ๆญณไปฅไธ‹ใง็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฏ่‹ฅๅนดๆ€งใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ“ใฎไธญใซใฏ้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:1200010 + + Parkinson's disease + ใฑใƒผใใ‚“ใใ‚“ใณใ‚‡ใ† ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—… - - + + + PD Parkinson disease ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—… - - 7 - ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡๏ผˆcorticobasal degeneration๏ผšCBD๏ผ‰ใฏใ€ๅคง่„ณ็šฎ่ณชใจ็šฎ่ณชไธ‹็ฅž็ตŒๆ ธ๏ผˆ็‰นใซใ€้ป’่ณชใจๆทก่’ผ็ƒ๏ผ‰ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็ฅž็ตŒ็ดฐ่ƒžๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆใŒ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏใ€(๏ผ‘)ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ€(๏ผ’)ๅคง่„ณ็šฎ่ณชๅพดๅ€™ใจใ—ใฆ่‚ข็ฏ€้‹ๅ‹•ๅคฑ่กŒใ€่ฆณๅฟต้‹ๅ‹•ๅคฑ่กŒใ€็šฎ่ณชๆ€งๆ„Ÿ่ฆš้šœๅฎณใ€ๆŠŠๆกๅๅฟœใ€ไป–ไบบใฎๆ‰‹ๅพดๅ€™ใชใฉใŒ็พใ‚Œใ€ๅŠใณ(๏ผ“)้Œไฝ“ๅค–่ทฏๅพดๅ€™ใจใ—ใฆ็„กๅ‹•ใƒป็ญ‹ๅผทๅ‰›ใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใŒๅ‡บ็พใ—ใ€(๏ผ”)ใ“ใ‚Œใ‚‰ใฎ็ฅž็ตŒ็—‡ๅ€™ใซ้ก•่‘—ใชๅทฆๅณๅทฎใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ‰–ๆคœไพ‹ใฎ้›†็ฉใซใ‚ˆใ‚Šใ€ๅทฆๅณๅทฎใฎใชใ„ไพ‹ใ€่ช็Ÿฅ็—‡ใ‚„ๅคฑ่ชžใŒๅ‰ๆ™ฏใซใŸใคไพ‹ใ€้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บใฎ่‡จๅบŠ็—‡ๅ€™ใ‚’ๅ‘ˆใ—ใŸไพ‹ใชใฉ้žๅ…ธๅž‹ไพ‹ใŒๆ•ฐๅคšใๅ ฑๅ‘Šใ•ใ‚Œใ€CBDใฎ่‡จๅบŠๅƒใฏๆฅตใ‚ใฆๅคšๅฝฉใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ - 1200011 - + + 7 + ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡๏ผˆcorticobasal degeneration๏ผšCBD๏ผ‰ใฏใ€ๅคง่„ณ็šฎ่ณชใจ็šฎ่ณชไธ‹็ฅž็ตŒๆ ธ๏ผˆ็‰นใซใ€้ป’่ณชใจๆทก่’ผ็ƒ๏ผ‰ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็ฅž็ตŒ็ดฐ่ƒžๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆใŒ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏใ€(๏ผ‘)ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ€(๏ผ’)ๅคง่„ณ็šฎ่ณชๅพดๅ€™ใจใ—ใฆ่‚ข็ฏ€้‹ๅ‹•ๅคฑ่กŒใ€่ฆณๅฟต้‹ๅ‹•ๅคฑ่กŒใ€็šฎ่ณชๆ€งๆ„Ÿ่ฆš้šœๅฎณใ€ๆŠŠๆกๅๅฟœใ€ไป–ไบบใฎๆ‰‹ๅพดๅ€™ใชใฉใŒ็พใ‚Œใ€ๅŠใณ(๏ผ“)้Œไฝ“ๅค–่ทฏๅพดๅ€™ใจใ—ใฆ็„กๅ‹•ใƒป็ญ‹ๅผทๅ‰›ใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใŒๅ‡บ็พใ—ใ€(๏ผ”)ใ“ใ‚Œใ‚‰ใฎ็ฅž็ตŒ็—‡ๅ€™ใซ้ก•่‘—ใชๅทฆๅณๅทฎใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ‰–ๆคœไพ‹ใฎ้›†็ฉใซใ‚ˆใ‚Šใ€ๅทฆๅณๅทฎใฎใชใ„ไพ‹ใ€่ช็Ÿฅ็—‡ใ‚„ๅคฑ่ชžใŒๅ‰ๆ™ฏใซใŸใคไพ‹ใ€้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บใฎ่‡จๅบŠ็—‡ๅ€™ใ‚’ๅ‘ˆใ—ใŸไพ‹ใชใฉ้žๅ…ธๅž‹ไพ‹ใŒๆ•ฐๅคšใๅ ฑๅ‘Šใ•ใ‚Œใ€CBDใฎ่‡จๅบŠๅƒใฏๆฅตใ‚ใฆๅคšๅฝฉใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ + NANDO:1200011 + Corticobasal degeneration + ใ ใ„ใฎใ†ใฒใ—ใคใใฆใ„ใ‹ใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡ - - + + + CBD ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡ - - 8 - ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆง˜ๅผใ‚’ใจใ‚Šใ€่ˆž่ธ็—…้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็Šถใ€่ช็Ÿฅ็—‡ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ๏ผ‘ใคใงใ€็—…ๅ› ้บไผๅญใฏ็ฌฌ๏ผ”ๆŸ“่‰ฒไฝ“็Ÿญ่…•4p16.3ใฎHTTใงใ‚ใ‚‹ใ€‚้บไผๅญ็”ฃ็‰ฉใฏhuntingtinใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚ๆตธ้€ใฎ้ซ˜ใ„้บไผ็—…ใจใ•ใ‚ŒใฆใŠใ‚Šใ€็’ฐๅขƒใซใ‚ˆใ‚‹็™บ็—‡็Ž‡ใฎๅทฎ็•ฐใฏๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ็‰นๅพดใจใ—ใฆใฎ่กจ็พไฟƒ้€ฒ็พ่ฑกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€ไธปใจใ—ใฆๆˆไบบใซ็™บ็—‡ใ—ใ€ๅฅฝ็™บๅนด้ฝขใฏ30ๆญณๅฐใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ๆœŸใ‹ใ‚‰่€้ฝขๆœŸใพใงๆง˜ใ€…ใชๅนด้ฝขใงใฎ็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๅทฎใฏใชใ„ใ€‚็ด„10๏ผ…ใฎ็—‡ไพ‹ใฏ20ๆญณไปฅไธ‹ใง็™บ็—‡ใ—ใ€่‹ฅๅนดๅž‹ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใจ็งฐใ™ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใฎใŸใ‚ใ€ๅคšใใฏไธก่ฆชใฎใฉใกใ‚‰ใ‹ใŒๆœฌ็—‡ใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹ใŒใ€ๅฐๅ…ๆœŸ็™บ็—‡ไพ‹๏ผˆ็‰นใซๅนผๅ…ๆœŸ็™บ็—‡ไพ‹๏ผ‰ใฎๅ ดๅˆใซใฏใ€่กจ็พไฟƒ้€ฒ็พ่ฑกใฎใŸใ‚ๅฐๅ…็™บ็—‡่€…ใฎ้บไผๅญ่จบๆ–ญใŒใ€ไธก่ฆชใฎใฉใกใ‚‰ใ‹ใซใจใฃใฆใฎ็™บ็—‡ๅ‰่จบๆ–ญใจใชใฃใฆใ—ใพใ†ใ“ใจใ‚‚ใ‚ใ‚Š็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็ฝน็—…ๆœŸ้–“ใฏไธ€่ˆฌใซ10๏ฝž20ๅนดใงใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใงใฏใ€่ˆž่ธ้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็ŠถใจใŒใ‚ใ‚‹ใ€‚่ˆž่ธ้‹ๅ‹•ใฏๆ—ฉๆœŸใซใฏๅ››่‚ข้ ไฝ้ƒจใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌก็ฌฌใซๅ…จ่บซๆ€งใจใชใ‚Šใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉไป–ใฎไธ้šๆ„้‹ๅ‹•ใŒๅŠ ใ‚ใ‚‹ใ€‚้‹ๅ‹•ใฎๆŒ็ถš้šœๅฎณใŒใ‚ใ‚Šใ€่ปขๅ€’ใ€ๆ‰‹ใฎๆŠŠๆŒๆŒ็ถš้šœๅฎณใฎ่ฆๅ› ใจใชใ‚‹ใ€‚็ฒพ็ฅž็—‡็Šถใซใฏไบบๆ ผ้šœๅฎณใจๆ˜“ๅˆบๆฟ€ๆ€งใ€ใ†ใคใชใฉใฎๆ„Ÿๆƒ…้šœๅฎณใจ่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚้€ฒ่กŒๆœŸใซใชใ‚‹ใจ็ซ‹ไฝไฟๆŒใŒไธ่ƒฝใจใชใ‚Šใ€่‡ฅๅบŠ็Šถๆ…‹ใจใชใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 1200012 - - Huntington's Disease + + 8 + ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆง˜ๅผใ‚’ใจใ‚Šใ€่ˆž่ธ็—…้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็Šถใ€่ช็Ÿฅ็—‡ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ๏ผ‘ใคใงใ€็—…ๅ› ้บไผๅญใฏ็ฌฌ๏ผ”ๆŸ“่‰ฒไฝ“็Ÿญ่…•4p16.3ใฎHTTใงใ‚ใ‚‹ใ€‚้บไผๅญ็”ฃ็‰ฉใฏhuntingtinใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚ๆตธ้€ใฎ้ซ˜ใ„้บไผ็—…ใจใ•ใ‚ŒใฆใŠใ‚Šใ€็’ฐๅขƒใซใ‚ˆใ‚‹็™บ็—‡็Ž‡ใฎๅทฎ็•ฐใฏๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ็‰นๅพดใจใ—ใฆใฎ่กจ็พไฟƒ้€ฒ็พ่ฑกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€ไธปใจใ—ใฆๆˆไบบใซ็™บ็—‡ใ—ใ€ๅฅฝ็™บๅนด้ฝขใฏ30ๆญณๅฐใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ๆœŸใ‹ใ‚‰่€้ฝขๆœŸใพใงๆง˜ใ€…ใชๅนด้ฝขใงใฎ็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๅทฎใฏใชใ„ใ€‚็ด„10๏ผ…ใฎ็—‡ไพ‹ใฏ20ๆญณไปฅไธ‹ใง็™บ็—‡ใ—ใ€่‹ฅๅนดๅž‹ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใจ็งฐใ™ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใฎใŸใ‚ใ€ๅคšใใฏไธก่ฆชใฎใฉใกใ‚‰ใ‹ใŒๆœฌ็—‡ใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹ใŒใ€ๅฐๅ…ๆœŸ็™บ็—‡ไพ‹๏ผˆ็‰นใซๅนผๅ…ๆœŸ็™บ็—‡ไพ‹๏ผ‰ใฎๅ ดๅˆใซใฏใ€่กจ็พไฟƒ้€ฒ็พ่ฑกใฎใŸใ‚ๅฐๅ…็™บ็—‡่€…ใฎ้บไผๅญ่จบๆ–ญใŒใ€ไธก่ฆชใฎใฉใกใ‚‰ใ‹ใซใจใฃใฆใฎ็™บ็—‡ๅ‰่จบๆ–ญใจใชใฃใฆใ—ใพใ†ใ“ใจใ‚‚ใ‚ใ‚Š็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็ฝน็—…ๆœŸ้–“ใฏไธ€่ˆฌใซ10๏ฝž20ๅนดใงใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใงใฏใ€่ˆž่ธ้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็ŠถใจใŒใ‚ใ‚‹ใ€‚่ˆž่ธ้‹ๅ‹•ใฏๆ—ฉๆœŸใซใฏๅ››่‚ข้ ไฝ้ƒจใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌก็ฌฌใซๅ…จ่บซๆ€งใจใชใ‚Šใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉไป–ใฎไธ้šๆ„้‹ๅ‹•ใŒๅŠ ใ‚ใ‚‹ใ€‚้‹ๅ‹•ใฎๆŒ็ถš้šœๅฎณใŒใ‚ใ‚Šใ€่ปขๅ€’ใ€ๆ‰‹ใฎๆŠŠๆŒๆŒ็ถš้šœๅฎณใฎ่ฆๅ› ใจใชใ‚‹ใ€‚็ฒพ็ฅž็—‡็Šถใซใฏไบบๆ ผ้šœๅฎณใจๆ˜“ๅˆบๆฟ€ๆ€งใ€ใ†ใคใชใฉใฎๆ„Ÿๆƒ…้šœๅฎณใจ่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚้€ฒ่กŒๆœŸใซใชใ‚‹ใจ็ซ‹ไฝไฟๆŒใŒไธ่ƒฝใจใชใ‚Šใ€่‡ฅๅบŠ็Šถๆ…‹ใจใชใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200012 + + Huntington's disease + ใฏใ‚“ใกใ‚“ใจใ‚“ใณใ‚‡ใ† ใƒใƒณใƒใƒณใƒˆใƒณ็—… - - + + Huntington disease ใƒใƒณใƒใƒณใƒˆใƒณ็—… - - 9 - ็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡ใซใฏใ€ๆ•ฐ็–พๆ‚ฃใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไปฃ่กจใฏใ€ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—…ใจMcLeod็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ใƒใƒณใƒใƒณใƒˆใƒณ็—…้กž็—‡ๅž‹๏ผˆHuntington disease-like2๏ผ‰ใ‚„ใƒ‘ใƒณใƒ†ใƒˆใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆPahtothenate kinase associated neurodegeneration๏ผšPKAN๏ผ‰๏ผˆใƒใƒฉใƒผใƒซใƒ•ใ‚ฉใƒซใƒ‡ใƒณใƒปใ‚ทใƒฅใƒ‘ใƒƒใƒ„็—‡ๅ€™็พค๏ผˆHallervorden Spatz syndrome๏ผ‰๏ผ‰ใชใฉใ‚‚ใ“ใฎ็พคใซๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆœซๆขข่ก€ใซๆœ‰ๆฃ˜่ตค่ก€็ƒใ‚’่ชใ‚ใ€็ฅž็ตŒๅญฆ็š„ใซใฏ่ˆž่ธ้‹ๅ‹•ใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใ‚’่ชใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฎ็–ซๅญฆ่ชฟๆŸปใงใฏๅ…จๅ›ฝใง็ด„100ไบบ็จ‹ๅบฆใฎๆ‚ฃ่€…ใŒ่ฆ‹ๅ‡บใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ - 1200013 - + + 9 + ็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡ใซใฏใ€ๆ•ฐ็–พๆ‚ฃใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไปฃ่กจใฏใ€ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—…ใจMcLeod็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ใƒใƒณใƒใƒณใƒˆใƒณ็—…้กž็—‡ๅž‹๏ผˆHuntington disease-like2๏ผ‰ใ‚„ใƒ‘ใƒณใƒ†ใƒˆใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆPahtothenate kinase associated neurodegeneration๏ผšPKAN๏ผ‰๏ผˆใƒใƒฉใƒผใƒซใƒ•ใ‚ฉใƒซใƒ‡ใƒณใƒปใ‚ทใƒฅใƒ‘ใƒƒใƒ„็—‡ๅ€™็พค๏ผˆHallervorden Spatz syndrome๏ผ‰๏ผ‰ใชใฉใ‚‚ใ“ใฎ็พคใซๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆœซๆขข่ก€ใซๆœ‰ๆฃ˜่ตค่ก€็ƒใ‚’่ชใ‚ใ€็ฅž็ตŒๅญฆ็š„ใซใฏ่ˆž่ธ้‹ๅ‹•ใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใ‚’่ชใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฎ็–ซๅญฆ่ชฟๆŸปใงใฏๅ…จๅ›ฝใง็ด„100ไบบ็จ‹ๅบฆใฎๆ‚ฃ่€…ใŒ่ฆ‹ๅ‡บใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ + NANDO:1200013 + Neuroacanthocytosis + ใ—ใ‚“ใ‘ใ„ใ‚†ใ†ใใ‚‡ใใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ† ็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡ - - - - + + ็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡ - - 9 - 1200014 - - Choreoacanthocytosis + + 9 + NANDO:1200014 + + Chorea-acanthocytosis + ใ‚†ใ†ใใ‚‡ใใ›ใฃใ‘ใฃใใ‚…ใ†ใถใจใ†ใณใ‚‡ใ† ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—… - - + + + ChAc + Choreoacanthocytosis ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—… - - 9 - 1200015 - + + 9 + NANDO:1200015 + McLeod syndrome Mcleod็—‡ๅ€™็พค + ใพใใ‚‰ใ†ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - - + + + MLS Mcleod็—‡ๅ€™็พค - - 10 - ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…๏ผˆCharcot-Marie-Tooth disease๏ผšCMT๏ผ‰ใฏใ€่‡จๅบŠ็—‡็Šถใ€้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€็ฅž็ตŒ็—…็†ๆ‰€่ฆ‹ใซๅŸบใฅใ„ใฆใ€่„ฑ้ซ„ๅž‹ใ€่ปธ็ดขๅž‹ใ€ไธญ้–“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่„ฑ้ซ„ๅž‹CMTใงใฏใ€ไธ€่ˆฌ็š„ใซ็ฅž็ตŒไผๅฐŽ้€Ÿๅบฆใฏ38m/sไปฅไธ‹ใ€ๆดปๅ‹•้›ปไฝใฏใปใผๆญฃๅธธๅˆใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏ็ฏ€ๆ€ง่„ฑ้ซ„ใ€onion bulb ใฎๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚่ปธ็ดขๅž‹CMTใงใฏใ€็ฅž็ตŒไผๅฐŽ้€ŸๅบฆใฏๆญฃๅธธใพใŸใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ™ใŒใ€ๆดปๅ‹•้›ปไฝใฏๆ˜Žใ‚‰ใ‹ใซไฝŽไธ‹ใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏๆœ‰้ซ„็ทš็ถญใฎ่‘—ๆ˜Žใชๆธ›ๅฐ‘ใ‚’็คบใ™ใ€‚ใ„ใšใ‚Œใจใ‚‚ๅˆ†ใ‘ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใฏใ€ไธญ้–“ๅž‹CMTใจใ—ใฆใ„ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒๆฌกใ€…ใจๆ˜Žใ‚‰ใ‹ใซใชใ‚Šใ€ใใฎ็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚ - 1200016 - + + 10 + ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…๏ผˆCharcot-Marie-Tooth disease๏ผšCMT๏ผ‰ใฏใ€่‡จๅบŠ็—‡็Šถใ€้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€็ฅž็ตŒ็—…็†ๆ‰€่ฆ‹ใซๅŸบใฅใ„ใฆใ€่„ฑ้ซ„ๅž‹ใ€่ปธ็ดขๅž‹ใ€ไธญ้–“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่„ฑ้ซ„ๅž‹CMTใงใฏใ€ไธ€่ˆฌ็š„ใซ็ฅž็ตŒไผๅฐŽ้€Ÿๅบฆใฏ38m/sไปฅไธ‹ใ€ๆดปๅ‹•้›ปไฝใฏใปใผๆญฃๅธธๅˆใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏ็ฏ€ๆ€ง่„ฑ้ซ„ใ€onion bulb ใฎๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚่ปธ็ดขๅž‹CMTใงใฏใ€็ฅž็ตŒไผๅฐŽ้€ŸๅบฆใฏๆญฃๅธธใพใŸใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ™ใŒใ€ๆดปๅ‹•้›ปไฝใฏๆ˜Žใ‚‰ใ‹ใซไฝŽไธ‹ใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏๆœ‰้ซ„็ทš็ถญใฎ่‘—ๆ˜Žใชๆธ›ๅฐ‘ใ‚’็คบใ™ใ€‚ใ„ใšใ‚Œใจใ‚‚ๅˆ†ใ‘ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใฏใ€ไธญ้–“ๅž‹CMTใจใ—ใฆใ„ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒๆฌกใ€…ใจๆ˜Žใ‚‰ใ‹ใซใชใ‚Šใ€ใใฎ็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚ + NANDO:1200016 + Charcot-Marie-Tooth disease + ใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ† ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - + + + CMT ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - 10 - 1200017 - + + 10 + NANDO:1200017 + Charcot-Marie-Tooth disease type 1 - ่„ฑ้ซ„ๅž‹CMT + ใ ใคใšใ„ใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ† + ่„ฑ้ซ„ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - + + + CMT1 + ่„ฑ้ซ„ๅž‹CMT - ่„ฑ้ซ„ๅž‹CMT + ่„ฑ้ซ„ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - 10 - 1200018 - + + 10 + NANDO:1200018 + Charcot-Marie-Tooth disease type 2 - ่ปธ็ดขๅž‹CMT + ใ˜ใใ•ใใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ† + ่ปธ็ดขๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - + + + CMT2 + ่ปธ็ดขๅž‹CMT - ่ปธ็ดขๅž‹CMT + ่ปธ็ดขๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - 10 - 1200019 - + + 10 + NANDO:1200019 + Intermediate Charcot-Marie-Tooth disease - ไธญ้–“ๅž‹CMT + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ† + ไธญ้–“ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - + + + Intermediate CMT + ไธญ้–“ๅž‹CMT - ไธญ้–“ๅž‹CMT + ไธญ้–“ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—… - - 11 - ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMG๏ผ‰ใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎๅˆ†ๅญใซๅฏพใ™ใ‚‹่‡“ๅ™จ็‰น็•ฐ็š„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใฏ่ƒธ่…บ่…ซใ‚„่ƒธ่…บ้Žๅฝขๆˆใชใฉใฎ่ƒธ่…บ็•ฐๅธธใŒๅˆไฝตใ™ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซใฎๆจ™็š„ๅˆ†ๅญใฏใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAChR๏ผ‰ใŒ85๏ผ…ใ€็ญ‹็‰น็•ฐ็š„ๅ—ๅฎนไฝ“ๅž‹ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใŒ5-10๏ผ…ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚LDLๅ—ๅฎนไฝ“้–ข้€ฃ่›‹็™ฝ4๏ผˆLrp4๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใŒใ€ไป–ใซใ‚‚้™ฝๆ€งใซใชใ‚‹็–พๆ‚ฃใŒใ‚ใ‚Šใ€ใใฎๆ„็พฉใซใคใ„ใฆใฏๆคœ่จŽใ‚’่ฆใ™ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏ้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใงใ€้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚Š็ญ‹ๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹๏ผˆๆ˜“็–ฒๅŠดๆ€ง๏ผ‰ใ€ๅค•ๆ–นใซ็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹๏ผˆๆ—ฅๅ†…ๅค‰ๅ‹•๏ผ‰ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏใ€็œผ็žผไธ‹ๅž‚ใ€่ค‡่ฆ–ใชใฉใฎ็œผ็—‡็Šถใ€ๅ››่‚ขใƒป้ ธ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹๏ฝคๆง‹้Ÿณ้šœๅฎณ๏ฝคๅšฅไธ‹้šœๅฎณใง๏ฝค้‡็—‡ไพ‹ใงใฏๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ - 1200020 - + + 11 + ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMG๏ผ‰ใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎๅˆ†ๅญใซๅฏพใ™ใ‚‹่‡“ๅ™จ็‰น็•ฐ็š„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใฏ่ƒธ่…บ่…ซใ‚„่ƒธ่…บ้Žๅฝขๆˆใชใฉใฎ่ƒธ่…บ็•ฐๅธธใŒๅˆไฝตใ™ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซใฎๆจ™็š„ๅˆ†ๅญใฏใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAChR๏ผ‰ใŒ85๏ผ…ใ€็ญ‹็‰น็•ฐ็š„ๅ—ๅฎนไฝ“ๅž‹ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใŒ5-10๏ผ…ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚LDLๅ—ๅฎนไฝ“้–ข้€ฃ่›‹็™ฝ4๏ผˆLrp4๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใŒใ€ไป–ใซใ‚‚้™ฝๆ€งใซใชใ‚‹็–พๆ‚ฃใŒใ‚ใ‚Šใ€ใใฎๆ„็พฉใซใคใ„ใฆใฏๆคœ่จŽใ‚’่ฆใ™ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏ้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใงใ€้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚Š็ญ‹ๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹๏ผˆๆ˜“็–ฒๅŠดๆ€ง๏ผ‰ใ€ๅค•ๆ–นใซ็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹๏ผˆๆ—ฅๅ†…ๅค‰ๅ‹•๏ผ‰ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏใ€็œผ็žผไธ‹ๅž‚ใ€่ค‡่ฆ–ใชใฉใฎ็œผ็—‡็Šถใ€ๅ››่‚ขใƒป้ ธ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹๏ฝคๆง‹้Ÿณ้šœๅฎณ๏ฝคๅšฅไธ‹้šœๅฎณใง๏ฝค้‡็—‡ไพ‹ใงใฏๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ + NANDO:1200020 + Myasthenia gravis + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† ้‡็—‡็ญ‹็„กๅŠ›็—‡ + - - + + + MG ้‡็—‡็ญ‹็„กๅŠ›็—‡ - - 12 - ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พคใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจๅˆ†ๅญใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅŠใณๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚„ๆ˜“็–ฒๅŠดๆ€งใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ๆฌ ๆ็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใฎใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃๆ™‚้–“ใŒ็•ฐๅธธๅปถ้•ทใ™ใ‚‹ใ€Œใ‚นใƒญใƒผใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€็•ฐๅธธ็Ÿญ็ธฎใ™ใ‚‹ใ€Œใƒ•ใ‚กใƒผใ‚นใƒˆใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€้ชจๆ ผ็ญ‹ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃไธๅ…จใ‚’่ตทใ“ใ™ใ€ŒใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ็ญ‹็„กๅŠ›็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅˆ†่งฃ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ใ€็ฅž็ตŒ็ต‚ๆœซใฎใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ†ๅˆๆˆ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็™บไฝœๆ€ง็„กๅ‘ผๅธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ใ€ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 1200021 - + + 12 + ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พคใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจๅˆ†ๅญใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅŠใณๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚„ๆ˜“็–ฒๅŠดๆ€งใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ๆฌ ๆ็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใฎใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃๆ™‚้–“ใŒ็•ฐๅธธๅปถ้•ทใ™ใ‚‹ใ€Œใ‚นใƒญใƒผใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€็•ฐๅธธ็Ÿญ็ธฎใ™ใ‚‹ใ€Œใƒ•ใ‚กใƒผใ‚นใƒˆใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€้ชจๆ ผ็ญ‹ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃไธๅ…จใ‚’่ตทใ“ใ™ใ€ŒใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ็ญ‹็„กๅŠ›็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅˆ†่งฃ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ใ€็ฅž็ตŒ็ต‚ๆœซใฎใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ†ๅˆๆˆ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็™บไฝœๆ€ง็„กๅ‘ผๅธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ใ€ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200021 + Congenital myasthenic syndrome + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พค - - + + + CMS ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พค - - 13 - ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆmultiple sclerosis๏ผšMS๏ผ‰ใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฎไธญใซใฏใ€่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆNeuromyelitis Optica Spectrum Disorders๏ผšNMOSD๏ผ‰ใฎ็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOSDใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚MSใจNMOSDใฏใ€็พๆ™‚็‚นใงใฏใ€๏ผ‘ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200022 - - Multiple sclerosis/Neuromyelitis Optica + + 13 + ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆmultiple sclerosis๏ผšMS๏ผ‰ใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฎไธญใซใฏใ€่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆNeuromyelitis Optica Spectrum Disorders๏ผšNMOSD๏ผ‰ใฎ็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOSDใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚MSใจNMOSDใฏใ€็พๆ™‚็‚นใงใฏใ€๏ผ‘ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200022 + + Multiple sclerosis/Neuromyelitis optica spectrum disorders + ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†๏ผใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“ ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž - - + + + MS/NMO + MS/NMOSD + Multiple sclerosis/Neuromyelitis optica ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž - - 13 - 1200023 - + + 13 + NANDO:1200023 + Multiple sclerosis + ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + - - + + + MS ๅคš็™บๆ€ง็กฌๅŒ–็—‡ - - 13 - 1200024 - - Relapsing-remittingย multiple sclerosis - ๅ†็™บๅฏ›่งฃๅž‹MS + + 13 + NANDO:1200024 + + Relapsing-remitting multiple sclerosis + ใ•ใ„ใฏใคใ‹ใ‚“ใ‹ใ„ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† + ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + - - + + + RRMS + relapsing-remitting MS + ๅ†็™บๅž‹MS + ๅ†็™บๅฏ›่งฃๅž‹MS - ๅ†็™บๅฏ›่งฃๅž‹MS - - - 13 - 1200025 - - primaryย progressiveย multiple sclerosis - ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS + ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + 13 + NANDO:1200025 + + Primary progressive multiple sclerosis + ใ„ใกใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† + ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + - - + + + PPMS + primary progressive MS + ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS - ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS - - - 13 - 1200026 - - secondaryย progressiveย multiple sclerosis - ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS + ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + 13 + NANDO:1200026 + + Secondary progressive multiple sclerosis + ใซใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† + ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + - - + + + SPMS + secondary progressive MS + ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS - ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS - - - 13 - 1200027 - - Neuromyelitis Optica + ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + 13 + NANDO:1200027 + + Neuromyelitis optica spectrum disorders + ใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“ ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž + - - + + + NMOSD ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž - - 13 - 1200028 - + + 13 + NANDO:1200028 + Balรณ concentric sclerosis Balรณ็—… + ใฐใ‚ใƒผใณใ‚‡ใ† - - + + + BCS + Balรณ's disease ใƒใƒญใƒผๅŒๅฟƒๅ††็กฌๅŒ–็—‡ Balรณ็—… - - 14 - ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ€๏ผ’ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใ‚ใ‚‹ใ„ใฏ้šŽๆฎตๆ€งใ€ๅ†็™บๆ€งใฎๅทฆๅณๅฏพ็งฐๆ€งใฎๅ››่‚ขใฎ้ ไฝใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใƒปๆ„Ÿ่ฆš้šœๅฎณใ‚’ไธปๅพดใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๆœซๆขข็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ๆœซๆขข็ฅž็ตŒใƒŸใ‚จใƒชใƒณใฎๆง‹ๆˆๆˆๅˆ†ใซๅฏพใ™ใ‚‹ๅ…็–ซ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใšใ‚‹่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ - 1200029 - - Chronic Inflammatory Demyelinating Polyneuropathy /Multifocal Motor Neuropathy + + 14 + ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ€๏ผ’ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใ‚ใ‚‹ใ„ใฏ้šŽๆฎตๆ€งใ€ๅ†็™บๆ€งใฎๅทฆๅณๅฏพ็งฐๆ€งใฎๅ››่‚ขใฎ้ ไฝใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใƒปๆ„Ÿ่ฆš้šœๅฎณใ‚’ไธปๅพดใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๆœซๆขข็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ๆœซๆขข็ฅž็ตŒใƒŸใ‚จใƒชใƒณใฎๆง‹ๆˆๆˆๅˆ†ใซๅฏพใ™ใ‚‹ๅ…็–ซ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใšใ‚‹่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ + NANDO:1200029 + + Chronic inflammatory demyelinating polyneuropathy/Multifocal motor neuropathy + ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“๏ผ ใŸใใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใซใ‚…ใƒผใ‚ใฑใกใƒผ ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - + + + CIDP/MMN ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - 14 - 1200030 - + + 14 + NANDO:1200030 + Chronic inflammatory demyelinating polyneuropathy + ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“ ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + - - - Chronic Inflammatory Demyelinating Polyneuropathy + + + CIDP + ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž - - 14 - 1200031 - + + 14 + NANDO:1200031 + Multifocal motor neuropathy + ใŸใใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใซใ‚…ใƒผใ‚ใฑใกใƒผ ๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - - Multifocal Motor Neuropathy + + + MMN ๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - 15 - ่‡จๅบŠ็š„ใซใฏไธญ้ซ˜ๅนดไปฅ้™ใซ็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใงๅ››่‚ขใ€็‰นใซๅคง่…ฟ้ƒจใ‚„ๆ‰‹ๆŒ‡ใƒปๆ‰‹้ฆ–ๅฑˆ็ญ‹ใ‚’ไพตใ—ใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ใซใ‚ˆใ‚‹ๅŠนๆžœใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚ไธ€ๆ™‚็š„ใงใ‚ใ‚‹ใ€‚็ญ‹ใธใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใ€็‰นใซ้žๅฃŠๆญป็ทš็ถญใธใฎๆตธๆฝคใŒ็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€‚็ญ‹็ทš็ถญใฎ็ธๅ–ใ‚Š็ฉบ่ƒžใจไฝตใ›ใฆ็ญ‹็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ - 1200032 - - Inclusion body myositis + + 15 + ่‡จๅบŠ็š„ใซใฏไธญ้ซ˜ๅนดไปฅ้™ใซ็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใงๅ››่‚ขใ€็‰นใซๅคง่…ฟ้ƒจใ‚„ๆ‰‹ๆŒ‡ใƒปๆ‰‹้ฆ–ๅฑˆ็ญ‹ใ‚’ไพตใ—ใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ใซใ‚ˆใ‚‹ๅŠนๆžœใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚ไธ€ๆ™‚็š„ใงใ‚ใ‚‹ใ€‚็ญ‹ใธใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใ€็‰นใซ้žๅฃŠๆญป็ทš็ถญใธใฎๆตธๆฝคใŒ็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€‚็ญ‹็ทš็ถญใฎ็ธๅ–ใ‚Š็ฉบ่ƒžใจไฝตใ›ใฆ็ญ‹็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200032 + + Sporadic inclusion body myositis + ใตใ†ใซใ‚…ใ†ใŸใ„ใใ‚“ใˆใ‚“ ๅฐๅ…ฅไฝ“็ญ‹็‚Ž - - + + + sIBM ๅฐๅ…ฅไฝ“็ญ‹็‚Ž - - 16 - ใ“ใ‚Œใพใงใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ๏ผˆCrowโ€Fukase๏ผ‰็—‡ๅ€™็พคใ€POEMS๏ผˆPolyneuropathy, Organomegaly, Endocrinopathy, M-Protein, and Skin Changes Syndrome๏ผ‰็—‡ๅ€™็พคใ€้ซ˜ๆœˆ็—…ใ€PEP็—‡ๅ€™็พคใชใฉใฎๅ็งฐใงๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏๅ…จใฆๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœฌ้‚ฆใซใŠใ„ใฆใฏใ€ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พคใ€ๆฌง็ฑณใงใฏPOEMS็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚POEMSใจใฏใ€ๅคš็™บๆ€ง็ฅž็ตŒ็‚Žใ€่‡“ๅ™จ่…ซๅคงใ€ๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ€M่›‹็™ฝใ€็šฎ่†š็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’่กจใ—ใฆใ„ใ‚‹ใ€‚1997ๅนดใซใ€ๆœฌ็—‡ๅ€™็พคๆ‚ฃ่€…่ก€ๆธ…ไธญใฎ่ก€็ฎกๅ†…็šฎๅข—ๆฎ–ๅ› ๅญ๏ผˆVEGF๏ผ‰ใŒ็•ฐๅธธ้ซ˜ๅ€คใจใชใฃใฆใ„ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆไปฅๆฅใ€VEGFใŒๅคšๅฝฉใช็—‡็Šถใ‚’ๆƒน่ตทใ—ใฆใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€ๆœฌ็—‡ๅ€™็พคใฏใ€ๅฝข่ณช็ดฐ่ƒžๅ˜ใ‚ฏใƒญใƒผใƒณๆ€งๅข—ๆฎ–ใŒๅŸบ็คŽใซๅญ˜ๅœจใ—ใ€ๅคš็™บใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใ‚’ๅฟ…้ ˆใจใ—ใฆใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ไฝตๅญ˜ใ™ใ‚‹็—‡ๅ€™็พคใจๅฎš็พฉใ—ๅพ—ใ‚‹ใ€‚ใ€€็–ซๅญฆใจใ—ใฆใฏใ€ๆทฑ็€ฌใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆๅคšใใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚็™บ็—‡ใซๅœฐๅŸŸ็‰น็•ฐๆ€งใฏใชใใ€ๅ…จๅ›ฝใซๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ใพใŸใ€็™บ็—‡ใฏ20ๆญณไปฃใ‹ใ‚‰80ๆญณไปฃใจๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ็”ทๅฅณใจใ‚‚ใซ48ๆญณใงใ‚ใ‚Šใ€ๅคš็™บๆ€ง้ชจ้ซ„่…ซใซๆฏ”่ผƒใ—ใฆ็ด„10ๆญณ่‹ฅใ„ใ€‚2004ๅนดใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œๅ…็–ซๆ€ง็ฅž็ตŒ็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใ€ใซใ‚ˆใ‚‹ๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๅ›ฝๅ†…ใซ็ด„340ๅใฎๆ‚ฃ่€…ใŒใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚ŒใŸใ€‚ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏๅฐ‘ใชใใ€ๆ—ฅๆœฌใซใŠใ„ใฆใ‚ˆใ‚Š้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200033 - + + 16 + ใ“ใ‚Œใพใงใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ๏ผˆCrowโ€Fukase๏ผ‰็—‡ๅ€™็พคใ€POEMS๏ผˆPolyneuropathy, Organomegaly, Endocrinopathy, M-Protein, and Skin Changes Syndrome๏ผ‰็—‡ๅ€™็พคใ€้ซ˜ๆœˆ็—…ใ€PEP็—‡ๅ€™็พคใชใฉใฎๅ็งฐใงๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏๅ…จใฆๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœฌ้‚ฆใซใŠใ„ใฆใฏใ€ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พคใ€ๆฌง็ฑณใงใฏPOEMS็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚POEMSใจใฏใ€ๅคš็™บๆ€ง็ฅž็ตŒ็‚Žใ€่‡“ๅ™จ่…ซๅคงใ€ๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ€M่›‹็™ฝใ€็šฎ่†š็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’่กจใ—ใฆใ„ใ‚‹ใ€‚1997ๅนดใซใ€ๆœฌ็—‡ๅ€™็พคๆ‚ฃ่€…่ก€ๆธ…ไธญใฎ่ก€็ฎกๅ†…็šฎๅข—ๆฎ–ๅ› ๅญ๏ผˆVEGF๏ผ‰ใŒ็•ฐๅธธ้ซ˜ๅ€คใจใชใฃใฆใ„ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆไปฅๆฅใ€VEGFใŒๅคšๅฝฉใช็—‡็Šถใ‚’ๆƒน่ตทใ—ใฆใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€ๆœฌ็—‡ๅ€™็พคใฏใ€ๅฝข่ณช็ดฐ่ƒžๅ˜ใ‚ฏใƒญใƒผใƒณๆ€งๅข—ๆฎ–ใŒๅŸบ็คŽใซๅญ˜ๅœจใ—ใ€ๅคš็™บใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใ‚’ๅฟ…้ ˆใจใ—ใฆใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ไฝตๅญ˜ใ™ใ‚‹็—‡ๅ€™็พคใจๅฎš็พฉใ—ๅพ—ใ‚‹ใ€‚ใ€€็–ซๅญฆใจใ—ใฆใฏใ€ๆทฑ็€ฌใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆๅคšใใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚็™บ็—‡ใซๅœฐๅŸŸ็‰น็•ฐๆ€งใฏใชใใ€ๅ…จๅ›ฝใซๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ใพใŸใ€็™บ็—‡ใฏ20ๆญณไปฃใ‹ใ‚‰80ๆญณไปฃใจๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ็”ทๅฅณใจใ‚‚ใซ48ๆญณใงใ‚ใ‚Šใ€ๅคš็™บๆ€ง้ชจ้ซ„่…ซใซๆฏ”่ผƒใ—ใฆ็ด„10ๆญณ่‹ฅใ„ใ€‚2004ๅนดใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œๅ…็–ซๆ€ง็ฅž็ตŒ็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใ€ใซใ‚ˆใ‚‹ๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๅ›ฝๅ†…ใซ็ด„340ๅใฎๆ‚ฃ่€…ใŒใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚ŒใŸใ€‚ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏๅฐ‘ใชใใ€ๆ—ฅๆœฌใซใŠใ„ใฆใ‚ˆใ‚Š้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200033 + Crow-Fukase syndrome + ใใ‚ใ†ใƒปใตใ‹ใ›ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พค - - + + + POEMS syndrome + POEMS็—‡ๅ€™็พค + Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes syndrome ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พค - - 17 - ๅคš็ณป็ตฑ่Ž็ธฎ็—‡๏ผˆmultiple system atrophy๏ผšMSA๏ผ‰ใฏๆˆๅนดๆœŸ๏ผˆ30ๆญณไปฅ้™ใ€ๅคšใใฏ40ๆญณไปฅ้™๏ผ‰ใซ็™บ็—‡ใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใซไธๆบถๅŒ–ใ—ใŸฮฑใ‚ทใƒŒใ‚ฏใƒฌใ‚คใƒณใŒ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ดฐ่ƒžๅค‰ๆ€ง่„ฑ่ฝใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆ็™บใ‹ใ‚‰็—…ๅˆๆœŸใฎ็—‡ๅ€™ใŒๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ชใƒชใƒผใƒ–ๆฉ‹ๅฐ่„ณ่Ž็ธฎ็—‡๏ผˆolivopontocerebellar atrophy๏ผšOPCA๏ผ‰ใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใงใ‚ใ‚‹ใ‚‚ใฎใฏ็ทšๆกไฝ“้ป’่ณชๅค‰ๆ€ง็—‡ใ€ใใ—ใฆ็‰นใซ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใชใฉ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใฎ้ก•่‘—ใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ทใƒฃใ‚คใƒปใƒ‰ใƒฌใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใจๅ„ใ€…ใฎๅŽŸ่‘—ใซๅพ“ใ„็งฐใ•ใ‚ŒใฆใใŸใ€‚ใ„ใšใ‚Œใ‚‚้€ฒ่กŒใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ไธ‰ๅคง็—‡ๅ€™ใฏ้‡่ค‡ใ—ใฆใใ‚‹ใ“ใจใ€็”ปๅƒ่จบๆ–ญใงใ‚‚่„ณๅนนใจๅฐ่„ณใฎ่Ž็ธฎใ‚„็ทšๆกไฝ“ใฎ็•ฐๅธธ็ญ‰ใฎๆ‰€่ฆ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใ‹ใค็ต„็น”็—…็†ใ‚‚ๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅคš็ณป็ตฑ่Ž็ธฎ็—‡ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ - 1200034 - + + 17 + ๅคš็ณป็ตฑ่Ž็ธฎ็—‡๏ผˆmultiple system atrophy๏ผšMSA๏ผ‰ใฏๆˆๅนดๆœŸ๏ผˆ30ๆญณไปฅ้™ใ€ๅคšใใฏ40ๆญณไปฅ้™๏ผ‰ใซ็™บ็—‡ใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใซไธๆบถๅŒ–ใ—ใŸฮฑใ‚ทใƒŒใ‚ฏใƒฌใ‚คใƒณใŒ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ดฐ่ƒžๅค‰ๆ€ง่„ฑ่ฝใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆ็™บใ‹ใ‚‰็—…ๅˆๆœŸใฎ็—‡ๅ€™ใŒๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ชใƒชใƒผใƒ–ๆฉ‹ๅฐ่„ณ่Ž็ธฎ็—‡๏ผˆolivopontocerebellar atrophy๏ผšOPCA๏ผ‰ใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใงใ‚ใ‚‹ใ‚‚ใฎใฏ็ทšๆกไฝ“้ป’่ณชๅค‰ๆ€ง็—‡ใ€ใใ—ใฆ็‰นใซ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใชใฉ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใฎ้ก•่‘—ใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ทใƒฃใ‚คใƒปใƒ‰ใƒฌใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใจๅ„ใ€…ใฎๅŽŸ่‘—ใซๅพ“ใ„็งฐใ•ใ‚ŒใฆใใŸใ€‚ใ„ใšใ‚Œใ‚‚้€ฒ่กŒใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ไธ‰ๅคง็—‡ๅ€™ใฏ้‡่ค‡ใ—ใฆใใ‚‹ใ“ใจใ€็”ปๅƒ่จบๆ–ญใงใ‚‚่„ณๅนนใจๅฐ่„ณใฎ่Ž็ธฎใ‚„็ทšๆกไฝ“ใฎ็•ฐๅธธ็ญ‰ใฎๆ‰€่ฆ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใ‹ใค็ต„็น”็—…็†ใ‚‚ๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅคš็ณป็ตฑ่Ž็ธฎ็—‡ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ + NANDO:1200034 + Multiple system atrophy + ใŸใ‘ใ„ใจใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ๅคš็ณป็ตฑ่Ž็ธฎ็—‡ - + + MSA ๅคš็ณป็ตฑ่Ž็ธฎ็—‡ - - 17 - 1200035 - + + 17 + NANDO:1200035 + MSA-C Multiple system atrophy, cerebellar type + ใˆใ‚€ใˆใ™ใˆใƒผใ—ใƒผ - + + MSA-C + Multiple system atrophy, cerebellar variant + ๅฐ่„ณๅคฑ่ชฟๅ„ชไฝๅž‹ MSA-C - - 17 - 1200036 - + + 17 + NANDO:1200036 + MSA-P - Multiple system atrophy,ย parkinsonianย type + Multiple system atrophy, Parkinsonian type + ใˆใ‚€ใˆใ™ใˆใƒผใดใƒผ - + + MSA-P + Multiple system atrophy, parkinsonian variant MSA-P - - 18 - ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆๅคš็ณป็ตฑ้šœๅฎณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅŒใ˜ใใ€็ทฉๆ…ข้€ฒ่กŒๆ€งใฎ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใซใŠใ„ใฆใฏใ€่‡จๅบŠ็š„ใซ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡ๅ€™ใจใ™ใ‚‹็—…ๅž‹๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰ใจใ€ไป–ใฎ็ณป็ตฑ้šœๅฎณใฎ็—‡ๅ€™ใ‚’ไผดใ†็—…ๅž‹๏ผˆ่ค‡ๅˆๅž‹๏ผ‰ใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚ - 1200037 - + + 18 + ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆๅคš็ณป็ตฑ้šœๅฎณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅŒใ˜ใใ€็ทฉๆ…ข้€ฒ่กŒๆ€งใฎ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใซใŠใ„ใฆใฏใ€่‡จๅบŠ็š„ใซ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡ๅ€™ใจใ™ใ‚‹็—…ๅž‹๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰ใจใ€ไป–ใฎ็ณป็ตฑ้šœๅฎณใฎ็—‡ๅ€™ใ‚’ไผดใ†็—…ๅž‹๏ผˆ่ค‡ๅˆๅž‹๏ผ‰ใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200037 + Spinocerebellar degeneration + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ + - - + + + SCD ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - 18 - 1200038 - - Sporadic Spinocerebellar Degeneration + + 18 + NANDO:1200038 + + Sporadic spinocerebellar degeneration + ใ“ใฏใคใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ๅญค็™บๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - + + + ๅญค็™บๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - 18 - 1200039 - - cortical cerebellar atrophy + + 18 + NANDO:1200039 + + Cortical cerebellar atrophy + ใฒใ—ใคใ›ใ„ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ็šฎ่ณชๆ€งๅฐ่„ณ่Ž็ธฎ็—‡ - - + + + CCA ็šฎ่ณชๆ€งๅฐ่„ณ่Ž็ธฎ็—‡ - - 18 - 1200040 - - autosomal dominant spinocerebellarย degeneration + + 18 + NANDO:1200040 + + Autosomal dominant hereditary spinocerebellar degeneration + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - + + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - 18 - 1200041 - - spinocerebellar ataxia type 3 + + 18 + NANDO:1200041 + + Spinocerebellar ataxia type 3 + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†3ใŒใŸ ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“ๅž‹ - - + + MJD + Machado-Joseph disease + SCA3 + ใƒžใƒใƒฃใƒ‰ใƒปใ‚ธใƒงใ‚ปใƒ•็—… ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“ๅž‹ - - 18 - 1200042 - - spinocerebellar ataxia type 6 + + 18 + NANDO:1200042 + + Spinocerebellar ataxia type 6 + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†6ใŒใŸ ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ–ๅž‹ - - - SCA3 - + + + SCA6 ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ–ๅž‹ - - 18 - 1200043 - + + 18 + NANDO:1200043 + Dentatorubropallidoluysian atrophy + ใ—ใ˜ใ‚‡ใ†ใ‹ใใ›ใใ‹ใใŸใ‚“ใใ†ใใ‚…ใ†ใ‚‹ใ„ใŸใ„ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ - - + + DRPLA + Dentatorubral-pallidoluysian atrophy ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ - - 18 - 1200044 - - spinocerebellar ataxia type 31 + + 18 + NANDO:1200044 + + Spinocerebellar ataxia type 31 + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†31ใŒใŸ ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ‘ๅž‹ - - + + + SCA31 ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ‘ๅž‹ - - 18 - 1200045 - - spinocerebellar ataxia type 1 + + 18 + NANDO:1200045 + + Spinocerebellar ataxia type 1 + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ‘ๅž‹ - - + + + SCA1 ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ‘ๅž‹ - - 18 - 1200046 - - spinocerebellar ataxia type 2 + + 18 + NANDO:1200046 + + Spinocerebellar ataxia type 2 + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†2ใŒใŸ ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ’ๅž‹ - - + + + SCA2 ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ’ๅž‹ - - 18 - 1200047 - - spinocerebellar ataxia type 7 + + 18 + NANDO:1200047 + + Spinocerebellar ataxia type 7 + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†7ใŒใŸ ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ—ๅž‹ - - + + + SCA7 ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ—ๅž‹ - - 18 - 1200048 - - spinocerebellar ataxia type 36 + + 18 + NANDO:1200048 + + Spinocerebellar ataxia type 36 + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†36ใŒใŸ ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ–ๅž‹ - - + + + SCA36 ่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ–ๅž‹ - - 18 - 1200049 - - autosomal dominant spinocerebellarย degeneration + + 18 + NANDO:1200049 + + Autosomal recessive hereditary spinocerebellar degeneration + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - + + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - 18 - 1200050 - + + 18 + NANDO:1200050 + Ataxia with isolated vitamin E deficiency + ใณใŸใฟใ‚“ใ„ใƒผใŸใ‚“ใฉใใ‘ใคใผใ†ใ›ใ„ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณEๅ˜็‹ฌๆฌ ไนๆ€งๅคฑ่ชฟ็—‡ - - + + + AVED ใƒ“ใ‚ฟใƒŸใƒณEๅ˜็‹ฌๆฌ ไนๆ€งๅคฑ่ชฟ็—‡ - - 18 - 1200051 - - ataxia-oculomotor apraxia Type 1 + + 18 + NANDO:1200051 + + Ataxia-oculomotor apraxia type 1 + ใ‚ใทใ‚‰ใŸใใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒ—ใƒฉใ‚ฟใ‚ญใ‚ทใƒณๆฌ ๆ็—‡ - - + + AOA1 + EAOH Early-onset ataxia with ocular motor apraxia and hypoalbuminemia - ็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใƒปไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚’ไผดใ†ๆ—ฉ็™บๅž‹ๅคฑ่ชฟ็—‡ + ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚’ไผดใ†ๆ—ฉ็™บๅž‹่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ + ็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ‚’ไผดใ†ๅคฑ่ชฟ็—‡ ใ‚ขใƒ—ใƒฉใ‚ฟใ‚ญใ‚ทใƒณๆฌ ๆ็—‡ - - 18 - 1200052 - - hereditary spastic paraplegia + + 18 + NANDO:1200052 + + Hereditary spastic paraplegia + ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ ็—™ๆ€งๅฏพ้บป็—บ + - - + + + HSP ็—™ๆ€งๅฏพ้บป็—บ - - 18 - 1200053 - - pure hereditary spastic paraplegia + + 18 + NANDO:1200053 + + Pure hereditary spastic paraplegia + ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ๏ผˆใ˜ใ‚…ใ‚“ใ™ใ„ใŒใŸ๏ผ‰ ็—™ๆ€งๅฏพ้บป็—บ๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰ - - + + ็—™ๆ€งๅฏพ้บป็—บ๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰ - - 18 - 1200054 - - complex hereditary spastic paraplegia + + 18 + NANDO:1200054 + + Complex hereditary spastic paraplegia + ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ๏ผˆใตใใ”ใ†ใŒใŸ๏ผ‰ ็—™ๆ€งๅฏพ้บป็—บ๏ผˆ่ค‡ๅˆๅž‹๏ผ‰ - - + + ็—™ๆ€งๅฏพ้บป็—บ๏ผˆ่ค‡ๅˆๅž‹๏ผ‰ - - 19 - ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€งๅˆ†่งฃ้…ต็ด ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅคง้‡ใฎ่„‚่ณชใ‚ใ‚‹ใ„ใฏใƒ ใ‚ณๅคš็ณ–ใชใฉใ‚’่“„็ฉใ—ใ€่‚่‡“ใƒป่„พ่‡“ใฎ่…ซๅคงใ€้ชจๅค‰ๅฝขใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใชใฉใ€็จฎใ€…ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจ60็จฎใฎ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ - 1200055 - Lysosomal Storage Disease + + 19 + ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€งๅˆ†่งฃ้…ต็ด ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅคง้‡ใฎ่„‚่ณชใ‚ใ‚‹ใ„ใฏใƒ ใ‚ณๅคš็ณ–ใชใฉใ‚’่“„็ฉใ—ใ€่‚่‡“ใƒป่„พ่‡“ใฎ่…ซๅคงใ€้ชจๅค‰ๅฝขใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใชใฉใ€็จฎใ€…ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจ60็จฎใฎ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:1200055 + Lysosomal storage disease + ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ† ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—… + - - + + ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—… - - 19 - 1200056 - + + 19 + NANDO:1200056 + Gaucher disease - Gaucher็—… + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ† + ใ‚ดใƒผใ‚ทใ‚ง็—… + - - + + + Gaucher็—… - Gaucher็—… + ใ‚ดใƒผใ‚ทใ‚ง็—… - - 19 - 1200057 - + + 19 + NANDO:1200057 + Gaucher disease type 1 - Gaucher็—…๏ผ‘ๅž‹ + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†1ใŒใŸ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹ + - - + + + GD type 1 + Gaucher็—…1ๅž‹ - Gaucher็—…๏ผ‘ๅž‹ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹ - - 19 - 1200058 - + + 19 + NANDO:1200058 + Gaucher disease type 2 - Gaucher็—…๏ผ’ๅž‹ + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†2ใŒใŸ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹ + - - + + + Gaucher็—…2ๅž‹ - Gaucher็—…๏ผ’ๅž‹ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹ - - 19 - 1200059 - + + 19 + NANDO:1200059 + Gaucher disease type 3 - Gaucher็—…๏ผ“ๅž‹ + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†3ใŒใŸ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹ + - - + + + Gaucher็—…3ๅž‹ - Gaucher็—…๏ผ“ๅž‹ - - - 19 - 1200060 - - Niemann-Pick disease Type A, B - Niemann-Pick็—…Aใ€Bๅž‹ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹ + + + 19 + NANDO:1200060 + + Niemann-Pick disease types A and B + ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใ€ใณใƒผใŒใŸ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aใ€Bๅž‹ - - - Niemann-Pick็—…Aใ€Bๅž‹ - - - 19 - 1200061 - + + + NPD type A and B + Niemann-Pick็—…Aๅž‹ใ€Bๅž‹ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aใ€Bๅž‹ + + + 19 + NANDO:1200061 + Niemann-Pick disease type A - Niemann-Pick็—…Aๅž‹ + ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใŒใŸ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹ + - - - Niemann-Pick disease type A/B + + + Niemann-Pick็—…Aๅž‹ - Niemann-Pick็—…Aๅž‹ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹ - - 19 - 1200062 - + + 19 + NANDO:1200062 + Niemann-Pick disease type B - Niemann-Pick็—…Bๅž‹ + ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใณใƒผใŒใŸ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹ + - - - Niemann-Pick disease type A/B + + + Niemann-Pick็—…Bๅž‹ - Niemann-Pick็—…Bๅž‹ - - - 19 - 1200063 - - Niemann-Pick disease Type C - Niemann-Pick็—…Cๅž‹ - + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹ + + + 19 + NANDO:1200063 + + Niemann-Pick disease type C + ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + - - - + + + NP-C + Niemann-Pick็—…Cๅž‹ - Niemann-Pick็—…Cๅž‹ - - - 19 - 1200064 - - Niemann-Pick็—…Cๅž‹๏ผˆไนณๅ…ๅž‹๏ผ‰ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + + + 19 + NANDO:1200064 + + Infantile-onset Niemann-Pick disease type C + ใซใ‚…ใ†ใ˜ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ + ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + - - - - - 19 - 1200065 - - Niemann-Pick็—…Cๅž‹๏ผˆๆˆไบบๅž‹๏ผ‰ + + + Infantile-onset NPC + Niemann-Pick็—…Cๅž‹๏ผˆไนณๅ…ๅž‹๏ผ‰ + ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + + + 19 + NANDO:1200065 + + Adult-onset Niemann-Pick disease type C + ใ›ใ„ใ˜ใ‚“ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ + ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + - - - - - 19 - 1200066 - - GM1 Gangliosidosis + + + Niemann-Pick็—…Cๅž‹๏ผˆๆˆไบบๅž‹๏ผ‰ + + ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + + + 19 + NANDO:1200066 + + GM1 gangliosidosis GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + + - - + + + Beta-galactosidase-1 deficiency GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200067 - - GM1 gangliosidosis type 1 - GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ + + 19 + NANDO:1200067 + + Infantile GM1 gangliosidosis + ใซใ‚…ใ†ใ˜ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + - - + + + Type 1 GM1 gangliosidosis - GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200068 - - GM1 gangliosidosis type 2 - GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ + ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200068 + + Juvenile GM1 gangliosidosis + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + ่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + - - + + + Type 2 GM1 gangliosidosis - GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ - - - 19 - 1200069 - - GM1 gangliosidosis type 3 - GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰ + ่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200069 + + Adult GM1 gangliosidosis + ใ›ใ„ใ˜ใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + - - + + + Type 3 GM1 gangliosidosis - GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰ - - - 19 - 1200070 - - GM2 Gangliosidosis - GM2ใ‚ฌใƒณใ‚ฐใƒชใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200070 + + GM2 gangliosidosis + GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + - - + + - GM2ใ‚ฌใƒณใ‚ฐใƒชใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200071 - + + 19 + NANDO:1200071 + + Tay-Sachs disease Tay-Sachs็—… - Tayโ€“Sachs disease + ใฆใ„ใ•ใฃใใ™ใณใ‚‡ใ† - - + + TSD + ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—… Tay-Sachs็—… - - 19 - 1200072 - + + 19 + NANDO:1200072 + Sandhoff disease - Sandhoff็—… + ใ•ใ‚“ใฉใปใตใณใ‚‡ใ† + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—… + + - - + + + SD - Sandhoff็—… - - - 19 - 1200073 - - AB variant - ABๅž‹ + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—… + + + 19 + NANDO:1200073 + + ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + GM2 gangliosidosis AB variant + ใˆใƒผใณใƒผใŒใŸใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + - - - GM2-gangliosidosis,ย AB variant + + + GM2-gangliosidosis, AB variant - ABๅž‹ + ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200074 - + + 19 + NANDO:1200074 + Krabbe disease - Krabbe็—… + ใใ‚‰ใฃในใณใ‚‡ใ† + ใ‚ฏใƒฉใƒƒใƒ™็—… + - - + + + Krabbe็—… - Krabbe็—… + ใ‚ฏใƒฉใƒƒใƒ™็—… - - 19 - 1200075 - + + 19 + NANDO:1200075 + Infantile Krabbe disease - Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰ + ใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ† + ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + - - + + + Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰ - Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200076 - - Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ - Late-infantile/juvenile Krabbe disease + ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + 19 + NANDO:1200076 + + Juvenile Krabbe disease + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ† + ่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + - - - Krabbe disease, late-onset - - Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ - - - 19 - 1200077 - + + + Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ + ่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + 19 + NANDO:1200077 + Adult Krabbe disease - Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰ + ใ›ใ„ใ˜ใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ† + ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + - - + + + Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰ - Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰ + ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… - - 19 - 1200078 - + + 19 + NANDO:1200078 + Metachromatic leukodystrophy + ใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + - - - + + + MLD ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 19 - 1200079 - - Metachromatic leukodystrophy, late infantile form - ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅพŒๆœŸไนณๅ…ๅž‹๏ผ‰ + + 19 + NANDO:1200079 + + Late infantile metachromatic leukodystrophy + ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - - - ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅพŒๆœŸไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200080 - - Metachromatic leukodystrophy, juvenile form - ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ + + + ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 19 + NANDO:1200080 + + Juvenile ๏ฝetachromatic leukodystrophy + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - + + - ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ - - - 19 - 1200081 - - Metachromatic leukodystrophy, adult form - ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅž‹๏ผ‰ + ่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 19 + NANDO:1200081 + + Adult metachromatic leukodystrophy + ใ›ใ„ใ˜ใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - - - ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅž‹๏ผ‰ - - - 19 - 1200082 - + + + ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 19 + NANDO:1200082 + Saposin B deficiency + ใ•ใฝใ—ใ‚“ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡ + - - + + ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡ - - 19 - 1200083 - + + 19 + NANDO:1200083 + Multiple sulfatase deficiency + ใพใ‚‹ใกใทใ‚‹ใ•ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - - + + + ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - - 19 - 1200084 - - neonatal multipleย sulfatase deficiency - ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡(ๆ–ฐ็”Ÿๅ…ๅž‹) + + 19 + NANDO:1200084 + + Neonatal multiple sulfatase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + - - - ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡(ๆ–ฐ็”Ÿๅ…ๅž‹) - - - 19 - 1200085 - + + + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + + 19 + NANDO:1200085 + Late-infantile multiple sulfatase deficiency - ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผˆไนณๅนผๅ…ๅž‹๏ผ‰ + ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + - - - ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผˆไนณๅนผๅ…ๅž‹๏ผ‰ - - - 19 - 1200086 - + + + + ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + + 19 + NANDO:1200086 + Farber disease - Farber็—… + ใตใใƒผใฐใƒผใณใ‚‡ใ† + ใƒ•ใ‚กใƒผใƒใƒผ็—… + - - + + + FD + Farber's lipogranulomatosis + Farber็—… - Farber็—… - - - 19 - 1200087 - - Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰ - type 1 FD + ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 19 + NANDO:1200087 + + Type 1 Farber disease + ใ“ใฆใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + - - - Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰ - - - 19 - 1200088 - - Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰ - type 2 FD + + + Classic FD + Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰ + Type 1 FD + + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 19 + NANDO:1200088 + + Type 2 Farber disease + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + - - - Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰ - - - 19 - 1200089 - - Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - type 3 FD + + + Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰ + Intermediate FD + Type 2 FD + + ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 19 + NANDO:1200089 + + Type 3 Farber disease + ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + - - - Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - - - 19 - 1200090 - - Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰ - type 4 FD + + + Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + Mild FD + Type 3 FD + + ่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 19 + NANDO:1200090 + + Type 4 Farber disease + ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + - - - Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰ - - - 19 - 1200091 - - Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰ - type 5 FD + + + Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰ + Neonatal-visceral FD + Type 4 FD + + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 19 + NANDO:1200091 + + Type 5 Farber disease + ใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + - - - Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰ - - - 19 - 1200092 - - Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰ - type 6 FD + + + Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰ + Neurologic FD + Neurological Progressive variant + Type 5 FD + + ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 19 + NANDO:1200092 + + Type 6 Farber disease + ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†ใŒใฃใบใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + - - - Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰ - - - 19 - 1200093 - - Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰ - type 7 FD + + + Combined Farber and Sandhoff Disease variant + Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰ + Type 6 FD + + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 19 + NANDO:1200093 + + Type 7 Farber disease + ใตใใƒผใฐใƒผใณใ‚‡ใ†๏ผˆใทใ‚ใ•ใฝใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸ๏ผ‰ + ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰ + - - - Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰ - - - 19 - 1200094 - + + + Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰ + Prosaposin Deficiency + Type 7 FD + ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰ + + + 19 + NANDO:1200094 + Hurler syndrome Hurler็—‡ๅ€™็พค + ใฏใƒผใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - - - Mucopolysaccharidosis type 1 - ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ - + + + MPS IH + Mucopolysaccharidosis type IH + ใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค + ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆHurler็—‡ๅ€™็พค๏ผ‰ Hurler็—‡ๅ€™็พค - - 19 - 1200095 - + + 19 + NANDO:1200095 + Scheie syndrome Scheie็—‡ๅ€™็พค + ใ—ใ‚ƒใ„ใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - - - Mucopolysaccharidosis type 1 - ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ - - + + + MPS IS + Mucopolysaccharidosis type IS + ใ‚ทใ‚งใ‚คใ‚จ็—‡ๅ€™็พค + ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆScheie็—‡ๅ€™็พค๏ผ‰ Scheie็—‡ๅ€™็พค - - 19 - 1200096 - + + 19 + NANDO:1200096 + Hurler-Scheie syndrome Hurler๏ผScheie็—‡ๅ€™็พค + ใฏใƒผใ‚‰ใƒผ/ใ—ใ‚ƒใ„ใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - - - Mucopolysaccharidosis type 1 - ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ - + + + MPS IH/S + Mucopolysaccharidosis type IH/S + ใƒใƒผใƒฉใƒผ๏ผใ‚ทใ‚งใ‚คใ‚จ็—‡ๅ€™็พค + ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆHurler๏ผScheie็—‡ๅ€™็พค๏ผ‰ Hurler๏ผScheie็—‡ๅ€™็พค - - 19 - 1200097 - + + 19 + NANDO:1200097 + Hunter syndrome Hunter็—‡ๅ€™็พค + ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - - + + + MPS II + Mucopolysaccharidosis type II + ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค + ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ Hunter็—‡ๅ€™็พค - - 19 - 1200098 - + + 19 + NANDO:1200098 + Hunter syndrome type A - Hunter็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ - + ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰ + ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ - - - Mucopolysaccharidosis type 2 - ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ - + + + MPS IIA + Mucopolysaccharidosis type II, severe form + Mucopolysaccharidosis type IIA + ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ ๏ผˆ้‡็—‡ๅž‹๏ผ‰ - Hunter็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ + ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ - - 19 - 1200099 - + + 19 + NANDO:1200099 + Hunter syndrome type B - Hunter็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - + ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰ + ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - - - Mucopolysaccharidosis type 2 - ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ - + + + MPS IIB + Mucopolysaccharidosis type II, attenuated form + Mucopolysaccharidosis type IIB + ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - Hunter็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - - - 19 - 1200100 - - Sanfilippo syndrome - Sanfilippo็—‡ๅ€™็พค + ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + + + 19 + NANDO:1200100 + + Sanfilippo disease + ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พค - - + + + MPS III + Mucopolysaccharidosis type III + ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ - Sanfilippo็—‡ๅ€™็พค - - - 19 - 1200101 - - Sanfilippo syndrome type A - Sanfilippo็—‡ๅ€™็พคAๅž‹ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พค + + + 19 + NANDO:1200101 + + Sanfilippo disease type A + ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใˆใƒผใŒใŸ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคAๅž‹ - - - Mucopolysaccharidosis type 3 - ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + MPS IIIA + Mucopolysaccharidosis type IIIA + ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Aๅž‹ - - Sanfilippo็—‡ๅ€™็พคAๅž‹ - - - 19 - 1200102 - - Sanfilippo syndrome type B - Sanfilippo็—‡ๅ€™็พคBๅž‹ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคAๅž‹ + + + 19 + NANDO:1200102 + + Sanfilippo disease type B + ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใณใƒผใŒใŸ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคBๅž‹ - - - Mucopolysaccharidosis type 3 - ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + MPS IIIB + Mucopolysaccharidosis type IIIB + ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Bๅž‹ - - Sanfilippo็—‡ๅ€™็พคBๅž‹ - - - 19 - 1200103 - - Sanfilippo syndrome type C - Sanfilippo็—‡ๅ€™็พคCๅž‹ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคBๅž‹ + + + 19 + NANDO:1200103 + + Sanfilippo disease type C + ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ—ใƒผใŒใŸ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคCๅž‹ - - - Mucopolysaccharidosis type 3 - ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + MPS IIIC + Mucopolysaccharidosis type IIIC + ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Cๅž‹ - - Sanfilippo็—‡ๅ€™็พคCๅž‹ - - - 19 - 1200104 - - Sanfilippo syndrome type D - Sanfilippo็—‡ๅ€™็พคDๅž‹ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคCๅž‹ + + + 19 + NANDO:1200104 + + Sanfilippo disease type D + ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใงใƒใƒผใŒใŸ + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคDๅž‹ - - - Mucopolysaccharidosis type 3 - ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + MPS IIID + Mucopolysaccharidosis type IIID + ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Dๅž‹ - - Sanfilippo็—‡ๅ€™็พคDๅž‹ - - - 19 - 1200105 - - Morquio disease - Morquio็—‡ๅ€™็พค + ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคDๅž‹ + + + 19 + NANDO:1200105 + + Morquio syndrome + ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พค - - + + + MPS IV + Morquio็—‡ๅ€™็พค + Mucopolysaccharidosis type IV + ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ - Morquio็—‡ๅ€™็พค - - - 19 - 1200106 - - Morquio disease type A - Morquio็—‡ๅ€™็พคAๅž‹ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พค + + + 19 + NANDO:1200106 + + Morquio syndrome type A + ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใˆใƒผใŒใŸ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹ - - - Mucopolysaccharidosis type 4 - ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + + + MPS IVA + Mucopolysaccharidosis type IVA + ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Aๅž‹ - - Morquio็—‡ๅ€™็พคAๅž‹ - - - 19 - 1200107 - - Morquio disease type B - Morquio็—‡ๅ€™็พคBๅž‹ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹ + + + 19 + NANDO:1200107 + + Morquio syndrome type B + ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใณใƒผใŒใŸ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹ - - - Mucopolysaccharidosis type 4 - ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + + + MPS IVB + Mucopolysaccharidosis type IVB + ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Bๅž‹ - - Morquio็—‡ๅ€™็พคBๅž‹ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹ - - 19 - 1200108 - + + 19 + NANDO:1200108 + Maroteaux-Lamy syndrome - Maroteaux-Lamy็—‡ๅ€™็พค + ใพใ‚ใจใƒผใƒปใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค - - + + + MPSVI + Maroteaux-Lamy disease + Maroteaux-Lamy็—‡ๅ€™็พค + Mucopolysaccharidosis type VI + ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ - Maroteaux-Lamy็—‡ๅ€™็พค - - - 19 - 1200109 - - Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ - Mucopolysaccharidosis type 6, rapidly progressing + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค + + + 19 + NANDO:1200109 + + Maroteaux Lamy syndrome, rapidly progressing form + ใพใ‚ใจใƒผใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰ + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ - - - Mucopolysaccharidosis type 6 - ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + MPS VI + Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ + Mucopolysaccharidosis type VI + ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ ๏ผˆ้‡็—‡ๅž‹๏ผ‰ - - Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ - - - 19 - 1200110 - - Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - Mucopolysaccharidosis type 6, slowly progressing + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰ + + + 19 + NANDO:1200110 + + Maroteaux Lamy syndrome, slowly progressing form + ใพใ‚ใจใƒผใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰ + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - - - Mucopolysaccharidosis type 6 - ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + MPS VI + Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + Mucopolysaccharidosis type VI + ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - - Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - - 19 - 1200111 - + + 19 + NANDO:1200111 + Sly syndrome Sly็—… + ใ™ใ‚‰ใ„ใณใ‚‡ใ† - - + + + MPS VII + Sly disease + mucopolysaccharidosis type VII + ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ Sly็—… - - 19 - 1200112 - + + 19 + NANDO:1200112 + + Sly syndrome, neonatal form Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰ + ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใ—ใ‚“ใ›ใ„ใ˜ใŒใŸ๏ผ‰ - - - Mucopolysaccharidosis type 7 - ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + neonatal form of MPS-VII + ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰ + Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰ - - 19 - 1200113 - + + 19 + NANDO:1200113 + + Sly syndrome, intermediate form Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰ - + ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใกใ‚…ใ†ใ‹ใ‚“ใŒใŸ๏ผ‰ - - - Mucopolysaccharidosis type 7 - ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ - - - - 19 - 1200114 - + + + intermediate form of MPS 7 + ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆไธญ้–“ๅž‹๏ผ‰ + Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰ + + + 19 + NANDO:1200114 + + Sly syndrome, mild form Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - + ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰ - - - Mucopolysaccharidosis type 7 - ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ - - - - 19 - 1200115 - + + + mild form of MPS VII + ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + + + 19 + NANDO:1200115 + Hyaluronidase deficiency + ใฒใ‚ใ‚‹ใ‚ใซใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - - - Mucopolysaccharidosis type 9 + + + Mucopolysaccharidosis Type IX ใƒ ใ‚ณๅคš็ณ–็—‡IXๅž‹ ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - - 19 - 1200116 - + + 19 + NANDO:1200116 + Sialidosis + ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น - + - - - + + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200117 - + + 19 + NANDO:1200117 + Sialidosis type 1 - ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ… ๅž‹๏ผ‰ - + ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™1ใŒใŸ + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹ + - - - + + - ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ… ๅž‹๏ผ‰ + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹ - - 19 - 1200118 - + + 19 + NANDO:1200118 + Sialidosis type 2 - ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ…กๅž‹๏ผ‰ - + ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™2ใŒใŸ + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ + + + - - + + - ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ…กๅž‹๏ผ‰ + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ - - 19 - 1200119 - + + 19 + NANDO:1200119 + Galactosialidosis + ใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + - - + + ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200120 - - Early-infantile galactosialidosis - ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹๏ผ‰ + + 19 + NANDO:1200120 + + Galactosialidosis, early infantile form + ใ—ใ‚“ใ›ใ„ใ˜ใŠใ‚ˆใณใใ†ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ + ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + - - - ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200121 - - Late infantile galactosialidosis - ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ™ฉๆœŸไนณๅ…ๅž‹๏ผ‰ + + + Sialidosis type II + + ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200121 + + Galactosialidosis, late infantile form + ใฐใ‚“ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ + ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + - - - ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ™ฉๆœŸไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200122 - - Juvenile/adult galactosialidosis - ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅŠใณๆˆไบบๅž‹๏ผ‰ + + + ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200122 + + Galactosialidosis, juvenile/adult form + ใ˜ใ‚ƒใใญใ‚“ใŠใ‚ˆใณใ›ใ„ใ˜ใ‚“ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ + ่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + - - - ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅŠใณๆˆไบบๅž‹๏ผ‰ - - - 19 - 1200123 - - Mucolipidosis Type II,III + + + + ่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200123 + + Mucolipidosis II, III + ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ,3ใŒใŸ ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹ - - + + ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹ - - 19 - 1200124 - - Mucolipidosis Type II + + 19 + NANDO:1200124 + + Mucolipidosis II + ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ + - - + + + I-cell disease + I-cell็—… + ML II ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ - - 19 - 1200125 - - Mucolipidosis Type III + + 19 + NANDO:1200125 + + Mucolipidosis III + ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™3ใŒใŸ ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹ - + - - + + + ML III ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹ - - 19 - 1200126 - + + 19 + NANDO:1200126 + Alpha-mannosidosis ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ - - + + + ฮฑ-Mannosidosis ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200127 - + + 19 + NANDO:1200127 + Alpha-mannosidosis, infantile form - ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ + ใซใ‚…ใ†ใ˜ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ + ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + - - + + + alpha-mannosidosis, type I + ไนณๅ…ๅž‹๏ผˆtype I๏ผ‰ - ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ + + ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200128 - + + 19 + NANDO:1200128 + Alpha-mannosidosis, adult form - ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๆˆไบบๅž‹๏ผ‰ + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ˜ใ‚“ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ + ่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + - - + + + ่‹ฅๅนดๆˆไบบๅž‹๏ผˆtype II๏ผ‰ - ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๆˆไบบๅž‹๏ผ‰ + ่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200129 - + + 19 + NANDO:1200129 + Beta-mannosidosis ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ในใƒผใŸใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ + - - + + + ฮฒ-mannosidosis ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200130 - + + 19 + NANDO:1200130 + Fucosidosis + ใตใ“ใ—ใฉใƒผใ—ใ™ ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + - - + + ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 19 - 1200131 - - Fucosidosis type 1 - ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ + + 19 + NANDO:1200131 + + Fucosidosis, infantile form + ใซใ‚…ใ†ใ˜ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™ + ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + - - - ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200132 - - Fucosidosis type 2 - ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + + + Fucosidosis type I + + ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200132 + + Fucosidosis, milder form + ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™ + ่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + - - - ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ - - - 19 - 1200133 - + + + Fucosidosis Type II + ่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 19 + NANDO:1200133 + Aspartylglucosaminuria + ใ‚ใ™ใฑใ‚‹ใกใ‚‹ใใ‚‹ใ“ใ•ใฟใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡ + - - + + ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡ - - 19 - 1200134 - + + 19 + NANDO:1200134 + Schindler disease - Schindler็—… + ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ† + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—… - - + + + Alpha-N-acetylgalactosaminidase deficiency + NAGA deficiency - Schindler็—… - - - 19 - 1200135 - - Schindler disease type 1 - Schindler็—…Iๅž‹ + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—… + + + 19 + NANDO:1200135 + + Schindler disease type I + ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†1ใŒใŸ + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…Iๅž‹ - - + + + Alpha-N-acetylgalactosaminidase deficiency type 1 + NAGA deficiency type 1 + Schindler็—…Iๅž‹ - Schindler็—…Iๅž‹ + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…Iๅž‹ - - 19 - 1200136 - + + 19 + NANDO:1200136 + Schindler disease type 2 - Schindler็—…IIๅž‹ + ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†2ใŒใŸ + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIๅž‹ - - + + + Alpha-N-acetylgalactosaminidase deficiency type 2 + Kanzaki disease + NAGA deficiency type 2 + Schindler็—…IIๅž‹ ็ฅžๅดŽ็—… - Schindler็—…IIๅž‹ + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIๅž‹ - - 19 - 1200137 - + + 19 + NANDO:1200137 + Schindler disease type 3 - Schindler็—…IIIๅž‹ - + ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†3ใŒใŸ + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIIๅž‹ - - - + + + Alpha-N-acetylgalactosaminidase deficiency type 3 + NAGA deficiency type 3 + Schindler็—…IIIๅž‹ - Schindler็—…IIIๅž‹ + ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIIๅž‹ - - 19 - 1200138 - + + 19 + NANDO:1200138 + Pompe disease - Pompe็—… + ใฝใ‚“ใบใณใ‚‡ใ† + ใƒใƒณใบ็—… - - + + + Pompe็—… - Pompe็—… - - - 19 - 1200139 - - Classic infantile-onset Pompe disease - Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰ + ใƒใƒณใบ็—… + + + 19 + NANDO:1200139 + + Classic infantile Pompe disease + ใซใ‚…ใ†ใ˜ใŒใŸใฝใ‚“ใบใณใ‚‡ใ† + ไนณๅ…ๅž‹ใƒใƒณใƒš็—… + - - - Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200140 - - Non-classic infantile-onset Pompe disease - Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰ + + + Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰ + + ไนณๅ…ๅž‹ใƒใƒณใƒš็—… + + + 19 + NANDO:1200140 + + Childhood-onset Pompe disease + ใ—ใ‚‡ใ†ใซใŒใŸใฝใ‚“ใบใณใ‚‡ใ† + ๅฐๅ…ๅž‹ใƒใƒณใƒš็—… + - - - Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰ - - - 19 - 1200141 - - Late-onset Pompe disease - Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰ + + + Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰ + ๅฐๅ…ๅž‹ใƒใƒณใƒš็—… + + + 19 + NANDO:1200141 + + Adult-onset Pompe disease + ใ›ใ„ใ˜ใ‚“ใŒใŸใฝใ‚“ใบใณใ‚‡ใ† + ๆˆไบบๅž‹ใƒใƒณใƒš็—… + - - - Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰ - - - 19 - 1200142 - - Lysosomal acid lipase deficiency + + + Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰ + ๆˆไบบๅž‹ใƒใƒณใƒš็—… + + + 19 + NANDO:1200142 + + Acid lipase deficiency + ใ•ใ‚“ใ›ใ„ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ - + - - - + + + Cholesteryl ester storage disease and Wolman disease + Wolman disease and cholesterol ester storage disease ้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ - - 19 - 1200143 - + + 19 + NANDO:1200143 + Wolman disease + ใ†ใ‰ใ‚‹ใพใ‚“ใณใ‚‡ใ† ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—… - + - - - + + + Wolman็—… ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—… - - 19 - 1200144 - + + 19 + NANDO:1200144 + Cholesterol ester storage disease - ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„่†ฟ็—‡ + ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใˆใ™ใฆใ‚‹ใกใใ›ใใ—ใ‚‡ใ† + ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡ + - - + + + CESD - ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„่†ฟ็—‡ + ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡ - - 19 - 1200145 - + + 19 + NANDO:1200145 + Danon disease - Danon็—… + ใ ใฎใ‚“ใณใ‚‡ใ† + ใƒ€ใƒŽใƒณ็—… + - - + + + Danon็—… - Danon็—… + ใƒ€ใƒŽใƒณ็—… - - 19 - 1200146 - + + 19 + NANDO:1200146 + Free sialic acid storage disease + ใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ† ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + - - + + ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ - - 19 - 1200147 - - Free sialic acid storage disease, infantile form - ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไนณๅ…ๅž‹๏ผ‰ + + 19 + NANDO:1200147 + + Infantile free sialic acid storage disease + ใซใ‚…ใ†ใ˜ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ† + ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + - - + + ISSD - infantileย sialicย acid storage disease ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ้‡็—‡ๅž‹๏ผ‰ - ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไนณๅ…ๅž‹๏ผ‰ - - - 19 - 1200148 - - intermediate severe Salla disease - ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰ + ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + + + 19 + NANDO:1200148 + + Intermediate severe Salla disease + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ† + ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + - - + + + ้‡็—‡Salla็—… - ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰ + ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ - - 19 - 1200149 - - Salla disaese + + 19 + NANDO:1200149 + + Salla disease + ใ•ใ‚‰ใณใ‚‡ใ† ใ‚ตใƒฉ็—… + + + - - + + + SD + Salla็—… ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ + ใ‚ตใƒฉ็—… - - 19 - 1200150 - - Neuronalย Ceroid Lipofuscinosis + + 19 + NANDO:1200150 + + Neuronal ceroid-lipofuscinosis + ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใฎใƒผใ—ใ™ ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น - - + + + NCL ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น - - 19 - 1200151 - + + 19 + NANDO:1200151 + Congenital neuronal ceroid lipofuscinosis - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๅ…ˆๅคฉๅž‹๏ผ‰ + ใ›ใ‚“ใฆใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + - - + + - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๅ…ˆๅคฉๅž‹๏ผ‰ + ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ - - 19 - 1200152 - + + 19 + NANDO:1200152 + Infantile neuronal ceroid lipofuscinosis - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ + ใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + - - + + + CLN1 + INCL + Infantile Batten disease - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰ + ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ - - 19 - 1200153 - + + 19 + NANDO:1200153 + Late infantile neuronal ceroid lipofuscinosis - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้…็™บไนณๅ…ๅž‹๏ผ‰ + ใกใฏใคใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + - - + + + CLN2 + Jansky-Bielschowsky disease + LINCL - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้…็™บไนณๅ…ๅž‹๏ผ‰ + ้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ - - 19 - 1200154 - + + 19 + NANDO:1200154 + Juvenile neuronal ceroid lipofuscinosis - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ - + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + - - - + + + Batten disease + Batten็—… + JNCL + NCL3 + Spielmeyer-Vogt-Sjogren disease - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰ + ่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ - - 19 - 1200155 - + + 19 + NANDO:1200155 + Adult neuronal ceroid lipofuscinosis - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰ + ใ›ใ„ใ˜ใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + - - + + + ANCL + CLN4 + Kufs disease + Kufs' disease - ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰ - - - 19 - 1200156 - - Atypical neuronal ceroid-lipofuscinosis + ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + 19 + NANDO:1200156 + + Atypical neuronal-ceroid lipofuscinosis + ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใฎใƒผใ—ใ™๏ผˆใฒใฆใ„ใ‘ใ„ใŒใŸ๏ผ‰ ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰ - - + + + ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰ - - 19 - 1200157 - + + 19 + NANDO:1200157 + Fabry disease - Fabry็—… + ใตใใถใ‚Šใƒผใณใ‚‡ใ† + ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + - - + + + Fabry็—… - Fabry็—… - - - 19 - 1200158 - - Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰ - type 1 Fabry disease + ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + + 19 + NANDO:1200158 + + Classical Fabry disease + ใ“ใฆใ‚“ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ† + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + - - + + + Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰ + Type 1 Fabry disease classic Fabry disease - Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰ - - - 19 - 1200159 - - Fabry็—…๏ผˆไบœๅž‹๏ผ‰ - type 2 Fabry disease + + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + + 19 + NANDO:1200159 + + Variant Fabry disease + ใ‚ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ† + ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + - - - late onset Fabry disease - Fabry็—…๏ผˆไบœๅž‹๏ผ‰ - - - 19 - 1200160 - - Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰ - heterozygous Fabry disease + + + Fabry็—…๏ผˆไบœๅž‹๏ผ‰ + late-onset Fabry disease + + ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + + 19 + NANDO:1200160 + + Heterozygous Fabry disease + ใตใใถใ‚Šใƒผใณใ‚‡ใ†ใ‘ใ‚“ใ›ใ„ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„ + ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ + - - - Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰ - - - 19 - 1200161 - + + + Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰ + ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ + + + 19 + NANDO:1200161 + Cystinosis + ใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† ใ‚ทใ‚นใƒใƒณ็—‡ + - - + + ใ‚ทใ‚นใƒใƒณ็—‡ - - 19 - 1200162 - - Nephropathic infantile cystinosis - ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ่…Žๅž‹๏ผ‰ + + 19 + NANDO:1200162 + + Nephropathic cystinosis + ใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† + ่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + - - + + + Infantile nephropathic cystinosis - ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ่…Žๅž‹๏ผ‰ - - - 19 - 1200163 - - Juvenile nephropathic cystinosis - ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰ + + ่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + 19 + NANDO:1200163 + + Intermediate cystinosis + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† + ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + - - + + + Juvenile cystinosis + Juvenile nephropathic cystinosis - ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰ - - - 19 - 1200164 - - Ocular cystinosis - ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ้ž่…Žๅž‹๏ผ‰ + ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + 19 + NANDO:1200164 + + Non-nephropathic cystinosis + ใฒใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† + ้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + - - + + + ocular cystinosis ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ็œผๅž‹๏ผ‰ - ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ้ž่…Žๅž‹๏ผ‰ + ้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ - - 20 - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅ‰ฏ่…Žไธๅ…จใจไธญๆžข็ฅž็ตŒ็ณปใฎ่„ฑ้ซ„ใ‚’ไธปไฝ“ใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งๅฝขๅผใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ๅคง่„ณๅž‹ใ€ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ใ€ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผˆadrenomyeloneuropathy๏ผšAMN๏ผ‰ใ€ๆˆไบบๅคง่„ณๅž‹ใ€ๅฐ่„ณใƒป่„ณๅนนๅž‹ใ€ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ใ€ๅฅณๆ€ง็™บ็—‡่€…ใชใฉใฎ่‡จๅบŠ็—…ๅž‹ใŒๅญ˜ๅœจใ—ใ€ๅ„ใ€…ใฎ่‡จๅบŠ็ตŒ้Žใ€ไบˆๅพŒใฏ็•ฐใชใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใ ใ‘ใงใชใใ€ใปใจใ‚“ใฉใฎ็ต„็น”ใ‚„่ก€ๆผฟใ€่ตค่ก€็ƒ่†œใ€็™ฝ่ก€็ƒใชใฉใซใŠใ„ใฆๆฅต้•ท้Ž–่„‚่‚ช้…ธใฎๅข—ๅŠ ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200165 - + + 20 + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅ‰ฏ่…Žไธๅ…จใจไธญๆžข็ฅž็ตŒ็ณปใฎ่„ฑ้ซ„ใ‚’ไธปไฝ“ใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งๅฝขๅผใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ๅคง่„ณๅž‹ใ€ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ใ€ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผˆadrenomyeloneuropathy๏ผšAMN๏ผ‰ใ€ๆˆไบบๅคง่„ณๅž‹ใ€ๅฐ่„ณใƒป่„ณๅนนๅž‹ใ€ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ใ€ๅฅณๆ€ง็™บ็—‡่€…ใชใฉใฎ่‡จๅบŠ็—…ๅž‹ใŒๅญ˜ๅœจใ—ใ€ๅ„ใ€…ใฎ่‡จๅบŠ็ตŒ้Žใ€ไบˆๅพŒใฏ็•ฐใชใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใ ใ‘ใงใชใใ€ใปใจใ‚“ใฉใฎ็ต„็น”ใ‚„่ก€ๆผฟใ€่ตค่ก€็ƒ่†œใ€็™ฝ่ก€็ƒใชใฉใซใŠใ„ใฆๆฅต้•ท้Ž–่„‚่‚ช้…ธใฎๅข—ๅŠ ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200165 + Adrenoleukodystrophy + ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + - - + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 20 - 1200166 - - Childhood X-linked Adrenoleukodystrophy - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰ + + 20 + NANDO:1200166 + + Childhood cerebral adrenoleukodystrophy + ใ—ใ‚‡ใ†ใซใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + - - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰ - - - 20 - 1200167 - - Adolescent-onset X-linkedย Adrenoleukodystrophy - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰ + + CCALD + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰ + + ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 20 + NANDO:1200167 + + Adolescent cerebral adrenoleukodystrophy + ใ—ใ—ใ‚…ใ‚“ใใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰ - - - 20 - 1200168 - - adrenomyeloneuropathy - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผ‰ - + + AdolCALD + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰ + ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 20 + NANDO:1200168 + + Adrenomyeloneuropathy + ใตใใ˜ใ‚“ใ›ใใšใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ + ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ + - - AMN - + + AMN + Adrenoleukodystrophy + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผ‰ - - - 20 - 1200169 - - Adult-onset adrenoleukodystrophy - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰ + ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ + + + 20 + NANDO:1200169 + + Adult cerebral adrenoleukodystrophy + ใ›ใ„ใ˜ใ‚“ใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰ - - - 20 - 1200170 - + + ACALD + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰ + ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 20 + NANDO:1200170 + Atypical X-linked adult adrenoleukodystrophy - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰ + ใ—ใ‚‡ใ†ใฎใ†ใƒปใฎใ†ใ‹ใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰ - - - 20 - 1200171 - - Addison's Disease - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰ - + + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰ + ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 20 + NANDO:1200171 + + Addison-only adrenoleukodystrophy + ใ‚ใ˜ใใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - - - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰ - - - 20 - 1200172 - - female adrenoleukodystrophy + + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰ + + ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 20 + NANDO:1200172 + + Female adrenoleukodystrophy + ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใ˜ใ‚‡ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ—ใ‚ƒ๏ผ‰ ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰ + - + + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰ - - 21 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ€่‡จๅบŠ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ—ใฆใ„ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใซๅŠ ใˆใฆใ€ๆดปๆ€ง้…ธ็ด ็”ฃ็”Ÿใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใ€ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณใฎ่ฒฏ่”ตใ€ๆ„ŸๆŸ“้˜ฒๅพกใชใฉใซใ‚‚้–ขใ‚ใฃใฆใ„ใ‚‹ใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใฏใ“ใ‚Œใ‚‰ใฎ็”Ÿ็‰ฉๅญฆ็š„ๆฉŸ่ƒฝใŒๅค‰ๅŒ–ใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็พๅœจใฎใจใ“ใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซใŠใ‘ใ‚‹ๆฉŸ่ƒฝ็•ฐๅธธใฎไธปไฝ“ใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌ้šœๅฎณใซใ‚ˆใ‚‹็—…ๆ…‹ใŒๅŸบๆœฌใงใ‚ใ‚‹ใ€‚ - 1200173 - - Mitochondrial Diseases + + 21 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ€่‡จๅบŠ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ—ใฆใ„ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใซๅŠ ใˆใฆใ€ๆดปๆ€ง้…ธ็ด ็”ฃ็”Ÿใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใ€ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณใฎ่ฒฏ่”ตใ€ๆ„ŸๆŸ“้˜ฒๅพกใชใฉใซใ‚‚้–ขใ‚ใฃใฆใ„ใ‚‹ใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใฏใ“ใ‚Œใ‚‰ใฎ็”Ÿ็‰ฉๅญฆ็š„ๆฉŸ่ƒฝใŒๅค‰ๅŒ–ใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็พๅœจใฎใจใ“ใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซใŠใ‘ใ‚‹ๆฉŸ่ƒฝ็•ฐๅธธใฎไธปไฝ“ใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌ้šœๅฎณใซใ‚ˆใ‚‹็—…ๆ…‹ใŒๅŸบๆœฌใงใ‚ใ‚‹ใ€‚ + NANDO:1200173 + + Mitochondrial diseases + ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ† ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… - - + + + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… - - 21 - 1200174 - - chronic progressive external ophthalmoplegia + + 21 + NANDO:1200174 + + Chronic progressive external ophthalmoplegia + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใ›ใ„ใŒใ„ใŒใ‚“ใใ‚“ใพใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค - - + + CPEO + Kearns-Sayre syndrome + ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค - - 21 - 1200175 - - Leigh syndrome + + 21 + NANDO:1200175 + + Leigh's encephalomyelopathy + ใ‚Šใƒผใฎใ†ใ—ใ‚‡ใ† ใƒชใƒผ่„ณ็—‡ - - + + + Leigh encephalomyelopathy ใƒชใƒผ่„ณ็—‡ - - 21 - 1200176 - - MELAS + + 21 + NANDO:1200176 + + Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome + ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใฎใ†ใใ‚“ใ—ใ‚‡ใ†ใƒปใซใ‚…ใ†ใ•ใ‚“ใ‚ใ—ใฉใƒผใ—ใ™ใƒปใฎใ†ใใฃใกใ‚…ใ†ใ‚ˆใ†ใปใฃใ•ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค - - + + + MELAS + MELAS + MELAS syndrome ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค - - 21 - 1200177 - - MERRF - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็•ฐๅธธใ‚’ไผดใ†ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ + + 21 + NANDO:1200177 + + Myoclonus epilepsy associated with ragged-red fibers + ใ›ใใ—ใ‚‡ใใผใ‚ใ›ใ‚“ใ„ใƒปใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค + - - + + + MERRF + MERRF + Myoclonic epilepsy associated with ragged-red fibers - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็•ฐๅธธใ‚’ไผดใ†ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ + ่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค - - 21 - 1200178 - + + 21 + NANDO:1200178 + Leber hereditary optic neuropathy - ใƒฌใƒผใƒใƒผ็—… + ใ‚Œใƒผในใ‚‹ใ„ใงใ‚“ใ›ใ„ใ—ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ† + ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡ + + - - + + + LHON + ใƒฌใƒผใƒใƒผ็—… - ใƒฌใƒผใƒใƒผ็—… + ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡ - - 21 - 1200179 - + + 21 + NANDO:1200179 + + Mitochondrial diseases with proven biochemical abnormality + ใ›ใ„ใ‹ใŒใใฆใใ„ใ˜ใ‚‡ใ†ใŒใ‚ใใ‚‰ใ‹ใซใชใฃใŸใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ† ็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… - - - - - 21 - 1200180 - + + + ็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… + + + 21 + NANDO:1200180 + Mitochondrial complex I deficiency + ใตใใ”ใ†ใŸใ„1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡ - + - - - + + + + ่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡ - - 21 - 1200181 - + + 21 + NANDO:1200181 + Mitochondrial complex II deficiency - ่ค‡ๅˆไฝ“โ…กๆฌ ๆ็—‡ + ใตใใ”ใ†ใŸใ„2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ่ค‡ๅˆไฝ“IIๆฌ ๆ็—‡ - - + + - ่ค‡ๅˆไฝ“โ…กๆฌ ๆ็—‡ - - - 21 - 1200182 - + ่ค‡ๅˆไฝ“IIๆฌ ๆ็—‡ + + + 21 + NANDO:1200182 + + Hyperlacticacidemia with no identified etiology + ใ’ใ‚“ใ„ใ‚“ใตใ‚ใ„ใชใ“ใ†ใซใ‚…ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡ - - - - - 22 - ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡๏ผ‰ใฏใ€ๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€่„ณ่ก€็ฎกๆ’ฎๅฝฑๆคœๆŸปใงไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’10๏ฝž20๏ผ…ใซ่ชใ‚ใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš2.5ใงๆœ‰็—…็Ž‡ใฏๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏ10ไธ‡ไบบใซๅฏพใ—ใฆ๏ผ“๏ฝž10.5ไบบใจใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—๏ผ•๏ฝž10ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚ - 1200183 - + + + Hyperlacticacidaemia with no identified etiology + ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡ + + + 22 + ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡๏ผ‰ใฏใ€ๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€่„ณ่ก€็ฎกๆ’ฎๅฝฑๆคœๆŸปใงไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’10๏ฝž20๏ผ…ใซ่ชใ‚ใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš2.5ใงๆœ‰็—…็Ž‡ใฏๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏ10ไธ‡ไบบใซๅฏพใ—ใฆ๏ผ“๏ฝž10.5ไบบใจใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—๏ผ•๏ฝž10ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:1200183 + Moyamoya disease + ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ† ใ‚‚ใ‚„ใ‚‚ใ‚„็—… - + - - - + + + ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡ - ใ‚‚ใ‚„ใ‚‚ใ‚„็—… - - 22 - 1200184 - - bilateral moyamoya disease + + 22 + NANDO:1200184 + + Bilateral moyamoya disease + ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†๏ผˆใ‚Šใ‚‡ใ†ใŒใ‚ใŒใŸ๏ผ‰ ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰ - - + + + ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰ - - 22 - 1200185 - - unilateral moyamoya disease + + 22 + NANDO:1200185 + + Unilateral moyamoya disease + ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†๏ผˆใ‹ใŸใŒใ‚ใŒใŸ๏ผ‰ ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰ - - + + + ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰ - - 23 - ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ๆญฃๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใŒไฝ•ใ‚‰ใ‹ใฎ็†็”ฑใงไผๆ’ญๆ€งใ‚’ๆœ‰ใ™ใ‚‹็•ฐๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใซๅค‰ๅŒ–ใ—ใ€ไธปใซไธญๆžข็ฅž็ตŒๅ†…ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆ€ฅ้€Ÿใซ็ฅž็ตŒ็ดฐ่ƒžๅค‰ๆ€งใ‚’่ตทใ“ใ™ใพใ‚Œใช่‡ดๆญปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฎไปฃ่กจ็š„ใชใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…๏ผˆCreutzfeldt-Jakob disease๏ผšCJD๏ผ‰ใฏใ€๏ผ‘ๅนด้–“ใซ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎๅ‰ฒๅˆใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ’ใƒˆใฎใƒ—ใƒชใ‚ชใƒณ็—…ใฏ็—…ๅ› ใซใ‚ˆใ‚Šใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆๅญค็™บๆ€งCJD๏ผˆsporadic CJD๏ผšsCJD๏ผ‰๏ผ‰ใ€ใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹้บไผๆ€ง๏ผˆๅฎถๆ—ๆ€งCJDใ€ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…๏ผˆGerstman-Strรคussler-Scheinker๏ผšGSS๏ผ‰ใ€่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡๏ผˆfatal familial insomnia๏ผšFFI๏ผ‰๏ผ‰ใ€ไป–ใ‹ใ‚‰ใฎใƒ—ใƒชใ‚ชใƒณๆ„ŸๆŸ“ใซใ‚ˆใ‚‹็ฒๅพ—ๆ€ง๏ผˆenvironmentally acquired๏ผ‰๏ผˆใ‚ฏใƒผใƒซใƒผใ€ๅŒปๅŽŸๆ€งใ€ๅค‰็•ฐๅž‹๏ผˆvariant Creutzfeldt-Jakob disease๏ผšvCJD๏ผ‰๏ผ‰ใฎ๏ผ“็จฎ้กžใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ไบบ็ฃๅ…ฑ้€šๆ„ŸๆŸ“็—‡ใงใ‚ใ‚Šใ€ใƒ’ใƒˆไปฅๅค–ใงใฏใ€็‰›ใฎ็‰›ๆตท็ถฟ็Šถ่„ณ็—‡๏ผˆBSE๏ผ‰ใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200186 - + + 23 + ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ๆญฃๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใŒไฝ•ใ‚‰ใ‹ใฎ็†็”ฑใงไผๆ’ญๆ€งใ‚’ๆœ‰ใ™ใ‚‹็•ฐๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใซๅค‰ๅŒ–ใ—ใ€ไธปใซไธญๆžข็ฅž็ตŒๅ†…ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆ€ฅ้€Ÿใซ็ฅž็ตŒ็ดฐ่ƒžๅค‰ๆ€งใ‚’่ตทใ“ใ™ใพใ‚Œใช่‡ดๆญปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฎไปฃ่กจ็š„ใชใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…๏ผˆCreutzfeldt-Jakob disease๏ผšCJD๏ผ‰ใฏใ€๏ผ‘ๅนด้–“ใซ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎๅ‰ฒๅˆใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ’ใƒˆใฎใƒ—ใƒชใ‚ชใƒณ็—…ใฏ็—…ๅ› ใซใ‚ˆใ‚Šใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆๅญค็™บๆ€งCJD๏ผˆsporadic CJD๏ผšsCJD๏ผ‰๏ผ‰ใ€ใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹้บไผๆ€ง๏ผˆๅฎถๆ—ๆ€งCJDใ€ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…๏ผˆGerstman-Strรคussler-Scheinker๏ผšGSS๏ผ‰ใ€่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡๏ผˆfatal familial insomnia๏ผšFFI๏ผ‰๏ผ‰ใ€ไป–ใ‹ใ‚‰ใฎใƒ—ใƒชใ‚ชใƒณๆ„ŸๆŸ“ใซใ‚ˆใ‚‹็ฒๅพ—ๆ€ง๏ผˆenvironmentally acquired๏ผ‰๏ผˆใ‚ฏใƒผใƒซใƒผใ€ๅŒปๅŽŸๆ€งใ€ๅค‰็•ฐๅž‹๏ผˆvariant Creutzfeldt-Jakob disease๏ผšvCJD๏ผ‰๏ผ‰ใฎ๏ผ“็จฎ้กžใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ไบบ็ฃๅ…ฑ้€šๆ„ŸๆŸ“็—‡ใงใ‚ใ‚Šใ€ใƒ’ใƒˆไปฅๅค–ใงใฏใ€็‰›ใฎ็‰›ๆตท็ถฟ็Šถ่„ณ็—‡๏ผˆBSE๏ผ‰ใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200186 + Prion disease + ใทใ‚ŠใŠใ‚“ใณใ‚‡ใ† ใƒ—ใƒชใ‚ชใƒณ็—… - + ใƒ—ใƒชใ‚ชใƒณ็—… - - 23 - 1200187 - + + 23 + NANDO:1200187 + Sporadic Creutzfeldt-Jakob disease + ใ“ใฏใคใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ† ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… - - + + sCJD + ็‰น็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… - - 23 - 1200188 - - Genetic Prion Diseases + + 23 + NANDO:1200188 + + Genetic prion diseases + ใ„ใงใ‚“ใ›ใ„ใทใ‚ŠใŠใ‚“ใณใ‚‡ใ† ้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—… - + + ้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—… - - 23 - 1200189 - - Familial Creutzfeldt-Jakob Disease - ๅฎถๆ—ๆ€งCJD + + 23 + NANDO:1200189 + + Familial Creutzfeldt-Jakob disease + ใ‹ใžใใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ† + ๅฎถๆ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… + - - ๅฎถๆ—ๆ€งCJD - - - 23 - 1200190 - + + ๅฎถๆ—ๆ€งCJD + + ๅฎถๆ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… + + + 23 + NANDO:1200190 + Gerstmann-Straussler-Scheinker syndrome + ใ’ใ‚‹ใ™ใจใพใ‚“ใƒปใ™ใจใ‚ใ„ใ™ใ‚‰ใƒผใƒปใ—ใ‚ƒใ„ใ‚“ใ‹ใƒผใณใ‚‡ใ† ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—… - - + + GSS ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—… - - 23 - 1200191 - - fatal familial insomnia + + 23 + NANDO:1200191 + + Fatal familial insomnia + ใกใ—ใ›ใ„ใ‹ใžใใ›ใ„ใตใฟใ‚“ใ—ใ‚‡ใ† ่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡ - - + + FFI ่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡ - - 23 - 1200192 - - Acquired Creutzfeldt-Jakob disease + + 23 + NANDO:1200192 + + Environmentally acquired Creutzfeldt-Jakob disease + ใ‹ใใจใใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ† ็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… - + ็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… - - 23 - 1200193 - + + 23 + NANDO:1200193 + Iatrogenic Creutzfeldt-Jakob disease + ใ„ใ’ใ‚“ใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ† ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… - + + Iatrogenic CJD + ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—… - - 23 - 1200194 - - variant Creutzfeldt-Jakob disease + + 23 + NANDO:1200194 + + Variant Creutzfeldt-Jakob disease + ใธใ‚“ใ„ใŒใŸใใ‚ใ„ใคใตใ‡ใ‚‹ใจใ‚„ใ“ใถใณใ‚‡ใ† ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—… - + vCJD ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—… - - 24 - ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitis๏ผšSSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ใƒ’ใƒˆใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆprogressive multifocal leukoencephalopathy๏ผšPML๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200195 - + + 24 + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitis๏ผšSSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ใƒ’ใƒˆใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆprogressive multifocal leukoencephalopathy๏ผšPML๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200195 + Subacute sclerosing panencephalitis + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“ ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + - + + SSPE ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž - - 24 - 1200196 - + + 24 + NANDO:1200196 + + Typical subacute sclerosing panencephalitis + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใฆใ‚“ใ‘ใ„๏ผ‰ ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰ + - - - - 24 - 1200197 - - ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹ + + + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰ + + + 24 + NANDO:1200197 + + Rapidly progressive subacute sclerosing panencephalitis + ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“ + ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + - - - - 24 - 1200198 - - ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹ + + + ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + + + 24 + NANDO:1200198 + + Subacute progressive sclerosing panencephalitis + ใ‚ใใ‚…ใ†ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“ + ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + - - - - - 24 - 1200199 - - ็ทฉๅพ้€ฒ่กŒๅž‹ + + + + ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + + + 24 + NANDO:1200199 + + Slowly progressive subacute sclerosing panencephalitis + ใ‹ใ‚“ใ˜ใ‚‡ใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“ + ็ทฉๅพ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + - - - - 24 - 1200200 - - ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹ + + + ็ทฉๅพ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + + + 24 + NANDO:1200200 + + Chronic relapsing-remitting subacute sclerosing panencephalitis + ใพใ‚“ใ›ใ„ใ•ใ„ใฏใค-ใ‹ใ‚“ใ‹ใ„ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“ + ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + - - + + + + ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž - - 24 - 1200201 - + + 24 + NANDO:1200201 + Atypical subacute sclerosing panencephalitis + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใฒใฆใ‚“ใ‘ใ„๏ผ‰ ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰ + - + + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰ - - 24 - 1200202 - - ็—‡็Šถใ‹ใ‚™็—™ๆ”ฃใฎใฟใฎไพ‹ + + 24 + NANDO:1200202 + + Subacute sclerosing panencephalitis presenting only with convulsion + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใ—ใ‚‡ใ†ใ˜ใ‚‡ใ†ใŒใ‘ใ„ใ‚Œใ‚“ใฎใฟใฎใ‚Œใ„๏ผ‰ + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ็—‡็ŠถใŒ็—™ๆ”ฃใฎใฟใฎไพ‹๏ผ‰ + - - - - 24 - 1200203 - - Jabbour ๅˆ†้กžใฎ I ๆœŸใ‹ใ‚™ ้ทๅปถใ™ใ‚‹ไพ‹ + + + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ็—‡็ŠถใŒ็—™ๆ”ฃใฎใฟใฎไพ‹๏ผ‰ + + + 24 + NANDO:1200203 + + Subacute sclerosing panencephalitis with prolonged Jabbour's clinical stage I + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใ˜ใ‚ƒใฐใƒผใถใ‚“ใ‚‹ใ„ใฎ1ใใŒใ›ใ‚“ใˆใ‚“ใ™ใ‚‹ใ‚Œใ„๏ผ‰ + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆJabbourๅˆ†้กžใฎ I ๆœŸใŒ้ทๅปถใ™ใ‚‹ไพ‹๏ผ‰ + - - - - - 24 - 1200204 - - ไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹ + + + + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆJabbourๅˆ†้กžใฎ I ๆœŸใŒ้ทๅปถใ™ใ‚‹ไพ‹๏ผ‰ + + + 24 + NANDO:1200204 + + Subacute sclerosing panencephalitis in infants or adults + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใซใ‚…ใ†ใ˜ใ‚ใ‚‹ใ„ใฏใ›ใ„ใ˜ใ‚“ใ‚Œใ„๏ผ‰ + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹๏ผ‰ + - - + + + + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹๏ผ‰ - - 25 - ๅคšใใฎไบบใซๆฝœไผๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹JCใ‚ฆใ‚คใƒซใ‚นใŒใ€ๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ—ใŸ็Šถๆณใงๅ†ๆดปๆ€งๅŒ–ใ—ใฆ่„ณๅ†…ใซๅคš็™บๆ€งใฎ่„ฑ้ซ„็—…ๅทฃใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆใงใฎ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆProgressive Multifocal Leukoencephalopathy๏ผšPML๏ผ‰ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใฏใ€HIVๆ„ŸๆŸ“็—‡ใ‚„่ก€ๆถฒ็ณปๆ‚ชๆ€ง่…ซ็˜ใŒๅคšใใ€่† ๅŽŸ็—…๏ผ็ตๅˆ็น”็—…ใชใฉใŒ็ถšใใ€‚ๆฌง็ฑณใงใฏPMLใฎๅŸบ็คŽ็–พๆ‚ฃใฎๅคšใใ‚’HIVๆ„ŸๆŸ“็—‡ใŒๅ ใ‚ใ‚‹ใŒ๏ผˆ็ด„85๏ผ…๏ผ‰ใ€ๆœฌ้‚ฆใงใฏใใฎๅŸบ็คŽ็–พๆ‚ฃใฏๆฏ”่ผƒ็š„ๅคšๅฒใซใ‚ใŸใ‚‹็ตๆžœใงใ‚ใ‚‹ใ€‚JCใ‚ฆใ‚คใƒซใ‚นใฎๅˆๆ„ŸๆŸ“ใฏๅนผใƒปๅฐๅ…ๆœŸใซ่ตทใ“ใ‚Šใ€ๆˆไบบใฎๆŠ—ไฝ“ไฟๆœ‰็Ž‡ใฏๅ…จไบบๅฃใฎ80๏ผ…็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ - 1200205 - + + 25 + ๅคšใใฎไบบใซๆฝœไผๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹JCใ‚ฆใ‚คใƒซใ‚นใŒใ€ๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ—ใŸ็Šถๆณใงๅ†ๆดปๆ€งๅŒ–ใ—ใฆ่„ณๅ†…ใซๅคš็™บๆ€งใฎ่„ฑ้ซ„็—…ๅทฃใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆใงใฎ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆProgressive Multifocal Leukoencephalopathy๏ผšPML๏ผ‰ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใฏใ€HIVๆ„ŸๆŸ“็—‡ใ‚„่ก€ๆถฒ็ณปๆ‚ชๆ€ง่…ซ็˜ใŒๅคšใใ€่† ๅŽŸ็—…๏ผ็ตๅˆ็น”็—…ใชใฉใŒ็ถšใใ€‚ๆฌง็ฑณใงใฏPMLใฎๅŸบ็คŽ็–พๆ‚ฃใฎๅคšใใ‚’HIVๆ„ŸๆŸ“็—‡ใŒๅ ใ‚ใ‚‹ใŒ๏ผˆ็ด„85๏ผ…๏ผ‰ใ€ๆœฌ้‚ฆใงใฏใใฎๅŸบ็คŽ็–พๆ‚ฃใฏๆฏ”่ผƒ็š„ๅคšๅฒใซใ‚ใŸใ‚‹็ตๆžœใงใ‚ใ‚‹ใ€‚JCใ‚ฆใ‚คใƒซใ‚นใฎๅˆๆ„ŸๆŸ“ใฏๅนผใƒปๅฐๅ…ๆœŸใซ่ตทใ“ใ‚Šใ€ๆˆไบบใฎๆŠ—ไฝ“ไฟๆœ‰็Ž‡ใฏๅ…จไบบๅฃใฎ80๏ผ…็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200205 + Progressive multifocal leukoencephalopathy + ใ—ใ‚“ใ“ใ†ใ›ใ„ใŸใใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡ - - + + + PML ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡ - - 26 - HTLV-1ใฎใ‚ญใƒฃใƒชใ‚ขใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็—™ๆ€ง่„Š้ซ„้บป็—บใ‚’็คบใ™ไธ€็พคใ€‚ - 1200206 - - HTLV-1-associated Myelopathy + + 26 + HTLV-1ใฎใ‚ญใƒฃใƒชใ‚ขใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็—™ๆ€ง่„Š้ซ„้บป็—บใ‚’็คบใ™ไธ€็พคใ€‚ + NANDO:1200206 + + HTLV-1-associated myelopathy HTLV-1้–ข้€ฃ่„Š้ซ„็—‡ + ใˆใ„ใกใฆใƒใƒผใˆใ‚‹ใถใ„1ใ‹ใ‚“ใ‚Œใ‚“ใ›ใใšใ„ใ—ใ‚‡ใ† + - - + + + HAM + HAM + HTLV-1้–ข้€ฃ่„Š้ซ„็—‡ - - 27 - 1930ๅนดใ€ใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…Theodor Fahr๏ผˆ1877๏ฝž1945๏ผ‰ใŒ็—…็†ๅญฆ็š„ใช็—‡ไพ‹ๅ ฑๅ‘Šใ‚’ใ—ใฆใ€ใใฎๅๅ‰ใŒ็—…ๅใซใคใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใƒ•ใ‚กใƒผใƒซ๏ผˆFahr๏ผ‰็—…ใจใ„ใ†็—…ๅใฏ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆ›–ๆ˜งใชใจใ“ใ‚ใŒใ‚ใ‚Šใ€ใ“ใ‚Œใพใงใ‚‚ๅคšใใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใ€ๆตทๅค–ใงใฏfamilial idiopathic basal ganglia calcification๏ผˆFIBGC๏ผ‰ใ€primary familial brain calcification๏ผˆPFBC๏ผ‰ใชใฉๆง˜ใ€…ใชๅ็งฐใŒไฝฟใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€ไธกๅดๅŸบๅบ•ๆ ธใซๆ˜Žใ‚‰ใ‹ใช็—…็š„ใช็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ€ไธ‹่จ˜ใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ใ‚‹้‘‘ๅˆฅ็–พๆ‚ฃใŒใชใ•ใ‚ŒใŸใ‚‚ใฎใ‚’็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆIdiopathic basal ganglia calcification๏ผšIBGC๏ผ‰ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅฎถๆ—ไพ‹๏ผˆๅฎถ็ณปๅ†…ใซ่ค‡ๆ•ฐใฎๅŒๆง˜ใฎๆ‚ฃ่€…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚๏ผ‰ใจๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใ‚„ใ€ๅพŒ่ฟฐใฎ้บไผๅญ็•ฐๅธธใŒๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใฏใ€ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆfamilial Idiopathic basal ganglia calcification๏ผšFIBGC๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ๅฝ“ๅˆใ€ๅญค็™บไพ‹ใจๆ€ใ‚ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ใใฎๅพŒใฎ่‡จๅบŠ็š„ๆคœ็ดขใ‹ใ‚‰ใ€ๅฎถๆ—ไพ‹ใจๅˆคๆ˜Žใ™ใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไปŠๅพŒใ€ๅฎถๆ—ไพ‹ใ‚’ไธปใซๆ›ดใชใ‚‹ๅŽŸๅ› ้บไผๅญใŒๅˆคๆ˜Žใ—ใฆใ„ใใ‚‚ใฎใจๆ€ใ‚ใ‚Œใ‚‹ใ€‚ - 1200207 - + + 27 + 1930ๅนดใ€ใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…Theodor Fahr๏ผˆ1877๏ฝž1945๏ผ‰ใŒ็—…็†ๅญฆ็š„ใช็—‡ไพ‹ๅ ฑๅ‘Šใ‚’ใ—ใฆใ€ใใฎๅๅ‰ใŒ็—…ๅใซใคใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใƒ•ใ‚กใƒผใƒซ๏ผˆFahr๏ผ‰็—…ใจใ„ใ†็—…ๅใฏ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆ›–ๆ˜งใชใจใ“ใ‚ใŒใ‚ใ‚Šใ€ใ“ใ‚Œใพใงใ‚‚ๅคšใใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใ€ๆตทๅค–ใงใฏfamilial idiopathic basal ganglia calcification๏ผˆFIBGC๏ผ‰ใ€primary familial brain calcification๏ผˆPFBC๏ผ‰ใชใฉๆง˜ใ€…ใชๅ็งฐใŒไฝฟใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€ไธกๅดๅŸบๅบ•ๆ ธใซๆ˜Žใ‚‰ใ‹ใช็—…็š„ใช็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ€ไธ‹่จ˜ใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ใ‚‹้‘‘ๅˆฅ็–พๆ‚ฃใŒใชใ•ใ‚ŒใŸใ‚‚ใฎใ‚’็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆIdiopathic basal ganglia calcification๏ผšIBGC๏ผ‰ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅฎถๆ—ไพ‹๏ผˆๅฎถ็ณปๅ†…ใซ่ค‡ๆ•ฐใฎๅŒๆง˜ใฎๆ‚ฃ่€…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚๏ผ‰ใจๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใ‚„ใ€ๅพŒ่ฟฐใฎ้บไผๅญ็•ฐๅธธใŒๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใฏใ€ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆfamilial Idiopathic basal ganglia calcification๏ผšFIBGC๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ๅฝ“ๅˆใ€ๅญค็™บไพ‹ใจๆ€ใ‚ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ใใฎๅพŒใฎ่‡จๅบŠ็š„ๆคœ็ดขใ‹ใ‚‰ใ€ๅฎถๆ—ไพ‹ใจๅˆคๆ˜Žใ™ใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไปŠๅพŒใ€ๅฎถๆ—ไพ‹ใ‚’ไธปใซๆ›ดใชใ‚‹ๅŽŸๅ› ้บไผๅญใŒๅˆคๆ˜Žใ—ใฆใ„ใใ‚‚ใฎใจๆ€ใ‚ใ‚Œใ‚‹ใ€‚ + NANDO:1200207 + Idiopathic basal ganglia calcification + ใจใใฏใคใ›ใ„ใใฆใ„ใ‹ใใ›ใฃใ‹ใ„ใ‹ใ—ใ‚‡ใ† ็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡ - - + + + IBGC ็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡ - - 27 - 1200208 - + + 27 + NANDO:1200208 + Familial idiopathic basal ganglia calcification + ใ‹ใžใใ›ใ„ใจใฃใฑใคใ›ใ„ใใฆใ„ใ‹ใใ›ใฃใ‹ใ„ใ‹ใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡ + + - - + + + FIBGC + FIBGC + ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡ - - 28 - ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น๏ผˆamyloidosis๏ผ‰ใฏใ€็ทš็ถญๆง‹้€ ใ‚’ใ‚‚ใค่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒใ€ๅ…จ่บซ่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ€€ใ‚ขใƒŸใƒญใ‚คใƒ‰ใฏใ€็—…็†ๅญฆ็š„ใซใ‚ขใƒซใ‚ซใƒชใ‚ณใƒณใ‚ด่ตคๆŸ“่‰ฒใงๆฉ™่ตค่‰ฒใซๆŸ“ใพใ‚Šใ€ๅๅ…‰้ก•ๅพฎ้กไธ‹ใง็ท‘่‰ฒใฎ่ค‡ๅฑˆๆŠ˜ใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่›‹็™ฝ่ณชใŒ็ซ‹ไฝ“ๆง‹้€ ๏ผˆใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ๏ผ‰ใ‚’ๅค‰ๅŒ–ใ•ใ›ใฆใ‚ขใƒŸใƒญใ‚คใƒ‰ใจใ—ใฆๅ‡้›†ใ—็–พๆ‚ฃใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‹ใ‚‰ใ€ใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ็—…ใฎ๏ผ‘ใคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200209 - + + 28 + ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น๏ผˆamyloidosis๏ผ‰ใฏใ€็ทš็ถญๆง‹้€ ใ‚’ใ‚‚ใค่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒใ€ๅ…จ่บซ่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ€€ใ‚ขใƒŸใƒญใ‚คใƒ‰ใฏใ€็—…็†ๅญฆ็š„ใซใ‚ขใƒซใ‚ซใƒชใ‚ณใƒณใ‚ด่ตคๆŸ“่‰ฒใงๆฉ™่ตค่‰ฒใซๆŸ“ใพใ‚Šใ€ๅๅ…‰้ก•ๅพฎ้กไธ‹ใง็ท‘่‰ฒใฎ่ค‡ๅฑˆๆŠ˜ใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่›‹็™ฝ่ณชใŒ็ซ‹ไฝ“ๆง‹้€ ๏ผˆใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ๏ผ‰ใ‚’ๅค‰ๅŒ–ใ•ใ›ใฆใ‚ขใƒŸใƒญใ‚คใƒ‰ใจใ—ใฆๅ‡้›†ใ—็–พๆ‚ฃใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‹ใ‚‰ใ€ใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ็—…ใฎ๏ผ‘ใคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200209 + Systemic amyloidosis + ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™ ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - + + ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - 28 - 1200210 - - ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹(TTR)ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น + + 28 + NANDO:1200210 + + AL amyloidosis; Transthyretin-related senile systemic amyloidosis + ใ‚ใ‚“ใˆใใใ‚ใถใ‚Šใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™;ใ‚ใ†ใ˜ใ‚“ใ›ใ„ใจใ‚‰ใ‚“ใ™ใ•ใ„ใ‚Œใกใ‚“ใŒใŸ๏ผˆใฆใƒใƒผใฆใƒใƒผใ‚ใƒผใ‚‹๏ผ‰ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™;ใฏใ‚“ใฎใ†ใ›ใ„ใˆใƒผใˆใƒผใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™ + ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹๏ผˆTTR๏ผ‰ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - - - 28 - 1200211 - - AL amyloidosis + + ALใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น + Immunoglobulin-related amyloidosis + ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹๏ผˆTTR๏ผ‰ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น + + + 28 + NANDO:1200211 + + Amyloid light-chain amyloidosis + ใ‚ใ‚“ใˆใใใ‚ใถใ‚Šใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™ ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - - + + + AL amyloidosis + ALใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น + Immunoglobulin-related amyloidosis ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - 28 - 1200212 - - senile systemic amyloidosis + + 28 + NANDO:1200212 + + Transthyretin-related senile systemic amyloidosis + ใ‚ใ†ใ˜ใ‚“ใ›ใ„ใจใ‚‰ใ‚“ใ™ใ•ใ„ใ‚Œใกใ‚“ใŒใŸใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™ ่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - - SSA + + + ่€ไบบๆ€งTTRใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น + ่€ไบบๆ€งๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น ่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - 28 - 1200213 - + + 28 + NANDO:1200213 + Reactive AA amyloidosis + ใฏใ‚“ใฎใ†ใ›ใ„ใˆใƒผใˆใƒผใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™ ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - + + + ๅๅฟœๆ€งAA + ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น - - 28 - 1200214 - + + 28 + NANDO:1200214 + Familial amyloid polyneuropathy + ใ‹ใžใใ›ใ„ใ‚ใฟใ‚ใ„ใฉใซใ‚…ใƒผใ‚ใฑใกใƒผ ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - + + + FAP + FAP ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - 29 - ็”Ÿไธ‹ๆ™‚ๅˆใฏไนณๅ…ๆ—ฉๆœŸใ‹ใ‚‰ใ€้ก”้ข็ญ‹ใ‚’ๅซใ‚€ๅ…จ่ˆฌๆ€งใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใ‚’ๆฅใ™ใ€‚้ ไฝ้–ข็ฏ€ใฎ้Žไผธๅฑ•ใจ่ฟ‘ไฝ้–ข็ฏ€ใฎๆ‹˜็ธฎใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคงๅŠใŒๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€ไธ€้ƒจใซๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ไพ‹ใŒใ‚ใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใฆใŠใ‚Šใ€Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎ้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็ต„็น”ๅญฆ็š„ใซใฏ็ญ‹็ทš็ถญๅฃŠๆญปใƒปๅ†็”Ÿๅค‰ๅŒ–ใŒไนใ—ใใ€ใ„ใ‚ใ‚†ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็•ฐใชใ‚‹็—…ๆ…‹ใŒใ‚ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎไธญ้–ขๅž‹ใจใ‚‚่จ€ใˆใ‚‹็ญ‹็กฌๅŒ–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎๅญ˜ๅœจใ‚’ไธปๅผตใ™ใ‚‹็ ”็ฉถ่€…ใ‚‚ใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€ๆใ‚‰ใไธ€้€ฃใฎใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใงใฏใชใ„ใ‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200215 - + + 29 + ็”Ÿไธ‹ๆ™‚ๅˆใฏไนณๅ…ๆ—ฉๆœŸใ‹ใ‚‰ใ€้ก”้ข็ญ‹ใ‚’ๅซใ‚€ๅ…จ่ˆฌๆ€งใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใ‚’ๆฅใ™ใ€‚้ ไฝ้–ข็ฏ€ใฎ้Žไผธๅฑ•ใจ่ฟ‘ไฝ้–ข็ฏ€ใฎๆ‹˜็ธฎใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคงๅŠใŒๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€ไธ€้ƒจใซๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ไพ‹ใŒใ‚ใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใฆใŠใ‚Šใ€Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎ้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็ต„็น”ๅญฆ็š„ใซใฏ็ญ‹็ทš็ถญๅฃŠๆญปใƒปๅ†็”Ÿๅค‰ๅŒ–ใŒไนใ—ใใ€ใ„ใ‚ใ‚†ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็•ฐใชใ‚‹็—…ๆ…‹ใŒใ‚ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎไธญ้–ขๅž‹ใจใ‚‚่จ€ใˆใ‚‹็ญ‹็กฌๅŒ–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎๅญ˜ๅœจใ‚’ไธปๅผตใ™ใ‚‹็ ”็ฉถ่€…ใ‚‚ใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€ๆใ‚‰ใไธ€้€ฃใฎใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใงใฏใชใ„ใ‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200215 + Ullrich disease + ใ†ใ‚‹ใ‚Šใฃใฒใณใ‚‡ใ† ใ‚ฆใƒซใƒชใƒƒใƒ’็—… - - + + + Ullrich congenital muscular dystrophy + Ullrich's disease + ใ‚ฆใƒซใƒชใƒƒใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ ใ‚ฆใƒซใƒชใƒƒใƒ’็—… - - 30 - ้ ไฝ็ญ‹ใŒๅฅฝใ‚“ใงไพตใ•ใ‚Œใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใฎ็ท็งฐใ€‚ไธ–็•Œ็š„ใซใฏๅฐ‘ใชใใจใ‚‚๏ผ™ใคใฎ็•ฐใชใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใพใงใฎใจใ“ใ‚ใ€ๆœฌ้‚ฆใงใฏใ€Œ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆ้บไผๅฝขๅผไธๆ˜Ž๏ผ‰ใฎ๏ผ“็–พๆ‚ฃใ—ใ‹่ฆ‹ใ„ใ ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ„ใšใ‚Œใ‚‚ๆœฌ้‚ฆใซใŠใ„ใฆ็™บ่ฆ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200216 - + + 30 + ้ ไฝ็ญ‹ใŒๅฅฝใ‚“ใงไพตใ•ใ‚Œใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใฎ็ท็งฐใ€‚ไธ–็•Œ็š„ใซใฏๅฐ‘ใชใใจใ‚‚๏ผ™ใคใฎ็•ฐใชใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใพใงใฎใจใ“ใ‚ใ€ๆœฌ้‚ฆใงใฏใ€Œ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆ้บไผๅฝขๅผไธๆ˜Ž๏ผ‰ใฎ๏ผ“็–พๆ‚ฃใ—ใ‹่ฆ‹ใ„ใ ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ„ใšใ‚Œใ‚‚ๆœฌ้‚ฆใซใŠใ„ใฆ็™บ่ฆ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200216 + Distal myopathy + ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ + - - + + ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ - - 30 - 1200217 - + + 30 + NANDO:1200217 + Miyoshi myopathy + ใฟใ‚ˆใ—ใŒใŸใฟใŠใฑใกใƒผ ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ - - - + + + Distal dysferlinopathy + Miyoshi distal myopathy - ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ - - 30 - 1200218 - + + 30 + NANDO:1200218 + Distal myopathy with rimmed vacuoles + ใตใกใฉใ‚Šใใ†ใปใ†ใ‚’ใจใ‚‚ใชใ†ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ + + - - + + + DMRV + GNE myopathy + GNEใƒŸใ‚ชใƒ‘ใƒใƒผ + ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ - - 30 - 1200219 - + + 30 + NANDO:1200219 + Oculopharyngodistal myopathy + ใŒใ‚“ใ„ใ‚“ใจใ†ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ - - - + + + + ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ - - 31 - ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹่ฟ‘ไฝ็ญ‹ๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใซๅŠ ใˆใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‚ˆใ‚Šๆ‰‹ๆŒ‡ใƒป่‚˜้–ข็ฏ€ใƒป่ถณ้–ข็ฏ€ใชใฉใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’ไผดใ†ใƒŸใ‚ชใƒ‘ใƒใƒผใงใ‚ใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใงใ‚ใ‚‹ใŒใ€ๆœ€่ฟ‘ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใ€‚ ่‹ฑๅ›ฝใฎ็–ซๅญฆ่ชฟๆŸปใงใฏใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆœ‰็—…็Ž‡0.77๏ผˆ10ไธ‡ๅฏพ๏ผ‰ใงใ‚ใ‚‹ใ€‚Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธญใงใฏใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใŒ้ซ˜้ ปๅบฆใงใ‚ใ‚‹ใ€‚ๅนณๆˆ22ๅนดๅบฆๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ่ฒป่ฃœๅŠฉ้‡‘้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใใฎ้กž็ธ็–พๆ‚ฃใฎๅฎŸๆ…‹่ชฟๆŸป๏ผˆ่ฅฟ้‡Ž็ญ๏ผ‰ใ€ใง็–ซๅญฆ่ชฟๆŸปใŒ่กŒใ‚ใ‚ŒใŸใŒใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆ‚ฃ่€…ๆ•ฐใฏใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎๆ‚ฃ่€…ๆ•ฐใฎ1/10็จ‹ๅบฆใงใ‚ใ‚Šใ€ๆœฌ้‚ฆใงใฏใ€ๅคง้ƒจๅˆ†ใฎไพ‹ใŒๆœช่จบๆ–ญใฎใพใพใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใ€ๆœฌ้‚ฆใ‹ใ‚‰ใฏใ€1989ๅนดใจ1992ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ไธกไพ‹ใจใ‚‚ใซ้บไผๅญฆ็š„ใซ่จบๆ–ญใŒ็ขบๅฎšใ—ใฆใ„ใชใ„ใ€‚ - 1200220 - + + 31 + ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹่ฟ‘ไฝ็ญ‹ๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใซๅŠ ใˆใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‚ˆใ‚Šๆ‰‹ๆŒ‡ใƒป่‚˜้–ข็ฏ€ใƒป่ถณ้–ข็ฏ€ใชใฉใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’ไผดใ†ใƒŸใ‚ชใƒ‘ใƒใƒผใงใ‚ใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใงใ‚ใ‚‹ใŒใ€ๆœ€่ฟ‘ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใ€‚ ่‹ฑๅ›ฝใฎ็–ซๅญฆ่ชฟๆŸปใงใฏใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆœ‰็—…็Ž‡0.77๏ผˆ10ไธ‡ๅฏพ๏ผ‰ใงใ‚ใ‚‹ใ€‚Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธญใงใฏใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใŒ้ซ˜้ ปๅบฆใงใ‚ใ‚‹ใ€‚ๅนณๆˆ22ๅนดๅบฆๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ่ฒป่ฃœๅŠฉ้‡‘้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใใฎ้กž็ธ็–พๆ‚ฃใฎๅฎŸๆ…‹่ชฟๆŸป๏ผˆ่ฅฟ้‡Ž็ญ๏ผ‰ใ€ใง็–ซๅญฆ่ชฟๆŸปใŒ่กŒใ‚ใ‚ŒใŸใŒใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆ‚ฃ่€…ๆ•ฐใฏใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎๆ‚ฃ่€…ๆ•ฐใฎ1/10็จ‹ๅบฆใงใ‚ใ‚Šใ€ๆœฌ้‚ฆใงใฏใ€ๅคง้ƒจๅˆ†ใฎไพ‹ใŒๆœช่จบๆ–ญใฎใพใพใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใ€ๆœฌ้‚ฆใ‹ใ‚‰ใฏใ€1989ๅนดใจ1992ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ไธกไพ‹ใจใ‚‚ใซ้บไผๅญฆ็š„ใซ่จบๆ–ญใŒ็ขบๅฎšใ—ใฆใ„ใชใ„ใ€‚ + NANDO:1200220 + Bethlem Myopathy + ในใ™ใ‚Œใ‚€ใฟใŠใฑใกใƒผ ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ - - - + + - ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ - - 32 - ้ชจๆ ผ็ญ‹ใฎ็ญ‹็ทš็ถญๅ†…ใซ็‰นๅพด็š„ใช่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžใŒๅ‡บ็พใ™ใ‚‹ๆฅตใ‚ใฆ็จ€ๅฐ‘ใช้บไผๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ€ๅŽŸๅ› ไธๆ˜Žใงๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚่‡ดๆญปๆ€งๅฟƒ็ญ‹็—‡ใจ้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใƒ‘ใƒใƒผ๏ผˆ็ญ‹ๅŠ›ไฝŽไธ‹ใƒป็ญ‹่Ž็ธฎ๏ผ‰ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช้€ฒ่กŒๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200221 - + + 32 + ้ชจๆ ผ็ญ‹ใฎ็ญ‹็ทš็ถญๅ†…ใซ็‰นๅพด็š„ใช่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžใŒๅ‡บ็พใ™ใ‚‹ๆฅตใ‚ใฆ็จ€ๅฐ‘ใช้บไผๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ€ๅŽŸๅ› ไธๆ˜Žใงๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚่‡ดๆญปๆ€งๅฟƒ็ญ‹็—‡ใจ้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใƒ‘ใƒใƒผ๏ผˆ็ญ‹ๅŠ›ไฝŽไธ‹ใƒป็ญ‹่Ž็ธฎ๏ผ‰ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช้€ฒ่กŒๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200221 + Autophagic vacuolar myopathy + ใ˜ใ“ใฉใ‚“ใ—ใ‚‡ใใใ†ใปใ†ใ›ใ„ใฟใŠใฑใกใƒผ ่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - + + ่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - 32 - 1200222 - + + 32 + NANDO:1200222 + Danon disease - Danon็—… + ใ ใฎใ‚“ใณใ‚‡ใ† + ใƒ€ใƒŽใƒณ็—… + - - - + + + Danon็—… - Danon็—… + ใƒ€ใƒŽใƒณ็—… - - 32 - 1200223 - + + 32 + NANDO:1200223 + X-linked Myopathy with excessive autophagy + ใ‹ใ˜ใ‚‡ใ†ใ˜ใ“ใฉใ‚“ใ—ใ‚‡ใใ‚’ใจใ‚‚ใชใ†ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใฟใŠใฑใกใƒผ ้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - + + XMEA + XMEA ้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - 33 - ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค๏ผˆSchwartz-Jampel syndrome๏ผšSJS๏ผ‰ใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ๅˆใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ใ€€SJSใฏใ€1997ๅนดใซGiedionใ‚‰ใซใ‚ˆใ‚Š่‡จๅบŠๅž‹ใ‹ใ‚‰๏ผ‘๏ผกใ€๏ผ‘๏ผขใ€๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใ€‚๏ผ‘๏ผกใจ๏ผ‘๏ผขใฏ้‡็—‡ๅบฆใซใ‚ˆใฃใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€ๆ˜Ž็ขบใชๅŒบๅˆ†ใฏ้›ฃใ—ใ„ใ€‚็ญ‹็—‡็Šถใจ้ชจใ€่ปŸ้ชจ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸ่‡ดๆญปใ‚’ๅ‘ˆใ™ใ‚‹๏ผ’ๅž‹ใฏใ€็พๅœจใงใฏใ€leukemia inhibitory factor receptor๏ผˆLIFR๏ผ‰้บไผๅญๅค‰็•ฐใซ่ตทๅ› ใ™ใ‚‹Stuve-Wiedemann็—‡ๅ€™็พคใจๅŒไธ€ใฎ็–พๆ‚ฃใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200224 - + + 33 + ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค๏ผˆSchwartz-Jampel syndrome๏ผšSJS๏ผ‰ใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ๅˆใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ใ€€SJSใฏใ€1997ๅนดใซGiedionใ‚‰ใซใ‚ˆใ‚Š่‡จๅบŠๅž‹ใ‹ใ‚‰๏ผ‘๏ผกใ€๏ผ‘๏ผขใ€๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใ€‚๏ผ‘๏ผกใจ๏ผ‘๏ผขใฏ้‡็—‡ๅบฆใซใ‚ˆใฃใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€ๆ˜Ž็ขบใชๅŒบๅˆ†ใฏ้›ฃใ—ใ„ใ€‚็ญ‹็—‡็Šถใจ้ชจใ€่ปŸ้ชจ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸ่‡ดๆญปใ‚’ๅ‘ˆใ™ใ‚‹๏ผ’ๅž‹ใฏใ€็พๅœจใงใฏใ€leukemia inhibitory factor receptor๏ผˆLIFR๏ผ‰้บไผๅญๅค‰็•ฐใซ่ตทๅ› ใ™ใ‚‹Stuve-Wiedemann็—‡ๅ€™็พคใจๅŒไธ€ใฎ็–พๆ‚ฃใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200224 + Schwartz-Jampel syndrome + ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค + - - + + + SJS + Schwartz-Jampel็—‡ๅ€™็พค ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค - - 34 - ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹๏ผˆneurofibromatosis type1๏ผšNF1ใ€ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…๏ผ‰ใฏใ€ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจ็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–้ชจใ€็œผใ€็ฅž็ตŒ็ณปใ€๏ผˆๅ‰ฏ่…Žใ€ๆถˆๅŒ–็ฎก๏ผ‰ใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹๏ผˆneurofibromatosis type2๏ผšNF2๏ผ‰ใฏใ€ไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹่ด็ฅž็ตŒ้ž˜่…ซ๏ผˆๅ‰ๅบญ็ฅž็ตŒ้ž˜่…ซ๏ผ‰ใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–ใฎ็ฅž็ตŒ็ณป่…ซ็˜๏ผˆ่„ณๅŠใณ่„Š้ซ„็ฅž็ตŒ้ž˜่…ซใ€้ซ„่†œ่…ซใ€่„Š้ซ„ไธŠ่กฃ่…ซ๏ผ‰ใ‚„็šฎ่†š็—…ๅค‰๏ผˆ็šฎไธ‹ใ‚„็šฎๅ†…ใฎๆœซๆขข็ฅž็ตŒ้ž˜่…ซใ€่‰ฒ็ด ๆ–‘๏ผ‰ใ€็œผ็—…ๅค‰๏ผˆ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200225 + + 34 + ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹๏ผˆneurofibromatosis type1๏ผšNF1ใ€ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…๏ผ‰ใฏใ€ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจ็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–้ชจใ€็œผใ€็ฅž็ตŒ็ณปใ€๏ผˆๅ‰ฏ่…Žใ€ๆถˆๅŒ–็ฎก๏ผ‰ใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹๏ผˆneurofibromatosis type2๏ผšNF2๏ผ‰ใฏใ€ไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹่ด็ฅž็ตŒ้ž˜่…ซ๏ผˆๅ‰ๅบญ็ฅž็ตŒ้ž˜่…ซ๏ผ‰ใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–ใฎ็ฅž็ตŒ็ณป่…ซ็˜๏ผˆ่„ณๅŠใณ่„Š้ซ„็ฅž็ตŒ้ž˜่…ซใ€้ซ„่†œ่…ซใ€่„Š้ซ„ไธŠ่กฃ่…ซ๏ผ‰ใ‚„็šฎ่†š็—…ๅค‰๏ผˆ็šฎไธ‹ใ‚„็šฎๅ†…ใฎๆœซๆขข็ฅž็ตŒ้ž˜่…ซใ€่‰ฒ็ด ๆ–‘๏ผ‰ใ€็œผ็—…ๅค‰๏ผˆ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200225 Neurofibromatosis + ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ† ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡ - + ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡ - - 34 - 1200226 - - Neurofibromatosis Type 1 + + 34 + NANDO:1200226 + + Neurofibromatosis type 1 + ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†1ใŒใŸ ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹ - - + + + NF1 + ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹ - - 34 - 1200227 - - Neurofibromatosis Type 2 - ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ…กๅž‹ + + 34 + NANDO:1200227 + + Neurofibromatosis type 2 + ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†2ใŒใŸ + ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹ + - - + + + NF2 - ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ…กๅž‹ + ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹ - - 35 - ๅคฉ็–ฑ็˜กใฏใ€็šฎ่†šใƒป็ฒ˜่†œใซ็—…ๅค‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž้–“ใฎๆŽฅ็€ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœ็”Ÿใ˜ใ‚‹ๆฃ˜่ž่งฃ๏ผˆacantholysis๏ผ‰ใซใ‚ˆใ‚‹่กจ็šฎๅ†…ๆฐด็–ฑๅฝขๆˆใ‚’่ชใ‚ใ€ๅ…็–ซ็—…็†ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž่†œ่กจ้ขใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็šฎ่†š็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏๅพช็’ฐ่ก€ไธญใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๅคฉ็–ฑ็˜กๆŠ—ๅŽŸ่›‹็™ฝใฏใ€่กจ็šฎ็ดฐ่ƒž้–“ๆŽฅ็€ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆŒใคใ‚ซใƒ‰ใƒ˜ใƒชใƒณๅž‹็ดฐ่ƒž้–“ๆŽฅ็€ๅ› ๅญใ€ใƒ‡ใ‚นใƒขใ‚ฐใƒฌใ‚คใƒณใงใ‚ใ‚‹ใ€‚ใ€€ๅคฉ็–ฑ็˜กใฏใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใ€ใใฎไป–ใฎ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใใฎไป–ใจใ—ใฆใ€่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜กใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜กใ€็–ฑ็–น็Šถๅคฉ็–ฑ็˜กใ€่–ฌๅ‰ค่ช˜็™บๆ€งๅคฉ็–ฑ็˜กใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200228 - + + 35 + ๅคฉ็–ฑ็˜กใฏใ€็šฎ่†šใƒป็ฒ˜่†œใซ็—…ๅค‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž้–“ใฎๆŽฅ็€ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœ็”Ÿใ˜ใ‚‹ๆฃ˜่ž่งฃ๏ผˆacantholysis๏ผ‰ใซใ‚ˆใ‚‹่กจ็šฎๅ†…ๆฐด็–ฑๅฝขๆˆใ‚’่ชใ‚ใ€ๅ…็–ซ็—…็†ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž่†œ่กจ้ขใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็šฎ่†š็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏๅพช็’ฐ่ก€ไธญใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๅคฉ็–ฑ็˜กๆŠ—ๅŽŸ่›‹็™ฝใฏใ€่กจ็šฎ็ดฐ่ƒž้–“ๆŽฅ็€ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆŒใคใ‚ซใƒ‰ใƒ˜ใƒชใƒณๅž‹็ดฐ่ƒž้–“ๆŽฅ็€ๅ› ๅญใ€ใƒ‡ใ‚นใƒขใ‚ฐใƒฌใ‚คใƒณใงใ‚ใ‚‹ใ€‚ใ€€ๅคฉ็–ฑ็˜กใฏใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใ€ใใฎไป–ใฎ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใใฎไป–ใจใ—ใฆใ€่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜กใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜กใ€็–ฑ็–น็Šถๅคฉ็–ฑ็˜กใ€่–ฌๅ‰ค่ช˜็™บๆ€งๅคฉ็–ฑ็˜กใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200228 + Pemphigus + ใฆใ‚“ใฝใ†ใใ† ๅคฉ็–ฑ็˜ก - - + + ๅคฉ็–ฑ็˜ก - - 35 - 1200229 - - ๅคฉ็–ฑ็˜ก๏ผˆๅฐ‹ๅธธๆ€ง๏ผ‰ + + 35 + NANDO:1200229 + + Pemphigus vulgaris + ใ˜ใ‚“ใ˜ใ‚‡ใ†ใ›ใ„ใฆใ‚“ใฝใ†ใใ† + ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜ก + - - - - - 35 - 1200230 - - pemphigus foliaceus - ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰ + + + ๅคฉ็–ฑ็˜ก๏ผˆๅฐ‹ๅธธๆ€ง๏ผ‰ + + ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜ก + + + 35 + NANDO:1200230 + + Pemphigus foliaceus + ใ‚‰ใใ‚ˆใ†ใ˜ใ‚‡ใ†ใฆใ‚“ใฝใ†ใใ† + ่ฝ่‘‰็Šถๅคฉ็–ฑ็˜ก - - + + + ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰ - ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰ + ่ฝ่‘‰็Šถๅคฉ็–ฑ็˜ก - - 35 - 1200231 - + + 35 + NANDO:1200231 + Paraneoplastic pemphigus - ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰ + ใ—ใ‚…ใ‚ˆใ†ใšใ„ใฏใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ† + ่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜ก - - + + + ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰ - ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰ - - - 35 - 1200232 - - pemphigus vegetans - ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰ + ่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜ก + + + 35 + NANDO:1200232 + + Pemphigus vegetans + ใžใ†ใ—ใ‚‡ใใ›ใ„ใฆใ‚“ใฝใ†ใใ† + ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜ก - - + + + ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰ - ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰ + ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜ก - - 35 - 1200233 - + + 35 + NANDO:1200233 + Pemphigus erythematosus - ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰ + ใ“ใ†ใฏใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ† + ็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜ก - - + + + Senear-Usher syndrome + ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰ - ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰ + ็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜ก - - 36 - ่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ไธปใจใ—ใฆๅ…ˆๅคฉ็š„็ด ๅ› ใซใ‚ˆใ‚Šใ€ๆ—ฅๅธธ็”Ÿๆดปใงๅค–ๅŠ›ใฎๅŠ ใ‚ใ‚‹้ƒจไฝใซๆฐด็–ฑใŒๅๅพฉใ—ใฆ็”Ÿใšใ‚‹ใ“ใจใ‚’ไธปใช่‡จๅบŠ็—‡็Šถใจใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€้บไผๅฝขๅผใ€่‡จๅบŠ็—‡็Šถไธฆใณใซ้›ป้ก•ๆ‰€่ฆ‹ใซๅŸบใฅใ30ไปฅไธŠใฎไบœๅž‹ใซ็ดฐๅˆ†ใ•ใ‚Œใ‚‹ใŒใ€ๅ„ไบœๅž‹้–“ใซๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใ‚’ใพใจใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€๏ผ—ๅž‹ใ€๏ผ”ๅž‹ๅˆใฏ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ใ“ใ‚Œใ‚‰ใฎๅˆ†้กžๆณ•ใฎใ†ใกใ€๏ผ•ๅคง็—…ๅž‹ใ€ใ™ใชใ‚ใกใ€โ‘ ๅ˜็ด”ๅž‹ใ€โ‘กๆŽฅๅˆ้ƒจๅž‹ใ€โ‘ขๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹โ‘ฃๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€ๅŠใณโ‘คใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พคใซๅˆ†ใ‘ใ‚‹ๆ–นๆณ•ใŒๆœ€ๆ–ฐใฎๅˆ†้กžใงใ‚ใ‚‹ใ€‚ - 1200234 - + + 36 + ่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ไธปใจใ—ใฆๅ…ˆๅคฉ็š„็ด ๅ› ใซใ‚ˆใ‚Šใ€ๆ—ฅๅธธ็”Ÿๆดปใงๅค–ๅŠ›ใฎๅŠ ใ‚ใ‚‹้ƒจไฝใซๆฐด็–ฑใŒๅๅพฉใ—ใฆ็”Ÿใšใ‚‹ใ“ใจใ‚’ไธปใช่‡จๅบŠ็—‡็Šถใจใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€้บไผๅฝขๅผใ€่‡จๅบŠ็—‡็Šถไธฆใณใซ้›ป้ก•ๆ‰€่ฆ‹ใซๅŸบใฅใ30ไปฅไธŠใฎไบœๅž‹ใซ็ดฐๅˆ†ใ•ใ‚Œใ‚‹ใŒใ€ๅ„ไบœๅž‹้–“ใซๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใ‚’ใพใจใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€๏ผ—ๅž‹ใ€๏ผ”ๅž‹ๅˆใฏ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ใ“ใ‚Œใ‚‰ใฎๅˆ†้กžๆณ•ใฎใ†ใกใ€๏ผ•ๅคง็—…ๅž‹ใ€ใ™ใชใ‚ใกใ€โ‘ ๅ˜็ด”ๅž‹ใ€โ‘กๆŽฅๅˆ้ƒจๅž‹ใ€โ‘ขๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹โ‘ฃๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€ๅŠใณโ‘คใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พคใซๅˆ†ใ‘ใ‚‹ๆ–นๆณ•ใŒๆœ€ๆ–ฐใฎๅˆ†้กžใงใ‚ใ‚‹ใ€‚ + NANDO:1200234 + Epidermolysis bullosa + ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† ่กจ็šฎๆฐด็–ฑ็—‡ + + - - + + ่กจ็šฎๆฐด็–ฑ็—‡ - - 36 - 1200235 - + + 36 + NANDO:1200235 + Epidermolysis bullosa simplex - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰ + ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + - - + + + EBS + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰ - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰ + ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ - - 36 - 1200236 - + + 36 + NANDO:1200236 + Junctional epidermolysis bullosa - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰ + ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + - - + + + JEB + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰ - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰ + ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡ - - 36 - 1200237 - + + 36 + NANDO:1200237 + Dominant dystrophic epidermolysis bullosa - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰ - + ใ‚†ใ†ใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + - - - - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰ - - - 36 - 1200238 - + + + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰ + ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 36 + NANDO:1200238 + Recessive dystrophic epidermolysis bullosa - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰ + ใ‚Œใฃใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ - - + + + RDEB + Recessive DEB + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰ - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰ + ๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ - - 36 - 1200239 - + + 36 + NANDO:1200239 + Kindler syndrome - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ + ใใ‚“ใฉใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค - - + + + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ - ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ - - - 37 - ไนพ็™ฌใซใฏใ€ๆœ€ใ‚‚็™บ็—‡้ ปๅบฆใฎ้ซ˜ใ„ๅฐ‹ๅธธๆ€งไนพ็™ฌใฎไป–ใซไบœๅž‹ใจใ—ใฆใ€ไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผˆ้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ๏ผ‰ใ€ไนพ็™ฌๆ€ง็ด…็šฎ็—‡ใ€่†ฟ็–ฑๆ€งไนพ็™ฌใŒใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎ่†ฟ็–ฑๆ€งไนพ็™ฌใซใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้™ๅฑ€ๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆŽŒ่น ่†ฟ็–ฑ็—‡ใ€ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž๏ผ‰ใŒใ‚ใ‚Šใ€ๆœฌ็จฟใงๅ–ใ‚Šๆ‰ฑใ†ใฎใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใซใฏๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆvon Zumbuschๅž‹๏ผ‰ใ€ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใ€็–ฑ็–นๆ€ง่†ฟ็—‚็–นใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚von Zumbuschๅž‹ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎไป–ใฎๅž‹ใงใฏใ€ๅ…จ่บซ็—‡็Šถใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใง็ด…ๆ–‘ใจ่†ฟ็–ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ใ€€็ตŒ้Žไธญใซใ€ๅ…จ่บซ็‚Ž็—‡ๅๅฟœใซไผดใฃใฆ่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ๅฟƒใƒปๅพช็’ฐๅ™จไธๅ…จใ€ๅ‘ผๅธๅ™จไธๅ…จใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€่†ฟ็–ฑๅž‹่–ฌ็–น๏ผˆๆ€ฅๆ€งๆฑŽ็™บๆ€ง็™บ็–นๆ€ง่†ฟ็–ฑ็—‡๏ผˆacute generalized exanthematous pustulosis๏ผšAGEP๏ผ‰ใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ‚„่ง’ๅฑคไธ‹่†ฟ็–ฑ็—‡ใŒใ‚ใ‚‹ใ€‚ - 1200240 - - Pustular Psoriasis + ใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค + + + 37 + ไนพ็™ฌใซใฏใ€ๆœ€ใ‚‚็™บ็—‡้ ปๅบฆใฎ้ซ˜ใ„ๅฐ‹ๅธธๆ€งไนพ็™ฌใฎไป–ใซไบœๅž‹ใจใ—ใฆใ€ไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผˆ้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ๏ผ‰ใ€ไนพ็™ฌๆ€ง็ด…็šฎ็—‡ใ€่†ฟ็–ฑๆ€งไนพ็™ฌใŒใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎ่†ฟ็–ฑๆ€งไนพ็™ฌใซใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้™ๅฑ€ๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆŽŒ่น ่†ฟ็–ฑ็—‡ใ€ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž๏ผ‰ใŒใ‚ใ‚Šใ€ๆœฌ็จฟใงๅ–ใ‚Šๆ‰ฑใ†ใฎใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใซใฏๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆvon Zumbuschๅž‹๏ผ‰ใ€ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใ€็–ฑ็–นๆ€ง่†ฟ็—‚็–นใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚von Zumbuschๅž‹ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎไป–ใฎๅž‹ใงใฏใ€ๅ…จ่บซ็—‡็Šถใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใง็ด…ๆ–‘ใจ่†ฟ็–ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ใ€€็ตŒ้Žไธญใซใ€ๅ…จ่บซ็‚Ž็—‡ๅๅฟœใซไผดใฃใฆ่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ๅฟƒใƒปๅพช็’ฐๅ™จไธๅ…จใ€ๅ‘ผๅธๅ™จไธๅ…จใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€่†ฟ็–ฑๅž‹่–ฌ็–น๏ผˆๆ€ฅๆ€งๆฑŽ็™บๆ€ง็™บ็–นๆ€ง่†ฟ็–ฑ็—‡๏ผˆacute generalized exanthematous pustulosis๏ผšAGEP๏ผ‰ใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ‚„่ง’ๅฑคไธ‹่†ฟ็–ฑ็—‡ใŒใ‚ใ‚‹ใ€‚ + NANDO:1200240 + + Pustular psoriasis + ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰ ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ - + + - - Generalized Pustular Psoriasis - + + GPP + Generalized pustular psoriasis ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ - - 37 - 1200241 - - Acuteย generalized pustular psoriasis + + 37 + NANDO:1200241 + + Acute generalized pustular psoriasis + ใใ‚…ใ†ใ›ใ„ใฏใ‚“ใฑใคใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ - - - Acuteย generalized pustular psoriasis,ย von Zumbuschย type - von Zumbusch ๅž‹ + + + AGEP + Acute generalized pustular psoriasis, von Zumbusch type + von Zumbuschๅž‹ + ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ - - 37 - 1200242 - - Infantile generalized pustular psoriasis + + 37 + NANDO:1200242 + + Childhood generalized pustular psoriasis + ใ—ใ‚‡ใ†ใซใฏใ‚“ใฑใคใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ - + + ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ - - 37 - 1200243 - - Impetigo Herpesformis + + 37 + NANDO:1200243 + + Impetigo herpetiformis + ใปใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฎใ†ใ‹ใ—ใ‚“ ็–ฑ็–น็Šถ่†ฟ็—‚็–น - - + + + ็–ฑ็–น็Šถ่†ฟ็—‚็–น - - 37 - 1200244 - - Acrodermatitis Continua of Hallopeau + + 37 + NANDO:1200244 + + Acrodermatitis continua of Hallopeau + ใ‘ใ„ใ‚Šใ‚…ใ†ใ›ใ„ใ—ใŸใ‚“ใฒใตใˆใ‚“ใฎใฏใ‚“ใฑใคใ‹ ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ– - - Generalized Acrodermatitis Continua of Hallopeau + + Generalized acrodermatitis continua of Hallopeau + ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ– + ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽๆฑŽ็™บๅž‹ ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ– - - 38 - ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJSใ€็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใ€ๆฐด็–ฑใŒๅคš็™บใ—ใ€่กจ็šฎใฎๅฃŠๆญปๆ€ง้šœๅฎณใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200245 - + + 38 + ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJSใ€็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใ€ๆฐด็–ฑใŒๅคš็™บใ—ใ€่กจ็šฎใฎๅฃŠๆญปๆ€ง้šœๅฎณใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200245 + Stevens-Johnson syndrome + ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค + - - + + + SJS + ็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค - - 39 - ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆToxic epidermal necrolysis๏ผšTEN๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใŒๅบƒ็ฏ„ๅ›ฒใซๅ‡บ็พใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TENใฏใ€ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJS๏ผ‰ใ‹ใ‚‰้€ฒๅฑ•ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ - 1200246 - + + 39 + ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆToxic epidermal necrolysis๏ผšTEN๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใŒๅบƒ็ฏ„ๅ›ฒใซๅ‡บ็พใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TENใฏใ€ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJS๏ผ‰ใ‹ใ‚‰้€ฒๅฑ•ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ + NANDO:1200246 + Toxic epidermal necrolysis + ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ† ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ + - - + + + TEN ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ - - 39 - 1200247 - - toxic epidermal necrolysis with spots + + 39 + NANDO:1200247 + + Toxic epidermal necrolysis with spots + ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใˆใ™ใ˜ใ‡ใ„ใˆใ™ใ—ใ‚“ใฆใ‚“ใŒใŸ๏ผ‰ ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰ - - - TEN without maclues + + + TEN with macules ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰ - - 39 - 1200248 - - toxic epidermal necrolysis without spots + + 39 + NANDO:1200248 + + Toxic epidermal necrolysis without spots + ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใณใพใ‚“ใ›ใ„ใ“ใ†ใฏใ‚“ใ—ใ‚“ใฆใ‚“ใŒใŸ๏ผ‰ ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰ - - - TEN on large erythema + + + TEN on large erythema + ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰ - - 39 - 1200249 - + + 39 + NANDO:1200249 + + Toxic epidermal necrolysis (particular form) + ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใจใใ—ใ‚…ใŒใŸ๏ผ‰ ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰ - - - - - 39 - 1200250 - + + + + ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰ + + + 39 + NANDO:1200250 + + Toxic epidermal necrolysis (abortive form) + ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใตใœใ‚“ใŒใŸ๏ผ‰ ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰ - - - - - 40 - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใฏๅคงๅ‹•่„ˆๅŠใณใใฎไธป่ฆๅˆ†ๆžใ‚„่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‚Ž็—‡ๆ€งๅฃ่‚ฅๅŽšใ‚’ใใŸใ—ใ€ใพใŸใใฎ็ตๆžœใจใ—ใฆ็‹ญ็ช„ใ€้–‰ๅกžใพใŸใฏๆ‹กๅผต็—…ๅค‰ใ‚’ๆฅใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐ็š„ๅคงๅž‹่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใพใŸใฏ้–‰ๅกžใ‚’ๆฅใ—ใŸๅ‹•่„ˆใฎๆ”ฏ้…่‡“ๅ™จใซ็‰นๆœ‰ใฎ่™š่ก€้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏ้€†ใซๆ‹กๅผต็—…ๅค‰ใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใŒใใฎ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ็”Ÿใ˜ใŸ่ก€็ฎก้ ˜ๅŸŸใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่บซใฎ่ซธ่‡“ๅ™จใซๅคšๅฝฉใช็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใง้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค๏ผ‰ใจใ•ใ‚Œใฆใ„ใŸใŒๅ›ฝ้š›ๅˆ†้กžใซๆฒฟใฃใฆใ€้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจ็ตฑไธ€ใ—ใŸใ€‚ใพใŸใ€ๆฉˆ้ชจๅ‹•่„ˆ่„ˆๆ‹ใฎๆถˆๅคฑใŒใ‚ˆใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€่„ˆ็„กใ—็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅใฏใ€1908ๅนดใซๆœฌ็–พๆ‚ฃใ‚’็™บ่ฆ‹ใ—ใŸ้‡‘ๆฒขๅคงๅญฆ็œผ็ง‘ใฎ้ซ˜ๅฎ‰ๅณไบบๅšๅฃซใฎๅใซ็”ฑๆฅใ™ใ‚‹ใ€‚ - 1200251 - - Takayasu's Arteritis + + + + ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰ + + + 40 + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใฏๅคงๅ‹•่„ˆๅŠใณใใฎไธป่ฆๅˆ†ๆžใ‚„่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‚Ž็—‡ๆ€งๅฃ่‚ฅๅŽšใ‚’ใใŸใ—ใ€ใพใŸใใฎ็ตๆžœใจใ—ใฆ็‹ญ็ช„ใ€้–‰ๅกžใพใŸใฏๆ‹กๅผต็—…ๅค‰ใ‚’ๆฅใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐ็š„ๅคงๅž‹่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใพใŸใฏ้–‰ๅกžใ‚’ๆฅใ—ใŸๅ‹•่„ˆใฎๆ”ฏ้…่‡“ๅ™จใซ็‰นๆœ‰ใฎ่™š่ก€้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏ้€†ใซๆ‹กๅผต็—…ๅค‰ใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใŒใใฎ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ็”Ÿใ˜ใŸ่ก€็ฎก้ ˜ๅŸŸใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่บซใฎ่ซธ่‡“ๅ™จใซๅคšๅฝฉใช็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใง้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค๏ผ‰ใจใ•ใ‚Œใฆใ„ใŸใŒๅ›ฝ้š›ๅˆ†้กžใซๆฒฟใฃใฆใ€้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจ็ตฑไธ€ใ—ใŸใ€‚ใพใŸใ€ๆฉˆ้ชจๅ‹•่„ˆ่„ˆๆ‹ใฎๆถˆๅคฑใŒใ‚ˆใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€่„ˆ็„กใ—็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅใฏใ€1908ๅนดใซๆœฌ็–พๆ‚ฃใ‚’็™บ่ฆ‹ใ—ใŸ้‡‘ๆฒขๅคงๅญฆ็œผ็ง‘ใฎ้ซ˜ๅฎ‰ๅณไบบๅšๅฃซใฎๅใซ็”ฑๆฅใ™ใ‚‹ใ€‚ + NANDO:1200251 + + Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“ ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + - - + + Aortitis syndrome - Takayasu arteritis + Takayasu's arteritis ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž - - 40 - 1200252 - + + 40 + NANDO:1200252 + Type I Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ1ใŒใŸ๏ผ‰ ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰ + - - + + + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰ - - 40 - 1200253 - - Type โ…กa Takayasu arteritis - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กaๅž‹๏ผ‰ + + 40 + NANDO:1200253 + + Type II a Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ2ใˆใƒผใŒใŸ๏ผ‰ + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIaๅž‹๏ผ‰ + - - - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กaๅž‹๏ผ‰ - - - 40 - 1200254 - - Type โ…กb Takayasu arteritis - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กbๅž‹๏ผ‰ + + + + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIaๅž‹๏ผ‰ + + + 40 + NANDO:1200254 + + Type II b Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ2ใณใƒผใŒใŸ๏ผ‰ + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIbๅž‹๏ผ‰ + - - - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กbๅž‹๏ผ‰ - - - 40 - 1200255 - - Type โ…ข Takayasu arteritis - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ขๅž‹๏ผ‰ + + + + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIbๅž‹๏ผ‰ + + + 40 + NANDO:1200255 + + Type III Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ3ใŒใŸ๏ผ‰ + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIIๅž‹๏ผ‰ + - - - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ขๅž‹๏ผ‰ - - - 40 - 1200256 - - Type โ…ฃ Takayasu arteritis - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ฃๅž‹๏ผ‰ + + + + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIIๅž‹๏ผ‰ + + + 40 + NANDO:1200256 + + Type IV Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ4ใŒใŸ๏ผ‰ + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIVๅž‹๏ผ‰ + - - - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ฃๅž‹๏ผ‰ - - - 40 - 1200257 - - Type โ…ค Takayasu arteritis - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…คๅž‹๏ผ‰ + + + + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIVๅž‹๏ผ‰ + + + 40 + NANDO:1200257 + + Type V Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ5ใŒใŸ๏ผ‰ + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆVๅž‹๏ผ‰ + - - - ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…คๅž‹๏ผ‰ - - - 41 - ๅคงๅž‹ใƒปไธญๅž‹ใฎๅ‹•่„ˆใซๅทจ็ดฐ่ƒžใ‚’ไผดใ†่‚‰่Šฝ่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ๅ‹•่„ˆ็‚Žใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžใ€็‰นใซๅค–้ šๅ‹•่„ˆใ‚’้ซ˜ใ„้ ปๅบฆใงๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅด้ ญๅ‹•่„ˆใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ไปฅๅ‰ใฏใ€Œๅด้ ญๅ‹•่„ˆ็‚Žใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€็พๅœจใฏใ€Œๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Žใ€ใจใใฎๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚50ๆญณไปฅไธŠใฎ้ซ˜้ฝข่€…ใซ็™บ็—‡ใ—ใ€่‹ฅๅนด่€…ใซ็™บ็—‡ใ™ใ‚‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅฏพ็…ง็š„ใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ’๏ฝž๏ผ“ใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใƒชใ‚ฆใƒžใƒๆ€งๅคš็™บ็ญ‹็—›็—‡ใ‚’ไผดใ„ใ€ๅพŒ่ฟฐใ™ใ‚‹ใ‚ˆใ†ใซไธก่€…ใฏๆฅตใ‚ใฆ่ฟ‘ไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅœฐ็†็š„ใชๅใ‚ŠๅŠใณ้บไผ็ด ๅ› ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ๆฌง็ฑณ็™ฝไบบใซๅคšใใ€ๆ—ฅๆœฌใ‚’ๅซใ‚ใ‚ขใ‚ธใ‚ขไบบใซใฏๅฐ‘ใชใ„ใ€‚ - 1200258 - + + + + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆVๅž‹๏ผ‰ + + + 41 + ๅคงๅž‹ใƒปไธญๅž‹ใฎๅ‹•่„ˆใซๅทจ็ดฐ่ƒžใ‚’ไผดใ†่‚‰่Šฝ่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ๅ‹•่„ˆ็‚Žใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžใ€็‰นใซๅค–้ šๅ‹•่„ˆใ‚’้ซ˜ใ„้ ปๅบฆใงๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅด้ ญๅ‹•่„ˆใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ไปฅๅ‰ใฏใ€Œๅด้ ญๅ‹•่„ˆ็‚Žใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€็พๅœจใฏใ€Œๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Žใ€ใจใใฎๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚50ๆญณไปฅไธŠใฎ้ซ˜้ฝข่€…ใซ็™บ็—‡ใ—ใ€่‹ฅๅนด่€…ใซ็™บ็—‡ใ™ใ‚‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅฏพ็…ง็š„ใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ’๏ฝž๏ผ“ใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใƒชใ‚ฆใƒžใƒๆ€งๅคš็™บ็ญ‹็—›็—‡ใ‚’ไผดใ„ใ€ๅพŒ่ฟฐใ™ใ‚‹ใ‚ˆใ†ใซไธก่€…ใฏๆฅตใ‚ใฆ่ฟ‘ไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅœฐ็†็š„ใชๅใ‚ŠๅŠใณ้บไผ็ด ๅ› ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ๆฌง็ฑณ็™ฝไบบใซๅคšใใ€ๆ—ฅๆœฌใ‚’ๅซใ‚ใ‚ขใ‚ธใ‚ขไบบใซใฏๅฐ‘ใชใ„ใ€‚ + NANDO:1200258 + Giant cell arteritis + ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“ ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž - - + + + GCA ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž - - 41 - 1200259 - - ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใจใ‚™ใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰ + + 41 + NANDO:1200259 + + Cranial giant cell arteritis + ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆใใใจใ†ใฉใ†ใฟใ‚ƒใใƒปใŒใใฉใ†ใฟใ‚ƒใใƒปใŒใ‚“ใฉใ†ใฟใ‚ƒใใชใฉใฎใšใŒใ„ใ‚Šใ‚‡ใ†ใ„ใใฎใฉใ†ใฟใ‚ƒใใซใ’ใ‚“ใใ‚‡ใ๏ผ‰ + ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใฉใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰ + - - - - - 41 - 1200260 - - ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใ™ใ‚™ๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใจใ‚™ใซใ‚‚ๅˆ†ๅธƒ๏ผ‰ + + + cranial GCA + ๅด้ ญๅ‹•่„ˆ็‚Ž + + ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใฉใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰ + + + 41 + NANDO:1200260 + + Large-vessel giant cell arteritis + ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆใšใŒใ„ใ‚Šใ‚‡ใ†ใ„ใใฎใฉใ†ใฟใ‚ƒใใซใ’ใ‚“ใใ‚‡ใใ›ใšใ ใ„ใฉใ†ใฟใ‚ƒใใƒปใใ†ใ‘ใ„ใฉใ†ใฟใ‚ƒใใƒปใ•ใ“ใคใ‹ใฉใ†ใฟใ‚ƒใใชใฉใซใ‚‚ใถใ‚“ใท๏ผ‰ + ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใšๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใฉใซใ‚‚ๅˆ†ๅธƒ๏ผ‰ + - - - - - 42 - ๅ‹•่„ˆใฏ่ก€็ฎกๅพ„ใซใ‚ˆใ‚Šใ€ๅคงๅž‹ใ€ไธญๅž‹ใ€ๅฐๅž‹ใ€ๆฏ›็ดฐ่ก€็ฎกใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใฏใ€ไธญๅž‹่ก€็ฎกใ‚’ไธปไฝ“ใจใ—ใฆใ€่ก€็ฎกๅฃใซ็‚Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰ใฏไธ€ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใŸ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใฏใ€ๆฏ›็ดฐ่ก€็ฎกใ‚’ไธปไฝ“ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฏใ€็•ฐใชใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใ‚‚่ก€ๆธ…ไธญใซใฏๆคœๅ‡บใ•ใ‚Œใšใ€็พๆ™‚็‚นใงใฏใ€ใ“ใฎ็–พๆ‚ฃใซๅฏพใ™ใ‚‹็‰น็•ฐๆ€งใฎ้ซ˜ใ„่จบๆ–ญใƒžใƒผใ‚ซใƒผใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใƒ•ใƒฉใƒณใ‚นใชใฉใงใฏใ€Bๅž‹่‚็‚Žใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซไผดใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒ็›ธๅฝ“ๆ•ฐๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏใพใ‚Œใซใ—ใ‹่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚PANใฏMPAใซๆฏ”่ผƒใ—ใฆ่‹ฅๅนฒ่‹ฅใ„ๅนด้ฝขๅฑคใซๅคšใใ€ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ55ๆญณใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ“๏ผš๏ผ‘ใงใ‚„ใ‚„็”ทๆ€งใซๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ - 1200261 - + + + LV-GCA + + ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใšๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใฉใซใ‚‚ๅˆ†ๅธƒ๏ผ‰ + + + 42 + ๅ‹•่„ˆใฏ่ก€็ฎกๅพ„ใซใ‚ˆใ‚Šใ€ๅคงๅž‹ใ€ไธญๅž‹ใ€ๅฐๅž‹ใ€ๆฏ›็ดฐ่ก€็ฎกใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใฏใ€ไธญๅž‹่ก€็ฎกใ‚’ไธปไฝ“ใจใ—ใฆใ€่ก€็ฎกๅฃใซ็‚Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰ใฏไธ€ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใŸ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใฏใ€ๆฏ›็ดฐ่ก€็ฎกใ‚’ไธปไฝ“ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฏใ€็•ฐใชใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใ‚‚่ก€ๆธ…ไธญใซใฏๆคœๅ‡บใ•ใ‚Œใšใ€็พๆ™‚็‚นใงใฏใ€ใ“ใฎ็–พๆ‚ฃใซๅฏพใ™ใ‚‹็‰น็•ฐๆ€งใฎ้ซ˜ใ„่จบๆ–ญใƒžใƒผใ‚ซใƒผใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใƒ•ใƒฉใƒณใ‚นใชใฉใงใฏใ€Bๅž‹่‚็‚Žใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซไผดใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒ็›ธๅฝ“ๆ•ฐๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏใพใ‚Œใซใ—ใ‹่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚PANใฏMPAใซๆฏ”่ผƒใ—ใฆ่‹ฅๅนฒ่‹ฅใ„ๅนด้ฝขๅฑคใซๅคšใใ€ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ55ๆญณใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ“๏ผš๏ผ‘ใงใ‚„ใ‚„็”ทๆ€งใซๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ + NANDO:1200261 + Polyarteritis nodosa + ใ‘ใฃใ›ใคใ›ใ„ใŸใฏใคใฉใ†ใฟใ‚ƒใใˆใ‚“ ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž - - + + + PAN + Periarteritis nodosa + ็ต็ฏ€ๆ€งๅ‹•่„ˆๅ‘จๅ›ฒ็‚Ž ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž - - 43 - 1994ๅนดใซChapel Hillใง้–‹ใ‹ใ‚ŒใŸๅ›ฝ้š›ไผš่ญฐใซใŠใ„ใฆใ€ใ“ใ‚Œใพใง็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ไธญๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซ้™ๅฑ€ใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚ŽใฎใฟใŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใจๅฎš็พฉใ•ใ‚Œใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅฐๅ‹•ใƒป้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใฏๅˆฅใฎ็–พๆ‚ฃ็พคใจใ—ใฆๅŒบๅˆฅใ•ใ‚ŒใŸใ€‚ๅพŒ่€…ใฏใ€่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใŒใปใจใ‚“ใฉใฟใ‚‰ใ‚Œใชใ„ใ“ใจใจๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ‚’็‰นๅพดใจใ—ใ€ANCA้–ข้€ฃ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚ใ“ใฎใ†ใกใ€่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใŒ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใ‚„ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ‘ใงใ€ๅฅฝ็™บๅนด้ฝขใฏ55๏ฝž74ๆญณใจ้ซ˜้ฝข่€…ใซๅคšใ„ใ€‚ๅนด้–“็™บ็—‡็Ž‡ใฏใƒ‰ใ‚คใƒ„ใซใŠใ‘ใ‚‹๏ผ“ไบบ/็™พไธ‡ไบบใ‹ใ‚‰่‹ฑๅ›ฝใซใŠใ‘ใ‚‹8.4ไบบ/็™พไธ‡ไบบใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200262 - + + 43 + 1994ๅนดใซChapel Hillใง้–‹ใ‹ใ‚ŒใŸๅ›ฝ้š›ไผš่ญฐใซใŠใ„ใฆใ€ใ“ใ‚Œใพใง็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ไธญๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซ้™ๅฑ€ใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚ŽใฎใฟใŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใจๅฎš็พฉใ•ใ‚Œใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅฐๅ‹•ใƒป้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใฏๅˆฅใฎ็–พๆ‚ฃ็พคใจใ—ใฆๅŒบๅˆฅใ•ใ‚ŒใŸใ€‚ๅพŒ่€…ใฏใ€่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใŒใปใจใ‚“ใฉใฟใ‚‰ใ‚Œใชใ„ใ“ใจใจๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ‚’็‰นๅพดใจใ—ใ€ANCA้–ข้€ฃ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚ใ“ใฎใ†ใกใ€่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใŒ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใ‚„ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ‘ใงใ€ๅฅฝ็™บๅนด้ฝขใฏ55๏ฝž74ๆญณใจ้ซ˜้ฝข่€…ใซๅคšใ„ใ€‚ๅนด้–“็™บ็—‡็Ž‡ใฏใƒ‰ใ‚คใƒ„ใซใŠใ‘ใ‚‹๏ผ“ไบบ/็™พไธ‡ไบบใ‹ใ‚‰่‹ฑๅ›ฝใซใŠใ‘ใ‚‹8.4ไบบ/็™พไธ‡ไบบใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200262 + Microscopic polyangiitis + ใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž + - - + + + MPA ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž - - 44 - ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏใ€ไปฅๅ‰ใฏใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡ใจ็งฐใ•ใ‚Œใฆใ„ใŸ็–พๆ‚ฃใงใ€็—…็†็ต„็น”ๅญฆ็š„ใซ(๏ผ‘)ๅ…จ่บซใฎๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žใ€(๏ผ’)ไธŠๆฐ—้“ใจ่‚บใ‚’ไธปใจใ™ใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง็‚Žใ€(๏ผ“)ๅŠๆœˆไฝ“ๅฝขๆˆ่…Ž็‚Žใ‚’ๅ‘ˆใ—ใ€ใใฎ็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰)ใŒ้–ขไธŽใ™ใ‚‹่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ…ƒๆฅ็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹ใ€‚ๆ—ฉๆœŸ็ขบๅฎš่จบๆ–ญใซANCAใฎๆธฌๅฎšใฏๆฅตใ‚ใฆๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ANCAใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใฏใ€ๆฌง็ฑณใงใฏใ€ใปใจใ‚“ใฉใŒใƒ—ใƒญใƒ†ใ‚คใƒใƒผใ‚น๏ผ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆPR3-ANCA๏ผ‰ใงใ‚ใ‚‹ใŒใ€ใ‚ใŒๅ›ฝใงใฏใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„ๅŠๆ•ฐใ‚’ๅ ใ‚ใ‚‹ใ€‚ - 1200263 - - Granulomatosis with Polyangiitis + + 44 + ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏใ€ไปฅๅ‰ใฏใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡ใจ็งฐใ•ใ‚Œใฆใ„ใŸ็–พๆ‚ฃใงใ€็—…็†็ต„็น”ๅญฆ็š„ใซ(๏ผ‘)ๅ…จ่บซใฎๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žใ€(๏ผ’)ไธŠๆฐ—้“ใจ่‚บใ‚’ไธปใจใ™ใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง็‚Žใ€(๏ผ“)ๅŠๆœˆไฝ“ๅฝขๆˆ่…Ž็‚Žใ‚’ๅ‘ˆใ—ใ€ใใฎ็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰)ใŒ้–ขไธŽใ™ใ‚‹่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ…ƒๆฅ็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹ใ€‚ๆ—ฉๆœŸ็ขบๅฎš่จบๆ–ญใซANCAใฎๆธฌๅฎšใฏๆฅตใ‚ใฆๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ANCAใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใฏใ€ๆฌง็ฑณใงใฏใ€ใปใจใ‚“ใฉใŒใƒ—ใƒญใƒ†ใ‚คใƒใƒผใ‚น๏ผ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆPR3-ANCA๏ผ‰ใงใ‚ใ‚‹ใŒใ€ใ‚ใŒๅ›ฝใงใฏใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„ๅŠๆ•ฐใ‚’ๅ ใ‚ใ‚‹ใ€‚ + NANDO:1200263 + + Granulomatosis with polyangiitis + ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ + - - + + + GPA Wegeners granulomatosis + ใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡ ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ - - 45 - ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆeosinophilic granulomatosis with polyangiitis๏ผšEGPA๏ผ‰ใฏใ€ๅพ“ๆฅใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผˆallergic granulomatous angiitis๏ผšAGA๏ผ‰ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค๏ผˆChurg Strauss syndrome๏ผšCSS๏ผ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ€2012ๅนดใฎๅ›ฝ้š›ไผš่ญฐใงๅ็งฐๅค‰ๆ›ดใŒใชใ•ใ‚ŒใŸใ€‚ๆ—ฅๆœฌ่ชžๅใ‚‚ใ€ใ“ใ‚Œใซๅ‘ผๅฟœใ—ใฆๆคœ่จŽใ•ใ‚Œใ€่กจ่จ˜ใฎใ‚ˆใ†ใซๅฎšใ‚ใ‚‰ใ‚ŒใŸใ€‚ใ€€่‡จๅบŠ็š„็‰นๅพดใฏใ€ๅ…ˆ่กŒ็—‡็Šถใจใ—ใฆๆฐ—็ฎกๆ”ฏ็‚Žๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒใฟใ‚‰ใ‚Œใ€ๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ่ก€็ฎก็‚Žใ‚’็”Ÿใ˜ใ€ๆœซๆขข็ฅž็ตŒ็‚Žใ€็ดซๆ–‘ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜ใ€่„ณๆข—ๅกžใƒป่„ณๅ‡บ่ก€ใƒปๅฟƒ็ญ‹ๆข—ๅกžใƒปๅฟƒๅค–่†œ็‚Žใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚30๏ฝž60ๆญณใฎๅฅณๆ€งใซๅฅฝ็™บใ—ใ€็”ท๏ผšๅฅณ๏ผ๏ผ”๏ผš๏ผ–ใงใ‚„ใ‚„ๅฅณๆ€งใซๅคšใ„ใ€‚ใ€€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๅนด้–“ๆ–ฐ่ฆๆ‚ฃ่€…ๆ•ฐใฏใ€็ด„100ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅนด้–“ใฎๅŒป็™‚ๆ–ฝ่จญๅ—่จบ่€…ใฏใ€็ด„1,800ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ก€ไธญใฎๅฅฝ้…ธ็ƒๅข—ๅŠ ไปฅๅค–ใซใ€ๅฅฝ้…ธ็ƒๆ€ง็ต„็น”้šœๅฎณๅ› ๅญ๏ผˆECPใชใฉ๏ผ‰ใฎไธŠๆ˜‡ใ€IgE้ซ˜ๅ€คใชใฉใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„50๏ผ…ใฎ็—‡ไพ‹ใง่ก€ๆธ…ไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ใ€€็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใฏใ€็œŸ็šฎๅฐ่ก€็ฎกใ‚’ไธญๅฟƒใซๆ ธๅกตใ‚’ไผดใ„ใ€่ก€็ฎกๅ‘จๅ›ฒใฎๅฅฝไธญ็ƒใจ่‘—ๆ˜Žใชๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹็ดฐๅฐ่ก€็ฎกใฎ่‚‰่Šฝ่…ซๆ€งใ‚ใ‚‹ใ„ใฏใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚คใƒ‰ๅค‰ๆ€งใ‚’ไผดใ†ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚„็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Ž๏ผˆleukocytoclastic vasculitis๏ผ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซใ€่ก€็ฎกๅค–ใซ่‚‰่Šฝ่…ซๅฝขๆˆใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ€‚่จบๆ–ญใฏๅพŒ่ฟฐใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€(๏ผ‘)ๅ…ˆ่กŒใ™ใ‚‹ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚ใ‚‹ใ„ใฏใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใ€(๏ผ’)่ก€ไธญใฎๅฅฝ้…ธ็ƒใฎๅข—ๅŠ ใ€(๏ผ“)ๅ‰้ …ใซใ‚ใ‚‹่ก€็ฎก็‚Ž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ใ•ใ‚‰ใซ็—…็†็ต„็น”ๆ‰€่ฆ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ็ขบๅฎŸใซใชใ‚‹ใ€‚ๅ‚่€ƒๆ‰€่ฆ‹ใจใ—ใฆใ€่ก€ๆฒˆไบข้€ฒใ€่ก€ๅฐๆฟๅข—ๅŠ ใ€IgE้ซ˜ๅ€คใ€่ก€ๆธ…MPO-ANCA๏ผˆp-ANCA๏ผ‰้™ฝๆ€งใชใฉใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ - 1200264 - - Eosinophilic Granulomatosis withย Polyangiitis + + 45 + ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆeosinophilic granulomatosis with polyangiitis๏ผšEGPA๏ผ‰ใฏใ€ๅพ“ๆฅใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผˆallergic granulomatous angiitis๏ผšAGA๏ผ‰ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค๏ผˆChurg Strauss syndrome๏ผšCSS๏ผ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ€2012ๅนดใฎๅ›ฝ้š›ไผš่ญฐใงๅ็งฐๅค‰ๆ›ดใŒใชใ•ใ‚ŒใŸใ€‚ๆ—ฅๆœฌ่ชžๅใ‚‚ใ€ใ“ใ‚Œใซๅ‘ผๅฟœใ—ใฆๆคœ่จŽใ•ใ‚Œใ€่กจ่จ˜ใฎใ‚ˆใ†ใซๅฎšใ‚ใ‚‰ใ‚ŒใŸใ€‚ใ€€่‡จๅบŠ็š„็‰นๅพดใฏใ€ๅ…ˆ่กŒ็—‡็Šถใจใ—ใฆๆฐ—็ฎกๆ”ฏ็‚Žๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒใฟใ‚‰ใ‚Œใ€ๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ่ก€็ฎก็‚Žใ‚’็”Ÿใ˜ใ€ๆœซๆขข็ฅž็ตŒ็‚Žใ€็ดซๆ–‘ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜ใ€่„ณๆข—ๅกžใƒป่„ณๅ‡บ่ก€ใƒปๅฟƒ็ญ‹ๆข—ๅกžใƒปๅฟƒๅค–่†œ็‚Žใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚30๏ฝž60ๆญณใฎๅฅณๆ€งใซๅฅฝ็™บใ—ใ€็”ท๏ผšๅฅณ๏ผ๏ผ”๏ผš๏ผ–ใงใ‚„ใ‚„ๅฅณๆ€งใซๅคšใ„ใ€‚ใ€€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๅนด้–“ๆ–ฐ่ฆๆ‚ฃ่€…ๆ•ฐใฏใ€็ด„100ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅนด้–“ใฎๅŒป็™‚ๆ–ฝ่จญๅ—่จบ่€…ใฏใ€็ด„1,800ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ก€ไธญใฎๅฅฝ้…ธ็ƒๅข—ๅŠ ไปฅๅค–ใซใ€ๅฅฝ้…ธ็ƒๆ€ง็ต„็น”้šœๅฎณๅ› ๅญ๏ผˆECPใชใฉ๏ผ‰ใฎไธŠๆ˜‡ใ€IgE้ซ˜ๅ€คใชใฉใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„50๏ผ…ใฎ็—‡ไพ‹ใง่ก€ๆธ…ไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ใ€€็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใฏใ€็œŸ็šฎๅฐ่ก€็ฎกใ‚’ไธญๅฟƒใซๆ ธๅกตใ‚’ไผดใ„ใ€่ก€็ฎกๅ‘จๅ›ฒใฎๅฅฝไธญ็ƒใจ่‘—ๆ˜Žใชๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹็ดฐๅฐ่ก€็ฎกใฎ่‚‰่Šฝ่…ซๆ€งใ‚ใ‚‹ใ„ใฏใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚คใƒ‰ๅค‰ๆ€งใ‚’ไผดใ†ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚„็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Ž๏ผˆleukocytoclastic vasculitis๏ผ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซใ€่ก€็ฎกๅค–ใซ่‚‰่Šฝ่…ซๅฝขๆˆใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ€‚่จบๆ–ญใฏๅพŒ่ฟฐใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€(๏ผ‘)ๅ…ˆ่กŒใ™ใ‚‹ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚ใ‚‹ใ„ใฏใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใ€(๏ผ’)่ก€ไธญใฎๅฅฝ้…ธ็ƒใฎๅข—ๅŠ ใ€(๏ผ“)ๅ‰้ …ใซใ‚ใ‚‹่ก€็ฎก็‚Ž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ใ•ใ‚‰ใซ็—…็†็ต„็น”ๆ‰€่ฆ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ็ขบๅฎŸใซใชใ‚‹ใ€‚ๅ‚่€ƒๆ‰€่ฆ‹ใจใ—ใฆใ€่ก€ๆฒˆไบข้€ฒใ€่ก€ๅฐๆฟๅข—ๅŠ ใ€IgE้ซ˜ๅ€คใ€่ก€ๆธ…MPO-ANCA๏ผˆp-ANCA๏ผ‰้™ฝๆ€งใชใฉใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200264 + + Eosinophilic granulomatosis with polyangiitis + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ + - - + + + Allergic granulomatous angiitis + Churg Strauss syndrome + EGPA + ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž + ใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ - - 46 - ๆ—ขๅญ˜ใฎ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ๏ผˆrheumatic arthritis๏ผšRA๏ผ‰ใซใ€่ก€็ฎก็‚Žใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹้–ข็ฏ€ๅค–็—‡็Šถใ‚’่ชใ‚ใ€้›ฃๆฒปๆ€งๅˆใฏ้‡็—‡ใช่‡จๅบŠ็—…ๆ…‹ใ‚’ไผดใ†ๅ ดๅˆใซใ€ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใ„ใ†ใ€‚ๅ†…่‡“้šœๅฎณใŒใชใใ€้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ้–ข็ฏ€็—…ๅค‰ใŒ้€ฒ่กŒใ—ใฆ้–ข็ฏ€ใฎๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใฆ่บซไฝ“้šœๅฎณใŒใ‚‚ใŸใ‚‰ใ•ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใฏใ„ใ‚ใชใ„ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ’ใงใ‚ใ‚‹ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ่ก€็ฎก็‚Žใฏ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽใจๅŒๆง˜ใชๅ…จ่บซๆ€งๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ†…่‡“ใ‚’็ณป็ตฑ็š„ใซไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏ๏ผ‰ใจๅ†…่†œใฎ็ทš็ถญๆ€งๅข—ๆฎ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆœซๆขขๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ››่‚ขๆœซๆขขๅŠใณ็šฎ่†šใ‚’ไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏๅฅฝ๏ผ‰ใฎ๏ผ’ใคใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่ก€็ฎก็‚Žไปฅๅค–ใฎ่‡“ๅ™จ็—‡็Šถใจใ—ใฆใฏใ€้–“่ณชๆ€ง่‚บ็‚Žใ‚’็”Ÿใ˜ใ‚‹ใจ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 1200265 - - Malignant Rheumatoid Arthritis + + 46 + ๆ—ขๅญ˜ใฎ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ๏ผˆrheumatic arthritis๏ผšRA๏ผ‰ใซใ€่ก€็ฎก็‚Žใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹้–ข็ฏ€ๅค–็—‡็Šถใ‚’่ชใ‚ใ€้›ฃๆฒปๆ€งๅˆใฏ้‡็—‡ใช่‡จๅบŠ็—…ๆ…‹ใ‚’ไผดใ†ๅ ดๅˆใซใ€ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใ„ใ†ใ€‚ๅ†…่‡“้šœๅฎณใŒใชใใ€้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ้–ข็ฏ€็—…ๅค‰ใŒ้€ฒ่กŒใ—ใฆ้–ข็ฏ€ใฎๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใฆ่บซไฝ“้šœๅฎณใŒใ‚‚ใŸใ‚‰ใ•ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใฏใ„ใ‚ใชใ„ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ’ใงใ‚ใ‚‹ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ่ก€็ฎก็‚Žใฏ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽใจๅŒๆง˜ใชๅ…จ่บซๆ€งๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ†…่‡“ใ‚’็ณป็ตฑ็š„ใซไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏ๏ผ‰ใจๅ†…่†œใฎ็ทš็ถญๆ€งๅข—ๆฎ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆœซๆขขๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ››่‚ขๆœซๆขขๅŠใณ็šฎ่†šใ‚’ไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏๅฅฝ๏ผ‰ใฎ๏ผ’ใคใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่ก€็ฎก็‚Žไปฅๅค–ใฎ่‡“ๅ™จ็—‡็Šถใจใ—ใฆใฏใ€้–“่ณชๆ€ง่‚บ็‚Žใ‚’็”Ÿใ˜ใ‚‹ใจ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:1200265 + + Rheumatoid vasculitis + ใ‚ใใ›ใ„ใ‹ใ‚“ใ›ใคใ‚Šใ†ใพใก ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ - - + + + Malignant rheumatoid arthritis Rheumatoid arthritis with vasculitis + ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰่ก€็ฎก็‚Ž + ่ก€็ฎก็‚Žใ‚’ไผดใ†้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ + ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ - - 47 - ้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Žใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ››่‚ขใฎไธปๅนนๅ‹•่„ˆใซ้–‰ๅกžๆ€งใฎ่ก€็ฎกๅ…จๅฑค็‚Žใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซไธ‹่‚ขๅ‹•่„ˆใซๅฅฝ็™บใ—ใฆใ€่™š่ก€็—‡็Šถใจใ—ใฆ้–“ๆฌ ๆ€ง่ท›่กŒใ‚„ๅฎ‰้™ๆ™‚็–ผ็—›ใ€่™š่ก€ๆ€ง็šฎ่†šๆฝฐ็˜ใ€ๅฃŠ็–ฝ๏ผˆ็‰น็™บๆ€ง่„ฑ็–ฝใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’ๆฅใ™ใ€‚ใพใŸใ€ใ—ใฐใ—ใฐ่กจๅœจ้™่„ˆใซใ‚‚็‚Ž็—‡ใ‚’ๆฅใ—๏ผˆ้Š่ตฐๆ€ง้™่„ˆ็‚Ž๏ผ‰ใ€ใพใ‚Œใซๅคงๅ‹•่„ˆใ‚„ๅ†…่‡“ๅ‹•้™่„ˆใซใ‚‚็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ๅพ“ๅ‰ใ€Œใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…ใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ - 1200266 - - Buerger's Disease + + 47 + ้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Žใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ››่‚ขใฎไธปๅนนๅ‹•่„ˆใซ้–‰ๅกžๆ€งใฎ่ก€็ฎกๅ…จๅฑค็‚Žใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซไธ‹่‚ขๅ‹•่„ˆใซๅฅฝ็™บใ—ใฆใ€่™š่ก€็—‡็Šถใจใ—ใฆ้–“ๆฌ ๆ€ง่ท›่กŒใ‚„ๅฎ‰้™ๆ™‚็–ผ็—›ใ€่™š่ก€ๆ€ง็šฎ่†šๆฝฐ็˜ใ€ๅฃŠ็–ฝ๏ผˆ็‰น็™บๆ€ง่„ฑ็–ฝใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’ๆฅใ™ใ€‚ใพใŸใ€ใ—ใฐใ—ใฐ่กจๅœจ้™่„ˆใซใ‚‚็‚Ž็—‡ใ‚’ๆฅใ—๏ผˆ้Š่ตฐๆ€ง้™่„ˆ็‚Ž๏ผ‰ใ€ใพใ‚Œใซๅคงๅ‹•่„ˆใ‚„ๅ†…่‡“ๅ‹•้™่„ˆใซใ‚‚็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ๅพ“ๅ‰ใ€Œใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…ใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ + NANDO:1200266 + + Buerger's disease + ใฐใƒผใ˜ใ‚ƒใƒผใณใ‚‡ใ† ใƒใƒผใ‚ธใƒฃใƒผ็—… - - + + + TAO Thromboangiitis obliterans + ใƒ“ใƒฅใƒซใ‚ฌใƒผ็—… + ้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Ž ใƒใƒผใ‚ธใƒฃใƒผ็—… - - 48 - ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใซใฏใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaCL๏ผ‰ใ€ใƒซใƒผใƒ—ใ‚นๆŠ—ๅ‡ๅ›บๅ› ๅญ๏ผˆLAC๏ผ‰ใ€ใƒฏใƒƒใ‚ปใƒซใƒžใƒณๅๅฟœ๏ผˆSTS๏ผ‰ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฎๆŠ—ไฝ“ใ‚’ๆœ‰ใ—ใ€่‡จๅบŠ็š„ใซๅ‹•๏ฝฅ้™่„ˆใฎ่ก€ๆ “็—‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€็ฟ’ๆ…ฃๆต็”ฃ๏ฝฅๆญป็”ฃ๏ฝฅๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใชใฉใ‚’ใฟใ‚‹ๅ ดๅˆใซๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆAPS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๅง‹ใ‚ใจใ™ใ‚‹่† ๅŽŸ็—…ใ‚„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒ๏ผˆ็ถš็™บๆ€ง๏ผ‰ใ€ๅŽŸ็™บๆ€งAPSใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใพใŸใ€ๅคš่‡“ๅ™จๆข—ๅกžใ‚’ๅŒๆ™‚ใซใฟใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๆ…‹ใฏใ€ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆcatastrophicใ€€APS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚ - 1200267 - - Antiphospholipid Antibody Syndrome + + 48 + ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใซใฏใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaCL๏ผ‰ใ€ใƒซใƒผใƒ—ใ‚นๆŠ—ๅ‡ๅ›บๅ› ๅญ๏ผˆLAC๏ผ‰ใ€ใƒฏใƒƒใ‚ปใƒซใƒžใƒณๅๅฟœ๏ผˆSTS๏ผ‰ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฎๆŠ—ไฝ“ใ‚’ๆœ‰ใ—ใ€่‡จๅบŠ็š„ใซๅ‹•๏ฝฅ้™่„ˆใฎ่ก€ๆ “็—‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€็ฟ’ๆ…ฃๆต็”ฃ๏ฝฅๆญป็”ฃ๏ฝฅๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใชใฉใ‚’ใฟใ‚‹ๅ ดๅˆใซๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆAPS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๅง‹ใ‚ใจใ™ใ‚‹่† ๅŽŸ็—…ใ‚„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒ๏ผˆ็ถš็™บๆ€ง๏ผ‰ใ€ๅŽŸ็™บๆ€งAPSใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใพใŸใ€ๅคš่‡“ๅ™จๆข—ๅกžใ‚’ๅŒๆ™‚ใซใฟใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๆ…‹ใฏใ€ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆcatastrophicใ€€APS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚ + NANDO:1200267 + + Primary antiphospholipid antibody syndrome + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค - - - - Antiphospholipid syndrome - + + + Primary APS + Primary antiphospholipid syndrome + ๅŽŸ็™บๆ€งAPS + ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค - - 48 - 1200268 - - Thrombotic Antiphospholipid Syndrome - ๅ‹•้™่„ˆ่ก€ๆ “็—‡ + + 48 + NANDO:1200268 + + Arterial thrombosis in antiphospholipid syndrome + ใฉใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†ใ‚’ใ‚†ใ†ใ™ใ‚‹ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅ‹•่„ˆ่ก€ๆ “็—‡ใ‚’ๆœ‰ใ™ใ‚‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค + - - - ๅ‹•้™่„ˆ่ก€ๆ “็—‡ - - - 48 - 1200269 - - Antiphospholipid Syndromeย andย Pregnancy - ๅฆŠๅจ ๅˆไฝต็—‡ + + + + ๅ‹•่„ˆ่ก€ๆ “็—‡ใ‚’ๆœ‰ใ™ใ‚‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค + + + 48 + NANDO:1200269 + + antiphospholipid antibody syndrome during pregnancy + ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใŒใฃใบใ„ใซใ‚“ใ—ใ‚“ + ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคๅˆไฝตๅฆŠๅจ  - - - ๅฆŠๅจ ๅˆไฝต็—‡ - - - 48 - 1200270 - + + + ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคๅˆไฝตๅฆŠๅจ  + + + 48 + NANDO:1200270 + Catastrophic antiphospholipid syndrome - ๅŠ‡็—‡ๅž‹ + ใ’ใใ—ใ‚‡ใ†ใŒใŸใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅŠ‡็—‡ๅž‹ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค - - + + + ๅŠ‡็—‡ๅž‹APS - ๅŠ‡็—‡ๅž‹ - - - 48 - 1200271 - + ๅŠ‡็—‡ๅž‹ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค + + + 48 + NANDO:1200271 + + Antiphospholipid antibody-related disease + ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ + - + + + ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ - - 49 - ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใฏDNA๏ผๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200272 - + + 49 + ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใฏDNA๏ผๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200272 + Systemic lupus erythematosus + ใœใ‚“ใ—ใ‚“ใ›ใ„ใˆใ‚Šใฆใพใจใƒผใงใ™ ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น + - - + + ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น - - 50 - ่‡ชๅทฑๅ…็–ซๆ€งใฎ็‚Ž็—‡ๆ€ง็ญ‹็–พๆ‚ฃใงใ€ไธปใซไฝ“ๅนนใ‚„ๅ››่‚ข่ฟ‘ไฝ็ญ‹ใ€้ ธ็ญ‹ใ€ๅ’ฝ้ ญ็ญ‹ใชใฉใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๅ…ธๅž‹็š„ใช็šฎ็–นใ‚’ไผดใ†ใ‚‚ใฎใฏใ€็šฎ่†š็ญ‹็‚Žใจๅ‘ผใถใ€‚็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ญ‹็ต„็น”ใ‚„็šฎ่†š็ต„็น”ใซๅฏพใ™ใ‚‹่‡ชๅทฑๅ…็–ซใงใ‚ใ‚‹ใŒใ€ๅ…จใฆใฎ็ญ‹๏ฝฅ็šฎ่†š็ต„็น”ใŒๅ†’ใ•ใ‚Œใ‚‹ใ‚ใ‘ใงใฏใชใใ€็‰นใซ็šฎ่†š็—‡็Šถใงใฏใ€็‰นๅพด็š„้ƒจไฝใซ็šฎ็–นใŒๅ‡บใ‚„ใ™ใ„ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ไธŠใ€็ญ‹็ต„็น”ๅดฉๅฃŠใ‚’ๅๆ˜ ใ—ใฆใ€็ญ‹ๅŽŸๆ€ง้…ต็ด ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใปใ‹ใ€ไป–ใฎ่† ๅŽŸ็—…ใจๅŒๆง˜ใซ้ซ˜ฮณใ‚ฐใƒญใƒ—ใƒชใƒณ่ก€็—‡ใ‚„่‡ชๅทฑๆŠ—ไฝ“ใ‚’่ชใ‚ใ‚‹ใ€‚2009ๅนดใฎ่‡จๅบŠ่ชฟๆŸปๅ€‹ไบบ็ฅจใฎ่งฃๆž็ตๆžœใซใ‚ˆใ‚Œใฐใ€ๅคš็™บๆ€ง็ญ‹็‚Ž๏ผˆpolymyositis๏ผšPM๏ผ‰ใƒป็šฎ่†š็ญ‹็‚Ž๏ผˆdermatomyositis๏ผšDM๏ผ‰ใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏใปใผๅŒๆ•ฐใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ“ใงใ€็™บ็—‡ใƒ”ใƒผใ‚ฏใฏ๏ผ•๏ฝž๏ผ™ๆญณใจ50ๆญณไปฃใซใ‚ใฃใŸใ€‚ - 1200273 - + + 50 + ่‡ชๅทฑๅ…็–ซๆ€งใฎ็‚Ž็—‡ๆ€ง็ญ‹็–พๆ‚ฃใงใ€ไธปใซไฝ“ๅนนใ‚„ๅ››่‚ข่ฟ‘ไฝ็ญ‹ใ€้ ธ็ญ‹ใ€ๅ’ฝ้ ญ็ญ‹ใชใฉใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๅ…ธๅž‹็š„ใช็šฎ็–นใ‚’ไผดใ†ใ‚‚ใฎใฏใ€็šฎ่†š็ญ‹็‚Žใจๅ‘ผใถใ€‚็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ญ‹็ต„็น”ใ‚„็šฎ่†š็ต„็น”ใซๅฏพใ™ใ‚‹่‡ชๅทฑๅ…็–ซใงใ‚ใ‚‹ใŒใ€ๅ…จใฆใฎ็ญ‹๏ฝฅ็šฎ่†š็ต„็น”ใŒๅ†’ใ•ใ‚Œใ‚‹ใ‚ใ‘ใงใฏใชใใ€็‰นใซ็šฎ่†š็—‡็Šถใงใฏใ€็‰นๅพด็š„้ƒจไฝใซ็šฎ็–นใŒๅ‡บใ‚„ใ™ใ„ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ไธŠใ€็ญ‹็ต„็น”ๅดฉๅฃŠใ‚’ๅๆ˜ ใ—ใฆใ€็ญ‹ๅŽŸๆ€ง้…ต็ด ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใปใ‹ใ€ไป–ใฎ่† ๅŽŸ็—…ใจๅŒๆง˜ใซ้ซ˜ฮณใ‚ฐใƒญใƒ—ใƒชใƒณ่ก€็—‡ใ‚„่‡ชๅทฑๆŠ—ไฝ“ใ‚’่ชใ‚ใ‚‹ใ€‚2009ๅนดใฎ่‡จๅบŠ่ชฟๆŸปๅ€‹ไบบ็ฅจใฎ่งฃๆž็ตๆžœใซใ‚ˆใ‚Œใฐใ€ๅคš็™บๆ€ง็ญ‹็‚Ž๏ผˆpolymyositis๏ผšPM๏ผ‰ใƒป็šฎ่†š็ญ‹็‚Ž๏ผˆdermatomyositis๏ผšDM๏ผ‰ใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏใปใผๅŒๆ•ฐใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ“ใงใ€็™บ็—‡ใƒ”ใƒผใ‚ฏใฏ๏ผ•๏ฝž๏ผ™ๆญณใจ50ๆญณไปฃใซใ‚ใฃใŸใ€‚ + NANDO:1200273 + Dermatomyositis/Polymyositis + ใฒใตใใ‚“ใˆใ‚“๏ผใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“ ็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž + - - + + + DM/PM ็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž - - 50 - 1200274 - + + 50 + NANDO:1200274 + Dermatomyositis + ใฒใตใใ‚“ใˆใ‚“ ็šฎ่†š็ญ‹็‚Ž - - + + ็šฎ่†š็ญ‹็‚Ž - - 50 - 1200275 - - amyopathic dermatomyositis + + 50 + NANDO:1200275 + + Amyopathic dermatomyositis + ใ‚€ใใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใฒใตใใ‚“ใˆใ‚“ ็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž - - - + + + ADM ็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž - - 50 - 1200276 - + + 50 + NANDO:1200276 + Polymyositis + ใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“ ๅคš็™บๆ€ง็ญ‹็‚Ž - - + + ๅคš็™บๆ€ง็ญ‹็‚Ž - - 51 - ๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSystemic sclerosis๏ผšSSc๏ผ‰ใฏใ€็šฎ่†šใ‚„ๅ†…่‡“ใŒ็กฌใใชใ‚‹ๅค‰ๅŒ–๏ผˆ็กฌๅŒ–ใจใ„ใ†ใ€‚๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆๆง˜ใ€…ใงใ‚ใ‚‹็‚นใซๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ“ใฎ่ฆณ็‚นใ‹ใ‚‰ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ๏ผ’ใคใซๅˆ†ใ‘ใ‚‹ๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใคใพใ‚Šใ€ๅ…ธๅž‹็š„ใช็—‡็Šถใ‚’็คบใ™ใ€Œใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใซๅˆ†ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰่€…ใฏ็™บ็—‡ใ‚ˆใ‚Š๏ผ•๏ฝž๏ผ–ๅนดไปฅๅ†…ใฏ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅพŒ่€…ใฎ่ปฝ็—‡ๅž‹ใงใฏ้€ฒ่กŒใฏใปใจใ‚“ใฉใชใ„ใ‹ใ€ใ‚ใ‚‹ใ„ใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ใชใŠใ€ใ€Œ้™ๅฑ€ๆ€งๅผท็šฎ็—‡ใ€ใฏ็šฎ่†šใฎใฟใซ็กฌๅŒ–ใŒ่ตทใ“ใ‚‹ๅ…จใๅˆฅใฎ็—…ๆฐ—ใงใ‚ใ‚Šใ€ๅ‰่ฟฐใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใฏๅ…จใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ - 1200277 - - Systemic Sclerosis + + 51 + ๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSystemic sclerosis๏ผšSSc๏ผ‰ใฏใ€็šฎ่†šใ‚„ๅ†…่‡“ใŒ็กฌใใชใ‚‹ๅค‰ๅŒ–๏ผˆ็กฌๅŒ–ใจใ„ใ†ใ€‚๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆๆง˜ใ€…ใงใ‚ใ‚‹็‚นใซๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ“ใฎ่ฆณ็‚นใ‹ใ‚‰ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ๏ผ’ใคใซๅˆ†ใ‘ใ‚‹ๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใคใพใ‚Šใ€ๅ…ธๅž‹็š„ใช็—‡็Šถใ‚’็คบใ™ใ€Œใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใซๅˆ†ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰่€…ใฏ็™บ็—‡ใ‚ˆใ‚Š๏ผ•๏ฝž๏ผ–ๅนดไปฅๅ†…ใฏ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅพŒ่€…ใฎ่ปฝ็—‡ๅž‹ใงใฏ้€ฒ่กŒใฏใปใจใ‚“ใฉใชใ„ใ‹ใ€ใ‚ใ‚‹ใ„ใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ใชใŠใ€ใ€Œ้™ๅฑ€ๆ€งๅผท็šฎ็—‡ใ€ใฏ็šฎ่†šใฎใฟใซ็กฌๅŒ–ใŒ่ตทใ“ใ‚‹ๅ…จใๅˆฅใฎ็—…ๆฐ—ใงใ‚ใ‚Šใ€ๅ‰่ฟฐใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใฏๅ…จใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ + NANDO:1200277 + + Systemic sclerosis + ใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ† ๅ…จ่บซๆ€งๅผท็šฎ็—‡ + - - + + Systemic scleroderma ๅ…จ่บซๆ€งๅผท็šฎ็—‡ - - 52 - ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…๏ผˆmixed connective tissue disease๏ผšMCTD๏ผ‰ใฏ่† ๅŽŸ็—…้‡่ค‡็—‡ๅ€™็พคใฎไธญใฎไธ€็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€ไปฅไธ‹ใฎไบŒใคใฎ็‰นๅพดใ‚’ๆŒใคๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ๅŠใณๅคš็™บๆ€ง็ญ‹็‚Žใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใŒใ€ๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌไบŒใฏใ€่ก€ๆธ…ไธญใซๆŠ—U1-RNP๏ผˆribonucleoprotein๏ผ‰ๆŠ—ไฝ“ใŒใ€้ซ˜ใ„ๆŠ—ไฝ“ไพกใงๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ - 1200278 - + + 52 + ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…๏ผˆmixed connective tissue disease๏ผšMCTD๏ผ‰ใฏ่† ๅŽŸ็—…้‡่ค‡็—‡ๅ€™็พคใฎไธญใฎไธ€็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€ไปฅไธ‹ใฎไบŒใคใฎ็‰นๅพดใ‚’ๆŒใคๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ๅŠใณๅคš็™บๆ€ง็ญ‹็‚Žใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใŒใ€ๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌไบŒใฏใ€่ก€ๆธ…ไธญใซๆŠ—U1-RNP๏ผˆribonucleoprotein๏ผ‰ๆŠ—ไฝ“ใŒใ€้ซ˜ใ„ๆŠ—ไฝ“ไพกใงๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200278 + Mixed connective tissue disease + ใ“ใ‚“ใ”ใ†ใ›ใ„ใ‘ใคใ”ใ†ใใ—ใใณใ‚‡ใ† ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—… + - - + + + MCTD ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—… - - 53 - ๆ…ขๆ€งๅ”พๆถฒ่…บ็‚Žใจไนพ็‡ฅๆ€ง่ง’็ต่†œ็‚Žใ‚’ไธปๅพดใจใ—ใ€ๅคšๅฝฉใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ไนพ็‡ฅ็—‡ใŒไธป็—‡็Šถใจใชใ‚‹ใŒใ€ๅ”พๆถฒ่…บใ€ๆถ™่…บใ ใ‘ใงใชใใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€autoimmune exocrinopathyใจใ‚‚็งฐใ•ใ‚Œใ‚‹ใ€‚ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏไป–ใฎ่† ๅŽŸ็—…ใฎๅˆไฝตใŒใฟใ‚‰ใ‚Œใชใ„ไธ€ๆฌกๆ€งใจ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใ‚„ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใชใฉใฎ่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไบŒๆฌกๆ€งใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€็—…ๅค‰ใŒๆถ™่…บใ€ๅ”พๆถฒ่…บใซ้™ๅฑ€ใ™ใ‚‹่…บๅž‹ใจ็—…ๅค‰ใŒๅ…จ่บซ่ซธ่‡“ๅ™จใซๅŠใถ่…บๅค–ๅž‹ใจใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๆง˜ใ€…ใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„่‡“ๅ™จใซๆตธๆฝคใ—ใŸ่‡ชๅทฑๅๅฟœๆ€งใƒชใƒณใƒ‘็ƒใฎๅญ˜ๅœจใซใ‚ˆใ‚Šใ€่‡ชๅทฑๅ…็–ซๅฟœ็ญ”ใŒใใฎ็—…ๅ› ใจใ—ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒใƒชใ‚ฏใƒญใƒผใƒŠใƒซใช้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใปใ‹ใ€ๆŠ—ๆ ธๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญใ€ๆŠ—SSโ€AๆŠ—ไฝ“ใ€ๆŠ—SSโ€BๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใŒๅ‡บ็พใ™ใ‚‹ใ€‚ - 1200279 - - Sjogren's Syndrome + + 53 + ๆ…ขๆ€งๅ”พๆถฒ่…บ็‚Žใจไนพ็‡ฅๆ€ง่ง’็ต่†œ็‚Žใ‚’ไธปๅพดใจใ—ใ€ๅคšๅฝฉใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ไนพ็‡ฅ็—‡ใŒไธป็—‡็Šถใจใชใ‚‹ใŒใ€ๅ”พๆถฒ่…บใ€ๆถ™่…บใ ใ‘ใงใชใใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€autoimmune exocrinopathyใจใ‚‚็งฐใ•ใ‚Œใ‚‹ใ€‚ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏไป–ใฎ่† ๅŽŸ็—…ใฎๅˆไฝตใŒใฟใ‚‰ใ‚Œใชใ„ไธ€ๆฌกๆ€งใจ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใ‚„ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใชใฉใฎ่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไบŒๆฌกๆ€งใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€็—…ๅค‰ใŒๆถ™่…บใ€ๅ”พๆถฒ่…บใซ้™ๅฑ€ใ™ใ‚‹่…บๅž‹ใจ็—…ๅค‰ใŒๅ…จ่บซ่ซธ่‡“ๅ™จใซๅŠใถ่…บๅค–ๅž‹ใจใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๆง˜ใ€…ใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„่‡“ๅ™จใซๆตธๆฝคใ—ใŸ่‡ชๅทฑๅๅฟœๆ€งใƒชใƒณใƒ‘็ƒใฎๅญ˜ๅœจใซใ‚ˆใ‚Šใ€่‡ชๅทฑๅ…็–ซๅฟœ็ญ”ใŒใใฎ็—…ๅ› ใจใ—ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒใƒชใ‚ฏใƒญใƒผใƒŠใƒซใช้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใปใ‹ใ€ๆŠ—ๆ ธๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญใ€ๆŠ—SSโ€AๆŠ—ไฝ“ใ€ๆŠ—SSโ€BๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใŒๅ‡บ็พใ™ใ‚‹ใ€‚ + NANDO:1200279 + + Sjogren's syndrome + ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค + - - + + Sjogren syndrome + Sjogren็—‡ๅ€™็พค ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค - - 53 - 1200280 - - Primary Sjogren syndrome + + 53 + NANDO:1200280 + + Primary Sjogren's syndrome + ใ„ใกใ˜ใ›ใ„ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค + - + + Primary Sjogren syndrome + ไธ€ๆฌกๆ€งSjogren็—‡ๅ€™็พค + ๅŽŸ็™บๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค + ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค - - 53 - 1200281 - - Secondary Sjogren Syndrome + + 53 + NANDO:1200281 + + Secondary Sjogren's syndrome + ใซใ˜ใ›ใ„ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค - + + Secondary Sjogren syndrome ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค - - 54 - ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis๏ผ‰ใฎใ†ใกๅ…จ่บซๅž‹ใฏใ€ๅฐๅ…ใฎ็†ฑๆ€ง็–พๆ‚ฃใจใ—ใฆStill๏ผˆ1897๏ผ‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚ŒใŸใ‚นใƒใƒซ็—…ใจๅŒใ˜ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚นใƒใƒซ็—…ใซใฏๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ€Bywaters๏ผˆ1971๏ผ‰ใฎๅ ฑๅ‘Šไปฅๆฅ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚16ๆญณไปฅไธŠใ‚’ๆˆไบบใจใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใจ็—…ๅƒใฏๅŒๆง˜ใ€ๆฒป็™‚ๆ–น้‡ใ‚‚ๅŒใ˜ใงใ‚ใ‚‹ใ€‚ๅฐๅ…็™บ็—‡ใงๆˆไบบใพใง้ทๅปถใ—ใŸไพ‹ใจๅˆใ‚ใ›ใฆๆˆไบบใ‚นใƒใƒซ็—…ใจๅ‘ผใฐใ‚Œใ€ๆœฌ้‚ฆ้›†่จˆใงๆˆไบบไพ‹ใฎ88๏ผ…ใŒๆˆไบบ็™บ็—‡ๅž‹ใงใ‚ใฃใŸใ€‚ๆˆไบบไพ‹ใฎ็™บ็—‡ๅนด้ฝขใฏใ€ๆœฌ้‚ฆ้›†่จˆใง20ๆญณๅ‰ๅพŒใ‚’ใƒ”ใƒผใ‚ฏใซๅนด้ฝขใจใจใ‚‚ใซ้›†่จˆๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€๏ผ–ๅ‰ฒใฏ16๏ฝž35ๆญณใซๅˆ†ๅธƒใ—ใ€ๅฅณๆ€งใŒ็”ทๆ€งใฎ๏ผ’ๅ€ใงใ‚ใ‚‹ใ€‚้ซ˜ๅนด้ฝขใงใฏๅฅณๆ€งใซๅใ‚Šใ€็จ€ใซ80ๆญณไปฃใฎ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ - 1200282 - - Adult-Still's Disease + + 54 + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis๏ผ‰ใฎใ†ใกๅ…จ่บซๅž‹ใฏใ€ๅฐๅ…ใฎ็†ฑๆ€ง็–พๆ‚ฃใจใ—ใฆStill๏ผˆ1897๏ผ‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚ŒใŸใ‚นใƒใƒซ็—…ใจๅŒใ˜ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚นใƒใƒซ็—…ใซใฏๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ€Bywaters๏ผˆ1971๏ผ‰ใฎๅ ฑๅ‘Šไปฅๆฅ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚16ๆญณไปฅไธŠใ‚’ๆˆไบบใจใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใจ็—…ๅƒใฏๅŒๆง˜ใ€ๆฒป็™‚ๆ–น้‡ใ‚‚ๅŒใ˜ใงใ‚ใ‚‹ใ€‚ๅฐๅ…็™บ็—‡ใงๆˆไบบใพใง้ทๅปถใ—ใŸไพ‹ใจๅˆใ‚ใ›ใฆๆˆไบบใ‚นใƒใƒซ็—…ใจๅ‘ผใฐใ‚Œใ€ๆœฌ้‚ฆ้›†่จˆใงๆˆไบบไพ‹ใฎ88๏ผ…ใŒๆˆไบบ็™บ็—‡ๅž‹ใงใ‚ใฃใŸใ€‚ๆˆไบบไพ‹ใฎ็™บ็—‡ๅนด้ฝขใฏใ€ๆœฌ้‚ฆ้›†่จˆใง20ๆญณๅ‰ๅพŒใ‚’ใƒ”ใƒผใ‚ฏใซๅนด้ฝขใจใจใ‚‚ใซ้›†่จˆๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€๏ผ–ๅ‰ฒใฏ16๏ฝž35ๆญณใซๅˆ†ๅธƒใ—ใ€ๅฅณๆ€งใŒ็”ทๆ€งใฎ๏ผ’ๅ€ใงใ‚ใ‚‹ใ€‚้ซ˜ๅนด้ฝขใงใฏๅฅณๆ€งใซๅใ‚Šใ€็จ€ใซ80ๆญณไปฃใฎ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200282 + + Adult Still's disease + ใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ† ๆˆไบบใ‚นใƒใƒซ็—… - - - Adult still disease + + + AOSD + Adult Still disease + Adult-onset Still disease + ๆˆไบบStill็—… ๆˆไบบใ‚นใƒใƒซ็—… - - 55 - ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆrelapsing polychondritis๏ผšRP๏ผ‰ใฏใ€ๅ…จ่บซใฎ่ปŸ้ชจ็ต„็น”็‰น็•ฐ็š„ใซๆ…ขๆ€งใ‹ใคๅ†็™บๆ€งใฎ็‚Ž็—‡ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200283 - + + 55 + ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆrelapsing polychondritis๏ผšRP๏ผ‰ใฏใ€ๅ…จ่บซใฎ่ปŸ้ชจ็ต„็น”็‰น็•ฐ็š„ใซๆ…ขๆ€งใ‹ใคๅ†็™บๆ€งใฎ็‚Ž็—‡ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200283 + Relapsing polychondritis + ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“ ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž + - - + + + RP ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž - - 56 - ๅฃ่…”็ฒ˜่†œใฎใ‚ขใƒ•ใ‚ฟๆ€งๆฝฐ็˜ใ€็šฎ่†š็—‡็Šถใ€็œผใฎใถใฉใ†่†œ็‚Žใ€ๅค–้™ฐ้ƒจๆฝฐ็˜ใ‚’ไธป็—‡็Šถใจใ—ใ€ๆ€ฅๆ€ง็‚Ž็—‡ๆ€ง็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 1200284 - - Behcet's Disease + + 56 + ๅฃ่…”็ฒ˜่†œใฎใ‚ขใƒ•ใ‚ฟๆ€งๆฝฐ็˜ใ€็šฎ่†š็—‡็Šถใ€็œผใฎใถใฉใ†่†œ็‚Žใ€ๅค–้™ฐ้ƒจๆฝฐ็˜ใ‚’ไธป็—‡็Šถใจใ—ใ€ๆ€ฅๆ€ง็‚Ž็—‡ๆ€ง็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:1200284 + + Behcet's disease + ในใƒผใกใ‡ใฃใจใณใ‚‡ใ† ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + - - + + Behcet disease ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… - - 57 - ๅทฆๅฎคๅŽ็ธฎไฝŽไธ‹ใจๅทฆๅฎคๅ†…่…”ใฎๆ‹กๅผตใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ซ˜่ก€ๅœงๆ€งใ€ๅผ่†œๆ€งใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใช็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 1200285 - - Idiopathic Dilated Cardiomyopathy + + 57 + ๅทฆๅฎคๅŽ็ธฎไฝŽไธ‹ใจๅทฆๅฎคๅ†…่…”ใฎๆ‹กๅผตใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ซ˜่ก€ๅœงๆ€งใ€ๅผ่†œๆ€งใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใช็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:1200285 + + Idiopathic dilated cardiomyopathy + ใจใใฏใคใ›ใ„ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ - - - + + ็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ - - 58 - ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใจใฏใ€ๅŽŸ็™บๆ€งใฎๅฟƒๅฎค่‚ฅๅคงใ‚’ใใŸใ™ๅฟƒ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใฏใ€Œๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅคงใ‚’ไผดใ†ๅทฆๅฎคใชใ„ใ—ๅณๅฎคใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่‚ฅๅคงใ€ใจๅฎš็พฉใ•ใ‚Œใ€ๅทฆๅฎคๆ‹กๅผตๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ€Œๅทฆๅฎคๆตๅ‡บ่ทฏ้–‰ๅกžใ‚’ใใŸใ™้–‰ๅกžๆ€งใจใใŸใ•ใชใ„้ž้–‰ๅกžๆ€งใ€ใซๅˆ†้กžใ•ใ‚Œใ€ๅ‰่€…ใงใฏๅŽ็ธฎๆœŸใซๅทฆๅฎคๅ†…ๅœง่ผƒๅทฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎๅฎถๆ—ๆญดใ‚’ๆœ‰ใ™ไพ‹ใŒๅคšใ„ใ€‚ - 1200286 - + + 58 + ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใจใฏใ€ๅŽŸ็™บๆ€งใฎๅฟƒๅฎค่‚ฅๅคงใ‚’ใใŸใ™ๅฟƒ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใฏใ€Œๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅคงใ‚’ไผดใ†ๅทฆๅฎคใชใ„ใ—ๅณๅฎคใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่‚ฅๅคงใ€ใจๅฎš็พฉใ•ใ‚Œใ€ๅทฆๅฎคๆ‹กๅผตๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ€Œๅทฆๅฎคๆตๅ‡บ่ทฏ้–‰ๅกžใ‚’ใใŸใ™้–‰ๅกžๆ€งใจใใŸใ•ใชใ„้ž้–‰ๅกžๆ€งใ€ใซๅˆ†้กžใ•ใ‚Œใ€ๅ‰่€…ใงใฏๅŽ็ธฎๆœŸใซๅทฆๅฎคๅ†…ๅœง่ผƒๅทฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎๅฎถๆ—ๆญดใ‚’ๆœ‰ใ™ไพ‹ใŒๅคšใ„ใ€‚ + NANDO:1200286 + Hypertrophic cardiomyopathy + ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + - - + + + HCM ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 58 - 1200287 - - hypertrophic nonobstructive cardiomyopathy + + 58 + NANDO:1200287 + + Hypertrophic non-obstructive cardiomyopathy + ใฒใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + - - + + HNCM + NHCM + Non-obstructive hypertrophic cardiomyopathy + ้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 58 - 1200288 - - hypertrophic obstructive cardiomyopathy + + 58 + NANDO:1200288 + + Hypertrophic obstructive cardiomyopathy + ใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + - - + + HOCM ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 58 - 1200289 - - mid-ventricular obstruction + + 58 + NANDO:1200289 + + Mid-ventricular obstructive hypertrophic cardiomyopathy + ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใถใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - - MVO + + + MVOHCM ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 58 - 1200290 - - apical hypertrophic cardiomyopathy + + 58 + NANDO:1200290 + + Apical hypertrophic cardiomyopathy + ใ—ใ‚“ใ›ใ‚“ใถใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - + + + APH ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 58 - 1200291 - - dilated phase of hypertrophic cardiomyopathy + + 58 + NANDO:1200291 + + Dilated phase of hypertrophic cardiomyopathy + ใ‹ใใกใ‚‡ใ†ใใ†ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + - - + + + D-HCM ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 59 - 2005ๅนดใซ็™บ่กจใ•ใ‚ŒใŸ็‰น็™บๆ€งๅฟƒ็ญ‹็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹่จบๆ–ญใฎๆ‰‹ๅผ•ใใซใ‚ˆใ‚‹ใจใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎๅŸบๆœฌ็—…ๆ…‹ใฏๅทฆๅฟƒๅฎคๆ‹กๅผต้šœๅฎณใงใ‚ใ‚Šใ€๏ผˆ๏ผ‘๏ผ‰็กฌใ„ๅทฆๅฟƒๅฎค๏ผˆstiff left ventricle๏ผ‰ใฎๅญ˜ๅœจใ€๏ผˆ๏ผ’๏ผ‰ๅทฆๅฎคๆ‹กๅคงใ‚„่‚ฅๅคงใฎๆฌ ๅฆ‚ใ€๏ผˆ๏ผ“๏ผ‰ๆญฃๅธธใพใŸใฏๆญฃๅธธใซ่ฟ‘ใ„ๅทฆๅฎคๅŽ็ธฎๆฉŸ่ƒฝใ€๏ผˆ๏ผ”๏ผ‰ๅŽŸๅ› ๏ผˆๅŸบ็คŽๅฟƒ็–พๆ‚ฃ๏ผ‰ไธๆ˜Žใฎ๏ผ”้ …็›ฎใŒ่จบๆ–ญใฎๅฟ…่ฆๅๅˆ†ๆกไปถใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200292 - + + 59 + 2005ๅนดใซ็™บ่กจใ•ใ‚ŒใŸ็‰น็™บๆ€งๅฟƒ็ญ‹็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹่จบๆ–ญใฎๆ‰‹ๅผ•ใใซใ‚ˆใ‚‹ใจใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎๅŸบๆœฌ็—…ๆ…‹ใฏๅทฆๅฟƒๅฎคๆ‹กๅผต้šœๅฎณใงใ‚ใ‚Šใ€๏ผˆ๏ผ‘๏ผ‰็กฌใ„ๅทฆๅฟƒๅฎค๏ผˆstiff left ventricle๏ผ‰ใฎๅญ˜ๅœจใ€๏ผˆ๏ผ’๏ผ‰ๅทฆๅฎคๆ‹กๅคงใ‚„่‚ฅๅคงใฎๆฌ ๅฆ‚ใ€๏ผˆ๏ผ“๏ผ‰ๆญฃๅธธใพใŸใฏๆญฃๅธธใซ่ฟ‘ใ„ๅทฆๅฎคๅŽ็ธฎๆฉŸ่ƒฝใ€๏ผˆ๏ผ”๏ผ‰ๅŽŸๅ› ๏ผˆๅŸบ็คŽๅฟƒ็–พๆ‚ฃ๏ผ‰ไธๆ˜Žใฎ๏ผ”้ …็›ฎใŒ่จบๆ–ญใฎๅฟ…่ฆๅๅˆ†ๆกไปถใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200292 + Restrictive cardiomyopathy + ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ + + - - + + ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - - 59 - 1200293 - + + 59 + NANDO:1200293 + Idiopathic restrictive cardiomyopathy + ใจใใฏใคใ›ใ„ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - - + + + ็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - - 59 - 1200294 - + + 59 + NANDO:1200294 + Secondary restrictive cardiomyopathy + ใซใ˜ใ›ใ„ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - - + + + ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - - 60 - ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใฏใ€ๆœซๆขข่ก€ใงๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใŒไฝŽๅฝขๆˆใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ƒๆธ›ๅฐ‘ใฏๅฟ…ใšใ—ใ‚‚ๅ…จใฆใฎ่ก€็ƒใจใ„ใ†ใ‚ใ‘ใงใฏใชใใ€่ปฝ็—‡ไพ‹ใงใฏ่ฒง่ก€ใจ่ก€ๅฐๆฟๆธ›ๅฐ‘ใ ใ‘ใง็™ฝ่ก€็ƒๆ•ฐใฏๆญฃๅธธใจใ„ใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่จบๆ–ญใฎใŸใ‚ใซใฏใ€ไป–ใฎ็–พๆ‚ฃใซใ‚ˆใ‚‹ๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็‰นใซ่จบๆ–ญใŒ็ด›ใ‚‰ใ‚ใ—ใ„็–พๆ‚ฃใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎไธๅฟœๆ€ง่ฒง่ก€๏ผˆFABๅˆ†้กž๏ผ‰ใงใ‚ใ‚‹ใ€‚ - 1200295 - + + 60 + ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใฏใ€ๆœซๆขข่ก€ใงๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใŒไฝŽๅฝขๆˆใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ƒๆธ›ๅฐ‘ใฏๅฟ…ใšใ—ใ‚‚ๅ…จใฆใฎ่ก€็ƒใจใ„ใ†ใ‚ใ‘ใงใฏใชใใ€่ปฝ็—‡ไพ‹ใงใฏ่ฒง่ก€ใจ่ก€ๅฐๆฟๆธ›ๅฐ‘ใ ใ‘ใง็™ฝ่ก€็ƒๆ•ฐใฏๆญฃๅธธใจใ„ใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่จบๆ–ญใฎใŸใ‚ใซใฏใ€ไป–ใฎ็–พๆ‚ฃใซใ‚ˆใ‚‹ๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็‰นใซ่จบๆ–ญใŒ็ด›ใ‚‰ใ‚ใ—ใ„็–พๆ‚ฃใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎไธๅฟœๆ€ง่ฒง่ก€๏ผˆFABๅˆ†้กž๏ผ‰ใงใ‚ใ‚‹ใ€‚ + NANDO:1200295 + Aplastic anemia + ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - + - - - + + + Aplastic anaemia ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - 60 - 1200296 - + + 60 + NANDO:1200296 + Idiopathic aplastic anemia + ใจใใฏใคใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + - + + Idiopathic aplastic anaemia ็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - 60 - 1200297 - + + 60 + NANDO:1200297 + Secondary aplastic anemia + ใซใ˜ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - + - - + + Secondary aplastic anaemia ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - 60 - 1200298 - + + 60 + NANDO:1200298 + + Atypical aplastic anemia + ใจใใ—ใ‚…ใŒใŸใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - - - 60 - 1200299 - - Hepatitis-Associated Aplastic Anemia - ่‚็‚ŽๅพŒ + + Atypical aplastic anaemia + ็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + 60 + NANDO:1200299 + + Hepatitis-associated aplastic anemia + ใ‹ใ‚“ใˆใ‚“ใ”ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค + ่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - ่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - ่‚็‚ŽๅพŒ - - - 60 - 1200300 - - aplastic anaemia--paroxysmal nocturnal haemoglobinuria syndrome + + Hepatitis-associated aplastic anaemia + ่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + 60 + NANDO:1200300 + + Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome + ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใคใดใƒผใˆใฌใˆใ„ใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค - + + Aplastic anaemia-PNH syndrome + Aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome + ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค - - 60 - 1200301 - + + 60 + NANDO:1200301 + + Borderline between aplastic anemia and MDS MDSใจใฎๅขƒ็•Œๅž‹ + ใˆใ‚€ใงใƒใƒผใˆใ™ใจใฎใใ‚‡ใ†ใ‹ใ„ใŒใŸ - - + + + Borderline between aplastic anaemia and MDS + + MDSใจใฎๅขƒ็•Œๅž‹ - - 60 - 1200302 - + + 60 + NANDO:1200302 + Congenital aplastic anemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + - + + Congenital aplastic anaemia ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - 60 - 1200303 - - fanconi anemia + + 60 + NANDO:1200303 + + Fanconi anemia + ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ - + + - - - - + + + + Fanconi anaemia ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ - - 60 - 1200304 - - dyskeratosis congenita - ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ - + + 60 + NANDO:1200304 + + Dyskeratosis congenita + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใตใœใ‚“ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ + - - + + + ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ - ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ + ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ - - 61 - ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆAIHA๏ผ‰ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒใฎๅฏฟๅ‘ฝใŒ่‘—ใ—ใ็Ÿญ็ธฎ๏ผˆๆบถ่ก€๏ผ‰ ใ—ใ€่ฒง่ก€ใ‚’ๆฅใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใซใคใชใŒใ‚‹็—…ๅ› ใฎ่ฉณ็ดฐใฏใ„ใพใ ไธๆ˜Žใฎ้ƒจๅˆ†ใŒๅคšใใ€่‡จๅบŠ็ตŒ้ŽใƒปไบˆๅพŒใฎ้ขใงใ‚‚ๅคšๆง˜ๆ€งใซๅฏŒใ‚€ไธๅ‡่ณชใช็—…ๆ…‹็พคใจ็†่งฃใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚’ๅ…ฑ้€š็‚นใจใ™ใ‚‹ใŒใ€ๆŠ—ไฝ“ใฎๆ€ง็Šถใ€่‡จๅบŠ็š„่กจ็พๅž‹ใ€ๅฅฝ็™บๅนด้ฝขใชใฉๆง˜ใ€…ใช่ฆณ็‚นใ‹ใ‚‰ใฟใฆ็•ฐใชใ‚‹็‰นๅพดใ‚’ใ‚‚ใค็—…ๆ…‹ใ‚’ๅŒ…ๅซใ™ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎ่ตค่ก€็ƒ็ตๅˆใฎๆœ€้ฉๆธฉๅบฆใซใ‚ˆใ‚Šๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 1200305 - + + 61 + ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆAIHA๏ผ‰ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒใฎๅฏฟๅ‘ฝใŒ่‘—ใ—ใ็Ÿญ็ธฎ๏ผˆๆบถ่ก€๏ผ‰ ใ—ใ€่ฒง่ก€ใ‚’ๆฅใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใซใคใชใŒใ‚‹็—…ๅ› ใฎ่ฉณ็ดฐใฏใ„ใพใ ไธๆ˜Žใฎ้ƒจๅˆ†ใŒๅคšใใ€่‡จๅบŠ็ตŒ้ŽใƒปไบˆๅพŒใฎ้ขใงใ‚‚ๅคšๆง˜ๆ€งใซๅฏŒใ‚€ไธๅ‡่ณชใช็—…ๆ…‹็พคใจ็†่งฃใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚’ๅ…ฑ้€š็‚นใจใ™ใ‚‹ใŒใ€ๆŠ—ไฝ“ใฎๆ€ง็Šถใ€่‡จๅบŠ็š„่กจ็พๅž‹ใ€ๅฅฝ็™บๅนด้ฝขใชใฉๆง˜ใ€…ใช่ฆณ็‚นใ‹ใ‚‰ใฟใฆ็•ฐใชใ‚‹็‰นๅพดใ‚’ใ‚‚ใค็—…ๆ…‹ใ‚’ๅŒ…ๅซใ™ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎ่ตค่ก€็ƒ็ตๅˆใฎๆœ€้ฉๆธฉๅบฆใซใ‚ˆใ‚Šๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200305 + Autoimmune hemolytic anemia + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - + + AIHA + Autoimmune haemolytic anaemia ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 61 - 1200306 - - Warm autoimmune hemolytic anemia + + 61 + NANDO:1200306 + + Warm antibody hemolytic anemia + ใŠใ‚“ใ—ใใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - + + Warm antibody AIHA + Warm antibody haemolytic anaemia + ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 61 - 1200307 - - cold agglutinin disease + + 61 + NANDO:1200307 + + Cold agglutinin disease + ใ‹ใ‚“ใ‚Œใ„ใŽใ‚‡ใ†ใ—ใ‚…ใ†ใใ—ใ‚‡ใ† ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ + - - + + + CAD ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ - - 61 - 1200308 - - paroxysmal cold haemoglobinuria - ๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ + + 61 + NANDO:1200308 + + Paroxysmal cold hemoglobinuria + ใปใฃใ•ใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ + - - - ๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ + + + PCH + Paroxysmal cold haemoglobinuria + + ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - 61 - 1200309 - + + 61 + NANDO:1200309 + Mixed-type autoimmune hemolytic anemia + ใ“ใ‚“ใ”ใ†ใŒใŸ ๆททๅˆๅž‹ - - + + + Mixed-type autoimmune haemolytic anaemia ๆททๅˆๅž‹ - - 61 - 1200310 - + + 61 + NANDO:1200310 + Evans syndrome + ใˆใฐใ‚“ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค - - + + + ใ‚จใƒใƒณใ‚น็—‡ๅ€™็พค ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค - - 62 - ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆParoximal Nocturnal Hemogrobinuria๏ผšPNH๏ผ‰ใฏใ€PIGA้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚’ไปฃ่กจใจใ™ใ‚‹้€ ่ก€ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏใพใ‚Œใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚PNHใฏใ€ๆ˜ญๅ’Œ49๏ผˆ1974๏ผ‰ๅนดใซๆบถ่ก€ๆ€ง่ฒง่ก€ใŒ็‰นๅฎš็–พๆ‚ฃใซๆŒ‡ๅฎšใ•ใ‚ŒใŸใ“ใจใซไผดใ„ใ€็ ”็ฉถๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅ–ใ‚ŠไธŠใ’ใ‚‰ใ‚Œใ€ใ€Œๆบถ่ก€ๆ€ง่ฒง่ก€่ชฟๆŸป็ ”็ฉถ็ญใ€๏ผˆ็ญ้•ทใ€€ไธ‰่ผชๅฒๆœ—๏ผ‰ใซใ‚ˆใฃใฆ็ต„็น”็š„ใช็ ”็ฉถใŒ้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‹ใ‚‰ไปŠๆ—ฅใซ่‡ณใ‚‹40ๅนดใซใ‚ใŸใฃใฆๆญดไปฃ็ญ้•ทใซใ‚ˆใ‚Š็–ซๅญฆใ€็—…ๅ› ใ€็—…ๆ…‹ใ€่จบๆ–ญใ€ๆฒป็™‚ใ€ไบˆๅพŒใชใฉๅน…ๅบƒใ„้ ˜ๅŸŸใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใŒ้‡ใญใ‚‰ใ‚ŒใฆใใŸใ€‚่จบๆ–ญๆ™‚๏ผˆๅˆ่จบๆ™‚๏ผ‰ๅนด้ฝขใฏใ€็‰น็™บๆ€ง้€ ่ก€้šœๅฎณใซ้–ขใ™ใ‚‹็ ”็ฉถ็ญใฎๅ…ฑๅŒ็ ”็ฉถใ€ŒPNHๆ‚ฃ่€…ใซใŠใ‘ใ‚‹่‡จๅบŠ็—…ๆญดใจ่‡ช็„ถๆญดใฎๆ—ฅ็ฑณๆฏ”่ผƒ่ชฟๆŸปใ€ใฎใƒ‡ใƒผใ‚ฟใซใ‚ˆใ‚‹ใจใ€45.1ๆญณ๏ผˆrange๏ผš10๏ฝž86๏ผ‰ใงใ‚ใฃใŸใ€‚่จบๆ–ญๆ™‚ๅนด้ฝขๅˆ†ๅธƒใฏใ€20๏ฝž60ๆญณไปฃใซๅคšใใพใ‚“ในใ‚“ใชใ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฌง็ฑณไพ‹ใงใฏใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟใ€่ก€ๆ “็—‡ใจใ„ใฃใŸPNHใฎๅคๅ…ธ็š„็—‡็ŠถใŒๅ‰้ขใซๅ‡บใ‚„ใ™ใ„ใฎใซๅฏพใ—ใ€ใ‚ขใ‚ธใ‚ขไพ‹ใงใฏใ‚€ใ—ใ‚้€ ่ก€ไธๅ…จ็—‡็ŠถใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚ - 1200311 - + + 62 + ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆParoximal Nocturnal Hemogrobinuria๏ผšPNH๏ผ‰ใฏใ€PIGA้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚’ไปฃ่กจใจใ™ใ‚‹้€ ่ก€ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏใพใ‚Œใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚PNHใฏใ€ๆ˜ญๅ’Œ49๏ผˆ1974๏ผ‰ๅนดใซๆบถ่ก€ๆ€ง่ฒง่ก€ใŒ็‰นๅฎš็–พๆ‚ฃใซๆŒ‡ๅฎšใ•ใ‚ŒใŸใ“ใจใซไผดใ„ใ€็ ”็ฉถๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅ–ใ‚ŠไธŠใ’ใ‚‰ใ‚Œใ€ใ€Œๆบถ่ก€ๆ€ง่ฒง่ก€่ชฟๆŸป็ ”็ฉถ็ญใ€๏ผˆ็ญ้•ทใ€€ไธ‰่ผชๅฒๆœ—๏ผ‰ใซใ‚ˆใฃใฆ็ต„็น”็š„ใช็ ”็ฉถใŒ้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‹ใ‚‰ไปŠๆ—ฅใซ่‡ณใ‚‹40ๅนดใซใ‚ใŸใฃใฆๆญดไปฃ็ญ้•ทใซใ‚ˆใ‚Š็–ซๅญฆใ€็—…ๅ› ใ€็—…ๆ…‹ใ€่จบๆ–ญใ€ๆฒป็™‚ใ€ไบˆๅพŒใชใฉๅน…ๅบƒใ„้ ˜ๅŸŸใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใŒ้‡ใญใ‚‰ใ‚ŒใฆใใŸใ€‚่จบๆ–ญๆ™‚๏ผˆๅˆ่จบๆ™‚๏ผ‰ๅนด้ฝขใฏใ€็‰น็™บๆ€ง้€ ่ก€้šœๅฎณใซ้–ขใ™ใ‚‹็ ”็ฉถ็ญใฎๅ…ฑๅŒ็ ”็ฉถใ€ŒPNHๆ‚ฃ่€…ใซใŠใ‘ใ‚‹่‡จๅบŠ็—…ๆญดใจ่‡ช็„ถๆญดใฎๆ—ฅ็ฑณๆฏ”่ผƒ่ชฟๆŸปใ€ใฎใƒ‡ใƒผใ‚ฟใซใ‚ˆใ‚‹ใจใ€45.1ๆญณ๏ผˆrange๏ผš10๏ฝž86๏ผ‰ใงใ‚ใฃใŸใ€‚่จบๆ–ญๆ™‚ๅนด้ฝขๅˆ†ๅธƒใฏใ€20๏ฝž60ๆญณไปฃใซๅคšใใพใ‚“ในใ‚“ใชใ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฌง็ฑณไพ‹ใงใฏใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟใ€่ก€ๆ “็—‡ใจใ„ใฃใŸPNHใฎๅคๅ…ธ็š„็—‡็ŠถใŒๅ‰้ขใซๅ‡บใ‚„ใ™ใ„ใฎใซๅฏพใ—ใ€ใ‚ขใ‚ธใ‚ขไพ‹ใงใฏใ‚€ใ—ใ‚้€ ่ก€ไธๅ…จ็—‡็ŠถใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚ + NANDO:1200311 + Paroxysmal nocturnal hemoglobinuria + ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ + - - + + + PNH + Paroxysmal nocturnal haemoglobinuria ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - 62 - 1200312 - - Classicalย Paroxysmal Nocturnal Hemoglobinuria - ๅคๅ…ธ็š„PNH + + 62 + NANDO:1200312 + + Classical paroxysmal nocturnal hemoglobinuria + ใ“ใฆใ‚“ใฆใใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ๅคๅ…ธ็š„็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - - ๅคๅ…ธ็š„PNH - - - 62 - 1200313 - - PNH in the setting of another specified bone marrow disorder - ้ชจ้ซ„ไธๅ…จๅž‹PNH + + + Classical Paroxysmal Nocturnal Haemoglobinuria + ๅคๅ…ธ็š„PNH + + ๅคๅ…ธ็š„็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ + + + 62 + NANDO:1200313 + + Paroxysmal nocturnal hemoglobinuria in the setting of another specified bone marrow disorder + ใ“ใคใšใ„ใตใœใ‚“ใŒใŸใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ้ชจ้ซ„ไธๅ…จๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - - ้ชจ้ซ„ไธๅ…จๅž‹PNH - - - 62 - 1200314 - - Paroxysmal nocturnal hemoglobinuria - ๆททๅˆๅž‹PNH + + + PNH in the setting of another specified bone marrow disorder + Paroxysmal nocturnal haemoglobinuria in the setting of another specified bone marrow disorder + ้ชจ้ซ„ไธๅ…จๅž‹PNH + + ้ชจ้ซ„ไธๅ…จๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ + + + 62 + NANDO:1200314 + + Mixed type paroxysmal nocturnal hemoglobinuria + ใ“ใ‚“ใ”ใ†ใŒใŸใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ๆททๅˆๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - + + + Mixed type paroxysmal nocturnal haemoglobinuria + ๆททๅˆๅž‹PNH - ๆททๅˆๅž‹PNH + ๆททๅˆๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - 63 - ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็™บ็พใ—ใ€่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆฌง็ฑณใซใŠใ„ใฆๆœฌ็—‡ใฏใ€ไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆprimary immune thrombocytopenia๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฎๅทจๆ ธ็ƒ็”ฃ็”Ÿ่ƒฝใฎไฝŽไธ‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใชใ„ใ€‚ITPใฎ่จบๆ–ญใฏไปŠใงใ‚‚้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŸบ็คŽ็–พๆ‚ฃใ‚„ใ€่–ฌๅ‰คใฎ้–ขไธŽใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ยตLๆœชๆบ€ใ‚’ใ•ใ™ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ๅฐๆฟ่‡ชๅทฑๆŠ—ไฝ“ใŒ้ชจ้ซ„ๅทจๆ ธ็ƒใซใ‚‚็ตๅˆใ—ใ€่ก€ๅฐๆฟใฎ็”ฃ็”Ÿ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200315 - + + 63 + ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็™บ็พใ—ใ€่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆฌง็ฑณใซใŠใ„ใฆๆœฌ็—‡ใฏใ€ไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆprimary immune thrombocytopenia๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฎๅทจๆ ธ็ƒ็”ฃ็”Ÿ่ƒฝใฎไฝŽไธ‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใชใ„ใ€‚ITPใฎ่จบๆ–ญใฏไปŠใงใ‚‚้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŸบ็คŽ็–พๆ‚ฃใ‚„ใ€่–ฌๅ‰คใฎ้–ขไธŽใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ยตLๆœชๆบ€ใ‚’ใ•ใ™ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ๅฐๆฟ่‡ชๅทฑๆŠ—ไฝ“ใŒ้ชจ้ซ„ๅทจๆ ธ็ƒใซใ‚‚็ตๅˆใ—ใ€่ก€ๅฐๆฟใฎ็”ฃ็”Ÿ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200315 + Idiopathic thrombocytopenic purpura + ใจใใฏใคใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - + + + Primary immune thrombocytopenia ็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 64 - ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผšTTP๏ผ‰ใฏใ€1924ๅนด็ฑณๅ›ฝใฎEli Moschcowitzใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆญดๅฒ็š„ใซใฏ๏ผ‘๏ผ‰ๆถˆ่€—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€๏ผ“๏ผ‰่…ŽๆฉŸ่ƒฝ้šœๅฎณใ€๏ผ”๏ผ‰็™บ็†ฑใ€๏ผ•๏ผ‰ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ้šœๅฎณใฎๅคๅ…ธ็š„๏ผ•ๅพดๅ€™ใง่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€๏ผ‘๏ผ‰๏ผ’๏ผ‰ใฎใฟใฎ็—‡ไพ‹ใงใ‚‚ๅŒๆง˜ใฎ็—…ๆ…‹ใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸใŒใ€ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏADAMTS13ๆดปๆ€ง่‘—ๆธ›๏ผˆ10๏ผ…ๆœชๆบ€๏ผ‰ใฎใฟใŒTTPใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚TTPใฎ็ฝนๆ‚ฃๅนดไปคใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰่€ไบบใพใงใจๅน…ๅบƒใใ€ๆ—ฅๆœฌๅ›ฝๅ†…ใงใฏ30๏ฝž50ๆญณใจ60ๆญณๅ‰ๅพŒใซ็™บ็—‡ใƒ”ใƒผใ‚ฏใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฝนๆ‚ฃ็Ž‡ใฏๅฅณๆ€งใซใ‚„ใ‚„ๅคšใ„ใŒใ€30๏ฝž50ๆญณใงใฏๅฅณๆ€งใŒๆ˜Žใ‚‰ใ‹ใซๅคšใใ€้ซ˜้ฝขใซใชใ‚Œใฐ็”ทๆ€งใฎๆฏ”็Ž‡ใŒ้ซ˜ใพใ‚‹ใ€‚ - 1200316 - + + 64 + ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผšTTP๏ผ‰ใฏใ€1924ๅนด็ฑณๅ›ฝใฎEli Moschcowitzใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆญดๅฒ็š„ใซใฏ๏ผ‘๏ผ‰ๆถˆ่€—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€๏ผ“๏ผ‰่…ŽๆฉŸ่ƒฝ้šœๅฎณใ€๏ผ”๏ผ‰็™บ็†ฑใ€๏ผ•๏ผ‰ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ้šœๅฎณใฎๅคๅ…ธ็š„๏ผ•ๅพดๅ€™ใง่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€๏ผ‘๏ผ‰๏ผ’๏ผ‰ใฎใฟใฎ็—‡ไพ‹ใงใ‚‚ๅŒๆง˜ใฎ็—…ๆ…‹ใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸใŒใ€ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏADAMTS13ๆดปๆ€ง่‘—ๆธ›๏ผˆ10๏ผ…ๆœชๆบ€๏ผ‰ใฎใฟใŒTTPใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚TTPใฎ็ฝนๆ‚ฃๅนดไปคใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰่€ไบบใพใงใจๅน…ๅบƒใใ€ๆ—ฅๆœฌๅ›ฝๅ†…ใงใฏ30๏ฝž50ๆญณใจ60ๆญณๅ‰ๅพŒใซ็™บ็—‡ใƒ”ใƒผใ‚ฏใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฝนๆ‚ฃ็Ž‡ใฏๅฅณๆ€งใซใ‚„ใ‚„ๅคšใ„ใŒใ€30๏ฝž50ๆญณใงใฏๅฅณๆ€งใŒๆ˜Žใ‚‰ใ‹ใซๅคšใใ€้ซ˜้ฝขใซใชใ‚Œใฐ็”ทๆ€งใฎๆฏ”็Ž‡ใŒ้ซ˜ใพใ‚‹ใ€‚ + NANDO:1200316 + Thrombotic thrombocytopenic purpura + ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… + - - + + + TTP ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 64 - 1200317 - + + 64 + NANDO:1200317 + Congenital thrombotic thrombocytopenic purpura + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - + + + Upshaw-Schulman syndrome + Upshaw-Schulman็—‡ๅ€™็พค + ใ‚ขใƒƒใƒ—ใ‚ทใƒงใƒผใƒปใ‚ทใƒฅใƒผใƒซใƒžใƒณ็—‡ๅ€™็พค ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 64 - 1200318 - + + 64 + NANDO:1200318 + Acquired idiopathic thrombotic thrombocytopenic purpura + ใ“ใ†ใฆใ‚“ใ›ใ„ใ’ใ‚“ใฑใคใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - + + + ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 64 - 1200319 - - secondary thromboticย thrombocytopenic purpura + + 64 + NANDO:1200319 + + Secondary thrombotic thrombocytopenic purpura + ใ“ใ†ใฆใ‚“ใ›ใ„ใซใ˜ใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - + + + Secondary TTP + ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 65 - ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซๅ…็–ซ็ณปใฎใ„ใšใ‚Œใ‹ใฎ้ƒจๅˆ†ใซๆฌ ้™ฅใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅพŒๅคฉ็š„ใซๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹ใ‚จใ‚คใ‚บใชใฉใฎๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ๅ…็–ซๆ‹…ๅฝ“็ดฐ่ƒž๏ผˆไพ‹ใˆใฐใ€ๅฅฝไธญ็ƒใ€T็ดฐ่ƒžใ€B็ดฐ่ƒž๏ผ‰ใชใฉใฎ็จฎ้กžใ‚„้ƒจไฝใซใ‚ˆใ‚Š200่ฟ‘ใใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹ใฎใฏใ€ๆ„ŸๆŸ“ใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๅŠ›ใฎไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚้‡็—‡ๆ„ŸๆŸ“ใฎใŸใ‚้‡็ฏคใช่‚บ็‚Žใ€ไธญ่€ณ็‚Žใ€่†ฟ็˜ใ€้ซ„่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚ๆ™‚ใซ็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ไธญ่€ณ็‚Žใฎๅๅพฉใซใ‚ˆใ‚‹้›ฃ่ดใ€่‚บๆ„ŸๆŸ“ใฎๅๅพฉใซใ‚ˆใ‚Šๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 1200320 - - Primary Immunodeficiency Syndrome + + 65 + ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซๅ…็–ซ็ณปใฎใ„ใšใ‚Œใ‹ใฎ้ƒจๅˆ†ใซๆฌ ้™ฅใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅพŒๅคฉ็š„ใซๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹ใ‚จใ‚คใ‚บใชใฉใฎๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ๅ…็–ซๆ‹…ๅฝ“็ดฐ่ƒž๏ผˆไพ‹ใˆใฐใ€ๅฅฝไธญ็ƒใ€T็ดฐ่ƒžใ€B็ดฐ่ƒž๏ผ‰ใชใฉใฎ็จฎ้กžใ‚„้ƒจไฝใซใ‚ˆใ‚Š200่ฟ‘ใใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹ใฎใฏใ€ๆ„ŸๆŸ“ใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๅŠ›ใฎไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚้‡็—‡ๆ„ŸๆŸ“ใฎใŸใ‚้‡็ฏคใช่‚บ็‚Žใ€ไธญ่€ณ็‚Žใ€่†ฟ็˜ใ€้ซ„่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚ๆ™‚ใซ็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ไธญ่€ณ็‚Žใฎๅๅพฉใซใ‚ˆใ‚‹้›ฃ่ดใ€่‚บๆ„ŸๆŸ“ใฎๅๅพฉใซใ‚ˆใ‚Šๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200320 + + Primary immunodeficiency syndrome + ใ’ใ‚“ใฑใคใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค - - - Primary immunodeficiency + + + PID + Primary immunodeficiency disease ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค - - 65 - 1200321 - + + 65 + NANDO:1200321 + X-linked severe combined immunodeficiency X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† + - - + + + X-SCID X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ - - 65 - 1200322 - + + 65 + NANDO:1200322 + Reticular dysgenesis + ใ•ใ„ใ‚‚ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ + - - + + ็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ - - 65 - 1200323 - + + 65 + NANDO:1200323 + Adenosine deaminase deficiency - ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผ ๆฌ ๆ็—‡ + ใ‚ใงใฎใ—ใ‚“ใงใ‚ใฟใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡ + + - - + + + ADA deficiency ADAๆฌ ๆ็—‡ - ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผ ๆฌ ๆ็—‡ + ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - - 65 - 1200324 - + + 65 + NANDO:1200324 + Omenn syndrome + ใŠใƒผใ‚ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค + - - + + Omenn็—‡ๅ€™็พค ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค - - 65 - 1200325 - + + 65 + NANDO:1200325 + Purine nucleoside phosphorylase deficiency + ใทใ‚Šใ‚“ใฌใใ‚ŒใŠใ—ใฉใปใ™ใปใ‚Šใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + - - + + ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 65 - 1200326 - + + 65 + NANDO:1200326 + CD8 deficiency CD8ๆฌ ๆ็—‡ + ใ—ใƒผใงใƒใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - - + + + CD8ๆฌ ๆ็—‡ - - 65 - 1200327 - + + 65 + NANDO:1200327 + ZAP-70ๆฌ ๆ็—‡ Zap-70 deficiency + ใ–ใฃใท70ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + ZAP-70ๆฌ ๆ็—‡ - - 65 - 1200328 - + + 65 + NANDO:1200328 + MHC class I deficiency MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ + ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + + Major histocompatibility complex class I deficiency MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ - - 65 - 1200329 - + + 65 + NANDO:1200329 + MHC class II deficiency MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ + ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + + Major histocompatibility complex class II deficiency MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ - - 65 - 1200330 - + + 65 + NANDO:1200330 + Wiskott-Aldrich syndrome + ใ†ใƒใ™ใ“ใฃใจใƒปใŠใ‚‹ใฉใ‚Šใฃใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค + + + - - + + Wiskott-Aldrich็—‡ๅ€™็พค ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค - - 65 - 1200331 - + + 65 + NANDO:1200331 + Ataxia telangiectasia + ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ† ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡ + + - - + + ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡ - - 65 - 1200332 - + + 65 + NANDO:1200332 + Nijmegen breakage syndrome + ใชใ„ใฟใƒผใธใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใตใ‚ใ‚“ใฆใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค + + - - + + Nijmegen breakage็—‡ๅ€™็พค ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค - - 65 - 1200333 - + + 65 + NANDO:1200333 + Bloom syndrome + ใถใ‚‹ใƒผใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค + - - + + Bloom็—‡ๅ€™็พค ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค - - 65 - 1200334 - + + 65 + NANDO:1200334 + ICF syndrome ICF็—‡ๅ€™็พค + ใ‚ใ„ใ—ใƒผใˆใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - - + + ICF็—‡ๅ€™็พค - - 65 - 1200335 - + + 65 + NANDO:1200335 + PMS2 deficiency PMS2็•ฐๅธธ็—‡ + ใดใƒผใˆใ‚€ใˆใ™2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - - + + PMS2็•ฐๅธธ็—‡ - - 65 - 1200336 - + + 65 + NANDO:1200336 + RIDDLE syndrome RIDDLE็—‡ๅ€™็พค + ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + - - + + + Radiosensitivity, immunodeficiency dysmorphic features and learning difficulties syndrome RIDDLE็—‡ๅ€™็พค - - 65 - 1200337 - + + 65 + NANDO:1200337 + Schimke syndrome + ใ—ใ‚€ใ‘ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค + - - + + Schimke็—‡ๅ€™็พค ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค - - 65 - 1200338 - + + 65 + NANDO:1200338 + Netherton syndrome + ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค + + - - + + Netherton็—‡ๅ€™็พค ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค - - 65 - 1200339 - - thymus hypoplasia + + 65 + NANDO:1200339 + + Thymus hypoplasia + ใใ‚‡ใ†ใ›ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ ่ƒธ่…บไฝŽๅฝขๆˆ + + - - + + 22q11.2 deletion syndrome 22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค DiGeorge syndrome DiGeorge็—‡ๅ€™็พค + ใƒ‡ใ‚คใ‚ธใƒงใƒผใ‚ธ็—‡ๅ€™็พค + ่ƒธ่…บไฝŽๅฝขๆˆ - - 65 - 1200340 - + + 65 + NANDO:1200340 + Hyper-IgE syndrome + ใ“ใ†ใ‚ใ„ใ˜ใƒผใ„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ซ˜IgE็—‡ๅ€™็พค + - - + + ้ซ˜IgE็—‡ๅ€™็พค - - 65 - 1200341 - - Hepatic veno-occlusive disease-immunodeficiency syndrome + + 65 + NANDO:1200341 + + Hepatic veno-occlusive disease with immunodeficiency + ใ‹ใ‚“ใกใ‚…ใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† ่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡ + - - - Hepaticย Veno-Occlusive Diseaseย withย Immunodeficiency + + + VODI ่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡ - - 65 - 1200342 - + + 65 + NANDO:1200342 + Dyskeratosis congenita + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใตใœใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ + - - + + + ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ - - 65 - 1200343 - + + 65 + NANDO:1200343 + X-linked agammaglobulinemia X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚€ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† + - - + + + X-linked agammaglobulinaemia + XLA + X้€ฃ้Ž–็„กฮณใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ - - 65 - 1200344 - + + 65 + NANDO:1200344 + Common variable immunodeficiency + ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใŒใŸใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡ + - - + + + CVID ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡ - - 65 - 1200345 - - Hyper IgM syndrome + + 65 + NANDO:1200345 + + Hyper-IgM syndrome + ใ“ใ†ใ‚ใ„ใ˜ใƒผใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ซ˜IgM็—‡ๅ€™็พค - + - - + + - ้ซ˜IgM็—‡ๅ€™็พค - - 65 - 1200346 - + + 65 + NANDO:1200346 + IgG subclass deficiency IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡ + ใ‚ใ„ใ˜ใƒผใ˜ใƒผใ•ใถใใ‚‰ใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡ - - 65 - 1200347 - + + 65 + NANDO:1200347 + Selective IgA deficiency + ใ›ใ‚“ใŸใใฆใใ‚ใ„ใ˜ใƒผใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ้ธๆŠž็š„IgAๆฌ ๆ็—‡ + - - + + ้ธๆŠž็š„IgAๆฌ ๆ็—‡ - - 65 - 1200348 - + + 65 + NANDO:1200348 + Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells + ใจใใ„ใ“ใ†ใŸใ„ใ•ใ‚“ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡ + - - + + + ็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡ - - 65 - 1200349 - - Transient hypogammaglobulinaemia of infancy with normal numbers of B cells + + 65 + NANDO:1200349 + + Transient hypogammaglobulinemia of infancy with normal numbers of B cells + ใซใ‚…ใ†ใ˜ใ„ใฃใ‹ใ›ใ„ใฆใ„ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ + - - + + + Transient hypogammaglobulinaemia of infancy with normal numbers of B cells + ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ - - 65 - 1200350 - + + 65 + NANDO:1200350 + Chรฉdiak-Higashi syndrome + ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค + + - - + + + CHS Chรฉdiak-Higashi็—‡ๅ€™็พค ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค - - 65 - 1200351 - + + 65 + NANDO:1200351 + X-linked lymphoproliferative syndrome X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - - + + + XLP X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค - - 65 - 1200352 - + + 65 + NANDO:1200352 + Autoimmune lymphoproliferative syndrome + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค - + - - + + ALPS ALPS - ่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค - - 65 - 1200353 - + + 65 + NANDO:1200353 + Severe congenital neutropenia + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ + - - + + ้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - 65 - 1200354 - + + 65 + NANDO:1200354 + Cyclic neutropenia + ใ—ใ‚…ใ†ใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ + - - + + ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - 65 - 1200355 - + + 65 + NANDO:1200355 + Leukocyte adhesion deficiency + ใฏใฃใ‘ใฃใใ‚…ใ†ใ›ใฃใกใ‚ƒใใตใœใ‚“ใ—ใ‚‡ใ† ็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡ + + - - + + + LAD ็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡ - - 65 - 1200356 - + + 65 + NANDO:1200356 + Shwachman-Diamond syndrome + ใ—ใ‚…ใ‚ใฃใฏใพใ‚“ใƒปใ ใ„ใ‚ใ‚‚ใ‚“ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค - + + - - + + + SDS Shwachman-Diamond็—‡ๅ€™็พค - ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค - - 65 - 1200357 - + + 65 + NANDO:1200357 + Chronic granulomatous disease + ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + - + + CGD ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ - - 65 - 1200358 - + + 65 + NANDO:1200358 + Myeloperoxidase deficiency + ใฟใˆใ‚ใบใ‚‹ใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ + - - + + ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - - 65 - 1200359 - + + 65 + NANDO:1200359 + Mendelian susceptibility to mycobacterial disease + ใ‚ใ‚“ใงใ‚‹ใ„ใงใ‚“ใŒใŸใพใ„ใ“ใฐใใฆใ‚Šใ‚ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡ + - - + + + MSMD ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡ - - 65 - 1200360 - + + 65 + NANDO:1200360 + Anhidrotic ectodermal dysplasia with immunodeficiency + ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡ + - - + + + EDA-ID ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡ - - 65 - 1200361 - + + 65 + NANDO:1200361 + IRAK4 deficiency IRAK4ๆฌ ๆ็—‡ + ใ‚ใ„ใ‚‰ใฃใ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + IRAK4ๆฌ ๆ็—‡ - - 65 - 1200362 - + + 65 + NANDO:1200362 + MyD88 deficiency MyD88ๆฌ ๆ็—‡ + ใฟใฃใฉ88 / ใพใ„ใงใƒใƒผ88ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + MyD88ๆฌ ๆ็—‡ - - 65 - 1200363 - + + 65 + NANDO:1200363 + Chronic mucocutaneous candidiasis + ใพใ‚“ใ›ใ„ใฒใตใญใ‚“ใพใใ‹ใ‚“ใ˜ใ ใ—ใ‚‡ใ† ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ + - - + + + CMC ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ - - 65 - 1200364 - + + 65 + NANDO:1200364 + Inherited deficiency of complement system + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ + - - + + + ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ - - 65 - 1200365 - + + 65 + NANDO:1200365 + Hereditary angioedema + ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ‹ใ‚“ใ›ใ„ใตใ—ใ‚… ้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ + - - + + C1 inhibitor deficiency C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡ ้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ - - 66 - ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกใ€็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใจๅŸบ่ณชใฎๅข—ๆฎ–ๆ€งๅค‰ๅŒ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎIgAใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆฒˆ็€็‰ฉใจใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚ๅŒ็พฉ่ชžใจใ—ใฆIgA่…Ž็‚Žใ€ใƒใƒผใ‚ธใƒฃใƒผ๏ผˆBuerger๏ผ‰็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎไธ€็—…ๅž‹ใจใ—ใฆ็ขบ็ซ‹ใ—ใฆใ„ใ‚‹ใŒใ€ๆ—ฅๆœฌใซใŠใ„ใฆใฏ1970ๅนดไปฃๅˆๆœŸใ‹ใ‚‰ๆดป็™บใช็ ”็ฉถใŒ่กŒใ‚ใ‚Œใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกๆˆไบบใงใฏ30๏ผ…ไปฅไธŠใ€ๅฐๅ…ใงใ‚‚20๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๆ—ฅๆœฌใจๅŒใ˜ใ‚ˆใ†ใซๆœฌ็—‡ใŒๅคš็™บใ™ใ‚‹ๅ›ฝใจใ—ใฆใฏใ€ใ‚ขใ‚ธใ‚ขๅคชๅนณๆด‹ๅœฐๅŸŸใฎ่ซธๅ›ฝใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅŒ—ๆฌงใ‚„ๅŒ—็ฑณใงใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชๅœฐๅŸŸๅทฎใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚Šใ€ไธ€้ƒจใงใฏ่…Ž็”Ÿๆคœๆ–ฝ่กŒใฎ้ ปๅบฆใจๆฏ”ไพ‹ใ™ใ‚‹ใจใ‚‚ใ„ใ‚ใ‚Œใ€ๅŒ—็ฑณใซใŠใ„ใฆใฏ็™ฝไบบใซใฏๅคšใ„ใŒใ€้ป’ไบบใงใฏใพใ‚Œใงใ‚ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€ไฝ•ใ‚‰ใ‹ใฎไบบ็จฎ็š„ใƒป้บไผ็š„่ƒŒๆ™ฏใ‚‚ๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบใƒปๅฐๅ…ๅ…ฑใซ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ่ฆ‹ๆ™‚ใฎๅนด้ฝขใฏๆˆไบบใงใฏ20ๆญณไปฃใ€ๅฐๅ…ใงใฏ10ๆญณไปฃใŒๅคšใ„ใŒใ€ๆ‚ฃ่€…ๅฑคใฏๅ…จใฆใฎๅนด้ฝขใซใ‚ใŸใฃใฆใ„ใ‚‹ใ€‚ - 1200366 - - IgA Nephropathy + + 66 + ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกใ€็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใจๅŸบ่ณชใฎๅข—ๆฎ–ๆ€งๅค‰ๅŒ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎIgAใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆฒˆ็€็‰ฉใจใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚ๅŒ็พฉ่ชžใจใ—ใฆIgA่…Ž็‚Žใ€ใƒใƒผใ‚ธใƒฃใƒผ๏ผˆBuerger๏ผ‰็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎไธ€็—…ๅž‹ใจใ—ใฆ็ขบ็ซ‹ใ—ใฆใ„ใ‚‹ใŒใ€ๆ—ฅๆœฌใซใŠใ„ใฆใฏ1970ๅนดไปฃๅˆๆœŸใ‹ใ‚‰ๆดป็™บใช็ ”็ฉถใŒ่กŒใ‚ใ‚Œใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกๆˆไบบใงใฏ30๏ผ…ไปฅไธŠใ€ๅฐๅ…ใงใ‚‚20๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๆ—ฅๆœฌใจๅŒใ˜ใ‚ˆใ†ใซๆœฌ็—‡ใŒๅคš็™บใ™ใ‚‹ๅ›ฝใจใ—ใฆใฏใ€ใ‚ขใ‚ธใ‚ขๅคชๅนณๆด‹ๅœฐๅŸŸใฎ่ซธๅ›ฝใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅŒ—ๆฌงใ‚„ๅŒ—็ฑณใงใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชๅœฐๅŸŸๅทฎใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚Šใ€ไธ€้ƒจใงใฏ่…Ž็”Ÿๆคœๆ–ฝ่กŒใฎ้ ปๅบฆใจๆฏ”ไพ‹ใ™ใ‚‹ใจใ‚‚ใ„ใ‚ใ‚Œใ€ๅŒ—็ฑณใซใŠใ„ใฆใฏ็™ฝไบบใซใฏๅคšใ„ใŒใ€้ป’ไบบใงใฏใพใ‚Œใงใ‚ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€ไฝ•ใ‚‰ใ‹ใฎไบบ็จฎ็š„ใƒป้บไผ็š„่ƒŒๆ™ฏใ‚‚ๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบใƒปๅฐๅ…ๅ…ฑใซ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ่ฆ‹ๆ™‚ใฎๅนด้ฝขใฏๆˆไบบใงใฏ20ๆญณไปฃใ€ๅฐๅ…ใงใฏ10ๆญณไปฃใŒๅคšใ„ใŒใ€ๆ‚ฃ่€…ๅฑคใฏๅ…จใฆใฎๅนด้ฝขใซใ‚ใŸใฃใฆใ„ใ‚‹ใ€‚ + NANDO:1200366 + + IgA nephropathy Ig๏ผก่…Ž็—‡ + ใ‚ใ„ใ˜ใƒผใˆใƒผใ˜ใ‚“ใ—ใ‚‡ใ† + - - + + Ig๏ผก่…Ž็—‡ - - 67 - ไธกๅดใฎ่…Ž่‡“ใซๅšข่ƒžใŒ็„กๆ•ฐใซ็”Ÿใ˜ใ‚‹ใ€้บไผๆ€ง็–พๆ‚ฃใ€‚ๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆPolycystic Kidney๏ผ‰ใซใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Dominant Polycystic Kidney Disease๏ผšADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Recessive Polycystic Kidney Disease๏ผšARPKD๏ผ‰ใจใŒใ‚ใ‚‹ใ€‚ - 1200367 - Polycystic Kidney Disease + + 67 + ไธกๅดใฎ่…Ž่‡“ใซๅšข่ƒžใŒ็„กๆ•ฐใซ็”Ÿใ˜ใ‚‹ใ€้บไผๆ€ง็–พๆ‚ฃใ€‚ๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆPolycystic Kidney๏ผ‰ใซใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Dominant Polycystic Kidney Disease๏ผšADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Recessive Polycystic Kidney Disease๏ผšARPKD๏ผ‰ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:1200367 + Polycystic kidney disease + ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“ ๅคš็™บๆ€งๅšข่ƒž่…Ž + - - + + + PKD Polycystic kidney ๅคš็™บๆ€งๅšข่ƒž่…Ž - - 67 - 1200368 - - Autosomal Dominant Polycystic Kidney Disease + + 67 + NANDO:1200368 + + Autosomal dominant polycystic kidney disease + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“ ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž + - - + + ADPKD + Autosomal dominant PKD ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž - - 67 - 1200369 - - Autosomal Recessive Polycystic Kidney Disease + + 67 + NANDO:1200369 + + Autosomal recessive polycystic kidney disease + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“ ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž - + - - + + ARPKD ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž - - 68 - ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡๏ผˆthe ossification of the ligamentum flavum๏ผšOLF๏ผ‰ใฏใ€้ป„่‰ฒ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€่ƒธ่…ฐ็งป่กŒ้ƒจใซๅคšใ„ใŒใ€ๅ…จ่„ŠๆŸฑใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่จบๆ–ญใซใฏๅ˜็ด”ใƒฌใƒณใƒˆใ‚ฒใƒณๅ†™็œŸใ€ๆ–ญๅฑคๅ†™็œŸใ‚ใ‚‹ใ„ใฏMRIใ€CTใŒๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคšๆคŽ้–“็ฝนๆ‚ฃไพ‹ใฏ็ด„35๏ผ…ใงใ‚ใ‚‹ใ€‚้ ธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใ€ใ‚ใ‚‹ใ„ใฏ่ƒธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใจๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€่„ŠๆŸฑ็ฎกๅ†…้ฑๅธฏ้ชจๅŒ–ใฎไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 1200370 - - Ossification of Ligamentum Flavum + + 68 + ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡๏ผˆthe ossification of the ligamentum flavum๏ผšOLF๏ผ‰ใฏใ€้ป„่‰ฒ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€่ƒธ่…ฐ็งป่กŒ้ƒจใซๅคšใ„ใŒใ€ๅ…จ่„ŠๆŸฑใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่จบๆ–ญใซใฏๅ˜็ด”ใƒฌใƒณใƒˆใ‚ฒใƒณๅ†™็œŸใ€ๆ–ญๅฑคๅ†™็œŸใ‚ใ‚‹ใ„ใฏMRIใ€CTใŒๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคšๆคŽ้–“็ฝนๆ‚ฃไพ‹ใฏ็ด„35๏ผ…ใงใ‚ใ‚‹ใ€‚้ ธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใ€ใ‚ใ‚‹ใ„ใฏ่ƒธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใจๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€่„ŠๆŸฑ็ฎกๅ†…้ฑๅธฏ้ชจๅŒ–ใฎไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200370 + + Ossification of ligamentum flavum + ใŠใ†ใ—ใ‚‡ใใ˜ใ‚“ใŸใ„ใ“ใฃใ‹ใ—ใ‚‡ใ† ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡ - - + + + OLF Ossification of the ligamentum flavum ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡ - - 69 - ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใฏใ€่„ŠๆคŽๆคŽไฝ“ใฎๅพŒ็ธใ‚’้€ฃ็ตใ—ใ€่„ŠๆŸฑใฎใปใผๅ…จ้•ทใ‚’็ธฆ่ตฐใ™ใ‚‹ๅพŒ็ธฆ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ŠๆคŽ็ฎก็‹ญ็ช„ใ‚’ๆฅใ—ใ€่„Š้ซ„ๅˆใฏ็ฅž็ตŒๆ นใฎๅœง่ฟซ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ธๆคŽใซๆœ€ใ‚‚ๅคšใ„ใŒใ€่ƒธๆคŽใ‚„่…ฐๆคŽใซใ‚‚็”Ÿใ˜ใ‚‹ใ€‚ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ๆ‚ฃ่€…ใงใฏใ€ๅ‰็ธฆ้ฑๅธฏ้ชจๅŒ–ใ‚’ไธญๅฟƒใจใ—ใฆใ€ๅบƒๆฑŽใซ่„ŠๆŸฑ้ฑๅธฏ้ชจๅŒ–ใ‚’ๆฅใ™ๅผท็›ดๆ€ง่„ŠๆคŽ้ชจๅข—ๆฎ–็—‡ใ‚’็ด„40๏ผ…ใซๅˆไฝตใ—ใ€ใพใŸ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–ใ‚„ๆฃ˜ไธŠ้ฑๅธฏ้ชจๅŒ–ใฎๅˆไฝตใ‚‚ๅคšใใ€่„ŠๆคŽ้ฑๅธฏ้ชจๅŒ–ใฎไธ€้ƒจๅˆ†็—‡ใจใ—ใฆๆ‰ใˆใ‚‹่€ƒใˆใ‚‚ใ‚ใ‚‹ใ€‚ - 1200371 - + + 69 + ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใฏใ€่„ŠๆคŽๆคŽไฝ“ใฎๅพŒ็ธใ‚’้€ฃ็ตใ—ใ€่„ŠๆŸฑใฎใปใผๅ…จ้•ทใ‚’็ธฆ่ตฐใ™ใ‚‹ๅพŒ็ธฆ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ŠๆคŽ็ฎก็‹ญ็ช„ใ‚’ๆฅใ—ใ€่„Š้ซ„ๅˆใฏ็ฅž็ตŒๆ นใฎๅœง่ฟซ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ธๆคŽใซๆœ€ใ‚‚ๅคšใ„ใŒใ€่ƒธๆคŽใ‚„่…ฐๆคŽใซใ‚‚็”Ÿใ˜ใ‚‹ใ€‚ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ๆ‚ฃ่€…ใงใฏใ€ๅ‰็ธฆ้ฑๅธฏ้ชจๅŒ–ใ‚’ไธญๅฟƒใจใ—ใฆใ€ๅบƒๆฑŽใซ่„ŠๆŸฑ้ฑๅธฏ้ชจๅŒ–ใ‚’ๆฅใ™ๅผท็›ดๆ€ง่„ŠๆคŽ้ชจๅข—ๆฎ–็—‡ใ‚’็ด„40๏ผ…ใซๅˆไฝตใ—ใ€ใพใŸ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–ใ‚„ๆฃ˜ไธŠ้ฑๅธฏ้ชจๅŒ–ใฎๅˆไฝตใ‚‚ๅคšใใ€่„ŠๆคŽ้ฑๅธฏ้ชจๅŒ–ใฎไธ€้ƒจๅˆ†็—‡ใจใ—ใฆๆ‰ใˆใ‚‹่€ƒใˆใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200371 + Ossification of posterior longitudinal ligament + ใ“ใ†ใ˜ใ‚…ใ†ใ˜ใ‚“ใŸใ„ใ“ใฃใ‹ใ—ใ‚‡ใ† ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ - - + + + OPLL + OPLL + Ossification of the posterior longitudinal ligament ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ - - 70 - ้ ธใ€่ƒธใ€่…ฐๆคŽ้ƒจใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹่„ŠๆŸฑ็ฎก็‹ญๅฐใซใ‚ˆใ‚Šใ€่„Š้ซ„ใ€้ฆฌๅฐพ็ฅž็ตŒๅˆใฏ็ฅž็ตŒๆ นใฎ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ - 1200372 - - Coexisting Cervical and Lumbar Spinal Stenosis + + 70 + ้ ธใ€่ƒธใ€่…ฐๆคŽ้ƒจใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹่„ŠๆŸฑ็ฎก็‹ญๅฐใซใ‚ˆใ‚Šใ€่„Š้ซ„ใ€้ฆฌๅฐพ็ฅž็ตŒๅˆใฏ็ฅž็ตŒๆ นใฎ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ + NANDO:1200372 + + Coexisting cervical and lumbar spinal stenosis + ใ“ใ†ใฏใ‚“ใ›ใใกใ‚…ใ†ใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡ - - - Spinal stenosis + + ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡ - - 71 - ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฏใ€ๅคง่…ฟ้ชจ้ ญใŒ้˜ป่ก€ๆ€งๅฃŠๆญปใซ้™ฅใฃใฆๅœงๆฝฐใ—ใ€่‚ก้–ข็ฏ€ๆฉŸ่ƒฝใŒๅคฑใ‚ใ‚Œใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎใ†ใกใ€ ่„ฑ่‡ผใ‚„้ชจๆŠ˜ใชใฉใฎ้˜ป่ก€ๅŽŸๅ› ใŒๆ˜Žใ‚‰ใ‹ใงใ‚ใ‚‹ๅ ดๅˆไปฅๅค–ใŒ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎๆฒป็™‚ใฏ้•ทๆœŸ้–“ใซๅŠใถใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅŒป็™‚็ตŒๆธˆๅญฆ็š„ใซๅ•้กŒใŒๅคงใใ„ใ€‚ใพใŸใ€้’ใƒปๅฃฎๅนดๆœŸใซๅฅฝ็™บใ—ใฆๅŠดๅƒ่ƒฝๅŠ›ใ‚’่‘—ใ—ใไฝŽไธ‹ใ•ใ›ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅŠดๅƒ็ตŒๆธˆๅญฆ็š„ใซใ‚‚ๅคงใใชๆๅคฑใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎQOLใซๅคงใใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใซ้ฉๅˆ‡ใช่จบๆ–ญใ‚’่กŒใ„ใ€้ฉๅˆ‡ใชๆฒป็™‚ใธใจ็ตใณใคใ‘ใฆใ„ใๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 1200373 - - Idiopathic Osteonecrosis of Femoral Head + + 71 + ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฏใ€ๅคง่…ฟ้ชจ้ ญใŒ้˜ป่ก€ๆ€งๅฃŠๆญปใซ้™ฅใฃใฆๅœงๆฝฐใ—ใ€่‚ก้–ข็ฏ€ๆฉŸ่ƒฝใŒๅคฑใ‚ใ‚Œใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎใ†ใกใ€ ่„ฑ่‡ผใ‚„้ชจๆŠ˜ใชใฉใฎ้˜ป่ก€ๅŽŸๅ› ใŒๆ˜Žใ‚‰ใ‹ใงใ‚ใ‚‹ๅ ดๅˆไปฅๅค–ใŒ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎๆฒป็™‚ใฏ้•ทๆœŸ้–“ใซๅŠใถใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅŒป็™‚็ตŒๆธˆๅญฆ็š„ใซๅ•้กŒใŒๅคงใใ„ใ€‚ใพใŸใ€้’ใƒปๅฃฎๅนดๆœŸใซๅฅฝ็™บใ—ใฆๅŠดๅƒ่ƒฝๅŠ›ใ‚’่‘—ใ—ใไฝŽไธ‹ใ•ใ›ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅŠดๅƒ็ตŒๆธˆๅญฆ็š„ใซใ‚‚ๅคงใใชๆๅคฑใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎQOLใซๅคงใใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใซ้ฉๅˆ‡ใช่จบๆ–ญใ‚’่กŒใ„ใ€้ฉๅˆ‡ใชๆฒป็™‚ใธใจ็ตใณใคใ‘ใฆใ„ใๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:1200373 + + Idiopathic osteonecrosis of femoral head + ใจใใฏใคใ›ใ„ใ ใ„ใŸใ„ใ“ใคใจใ†ใˆใ—ใ—ใ‚‡ใ† ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ - - + + + ION Idiopathic osteonecrosis of the femoral head + ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ - - 72 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ - 1200374 - Diencephalo-hypophysial Insufficiency-Inappropriate ADH Syndrome + + 72 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ + NANDO:1200374 + Diencephalo-hypophysial insufficiency-inappropriate ADH syndrome + ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใˆใƒผใงใƒใƒผใˆใ„ใกใถใ‚“ใดใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡ - - + + Pituitary ADH secretion disorders ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡ - - 72 - 1200375 - + + 72 + NANDO:1200375 + Central diabetes insipidus + ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† ไธญๆžขๆ€งๅฐฟๅดฉ็—‡ - + - - + + ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - ไธญๆžขๆ€งๅฐฟๅดฉ็—‡ - - 72 - 1200376 - + + 72 + NANDO:1200376 + Syndrome of inappropriate secretion of antidiuretic hormone - ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡ + ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค + + - - + + + ADHๅˆ†ๆณŒไบข้€ฒ็—‡ SIADH + ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡ - ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡ - - - 73 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ - 1200377 - - Diencephalo-hypophysial Insufficiency-Inappropriate Thyroid stimulating Hormone Syndrome + ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค + + + 73 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ + NANDO:1200377 + + Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome + ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใฆใƒใƒผใˆใ™ใˆใ„ใกใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡ - - + + TSH-secreting pituitary adenoma ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡ - - 74 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ - 1200378 - - Diencephalo-hypophysial Insufficiency-Inappropriate Prolactin Syndrome + + 74 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ + NANDO:1200378 + + Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome + ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใดใƒผใ‚ใƒผใ‚‹ใˆใ‚‹ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡ - - + + + PRL-secreting pituitary adenoma Prolactin secreting pituitary adenoma ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡ - - 75 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ - 1200379 - - Cushing's Disease + + 75 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ + NANDO:1200379 + + Cushing disease + ใใฃใ—ใ‚“ใใณใ‚‡ใ† ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—… - + - - - Cushing disease - - + + + Cushing's Disease + Cushing็—… ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—… - - 76 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ - 1200380 - - Diencephalo-hypophysial dysfunction-Syndrome of abnormal secretion of Gonadotropin + + 76 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ + NANDO:1200380 + + Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of gonadotropin + ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡ - - + + Pituitary gonadotropin secretion hyperthyroidism ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡ - - 76 - 1200381 - + + 76 + NANDO:1200381 + Central precocious puberty + ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ† ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ - - + + ไธญๆžขๆ€งๆ€งๆ—ฉ็†Ÿ็—‡ ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ - - 76 - 1200382 - - idiopathic hypogonadotropic hypogonadism + + 76 + NANDO:1200382 + + Idiopathic hypogonadotropic hypogonadism + ใจใใฏใคใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ† ็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - + + ็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - 76 - 1200383 - - congenital hypogonadotropic hypogonadism + + 76 + NANDO:1200383 + + Congenital hypogonadotropic hypogonadism + ใ‹ใžใใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ† ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - + + ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - 76 - 1200384 - - acquired hypogonadotropic hypogonadism + + 76 + NANDO:1200384 + + Acquired hypogonadotropic hypogonadism + ใžใใฏใคใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ† ็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - + + ็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - 76 - 1200385 - - GH secreting pituitary adenoma + + 76 + NANDO:1200385 + + Growth hormone secreting pituitary adenoma + ใ‹ใ™ใ„ใŸใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ† ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜ - - + + + GH secreting pituitary adenoma + ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜ - - 77 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ - 1200386 - - Diencephalo-hypophysial dysfunction-Syndrome of abnormal secretion of Growth hormone + + 77 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ + NANDO:1200386 + + Diencephalo-hypophysial dysfunction-sndrome of abnormal secretion of growth hormone + ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡ - - + + Growth hormone secreting pituitary adenoma ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡ - - 78 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ - 1200387 - Hypopituitarism Syndrome + + 78 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚ + NANDO:1200387 + Hypopituitarism syndrome + ใ‹ใ™ใ„ใŸใ„ใœใ‚“ใ‚ˆใ†ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - + + Hypopituitarism ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 78 - 1200388 - - hypogonadotropic hypogonadism - ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ + + 78 + NANDO:1200388 + + Hypogonadotropic hypogonadism + ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† + ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ + + - - + + ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ + ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 78 - 1200389 - + + 78 + NANDO:1200389 + Syndrome of abnormal secretion of adrenocorticotropic hormone + ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ† ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - + + ACTHๅˆ†ๆณŒไฝŽไธ‹็—‡ + Adrenocorticotropic hormone deficiency ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - 78 - 1200390 - - Syndrome of abnormal secretion of thyroid-stimulating hormone + + 78 + NANDO:1200390 + + Thyroid-stimulating hormone deficiency + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ + - - + + TSHๅˆ†ๆณŒไฝŽไธ‹็—‡ + ็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - 78 - 1200391 - + + 78 + NANDO:1200391 + GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰ Growth hormone secretion deficiency of dwarfism + ใ˜ใƒผใˆใ„ใกใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ‚‡ใ†ใซ๏ผ‰ - - + + + Growth hormone deficiency ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๅฐๅ…๏ผ‰ GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰ - - 78 - 1200392 - + + 78 + NANDO:1200392 + Adult growth hormone deficiency + ใ›ใ„ใ˜ใ‚“ใ˜ใƒผใˆใ„ใกใถใ‚“ใดใคใตใœใ‚“ใ—ใ‚‡ใ† ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡ - - + + ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๆˆไบบ๏ผ‰ ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡ - - 78 - 1200393 - - Syndrome of abnormal secretion of Prolactin + + 78 + NANDO:1200393 + + Syndrome of abnormal secretion of prolactin + ใทใ‚ใ‚‰ใใกใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ† ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - - ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ + + + PRLๅˆ†ๆณŒไฝŽไธ‹็—‡ + Prolactin deficiency ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - 79 - ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆfamilial hypercholesterolaemia๏ผšFH๏ผ‰ใฏใ€LDLๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ˜ไธ€้บไผๅญ็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ๆ‚ฃ่€…ใฏ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎ้ ปๅบฆใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚FHใฏ้ซ˜LDL-ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใ€่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็กฌๅŒ–็—‡ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใจใƒ›ใƒขๆŽฅๅˆไฝ“ใฏใ€ๅ‡บ็พใ™ใ‚‹็—‡็Šถใ‚„็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅ€คใฎ็จ‹ๅบฆใ€ๆฒป็™‚ใธใฎๅๅฟœๆ€งใŒๅ…จใ็•ฐใชใ‚Šใ€ใใฎ็ฎก็†ใซใŠใ„ใฆใ‚‚ๅ…จใๅˆฅใฎๅ–ใ‚Šๆ‰ฑใ„ใ‚’ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 1200394 - - Familial Hypercholesterolemia ๏ผˆHomozygote ๏ผ‰ - ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰ + + 79 + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆfamilial hypercholesterolaemia๏ผšFH๏ผ‰ใฏใ€LDLๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ˜ไธ€้บไผๅญ็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ๆ‚ฃ่€…ใฏ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎ้ ปๅบฆใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚FHใฏ้ซ˜LDL-ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใ€่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็กฌๅŒ–็—‡ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใจใƒ›ใƒขๆŽฅๅˆไฝ“ใฏใ€ๅ‡บ็พใ™ใ‚‹็—‡็Šถใ‚„็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅ€คใฎ็จ‹ๅบฆใ€ๆฒป็™‚ใธใฎๅๅฟœๆ€งใŒๅ…จใ็•ฐใชใ‚Šใ€ใใฎ็ฎก็†ใซใŠใ„ใฆใ‚‚ๅ…จใๅˆฅใฎๅ–ใ‚Šๆ‰ฑใ„ใ‚’ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:1200394 + + Homozygous familial hypercholesterolemia + ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใปใ‚‚ใ›ใคใ”ใ†ใŸใ„ + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“ + - - - Homozygous familial hypercholesterolemia + + + FHใƒ›ใƒขๆŽฅๅˆไฝ“ + Homozygous FH + Homozygous familial hypercholesterolaemia - ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰ - - - 80 - ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡๏ผˆSyndrome of Resistance to Thyroid Hormone๏ผšRTH๏ผ‰ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967ๅนดใ€Refetoffใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚RTHใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“๏ผˆTR๏ผ‰ใ‚’ไป‹ใ—ใŸไฝœ็”จใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑๅž‹TR๏ผˆTRฮฑ๏ผ‰ใจTRฮฒใฎ๏ผ’ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85๏ผ…ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒใฎ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆฎ‹ใ‚Šใฎ็ด„15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใŒใ€TRฮฒ้บไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใงTRฮฒใฎๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนดTRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒใฎๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸใ€‚ - 1200395 - - Syndrome of Resistance to Thyroid Hormone + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“ + + + 80 + ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡๏ผˆSyndrome of Resistance to Thyroid Hormone๏ผšRTH๏ผ‰ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967ๅนดใ€Refetoffใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚RTHใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“๏ผˆTR๏ผ‰ใ‚’ไป‹ใ—ใŸไฝœ็”จใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑๅž‹TR๏ผˆTRฮฑ๏ผ‰ใจTRฮฒใฎ๏ผ’ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85๏ผ…ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒใฎ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆฎ‹ใ‚Šใฎ็ด„15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใŒใ€TRฮฒ้บไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใงTRฮฒใฎๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนดTRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒใฎๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸใ€‚ + NANDO:1200395 + + Resistance to thyroid hormone + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ + + - - - Resistance to thyroid hormone + + + RTH + Syndrome of Resistance to Thyroid Hormone Thyroid hormone insensitivity syndrome + + ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ - - 81 - ๅ‰ฏ่…Ž็šฎ่ณชใงใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žๆ€งใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใŒ็”ฃ็”Ÿใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใฏใ€ใ“ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใ‚’ไฝœใ‚‹้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใง่ตทใ“ใ‚‹็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒไฝœใ‚‰ใ‚Œใ‚‹้Ž็จ‹ใซใฏไบ”ใคใฎใƒใƒˆใ‚ฏใƒญใƒผใƒ ้…ต็ด ๏ผˆP450๏ผ‰ใจ3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผใฎๅ…ญใคใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใจใ—ใฆๅ…ญใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ“ใจใซใชใ‚‹ใ€‚ใ“ใฎใ†ใกใ€็‰นใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Šใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTH๏ผˆๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผ‰ใŒ้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹็ตๆžœๅ‰ฏ่…ŽใŒ้Žๅฝขๆˆใ‚’ๆฅใ™ใ‚‚ใฎใ‚’ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใจๅ‘ผใถใ€‚ใ“ใ‚Œใซใฏใ€ใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ใ€21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผ๏ผˆ3ฮฒ-HSD๏ผ‰ๆฌ ๆ็—‡ใฎไบ”ใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใ€้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใŒใงใใชใ„ใ‚‚ใฎใงใ€้Žๅ‰ฐใชACTHๅˆ†ๆณŒ้Žๅ‰ฐใ‚’ๆฅใ•ใชใ„ใ‚‚ใฎใจใ—ใฆ18-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚้…็™บๅž‹ใ‚’็คบใ™ใ‚‚ใฎใฏ21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใงใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ›ดใซๆœ€่ฟ‘ใงใฏใ€21ๆฐด้…ธๅŒ–้…ต็ด ใ€17ฮฑๆฐด้…ธๅŒ–้…ต็ด ๆดปๆ€งใŒใจใ‚‚ใซไฝŽไธ‹ใ—ใ€้ชจๅฅ‡ๅฝขใ‚’ไผดใ†้…ต็ด ๆฌ ๆ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผˆP450 ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€‚ - 1200396 - Congenital Adrenal Enzyme Deficiency + + 81 + ๅ‰ฏ่…Ž็šฎ่ณชใงใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žๆ€งใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใŒ็”ฃ็”Ÿใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใฏใ€ใ“ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใ‚’ไฝœใ‚‹้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใง่ตทใ“ใ‚‹็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒไฝœใ‚‰ใ‚Œใ‚‹้Ž็จ‹ใซใฏไบ”ใคใฎใƒใƒˆใ‚ฏใƒญใƒผใƒ ้…ต็ด ๏ผˆP450๏ผ‰ใจ3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผใฎๅ…ญใคใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใจใ—ใฆๅ…ญใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ“ใจใซใชใ‚‹ใ€‚ใ“ใฎใ†ใกใ€็‰นใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Šใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTH๏ผˆๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผ‰ใŒ้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹็ตๆžœๅ‰ฏ่…ŽใŒ้Žๅฝขๆˆใ‚’ๆฅใ™ใ‚‚ใฎใ‚’ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใจๅ‘ผใถใ€‚ใ“ใ‚Œใซใฏใ€ใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ใ€21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผ๏ผˆ3ฮฒ-HSD๏ผ‰ๆฌ ๆ็—‡ใฎไบ”ใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใ€้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใŒใงใใชใ„ใ‚‚ใฎใงใ€้Žๅ‰ฐใชACTHๅˆ†ๆณŒ้Žๅ‰ฐใ‚’ๆฅใ•ใชใ„ใ‚‚ใฎใจใ—ใฆ18-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚้…็™บๅž‹ใ‚’็คบใ™ใ‚‚ใฎใฏ21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใงใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ›ดใซๆœ€่ฟ‘ใงใฏใ€21ๆฐด้…ธๅŒ–้…ต็ด ใ€17ฮฑๆฐด้…ธๅŒ–้…ต็ด ๆดปๆ€งใŒใจใ‚‚ใซไฝŽไธ‹ใ—ใ€้ชจๅฅ‡ๅฝขใ‚’ไผดใ†้…ต็ด ๆฌ ๆ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผˆP450 ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€‚ + NANDO:1200396 + Congenital adrenal enzyme deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ - + Congenial adrenal cortex enzyme deficiency Congenital adrenal hyperplasia - ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ - - 81 - 1200397 - - Congenital Lipoid Adrenal Hyperplasia - ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ + + 81 + NANDO:1200397 + + Congenital lipoid adrenal hyperplasia + ใ‚Šใฝใ„ใฉใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ + - - + + + ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ - ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ + ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ - - 81 - 1200398 - - 3ฮฒ-Hydroxysteroid Dehydrogenase Deficiency + + 81 + NANDO:1200398 + + 3-ฮฒ-Hydroxysteroid dehydrogenase deficiency 3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + 3ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - - ๏ผ“ฮฒ-HSDๆฌ ๆ็—‡ + + + 3-HSDๆฌ ๆ็—‡ + 3-beta-Hydroxysteroid dehydrogenase deficiency + 3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผๆฌ ๆ็—‡ + 3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 81 - 1200399 - + + 81 + NANDO:1200399 + 21-Hydroxylase deficiency 21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + 21ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + 21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 81 - 1200400 - - 11ฮฒ-Hydroxylase deficiency + + 81 + NANDO:1200400 + + 11-ฮฒ-Hydroxylase deficiency 11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + 11ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - - + + + 11-beta-hydroxylase deficiency + 11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 81 - 1200401 - - 17ฮฑ-Hydroxylase deficiency + + 81 + NANDO:1200401 + + 17-ฮฑ-Hydroxylase deficiency 17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + 17ใ‚ใ‚‹ใตใใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + + + 17-alpha-hydroxylase deficiency + 17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 81 - 1200402 - - P450 Oxidoreductase deficiency - P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + 81 + NANDO:1200402 + + P450 oxidoreductase deficiency + P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ + ใดใƒผ450ใ•ใ‚“ใ‹ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - - + + + P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + PORD PORๆฌ ๆ็—‡ - P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ - - 82 - ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ใฏใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ - 1200403 - + + 82 + ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ใฏใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ + NANDO:1200403 + Congenital adrenal hypoplasia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ + - - - X-linked congenital adrenal hypoplasia + + + ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ - - 82 - 1200404 - + + 82 + NANDO:1200404 + DAX-1็•ฐๅธธ็—‡ DAX1 abnormality + ใ ใฃใใ™1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + X-linked congenital adrenal hypoplasia + X้€ฃ้Ž–ๆ€งๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ + DAX-1็•ฐๅธธ็—‡ - - 82 - 1200405 - + + 82 + NANDO:1200405 + SF-1 abnormality SF-1็•ฐๅธธ็—‡ + ใˆใ™ใˆใต1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - - + + SF-1/Ad4BP็•ฐๅธธ็—‡ + SF-1็•ฐๅธธ็—‡ - - 82 - 1200406 - - IMAGe syndrome + + 82 + NANDO:1200406 + + IMAge syndrome IMAge็—‡ๅ€™็พค + ใ„ใ‚ใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - - + + IMAge็—‡ๅ€™็พค - - 82 - 1200407 - + + 82 + NANDO:1200407 + ACTH unresponsiveness - ACTHไธๅฟœ็—‡ + ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ† + ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ + + - - - ACTHไธๅฟœ็—‡ + + + ACTHไธๅฟœ็—‡ + Adrenocorticotropic hormone insensitivity + Adrenocorticotropic hormone unresponsiveness + Adrenocorticotropin unresponsiveness + ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ - - 82 - 1200408 - + + 82 + NANDO:1200408 + MC2R deficiency MC2R็•ฐๅธธ็—‡ + ใˆใ‚€ใ—ใƒผ2ใ‚ใƒผใ‚‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - - + + + MC2R็•ฐๅธธ็—‡ - - 82 - 1200409 - + + 82 + NANDO:1200409 + MRAP deficiency MRAP็•ฐๅธธ็—‡ + ใˆใ‚€ใ‚ใƒผใ‚‹ใˆใƒผใดใƒผใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - - + + + MRAP็•ฐๅธธ็—‡ - - 82 - 1200410 - - Allgrove Syndrome + + 82 + NANDO:1200410 + + Allgrove syndrome Allgrove็—‡ๅ€™็พค + ใŠใƒผใ‚‹ใใ‚ใƒผใถใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - - + + Triple A syndrome TripleA็—‡ๅ€™็พค Allgrove็—‡ๅ€™็พค - - 83 - ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏใ€1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ‚ขใ‚ธใ‚ฝใƒณ๏ผˆAddison๏ผ‰็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œใ€่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200411 - - Addison's Disease + + 83 + ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏใ€1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ‚ขใ‚ธใ‚ฝใƒณ๏ผˆAddison๏ผ‰็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œใ€่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200411 + + Addison's disease + ใ‚ใ˜ใใ‚“ใณใ‚‡ใ† ใ‚ขใ‚ธใ‚ฝใƒณ็—… + - - + + Addison disease + Addison็—… Primary chronic adrenocortical insufficiency ใ‚ขใ‚ธใ‚ฝใƒณ็—… - - 83 - 1200412 - - Autoimmune Addison disease + + 83 + NANDO:1200412 + + Autoimmune Addison's disease + ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†๏ผˆใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใตใใ˜ใ‚“ใˆใ‚“๏ผ‰ ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰ - - + + ็‰น็™บๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—… ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰ - - 83 - 1200413 - + + 83 + NANDO:1200413 + Tuberculous Addison's disease + ใ‘ใฃใ‹ใใ›ใ„ใ‚ใ˜ใใ‚“ใณใ‚‡ใ† ็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—… - - + + ็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—… - - 83 - 1200414 - - Infectious Addison's diseas + + 83 + NANDO:1200414 + + Infectious Addison's disease + ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†๏ผˆใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†๏ผ‰ ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰ - - + + ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰ - - 84 - ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅŽŸๅ› ไธๆ˜Žใฎๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‹ฅๅนด่€…ใ‹ใ‚‰้ซ˜้ฝข่€…ใพใง็™บ็—‡ใ™ใ‚‹ใ€‚็™บ็—…ๆ™‚ใฎ่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ€ใใฎๅพŒใฎ่‡จๅบŠ็ตŒ้ŽใŒๅคšๆง˜ใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚่‚บ้–€็ธฆ้š”ใƒชใƒณใƒ‘็ฏ€ใ€่‚บใ€็œผใ€็šฎ่†šใฎ็ฝนๆ‚ฃ้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€็ฅž็ตŒใ€็ญ‹ใ€ๅฟƒ่‡“ใ€่…Ž่‡“ใ€้ชจใ€ๆถˆๅŒ–ๅ™จใชใฉๅ…จ่บซใฎใปใจใ‚“ใฉใฎ่‡“ๅ™จใง็ฝนๆ‚ฃใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏๆคœ่จบใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถใฎใ‚‚ใฎใŒๅคšใ่‡ช็„ถๆ”นๅ–„ไพ‹ใ‚‚ๅคšใ‹ใฃใŸใŒใ€่ฟ‘ๅนดใฏ่‡ช่ฆš็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ‚‚ใฎใŒๅข—ๅŠ ใ—ใฆ็ตŒ้Žใ‚‚้•ทๅผ•ใไพ‹ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ไนพ้…ชๅฃŠๆญปใ‚’ไผดใ‚ใชใ„้กžไธŠ็šฎ็ดฐ่ƒž่‚‰่Šฝ่…ซใฎ่จผๆ˜ŽใŒใ‚ใ‚Œใฐ็ต„็น”่จบๆ–ญ็พคใจใชใ‚‹ใŒใ€็ต„็น”็”Ÿๆคœใซใ‚ˆใ‚‹่จบๆ–ญใŒๅพ—ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใซใฏ่‡จๅบŠ่จบๆ–ญ็พคๅˆใฏ็–‘่จบ็พคใจใชใ‚‹ใ€‚่‚บใ€ๅฟƒ่‡“ใ€็œผใ€็ฅž็ตŒใ€่…Ž่‡“ใชใฉ็”Ÿๅ‘ฝไบˆๅพŒใƒปๆฉŸ่ƒฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใงใฏใ€ๅๅˆ†ใชๆฒป็™‚ใจ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 1200415 - + + 84 + ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅŽŸๅ› ไธๆ˜Žใฎๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‹ฅๅนด่€…ใ‹ใ‚‰้ซ˜้ฝข่€…ใพใง็™บ็—‡ใ™ใ‚‹ใ€‚็™บ็—…ๆ™‚ใฎ่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ€ใใฎๅพŒใฎ่‡จๅบŠ็ตŒ้ŽใŒๅคšๆง˜ใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚่‚บ้–€็ธฆ้š”ใƒชใƒณใƒ‘็ฏ€ใ€่‚บใ€็œผใ€็šฎ่†šใฎ็ฝนๆ‚ฃ้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€็ฅž็ตŒใ€็ญ‹ใ€ๅฟƒ่‡“ใ€่…Ž่‡“ใ€้ชจใ€ๆถˆๅŒ–ๅ™จใชใฉๅ…จ่บซใฎใปใจใ‚“ใฉใฎ่‡“ๅ™จใง็ฝนๆ‚ฃใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏๆคœ่จบใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถใฎใ‚‚ใฎใŒๅคšใ่‡ช็„ถๆ”นๅ–„ไพ‹ใ‚‚ๅคšใ‹ใฃใŸใŒใ€่ฟ‘ๅนดใฏ่‡ช่ฆš็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ‚‚ใฎใŒๅข—ๅŠ ใ—ใฆ็ตŒ้Žใ‚‚้•ทๅผ•ใไพ‹ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ไนพ้…ชๅฃŠๆญปใ‚’ไผดใ‚ใชใ„้กžไธŠ็šฎ็ดฐ่ƒž่‚‰่Šฝ่…ซใฎ่จผๆ˜ŽใŒใ‚ใ‚Œใฐ็ต„็น”่จบๆ–ญ็พคใจใชใ‚‹ใŒใ€็ต„็น”็”Ÿๆคœใซใ‚ˆใ‚‹่จบๆ–ญใŒๅพ—ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใซใฏ่‡จๅบŠ่จบๆ–ญ็พคๅˆใฏ็–‘่จบ็พคใจใชใ‚‹ใ€‚่‚บใ€ๅฟƒ่‡“ใ€็œผใ€็ฅž็ตŒใ€่…Ž่‡“ใชใฉ็”Ÿๅ‘ฝไบˆๅพŒใƒปๆฉŸ่ƒฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใงใฏใ€ๅๅˆ†ใชๆฒป็™‚ใจ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200415 + Sarcoidosis + ใ•ใ‚‹ใ“ใ„ใฉใƒผใ—ใ™ ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น - + - - - + + ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น - - 85 - ้–“่ณชๆ€ง่‚บ็‚Žใจใฏใ€่ƒธ้ƒจX็ทšๅ†™็œŸใ‚„CT็”ปๅƒใซใฆไธกๅดใณใพใ‚“ๆ€งใฎ้™ฐๅฝฑใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎใ†ใกใ€่‚บใฎ้–“่ณชใ‚’็‚Ž็—‡ใ‚„็ทš็ถญๅŒ–็—…ๅค‰ใฎๅ ดใจใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้–“่ณชๆ€ง่‚บ็‚ŽใฎๅŽŸๅ› ใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€่ทๆฅญใƒป็’ฐๅขƒๆ€งใ‚„่–ฌๅ‰คใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใชใ‚‚ใฎใ‚„ใ€่† ๅŽŸ็—…ใƒปใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎๅ…จ่บซๆ€ง็–พๆ‚ฃใซไป˜้šใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใจใ‚‚ใซใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆIIPs๏ผ‰ใฏๅŽŸๅ› ใ‚’็‰นๅฎšใ—ใˆใชใ„้–“่ณชๆ€ง่‚บ็‚Žใฎ็ท็งฐใงใ‚ใ‚Šใ€็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡๏ผˆIPF๏ผ‰ใชใฉใฎ๏ผ—็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 1200416 - + + 85 + ้–“่ณชๆ€ง่‚บ็‚Žใจใฏใ€่ƒธ้ƒจX็ทšๅ†™็œŸใ‚„CT็”ปๅƒใซใฆไธกๅดใณใพใ‚“ๆ€งใฎ้™ฐๅฝฑใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎใ†ใกใ€่‚บใฎ้–“่ณชใ‚’็‚Ž็—‡ใ‚„็ทš็ถญๅŒ–็—…ๅค‰ใฎๅ ดใจใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้–“่ณชๆ€ง่‚บ็‚ŽใฎๅŽŸๅ› ใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€่ทๆฅญใƒป็’ฐๅขƒๆ€งใ‚„่–ฌๅ‰คใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใชใ‚‚ใฎใ‚„ใ€่† ๅŽŸ็—…ใƒปใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎๅ…จ่บซๆ€ง็–พๆ‚ฃใซไป˜้šใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใจใ‚‚ใซใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆIIPs๏ผ‰ใฏๅŽŸๅ› ใ‚’็‰นๅฎšใ—ใˆใชใ„้–“่ณชๆ€ง่‚บ็‚Žใฎ็ท็งฐใงใ‚ใ‚Šใ€็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡๏ผˆIPF๏ผ‰ใชใฉใฎ๏ผ—็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200416 + Idiopathic interstitial pneumonia + ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ ็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž + - + + IIPs ็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž - - 85 - 1200417 - + + 85 + NANDO:1200417 + Idiopathic pulmonary fibrosis + ใจใใฏใคใ›ใ„ใฏใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡ - + + IPF IPF ็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡ - - 85 - 1200418 - + + 85 + NANDO:1200418 + IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž + interstitial pneumonia other than IPF + ใ‚ใ„ใดใƒผใˆใตใ„ใŒใ„ใฎใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ - - - - 85 - 1200419 - - NSIP - nonspecific interstitial pneumonia + + IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž + + + 85 + NANDO:1200419 + + non-specific interstitial pneumonia + ใฒใจใใ„ใฆใใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ + ้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž - - ้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž + + NSIP + NSIP - NSIP + ้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž - - 85 - 1200420 - - AIP + + 85 + NANDO:1200420 + acute interstitial pneumonia + ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ + ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž - - ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž + + AIP + AIP - AIP + ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž - - 85 - 1200421 - - COP + + 85 + NANDO:1200421 + Cryptogenic organizing pneumonia + ใจใใฏใคใ›ใ„ใใ—ใคใ‹ใฏใ„ใˆใ‚“ + ็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž - - - ็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž + + + COP + COP - COP - - - 85 - 1200422 - - DIP - desquamative interstitial pneumonia + ็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž + + + 85 + NANDO:1200422 + + Desquamative interstitial pneumonia + ใฏใใ‚ŠใŒใŸใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ + ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž - - ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž + + DIP + DIP - DIP + ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž - - 85 - 1200423 - - RB-ILD + + 85 + NANDO:1200423 + Respiratory bronchiolitis-associated interstitial lung disease + ใ“ใใ‚…ใ†ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ + ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž - - - ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž + + + RB-ILD + RBILD - RB-ILD + ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž - - 85 - 1200424 - - LIP + + 85 + NANDO:1200424 + Lymphoid interstitial pneumonia + ใ‚Šใ‚“ใฑใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ + ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž - - - ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž + + + LIP - LIP + ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž - - 86 - ๆ—งๆฅใฎๅ…ธๅž‹็š„ใช๏ผˆ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰IPAH๏ผ๏ผˆ้บไผๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰HPAHใฏใ€ๆฅตใ‚ใฆใพใ‚Œใชใ€็‰นใซๅŽŸๅ› ใจๆ€ใ‚ใ‚Œใ‚‹ๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„้ซ˜ๅบฆใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš1.7ใจๅฅณๆ€งใซๅคšใใ€็™บ็—‡ๅนด้ฝขใ‚‚่‹ฅๅนดใงใ€ๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ100ไธ‡ไบบใซ๏ผ‘๏ฝž๏ผ’ไบบใจ็จ€ใช็–พๆ‚ฃใงใ€ๆฒป็™‚ไป‹ๅ…ฅใ‚’่กŒใ‚ใชใ‹ใฃใŸๅ ดๅˆใ€่จบๆ–ญใ‹ใ‚‰ใฎๅนณๅ‡็”Ÿๅญ˜ๆœŸ้–“ใŒ2.8ๅนดใจ้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใฃใŸใ€‚ใ—ใ‹ใ—ใ€ๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏๅฐๅ…ๆœŸใซใ‚‚ๅฅฝ็™บๅนด้ฝขๅธฏใŒๅญ˜ๅœจใ—ใ€ใ“ใฎๆ™‚ๆœŸใฎ็™บ็—‡ไพ‹ใงใฏๆ€งๅทฎใฏใชใ„ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใใŸใ€‚ๆœฌ็—‡ใฏใ“ใ‚Œใพใงๆฒป็™‚ๆณ•ใŒ็š†็„กใงใ‚ใฃใŸใŒใ€1990ๅนดไปฅ้™ใซๆฌกใ€…ใจๆฒป็™‚่–ฌใŒ้–‹็™บใ•ใ‚Œใ€็พๆ™‚็‚นใงใฏไฝœ็”จๆฉŸๅบใฎ็•ฐใชใ‚‹๏ผ“็จฎ้กžใฎๆฒป็™‚่–ฌใŒๅญ˜ๅœจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅ˜ๅ‰คใพใŸใฏ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Š็”Ÿๅ‘ฝไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใŸใ€‚ใ—ใ‹ใ—ใ€่–ฌๅ‰คๆŠตๆŠ—ๆ€งใฎไพ‹ใงใฏใ€้ฉๅˆ‡ใชๆ™‚ๆœŸใซ่‚บ็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 1200425 - + + 86 + ๆ—งๆฅใฎๅ…ธๅž‹็š„ใช๏ผˆ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰IPAH๏ผ๏ผˆ้บไผๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰HPAHใฏใ€ๆฅตใ‚ใฆใพใ‚Œใชใ€็‰นใซๅŽŸๅ› ใจๆ€ใ‚ใ‚Œใ‚‹ๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„้ซ˜ๅบฆใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš1.7ใจๅฅณๆ€งใซๅคšใใ€็™บ็—‡ๅนด้ฝขใ‚‚่‹ฅๅนดใงใ€ๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ100ไธ‡ไบบใซ๏ผ‘๏ฝž๏ผ’ไบบใจ็จ€ใช็–พๆ‚ฃใงใ€ๆฒป็™‚ไป‹ๅ…ฅใ‚’่กŒใ‚ใชใ‹ใฃใŸๅ ดๅˆใ€่จบๆ–ญใ‹ใ‚‰ใฎๅนณๅ‡็”Ÿๅญ˜ๆœŸ้–“ใŒ2.8ๅนดใจ้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใฃใŸใ€‚ใ—ใ‹ใ—ใ€ๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏๅฐๅ…ๆœŸใซใ‚‚ๅฅฝ็™บๅนด้ฝขๅธฏใŒๅญ˜ๅœจใ—ใ€ใ“ใฎๆ™‚ๆœŸใฎ็™บ็—‡ไพ‹ใงใฏๆ€งๅทฎใฏใชใ„ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใใŸใ€‚ๆœฌ็—‡ใฏใ“ใ‚Œใพใงๆฒป็™‚ๆณ•ใŒ็š†็„กใงใ‚ใฃใŸใŒใ€1990ๅนดไปฅ้™ใซๆฌกใ€…ใจๆฒป็™‚่–ฌใŒ้–‹็™บใ•ใ‚Œใ€็พๆ™‚็‚นใงใฏไฝœ็”จๆฉŸๅบใฎ็•ฐใชใ‚‹๏ผ“็จฎ้กžใฎๆฒป็™‚่–ฌใŒๅญ˜ๅœจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅ˜ๅ‰คใพใŸใฏ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Š็”Ÿๅ‘ฝไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใŸใ€‚ใ—ใ‹ใ—ใ€่–ฌๅ‰คๆŠตๆŠ—ๆ€งใฎไพ‹ใงใฏใ€้ฉๅˆ‡ใชๆ™‚ๆœŸใซ่‚บ็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:1200425 + Pulmonary arterial hypertension + ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - + - - + + + PAH - ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - - 87 - ่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผˆpulmonary veno-occlusive disease๏ผšPVOD๏ผ‰ใฏๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‚บๅ†…ใฎ้™่„ˆใŒไธปใช็—…ๅค‰้ƒจไฝใงใ‚ใ‚Šใ€่‚บ้™่„ˆใฎๅ†…่†œ่‚ฅๅŽšใ‚„็ทš็ถญๅŒ–็ญ‰ใซใ‚ˆใ‚‹้–‰ๅกžใ‚’่ชใ‚ใ‚‹ใ€‚่‚บๆฏ›็ดฐ็ฎก่…ซ็—‡๏ผˆpulmonary capillary hemangiomatosis๏ผšPCH๏ผ‰ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซ่‚บ่ƒžๅฃใฎๆฏ›็ดฐ็ฎกๅข—็”Ÿใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไธก็–พๆ‚ฃใจใ‚‚ใซ่‚บๅ†…ใฎ้™่„ˆ้–‰ๅกžใ‚’็”Ÿใ˜ใ€่‚บ้™่„ˆไธญๆžขๅดใงใ‚ใ‚‹่‚บๅ‹•่„ˆใฎ่ก€ๅœง๏ผˆ่‚บๅ‹•่„ˆๅœง๏ผ‰ใฎๆŒ็ถš็š„ใชไธŠๆ˜‡ใ‚’ๆฅใŸใ™ใ“ใจใซใชใ‚‹ใ€‚ใใฎใŸใ‚ใ€่‡จๅบŠ็š„ใซใฏไธก่€…ใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็—…ๆ…‹็š„ใซใฏไป–ใฎ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆpulmonary arterial hypertension๏ผšPAH๏ผ‰ใจ้กžไผผใ—ใฆใŠใ‚Šใ€ไธ€่ˆฌๅ†…็ง‘่จบ็™‚ใซใŠใ„ใฆ่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰ใ ใ‘ใงใฏPVOD/PCHใ‚’็–‘ใ†ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏ่ƒธ้ƒจCTๅƒใซใŠใ„ใฆใ€ใ™ใ‚Šใ‚ฌใƒฉใ‚น็Šถ้™ฐๅฝฑใ€ๅฐ่‘‰้–“้š”ๅฃใฎ่‚ฅๅŽšใชใฉใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใฏ็พๅœจใงใ‚‚่‚บ็ต„็น”ใ‹ใ‚‰ใฎ็—…็†็ต„็น”่จบๆ–ญใงใฎใฟๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๅคšใใ€ๆญฃ็ขบใช็™บ็—‡ๆ•ฐใฏๆŠŠๆกใ•ใ‚Œใฆใ„ใชใ„ใฎใŒ็พ็Šถใงใ‚ใ‚‹ใ€‚PVOD/PCHใฏใ‚ใ‚‰ใ‚†ใ‚‹ๅนดไปฃใซ็™บ็—‡ใ—ใ€ๅ–ซ็…™่€…ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบไพ‹ใงใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚15ๆญณๆœชๆบ€ใฎ็—‡ไพ‹ใงใฏ็”ทๅฅณๅทฎใฏ็„กใ„ใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200426 - - Pulmonary Veno-Occlusive Disease / Pulmonary Capillary Hemangiomatosis + + 87 + ่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผˆpulmonary veno-occlusive disease๏ผšPVOD๏ผ‰ใฏๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‚บๅ†…ใฎ้™่„ˆใŒไธปใช็—…ๅค‰้ƒจไฝใงใ‚ใ‚Šใ€่‚บ้™่„ˆใฎๅ†…่†œ่‚ฅๅŽšใ‚„็ทš็ถญๅŒ–็ญ‰ใซใ‚ˆใ‚‹้–‰ๅกžใ‚’่ชใ‚ใ‚‹ใ€‚่‚บๆฏ›็ดฐ็ฎก่…ซ็—‡๏ผˆpulmonary capillary hemangiomatosis๏ผšPCH๏ผ‰ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซ่‚บ่ƒžๅฃใฎๆฏ›็ดฐ็ฎกๅข—็”Ÿใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไธก็–พๆ‚ฃใจใ‚‚ใซ่‚บๅ†…ใฎ้™่„ˆ้–‰ๅกžใ‚’็”Ÿใ˜ใ€่‚บ้™่„ˆไธญๆžขๅดใงใ‚ใ‚‹่‚บๅ‹•่„ˆใฎ่ก€ๅœง๏ผˆ่‚บๅ‹•่„ˆๅœง๏ผ‰ใฎๆŒ็ถš็š„ใชไธŠๆ˜‡ใ‚’ๆฅใŸใ™ใ“ใจใซใชใ‚‹ใ€‚ใใฎใŸใ‚ใ€่‡จๅบŠ็š„ใซใฏไธก่€…ใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็—…ๆ…‹็š„ใซใฏไป–ใฎ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆpulmonary arterial hypertension๏ผšPAH๏ผ‰ใจ้กžไผผใ—ใฆใŠใ‚Šใ€ไธ€่ˆฌๅ†…็ง‘่จบ็™‚ใซใŠใ„ใฆ่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰ใ ใ‘ใงใฏPVOD/PCHใ‚’็–‘ใ†ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏ่ƒธ้ƒจCTๅƒใซใŠใ„ใฆใ€ใ™ใ‚Šใ‚ฌใƒฉใ‚น็Šถ้™ฐๅฝฑใ€ๅฐ่‘‰้–“้š”ๅฃใฎ่‚ฅๅŽšใชใฉใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใฏ็พๅœจใงใ‚‚่‚บ็ต„็น”ใ‹ใ‚‰ใฎ็—…็†็ต„็น”่จบๆ–ญใงใฎใฟๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๅคšใใ€ๆญฃ็ขบใช็™บ็—‡ๆ•ฐใฏๆŠŠๆกใ•ใ‚Œใฆใ„ใชใ„ใฎใŒ็พ็Šถใงใ‚ใ‚‹ใ€‚PVOD/PCHใฏใ‚ใ‚‰ใ‚†ใ‚‹ๅนดไปฃใซ็™บ็—‡ใ—ใ€ๅ–ซ็…™่€…ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบไพ‹ใงใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚15ๆญณๆœชๆบ€ใฎ็—‡ไพ‹ใงใฏ็”ทๅฅณๅทฎใฏ็„กใ„ใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200426 + + Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis + ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใใใ—ใ‚‡ใ†๏ผใฏใ„ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ† ่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡ - - + + + PVOD / PCH + Pulmonary veno-occlusive disease / pulmonary capillary haemangiomatosis Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis ่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡ - - 87 - 1200427 - - Pulmonary Veno-Occlusive Disease + + 87 + NANDO:1200427 + + Pulmonary veno-occlusive disease + ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใใใ—ใ‚‡ใ† ่‚บ้™่„ˆ้–‰ๅกž็—‡ - - + + + PVOD ่‚บ้™่„ˆ้–‰ๅกž็—‡ - - 87 - 1200428 - - Pulmonary Capillary Hemangiomatosis + + 87 + NANDO:1200428 + + Pulmonary capillary hemangiomatosis + ใฏใ„ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ† ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡ - - - - + + + PCH + Pulmonary capillary haemangiomatosis ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡ - - 88 - ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใจใฏใ€ๅ™จ่ณชๅŒ–ใ—ใŸ่ก€ๆ “ใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใŒ้–‰ๅกžใ—ใ€่‚บ่ก€ๆตๅˆ†ๅธƒๅŠใณ่‚บๅพช็’ฐๅ‹•ๆ…‹ใฎ็•ฐๅธธใŒ๏ผ–ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅ›บๅฎšใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใซใŠใ„ใฆใ€ๅนณๅ‡่‚บๅ‹•่„ˆๅœงใŒ25mmHgไปฅไธŠใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ไพ‹ใ‚’ใ€ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆchronic thromoboembolic pulmonary hypertension๏ผšCTEPH๏ผ‰ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ€ๆ—งๆฅๅŽš็”ŸๅŠดๅƒ็œใŒๆŒ‡ๅฎšใ™ใ‚‹ๆฒป็™‚็ตฆไป˜ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ็‰น็™บๆ€งๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡๏ผˆ่‚บ้ซ˜่ก€ๅœงๅž‹๏ผ‰ใจใ„ใ†ๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€2009ๅนด10ๆœˆใ€ใƒ€ใƒŠใƒใ‚คใƒณใƒˆๅˆ†้กžใซๅˆใ‚ใ›ใฆๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚Œใ€CTEPHใซ็ตฑไธ€ใ•ใ‚ŒใŸใ€‚ - 1200429 - + + 88 + ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใจใฏใ€ๅ™จ่ณชๅŒ–ใ—ใŸ่ก€ๆ “ใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใŒ้–‰ๅกžใ—ใ€่‚บ่ก€ๆตๅˆ†ๅธƒๅŠใณ่‚บๅพช็’ฐๅ‹•ๆ…‹ใฎ็•ฐๅธธใŒ๏ผ–ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅ›บๅฎšใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใซใŠใ„ใฆใ€ๅนณๅ‡่‚บๅ‹•่„ˆๅœงใŒ25mmHgไปฅไธŠใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ไพ‹ใ‚’ใ€ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆchronic thromoboembolic pulmonary hypertension๏ผšCTEPH๏ผ‰ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ€ๆ—งๆฅๅŽš็”ŸๅŠดๅƒ็œใŒๆŒ‡ๅฎšใ™ใ‚‹ๆฒป็™‚็ตฆไป˜ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ็‰น็™บๆ€งๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡๏ผˆ่‚บ้ซ˜่ก€ๅœงๅž‹๏ผ‰ใจใ„ใ†ๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€2009ๅนด10ๆœˆใ€ใƒ€ใƒŠใƒใ‚คใƒณใƒˆๅˆ†้กžใซๅˆใ‚ใ›ใฆๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚Œใ€CTEPHใซ็ตฑไธ€ใ•ใ‚ŒใŸใ€‚ + NANDO:1200429 + Chronic thromboembolic pulmonary hypertension + ใพใ‚“ใ›ใ„ใ‘ใฃใ›ใ‚“ใใใ›ใ‚“ใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ† ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - - + + + CTEPH ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - - 89 - ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใฏใ€ๅนณๆป‘็ญ‹ๆง˜ใฎ่…ซ็˜็ดฐ่ƒž๏ผˆLAM็ดฐ่ƒž๏ผ‰ใŒๅข—ๆฎ–ใ—ใ€่‚บใซๅคš็™บๆ€งๅšข่ƒžใ‚’ๅฝขๆˆใ™ใ‚‹ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‹ใคๅ…จ่บซๆ€งใฎ่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆTSC๏ผ‰ใซไผดใฃใฆ็™บ็”Ÿใ™ใ‚‹TSC-LAMใจใ€ๅ˜็‹ฌใง็™บ็”Ÿใ™ใ‚‹ๅญค็™บๆ€งLAMใจใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธปใจใ—ใฆๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎๅฅณๆ€งใซ็™บ็—‡ใ—ใ€้€ฒ่กŒใซไผดใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ€ๅ’ณๅ—ฝใ€่ก€็—ฐใ€ไนณใณ่ƒธๆฐดใชใฉใฎ็—‡็Šถใ‚„ๆ‰€่ฆ‹ใŒๅ‡บ็พใ—ใ€่‡ช็„ถๆฐ—่ƒธใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…Ž่‡“ใชใฉใซ่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บ็—…ๅค‰ใŒ้€ฒ่กŒใ™ใ‚‹ใจๅ‘ผๅธๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้€ฒ่กŒใฎ้€Ÿใ•ใฏ็—‡ไพ‹ใ”ใจใซๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ - 1200430 - + + 89 + ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใฏใ€ๅนณๆป‘็ญ‹ๆง˜ใฎ่…ซ็˜็ดฐ่ƒž๏ผˆLAM็ดฐ่ƒž๏ผ‰ใŒๅข—ๆฎ–ใ—ใ€่‚บใซๅคš็™บๆ€งๅšข่ƒžใ‚’ๅฝขๆˆใ™ใ‚‹ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‹ใคๅ…จ่บซๆ€งใฎ่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆTSC๏ผ‰ใซไผดใฃใฆ็™บ็”Ÿใ™ใ‚‹TSC-LAMใจใ€ๅ˜็‹ฌใง็™บ็”Ÿใ™ใ‚‹ๅญค็™บๆ€งLAMใจใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธปใจใ—ใฆๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎๅฅณๆ€งใซ็™บ็—‡ใ—ใ€้€ฒ่กŒใซไผดใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ€ๅ’ณๅ—ฝใ€่ก€็—ฐใ€ไนณใณ่ƒธๆฐดใชใฉใฎ็—‡็Šถใ‚„ๆ‰€่ฆ‹ใŒๅ‡บ็พใ—ใ€่‡ช็„ถๆฐ—่ƒธใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…Ž่‡“ใชใฉใซ่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บ็—…ๅค‰ใŒ้€ฒ่กŒใ™ใ‚‹ใจๅ‘ผๅธๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้€ฒ่กŒใฎ้€Ÿใ•ใฏ็—‡ไพ‹ใ”ใจใซๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ + NANDO:1200430 + Lymphangioleiomyomatosis + ใ‚Šใ‚“ใฑใฟใ‚ƒใใ‹ใ‚“ใใ‚“ใ—ใ‚…ใ—ใ‚‡ใ† ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡ - - - - + + + LAM + LAM ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡ - - 90 - ้บไผๅญๅค‰็•ฐใŒๅŽŸๅ› ใง็ถฒ่†œใฎ่ฆ–็ดฐ่ƒžๅŠใณ่‰ฒ็ด ไธŠ็šฎ็ดฐ่ƒžใŒๅบƒ็ฏ„ใซๅค‰ๆ€งใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆๆœŸใซใฏใ€ๅคœ็›ฒใจ่ฆ–้‡Ž็‹ญ็ช„ใ‚’่‡ช่ฆšใ™ใ‚‹ใ€‚ๅพใ€…ใซ้€ฒ่กŒใ—ใ€่€ๅนดใซ่‡ณใฃใฆ็คพไผš็š„ๅคฑๆ˜Ž๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›็ด„0.1ไปฅไธ‹๏ผ‰ใจใชใ‚‹ไพ‹ใ‚‚ๅคšใ„ใŒใ€็”Ÿๆถฏ่‰ฏๅฅฝใช่ฆ–ๅŠ›ใ‚’ไฟใคไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้€ฒ่กŒใซๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚่ฆ–็ดฐ่ƒžใฎใ†ใกๆ†ไฝ“็ดฐ่ƒžใฎใฟใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใ€ๆ†ไฝ“็ดฐ่ƒžใจ้Œไฝ“็ดฐ่ƒžไธก่€…ใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใจ็งฐใ™ใ‚‹ใ€‚ - 1200431 - + + 90 + ้บไผๅญๅค‰็•ฐใŒๅŽŸๅ› ใง็ถฒ่†œใฎ่ฆ–็ดฐ่ƒžๅŠใณ่‰ฒ็ด ไธŠ็šฎ็ดฐ่ƒžใŒๅบƒ็ฏ„ใซๅค‰ๆ€งใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆๆœŸใซใฏใ€ๅคœ็›ฒใจ่ฆ–้‡Ž็‹ญ็ช„ใ‚’่‡ช่ฆšใ™ใ‚‹ใ€‚ๅพใ€…ใซ้€ฒ่กŒใ—ใ€่€ๅนดใซ่‡ณใฃใฆ็คพไผš็š„ๅคฑๆ˜Ž๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›็ด„0.1ไปฅไธ‹๏ผ‰ใจใชใ‚‹ไพ‹ใ‚‚ๅคšใ„ใŒใ€็”Ÿๆถฏ่‰ฏๅฅฝใช่ฆ–ๅŠ›ใ‚’ไฟใคไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้€ฒ่กŒใซๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚่ฆ–็ดฐ่ƒžใฎใ†ใกๆ†ไฝ“็ดฐ่ƒžใฎใฟใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใ€ๆ†ไฝ“็ดฐ่ƒžใจ้Œไฝ“็ดฐ่ƒžไธก่€…ใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใจ็งฐใ™ใ‚‹ใ€‚ + NANDO:1200431 + Retinitis pigmentosa + ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ + - - - - + + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ - - 90 - 1200432 - + + 90 + NANDO:1200432 + Sporadic retinitis pigmentosa + ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ“ใฏใคใŒใŸ๏ผ‰ ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰ - - + + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰ - - 90 - 1200433 - - autosomal dominant retinitis pigmentosa - ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅญๅž‹๏ผ‰ + + 90 + NANDO:1200433 + + Autosomal dominant retinitis pigmentosa + ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰ + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผ‰ - - - ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅญๅž‹๏ผ‰ - - - 90 - 1200434 - - Autosomal Recessive Retinitis Pigmentosa - ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰ + + + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผ‰ + + + 90 + NANDO:1200434 + + Autosomal recessive retinitis pigmentosa + ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰ + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰ + - - - ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰ - - - 90 - 1200435 - + + + + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰ + + + 90 + NANDO:1200435 + X-linked recessive retinitis pigmentosa - ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰ + ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใˆใฃใใ™ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰ + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰ + + - - - ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰ - - - 90 - 1200436 - + + + + + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰ + + + 90 + NANDO:1200436 + Digenic retinitis pigmentosa + ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใซใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใŒใŸ๏ผ‰ ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰ + - - + + + ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰ - - 91 - ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใฏใ€่‚้™่„ˆใฎไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚ๆœฌ้‚ฆใงใฏไธก่€…ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹็—…ๆ…‹ใŒๅคšใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ไธ‹่…ฟๆตฎ่…ซใ€ไธ‹่‚ข้™่„ˆ็˜คใ€่ƒธ่…นๅฃใฎไธŠ่กŒๆ€ง็šฎไธ‹้™่„ˆๆ€’ๅผตใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅคšใใฏ็™บ็—‡ๆ™‚ๆœŸใŒไธๆ˜Žใงๆ…ขๆ€งใฎ็ตŒ้Ž๏ผˆใ‚ขใ‚ธใ‚ขใซๅคšใ„๏ผ‰ใ‚’ใจใ‚Šใ€ใ†ใฃ่ก€ๆ€ง่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Šๆ€ฅๆ€ง็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆ๏ผˆๆฌง็ฑณใซๅคšใ„๏ผ‰ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ขใ‚ธใ‚ขใงใฏไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใŒๅคšใใ€ๆฌง็ฑณใงใฏ่‚้™่„ˆ้–‰ๅกžใŒๅคšใ„ใ€‚ๅˆ†้กžใจใ—ใฆใ€ๅŽŸ็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจ็ถš็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใŒใ‚ใ‚‹ใ€‚็—…็ŠถใŒ้€ฒ่กŒใ™ใ‚‹ใจ่‚็ดฐ่ƒž็™Œใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚้™่„ˆๆœซๆขขๆžใฎ้ž่ก€ๆ “ๆ€ง้–‰ๅกžใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹้™่„ˆ้–‰ๅกžๆ€ง็–พๆ‚ฃ๏ผˆvenoโ€occlusive disease๏ผ‰ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚ - 1200437 - + + 91 + ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใฏใ€่‚้™่„ˆใฎไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚ๆœฌ้‚ฆใงใฏไธก่€…ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹็—…ๆ…‹ใŒๅคšใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ไธ‹่…ฟๆตฎ่…ซใ€ไธ‹่‚ข้™่„ˆ็˜คใ€่ƒธ่…นๅฃใฎไธŠ่กŒๆ€ง็šฎไธ‹้™่„ˆๆ€’ๅผตใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅคšใใฏ็™บ็—‡ๆ™‚ๆœŸใŒไธๆ˜Žใงๆ…ขๆ€งใฎ็ตŒ้Ž๏ผˆใ‚ขใ‚ธใ‚ขใซๅคšใ„๏ผ‰ใ‚’ใจใ‚Šใ€ใ†ใฃ่ก€ๆ€ง่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Šๆ€ฅๆ€ง็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆ๏ผˆๆฌง็ฑณใซๅคšใ„๏ผ‰ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ขใ‚ธใ‚ขใงใฏไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใŒๅคšใใ€ๆฌง็ฑณใงใฏ่‚้™่„ˆ้–‰ๅกžใŒๅคšใ„ใ€‚ๅˆ†้กžใจใ—ใฆใ€ๅŽŸ็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจ็ถš็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใŒใ‚ใ‚‹ใ€‚็—…็ŠถใŒ้€ฒ่กŒใ™ใ‚‹ใจ่‚็ดฐ่ƒž็™Œใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚้™่„ˆๆœซๆขขๆžใฎ้ž่ก€ๆ “ๆ€ง้–‰ๅกžใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹้™่„ˆ้–‰ๅกžๆ€ง็–พๆ‚ฃ๏ผˆvenoโ€occlusive disease๏ผ‰ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200437 + Budd-Chiari syndrome + ใฐใฃใฉใƒปใใ‚ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค + - - - + + ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค - - 92 - ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใจใฏใ€่‚ๅ†…ๆœซๆขข้–€่„ˆๆžใฎ้–‰ๅกžใ€็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚้€šๅธธใ€่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใฏใชใใ€่‚็ดฐ่ƒž็™Œใฎๆฏๅœฐใซใฏใชใ‚‰ใชใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€้–€่„ˆ่ก€ๆ “ใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅŽš็”ŸๅŠดๅƒ็œ็‰นๅฎš็–พๆ‚ฃ้–€่„ˆ่ก€่กŒ็•ฐๅธธ็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใฎ็ตๆžœใงใฏใ€็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ“ใ€็™บ็—‡ใฎใƒ”ใƒผใ‚ฏใฏ50ๆญณไปฃใงใ€ๅนณๅ‡ๅนด้ฝขใฏ47.0ๆญณ๏ผˆ็”ทๆ€ง39.7ๆญณใ€ๅฅณๆ€ง50.4ๆญณ๏ผ‰ใงใ‚ใ‚‹ใ€‚ - 1200438 - + + 92 + ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใจใฏใ€่‚ๅ†…ๆœซๆขข้–€่„ˆๆžใฎ้–‰ๅกžใ€็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚้€šๅธธใ€่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใฏใชใใ€่‚็ดฐ่ƒž็™Œใฎๆฏๅœฐใซใฏใชใ‚‰ใชใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€้–€่„ˆ่ก€ๆ “ใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅŽš็”ŸๅŠดๅƒ็œ็‰นๅฎš็–พๆ‚ฃ้–€่„ˆ่ก€่กŒ็•ฐๅธธ็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใฎ็ตๆžœใงใฏใ€็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ“ใ€็™บ็—‡ใฎใƒ”ใƒผใ‚ฏใฏ50ๆญณไปฃใงใ€ๅนณๅ‡ๅนด้ฝขใฏ47.0ๆญณ๏ผˆ็”ทๆ€ง39.7ๆญณใ€ๅฅณๆ€ง50.4ๆญณ๏ผ‰ใงใ‚ใ‚‹ใ€‚ + NANDO:1200438 + Idiopathic portal hypertension + ใจใใฏใคใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‚ใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ - - + + Banti syndrome - ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ - - 93 - ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary biliary cholangitis๏ผšPBCใ€‚ๆ—ง็งฐ๏ผšๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰๏ผ‰ใฏ็—…ๅ› ใŒๆœชใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†ๆฑใ†ใฃๆปžใซไผดใ„่‚ๅฎŸ่ณช็ดฐ่ƒžใฎ็ ดๅฃŠใจ็ทš็ถญๅŒ–ใ‚’็”Ÿใ˜ใ€ๆœ€็ต‚็š„ใซใฏ่‚็กฌๅค‰ใ‹ใ‚‰่‚ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่ƒ†ๆฑใ†ใฃๆปžใซไผดใ†ใใ†็—’ๆ„Ÿใ€ๅŠใณ่‡ชๅทฑๆŠ—ไฝ“ใฎ๏ผ‘ใคใงใ‚ใ‚‹ๆŠ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆŠ—ไฝ“๏ผˆAnti-mitochondrial antibodies๏ผšAMA๏ผ‰ใฎ้™ฝๆ€งๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ไธญๅนดไปฅๅพŒใฎๅฅณๆ€งใซๅคšใ„ใ€‚่‡จๅบŠ็—‡็Šถใ‚‚ๅ…จใใฟใ‚‰ใ‚Œใชใ„็„ก็—‡ๅ€™ๆ€งPBCใฎ็—‡ไพ‹ใ‚‚ๅคšใใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏ้•ทๅนด็„ก็—‡็Šถใง็ตŒ้Žใ—ไบˆๅพŒใ‚‚ใ‚ˆใ„ใ€‚ใชใŠใ€ๆœฌ็–พๆ‚ฃใฏไปฅๅ‰ใ€ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ๆœฌ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸๅฝ“ๆ™‚ใฏใ€ๅคงๅคšๆ•ฐใฎ็—‡ไพ‹ใŒ่‚็กฌๅค‰ใพใง้€ฒ่กŒใ—ใŸๆฎต้šŽใง็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใŸใŸใ‚ใ€Œ่‚็กฌๅค‰ใ€ใจใ„ใ†่ชžๅฅใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€่จบๆ–ญใƒปๆฒป็™‚ๆŠ€่ก“ใฎ้€ฒๆญฉใ—ใŸ็พๅœจใงใฏใ€ใปใจใ‚“ใฉใฎๆ‚ฃ่€…ใŒ่‚็กฌๅค‰ใฎ็Šถๆ…‹ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€2016ๅนดใซๆ—ฅๆœฌ่‚่‡“ๅญฆไผšๅŠใณๆ—ฅๆœฌๆถˆๅŒ–ๅ™จ็—…ๅญฆไผšใซใŠใ„ใฆใ€ŒๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Žใ€ใธใฎ็—…ๅๅค‰ๆ›ดใŒๆฑบๅฎšใ•ใ‚ŒใŸใ€‚ - 1200439 - - Primary Biliary Cholangitis + + 93 + ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary biliary cholangitis๏ผšPBCใ€‚ๆ—ง็งฐ๏ผšๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰๏ผ‰ใฏ็—…ๅ› ใŒๆœชใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†ๆฑใ†ใฃๆปžใซไผดใ„่‚ๅฎŸ่ณช็ดฐ่ƒžใฎ็ ดๅฃŠใจ็ทš็ถญๅŒ–ใ‚’็”Ÿใ˜ใ€ๆœ€็ต‚็š„ใซใฏ่‚็กฌๅค‰ใ‹ใ‚‰่‚ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่ƒ†ๆฑใ†ใฃๆปžใซไผดใ†ใใ†็—’ๆ„Ÿใ€ๅŠใณ่‡ชๅทฑๆŠ—ไฝ“ใฎ๏ผ‘ใคใงใ‚ใ‚‹ๆŠ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆŠ—ไฝ“๏ผˆAnti-mitochondrial antibodies๏ผšAMA๏ผ‰ใฎ้™ฝๆ€งๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ไธญๅนดไปฅๅพŒใฎๅฅณๆ€งใซๅคšใ„ใ€‚่‡จๅบŠ็—‡็Šถใ‚‚ๅ…จใใฟใ‚‰ใ‚Œใชใ„็„ก็—‡ๅ€™ๆ€งPBCใฎ็—‡ไพ‹ใ‚‚ๅคšใใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏ้•ทๅนด็„ก็—‡็Šถใง็ตŒ้Žใ—ไบˆๅพŒใ‚‚ใ‚ˆใ„ใ€‚ใชใŠใ€ๆœฌ็–พๆ‚ฃใฏไปฅๅ‰ใ€ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ๆœฌ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸๅฝ“ๆ™‚ใฏใ€ๅคงๅคšๆ•ฐใฎ็—‡ไพ‹ใŒ่‚็กฌๅค‰ใพใง้€ฒ่กŒใ—ใŸๆฎต้šŽใง็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใŸใŸใ‚ใ€Œ่‚็กฌๅค‰ใ€ใจใ„ใ†่ชžๅฅใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€่จบๆ–ญใƒปๆฒป็™‚ๆŠ€่ก“ใฎ้€ฒๆญฉใ—ใŸ็พๅœจใงใฏใ€ใปใจใ‚“ใฉใฎๆ‚ฃ่€…ใŒ่‚็กฌๅค‰ใฎ็Šถๆ…‹ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€2016ๅนดใซๆ—ฅๆœฌ่‚่‡“ๅญฆไผšๅŠใณๆ—ฅๆœฌๆถˆๅŒ–ๅ™จ็—…ๅญฆไผšใซใŠใ„ใฆใ€ŒๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Žใ€ใธใฎ็—…ๅๅค‰ๆ›ดใŒๆฑบๅฎšใ•ใ‚ŒใŸใ€‚ + NANDO:1200439 + + Primary biliary cholangitis + ใ’ใ‚“ใฑใคใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“ ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž - - + + + PBC Primary biliary cirrhosis ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž - - 94 - ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPSC๏ผ‰ใฏใ€่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใฎ็ทš็ถญๆ€ง็‹ญ็ช„ใ‚’็”Ÿใ˜ใ‚‹้€ฒ่กŒๆ€งใฎๆ…ขๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†็ฎก็‚Žใ€AIDSใฎ่ƒ†็ฎก้šœๅฎณใ€่ƒ†็ฎกๆ‚ชๆ€ง่…ซ็˜๏ผˆPSC่จบๆ–ญๅพŒๅŠใณๆ—ฉๆœŸ็™Œใฏไพ‹ๅค–๏ผ‰ใ€่ƒ†้“ใฎๆ‰‹่ก“ใ‚„ๅค–ๅ‚ทใ€็ท่ƒ†็ฎก็ต็Ÿณใ€ๅ…ˆๅคฉๆ€ง่ƒ†้“็•ฐๅธธใ€่…้ฃŸๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ€่ƒ†็ฎกใฎ่™š่ก€ๆ€ง็‹ญ็ช„ใ€floxuridineๅ‹•ๆณจใซใ‚ˆใ‚‹่ƒ†็ฎก้šœๅฎณใ‚„็‹ญ็ช„ใซไผดใ†ใ‚‚ใฎใฏใ€๏ผ’ๆฌกๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใจใ—ใฆ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใซไผดใ†ใ‚‚ใฎใ‚’ๅซใ‚ใฆใ€IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ‚‚้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚2012ๅนดใฎๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใซใ‚ˆใ‚Œใฐใ€้ ปๅบฆใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ็—‡ๅนด้ฝขใฏ20ๆญณใจ60ๆญณไปฃใฎ๏ผ’ๅณฐๆ€งใงใ‚ใ‚‹ใ€‚่‚ๅ†…่‚ๅค–่ƒ†็ฎกไธกๆ–นใฎ็ฝนๆ‚ฃไพ‹ใŒๅคšใใ€ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฎๅˆไฝตใ‚’34๏ผ…ใซใ€่ƒ†็ฎก็™Œใฎๅˆไฝตใ‚’7.3๏ผ…ใซ่ชใ‚ใŸใ€‚ - 1200440 - + + 94 + ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPSC๏ผ‰ใฏใ€่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใฎ็ทš็ถญๆ€ง็‹ญ็ช„ใ‚’็”Ÿใ˜ใ‚‹้€ฒ่กŒๆ€งใฎๆ…ขๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†็ฎก็‚Žใ€AIDSใฎ่ƒ†็ฎก้šœๅฎณใ€่ƒ†็ฎกๆ‚ชๆ€ง่…ซ็˜๏ผˆPSC่จบๆ–ญๅพŒๅŠใณๆ—ฉๆœŸ็™Œใฏไพ‹ๅค–๏ผ‰ใ€่ƒ†้“ใฎๆ‰‹่ก“ใ‚„ๅค–ๅ‚ทใ€็ท่ƒ†็ฎก็ต็Ÿณใ€ๅ…ˆๅคฉๆ€ง่ƒ†้“็•ฐๅธธใ€่…้ฃŸๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ€่ƒ†็ฎกใฎ่™š่ก€ๆ€ง็‹ญ็ช„ใ€floxuridineๅ‹•ๆณจใซใ‚ˆใ‚‹่ƒ†็ฎก้šœๅฎณใ‚„็‹ญ็ช„ใซไผดใ†ใ‚‚ใฎใฏใ€๏ผ’ๆฌกๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใจใ—ใฆ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใซไผดใ†ใ‚‚ใฎใ‚’ๅซใ‚ใฆใ€IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ‚‚้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚2012ๅนดใฎๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใซใ‚ˆใ‚Œใฐใ€้ ปๅบฆใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ็—‡ๅนด้ฝขใฏ20ๆญณใจ60ๆญณไปฃใฎ๏ผ’ๅณฐๆ€งใงใ‚ใ‚‹ใ€‚่‚ๅ†…่‚ๅค–่ƒ†็ฎกไธกๆ–นใฎ็ฝนๆ‚ฃไพ‹ใŒๅคšใใ€ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฎๅˆไฝตใ‚’34๏ผ…ใซใ€่ƒ†็ฎก็™Œใฎๅˆไฝตใ‚’7.3๏ผ…ใซ่ชใ‚ใŸใ€‚ + NANDO:1200440 + Primary sclerosing cholangitis + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“ ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž + - - + + + PSC + PSC ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž - - 95 - ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใฏใ€่‚็ดฐ่ƒž้šœๅฎณใฎๆˆ็ซ‹ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹่‚็‚Žใงใ‚ใ‚Šใ€ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅŽŸๅ‰‡็š„ใซใฏๆ—ข็Ÿฅใฎ่‚็‚Žใ‚ฆใ‚คใƒซใ‚นใ€ใ‚ขใƒซใ‚ณใƒผใƒซใ€่–ฌ็‰ฉใซใ‚ˆใ‚‹่‚้šœๅฎณใ€ๅŠใณไป–ใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซๅŸบใฅใ่‚้šœๅฎณใฏ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€ๆฒป็™‚ใซ้š›ใ—ๅ…็–ซๆŠ‘ๅˆถๅ‰คใ€็‰นใซใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใ‚คใƒ‰ใŒ่‘—ๅŠนใ‚’ๅฅใ™ใ€‚ไธ€ๆ–นใ€ๆœ€่ฟ‘ใฎ่ชฟๆŸปใซใ‚ˆใ‚Šใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใฎๅญ˜ๅœจใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ60ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ€ๅณฐๆ€งใ‚’็คบใ—ใ€ๅคšใใฏไธญๅนดไปฅ้™ใฎ็™บ็—‡ใงใ‚ใ‚Šใ€ๆœ€่ฟ‘้ซ˜้ฝขๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ–ใงๅฅณๆ€งใซๅคšใ„ใ€‚ - 1200441 - + + 95 + ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใฏใ€่‚็ดฐ่ƒž้šœๅฎณใฎๆˆ็ซ‹ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹่‚็‚Žใงใ‚ใ‚Šใ€ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅŽŸๅ‰‡็š„ใซใฏๆ—ข็Ÿฅใฎ่‚็‚Žใ‚ฆใ‚คใƒซใ‚นใ€ใ‚ขใƒซใ‚ณใƒผใƒซใ€่–ฌ็‰ฉใซใ‚ˆใ‚‹่‚้šœๅฎณใ€ๅŠใณไป–ใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซๅŸบใฅใ่‚้šœๅฎณใฏ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€ๆฒป็™‚ใซ้š›ใ—ๅ…็–ซๆŠ‘ๅˆถๅ‰คใ€็‰นใซใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใ‚คใƒ‰ใŒ่‘—ๅŠนใ‚’ๅฅใ™ใ€‚ไธ€ๆ–นใ€ๆœ€่ฟ‘ใฎ่ชฟๆŸปใซใ‚ˆใ‚Šใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใฎๅญ˜ๅœจใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ60ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ€ๅณฐๆ€งใ‚’็คบใ—ใ€ๅคšใใฏไธญๅนดไปฅ้™ใฎ็™บ็—‡ใงใ‚ใ‚Šใ€ๆœ€่ฟ‘้ซ˜้ฝขๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ–ใงๅฅณๆ€งใซๅคšใ„ใ€‚ + NANDO:1200441 + Autoimmune hepatitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“ ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž + - - + + + AIH ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž - - 95 - 1200442 - + + 95 + NANDO:1200442 + + Typical autoimmune hepatitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“๏ผˆใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰ ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰ - - - - - 95 - 1200443 - + + + + ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰ + + + 95 + NANDO:1200443 + + Atypical autoimmune hepatitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“๏ผˆใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰ ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰ - - - - - 96 - ๆœฌ็–พๆ‚ฃใฏๅŽŸๅ› ไธๆ˜Žใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ๆฝฐ็˜ใ‚„็ทš็ถญๅŒ–ใ‚’ไผดใ†่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‹ใ‚‰ใชใ‚Šใ€ๆถˆๅŒ–็ฎกใฎใฉใฎ้ƒจไฝใซใ‚‚่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกไปฅๅค–๏ผˆ็‰นใซ็šฎ่†š๏ผ‰ใซใ‚‚็—…ๅค‰ใŒ่ตทใ“ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅฝ“ๅˆใฎๅ ฑๅ‘Šใงใฏๅ›ž่…ธๆœซ็ซฏใ‚’ไพตใ™๏ผˆๅ›ž่…ธๆœซ็ซฏ็‚Ž๏ผ‰ใจ่จ˜่ผ‰ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎๆถˆๅŒ–็ฎกใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ่ตทใ“ใ‚Šใ†ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚่‡จๅบŠๅƒใฏ็—…ๅค‰ใฎ้ƒจไฝใ‚„็ฏ„ๅ›ฒใซใ‚ˆใฃใฆๅคšๅฝฉใงใ‚ใ‚‹ใ€‚็™บ็†ฑใ€ๆ „้คŠ้šœๅฎณใ€่ฒง่ก€ใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚„้–ข็ฏ€็‚Žใ€่™นๅฝฉ็‚Žใ€่‚้šœๅฎณใชใฉใฎๅ…จ่บซๆ€งๅˆไฝต็—‡ใŒ่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ - 1200444 - - Crohn's Disease + + + ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰ + + + 96 + ๆœฌ็–พๆ‚ฃใฏๅŽŸๅ› ไธๆ˜Žใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ๆฝฐ็˜ใ‚„็ทš็ถญๅŒ–ใ‚’ไผดใ†่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‹ใ‚‰ใชใ‚Šใ€ๆถˆๅŒ–็ฎกใฎใฉใฎ้ƒจไฝใซใ‚‚่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกไปฅๅค–๏ผˆ็‰นใซ็šฎ่†š๏ผ‰ใซใ‚‚็—…ๅค‰ใŒ่ตทใ“ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅฝ“ๅˆใฎๅ ฑๅ‘Šใงใฏๅ›ž่…ธๆœซ็ซฏใ‚’ไพตใ™๏ผˆๅ›ž่…ธๆœซ็ซฏ็‚Ž๏ผ‰ใจ่จ˜่ผ‰ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎๆถˆๅŒ–็ฎกใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ่ตทใ“ใ‚Šใ†ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚่‡จๅบŠๅƒใฏ็—…ๅค‰ใฎ้ƒจไฝใ‚„็ฏ„ๅ›ฒใซใ‚ˆใฃใฆๅคšๅฝฉใงใ‚ใ‚‹ใ€‚็™บ็†ฑใ€ๆ „้คŠ้šœๅฎณใ€่ฒง่ก€ใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚„้–ข็ฏ€็‚Žใ€่™นๅฝฉ็‚Žใ€่‚้šœๅฎณใชใฉใฎๅ…จ่บซๆ€งๅˆไฝต็—‡ใŒ่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ + NANDO:1200444 + + Crohn's disease + ใใ‚ใƒผใ‚“ใณใ‚‡ใ† ใ‚ฏใƒญใƒผใƒณ็—… - + - - - Crohn disease + + + Crohn Disease + Crohn็—… - ใ‚ฏใƒญใƒผใƒณ็—… - - 96 - 1200445 - - Ileal Crohn's disease + + 96 + NANDO:1200445 + + small bowel Crohn disease + ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ† ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - - + + + Small bowel Crohn's disease + ๅฐ่…ธๅž‹Crohn็—… + ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - - 96 - 1200446 - - Colonicย Crohnย Disease + + 96 + NANDO:1200446 + + Colonic Crohn's disease + ใ ใ„ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ† ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - - + + + + ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - - 96 - 1200447 - + + 96 + NANDO:1200447 + Crohn ileocolitis + ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ ใ„ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ† ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - - + + + Crohn's ileocolitis + ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - - 96 - 1200448 - - atypical crohn's disease + + 96 + NANDO:1200448 + + Atypical Crohn's disease + ใจใใ—ใ‚…ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ† ็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - + ็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—… - - 97 - ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฏใ€ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅคง่…ธใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ€‚ๅŒป็ง‘ๅญฆๅ›ฝ้š›็ต„็น”ๅง”ๅ“ก๏ผˆCIOMS๏ผ‰ใงใฏใ€Œไธปใจใ—ใฆ็ฒ˜่†œใจ็ฒ˜่†œไธ‹ๅฑคใ‚’ไพตใ™ใ€ๅคง่…ธ็‰นใซ็›ด่…ธใฎ็‰น็™บๆ€งใ€้ž็‰น็•ฐ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€‚30ๆญณไปฅไธ‹ใฎๆˆไบบใซๅคšใ„ใŒใ€ๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๅนด้ฝขๅฑคใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€ๅ…็–ซ็—…็†ๅญฆ็š„ๆฉŸๅบใ‚„ๅฟƒ็†ๅญฆ็š„่ฆๅ› ใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้€šๅธธ่ก€ๆ€งไธ‹็—ขใจ็จฎใ€…ใฎ็จ‹ๅบฆใฎๅ…จ่บซ็—‡็Šถใ‚’็คบใ™ใ€‚้•ทๆœŸใซใ‚ใŸใ‚Šใ€ใ‹ใคๅคง่…ธๅ…จไฝ“ใ‚’ไพตใ™ๅ ดๅˆใซใฏๆ‚ชๆ€งๅŒ–ใฎๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใฏๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‹ใ‚‰้•ทๆœŸ้–“ใฎๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ - 1200449 - + + 97 + ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฏใ€ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅคง่…ธใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ€‚ๅŒป็ง‘ๅญฆๅ›ฝ้š›็ต„็น”ๅง”ๅ“ก๏ผˆCIOMS๏ผ‰ใงใฏใ€Œไธปใจใ—ใฆ็ฒ˜่†œใจ็ฒ˜่†œไธ‹ๅฑคใ‚’ไพตใ™ใ€ๅคง่…ธ็‰นใซ็›ด่…ธใฎ็‰น็™บๆ€งใ€้ž็‰น็•ฐ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€‚30ๆญณไปฅไธ‹ใฎๆˆไบบใซๅคšใ„ใŒใ€ๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๅนด้ฝขๅฑคใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€ๅ…็–ซ็—…็†ๅญฆ็š„ๆฉŸๅบใ‚„ๅฟƒ็†ๅญฆ็š„่ฆๅ› ใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้€šๅธธ่ก€ๆ€งไธ‹็—ขใจ็จฎใ€…ใฎ็จ‹ๅบฆใฎๅ…จ่บซ็—‡็Šถใ‚’็คบใ™ใ€‚้•ทๆœŸใซใ‚ใŸใ‚Šใ€ใ‹ใคๅคง่…ธๅ…จไฝ“ใ‚’ไพตใ™ๅ ดๅˆใซใฏๆ‚ชๆ€งๅŒ–ใฎๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใฏๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‹ใ‚‰้•ทๆœŸ้–“ใฎๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ + NANDO:1200449 + Ulcerative colitis + ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž - + - - + + - ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž - - 97 - 1200450 - - pan-ulcerative colitis + + 97 + NANDO:1200450 + + Pan-ulcerative colitis + ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใœใ‚“ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰ ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰ - - + + ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰ - - 97 - 1200451 - - left-sided colitis + + 97 + NANDO:1200451 + + Left-sided colitis + ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใฒใ ใ‚ŠใŒใ‚ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰ ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰ - - + + + ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰ - - 97 - 1200452 - + + 97 + NANDO:1200452 + Ulcerative proctitis + ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใกใ‚‡ใใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰ ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰ - + ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰ - - 97 - 1200453 - - Right-sidedย ulcerativeย colitis + + 97 + NANDO:1200453 + + Right-sided ulcerative colitis + ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใฟใŽใŒใ‚ใŒใŸ๏ผ‰ ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰ - - - segmental colitis + + + Segmental colitis ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅˆ†็ฏ€ๅž‹๏ผ‰ ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰ - - 98 - ๆถˆๅŒ–็ฎกใ‚’ไธปๅบงใจใ™ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡็—‡ๅ€™็พค๏ผˆEosinophilic Gastro-Intestinal Disorder๏ผšEGID๏ผ‰ใฏใ€ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž ๏ผˆใ“ใ“ใงใฏๆ—ฅๆœฌใซใŠใ‘ใ‚‹ Food-Protein Induced Enterocolitis Syndrome ใจใ„ใ†ๆ„ๅ‘ณใงN-FPIESใจๅ‘ผใถใ€‚๏ผ‰ใ€ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใ€ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸใฎๆ‚ฃ่€…ใฏใ€1990ๅนดๅฐๆœซใ‹ใ‚‰ๆ€ฅๆฟ€ใซๅข—ๅŠ ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€EGEใฏๆœฌ้‚ฆใซ็‰นใซๆ‚ฃ่€…ใŒๅคšใ„ใ€‚่จบๆ–ญๆณ•ใ€ๆฒป็™‚ๆณ•ใŒ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅคšใใฎๆ‚ฃ่€…ใŒ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž๏ผˆN-FPIES๏ผ‰ใงใฏ10๏ผ…ใฎๆ‚ฃ่€…ใฏใ€็”Ÿๅ‘ฝใซใ‹ใ‹ใ‚ใ‚‹้‡ๅคงใชๅˆไฝต็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใŸใ‚ใ€็ทŠๆ€ฅใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃ็—‡ไพ‹ใฎๅ ดๅˆใ€็—‡็Šถใฏไธ€็”Ÿ็ถšใใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใงใฏใ€ๅšฅไธ‹้šœๅฎณใฎใŸใ‚ใซๆ—ฅๅธธ็”ŸๆดปใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใจใจใ‚‚ใซใ€้•ทๆœŸ็ตŒ้Žไพ‹ใงใฏใ€้ฃŸ้“็‹ญ็ช„ใ‚’่ตทใ“ใ—่ฆณ่ก€็š„ใชๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏ่ƒƒ-ๅคง่…ธใซ่‡ณใ‚‹้‡่ฆใช่‡“ๅ™จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŒใ€ๆฌง็ฑณใงใฏ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญๆฒป็™‚็ ”็ฉถใŒ้€ฒใ‚“ใงใ„ใชใ„ใ€‚ๅคšใใฎๆ‚ฃ่€…ใ‚’ๆŠฑใˆใ‚‹ๆˆ‘ใŒๅ›ฝใง็ ”็ฉถใ‚’้€ฒๆญฉใ•ใ›ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚60๏ผ…็จ‹ๅบฆใฎไพ‹ใงๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งๅŒ–ใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ไพๅญ˜ๆ€งใจใชใ‚‹ใชใฉใ—ใฆ่–ฌๅ‰คๆฒป็™‚ใซใจใ‚‚ใชใ†ๆง˜ใ€…ใชๅ‰ฏไฝœ็”จใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ—ฅๆœฌใงใฏๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏใ€ไปฅๅ‰ใ‹ใ‚‰็—‡ไพ‹ๅ ฑๅ‘ŠใŒๅคšใ„ใŒใ€ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใฏๅฐ‘ใชใ„ใ€‚้€†ใซๆฌง็ฑณใงใฏๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใŒๅคšใใ€EGEใฏๅฐ‘ใชใ„ใ€‚ไธ–็•Œ็š„ใซEGE ใฎ่จบๆ–ญๆฒป็™‚ๆณ•ใซ้–ขใ™ใ‚‹็ ”็ฉถใฏ้…ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200454 - Eosinophilic Gastro-Intestinal Disorder + + 98 + ๆถˆๅŒ–็ฎกใ‚’ไธปๅบงใจใ™ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡็—‡ๅ€™็พค๏ผˆEosinophilic Gastro-Intestinal Disorder๏ผšEGID๏ผ‰ใฏใ€ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž ๏ผˆใ“ใ“ใงใฏๆ—ฅๆœฌใซใŠใ‘ใ‚‹ Food-Protein Induced Enterocolitis Syndrome ใจใ„ใ†ๆ„ๅ‘ณใงN-FPIESใจๅ‘ผใถใ€‚๏ผ‰ใ€ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใ€ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸใฎๆ‚ฃ่€…ใฏใ€1990ๅนดๅฐๆœซใ‹ใ‚‰ๆ€ฅๆฟ€ใซๅข—ๅŠ ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€EGEใฏๆœฌ้‚ฆใซ็‰นใซๆ‚ฃ่€…ใŒๅคšใ„ใ€‚่จบๆ–ญๆณ•ใ€ๆฒป็™‚ๆณ•ใŒ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅคšใใฎๆ‚ฃ่€…ใŒ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž๏ผˆN-FPIES๏ผ‰ใงใฏ10๏ผ…ใฎๆ‚ฃ่€…ใฏใ€็”Ÿๅ‘ฝใซใ‹ใ‹ใ‚ใ‚‹้‡ๅคงใชๅˆไฝต็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใŸใ‚ใ€็ทŠๆ€ฅใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃ็—‡ไพ‹ใฎๅ ดๅˆใ€็—‡็Šถใฏไธ€็”Ÿ็ถšใใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใงใฏใ€ๅšฅไธ‹้šœๅฎณใฎใŸใ‚ใซๆ—ฅๅธธ็”ŸๆดปใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใจใจใ‚‚ใซใ€้•ทๆœŸ็ตŒ้Žไพ‹ใงใฏใ€้ฃŸ้“็‹ญ็ช„ใ‚’่ตทใ“ใ—่ฆณ่ก€็š„ใชๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏ่ƒƒ-ๅคง่…ธใซ่‡ณใ‚‹้‡่ฆใช่‡“ๅ™จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŒใ€ๆฌง็ฑณใงใฏ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญๆฒป็™‚็ ”็ฉถใŒ้€ฒใ‚“ใงใ„ใชใ„ใ€‚ๅคšใใฎๆ‚ฃ่€…ใ‚’ๆŠฑใˆใ‚‹ๆˆ‘ใŒๅ›ฝใง็ ”็ฉถใ‚’้€ฒๆญฉใ•ใ›ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚60๏ผ…็จ‹ๅบฆใฎไพ‹ใงๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งๅŒ–ใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ไพๅญ˜ๆ€งใจใชใ‚‹ใชใฉใ—ใฆ่–ฌๅ‰คๆฒป็™‚ใซใจใ‚‚ใชใ†ๆง˜ใ€…ใชๅ‰ฏไฝœ็”จใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ—ฅๆœฌใงใฏๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏใ€ไปฅๅ‰ใ‹ใ‚‰็—‡ไพ‹ๅ ฑๅ‘ŠใŒๅคšใ„ใŒใ€ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใฏๅฐ‘ใชใ„ใ€‚้€†ใซๆฌง็ฑณใงใฏๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใŒๅคšใใ€EGEใฏๅฐ‘ใชใ„ใ€‚ไธ–็•Œ็š„ใซEGE ใฎ่จบๆ–ญๆฒป็™‚ๆณ•ใซ้–ขใ™ใ‚‹็ ”็ฉถใฏ้…ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200454 + Eosinophilic gastrointestinal disorders + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใ—ใฃใ‹ใ‚“ ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ + - - + + + EGID Eosinophilic gastrointestinal disease ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ - - 98 - 1200455 - + + 98 + NANDO:1200455 + Neonatal food-protein induced enterocolitis + ใ—ใ‚“ใ›ใ„ใ˜ใซใ‚…ใ†ใ˜ใ—ใ‚‡ใใ‚‚ใคใŸใ‚“ใฑใใ‚†ใ†ใฏใคใ„ใกใ‚‡ใ†ใˆใ‚“ ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž - - + + N-FPIES + ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž - - 98 - 1200456 - + + 98 + NANDO:1200456 + Eosinophilic esophagitis + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใใฉใ†ใˆใ‚“ ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž - - + + + EoE EoE ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž - - 98 - 1200457 - + + 98 + NANDO:1200457 + Eosinophilic gastroenteritis + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ„ใกใ‚‡ใ†ใˆใ‚“ ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž - - + + + EGE EGE ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž - - 99 - ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinal Pseudo-Obstruction๏ผšCIIP๏ผ‰ใฏใ€้•ทๆœŸใซ่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›็ญ‰ใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๆฅใ™ๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Intestinal Pseudo-Obstruction๏ผšCIPO๏ผ‰ใซใฏใ€ๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง๏ผˆPrimary๏ผ‰ใ€ๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง๏ผˆSecondary๏ผ‰ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใซใฏใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใ‚„CIIPใ‚’้™คใ„ใŸใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…้กž็ธ็–พๆ‚ฃ็ญ‰ใŒใ‚ใ‚Šใ€ๅฐๅ…ๆœŸใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏ้‘‘ๅˆฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๆˆไบบใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏใ€็ถš็™บๆ€งใฎๅฝๆ€ง่…ธ้–‰ๅกžใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ - 1200458 - - Chronic Idiopathic Intestinal Pseudo-Obstruction + + 99 + ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinal Pseudo-Obstruction๏ผšCIIP๏ผ‰ใฏใ€้•ทๆœŸใซ่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›็ญ‰ใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๆฅใ™ๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Intestinal Pseudo-Obstruction๏ผšCIPO๏ผ‰ใซใฏใ€ๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง๏ผˆPrimary๏ผ‰ใ€ๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง๏ผˆSecondary๏ผ‰ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใซใฏใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใ‚„CIIPใ‚’้™คใ„ใŸใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…้กž็ธ็–พๆ‚ฃ็ญ‰ใŒใ‚ใ‚Šใ€ๅฐๅ…ๆœŸใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏ้‘‘ๅˆฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๆˆไบบใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏใ€็ถš็™บๆ€งใฎๅฝๆ€ง่…ธ้–‰ๅกžใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200458 + + Chronic idiopathic intestinal pseudo-obstruction + ใพใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใŽใ›ใ„ใกใ‚‡ใ†ใธใ„ใใใ—ใ‚‡ใ† ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ + - - - Chronic intestinal pseudo-obstruction + + + CIIP ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ - - 100 - ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พค๏ผˆๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡๏ผˆMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผšMMIHS๏ผ‰๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ - 1200459 - - Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome + + 100 + ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พค๏ผˆๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡๏ผˆMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผšMMIHS๏ผ‰๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ + NANDO:1200459 + + Megacystis-microcolon-intestinal hypoperistalsis syndrome + ใใ‚‡ใ ใ„ใผใ†ใ“ใ†ใŸใ‚“ใ—ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ‚“ใœใ‚“ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ† ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡ + + - - + + Huge bladder short and small colon intestinal peristalsis deficiency + MMIHS Megacystis microcolon intestinal hypoperistalsis syndrome ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡ - - 101 - ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ - 1200460 - + + 101 + ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ + NANDO:1200460 + Congenital isolated hypoganglionosis + ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚“ใ‘ใ„ใ›ใคใ•ใ„ใผใ†ใใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡ + + - - + + Intestinal ganglion cells insignificant disease + ่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡ - - 102 - ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใจใƒ†ใ‚คใƒ“ใŒใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค๏ผ—็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“๏ผˆRubinstein-Taybi๏ผ‰็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ - 1200461 - + + 102 + ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใจใƒ†ใ‚คใƒ“ใŒใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค๏ผ—็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“๏ผˆRubinstein-Taybi๏ผ‰็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ + NANDO:1200461 + Rubinstein-Taybi syndrome + ใ‚‹ใณใ‚“ใ—ใ‚…ใŸใ„ใ‚“ใƒปใฆใ„ใณใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค + - - + + + Rubinstein-Taybi็—‡ๅ€™็พค ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค - - 103 - ็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ - 1200462 - + + 103 + ็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ + NANDO:1200462 + CFC Syndrome CFC็—‡ๅ€™็พค - + ใ—ใƒผใˆใตใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + Cardio-facio-cutaneous syndrome - + cardio-facio-cutaneous็—‡ๅ€™็พค + ๅฟƒ่‡“ใƒป้ก”ใƒป็šฎ่†š็—‡ๅ€™็พค CFC็—‡ๅ€™็พค - - 104 - ๅ…ˆๅคฉ็š„ใชHRAS้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ - 1200463 - - Costello's Syndrome + + 104 + ๅ…ˆๅคฉ็š„ใชHRAS้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ + NANDO:1200463 + + Costello syndrome + ใ“ใ™ใฆใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค + - - - Costello syndrome + + + Costello็—‡ๅ€™็พค ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค - - 105 - CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ… 20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅฟƒๅฅ‡ๅฝขใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”้…ๆปžใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200464 - + + 105 + CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ… 20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅฟƒๅฅ‡ๅฝขใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”้…ๆปžใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200464 + CHARGE syndrome + ใกใ‚ƒใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค + + - - + + + CHARGE็—‡ๅ€™็พค ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค - - 106 - ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ๏ผˆCryopyrin๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ๏ผˆinflammasome๏ผ‰ใ‚’ไป‹ใ—ใŸใƒ—ใƒญใ‚ซใ‚นใƒ‘ใƒผใ‚ผ-๏ผ‘๏ผˆprocaspase-1๏ผ‰ใฎๆดปๆ€งๅŒ–ใซใ‚ˆใ‚‹IL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปฝ็—‡ๅž‹ใฎๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พค๏ผˆFamilial cold autoinflammatorysyndrome๏ผšFCAS๏ผ‰ใ€ไธญ็ญ‰็—‡ใฎใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค๏ผˆMucke-Wells syndrome๏ผšMWS๏ผ‰ใ€้‡็—‡ๅž‹ใฎๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค๏ผˆChronic infantile neurologic cutaneous, and articular syndrome๏ผšCINCA็—‡ๅ€™็พค)๏ผๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ๏ผˆNeonatal onset multisystem inflammatory disease๏ผšNOMID๏ผ‰ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ๆ˜Ž็ขบใซ็—…ๅž‹ใ‚’ๅŒบๅˆฅใงใใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใซใŠใ‘ใ‚‹ๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ100ไบบ็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใŒๅคšใ„ใŒใ€ๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚็™บ็—‡ใซใŠใ‘ใ‚‹็”ทๅฅณๅทฎใฏใชใ„ใ€‚ - 1200465 - + + 106 + ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ๏ผˆCryopyrin๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ๏ผˆinflammasome๏ผ‰ใ‚’ไป‹ใ—ใŸใƒ—ใƒญใ‚ซใ‚นใƒ‘ใƒผใ‚ผ-๏ผ‘๏ผˆprocaspase-1๏ผ‰ใฎๆดปๆ€งๅŒ–ใซใ‚ˆใ‚‹IL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปฝ็—‡ๅž‹ใฎๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พค๏ผˆFamilial cold autoinflammatorysyndrome๏ผšFCAS๏ผ‰ใ€ไธญ็ญ‰็—‡ใฎใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค๏ผˆMucke-Wells syndrome๏ผšMWS๏ผ‰ใ€้‡็—‡ๅž‹ใฎๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค๏ผˆChronic infantile neurologic cutaneous, and articular syndrome๏ผšCINCA็—‡ๅ€™็พค)๏ผๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ๏ผˆNeonatal onset multisystem inflammatory disease๏ผšNOMID๏ผ‰ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ๆ˜Ž็ขบใซ็—…ๅž‹ใ‚’ๅŒบๅˆฅใงใใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใซใŠใ‘ใ‚‹ๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ100ไบบ็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใŒๅคšใ„ใŒใ€ๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚็™บ็—‡ใซใŠใ‘ใ‚‹็”ทๅฅณๅทฎใฏใชใ„ใ€‚ + NANDO:1200465 + Cryopyrin-associated periodic syndrome + ใใ‚ŠใŠใดใ‚Šใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใญใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค + - - + + Cryopyrin associated periodic fever syndrome ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค - - 106 - 1200466 - + + 106 + NANDO:1200466 + Familial cold autoinflammatorysyndrome + ใ‹ใžใใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใ˜ใ‚“ใพใ—ใ‚“ ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น - - + FCAS FCAS - + ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น - - 106 - 1200467 - + + 106 + NANDO:1200467 + Muckle-Wells syndrome - Muckle-Wells็—‡ๅ€™็พค - + ใพใฃใใ‚‹ใƒปใ†ใ‡ใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค + + - - + + MWS MWS + Muckle-Wells็—‡ๅ€™็พค - - Muckle-Wells็—‡ๅ€™็พค - - - 106 - 1200468 - - CINCA็—‡ๅ€™็พค + ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค + + + 106 + NANDO:1200468 + Chronic infantileย neurological cutaneous articular syndrome + ใพใ‚“ใ›ใ„ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใฒใตใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค + - - + + CINCA syndrome + CINCA็—‡ๅ€™็พค + NOMID NOMID - Neonatal Onset Multisystem Inflammatory Disease + Neonatal onset multisystem inflammatory disease + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ - CINCA็—‡ๅ€™็พค - - - 107 - 16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ€ๅŽŸๅ› ไธๆ˜Žใฎ๏ผ–้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๆ…ขๆ€งใฎ้–ข็ฏ€็‚Žใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซ็พ่ฑกใ‚’ๅŸบ็›คใจใ—ใ€้€ฒ่กŒๆ€งใƒป็ ดๅฃŠๆ€งใฎ้–ข็ฏ€็‚Žใ‚’่ชใ‚ใ€ใถใฉใ†่†œ็‚Ž๏ผˆ่™นๅฝฉ็‚Ž๏ผ‰ใ€็šฎ็–นใ€่‚่„พ่…ซใ€ๆผฟ่†œ็‚Žใ€็™บ็†ฑใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใชใฉใ•ใพใ–ใพใช้–ข็ฏ€ๅค–็—‡็Šถใ‚’ไผดใ†ใ€‚ๅ…จ่บซ็—‡็Šถใฎๅผทใ„ๅ…จ่บซๅž‹ใจใ€ๅ…จ่บซ็—‡็Šถใฎใชใ„้–ข็ฏ€ๅž‹ใŒใ‚ใ‚‹ใ€‚ - 1200469 - Systemic-Onset Juvenile Idiopathic Arthritis + ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค + + + 107 + 16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ€ๅŽŸๅ› ไธๆ˜Žใฎ๏ผ–้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๆ…ขๆ€งใฎ้–ข็ฏ€็‚Žใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซ็พ่ฑกใ‚’ๅŸบ็›คใจใ—ใ€้€ฒ่กŒๆ€งใƒป็ ดๅฃŠๆ€งใฎ้–ข็ฏ€็‚Žใ‚’่ชใ‚ใ€ใถใฉใ†่†œ็‚Ž๏ผˆ่™นๅฝฉ็‚Ž๏ผ‰ใ€็šฎ็–นใ€่‚่„พ่…ซใ€ๆผฟ่†œ็‚Žใ€็™บ็†ฑใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใชใฉใ•ใพใ–ใพใช้–ข็ฏ€ๅค–็—‡็Šถใ‚’ไผดใ†ใ€‚ๅ…จ่บซ็—‡็Šถใฎๅผทใ„ๅ…จ่บซๅž‹ใจใ€ๅ…จ่บซ็—‡็Šถใฎใชใ„้–ข็ฏ€ๅž‹ใŒใ‚ใ‚‹ใ€‚ + NANDO:1200469 + Juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž + - - - Juvenile idiopathic arthritis + + + JIA - ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž - - 107 - 1200470 - + + 107 + NANDO:1200470 + Systemic juvenile idiopathic arthritis + ใœใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž + - - + + + sJIA ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž - - 107 - 1200471 - - Articular-typeย juvenile idiopathicย arthritis + + 107 + NANDO:1200471 + + Articular-type juvenile idiopathic arthritis + ใ‹ใ‚“ใ›ใคใŒใŸใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ ้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž - - + + + ้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž - - 108 - ่ฟ‘ๅนดใ€ๅ›ฝๅ†…ๅค–ใงๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็™บ็†ฑใ€็šฎ็–นใ€็ญ‹่‚‰็—›ใ€้–ข็ฏ€็—›ใ€ๆผฟ่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ™‚ใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TNFๅ—ๅฎนไฝ“๏ผ‘ๅž‹๏ผˆTNF๏ผฒSF1A๏ผ‰ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใŒใ€่ฉณใ—ใ„็—…ๆ…‹ใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Žใ‚„ๆˆไบบใ‚นใƒใƒซ็—…ใจ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€้‘‘ๅˆฅใŒ้‡่ฆใจใชใ‚‹ใ€‚ - 1200472 - - TNF receptor-associated periodic syndrome + + 108 + ่ฟ‘ๅนดใ€ๅ›ฝๅ†…ๅค–ใงๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็™บ็†ฑใ€็šฎ็–นใ€็ญ‹่‚‰็—›ใ€้–ข็ฏ€็—›ใ€ๆผฟ่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ™‚ใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TNFๅ—ๅฎนไฝ“๏ผ‘ๅž‹๏ผˆTNF๏ผฒSF1A๏ผ‰ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใŒใ€่ฉณใ—ใ„็—…ๆ…‹ใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Žใ‚„ๆˆไบบใ‚นใƒใƒซ็—…ใจ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€้‘‘ๅˆฅใŒ้‡่ฆใจใชใ‚‹ใ€‚ + NANDO:1200472 + + TNF receptor-associated periodic fever syndrome TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค + ใฆใƒใƒผใˆใฌใˆใตใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - - + + + TRAPS TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค - - 109 - ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome๏ผšHUS๏ผ‰ใฏใ€ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆ€ฅๆ€ง่…Ž้šœๅฎณใ‚’๏ผ“ๅพดๅ€™ใจใ™ใ‚‹ใ€ๅฐๅ…ใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚HUSใฎ็ด„90๏ผ…ใฏไธ‹็—ขใ‚’ไผดใ„ใ€O157็ญ‰ใฎ็—…ๅŽŸๆ€งๅคง่…ธ่Œใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไธ€ๆ–นใงใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‰ใชใ„HUSใŒ็ด„10๏ผ…ๅญ˜ๅœจใ—ใ€ใใ‚Œใ‚‰ใฏ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆthrombotic microangiopathy๏ผšTMA๏ผ‰ใฎไธญใงใ‚‚ใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‹HUSใ€ADAMTS13ๆดปๆ€งไฝŽไธ‹๏ผˆ๏ผœ10๏ผ…๏ผ‰ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผš TTP๏ผ‰ใ€่–ฌๅ‰คใƒป็งปๆคใชใฉใซใ‚ˆใ‚‹ใƒ‹ๆฌกๆ€งTMAใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใจใ—ใฆใ€้žๅ…ธๅž‹๏ผˆatypical,a๏ผ‰HUSใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅŽŸๆ€งๅคง่…ธ่Œใซใ‚ˆใ‚‹HUSใฏๆฏ”่ผƒ็š„ไบˆๅพŒใŒ่‰ฏใ„ใฎใซๅฏพใ—ใ€aHUSใงใฏ่‡ดๆญป็Ž‡ใŒ็ด„25๏ผ…ใจไบˆๅพŒใŒ้žๅธธใซๆ‚ชใ„ใ€‚ๆตทๅค–ใงใฏใ€ๆฏŽๅนด100ไธ‡ไบบใ‚ใŸใ‚Šๆˆไบบใง๏ผ’ไบบ็™บ็—‡ใ€ๅฐๅ…ใงใฏ100ไธ‡ไบบใซ๏ผ—ไบบ็™บ็—‡ใจๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšๅˆๅŒๅง”ๅ“กไผšใซใ‚ˆใ‚‹2013ๅนดใฎaHUSใฎ่จบๆ–ญๅŸบๆบ–ใงใฏใ€aHUSใ‚’ใ€Œ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆTMA๏ผ‰ใ‹ใ‚‰ๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSๅŠใณADAMTS13ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPใ‚’้™คใ„ใŸใ‚‚ใฎใ€ใจใ—ใ€ใใฎไธญใฎไธ€้ƒจใซๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎใ€Œ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใ€ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšใซใ‚ˆใ‚‹ใ€Œ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆaHUS๏ผ‰่จบ็™‚ใ‚ฌใ‚คใƒ‰2015ใ€ใซใŠใ‘ใ‚‹่จบๆ–ญๅŸบๆบ–ใฎๆ”น่จ‚็‰ˆใงใฏใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใฎใฟใŒๆ–ฐใŸใซaHUS๏ผˆ่ฃœไฝ“้–ข้€ฃHUS๏ผ‰ใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚TMAใฎใ†ใกใ€STEC-HUSใ€TTPใ€ไบŒๆฌกๆ€งTMAใ‚’้‘‘ๅˆฅใ—ใˆใŸๆ‚ฃ่€…ใง่‡จๅบŠ็š„ใซaHUSใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„aHUSๆ‚ฃ่€…ใซใŠใ„ใฆใ€ใ•ใ‚‰ใซaHUSใฎ็‰น็•ฐ็š„ใชๆคœๆŸปใ‚’่กŒใ„ใ€ๆ—ข็Ÿฅ่ฃœไฝ“้–ข้€ฃใฎ็—…็š„้บไผๅญๅค‰็•ฐไพ‹ใ€ๆŠ—Hๅ› ๅญๆŠ—ไฝ“้™ฝๆ€งไพ‹ใŒaHUS็ขบๅฎš่จบๆ–ญไพ‹ใงใ‚ใ‚‹ใ€‚ๅŒป็™‚่ฒปๅŠฉๆˆใฎๅฏพ่ฑกใจใ™ในใ็–พ็—…ใฎ็ฏ„ๅ›ฒใฏใ€2015ๅนดใฎๅŸบๆบ–ใซใ‚ˆใ‚‹่‡จๅบŠ็š„aHUS่จบๆ–ญไพ‹ใ€ๅˆใฏaHUS็ขบๅฎš่จบๆ–ญไพ‹ใฎใฟใซๅฏพใ—ใฆใงใ‚ใ‚Šใ€ๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚ - 1200473 - + + 109 + ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome๏ผšHUS๏ผ‰ใฏใ€ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆ€ฅๆ€ง่…Ž้šœๅฎณใ‚’๏ผ“ๅพดๅ€™ใจใ™ใ‚‹ใ€ๅฐๅ…ใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚HUSใฎ็ด„90๏ผ…ใฏไธ‹็—ขใ‚’ไผดใ„ใ€O157็ญ‰ใฎ็—…ๅŽŸๆ€งๅคง่…ธ่Œใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไธ€ๆ–นใงใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‰ใชใ„HUSใŒ็ด„10๏ผ…ๅญ˜ๅœจใ—ใ€ใใ‚Œใ‚‰ใฏ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆthrombotic microangiopathy๏ผšTMA๏ผ‰ใฎไธญใงใ‚‚ใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‹HUSใ€ADAMTS13ๆดปๆ€งไฝŽไธ‹๏ผˆ๏ผœ10๏ผ…๏ผ‰ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผš TTP๏ผ‰ใ€่–ฌๅ‰คใƒป็งปๆคใชใฉใซใ‚ˆใ‚‹ใƒ‹ๆฌกๆ€งTMAใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใจใ—ใฆใ€้žๅ…ธๅž‹๏ผˆatypical,a๏ผ‰HUSใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅŽŸๆ€งๅคง่…ธ่Œใซใ‚ˆใ‚‹HUSใฏๆฏ”่ผƒ็š„ไบˆๅพŒใŒ่‰ฏใ„ใฎใซๅฏพใ—ใ€aHUSใงใฏ่‡ดๆญป็Ž‡ใŒ็ด„25๏ผ…ใจไบˆๅพŒใŒ้žๅธธใซๆ‚ชใ„ใ€‚ๆตทๅค–ใงใฏใ€ๆฏŽๅนด100ไธ‡ไบบใ‚ใŸใ‚Šๆˆไบบใง๏ผ’ไบบ็™บ็—‡ใ€ๅฐๅ…ใงใฏ100ไธ‡ไบบใซ๏ผ—ไบบ็™บ็—‡ใจๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšๅˆๅŒๅง”ๅ“กไผšใซใ‚ˆใ‚‹2013ๅนดใฎaHUSใฎ่จบๆ–ญๅŸบๆบ–ใงใฏใ€aHUSใ‚’ใ€Œ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆTMA๏ผ‰ใ‹ใ‚‰ๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSๅŠใณADAMTS13ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPใ‚’้™คใ„ใŸใ‚‚ใฎใ€ใจใ—ใ€ใใฎไธญใฎไธ€้ƒจใซๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎใ€Œ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใ€ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšใซใ‚ˆใ‚‹ใ€Œ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆaHUS๏ผ‰่จบ็™‚ใ‚ฌใ‚คใƒ‰2015ใ€ใซใŠใ‘ใ‚‹่จบๆ–ญๅŸบๆบ–ใฎๆ”น่จ‚็‰ˆใงใฏใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใฎใฟใŒๆ–ฐใŸใซaHUS๏ผˆ่ฃœไฝ“้–ข้€ฃHUS๏ผ‰ใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚TMAใฎใ†ใกใ€STEC-HUSใ€TTPใ€ไบŒๆฌกๆ€งTMAใ‚’้‘‘ๅˆฅใ—ใˆใŸๆ‚ฃ่€…ใง่‡จๅบŠ็š„ใซaHUSใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„aHUSๆ‚ฃ่€…ใซใŠใ„ใฆใ€ใ•ใ‚‰ใซaHUSใฎ็‰น็•ฐ็š„ใชๆคœๆŸปใ‚’่กŒใ„ใ€ๆ—ข็Ÿฅ่ฃœไฝ“้–ข้€ฃใฎ็—…็š„้บไผๅญๅค‰็•ฐไพ‹ใ€ๆŠ—Hๅ› ๅญๆŠ—ไฝ“้™ฝๆ€งไพ‹ใŒaHUS็ขบๅฎš่จบๆ–ญไพ‹ใงใ‚ใ‚‹ใ€‚ๅŒป็™‚่ฒปๅŠฉๆˆใฎๅฏพ่ฑกใจใ™ในใ็–พ็—…ใฎ็ฏ„ๅ›ฒใฏใ€2015ๅนดใฎๅŸบๆบ–ใซใ‚ˆใ‚‹่‡จๅบŠ็š„aHUS่จบๆ–ญไพ‹ใ€ๅˆใฏaHUS็ขบๅฎš่จบๆ–ญไพ‹ใฎใฟใซๅฏพใ—ใฆใงใ‚ใ‚Šใ€ๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚ + NANDO:1200473 + Atypical hemolytic uremic syndrome + ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค + + - - + + + Atypical haemolytic uraemic syndrome + aHUS ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - 109 - 1200474 - - congenital atypical hemolytic uremicย syndrome + + 109 + NANDO:1200474 + + Congenital atypical hemolytic uremic syndrome + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - + + + Congenital atypical haemolytic uremic syndrome + ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - 109 - 1200475 - - acquired aHUS + + 109 + NANDO:1200475 + + Acquired aHUS + ใ“ใ†ใฆใ‚“ใ›ใ„ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - - acquired atypical hemolytic uremicย syndrome + + + Acquired atypical hemolytic uremic syndrome ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - 110 - ๆœฌ็—‡ใฏใ€NOD2้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใซใฆ็™บ็—‡ใ™ใ‚‹ๅ…จ่บซๆ€ง่‚‰่Šฝ่…ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏNOD2้บไผๅญใฎexon3๏ผˆNOD้ ˜ๅŸŸ๏ผ‰ใซๅค‰็•ฐใ‚’่ชใ‚ใ€in vitroใซใŠใ„ใฆNF-ฮบ Bใฎ่‡ช็™บ็š„ใช่ปขๅ†™ไบข้€ฒใ‚’ๅฐŽใๆฉŸ่ƒฝไบข้€ฒๅค‰็•ฐใงใ‚ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ‚‚ใฎใฎใ€ๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็šฎ่†š็—‡็Šถใƒป้–ข็ฏ€็—‡็Šถใƒป็œผ็—‡็Šถใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ใŒใ€ๅคšใใฎๅ ดๅˆ็—‡็Šถใฏใ“ใฎ้ †ใซๅ‡บ็พใ—ใ€๏ผ“ไธปๅพดๅ…จใฆใŒๅ‡บๆƒใ†ใซใฏๆ™‚้–“ใŒใ‹ใ‹ใ‚‹ใ€‚็ฝนๆ‚ฃ้ƒจไฝใฎ็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏ่‚‰่Šฝ่…ซ๏ผˆ้žไนพ้…ชๆ€งใ€้กžไธŠ็šฎ็ดฐ่ƒžๆ€ง๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ - 1200476 - + + 110 + ๆœฌ็—‡ใฏใ€NOD2้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใซใฆ็™บ็—‡ใ™ใ‚‹ๅ…จ่บซๆ€ง่‚‰่Šฝ่…ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏNOD2้บไผๅญใฎexon3๏ผˆNOD้ ˜ๅŸŸ๏ผ‰ใซๅค‰็•ฐใ‚’่ชใ‚ใ€in vitroใซใŠใ„ใฆNF-ฮบ Bใฎ่‡ช็™บ็š„ใช่ปขๅ†™ไบข้€ฒใ‚’ๅฐŽใๆฉŸ่ƒฝไบข้€ฒๅค‰็•ฐใงใ‚ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ‚‚ใฎใฎใ€ๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็šฎ่†š็—‡็Šถใƒป้–ข็ฏ€็—‡็Šถใƒป็œผ็—‡็Šถใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ใŒใ€ๅคšใใฎๅ ดๅˆ็—‡็Šถใฏใ“ใฎ้ †ใซๅ‡บ็พใ—ใ€๏ผ“ไธปๅพดๅ…จใฆใŒๅ‡บๆƒใ†ใซใฏๆ™‚้–“ใŒใ‹ใ‹ใ‚‹ใ€‚็ฝนๆ‚ฃ้ƒจไฝใฎ็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏ่‚‰่Šฝ่…ซ๏ผˆ้žไนพ้…ชๆ€งใ€้กžไธŠ็šฎ็ดฐ่ƒžๆ€ง๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:1200476 + Blau syndrome + ใถใ‚‰ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค + - - + + + Blau็—‡ๅ€™็พค + Early onset sarcoidosis + ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค - - 111 - ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฏใ€้ชจๆ ผ็ญ‹ใฎๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใชใ„ใ—ไนณๅ…ๆœŸใ‹ใ‚‰็ญ‹ๅŠ›ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’็คบใ—ใ€ใพใŸ็ญ‹็—‡็Šถไปฅๅค–ใซใ‚‚ๅ‘ผๅธ้šœๅฎณใ€ๅฟƒๅˆไฝต็—‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅดๅผฏใ€็™บ่‚ฒใƒป็™บ้”ใฎ้…ใ‚Œ็ญ‰ใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚็ตŒ้Žใฏ็ทฉๅพใชใŒใ‚‰้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ใฏใ€่ก€ๆธ…ใ‚ฏใƒฌใ‚ขใƒใƒณใ‚ญใƒŠใƒผใ‚ผๅ€คใฎๆญฃๅธธใ‹ใ‚‰่ปฝๅบฆไธŠๆ˜‡ใ‚’ใ€็ญ‹้›ปๅ›ณใงใฏๆญฃๅธธใชใ„ใ—็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ—ใ€้ชจๆ ผ็ญ‹็”ปๅƒใงใฏ่Ž็ธฎใ€่„‚่‚ชๅค‰ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ‚Œใ‚‰ๆ‰€่ฆ‹ใฎใฟใงใฏใ€ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅŠใณไปฃ่ฌๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธ€้ƒจใจใฎๅŒบๅˆฅใŒใคใ‹ใชใ„ใ€‚ใใฎใŸใ‚ใ€็ขบๅฎš่จบๆ–ญใซใฏ็ญ‹็”Ÿๆคœใซใ‚ˆใ‚‹็ญ‹็—…็†ๆคœๆŸปใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹็—…็†ๅƒใซๅŸบใฅใใ€็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธ็—…ใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใจใ„ใฃใŸ็—…ๅž‹ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ไธญใซใฏ็‰นๅพด็š„็—…็†ๆ‰€่ฆ‹ใ‚’็คบใ•ใšใ€้ž็‰น็•ฐ็š„็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ™ใฎใฟใงๅˆ†้กžไธ่ƒฝใช้ž็‰น็•ฐ็š„ใชๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ„็—…ๅž‹ใง่ค‡ๆ•ฐใฎ้บไผๅญใฎ้–ขไธŽใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€้‡็—‡ๅบฆใจ็—…็†ๅƒใ€้บไผๅญๅค‰็•ฐใจใซๅฟ…ใšใ—ใ‚‚็›ธ้–ขใŒใ‚ใ‚‹ใ‚ใ‘ใงใฏใชใ„ใ€‚ - 1200477 - + + 111 + ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฏใ€้ชจๆ ผ็ญ‹ใฎๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใชใ„ใ—ไนณๅ…ๆœŸใ‹ใ‚‰็ญ‹ๅŠ›ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’็คบใ—ใ€ใพใŸ็ญ‹็—‡็Šถไปฅๅค–ใซใ‚‚ๅ‘ผๅธ้šœๅฎณใ€ๅฟƒๅˆไฝต็—‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅดๅผฏใ€็™บ่‚ฒใƒป็™บ้”ใฎ้…ใ‚Œ็ญ‰ใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚็ตŒ้Žใฏ็ทฉๅพใชใŒใ‚‰้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ใฏใ€่ก€ๆธ…ใ‚ฏใƒฌใ‚ขใƒใƒณใ‚ญใƒŠใƒผใ‚ผๅ€คใฎๆญฃๅธธใ‹ใ‚‰่ปฝๅบฆไธŠๆ˜‡ใ‚’ใ€็ญ‹้›ปๅ›ณใงใฏๆญฃๅธธใชใ„ใ—็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ—ใ€้ชจๆ ผ็ญ‹็”ปๅƒใงใฏ่Ž็ธฎใ€่„‚่‚ชๅค‰ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ‚Œใ‚‰ๆ‰€่ฆ‹ใฎใฟใงใฏใ€ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅŠใณไปฃ่ฌๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธ€้ƒจใจใฎๅŒบๅˆฅใŒใคใ‹ใชใ„ใ€‚ใใฎใŸใ‚ใ€็ขบๅฎš่จบๆ–ญใซใฏ็ญ‹็”Ÿๆคœใซใ‚ˆใ‚‹็ญ‹็—…็†ๆคœๆŸปใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹็—…็†ๅƒใซๅŸบใฅใใ€็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธ็—…ใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใจใ„ใฃใŸ็—…ๅž‹ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ไธญใซใฏ็‰นๅพด็š„็—…็†ๆ‰€่ฆ‹ใ‚’็คบใ•ใšใ€้ž็‰น็•ฐ็š„็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ™ใฎใฟใงๅˆ†้กžไธ่ƒฝใช้ž็‰น็•ฐ็š„ใชๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ„็—…ๅž‹ใง่ค‡ๆ•ฐใฎ้บไผๅญใฎ้–ขไธŽใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€้‡็—‡ๅบฆใจ็—…็†ๅƒใ€้บไผๅญๅค‰็•ฐใจใซๅฟ…ใšใ—ใ‚‚็›ธ้–ขใŒใ‚ใ‚‹ใ‚ใ‘ใงใฏใชใ„ใ€‚ + NANDO:1200477 + Congenital myopathy + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - + + ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - 111 - 1200478 - + + 111 + NANDO:1200478 + Nemaline myopathy + ใญใพใ‚Šใ‚“ใฟใŠใฑใกใƒผ ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ + - + ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ - - 111 - 1200479 - + + 111 + NANDO:1200479 + Central core disease + ใ›ใ‚“ใจใ‚‰ใ‚‹ใ“ใ‚ใณใ‚‡ใ† ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—… + - - + + ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—… - - 111 - 1200480 - + + 111 + NANDO:1200480 + Minicore myopathy + ใฟใซใ“ใ‚ใณใ‚‡ใ† ใƒŸใƒ‹ใ‚ณใ‚ข็—… - + - - + + Mini core disease ใƒŸใƒ‹ใ‚ณใ‚ข็—… - - 111 - 1200481 - + + 111 + NANDO:1200481 + Myotubular myopathy + ใฟใŠใกใ‚…ใถใ‚‰ใƒผใฟใŠใฑใกใƒผ ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ + - - + + + X-linked centronuclear myopathy ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ - - 111 - 1200482 - + + 111 + NANDO:1200482 + Centronuclear myopathy + ใกใ‚…ใ†ใ—ใ‚“ใ‹ใใฟใŠใฑใกใƒผ ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ - - + + ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ - - 111 - 1200483 - + + 111 + NANDO:1200483 + Congenital fiber-type disproportion myopathy - ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ›ใ‚“ใ„ใตใใ‚“ใจใ†ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡ + - - - + + + ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ - ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ + ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡ - - 111 - 1200484 - Type 1 Fiber Predominance Myopathy - ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็นŠ็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ + + 111 + NANDO:1200484 + + Type 1 fiber predominance myopathy + ใœใ‚“ใŸใ„ใท1ใ›ใ‚“ใ„ใฟใŠใฑใกใƒผ + ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ - - - ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็นŠ็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ - - - 112 - ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€ๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ€ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็‰นๅพดใจใ™ใ‚‹ไนณๅนผๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200485 - + + + ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ + + + 112 + ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€ๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ€ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็‰นๅพดใจใ™ใ‚‹ไนณๅนผๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200485 + Marinesco-Sjogren syndrome + ใพใ‚Šใญใ™ใ“ใƒปใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค - - + + + MSS + Marinesco-Sjogren็—‡ๅ€™็พค ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค - - 113 - ้ชจๆ ผ็ญ‹ใฎๅฃŠๆญปใƒปๅ†็”Ÿใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใงใ€50ไปฅไธŠใฎๅŽŸๅ› ้บไผๅญใŒ่งฃๆ˜Žใ•ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚้ชจๆ ผ็ญ‹้šœๅฎณใซไผดใ†้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใŒใ€้–ข็ฏ€ๆ‹˜็ธฎ๏ฝฅๅค‰ๅฝขใ€ๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใ€ๅฟƒ็ญ‹้šœๅฎณใ€ๅšฅไธ‹ๆฉŸ่ƒฝ้šœๅฎณใ€ๆถˆๅŒ–็ฎก็—‡็Šถใ€้ชจไปฃ่ฌ็•ฐๅธธใ€ๅ†…ๅˆ†ๆณŒไปฃ่ฌ็•ฐๅธธใ€็œผ็—‡็Šถใ€้›ฃ่ดใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ™ใชใ‚ใกใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€้ชจๆ ผ็ญ‹ไปฅๅค–ใซใ‚‚ๅคš่‡“ๅ™จใŒไพตใ•ใ‚Œใ€้›†ๅญฆ็š„ใช็ฎก็†ใ‚’่ฆใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็—…ๅž‹ใจใ—ใฆใฏใ€ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡๏ผˆใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹๏ผใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผ‰ใ€่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใชใฉใŒใ‚ใ‚‹ใ€‚ - 1200486 - + + 113 + ้ชจๆ ผ็ญ‹ใฎๅฃŠๆญปใƒปๅ†็”Ÿใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใงใ€50ไปฅไธŠใฎๅŽŸๅ› ้บไผๅญใŒ่งฃๆ˜Žใ•ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚้ชจๆ ผ็ญ‹้šœๅฎณใซไผดใ†้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใŒใ€้–ข็ฏ€ๆ‹˜็ธฎ๏ฝฅๅค‰ๅฝขใ€ๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใ€ๅฟƒ็ญ‹้šœๅฎณใ€ๅšฅไธ‹ๆฉŸ่ƒฝ้šœๅฎณใ€ๆถˆๅŒ–็ฎก็—‡็Šถใ€้ชจไปฃ่ฌ็•ฐๅธธใ€ๅ†…ๅˆ†ๆณŒไปฃ่ฌ็•ฐๅธธใ€็œผ็—‡็Šถใ€้›ฃ่ดใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ™ใชใ‚ใกใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€้ชจๆ ผ็ญ‹ไปฅๅค–ใซใ‚‚ๅคš่‡“ๅ™จใŒไพตใ•ใ‚Œใ€้›†ๅญฆ็š„ใช็ฎก็†ใ‚’่ฆใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็—…ๅž‹ใจใ—ใฆใฏใ€ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡๏ผˆใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹๏ผใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผ‰ใ€่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:1200486 + Muscular dystrophy + ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - + + ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200487 - + + 113 + NANDO:1200487 + Dystrophinopathies + ใ˜ใ™ใจใ‚ใตใƒใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡ - - + + + ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡ - - 113 - 1200488 - + + 113 + NANDO:1200488 + Duchenne muscular dystrophy + ใงใ‚…ใ—ใ‡ใ‚“ใฌใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200489 - + + 113 + NANDO:1200489 + Becker muscular dystrophy + ในใฃใ‹ใƒผใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200490 - + + 113 + NANDO:1200490 + Limb-girdle muscular dystrophy + ใ—ใŸใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + ่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200491 - + + 113 + NANDO:1200491 + Facioscapulohumeral muscular dystrophy + ใŒใ‚“ใ‚ใ‚“ใ‘ใ‚“ใ“ใ†ใ˜ใ‚‡ใ†ใ‚ใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + - + - ้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200492 - + + 113 + NANDO:1200492 + Emery-Dreifuss muscular dystrophy + ใˆใ‚ใ‚Šใƒผใƒปใฉใ‚Œใ„ใตใ™ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + - + ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200493 - + + 113 + NANDO:1200493 + Oculopharyngeal muscular dystrophy + ใŒใ‚“ใ„ใ‚“ใจใ†ใใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + ็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200494 - + + 113 + NANDO:1200494 + Fukuyama type congenital muscular dystrophy + ใตใใ‚„ใพใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 113 - 1200495 - + + 113 + NANDO:1200495 + Myotonic dystrophy + ใใ‚“ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ ็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + - + + ็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ ็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 114 - ็ญ‹็ทš็ถญใฎ่ˆˆๅฅฎๆ€ง็•ฐๅธธใซใ‚ˆใ‚‹็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰็พ่ฑกใ‚’ไธปๅพดใจใ—ใ€็ญ‹ใฎๅค‰ๆ€ง๏ผˆใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅค‰ๅŒ–๏ผ‰ใ‚’ไผดใ‚ใชใ„้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใ‚„ๅŽŸๅ› ้บไผๅญใ‹ใ‚‰ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅŒๆง˜ใซ็ญ‹ๅผท็›ด็พ่ฑกใ‚’็คบใ™้–ข้€ฃ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พคใซใฏๅซใ‚ใชใ„ใ€‚ - 1200496 - + + 114 + ็ญ‹็ทš็ถญใฎ่ˆˆๅฅฎๆ€ง็•ฐๅธธใซใ‚ˆใ‚‹็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰็พ่ฑกใ‚’ไธปๅพดใจใ—ใ€็ญ‹ใฎๅค‰ๆ€ง๏ผˆใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅค‰ๅŒ–๏ผ‰ใ‚’ไผดใ‚ใชใ„้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใ‚„ๅŽŸๅ› ้บไผๅญใ‹ใ‚‰ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅŒๆง˜ใซ็ญ‹ๅผท็›ด็พ่ฑกใ‚’็คบใ™้–ข้€ฃ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พคใซใฏๅซใ‚ใชใ„ใ€‚ + NANDO:1200496 + Non-dystrophic Myotonia + ใฒใ˜ใ™ใจใ‚ใตใƒใƒผใ›ใ„ใฟใŠใจใซใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค - + Non-dystrophic myotonia syndrome ้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค - - 114 - 1200497 - + + 114 + NANDO:1200497 + Myotonia congenita + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใจใซใƒผ ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ - + ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ - - 114 - 1200498 - + + 114 + NANDO:1200498 + Thomsen disease - ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰ + ใจใ‚€ใœใ‚“ใณใ‚‡ใ† + ใƒˆใƒ ใ‚ผใƒณ็—… - - ใƒˆใƒ ใ‚ผใƒณ็—… - + + ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰ - ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰ + ใƒˆใƒ ใ‚ผใƒณ็—… - - 114 - 1200499 - + + 114 + NANDO:1200499 + Becker disease - ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰ + ในใฃใ‹ใƒผใณใ‚‡ใ† + ใƒ™ใƒƒใ‚ซใƒผ็—… - - ใƒ™ใƒƒใ‚ซใƒผ็—… + + ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰ - ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰ + ใƒ™ใƒƒใ‚ซใƒผ็—… - - 114 - 1200500 - + + 114 + NANDO:1200500 + Sodium channel myotonia - ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ(ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ) + ใชใจใ‚Šใ†ใ‚€ใกใ‚ƒใญใ‚‹ใฟใŠใจใซใƒผ + ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ - - ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ(ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ) + + ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ + + ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ - - 114 - 1200501 - + + 114 + NANDO:1200501 + Paramyotonia congenita + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฑใ‚‰ใฟใŠใจใซใƒผ ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ - - ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ + ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ - - 115 - ็™บไฝœๆ€งใฎ้ชจๆ ผ็ญ‹ใฎ่„ฑๅŠ›ใƒป้บป็—บใ‚’ๆฅใ™้บไผๆ€ง็–พๆ‚ฃใงใ€่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็™บไฝœๆ™‚ใฎ่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚ŠไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใจ้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 1200502 - Hereditary Hypokalemic Periodic Paralysis + + 115 + ็™บไฝœๆ€งใฎ้ชจๆ ผ็ญ‹ใฎ่„ฑๅŠ›ใƒป้บป็—บใ‚’ๆฅใ™้บไผๆ€ง็–พๆ‚ฃใงใ€่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็™บไฝœๆ™‚ใฎ่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚ŠไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใจ้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200502 + Hereditary periodic paralysis + ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ ้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ - - Hereditary periodic paralysis + + Familial periodic paralysis ้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ - - 115 - 1200503 - - Hereditary Hypokalemic Periodic Paralysis + + 115 + NANDO:1200503 + + Hereditary hypokalemic periodic paralysis + ใ„ใงใ‚“ใ›ใ„ใฆใ„ใ‹ใ‚Šใ†ใ‚€ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ ้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ - - + + + Hereditary hypokalaemic periodic paralysis + ้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ - - 115 - 1200504 - - Hereditary Hyperkalemic Periodic Paralysis + + 115 + NANDO:1200504 + + Hereditary hyperkalemic periodic paralysis + ใ„ใงใ‚“ใ›ใ„ใ“ใ†ใ‹ใ‚Šใ†ใ‚€ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ ้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ + - - + + + Hereditary hyperkalaemic periodic paralysis ๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ + ้บไผๆ€งๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ + ้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ - - 116 - ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจใฏใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใƒป็ต่†œ็‚Žใชใฉใฎใ‚ขใƒˆใƒ”ใƒผ็ด ๅ› ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹่„Š้ซ„็‚Žใงใ‚ใ‚‹ใ€‚1997ๅนดใซๅ‰่‰ฏใ‚‰ใŒ๏ผ”ไพ‹ใฎ้ซ˜IgE่ก€็—‡ใจใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ‚’ไผดใฃใŸใ€ๅ››่‚ขใฎ็•ฐๅธธๆ„Ÿ่ฆš๏ผˆใ˜ใ‚“ใ˜ใ‚“ๆ„Ÿ๏ผ‰ใ‚’ๅ‘ˆใ—้ š้ซ„ๅพŒ็ดขใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹่„Š้ซ„็‚Žใ‚’ๅ ฑๅ‘Šใ—ใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจๅ‘ฝๅใ—ใŸใ€‚ - 1200505 - + + 116 + ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจใฏใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใƒป็ต่†œ็‚Žใชใฉใฎใ‚ขใƒˆใƒ”ใƒผ็ด ๅ› ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹่„Š้ซ„็‚Žใงใ‚ใ‚‹ใ€‚1997ๅนดใซๅ‰่‰ฏใ‚‰ใŒ๏ผ”ไพ‹ใฎ้ซ˜IgE่ก€็—‡ใจใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ‚’ไผดใฃใŸใ€ๅ››่‚ขใฎ็•ฐๅธธๆ„Ÿ่ฆš๏ผˆใ˜ใ‚“ใ˜ใ‚“ๆ„Ÿ๏ผ‰ใ‚’ๅ‘ˆใ—้ š้ซ„ๅพŒ็ดขใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹่„Š้ซ„็‚Žใ‚’ๅ ฑๅ‘Šใ—ใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจๅ‘ฝๅใ—ใŸใ€‚ + NANDO:1200505 + Atopic myelitis + ใ‚ใจใดใƒผใ›ใ„ใ›ใใšใ„ใˆใ‚“ ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž - + ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž - - 117 - ่„Š้ซ„ๅ†…ใซ็ฉบๆดž๏ผˆsyrinx๏ผ‰ใŒๅฝขๆˆใ•ใ‚Œใ€ๅฐ่„ณ็—‡็Šถใ€ไธ‹ไฝ่„ณ็ฅž็ตŒ็—‡็Šถใ€ไธŠไธ‹่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆธฉ็—›่ฆš้šœๅฎณใ€่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ€ๅดๅผฏ็—‡ใชใฉๅคšๅฝฉใช็ฅž็ตŒ็—‡็Šถใ€ๅ…จ่บซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็จฎใ€…ใฎๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ€‚ - 1200506 - + + 117 + ่„Š้ซ„ๅ†…ใซ็ฉบๆดž๏ผˆsyrinx๏ผ‰ใŒๅฝขๆˆใ•ใ‚Œใ€ๅฐ่„ณ็—‡็Šถใ€ไธ‹ไฝ่„ณ็ฅž็ตŒ็—‡็Šถใ€ไธŠไธ‹่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆธฉ็—›่ฆš้šœๅฎณใ€่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ€ๅดๅผฏ็—‡ใชใฉๅคšๅฝฉใช็ฅž็ตŒ็—‡็Šถใ€ๅ…จ่บซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็จฎใ€…ใฎๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:1200506 + Syringomyelia + ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ† ่„Š้ซ„็ฉบๆดž็—‡ - + ่„Š้ซ„็ฉบๆดž็—‡ - - 117 - 1200507 - + + 117 + NANDO:1200507 + symptomatic Syringomyelia + ใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ† ็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡ - + + ็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡ - - 117 - 1200508 - + + 117 + NANDO:1200508 + asymptomatic Syringomyelia + ใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ† ็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡ - + + ็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡ - - 118 - ็ฅž็ตŒ็ฎกใฎ้–‰้Ž–้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พ็—…๏ผˆ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณ๏ผ‰ใฏใ€่„Š้ซ„้ซ„่†œ็˜คใ€็„ก่„ณ็—‡ใ€่„ณ็•™ใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใ€‚็„ก่„ณ็—‡ใจ่„ณ็•™ใฏ้ŽๅŠๆ•ฐใŒ่‡ช็„ถๆต็”ฃใ™ใ‚‹ใ‹ใ€ๅฆŠๅจ ไธญ็ตถใ‚’ใ†ใ‘ใ‚‹ใ‹ใ€ๅ‡บ็”Ÿใ—ใฆใ‚‚24ๆ™‚้–“ไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใฎไบŒๅˆ†่„ŠๆคŽใฏ้ก•ๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida aperta๏ผ‰ใจๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida occulta๏ผ‰ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹ใ€‚่„Š้ซ„้ซ„่†œ็˜คใฏๅ‰่€…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใฏใ€็™บ็”Ÿๅญฆ็š„ใซ็›ธ้•ใ™ใ‚‹ใฎใงใ€ๅŽŸๅ› ใ€่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆณ•ใชใฉใ‚’็”ปไธ€็š„ใซ่ญฐ่ซ–ใ™ใ‚‹ใ“ใจใฏ้ฉๅˆ‡ใงใชใ„ใ€‚็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฏใ€ๅฆŠๅจ ๏ผ–้€ฑ๏ผˆๅ—็ฒพ๏ผ”้€ฑๅพŒ๏ผ‰้ ƒใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅฆŠๅจ ๅ‰ใ‹ใ‚‰่‘‰้…ธใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ50๏ฝž70๏ผ…ใ‚’้˜ฒๆญขใงใใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใฏๆฐด้ ญ็—‡ใ€่„ŠๆคŽๅดๅผฏใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆฉŸ่ƒฝ้šœๅฎณใ€ๆŽ’ไพฟ้šœๅฎณใชใฉใŒไธป่ฆใช่‡จๅบŠ็—‡็Šถใงใ‚ใ‚Šใ€่„ณ็ฅž็ตŒๅค–็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€ๆณŒๅฐฟๅ™จ็ง‘ใ€ๅฐๅ…็ง‘ใ€ใƒชใƒใƒ“ใƒชใƒ†ใƒผใ‚ทใƒงใƒณ็ง‘ใชใฉใฎๅŒ…ๆ‹ฌ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ - 1200509 - + + 118 + ็ฅž็ตŒ็ฎกใฎ้–‰้Ž–้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พ็—…๏ผˆ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณ๏ผ‰ใฏใ€่„Š้ซ„้ซ„่†œ็˜คใ€็„ก่„ณ็—‡ใ€่„ณ็•™ใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใ€‚็„ก่„ณ็—‡ใจ่„ณ็•™ใฏ้ŽๅŠๆ•ฐใŒ่‡ช็„ถๆต็”ฃใ™ใ‚‹ใ‹ใ€ๅฆŠๅจ ไธญ็ตถใ‚’ใ†ใ‘ใ‚‹ใ‹ใ€ๅ‡บ็”Ÿใ—ใฆใ‚‚24ๆ™‚้–“ไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใฎไบŒๅˆ†่„ŠๆคŽใฏ้ก•ๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida aperta๏ผ‰ใจๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida occulta๏ผ‰ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹ใ€‚่„Š้ซ„้ซ„่†œ็˜คใฏๅ‰่€…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใฏใ€็™บ็”Ÿๅญฆ็š„ใซ็›ธ้•ใ™ใ‚‹ใฎใงใ€ๅŽŸๅ› ใ€่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆณ•ใชใฉใ‚’็”ปไธ€็š„ใซ่ญฐ่ซ–ใ™ใ‚‹ใ“ใจใฏ้ฉๅˆ‡ใงใชใ„ใ€‚็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฏใ€ๅฆŠๅจ ๏ผ–้€ฑ๏ผˆๅ—็ฒพ๏ผ”้€ฑๅพŒ๏ผ‰้ ƒใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅฆŠๅจ ๅ‰ใ‹ใ‚‰่‘‰้…ธใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ50๏ฝž70๏ผ…ใ‚’้˜ฒๆญขใงใใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใฏๆฐด้ ญ็—‡ใ€่„ŠๆคŽๅดๅผฏใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆฉŸ่ƒฝ้šœๅฎณใ€ๆŽ’ไพฟ้šœๅฎณใชใฉใŒไธป่ฆใช่‡จๅบŠ็—‡็Šถใงใ‚ใ‚Šใ€่„ณ็ฅž็ตŒๅค–็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€ๆณŒๅฐฟๅ™จ็ง‘ใ€ๅฐๅ…็ง‘ใ€ใƒชใƒใƒ“ใƒชใƒ†ใƒผใ‚ทใƒงใƒณ็ง‘ใชใฉใฎๅŒ…ๆ‹ฌ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ + NANDO:1200509 + Myelomeningocele + ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ† ่„Š้ซ„้ซ„่†œ็˜ค + - + ่„Š้ซ„้ซ„่†œ็˜ค - - 119 - ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พคใฏใ€ๆŒ็ถšๆ€งใฎๅ››่‚ขใƒป่บฏๅนนใฎ็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ใƒŸใ‚ชใ‚ญใƒŸใ‚ขใ€ใƒ‹ใƒฅใƒผใƒญใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ปไฝไพๅญ˜ๆ€งใ‚ซใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“๏ผ‰ใŒ้–ข้€ฃใ™ใ‚‹ใ€‚ใ‚ˆใ‚Š้‡็—‡ๅž‹ใฎใƒขใƒซใƒใƒณ็—‡ๅ€™็พคใฏใ€ไธŠ่จ˜ใซๅŠ ใˆใ€ไธๆ•ด่„ˆใ€ๅฐฟๅคฑ็ฆใชใฉใฎๅคšๅฝฉใช่‡ชๅพ‹็ฅž็ตŒ็ณปใฎ็—‡็Šถใจ้‡ๅบฆใฎไธ็œ ใ€ๅคœ้–“่กŒๅ‹•็•ฐๅธธใ€ๅนป่ฆšใ€่จ˜้Š˜ๅŠ›้šœๅฎณใชใฉใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€ๅฅๅฟ˜ใ€ๅคฑ่ฆ‹ๅฝ“่ญ˜้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใชใฉไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใ‚’ๅ‘ˆใ™ใ‚‹ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้–ข้€ฃ่„ณ็‚Žใจใ„ใ†็–พๆ‚ฃๅ˜ไฝใ‚‚ใ‚ใ‚‹ใ€‚ - 1200510 - + + 119 + ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พคใฏใ€ๆŒ็ถšๆ€งใฎๅ››่‚ขใƒป่บฏๅนนใฎ็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ใƒŸใ‚ชใ‚ญใƒŸใ‚ขใ€ใƒ‹ใƒฅใƒผใƒญใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ปไฝไพๅญ˜ๆ€งใ‚ซใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“๏ผ‰ใŒ้–ข้€ฃใ™ใ‚‹ใ€‚ใ‚ˆใ‚Š้‡็—‡ๅž‹ใฎใƒขใƒซใƒใƒณ็—‡ๅ€™็พคใฏใ€ไธŠ่จ˜ใซๅŠ ใˆใ€ไธๆ•ด่„ˆใ€ๅฐฟๅคฑ็ฆใชใฉใฎๅคšๅฝฉใช่‡ชๅพ‹็ฅž็ตŒ็ณปใฎ็—‡็Šถใจ้‡ๅบฆใฎไธ็œ ใ€ๅคœ้–“่กŒๅ‹•็•ฐๅธธใ€ๅนป่ฆšใ€่จ˜้Š˜ๅŠ›้šœๅฎณใชใฉใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€ๅฅๅฟ˜ใ€ๅคฑ่ฆ‹ๅฝ“่ญ˜้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใชใฉไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใ‚’ๅ‘ˆใ™ใ‚‹ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้–ข้€ฃ่„ณ็‚Žใจใ„ใ†็–พๆ‚ฃๅ˜ไฝใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200510 + Isaacs syndrome + ใ‚ใ„ใ–ใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค - - + ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค - - 120 - ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใฏๆŒ็ถšๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็—‡็Šถใงใ€ไธ€้ƒจใฎๆ‚ฃ่€…ใงใฏ็ญ‹ๅŽ็ธฎใฎๆŒ็ถšใŒ็Ÿญใไธ่ฆๅ‰‡ใงใ‚ใฃใŸใ‚Šใ€้–“ๆญ‡็š„ใƒปๅพ‹ๅ‹•็š„ใซ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆŒ็ถšๆ€งใฎ็•ฐๅธธใช็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Šๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ™ใ“ใจใŒๅคšใ„ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’็—‡ๅ€™ใจใ—ใฆ็คบใ™็–พๆ‚ฃใซใฏๅคšใ€…ใ‚ใ‚‹ใŒใ€้บไผๆ€งใŒใ‚ใ‚Šใ€ไป–ใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใซๅฑžใ•ใชใ„็–พๆ‚ฃ็พคใ‚’้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจๅ‘ผใถใ€‚ใ“ใฎ็พคใฎไธญใซใฏใ€้บไผๅญใŒๆœชใ ๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅคšใ€…ใ‚ใ‚‹ใŒใ€ใ“ใ“ใงใฏ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎใ†ใกๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹็–พๆ‚ฃ็พคใ‚’ๆ‰ฑใ†ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏใ€้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡็Šถใ‚’ๅซใ‚€ๆง˜ใ€…ใช็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€DYTใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็พคใจ้‡‘ๅฑžไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹NBIAใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็–พๆ‚ฃใŒๅคšใใ‚’ๅ ใ‚ใ‚‹ใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏๅนผๅ…ใ‹ใ‚‰ๆˆๅนดๆœŸ๏ผˆ้…ใใฆใ‚‚30ๆญณไปฃ๏ผ‰ใซ็™บ็—‡ใ—ใ€ๅ››่‚ขใ€ไฝ“ๅนนใ€้ ญ้ ธ้ƒจใฎใ„ใšใ‚Œใ‹ใซใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’่ชใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ้€ฒ่กŒๆ€งใซ็—‡็Šถใฎๅข—ๆ‚ชใ‚„ๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ—ใ€ๆญฉ่กŒ้šœๅฎณใ€่ตท็ซ‹้šœๅฎณใ€ๅบงไฝ้šœๅฎณใ‚’ๆฅใ™ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆใฏไป–ใฎไธ้šๆ„้‹ๅ‹•๏ผไพ‹ใˆใฐๆŒฏๆˆฆใ€่ˆž่ธ้‹ๅ‹•ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใชใฉใ‚’ๅŒๆ™‚ใซ็คบใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€็ฒพ็ฅž็™บ้”้…ๆปžใ‚„็Ÿฅ็š„ๆฉŸ่ƒฝๆธ›้€€ใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏ้€ฒ่กŒๆ€งใฎ็—…ๆ…‹ใ‚’็คบใ—ใ€็™บ็—‡่ฆๅ› ใซใคใ„ใฆใฏๆœช่งฃๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ไธ€่ˆฌใซใ€ไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใŒใ€็–พๆ‚ฃใซใ‚ˆใฃใฆใฏๅฏพ็—‡็™‚ๆณ•ใซใ‚ˆใฃใฆ็—‡็Šถใฎไธ€้ƒจใŒ่ปฝๅฟซๅˆใฏ็ทฉ่งฃใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใซใ‚‚็ถ™็ถšๆฒป็™‚ใจ้ฉๅˆ‡ใชๅฏพ็—‡็™‚ๆณ•ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ็ญๅŠใณๅ›ฝ็ซ‹็ฒพ็ฅžใƒป็ฅž็ตŒใ‚ปใƒณใ‚ฟใƒผๅง”่จ—็ ”็ฉถใซใ‚ˆใ‚‹็ ”็ฉถ็ญใซใ‚ˆใ‚Œใฐใ€้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจ่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใฏๅ…จๅ›ฝใง็ด„500ไบบใงใ‚ใ‚‹ใ€‚ใพใŸใ€NBIใ‚ทใƒชใƒผใ‚บใซ้–ขใ™ใ‚‹่ชฟๆŸปใงใฏNBIใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹็—‡ไพ‹ๆ•ฐใฏ100ไพ‹ๆœชๆบ€ใงใ‚ใ‚‹ใ€‚ - 1200511 - + + 120 + ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใฏๆŒ็ถšๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็—‡็Šถใงใ€ไธ€้ƒจใฎๆ‚ฃ่€…ใงใฏ็ญ‹ๅŽ็ธฎใฎๆŒ็ถšใŒ็Ÿญใไธ่ฆๅ‰‡ใงใ‚ใฃใŸใ‚Šใ€้–“ๆญ‡็š„ใƒปๅพ‹ๅ‹•็š„ใซ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆŒ็ถšๆ€งใฎ็•ฐๅธธใช็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Šๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ™ใ“ใจใŒๅคšใ„ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’็—‡ๅ€™ใจใ—ใฆ็คบใ™็–พๆ‚ฃใซใฏๅคšใ€…ใ‚ใ‚‹ใŒใ€้บไผๆ€งใŒใ‚ใ‚Šใ€ไป–ใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใซๅฑžใ•ใชใ„็–พๆ‚ฃ็พคใ‚’้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจๅ‘ผใถใ€‚ใ“ใฎ็พคใฎไธญใซใฏใ€้บไผๅญใŒๆœชใ ๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅคšใ€…ใ‚ใ‚‹ใŒใ€ใ“ใ“ใงใฏ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎใ†ใกๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹็–พๆ‚ฃ็พคใ‚’ๆ‰ฑใ†ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏใ€้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡็Šถใ‚’ๅซใ‚€ๆง˜ใ€…ใช็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€DYTใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็พคใจ้‡‘ๅฑžไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹NBIAใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็–พๆ‚ฃใŒๅคšใใ‚’ๅ ใ‚ใ‚‹ใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏๅนผๅ…ใ‹ใ‚‰ๆˆๅนดๆœŸ๏ผˆ้…ใใฆใ‚‚30ๆญณไปฃ๏ผ‰ใซ็™บ็—‡ใ—ใ€ๅ››่‚ขใ€ไฝ“ๅนนใ€้ ญ้ ธ้ƒจใฎใ„ใšใ‚Œใ‹ใซใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’่ชใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ้€ฒ่กŒๆ€งใซ็—‡็Šถใฎๅข—ๆ‚ชใ‚„ๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ—ใ€ๆญฉ่กŒ้šœๅฎณใ€่ตท็ซ‹้šœๅฎณใ€ๅบงไฝ้šœๅฎณใ‚’ๆฅใ™ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆใฏไป–ใฎไธ้šๆ„้‹ๅ‹•๏ผไพ‹ใˆใฐๆŒฏๆˆฆใ€่ˆž่ธ้‹ๅ‹•ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใชใฉใ‚’ๅŒๆ™‚ใซ็คบใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€็ฒพ็ฅž็™บ้”้…ๆปžใ‚„็Ÿฅ็š„ๆฉŸ่ƒฝๆธ›้€€ใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏ้€ฒ่กŒๆ€งใฎ็—…ๆ…‹ใ‚’็คบใ—ใ€็™บ็—‡่ฆๅ› ใซใคใ„ใฆใฏๆœช่งฃๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ไธ€่ˆฌใซใ€ไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใŒใ€็–พๆ‚ฃใซใ‚ˆใฃใฆใฏๅฏพ็—‡็™‚ๆณ•ใซใ‚ˆใฃใฆ็—‡็Šถใฎไธ€้ƒจใŒ่ปฝๅฟซๅˆใฏ็ทฉ่งฃใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใซใ‚‚็ถ™็ถšๆฒป็™‚ใจ้ฉๅˆ‡ใชๅฏพ็—‡็™‚ๆณ•ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ็ญๅŠใณๅ›ฝ็ซ‹็ฒพ็ฅžใƒป็ฅž็ตŒใ‚ปใƒณใ‚ฟใƒผๅง”่จ—็ ”็ฉถใซใ‚ˆใ‚‹็ ”็ฉถ็ญใซใ‚ˆใ‚Œใฐใ€้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจ่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใฏๅ…จๅ›ฝใง็ด„500ไบบใงใ‚ใ‚‹ใ€‚ใพใŸใ€NBIใ‚ทใƒชใƒผใ‚บใซ้–ขใ™ใ‚‹่ชฟๆŸปใงใฏNBIใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹็—‡ไพ‹ๆ•ฐใฏ100ไพ‹ๆœชๆบ€ใงใ‚ใ‚‹ใ€‚ + NANDO:1200511 + Hereditary dystonia + ใ„ใงใ‚“ใ›ใ„ใ˜ใ™ใจใซใ‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - + + ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200512 - - DYT1 dystonia + + 120 + NANDO:1200512 + DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 1 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ1ใ˜ใ™ใจใซใ‚ + - - + + + DYT1 + Dystonia 1, torsion, autosomal dominant + Dystonia musculorum deformans (DMD) + Oppenheim's dystonia + SLC30A10 deficiency + Torsion dystonia-1 + ๆ—ฉๆœŸ็™บ็—‡ๆป่ปขใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + + DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200513 - - DYT2 dystonia + + 120 + NANDO:1200513 + DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 2 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ2ใ˜ใ™ใจใซใ‚ + - - + + + DYT2 + Dystonia 2, autosomal recessive + SLC39A14 deficiency + Torsion dystonia-2 + DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200514 - - DYT3 dystonia + + 120 + NANDO:1200514 + DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 3 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ3ใ˜ใ™ใจใซใ‚ - - - X ๆŸ“่‰ฒไฝ“้€ฃ้Ž–ใ‚ทใ‚™ใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒใ‚šใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚นใƒ  + + + DYT3 + Dystonia 3, torsion, X-linked X-linked dystonia-parkinsonism + XDP + XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚นใƒ  lubag DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200515 - - DYT4 dystonia + + 120 + NANDO:1200515 + DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 4 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ4ใ˜ใ™ใจใซใ‚ + - - + + + DYT4 + Dystonia 4, torsion, autosomal dominant + DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200516 - - DYT5 dystonia + + 120 + NANDO:1200516 + DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 5 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ5ใ˜ใ™ใจใซใ‚ + - - - DYT14 dystonia - DYT14ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - Dopamine-responsive dystonia + + + DRD + DYT5 + DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia, DOPA-responsive Segawa syndrome ใƒ‰ใƒ‘ๅๅฟœๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข ็€ฌๅท็—… + DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200517 - - DYT6 dystonia + + 120 + NANDO:1200517 + DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 6 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ6ใ˜ใ™ใจใซใ‚ + - - + + + DYT6 + Dystonia 6, torsion + DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200518 - - DYT7 dystonia + + 120 + NANDO:1200518 + DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 7 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ7ใ˜ใ™ใจใซใ‚ + - - + + + adult-onset focal dystonia + DYT7 + Dystonia 7, torsion + DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200519 - - DYT8 dystonia + + 120 + NANDO:1200519 + DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 8 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ8ใ˜ใ™ใจใซใ‚ - - + + + DYT8 PNKD1 Paroxysmal nonkinesigenic dyskinesia 1 ็™บไฝœๆ€ง้ž้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1 DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200520 - - DYT9 dystonia + + 120 + NANDO:1200520 + DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 9 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ9ใ˜ใ™ใจใซใ‚ - - - CSE - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity + + + CSE + DYT9 + Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity ็™บไฝœๆ€ง่ˆž่ธใ‚ขใƒ†ใƒˆใƒผใ‚ทใ‚นใƒป็—™ๆ€งๅฏพ้บป็—บ DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200521 - - DYT10 dystonia + + 120 + NANDO:1200521 + DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 10 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ10ใ˜ใ™ใจใซใ‚ - - + + + DYT10 EKD1 Episodic kinesigenic dyskinesia 1 ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1 DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200522 - - DYT11 dystonia + + 120 + NANDO:1200522 + DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 11 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ11ใ˜ใ™ใจใซใ‚ - - + + + DYT11 MDS Myoclonus-dystonia syndrome ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใƒปใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡ๅ€™็พค - - - DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200523 - - DYT12 dystonia + + 120 + NANDO:1200523 + DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 12 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ12ใ˜ใ™ใจใซใ‚ + - - + + + DYT12 + DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200524 - + + 120 + NANDO:1200524 + Rapid-onset dystonia-parkinsonism + ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ˜ใ™ใจใซใ‚ใƒปใฑใƒผใใ‚“ใใซใšใ‚€ ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ  - + RDP ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ  - - 120 - 1200525 - - alternating hemiplegia of childhood + + 120 + NANDO:1200525 + + Alternating hemiplegia of childhood + ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ - + - - + + AHC - ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ - - 120 - 1200526 - + + 120 + NANDO:1200526 + cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss + ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ—ใ‚“ใถใฏใ‚“ใ—ใ‚ƒใ—ใ‚‡ใ†ใ—ใคใŠใ†ใใใ—ใ—ใ‚“ใ‘ใ„ใ„ใ—ใ‚…ใใ‹ใ‚“ใ‹ใใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใกใ‚‡ใ†ใ‹ใใ—ใ‚‡ใ†ใŒใ„ ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ - + CAPOS ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ - - 120 - 1200527 - - DYT13 dystonia + + 120 + NANDO:1200527 + DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 13 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ13ใ˜ใ™ใจใซใ‚ + - - + + + DYT13 + Dystonia 13, torsion, autosomal dominant + DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200528 - - DYT15 dystonia + + 120 + NANDO:1200528 + DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 15 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ15ใ˜ใ™ใจใซใ‚ + - - + + + DYT15 + Dystonia-15, myoclonic + DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200529 - - DYT16 dystonia + + 120 + NANDO:1200529 + DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 16 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ16ใ˜ใ™ใจใซใ‚ + - - + + + DYT16 + DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200530 - - DYT17 dystonia + + 120 + NANDO:1200530 + DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 17 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ17ใ˜ใ™ใจใซใ‚ + - - + + + DYT17 + Dystonia-17, primary torsion, autosomal recessive + DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200531 - - DYT18 dystonia + + 120 + NANDO:1200531 + DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 18 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ18ใ˜ใ™ใจใซใ‚ - - + + + DYT18 + GLUT1 deficiency syndrome 2, childhood onset PED Paroxysmal execise-induced dyskinesia ็™บไฝœๆ€งๅŠดไฝœ่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200532 - - DYT19 dystonia + + 120 + NANDO:1200532 + DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 19 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ19ใ˜ใ™ใจใซใ‚ - - + + + DYT19 EKD2 Episodic kinesigenic dyskinesia 2 ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข2 DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200533 - - DYT20 dystonia + + 120 + NANDO:1200533 + DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข + Dystonia 20 + ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ20ใ˜ใ™ใจใซใ‚ - - + + + DYT20 PNKD2 Paroxysmal nonkinesigenic dyskinesia 2 DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข - - 120 - 1200534 - + + 120 + NANDO:1200534 + NBIA1 - NBIA๏ผ‘ + Neurodegeneration with brain iron accumulation type 1 + ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ1 + - - + + + Hallervorden-Spatz syndrome + NBIA 1 + PKAN + Pantothenate kinase-associated neurodegeneration + ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง + NBIA1 - - 120 - 1200535 - - classical PKAN + + 120 + NANDO:1200535 + + Classic pantothenate kinase-associated neurodegeneration + ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใธใ‚“ใ„ใซใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ“ใฆใ‚“ใŒใŸ๏ผ‰ ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰ - - - - Classical pantothenate kinase-associated neurodegeneration - Hallervorden-Spatz syndrome - + + + Classic Hallervorden-Spatz syndrome + Classic PKAN + NBIA1, classic form + ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰ - - 120 - 1200536 - - Atypical PKAN + + 120 + NANDO:1200536 + + Atypical pantothenate kinase-associated neurodegeneration + ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใธใ‚“ใ„ใซใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰ ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰ - - - - Atypical pantothenate kinase-associated neurodegeneration - Hallervorden-Spatz syndrome - + + + Atypical Hallervorden-Spatz syndrome + Atypical PKAN + NBIA1, atypical form ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰ - - 120 - 1200537 - - NBIA2a + + 120 + NANDO:1200537 + NBIA2a + Neurodegeneration with brain iron accumulation type 2A + ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ2ใˆใƒผ + - - - Classical INAD - Classical Infantile neuroaxonal dystrophy + + + Classic INAD + Classic infantile neuroaxonal dystrophy + NBIA2A ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅคๅ…ธๅž‹๏ผ‰ NBIA2a - - 120 - 1200538 - - NBIA2b + + 120 + NANDO:1200538 + NBIA2b + Neurodegeneration with brain iron accumulation type 2B + ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ2ใณใƒผ - - - Atypical INAD - Atypical Infantile neuroaxonal dystrophy + + + Atypical neuroaxonal dystrophy + NBIA2B + atypical NAD ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰ NBIA2b - - 120 - 1200539 - - NBIA๏ผ“ + + 120 + NANDO:1200539 + NBIA๏ผ“ + Neurodegeneration with brain iron accumulation type 3 + ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ3 - - + + + NBIA 3 Neuroferritinopathy ็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ NBIA๏ผ“ - - 120 - 1200540 - - NBIA๏ผ” + + 120 + NANDO:1200540 + NBIA๏ผ” + Neurodegeneration with brain iron accumulation type 4 + ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ4 + - - + + Aceruloplasminemia - Hereditary ceruloplasmin deficiency + Hereditary ceruloplasmin deficiency + MPAN + Mitochondrial membrane protein-associated neurodegeneration + NBIA4 ็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡ + NBIA๏ผ” - - 120 - 1200541 - - FAHN + + 120 + NANDO:1200541 + FAHN + Fatty acid hydroxylase-associated neurodegeneration + ใˆใตใˆใƒผใˆใ„ใกใˆใฌ - - - Fatty Acid Hydroxylase-associated neurodegeneration - dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35 + + + Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia + FAHN + SPG35 + Spastic paraplegia 35 ่„‚่‚ช้…ธๆฐด้…ธๅŒ–้…ต็ด ๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡ FAHN - - 121 - ็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ใฏใ€ใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–้บไผๅญๅค‰็•ฐใซ้–ข้€ฃใ™ใ‚‹ๅคšๅฝฉใช็ฅž็ตŒ็—‡ๅ€™ใ‚’ๆ•ฐๅๅนดใซใ‚ใŸใ‚Š่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใฏๅŸบๅบ•ๆ ธ็—…ๅค‰ใ‚’ๅๆ˜ ใ—ใฆT2ๅปถ้•ทใจ็Ÿญ็ธฎใŒๆททๅœจใ™ใ‚‹ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใจใ•ใ‚Œใ€็—…็†ๅญฆ็š„ใซใฏๅค‰็•ฐใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใ€ๆญฃๅธธใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใŠใ‚ˆใณ้‡้Ž–ใŒใ€็ฅž็ตŒ็ดฐ่ƒžไฝ“ๅŠใณๆ ธๅ†…ใ€ใ‚ฐใƒชใ‚ข็ดฐ่ƒžๆ ธๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ - 1200542 - + + 121 + ็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ใฏใ€ใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–้บไผๅญๅค‰็•ฐใซ้–ข้€ฃใ™ใ‚‹ๅคšๅฝฉใช็ฅž็ตŒ็—‡ๅ€™ใ‚’ๆ•ฐๅๅนดใซใ‚ใŸใ‚Š่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใฏๅŸบๅบ•ๆ ธ็—…ๅค‰ใ‚’ๅๆ˜ ใ—ใฆT2ๅปถ้•ทใจ็Ÿญ็ธฎใŒๆททๅœจใ™ใ‚‹ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใจใ•ใ‚Œใ€็—…็†ๅญฆ็š„ใซใฏๅค‰็•ฐใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใ€ๆญฃๅธธใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใŠใ‚ˆใณ้‡้Ž–ใŒใ€็ฅž็ตŒ็ดฐ่ƒžไฝ“ๅŠใณๆ ธๅ†…ใ€ใ‚ฐใƒชใ‚ข็ดฐ่ƒžๆ ธๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ + NANDO:1200542 + Neuroferritinopathy + ใ—ใ‚“ใ‘ใ„ใตใ‡ใ‚Šใกใ‚“ใ—ใ‚‡ใ† ็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ - + ็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ - - 122 - ่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ใฏใ€้‰„๏ผˆใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณ๏ผ‰ใŒ่„ณ่กจใ€่„ณๅฎŸ่ณชใซๆฒˆ็€ใ—ใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่„ณใ€่„ณๅนนใชใฉๅพŒ้ ญ่“‹็ชฉใ‚„่„Š้ซ„ใ‚’ไธญๅฟƒใซไธญๆžข็ฅž็ตŒ็ณปใซใณใพใ‚“ๆ€งใƒปๅฏพ็งฐๆ€งใซ็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆๅคๅ…ธๅž‹๏ผ‰ใจใ€้™ๅฑ€ๆ€ง๏ผˆไพ‹๏ผšไธ€ๅดใฎๅ‰้ ญ่‘‰ใชใฉ๏ผ‰ใซ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใฎ๏ผ’็จฎ้กžใŒใ‚ใ‚Šใ€้€šๅธธใฏๅ‰่€…ใ‚’ๆŒ‡ใ™ใ€‚ๅคๅ…ธๅž‹ใฎ่‡จๅบŠ็—‡ๅ€™ใจใ—ใฆๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ‚’้ซ˜ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ไธ€้ƒจใซใฏใ€่„ณๅ‹•่„ˆ็˜คใ€่„ณๅ‹•้™่„ˆ็˜ปใ€ใ‚ขใƒŸใƒญใ‚คใƒ‰่ก€็ฎก็—‡ใ€่…ซ็˜ใ€ๅค–ๅ‚ทใ€่„ณ่„Š้ซ„ๆถฒๆธ›ๅฐ‘็—‡ใ€่„ŠๆŸฑ็ฎกๅ†…ใฎๅšข่ƒžๆ€ง็–พๆ‚ฃใƒป็กฌ่†œ็•ฐๅธธ็—‡ใชใฉใฎๅˆไฝตใ‚’่ชใ‚ใ€ๅŽŸๅ› ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ˜Žใ‚‰ใ‹ใช้–ข้€ฃ็–พๆ‚ฃใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ๅ ดๅˆใŒๅคšใ„ใ€‚ - 1200543 - + + 122 + ่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ใฏใ€้‰„๏ผˆใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณ๏ผ‰ใŒ่„ณ่กจใ€่„ณๅฎŸ่ณชใซๆฒˆ็€ใ—ใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่„ณใ€่„ณๅนนใชใฉๅพŒ้ ญ่“‹็ชฉใ‚„่„Š้ซ„ใ‚’ไธญๅฟƒใซไธญๆžข็ฅž็ตŒ็ณปใซใณใพใ‚“ๆ€งใƒปๅฏพ็งฐๆ€งใซ็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆๅคๅ…ธๅž‹๏ผ‰ใจใ€้™ๅฑ€ๆ€ง๏ผˆไพ‹๏ผšไธ€ๅดใฎๅ‰้ ญ่‘‰ใชใฉ๏ผ‰ใซ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใฎ๏ผ’็จฎ้กžใŒใ‚ใ‚Šใ€้€šๅธธใฏๅ‰่€…ใ‚’ๆŒ‡ใ™ใ€‚ๅคๅ…ธๅž‹ใฎ่‡จๅบŠ็—‡ๅ€™ใจใ—ใฆๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ‚’้ซ˜ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ไธ€้ƒจใซใฏใ€่„ณๅ‹•่„ˆ็˜คใ€่„ณๅ‹•้™่„ˆ็˜ปใ€ใ‚ขใƒŸใƒญใ‚คใƒ‰่ก€็ฎก็—‡ใ€่…ซ็˜ใ€ๅค–ๅ‚ทใ€่„ณ่„Š้ซ„ๆถฒๆธ›ๅฐ‘็—‡ใ€่„ŠๆŸฑ็ฎกๅ†…ใฎๅšข่ƒžๆ€ง็–พๆ‚ฃใƒป็กฌ่†œ็•ฐๅธธ็—‡ใชใฉใฎๅˆไฝตใ‚’่ชใ‚ใ€ๅŽŸๅ› ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ˜Žใ‚‰ใ‹ใช้–ข้€ฃ็–พๆ‚ฃใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ๅ ดๅˆใŒๅคšใ„ใ€‚ + NANDO:1200543 + Superficial siderosis + ใฎใ†ใฒใ‚‡ใ†ใธใ‚‚ใ˜ใงใ‚Šใ‚“ใกใ‚“ใกใ‚ƒใใ—ใ‚‡ใ† ่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ - + Brain table hemosiderosis ่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ - - 123 - ็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆCARASIL๏ผ‰ใฏใ€้’ๅนดๆœŸใ‹ใ‚‰่‹ฅๅนดๆˆไบบๆœŸใซใ€้€ฒ่กŒๆ€งใฎๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใ€ๅคš็™บๆ€งใƒฉใ‚ฏใƒŠๆข—ๅกžใ€็ฆฟ้ ญใ€ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœฌ้‚ฆใง๏ผ—ๅฎถ็ณป๏ผ˜ไพ‹ใ€ๆœฌ้‚ฆไปฅๅค–ใง๏ผ•ไพ‹๏ผ•ๅฎถ็ณปใฎ้บไผๅญ่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200544 - + + 123 + ็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆCARASIL๏ผ‰ใฏใ€้’ๅนดๆœŸใ‹ใ‚‰่‹ฅๅนดๆˆไบบๆœŸใซใ€้€ฒ่กŒๆ€งใฎๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใ€ๅคš็™บๆ€งใƒฉใ‚ฏใƒŠๆข—ๅกžใ€็ฆฟ้ ญใ€ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœฌ้‚ฆใง๏ผ—ๅฎถ็ณป๏ผ˜ไพ‹ใ€ๆœฌ้‚ฆไปฅๅค–ใง๏ผ•ไพ‹๏ผ•ๅฎถ็ณปใฎ้บไผๅญ่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200544 + Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy + ใจใใจใ†ใจใธใ‚“ใ‘ใ„ใ›ใ„ใ›ใใคใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡ - + Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis + CARASIL + CARASIL Cerebral autosomal recessive arteriopathy Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis ็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡ - - 124 - ็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡๏ผˆCerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy๏ผšCADASIL๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ—ใ€่‹ฅๅนดๆœŸใ‹ใ‚‰ๅ‰ๅ…†ใ‚’ไผดใ†็‰‡้ ญ็—›ใŒๅ…ˆ่กŒใ€CTใƒปMRIใงๅŒๅฎšใ•ใ‚Œใ‚‹ๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใŒๅพใ€…ใซ้€ฒ่กŒใ€ไธญๅนดๆœŸใ‹ใ‚‰่„ณๅ’ไธญๅฑ้™บๅ› ๅญใŒใชใใฆใ‚‚็šฎ่ณชไธ‹็™ฝ่ณชใซใƒฉใ‚ฏใƒŠๆข—ๅกžใ‚’็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ—ใ€ใ†ใค็—‡็Šถใ€่„ณ่ก€็ฎกๆ€ง่ช็Ÿฅ็—‡ใซ่‡ณใ‚‹ใ€‚NOTCH3้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ€็—…็†ๅญฆ็š„ใซ่„ณๅฐ่ก€็ฎกใฎๅนณๆป‘็ญ‹ใฎๅค‰ๆ€งใจใ€้›ป้ก•ใงใ‚ชใ‚นใƒŸใ‚ฆใƒ ใซๆฟƒๆŸ“ใ™ใ‚‹้ก†็ฒ’๏ผˆGOM๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ—ใ€้บไผๅญ่จบๆ–ญๅˆใฏ็—…็†่จบๆ–ญใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ - 1200545 - + + 124 + ็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡๏ผˆCerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy๏ผšCADASIL๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ—ใ€่‹ฅๅนดๆœŸใ‹ใ‚‰ๅ‰ๅ…†ใ‚’ไผดใ†็‰‡้ ญ็—›ใŒๅ…ˆ่กŒใ€CTใƒปMRIใงๅŒๅฎšใ•ใ‚Œใ‚‹ๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใŒๅพใ€…ใซ้€ฒ่กŒใ€ไธญๅนดๆœŸใ‹ใ‚‰่„ณๅ’ไธญๅฑ้™บๅ› ๅญใŒใชใใฆใ‚‚็šฎ่ณชไธ‹็™ฝ่ณชใซใƒฉใ‚ฏใƒŠๆข—ๅกžใ‚’็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ—ใ€ใ†ใค็—‡็Šถใ€่„ณ่ก€็ฎกๆ€ง่ช็Ÿฅ็—‡ใซ่‡ณใ‚‹ใ€‚NOTCH3้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ€็—…็†ๅญฆ็š„ใซ่„ณๅฐ่ก€็ฎกใฎๅนณๆป‘็ญ‹ใฎๅค‰ๆ€งใจใ€้›ป้ก•ใงใ‚ชใ‚นใƒŸใ‚ฆใƒ ใซๆฟƒๆŸ“ใ™ใ‚‹้ก†็ฒ’๏ผˆGOM๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ—ใ€้บไผๅญ่จบๆ–ญๅˆใฏ็—…็†่จบๆ–ญใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ + NANDO:1200545 + Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy + ใฒใ—ใคใ‹ใ“ใ†ใใใจใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฎใ†ใฉใ†ใฟใ‚ƒใใ—ใ‚‡ใ† ็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡ - + Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy + CADASIL + CADASIL Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡ - - 125 - ็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆhereditary diffuse leukoencephalopathy with spheroid๏ผšHDLS๏ผ‰ใฏใ€ๅคง่„ณ็™ฝ่ณชใ‚’็—…ๅค‰ใฎไธปๅบงใจใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ๅญค็™บไพ‹ใŒๆ•ฐๅคšใๅญ˜ๅœจใ™ใ‚‹ใ€‚1984ๅนดใซใ‚นใ‚ฆใ‚งใƒผใƒ‡ใƒณๅฎถ็ณปใงๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ไธ–็•Œๅ„ๅœฐใซ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚HDLSใฏใ€่„ณ็”Ÿๆคœๅˆใฏๅ‰–ๆคœใซใ‚ˆใ‚‹็ฅž็ตŒ็—…็†ๅญฆ็š„ๆคœๆŸปใซใ‚ˆใ‚Šๅพ“ๆฅ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใŒใ€2012ๅนดใซHDLSใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆไปฅ้™ใฏใ€้บไผๅญๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใŒๅฏ่ƒฝใซใชใฃใฆใ„ใ‚‹ใ€‚ - 1200546 - + + 125 + ็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆhereditary diffuse leukoencephalopathy with spheroid๏ผšHDLS๏ผ‰ใฏใ€ๅคง่„ณ็™ฝ่ณชใ‚’็—…ๅค‰ใฎไธปๅบงใจใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ๅญค็™บไพ‹ใŒๆ•ฐๅคšใๅญ˜ๅœจใ™ใ‚‹ใ€‚1984ๅนดใซใ‚นใ‚ฆใ‚งใƒผใƒ‡ใƒณๅฎถ็ณปใงๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ไธ–็•Œๅ„ๅœฐใซ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚HDLSใฏใ€่„ณ็”Ÿๆคœๅˆใฏๅ‰–ๆคœใซใ‚ˆใ‚‹็ฅž็ตŒ็—…็†ๅญฆ็š„ๆคœๆŸปใซใ‚ˆใ‚Šๅพ“ๆฅ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใŒใ€2012ๅนดใซHDLSใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆไปฅ้™ใฏใ€้บไผๅญๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใŒๅฏ่ƒฝใซใชใฃใฆใ„ใ‚‹ใ€‚ + NANDO:1200546 + Hereditary diffuse leukoencephalopathy with spheroid + ใ—ใ‚“ใ‘ใ„ใ˜ใใ•ใใ™ใตใ‡ใ‚ใ„ใฉใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใ„ใงใ‚“ใ›ใ„ใณใพใ‚“ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡ + - + + ็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡ - - 126 - ใƒšใƒชใƒผ๏ผˆPerry๏ผ‰็—‡ๅ€™็พคใฏ้žๅธธใซใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ1975ๅนดใซPerryใ‚‰ใซใ‚ˆใ‚Šๅฎถๆ—ๆ€งใฎใ†ใค็—‡็ŠถๅŠใณใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงๆฌง็ฑณ่ซธๅ›ฝใ‚„ๆœฌ้‚ฆใ‹ใ‚‰ๅŒๆง˜ใฎๅฎถ็ณปใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆใฏๅนณๅ‡48ๆญณ็™บ็—‡ใจ่‹ฅๅนดใง็™บ็—‡ใ—ใ€ๆฏ”่ผƒ็š„ๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใจไฝ“้‡ๆธ›ๅฐ‘ใซๅŠ ใˆใฆใ€ใ†ใค็—‡็Šถใ€ใ‚ขใƒ‘ใ‚ทใƒผใ€่„ฑๆŠ‘ๅˆถใ€ๅผ•ใใ“ใ‚‚ใ‚Šใจใ„ใฃใŸ็ฒพ็ฅž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆไธญๆžขๆ€งใฎไฝŽๆ›ๆฐ—ใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใซๅฏพใ—ใฆL-ใƒ‰ใƒ‘่ฃฝๅ‰คใชใฉใฎใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ๆฒป็™‚่–ฌใ‚„ๆŠ—ใ†ใค่–ฌใ€ไฝŽๆ›ๆฐ—ใซๅฏพใ—ใฆไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใชใฉๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€ๆ นๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ - 1200547 - + + 126 + ใƒšใƒชใƒผ๏ผˆPerry๏ผ‰็—‡ๅ€™็พคใฏ้žๅธธใซใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ1975ๅนดใซPerryใ‚‰ใซใ‚ˆใ‚Šๅฎถๆ—ๆ€งใฎใ†ใค็—‡็ŠถๅŠใณใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงๆฌง็ฑณ่ซธๅ›ฝใ‚„ๆœฌ้‚ฆใ‹ใ‚‰ๅŒๆง˜ใฎๅฎถ็ณปใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆใฏๅนณๅ‡48ๆญณ็™บ็—‡ใจ่‹ฅๅนดใง็™บ็—‡ใ—ใ€ๆฏ”่ผƒ็š„ๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใจไฝ“้‡ๆธ›ๅฐ‘ใซๅŠ ใˆใฆใ€ใ†ใค็—‡็Šถใ€ใ‚ขใƒ‘ใ‚ทใƒผใ€่„ฑๆŠ‘ๅˆถใ€ๅผ•ใใ“ใ‚‚ใ‚Šใจใ„ใฃใŸ็ฒพ็ฅž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆไธญๆžขๆ€งใฎไฝŽๆ›ๆฐ—ใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใซๅฏพใ—ใฆL-ใƒ‰ใƒ‘่ฃฝๅ‰คใชใฉใฎใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ๆฒป็™‚่–ฌใ‚„ๆŠ—ใ†ใค่–ฌใ€ไฝŽๆ›ๆฐ—ใซๅฏพใ—ใฆไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใชใฉๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€ๆ นๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ + NANDO:1200547 + Perry syndrome + ใบใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒšใƒชใƒผ็—‡ๅ€™็พค - + ใƒšใƒชใƒผ็—‡ๅ€™็พค - - 127 - ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใฏไธปใจใ—ใฆๅˆ่€ๆœŸใซ็™บ็—‡ใ—ใ€ๅคง่„ณใฎๅ‰้ ญ่‘‰ใ‚„ๅด้ ญ่‘‰ใ‚’ไธญๅฟƒใซ็ฅž็ตŒๅค‰ๆ€งใ‚’ๆฅใŸใ™ใŸใ‚ใ€ไบบๆ ผๅค‰ๅŒ–ใ‚„่กŒๅ‹•้šœๅฎณใ€ๅคฑ่ชž็—‡ใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใชใฉใŒ็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ฝก - 1200548 + + 127 + ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใฏไธปใจใ—ใฆๅˆ่€ๆœŸใซ็™บ็—‡ใ—ใ€ๅคง่„ณใฎๅ‰้ ญ่‘‰ใ‚„ๅด้ ญ่‘‰ใ‚’ไธญๅฟƒใซ็ฅž็ตŒๅค‰ๆ€งใ‚’ๆฅใŸใ™ใŸใ‚ใ€ไบบๆ ผๅค‰ๅŒ–ใ‚„่กŒๅ‹•้šœๅฎณใ€ๅคฑ่ชž็—‡ใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใชใฉใŒ็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ฝก + NANDO:1200548 Frontotemporal lobar degeneration + ใœใ‚“ใจใ†ใใใจใ†ใ‚ˆใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ - + ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ - - 127 - 1200549 - + + 127 + NANDO:1200549 + + (ใ“ใ†ใฉใ†ใ„ใ˜ใ‚‡ใ†ใŒใŸ)ใœใ‚“ใจใ†ใใใจใ†ใŒใŸใซใ‚“ใกใ—ใ‚‡ใ† Behavioral variant frontotemporal dementia ๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡ - + ๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡ - - 127 - 1200550 - + + 127 + NANDO:1200550 + Semantic dementia + ใ„ใฟใ›ใ„ใซใ‚“ใกใ—ใ‚‡ใ† ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡ - + ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡ - - 128 - ็œผ็ƒ้‹ๅ‹•ใ‚„้‹ๅ‹•ๅคฑ่ชฟใ€ๆ„่ญ˜้šœๅฎณใ‚’ไธ‰ไธปๅพดใจใ—ใ€่„ณๅนนใ‚’็—…ๅค‰ใฎ้ฆ–ๅบงใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏ๏ผ”้€ฑไปฅๅ†…ใซใƒ”ใƒผใ‚ฏใจใชใ‚Šใ€ใใฎๅพŒใฏๅพใ€…ใซๅ›žๅพฉใซๅ‘ใ‹ใ†ใฎใŒๅŽŸๅ‰‡ใงใ‚ใ‚‹ใŒใ€็ด„ๅŠๆ•ฐใฎ็—‡ไพ‹ใงๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ—ใ€ไธปใจใ—ใฆๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…จใฆใฎๅนด้ฝขๅฑคใง็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใŒใ€30ๆญณไปฃใ‚’ไธญๅฟƒใจใ—ใฆ่‹ฅๅนด่€…ใฎ็™บ็—‡ใŒๅคšใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 1200551 - + + 128 + ็œผ็ƒ้‹ๅ‹•ใ‚„้‹ๅ‹•ๅคฑ่ชฟใ€ๆ„่ญ˜้šœๅฎณใ‚’ไธ‰ไธปๅพดใจใ—ใ€่„ณๅนนใ‚’็—…ๅค‰ใฎ้ฆ–ๅบงใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏ๏ผ”้€ฑไปฅๅ†…ใซใƒ”ใƒผใ‚ฏใจใชใ‚Šใ€ใใฎๅพŒใฏๅพใ€…ใซๅ›žๅพฉใซๅ‘ใ‹ใ†ใฎใŒๅŽŸๅ‰‡ใงใ‚ใ‚‹ใŒใ€็ด„ๅŠๆ•ฐใฎ็—‡ไพ‹ใงๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ—ใ€ไธปใจใ—ใฆๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…จใฆใฎๅนด้ฝขๅฑคใง็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใŒใ€30ๆญณไปฃใ‚’ไธญๅฟƒใจใ—ใฆ่‹ฅๅนด่€…ใฎ็™บ็—‡ใŒๅคšใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:1200551 + Bickerstaff's Brainstem encephalitis + ใณใฃใ‹ใƒผใ™ใŸใฃใตใฎใ†ใ‹ใ‚“ใฎใ†ใˆใ‚“ ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž - + Bickerstaff Brainstem encephalitis Vickers staff brainstem encephalitis ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž - - 129 - ๅฐๅ…ใซๅคšใใ€็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆฟ€ใซ็™บ็—‡ใ—ใ€ๅ…ธๅž‹ไพ‹ใงใฏไบŒ็›ธๆ€งใฎ็—™ๆ”ฃใจใใ‚Œใซ็ถšใๆ„่ญ˜้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ„่ญ˜้šœๅฎณใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใซใ€ๅคง่„ณ็šฎ่ณชใฎๆฉŸ่ƒฝไฝŽไธ‹ใจใฆใ‚“ใ‹ใ‚“ใŒใ—ใฐใ—ใฐๅ‡บ็พใ™ใ‚‹ใ€‚็ฝน็—…็Ž‡ใฏ๏ผ‘ๅนดใซ100๏ฝž200ไบบใงใ‚ใ‚‹ใ€‚ - 1200552 - - Acute Encephalopathy with Febrile Convulsive Status Epilepticus + + 129 + ๅฐๅ…ใซๅคšใใ€็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆฟ€ใซ็™บ็—‡ใ—ใ€ๅ…ธๅž‹ไพ‹ใงใฏไบŒ็›ธๆ€งใฎ็—™ๆ”ฃใจใใ‚Œใซ็ถšใๆ„่ญ˜้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ„่ญ˜้šœๅฎณใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใซใ€ๅคง่„ณ็šฎ่ณชใฎๆฉŸ่ƒฝไฝŽไธ‹ใจใฆใ‚“ใ‹ใ‚“ใŒใ—ใฐใ—ใฐๅ‡บ็พใ™ใ‚‹ใ€‚็ฝน็—…็Ž‡ใฏ๏ผ‘ๅนดใซ100๏ฝž200ไบบใงใ‚ใ‚‹ใ€‚ + NANDO:1200552 + + acute encephalopathy with biphasic seizures and late reduced diffusion + ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸ๏ผˆใซใใ†ใ›ใ„๏ผ‰ใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ† ็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡ + - + + AESD Acute encephalopathy with biphasic seizures and late reduced diffusion - Epilepticus type acute encphalopathy - Epilepticus type biphasic acute encphalopathy + ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡ ็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡ - - 130 - ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใฏใ€ๅ…จ่บซใฎ็„ก็—›ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ€้‹ๅ‹•้บป็—บใ‚’ไผดใ‚ใชใ„ใ€‚ๆธฉ็—›่ฆš้šœๅฎณใซ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใ‚’ใ€้บไผๆ€งๆ„Ÿ่ฆš่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจๅ‘ผใถใŒใ€ใ“ใฎใ†ใก๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใŒๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใซ็›ธๅฝ“ใ™ใ‚‹๏ผˆ๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใฏๆ˜Ž็ขบใชๅŒบๅˆฅใŒๅ›ฐ้›ฃใง่‡จๅบŠ็—‡็ŠถใŒใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใŸใ‚ใ€ไธก่€…ใ‚’ๅซใ‚ใ‚‹๏ผ‰ใ€‚๏ผ”ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใซใ€ๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ๅˆใฏๆถˆๅคฑใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€๏ผ•ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’็คบใ™ใŒ็™บๆฑ—ไฝŽไธ‹ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไผดใ‚ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€๏ผ”ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚็ฒพ็ฅž็™บ้”้…ๆปžใŒใ”ใ่ปฝๅบฆใฎๆ‚ฃ่€…ใ€๏ผ•ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚่ปฝๅบฆใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’็คบใ™ๆ‚ฃ่€…ใ‚‚ใŠใ‚Šใ€่ฟ‘ๅนดใ“ใ‚Œใ‚‰ใฏใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200553 - + + 130 + ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใฏใ€ๅ…จ่บซใฎ็„ก็—›ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ€้‹ๅ‹•้บป็—บใ‚’ไผดใ‚ใชใ„ใ€‚ๆธฉ็—›่ฆš้šœๅฎณใซ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใ‚’ใ€้บไผๆ€งๆ„Ÿ่ฆš่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจๅ‘ผใถใŒใ€ใ“ใฎใ†ใก๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใŒๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใซ็›ธๅฝ“ใ™ใ‚‹๏ผˆ๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใฏๆ˜Ž็ขบใชๅŒบๅˆฅใŒๅ›ฐ้›ฃใง่‡จๅบŠ็—‡็ŠถใŒใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใŸใ‚ใ€ไธก่€…ใ‚’ๅซใ‚ใ‚‹๏ผ‰ใ€‚๏ผ”ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใซใ€ๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ๅˆใฏๆถˆๅคฑใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€๏ผ•ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’็คบใ™ใŒ็™บๆฑ—ไฝŽไธ‹ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไผดใ‚ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€๏ผ”ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚็ฒพ็ฅž็™บ้”้…ๆปžใŒใ”ใ่ปฝๅบฆใฎๆ‚ฃ่€…ใ€๏ผ•ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚่ปฝๅบฆใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’็คบใ™ๆ‚ฃ่€…ใ‚‚ใŠใ‚Šใ€่ฟ‘ๅนดใ“ใ‚Œใ‚‰ใฏใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200553 + Congenital Insensitivity to Pain with Anhidrosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใคใ†ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ + - + ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ - - 131 - ็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ๏ผˆGFAP๏ผ‰ใ€ฮฑ B-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็ŠถๅŠใณMRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹๏ผˆ๏ผ‘ๅž‹๏ผ‰ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹๏ผˆ๏ผ’ๅž‹๏ผ‰ใ€ไธญ้–“ๅž‹๏ผˆ๏ผ“ๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใซใŠใ„ใฆGFAPใฎใƒŸใ‚นใ‚ปใƒณใ‚นๅค‰็•ฐใ‚ใ‚‹ใ„ใฏๆ•ฐๅกฉๅŸบๆฌ ๅคฑใ‚„ๆŒฟๅ…ฅใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใซใคใ„ใฆใฏ็ ”็ฉถใŒ้€ฒใฟใคใคใ‚ใ‚‹ใŒๅๅˆ†่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๆฒป็™‚ใฏๅฏพ็—‡็™‚ๆณ•ใซใจใฉใพใ‚‹ใ€‚ - 1200554 - + + 131 + ็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ๏ผˆGFAP๏ผ‰ใ€ฮฑ B-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็ŠถๅŠใณMRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹๏ผˆ๏ผ‘ๅž‹๏ผ‰ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹๏ผˆ๏ผ’ๅž‹๏ผ‰ใ€ไธญ้–“ๅž‹๏ผˆ๏ผ“ๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใซใŠใ„ใฆGFAPใฎใƒŸใ‚นใ‚ปใƒณใ‚นๅค‰็•ฐใ‚ใ‚‹ใ„ใฏๆ•ฐๅกฉๅŸบๆฌ ๅคฑใ‚„ๆŒฟๅ…ฅใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใซใคใ„ใฆใฏ็ ”็ฉถใŒ้€ฒใฟใคใคใ‚ใ‚‹ใŒๅๅˆ†่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๆฒป็™‚ใฏๅฏพ็—‡็™‚ๆณ•ใซใจใฉใพใ‚‹ใ€‚ + NANDO:1200554 + Alexander Disease + ใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ† ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… + - + ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… - - 131 - 1200555 - + + 131 + NANDO:1200555 + Alexander disease type I + ใ ใ„ใฎใ†ใ‚†ใ†ใ„ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ† ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… - + 1ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… cerebral Alexander disease ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… - - 131 - 1200556 - + + 131 + NANDO:1200556 + Alexander disease type II + ใˆใ‚“ใšใ„ใƒปใ›ใใšใ„ใ‚†ใ†ใ„ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ† ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… - + 2ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… bulbospinal Alexander disease ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… - - 131 - 1200557 - + + 131 + NANDO:1200557 + Alexander disease type III + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ† ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… + - + 3ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… + ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… - - 132 - ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ๏ผˆใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค๏ผ‰ใฏใ€่ƒŽๅ…ใ‹ใ‚‰ๆ–ฐ็”Ÿๅ…ๆœŸใฎ้ž้€ฒ่กŒๆ€ง่„ณ้šœๅฎณใซใ‚ˆใ‚Šๅ’ฝ้ ญๅ–‰้ ญ้ƒจ๏ผˆ็ƒ็ญ‹๏ผ‰ใฎ้‹ๅ‹•้šœๅฎณใ‚’ๆฅใ—ใ€ๅšฅไธ‹ใ€ๆ‘‚้ฃŸใ€ไผš่ฉฑใ€ๅ”พๆถฒใ‚ณใƒณใƒˆใƒผใƒซใฎๆฉŸ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็—‡็Šถใฏๆˆ้•ทใซไผดใฃใฆๅค‰ๅŒ–ใ™ใ‚‹ใŒใ€ๆถˆๅคฑใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚็ตŒ้Žใฏ่„ณๆ€ง้บป็—บใซไผผใ‚‹ใŒใ€ไธŠไธ‹่‚ขใฎ้‹ๅ‹•้šœๅฎณใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅ‚ใ‚ทใƒซใƒ“ใ‚ฆใ‚น่ฃ‚็—‡ๅ€™็พคใจใฏ็•ฐใชใ‚Šใ€็”ปๅƒไธŠ็—…ๅค‰ใ‚’ไผดใ‚ใชใ„ใ€‚ - 1200558 - + + 132 + ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ๏ผˆใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค๏ผ‰ใฏใ€่ƒŽๅ…ใ‹ใ‚‰ๆ–ฐ็”Ÿๅ…ๆœŸใฎ้ž้€ฒ่กŒๆ€ง่„ณ้šœๅฎณใซใ‚ˆใ‚Šๅ’ฝ้ ญๅ–‰้ ญ้ƒจ๏ผˆ็ƒ็ญ‹๏ผ‰ใฎ้‹ๅ‹•้šœๅฎณใ‚’ๆฅใ—ใ€ๅšฅไธ‹ใ€ๆ‘‚้ฃŸใ€ไผš่ฉฑใ€ๅ”พๆถฒใ‚ณใƒณใƒˆใƒผใƒซใฎๆฉŸ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็—‡็Šถใฏๆˆ้•ทใซไผดใฃใฆๅค‰ๅŒ–ใ™ใ‚‹ใŒใ€ๆถˆๅคฑใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚็ตŒ้Žใฏ่„ณๆ€ง้บป็—บใซไผผใ‚‹ใŒใ€ไธŠไธ‹่‚ขใฎ้‹ๅ‹•้šœๅฎณใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅ‚ใ‚ทใƒซใƒ“ใ‚ฆใ‚น่ฃ‚็—‡ๅ€™็พคใจใฏ็•ฐใชใ‚Šใ€็”ปๅƒไธŠ็—…ๅค‰ใ‚’ไผดใ‚ใชใ„ใ€‚ + NANDO:1200558 + Congenital Suprabulbar Paresis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ˜ใ‚‡ใ†ใ›ใ„ใใ‚…ใ†ใพใฒ ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ - + Congenital supranuclear bulbar palsy Worcester drought syndrome Worster-Drought syndrome + ใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ - - 133 - ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€ๅฐ‘ใชใใจใ‚‚็”Ÿ็”ฃๅ…๏ผ˜ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ๅ…จๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏ1,000ไบบๅ‰ๅพŒใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ - 1200559 - - Mobius Syndrome + + 133 + ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€ๅฐ‘ใชใใจใ‚‚็”Ÿ็”ฃๅ…๏ผ˜ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ๅ…จๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏ1,000ไบบๅ‰ๅพŒใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200559 + + Moebius syndrome + ใ‚ใณใ†ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค + - - Moebius syndrome + + Mobius Syndrome ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค - - 134 - ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข๏ผˆDe Morsier๏ผ‰็—‡ๅ€™็พคใฏใ€้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ๏ผ“็—‡็Šถใ‚’ๆฅใ™ๅ…ธๅž‹ไพ‹ใฏ30๏ผ…ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200560 - + + 134 + ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข๏ผˆDe Morsier๏ผ‰็—‡ๅ€™็พคใฏใ€้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ๏ผ“็—‡็Šถใ‚’ๆฅใ™ๅ…ธๅž‹ไพ‹ใฏ30๏ผ…ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200560 + Septo-optic Dysplasia / De Morsier syndrome + ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†/ใฉใ‚‚ใ‚‹ใ—ใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค + - + + ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค - - 134 - 1200561 - + + 134 + NANDO:1200561 + + Septo-optic dysplasia + ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡ + - + De Morsier syndrome + SOD ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค + ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅธธ็—‡ + ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅฝขๆˆ็—‡ + + ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡ - - 135 - 1965ๅนดใซAicardiใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่„ณๆขๆฌ ๆใ€็‚น้ ญใฆใ‚“ใ‹ใ‚“ใ€็ถฒ่„ˆ็ตก่†œ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ๆง˜ใ€…ใช็จฎ้กžใฎ่„ณๅฅ‡ๅฝขใ€้›ฃ็Ÿฅๆ€ง็—™ๆ”ฃใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ๅ‘ˆใ—ใ€ๆœฌ็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ฅž็ตŒ็™บ็”Ÿ็•ฐๅธธใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŽŸๅ› ใ‚‚ไธๆ˜Žใงใ‚ใ‚‹ใŸใ‚ๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ - 1200562 - + + 135 + 1965ๅนดใซAicardiใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่„ณๆขๆฌ ๆใ€็‚น้ ญใฆใ‚“ใ‹ใ‚“ใ€็ถฒ่„ˆ็ตก่†œ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ๆง˜ใ€…ใช็จฎ้กžใฎ่„ณๅฅ‡ๅฝขใ€้›ฃ็Ÿฅๆ€ง็—™ๆ”ฃใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ๅ‘ˆใ—ใ€ๆœฌ็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ฅž็ตŒ็™บ็”Ÿ็•ฐๅธธใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŽŸๅ› ใ‚‚ไธๆ˜Žใงใ‚ใ‚‹ใŸใ‚ๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ + NANDO:1200562 + Aicardi syndrome + ใ‚ใ„ใ‹ใ‚‹ใงใƒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค + - + ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค - - 136 - ็‰‡ๅดๅทจ่„ณ็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซไธ€ๅดใฎๅคง่„ณๅŠ็ƒใŒๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚ŠๅทจๅคงๅŒ–ใ—ใŸ็Šถๆ…‹ใงใ€้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใ€ไธๅ…จ็‰‡้บป็—บใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใฎไธ‰ไธปๅพดใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใฎใชใ„ๅญค็™บๆ€ง ๏ผˆisolated form๏ผ‰ ใจ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใ‚’ๅŸบ็คŽ็–พๆ‚ฃใจใ™ใ‚‹็—‡ๅ€™ๆ€ง ๏ผˆsyndromic form๏ผ‰ ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 1200563 - + + 136 + ็‰‡ๅดๅทจ่„ณ็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซไธ€ๅดใฎๅคง่„ณๅŠ็ƒใŒๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚ŠๅทจๅคงๅŒ–ใ—ใŸ็Šถๆ…‹ใงใ€้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใ€ไธๅ…จ็‰‡้บป็—บใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใฎไธ‰ไธปๅพดใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใฎใชใ„ๅญค็™บๆ€ง ๏ผˆisolated form๏ผ‰ ใจ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใ‚’ๅŸบ็คŽ็–พๆ‚ฃใจใ™ใ‚‹็—‡ๅ€™ๆ€ง ๏ผˆsyndromic form๏ผ‰ ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200563 + Hemimegalencephaly + ใธใ‚“ใใใใ‚‡ใฎใ†ใ—ใ‚‡ใ† ็‰‡ๅดๅทจ่„ณ็—‡ - + ็‰‡ๅดๅทจ่„ณ็—‡ - - 137 - ๅคง่„ณ็šฎ่ณชใซใŠใ‘ใ‚‹ๅฑ€ๆ‰€็š„ใช็™บ็”Ÿ็•ฐๅธธ๏ผˆ็ฅž็ตŒ็ดฐ่ƒžใฎ็™บ็”Ÿใ€ๅข—ๆฎ–ๅŠใณ้Š่ตฐใฎ้šœๅฎณ๏ผ‰ใซ้–ข้€ฃใ—ใŸ็—…ๅทฃใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธปใซไนณๅนผๅ…๏ฝžๅญฆ็ซฅๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€ไธญๅญฆ็”Ÿไปฅ้™ใ‚ใ‚‹ใ„ใฏๆˆไบบใงใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚MRIใซใ‚ˆใ‚Š้™ๅฑ€ๆ€งใฎ็šฎ่ณชใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็•ฐๅธธๆ‰€่ฆ‹ใงๆคœๅ‡บใ•ใ‚Œใ‚‹ไธ€ๆ–นใ€MRI็•ฐๅธธใ‚’ๆฌ ใ็—…็†่จบๆ–ญใงๆ˜Žใ‚‰ใ‹ใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณช็ฅž็ตŒ็ดฐ่ƒžใฎ้…ๅˆ—ใŒๆง˜ใ€…ใช็จ‹ๅบฆใซไนฑใ‚Œใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใฎ็‰นๅพดใ‹ใ‚‰ใ‚ฟใ‚คใƒ—ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณชใฎใฉใ“ใซใงใ‚‚็”Ÿใ˜ใ†ใ‚‹ใ€‚ - 1200564 - + + 137 + ๅคง่„ณ็šฎ่ณชใซใŠใ‘ใ‚‹ๅฑ€ๆ‰€็š„ใช็™บ็”Ÿ็•ฐๅธธ๏ผˆ็ฅž็ตŒ็ดฐ่ƒžใฎ็™บ็”Ÿใ€ๅข—ๆฎ–ๅŠใณ้Š่ตฐใฎ้šœๅฎณ๏ผ‰ใซ้–ข้€ฃใ—ใŸ็—…ๅทฃใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธปใซไนณๅนผๅ…๏ฝžๅญฆ็ซฅๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€ไธญๅญฆ็”Ÿไปฅ้™ใ‚ใ‚‹ใ„ใฏๆˆไบบใงใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚MRIใซใ‚ˆใ‚Š้™ๅฑ€ๆ€งใฎ็šฎ่ณชใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็•ฐๅธธๆ‰€่ฆ‹ใงๆคœๅ‡บใ•ใ‚Œใ‚‹ไธ€ๆ–นใ€MRI็•ฐๅธธใ‚’ๆฌ ใ็—…็†่จบๆ–ญใงๆ˜Žใ‚‰ใ‹ใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณช็ฅž็ตŒ็ดฐ่ƒžใฎ้…ๅˆ—ใŒๆง˜ใ€…ใช็จ‹ๅบฆใซไนฑใ‚Œใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใฎ็‰นๅพดใ‹ใ‚‰ใ‚ฟใ‚คใƒ—ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณชใฎใฉใ“ใซใงใ‚‚็”Ÿใ˜ใ†ใ‚‹ใ€‚ + NANDO:1200564 + Focal cortical dysplasia + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ - + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ - - 137 - 1200565 - - FCD ใ‚ฟใ‚คใƒ—1a + + 137 + NANDO:1200565 + Focal cortical dysplasia type 1a + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใˆใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1a - - FCD ใ‚ฟใ‚คใƒ—1a - - - 137 - 1200566 - - FCD ใ‚ฟใ‚คใƒ—1b + + FCD ใ‚ฟใ‚คใƒ—1a + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1a + + + 137 + NANDO:1200566 + Focal cortical dysplasia type 1b + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใณใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1b - - FCD ใ‚ฟใ‚คใƒ—1b - - - 137 - 1200567 - - FCD ใ‚ฟใ‚คใƒ—1c + + FCD ใ‚ฟใ‚คใƒ—1b + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1b + + + 137 + NANDO:1200567 + Focal cortical dysplasia type 1c + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใ—ใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1c - - FCD ใ‚ฟใ‚คใƒ—1c - - - 137 - 1200568 - - FCD ใ‚ฟใ‚คใƒ—2a + + FCD ใ‚ฟใ‚คใƒ—1c + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1c + + + 137 + NANDO:1200568 + Focal cortical dysplasia type 2a - + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท2ใˆใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2a - - - FCD ใ‚ฟใ‚คใƒ—2a - - - 137 - 1200569 - - FCD ใ‚ฟใ‚คใƒ—2b + + FCD ใ‚ฟใ‚คใƒ—2a + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2a + + + 137 + NANDO:1200569 + Focal cortical dysplasia type 2b - + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท2ใณใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2b - - - FCD ใ‚ฟใ‚คใƒ—2b - - - 137 - 1200570 - - FCD ใ‚ฟใ‚คใƒ—3a + + FCD ใ‚ฟใ‚คใƒ—2b + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2b + + + 137 + NANDO:1200570 + Focal cortical dysplasia type 3a + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใˆใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3a - - FCD ใ‚ฟใ‚คใƒ—3a - - - 137 - 1200571 - - FCD ใ‚ฟใ‚คใƒ—3b + + FCD ใ‚ฟใ‚คใƒ—3a + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3a + + + 137 + NANDO:1200571 + Focal cortical dysplasia type 3b + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใณใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3b - - FCD ใ‚ฟใ‚คใƒ—3b - - - 137 - 1200572 - - FCD ใ‚ฟใ‚คใƒ—3c + + FCD ใ‚ฟใ‚คใƒ—3b + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3b + + + 137 + NANDO:1200572 + Focal cortical dysplasia type 3c + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใ—ใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3c - - FCD ใ‚ฟใ‚คใƒ—3c - - - 137 - 1200573 - - FCD ใ‚ฟใ‚คใƒ—3d + + FCD ใ‚ฟใ‚คใƒ—3c + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3c + + + 137 + NANDO:1200573 + Focal cortical dysplasia type 3d + ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใงใƒใƒผ + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3d - - FCD ใ‚ฟใ‚คใƒ—3d - - - 138 - ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•๏ผˆๅพŒ๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผˆ็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใจ่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผ‰ใ€ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆใ€่ฃ‚่„ณ็—‡ใ€ๅญ”่„ณ็—‡ใ‚’ๅซใ‚€ใ€‚ - 1200574 - + + FCD ใ‚ฟใ‚คใƒ—3d + + ้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3d + + + 138 + ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•๏ผˆๅพŒ๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผˆ็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใจ่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผ‰ใ€ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆใ€่ฃ‚่„ณ็—‡ใ€ๅญ”่„ณ็—‡ใ‚’ๅซใ‚€ใ€‚ + NANDO:1200574 + Neuronal Migration Defects + ใ—ใ‚“ใ‘ใ„ใ•ใ„ใผใ†ใ„ใฉใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ - + Lissencephaly Nerve cell migration disorders ็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ - - 139 - ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - 1200575 - Congenital Cerebral Hypomyelination + + 139 + ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… + NANDO:1200575 + Congenital hypomyelinating leukodystrophy + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ + - - + + Congenital cerebral white matter aplasia + ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ - - 139 - 1200576 - + + 139 + NANDO:1200576 + Pelizaeus-Merzbacher disease + ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใณใ‚‡ใ† ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—… + - + ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—… - - 139 - 1200577 - + + 139 + NANDO:1200577 + Pelizaeus-Merzbacher like disease + ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใ‚ˆใ†ใณใ‚‡ใ†1 ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘ + - + ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘ - - 139 - 1200578 - + + 139 + NANDO:1200578 + Hypomyelination with atrophy of the basal ganglia and cerebellum + ใใฆใ„ใ‹ใใŠใ‚ˆใณใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + + - + + HABC + ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ - - 139 - 1200579 - + + 139 + NANDO:1200579 + 18q-syndrome 18qๆฌ ๅคฑ็—‡ๅ€™็พค + 18ใใ‚…ใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + 18qๆฌ ๅคฑ็—‡ๅ€™็พค - - 139 - 1200580 - + + 139 + NANDO:1200580 + Allan-Herndon-Dudley syndrome + ใ‚ใ‚‰ใ‚“ใƒปใฏใƒผใ‚“ใฉใ‚“ใƒปใŸใฉใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค - + ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค - - 139 - 1200581 - - HSP60 chaperon็—… + + 139 + NANDO:1200581 + + HSP60ใ‚ทใƒฃใƒšใƒญใƒณ็—… Mitochondrial Hsp60 chaperonopathy + ใˆใ„ใกใˆใ™ใดใƒผ60ใ—ใ‚ƒใบใ‚ใ‚“ใณใ‚‡ใ† + - + + HSP60 chaperon็—… - HSP60 chaperon็—… + HSP60ใ‚ทใƒฃใƒšใƒญใƒณ็—… - - 139 - 1200582 - + + 139 + NANDO:1200582 + Salla disease + ใ•ใ‚‰ใณใ‚‡ใ† ใ‚ตใƒฉ็—… + + - + + SD + Salla็—… + ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰ ใ‚ตใƒฉ็—… - - 139 - 1200583 - + + 139 + NANDO:1200583 + Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum + ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใจใฎใ†ใ‚Šใ‚‡ใ†ใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใณใพใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ - + + ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ - - 139 - 1200584 - + + 139 + NANDO:1200584 + Hypomyelination and congenital cataract + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใชใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + - + + HCC ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ - - 139 - 1200585 - - Ataxia, delayed dentition, and hypomyelination + + 139 + NANDO:1200585 + + Ataxia, delayed dentition, and hypomyelination syndrome + ใ—ใฃใกใ‚‡ใ†ใ€ใ—ใŒใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + - + + ADDH ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ - - 139 - 1200586 - + + 139 + NANDO:1200586 + Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease + ใ ใคใšใ„ใŒใŸใพใฃใ—ใ‚‡ใ†ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ€ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ€ใ‚ใƒผใงใ‚“ใฐใƒผใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ€ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† ่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… + - + PCWH + ่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€Waardenburg็—‡ๅ€™็พคใ€Hirschsprung็—… ่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 140 - ๏ผ‘ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใ€ๅ…จ่บซๅผท็›ด้–“ไปฃ็™บไฝœใ‚„ๅŠ่บซๆ€ง้–“ไปฃ็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€็™บ็†ฑ่ช˜็™บใ‘ใ„ใ‚Œใ‚“ใ€ใ‘ใ„ใ‚Œใ‚“้‡็ฉใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€่–ฌ็‰ฉๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใ€ใจใ„ใ†็‰นๅพดใ‚’ใ‚‚ใคใ€‚๏ผ‘ๆญณใ‚’้ŽใŽใ‚‹ใจ็™บ้”้…ๆปžใ‚„้‹ๅ‹•ๅคฑ่ชฟใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„ๆฌ ็ฅž็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅŽŸๅ› ใจใ—ใฆSCN1A้บไผๅญใฎ็•ฐๅธธใ‚’้ซ˜็Ž‡ใซ่ชใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฎ๏ผ‘ใคใ€‚ - 1200587 - + + 140 + ๏ผ‘ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใ€ๅ…จ่บซๅผท็›ด้–“ไปฃ็™บไฝœใ‚„ๅŠ่บซๆ€ง้–“ไปฃ็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€็™บ็†ฑ่ช˜็™บใ‘ใ„ใ‚Œใ‚“ใ€ใ‘ใ„ใ‚Œใ‚“้‡็ฉใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€่–ฌ็‰ฉๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใ€ใจใ„ใ†็‰นๅพดใ‚’ใ‚‚ใคใ€‚๏ผ‘ๆญณใ‚’้ŽใŽใ‚‹ใจ็™บ้”้…ๆปžใ‚„้‹ๅ‹•ๅคฑ่ชฟใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„ๆฌ ็ฅž็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅŽŸๅ› ใจใ—ใฆSCN1A้บไผๅญใฎ็•ฐๅธธใ‚’้ซ˜็Ž‡ใซ่ชใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฎ๏ผ‘ใคใ€‚ + NANDO:1200587 + Dravet syndrome + ใฉใ‚‰ในใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค - + Dorabe syndrome - + ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค - - 141 - ใฆใ‚“ใ‹ใ‚“ๅŽŸๆ€ง็„ฆ็‚นใ‚’ๅด้ ญ่‘‰ใฎๅ†…ๅดใซๆœ‰ใ™ใ‚‹้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใงใ€ใ‹ใค็—…็†ๅญฆ็š„ใซๆตท้ฆฌ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ€‚ๆŽจๅฎš็—…ๅ› ใ€่‡จๅบŠ็ตŒ้Žใ€็™บไฝœ็—‡็Šถใ€่„ณๆณขๆ‰€่ฆ‹ใ€็”ปๅƒๆ‰€่ฆ‹ใชใฉใŒใŠใŠใ‚€ใญๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ€‚ไธŠ่…น้ƒจไธๅฟซๆ„Ÿใชใฉใฎๅ‰ๅ…†ใ€ๅผท็›ดใ‚„่‡ชๅ‹•็—‡ใ‚’ไผดใ†่ค‡้›‘้ƒจๅˆ†็™บไฝœใ‚’่ชใ‚ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใซๆฅตใ‚ใฆๆŠตๆŠ—ใ™ใ‚‹ใŒใ€ไธ€ๅดใฎๆตท้ฆฌ็กฌๅŒ–็—‡ใฎๅ ดๅˆใฏๅค–็ง‘็š„ๆฒป็™‚ใฎๆˆ็ธพใฏใ‚ˆใ„ใ€‚ - 1200588 - + + 141 + ใฆใ‚“ใ‹ใ‚“ๅŽŸๆ€ง็„ฆ็‚นใ‚’ๅด้ ญ่‘‰ใฎๅ†…ๅดใซๆœ‰ใ™ใ‚‹้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใงใ€ใ‹ใค็—…็†ๅญฆ็š„ใซๆตท้ฆฌ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ€‚ๆŽจๅฎš็—…ๅ› ใ€่‡จๅบŠ็ตŒ้Žใ€็™บไฝœ็—‡็Šถใ€่„ณๆณขๆ‰€่ฆ‹ใ€็”ปๅƒๆ‰€่ฆ‹ใชใฉใŒใŠใŠใ‚€ใญๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ€‚ไธŠ่…น้ƒจไธๅฟซๆ„Ÿใชใฉใฎๅ‰ๅ…†ใ€ๅผท็›ดใ‚„่‡ชๅ‹•็—‡ใ‚’ไผดใ†่ค‡้›‘้ƒจๅˆ†็™บไฝœใ‚’่ชใ‚ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใซๆฅตใ‚ใฆๆŠตๆŠ—ใ™ใ‚‹ใŒใ€ไธ€ๅดใฎๆตท้ฆฌ็กฌๅŒ–็—‡ใฎๅ ดๅˆใฏๅค–็ง‘็š„ๆฒป็™‚ใฎๆˆ็ธพใฏใ‚ˆใ„ใ€‚ + NANDO:1200588 + Mesial Temporal Lobe Epilepsy with Bilateral Hippocampal Sclerosis + ใ‹ใ„ใฐใ“ใ†ใ‹ใ‚’ใจใ‚‚ใชใ†ใชใ„ใใใใใจใ†ใ‚ˆใ†ใฆใ‚“ใ‹ใ‚“ ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“ - + Mesial temporal lobe epilepsy with hippocampal sclerosis ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“ - - 142 - ไธป็—‡็ŠถใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅž็™บไฝœ๏ผˆๆ„่ญ˜ใฏๆ›‡ใ‚Šใ€ไธกไธŠ่‚ขใ‚’ไธญๅฟƒใจใ™ใ‚‹ๅ››่‚ขใฎๅพ‹ๅ‹•็š„ใชใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆ€งๆ”ฃ็ธฎใจๅผท็›ดๆ€งๅŽ็ธฎใ‚’็‰นๅพดใจใ™ใ‚‹็‰น็•ฐใช็™บไฝœๅž‹๏ผ‰ใงใ‚ใ‚Šใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ‚‚่ชใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ—ๆญณ๏ผˆ11ใ‹ๆœˆ๏ฝž12ๆญณ๏ผ–ใ‹ๆœˆ๏ผ‰ใงใ€็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 1200589 - + + 142 + ไธป็—‡็ŠถใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅž็™บไฝœ๏ผˆๆ„่ญ˜ใฏๆ›‡ใ‚Šใ€ไธกไธŠ่‚ขใ‚’ไธญๅฟƒใจใ™ใ‚‹ๅ››่‚ขใฎๅพ‹ๅ‹•็š„ใชใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆ€งๆ”ฃ็ธฎใจๅผท็›ดๆ€งๅŽ็ธฎใ‚’็‰นๅพดใจใ™ใ‚‹็‰น็•ฐใช็™บไฝœๅž‹๏ผ‰ใงใ‚ใ‚Šใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ‚‚่ชใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ—ๆญณ๏ผˆ11ใ‹ๆœˆ๏ฝž12ๆญณ๏ผ–ใ‹ๆœˆ๏ผ‰ใงใ€็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:1200589 + Myoclonic absence epilepsy + ใฟใŠใใ‚ใซใƒผใ‘ใฃใ—ใ‚“ใฆใ‚“ใ‹ใ‚“ ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“ - + + ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“ - - 143 - ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅฐๅž‹้‹ๅ‹•็™บไฝœ๏ผˆใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ€ๅคฑ็ซ‹็™บไฝœใ€่„ฑๅŠ›็™บไฝœใชใฉ๏ผ‰ใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“็พคใฏใ€ใใฎ็‰น็•ฐใช็™บไฝœๅž‹ใ‚„ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงไธ–็•Œ็š„ใซๆ—ฉใใ‹ใ‚‰ๆณจ็›ฎใ•ใ‚ŒใฆใใŸใ€‚ไธญใงใ‚‚๏ผ‘ๆญณไปฅไธŠใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใ—ใฆใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผšLGS๏ผ‰ใŒใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณขใจๅผท็›ด็™บไฝœใ€้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใชใฉใฎๅคšๅฝฉใช็™บไฝœๅž‹ใ‚’ๆŒใค็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒใ€Dooseใ‚‰ใฏๆญฃๅธธ็™บ้”ๅนผๅ…ใงใ€้บไผๆ€ง็ด ๅ› ใ‚’่ƒŒๆ™ฏใจใ—ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไธปๅพดใจใ™ใ‚‹ใ€ŒใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ใ€ใ‚’ๆๅ”ฑใ—ใŸใ€‚ๆฝœๅ› ๆ€งLGSใ€ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใ‚„ไนณๅ…่‰ฏๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจใฎ็•ฐๅŒใŒๅ•้กŒใจใชใฃใŸๆ™‚ๆœŸใ‚‚ใ‚ใ‚‹ใŒใ€1989ๅนดๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใ‚ˆใ‚Š็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ่ช็Ÿฅใ•ใ‚ŒใŸใ€‚ - 1200590 - + + 143 + ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅฐๅž‹้‹ๅ‹•็™บไฝœ๏ผˆใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ€ๅคฑ็ซ‹็™บไฝœใ€่„ฑๅŠ›็™บไฝœใชใฉ๏ผ‰ใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“็พคใฏใ€ใใฎ็‰น็•ฐใช็™บไฝœๅž‹ใ‚„ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงไธ–็•Œ็š„ใซๆ—ฉใใ‹ใ‚‰ๆณจ็›ฎใ•ใ‚ŒใฆใใŸใ€‚ไธญใงใ‚‚๏ผ‘ๆญณไปฅไธŠใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใ—ใฆใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผšLGS๏ผ‰ใŒใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณขใจๅผท็›ด็™บไฝœใ€้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใชใฉใฎๅคšๅฝฉใช็™บไฝœๅž‹ใ‚’ๆŒใค็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒใ€Dooseใ‚‰ใฏๆญฃๅธธ็™บ้”ๅนผๅ…ใงใ€้บไผๆ€ง็ด ๅ› ใ‚’่ƒŒๆ™ฏใจใ—ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไธปๅพดใจใ™ใ‚‹ใ€ŒใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ใ€ใ‚’ๆๅ”ฑใ—ใŸใ€‚ๆฝœๅ› ๆ€งLGSใ€ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใ‚„ไนณๅ…่‰ฏๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจใฎ็•ฐๅŒใŒๅ•้กŒใจใชใฃใŸๆ™‚ๆœŸใ‚‚ใ‚ใ‚‹ใŒใ€1989ๅนดๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใ‚ˆใ‚Š็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ่ช็Ÿฅใ•ใ‚ŒใŸใ€‚ + NANDO:1200590 + Epilepsy with Myoclonic Atonic Seizures + ใฟใŠใใ‚ใซใƒผใ ใคใ‚Šใ‚‡ใใปใฃใ•ใ‚’ใจใ‚‚ใชใ†ใฆใ‚“ใ‹ใ‚“ ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ - + Epilepsy with myoclonic cataplexy ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ - - 144 - ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ - 1200591 - + + 144 + ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ + NANDO:1200591 + Lennox-Gastaut syndrome + ใ‚Œใฎใฃใใ™ใƒปใŒใ™ใจใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค + - + ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค - - 145 - ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ - 1200592 - + + 145 + ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ + NANDO:1200592 + West syndrome + ใ†ใˆใ™ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค + - + Infantile spasms + ็‚น้ ญใฆใ‚“ใ‹ใ‚“ ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค - - 146 - ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ - 1200593 - + + 146 + ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ + NANDO:1200593 + Ohtahara syndrome + ใŠใŠใŸใฏใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค - + Early infantile epileptic encephalopathy with suppression burst - + ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค - - 147 - ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ - 1200594 - + + 147 + ็”ŸๅพŒ1ใƒถๆœˆไปฅๅ†…๏ผˆใพใ‚Œใซ3ใƒถๆœˆไปฅๅ†…๏ผ‰ใซ็™บ็—‡ใ™ใ‚‹้‡ใ„ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡๏ผˆใฆใ‚“ใ‹ใ‚“ใฎใŸใ‚็Ÿฅ่ƒฝ้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใŒ่ตทใ‚‹็Šถๆ…‹๏ผ‰ใงใ€ใพใถใŸใ€้ก”ใ€ๆ‰‹่ถณใชใฉใฎไธ่ฆๅ‰‡ใง้ƒจๅˆ†็š„ใชใ€ใฐใ‚‰ใฐใ‚‰ใฎใƒ”ใ‚ฏใƒ”ใ‚ฏใ—ใŸๅ‹•ใ๏ผˆerratic myoclonus๏ผšไธ่ฆๅ‰‡ใช ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น ๏ผ‰ใงใฏใ˜ใพใ‚Šใ€่‡ชๅ‹•็—‡๏ผˆใ‚ใกใ“ใกใŒๅ‹ๆ‰‹ใซๅ‹•ใ๏ผ‰ใ€ๅ‘ผๅธใ‚’ๆญขใ‚ใ‚‹ใ€้ก”ใŒ่ตคใใชใ‚‹ใ“ใจใชใฉใ‚’ไผดใ†ใ„ใ‚ใ„ใ‚ใช้ƒจๅˆ†็™บไฝœใŒ็พใ‚Œใพใ™ใ€‚ๆ™‚ใซๅ…จ่บซใ‚’ใƒ”ใ‚ฏใƒ”ใ‚ฏใ•ใ›ใ‚‹ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅพŒใซใฏไฝ“ใ‚’ๅ›บใ็ชใฃๅผตใ‚‹ๅผท็›ด็™บไฝœใ€ไธ€็žฌใณใใ‚“ใจๅ‹•ใ็™บไฝœ๏ผˆใ‚นใƒ‘ใ‚บใƒ ๏ผ‰ใ‚‚ใพใ‚Œใซใ‚ใ‚Šใพใ™ใ€‚่„ณๆณขใŒ็‰นๅพด็š„ใงใ‚ใ‚Šใ€ๅ…จไฝ“็š„ใช็™บไฝœๆณขใจใปใจใ‚“ใฉๅนณใ‚‰ใซใชใ‚‹ใ“ใจใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚ตใƒ—ใƒฌใƒƒใ‚ทใƒงใƒณใƒปใƒใƒผใ‚นใƒˆใจใ„ใ†ๅฝขใ‚’็คบใ—ใ€็ก็œ ๆ™‚ใซใ‚ˆใ‚Šใฏใฃใใ‚Šใ—ใพใ™ใ€‚็™บไฝœใฏๆฅตใ‚ใฆ้ ป็™บใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌใ‚„ACTH็™‚ๆณ•ใ€ใ‚ฑใƒˆใƒณ้ฃŸใงใฏๆญขใพใ‚‰ใšใ€ใฆใ‚“ใ‹ใ‚“ๅค–็ง‘ๆ‰‹่ก“ใซใ‚‚ๅฝ“ใฆใฏใพใ‚Šใพใ›ใ‚“ใ€‚็™บไฝœใฎ็ตŒ้Žใ€็™บ้”ใฎ็ตŒ้Žใจใ‚‚ใซๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚Šใ€ๅŠๆ•ฐใฏ1ๆญณไปฅๅ†…ใซๆญปไบกใ—ใ€ๆฎ‹ใ‚Šใ‚‚ๅ…จใฆๅฏใŸใใ‚Šใซใชใ‚‹ใจใ„ใ†ใ€้žๅธธใซๅŽณใ—ใ„็—…ๆฐ—ใงใ™ใ€‚ๅŽŸๅ› ใจใ—ใฆใ€ๆฌง็ฑณใงใฏใ€็”Ÿใพใ‚Œใคใไฝ“ใฎไธญใงๅฟ…่ฆใชใ‚‚ใฎใŒไฝœใ‚‰ใ‚Œใชใ„ ๅ…ˆๅคฉๆ€ง ไปฃ่ฌ็•ฐๅธธ็—‡ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใพใ™ใŒใ€ใ‚ใŒๅ›ฝใงใฏ่„ณใฎๅฝขๆ…‹็•ฐๅธธใŒๅฐ‘ใชใใ‚ใ‚Šใพใ›ใ‚“ใ€‚ใ„ใใคใ‹ใฎ้บไผๅญใฎ็•ฐๅธธใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใพใ™ใŒใ€ๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œไธ–็•Œใงใ‚‚๏ผ‘๏ฝž3ไบบใฎใฟใงใ™ใ€‚ + NANDO:1200594 + Early myoclonic encephalopathy + ใใ†ใใฟใŠใใ‚ใซใƒผใฎใ†ใ—ใ‚‡ใ† ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ - + ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ - - 148 - ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ - 1200595 - + + 148 + ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚ + NANDO:1200595 + Epilepsy of infancy with migrating focal seizures + ใ‚†ใ†ใใ†ใ›ใ„ใ—ใ‚‡ใ†ใฆใ‚“ใปใฃใ•ใ‚’ใจใ‚‚ใชใ†ใซใ‚…ใ†ใ˜ใฆใ‚“ใ‹ใ‚“ ้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ - + Infant epilepsy with migratory focus seizure Migrating partial seizures in infancy ้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ - - 149 - ็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๅคšใใฏ็‰‡ๅดๆ€ง๏ผ‰ใซๅผ•ใ็ถšใใ€ไธ€้Žๆ€งใพใŸใฏๆ’ไน…็š„ใช็‰‡้บป็—บใ‚’ๆฎ‹ใ™็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใŸ็—‡ไพ‹ใซใŠใ„ใฆใ€ๅพŒใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใฏ๏ผ”ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹้ž็‰น็•ฐ็š„็†ฑๆ€ง็–พๆ‚ฃใซไผดใ†ใ“ใจใŒๅคšใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎ็™บ็—‡ใฏใ€็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พค็™บ็—‡ใ‹ใ‚‰ใŠใ‚ˆใ๏ผ”ๅนดไปฅๅ†…ใŒๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅˆไฝต็—‡ใจใ—ใฆใ€็‰‡้บป็—บใฎไป–ใซ็Ÿฅ็š„้šœๅฎณใ€็ฒพ็ฅž่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 1200596 - + + 149 + ็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๅคšใใฏ็‰‡ๅดๆ€ง๏ผ‰ใซๅผ•ใ็ถšใใ€ไธ€้Žๆ€งใพใŸใฏๆ’ไน…็š„ใช็‰‡้บป็—บใ‚’ๆฎ‹ใ™็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใŸ็—‡ไพ‹ใซใŠใ„ใฆใ€ๅพŒใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใฏ๏ผ”ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹้ž็‰น็•ฐ็š„็†ฑๆ€ง็–พๆ‚ฃใซไผดใ†ใ“ใจใŒๅคšใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎ็™บ็—‡ใฏใ€็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พค็™บ็—‡ใ‹ใ‚‰ใŠใ‚ˆใ๏ผ”ๅนดไปฅๅ†…ใŒๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅˆไฝต็—‡ใจใ—ใฆใ€็‰‡้บป็—บใฎไป–ใซ็Ÿฅ็š„้šœๅฎณใ€็ฒพ็ฅž่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:1200596 + Hemiconvulsion-Hemiplegia-Epilepsy Syndrome + ใธใ‚“ใใใ‘ใ„ใ‚Œใ‚“ใƒปใ‹ใŸใพใฒใƒปใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค - + One side convulsions, hemiplegia - epilepsy syndrome ็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค - - 150 - ไธป็—‡็Šถใฏใ€้›ฃๆฒปใช้ž็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๆ„่ญ˜ใŒๆ›‡ใ‚Šใ€้ฉๅˆ‡ใช่กŒๅ‹•ใŒใงใใชใ„ใ€‚๏ผ‰ใงใ‚ใ‚Šใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅฐๅž‹ๅˆใฏๅคงๅž‹ใฎ้‹ๅ‹•็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใ€้žๅฏพ็งฐๆ€งใฎๅผท็›ด็™บไฝœใ€้Ž้‹ๅ‹•็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ–ๆญณ๏ผˆ๏ผ๏ฝž24ๆญณ๏ผ‰ใ€‚็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ใ•ใพใ–ใพใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 1200597 - + + 150 + ไธป็—‡็Šถใฏใ€้›ฃๆฒปใช้ž็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๆ„่ญ˜ใŒๆ›‡ใ‚Šใ€้ฉๅˆ‡ใช่กŒๅ‹•ใŒใงใใชใ„ใ€‚๏ผ‰ใงใ‚ใ‚Šใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅฐๅž‹ๅˆใฏๅคงๅž‹ใฎ้‹ๅ‹•็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใ€้žๅฏพ็งฐๆ€งใฎๅผท็›ด็™บไฝœใ€้Ž้‹ๅ‹•็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ–ๆญณ๏ผˆ๏ผ๏ฝž24ๆญณ๏ผ‰ใ€‚็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ใ•ใพใ–ใพใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:1200597 + Ring Chromosome 20 Syndrome + ใ‹ใ‚“ใ˜ใ‚‡ใ†20ใฐใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค - + Ring chromosome 20 epilepsy syndrome ็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค - - 151 - ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฅๅธธ่€…ใซไฝ•ใ‚‰ใ‹ใฎๅ…ˆ่กŒๆ„ŸๆŸ“็—‡ใ‚„ใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎใŒใ‚ใฃใŸๅพŒใซใ€ใ‚ใ‚‹ใ„ใฏๅ…ˆ่กŒๆ„ŸๆŸ“ใชใ้™ๅฑ€ๆ€งใซ็ดฐ่ƒžๅ‚ทๅฎณๆ€งT็ดฐ่ƒžใ‚’ไธปๅฝนใจใ—ใŸ่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€้€šๅธธใฏใฆใ‚“ใ‹ใ‚“็™บไฝœใง็™บ็—…ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใŒ้›ฃๆฒปใซ็ตŒ้Žใ—ใ€ๆฌก็ฌฌใซ็‰‡้บป็—บใƒป็Ÿฅ็š„้šœๅฎณใชใฉใŒๅ‡บ็พใ—ใ€ๅŠ็ƒๆ€งใฎ่Ž็ธฎใŒMRIใงๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็—…ๅนด้ฝขใฏๅนณๅ‡9.0๏ผˆยฑ10.3๏ผ‰ๆญณใ ใŒใ€ๆˆไบบใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใ€‚ - 1200598 - + + 151 + ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฅๅธธ่€…ใซไฝ•ใ‚‰ใ‹ใฎๅ…ˆ่กŒๆ„ŸๆŸ“็—‡ใ‚„ใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎใŒใ‚ใฃใŸๅพŒใซใ€ใ‚ใ‚‹ใ„ใฏๅ…ˆ่กŒๆ„ŸๆŸ“ใชใ้™ๅฑ€ๆ€งใซ็ดฐ่ƒžๅ‚ทๅฎณๆ€งT็ดฐ่ƒžใ‚’ไธปๅฝนใจใ—ใŸ่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€้€šๅธธใฏใฆใ‚“ใ‹ใ‚“็™บไฝœใง็™บ็—…ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใŒ้›ฃๆฒปใซ็ตŒ้Žใ—ใ€ๆฌก็ฌฌใซ็‰‡้บป็—บใƒป็Ÿฅ็š„้šœๅฎณใชใฉใŒๅ‡บ็พใ—ใ€ๅŠ็ƒๆ€งใฎ่Ž็ธฎใŒMRIใงๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็—…ๅนด้ฝขใฏๅนณๅ‡9.0๏ผˆยฑ10.3๏ผ‰ๆญณใ ใŒใ€ๆˆไบบใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใ€‚ + NANDO:1200598 + Rasmussen's Encephalitis + ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“ ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž + - + Rasmussen encephalitis ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž - - 152 - ๆญฃๅธธๅˆใฏ่ปฝๅบฆใฎ้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œใ‚’ๆœ‰ใ™ใ‚‹ไนณๅนผๅ…ๆœŸใฎๅฅณๅ…ใซใ€็™บ็†ฑใƒปๆ„ŸๆŸ“็—‡็ญ‰ใ‚’ๅฅ‘ๆฉŸใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏไธ€ๅบฆๅ‡บ็พใ™ใ‚‹ใจ้ซ˜็Ž‡ใซ็พค็™บใ—๏ผˆๆ—ฅใซไฝ•ๅบฆใ‚‚็นฐใ‚Š่ฟ”ใ™ใ€‚๏ผ‰ใ€ไปฅ้™ใ‚‚ใ—ใฐใ—ใฐ็™บ็†ฑใชใฉใซไผดใ„้ ‘ๅ›บใช็™บไฝœ็พค็™บใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅพŒใฏใ€ใ—ใฐใ—ใฐ็Ÿฅ็š„้šœๅฎณใŒ้€ฒ่กŒใ—ใ€่‡ช้–‰ใ€ๅคšๅ‹•ใ€็จฎใ€…ใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚ - 1200599 - + + 152 + ๆญฃๅธธๅˆใฏ่ปฝๅบฆใฎ้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œใ‚’ๆœ‰ใ™ใ‚‹ไนณๅนผๅ…ๆœŸใฎๅฅณๅ…ใซใ€็™บ็†ฑใƒปๆ„ŸๆŸ“็—‡็ญ‰ใ‚’ๅฅ‘ๆฉŸใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏไธ€ๅบฆๅ‡บ็พใ™ใ‚‹ใจ้ซ˜็Ž‡ใซ็พค็™บใ—๏ผˆๆ—ฅใซไฝ•ๅบฆใ‚‚็นฐใ‚Š่ฟ”ใ™ใ€‚๏ผ‰ใ€ไปฅ้™ใ‚‚ใ—ใฐใ—ใฐ็™บ็†ฑใชใฉใซไผดใ„้ ‘ๅ›บใช็™บไฝœ็พค็™บใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅพŒใฏใ€ใ—ใฐใ—ใฐ็Ÿฅ็š„้šœๅฎณใŒ้€ฒ่กŒใ—ใ€่‡ช้–‰ใ€ๅคšๅ‹•ใ€็จฎใ€…ใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚ + NANDO:1200599 + PCDH19-related Syndrome + ใดใƒผใ—ใƒผใงใƒใƒผใˆใ„ใก19ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค - + Epilepsy and mental retardation limited to females PCDH19 Epilepsy ๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค - - 153 - ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž๏ผˆacute encephalitis with refractory, repetitive partial seizures ๏ผšAERRPS๏ผ‰ใฏใ€ๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ็„ฆ็‚น็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑๅž‹๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚Febrile infection related epilepsy syndrome ๏ผˆFIRES๏ผ‰ใ€New onset refractory status epilepsy ๏ผˆNORSE๏ผ‰็—‡ๅ€™็พคใจใปใผๅŒ็พฉใงใ‚ใ‚‹ใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š็—™ๆ”ฃใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸใ€็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 1200600 - + + 153 + ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž๏ผˆacute encephalitis with refractory, repetitive partial seizures ๏ผšAERRPS๏ผ‰ใฏใ€ๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ็„ฆ็‚น็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑๅž‹๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚Febrile infection related epilepsy syndrome ๏ผˆFIRES๏ผ‰ใ€New onset refractory status epilepsy ๏ผˆNORSE๏ผ‰็—‡ๅ€™็พคใจใปใผๅŒ็พฉใงใ‚ใ‚‹ใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š็—™ๆ”ฃใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸใ€็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:1200600 + Acute encephalitis with refractory, repetitive partial seizures + ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“ ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž + - + Refractory frequent partial seizures intussusception acute encephalitis ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž - - 154 - ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ - 1200601 - + + 154 + ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ + NANDO:1200601 + Epileptic Encephalopathy with Continuous Spike-and-Wave During Sleep + ใ˜ใ‚‡ใฏใ™ใ„ใฟใ‚“ใใ˜ใžใใ›ใ„ใใ‚‡ใใ˜ใ‚‡ใฏใ‚’ใ—ใ‚ใ™ใฆใ‚“ใ‹ใ‚“ใ›ใ„ใฎใ†ใ—ใ‚‡ใ† ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ - + Epilepsy with continuous spikes and waves during slow sleep + + ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ - - 155 - ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ - 1200602 - + + 155 + ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ + NANDO:1200602 + Landau-Kleffner Syndrome + ใ‚‰ใ‚“ใฉใ†ใƒปใใ‚Œใตใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค - + Acquired aphasia with convulsive disorder ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค - - 156 - 1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ - 1200603 - - Rett's Syndrome + + 156 + 1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ + NANDO:1200603 + + Rett syndrome + ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค + - - Rett syndrome + + Rett ็—‡ๅ€™็พค ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค - - 156 - 1200604 - + + 156 + NANDO:1200604 + + typical Rett syndrome + ใฆใ‚“ใ‘ใ„ใฆใใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค + - + + ๅ…ธๅž‹็š„Rett็—‡ๅ€™็พค + + ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค - - 156 - 1200605 - + + 156 + NANDO:1200605 + Atypical Rett syndrome + ใฒใฆใ‚“ใ‘ใ„ใฆใใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค - + + ้žๅ…ธๅž‹็š„Rett็—‡ๅ€™็พค ้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค - - 157 - ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€่„ณๅ†…ใฎ่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใฎใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ€็œผใฎ็ท‘ๅ†…้šœใ‚’ๆœ‰ใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใชใฉใŒๅ•้กŒใจใชใ‚‹ใ€‚ - 1200606 - + + 157 + ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€่„ณๅ†…ใฎ่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใฎใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ€็œผใฎ็ท‘ๅ†…้šœใ‚’ๆœ‰ใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใชใฉใŒๅ•้กŒใจใชใ‚‹ใ€‚ + NANDO:1200606 + Sturge-Weber syndrome + ใ™ใŸใƒผใ˜ใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค + - + ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค - - 158 - ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆtuberous sclerosis complex๏ผšTSC๏ผ‰ใฏใ€ๅŽŸๅ› ้บไผๅญTSC1ใ€TSC2ใฎ็”ฃ็”Ÿใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใƒใƒžใƒซใƒใƒณใ€ใƒใƒฅใƒ™ใƒชใƒณใฎ่ค‡ๅˆไฝ“ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ไธ‹ๆตใฎmTORC1ใฎๆŠ‘ๅˆถใŒใจใ‚Œใ‚‹ใŸใ‚ใซใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใชใฉใฎ่กŒๅ‹•็•ฐๅธธใ‚„ใ€ไธŠ่กฃไธ‹ๅทจ็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ๏ผˆSEGA๏ผ‰ใ€่…Ž่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ€ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใ€้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใชใฉใฎ้Ž่ชค่…ซใ‚’ๅ…จ่บซใซ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200607 - + + 158 + ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆtuberous sclerosis complex๏ผšTSC๏ผ‰ใฏใ€ๅŽŸๅ› ้บไผๅญTSC1ใ€TSC2ใฎ็”ฃ็”Ÿใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใƒใƒžใƒซใƒใƒณใ€ใƒใƒฅใƒ™ใƒชใƒณใฎ่ค‡ๅˆไฝ“ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ไธ‹ๆตใฎmTORC1ใฎๆŠ‘ๅˆถใŒใจใ‚Œใ‚‹ใŸใ‚ใซใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใชใฉใฎ่กŒๅ‹•็•ฐๅธธใ‚„ใ€ไธŠ่กฃไธ‹ๅทจ็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ๏ผˆSEGA๏ผ‰ใ€่…Ž่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ€ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใ€้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใชใฉใฎ้Ž่ชค่…ซใ‚’ๅ…จ่บซใซ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200607 + Tuberous Sclerosis Complex + ใ‘ใฃใ›ใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ - + - + Tuberous sclerosis - ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ - - 159 - ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ใฏใ€ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ๏ผ˜ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ‚ฟใ‚คใƒ—ใซใ‚ˆใ‚Šๆง˜ใ€…ใช็ฅž็ตŒ็—‡็Šถใ‚’ๆฅใ™ใ“ใจใ‚‚ใ‚ใ‚‹ๅ…จ่บซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200608 - + + 159 + ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ใฏใ€ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ๏ผ˜ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ‚ฟใ‚คใƒ—ใซใ‚ˆใ‚Šๆง˜ใ€…ใช็ฅž็ตŒ็—‡็Šถใ‚’ๆฅใ™ใ“ใจใ‚‚ใ‚ใ‚‹ๅ…จ่บซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200608 + Xeroderma pigmentosum + ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ† ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ + - + ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ - - 160 - ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€็šฎ่†šใฎใƒใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ€‚ๅ‡บ็”Ÿๆ™‚ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซใ€ๅ…จ่บซๅˆใฏๅบƒ็ฏ„ๅ›ฒใฎ็šฎ่†šใŒๅŽšใ„่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ไปฅไธ‹ใฎ๏ผ”็ดฐๅˆ†้กžใ‚’ๅซใ‚€ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็ดฐๅˆ†้กž๏ผ‘๏ผšใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ๏ผˆ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€งใƒปๅŠฃๆ€ง๏ผ‰ใ€่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ’๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ ็ดฐๅˆ†้กž๏ผ“๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ใ€่‘‰็Šถ้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ”๏ผš้ญš้ฑ—็™ฌ็—‡ๅ€™็พค๏ผˆใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พคใ€ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พคใ€KID๏ผˆkeratitis-ichtyosis-deafness๏ผ‰็—‡ๅ€™็พคใ€ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พคใ€ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ใ€ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใ€ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature๏ผˆIBID๏ผ‰ใ€Trichothiodystrophyใ€ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌใ€CHILD๏ผˆcongenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects๏ผ‰็—‡ๅ€™็พคใ€Conradi-Hรผnermann-Happle็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰ - 1200609 - + + 160 + ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€็šฎ่†šใฎใƒใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ€‚ๅ‡บ็”Ÿๆ™‚ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซใ€ๅ…จ่บซๅˆใฏๅบƒ็ฏ„ๅ›ฒใฎ็šฎ่†šใŒๅŽšใ„่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ไปฅไธ‹ใฎ๏ผ”็ดฐๅˆ†้กžใ‚’ๅซใ‚€ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็ดฐๅˆ†้กž๏ผ‘๏ผšใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ๏ผˆ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€งใƒปๅŠฃๆ€ง๏ผ‰ใ€่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ’๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ ็ดฐๅˆ†้กž๏ผ“๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ใ€่‘‰็Šถ้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ”๏ผš้ญš้ฑ—็™ฌ็—‡ๅ€™็พค๏ผˆใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พคใ€ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พคใ€KID๏ผˆkeratitis-ichtyosis-deafness๏ผ‰็—‡ๅ€™็พคใ€ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พคใ€ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ใ€ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใ€ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature๏ผˆIBID๏ผ‰ใ€Trichothiodystrophyใ€ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌใ€CHILD๏ผˆcongenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects๏ผ‰็—‡ๅ€™็พคใ€Conradi-Hรผnermann-Happle็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰ + NANDO:1200609 + Congenital ichthyosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ - + ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ - - 160 - 1200610 - + + 160 + NANDO:1200610 + Keratinopathic ichthyosis + ใ‘ใ‚‰ใกใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ + - + ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ - - 160 - 1200611 - - Autosomalย dominant epidermolytic ichthyosis + + 160 + NANDO:1200611 + + Autosomal dominant epidermolytic ichthyosis + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ - + - - + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ - - 160 - 1200612 - + + 160 + NANDO:1200612 + Autosomal recessive epidermolytic ichthyosis + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ + - + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ - - 160 - 1200613 - + + 160 + NANDO:1200613 + Superficial epidermolytic ichthyosis + ใฒใ‚‡ใ†ใ–ใ„ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ + - + ่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ - - 160 - 1200614 - + + 160 + NANDO:1200614 + Harlequin ichthyosis + ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ + - + ้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ - - 160 - 1200615 - - Autosomal recessive congenital ichthyosis + + 160 + NANDO:1200615 + + Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis + ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ„ใŒใ„ใฎใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ - - + + ้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ - - 160 - 1200616 - + + 160 + NANDO:1200616 + Congenital Ichthyosiform Erythroderma + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ‚ˆใ†ใ“ใ†ใฒใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ - + ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ - - 160 - 1200617 - + + 160 + NANDO:1200617 + Lamellar ichthyosis + ใ‚ˆใ†ใ˜ใ‚‡ใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ่‘‰็Šถ้ญš้ฑ—็™ฌ - + ่‘‰็Šถ้ญš้ฑ—็™ฌ - - 160 - 1200618 - + + 160 + NANDO:1200618 + Ichthyosis syndrome + ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ญš้ฑ—็™ฌ็—‡ๅ€™็พค - + ้ญš้ฑ—็™ฌ็—‡ๅ€™็พค - - 160 - 1200619 - + + 160 + NANDO:1200619 + Netherton syndrome + ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค + + - - - + + + Netherton็—‡ๅ€™็พค ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค - - 160 - 1200620 - + + 160 + NANDO:1200620 + Sjรถgren-Larsson syndrome + ใ—ใ‡ใƒผใใ‚Œใ‚“ใƒปใ‚‰ใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค + - + Sjogren-Larsson syndrome ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค - - 160 - 1200621 - + + 160 + NANDO:1200621 + KID็—‡ๅ€™็พค Keratitis-ichthyosis-deafness syndrome + ใ‘ใƒผใ‚ใ„ใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + KID syndrome KID็—‡ๅ€™็พค - - 160 - 1200622 - + + 160 + NANDO:1200622 + Dorfman-Chanarin syndrome + ใฉใ‚‹ใตใพใ‚“ใƒปใ—ใ‚ƒใชใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค + - + Chanarin-Dorfman Syndrome ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค - - 160 - 1200623 - + + 160 + NANDO:1200623 + Neutral lipid storage disease with ichthyosis + ใกใ‚…ใ†ใ›ใ„ใ—ใผใ†ใกใใ›ใใ—ใ‚‡ใ† ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ - + NLSDI ichthyotic neutral lipid storage disease ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ - - 160 - 1200624 - + + 160 + NANDO:1200624 + Multiple sulfatase deficiency - ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + ใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + - + + ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - - 160 - 1200625 - + + 160 + NANDO:1200625 + Recessive X-linked ichtyosis X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ‚Œใฃใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + + X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค - - 160 - 1200626 - + + 160 + NANDO:1200626 + IBID ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature + ใ‚ใ„ใณใƒผใ‚ใ„ใงใƒใƒผ - + IBID + IBID - - 160 - 1200627 - + + 160 + NANDO:1200627 + Trichothiodystrophy + ใ„ใŠใ†ใ‘ใคใผใ†ใ›ใ„ใ‚‚ใ†ใฏใคใฏใคใ„ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡ + - + Trichothiodystrophy - ็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡ - - 160 - 1200628 - + + 160 + NANDO:1200628 + Ichthyosis Follicularis + ใ‚‚ใ†ใปใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ + - + + ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ - - 160 - 1200629 - + + 160 + NANDO:1200629 + + CHILD syndrome CHILD็—‡ๅ€™็พค - congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome + ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + - - CHILD syndrome + + Congenital hemidysplasia with ichthyosiform nevus and limb defects - CHILD็—‡ๅ€™็พค - - 160 - 1200630 - + + 160 + NANDO:1200630 + Conradi Hรผnermann Happle syndrome Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค + ใ“ใ‚“ใ‚‰ใƒผใงใƒใฒใ‚…ใƒผใญใ‚‹ใพใ‚“ใฏใฃใทใ‚‹็—‡ๅ€™็พค - + Conradi Hunermann Happle syndrome Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค - - 161 - ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก๏ผˆใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็šฎ่†š็–พๆ‚ฃใงใ€็”Ÿไธ‹ๆ™‚ใซใฏ็šฎ่†š็—…ๅค‰ใฏใชใ้’ๅฃฎๅนดๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…‹็ชฉใƒป้™ฐ่‚ก้ƒจใƒป้ ธ้ƒจใƒป่‚›ๅ›ฒใชใฉใฎ้–“ๆ“ฆ้ƒจใซๅฐๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ€็—‚็šฎใ‚’ๅฝขๆˆใ™ใ‚‹ใŒใ€ใ‚ˆใ‚Šๅบƒ็ฏ„ๅ›ฒใซ็šฎ่†š็—…ๅค‰ใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้€šๅธธใ€ไบˆๅพŒ่‰ฏๅฅฝใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅคๅญฃใซๆ‚ชๅŒ–ใ—ใ€็ดซๅค–็ทšๆ›้œฒใ‚„ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ€ไบŒๆฌกๆ„ŸๆŸ“ใŒๅข—ๆ‚ชๅ› ๅญใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏใ€่กจ็šฎๅŸบๅบ•ๅฑค็›ดไธŠใ‹ใ‚‰ไธŠๅฑคใฎๆฃ˜่ž่งฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏATP2C1ใงใ‚ใ‚‹ใ€‚ - 1200631 - + + 161 + ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก๏ผˆใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็šฎ่†š็–พๆ‚ฃใงใ€็”Ÿไธ‹ๆ™‚ใซใฏ็šฎ่†š็—…ๅค‰ใฏใชใ้’ๅฃฎๅนดๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…‹็ชฉใƒป้™ฐ่‚ก้ƒจใƒป้ ธ้ƒจใƒป่‚›ๅ›ฒใชใฉใฎ้–“ๆ“ฆ้ƒจใซๅฐๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ€็—‚็šฎใ‚’ๅฝขๆˆใ™ใ‚‹ใŒใ€ใ‚ˆใ‚Šๅบƒ็ฏ„ๅ›ฒใซ็šฎ่†š็—…ๅค‰ใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้€šๅธธใ€ไบˆๅพŒ่‰ฏๅฅฝใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅคๅญฃใซๆ‚ชๅŒ–ใ—ใ€็ดซๅค–็ทšๆ›้œฒใ‚„ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ€ไบŒๆฌกๆ„ŸๆŸ“ใŒๅข—ๆ‚ชๅ› ๅญใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏใ€่กจ็šฎๅŸบๅบ•ๅฑค็›ดไธŠใ‹ใ‚‰ไธŠๅฑคใฎๆฃ˜่ž่งฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏATP2C1ใงใ‚ใ‚‹ใ€‚ + NANDO:1200631 + Benign Familial Pemphigus + ใ‹ใžใใ›ใ„ใ‚Šใ‚‡ใ†ใ›ใ„ใพใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ† ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก - + Familial benign chronic pemphigus Hailey-Hailey disease ใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—… ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก - - 162 - ่กจ็šฎๅŸบๅบ•่†œๆง‹ๆˆใ‚ฟใƒณใƒ‘ใ‚ฏใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆIgG๏ผ‰ใซใ‚ˆใฃใฆใ€่กจ็šฎไธ‹ๆฐด็–ฑใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑ็—‡ใ€‚ๅ…จ่บซใฎ็šฎ่†šๅŠใณ็ฒ˜่†œใซใ€ๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹ใ€‚้กžๅคฉ็–ฑ็˜กใซใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็šฎ่†šใซ็—‡็Šถ๏ผ‰ใจ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็ฒ˜่†œใซ็—‡็Šถ๏ผ‰ใฎไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜กใจ่‡จๅบŠ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€็—…็†ๅญฆ็š„ๆ‰€่ฆ‹ใ€่›ๅ…‰ๆŠ—ไฝ“ๆณ•ๆ‰€่ฆ‹ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€็พๆ™‚็‚นใงใฏๅŒไธ€ใฎ็–พ็—…ใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ - 1200632 - - Pemphigoid ๏ผˆincluding Epidermolysis Bullosa Acquisita๏ผ‰ + + 162 + ่กจ็šฎๅŸบๅบ•่†œๆง‹ๆˆใ‚ฟใƒณใƒ‘ใ‚ฏใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆIgG๏ผ‰ใซใ‚ˆใฃใฆใ€่กจ็šฎไธ‹ๆฐด็–ฑใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑ็—‡ใ€‚ๅ…จ่บซใฎ็šฎ่†šๅŠใณ็ฒ˜่†œใซใ€ๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹ใ€‚้กžๅคฉ็–ฑ็˜กใซใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็šฎ่†šใซ็—‡็Šถ๏ผ‰ใจ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็ฒ˜่†œใซ็—‡็Šถ๏ผ‰ใฎไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜กใจ่‡จๅบŠ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€็—…็†ๅญฆ็š„ๆ‰€่ฆ‹ใ€่›ๅ…‰ๆŠ—ไฝ“ๆณ•ๆ‰€่ฆ‹ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€็พๆ™‚็‚นใงใฏๅŒไธ€ใฎ็–พ็—…ใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ + NANDO:1200632 + + Pemphigoid (including Epidermolysis bullosa acquisita) + ใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ† ้กžๅคฉ็–ฑ็˜ก - + Pemphigoid - ้กžๅคฉ็–ฑ็˜ก - - 162 - 1200633 - + + 162 + NANDO:1200633 + bullous pemphigoid + ใ™ใ„ใปใ†ใ›ใ„ใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ† ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก - + ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก - - 162 - 1200634 - + + 162 + NANDO:1200634 + mucous membrane pemphigoid + ใญใ‚“ใพใใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ† ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก - + ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก - - 162 - 1200635 - + + 162 + NANDO:1200635 + Epidermolysis bullosa acquisita + ใ“ใ†ใฆใ‚“ใ›ใ„ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ - - + + ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ - - 163 - ็™บๆฑ—ใ‚’ไฟƒใ™็’ฐๅขƒไธ‹๏ผˆ้ซ˜ๆธฉใ€ๅคšๆนฟ๏ผ‰ใซใŠใ„ใฆใ‚‚ใ€็™บๆฑ—ใŒใฟใ‚‰ใ‚Œใชใ„็–พๆ‚ฃใ‚’็„กๆฑ—็—‡ใจใ„ใ†ใ€‚ใพใ‚Œใช็–พๆ‚ฃใง็™บ็—‡็Ž‡ใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใ€‚็„กๆฑ—ใฎใŸใ‚ใ€็šฎ่†šใฏไนพ็‡ฅใ—ใ€ๆ™‚ใซใฏใ‚ณใƒชใƒณๆ€ง่•้บป็–นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€้ซ˜ๆธฉใฎ็’ฐๅขƒไธ‹ใซใŠใ„ใฆไฝ“ๆธฉ่ชฟ็ฏ€ใŒใงใใš็†ฑไธญ็—‡ใ‚’ๅฎนๆ˜“ใซ็™บ็—‡ใ—็™บ็†ฑใ€่„ฑๅŠ›ๆ„Ÿใ€็–ฒๅŠดๆ„Ÿใ€ใ‚ใพใ„ใ€ๅ‹•ๆ‚ธใ•ใ‚‰ใซใฏๆ„่ญ˜้šœๅฎณใชใฉ้‡็ฏคใช็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅคใซใฏๅค–ๅ‡บใงใใชใใชใ‚‹ใชใฉใฎ็”Ÿๆดปใฎๅˆถ้™ใŒใ‚ใ‚ŠQOLใŒ่‘—ใ—ใๆใชใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†้กžใ•ใ‚Œๅ…ˆๅคฉๆ€ง็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใ€ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฎๅŽŸๅ› ใฏใ‚จใ‚ฏใƒชใƒณๆฑ—่…บใฎ็•ฐๅธธใ€ไบคๆ„Ÿ็ฅž็ตŒใฎ็•ฐๅธธใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใฎ็™บๆฑ—้šœๅฎณใจๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซใ€็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใชใๆฒป็™‚ใซ่‹ฆๆ…ฎใ™ใ‚‹็–พๆ‚ฃใงใ‚ใฃใŸใ€‚็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏใ€็‰น็™บๆ€งๅˆ†็ฏ€ๅž‹็„กๆฑ—็—‡ใจidiopathic pure sudomtor fairlure๏ผˆIPSF๏ผ‰ใชใฉใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใใฎ็—…ๆ…‹ใฏๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใชใ„ใ€‚ - 1200636 - + + 163 + ็™บๆฑ—ใ‚’ไฟƒใ™็’ฐๅขƒไธ‹๏ผˆ้ซ˜ๆธฉใ€ๅคšๆนฟ๏ผ‰ใซใŠใ„ใฆใ‚‚ใ€็™บๆฑ—ใŒใฟใ‚‰ใ‚Œใชใ„็–พๆ‚ฃใ‚’็„กๆฑ—็—‡ใจใ„ใ†ใ€‚ใพใ‚Œใช็–พๆ‚ฃใง็™บ็—‡็Ž‡ใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใ€‚็„กๆฑ—ใฎใŸใ‚ใ€็šฎ่†šใฏไนพ็‡ฅใ—ใ€ๆ™‚ใซใฏใ‚ณใƒชใƒณๆ€ง่•้บป็–นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€้ซ˜ๆธฉใฎ็’ฐๅขƒไธ‹ใซใŠใ„ใฆไฝ“ๆธฉ่ชฟ็ฏ€ใŒใงใใš็†ฑไธญ็—‡ใ‚’ๅฎนๆ˜“ใซ็™บ็—‡ใ—็™บ็†ฑใ€่„ฑๅŠ›ๆ„Ÿใ€็–ฒๅŠดๆ„Ÿใ€ใ‚ใพใ„ใ€ๅ‹•ๆ‚ธใ•ใ‚‰ใซใฏๆ„่ญ˜้šœๅฎณใชใฉ้‡็ฏคใช็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅคใซใฏๅค–ๅ‡บใงใใชใใชใ‚‹ใชใฉใฎ็”Ÿๆดปใฎๅˆถ้™ใŒใ‚ใ‚ŠQOLใŒ่‘—ใ—ใๆใชใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†้กžใ•ใ‚Œๅ…ˆๅคฉๆ€ง็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใ€ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฎๅŽŸๅ› ใฏใ‚จใ‚ฏใƒชใƒณๆฑ—่…บใฎ็•ฐๅธธใ€ไบคๆ„Ÿ็ฅž็ตŒใฎ็•ฐๅธธใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใฎ็™บๆฑ—้šœๅฎณใจๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซใ€็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใชใๆฒป็™‚ใซ่‹ฆๆ…ฎใ™ใ‚‹็–พๆ‚ฃใงใ‚ใฃใŸใ€‚็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏใ€็‰น็™บๆ€งๅˆ†็ฏ€ๅž‹็„กๆฑ—็—‡ใจidiopathic pure sudomtor fairlure๏ผˆIPSF๏ผ‰ใชใฉใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใใฎ็—…ๆ…‹ใฏๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใชใ„ใ€‚ + NANDO:1200636 + Acquired Idiopathic Generalized Anhidrosis + ใจใใฏใคใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ† ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ - + Idiopathic acquired systemic anhidrosis Idiopathic pure sudomotor failure ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ - - 164 - ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซใฎ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใ€้’ใ‹ใ‚‰็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€่ฆ–ๅŠ›้šœๅฎณใ€็™ฝใ‹ใ‚‰่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 1200637 - + + 164 + ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซใฎ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใ€้’ใ‹ใ‚‰็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€่ฆ–ๅŠ›้šœๅฎณใ€็™ฝใ‹ใ‚‰่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:1200637 + Oculocutaneous albinism + ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ† ็œผ็šฎ่†š็™ฝ็šฎ็—‡ + - + ็œผ็šฎ่†š็™ฝ็šฎ็—‡ - - 164 - 1200638 - + + 164 + NANDO:1200638 + Hermansky-Pudlak syndrome + ใธใ‚‹ใพใ‚“ใ™ใใƒผใƒปใฑใฉใ‚‰ใฃใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค - + ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค - - 164 - 1200639 - + + 164 + NANDO:1200639 + Chรฉdiak-Higashi syndrome + ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค + + - - - + + + CHS ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค - - 164 - 1200640 - + + 164 + NANDO:1200640 + Griscelli syndrome + ใใ‚Šใ›ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค - + ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค - - 164 - 1200641 - - non-syndromicย oculocutaneous albinism - ้ž็—‡ๅ€™ๅž‹ใฎ็œผ็šฎ่†š็™ฝ็šฎ็—‡ + + 164 + NANDO:1200641 + + non-syndromic oculocutaneous albinism + ใฒใ—ใ‚‡ใ†ใ“ใ†ใŒใŸใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ† + ้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ - + ้ž็—‡ๅ€™ๆ€ง็œผ็šฎ่†š็™ฝ็šฎ็—‡ - ้ž็—‡ๅ€™ๅž‹ใฎ็œผ็šฎ่†š็™ฝ็šฎ็—‡ + ้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ - - 165 - ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽšๆ€งๅค‰ๅŒ–๏ผˆ้ ญ้ƒจ่„ณๅ›ž่ปข็Šถ็šฎ่†šใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1868ๅนดใ€FriedreichใŒ๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ใใฎๅพŒใ€็จฎใ€…ใฎๅ็งฐใงๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸๅฝ“่ฉฒ็–พๆ‚ฃใฏ1935ๅนดTouraineใ‚‰ใซใ‚ˆใฃใฆ่‡จๅบŠไบœๅž‹ใ‚’็”จใ„ใŸๆœฌ็—‡ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ - 1200642 - + + 165 + ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽšๆ€งๅค‰ๅŒ–๏ผˆ้ ญ้ƒจ่„ณๅ›ž่ปข็Šถ็šฎ่†šใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1868ๅนดใ€FriedreichใŒ๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ใใฎๅพŒใ€็จฎใ€…ใฎๅ็งฐใงๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸๅฝ“่ฉฒ็–พๆ‚ฃใฏ1935ๅนดTouraineใ‚‰ใซใ‚ˆใฃใฆ่‡จๅบŠไบœๅž‹ใ‚’็”จใ„ใŸๆœฌ็—‡ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ + NANDO:1200642 + Pachydermoperiostosis + ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ† ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡ + - + ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡ - - 166 - ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ๏ผˆPXE๏ผ‰ใฏใ€ๅผพๆ€ง็ทš็ถญใซๅค‰ๆ€งใƒป็Ÿณ็ฐๅŒ–ใŒ็”Ÿใ˜็ต„็น”้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใใฎใŸใ‚็šฎ่†šใ€็œผใ€ๅฟƒใƒป่ก€็ฎกใ€ๆถˆๅŒ–็ฎกใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200643 - + + 166 + ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ๏ผˆPXE๏ผ‰ใฏใ€ๅผพๆ€ง็ทš็ถญใซๅค‰ๆ€งใƒป็Ÿณ็ฐๅŒ–ใŒ็”Ÿใ˜็ต„็น”้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใใฎใŸใ‚็šฎ่†šใ€็œผใ€ๅฟƒใƒป่ก€็ฎกใ€ๆถˆๅŒ–็ฎกใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200643 + Pseudoxanthoma elasticum + ใ ใ‚“ใ›ใ„ใ›ใ‚“ใ„ใ›ใ„ใ‹ใ›ใ„ใŠใ†ใ—ใ‚‡ใใ—ใ‚… ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ - - - + ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ - - 167 - ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใ™ใ€‚ - 1200644 - - Marfan's Syndrome + + 167 + ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใ™ใ€‚ + NANDO:1200644 + + Marfan syndrome + ใพใ‚‹ใตใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค + + - - Marfan syndrome + ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค - - 168 - ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค๏ผˆEhlers-Danlos syndrome๏ผšEDS๏ผ‰ใฏใ€็šฎ่†šใ€้–ข็ฏ€ใ€่ก€็ฎกใชใฉๅ…จ่บซ็š„ใช็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใซๅŸบใฅใ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅŽŸๅ› ใจ็—‡็Šถใ‹ใ‚‰ใ€๏ผ–ใคใฎไธป็—…ๅž‹๏ผˆๅคๅ…ธๅž‹ใ€้–ข็ฏ€ๅž‹ใ€่ก€็ฎกๅž‹ใ€ๅพŒๅดๅฝŽๅž‹ใ€ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ€็šฎ่†š่„†ๅผฑๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ…จ็—…ๅž‹ใ‚’ๅˆใ‚ใ›ใŸๆŽจๅฎš้ ปๅบฆใฏ็ด„๏ผ‘/5,000ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆœ€่ฟ‘ใ€้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญ็ ”็ฉถ็ญใซใŠใ„ใฆ่ฆ‹ๅ‡บใ—ใ€็–พๆ‚ฃๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸใ€ŒD4ST1ๆฌ ๆใซๅŸบใฅใEDS๏ผˆDDEDS๏ผ‰ใ€ใ‚’ๅซใ‚ใ€ๆ–ฐใŸใช็—…ๅž‹ใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200645 + + 168 + ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค๏ผˆEhlers-Danlos syndrome๏ผšEDS๏ผ‰ใฏใ€็šฎ่†šใ€้–ข็ฏ€ใ€่ก€็ฎกใชใฉๅ…จ่บซ็š„ใช็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใซๅŸบใฅใ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅŽŸๅ› ใจ็—‡็Šถใ‹ใ‚‰ใ€๏ผ–ใคใฎไธป็—…ๅž‹๏ผˆๅคๅ…ธๅž‹ใ€้–ข็ฏ€ๅž‹ใ€่ก€็ฎกๅž‹ใ€ๅพŒๅดๅฝŽๅž‹ใ€ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ€็šฎ่†š่„†ๅผฑๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ…จ็—…ๅž‹ใ‚’ๅˆใ‚ใ›ใŸๆŽจๅฎš้ ปๅบฆใฏ็ด„๏ผ‘/5,000ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆœ€่ฟ‘ใ€้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญ็ ”็ฉถ็ญใซใŠใ„ใฆ่ฆ‹ๅ‡บใ—ใ€็–พๆ‚ฃๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸใ€ŒD4ST1ๆฌ ๆใซๅŸบใฅใEDS๏ผˆDDEDS๏ผ‰ใ€ใ‚’ๅซใ‚ใ€ๆ–ฐใŸใช็—…ๅž‹ใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200645 Ehlers-Danlos Syndrome + ใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + - + + EDS ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 168 - 1200646 - - Ehlers-Danlos syndrome, classic type + + 168 + NANDO:1200646 + + Ehlers-Danlos syndrome, classical type + ใ“ใฆใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + - - Ehlers-Danlos Syndrome (Classical type) + + classical EDS ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 168 - 1200647 - + + 168 + NANDO:1200647 + Ehlers-Danlos syndrome, hypermobility type + ใ‹ใ‚“ใ›ใคใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + - - Ehlers-Danlos Syndrome (Hypermobility type) + + Hypermobile EDS ้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 168 - 1200648 - + + 168 + NANDO:1200648 + Ehlers-Danlos syndrome, vascular type + ใ‘ใฃใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - + - - Ehlers-Danlos Syndrome (Vascular type) - + + Vascular EDS ่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 168 - 1200649 - + + 168 + NANDO:1200649 + Ehlers-Danlos syndrome, kyphoscoliotic type + ใ“ใ†ใใใ‚ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + - - Ehlers-Danlos Syndrome (Kyphoscoliosis tyep) + + Kyphoscoliosis EDS + ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 168 - 1200650 - + + 168 + NANDO:1200650 + Ehlers-Danlos syndrome, arthrochalasis type + ใŸใฏใคใ‹ใ‚“ใ›ใคใ—ใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - + + - - Ehlers-Danlos Syndrome (Arthrochalasia type) + + Arthrochalasia EDS - ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 168 - 1200651 - + + 168 + NANDO:1200651 + Ehlers-Danlos syndrome, dermatosparaxis type + ใฒใตใœใ„ใ˜ใ‚ƒใใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + - - Ehlers-Danlos Syndrome (Dermatosparaxis type) + + Dermatosparaxis EDS ็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 168 - 1200652 - - Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome + + 168 + NANDO:1200652 + + Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome + ใงใ‚‹ใพใŸใ‚“4ใŠใƒผใ‚Šใ‚…ใ†ใ•ใ‚“ใใฆใ‚“ใ„ใ“ใ†ใ1ใ‘ใฃใใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + - + + ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 169 - ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฏใ€้Š…่ผธ้€ATPaseใฎ๏ผ‘ใคใงใ‚ใ‚‹ATP7A้บไผๅญ็•ฐๅธธใงใ€XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใฎใงใ€ๆ‚ฃ่€…ใฏๅŽŸๅ‰‡็”ทๅ…ใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใงใฎ้Š…่ผธ้€้šœๅฎณใฎใŸใ‚ใ€ๆ‘‚ๅ–ใ—ใŸ้Š…ใฏ่…ธ็ฒ˜่†œใซ่“„็ฉใ—ใ€ไฝ“ๅ†…ใซ่ผธ้€ใ•ใ‚Œใชใ„ใ€‚ใใฎ็ตๆžœใ€้‡็ฏคใช้Š…ๆฌ ไนใซใ‚ˆใ‚Šใ€้Š…้…ต็ด ๆดปๆ€งใŒไฝŽไธ‹ใ—ใ€้‡ๅบฆใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ€่ก€็ฎก็•ฐๅธธใƒป่†€่ƒฑๆ†ฉๅฎคใƒป้ชจ็ฒ—้ฌ†็—‡็ญ‰ใฎ็ตๅˆ็น”็•ฐๅธธใ€็‰นๅพด็š„้ ญ้ซช็•ฐๅธธใชใฉใŒๅ‡บ็พใ™ใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏๆฏไฝ“็”ฑๆฅใฎ้Š…ใŒๆถˆๅคฑใ™ใ‚‹็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ใ‹ๆœˆใ‹ใ‚‰ใฏ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใƒ’ใ‚นใƒใ‚ธใƒณ้Š…ใฎ็šฎไธ‹ๆณจๅฐ„ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆฒป็™‚้–‹ๅง‹ใŒ็ฅž็ตŒ็—‡็Šถๅ‡บ็พๅพŒใงใฏ็ฅž็ตŒ้šœๅฎณใซๅฏพใ—ใฆๅ…จใๅŠนๆžœใŒใชใ„ใ€‚ - 1200653 - - Menkes' Disease + + 169 + ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฏใ€้Š…่ผธ้€ATPaseใฎ๏ผ‘ใคใงใ‚ใ‚‹ATP7A้บไผๅญ็•ฐๅธธใงใ€XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใฎใงใ€ๆ‚ฃ่€…ใฏๅŽŸๅ‰‡็”ทๅ…ใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใงใฎ้Š…่ผธ้€้šœๅฎณใฎใŸใ‚ใ€ๆ‘‚ๅ–ใ—ใŸ้Š…ใฏ่…ธ็ฒ˜่†œใซ่“„็ฉใ—ใ€ไฝ“ๅ†…ใซ่ผธ้€ใ•ใ‚Œใชใ„ใ€‚ใใฎ็ตๆžœใ€้‡็ฏคใช้Š…ๆฌ ไนใซใ‚ˆใ‚Šใ€้Š…้…ต็ด ๆดปๆ€งใŒไฝŽไธ‹ใ—ใ€้‡ๅบฆใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ€่ก€็ฎก็•ฐๅธธใƒป่†€่ƒฑๆ†ฉๅฎคใƒป้ชจ็ฒ—้ฌ†็—‡็ญ‰ใฎ็ตๅˆ็น”็•ฐๅธธใ€็‰นๅพด็š„้ ญ้ซช็•ฐๅธธใชใฉใŒๅ‡บ็พใ™ใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏๆฏไฝ“็”ฑๆฅใฎ้Š…ใŒๆถˆๅคฑใ™ใ‚‹็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ใ‹ๆœˆใ‹ใ‚‰ใฏ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใƒ’ใ‚นใƒใ‚ธใƒณ้Š…ใฎ็šฎไธ‹ๆณจๅฐ„ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆฒป็™‚้–‹ๅง‹ใŒ็ฅž็ตŒ็—‡็Šถๅ‡บ็พๅพŒใงใฏ็ฅž็ตŒ้šœๅฎณใซๅฏพใ—ใฆๅ…จใๅŠนๆžœใŒใชใ„ใ€‚ + NANDO:1200653 + + Menkes disease + ใ‚ใ‚“ใ‘ใ™ใณใ‚‡ใ† ใƒกใƒณใ‚ฑใ‚น็—… + - - Menkes disease + ใƒกใƒณใ‚ฑใ‚น็—… - - 170 - ๆœฌ็—‡ใฏATP7A้บไผๅญ็•ฐๅธธ็—‡ใงใ€ๅŒใ˜้บไผๅญ็•ฐๅธธ็–พๆ‚ฃใงใ‚ใ‚‹ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฎๆฅต่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€ๆœฌ็—‡ใฎๅๅ‰ใฎ็”ฑๆฅใซใชใฃใฆใ„ใ‚‹ใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚‹็ตๅˆ็น”็•ฐๅธธใŒไธป็—‡็Šถใงใ€็šฎ่†š้Žไผธๅฑ•ใ€่ก€็ฎก็•ฐๅธธใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€่†€่ƒฑๆ†ฉๅฎคใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๅคšใใฏๅญฆ็ซฅๆœŸไปฅ้™ใ€็Ÿฅ่ƒฝ้šœๅฎณใฏ่ปฝๅบฆ๏ฝžๆญฃๅธธใงใ‘ใ„ใ‚Œใ‚“ใฏใชใ„ใ€้ ญ้ซช็•ฐๅธธใฏ่ฆ‹ใ‚‰ใ‚Œใชใ„ใชใฉใฎ็‚นใŒใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใจ็•ฐใชใ‚Šใ€็พๆ™‚็‚นใงใฏไธก่€…ใ‚’็ตฑไธ€็š„ใซๅ–ใ‚Šๆ‰ฑใ†็–พๆ‚ฃๆฆ‚ๅฟตใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚็พๅœจๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€็™บ็—‡ใฏๅŽŸๅ‰‡็”ทๆ€งใงใ‚ใ‚‹ใ€‚ - 1200654 - + + 170 + ๆœฌ็—‡ใฏATP7A้บไผๅญ็•ฐๅธธ็—‡ใงใ€ๅŒใ˜้บไผๅญ็•ฐๅธธ็–พๆ‚ฃใงใ‚ใ‚‹ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฎๆฅต่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€ๆœฌ็—‡ใฎๅๅ‰ใฎ็”ฑๆฅใซใชใฃใฆใ„ใ‚‹ใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚‹็ตๅˆ็น”็•ฐๅธธใŒไธป็—‡็Šถใงใ€็šฎ่†š้Žไผธๅฑ•ใ€่ก€็ฎก็•ฐๅธธใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€่†€่ƒฑๆ†ฉๅฎคใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๅคšใใฏๅญฆ็ซฅๆœŸไปฅ้™ใ€็Ÿฅ่ƒฝ้šœๅฎณใฏ่ปฝๅบฆ๏ฝžๆญฃๅธธใงใ‘ใ„ใ‚Œใ‚“ใฏใชใ„ใ€้ ญ้ซช็•ฐๅธธใฏ่ฆ‹ใ‚‰ใ‚Œใชใ„ใชใฉใฎ็‚นใŒใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใจ็•ฐใชใ‚Šใ€็พๆ™‚็‚นใงใฏไธก่€…ใ‚’็ตฑไธ€็š„ใซๅ–ใ‚Šๆ‰ฑใ†็–พๆ‚ฃๆฆ‚ๅฟตใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚็พๅœจๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€็™บ็—‡ใฏๅŽŸๅ‰‡็”ทๆ€งใงใ‚ใ‚‹ใ€‚ + NANDO:1200654 + Occipital horn syndrome + ใŠใใ—ใดใŸใ‚‹ใƒปใปใƒผใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค + - + ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค - - 171 - ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใง้บไผใ™ใ‚‹่ƒ†ๆฑไธญใธใฎ้Š…ๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง้Š…้Žๅ‰ฐ็—‡ใงใ‚ใ‚‹ใ€‚ - 1200655 - - Wilson's Disease + + 171 + ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใง้บไผใ™ใ‚‹่ƒ†ๆฑไธญใธใฎ้Š…ๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง้Š…้Žๅ‰ฐ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:1200655 + + Wilson disease + ใ†ใƒใ‚‹ใใ‚“ใณใ‚‡ใ† ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—… + - - Wilson disease + ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—… - - 172 - ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ใฏใ€้ชจใƒฌใƒณใƒˆใ‚ฒใƒณๆคœๆŸปใง้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ€่ก€ๆถฒๆคœๆŸปใง่ก€ๆธ…ใ‚ขใƒซใ‚ซใƒชใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰ๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ALPใฎๆดปๆ€งไฝŽไธ‹ใซใจใ‚‚ใชใ„่“„็ฉใ™ใ‚‹ใƒ”ใƒญใƒชใƒณ้…ธใŒ็Ÿณ็ฐๅŒ–ใ‚’้šœๅฎณใ™ใ‚‹ใ“ใจใ‚„ใ€ๅฑ€ๆ‰€ใฎใƒชใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ALPใฎๅŸบ่ณชใงใ‚ใ‚‹phosphoethanolamine, inorganic pyrophosphate๏ผˆใƒ”ใƒญใƒชใƒณ้…ธ๏ผ‰, pyridoxal 5'-phosphateใฎไธŠๆ˜‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใŒใ€็จ€ใซๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ - 1200656 - + + 172 + ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ใฏใ€้ชจใƒฌใƒณใƒˆใ‚ฒใƒณๆคœๆŸปใง้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ€่ก€ๆถฒๆคœๆŸปใง่ก€ๆธ…ใ‚ขใƒซใ‚ซใƒชใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰ๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ALPใฎๆดปๆ€งไฝŽไธ‹ใซใจใ‚‚ใชใ„่“„็ฉใ™ใ‚‹ใƒ”ใƒญใƒชใƒณ้…ธใŒ็Ÿณ็ฐๅŒ–ใ‚’้šœๅฎณใ™ใ‚‹ใ“ใจใ‚„ใ€ๅฑ€ๆ‰€ใฎใƒชใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ALPใฎๅŸบ่ณชใงใ‚ใ‚‹phosphoethanolamine, inorganic pyrophosphate๏ผˆใƒ”ใƒญใƒชใƒณ้…ธ๏ผ‰, pyridoxal 5'-phosphateใฎไธŠๆ˜‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใŒใ€็จ€ใซๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200656 + Hypophosphatasia + ใฆใ„ใปใ™ใตใใŸใƒผใœใ—ใ‚‡ใ† ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ + - + ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ - - 173 - VATER็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ• ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ - 1200657 - + + 173 + VATER็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ• ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ + NANDO:1200657 + VATER syndrome VATER็—‡ๅ€™็พค + ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผใตใใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + VATER association VATER็—‡ๅ€™็พค - - 174 - ้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…๏ผˆNasu-Hakola disease๏ผ‰ใฏใ€ๅคš็™บๆ€ง้ชจๅšข่ƒžใซใ‚ˆใ‚‹็—…็š„้ชจๆŠ˜ใจ็™ฝ่ณช่„ณ็—‡ใซใ‚ˆใ‚‹่‹ฅๅนดๆ€ง่ช็Ÿฅ็—‡ใ‚’ไธปๅพดใจใ—ใ€DAP12๏ผˆTYROBP๏ผ‰้บไผๅญๅˆใฏTREM2้บไผๅญใฎๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1970ๅนดไปฃใซใ€้‚ฃ้ ˆๆฏ…ๅšๅฃซใจHakolaๅšๅฃซใซใ‚ˆใ‚Š็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œใ€polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ๏ผˆPLOSL๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏๆœฌ้‚ฆใจๅŒ—ๆฌง๏ผˆใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰๏ผ‰ใซ้›†็ฉใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ‚ฃ่€…ๆ•ฐใฏ็ด„200ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ - 1200658 - + + 174 + ้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…๏ผˆNasu-Hakola disease๏ผ‰ใฏใ€ๅคš็™บๆ€ง้ชจๅšข่ƒžใซใ‚ˆใ‚‹็—…็š„้ชจๆŠ˜ใจ็™ฝ่ณช่„ณ็—‡ใซใ‚ˆใ‚‹่‹ฅๅนดๆ€ง่ช็Ÿฅ็—‡ใ‚’ไธปๅพดใจใ—ใ€DAP12๏ผˆTYROBP๏ผ‰้บไผๅญๅˆใฏTREM2้บไผๅญใฎๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1970ๅนดไปฃใซใ€้‚ฃ้ ˆๆฏ…ๅšๅฃซใจHakolaๅšๅฃซใซใ‚ˆใ‚Š็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œใ€polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ๏ผˆPLOSL๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏๆœฌ้‚ฆใจๅŒ—ๆฌง๏ผˆใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰๏ผ‰ใซ้›†็ฉใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ‚ฃ่€…ๆ•ฐใฏ็ด„200ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200658 + Nasu-Hakola disease + ใชใ™ใƒปใฏใ“ใ‚‰ใณใ‚‡ใ† ้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—… - + ้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—… - - 175 - ใ‚ฆใ‚ฃใƒผใƒใƒผ๏ผˆWeaver๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€่ปฝๅบฆ๏ฝžไธญ็ญ‰ๅบฆใฎ็™บ้”ใฎ้…ใ‚Œใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใปใ‹ใซใ€ๅคง้ ญ็—‡ใ€ไฝŽใ„ๆณฃใๅฃฐใ€ๅฐ้กŽ็—‡ใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใ€ๆŒ‡ใƒปๅ››่‚ข้–ข็ฏ€ไผธๅฑ•ใƒปๆ‹˜็ธฎ๏ผŒไฝ™ๅ‰ฐ็šฎ่†šใ€็ดฐใ็ฒ—ใชๆฏ›้ซชใชใฉใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 1200659 - + + 175 + ใ‚ฆใ‚ฃใƒผใƒใƒผ๏ผˆWeaver๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€่ปฝๅบฆ๏ฝžไธญ็ญ‰ๅบฆใฎ็™บ้”ใฎ้…ใ‚Œใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใปใ‹ใซใ€ๅคง้ ญ็—‡ใ€ไฝŽใ„ๆณฃใๅฃฐใ€ๅฐ้กŽ็—‡ใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใ€ๆŒ‡ใƒปๅ››่‚ข้–ข็ฏ€ไผธๅฑ•ใƒปๆ‹˜็ธฎ๏ผŒไฝ™ๅ‰ฐ็šฎ่†šใ€็ดฐใ็ฒ—ใชๆฏ›้ซชใชใฉใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:1200659 + Weaver syndrome + ใ†ใƒใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค + - + ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค - - 176 - ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฐ้ ญ็—‡ใ€ๅ…ˆ็ดฐใ‚ŠใฎๆŒ‡ใชใฉ้ชจๆ ผ็ณปใฎ็‰นๅพดใ‚’ๆœ‰ใ—ใ€้Ÿณใ‚„่งฆ่ฆšใชใฉใฎๆ€ฅใชๅˆบๆฟ€ใงๆ„่ญ˜ๆถˆๅคฑใ‚’ไผดใ‚ใชใ„่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚ - 1200660 - + + 176 + ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฐ้ ญ็—‡ใ€ๅ…ˆ็ดฐใ‚ŠใฎๆŒ‡ใชใฉ้ชจๆ ผ็ณปใฎ็‰นๅพดใ‚’ๆœ‰ใ—ใ€้Ÿณใ‚„่งฆ่ฆšใชใฉใฎๆ€ฅใชๅˆบๆฟ€ใงๆ„่ญ˜ๆถˆๅคฑใ‚’ไผดใ‚ใชใ„่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚ + NANDO:1200660 + Coffin-Lowry syndrome + ใ“ใตใƒใ‚“ใƒปใ‚ใƒผใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค + - + ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค - - 177 - ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€1969ๅนดใซๅฐ่„ณ่™ซ้ƒจๆฌ ๆใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅคฑ่ชฟใ€็™บ้”ใฎ้…ใ‚Œใ€็œผ็ƒ้‹ๅ‹•็•ฐๅธธใชใฉใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็ถฒ่†œ็•ฐๅธธใ€่…Žๅšข่ƒžใ€่‚้šœๅฎณใ€ๅฃ่…”ๅ‘จๅ›ฒใ€ๆŒ‡๏ผˆ่ถพ๏ผ‰ใชใฉใฎๅน…ๅบƒใ„่‡จๅบŠ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ็–พๆ‚ฃ็พคใซใฏๆ”พๅฐ„็ทšๅญฆ็š„ใช่„ณๅนนใฎๅฝขๆˆ็•ฐๅธธ๏ผˆMTS: Molar Tooth Sign๏ผ‰ใ‚’ๅ…ฑ้€šใซๆœ‰ใ™ใ‚‹็‰นๅพดใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚ใใฎใŸใ‚ใ€ใ“ใฎใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใ‚’ๅซใ‚€ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใ‚’ใ€ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใจใใฎ้–ข้€ฃ็–พๆ‚ฃ๏ผˆJSRD๏ผ‰ใจๅ‘ผใถใ‚ˆใ†ใซใชใฃใŸใ€‚ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅŽŸๅ› ้บไผๅญใฎ้•ใ„ใ‹ใ‚‰28ไบœๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹๏ผˆJBTS1 (OMIM: 213300)ใ€œJBTS28๏ผˆOMIM: 617121๏ผ‰๏ผ‰ใ€‚ใใฎ่‡จๅบŠ็š„็‰นๅพดใฏใ€่„ณ็”ปๅƒใฎMTSใจใ€ๆง˜ใ€…ใช็จ‹ๅบฆใซ็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚JSRDใซใฏใ€ๆœ‰้ฆฌ็—‡ๅ€™็พค๏ผˆOMIM: 243910๏ผ‰ใ€ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค๏ผˆOMIM: 266900๏ผ‰ใ€COACH็—‡ๅ€™็พค๏ผˆOMIM: 216360๏ผ‰ใ€ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค๏ผˆOMIM: 258860๏ผ‰ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใงใฏใ€็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅˆไฝตใ—ใ€ๆˆไบบใงใฏใ€่…Žไธๅ…จใฎใŸใ‚่…Ž้€ๆžใชใ„ใ—่…Ž็งปๆคใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏ1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž๏ผˆใƒใƒ•ใƒญใƒณ็™†๏ผ‰ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€่…Ž้€ๆžใชใฉใ‚’่กŒใ‚ใชใ„ใจๅฐๅ…ๆœŸใพใงใซๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พคใงใฏใ€Leberๅ…ˆๅคฉ็›ฒใ€็ถฒ่†œๅค‰ๆ€ง็—‡ใ€ใƒใƒ•ใƒญใƒณ็™†ใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸใ‚ˆใ‚Šๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่ฆ–่ฆš้šœๅฎณ๏ผˆๅคฑๆ˜Žใ‚’ๅซใ‚€ใ€‚๏ผ‰ใจ่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚COACH็—‡ๅ€™็พคใงใฏใ€็ฒพ็ฅž้…ๆปžใ€ๅฐ่„ณๅคฑ่ชฟใ€่„ˆ็ตก่†œๆฌ ๆใ€่‚็ทš็ถญ็—‡ใ‚’ๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่‚็ทš็ถญ็—‡ใซใ‚ˆใ‚‹้™่„ˆ็˜คใฎๅ‡บ่ก€ใ‚„่‚ไธๅ…จใ€่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใงใฏใ€ๅฃ่“‹่ฃ‚ใชใฉใฎๅฃ่…”็•ฐๅธธใ€้ก”้ขใจๆŒ‡๏ผˆ่ถพ๏ผ‰ๅฅ‡ๅฝขใ€ๅบƒ็ฏ„ใช่„ณๅฝขๆˆ็•ฐๅธธ๏ผˆๅ…จๅ‰่„ณ่ƒž็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚„ไธ‹ๅž‚ไฝ“ใฎ็•ฐๅฝขๆˆ๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๆˆไบบใงใฏ็Ÿฅ็š„้šœๅฎณใซ่ตทๅ› ใ™ใ‚‹็”Ÿๆดปๆ”ฏๆดใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใฎไธ€้ƒจใฏXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ไป–ใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200661 - + + 177 + ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€1969ๅนดใซๅฐ่„ณ่™ซ้ƒจๆฌ ๆใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅคฑ่ชฟใ€็™บ้”ใฎ้…ใ‚Œใ€็œผ็ƒ้‹ๅ‹•็•ฐๅธธใชใฉใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็ถฒ่†œ็•ฐๅธธใ€่…Žๅšข่ƒžใ€่‚้šœๅฎณใ€ๅฃ่…”ๅ‘จๅ›ฒใ€ๆŒ‡๏ผˆ่ถพ๏ผ‰ใชใฉใฎๅน…ๅบƒใ„่‡จๅบŠ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ็–พๆ‚ฃ็พคใซใฏๆ”พๅฐ„็ทšๅญฆ็š„ใช่„ณๅนนใฎๅฝขๆˆ็•ฐๅธธ๏ผˆMTS: Molar Tooth Sign๏ผ‰ใ‚’ๅ…ฑ้€šใซๆœ‰ใ™ใ‚‹็‰นๅพดใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚ใใฎใŸใ‚ใ€ใ“ใฎใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใ‚’ๅซใ‚€ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใ‚’ใ€ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใจใใฎ้–ข้€ฃ็–พๆ‚ฃ๏ผˆJSRD๏ผ‰ใจๅ‘ผใถใ‚ˆใ†ใซใชใฃใŸใ€‚ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅŽŸๅ› ้บไผๅญใฎ้•ใ„ใ‹ใ‚‰28ไบœๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹๏ผˆJBTS1 (OMIM: 213300)ใ€œJBTS28๏ผˆOMIM: 617121๏ผ‰๏ผ‰ใ€‚ใใฎ่‡จๅบŠ็š„็‰นๅพดใฏใ€่„ณ็”ปๅƒใฎMTSใจใ€ๆง˜ใ€…ใช็จ‹ๅบฆใซ็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚JSRDใซใฏใ€ๆœ‰้ฆฌ็—‡ๅ€™็พค๏ผˆOMIM: 243910๏ผ‰ใ€ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค๏ผˆOMIM: 266900๏ผ‰ใ€COACH็—‡ๅ€™็พค๏ผˆOMIM: 216360๏ผ‰ใ€ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค๏ผˆOMIM: 258860๏ผ‰ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใงใฏใ€็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅˆไฝตใ—ใ€ๆˆไบบใงใฏใ€่…Žไธๅ…จใฎใŸใ‚่…Ž้€ๆžใชใ„ใ—่…Ž็งปๆคใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏ1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž๏ผˆใƒใƒ•ใƒญใƒณ็™†๏ผ‰ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€่…Ž้€ๆžใชใฉใ‚’่กŒใ‚ใชใ„ใจๅฐๅ…ๆœŸใพใงใซๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พคใงใฏใ€Leberๅ…ˆๅคฉ็›ฒใ€็ถฒ่†œๅค‰ๆ€ง็—‡ใ€ใƒใƒ•ใƒญใƒณ็™†ใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸใ‚ˆใ‚Šๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่ฆ–่ฆš้šœๅฎณ๏ผˆๅคฑๆ˜Žใ‚’ๅซใ‚€ใ€‚๏ผ‰ใจ่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚COACH็—‡ๅ€™็พคใงใฏใ€็ฒพ็ฅž้…ๆปžใ€ๅฐ่„ณๅคฑ่ชฟใ€่„ˆ็ตก่†œๆฌ ๆใ€่‚็ทš็ถญ็—‡ใ‚’ๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่‚็ทš็ถญ็—‡ใซใ‚ˆใ‚‹้™่„ˆ็˜คใฎๅ‡บ่ก€ใ‚„่‚ไธๅ…จใ€่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใงใฏใ€ๅฃ่“‹่ฃ‚ใชใฉใฎๅฃ่…”็•ฐๅธธใ€้ก”้ขใจๆŒ‡๏ผˆ่ถพ๏ผ‰ๅฅ‡ๅฝขใ€ๅบƒ็ฏ„ใช่„ณๅฝขๆˆ็•ฐๅธธ๏ผˆๅ…จๅ‰่„ณ่ƒž็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚„ไธ‹ๅž‚ไฝ“ใฎ็•ฐๅฝขๆˆ๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๆˆไบบใงใฏ็Ÿฅ็š„้šœๅฎณใซ่ตทๅ› ใ™ใ‚‹็”Ÿๆดปๆ”ฏๆดใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใฎไธ€้ƒจใฏXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ไป–ใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200661 + Joubert Syndrome and related disorders + ใ˜ใ‚…ในใƒผใ‚‹ใ—ใฃใ‹ใ‚“ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ - - + Cerebro-oculo-hepato-renal syndrome - ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ - - 177 - 1200662 - + + 177 + NANDO:1200662 + Arima syndrome + ใ‚ใ‚Šใพใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆœ‰้ฆฌ็—‡ๅ€™็พค - + ๆœ‰้ฆฌ็—‡ๅ€™็พค - - 178 - ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 1200663 - - Mowat Wilson Syndrome + + 178 + ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200663 + + Mowat-Wilson syndrome + ใ‚‚ใ‚ใฃใจใƒปใ†ใƒใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค + + - + ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค - - 179 - ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ๏ผˆWilliams๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ๅŠใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒใ€้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—ใ€็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„ใ€็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 1200664 - + + 179 + ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ๏ผˆWilliams๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ๅŠใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒใ€้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—ใ€็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„ใ€็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200664 + Williams syndrome + ใ†ใƒใ‚Šใ‚ใ‚€ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค + - + ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค - - 180 - ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พคใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พคใฎไธ€ใคใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข๏ผˆHbH็—…๏ผ‰ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 1200665 - + + 180 + ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พคใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พคใฎไธ€ใคใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข๏ผˆHbH็—…๏ผ‰ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:1200665 + ATR-X syndrome - ๏ผก๏ผด๏ผฒโˆ’๏ผธ็—‡ๅ€™็พค + ATR-X็—‡ๅ€™็พค + ใˆใƒผใฆใƒใƒผใ‚ใƒผใ‚‹ใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + Alpha-thalassemia mental retardation syndrome - - ๏ผก๏ผด๏ผฒโˆ’๏ผธ็—‡ๅ€™็พค + ATR-X็—‡ๅ€™็พค - - 181 - ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ - 1200666 - + + 181 + ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:1200666 + Crouzon's Syndrome + ใใ‚‹ใƒผใžใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค - + ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค - - 182 - ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ - 1200667 - + + 182 + ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:1200667 + Apert syndrome + ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค + - + - ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค - - 183 - ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ - 1200668 - + + 183 + ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:1200668 + Pfeiffer syndrome + ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค + - + + Pfeiffer็—‡ๅ€™็พค ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค - - 184 - ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ - 1200669 - + + 184 + ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:1200669 + Antley-Bixler syndrome + ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค - + - + Antley-Bixler Syndrome Phenotype ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค - - 185 - ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200670 - + + 185 + ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200670 + Coffin-Siris Syndrome + ใ“ใตใƒใ‚“ใƒปใ—ใ‚Šใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค - + - - + ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค - - 186 - ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พคใฏใ€ๅฐๆŸ„ใชไฝ“ๅž‹ใ€ๆ—ฅๅ…‰้Žๆ•ๆ€ง็ด…ๆ–‘ใ€ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ใ€้ชจๆ ผ็•ฐๅธธใ€่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผ็—…ใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พคใ€ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พคใŒใ‚ใ‚‹ใŒใ€ๅŒใ˜้บไผๅญๅบงใซ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰็พๆ™‚็‚นใงใฏๅฝ“่ฉฒ็–พๆ‚ฃใซๅซใ‚ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ - 1200671 - + + 186 + ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พคใฏใ€ๅฐๆŸ„ใชไฝ“ๅž‹ใ€ๆ—ฅๅ…‰้Žๆ•ๆ€ง็ด…ๆ–‘ใ€ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ใ€้ชจๆ ผ็•ฐๅธธใ€่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผ็—…ใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พคใ€ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พคใŒใ‚ใ‚‹ใŒใ€ๅŒใ˜้บไผๅญๅบงใซ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰็พๆ™‚็‚นใงใฏๅฝ“่ฉฒ็–พๆ‚ฃใซๅซใ‚ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ + NANDO:1200671 + Rothmund-Thomson syndrome + ใ‚ใ™ใ‚€ใ‚“ใฉใƒปใจใ‚€ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค + - + ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค - - 187 - 1981ๅนดใซๆˆ‘ใŒๅ›ฝใง่ฆ‹ใ„ใ ใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๆญŒ่ˆžไผŽ็—‡ๅ€™็พคใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚Šใ€ๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000็จ‹ๅบฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๅญค็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใ‚ใฆๅฐ‘ๆ•ฐใงใ‚ใ‚‹ใ€‚ - 1200672 - + + 187 + 1981ๅนดใซๆˆ‘ใŒๅ›ฝใง่ฆ‹ใ„ใ ใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๆญŒ่ˆžไผŽ็—‡ๅ€™็พคใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚Šใ€ๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000็จ‹ๅบฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๅญค็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใ‚ใฆๅฐ‘ๆ•ฐใงใ‚ใ‚‹ใ€‚ + NANDO:1200672 + Kabuki syndrome + ใ‹ใถใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค - + - - + ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค - - 188 - ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚ - 1200673 - + + 188 + ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚ + NANDO:1200673 + Polysplenia syndrome + ใŸใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅคš่„พ็—‡ๅ€™็พค - + - - + ๅคš่„พ็—‡ๅ€™็พค - - 189 - ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚ - 1200674 - + + 189 + ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚ + NANDO:1200674 + Asplenia syndrome + ใ‚€ใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็„ก่„พ็—‡ๅ€™็พค - + - - + ็„ก่„พ็—‡ๅ€™็พค - - 190 - ้ฐ“่€ณ่…Ž๏ผˆBranchio-oto-renal๏ผšBOR๏ผ‰็—‡ๅ€™็พคใฏใ€้ ธ็˜ปใƒป่€ณ็˜ปๅญ”ใƒปๅค–่€ณๅฅ‡ๅฝขใชใฉใฎ้ฐ“ๅŽŸๆ€งๅฅ‡ๅฝขใ€ๆง˜ใ€…ใชใ‚ฟใ‚คใƒ—ใฎ้›ฃ่ดใ€่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ™‚ใซ้ก”้ข็ฅž็ตŒ้บป็—บใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใŒใ€ไธ€่ˆฌใซ็Ÿฅ็š„็™บ้”ใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ้›ฃ่ดใธใฎๆ—ฉๆœŸไป‹ๅ…ฅใŒๆ‚ฃ่€…ใฎ่จ€่ชž็™บ้”ใ‚’ๆ”นๅ–„ใ—ใ€ใพใŸ่…Ž็—‡็Šถใฎ้‡็—‡ๅบฆใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹ใ€‚ - 1200675 - + + 190 + ้ฐ“่€ณ่…Ž๏ผˆBranchio-oto-renal๏ผšBOR๏ผ‰็—‡ๅ€™็พคใฏใ€้ ธ็˜ปใƒป่€ณ็˜ปๅญ”ใƒปๅค–่€ณๅฅ‡ๅฝขใชใฉใฎ้ฐ“ๅŽŸๆ€งๅฅ‡ๅฝขใ€ๆง˜ใ€…ใชใ‚ฟใ‚คใƒ—ใฎ้›ฃ่ดใ€่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ™‚ใซ้ก”้ข็ฅž็ตŒ้บป็—บใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใŒใ€ไธ€่ˆฌใซ็Ÿฅ็š„็™บ้”ใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ้›ฃ่ดใธใฎๆ—ฉๆœŸไป‹ๅ…ฅใŒๆ‚ฃ่€…ใฎ่จ€่ชž็™บ้”ใ‚’ๆ”นๅ–„ใ—ใ€ใพใŸ่…Ž็—‡็Šถใฎ้‡็—‡ๅบฆใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹ใ€‚ + NANDO:1200675 + Branchio-oto-renal syndrome + ใ•ใ„ใ˜ใ˜ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ฐ“่€ณ่…Ž็—‡ๅ€™็พค - + BOR syndrome ้ฐ“่€ณ่…Ž็—‡ๅ€™็พค - - 191 - 1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚งใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅพดๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค๏ผˆWerner syndrome๏ผ‰ใฏ็™ฝๅ†…้šœใ‚„็™ฝๆฏ›ใ€่„ฑๆฏ›ใชใฉใ€ๅฎŸๅนด้ฝขใซๆฏ”ในใฆใ€Œ่€ๅŒ–ใŒไฟƒ้€ฒใ•ใ‚ŒใŸใ€ใ‚ˆใ†ใซ่ฆ‹ใˆใ‚‹่ซธ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‹ใ‚‰โ€œๆ—ฉ่€็—‡โ€ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ใŒใ‚“ใ‚„ๅ‹•่„ˆ็กฌๅŒ–ใฎใŸใ‚40ๆญณๅŠใฐใงๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ€ๆ—ฅๆœฌใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ็ด„2,000ๅใงใ‚ใ‚Šใ€ไธ–็•Œใฎๅ ฑๅ‘Šใฎ๏ผ–ๅ‰ฒใŒๆ—ฅๆœฌไบบใงใ‚ใ‚Šๆˆ‘ใŒๅ›ฝใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒ1994ๅนดใซๅŒๅฎšใ•ใ‚ŒใŸใŒใ€ๆ—ฉ่€ๆฉŸๅบใฏๆœช่งฃๆ˜Žใ€ๆ นๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚Šใ€ๅคšใใฎๆ‚ฃ่€…ใŒใ€้›ฃๆฒปๆ€ง็šฎ่†šๆฝฐ็˜ใซไผดใ†ไธ‹่‚ขๅˆ‡ๆ–ญใ‚„ๆ‚ชๆ€ง่…ซ็˜ใ€็ณ–ๅฐฟ็—…ใฎใŸใ‚ใ€็”Ÿๅ‘ฝใฎๅฑๆฉŸๅˆใฏๆญปใ‚’ๅ…ใ‚Œใฆใ‚‚้‡็ฏคใชๅพŒ้บ็—‡ใซ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ - 1200676 - + + 191 + 1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚งใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅพดๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค๏ผˆWerner syndrome๏ผ‰ใฏ็™ฝๅ†…้šœใ‚„็™ฝๆฏ›ใ€่„ฑๆฏ›ใชใฉใ€ๅฎŸๅนด้ฝขใซๆฏ”ในใฆใ€Œ่€ๅŒ–ใŒไฟƒ้€ฒใ•ใ‚ŒใŸใ€ใ‚ˆใ†ใซ่ฆ‹ใˆใ‚‹่ซธ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‹ใ‚‰โ€œๆ—ฉ่€็—‡โ€ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ใŒใ‚“ใ‚„ๅ‹•่„ˆ็กฌๅŒ–ใฎใŸใ‚40ๆญณๅŠใฐใงๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ€ๆ—ฅๆœฌใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ็ด„2,000ๅใงใ‚ใ‚Šใ€ไธ–็•Œใฎๅ ฑๅ‘Šใฎ๏ผ–ๅ‰ฒใŒๆ—ฅๆœฌไบบใงใ‚ใ‚Šๆˆ‘ใŒๅ›ฝใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒ1994ๅนดใซๅŒๅฎšใ•ใ‚ŒใŸใŒใ€ๆ—ฉ่€ๆฉŸๅบใฏๆœช่งฃๆ˜Žใ€ๆ นๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚Šใ€ๅคšใใฎๆ‚ฃ่€…ใŒใ€้›ฃๆฒปๆ€ง็šฎ่†šๆฝฐ็˜ใซไผดใ†ไธ‹่‚ขๅˆ‡ๆ–ญใ‚„ๆ‚ชๆ€ง่…ซ็˜ใ€็ณ–ๅฐฟ็—…ใฎใŸใ‚ใ€็”Ÿๅ‘ฝใฎๅฑๆฉŸๅˆใฏๆญปใ‚’ๅ…ใ‚Œใฆใ‚‚้‡็ฏคใชๅพŒ้บ็—‡ใซ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ + NANDO:1200676 + Werner syndrome + ใ†ใ‡ใ‚‹ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค + - + ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค - - 192 - ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค๏ผˆCockayne syndrome๏ผšCS๏ผ‰ใฏ็ดซๅค–็ทšๆ€งDNAๆๅ‚ทใฎไฟฎๅพฉใ‚ทใ‚นใƒ†ใƒ ใ€็‰นใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰้™คๅŽปไฟฎๅพฉใซใŠใ‘ใ‚‹่ปขๅ†™ๅ…ฑ็›Šไฟฎๅพฉ๏ผˆ่ปขๅ†™้ ˜ๅŸŸใฎDNAๆๅ‚ทใฎๅ„ชๅ…ˆ็š„ใชไฟฎๅพฉ๏ผ‰ใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆ—ฉ่€็—‡ใงใ‚ใ‚‹ใ€‚1936ๅนดใซใ‚คใ‚ฎใƒชใ‚นใฎๅฐๅ…็ง‘ๅŒป Cockayneใซใ‚ˆใ‚Šใ€Œ่ฆ–็ฅž็ตŒใฎ่Ž็ธฎใจ้›ฃ่ดใ‚’ไผดใ„็™บ่‚ฒใŒ่‘—ๆ˜ŽใซไฝŽไธ‹ใ—ใŸ็—‡ไพ‹ใ€ใจใ—ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ๆ—ฅๅ…‰้Žๆ•็—‡ใ€็‰น็•ฐใช่€ไบบๆง˜้ก”่ฒŒใ€็šฎไธ‹่„‚่‚ชใฎ่Ž็ธฎใ€ไฝŽ่บซ้•ทใ€่‘—ๆ˜Žใชๆ „้คŠ้šœๅฎณใ€่ฆ–ๅŠ›้šœๅฎณใ€้›ฃ่ดใชใฉใ‚‚ไผดใ†็จ€ใช็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚CSใฎๆœฌ้‚ฆใงใฎ็™บ็—‡้ ปๅบฆใฏ2.7/100ไธ‡ไบบใงใ‚ใ‚‹ใ€‚ - 1200677 - + + 192 + ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค๏ผˆCockayne syndrome๏ผšCS๏ผ‰ใฏ็ดซๅค–็ทšๆ€งDNAๆๅ‚ทใฎไฟฎๅพฉใ‚ทใ‚นใƒ†ใƒ ใ€็‰นใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰้™คๅŽปไฟฎๅพฉใซใŠใ‘ใ‚‹่ปขๅ†™ๅ…ฑ็›Šไฟฎๅพฉ๏ผˆ่ปขๅ†™้ ˜ๅŸŸใฎDNAๆๅ‚ทใฎๅ„ชๅ…ˆ็š„ใชไฟฎๅพฉ๏ผ‰ใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆ—ฉ่€็—‡ใงใ‚ใ‚‹ใ€‚1936ๅนดใซใ‚คใ‚ฎใƒชใ‚นใฎๅฐๅ…็ง‘ๅŒป Cockayneใซใ‚ˆใ‚Šใ€Œ่ฆ–็ฅž็ตŒใฎ่Ž็ธฎใจ้›ฃ่ดใ‚’ไผดใ„็™บ่‚ฒใŒ่‘—ๆ˜ŽใซไฝŽไธ‹ใ—ใŸ็—‡ไพ‹ใ€ใจใ—ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ๆ—ฅๅ…‰้Žๆ•็—‡ใ€็‰น็•ฐใช่€ไบบๆง˜้ก”่ฒŒใ€็šฎไธ‹่„‚่‚ชใฎ่Ž็ธฎใ€ไฝŽ่บซ้•ทใ€่‘—ๆ˜Žใชๆ „้คŠ้šœๅฎณใ€่ฆ–ๅŠ›้šœๅฎณใ€้›ฃ่ดใชใฉใ‚‚ไผดใ†็จ€ใช็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚CSใฎๆœฌ้‚ฆใงใฎ็™บ็—‡้ ปๅบฆใฏ2.7/100ไธ‡ไบบใงใ‚ใ‚‹ใ€‚ + NANDO:1200677 + Cockayne syndrome + ใ“ใ‘ใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค + - + ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค - - 193 - 1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚ฃใƒชใŒๅˆๅŒใง็™บ่กจใ—ใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚15็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ็•ฐๅธธใซใ‚ˆใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใ€ๆบ€่…นไธญๆžขใ‚’ใฏใ˜ใ‚ไฝ“ๆธฉใ€ๅ‘ผๅธไธญๆžขใชใฉใฎ็•ฐๅธธใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚้ ปๅบฆใฏใ€๏ผ‘ไธ‡ไบบใ‹ใ‚‰๏ผ‘ไธ‡๏ผ•ๅƒไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ไบบ็จฎๅทฎใฏใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200678 - + + 193 + 1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚ฃใƒชใŒๅˆๅŒใง็™บ่กจใ—ใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚15็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ็•ฐๅธธใซใ‚ˆใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใ€ๆบ€่…นไธญๆžขใ‚’ใฏใ˜ใ‚ไฝ“ๆธฉใ€ๅ‘ผๅธไธญๆžขใชใฉใฎ็•ฐๅธธใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚้ ปๅบฆใฏใ€๏ผ‘ไธ‡ไบบใ‹ใ‚‰๏ผ‘ไธ‡๏ผ•ๅƒไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ไบบ็จฎๅทฎใฏใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200678 + Prader-Willi syndrome + ใทใ‚‰ใ ใƒผใƒปใ†ใƒใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค + + - + ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค - - 194 - ใ‚ฝใƒˆใ‚น๏ผˆSotos๏ผ‰็—‡ๅ€™็พคใฏใ€NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅฝŽใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ - 1200679 - + + 194 + ใ‚ฝใƒˆใ‚น๏ผˆSotos๏ผ‰็—‡ๅ€™็พคใฏใ€NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅฝŽใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ + NANDO:1200679 + Sotos syndrome + ใใจใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค - + - - + ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค - - 195 - ใƒŒใƒผใƒŠใƒณ๏ผˆNoonan๏ผ‰็—‡ๅ€™็พคใฏใ€็ดฐ่ƒžๅ†…ใฎRas/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€ไฝŽ่บซ้•ทใ€่ƒธ้ƒญ็•ฐๅธธใ€ๅœ็•™็ฒพๅทฃใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200680 - + + 195 + ใƒŒใƒผใƒŠใƒณ๏ผˆNoonan๏ผ‰็—‡ๅ€™็พคใฏใ€็ดฐ่ƒžๅ†…ใฎRas/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€ไฝŽ่บซ้•ทใ€่ƒธ้ƒญ็•ฐๅธธใ€ๅœ็•™็ฒพๅทฃใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200680 + Noonan syndrome + ใฌใƒผใชใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค - + - - + ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค - - 196 - ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200681 - + + 196 + ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200681 + Young-Simpson syndrome + ใ‚„ใ‚“ใใƒปใ—ใ‚“ใทใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค + - + - ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค - - 197 - ๏ผ‘็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆœซ็ซฏ1p36้ ˜ๅŸŸใฎๆฌ ๅคฑใซใ‚ˆใฃใฆใŠใ“ใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆˆ้•ท้šœๅฎณใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”้…ๆปžใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใชใฉใฎ็—‡็Šถใ‚’ๆฅใŸใ™ใ€‚ - 1200682 - + + 197 + ๏ผ‘็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆœซ็ซฏ1p36้ ˜ๅŸŸใฎๆฌ ๅคฑใซใ‚ˆใฃใฆใŠใ“ใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆˆ้•ท้šœๅฎณใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”้…ๆปžใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใชใฉใฎ็—‡็Šถใ‚’ๆฅใŸใ™ใ€‚ + NANDO:1200682 + 1p36 deletion syndrome + 1ใดใƒผ36ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค + - + ๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค - - 198 - ๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€ๅคš็™บๅฝขๆ…‹็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ - 1200683 - + + 198 + ๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€ๅคš็™บๅฝขๆ…‹็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ + NANDO:1200683 + 4p deletion syndrome - ๏ผ”pๆฌ ๅคฑ็—‡ๅ€™็พค + 4pๆฌ ๅคฑ็—‡ๅ€™็พค + 4ใดใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + 4p-syndrome - - ๏ผ”pๆฌ ๅคฑ็—‡ๅ€™็พค - - - 199 - 5pๆฌ ๅคฑ็—‡ๅ€™็พคใฏ๏ผ•็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ - 1200684 - + 4pๆฌ ๅคฑ็—‡ๅ€™็พค + + + 199 + 5pๆฌ ๅคฑ็—‡ๅ€™็พคใฏ๏ผ•็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ + NANDO:1200684 + 5p deletion syndrome - ๏ผ•pๆฌ ๅคฑ็—‡ๅ€™็พค + 5pๆฌ ๅคฑ็—‡ๅ€™็พค + 5ใดใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + 5p-syndrome + 5p-็—‡ๅ€™็พค - ๏ผ•pๆฌ ๅคฑ็—‡ๅ€™็พค + 5pๆฌ ๅคฑ็—‡ๅ€™็พค - - 200 - ็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€14็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ32.2้ ˜ๅŸŸ๏ผˆ14q32.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹ใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ้บไผๅญใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๅฐ่ƒธ้ƒญใซใ‚ˆใ‚‹ๅ‘ผๅธ้šœๅฎณใ€่…นๅฃ็•ฐๅธธใ€็‰นๅพด็š„ใช้ก”่ฒŒใ‚’็คบใ™ใ€‚ๆฒป็™‚ๆณ•ใฏๆœช็ขบ็ซ‹ใงใ€ๅฏพ็—‡็™‚ๆณ•ใŒไธญๅฟƒใจใชใ‚‹ใ€‚ - 1200685 - + + 200 + ็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€14็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ32.2้ ˜ๅŸŸ๏ผˆ14q32.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹ใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ้บไผๅญใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๅฐ่ƒธ้ƒญใซใ‚ˆใ‚‹ๅ‘ผๅธ้šœๅฎณใ€่…นๅฃ็•ฐๅธธใ€็‰นๅพด็š„ใช้ก”่ฒŒใ‚’็คบใ™ใ€‚ๆฒป็™‚ๆณ•ใฏๆœช็ขบ็ซ‹ใงใ€ๅฏพ็—‡็™‚ๆณ•ใŒไธญๅฟƒใจใชใ‚‹ใ€‚ + NANDO:1200685 + Paternal uniparental disomy of chromosome 14 + ใ ใ„14ใฐใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใกใกใŠใ‚„ใ›ใ„ใ ใ„ใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค - + Kagami-Ogata syndrome No. 14 chromosome father disomy syndrome ็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค - - 201 - ้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ€ๆ—ฅๆœฌใงใฏ500๏ฝž1,000ไบบ็จ‹ๅบฆใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200686 - + + 201 + ้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ€ๆ—ฅๆœฌใงใฏ500๏ฝž1,000ไบบ็จ‹ๅบฆใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200686 + Angelman syndrome + ใ‚ใ‚“ใ˜ใ‡ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค + - + ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค - - 202 - 17็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎไธญ้–“้ƒจๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€่‡ชๅ‚ท่กŒ็‚บใ€่กŒๅ‹•็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใƒฌใƒ ็ก็œ ใฎๆธ›ๅฐ‘ใ‚„ๆฌ ๅฆ‚ใซใ‚ˆใ‚‹็ก็œ ้šœๅฎณใ‚’่ชใ‚ใ‚‹ๆ‚ฃ่€…ใ‚‚ใ„ใ‚‹ใ€‚ - 1200687 - + + 202 + 17็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎไธญ้–“้ƒจๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€่‡ชๅ‚ท่กŒ็‚บใ€่กŒๅ‹•็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใƒฌใƒ ็ก็œ ใฎๆธ›ๅฐ‘ใ‚„ๆฌ ๅฆ‚ใซใ‚ˆใ‚‹็ก็œ ้šœๅฎณใ‚’่ชใ‚ใ‚‹ๆ‚ฃ่€…ใ‚‚ใ„ใ‚‹ใ€‚ + NANDO:1200687 + Smith-Magenis syndrome + ใ™ใฟใ™ใƒปใพใŽใซใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค + - + ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค - - 203 - 22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พคใฏใ€ๆ‚ฃ่€…ใฎ80๏ผ…ใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€่ƒธ่…บ็™บ้”้…ๅปถใƒป็„กๅฝขๆˆใซใ‚ˆใ‚‹ๅ…็–ซไฝŽไธ‹ใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใƒป่ปŸๅฃ่“‹้–‰้Ž–ไธๅ…จใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚4,000๏ฝž5,000ไบบใซ๏ผ‘ไบบใฎ้ ปๅบฆใง็™บ็”Ÿใ™ใ‚‹ๅธŒใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“22q11.2ใฎๅพฎ็ดฐๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œ็ด„30ๅ€‹ไปฅไธŠใฎ้บไผๅญใŒๆฌ ๅคฑใ—ใฆใ„ใ‚‹ใŒใ€ๆœชใ ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒ็–พๆ‚ฃใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€่‚บๅ‹•่„ˆๅผๆฌ ๆใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธป่ฆไฝ“่‚บๅดๅ‰ฏๅ‹•่„ˆใฎๅˆไฝตใชใฉใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ใŒใ—ใฐใ—ใฐๅ›ฐ้›ฃใงใ€ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚‹ๆญปไบกไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅˆไฝตใ™ใ‚‹ๅ…็–ซไฝŽไธ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่‚บ้ซ˜่ก€ๅœงใชใฉใซใ‚ˆใ‚Šๆ‰‹่ก“ๆญปไบกใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€ๆœชใ ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใฏๆœช็ขบ็ซ‹ใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏใŸใจใˆ็”Ÿๅญ˜ใ—ใฆใ‚‚ใ€็™บ้”้…ๅปถใ‚„็ฒพ็ฅž็–พๆ‚ฃใ€็ตฑๅˆๅคฑ่ชฟ็—‡ใชใฉใซใ‚ˆใ‚‹็”Ÿๆดป้ขใฎ้•ทๆœŸใซใ‚ใŸใ‚‹ๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ - 1200688 - + + 203 + 22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พคใฏใ€ๆ‚ฃ่€…ใฎ80๏ผ…ใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€่ƒธ่…บ็™บ้”้…ๅปถใƒป็„กๅฝขๆˆใซใ‚ˆใ‚‹ๅ…็–ซไฝŽไธ‹ใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใƒป่ปŸๅฃ่“‹้–‰้Ž–ไธๅ…จใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚4,000๏ฝž5,000ไบบใซ๏ผ‘ไบบใฎ้ ปๅบฆใง็™บ็”Ÿใ™ใ‚‹ๅธŒใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“22q11.2ใฎๅพฎ็ดฐๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œ็ด„30ๅ€‹ไปฅไธŠใฎ้บไผๅญใŒๆฌ ๅคฑใ—ใฆใ„ใ‚‹ใŒใ€ๆœชใ ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒ็–พๆ‚ฃใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€่‚บๅ‹•่„ˆๅผๆฌ ๆใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธป่ฆไฝ“่‚บๅดๅ‰ฏๅ‹•่„ˆใฎๅˆไฝตใชใฉใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ใŒใ—ใฐใ—ใฐๅ›ฐ้›ฃใงใ€ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚‹ๆญปไบกไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅˆไฝตใ™ใ‚‹ๅ…็–ซไฝŽไธ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่‚บ้ซ˜่ก€ๅœงใชใฉใซใ‚ˆใ‚Šๆ‰‹่ก“ๆญปไบกใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€ๆœชใ ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใฏๆœช็ขบ็ซ‹ใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏใŸใจใˆ็”Ÿๅญ˜ใ—ใฆใ‚‚ใ€็™บ้”้…ๅปถใ‚„็ฒพ็ฅž็–พๆ‚ฃใ€็ตฑๅˆๅคฑ่ชฟ็—‡ใชใฉใซใ‚ˆใ‚‹็”Ÿๆดป้ขใฎ้•ทๆœŸใซใ‚ใŸใ‚‹ๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ + NANDO:1200688 + 22q11.2 deletion syndrome 22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค + 22ใใ‚…ใƒผ11.2ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + + 22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค - - 204 - ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พคใฏ็‰น็•ฐ้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅฐ้กŽ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚22็•ช้Žๅ‰ฐๆดพ็”ŸๆŸ“่‰ฒไฝ“็—‡ๅ€™็พคใ€11/22ๆททๅˆใƒˆใƒชใ‚ฝใƒŸใƒผใชใฉใจใ‚‚ๅ‘ผใฐใ‚ŒใฆใŠใ‚Šใ€ๆŸ“่‰ฒไฝ“่ปขๅบงt(11;22)ใซ็”ฑๆฅใ™ใ‚‹22็•ชๆดพ็”ŸๆŸ“่‰ฒไฝ“ใ‚’47ๆœฌ็›ฎใฎๆŸ“่‰ฒไฝ“ใจใ—ใฆ้Žๅ‰ฐใซๆŒใคใ“ใจใŒๆœฌ็–พๆ‚ฃใฎๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฎๅˆ†ๅญ้บไผๅญฆ็ ”็ฉถใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆœฌ็–พๆ‚ฃใฎ็™บ็”Ÿ้ ปๅบฆใŒไบˆๆƒณๅค–ใซ้ซ˜ใ„ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ - 1200689 - + + 204 + ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พคใฏ็‰น็•ฐ้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅฐ้กŽ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚22็•ช้Žๅ‰ฐๆดพ็”ŸๆŸ“่‰ฒไฝ“็—‡ๅ€™็พคใ€11/22ๆททๅˆใƒˆใƒชใ‚ฝใƒŸใƒผใชใฉใจใ‚‚ๅ‘ผใฐใ‚ŒใฆใŠใ‚Šใ€ๆŸ“่‰ฒไฝ“่ปขๅบงt(11;22)ใซ็”ฑๆฅใ™ใ‚‹22็•ชๆดพ็”ŸๆŸ“่‰ฒไฝ“ใ‚’47ๆœฌ็›ฎใฎๆŸ“่‰ฒไฝ“ใจใ—ใฆ้Žๅ‰ฐใซๆŒใคใ“ใจใŒๆœฌ็–พๆ‚ฃใฎๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฎๅˆ†ๅญ้บไผๅญฆ็ ”็ฉถใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆœฌ็–พๆ‚ฃใฎ็™บ็”Ÿ้ ปๅบฆใŒไบˆๆƒณๅค–ใซ้ซ˜ใ„ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ + NANDO:1200689 + Emanuel syndrome + ใˆใพใฌใˆใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค - + ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค - - 205 - XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚ - 1200690 - + + 205 + XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚ + NANDO:1200690 + Fragile X syndrome related diseases + ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ ่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ - + Fragile X-associated tremor/ataxia syndrome ่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ - - 205 - 1200691 - + + 205 + NANDO:1200691 + Fragile X tremor/ataxia syndrome + ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใšใ„ใฏใ‚“ใ—ใ‚“ใ›ใ‚“/ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค - + FXTAS ่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค - - 206 - XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚ - 1200692 - + + 206 + XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚ + NANDO:1200692 + Fragile X syndrome + ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่„†ๅผฑX็—‡ๅ€™็พค + - + ่„†ๅผฑX็—‡ๅ€™็พค - - 207 - ๅคงใใชๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๆœ‰ใ—ใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ๅ˜ไธ€ใฎๅ‹•่„ˆใซ่ก€ๆถฒใ‚’้ง†ๅ‡บใ™ใ‚‹ใ“ใจใงใ€ๅคงๅ‹•่„ˆใ€่‚บๅ‹•่„ˆๅŠใณๅ† ๅ‹•่„ˆใซ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ไผดใ†่‚บ่ก€ๆตๅข—ๅคšใจใ€็ทๅ‹•่„ˆๅนนๅผๅฝขๆˆไธๅ…จใซใ‚ˆใ‚‹ๅผ้€†ๆตใซใ‚ˆใ‚Šใ€ๅ‡บ็”ŸๅพŒใŸใ ใกใซๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ€€Collett and Edwardsใฎๅˆ†้กž - 1200693 - - Persistent truncus arteriosus + + 207 + ๅคงใใชๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๆœ‰ใ—ใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ๅ˜ไธ€ใฎๅ‹•่„ˆใซ่ก€ๆถฒใ‚’้ง†ๅ‡บใ™ใ‚‹ใ“ใจใงใ€ๅคงๅ‹•่„ˆใ€่‚บๅ‹•่„ˆๅŠใณๅ† ๅ‹•่„ˆใซ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ไผดใ†่‚บ่ก€ๆตๅข—ๅคšใจใ€็ทๅ‹•่„ˆๅนนๅผๅฝขๆˆไธๅ…จใซใ‚ˆใ‚‹ๅผ้€†ๆตใซใ‚ˆใ‚Šใ€ๅ‡บ็”ŸๅพŒใŸใ ใกใซๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ€€Collett and Edwardsใฎๅˆ†้กž + NANDO:1200693 + + Truncus arteriosus communis + ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ† ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡ - + - - Truncus arteriosus communis - - + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡ - - 207 - 1200694 - + + 207 + NANDO:1200694 + Truncus arteriosus communis type I - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰ + ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†1ใŒใŸ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡โ… ๅž‹ - - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰ - - - 207 - 1200695 - + + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡โ… ๅž‹ + + + 207 + NANDO:1200695 + Truncus arteriosus communis type II - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰ + ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†2ใŒใŸ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIๅž‹ - - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰ - - - 207 - 1200696 - + + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIๅž‹ + + + 207 + NANDO:1200696 + Truncus arteriosus communis type III - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰ + ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†3ใŒใŸ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIIๅž‹ - - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰ - - - 207 - 1200697 - - Truncus arteriosus communis type โ…ฃ - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰ + + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIIๅž‹ + + + 207 + NANDO:1200697 + + Truncus arteriosus communis type IV + ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†4ใŒใŸ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IVๅž‹ - - ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰ - - - 208 - ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚ - 1200698 - + + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰ + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IVๅž‹ + + + 208 + ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:1200698 + Corrected Transposition of Great Arteries + ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ† ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ - + Corrected transposition of the great arteries + ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ - - 209 - ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚ - 1200699 - - Complete Transposition of Great Arteries + + 209 + ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:1200699 + + Complete transposition of the great arteries + ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ† ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ + - + Complete TGA - Complete transpositionย of theย great arteries + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ - - 209 - 1200700 - - Complete transpositionย of theย great arteries (Group1) - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰ + + 209 + NANDO:1200700 + + Complete transposition of the great arteries (Group1) + ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†1ใŒใŸ + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡โ… ๅž‹ - - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰ - - - 209 - 1200701 - - Complete transpositionย of theย great arteries (Group2) - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰ + + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰ + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡โ… ๅž‹ + + + 209 + NANDO:1200701 + + Complete transposition of the great arteries (Group2) + ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†2ใŒใŸ + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIๅž‹ - - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰ - - - 209 - 1200702 - - Complete transpositionย of theย great arteries (Group3) - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰ + + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰ + + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIๅž‹ + + + 209 + NANDO:1200702 + + Complete transposition of the great arteries (Group3) + ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†3ใŒใŸ + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIIๅž‹ - - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰ - - - 209 - 1200703 - - Complete transpositionย of theย great arteries (Group4) - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰ + + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰ + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIIๅž‹ + + + 209 + NANDO:1200703 + + Complete transposition of the great arteries (Group4) + ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†4ใŒใŸ + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IVๅž‹ - - ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰ - - - 210 - ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200704 - - Single ventricle heart defect + + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰ + + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IVๅž‹ + + + 210 + ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200704 + + Single ventricle + ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ† ๅ˜ๅฟƒๅฎค็—‡ + - + Univentricular heart ๅ˜ๅฟƒๅฎค็—‡ - - 211 - ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200705 - + + 211 + ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200705 + Hypoplastic left heart syndrome + ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค + - - + + ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค - - 212 - ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200706 - + + 212 + ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200706 + Tricuspid atresia + ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ† ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ + - - + + ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ - - 213 - ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200707 - + + 213 + ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200707 + Pulmonary Atresia with Intact Ventricular Septum + ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ‚ใชใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ† ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ + - - + + Pulmonary atresia without ventricular septum defect ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ - - 214 - ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚ - 1200708 - - Pulmonary atresia with ventricular septum defect + + 214 + ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚ + NANDO:1200708 + + Pulmonary atresia with ventricular septal defect + ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ† ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ + - - Pulmonary atresia with ventricular septal defect + + ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ - - 215 - ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚ - 1200709 - + + 215 + ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚ + NANDO:1200709 + Tetralogy of Fallot + ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ + - + Fallot's Tetralogy ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ - - 216 - ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚ - 1200710 - + + 216 + ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚ + NANDO:1200710 + Double outlet right ventricle + ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ† ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ - + - - + ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ - - 217 - ไธ‰ๅฐ–ๅผใฎ๏ผ‘ๆžšๅˆใฏ๏ผ’ๆžšใฎๅผๅฐ–ไป˜็€ไฝ็ฝฎใŒๅณๅฎคๅ†…ใซใšใ‚Œ่ฝใกใ‚‹ใŸใ‚ใซไธ‰ๅฐ–ๅผใฎ้–‰้Ž–ใซๆ”ฏ้šœใŒ็”Ÿใ˜ใฆ้ซ˜ๅบฆใฎ้€†ๆตใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸๅณๆˆฟๅŒ–ใ—ใŸๅณๅฎคใฎๅฟƒ็ญ‹ใฏ่ฒ่–„ๅŒ–ใ™ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผ้€†ๆตใจๅณๆˆฟๅŒ–ๅณๅฎคใฎใŸใ‚ใซๅณๆˆฟใฏ่‘—ๆ˜Žใซๆ‹กๅคงใ—ใ€ๆฉŸ่ƒฝ็š„ๅณๅฎคใฏ็‹ญๅฐๅŒ–ใ—ใ€ๆฉŸ่ƒฝ็š„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆฟๅฎคๆŽฅๅˆ้ƒจใซใŠใ‘ใ‚‹็ทš็ถญ่ผชใฎๅฝขๆˆใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ๆˆฟๅฎคๅ‰ฏไผๅฐŽ่ทฏใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚‹WPW็—‡ๅ€™็พคใฎๅˆไฝตไพ‹ใŒ็ด„20๏ฝž30๏ผ…ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 1200711 - - Ebstein disease + + 217 + ไธ‰ๅฐ–ๅผใฎ๏ผ‘ๆžšๅˆใฏ๏ผ’ๆžšใฎๅผๅฐ–ไป˜็€ไฝ็ฝฎใŒๅณๅฎคๅ†…ใซใšใ‚Œ่ฝใกใ‚‹ใŸใ‚ใซไธ‰ๅฐ–ๅผใฎ้–‰้Ž–ใซๆ”ฏ้šœใŒ็”Ÿใ˜ใฆ้ซ˜ๅบฆใฎ้€†ๆตใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸๅณๆˆฟๅŒ–ใ—ใŸๅณๅฎคใฎๅฟƒ็ญ‹ใฏ่ฒ่–„ๅŒ–ใ™ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผ้€†ๆตใจๅณๆˆฟๅŒ–ๅณๅฎคใฎใŸใ‚ใซๅณๆˆฟใฏ่‘—ๆ˜Žใซๆ‹กๅคงใ—ใ€ๆฉŸ่ƒฝ็š„ๅณๅฎคใฏ็‹ญๅฐๅŒ–ใ—ใ€ๆฉŸ่ƒฝ็š„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆฟๅฎคๆŽฅๅˆ้ƒจใซใŠใ‘ใ‚‹็ทš็ถญ่ผชใฎๅฝขๆˆใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ๆˆฟๅฎคๅ‰ฏไผๅฐŽ่ทฏใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚‹WPW็—‡ๅ€™็พคใฎๅˆไฝตไพ‹ใŒ็ด„20๏ฝž30๏ผ…ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:1200711 + + Ebstein's anomaly + ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ† ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—… + - + Ebstein malformation ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—… - - 218 - ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พคใฏ้€ฒ่กŒๆ€ง้บไผๆ€ง่…Ž็‚Žใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใŒX้€ฃ้Ž–ๅž‹้บไผๅฝขๅผใ‚’็คบใ—ใ€ใใฎ้‡็—‡ไพ‹ใงใฏ็”ทๆ€งใง10ไปฃๅพŒๅŠใ‹ใ‚‰20ไปฃๅ‰ๅŠใซๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚่‹ฅๅนด้€ๆžๅฐŽๅ…ฅใฎไธปๅ› ใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใซ้›ปๅญ้ก•ๅพฎ้กใง็‰นๅพด็š„็ถฒ็›ฎ็Šถๅค‰ๅŒ–ใ‚’่ชใ‚่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚็šฎ่†šๅŸบๅบ•่†œใ‚„็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎIVๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ่›‹็™ฝใฎ็•ฐๅธธใฎๆคœๅ‡บใŒ็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚้บไผๅญ่งฃๆžใ‚‚ๅฏ่ƒฝใงใ€็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚ - 1200712 - + + 218 + ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พคใฏ้€ฒ่กŒๆ€ง้บไผๆ€ง่…Ž็‚Žใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใŒX้€ฃ้Ž–ๅž‹้บไผๅฝขๅผใ‚’็คบใ—ใ€ใใฎ้‡็—‡ไพ‹ใงใฏ็”ทๆ€งใง10ไปฃๅพŒๅŠใ‹ใ‚‰20ไปฃๅ‰ๅŠใซๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚่‹ฅๅนด้€ๆžๅฐŽๅ…ฅใฎไธปๅ› ใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใซ้›ปๅญ้ก•ๅพฎ้กใง็‰นๅพด็š„็ถฒ็›ฎ็Šถๅค‰ๅŒ–ใ‚’่ชใ‚่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚็šฎ่†šๅŸบๅบ•่†œใ‚„็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎIVๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ่›‹็™ฝใฎ็•ฐๅธธใฎๆคœๅ‡บใŒ็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚้บไผๅญ่งฃๆžใ‚‚ๅฏ่ƒฝใงใ€็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚ + NANDO:1200712 + Alport's Syndrome + ใ‚ใ‚‹ใฝใƒผใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค - + Alport syndrome ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค - - 219 - ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ๏ผˆGalloway-Mowat๏ผ‰็—‡ๅ€™็พคใฏใ€่…Ž็ณธ็ƒไฝ“็กฌๅŒ–็—‡(ใƒใƒ•ใƒญใƒผใ‚ผ๏ผ‰ใ€ๅฐ้ ญ็—‡(ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•้…ๆปž)ใ‚’๏ผ’ไธปๅพดใจใ—ใ€้ก”้ขใƒปๅ››่‚ขๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ - 1200713 - + + 219 + ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ๏ผˆGalloway-Mowat๏ผ‰็—‡ๅ€™็พคใฏใ€่…Ž็ณธ็ƒไฝ“็กฌๅŒ–็—‡(ใƒใƒ•ใƒญใƒผใ‚ผ๏ผ‰ใ€ๅฐ้ ญ็—‡(ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•้…ๆปž)ใ‚’๏ผ’ไธปๅพดใจใ—ใ€้ก”้ขใƒปๅ››่‚ขๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ + NANDO:1200713 + Galloway-Mowat syndrome + ใŽใ‚ƒใ‚ใ†ใ‡ใ„ใƒปใ‚‚ใ‚ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค + - + + Galloway-Mowat็—‡ๅ€™็พค ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค - - 220 - ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒ็”Ÿใ˜ใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ—ใฆ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚้‡็ฏคใช็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็”Ÿๅ‘ฝไบˆๅพŒใ€่…ŽไบˆๅพŒใจใ‚‚ใซไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200714 - + + 220 + ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒ็”Ÿใ˜ใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ—ใฆ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚้‡็ฏคใช็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็”Ÿๅ‘ฝไบˆๅพŒใ€่…ŽไบˆๅพŒใจใ‚‚ใซไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200714 + Rapidly progressive glomerulonephritis + ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - crescenticย glomerulonephritis + + crescentic glomerulonephritis ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 220 - 1200715 - - MPO-ANCAย positiveย rapidly progressive glomerulonephritis + + 220 + NANDO:1200715 + + MPO-ANCA positive rapidly progressive glomerulonephritis + ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใˆใ‚€ใดใƒผใŠใƒผ-ใˆใƒผใˆใฌใ—ใƒผใˆใƒผใ‚ˆใ†ใ›ใ„๏ผ‰ ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰ - - MPO-ANCAย associated crescenticย glomerulonephritis + + MPO-ANCA associated crescentic glomerulonephritis ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰ - - 220 - 1200716 - - PR3-ANCAย positiveย rapidly progressive glomerulonephritis + + 220 + NANDO:1200716 + + PR3-ANCA positive rapidly progressive glomerulonephritis + ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใดใƒผใ‚ใƒผใ‚‹3-ใˆใƒผใˆใฌใ—ใƒผใˆใƒผใ‚ˆใ†ใ›ใ„๏ผ‰ ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰ - + ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰ - - 220 - 1200717 - + + 220 + NANDO:1200717 + Anti-GBM rapidly progressive glomerulonephritis + ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ“ใ†ใ˜ใƒผใณใƒผใˆใ‚€ใ“ใ†ใŸใ„ใ‚ˆใ†ใ›ใ„๏ผ‰ ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰ + - + + + ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰ - - 221 - ่ก€ๆธ…ไธญๅˆใฏ่…Ž็ณธ็ƒไฝ“ใซๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œๆŠ—ไฝ“ใ‚’่ชใ‚ใ€ๅ…ธๅž‹ไพ‹ใงใฏ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒใŠใ“ใ‚Šใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ™ใ‚‹ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‡บ่ก€ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Šใ€่…ŽไบˆๅพŒใ€็”Ÿๅ‘ฝไบˆๅพŒใจใ‚‚ไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎ็ฎก็†ๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200718 - - Anti-GBM Nephritis + + 221 + ่ก€ๆธ…ไธญๅˆใฏ่…Ž็ณธ็ƒไฝ“ใซๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œๆŠ—ไฝ“ใ‚’่ชใ‚ใ€ๅ…ธๅž‹ไพ‹ใงใฏ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒใŠใ“ใ‚Šใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ™ใ‚‹ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‡บ่ก€ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Šใ€่…ŽไบˆๅพŒใ€็”Ÿๅ‘ฝไบˆๅพŒใจใ‚‚ไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎ็ฎก็†ๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200718 + + Goodpasture syndrome + ใ“ใ†ใ—ใใ‚…ใ†ใŸใ„ใใฆใ„ใพใใ˜ใ‚“ใˆใ‚“ ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž + - + + Anti-GBM Nephritis Anti-glomerular basement membrane disease + ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž - - 222 - ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏๅคง้‡ใฎ็ณธ็ƒไฝ“ๆ€ง่›‹็™ฝๅฐฟใ‚’ๆฅใ—ใ€ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚„ๆตฎ่…ซใŒๅ‡บ็พใ™ใ‚‹่…Ž็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆˆไบบใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ่จบๆ–ญๅŸบๆบ–ใฏใ€ๅฐฟ่›‹็™ฝ3.5๏ฝ‡/ๆ—ฅไปฅไธŠ๏ผˆ้šๆ™‚ๅฐฟใซใŠใ„ใฆๅฐฟ่›‹็™ฝ๏ผๅฐฟใ‚ฏใƒฌใ‚ขใƒใƒ‹ใƒณๆฏ”ใŒ3.5g/gCrไปฅไธŠใฎๅ ดๅˆใ‚‚ใ“ใ‚Œใซๆบ–ใšใ‚‹๏ผ‰ใŒ็ถ™็ถšใ—ใ€่ก€ๆธ…ใ‚ขใƒซใƒ–ใƒŸใƒณๅ€คใŒ3.0g/dLไปฅไธ‹ใซไฝŽไธ‹ใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๅŽŸๅ› ็–พๆ‚ฃใŒใ‚ใ‚‹ใ‚‚ใฎใŒไบŒๆฌกๆ€งใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ใ‚‚ใฎใŒไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใชใŠใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPGN๏ผ‰ใซใคใ„ใฆใฏใ€ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎๆฆ‚่ฆใ‚‚ๅ‚็…งใ™ใ‚‹ใ“ใจใ€‚ - 1200719 - + + 222 + ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏๅคง้‡ใฎ็ณธ็ƒไฝ“ๆ€ง่›‹็™ฝๅฐฟใ‚’ๆฅใ—ใ€ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚„ๆตฎ่…ซใŒๅ‡บ็พใ™ใ‚‹่…Ž็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆˆไบบใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ่จบๆ–ญๅŸบๆบ–ใฏใ€ๅฐฟ่›‹็™ฝ3.5๏ฝ‡/ๆ—ฅไปฅไธŠ๏ผˆ้šๆ™‚ๅฐฟใซใŠใ„ใฆๅฐฟ่›‹็™ฝ๏ผๅฐฟใ‚ฏใƒฌใ‚ขใƒใƒ‹ใƒณๆฏ”ใŒ3.5g/gCrไปฅไธŠใฎๅ ดๅˆใ‚‚ใ“ใ‚Œใซๆบ–ใšใ‚‹๏ผ‰ใŒ็ถ™็ถšใ—ใ€่ก€ๆธ…ใ‚ขใƒซใƒ–ใƒŸใƒณๅ€คใŒ3.0g/dLไปฅไธ‹ใซไฝŽไธ‹ใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๅŽŸๅ› ็–พๆ‚ฃใŒใ‚ใ‚‹ใ‚‚ใฎใŒไบŒๆฌกๆ€งใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ใ‚‚ใฎใŒไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใชใŠใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPGN๏ผ‰ใซใคใ„ใฆใฏใ€ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎๆฆ‚่ฆใ‚‚ๅ‚็…งใ™ใ‚‹ใ“ใจใ€‚ + NANDO:1200719 + Primary nephrotic syndrome + ใ„ใกใ˜ใ›ใ„ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - + + ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - - 222 - 1200720 - + + 222 + NANDO:1200720 + Minimal change nephrotic syndrome + ใณใ—ใ‚‡ใ†ใธใ‚“ใ‹ใŒใŸใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค + - + MCNS ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - - 222 - 1200721 - + + 222 + NANDO:1200721 + Membranous nephropathy + ใพใใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ† ่†œๆ€ง่…Ž็—‡ + - + ่†œๆ€ง่…Ž็—‡ - - 222 - 1200722 - + + 222 + NANDO:1200722 + Focal segmental glomerulosclerosis + ใใ†ใ˜ใ‚‡ใ†ใถใ‚“ใ›ใคใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ + - + FSGS ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ - - 222 - 1200723 - + + 222 + NANDO:1200723 + Crescentic Glomerulonephritis + ใฏใ‚“ใ’ใคใŸใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - + ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 222 - 1200724 - + + 222 + NANDO:1200724 + Endocapillary proliferative glomerulonephritis + ใ‹ใ‚“ใชใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - + ็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - ่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏใ€ๅ…‰ๅญฆ้ก•ๅพฎ้กๆ‰€่ฆ‹ใง็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽš๏ผˆๅŸบๅบ•่†œไบŒ้‡ๅŒ–๏ผ‰ใจๅˆ†่‘‰็Šถใฎ็ดฐ่ƒžๅข—ๆฎ–็—…ๅค‰ใจใ„ใฃใŸ็‰นๅพด็š„ใช็ต„็น”็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ใใฎๅฝขๆ…‹ใ‚ˆใ‚ŠIๅž‹ใ€IIๅž‹๏ผˆ็พๅœจใฎใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…๏ผ‰ใ€IIIๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€็„ก็—‡ๅ€™ๆ€งใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž็‚Žใ€ๆ…ขๆ€ง่…Ž็‚Žใ‚ใ‚‹ใ„ใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใง็™บ็—‡ใ—ใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ไธ€ๆฌกๆ€งใจ็จฎใ€…ใฎๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใ‚„ๆ„ŸๆŸ“็—‡ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ€ๆฌกๆ€งใฏใ€๏ผ˜๏ฝž30ๆญณไปฃใฎ่‹ฅๅนดๅฑคใ‚’ไธปใจใ—ใ€ใใ‚Œไปฅ้™ใฏใ€ไบŒๆฌกๆ€งใŒไธปใงใ‚ใ‚‹ใ€‚ใพใŸใ€้บไผ็š„่ฆๅ› ใซใ‚ˆใ‚‹่ฃœไฝ“็ตŒ่ทฏใฎ่ชฟ็ฏ€็•ฐๅธธใซใ‚ˆใฃใฆ้กžไผผ็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ - 1200725 - + + 223 + ่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏใ€ๅ…‰ๅญฆ้ก•ๅพฎ้กๆ‰€่ฆ‹ใง็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽš๏ผˆๅŸบๅบ•่†œไบŒ้‡ๅŒ–๏ผ‰ใจๅˆ†่‘‰็Šถใฎ็ดฐ่ƒžๅข—ๆฎ–็—…ๅค‰ใจใ„ใฃใŸ็‰นๅพด็š„ใช็ต„็น”็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ใใฎๅฝขๆ…‹ใ‚ˆใ‚ŠIๅž‹ใ€IIๅž‹๏ผˆ็พๅœจใฎใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…๏ผ‰ใ€IIIๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€็„ก็—‡ๅ€™ๆ€งใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž็‚Žใ€ๆ…ขๆ€ง่…Ž็‚Žใ‚ใ‚‹ใ„ใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใง็™บ็—‡ใ—ใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ไธ€ๆฌกๆ€งใจ็จฎใ€…ใฎๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใ‚„ๆ„ŸๆŸ“็—‡ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ€ๆฌกๆ€งใฏใ€๏ผ˜๏ฝž30ๆญณไปฃใฎ่‹ฅๅนดๅฑคใ‚’ไธปใจใ—ใ€ใใ‚Œไปฅ้™ใฏใ€ไบŒๆฌกๆ€งใŒไธปใงใ‚ใ‚‹ใ€‚ใพใŸใ€้บไผ็š„่ฆๅ› ใซใ‚ˆใ‚‹่ฃœไฝ“็ตŒ่ทฏใฎ่ชฟ็ฏ€็•ฐๅธธใซใ‚ˆใฃใฆ้กžไผผ็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ + NANDO:1200725 + Primary membranoproliferative glomerulonephritis + ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - ๅ‚ๅฃๅˆ†้กž๏ผˆhttps://www.jstage.jst.go.jp/article/jpnjnephrol1959/26/6/26_6_671/_pdf/-char/ja๏ผ‰ + + + Primary MPGN ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - 1200726 - - MPGN typeโ…  + + 223 + NANDO:1200726 + + Primary membranoproliferative glomerulonephritis type I + ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“1ใŒใŸ ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹ + - - + + + MPGN type I + ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹ - - 223 - 1200727 - - mesangial proliferative GN,slight + + 223 + NANDO:1200727 + Slight mesangial proliferative glomerulonephritis + ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ•ใ„ใผใ†ใ‘ใ„ใฉใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - - post MPGN - ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž 1aๅž‹ + + + Mild MesPGN + ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - 1200728 - - mesangial proliferative GN,moderate + + 223 + NANDO:1200728 + Moderate mesangial proliferative glomerulonephritis + ใกใ‚…ใ†ใจใ†ใฉใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ•ใ„ใผใ†ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - - pre MPGN - ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž 1bๅž‹ + + + Moderate MesPGN + ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - 1200729 - - MPGN typeโ… ,chronic,focal + + 223 + NANDO:1200729 + + Chronic focal membranoproliferative glomerulonephritis type I + ใพใ‚“ใ›ใ„ใƒปใใ†ใ˜ใ‚‡ใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - + + + Chronic, focal MPGN type I ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - 1200730 - - MPGN typeโ… ,acute,focal + + 223 + NANDO:1200730 + + Acute focal membranoproliferative glomerulonephritis type I + ใใ‚…ใ†ใ›ใ„ใƒปใใ†ใ˜ใ‚‡ใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - + + Acute, focal MPGN type I ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - 1200731 - - MPGN typeโ… ,chronic diffuse,slight - ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4aๅž‹ + + 223 + NANDO:1200731 + Chronic diffuse moderate membranoproliferative glomerulonephritis type I + ใ‘ใ„ใฉใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ่ปฝๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4aๅž‹ - - - 223 - 1200732 - - MPGN typeโ… ,chronic diffuse,non-lobular - ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4bๅž‹ + + + Chronic, diffuse, moderate MPGN type I + ่ปฝๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1200732 + Chronic diffuse non-lobular glomerulonephritis type I + ใฒใถใ‚“ใ‚ˆใ†ใŒใŸใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ้žๅˆ†่‘‰ๅž‹ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4bๅž‹ - - - 223 - 1200733 - - MPGN typeโ… ,chronic diffuse,moderate - ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4cๅž‹ + + + Chronic, diffuse, non-lobular MPGN type I + ้žๅˆ†่‘‰ๅž‹ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1200733 + Chronic diffuse moderate membranoproliferative glomerulonephritis type I + ใกใ‚…ใ†ใจใ†ใฉใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ไธญ็ญ‰ๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4cๅž‹ - - - 223 - 1200734 - - MPGN typeโ… ,acute diffuse,endocapillary - ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5aๅž‹ + + + Chronic, diffuse, moderate MPGN type I + ไธญ็ญ‰ๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1200734 + Acute diffuse endocapillary membranoproliferative glomerulonephritis type I + ใ‹ใ‚“ใชใ„ใžใ†ใ—ใ‚‡ใใŒใŸใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ็ฎกๅ†…ๅข—ๆฎ–ๅž‹ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5aๅž‹ - - - 223 - 1200735 - - MPGN typeโ… ,acute diffuse,moderate - ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5bๅž‹ + + + Acute, diffuse, endocapillary MPGN type I + ็ฎกๅ†…ๅข—ๆฎ–ๅž‹ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1200735 + Acute diffuse moderate membranoproliferative glomerulonephritis type I + ใกใ‚…ใ†ใจใ†ใฉใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ไธญ็ญ‰ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5bๅž‹ - - - 223 - 1200736 - - MPGN typeโ… ,acute diffuse,marked - ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5cๅž‹ + + + Acute, diffuse, moderate MPGN type I + ไธญ็ญ‰ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1200736 + Acute diffuse marked membranoproliferative glomerulonephritis type I + ใ“ใ†ใฉใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ้ซ˜ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - - ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5cๅž‹ - - - 223 - 1200737 - - MPGN typeโ… ,lobular + + + Acute diffuse, marked MPGN type I + ้ซ˜ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1200737 + + Lobular membranoproliferative glomerulonephritis type I + ใถใ‚“ใ‚ˆใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - + + Lobular MPGN type I + ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - 1200738 - - MPGN typeโ… ,end stage + + 223 + NANDO:1200738 + + End-stage membranoproliferative glomerulonephritis type I + ใ—ใ‚…ใ†ใพใคใใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - + + End stage MPGN type 1 ็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 223 - 1200739 - - MPGN typeโ…ก - ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…กๅž‹ + + 223 + NANDO:1200739 + + Primary membranoproliferative glomerulonephritis type II + ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“2ใŒใŸ + ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIๅž‹ - - dense deposit disease + + Dense deposit disease + MPGN type II ใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—… - ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…กๅž‹ - - - 223 - 1200740 - - MPGN typeโ…ข - ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…ขๅž‹ + ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIๅž‹ + + + 223 + NANDO:1200740 + + Primary membranoproliferative glomerulonephritis type III + ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“3ใ‹ใŸ + ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIIๅž‹ - - ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…ขๅž‹ - - - 224 - ่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฎไธ€็—‡็Šถใจใ—ใฆใฟใ‚‰ใ‚Œใ‚‹่…Ž็‚Žใงใ€็ดซๆ–‘็—…ใซไผดใ„ใ€็ณธ็ƒไฝ“ใซIgAใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฏใ€ๅ…็–ซๅญฆ็š„ๅๅฟœใซ่ตทๅ› ใ™ใ‚‹ๅ…จ่บซๆ€งใฎๅฐ่ก€็ฎก็‚Žใงใ€็ดซๆ–‘ใ‚’ใฏใ˜ใ‚ใจใ—ใŸ็šฎ่†š็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€้–ข็ฏ€็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใŠใ‚ˆใๅŠๆ•ฐใฎไพ‹ใŒ่…Ž็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ - 1200741 - - Purpura nephritis + + MPGN type III + ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIIๅž‹ + + + 224 + ่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฎไธ€็—‡็Šถใจใ—ใฆใฟใ‚‰ใ‚Œใ‚‹่…Ž็‚Žใงใ€็ดซๆ–‘็—…ใซไผดใ„ใ€็ณธ็ƒไฝ“ใซIgAใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฏใ€ๅ…็–ซๅญฆ็š„ๅๅฟœใซ่ตทๅ› ใ™ใ‚‹ๅ…จ่บซๆ€งใฎๅฐ่ก€็ฎก็‚Žใงใ€็ดซๆ–‘ใ‚’ใฏใ˜ใ‚ใจใ—ใŸ็šฎ่†š็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€้–ข็ฏ€็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใŠใ‚ˆใๅŠๆ•ฐใฎไพ‹ใŒ่…Ž็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:1200741 + + Henoch-Schonlein purpura nephritis + ใ—ใฏใ‚“ใณใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใˆใ‚“ ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž + - + + ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž - - 225 - ่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ - 1200742 - + + 225 + ่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ + NANDO:1200742 + Congenital nephrogenic diabetes insipidus + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ˜ใ‚“ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡ - + Nephrogenic diabetes insipidus + ้บไผๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡ ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡ - - 226 - ้–“่ณชๆ€ง่†€่ƒฑ็‚Žใจใฏใ€ใ€Œ่†€่ƒฑใฎ้ž็‰น็•ฐ็š„ใชๆ…ขๆ€ง็‚Ž็—‡ใ‚’ไผดใ„ใ€้ ปๅฐฟใƒปๅฐฟๆ„ไบข้€ฒใƒปๅฐฟๆ„ๅˆ‡่ฟซๆ„Ÿใƒป่†€่ƒฑ็—›ใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€๏ผˆ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž่จบ็™‚ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใซใ‚ˆใ‚‹๏ผ‰ใงใ‚ใ‚‹ใ€‚ใใฎ็—…ๅž‹ใฏใƒใƒณใƒŠๅž‹๏ผˆใƒใƒณใƒŠ็—…ๅค‰ใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎ๏ผ‰ใจ้žใƒใƒณใƒŠๅž‹๏ผˆๆœ‰ใ—ใชใ„ใ‚‚ใฎ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ€ใƒใƒณใƒŠๅž‹ใฏๅ†…่ฆ–้ก็š„ใซใ‚‚็—…็†ๅญฆ็š„ใซใ‚‚ๆ˜Ž็ขบใช็•ฐๅธธๆ‰€่ฆ‹ใ‚’ๆœ‰ใ—ใ€็—‡็Šถ็š„ใซใ‚‚ใ‚ˆใ‚Š้‡็—‡ใงใ‚ใ‚‹ใ€‚ไธญ้ซ˜้ฝขใฎๅฅณๆ€งใซๅคšใ„ใŒใ€็”ทๆ€งใ‚„ๅฐๅ…ใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€่†€่ƒฑ็ฒ˜่†œใฎๆฉŸ่ƒฝ้šœๅฎณใ‚„ๅ…็–ซๅญฆ็š„ๆฉŸๅบใŒๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ปๅ›žใชๆŽ’ๅฐฟใ‚„่†€่ƒฑใฎ็—›ใฟใซใ‚ˆใ‚‹่‹ฆ็—›ใ‹ใ‚‰็”Ÿๆดปใฎ่ณชใฏๅคงใใๆใชใ‚ใ‚Œใ‚‹ใ€‚็ขบ็ซ‹ใ—ใŸๆฒป็™‚ๆณ•ใฏใชใใ€ๅฏพ็—‡็š„ใชๆฒป็™‚ใซ็•™ใพใ‚‹ใ€‚ๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ—้•ทๆœŸใซใ‚ใŸใ‚‹ๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ - 1200743 - - Interstitial Cystitis ๏ผˆHunner type๏ผ‰ + + 226 + ้–“่ณชๆ€ง่†€่ƒฑ็‚Žใจใฏใ€ใ€Œ่†€่ƒฑใฎ้ž็‰น็•ฐ็š„ใชๆ…ขๆ€ง็‚Ž็—‡ใ‚’ไผดใ„ใ€้ ปๅฐฟใƒปๅฐฟๆ„ไบข้€ฒใƒปๅฐฟๆ„ๅˆ‡่ฟซๆ„Ÿใƒป่†€่ƒฑ็—›ใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€๏ผˆ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž่จบ็™‚ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใซใ‚ˆใ‚‹๏ผ‰ใงใ‚ใ‚‹ใ€‚ใใฎ็—…ๅž‹ใฏใƒใƒณใƒŠๅž‹๏ผˆใƒใƒณใƒŠ็—…ๅค‰ใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎ๏ผ‰ใจ้žใƒใƒณใƒŠๅž‹๏ผˆๆœ‰ใ—ใชใ„ใ‚‚ใฎ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ€ใƒใƒณใƒŠๅž‹ใฏๅ†…่ฆ–้ก็š„ใซใ‚‚็—…็†ๅญฆ็š„ใซใ‚‚ๆ˜Ž็ขบใช็•ฐๅธธๆ‰€่ฆ‹ใ‚’ๆœ‰ใ—ใ€็—‡็Šถ็š„ใซใ‚‚ใ‚ˆใ‚Š้‡็—‡ใงใ‚ใ‚‹ใ€‚ไธญ้ซ˜้ฝขใฎๅฅณๆ€งใซๅคšใ„ใŒใ€็”ทๆ€งใ‚„ๅฐๅ…ใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€่†€่ƒฑ็ฒ˜่†œใฎๆฉŸ่ƒฝ้šœๅฎณใ‚„ๅ…็–ซๅญฆ็š„ๆฉŸๅบใŒๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ปๅ›žใชๆŽ’ๅฐฟใ‚„่†€่ƒฑใฎ็—›ใฟใซใ‚ˆใ‚‹่‹ฆ็—›ใ‹ใ‚‰็”Ÿๆดปใฎ่ณชใฏๅคงใใๆใชใ‚ใ‚Œใ‚‹ใ€‚็ขบ็ซ‹ใ—ใŸๆฒป็™‚ๆณ•ใฏใชใใ€ๅฏพ็—‡็š„ใชๆฒป็™‚ใซ็•™ใพใ‚‹ใ€‚ๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ—้•ทๆœŸใซใ‚ใŸใ‚‹ๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ + NANDO:1200743 + + Interstitial cystitis (Hunner type) + ใ‹ใ‚“ใ—ใคใ›ใ„ใผใ†ใ“ใ†ใˆใ‚“(ใฏใ‚“ใชใŒใŸ) ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰ - + Interstitial cystitis Interstitial cystitis with Hunners ulcer ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰ - - 227 - ใ‚ชใ‚นใƒฉใƒผ็—…๏ผˆ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผ‰ใฏใ€๏ผ‘๏ผŽ้ผปๅ‡บ่ก€ใ€๏ผ’๏ผŽ่ˆŒใƒปๅฃ่…”็ฒ˜่†œใƒปๆŒ‡ใƒป้ผปใฎๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€๏ผ“๏ผŽๅ†…่‡“็—…ๅค‰๏ผˆ่ƒƒ่…ธๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€่‚บใ€่‚ใ€่„ณใ€่„Š้ซ„ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ€ ๏ผ”๏ผŽๅฎถๆ—ๆญด๏ผˆ้บไผๆ€ง๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200744 - + + 227 + ใ‚ชใ‚นใƒฉใƒผ็—…๏ผˆ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผ‰ใฏใ€๏ผ‘๏ผŽ้ผปๅ‡บ่ก€ใ€๏ผ’๏ผŽ่ˆŒใƒปๅฃ่…”็ฒ˜่†œใƒปๆŒ‡ใƒป้ผปใฎๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€๏ผ“๏ผŽๅ†…่‡“็—…ๅค‰๏ผˆ่ƒƒ่…ธๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€่‚บใ€่‚ใ€่„ณใ€่„Š้ซ„ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ€ ๏ผ”๏ผŽๅฎถๆ—ๆญด๏ผˆ้บไผๆ€ง๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200744 + Osler disease + ใŠใ™ใ‚‰ใƒผใณใ‚‡ใ† ใ‚ชใ‚นใƒฉใƒผ็—… - + Hereditary hemorrhagic telangiectasia ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡ ใ‚ชใ‚นใƒฉใƒผ็—… - - 228 - ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Žใฏใ€็‰น็™บๆ€งใ‚‚ใ—ใใฏๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚Šๆœซๆขขๆฐ—้“ใงใ‚ใ‚‹็ดฐๆฐ—็ฎกๆ”ฏใฎไธๅฏ้€†็š„้–‰ๅกžใ‚’ๆฅใ™ใ“ใจใซใ‚ˆใ‚Šๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200745 - + + 228 + ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Žใฏใ€็‰น็™บๆ€งใ‚‚ใ—ใใฏๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚Šๆœซๆขขๆฐ—้“ใงใ‚ใ‚‹็ดฐๆฐ—็ฎกๆ”ฏใฎไธๅฏ้€†็š„้–‰ๅกžใ‚’ๆฅใ™ใ“ใจใซใ‚ˆใ‚Šๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200745 + Bronchiolitis obliterans + ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“ ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž + - + Obliterating bronchiolitis ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž - - 229 - ่‚บ่ƒž่›‹็™ฝ็—‡๏ผˆPAP๏ผ‰ใฏ1958ๅนดRosenใ‚‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€ๆˆ‘ใŒๅ›ฝใงใฏ1960ๅนดๅฒกใ‚‰ใซใ‚ˆใฃใฆ็ดนไป‹ใ•ใ‚ŒใŸ็จ€ๅฐ‘่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ่ƒž่›‹็™ฝ็—‡ใฏใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆใฎ็”Ÿๆˆๅˆใฏๅˆ†่งฃ้Ž็จ‹้šœๅฎณใซใ‚ˆใ‚Š่‚บ่ƒž่…”ๅ†…ใ‚’ไธปใจใ—ใฆๆœซๆขขๆฐ—่…”ๅ†…ใซใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆ็”ฑๆฅ็‰ฉ่ณชใงใ‚ใ‚‹ๅฅฝ้…ธๆ€งใฎ้ก†็ฒ’็Šถใฎ่›‹็™ฝๆง˜็‰ฉ่ณชใฎ็•ฐๅธธ่ฒฏ็•™ใ‚’ๆฅใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆŒ‡ๅฎš้›ฃ็—…ใฏใ€่‡ชๅทฑๅ…็–ซๆ€งPAPใจๅ…ˆๅคฉๆ€งPAPใงใ‚ใ‚‹ใ€‚ - 1200746 - + + 229 + ่‚บ่ƒž่›‹็™ฝ็—‡๏ผˆPAP๏ผ‰ใฏ1958ๅนดRosenใ‚‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€ๆˆ‘ใŒๅ›ฝใงใฏ1960ๅนดๅฒกใ‚‰ใซใ‚ˆใฃใฆ็ดนไป‹ใ•ใ‚ŒใŸ็จ€ๅฐ‘่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ่ƒž่›‹็™ฝ็—‡ใฏใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆใฎ็”Ÿๆˆๅˆใฏๅˆ†่งฃ้Ž็จ‹้šœๅฎณใซใ‚ˆใ‚Š่‚บ่ƒž่…”ๅ†…ใ‚’ไธปใจใ—ใฆๆœซๆขขๆฐ—่…”ๅ†…ใซใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆ็”ฑๆฅ็‰ฉ่ณชใงใ‚ใ‚‹ๅฅฝ้…ธๆ€งใฎ้ก†็ฒ’็Šถใฎ่›‹็™ฝๆง˜็‰ฉ่ณชใฎ็•ฐๅธธ่ฒฏ็•™ใ‚’ๆฅใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆŒ‡ๅฎš้›ฃ็—…ใฏใ€่‡ชๅทฑๅ…็–ซๆ€งPAPใจๅ…ˆๅคฉๆ€งPAPใงใ‚ใ‚‹ใ€‚ + NANDO:1200746 + pulmonary alveolar proteinosis + ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ† ่‚บ่ƒž่›‹็™ฝ็—‡ - + Congenital pulmonary alveolar proteinosis Hereditary pulmonary alveolar proteinosis + PAP ่‚บ่ƒž่›‹็™ฝ็—‡ - - 229 - 1200747 - + + 229 + NANDO:1200747 + Autoimmune pulmonary alveolar proteinosis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - + ่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - - 229 - 1200748 - + + 229 + NANDO:1200748 + Idiopathic pulmonary alveolar proteinosis + ใจใใฏใคใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ† ็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - + ็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - - 229 - 1200749 - + + 229 + NANDO:1200749 + Secondary Pulmonary Alveolar Proteinosis + ใžใใฏใคใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ† ็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - + ็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - - 229 - 1200750 - - Congenital pulmonary alveolar proteinosis + + 229 + NANDO:1200750 + + Congenital alveolar proteinosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ + - + Hereditary pulmonary alveolar proteinosis ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - - 230 - ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—้šœๅฎณ๏ผˆsleep related hypoventilation disorders๏ผ‰ใซใฏไปฅไธ‹ใฎ๏ผ–็—…ๆ…‹ใŒๅซใพใ‚Œใ‚‹ใ€‚โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘กๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital central hypoventilation syndrome: CCHS๏ผ‰ใ€โ‘ข่ฆ–ๅบŠไธ‹้ƒจๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้…็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—ใ€โ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘ค่–ฌๅ‰คใ‚„็‰ฉ่ณชใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€โ‘ฅ่บซไฝ“้šœๅฎณใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€‚ใ“ใ‚Œใ‚‰ใฎไธญใงใ€โ‘ขใ€โ‘คใ€โ‘ฅใ‚’้™คๅค–ใ—ใ€โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎไธ€้ƒจ๏ผˆ่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใŒCPAPใซใ‚ˆใ‚‹ๆฒป็™‚ใงใ‚‚ๆ”นๅ–„ใ—ใชใ„ๅ ดๅˆใ‚’ใ„ใ†ใ€‚๏ผ‰ใ€โ‘กCCHSใ€ใŠใ‚ˆใณโ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใคใ„ใฆใฏใ€่‚บ่ƒžไฝŽๆ›ๆฐ—ใฎไธปใŸใ‚‹็—…ๆ…‹ใจใ—ใฆๅ‘ผๅธ่ชฟ็ฏ€็ณปใฎ็•ฐๅธธใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ‚’่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆalveolar hypoventilation syndrome:AHS๏ผ‰ใจใ™ใ‚‹ใ€‚่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใŠใ‘ใ‚‹่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่‚ฅๆบ€ใฎๅญ˜ๅœจใจใฏ้–ขไฟ‚ใ—ใชใ„ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏๆง˜ใ€…ใช็—…ๆ…‹ใง่ตทใ“ใ‚Šๅพ—ใ‚‹ใฎใงใ€ไบŒๆฌกๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎ้‘‘ๅˆฅใ‚’ใ—ใฆใ€AHSใฎ่จบๆ–ญใ‚’ใ™ใ‚‹ใ€‚้›ฃๆฒปๆ€ง็จ€ๅฐ‘ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็™บ็—‡ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ๅ‘ผๅธไธญๆžขๆฉŸ่ƒฝ็•ฐๅธธใซ้–ขไฟ‚ใ—ใŸ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—๏ผˆ่ฆš้†’ใ‹ใ‚‰็ก็œ ใซใชใ‚‹ใจๅ‘ผๅธ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚๏ผ‰ใ€ๅ‘ผๅธ่ชฟ็ฏ€็•ฐๅธธ๏ผˆ็„กๆ„่ญ˜ใงใฏ็”Ÿ็†ๅญฆ็š„ใซๆญฃๅธธใชๅ‘ผๅธ็Šถๆ…‹ใ‚’็ถญๆŒใงใใชใ„ใ€‚๏ผ‰ใŒ็—…ๆ…‹ใฎไธปไฝ“ใงใ‚ใ‚‹ใ€‚AHSใฏใ€ๅ‘ผๅธๅ™จใƒป่ƒธ้ƒญใƒป่‚บๆฉŸ่ƒฝไธŠใซๆ˜Žใ‚‰ใ‹ใช็•ฐๅธธใŒใชใ„ใ€ใพใŸใฏ่ปฝๅบฆใฎ็•ฐๅธธใŒใ‚ใฃใฆใ‚‚AHSใฎไธปใŸใ‚‹ๅŽŸๅ› ใจใฏ่€ƒใˆใ‚‰ใ‚Œใชใ„ใ€‚ใ™ใชใ‚ใกใ€ๅ‘ผๅธ่ชฟ็ฏ€ไธŠใฎ็•ฐๅธธใŒไธปใŸใ‚‹็—…ๆ…‹ใง็ก็œ ๆ™‚ใซ่‚บ่ƒžไฝŽๆ›ๆฐ—๏ผˆ้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใจไฝŽ้…ธ็ด ่ก€็—‡๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่ฆš้†’ไธญใ‚ˆใ‚Šใ‚‚็ก็œ ไธญใซๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ - 1200751 - + + 230 + ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—้šœๅฎณ๏ผˆsleep related hypoventilation disorders๏ผ‰ใซใฏไปฅไธ‹ใฎ๏ผ–็—…ๆ…‹ใŒๅซใพใ‚Œใ‚‹ใ€‚โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘กๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital central hypoventilation syndrome: CCHS๏ผ‰ใ€โ‘ข่ฆ–ๅบŠไธ‹้ƒจๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้…็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—ใ€โ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘ค่–ฌๅ‰คใ‚„็‰ฉ่ณชใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€โ‘ฅ่บซไฝ“้šœๅฎณใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€‚ใ“ใ‚Œใ‚‰ใฎไธญใงใ€โ‘ขใ€โ‘คใ€โ‘ฅใ‚’้™คๅค–ใ—ใ€โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎไธ€้ƒจ๏ผˆ่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใŒCPAPใซใ‚ˆใ‚‹ๆฒป็™‚ใงใ‚‚ๆ”นๅ–„ใ—ใชใ„ๅ ดๅˆใ‚’ใ„ใ†ใ€‚๏ผ‰ใ€โ‘กCCHSใ€ใŠใ‚ˆใณโ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใคใ„ใฆใฏใ€่‚บ่ƒžไฝŽๆ›ๆฐ—ใฎไธปใŸใ‚‹็—…ๆ…‹ใจใ—ใฆๅ‘ผๅธ่ชฟ็ฏ€็ณปใฎ็•ฐๅธธใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ‚’่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆalveolar hypoventilation syndrome:AHS๏ผ‰ใจใ™ใ‚‹ใ€‚่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใŠใ‘ใ‚‹่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่‚ฅๆบ€ใฎๅญ˜ๅœจใจใฏ้–ขไฟ‚ใ—ใชใ„ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏๆง˜ใ€…ใช็—…ๆ…‹ใง่ตทใ“ใ‚Šๅพ—ใ‚‹ใฎใงใ€ไบŒๆฌกๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎ้‘‘ๅˆฅใ‚’ใ—ใฆใ€AHSใฎ่จบๆ–ญใ‚’ใ™ใ‚‹ใ€‚้›ฃๆฒปๆ€ง็จ€ๅฐ‘ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็™บ็—‡ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ๅ‘ผๅธไธญๆžขๆฉŸ่ƒฝ็•ฐๅธธใซ้–ขไฟ‚ใ—ใŸ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—๏ผˆ่ฆš้†’ใ‹ใ‚‰็ก็œ ใซใชใ‚‹ใจๅ‘ผๅธ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚๏ผ‰ใ€ๅ‘ผๅธ่ชฟ็ฏ€็•ฐๅธธ๏ผˆ็„กๆ„่ญ˜ใงใฏ็”Ÿ็†ๅญฆ็š„ใซๆญฃๅธธใชๅ‘ผๅธ็Šถๆ…‹ใ‚’็ถญๆŒใงใใชใ„ใ€‚๏ผ‰ใŒ็—…ๆ…‹ใฎไธปไฝ“ใงใ‚ใ‚‹ใ€‚AHSใฏใ€ๅ‘ผๅธๅ™จใƒป่ƒธ้ƒญใƒป่‚บๆฉŸ่ƒฝไธŠใซๆ˜Žใ‚‰ใ‹ใช็•ฐๅธธใŒใชใ„ใ€ใพใŸใฏ่ปฝๅบฆใฎ็•ฐๅธธใŒใ‚ใฃใฆใ‚‚AHSใฎไธปใŸใ‚‹ๅŽŸๅ› ใจใฏ่€ƒใˆใ‚‰ใ‚Œใชใ„ใ€‚ใ™ใชใ‚ใกใ€ๅ‘ผๅธ่ชฟ็ฏ€ไธŠใฎ็•ฐๅธธใŒไธปใŸใ‚‹็—…ๆ…‹ใง็ก็œ ๆ™‚ใซ่‚บ่ƒžไฝŽๆ›ๆฐ—๏ผˆ้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใจไฝŽ้…ธ็ด ่ก€็—‡๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่ฆš้†’ไธญใ‚ˆใ‚Šใ‚‚็ก็œ ไธญใซๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ + NANDO:1200751 + Alveolar hypoventilation syndrome + ใฏใ„ใปใ†ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - + AHS - - ่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - 230 - 1200752 - + + 230 + NANDO:1200752 + obesity hypoventilation syndrome + ใฒใพใ‚“ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - + - + OHS - - ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - 230 - 1200753 - + + 230 + NANDO:1200753 + Congenital central hypoventilation syndrome + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค + - + CCHS ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - 230 - 1200754 - + + 230 + NANDO:1200754 + Idiopathic central hypoventilation syndrome + ใจใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - + ็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - 231 - ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณ๏ผˆAAT๏ผ‰ๆฌ ไน็—‡๏ผˆฮฑ1-antitrypsin deficiency๏ผšAATD๏ผ‰ใฏใ€AATใฎๆฌ ไนใซใ‚ˆใ‚Šใ€่‹ฅๅนดๆ€งใซๆ…ขๆ€ง้–‰ๅกžๆ€ง่‚บ็–พๆ‚ฃ๏ผˆChronic Obstructive Pulmonary Disease๏ผšCOPD๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฏใ€AATๆฌ ๆ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใŸใŒใ€COPD็™บ็—‡ไปฎ่ชฌใ‹ใ‚‰่€ƒๆ…ฎใ™ใ‚‹ใจใ€่‚บใฎ้˜ฒๅพกๅ› ๅญใงใ‚ใ‚‹AATใฎๆธ›ๅฐ‘ใฏCOPD็™บ็—‡็ด ๅ› ใซใชใ‚Šใ†ใ‚‹ใŸใ‚ใ€AATๆฌ ไน็—‡ใจใ™ใ‚‹ใ€‚AATDใฏใ€่ก€ๆธ…AATๆฟƒๅบฆ๏ผœ90mg/dL๏ผˆใƒใƒ•ใ‚งใƒญใƒกใƒˆใƒชใƒผๆณ•๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€่ปฝ็—‡๏ผˆ50mg/dLโ‰ฆ่ก€ๆธ…AAT๏ผœ90mg/dL๏ผ‰ใ€้‡็—‡๏ผˆ่ก€ๆธ…AAT๏ผœ50mg/dL๏ผ‰ใ€ใฎ๏ผ’ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใชใŠใ€AATD้กž็ธ่‚บ็–พๆ‚ฃใจใ—ใฆใ€่ก€ๆธ…AATใŒๆญฃๅธธ็ฏ„ๅ›ฒใงใ‚‚ใ€AATDใจ้กžไผผใ—ใŸ็—…ๆ…‹๏ผˆ55ๆญณๆœชๆบ€ใง็™บ็—‡ใ™ใ‚‹้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณ๏ผ‰ใ‚’็คบใ™็—‡ไพ‹ใŒใ‚ใ‚Šใ€AATไปฅๅค–ใฎๆœช็Ÿฅใฎ็™บ็—‡็ด ๅ› ใซใ‚ˆใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏไปŠๅพŒใฎ็ ”็ฉถ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚AATD้กž็ธ่‚บ็–พๆ‚ฃใ‚’ๅซใ‚€่‹ฅๅนด็™บ็—‡้‡็—‡COPDใฏใ€้‡ๅบฆใฎๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใ‚ใ‚Šใ€่–ฌ็‰ฉๆฒป็™‚ใซใ‚‚ไฟ‚ใ‚‰ใš45๏ผ…ใฎๆ‚ฃ่€…ใงๅœจๅฎ…้…ธ็ด ็™‚ๆณ•ใ‚’่ฆใ—ใ€ๅข—ๆ‚ชใฎ้ ปๅบฆใŒๅคšใ„ใจใ„ใ†้‡็—‡ใƒป้›ฃๆฒปๆ€งใฎ็—…ๅƒใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€AATDใฏ้€šๅธธใฎCOPDใจใฏ็•ฐใชใ‚‹็–พ็—…ใงใ‚ใ‚Šใ€ๅ–ซ็…™ใฎๅฝฑ้Ÿฟใ‚’ใใฎ็™บ็—‡่ฆๅ› ใจใ—ใฆใฏใ€ใปใผ่€ƒๆ…ฎใ‹ใ‚‰ๅค–ใ›ใ‚‹็–พ็—…ใงใ‚ใ‚‹ใ€‚ - 1200755 - + + 231 + ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณ๏ผˆAAT๏ผ‰ๆฌ ไน็—‡๏ผˆฮฑ1-antitrypsin deficiency๏ผšAATD๏ผ‰ใฏใ€AATใฎๆฌ ไนใซใ‚ˆใ‚Šใ€่‹ฅๅนดๆ€งใซๆ…ขๆ€ง้–‰ๅกžๆ€ง่‚บ็–พๆ‚ฃ๏ผˆChronic Obstructive Pulmonary Disease๏ผšCOPD๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฏใ€AATๆฌ ๆ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใŸใŒใ€COPD็™บ็—‡ไปฎ่ชฌใ‹ใ‚‰่€ƒๆ…ฎใ™ใ‚‹ใจใ€่‚บใฎ้˜ฒๅพกๅ› ๅญใงใ‚ใ‚‹AATใฎๆธ›ๅฐ‘ใฏCOPD็™บ็—‡็ด ๅ› ใซใชใ‚Šใ†ใ‚‹ใŸใ‚ใ€AATๆฌ ไน็—‡ใจใ™ใ‚‹ใ€‚AATDใฏใ€่ก€ๆธ…AATๆฟƒๅบฆ๏ผœ90mg/dL๏ผˆใƒใƒ•ใ‚งใƒญใƒกใƒˆใƒชใƒผๆณ•๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€่ปฝ็—‡๏ผˆ50mg/dLโ‰ฆ่ก€ๆธ…AAT๏ผœ90mg/dL๏ผ‰ใ€้‡็—‡๏ผˆ่ก€ๆธ…AAT๏ผœ50mg/dL๏ผ‰ใ€ใฎ๏ผ’ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใชใŠใ€AATD้กž็ธ่‚บ็–พๆ‚ฃใจใ—ใฆใ€่ก€ๆธ…AATใŒๆญฃๅธธ็ฏ„ๅ›ฒใงใ‚‚ใ€AATDใจ้กžไผผใ—ใŸ็—…ๆ…‹๏ผˆ55ๆญณๆœชๆบ€ใง็™บ็—‡ใ™ใ‚‹้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณ๏ผ‰ใ‚’็คบใ™็—‡ไพ‹ใŒใ‚ใ‚Šใ€AATไปฅๅค–ใฎๆœช็Ÿฅใฎ็™บ็—‡็ด ๅ› ใซใ‚ˆใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏไปŠๅพŒใฎ็ ”็ฉถ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚AATD้กž็ธ่‚บ็–พๆ‚ฃใ‚’ๅซใ‚€่‹ฅๅนด็™บ็—‡้‡็—‡COPDใฏใ€้‡ๅบฆใฎๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใ‚ใ‚Šใ€่–ฌ็‰ฉๆฒป็™‚ใซใ‚‚ไฟ‚ใ‚‰ใš45๏ผ…ใฎๆ‚ฃ่€…ใงๅœจๅฎ…้…ธ็ด ็™‚ๆณ•ใ‚’่ฆใ—ใ€ๅข—ๆ‚ชใฎ้ ปๅบฆใŒๅคšใ„ใจใ„ใ†้‡็—‡ใƒป้›ฃๆฒปๆ€งใฎ็—…ๅƒใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€AATDใฏ้€šๅธธใฎCOPDใจใฏ็•ฐใชใ‚‹็–พ็—…ใงใ‚ใ‚Šใ€ๅ–ซ็…™ใฎๅฝฑ้Ÿฟใ‚’ใใฎ็™บ็—‡่ฆๅ› ใจใ—ใฆใฏใ€ใปใผ่€ƒๆ…ฎใ‹ใ‚‰ๅค–ใ›ใ‚‹็–พ็—…ใงใ‚ใ‚‹ใ€‚ + NANDO:1200755 + Alpha-1-antitrypsin deficiency - ฮฑ1โˆ’ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ไน็—‡ + ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡ + ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - + + AATD + ฮฑ-1-antitrypsin deficiency - ฮฑ1โˆ’ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ไน็—‡ + ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡ - - 232 - ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ๏ผˆCarney่ค‡ๅˆ๏ผ‰ใฏใ€็ฒ˜ๆถฒ่…ซใ€็šฎ่†šใฎ่‰ฒ็ด ๆ–‘ใ€ๅ†…ๅˆ†ๆณŒๆฉŸ่ƒฝไบข้€ฒ็Šถๆ…‹ใ‚’ๅˆไฝตใ—ใŸ็—‡ไพ‹ใ‚’ใพใจใ‚ใ€1985ๅนดใซๅไป˜ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ใ“ใฎใ†ใก๏ผ’ใคไปฅไธŠใฎ็—‡ๅ€™ใŒใ‚ใ‚Œใฐ่‡จๅบŠ็š„ใซ่จบๆ–ญใ•ใ‚ŒใฆใใŸใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ€ๅ…ˆ็ซฏ่‚ฅๅคง็—‡ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใ€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ€ๅ†…ๅˆ†ๆณŒ่…บ่…ซ็˜ใชใฉๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใ‚‰ใ‚’ๅฅ‘ๆฉŸใจใ—ใฆ่จบๆ–ญใซ็ตใณใคใใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€ๅคš็™บๆ€ง่…ซ็˜็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ - 1200756 - + + 232 + ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ๏ผˆCarney่ค‡ๅˆ๏ผ‰ใฏใ€็ฒ˜ๆถฒ่…ซใ€็šฎ่†šใฎ่‰ฒ็ด ๆ–‘ใ€ๅ†…ๅˆ†ๆณŒๆฉŸ่ƒฝไบข้€ฒ็Šถๆ…‹ใ‚’ๅˆไฝตใ—ใŸ็—‡ไพ‹ใ‚’ใพใจใ‚ใ€1985ๅนดใซๅไป˜ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ใ“ใฎใ†ใก๏ผ’ใคไปฅไธŠใฎ็—‡ๅ€™ใŒใ‚ใ‚Œใฐ่‡จๅบŠ็š„ใซ่จบๆ–ญใ•ใ‚ŒใฆใใŸใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ€ๅ…ˆ็ซฏ่‚ฅๅคง็—‡ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใ€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ€ๅ†…ๅˆ†ๆณŒ่…บ่…ซ็˜ใชใฉๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใ‚‰ใ‚’ๅฅ‘ๆฉŸใจใ—ใฆ่จบๆ–ญใซ็ตใณใคใใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€ๅคš็™บๆ€ง่…ซ็˜็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ + NANDO:1200756 + Carney complex + ใ‹ใƒผใซใƒผใตใใ”ใ† ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ - + ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ - - 233 - ่‹ฅๅนด็™บ็—‡ใฎ็ณ–ๅฐฟ็—…ใŒๅˆ็™บ็—‡็Šถใจใชใ‚Šใ€ๆฌกใ„ใง่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ‚ˆใ‚Š่ฆ–ๅŠ›้šœๅฎณใ‚’ๆฅใ™ใ€‚ใ“ใฎ๏ผ’ใคใฎ็‰นๅพด็š„ใช็—‡ๅ€™ใฎๅˆไฝตใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚ใ€€็ณ–ๅฐฟ็—…ใจ่ฆ–็ฅž็ตŒ่Ž็ธฎใซๅŠ ใˆใฆๅ†…ๅˆ†ๆณŒไปฃ่ฌ็ณปใ€็ฒพ็ฅž็ฅž็ตŒ็ณปใ‚’ๅบƒ็ฏ„ใซ้šœๅฎณใ—ใ€ๅฐฟๅดฉ็—‡ใ€้›ฃ่ดใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅคšๅฝฉใช็ฅž็ตŒใƒป็ฒพ็ฅž็—‡็Šถใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธป่ฆๅพดๅ€™ใ‚’่‹ฑ่ชžใง็พใ—ใŸใจใใฎ้ ญๆ–‡ๅญ—ใ‚’ๅ–ใฃใฆDIDMOAD็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 1200757 - + + 233 + ่‹ฅๅนด็™บ็—‡ใฎ็ณ–ๅฐฟ็—…ใŒๅˆ็™บ็—‡็Šถใจใชใ‚Šใ€ๆฌกใ„ใง่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ‚ˆใ‚Š่ฆ–ๅŠ›้šœๅฎณใ‚’ๆฅใ™ใ€‚ใ“ใฎ๏ผ’ใคใฎ็‰นๅพด็š„ใช็—‡ๅ€™ใฎๅˆไฝตใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚ใ€€็ณ–ๅฐฟ็—…ใจ่ฆ–็ฅž็ตŒ่Ž็ธฎใซๅŠ ใˆใฆๅ†…ๅˆ†ๆณŒไปฃ่ฌ็ณปใ€็ฒพ็ฅž็ฅž็ตŒ็ณปใ‚’ๅบƒ็ฏ„ใซ้šœๅฎณใ—ใ€ๅฐฟๅดฉ็—‡ใ€้›ฃ่ดใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅคšๅฝฉใช็ฅž็ตŒใƒป็ฒพ็ฅž็—‡็Šถใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธป่ฆๅพดๅ€™ใ‚’่‹ฑ่ชžใง็พใ—ใŸใจใใฎ้ ญๆ–‡ๅญ—ใ‚’ๅ–ใฃใฆDIDMOAD็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200757 + Wolfram syndrome + ใ†ใ‰ใ‚‹ใตใ‚‰ใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค - + ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค - - 234 - ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏ็ดฐ่ƒžๅ†…ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใƒปใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใใ‚Œใ‚‰ใฎใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชPEXใ‚ฟใƒณใƒ‘ใ‚ฏใฎ้บไผๅญ็•ฐๅธธ็—‡๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ๏ผ’ใคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Šๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ไปฃ่ฌ็ณปใŒ้šœๅฎณใ•ใ‚Œใ€ไธญๆžข็ฅž็ตŒ็ณปใ‚’ไธญๅฟƒใซๅฏพ่ฑกใจใชใ‚‹่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ—ใฆๅคšๅฒใซใ‚ใŸใ‚‹่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๆœ€ใ‚‚้‡็ฏคใ‹ใคใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎๆฅตๅž‹ใงใ‚ใ‚‹ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใชใฉ15ใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ“ใงใฏๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’้™คใ„ใŸใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ - 1200758 + + 234 + ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏ็ดฐ่ƒžๅ†…ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใƒปใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใใ‚Œใ‚‰ใฎใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชPEXใ‚ฟใƒณใƒ‘ใ‚ฏใฎ้บไผๅญ็•ฐๅธธ็—‡๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ๏ผ’ใคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Šๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ไปฃ่ฌ็ณปใŒ้šœๅฎณใ•ใ‚Œใ€ไธญๆžข็ฅž็ตŒ็ณปใ‚’ไธญๅฟƒใซๅฏพ่ฑกใจใชใ‚‹่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ—ใฆๅคšๅฒใซใ‚ใŸใ‚‹่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๆœ€ใ‚‚้‡็ฏคใ‹ใคใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎๆฅตๅž‹ใงใ‚ใ‚‹ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใชใฉ15ใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ“ใงใฏๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’้™คใ„ใŸใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ + NANDO:1200758 Peroxisomal Disorder + ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ† ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—… - - Peroxisomal disease + + Peroxisomal disease ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—… - - 234 - 1200759 - + + 234 + NANDO:1200759 + Peroxisome biogenesis disorders + ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡ + - + + PEX้บไผๅญ็•ฐๅธธ็—‡ - ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡ - - 234 - 1200760 - + + 234 + NANDO:1200760 + Zellweger syndrome + ใคใ‡ใ‚‹ในใƒผใŒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค + - + ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค - - 234 - 1200761 - + + 234 + NANDO:1200761 + Neonatal adrenoleukodystrophy + ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 234 - 1200762 - + + 234 + NANDO:1200762 + Infantile Refsum disease + ใซใ‚…ใ†ใ˜ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ† ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—… - - - + ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—… - - 234 - 1200763 - + + 234 + NANDO:1200763 + Rhizomelic chondrodysplasia punctata type 1 + ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†1ใŒใŸ ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹ - + RCDP type 1 ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹ - - 234 - 1200764 - + + 234 + NANDO:1200764 + Peroxisomal beta-oxidation enzyme deficiency + ใบใ‚‹ใŠใใ—ใใƒผใ‚€ในใƒผใŸใ•ใ‚“ใ‹ใ‘ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡ - + + ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡ - - 234 - 1200765 - + + 234 + NANDO:1200765 + Peroxisomal acyl-CoA oxidase deficiency - ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใ‚ฟใ‚™ใƒผใ‚ปใ‚™ๆฌ ๆ็—‡ + ใ‚ใ—ใ‚‹ ใ“ใˆใƒผใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ + - + AOXๆฌ ๆ็—‡ - ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใ‚ฟใ‚™ใƒผใ‚ปใ‚™ๆฌ ๆ็—‡ + ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - - 234 - 1200766 - + + 234 + NANDO:1200766 + D-bifunctional protein deficiency D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡ + ใงใƒใƒผใซใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + DBPๆฌ ๆ็—‡ D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡ - - 234 - 1200767 - + + 234 + NANDO:1200767 + Sterol carrier protein 2 deficiency + ใ™ใฆใ‚ใƒผใ‚‹ใใ‚ƒใ‚Šใ‚ใทใ‚ใฆใ„ใ‚“ใˆใฃใใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡ - + SCPxๆฌ ๆ็—‡ ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡ - - 234 - 1200768 - + + 234 + NANDO:1200768 + + 2ใ‚ใกใ‚‹ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ‚‰ใ›ใพใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† Alpha-methylacyl-CoA racemase deficiency ๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡ - + AMACRๆฌ ๆ็—‡ ๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡ - - 234 - 1200769 - + + 234 + NANDO:1200769 + Refsum disease + ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ† ใƒฌใƒ•ใ‚ตใƒ ็—… + - + ใƒฌใƒ•ใ‚ตใƒ ็—… - - 234 - 1200770 - + + 234 + NANDO:1200770 + Plasmalogen biosynthesis enzyme deficiency + ใทใ‚‰ใ™ใพใ‚ใƒผใ’ใ‚“ใ”ใ†ใ›ใ„ใ‘ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡ - + + ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡ - - 234 - 1200771 - - Rhizomelic chondrodysplasia punctata type2 + + 234 + NANDO:1200771 + + Rhizomelic chondrodysplasia punctata type 2 + ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹ + - - RCDP type2 + + RCDP type 2 + ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹ - - 234 - 1200772 - - Rhizomelic chondrodysplasia punctata type3 + + 234 + NANDO:1200772 + + Rhizomelic chondrodysplasia punctata type 3 + ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†3ใŒใŸ ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹ + - - RCDP type3 + + RCDP type 3 + ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹ - - 234 - 1200773 - + + 234 + NANDO:1200773 + Primary hyperoxaluria type 1 + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ—ใ‚…ใ†ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹ - + ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹ - - 234 - 1200774 - + + 234 + NANDO:1200774 + Acatalasemia + ใ‚ใ‹ใŸใ‚‰ใ›ใฟใ‚ ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข - - + + + Acatalasaemia Acatalasia ็„กใ‚ซใ‚ฟใƒฉใƒผใ‚ผ่ก€็—‡ ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข - - 235 - ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆparathyroid hormone๏ผšPTH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹PTHไฝœ็”จ้šœๅฎณใ‹ใ‚‰ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚„้ซ˜ใƒชใƒณ่ก€็—‡ใŒๆƒน่ตทใ•ใ‚Œใ€ไธปใซไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅ•้กŒใจใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200775 - + + 235 + ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆparathyroid hormone๏ผšPTH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹PTHไฝœ็”จ้šœๅฎณใ‹ใ‚‰ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚„้ซ˜ใƒชใƒณ่ก€็—‡ใŒๆƒน่ตทใ•ใ‚Œใ€ไธปใซไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅ•้กŒใจใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200775 + Hypoparathyroidism + ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ + - + Accessory thyroid hypergasia disease ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 236 - ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200776 - + + 236 + ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200776 + Pseudohypoparathyroidism + ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ + - + ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 237 - ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆACTH๏ผ‰ไธๅฟœ็—‡ใฏใ€ๅฎถๆ—ๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…ใ‹ใ‚‰็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใงใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅŠใณๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ™ใ‚‹ใŒใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ACTHไธๅฟœ็—‡ใฏใ€็„กๆถ™็—‡๏ผˆalacrima๏ผ‰ใ€ใ‚ขใ‚ซใƒฉใ‚ทใ‚ข๏ผˆachalasia๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€Triple A็—‡ๅ€™็พค๏ผˆAllgrove็—‡ๅ€™็พค๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 1200777 - - Adrenocorticotropic Hormone Insensitivity + + 237 + ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆACTH๏ผ‰ไธๅฟœ็—‡ใฏใ€ๅฎถๆ—ๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…ใ‹ใ‚‰็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใงใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅŠใณๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ™ใ‚‹ใŒใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ACTHไธๅฟœ็—‡ใฏใ€็„กๆถ™็—‡๏ผˆalacrima๏ผ‰ใ€ใ‚ขใ‚ซใƒฉใ‚ทใ‚ข๏ผˆachalasia๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€Triple A็—‡ๅ€™็พค๏ผˆAllgrove็—‡ๅ€™็พค๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:1200777 + + ACTH unresponsiveness + ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ† ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ + + - - - ACTH unresponsiveness + + + ACTHไธๅฟœ็—‡ + Adrenocorticotropic hormone insensitivity Adrenocorticotropic hormone unresponsiveness + Adrenocorticotropin unresponsiveness ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ - - 238 - ๅˆฅๅใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจๅ‘ผใฐใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆˆ้•ท่ปŸ้ชจๅธฏ้–‰้Ž–ไปฅๅ‰ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ใใ‚‹็—…ใจๅ‘ผใ‚“ใงใ„ใ‚‹ใ€‚ใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใฏใ€้ชจ็Ÿณ็ฐๅŒ–้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธ‹่จ˜ใฎ็—‡็Šถใซใ‚ˆใ‚Šใ€็ฝนๆ‚ฃๆ‚ฃ่€…ใฎQOLใ‚’้‡ๅบฆใซ้šœๅฎณใ—ใ†ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณDๆฌ ไนๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจใฏ็•ฐใชใ‚Šใ€ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซใ‚ˆใ‚ŠๅฎŒๆฒปใ—ใชใ„ใ€‚ - 1200778 + + 238 + ๅˆฅๅใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจๅ‘ผใฐใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆˆ้•ท่ปŸ้ชจๅธฏ้–‰้Ž–ไปฅๅ‰ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ใใ‚‹็—…ใจๅ‘ผใ‚“ใงใ„ใ‚‹ใ€‚ใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใฏใ€้ชจ็Ÿณ็ฐๅŒ–้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธ‹่จ˜ใฎ็—‡็Šถใซใ‚ˆใ‚Šใ€็ฝนๆ‚ฃๆ‚ฃ่€…ใฎQOLใ‚’้‡ๅบฆใซ้šœๅฎณใ—ใ†ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณDๆฌ ไนๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจใฏ็•ฐใชใ‚Šใ€ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซใ‚ˆใ‚ŠๅฎŒๆฒปใ—ใชใ„ใ€‚ + NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia + ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†/ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ - - Vitamin D Resistant Rickets / Osteomalacia + + Vitamin D Resistant Rickets / Osteomalacia + ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ + ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ - - 238 - 1200779 - + + 238 + NANDO:1200779 + Vitamin D-resistant rickets + ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—… + - + + - ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—… - - 238 - 1200780 - + + 238 + NANDO:1200780 + Vitamin D-resistant osteomalacia + ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ + - + + ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ - - 239 - ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ใฏใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใ‚‚ใ„ใ„ใ€้บไผๆ€งใซๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใ‚’็คบใ™ใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD-1ฮฑๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ๏ผˆCYP27B1๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR 1๏ผ‰ใจใ€ใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ๏ผˆVDR๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type 2๏ผšVDDR 2๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 1200781 - Vitamin D-dependent rickets + + 239 + ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ใฏใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใ‚‚ใ„ใ„ใ€้บไผๆ€งใซๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใ‚’็คบใ™ใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD-1ฮฑๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ๏ผˆCYP27B1๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR 1๏ผ‰ใจใ€ใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ๏ผˆVDR๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type 2๏ผšVDDR 2๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200781 + Vitamin D-dependent Rickets / Osteomalacia + ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ†/ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ - - Vitamin D-dependent Rickets / Osteomalacia + Vitamin D-dependent osteomalacia - + ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ - - 239 - 1200782 - + + 239 + NANDO:1200782 + Vitamin D-dependent rickets, type 1 + ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ—ใ‚‡ใ†1ใŒใŸ ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹ - + + VDDR 1 ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹ - - 239 - 1200783 - + + 239 + NANDO:1200783 + Vitamin D-dependent rickets, type 2 + ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ—ใ‚‡ใ†2ใŒใŸ ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹ - + + VDDR 2 ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹ - - 240 - ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใซไปฃ่กจใจใ•ใ‚Œใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃ็พคใฏใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚Pheใฏๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใฎใฒใจใคใงใ€ๆญฃๅธธใช่›‹็™ฝๅˆๆˆใ‚’ๅ–ถใ‚€ใŸใ‚ใซใฏไฝ“ๅค–ใ‹ใ‚‰ๆ‘‚ๅ–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ“ใฎ้ฃŸไบ‹ไธญใฎPheใฏ่›‹็™ฝๅˆๆˆใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ไปฅๅค–ใฏใ€ไธปใซPheๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใซใ‚ˆใ‚Šใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ•ใ‚ŒTyrไปฃ่ฌ็ตŒ่ทฏใงๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚Pheๆฐด้…ธๅŒ–ๅๅฟœใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใ€PheใŒ่“„็ฉใ—่ก€ไธญPheๅ€คใŒไธŠๆ˜‡ใ—ใ€ๅฐฟไธญใซใฏPheใฎใปใ‹ใใฎไปฃ่ฌ็”ฃ็‰ฉใฎใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใŒๅคง้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰PKUใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚้Žๅ‰ฐใฎPheใจใจใ‚‚ใซใ“ใ‚Œใ‚‰ใฎไปฃ่ฌ็”ฃ็‰ฉใฏๆญฃๅธธใฎไปฃ่ฌใ‚’้˜ปๅฎณใ—ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใงใฏ่„ณๆง‹็ฏ‰้šœๅฎณใซใ‚ˆใ‚‹็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไปฃ่กจใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ใŒใ€ๆˆไบบใซใŠใ„ใฆใ‚‚ใ•ใพใ–ใพใช็ฒพ็ฅž็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ—ใŸใ‚Šใ€้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใฎๆˆๅ› ใจใชใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200784 - + + 240 + ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใซไปฃ่กจใจใ•ใ‚Œใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃ็พคใฏใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚Pheใฏๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใฎใฒใจใคใงใ€ๆญฃๅธธใช่›‹็™ฝๅˆๆˆใ‚’ๅ–ถใ‚€ใŸใ‚ใซใฏไฝ“ๅค–ใ‹ใ‚‰ๆ‘‚ๅ–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ“ใฎ้ฃŸไบ‹ไธญใฎPheใฏ่›‹็™ฝๅˆๆˆใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ไปฅๅค–ใฏใ€ไธปใซPheๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใซใ‚ˆใ‚Šใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ•ใ‚ŒTyrไปฃ่ฌ็ตŒ่ทฏใงๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚Pheๆฐด้…ธๅŒ–ๅๅฟœใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใ€PheใŒ่“„็ฉใ—่ก€ไธญPheๅ€คใŒไธŠๆ˜‡ใ—ใ€ๅฐฟไธญใซใฏPheใฎใปใ‹ใใฎไปฃ่ฌ็”ฃ็‰ฉใฎใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใŒๅคง้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰PKUใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚้Žๅ‰ฐใฎPheใจใจใ‚‚ใซใ“ใ‚Œใ‚‰ใฎไปฃ่ฌ็”ฃ็‰ฉใฏๆญฃๅธธใฎไปฃ่ฌใ‚’้˜ปๅฎณใ—ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใงใฏ่„ณๆง‹็ฏ‰้šœๅฎณใซใ‚ˆใ‚‹็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไปฃ่กจใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ใŒใ€ๆˆไบบใซใŠใ„ใฆใ‚‚ใ•ใพใ–ใพใช็ฒพ็ฅž็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ—ใŸใ‚Šใ€้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใฎๆˆๅ› ใจใชใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200784 + Phenylketonuria + ใตใ‡ใซใ‚‹ใ‘ใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡ + - + + PKU ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡ - - 240 - 1200785 - - PAHๆฌ ๆ็—‡ - Phenylalanine Hydroxylase Deficiency + + 240 + NANDO:1200785 + + Phenylalanine hydroxylase deficiency + ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + - + + PAHๆฌ ๆ็—‡ - PAHๆฌ ๆ็—‡ + ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 240 - 1200786 - + + 240 + NANDO:1200786 + BH4ๆฌ ๆ็—‡ Tetrahydrobiopterin deficiency + ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - + + ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ + BH4ๆฌ ๆ็—‡ - - 240 - 1200787 - + + 240 + NANDO:1200787 + BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡ - Tetrahydrobiopterin responsive hyperphenylalaninemia + Tetrahydrobiopterin-responsive hyperphenylalaninemia + ใณใƒผใˆใ„ใก4ใฏใ‚“ใฎใ†ใ›ใ„ใ“ใ†ใดใƒผใˆใ„ใกใ„ใƒผใ‘ใฃใ—ใ‚‡ใ† - - BH4- responsive hyperphenylalaninemia + + BH4-responsive hyperphenylalaninemia BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ + Tetrahydrobiopterin-responsive hyperphenylalaninaemia + BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡ - - 241 - ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200788 - - Hypertyrosinemia type I + + 241 + ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200788 + + Tyrosinemia type 1 + ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ‘ใŒใŸ ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹ + - - - Tyrosinemia type 1 + + + Tyrosinaemia type 1 ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹ - - 242 - ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200789 - - Hypertyrosinemia type II + + 242 + ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200789 + + Tyrosinemia type 2 + ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ’ใŒใŸ ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹ + - - - Tyrosinemia type 2 + + + Tyrosinaemia type 2 ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹ - - 243 - ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200790 - - Hypertyrosinemia type III + + 243 + ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200790 + + Tyrosinemia type 3 + ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ“ใŒใŸ ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹ + - - - High tyrosinemia - Tyrosinemia type 3 + + + Tyrosinaemia type 3 ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹ - - 244 - ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡๏ผˆMSUD๏ผ‰ใฏๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธ๏ผˆBCAA๏ผšใƒใƒชใƒณใ€ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณ๏ผ‰็”ฑๆฅใฎๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ๏ผˆBCKA๏ผ‰ใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎ้šœๅฎณใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใฎๆ€ฅๆ€งๆœŸใงใฏๅ…ƒๆฐ—ใŒใชใ„ใ€ๅ“บไนณๅŠ›ไฝŽไธ‹ใ€ไธๆฉŸๅซŒใ€ๅ˜”ๅใชใฉใง็™บ็—‡ใ™ใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“ใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅพŒๅผ“ๅๅผตใชใฉใŒๅ‡บ็พใ—ใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจๆญปไบกใ™ใ‚‹ใ‹้‡็ฏคใช็ฅž็ตŒๅพŒ้บ็—‡ใ‚’ใฎใ“ใ™ใ€‚ๆ…ขๆ€ง็—‡็Šถใจใ—ใฆใฏ็™บ้”้šœๅฎณใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅคฑ่ชฟ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉๅ…จใฆใฎๆ‚ฃ่€…ใฏใ“ใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใซใ‚ˆใฃใฆ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใ‚ใŒๅ›ฝใงใฎ้ ปๅบฆใฏๅ‡บ็”Ÿ็ด„50ไธ‡ไบบใซ๏ผ‘ไบบใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200791 - + + 244 + ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡๏ผˆMSUD๏ผ‰ใฏๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธ๏ผˆBCAA๏ผšใƒใƒชใƒณใ€ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณ๏ผ‰็”ฑๆฅใฎๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ๏ผˆBCKA๏ผ‰ใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎ้šœๅฎณใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใฎๆ€ฅๆ€งๆœŸใงใฏๅ…ƒๆฐ—ใŒใชใ„ใ€ๅ“บไนณๅŠ›ไฝŽไธ‹ใ€ไธๆฉŸๅซŒใ€ๅ˜”ๅใชใฉใง็™บ็—‡ใ™ใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“ใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅพŒๅผ“ๅๅผตใชใฉใŒๅ‡บ็พใ—ใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจๆญปไบกใ™ใ‚‹ใ‹้‡็ฏคใช็ฅž็ตŒๅพŒ้บ็—‡ใ‚’ใฎใ“ใ™ใ€‚ๆ…ขๆ€ง็—‡็Šถใจใ—ใฆใฏ็™บ้”้šœๅฎณใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅคฑ่ชฟ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉๅ…จใฆใฎๆ‚ฃ่€…ใฏใ“ใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใซใ‚ˆใฃใฆ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใ‚ใŒๅ›ฝใงใฎ้ ปๅบฆใฏๅ‡บ็”Ÿ็ด„50ไธ‡ไบบใซ๏ผ‘ไบบใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200791 + Maple syrup urine disease + ใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ† ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + - + + MSUD ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ - - 245 - ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡๏ผˆPA๏ผ‰ใฏใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ - 1200792 - + + 245 + ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡๏ผˆPA๏ผ‰ใฏใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:1200792 + Propionic acidemia + ใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + - - + + + PA + Propionic acidaemia ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ - - 246 - ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ใฏใ€ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA(MM-CoA)ใƒ ใ‚ฟใƒผใ‚ผ(EC5.4.99.2;MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA ใฎไปฃ่ฌใซ้šœๅฎณใ‚’ๆฅใ™ๅŽŸๅ› ใจใ—ใฆใฏใ€(๏ผ‘)MCM ๆฌ ๆ็—‡(MIM#251000)ใจใ€(๏ผ’)ใƒ“ใ‚ฟใƒŸใƒณB12ใฎๆ‘‚ๅ–ใƒป่…ธ็ฎกใงใฎๅธๅŽใƒป่ผธ้€ใ‹ใ‚‰ใ€MCMใฎๆดปๆ€งๅž‹่ฃœ้…ต็ด ใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณ(ใ‚ณใƒใƒžใƒŸใƒ‰)ๅˆๆˆใพใงใฎ่ซธๆฎต้šŽใซใŠใ‘ใ‚‹้šœๅฎณใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธใฏ็›ธ่ฃœๆ€ง่งฃๆžใ‹ใ‚‰cblA๏ฝžcblGใซๅˆ†้กžใ•ใ‚Œใ€cblAใ€cblBใฏใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณๅˆๆˆใ ใ‘ใซ้šœๅฎณใ‚’ๆฅใ—ใฆMCMๆฌ ๆ็—‡ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ใƒกใƒใ‚ชใƒ‹ใƒณๅˆๆˆ้…ต็ด ใซๅฟ…่ฆใชใƒกใƒใƒซใ‚ณใƒใƒฉใƒŸใƒณใฎๅˆๆˆใซๅ…ฑ้€šใ™ใ‚‹็ตŒ่ทฏใฎ้šœๅฎณใงใ‚ใ‚‹cblCใ€cblEใ€cblFใ€cblGใฏใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ„ใ€่‡จๅบŠๅƒใ‚’็•ฐใซใ™ใ‚‹ใ€‚cblDใฏใ€่ฒฌไปปๅˆ†ๅญMMADHCใŒcblCใฎ่ฒฌไปปๅˆ†ๅญMMACHCใซใ‚ˆใ‚‹ไฟฎ้ฃพใ‚’ๅ—ใ‘ใŸใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌไธญ้–“ไฝ“ใฎ็ดฐ่ƒžๅ†…ๅฑ€ๅœจ๏ผˆใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅˆใฏ็ดฐ่ƒž่ณช๏ผ‰ใฎๆŒฏใ‚Šๅˆ†ใ‘ใ‚’ๆ‹…ใฃใฆใŠใ‚Šใ€้บไผๅญๅค‰็•ฐใฎไฝ็ฝฎใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ๅ˜็‹ฌๅž‹๏ผใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ๅ˜็‹ฌๅž‹๏ผๆททๅˆๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ๆœฌ่จบๆ–ญๅŸบๆบ–ใงใฏใ€MCMๆฌ ๆ็—‡ใ€cblAใ€cblBใ€ๅŠใณcblDใฎใ†ใกใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„็—…ๅž‹ใ‚’ๅฏพ่ฑกใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200793 - + + 246 + ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ใฏใ€ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA(MM-CoA)ใƒ ใ‚ฟใƒผใ‚ผ(EC5.4.99.2;MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA ใฎไปฃ่ฌใซ้šœๅฎณใ‚’ๆฅใ™ๅŽŸๅ› ใจใ—ใฆใฏใ€(๏ผ‘)MCM ๆฌ ๆ็—‡(MIM#251000)ใจใ€(๏ผ’)ใƒ“ใ‚ฟใƒŸใƒณB12ใฎๆ‘‚ๅ–ใƒป่…ธ็ฎกใงใฎๅธๅŽใƒป่ผธ้€ใ‹ใ‚‰ใ€MCMใฎๆดปๆ€งๅž‹่ฃœ้…ต็ด ใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณ(ใ‚ณใƒใƒžใƒŸใƒ‰)ๅˆๆˆใพใงใฎ่ซธๆฎต้šŽใซใŠใ‘ใ‚‹้šœๅฎณใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธใฏ็›ธ่ฃœๆ€ง่งฃๆžใ‹ใ‚‰cblA๏ฝžcblGใซๅˆ†้กžใ•ใ‚Œใ€cblAใ€cblBใฏใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณๅˆๆˆใ ใ‘ใซ้šœๅฎณใ‚’ๆฅใ—ใฆMCMๆฌ ๆ็—‡ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ใƒกใƒใ‚ชใƒ‹ใƒณๅˆๆˆ้…ต็ด ใซๅฟ…่ฆใชใƒกใƒใƒซใ‚ณใƒใƒฉใƒŸใƒณใฎๅˆๆˆใซๅ…ฑ้€šใ™ใ‚‹็ตŒ่ทฏใฎ้šœๅฎณใงใ‚ใ‚‹cblCใ€cblEใ€cblFใ€cblGใฏใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ„ใ€่‡จๅบŠๅƒใ‚’็•ฐใซใ™ใ‚‹ใ€‚cblDใฏใ€่ฒฌไปปๅˆ†ๅญMMADHCใŒcblCใฎ่ฒฌไปปๅˆ†ๅญMMACHCใซใ‚ˆใ‚‹ไฟฎ้ฃพใ‚’ๅ—ใ‘ใŸใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌไธญ้–“ไฝ“ใฎ็ดฐ่ƒžๅ†…ๅฑ€ๅœจ๏ผˆใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅˆใฏ็ดฐ่ƒž่ณช๏ผ‰ใฎๆŒฏใ‚Šๅˆ†ใ‘ใ‚’ๆ‹…ใฃใฆใŠใ‚Šใ€้บไผๅญๅค‰็•ฐใฎไฝ็ฝฎใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ๅ˜็‹ฌๅž‹๏ผใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ๅ˜็‹ฌๅž‹๏ผๆททๅˆๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ๆœฌ่จบๆ–ญๅŸบๆบ–ใงใฏใ€MCMๆฌ ๆ็—‡ใ€cblAใ€cblBใ€ๅŠใณcblDใฎใ†ใกใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„็—…ๅž‹ใ‚’ๅฏพ่ฑกใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200793 + Methylmalonic acidemia + ใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + - - + + + MMA + Methylmalonic acidaemia ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ - - 246 - 1200794 - - MCMๆฌ ๆ็—‡ + + 246 + NANDO:1200794 + Methylmalonyl-Coenzyme A mutase deficiency + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†๏ผˆใˆใ‚€ใ—ใƒผใˆใ‚€ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†๏ผ‰ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ๏ผˆMCMๆฌ ๆ็—‡๏ผ‰ - + - MCMๆฌ ๆ็—‡ - - - 246 - 1200795 - - Methylmalonic acidemia type cb1A - cb1A + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ๏ผˆMCMๆฌ ๆ็—‡๏ผ‰ + + + 246 + NANDO:1200795 + + Methylmalonic acidemia cblA type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA + + - - - cb1A - - - 246 - 1200796 - - Methylmalonic acidemia type cb1B - cb1B + + + Methylmalonic acidaemia cblA type + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA + + + 246 + NANDO:1200796 + + Methylmalonic acidemia cblB type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใณใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB + + - - - cb1B - - - 246 - 1200797 - - Methylmalonic acidemia type cb1D - cb1D + + + Methylmalonic acidaemia cblB type + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB + + + 246 + NANDO:1200797 + + Methylmalonic acidemia CblD type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใงใƒใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD + + - - - cb1D - - - 247 - ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ใฏใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€Œ่ถณใฎ่’ธใ‚ŒใŸใ‚ˆใ†ใชใ€ใจใ‹ใ€Œๆฑ—่‡ญใ„ใ€ใจๅฝขๅฎนใ•ใ‚Œใ‚‹็‰นๅพด็š„ใชไฝ“่‡ญใ‚’ๅ‘ˆใ—ใ€ๅคšใใฏๆ–ฐ็”Ÿๅ…ๆœŸใซๅ“บไนณไธ่‰ฏใ‚„ๅ˜”ๅใ€ๆ„่ญ˜้šœๅฎณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅผทใ„ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€ไฝŽ่ก€็ณ–ใชใฉใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„50ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ฃŸไบ‹็™‚ๆณ•ใ‚„่–ฌ็‰ฉ็™‚ๆณ•ใง็—‡็Šถใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใงใใ‚ŒใฐไบˆๅพŒ่‰ฏๅฅฝใ ใŒใ€ๆ€ฅๆ€งๆœŸใฎๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ - 1200798 - + + + Methylmalonic acidaemia CblD type + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD + + + 247 + ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ใฏใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€Œ่ถณใฎ่’ธใ‚ŒใŸใ‚ˆใ†ใชใ€ใจใ‹ใ€Œๆฑ—่‡ญใ„ใ€ใจๅฝขๅฎนใ•ใ‚Œใ‚‹็‰นๅพด็š„ใชไฝ“่‡ญใ‚’ๅ‘ˆใ—ใ€ๅคšใใฏๆ–ฐ็”Ÿๅ…ๆœŸใซๅ“บไนณไธ่‰ฏใ‚„ๅ˜”ๅใ€ๆ„่ญ˜้šœๅฎณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅผทใ„ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€ไฝŽ่ก€็ณ–ใชใฉใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„50ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ฃŸไบ‹็™‚ๆณ•ใ‚„่–ฌ็‰ฉ็™‚ๆณ•ใง็—‡็Šถใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใงใใ‚ŒใฐไบˆๅพŒ่‰ฏๅฅฝใ ใŒใ€ๆ€ฅๆ€งๆœŸใฎๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ + NANDO:1200798 + Isovaleric acidemia + ใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ + - - + + + Isovaleric acidaemia ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ - - 248 - ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ๆฌ ๆ็—‡็—‡ๅ€™็พค๏ผˆglucose transporter type 1 deficiency syndrome๏ผšGLUT-1 DS๏ผ‰ใฏใ€่„ณใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚นใŒไธญๆžข็ฅž็ตŒ็ณปใซๅ–ใ‚Š่พผใพใ‚Œใชใ„ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ไปฃ่ฌๆ€ง่„ณ็—‡ใงใ€1991ๅนดใซDe Vivoใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่ก€็ณ–ใฏๆญฃๅธธๅ€คใงใ‚ใ‚‹ใŒ้ซ„ๆถฒ็ณ–ใŒไฝŽๅ€คใจใชใ‚‹ใ“ใจใ‚ˆใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅ†…ใฎไฝŽ่ก€็ณ–็Šถๆ…‹ใ‚’็”Ÿใ˜ใ€ๆง˜ใ€…ใชไธญๆžข็ฅž็ตŒ็ณปๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™ใ€‚ไธญใงใ‚‚้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟ็ญ‰ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚GLUT-1DSใฏใ‚ฑใƒˆใƒณ้ฃŸใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๆœ‰ๅŠนใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ—ฉๆœŸ็™บ่ฆ‹ใƒปๆฒป็™‚ใซใ‚ˆใ‚ŠไบˆๅพŒใ‚’ๆ”นๅ–„ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ - 1200799 - - Glucose transporter type 1 deficiency + + 248 + ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ๆฌ ๆ็—‡็—‡ๅ€™็พค๏ผˆglucose transporter type 1 deficiency syndrome๏ผšGLUT-1 DS๏ผ‰ใฏใ€่„ณใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚นใŒไธญๆžข็ฅž็ตŒ็ณปใซๅ–ใ‚Š่พผใพใ‚Œใชใ„ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ไปฃ่ฌๆ€ง่„ณ็—‡ใงใ€1991ๅนดใซDe Vivoใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่ก€็ณ–ใฏๆญฃๅธธๅ€คใงใ‚ใ‚‹ใŒ้ซ„ๆถฒ็ณ–ใŒไฝŽๅ€คใจใชใ‚‹ใ“ใจใ‚ˆใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅ†…ใฎไฝŽ่ก€็ณ–็Šถๆ…‹ใ‚’็”Ÿใ˜ใ€ๆง˜ใ€…ใชไธญๆžข็ฅž็ตŒ็ณปๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™ใ€‚ไธญใงใ‚‚้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟ็ญ‰ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚GLUT-1DSใฏใ‚ฑใƒˆใƒณ้ฃŸใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๆœ‰ๅŠนใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ—ฉๆœŸ็™บ่ฆ‹ใƒปๆฒป็™‚ใซใ‚ˆใ‚ŠไบˆๅพŒใ‚’ๆ”นๅ–„ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ + NANDO:1200799 + + Glucose transporter 1 deficiency + ใใ‚‹ใ“ใƒผใ™ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡ + - + + GLUT-1 DS Glut1 deficiency ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡ - - 249 - ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ๆฅใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ๏ผ“๏ฝž36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„21ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ—ฆ็™บ็—‡ใ™ใ‚‹ใจใปใจใ‚“ใฉใŒ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใ€ๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ - 1200800 - - Glutaric Acidemia type 1 + + 249 + ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ๆฅใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ๏ผ“๏ฝž36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„21ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ—ฆ็™บ็—‡ใ™ใ‚‹ใจใปใจใ‚“ใฉใŒ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใ€ๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ + NANDO:1200800 + + Glutaric acidemia type 1 + ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ + - + + GA1 + Glutaric acidaemia type 1 + Glutaryl-CoA dehydrogenase deficiency ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ - - 250 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ๏ผˆelectron transfer flavoprotein๏ผšETF๏ผ‰ๅŠใณETF่„ฑๆฐด็ด ้…ต็ด ๏ผˆETF dehydrogenase๏ผšETFDH๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ETFๅŠใณETFDHใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซใŠใ‘ใ‚‹ฮฒ้…ธๅŒ–็ตŒ่ทฏใ‚’ๅซใ‚€่ค‡ๆ•ฐใฎ่„ฑๆฐด็ด ้…ต็ด ๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹้›ปๅญใ‚’้›ปๅญไผ้”็ณปใซไพ›็ตฆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจ่จ˜่ผ‰ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„ๅคšๅšข่ƒžๆ€งๅšข่ƒž่…Žใ‚’ๅˆไฝตใ—ใ€ๆฅตใ‚ใฆ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—ๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็™บ็—‡ใ—็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎใƒ‘ใ‚คใƒญใƒƒใƒˆ็ ”็ฉถใฎ็ตๆžœใซใ‚ˆใ‚‹ใจ็ด„31ไธ‡ไบบใซ๏ผ‘ไบบใฎ็™บ่ฆ‹้ ปๅบฆใงใ‚ใ‚‹ใ€‚ - 1200801 - - Glutaric Acidemia type 2 + + 250 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ๏ผˆelectron transfer flavoprotein๏ผšETF๏ผ‰ๅŠใณETF่„ฑๆฐด็ด ้…ต็ด ๏ผˆETF dehydrogenase๏ผšETFDH๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ETFๅŠใณETFDHใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซใŠใ‘ใ‚‹ฮฒ้…ธๅŒ–็ตŒ่ทฏใ‚’ๅซใ‚€่ค‡ๆ•ฐใฎ่„ฑๆฐด็ด ้…ต็ด ๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹้›ปๅญใ‚’้›ปๅญไผ้”็ณปใซไพ›็ตฆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจ่จ˜่ผ‰ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„ๅคšๅšข่ƒžๆ€งๅšข่ƒž่…Žใ‚’ๅˆไฝตใ—ใ€ๆฅตใ‚ใฆ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—ๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็™บ็—‡ใ—็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎใƒ‘ใ‚คใƒญใƒƒใƒˆ็ ”็ฉถใฎ็ตๆžœใซใ‚ˆใ‚‹ใจ็ด„31ไธ‡ไบบใซ๏ผ‘ไบบใฎ็™บ่ฆ‹้ ปๅบฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200801 + + Glutaric acidemia type 2 + ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†2ใŒใŸ ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹ + - + + GA2 + Glutaric acidaemia type 2 + Multiple acyl-CoA dehydrogenase deficiency ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹ - - 251 - ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฏไธปใซ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ๅฐฟ็ด ใ‚’็”ฃ็”Ÿใ™ใ‚‹็ตŒ่ทฏใงใ‚ใ‚Šใ€ใ‚ชใƒซใƒ‹ใƒใƒณใ€ใ‚ทใƒˆใƒซใƒชใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใฎ๏ผ”ใคใฎใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฏๅฐฟ็ด ๅˆๆˆ็ตŒ่ทฏใฎไปฃ่ฌ็ณปใซๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใฎ็—‡็Šถใชใฉใง็™บ็—‡ใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใ‚’ใ•ใ™ใ€‚Nใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ - 1200802 - + + 251 + ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฏไธปใซ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ๅฐฟ็ด ใ‚’็”ฃ็”Ÿใ™ใ‚‹็ตŒ่ทฏใงใ‚ใ‚Šใ€ใ‚ชใƒซใƒ‹ใƒใƒณใ€ใ‚ทใƒˆใƒซใƒชใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใฎ๏ผ”ใคใฎใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฏๅฐฟ็ด ๅˆๆˆ็ตŒ่ทฏใฎไปฃ่ฌ็ณปใซๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใฎ็—‡็Šถใชใฉใง็™บ็—‡ใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใ‚’ใ•ใ™ใ€‚Nใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:1200802 + Urea cycle disorder + ใซใ‚‡ใ†ใใ•ใ„ใใ‚‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ - + - ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ - - 251 - 1200803 - + + 251 + NANDO:1200803 + CPSIๆฌ ๆ็—‡ Carbamoyl phosphate synthetase I deficiency + ใ—ใƒผใดใƒผใˆใ™ใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ CPSIๆฌ ๆ็—‡ - - 251 - 1200804 - + + 251 + NANDO:1200804 + OTCๆฌ ๆ็—‡ Ornithine transcarbamylase deficiency + ใŠใƒผใฆใƒใƒผใ—ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ OTCๆฌ ๆ็—‡ - - 251 - 1200805 - - classic citrullinemia + + 251 + NANDO:1200805 + + Classic citrullinemia + ใ“ใฆใ‚“ใŒใŸใ—ใจใ‚‹ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ - + Citrullinemia type I + Classic citrullinaemia โ… ๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ + โ…ขๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ - - 251 - 1200806 - + + 251 + NANDO:1200806 + Argininosuccinic aciduria + ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + - + ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ - - 251 - 1200807 - + + 251 + NANDO:1200807 + Argininemia + ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ† ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ - + + Argininaemia + ้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ - - 251 - 1200808 - + + 251 + NANDO:1200808 + NAGS deficiency NAGSๆฌ ๆ็—‡ + ใˆใฌใˆใƒผใ˜ใƒผใˆใ™ๆฌ ๆ็—‡ - + + N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ NAGSๆฌ ๆ็—‡ - - 252 - ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€่›‹็™ฝใฎไธ€ใคใงใ‚ใ‚‹y+LAT-1๏ผˆy+L amino acid transporter-1๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใฃใฆใ€ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€็•ฐๅธธ๏ผˆๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใชใฉใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ๅˆ็™บๆ™‚ใฎไธปใช่‡จๅบŠๆ‰€่ฆ‹ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่›‹็™ฝๅซŒใ„ใ€ๆˆ้•ท้šœๅฎณใ€ๅ˜”ๅใ€่‚่…ซๅคงใชใฉใงใ‚ใ‚‹ใŒๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚ๆœฌ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ—ใ€่ฟ‘ๅนดใฎๆœฌ้‚ฆๆ‚ฃ่€…ๆ•ฐใฏ30๏ฝž40ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚LPIใฎ่ฒฌไปป้บไผๅญSLC7A7๏ผˆSolute carrier family7, member7๏ผ‰ใฏy+LAT-1ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ€‚ - 1200809 - + + 252 + ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€่›‹็™ฝใฎไธ€ใคใงใ‚ใ‚‹y+LAT-1๏ผˆy+L amino acid transporter-1๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใฃใฆใ€ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€็•ฐๅธธ๏ผˆๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใชใฉใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ๅˆ็™บๆ™‚ใฎไธปใช่‡จๅบŠๆ‰€่ฆ‹ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่›‹็™ฝๅซŒใ„ใ€ๆˆ้•ท้šœๅฎณใ€ๅ˜”ๅใ€่‚่…ซๅคงใชใฉใงใ‚ใ‚‹ใŒๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚ๆœฌ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ—ใ€่ฟ‘ๅนดใฎๆœฌ้‚ฆๆ‚ฃ่€…ๆ•ฐใฏ30๏ฝž40ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚LPIใฎ่ฒฌไปป้บไผๅญSLC7A7๏ผˆSolute carrier family7, member7๏ผ‰ใฏy+LAT-1ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:1200809 + Lysinuric protein intolerance + ใ‚Šใ˜ใ‚“ใซใ‚‡ใ†ใ›ใ„ใŸใ‚“ใฑใใตใŸใ„ใ—ใ‚‡ใ† ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡ + - + ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡ - - 253 - ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹proton-coupled folate transporter๏ผˆPCFT๏ผ‰ใฎๆฉŸ่ƒฝๅ–ชๅคฑใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใ‹ใ‚‰ใฎ่‘‰้…ธๅธๅŽไธๅ…จใจ่„ˆ็ตก่†œใซใŠใ‘ใ‚‹ๅ–ใ‚Š่พผใฟ้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…็–ซไธๅ…จใ€้ทๅปถๆ€งไธ‹็—ขใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็—™ๆ”ฃใชใฉใ‚’ๆฅใ™ใ€‚ๅคง่„ณๅŸบๅบ•ๆ ธใซ็Ÿณ็ฐๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 1200810 - + + 253 + ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹proton-coupled folate transporter๏ผˆPCFT๏ผ‰ใฎๆฉŸ่ƒฝๅ–ชๅคฑใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใ‹ใ‚‰ใฎ่‘‰้…ธๅธๅŽไธๅ…จใจ่„ˆ็ตก่†œใซใŠใ‘ใ‚‹ๅ–ใ‚Š่พผใฟ้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…็–ซไธๅ…จใ€้ทๅปถๆ€งไธ‹็—ขใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็—™ๆ”ฃใชใฉใ‚’ๆฅใ™ใ€‚ๅคง่„ณๅŸบๅบ•ๆ ธใซ็Ÿณ็ฐๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:1200810 + Hereditary Folate Malabsorption - ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ˆใ†ใ•ใ‚“ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ + - + Congenital folate malabsorption - ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ + ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ - - 254 - ใƒ˜ใƒ ไปฃ่ฌ็ณปใซ้–ขใ‚ใ‚‹๏ผ˜ใคใฎ้…ต็ด ใฎใ„ใšใ‚Œใ‹ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใƒใƒซใƒ•ใ‚ฃใƒชใƒณไฝ“ใ‚ใ‚‹ใ„ใฏใใฎๅ‰้ง†ไฝ“ใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ™ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…ๆ…‹ใฎๅคง้ƒจๅˆ†ใŒไธๆ˜Žใงใ‚ใ‚Šใ€ๆ นๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ๅ„็—…ๅž‹้–“ใง็—‡็Šถใซใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใŒใ‚ใ‚Šใ€่จบๆ–ญใŒ้žๅธธใซ้›ฃใ—ใใ€็ขบๅฎš่จบๆ–ญใซใฏ้บไผๅญ่จบๆ–ญใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 1200811 + + 254 + ใƒ˜ใƒ ไปฃ่ฌ็ณปใซ้–ขใ‚ใ‚‹๏ผ˜ใคใฎ้…ต็ด ใฎใ„ใšใ‚Œใ‹ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใƒใƒซใƒ•ใ‚ฃใƒชใƒณไฝ“ใ‚ใ‚‹ใ„ใฏใใฎๅ‰้ง†ไฝ“ใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ™ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…ๆ…‹ใฎๅคง้ƒจๅˆ†ใŒไธๆ˜Žใงใ‚ใ‚Šใ€ๆ นๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ๅ„็—…ๅž‹้–“ใง็—‡็Šถใซใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใŒใ‚ใ‚Šใ€่จบๆ–ญใŒ้žๅธธใซ้›ฃใ—ใใ€็ขบๅฎš่จบๆ–ญใซใฏ้บไผๅญ่จบๆ–ญใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200811 Porphyria + ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - + ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200812 - + + 254 + NANDO:1200812 + Acute intermittent porphyria + ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ‘ใคใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + - + + AIP ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200813 - + + 254 + NANDO:1200813 + Hereditary coproporphyria + ใ„ใงใ‚“ใ›ใ„ใ“ใทใ‚ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + - + + HCP ้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200814 - + + 254 + NANDO:1200814 + Variegate porphyria + ใ„ใ‘ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + - + + VP ็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200815 - + + 254 + NANDO:1200815 + Erythropoietic protoporphyria + ใ›ใใŒใใ‚…ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + - + EPP ้ชจ้ซ„ๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ @@ -10954,114 +12976,126 @@ ่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200816 - + + 254 + NANDO:1200816 + Porphyria cutanea tarda + ใฐใ‚“ใฏใคใ›ใ„ใฒใตใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - + - - + + PCT ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200817 - + + 254 + NANDO:1200817 + Congenital erythropoietic porphyria + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - + - - + + CEP + ้บไผๆ€ง่ตค่Šฝ็ƒๅข—ๆฎ–ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200818 - + + 254 + NANDO:1200818 + X-linked dominant protoporphyria X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚†ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + - + + CLDP X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 254 - 1200819 - + + 254 + NANDO:1200819 + Hepatoerythropoietic porphyria + ใ‹ใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + - + + HEP ่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 255 - ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ™ใ‚‹๏ผ”็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใจใ—ใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPCC๏ผ‰ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ใ€ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆACC๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธใงใฏใ“ใ‚Œใ‚‰ใฎๆดปๆ€งใŒๅŒๆ™‚ใซไฝŽไธ‹ใ™ใ‚‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใจใชใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใจใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใฎ๏ผ’็จฎ้กžใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใงใฏไธ€่ˆฌใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸๆ—ฉๆœŸใซๅ˜”ๅใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใง็™บ็—‡ใ—ใ€ใ‚„ใŒใฆ้›ฃๆฒปๆ€งๆนฟ็–นใ€็—™ๆ”ฃใ‚’ๆฅใ™ใ€‚ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไนณๅ…ๆœŸไปฅ้™ใซใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้›ฃๆฒปๆ€งๆนฟ็–นๆง˜็šฎ่†š็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ใจใ‚‚ใซ่–ฌ็†้‡ใฎใƒ“ใ‚ชใƒใƒณ๏ผˆ10๏ฝž100mg/ๆ—ฅ๏ผ‰ใฎ็ตŒๅฃๆŠ•ไธŽใซใ‚ˆใ‚Š่‡จๅบŠ็š„ใ€็”ŸๅŒ–ๅญฆ็š„ใซใ‚‚่ปฝๅฟซใ™ใ‚‹ใ€‚ - 1200820 - - Multiple carboxylase deficiency + + 255 + ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ™ใ‚‹๏ผ”็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใจใ—ใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPCC๏ผ‰ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ใ€ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆACC๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธใงใฏใ“ใ‚Œใ‚‰ใฎๆดปๆ€งใŒๅŒๆ™‚ใซไฝŽไธ‹ใ™ใ‚‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใจใชใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใจใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใฎ๏ผ’็จฎ้กžใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใงใฏไธ€่ˆฌใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸๆ—ฉๆœŸใซๅ˜”ๅใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใง็™บ็—‡ใ—ใ€ใ‚„ใŒใฆ้›ฃๆฒปๆ€งๆนฟ็–นใ€็—™ๆ”ฃใ‚’ๆฅใ™ใ€‚ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไนณๅ…ๆœŸไปฅ้™ใซใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้›ฃๆฒปๆ€งๆนฟ็–นๆง˜็šฎ่†š็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ใจใ‚‚ใซ่–ฌ็†้‡ใฎใƒ“ใ‚ชใƒใƒณ๏ผˆ10๏ฝž100mg/ๆ—ฅ๏ผ‰ใฎ็ตŒๅฃๆŠ•ไธŽใซใ‚ˆใ‚Š่‡จๅบŠ็š„ใ€็”ŸๅŒ–ๅญฆ็š„ใซใ‚‚่ปฝๅฟซใ™ใ‚‹ใ€‚ + NANDO:1200820 + + multiple carboxylase deficiency + ใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + - - + ่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 255 - 1200821 - + + 255 + NANDO:1200821 + Holocarboxylase synthetase deficiency + ใปใ‚ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - + HCSๆฌ ๆ็—‡ ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - - 255 - 1200822 - + + 255 + NANDO:1200822 + Biotinidase deficiency + ใณใŠใกใซใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - + ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - - 256 - ็ณ–ๅŽŸ็—…ใฏใ€ๅ…ˆๅคฉ็š„ใชใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ๅคงใใ่‚ๅž‹ใ€็ญ‹ๅž‹ใฎ็—…ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹ใงใฏไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹ใงใฏๆ€ฅๆ€ง็—‡็Šถใจใ—ใฆๆจช็ด‹็ญ‹่ž่งฃ็—‡ใ€ใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใชใฉใ‚’ๆฅใ—ใ€่…Žไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸ่€ๅนดๆœŸใงใฏ็ญ‹ๅŠ›ไฝŽไธ‹๏ผˆ้€ฒ่กŒๆ€ง๏ผ‰ใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…ใฎๅฅฝ็™บ็—…ๅž‹ใฏIIใ€IIIใ€Vใ€VIIๅž‹ใงใ€ๅ…จไฝ“ใฎ90๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎๅธŒใช็ญ‹ๅž‹็—…ๅž‹ใจใ—ใฆ0ๅž‹ใ€IVๅž‹ใ€IXๅž‹ใ€ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆPGK๏ผ‰ๆฌ ๆ็—‡ใ€Xๅž‹ใ€XIๅž‹ใ€XIIๅž‹ใ€XIIIๅž‹ใ€XIVๅž‹ใ€XVๅž‹ใŒใ‚ใ‚‹๏ผˆ็ญ‹ๅž‹็ณ–ๅŽŸ็—…ๅฏพๅฟœ่กจๅ‚็…ง๏ผ‰ใ€‚ - 1200823 - + + 256 + ็ณ–ๅŽŸ็—…ใฏใ€ๅ…ˆๅคฉ็š„ใชใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ๅคงใใ่‚ๅž‹ใ€็ญ‹ๅž‹ใฎ็—…ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹ใงใฏไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹ใงใฏๆ€ฅๆ€ง็—‡็Šถใจใ—ใฆๆจช็ด‹็ญ‹่ž่งฃ็—‡ใ€ใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใชใฉใ‚’ๆฅใ—ใ€่…Žไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸ่€ๅนดๆœŸใงใฏ็ญ‹ๅŠ›ไฝŽไธ‹๏ผˆ้€ฒ่กŒๆ€ง๏ผ‰ใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…ใฎๅฅฝ็™บ็—…ๅž‹ใฏIIใ€IIIใ€Vใ€VIIๅž‹ใงใ€ๅ…จไฝ“ใฎ90๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎๅธŒใช็ญ‹ๅž‹็—…ๅž‹ใจใ—ใฆ0ๅž‹ใ€IVๅž‹ใ€IXๅž‹ใ€ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆPGK๏ผ‰ๆฌ ๆ็—‡ใ€Xๅž‹ใ€XIๅž‹ใ€XIIๅž‹ใ€XIIIๅž‹ใ€XIVๅž‹ใ€XVๅž‹ใŒใ‚ใ‚‹๏ผˆ็ญ‹ๅž‹็ณ–ๅŽŸ็—…ๅฏพๅฟœ่กจๅ‚็…ง๏ผ‰ใ€‚ + NANDO:1200823 + Muscle Glycogen Storage Disease + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ† ็ญ‹ๅž‹็ณ–ๅŽŸ็—… - + Glycogen storage disease type VII Muscular glycogenosis Skeletal muscle glycogenosis @@ -11069,9573 +13103,11680 @@ ็ญ‹ๅž‹็ณ–ๅŽŸ็—… - - 256 - 1200824 - + + 256 + NANDO:1200824 + Glycogen storage diseases type 0 + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹ - + Glycogen synthase deficiency ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹ - - 256 - 1200825 - + + 256 + NANDO:1200825 + Glycogen storage diseases type II + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†2ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹ - + Pompe disease Pompe็—… + ใƒใƒณใƒš็—… ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹ - - 256 - 1200826 - + + 256 + NANDO:1200826 + Glycogen storage diseases type III + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹ - + Cori disease Cori็—… + ใ‚ณใƒผใƒชใƒผ็—… ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹ - - 256 - 1200827 - + + 256 + NANDO:1200827 + Glycogen storage diseases type IV + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + - + Andersen disease Andersen็—… + ใ‚ขใƒณใƒ€ใƒผใ‚นใƒณ็—… + ใ‚ขใƒณใƒ€ใƒผใ‚ฝใƒณ็—… ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ - - 256 - 1200828 - + + 256 + NANDO:1200828 + Glycogen storage diseases type V + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†5ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹ - + McArdle disease McArdle็—… + ใƒžใƒƒใ‚ซใƒผใƒ‰ใƒซ็—… ็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹ - - 256 - 1200829 - + + 256 + NANDO:1200829 + Glycogen storage diseases type VII + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†7ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹ - + Tarui disease Tarui็—… + ๅž‚ไบ•็—… ็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹ - - 256 - 1200830 - + + 256 + NANDO:1200830 + Glycogen storage diseases type IXd + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใงใƒใƒผใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹ - + ็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹ - - 256 - 1200831 - - PGKๆฌ ๆ็—‡ + + 256 + NANDO:1200831 + Phosphoglycerate kinase deficiency - + ใปใ™ใปใใ‚Šใ›ใ‚Šใ‚“ใ•ใ‚“ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - - - PGKๆฌ ๆ็—‡ - - - 256 - 1200832 - + + PGKๆฌ ๆ็—‡ + ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ + + + 256 + NANDO:1200832 + Glycogen storage diseases type X + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†10ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹ - + ็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹ - - 256 - 1200833 - + + 256 + NANDO:1200833 + Glycogen storage diseases type XI + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†11ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹ - + Kanno disease Kanno็—… - ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹ - - 256 - 1200834 - + + 256 + NANDO:1200834 + Glycogen storage diseases type XII + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†12ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹ - + ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹ - - 256 - 1200835 - + + 256 + NANDO:1200835 + Glycogen storage diseases type XIII + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†13ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹ - + ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹ - - 256 - 1200836 - + + 256 + NANDO:1200836 + Glycogen storage diseases type XIV + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†14ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹ + - + ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹ - - 256 - 1200837 - + + 256 + NANDO:1200837 + Glycogen storage diseases type XV + ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†15ใŒใŸ ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹ - + ็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹ - - 257 - ็ณ–ๅŽŸ็—…ใฏ็ณ–ไปฃ่ฌใฎ็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚็ณ–ใ‚’ใ‚จใƒใƒซใ‚ฎใƒผใจใ—ใฆ่“„็ฉใ™ใ‚‹ใŸใ‚ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใธใจๅค‰ๆ›ใ™ใ‚‹็ณปใ€ๅŠใณ่“„็ฉใ—ใŸใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ไปฃ่ฌใ™ใ‚‹็ณปใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š็ณ–ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚้šœๅฎณใ‚’ๅ—ใ‘ใŸ้…ต็ด ใฎ็™บ็พ้ƒจไฝใซใ‚ˆใ‚Š่‚ๅž‹ใƒป็ญ‹ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹็ณ–ๅŽŸ็—…ใซใฏIใ€IIIใ€IVใ€VIใ€IXๅž‹ใŒใ‚ใ‚Šใ€ไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ - 1200838 + + 257 + ็ณ–ๅŽŸ็—…ใฏ็ณ–ไปฃ่ฌใฎ็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚็ณ–ใ‚’ใ‚จใƒใƒซใ‚ฎใƒผใจใ—ใฆ่“„็ฉใ™ใ‚‹ใŸใ‚ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใธใจๅค‰ๆ›ใ™ใ‚‹็ณปใ€ๅŠใณ่“„็ฉใ—ใŸใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ไปฃ่ฌใ™ใ‚‹็ณปใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š็ณ–ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚้šœๅฎณใ‚’ๅ—ใ‘ใŸ้…ต็ด ใฎ็™บ็พ้ƒจไฝใซใ‚ˆใ‚Š่‚ๅž‹ใƒป็ญ‹ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹็ณ–ๅŽŸ็—…ใซใฏIใ€IIIใ€IVใ€VIใ€IXๅž‹ใŒใ‚ใ‚Šใ€ไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200838 Hepatic Glycogen Storage Disease + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ† ่‚ๅž‹็ณ–ๅŽŸ็—… - + Hepatic glycogenosis + ่‚ๅž‹็ณ–ๅŽŸ็—… - - 257 - 1200839 - - Glycogen storage disease type I-III-VI-IX - ็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹ - - - - ็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹ - - - 257 - 1200840 - - Glycogen storage disease type Ia - ็ณ–ๅŽŸ็—…โ… aๅž‹ - + + NANDO:1200839 + obsolete Hepatic glycogen storage disease type I-III-VI-IX + obsolete ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1-3-6-9ใŒใŸ + obsolete ่‚ๅž‹็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹ + + true + obsolete ่‚ๅž‹็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹ + + + 257 + NANDO:1200840 + + Hepatic Glycogen storage disease type Ia + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใˆใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…Iaๅž‹ - + Glycogen storage disease due to glucose-6-phosphatase deficiency - ใ‚ฏใ‚™ใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ปใ‚™ๆฌ ๆ็—‡ + ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - - ็ณ–ๅŽŸ็—…โ… aๅž‹ - - - 257 - 1200841 - - Glycogen storage disease type Ib - ็ณ–ๅŽŸ็—…โ… bๅž‹ + ่‚ๅž‹็ณ–ๅŽŸ็—…Iaๅž‹ + + + 257 + NANDO:1200841 + + Hepatic Glycogen storage disease type Ib + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…Ibๅž‹ - + G6P translocase deficiency G6PT deficiency - ใ‚ฏใ‚™ใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ปใ‚™ใƒˆใƒฉใƒณใ‚นใƒ›ใ‚šใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡ + ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡ - ็ณ–ๅŽŸ็—…โ… bๅž‹ - - - 257 - 1200842 - - GSD type IIIa - ็ณ–ๅŽŸ็—…โ…ขaๅž‹ - + ่‚ๅž‹็ณ–ๅŽŸ็—…Ibๅž‹ + + + 257 + NANDO:1200842 + + Hepatic GSD type IIIa + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใˆใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIaๅž‹ - + Glycogen storage disease due to glycogen debranching enzyme deficiency ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡ - - ็ณ–ๅŽŸ็—…โ…ขaๅž‹ - - - 257 - 1200843 - - GSD type IIIb - ็ณ–ๅŽŸ็—…โ…ขbๅž‹ - + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIaๅž‹ + + + 257 + NANDO:1200843 + + Hepatic GSD type IIIb + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใณใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIbๅž‹ - + Glycogen storage disease due to glycogen debranching enzyme deficiency ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡ - - ็ณ–ๅŽŸ็—…โ…ขbๅž‹ - - - 257 - 1200844 - - GSD type IIIc - ็ณ–ๅŽŸ็—…โ…ขcๅž‹ + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIbๅž‹ + + + 257 + NANDO:1200844 + + Hepatic GSD type IIIc + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใ—ใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIcๅž‹ - + amylo 1,6- glucosidase deficiency ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - ็ณ–ๅŽŸ็—…โ…ขcๅž‹ - - - 257 - 1200845 - - GSD type IIId - ็ณ–ๅŽŸ็—…โ…ขdๅž‹ + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIcๅž‹ + + + 257 + NANDO:1200845 + + Hepatic GSD type IIId + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIdๅž‹ + - + 4-alpha-glucanotransferase deficiency ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - ็ณ–ๅŽŸ็—…โ…ขdๅž‹ - - - 257 - 1200846 - - Glycogen storage disease type VI - ็ณ–ๅŽŸ็—…โ…ฅๅž‹ + + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIdๅž‹ + + + 257 + NANDO:1200846 + + Hepatic Glycogen storage disease type VI + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†6ใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…VIๅž‹ - + Hepatic phosphorylase deficiency Hers disease ใƒใƒผใ‚น็—… ่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - ็ณ–ๅŽŸ็—…โ…ฅๅž‹ - - - 257 - 1200847 - - Glycogen storage disease type โ…จa - ็ณ–ๅŽŸ็—…โ…จaๅž‹ + ่‚ๅž‹็ณ–ๅŽŸ็—…VIๅž‹ + + + 257 + NANDO:1200847 + + Hepatic Glycogen storage disease type IXa + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใˆใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IXaๅž‹ + - + + Hepatic Glycogen storage disease type IX a + ฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚ๅž‹๏ผ‰ ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰ - ็ณ–ๅŽŸ็—…โ…จaๅž‹ - - - 257 - 1200848 - - Glycogen storage disease type โ…จb - ็ณ–ๅŽŸ็—…โ…จbๅž‹ + + ่‚ๅž‹็ณ–ๅŽŸ็—…IXaๅž‹ + + + 257 + NANDO:1200848 + + Hepatic glycogen storage disease type IXb + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใณใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IXbๅž‹ + - + + Hepatic glycogen storage disease type IX b + ฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚็ญ‹ๅž‹๏ผ‰ ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰ - ็ณ–ๅŽŸ็—…โ…จbๅž‹ - - - 257 - 1200849 - - Glycogen storage disease type โ…จc - ็ณ–ๅŽŸ็—…โ…จcๅž‹ + + ่‚ๅž‹็ณ–ๅŽŸ็—…IXbๅž‹ + + + 257 + NANDO:1200849 + + Hepatic glycogen storage disease type IXc + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใ—ใƒผใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IXcๅž‹ + - + + Hepatic glycogen storage disease type IX c + ฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚ๅž‹๏ผ‰ ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰ - ็ณ–ๅŽŸ็—…โ…จcๅž‹ - - - 257 - 1200850 - - Glycogen storage disease type IV - โ…ฃๅž‹็ณ–ๅŽŸ็—… + + ่‚ๅž‹็ณ–ๅŽŸ็—…IXcๅž‹ + + + 257 + NANDO:1200850 + + Hepatic Glycogen storage disease type IV + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + - + + ใ‚ขใƒŸใƒญ1๏ผŒ4โ†’1๏ผŒ6ใƒˆใƒฉใƒณใ‚นใ‚ฐใƒซใ‚ณใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - โ…ฃๅž‹็ณ–ๅŽŸ็—… + ่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ - - 258 - ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅˆใฏๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200851 - + + 258 + ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅˆใฏๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200851 + Galactose-1-phosphate Uridyltransferase Deficiency + ใŒใ‚‰ใใจใƒผใ™1ใ‚Šใ‚“ใ•ใ‚“ใ†ใ‚Šใ˜ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + - + GALT deficiency + GALTๆฌ ๆ็—‡ Galactose-1-phosphate uridylyltransferase deficiency Galactosemia type 1 + ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น่ก€็—‡I ๅž‹ ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 259 - ๅฎถๆ—ๆ€งใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆlecithin cholesterol acyl transferase๏ผšLCAT๏ผ‰ๆฌ ๆ็—‡ใฏใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฎใจใ“ใ‚ไธ–็•Œใง80็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใจใ‚Šใ‚ใ‘ใ€ๅŒ—ๆฌงใ‚„ๆˆ‘ใŒๅ›ฝใงใฎๅ ฑๅ‘ŠใŒๅคšใ„ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใช้…ต็ด  LCATใฎ้…ต็ด ๆฌ ๆใ‚„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€้Š้›ขใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒฌใ‚ทใƒใƒณ๏ผˆใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณ๏ผ‰ใŒๅข—ๅŠ ใ—ใ€ใใฎ็ตๆžœHDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่‘—ๅใชไฝŽไธ‹ๅŠใณ่ก€ๆธ…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚็ต„ๆˆใฎๅค‰ๅŒ–ใ—ใŸใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใŒ็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใงใ€่ง’่†œๆททๆฟใ€ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่…Ž้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚ - 1200852 - + + 259 + ๅฎถๆ—ๆ€งใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆlecithin cholesterol acyl transferase๏ผšLCAT๏ผ‰ๆฌ ๆ็—‡ใฏใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฎใจใ“ใ‚ไธ–็•Œใง80็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใจใ‚Šใ‚ใ‘ใ€ๅŒ—ๆฌงใ‚„ๆˆ‘ใŒๅ›ฝใงใฎๅ ฑๅ‘ŠใŒๅคšใ„ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใช้…ต็ด  LCATใฎ้…ต็ด ๆฌ ๆใ‚„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€้Š้›ขใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒฌใ‚ทใƒใƒณ๏ผˆใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณ๏ผ‰ใŒๅข—ๅŠ ใ—ใ€ใใฎ็ตๆžœHDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่‘—ๅใชไฝŽไธ‹ๅŠใณ่ก€ๆธ…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚็ต„ๆˆใฎๅค‰ๅŒ–ใ—ใŸใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใŒ็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใงใ€่ง’่†œๆททๆฟใ€ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่…Ž้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚ + NANDO:1200852 + Lecithin Cholesterol Acyltransferase Deficiency + ใ‚Œใ—ใกใ‚“ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‚ใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + LCAT deficiency + LCATๆฌ ๆ็—‡ ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 260 - ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ใจใ‚‹้บไผๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚Šใ€ๆžœ็‰ฉใ‚„้‡Ž่œใซๅซใพใ‚Œใ‚‹ๆค็‰ฉใ‚นใƒ†ใƒญใƒผใƒซใฎไธ€็จฎใงใ‚ใ‚‹ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใฎๆŽ’ๆณ„ไฝŽไธ‹ใซใ‚ˆใ‚Š่ก€ไธญๅˆใฏ็ต„็น”ใซใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซใ‚„ๆ—ฉ็™บๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใจใ„ใฃใŸ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200853 - + + 260 + ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ใจใ‚‹้บไผๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚Šใ€ๆžœ็‰ฉใ‚„้‡Ž่œใซๅซใพใ‚Œใ‚‹ๆค็‰ฉใ‚นใƒ†ใƒญใƒผใƒซใฎไธ€็จฎใงใ‚ใ‚‹ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใฎๆŽ’ๆณ„ไฝŽไธ‹ใซใ‚ˆใ‚Š่ก€ไธญๅˆใฏ็ต„็น”ใซใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซใ‚„ๆ—ฉ็™บๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใจใ„ใฃใŸ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200853 + Sitosterolemia + ใ—ใจใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ† ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ + - - + + + Sitosterolaemia ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ - - 261 - ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…ใฏใ€่ก€ๆธ…HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใƒปใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-๏ผฉๆฟƒๅบฆใŒ่‘—ใ—ใ„ไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Šใ€HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๆฌ ๆ็—‡ใฎใปใ‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๅ’ฝ้ ญๆ‰ๆกƒ่…ซๅคงใ€่‚่„พ่…ซใ€่ง’่†œๆททๆฟใ€ๆœซๆขข็ฅž็ตŒ้šœๅฎณใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-๏ผฉใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซใŠใ„ใฆ้‡่ฆใชATP binding cassette transporter A1๏ผˆABCA1๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ–็•Œ็š„ใซใ‚‚ใพใ‚Œใงๆˆ‘ใŒๅ›ฝใงใฏ10ๅฎถ็ณป็จ‹ๅบฆใฎๅ ฑๅ‘Šใ—ใ‹ใชใ„ใ€‚่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๆฅใ™ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ - 1200854 - + + 261 + ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…ใฏใ€่ก€ๆธ…HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใƒปใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-๏ผฉๆฟƒๅบฆใŒ่‘—ใ—ใ„ไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Šใ€HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๆฌ ๆ็—‡ใฎใปใ‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๅ’ฝ้ ญๆ‰ๆกƒ่…ซๅคงใ€่‚่„พ่…ซใ€่ง’่†œๆททๆฟใ€ๆœซๆขข็ฅž็ตŒ้šœๅฎณใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-๏ผฉใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซใŠใ„ใฆ้‡่ฆใชATP binding cassette transporter A1๏ผˆABCA1๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ–็•Œ็š„ใซใ‚‚ใพใ‚Œใงๆˆ‘ใŒๅ›ฝใงใฏ10ๅฎถ็ณป็จ‹ๅบฆใฎๅ ฑๅ‘Šใ—ใ‹ใชใ„ใ€‚่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๆฅใ™ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:1200854 + Tangier disease + ใŸใ‚“ใ˜ใƒผใ‚‹ใณใ‚‡ใ† ใ‚ฟใƒณใ‚ธใƒผใƒซ็—… - + ใ‚ฟใƒณใ‚ธใƒผใƒซ็—… - - 262 - ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณไปฃ่ฌใซๅฟ…่ฆใช้…ต็ด ใฎๆฌ ๆใ‚„ใ€่ผธ้€่›‹็™ฝใฎๆฌ ๆใชใฉใซใ‚ˆใ‚Šใ€่ก€ไธญใซ็•ฐๅธธใซใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซ๏ผˆ็™บ็–นๆ€ง้ป„่‰ฒ่…ซ๏ผ‰ใ‚„ใ€ๆ™‚ใซๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ•ใ›ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณช็•ฐๅธธ็—‡ใฎWHOๅˆ†้กžใงใฏIๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎๅข—ๅŠ ๏ผ‰ๅŠใณVๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใจVLDLใฎๅข—ๅŠ ๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’็คบใ™ใ€‚ใ€€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใจใ—ใฆใ€ใƒชใƒ่›‹็™ฝใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏC-IIๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-Vๆฌ ๆ็—‡ใ€GPIHBP1ๆฌ ๆ็—‡ใ€LMF1ๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€ง๏ผถๅž‹้ซ˜่„‚่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใ‚‚่ก€ๆธ…ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ไธŠๆ˜‡ใซใ‚ˆใ‚Šๆ€ฅๆ€ง่†ต็‚Žใฎ็™บ็—‡ใƒป้‡็—‡ๅŒ–ใƒชใ‚นใ‚ฏใŒ้ซ˜ใใชใ‚‹ใ€‚ - 1200855 - - Primary Hyperchylomicronemia + + 262 + ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณไปฃ่ฌใซๅฟ…่ฆใช้…ต็ด ใฎๆฌ ๆใ‚„ใ€่ผธ้€่›‹็™ฝใฎๆฌ ๆใชใฉใซใ‚ˆใ‚Šใ€่ก€ไธญใซ็•ฐๅธธใซใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซ๏ผˆ็™บ็–นๆ€ง้ป„่‰ฒ่…ซ๏ผ‰ใ‚„ใ€ๆ™‚ใซๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ•ใ›ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณช็•ฐๅธธ็—‡ใฎWHOๅˆ†้กžใงใฏIๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎๅข—ๅŠ ๏ผ‰ๅŠใณVๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใจVLDLใฎๅข—ๅŠ ๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’็คบใ™ใ€‚ใ€€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใจใ—ใฆใ€ใƒชใƒ่›‹็™ฝใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏC-IIๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-Vๆฌ ๆ็—‡ใ€GPIHBP1ๆฌ ๆ็—‡ใ€LMF1ๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€ง๏ผถๅž‹้ซ˜่„‚่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใ‚‚่ก€ๆธ…ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ไธŠๆ˜‡ใซใ‚ˆใ‚Šๆ€ฅๆ€ง่†ต็‚Žใฎ็™บ็—‡ใƒป้‡็—‡ๅŒ–ใƒชใ‚นใ‚ฏใŒ้ซ˜ใใชใ‚‹ใ€‚ + NANDO:1200855 + + Primary hyperchylomicronemia + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ„ใ‚ใฟใใ‚ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ + - + + Primary hyperchylomicronaemia + ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ - - 263 - ่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡๏ผˆ27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใฏใ€ใ‚ทใƒˆใ‚ฏใƒญใƒ P-450๏ผˆCYP๏ผ‰้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚ŠCYP่›‹็™ฝใงใ‚ใ‚‹27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆCYP27๏ผ‰ๆดปๆ€งใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฅž็ตŒ็ต„็น”ใ‚„่…ฑ็ต„็น”ใซ่“„็ฉใ—ใŸ่„‚่ณชๆˆๅˆ†ใŒใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅŠใณใ‚ณใƒฌใ‚นใ‚ฟใƒŽใƒผใƒซ๏ผˆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใซ้กžไผผใ—ใŸๆง‹้€ ใ‚’็คบใ™็‰ฉ่ณช๏ผ‰ใงใ‚ใฃใŸใ“ใจใ‹ใ‚‰ใ€ๅ…ˆๅคฉๆ€งใ‚นใƒ†ใƒญใƒผใƒซ่“„็ฉ็—‡ใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏ60ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใฟใ‚‰ใ‚Œใ€20ๆญณไปฅๅ‰ใซๅคšใใŒ็™บ็—‡ใ—ใ€ๅนณๅ‡ๅนด้ฝขใŒ็”ทๆ€ง40.4ๆญณใ€ๅฅณๆ€ง36.8ๆญณใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็Ÿฅ่ƒฝไฝŽไธ‹ใƒป้Œ˜ไฝ“่ทฏ็—‡็Šถใƒปๅฐ่„ณ็—‡็Šถใชใฉใฎ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณใ€ใ‚ขใ‚ญใƒฌใ‚น่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ€ๆ—ฉ็™บๆ€งๅฟƒ่ก€็ฎก็–พๆ‚ฃใชใฉใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200856 - + + 263 + ่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡๏ผˆ27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใฏใ€ใ‚ทใƒˆใ‚ฏใƒญใƒ P-450๏ผˆCYP๏ผ‰้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚ŠCYP่›‹็™ฝใงใ‚ใ‚‹27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆCYP27๏ผ‰ๆดปๆ€งใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฅž็ตŒ็ต„็น”ใ‚„่…ฑ็ต„็น”ใซ่“„็ฉใ—ใŸ่„‚่ณชๆˆๅˆ†ใŒใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅŠใณใ‚ณใƒฌใ‚นใ‚ฟใƒŽใƒผใƒซ๏ผˆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใซ้กžไผผใ—ใŸๆง‹้€ ใ‚’็คบใ™็‰ฉ่ณช๏ผ‰ใงใ‚ใฃใŸใ“ใจใ‹ใ‚‰ใ€ๅ…ˆๅคฉๆ€งใ‚นใƒ†ใƒญใƒผใƒซ่“„็ฉ็—‡ใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏ60ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใฟใ‚‰ใ‚Œใ€20ๆญณไปฅๅ‰ใซๅคšใใŒ็™บ็—‡ใ—ใ€ๅนณๅ‡ๅนด้ฝขใŒ็”ทๆ€ง40.4ๆญณใ€ๅฅณๆ€ง36.8ๆญณใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็Ÿฅ่ƒฝไฝŽไธ‹ใƒป้Œ˜ไฝ“่ทฏ็—‡็Šถใƒปๅฐ่„ณ็—‡็Šถใชใฉใฎ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณใ€ใ‚ขใ‚ญใƒฌใ‚น่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ€ๆ—ฉ็™บๆ€งๅฟƒ่ก€็ฎก็–พๆ‚ฃใชใฉใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200856 + Cerebrotendinous xanthomatosis + ใฎใ†ใ‘ใ‚“ใŠใ†ใ—ใ‚‡ใใ—ใ‚…ใ—ใ‚‡ใ† ่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡ - + ่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡ - - 264 - ็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ใฏ่‘—ใ—ใ„ไฝŽใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ๅŠใณไฝŽใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’ๆฅใ™ใ€ใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒBๅซๆœ‰ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใ€VLDLใ€LDLใŒๆฌ ๅฆ‚ใ—ใฆใŠใ‚Šใ€ๆ‚ฃ่€…่ก€ไธญใซใ‚ขใƒBใฏใ‚ขใƒB-48ใ€ใ‚ขใƒB-100ใจใ‚‚ใซ่ชใ‚ใชใ„ใ€‚่„‚่‚ชๅธๅŽ้šœๅฎณใจใใ‚Œใซใ‚ˆใ‚‹่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไน็—‡ใŒๆŽˆไนณ้–‹ๅง‹ๆ™‚ใ‚ˆใ‚ŠๆŒ็ถšใ™ใ‚‹ใŸใ‚ใ€้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้•ทๆœŸใซ็ถ™็ถšใ—ใชใ„ใจไธๅฏ้€†็š„ใช็œผ็—‡็Šถใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ—ใ†ใ‚‹ใ€‚1993ๅนดใซๆœฌ็–พๆ‚ฃใซใŠใ„ใฆMTPใฎ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚Œใ€MTPๆฌ ๆ็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 1200857 - + + 264 + ็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ใฏ่‘—ใ—ใ„ไฝŽใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ๅŠใณไฝŽใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’ๆฅใ™ใ€ใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒBๅซๆœ‰ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใ€VLDLใ€LDLใŒๆฌ ๅฆ‚ใ—ใฆใŠใ‚Šใ€ๆ‚ฃ่€…่ก€ไธญใซใ‚ขใƒBใฏใ‚ขใƒB-48ใ€ใ‚ขใƒB-100ใจใ‚‚ใซ่ชใ‚ใชใ„ใ€‚่„‚่‚ชๅธๅŽ้šœๅฎณใจใใ‚Œใซใ‚ˆใ‚‹่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไน็—‡ใŒๆŽˆไนณ้–‹ๅง‹ๆ™‚ใ‚ˆใ‚ŠๆŒ็ถšใ™ใ‚‹ใŸใ‚ใ€้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้•ทๆœŸใซ็ถ™็ถšใ—ใชใ„ใจไธๅฏ้€†็š„ใช็œผ็—‡็Šถใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ—ใ†ใ‚‹ใ€‚1993ๅนดใซๆœฌ็–พๆ‚ฃใซใŠใ„ใฆMTPใฎ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚Œใ€MTPๆฌ ๆ็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:1200857 + Abetalipoproteinemia + ใ‚€ในใƒผใŸใ‚ŠใฝใŸใ‚“ใฑใใ‘ใฃใ—ใ‚‡ใ† ็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ + - - + + + Abetalipoproteinaemia + MTPๆฌ ๆ็—‡ ็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ - - 265 - ่„‚่‚ช่Ž็ธฎ็—‡ใฏๅ…จ่บซๆ€งใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆ€งใซ่„‚่‚ช็ต„็น”ใŒๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ€่„‚่‚ช็ต„็น”ใฎๆถˆๅคฑใจใจใ‚‚ใซ้‡ๅบฆใฎใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ‚„้ซ˜ไธญๆ€ง่„‚่‚ช่ก€็—‡ใ€้žใ‚ขใƒซใ‚ณใƒผใƒซๆ€ง่„‚่‚ช่‚็‚Žใชใฉๆง˜ใ€…ใชไปฃ่ฌ็•ฐๅธธใ‚’็™บ็—‡ใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่‚ช่Ž็ธฎใใฎใ‚‚ใฎใซๅฏพใ™ใ‚‹ๆ นๆฒป็™‚ๆณ•ใฏ้–‹็™บใ•ใ‚Œใฆใ„ใชใ„ใŒใ€่„‚่‚ช่Ž็ธฎใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ‚’ไธญๅฟƒใจใ™ใ‚‹ไปฃ่ฌ็•ฐๅธธใซๅฏพใ—ใฆใฏใ€ใƒฌใƒ—ใƒใƒณใฎๆœ‰ๅŠนๆ€งใŒ่จผๆ˜Žใ•ใ‚Œใ€ใƒฌใƒ—ใƒใƒณ่ฃฝๅ‰คใฎๅธ‚่ฒฉใŒๆœ€่ฟ‘้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ - 1200858 - + + 265 + ่„‚่‚ช่Ž็ธฎ็—‡ใฏๅ…จ่บซๆ€งใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆ€งใซ่„‚่‚ช็ต„็น”ใŒๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ€่„‚่‚ช็ต„็น”ใฎๆถˆๅคฑใจใจใ‚‚ใซ้‡ๅบฆใฎใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ‚„้ซ˜ไธญๆ€ง่„‚่‚ช่ก€็—‡ใ€้žใ‚ขใƒซใ‚ณใƒผใƒซๆ€ง่„‚่‚ช่‚็‚Žใชใฉๆง˜ใ€…ใชไปฃ่ฌ็•ฐๅธธใ‚’็™บ็—‡ใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่‚ช่Ž็ธฎใใฎใ‚‚ใฎใซๅฏพใ™ใ‚‹ๆ นๆฒป็™‚ๆณ•ใฏ้–‹็™บใ•ใ‚Œใฆใ„ใชใ„ใŒใ€่„‚่‚ช่Ž็ธฎใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ‚’ไธญๅฟƒใจใ™ใ‚‹ไปฃ่ฌ็•ฐๅธธใซๅฏพใ—ใฆใฏใ€ใƒฌใƒ—ใƒใƒณใฎๆœ‰ๅŠนๆ€งใŒ่จผๆ˜Žใ•ใ‚Œใ€ใƒฌใƒ—ใƒใƒณ่ฃฝๅ‰คใฎๅธ‚่ฒฉใŒๆœ€่ฟ‘้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ + NANDO:1200858 + Lipodystrophy + ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ่„‚่‚ช่Ž็ธฎ็—‡ + - + + ่„‚่‚ช็•ฐๆ „้คŠ็—‡ ่„‚่‚ช่Ž็ธฎ็—‡ - - 265 - 1200859 - + + 265 + NANDO:1200859 + Generalized congenital lipodystrophy + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - + + ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - - 265 - 1200860 - + + 265 + NANDO:1200860 + Acquired generalized lipodystrophy + ใ“ใ†ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - + ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - - 265 - 1200861 - + + 265 + NANDO:1200861 + Familial partial lipodystrophy + ใ‹ใžใใ›ใ„ใถใถใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ + - + ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - - 265 - 1200862 - + + 265 + NANDO:1200862 + Partial acquired lipodystrophy + ใ“ใ†ใฆใ‚“ใ›ใ„ใถใถใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - + ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - - 266 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever๏ผšFMF๏ผ‰ใฏใ€็‚Ž็—‡็ตŒ่ทฏใฎใฒใจใคใงใ‚ใ‚‹ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ใฎๅƒใใ‚’ๆŠ‘ใˆใ‚‹ใƒ‘ใ‚คใƒชใƒณใฎ็•ฐๅธธใง็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บไฝœๆ€งใฎ็™บ็†ฑใ‚„้šไผด็—‡็Šถใจใ—ใฆๆผฟ่†œ็‚Žใซใ‚ˆใ‚‹ๆฟ€ใ—ใ„็–ผ็—›ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 1200863 - + + 266 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever๏ผšFMF๏ผ‰ใฏใ€็‚Ž็—‡็ตŒ่ทฏใฎใฒใจใคใงใ‚ใ‚‹ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ใฎๅƒใใ‚’ๆŠ‘ใˆใ‚‹ใƒ‘ใ‚คใƒชใƒณใฎ็•ฐๅธธใง็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บไฝœๆ€งใฎ็™บ็†ฑใ‚„้šไผด็—‡็Šถใจใ—ใฆๆผฟ่†œ็‚Žใซใ‚ˆใ‚‹ๆฟ€ใ—ใ„็–ผ็—›ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:1200863 + Familial Mediterranean fever + ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใค ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ - + - - + + FMF ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ - - 266 - 1200864 - + + 266 + NANDO:1200864 + + typical familial Mediterranean fever + ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใคใฆใ‚“ใ‘ใ„ใ‚Œใ„ ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹ + - + + + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹ - - 266 - 1200865 - + + 266 + NANDO:1200865 + Atypical familial Mediterranean fever + ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใคใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„ ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹ - + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹ - - 267 - ้ซ˜IgD็—‡ๅ€™็พค๏ผˆHyper IgD Syndrome๏ผšHIDS๏ผ‰ใฏใ€ๅˆฅๅใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผˆMevalonate Kinase Deficiency๏ผšMKD๏ผ‰ใจใ‚‚่จ€ใ„ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMVK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ก€ๆธ…IgDใŒ้ซ˜ๅ€คใงใ‚ใ‚‹็—‡ไพ‹ใŒๅคšใ„ใ“ใจใงๅ‘ฝๅใŒใชใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚ - 1200866 - - Hyper-IgD syndrome + + 267 + ้ซ˜IgD็—‡ๅ€™็พค๏ผˆHyper IgD Syndrome๏ผšHIDS๏ผ‰ใฏใ€ๅˆฅๅใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผˆMevalonate Kinase Deficiency๏ผšMKD๏ผ‰ใจใ‚‚่จ€ใ„ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMVK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ก€ๆธ…IgDใŒ้ซ˜ๅ€คใงใ‚ใ‚‹็—‡ไพ‹ใŒๅคšใ„ใ“ใจใงๅ‘ฝๅใŒใชใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚ + NANDO:1200866 + + hyper IgD syndrome + ใ“ใ†ใ‚ใ„ใ˜ใƒผใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค + + - + Hyperimmunoglobulinemia D and periodic fever syndrome + MKD + Mevalonate Kinase Deffiency + ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ + ้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค - - 268 - ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใจ้€ฒ่กŒๆ€งใฎใ‚„ใ›ใƒปๆถˆ่€—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€็‰น็•ฐใช้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใ€‚1939ๅนดใฎไธญๆขใ€1950ๅนดใฎ่ฅฟๆ‘ใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ใ€Œๅ‡็˜กใ‚’ๅˆไฝตใ™ใ‚‹้ชจ้ชจ่†œ็—‡ใ€ใชใฉใฎ็—…ๅใงใ€ๅ’ŒๆญŒๅฑฑใƒปๆณ‰ๅ—ใ‚’ไธญๅฟƒใจใ—ใŸ้–ข่ฅฟใจ้–ขๆฑใƒปๆฑๅŒ—ใ‹ใ‚‰ใ€ใ“ใ‚Œใพใงใซ30ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ใ€€ๅนผๅฐๅ…ๆœŸใซๅ‡็˜กๆง˜็šฎ็–นใซใฆ็™บ็—‡ใ—ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ‚„ๅ‘จๆœŸๆ€ง็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใชใŒใ‚‰ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆ็‰นๆœ‰ใจใ•ใ‚ŒใŸใŒใ€2010ๅนดใซๆœฌ็–พๆ‚ฃใจ่‡จๅบŠ็š„ใซ้…ทไผผใ™ใ‚‹็—‡ไพ‹ใŒJMP็—‡ๅ€™็พคใƒปCANDLE ็—‡ๅ€™็พคใจใ„ใ†็—…ๅใงๆฌง็ฑณใƒปไธญๆฑใ‹ใ‚‰ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚๏ผ“็–พๆ‚ฃใจใ‚‚ใ€ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ่ค‡ๅˆไฝ“ใฎ่ช˜ๅฐŽๅž‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹PSMB8้บไผๅญใซๅค‰็•ฐใฎใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใ‚Œใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅŒไธ€็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200867 - + + 268 + ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใจ้€ฒ่กŒๆ€งใฎใ‚„ใ›ใƒปๆถˆ่€—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€็‰น็•ฐใช้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใ€‚1939ๅนดใฎไธญๆขใ€1950ๅนดใฎ่ฅฟๆ‘ใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ใ€Œๅ‡็˜กใ‚’ๅˆไฝตใ™ใ‚‹้ชจ้ชจ่†œ็—‡ใ€ใชใฉใฎ็—…ๅใงใ€ๅ’ŒๆญŒๅฑฑใƒปๆณ‰ๅ—ใ‚’ไธญๅฟƒใจใ—ใŸ้–ข่ฅฟใจ้–ขๆฑใƒปๆฑๅŒ—ใ‹ใ‚‰ใ€ใ“ใ‚Œใพใงใซ30ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ใ€€ๅนผๅฐๅ…ๆœŸใซๅ‡็˜กๆง˜็šฎ็–นใซใฆ็™บ็—‡ใ—ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ‚„ๅ‘จๆœŸๆ€ง็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใชใŒใ‚‰ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆ็‰นๆœ‰ใจใ•ใ‚ŒใŸใŒใ€2010ๅนดใซๆœฌ็–พๆ‚ฃใจ่‡จๅบŠ็š„ใซ้…ทไผผใ™ใ‚‹็—‡ไพ‹ใŒJMP็—‡ๅ€™็พคใƒปCANDLE ็—‡ๅ€™็พคใจใ„ใ†็—…ๅใงๆฌง็ฑณใƒปไธญๆฑใ‹ใ‚‰ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚๏ผ“็–พๆ‚ฃใจใ‚‚ใ€ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ่ค‡ๅˆไฝ“ใฎ่ช˜ๅฐŽๅž‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹PSMB8้บไผๅญใซๅค‰็•ฐใฎใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใ‚Œใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅŒไธ€็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200867 + Nakajo-Nishimura syndrome + ใชใ‹ใ˜ใ‚‡ใ†ใƒปใซใ—ใ‚€ใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค - + - + Autoinflammation, lipodystrophy, and dermatosis syndrome CANDLE syndrome JMP syndrome - - - - ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค - - 269 - PSTPIP1๏ผˆproline-serine-threonine phosphatase interacting protein 1๏ผˆCD2-binding protein 1๏ผšCD2BP1๏ผ‰๏ผ‰ใฎๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใง็™บ็—‡ใ—ใ€้€ฒ่กŒๆ€งใฎใณใ‚‰ใ‚“ๆ€ง้–ข็ฏ€็‚ŽๅŠใณใ€้›ฃๆฒปๆ€งใฎ็šฎ่†š็—‡็Šถ๏ผˆๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ๆง˜็—…ๅค‰ใ€ๅšข่ƒžๆ€งๅบง็˜ก๏ผ‰ใ‚’ไผดใ†ใ€‚ - 1200868 - + + 269 + PSTPIP1๏ผˆproline-serine-threonine phosphatase interacting protein 1๏ผˆCD2-binding protein 1๏ผšCD2BP1๏ผ‰๏ผ‰ใฎๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใง็™บ็—‡ใ—ใ€้€ฒ่กŒๆ€งใฎใณใ‚‰ใ‚“ๆ€ง้–ข็ฏ€็‚ŽๅŠใณใ€้›ฃๆฒปๆ€งใฎ็šฎ่†š็—‡็Šถ๏ผˆๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ๆง˜็—…ๅค‰ใ€ๅšข่ƒžๆ€งๅบง็˜ก๏ผ‰ใ‚’ไผดใ†ใ€‚ + NANDO:1200868 + Pyogenic Arthritis, Pyoderma Gangrenosum, Acne Syndrome + ใ‹ใฎใ†ใ›ใ„ใ‚€ใใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ใƒปใˆใใ›ใ„ใฎใ†ใฒใ—ใ‚‡ใ†ใƒปใ‚ใใญใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค + - + PAPA syndrome + PAPA็—‡ๅ€™็พค Pyogenic arthritis, pyoderma gangrenosum and acne syndrome - ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค - - 270 - ๅŽŸๅ› ไธๆ˜Žใชใ€็„ก่Œๆ€งใƒป้ž่…ซ็˜ๆ€งใฎ้ชจใƒป้ชจ้ซ„ใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅค‰ใฏๅ˜็™บๆ€งใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใซ็™บ็—‡ใ—ใ€ๆ€ฅๆ€งใƒปๆ…ขๆ€งใƒปๅ†็™บๆ€งใ„ใšใ‚Œใฎ็ตŒ้Žใ‚‚ใจใ‚Šๅพ—ใ‚‹ใŒใ€ใ“ใฎใ†ใกๅคš็™บๆ€งใซ็™บ็—‡ใ—ๆ…ขๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็—…ๆ…‹ใ‚’ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใจๅ‘ผใถใ€‚็—‡็Šถใจใ—ใฆ้ชจ็—›ๅŠใณใใฎ้ƒจไฝใซไธ€่‡ดใ—ใŸ็šฎ่†šใฎ็†ฑๆ„Ÿใจ็™บ่ตคใ‚’่ชใ‚ใ‚‹ใ€‚ - 1200869 - + + 270 + ๅŽŸๅ› ไธๆ˜Žใชใ€็„ก่Œๆ€งใƒป้ž่…ซ็˜ๆ€งใฎ้ชจใƒป้ชจ้ซ„ใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅค‰ใฏๅ˜็™บๆ€งใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใซ็™บ็—‡ใ—ใ€ๆ€ฅๆ€งใƒปๆ…ขๆ€งใƒปๅ†็™บๆ€งใ„ใšใ‚Œใฎ็ตŒ้Žใ‚‚ใจใ‚Šๅพ—ใ‚‹ใŒใ€ใ“ใฎใ†ใกๅคš็™บๆ€งใซ็™บ็—‡ใ—ๆ…ขๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็—…ๆ…‹ใ‚’ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใจๅ‘ผใถใ€‚็—‡็Šถใจใ—ใฆ้ชจ็—›ๅŠใณใใฎ้ƒจไฝใซไธ€่‡ดใ—ใŸ็šฎ่†šใฎ็†ฑๆ„Ÿใจ็™บ่ตคใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:1200869 + Chronic recurrent multifocal osteomyelitis + ใพใ‚“ใ›ใ„ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใ›ใ„ใ“ใคใšใ„ใˆใ‚“ ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž + - + ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž - - 271 - ไธปใซ่„ŠๆคŽใƒป้ชจ็›ค๏ผˆไป™่…ธ้–ข็ฏ€๏ผ‰ๅŠใณๅ››่‚ขใฎๅคง้–ข็ฏ€ใ‚’ไพตใ™ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใŒ30ๆญณๅ‰ใฎ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€้ ธ๏ฝž่ƒŒ๏ฝž่…ฐๆฎฟ้ƒจใ€่ƒธ้ƒจใ€ใ•ใ‚‰ใซใฏ่‚กใ€่†ใ€่‚ฉ้–ข็ฏ€ใชใฉๅ…จ่บซๅบƒ็ฏ„ๅ›ฒใซ็‚Ž็—‡ๆ€ง็–ผ็—›ใŒๆ‹กใŒใ‚Šใ€ๆฌก็ฌฌใซๅ„้ƒจไฝใฎๆ‹˜็ธฎ๏ผˆ้‹ๅ‹•ๅˆถ้™๏ผ‰ใ‚„ๅผท็›ด๏ผˆ้‹ๅ‹•ๆ€งๆถˆๅคฑ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่บซไฝ“็š„ใฎใฟใชใ‚‰ใšๅฟƒ็†็š„ใƒป็คพไผš็š„ใซใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ๆ‹›ใใ€็‰นใซ่‹ฅๅนด่€…ใงใฏๅฐฑๅญฆใƒปๅฐฑๅŠดใฎๅคงใใช้šœๅฃใจใชใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้ ธๆคŽใ‹ใ‚‰่…ฐๆคŽ๏ผˆ้ชจ็›ค๏ผ‰ใพใงๅ…จ่„ŠๆคŽใŒๅพŒๅผฏ๏ผˆๅ‰ๅฑˆ๏ผ‰ไฝใง้ชจๆ€งใซๅผท็›ดใ—ใฆ้‹ๅ‹•ๆ€งใŒๆถˆๅคฑใ—ใ€ๅ‰ๆ–นใ‚’ๆณจ่ฆ–ใงใใชใ„ใ€ไธŠๆ–นใ‚’่ฆ‹ไธŠใ’ใ‚‰ใ‚Œใชใ„ใ€ๅพŒใ‚ใ‚’ๆŒฏใ‚Šๅ‘ใ‘ใชใ„ใ€ๅ‘จๅ›ฒใ‚’่ฆ‹ๅ›žใ›ใชใ„ใ€้•ทๆ™‚้–“ๅŒใ˜ๅงฟๅ‹ข๏ผˆ็ซ‹ไฝใƒปๅบงไฝใƒป่‡ฅไฝ๏ผ‰ใ‚’็ถญๆŒใ™ใ‚‹ใฎใŒๅ›ฐ้›ฃใซใชใ‚‹ใชใฉใ€ๅคšๅฝฉใ‹ใค็‹ฌ็‰นใฎไฝ“ๅนนๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ•ใ‚‰ใซใฏใ€ใ“ใฎใ‚ˆใ†ใชๆ—ฅๅธธ็”ŸๆดปไธŠใฎไธไพฟใซใจใฉใพใ‚‰ใšใ€่„ŠๆคŽ้ชจๆŠ˜ใ‚„ใ“ใ‚Œใซไผดใ†่„Š้ซ„ๆๅ‚ท๏ผˆ้บป็—บ๏ผ‰ใชใฉๅค–ๅ‚ท็™บ็”Ÿใฎๅฑ้™บๆ€งใ‚‚้ซ˜ใพใ‚‹ใ€‚ใ€€้บไผ็š„่ƒŒๆ™ฏใซใ‚ˆใ‚Šใ€ๆˆ‘ใŒๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏๆฌง็ฑณใซๆฏ”ในๆฅตใ‚ใฆๅฐ‘ใชใใ€ๅŒปๅธซใฎ้–“ใงใ‚‚ๅๅˆ†ใซๅ‘จ็Ÿฅใ•ใ‚Œใฆใ„ใชใ„ใŸใ‚่จบๆ–ญใŒ้…ใ‚ŒใŒใกใจใชใ‚Šใ€ๅˆ็™บใ‹ใ‚‰่จบๆ–ญใพใงใซๅนณๅ‡9.3ๅนดใ‚’่ฆใ—ใฆใ„ใ‚‹ใ€‚ - 1200870 - + + 271 + ไธปใซ่„ŠๆคŽใƒป้ชจ็›ค๏ผˆไป™่…ธ้–ข็ฏ€๏ผ‰ๅŠใณๅ››่‚ขใฎๅคง้–ข็ฏ€ใ‚’ไพตใ™ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใŒ30ๆญณๅ‰ใฎ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€้ ธ๏ฝž่ƒŒ๏ฝž่…ฐๆฎฟ้ƒจใ€่ƒธ้ƒจใ€ใ•ใ‚‰ใซใฏ่‚กใ€่†ใ€่‚ฉ้–ข็ฏ€ใชใฉๅ…จ่บซๅบƒ็ฏ„ๅ›ฒใซ็‚Ž็—‡ๆ€ง็–ผ็—›ใŒๆ‹กใŒใ‚Šใ€ๆฌก็ฌฌใซๅ„้ƒจไฝใฎๆ‹˜็ธฎ๏ผˆ้‹ๅ‹•ๅˆถ้™๏ผ‰ใ‚„ๅผท็›ด๏ผˆ้‹ๅ‹•ๆ€งๆถˆๅคฑ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่บซไฝ“็š„ใฎใฟใชใ‚‰ใšๅฟƒ็†็š„ใƒป็คพไผš็š„ใซใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ๆ‹›ใใ€็‰นใซ่‹ฅๅนด่€…ใงใฏๅฐฑๅญฆใƒปๅฐฑๅŠดใฎๅคงใใช้šœๅฃใจใชใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้ ธๆคŽใ‹ใ‚‰่…ฐๆคŽ๏ผˆ้ชจ็›ค๏ผ‰ใพใงๅ…จ่„ŠๆคŽใŒๅพŒๅผฏ๏ผˆๅ‰ๅฑˆ๏ผ‰ไฝใง้ชจๆ€งใซๅผท็›ดใ—ใฆ้‹ๅ‹•ๆ€งใŒๆถˆๅคฑใ—ใ€ๅ‰ๆ–นใ‚’ๆณจ่ฆ–ใงใใชใ„ใ€ไธŠๆ–นใ‚’่ฆ‹ไธŠใ’ใ‚‰ใ‚Œใชใ„ใ€ๅพŒใ‚ใ‚’ๆŒฏใ‚Šๅ‘ใ‘ใชใ„ใ€ๅ‘จๅ›ฒใ‚’่ฆ‹ๅ›žใ›ใชใ„ใ€้•ทๆ™‚้–“ๅŒใ˜ๅงฟๅ‹ข๏ผˆ็ซ‹ไฝใƒปๅบงไฝใƒป่‡ฅไฝ๏ผ‰ใ‚’็ถญๆŒใ™ใ‚‹ใฎใŒๅ›ฐ้›ฃใซใชใ‚‹ใชใฉใ€ๅคšๅฝฉใ‹ใค็‹ฌ็‰นใฎไฝ“ๅนนๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ•ใ‚‰ใซใฏใ€ใ“ใฎใ‚ˆใ†ใชๆ—ฅๅธธ็”ŸๆดปไธŠใฎไธไพฟใซใจใฉใพใ‚‰ใšใ€่„ŠๆคŽ้ชจๆŠ˜ใ‚„ใ“ใ‚Œใซไผดใ†่„Š้ซ„ๆๅ‚ท๏ผˆ้บป็—บ๏ผ‰ใชใฉๅค–ๅ‚ท็™บ็”Ÿใฎๅฑ้™บๆ€งใ‚‚้ซ˜ใพใ‚‹ใ€‚ใ€€้บไผ็š„่ƒŒๆ™ฏใซใ‚ˆใ‚Šใ€ๆˆ‘ใŒๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏๆฌง็ฑณใซๆฏ”ในๆฅตใ‚ใฆๅฐ‘ใชใใ€ๅŒปๅธซใฎ้–“ใงใ‚‚ๅๅˆ†ใซๅ‘จ็Ÿฅใ•ใ‚Œใฆใ„ใชใ„ใŸใ‚่จบๆ–ญใŒ้…ใ‚ŒใŒใกใจใชใ‚Šใ€ๅˆ็™บใ‹ใ‚‰่จบๆ–ญใพใงใซๅนณๅ‡9.3ๅนดใ‚’่ฆใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:1200870 + Ankylosing spondylitis + ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ›ใใคใ„ใˆใ‚“ ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž - + Spondylarthritis ankylopoietica ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž - - 272 - ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆFibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๆฏ่ถพๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆœ‰็—…็Ž‡ใฏ200ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200871 - + + 272 + ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆFibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๆฏ่ถพๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆœ‰็—…็Ž‡ใฏ200ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200871 + Fibrodysplasia ossificans progressiva + ใ—ใ‚“ใ“ใ†ใ›ใ„ใ“ใฃใ‹ใ›ใ„ใ›ใ‚“ใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡ + - + ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡ - - 273 - ๅฐๅ…ใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅดๅผฏ็—‡ใฏใใฎๅŽŸๅ› ใ‚‚ๆง˜ใ€…ใงใ€ใใฎๆ…‹ๆง˜ใ‚‚ๅ€‹ใ€…ใฎๆ‚ฃ่€…ใ”ใจใงๅคงๅค‰ๅคงใใชๅทฎใŒใ‚ใ‚‹ใ€‚ๆˆ้•ทๆœŸใ€็‰นใซๆ€ๆ˜ฅๆœŸใซๆ‚ชๅŒ–ใ—ใ‚„ใ™ใ„ใŒใ€่„ŠๆŸฑๅค‰ๅฝขใฎๆ‚ชๅŒ–ใŒๅฐ‘ใชใ„ใ‚‚ใฎใฏไบˆๅพŒใ‚‚่‰ฏใQOL๏ผˆ็”Ÿๆดปใฎ่ณช๏ผ‰ใฎ่ฆณ็‚นใ‹ใ‚‰ใ‚‚ๅคงใใชๅ•้กŒใซใฏใชใ‚‰ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅค‰ๅฝขใฎไธญใซใฏใใฎๅค‰ๅฝขๆ‚ชๅŒ–ใŒ่‘—ใ—ใ„็—‡ไพ‹ใŒๅฐ‘ใชใ‹ใ‚‰ใšใ‚ใ‚Šใ€ใใ‚Œใซไผดใ„่ƒธ้ƒญๅค‰ๅฝขใ‚‚้ซ˜ๅบฆใซใชใ‚Šใ€่ƒธ้ƒญๅฎน้‡ใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š่‚บๆˆ้•ทใŒ้˜ปๅฎณใ•ใ‚Œๅ‘ผๅธๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๆ‚ฃ่€…ใซใ‚ˆใฃใฆใฏๆˆ้•ทใซไผดใ„ใ•ใ‚‰ใซๆ‚ชๅŒ–ใ—ใฆใ€ๆœ€็ต‚็š„ใซใฏๆ‹˜ๆŸๆ€งๆ›ๆฐ—้šœๅฎณใ€้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณใชใฉใฎ็—…ๆ…‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใฎ็Šถๆ…‹ใจใชใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซ่„ŠๆŸฑๅค‰ๅฝขใชใฉ็จฎใ€…ใฎๅŽŸๅ› ใงๅฐๅ…ๆˆ้•ทๆœŸใซ้ซ˜ๅบฆ่ƒธ้ƒญๅค‰ๅฝขใŒ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใงใฏใ€็ตๆžœใจใ—ใฆๆญฃๅธธใช่‚บใฎๆˆ้•ทใ‚„ใใฎๅ‘ผๅธๆฉŸ่ƒฝใ‚’ใ‚ตใƒใƒผใƒˆใงใใชใ„็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใใฎๆฒป็™‚ใจใ—ใฆVEPTR๏ผˆVertical Expandable Prosthetic Titanium Rib๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ไบบๅทฅ่‚‹้ชจใŒ้–‹็™บใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎไธญใงใ€็‰นใซไธ€ๆฌกๆ€งใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆคŽ้ชจใจ่‚‹้ชจใฎไธกๆ–นใฎ็™บ็”Ÿๅญฆ็š„็•ฐๅธธใซใ‚ˆใ‚Šๅฝขๆ…‹็š„ๅค‰ๅŒ–ใ‚’ๆฅใ—่„ŠๆŸฑๅค‰ๅฝขใฎใฟใชใ‚‰ใš่ƒธ้ƒญๅค‰ๅฝขใจใใ‚Œใ‚‰ใฎๆˆ้•ท้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆœ€็ต‚็š„ใซใฏๅ‘ผๅธๅ™จ็ณปใฎ้šœๅฎณใ‹ใ‚‰็”Ÿๅ‘ฝใซใ‚‚้‡ๅคงใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎ่‡ช็„ถ็ตŒ้Žใ‚„็—…ๆ…‹ใซใฏๆœชใ ๆœช่งฃๆ˜Žใชใ‚‚ใฎใŒๅคšใ€…ใ‚ใ‚‹ใŒใ€VEPTRใ‚’ไปฃ่กจใจใ—ใŸๆˆ้•ทๆธฉๅญ˜ๆ‰‹่ก“ๆฒป็™‚ใฏใ€ๆœฌ็–พๆ‚ฃใซ็ฝนๆ‚ฃใ—ใŸๅฐๅ…ๆ‚ฃ่€…ใฎๆˆ้•ทๅพŒใฎ็”Ÿๆดปใ‚’ๆ”นๅ–„ใ•ใ›ใ‚‹ใฎใฟใชใ‚‰ใšใ€็”Ÿๅ‘ฝไบˆๅพŒใ‚‚ๆ”นๅ–„ใ•ใ›ใ‚‹ใ“ใจใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200872 - + + 273 + ๅฐๅ…ใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅดๅผฏ็—‡ใฏใใฎๅŽŸๅ› ใ‚‚ๆง˜ใ€…ใงใ€ใใฎๆ…‹ๆง˜ใ‚‚ๅ€‹ใ€…ใฎๆ‚ฃ่€…ใ”ใจใงๅคงๅค‰ๅคงใใชๅทฎใŒใ‚ใ‚‹ใ€‚ๆˆ้•ทๆœŸใ€็‰นใซๆ€ๆ˜ฅๆœŸใซๆ‚ชๅŒ–ใ—ใ‚„ใ™ใ„ใŒใ€่„ŠๆŸฑๅค‰ๅฝขใฎๆ‚ชๅŒ–ใŒๅฐ‘ใชใ„ใ‚‚ใฎใฏไบˆๅพŒใ‚‚่‰ฏใQOL๏ผˆ็”Ÿๆดปใฎ่ณช๏ผ‰ใฎ่ฆณ็‚นใ‹ใ‚‰ใ‚‚ๅคงใใชๅ•้กŒใซใฏใชใ‚‰ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅค‰ๅฝขใฎไธญใซใฏใใฎๅค‰ๅฝขๆ‚ชๅŒ–ใŒ่‘—ใ—ใ„็—‡ไพ‹ใŒๅฐ‘ใชใ‹ใ‚‰ใšใ‚ใ‚Šใ€ใใ‚Œใซไผดใ„่ƒธ้ƒญๅค‰ๅฝขใ‚‚้ซ˜ๅบฆใซใชใ‚Šใ€่ƒธ้ƒญๅฎน้‡ใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š่‚บๆˆ้•ทใŒ้˜ปๅฎณใ•ใ‚Œๅ‘ผๅธๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๆ‚ฃ่€…ใซใ‚ˆใฃใฆใฏๆˆ้•ทใซไผดใ„ใ•ใ‚‰ใซๆ‚ชๅŒ–ใ—ใฆใ€ๆœ€็ต‚็š„ใซใฏๆ‹˜ๆŸๆ€งๆ›ๆฐ—้šœๅฎณใ€้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณใชใฉใฎ็—…ๆ…‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใฎ็Šถๆ…‹ใจใชใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซ่„ŠๆŸฑๅค‰ๅฝขใชใฉ็จฎใ€…ใฎๅŽŸๅ› ใงๅฐๅ…ๆˆ้•ทๆœŸใซ้ซ˜ๅบฆ่ƒธ้ƒญๅค‰ๅฝขใŒ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใงใฏใ€็ตๆžœใจใ—ใฆๆญฃๅธธใช่‚บใฎๆˆ้•ทใ‚„ใใฎๅ‘ผๅธๆฉŸ่ƒฝใ‚’ใ‚ตใƒใƒผใƒˆใงใใชใ„็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใใฎๆฒป็™‚ใจใ—ใฆVEPTR๏ผˆVertical Expandable Prosthetic Titanium Rib๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ไบบๅทฅ่‚‹้ชจใŒ้–‹็™บใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎไธญใงใ€็‰นใซไธ€ๆฌกๆ€งใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆคŽ้ชจใจ่‚‹้ชจใฎไธกๆ–นใฎ็™บ็”Ÿๅญฆ็š„็•ฐๅธธใซใ‚ˆใ‚Šๅฝขๆ…‹็š„ๅค‰ๅŒ–ใ‚’ๆฅใ—่„ŠๆŸฑๅค‰ๅฝขใฎใฟใชใ‚‰ใš่ƒธ้ƒญๅค‰ๅฝขใจใใ‚Œใ‚‰ใฎๆˆ้•ท้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆœ€็ต‚็š„ใซใฏๅ‘ผๅธๅ™จ็ณปใฎ้šœๅฎณใ‹ใ‚‰็”Ÿๅ‘ฝใซใ‚‚้‡ๅคงใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎ่‡ช็„ถ็ตŒ้Žใ‚„็—…ๆ…‹ใซใฏๆœชใ ๆœช่งฃๆ˜Žใชใ‚‚ใฎใŒๅคšใ€…ใ‚ใ‚‹ใŒใ€VEPTRใ‚’ไปฃ่กจใจใ—ใŸๆˆ้•ทๆธฉๅญ˜ๆ‰‹่ก“ๆฒป็™‚ใฏใ€ๆœฌ็–พๆ‚ฃใซ็ฝนๆ‚ฃใ—ใŸๅฐๅ…ๆ‚ฃ่€…ใฎๆˆ้•ทๅพŒใฎ็”Ÿๆดปใ‚’ๆ”นๅ–„ใ•ใ›ใ‚‹ใฎใฟใชใ‚‰ใšใ€็”Ÿๅ‘ฝไบˆๅพŒใ‚‚ๆ”นๅ–„ใ•ใ›ใ‚‹ใ“ใจใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200872 + Congenital Scoliosis with Rib Anomalies + ใ‚ใฃใ“ใคใ„ใ˜ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ›ใ‚“ใฆใ„ใ›ใ„ใใใ‚ใ‚“ใ—ใ‚‡ใ† ่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡ - + Congenital scoliosis with rib anomaly ่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡ - - 274 - ้ชจๅฝขๆˆไธๅ…จ็—‡๏ผˆOsteogenesis imperfecta๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจ่„†ๅผฑๆ€งใซใ‚ˆใ‚‹ๆ˜“้ชจๆŠ˜ๆ€งใ‚„้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใซๅŠ ใˆใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ็ด„๏ผ’๏ฝž๏ผ“ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2010ๅนด็‰ˆใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃๅ›ฝ้š›ๅˆ†้กžใงใฏใ€Sillenceใซใ‚ˆใ‚‹๏ผ‘ๅž‹๏ผˆ้žๅค‰ๅฝขๅž‹๏ผ‰ใ€๏ผ’ๅž‹๏ผˆๅ‘จ็”ฃๆœŸ่‡ดๆญปๅž‹๏ผ‰ใ€๏ผ“ๅž‹๏ผˆๅค‰ๅฝข้€ฒ่กŒๅž‹๏ผ‰ใ€๏ผ”ๅž‹๏ผˆไธญ็ญ‰็—‡ๅž‹๏ผ‰ใซๅŠ ใˆใฆใ€้ชจ้–“่†œ็Ÿณ็ฐๅŒ–ใƒป้Žๅฝขๆˆไปฎ้ชจใ‚’ไผดใ†ๅž‹๏ผˆ๏ผ•ๅž‹๏ผ‰ใ€ใใฎไป–ใฎๅž‹ใ€ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200873 - + + 274 + ้ชจๅฝขๆˆไธๅ…จ็—‡๏ผˆOsteogenesis imperfecta๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจ่„†ๅผฑๆ€งใซใ‚ˆใ‚‹ๆ˜“้ชจๆŠ˜ๆ€งใ‚„้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใซๅŠ ใˆใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ็ด„๏ผ’๏ฝž๏ผ“ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2010ๅนด็‰ˆใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃๅ›ฝ้š›ๅˆ†้กžใงใฏใ€Sillenceใซใ‚ˆใ‚‹๏ผ‘ๅž‹๏ผˆ้žๅค‰ๅฝขๅž‹๏ผ‰ใ€๏ผ’ๅž‹๏ผˆๅ‘จ็”ฃๆœŸ่‡ดๆญปๅž‹๏ผ‰ใ€๏ผ“ๅž‹๏ผˆๅค‰ๅฝข้€ฒ่กŒๅž‹๏ผ‰ใ€๏ผ”ๅž‹๏ผˆไธญ็ญ‰็—‡ๅž‹๏ผ‰ใซๅŠ ใˆใฆใ€้ชจ้–“่†œ็Ÿณ็ฐๅŒ–ใƒป้Žๅฝขๆˆไปฎ้ชจใ‚’ไผดใ†ๅž‹๏ผˆ๏ผ•ๅž‹๏ผ‰ใ€ใใฎไป–ใฎๅž‹ใ€ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200873 + Osteogenesis Imperfecta + ใ“ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ้ชจๅฝขๆˆไธๅ…จ็—‡ - + - - + ้ชจๅฝขๆˆไธๅ…จ็—‡ - - 275 - ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ ๏ผˆthanatophoric dysplasia๏ผ‰ใฏ1967ๅนดใซMaroteauxใ‚‰ใŒ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ—ใŸใ€‚โ€thanatophoricโ€ใจใฏdeath bearingใ€€๏ผˆ่‡ดๆญปๆ€ง๏ผ‰ใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚ฎใƒชใ‚ทใƒฃ่ชžใงใ‚ใ‚‹ใ€‚ไธปใช็‰นๅพดใฏ้•ท็ฎก้ชจ๏ผˆ็‰นใซไธŠ่…•้ชจใจๅคง่…ฟ้ชจ๏ผ‰ใฎ่‘—ๆ˜Žใช็Ÿญ็ธฎใงใ‚ใ‚‹ใ€‚็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญๅ—ๅฎนไฝ“๏ผ“้บไผๅญใฎ็‚น็ช็„ถๅค‰็•ฐใŒๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ใใฎX็ทšๆ‰€่ฆ‹ใ‹ใ‚‰ๅคง่…ฟ้ชจใŒๅฝŽๆ›ฒ๏ผˆๅ—่ฉฑๅ™จ็”จๅค‰ๅฝข๏ผ‰ใ—ใ€้ ญ่“‹้ชจใฎๅค‰ๅฝขใฎใชใ„๏ผ‘ๅž‹ใจใ€ๅคง่…ฟ้ชจใฎๅฝŽๆ›ฒใฏๅฐ‘ใชใใ€้ ญ่“‹้ชจใŒใ‚ฏใƒญใƒผใƒใƒผ่‘‰ๆง˜ใซๅค‰ๅฝขใ—ใŸ๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚ŒใซใŠใ„ใฆใ‚‚่‚‹้ชจใฎ็Ÿญ็ธฎใซใ‚ˆใ‚‹่ƒธ้ƒญไฝŽๅฝขๆˆใงใ€ใƒ™ใƒซ็Šถ่ƒธ้ƒญใจใชใ‚Šใ€้‡ๅบฆใฎๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ใพใŸๅทจๅคง้ ญ่“‹ใจๅ‰้ ญ้ƒจ็ชๅ‡บใ‚’็คบใ—ใ€้ก”้ขใฏๆฏ”่ผƒ็š„ไฝŽๅฝขๆˆใงใ‚ใ‚‹ใ€‚ - 1200874 - + + 275 + ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ ๏ผˆthanatophoric dysplasia๏ผ‰ใฏ1967ๅนดใซMaroteauxใ‚‰ใŒ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ—ใŸใ€‚โ€thanatophoricโ€ใจใฏdeath bearingใ€€๏ผˆ่‡ดๆญปๆ€ง๏ผ‰ใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚ฎใƒชใ‚ทใƒฃ่ชžใงใ‚ใ‚‹ใ€‚ไธปใช็‰นๅพดใฏ้•ท็ฎก้ชจ๏ผˆ็‰นใซไธŠ่…•้ชจใจๅคง่…ฟ้ชจ๏ผ‰ใฎ่‘—ๆ˜Žใช็Ÿญ็ธฎใงใ‚ใ‚‹ใ€‚็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญๅ—ๅฎนไฝ“๏ผ“้บไผๅญใฎ็‚น็ช็„ถๅค‰็•ฐใŒๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ใใฎX็ทšๆ‰€่ฆ‹ใ‹ใ‚‰ๅคง่…ฟ้ชจใŒๅฝŽๆ›ฒ๏ผˆๅ—่ฉฑๅ™จ็”จๅค‰ๅฝข๏ผ‰ใ—ใ€้ ญ่“‹้ชจใฎๅค‰ๅฝขใฎใชใ„๏ผ‘ๅž‹ใจใ€ๅคง่…ฟ้ชจใฎๅฝŽๆ›ฒใฏๅฐ‘ใชใใ€้ ญ่“‹้ชจใŒใ‚ฏใƒญใƒผใƒใƒผ่‘‰ๆง˜ใซๅค‰ๅฝขใ—ใŸ๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚ŒใซใŠใ„ใฆใ‚‚่‚‹้ชจใฎ็Ÿญ็ธฎใซใ‚ˆใ‚‹่ƒธ้ƒญไฝŽๅฝขๆˆใงใ€ใƒ™ใƒซ็Šถ่ƒธ้ƒญใจใชใ‚Šใ€้‡ๅบฆใฎๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ใพใŸๅทจๅคง้ ญ่“‹ใจๅ‰้ ญ้ƒจ็ชๅ‡บใ‚’็คบใ—ใ€้ก”้ขใฏๆฏ”่ผƒ็š„ไฝŽๅฝขๆˆใงใ‚ใ‚‹ใ€‚ + NANDO:1200874 + Thanatophoric dysplasia + ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ - - - + + TD ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ - - 275 - 1200875 - + + 275 + NANDO:1200875 + Thanatophoric dysplasia type 1 + ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†1ใŒใŸ ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹ - + + TD1 ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹ - - 275 - 1200876 - + + 275 + NANDO:1200876 + Thanatophoric dysplasia type 2 + ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹ - + + TD2 ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹ - - 276 - ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ท็—‡ใ‚’ๅ‘ˆใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใฎไปฃ่กจใงใ€ใŠใ‚ˆใ๏ผ’ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใง็™บ็”Ÿใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจX็ทšๅƒใ‹ใ‚‰่จบๆ–ญใฏๅฎนๆ˜“ใงใ‚ใ‚‹ใŒๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆˆไบบ่บซ้•ทใฏ็”ทๆ€งใง็ด„130cmใ€ๅฅณๆ€งใง็ด„125cmใจไฝŽใ่‘—ๆ˜Žใชๅ››่‚ข็Ÿญ็ธฎใฎใŸใ‚ใ€ๆ‚ฃ่€…ใฏๆ—ฅๅธธ็”Ÿๆดปใงๆง˜ใ€…ใชๅˆถ็ด„ใ‚’ใ†ใ‘ใ‚‹ใ€‚่„ŠๆŸฑ็ฎก็‹ญ็ช„ใฎใŸใ‚ไธญ้ซ˜ๅนดใซใชใ‚‹ใจไธกไธ‹่‚ข้บป็—บใ‚’ๅ‘ˆใ—ใŸใ‚Šใ€ไธ‹่‚ขใ‚ขใƒฉใ‚คใƒกใƒณใƒˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’็™บ็—‡ใ—ๆญฉ่กŒ้šœๅฎณใ‚’็”Ÿใ˜ใŸใ‚Šใ™ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ - 1200877 - + + 276 + ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ท็—‡ใ‚’ๅ‘ˆใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใฎไปฃ่กจใงใ€ใŠใ‚ˆใ๏ผ’ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใง็™บ็”Ÿใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจX็ทšๅƒใ‹ใ‚‰่จบๆ–ญใฏๅฎนๆ˜“ใงใ‚ใ‚‹ใŒๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆˆไบบ่บซ้•ทใฏ็”ทๆ€งใง็ด„130cmใ€ๅฅณๆ€งใง็ด„125cmใจไฝŽใ่‘—ๆ˜Žใชๅ››่‚ข็Ÿญ็ธฎใฎใŸใ‚ใ€ๆ‚ฃ่€…ใฏๆ—ฅๅธธ็”Ÿๆดปใงๆง˜ใ€…ใชๅˆถ็ด„ใ‚’ใ†ใ‘ใ‚‹ใ€‚่„ŠๆŸฑ็ฎก็‹ญ็ช„ใฎใŸใ‚ไธญ้ซ˜ๅนดใซใชใ‚‹ใจไธกไธ‹่‚ข้บป็—บใ‚’ๅ‘ˆใ—ใŸใ‚Šใ€ไธ‹่‚ขใ‚ขใƒฉใ‚คใƒกใƒณใƒˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’็™บ็—‡ใ—ๆญฉ่กŒ้šœๅฎณใ‚’็”Ÿใ˜ใŸใ‚Šใ™ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ + NANDO:1200877 + Achondroplasia + ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ + - + ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ - - 277 - ไธญๆžข็ฅž็ตŒ็ณปใ‚’้™คใใ€้ชจใ‚„่ƒธ้ƒจ๏ผˆ่‚บใ€็ธฆ้š”ใ€ๅฟƒ่‡“๏ผ‰ใ€่…น้ƒจ๏ผˆ่…น่…”ๅ†…ใ€่„พ่‡“๏ผ‰ใ€็šฎ่†šใ€็šฎไธ‹็ต„็น”ใชใฉๅ…จ่บซ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซ็•ฐๅธธใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎก็ต„็น”ใŒๆตธๆฝคใ™ใ‚‹ๅŽŸๅ› ไธๆ˜ŽใฎๅธŒๅฐ‘ๆ€ง้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใ€่‹ฅๅนด่€…ใซๅคšใ็™บ็—‡ใ™ใ‚‹ใŒๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใ‚„ไบˆๅพŒใฏๆง˜ใ€…ใงใ‚ใ‚‹ใŒใ€่ƒธ้ƒจใซ็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚้ชจๆบถ่งฃใ‚’่ตทใ“ใ™ใ‚ดใƒผใƒใƒ ็—…ใ‚‚ใ€้ชจ็—…ๅค‰ใ ใ‘ใงใชใๅŒๆง˜ใฎๅ†…่‡“็—…ๅค‰ใ‚’ๆŒใคๅ ดๅˆใŒใ‚ใ‚‹ใŸใ‚ใ€้กž็ธ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๆ™‚็‚นใงใฏ๏ผ‘ใคใฎ็–พๆ‚ฃใจใ—ใฆใจใ‚‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏไธ่ฆๅ‰‡ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใŒใ€ๅ†…็šฎ็ดฐ่ƒžใฎMIB-1ใฏ้™ฐๆ€งใง่…ซ็˜ๆ€งใฎๅข—ๆฎ–ใฏ็„กใ„ใ€‚ใพใŸ้‘‘ๅˆฅไธŠๅ•้กŒใจใชใ‚‹ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใใ€ไธ€ๆ–นใงใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏๅคš็™บๆ€งใƒปใณใพใ‚“ๆ€ง๏ผˆๅคš่‡“ๅ™จใซๅŠใถใ€ใƒชใƒณใƒ‘ๆถฒ่ฒฏ็•™ใ‚„ๅ‘จๅ›ฒใฎ็ต„็น”ใซๆตธๆฝคๅ‚พๅ‘ใŒใ‚ใ‚‹ใชใฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใชใŠใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผใ‚ดใƒผใƒใƒ ็—…ใฏใ€ใณใพใ‚“ๆ€งใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใ€ใ‚ดใƒผใƒใƒ ใƒปใ‚นใ‚ฟใ‚ฆใƒˆ็—‡ๅ€™็พคใ€ๅคง้‡้ชจๆบถ่งฃ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 1200878 - + + 277 + ไธญๆžข็ฅž็ตŒ็ณปใ‚’้™คใใ€้ชจใ‚„่ƒธ้ƒจ๏ผˆ่‚บใ€็ธฆ้š”ใ€ๅฟƒ่‡“๏ผ‰ใ€่…น้ƒจ๏ผˆ่…น่…”ๅ†…ใ€่„พ่‡“๏ผ‰ใ€็šฎ่†šใ€็šฎไธ‹็ต„็น”ใชใฉๅ…จ่บซ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซ็•ฐๅธธใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎก็ต„็น”ใŒๆตธๆฝคใ™ใ‚‹ๅŽŸๅ› ไธๆ˜ŽใฎๅธŒๅฐ‘ๆ€ง้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใ€่‹ฅๅนด่€…ใซๅคšใ็™บ็—‡ใ™ใ‚‹ใŒๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใ‚„ไบˆๅพŒใฏๆง˜ใ€…ใงใ‚ใ‚‹ใŒใ€่ƒธ้ƒจใซ็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚้ชจๆบถ่งฃใ‚’่ตทใ“ใ™ใ‚ดใƒผใƒใƒ ็—…ใ‚‚ใ€้ชจ็—…ๅค‰ใ ใ‘ใงใชใๅŒๆง˜ใฎๅ†…่‡“็—…ๅค‰ใ‚’ๆŒใคๅ ดๅˆใŒใ‚ใ‚‹ใŸใ‚ใ€้กž็ธ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๆ™‚็‚นใงใฏ๏ผ‘ใคใฎ็–พๆ‚ฃใจใ—ใฆใจใ‚‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏไธ่ฆๅ‰‡ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใŒใ€ๅ†…็šฎ็ดฐ่ƒžใฎMIB-1ใฏ้™ฐๆ€งใง่…ซ็˜ๆ€งใฎๅข—ๆฎ–ใฏ็„กใ„ใ€‚ใพใŸ้‘‘ๅˆฅไธŠๅ•้กŒใจใชใ‚‹ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใใ€ไธ€ๆ–นใงใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏๅคš็™บๆ€งใƒปใณใพใ‚“ๆ€ง๏ผˆๅคš่‡“ๅ™จใซๅŠใถใ€ใƒชใƒณใƒ‘ๆถฒ่ฒฏ็•™ใ‚„ๅ‘จๅ›ฒใฎ็ต„็น”ใซๆตธๆฝคๅ‚พๅ‘ใŒใ‚ใ‚‹ใชใฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใชใŠใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผใ‚ดใƒผใƒใƒ ็—…ใฏใ€ใณใพใ‚“ๆ€งใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใ€ใ‚ดใƒผใƒใƒ ใƒปใ‚นใ‚ฟใ‚ฆใƒˆ็—‡ๅ€™็พคใ€ๅคง้‡้ชจๆบถ่งฃ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200878 + Lymphangiomatosis / Gorham-Stout Disease + ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†๏ผใ”ใƒผใฏใ‚€ใณใ‚‡ใ† ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—… - + Lymphangiomatosis/Gorham disease - ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—… - - - 277 - 1200879 - - Lymphangiomatosis - ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ - - - - - Generalized lymphatic anomaly - - ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ - - - 277 - 1200880 - - Gorham disease - ใ‚ดใƒผใƒใƒ ็—… - - - - - Gorham-Stout disease - ใ‚ดใƒผใƒใƒ ็—… - - - 278 - ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ใฏ้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจใซๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎใƒชใƒณใƒ‘็ฎกๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€ใ‚ดใƒผใƒใƒ ็—…๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผ‰ใจใฏ็•ฐใชใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธญๅฟƒใซๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜คๆ€ง็—…ๅค‰ใงใ€ๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใ„ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญใƒปๆฒป็™‚ใซๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็‰นใซ็—…ๅค‰ใŒๅคงใใๅบƒ็ฏ„ๅ›ฒใซๅบƒใŒใ‚‹ใ‚‚ใฎใฏ้›ฃๆฒปๆ€งใงใ€ๆฉŸ่ƒฝ้ขใฎใฟใชใ‚‰ใšๆ•ดๅฎน้ขใ‹ใ‚‰ใ‚‚ๆ‚ฃ่€…ใฎQOLใฏ่‘—ใ—ใๅˆถ้™ใ•ใ‚Œใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใ€่…น่…”ใƒปๅพŒ่…น่†œๅ†…ใ€ๅ››่‚ขใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคง็—…ๅค‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ็ฅž็ตŒใ‚„ไป–ใฎไธป่ฆใช่„ˆ็ฎกใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ใŒๅ›ฐ้›ฃใจใชใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไป–้ƒจไฝใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚็—…ๅค‰ๅ†…ใฎใƒชใƒณใƒ‘ๅšข่ƒžใฎๅคงใใ•ใ‚„็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Šไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅฎŒๆฒปใฏใปใผไธๅฏ่ƒฝใงใ€ๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ - 1200881 - - Giant Lymphatic Malformation ๏ผˆCervicofacial Lesion๏ผ‰ + ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—… + + + NANDO:1200879 + obsolete Lymphangiomatosis + obsolete ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ† + obsolete ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ + + true + obsolete ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ + + + NANDO:1200880 + obsolete Gorham disease + obsolete ใ”ใƒผใฏใ‚€ใณใ‚‡ใ† + obsolete ใ‚ดใƒผใƒใƒ ็—… + + true + obsolete ใ‚ดใƒผใƒใƒ ็—… + + + 278 + ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ใฏ้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจใซๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎใƒชใƒณใƒ‘็ฎกๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€ใ‚ดใƒผใƒใƒ ็—…๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผ‰ใจใฏ็•ฐใชใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธญๅฟƒใซๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜คๆ€ง็—…ๅค‰ใงใ€ๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใ„ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญใƒปๆฒป็™‚ใซๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็‰นใซ็—…ๅค‰ใŒๅคงใใๅบƒ็ฏ„ๅ›ฒใซๅบƒใŒใ‚‹ใ‚‚ใฎใฏ้›ฃๆฒปๆ€งใงใ€ๆฉŸ่ƒฝ้ขใฎใฟใชใ‚‰ใšๆ•ดๅฎน้ขใ‹ใ‚‰ใ‚‚ๆ‚ฃ่€…ใฎQOLใฏ่‘—ใ—ใๅˆถ้™ใ•ใ‚Œใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใ€่…น่…”ใƒปๅพŒ่…น่†œๅ†…ใ€ๅ››่‚ขใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคง็—…ๅค‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ็ฅž็ตŒใ‚„ไป–ใฎไธป่ฆใช่„ˆ็ฎกใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ใŒๅ›ฐ้›ฃใจใชใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไป–้ƒจไฝใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚็—…ๅค‰ๅ†…ใฎใƒชใƒณใƒ‘ๅšข่ƒžใฎๅคงใใ•ใ‚„็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Šไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅฎŒๆฒปใฏใปใผไธๅฏ่ƒฝใงใ€ๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ + NANDO:1200881 + + Giant lymphatic malformation (cervicofacial lesion) + ใใ‚‡ใ ใ„ใ‚Šใ‚“ใฑใ‹ใ‚“ใใ‘ใ„๏ผˆใ‘ใ„ใถใŒใ‚“ใ‚ใ‚“ใณใ‚‡ใ†ใธใ‚“๏ผ‰ ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ - + Huge Lymphatic malformation Huge Lymphatic malformation with cervicofacial lesion + ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ - - 279 - ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎๅ…จ้ ˜ๅŸŸใซใณใพใ‚“ๆ€ง้€ฃ็ถšๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใซ็ตฑไธ€ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€งๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ไธๅฏ่ƒฝใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ - 1200882 - - Giant Venous Malformation ๏ผˆCervical, Oral and Oropharyngeal Diffuse Lesion๏ผ‰ + + 279 + ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎๅ…จ้ ˜ๅŸŸใซใณใพใ‚“ๆ€ง้€ฃ็ถšๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใซ็ตฑไธ€ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€งๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ไธๅฏ่ƒฝใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ + NANDO:1200882 + + Giant venous malformation (cervical, oral and oropharyngeal diffuse lesion) + ใใ‚‡ใ ใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ‘ใ„ใถใ“ใ†ใใ†ใ„ใ‚“ใจใ†ใณใพใ‚“ใ›ใ„ใณใ‚‡ใ†ใธใ‚“๏ผ‰ ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ - + Huge venous malformation Huge venous malformation with cervical, oral and pharyngeal diffuse lesion ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ - - 280 - ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจๅˆใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขใฎๅบƒ็ฏ„ๅ›ฒใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎๅ‹•้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆAVM๏ผ‰ใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก๏ผˆใ‚ทใƒฃใƒณใƒˆ๏ผ‰ใ‚’ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†้ซ˜ๆต้€Ÿ่ก€็ฎกๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆไธ€่‚ขใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€้‡ๅบฆใฎๆŒ็ถš็š„็–ผ็—›ใ€ๆ‚ฃ่‚ขใฎ่™š่ก€ๅฃŠๆญปใ€ๅ››่‚ขๆฉŸ่ƒฝไธๅ…จใชใฉใ‚’ๆฅใ™ใ€‚ใ•ใ‚‰ใซไธก่€…ใจใ‚‚ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใงใฏ็—…ๅค‰ใฎๅ†็™บ้€ฒ่กŒใŒๆ—ฉใใ€ๆฒป็™‚ๅŠนๆžœใฏไธ€ๆ™‚็š„ใจใชใ‚Šใ€ใ‚€ใ—ใ‚ๆ‚ชๅŒ–ใซใ„ใŸใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎๅฐ็—…ๅค‰ใงใฏๆ‚ฃ่‚ขๅˆ‡ๆ–ญใซใ‚ˆใ‚Š็—…ๅค‰้™คๅŽปใŒๅฏ่ƒฝใจใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏ่‚ก้–ข็ฏ€ใ‚„่‚ฉ้–ข็ฏ€ไป˜่ฟ‘ใพใง็—…ๅค‰ใŒๅŠใถใŸใ‚ๆ‚ฃ่‚ขๅˆ‡ๆ–ญ่ก“่‡ชไฝ“ใซ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใฎๅฑ้™บๆ€งใŒใ‚ใ‚Šใ€ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๅˆ‡ๆ–ญไธ่ƒฝใงใ‚ใ‚‹ใ“ใจใฏ่‡ชๆ˜Žใงใ‚ใ‚Šใ€ๅบƒ็ฏ„ๅ›ฒๅˆ‡้™คใฏ่‡ดๆญป็š„ๅ‡บ่ก€ใ‚„้ก”้ขใƒป้ผป่…”ใƒปๅฃ่…”ใƒป้ š้ƒจใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ใ€ใ“ใ‚Œใ‚‚ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ใชใŠ่„ณ๏ฝฅ่„Š้ซ„ใจใ„ใฃใŸไธญๆžข็ฅž็ตŒ็ณปใŒไธปไฝ“ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใใ‚Œไปฅๅค–ใฎ้ƒจไฝใจใฏ่จบๆ–ญ๏ฝฅ็ตŒ้Žใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใฃใฆใŠใ‚Šใ€ๆŒ‡ๅฎš้›ฃ็—…ใจใ—ใฆใฏ้ š้ƒจ้ก”้ขใƒปๅ››่‚ขใฎๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ - 1200883 - - Giant Arteriovenous Malformation ๏ผˆCervicofacial / Limb Lesion๏ผ‰ + + 280 + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจๅˆใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขใฎๅบƒ็ฏ„ๅ›ฒใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎๅ‹•้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆAVM๏ผ‰ใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก๏ผˆใ‚ทใƒฃใƒณใƒˆ๏ผ‰ใ‚’ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†้ซ˜ๆต้€Ÿ่ก€็ฎกๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆไธ€่‚ขใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€้‡ๅบฆใฎๆŒ็ถš็š„็–ผ็—›ใ€ๆ‚ฃ่‚ขใฎ่™š่ก€ๅฃŠๆญปใ€ๅ››่‚ขๆฉŸ่ƒฝไธๅ…จใชใฉใ‚’ๆฅใ™ใ€‚ใ•ใ‚‰ใซไธก่€…ใจใ‚‚ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใงใฏ็—…ๅค‰ใฎๅ†็™บ้€ฒ่กŒใŒๆ—ฉใใ€ๆฒป็™‚ๅŠนๆžœใฏไธ€ๆ™‚็š„ใจใชใ‚Šใ€ใ‚€ใ—ใ‚ๆ‚ชๅŒ–ใซใ„ใŸใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎๅฐ็—…ๅค‰ใงใฏๆ‚ฃ่‚ขๅˆ‡ๆ–ญใซใ‚ˆใ‚Š็—…ๅค‰้™คๅŽปใŒๅฏ่ƒฝใจใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏ่‚ก้–ข็ฏ€ใ‚„่‚ฉ้–ข็ฏ€ไป˜่ฟ‘ใพใง็—…ๅค‰ใŒๅŠใถใŸใ‚ๆ‚ฃ่‚ขๅˆ‡ๆ–ญ่ก“่‡ชไฝ“ใซ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใฎๅฑ้™บๆ€งใŒใ‚ใ‚Šใ€ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๅˆ‡ๆ–ญไธ่ƒฝใงใ‚ใ‚‹ใ“ใจใฏ่‡ชๆ˜Žใงใ‚ใ‚Šใ€ๅบƒ็ฏ„ๅ›ฒๅˆ‡้™คใฏ่‡ดๆญป็š„ๅ‡บ่ก€ใ‚„้ก”้ขใƒป้ผป่…”ใƒปๅฃ่…”ใƒป้ š้ƒจใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ใ€ใ“ใ‚Œใ‚‚ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ใชใŠ่„ณ๏ฝฅ่„Š้ซ„ใจใ„ใฃใŸไธญๆžข็ฅž็ตŒ็ณปใŒไธปไฝ“ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใใ‚Œไปฅๅค–ใฎ้ƒจไฝใจใฏ่จบๆ–ญ๏ฝฅ็ตŒ้Žใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใฃใฆใŠใ‚Šใ€ๆŒ‡ๅฎš้›ฃ็—…ใจใ—ใฆใฏ้ š้ƒจ้ก”้ขใƒปๅ››่‚ขใฎๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ + NANDO:1200883 + + Huge arteriovenous malformation with cervicofacial or limb lesion + ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ‘ใ„ใถใŒใ‚“ใ‚ใ‚“ใพใŸใฏใ—ใ—ใณใ‚‡ใ†ใธใ‚“๏ผ‰ ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰ - - Huge arteriovenous malformation - Huge arteriovenous malformation with cervicofacial or limb lesion + + gigantic arteriovenous malformation (cervicofacial/limb lesion) ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰ - - 281 - ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€่ปŸ้ƒจใƒปไฝ“่กจใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ˜็ด”ๅž‹ใฎไธญใซใฏ้™่„ˆๅฅ‡ๅฝขใ€ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ็˜ป๏ผ‰ใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใŒๅซใพใ‚Œใ€ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆๆททๅˆๅž‹่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใฏใ“ใ‚Œใ‚‰ใฎ็ต„ใฟๅˆใ‚ใ›ใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่‡ช็„ถ้€€็ธฎใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒใ—ใ€็–ผ็—›ใ‚„ๆฝฐ็˜ใ€ๆ‚ฃ่‚ขใฎๆˆ้•ท็•ฐๅธธใ€ๆฉŸ่ƒฝ้šœๅฎณใ€ๆ•ดๅฎนไธŠใฎๅ•้กŒ็ญ‰ใซใ‚ˆใ‚Š้•ทๆœŸใซใ‚ใŸใ‚Šๆ‚ฃ่€…ใฎQOLใ‚’ๆใชใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซใฏใ€ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹็—…ๅค‰ใ‚„ใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹็—…ๅค‰ใชใฉๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅ‰่€…ใจๅพŒ่€…ใงใฏ็—…ๆ…‹ใ‚„ๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚‹ใ€‚ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€ๅคๅ…ธ็š„ใซใฏใ€ๅ››่‚ขใฎ็‰‡ๅด่‚ฅๅคงใ€็šฎ่†šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ไบŒๆฌกๆ€ง้™่„ˆ็˜คใ€ใ‚’ไธ‰ๅพดใจใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใฏไฝŽๆต้€Ÿๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆ้™่„ˆๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใ€้ซ˜ๆต้€Ÿ็—…ๅค‰๏ผˆๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจๅˆ†ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใจใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใ‚’ๅŽณๅฏ†ใซๅŒบๅˆ†ใ™ใ‚‹ใ“ใจใฏ็‰นใซๅฐๅ…ไพ‹ใงใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆœฌๅฏพ่ฑก็–พ็—…ใจใ—ใฆใฏใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚ๅˆๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใ‚„ๅทจๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใชใฉใฎๆŒ‡่ถพๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่„š้•ทๅทฎใŒ้ซ˜ๅบฆใซใชใ‚‹ใจ่ท›่กŒใ‚„ไปฃๅ„Ÿๆ€ง่„ŠๆคŽๅดๅฝŽ็—‡ใ‚’ๆฅใ™ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฏใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚Šใ€ๅ‡ๅ›บ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“๏ผˆ้ชจ็ซฏ็ทšๆˆ้•ทๆŠ‘ๅˆถ่ก“ใ€้ชจๅปถ้•ท่ก“๏ผ‰ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใƒปๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚ - 1200884 - + + 281 + ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€่ปŸ้ƒจใƒปไฝ“่กจใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ˜็ด”ๅž‹ใฎไธญใซใฏ้™่„ˆๅฅ‡ๅฝขใ€ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ็˜ป๏ผ‰ใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใŒๅซใพใ‚Œใ€ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆๆททๅˆๅž‹่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใฏใ“ใ‚Œใ‚‰ใฎ็ต„ใฟๅˆใ‚ใ›ใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่‡ช็„ถ้€€็ธฎใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒใ—ใ€็–ผ็—›ใ‚„ๆฝฐ็˜ใ€ๆ‚ฃ่‚ขใฎๆˆ้•ท็•ฐๅธธใ€ๆฉŸ่ƒฝ้šœๅฎณใ€ๆ•ดๅฎนไธŠใฎๅ•้กŒ็ญ‰ใซใ‚ˆใ‚Š้•ทๆœŸใซใ‚ใŸใ‚Šๆ‚ฃ่€…ใฎQOLใ‚’ๆใชใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซใฏใ€ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹็—…ๅค‰ใ‚„ใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹็—…ๅค‰ใชใฉๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅ‰่€…ใจๅพŒ่€…ใงใฏ็—…ๆ…‹ใ‚„ๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚‹ใ€‚ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€ๅคๅ…ธ็š„ใซใฏใ€ๅ››่‚ขใฎ็‰‡ๅด่‚ฅๅคงใ€็šฎ่†šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ไบŒๆฌกๆ€ง้™่„ˆ็˜คใ€ใ‚’ไธ‰ๅพดใจใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใฏไฝŽๆต้€Ÿๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆ้™่„ˆๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใ€้ซ˜ๆต้€Ÿ็—…ๅค‰๏ผˆๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจๅˆ†ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใจใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใ‚’ๅŽณๅฏ†ใซๅŒบๅˆ†ใ™ใ‚‹ใ“ใจใฏ็‰นใซๅฐๅ…ไพ‹ใงใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆœฌๅฏพ่ฑก็–พ็—…ใจใ—ใฆใฏใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚ๅˆๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใ‚„ๅทจๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใชใฉใฎๆŒ‡่ถพๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่„š้•ทๅทฎใŒ้ซ˜ๅบฆใซใชใ‚‹ใจ่ท›่กŒใ‚„ไปฃๅ„Ÿๆ€ง่„ŠๆคŽๅดๅฝŽ็—‡ใ‚’ๆฅใ™ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฏใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚Šใ€ๅ‡ๅ›บ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“๏ผˆ้ชจ็ซฏ็ทšๆˆ้•ทๆŠ‘ๅˆถ่ก“ใ€้ชจๅปถ้•ท่ก“๏ผ‰ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใƒปๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚ + NANDO:1200884 + Klippel-Trenaunay-Weber syndrome + ใใ‚Šใฃใบใ‚‹ใƒปใจใ‚Œใฎใญใƒผใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค + - + ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค - - 282 - ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€๏ผˆCongenital dyserythropoietic anemia๏ผšCDA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ๅŠใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ - 1200885 - + + 282 + ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€๏ผˆCongenital dyserythropoietic anemia๏ผšCDA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ๅŠใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ + NANDO:1200885 + Congenital dyserythropoietic anemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ + - - + + + CDA + Congenital dyserythropoietic anaemia ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ - - 282 - 1200886 - + + 282 + NANDO:1200886 + Congenital dyserythropoietic anemia type I + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท1 ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I - - + + + Congenital dyserythropoietic anaemia type I ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I - - 282 - 1200887 - + + 282 + NANDO:1200887 + Congenital dyserythropoietic anemia type II + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท2 ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II - + + Congenital dyserythropoietic anaemia type II ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II - - 282 - 1200888 - + + 282 + NANDO:1200888 + Congenital dyserythropoietic anemia type III + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท3 ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III - + + Congenital dyserythropoietic aanemia type III ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III - - 283 - ่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ๅŠใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็—…ๅ› ใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚่ตค่Šฝ็ƒ็™†ใฎ็—…ๅž‹ๅˆ†้กžใจใ—ใฆๅคงใใใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ - 1200889 - + + 283 + ่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ๅŠใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็—…ๅ› ใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚่ตค่Šฝ็ƒ็™†ใฎ็—…ๅž‹ๅˆ†้กžใจใ—ใฆๅคงใใใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200889 + Acquired pure red cell aplasia + ใ“ใ†ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ† ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™† + - - + ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™† - - 284 - ่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ด„ๅŠๆ•ฐใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200890 - - Diamond-Blackfan Anaemia + + 284 + ่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ด„ๅŠๆ•ฐใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200890 + + Diamond-Blackfan anemia + ใ ใ„ใ‚ใ‚‚ใ‚“ใฉใƒปใถใ‚‰ใฃใใตใใ‚“ใฒใ‚“ใ‘ใค ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€ - + + Diamond-Blackfan anaemia + ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€ - - 285 - ๆŸ“่‰ฒไฝ“ใฎ่„†ๅผฑๆ€งใ‚’่ƒŒๆ™ฏใซใ€๏ผ‘)้€ฒ่กŒๆ€งๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใ‚„็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€๏ผ“๏ผ‰่บซไฝ“ๅฅ‡ๅฝขใ€๏ผ”๏ผ‰ๅ›บๅฝขใŒใ‚“ใฎๅˆไฝตใ‚’ๆฅใ™ใ“ใจใฎใ‚ใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200891 - + + 285 + ๆŸ“่‰ฒไฝ“ใฎ่„†ๅผฑๆ€งใ‚’่ƒŒๆ™ฏใซใ€๏ผ‘)้€ฒ่กŒๆ€งๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใ‚„็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€๏ผ“๏ผ‰่บซไฝ“ๅฅ‡ๅฝขใ€๏ผ”๏ผ‰ๅ›บๅฝขใŒใ‚“ใฎๅˆไฝตใ‚’ๆฅใ™ใ“ใจใฎใ‚ใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200891 + Fanconi anemia + ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ - - + + - - - + + + Fanconi anaemia ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ - - 286 - ้ชจ้ซ„ใซใŠใ„ใฆใ€ๆ ธใฎๅ‘จๅ›ฒใซ็’ฐ็Šถใซ้‰„ใŒๆฒˆ็€ใ—ใŸ่ตค่Šฝ็ƒ๏ผˆ็’ฐ็Šถ้‰„่Šฝ็ƒ๏ผ‰ใฎๅ‡บ็พใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ฒง่ก€ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใซไปฃ่กจใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฎ้‘‘ๅˆฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ„ใฆใฏ่ตค่ก€็ƒใซใŠใ‘ใ‚‹ใƒ˜ใƒ ๅˆๆˆใฎๅˆ็™บ้…ต็ด ใงใ‚ใ‚‹่ตค่ก€็ƒๅž‹ใ‚ขใƒŸใƒŽใƒฌใƒ–ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใฏXๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€งใฎ้บไผๅฝขๅผใ‚’ใจใ‚Šใ€็”ทๅ…ใซใฎใฟใซ็™บ็—‡ใ™ใ‚‹ใ€‚ - 1200892 - + + 286 + ้ชจ้ซ„ใซใŠใ„ใฆใ€ๆ ธใฎๅ‘จๅ›ฒใซ็’ฐ็Šถใซ้‰„ใŒๆฒˆ็€ใ—ใŸ่ตค่Šฝ็ƒ๏ผˆ็’ฐ็Šถ้‰„่Šฝ็ƒ๏ผ‰ใฎๅ‡บ็พใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ฒง่ก€ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใซไปฃ่กจใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฎ้‘‘ๅˆฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ„ใฆใฏ่ตค่ก€็ƒใซใŠใ‘ใ‚‹ใƒ˜ใƒ ๅˆๆˆใฎๅˆ็™บ้…ต็ด ใงใ‚ใ‚‹่ตค่ก€็ƒๅž‹ใ‚ขใƒŸใƒŽใƒฌใƒ–ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใฏXๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€งใฎ้บไผๅฝขๅผใ‚’ใจใ‚Šใ€็”ทๅ…ใซใฎใฟใซ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:1200892 + Hereditary sideroblastic anemia + ใ„ใงใ‚“ใ›ใ„ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ - - + + + Hereditary sideroblastic anaemia ้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ - - 287 - ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พคใฏใ€MYH9้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใฎใฒใจใคใงใ€ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ€้€ฒ่กŒๆ€ง่…Ž้šœๅฎณ๏ผˆๅทฃ็Šถ็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใชใฉ๏ผ‰ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็™ฝๅ†…้šœใ‚’ใจใ‚‚ใชใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200893 - + + 287 + ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พคใฏใ€MYH9้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใฎใฒใจใคใงใ€ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ€้€ฒ่กŒๆ€ง่…Ž้šœๅฎณ๏ผˆๅทฃ็Šถ็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใชใฉ๏ผ‰ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็™ฝๅ†…้šœใ‚’ใจใ‚‚ใชใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200893 + Epstein syndrome + ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค - + + - + + Epstein็—‡ๅ€™็พค - ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค - - 287 - 1200894 - - severe Epstein syndrome + + 287 + NANDO:1200894 + + Severe Epstein syndrome + ใ•ใ„ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค - + ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค - - 287 - 1200895 - + + 287 + NANDO:1200895 + + Moderate Epstein syndrome + ใกใ‚…ใ†ใจใ†ใ—ใ‚‡ใ†ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค - - - - 288 - ่ก€ๆถฒใŒๅ‡ๅ›บใ™ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใงใ‚ใ‚‹ๅ‡ๅ›บๅ› ๅญใŒใ€ๅ…ˆๅคฉๆ€งใ‚„้บไผๆ€งใงใฏใชใ„็†็”ฑใง่‘—ใ—ใๆธ›ๅฐ‘ใ™ใ‚‹ใŸใ‚ใ€ๆญข่ก€ใฎใŸใ‚ใฎๆญข่ก€ๆ “ใŒใงใใซใใใชใฃใŸใ‚Šใ€ๅผฑใใชใฃใฆ็ฐกๅ˜ใซๅฃŠใ‚Œใ‚„ใ™ใใชใ‚Šใ€่‡ช็„ถใซใ‚ใ‚‹ใ„ใฏ่ปฝใ„ๆ‰“ๆ’ฒใชใฉใงใ•ใˆ้‡ใ„ๅ‡บ่ก€ใ‚’่ตทใ“ใ™็–พ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆฌ ไนใ™ใ‚‹ๅ‡ๅ›บๅ› ๅญใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€๏ผ‘๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXIII๏ผ13ๅ› ๅญ๏ผˆF13๏ผ‰ๆฌ ไน็—‡๏ผˆๆ—ง็งฐ๏ผš่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII๏ผ‰ใ€ใ€๏ผ’๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌVIII๏ผ8ๅ› ๅญ๏ผˆF8๏ผ‰ๆฌ ไน็—‡๏ผˆๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A๏ผ‰ใ€ใ€๏ผ“๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆvon Willebrand factor๏ผšVWF๏ผ‰ๆฌ ไน็—‡๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…๏ผˆvon Willebrand Disease๏ผšVWD๏ผ‰๏ผ‰ใ€ใ€๏ผ”๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌV๏ผ5ๅ› ๅญ๏ผˆF5๏ผ‰ๆฌ ไน็—‡๏ผˆใ„ใ‚ใ‚†ใ‚‹็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ๏ผ‰ใ€ใฎ๏ผ”็–พ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ - 1200896 - + + ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค + + + 288 + ่ก€ๆถฒใŒๅ‡ๅ›บใ™ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใงใ‚ใ‚‹ๅ‡ๅ›บๅ› ๅญใŒใ€ๅ…ˆๅคฉๆ€งใ‚„้บไผๆ€งใงใฏใชใ„็†็”ฑใง่‘—ใ—ใๆธ›ๅฐ‘ใ™ใ‚‹ใŸใ‚ใ€ๆญข่ก€ใฎใŸใ‚ใฎๆญข่ก€ๆ “ใŒใงใใซใใใชใฃใŸใ‚Šใ€ๅผฑใใชใฃใฆ็ฐกๅ˜ใซๅฃŠใ‚Œใ‚„ใ™ใใชใ‚Šใ€่‡ช็„ถใซใ‚ใ‚‹ใ„ใฏ่ปฝใ„ๆ‰“ๆ’ฒใชใฉใงใ•ใˆ้‡ใ„ๅ‡บ่ก€ใ‚’่ตทใ“ใ™็–พ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆฌ ไนใ™ใ‚‹ๅ‡ๅ›บๅ› ๅญใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€๏ผ‘๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXIII๏ผ13ๅ› ๅญ๏ผˆF13๏ผ‰ๆฌ ไน็—‡๏ผˆๆ—ง็งฐ๏ผš่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII๏ผ‰ใ€ใ€๏ผ’๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌVIII๏ผ8ๅ› ๅญ๏ผˆF8๏ผ‰ๆฌ ไน็—‡๏ผˆๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A๏ผ‰ใ€ใ€๏ผ“๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆvon Willebrand factor๏ผšVWF๏ผ‰ๆฌ ไน็—‡๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…๏ผˆvon Willebrand Disease๏ผšVWD๏ผ‰๏ผ‰ใ€ใ€๏ผ”๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌV๏ผ5ๅ› ๅญ๏ผˆF5๏ผ‰ๆฌ ไน็—‡๏ผˆใ„ใ‚ใ‚†ใ‚‹็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ๏ผ‰ใ€ใฎ๏ผ”็–พ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ + NANDO:1200896 + autoimmune acquired coagulation factor deficiency + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ - + AiCFD + ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ - - 288 - 1200897 - - Autoimmune Hemorrhaphilia XIII/13 + + 288 + NANDO:1200897 + + Autoimmune hemorrhaphilia XIII/13 + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„13/13ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡ - - + + AH13 + Autoimmune haemorrhaphilia XIII/13 + ่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII + ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡ - - 288 - 1200898 - + + 288 + NANDO:1200898 + Acquired hemophilia A + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„8/8ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡ - - + + + Acquired haemophilia A ๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A + ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡ - - 288 - 1200899 - + + 288 + NANDO:1200899 + Acquired von Willebrand disease - ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ•ใ‚™ใƒฉใƒณใƒˆใ‚™ๅ› ๅญๆฌ ไน็—‡ + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใตใ‰ใ‚“ใ†ใƒใ‚‹ใถใ‚‰ใ‚“ใฉใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† + ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญๆฌ ไน็—‡ - + AVWD AVWD ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—… - ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ•ใ‚™ใƒฉใƒณใƒˆใ‚™ๅ› ๅญๆฌ ไน็—‡ + ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญๆฌ ไน็—‡ - - 288 - 1200900 - + + 288 + NANDO:1200900 + Acquired Factor V Inhibitor + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„5/5ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡ - + AF5D + ็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ + ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งF5ๆฌ ไน็—‡ ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡ - - 289 - ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€๏ผˆCronkhite-canada๏ผ‰็—‡ๅ€™็พคใฏใ€ๆถˆๅŒ–็ฎก๏ผˆ็‰นใซ่ƒƒใƒปๅคง่…ธ๏ผ‰ใซๅคšๆ•ฐใฎ้ž่…ซ็˜ๆ€งใƒใƒชใƒผใƒ—ใŒ็™บ็”Ÿใ™ใ‚‹้ž้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็—‡็Šถ๏ผˆ่„ฑๆฏ›ใƒป็ˆช็”ฒ่Ž็ธฎใƒป็šฎ่†š่‰ฒ็ด ๆฒˆ็€๏ผ‰ใ‚’ไผดใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚„่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ‚’้ซ˜็Ž‡ใซไผดใ†ใ€‚ไธญ้ซ˜ๅนดใฎ็”ทๆ€งใซๅคšใ„ใ€‚ไธ–็•Œ็š„ใซๅธŒๅฐ‘ใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅ ฑๅ‘Šใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚ - 1200901 - + + 289 + ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€๏ผˆCronkhite-canada๏ผ‰็—‡ๅ€™็พคใฏใ€ๆถˆๅŒ–็ฎก๏ผˆ็‰นใซ่ƒƒใƒปๅคง่…ธ๏ผ‰ใซๅคšๆ•ฐใฎ้ž่…ซ็˜ๆ€งใƒใƒชใƒผใƒ—ใŒ็™บ็”Ÿใ™ใ‚‹้ž้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็—‡็Šถ๏ผˆ่„ฑๆฏ›ใƒป็ˆช็”ฒ่Ž็ธฎใƒป็šฎ่†š่‰ฒ็ด ๆฒˆ็€๏ผ‰ใ‚’ไผดใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚„่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ‚’้ซ˜็Ž‡ใซไผดใ†ใ€‚ไธญ้ซ˜ๅนดใฎ็”ทๆ€งใซๅคšใ„ใ€‚ไธ–็•Œ็š„ใซๅธŒๅฐ‘ใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅ ฑๅ‘Šใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚ + NANDO:1200901 + Cronkhite-Canada syndrome + ใใ‚ใ‚“ใ‹ใ„ใจใƒปใ‹ใชใ ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค - + ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค - - 290 - ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€่‹ฅๅนดๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฏไธญๅฟƒ้™่„ˆๆ „้คŠ้‡ๆณ•ไปฅๅค–ใฎใ‚ใ‚‰ใ‚†ใ‚‹ๆฒป็™‚ๆณ•ใซๆŠตๆŠ—ๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ - 1200902 - - Nonspecific Multiple Ulcers of Small Intestine + + 290 + ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€่‹ฅๅนดๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฏไธญๅฟƒ้™่„ˆๆ „้คŠ้‡ๆณ•ไปฅๅค–ใฎใ‚ใ‚‰ใ‚†ใ‚‹ๆฒป็™‚ๆณ•ใซๆŠตๆŠ—ๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200902 + + Chronic nonspecific multiple ulcers of the small intestine + ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ† ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ + - + Chronic nonspecific multiple ulcers of the small intestine ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ - - 291 - ่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10๏ผ…็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 1200903 - + + 291 + ่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10๏ผ…็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:1200903 + Hirschsprung disease + ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - + - - Hirschsprung Disease ๏ผˆEntire Colon type / Extensive type๏ผ‰ - + + Hirschsprung Disease (Entire Colon type / Extensive type) ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 291 - 1200904 - - Short-Segment Hirschsprung'sย Disease + + 291 + NANDO:1200904 + + Short-segment hirschsprung's disease + ใกใ‚‡ใใกใ‚‡ใ†ใ‹ใถใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† ็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - + + ็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 291 - 1200905 - + + 291 + NANDO:1200905 + + Rectosigmoid Hirschsprung's disease S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - rectosigmoid Hirschsprung'sย disease + ใˆใ™ใ˜ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† - + + S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 291 - 1200906 - - Long-segment Hirschsprung'sย disease + + 291 + NANDO:1200906 + + Long-segment Hirschsprung's disease + ใ•ใ‚†ใ†ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - + + ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 291 - 1200907 - + + 291 + NANDO:1200907 + Entire colon Hirschsprung disease + ใœใ‚“ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - + + ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 291 - 1200908 - + + 291 + NANDO:1200908 + Extensive aganglionosis Hirschsprung disease + ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - + + ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 292 - ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏไฝŽๅฝขๆˆใง็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่…Ÿๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ€€็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ15๏ฝž20ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๆ€งๅˆฅใงใฏใ€่‹ฅๅนฒๅฅณๅ…ใซๅคšใ„ใ€‚ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€229ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„20ไธ‡ใฎๅ‡บ็”Ÿใซ1ไบบใงใ‚ใฃใŸใ€‚ - 1200909 - + + 292 + ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏไฝŽๅฝขๆˆใง็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่…Ÿๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ€€็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ15๏ฝž20ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๆ€งๅˆฅใงใฏใ€่‹ฅๅนฒๅฅณๅ…ใซๅคšใ„ใ€‚ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€229ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„20ไธ‡ใฎๅ‡บ็”Ÿใซ1ไบบใงใ‚ใฃใŸใ€‚ + NANDO:1200909 + Cloacal exstrophy + ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ† ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ + - + ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ - - 293 - ็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่…Ÿใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ๏ผ•๏ฝž๏ผ™้€ฑใซใ‹ใ‘ใฆ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่…Ÿใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่…Ÿๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ๏ผ–๏ฝž10ไธ‡ใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ466ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„10ไธ‡ใฎๅ‡บ็”Ÿใซ๏ผ‘ไบบใงใ‚ใฃใŸใ€‚ - 1200910 - + + 293 + ็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่…Ÿใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ๏ผ•๏ฝž๏ผ™้€ฑใซใ‹ใ‘ใฆ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่…Ÿใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่…Ÿๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ๏ผ–๏ฝž10ไธ‡ใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ466ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„10ไธ‡ใฎๅ‡บ็”Ÿใซ๏ผ‘ไบบใงใ‚ใฃใŸใ€‚ + NANDO:1200910 + Persistent cloaca + ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“ ็ทๆŽ’ๆณ„่…”้บๆฎ‹ + + - + + ็ทๆŽ’ๆณ„่…”้บๆฎ‹ - - 294 - ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚่ƒธ่…”ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚ - 1200911 - + + 294 + ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚่ƒธ่…”ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:1200911 + Congenital diaphragmatic hernia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚ ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข + - + ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข - - 295 - ่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใ‚’ๅŒ…ๅซใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใฏ็„ก็—‡ๅ€™ๆ€งใ ใŒใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€่‡ดๆญป็š„็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็‹ฌ็ซ‹ใ—ใŸ่‡จๅบŠ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚ŒใŸใ€‚ๅนณๆˆ22ๅนดๅบฆใ‹ใ‚‰ใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ่ชฟๆŸปใงใฏใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ–ฐ่ฆ็™บ็—‡ไพ‹ๆ•ฐใฏๅนด้–“๏ผ•๏ฝž10ไพ‹็จ‹ๅบฆใจๆŽจๅฎšใ•ใ‚Œใ€ๆ˜Žใ‚‰ใ‹ใช็”ทๅฅณๅทฎใฏใชใ„ใ€‚ๅคšใใฏไนณๅ…ๆœŸๆ—ฉๆœŸใพใงใซ่จบๆ–ญใ•ใ‚Œใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญไพ‹ใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ็—‡ไพ‹ใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใฏ้‡็—‡ใง้ซ˜ใƒชใ‚นใ‚ฏใจใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸไปฅ้™ใซใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใฎ่‚ๅ†…้–€่„ˆ่‚้™่„ˆใ‚ทใƒฃใƒณใƒˆใฎๆต้‡ๅข—ๅคงใ‹ใ‚‰ใ€่‚็กฌๅค‰็—‡ใ€่‚ๆฉŸ่ƒฝไฝŽไธ‹ใŒ้€ฒ่กŒใ—ใ€่‚ไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใฎใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€่‡ดๆญป็š„ใชๆ€ฅๆ€งๆœŸ็—‡็Šถใจๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใฎๅŒๆ–นใŒๅ•้กŒใจใชใฃใฆใ„ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใซๅฏพใ—ใฆใฏ่‚็งปๆคไปฅๅค–ใซๆ นๆฒป็š„ใชๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ - 1200912 - - Infantile Giant Hepatic Haemangiomas + + 295 + ่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใ‚’ๅŒ…ๅซใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใฏ็„ก็—‡ๅ€™ๆ€งใ ใŒใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€่‡ดๆญป็š„็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็‹ฌ็ซ‹ใ—ใŸ่‡จๅบŠ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚ŒใŸใ€‚ๅนณๆˆ22ๅนดๅบฆใ‹ใ‚‰ใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ่ชฟๆŸปใงใฏใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ–ฐ่ฆ็™บ็—‡ไพ‹ๆ•ฐใฏๅนด้–“๏ผ•๏ฝž10ไพ‹็จ‹ๅบฆใจๆŽจๅฎšใ•ใ‚Œใ€ๆ˜Žใ‚‰ใ‹ใช็”ทๅฅณๅทฎใฏใชใ„ใ€‚ๅคšใใฏไนณๅ…ๆœŸๆ—ฉๆœŸใพใงใซ่จบๆ–ญใ•ใ‚Œใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญไพ‹ใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ็—‡ไพ‹ใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใฏ้‡็—‡ใง้ซ˜ใƒชใ‚นใ‚ฏใจใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸไปฅ้™ใซใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใฎ่‚ๅ†…้–€่„ˆ่‚้™่„ˆใ‚ทใƒฃใƒณใƒˆใฎๆต้‡ๅข—ๅคงใ‹ใ‚‰ใ€่‚็กฌๅค‰็—‡ใ€่‚ๆฉŸ่ƒฝไฝŽไธ‹ใŒ้€ฒ่กŒใ—ใ€่‚ไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใฎใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€่‡ดๆญป็š„ใชๆ€ฅๆ€งๆœŸ็—‡็Šถใจๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใฎๅŒๆ–นใŒๅ•้กŒใจใชใฃใฆใ„ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใซๅฏพใ—ใฆใฏ่‚็งปๆคไปฅๅค–ใซๆ นๆฒป็š„ใชๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ + NANDO:1200912 + + Infantile giant hepatic hemangiomas + ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚… ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ - - Infant huge hepatic hemangioma + + Infantile giant hepatic haemangiomas ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ - - 296 - ่ƒ†้“้–‰้Ž–็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‚Ž็—‡ๆ€งใซ่‚ๅค–่ƒ†็ฎก็ต„็น”ใฎ็ ดๅฃŠใŒ่ตทใ“ใ‚Šใ€ๆง˜ใ€…ใชใƒฌใƒ™ใƒซใงใฎ่‚ๅค–่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จไฝ“ใฎ็ด„85๏ผ…ใŒ่‚้–€้ƒจใซใŠใ„ใฆ่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸๅคšใใฎ็—‡ไพ‹ใง็‚Ž็—‡ๆ€งใฎ่ƒ†็ฎก้šœๅฎณใฏ่‚ๅค–่ƒ†็ฎกใฎใฟใชใ‚‰ใš่‚ๅ†…ใฎๅฐ่‘‰้–“่ƒ†็ฎกใพใงใŠใ‚ˆใ‚“ใงใ„ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ10,000ใ‹ใ‚‰15,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1989ๅนดใ‹ใ‚‰่กŒใ‚ใ‚Œใฆใ„ใ‚‹ๆ—ฅๆœฌ่ƒ†้“้–‰้Ž–็—‡็ ”็ฉถไผšใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็™ป้Œฒใซใฏ2010ๅนดใพใงใซ2516ไพ‹ใฎ็™ป้ŒฒใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 1200913 - + + 296 + ่ƒ†้“้–‰้Ž–็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‚Ž็—‡ๆ€งใซ่‚ๅค–่ƒ†็ฎก็ต„็น”ใฎ็ ดๅฃŠใŒ่ตทใ“ใ‚Šใ€ๆง˜ใ€…ใชใƒฌใƒ™ใƒซใงใฎ่‚ๅค–่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จไฝ“ใฎ็ด„85๏ผ…ใŒ่‚้–€้ƒจใซใŠใ„ใฆ่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸๅคšใใฎ็—‡ไพ‹ใง็‚Ž็—‡ๆ€งใฎ่ƒ†็ฎก้šœๅฎณใฏ่‚ๅค–่ƒ†็ฎกใฎใฟใชใ‚‰ใš่‚ๅ†…ใฎๅฐ่‘‰้–“่ƒ†็ฎกใพใงใŠใ‚ˆใ‚“ใงใ„ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ10,000ใ‹ใ‚‰15,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1989ๅนดใ‹ใ‚‰่กŒใ‚ใ‚Œใฆใ„ใ‚‹ๆ—ฅๆœฌ่ƒ†้“้–‰้Ž–็—‡็ ”็ฉถไผšใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็™ป้Œฒใซใฏ2010ๅนดใพใงใซ2516ไพ‹ใฎ็™ป้ŒฒใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:1200913 + Biliary atresia + ใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† ่ƒ†้“้–‰้Ž–็—‡ + - - + + + BA ่ƒ†้“้–‰้Ž–็—‡ - - 296 - 1200914 - - type II biliaryย atresia + + 296 + NANDO:1200914 + + 1ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + Type I biliary atresia โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡ + - - + + โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡ - - 296 - 1200915 - - type I cystic biliary atresia + + 296 + NANDO:1200915 + + 1ใ—ใ™ใจใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + Type I cystic biliary atresia โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡ + - - + + โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡ - - 296 - 1200916 - - type II biliaryย atresia - โ…กๅž‹่ƒ†้“้–‰้Ž–็—‡ + + 296 + NANDO:1200916 + + 2ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + IIๅž‹่ƒ†้“้–‰้Ž–็—‡ + Type II biliary atresia + - - - โ…กๅž‹่ƒ†้“้–‰้Ž–็—‡ - - - 296 - 1200917 - - type III biliaryย atresia - โ…ขๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + IIๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + 296 + NANDO:1200917 + + 3ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + IIIๅž‹่ƒ†้“้–‰้Ž–็—‡ + Type III biliary atresia + - - - โ…ขๅž‹่ƒ†้“้–‰้Ž–็—‡ - - - 297 - ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€ใ€Œ่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ๏ผ“็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€ใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๆ‚ฃ่€…ๆ•ฐใฏ200๏ฝž300ไบบ็จ‹ๅบฆใจๆŽจๆธฌใ•ใ‚ŒใŸใ€‚ - 1200918 - + + + IIIๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + 297 + ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€ใ€Œ่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ๏ผ“็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€ใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๆ‚ฃ่€…ๆ•ฐใฏ200๏ฝž300ไบบ็จ‹ๅบฆใจๆŽจๆธฌใ•ใ‚ŒใŸใ€‚ + NANDO:1200918 + Alagille syndrome + ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค + - + + AGS + Alagille็—‡ๅ€™็พค ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค - - 297 - 1200919 - + + 297 + NANDO:1200919 + + Typical Alagille syndrome + ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใฆใ‚“ใ‘ใ„ใ‚Œใ„ ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹ - + + + ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹ - - 297 - 1200920 - + + 297 + NANDO:1200920 + Atypical Alagille Syndrome + ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„ ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹ - + + ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹ - - 298 - ้บไผๆ€ง่†ต็‚Žใจใฏใ€้บไผใซใ‚ˆใ‚Šๆ…ขๆ€ง่†ต็‚ŽใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚้บไผๆ€ง่†ต็‚Žใฎๅฎš็พฉใจใ—ใฆGrossใฏใ€โ‘ ่ก€็ธ่€…ใซ๏ผ“ไบบไปฅไธŠใฎ่†ต็‚Ž็—‡ไพ‹ใ‚’่ชใ‚ใ€โ‘ก่‹ฅๅนด็™บ็—‡ใ€โ‘ขๅคง้‡้ฃฒ้…’ใชใฉๆ…ขๆ€ง่†ต็‚Žใฎๆˆๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒ่ชใ‚ใ‚‰ใ‚Œใšใ€โ‘ฃ๏ผ’ไธ–ไปฃไปฅไธŠใงๆ‚ฃ่€…ใŒ็™บ็”Ÿใ—ใฆใ„ใ‚‹ใ“ใจใ‚’ๆŒ™ใ’ใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๅฐ‘ๅญๅŒ–ใซไผดใ„ๆ˜Ž็ขบใชๅฎถๆ—ๆญดใ‚’ๅพ—ใ‚‹ใ“ใจใŒๅ›ฐ้›ฃใชใŸใ‚ใ€ๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง่†ต็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใฎ็ญ–ๅฎšใ—ใŸ่‡จๅบŠ่จบๆ–ญๅŸบๆบ–ใซๅŸบใฅใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ - 1200921 - + + 298 + ้บไผๆ€ง่†ต็‚Žใจใฏใ€้บไผใซใ‚ˆใ‚Šๆ…ขๆ€ง่†ต็‚ŽใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚้บไผๆ€ง่†ต็‚Žใฎๅฎš็พฉใจใ—ใฆGrossใฏใ€โ‘ ่ก€็ธ่€…ใซ๏ผ“ไบบไปฅไธŠใฎ่†ต็‚Ž็—‡ไพ‹ใ‚’่ชใ‚ใ€โ‘ก่‹ฅๅนด็™บ็—‡ใ€โ‘ขๅคง้‡้ฃฒ้…’ใชใฉๆ…ขๆ€ง่†ต็‚Žใฎๆˆๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒ่ชใ‚ใ‚‰ใ‚Œใšใ€โ‘ฃ๏ผ’ไธ–ไปฃไปฅไธŠใงๆ‚ฃ่€…ใŒ็™บ็”Ÿใ—ใฆใ„ใ‚‹ใ“ใจใ‚’ๆŒ™ใ’ใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๅฐ‘ๅญๅŒ–ใซไผดใ„ๆ˜Ž็ขบใชๅฎถๆ—ๆญดใ‚’ๅพ—ใ‚‹ใ“ใจใŒๅ›ฐ้›ฃใชใŸใ‚ใ€ๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง่†ต็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใฎ็ญ–ๅฎšใ—ใŸ่‡จๅบŠ่จบๆ–ญๅŸบๆบ–ใซๅŸบใฅใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200921 + Hereditary pancreatitis + ใ„ใงใ‚“ใ›ใ„ใ™ใ„ใˆใ‚“ ้บไผๆ€ง่†ต็‚Ž + - - + + ้บไผๆ€ง่†ต็‚Ž - - 299 - ๅšข่ƒžๆ€ง็ทš็ถญ็—‡๏ผˆ่†ตๅ›Š่ƒž็ทš็ถญ็—‡cystic fibrosis๏ผšCFใ€ใ‚ทใ‚นใƒ†ใ‚ฃใƒƒใ‚ฏใƒปใƒ•ใ‚กใ‚คใƒ–ใƒญใƒผใ‚ทใ‚น๏ผ‰ใฏใ€cystic fibrosis transmembrane conductance regulator๏ผˆCFTR๏ผ‰ใ‚’ๅŽŸๅ› ๅˆ†ๅญใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฐ—้“ๅ†…ๆถฒใ€่…ธ็ฎกๅ†…ๆถฒใ€่†ตๆถฒใชใฉๅ…จ่บซใฎๅˆ†ๆณŒๆถฒ๏ผ็ฒ˜ๆถฒใŒ่‘—ใ—ใ็ฒ˜็จ ใจใชใ‚Šใ€็ฎก่…”ใŒ้–‰ๅกžใ—ๆ„ŸๆŸ“ใ—ๆ˜“ใใชใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช็—‡ไพ‹ใงใฏใ€่ƒŽไพฟๆ€งใ‚คใƒฌใ‚ฆใ‚นใ‚’่ตทใ“ใ—ใ€่†ต่‡“ใŒ่Ž็ธฎใ—ใฆ่†ตๅค–ๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚’ๆฅใŸใ—ใ€ๅ‘ผๅธๅ™จๆ„ŸๆŸ“ใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ๆฑ—ไธญใฎๅกฉๅŒ–็‰ฉใ‚คใ‚ชใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใฏ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚Šใ€่จบๆ–ญใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200922 - + + 299 + ๅšข่ƒžๆ€ง็ทš็ถญ็—‡๏ผˆ่†ตๅ›Š่ƒž็ทš็ถญ็—‡cystic fibrosis๏ผšCFใ€ใ‚ทใ‚นใƒ†ใ‚ฃใƒƒใ‚ฏใƒปใƒ•ใ‚กใ‚คใƒ–ใƒญใƒผใ‚ทใ‚น๏ผ‰ใฏใ€cystic fibrosis transmembrane conductance regulator๏ผˆCFTR๏ผ‰ใ‚’ๅŽŸๅ› ๅˆ†ๅญใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฐ—้“ๅ†…ๆถฒใ€่…ธ็ฎกๅ†…ๆถฒใ€่†ตๆถฒใชใฉๅ…จ่บซใฎๅˆ†ๆณŒๆถฒ๏ผ็ฒ˜ๆถฒใŒ่‘—ใ—ใ็ฒ˜็จ ใจใชใ‚Šใ€็ฎก่…”ใŒ้–‰ๅกžใ—ๆ„ŸๆŸ“ใ—ๆ˜“ใใชใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช็—‡ไพ‹ใงใฏใ€่ƒŽไพฟๆ€งใ‚คใƒฌใ‚ฆใ‚นใ‚’่ตทใ“ใ—ใ€่†ต่‡“ใŒ่Ž็ธฎใ—ใฆ่†ตๅค–ๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚’ๆฅใŸใ—ใ€ๅ‘ผๅธๅ™จๆ„ŸๆŸ“ใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ๆฑ—ไธญใฎๅกฉๅŒ–็‰ฉใ‚คใ‚ชใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใฏ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚Šใ€่จบๆ–ญใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200922 + Cystic fibrosis + ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ๅšข่ƒžๆ€ง็ทš็ถญ็—‡ + - + ๅšข่ƒžๆ€ง็ทš็ถญ็—‡ - - 300 - ๆœฌ้‚ฆใ‚ˆใ‚Š็™บไฟกใ•ใ‚ŒใŸๆ–ฐใ—ใ„ๆฆ‚ๅฟตใจใ—ใฆๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ็•ฐๅธธใ‚„่ก€ไธญIgG4้ซ˜ๅ€คใซๅŠ ใˆใ€ใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ่‘—ใ—ใ„ๆตธๆฝคใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚Šใ€ๅŒๆ™‚ๆ€งใ‚ใ‚‹ใ„ใฏ็•ฐๆ™‚ๆ€งใซๅ…จ่บซ่ซธ่‡“ๅ™จใฎ่…ซๅคงใ‚„็ต็ฏ€ใƒป่‚ฅๅŽšๆ€ง็—…ๅค‰ใชใฉใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฝนๆ‚ฃ่‡“ๅ™จใจใ—ใฆใฏ่†ต่‡“ใ€่ƒ†็ฎกใ€ๆถ™่…บใƒปๅ”พๆถฒ่…บใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็”ฒ็Šถ่…บใ€่‚บใ€่‚่‡“ใ€ๆถˆๅŒ–็ฎกใ€่…Ž่‡“ใ€ๅ‰็ซ‹่…บใ€ๅพŒ่…น่†œใ€ๅ‹•่„ˆใ€ใƒชใƒณใƒ‘็ฏ€ใ€็šฎ่†šใ€ไนณ่…บใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅค‰ใŒ่ค‡ๆ•ฐ่‡“ๅ™จใซๅŠใณๅ…จ่บซ็–พๆ‚ฃใจใ—ใฆใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅ˜ไธ€่‡“ๅ™จ็—…ๅค‰ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใ‚„ๆถ™่…บๅ”พๆถฒ่…บ็‚Ž๏ผˆใƒŸใ‚ฏใƒชใƒƒใƒ„็—…๏ผ‰ใชใฉใŒๅ…ธๅž‹็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏ่†ต็™Œใ‚„่ƒ†็ฎก็™Œใจ่ชค่จบใ•ใ‚Œใ€ๅค–็ง‘็š„ๆ‰‹่ก“ใ‚’ๅ—ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏๅ„่‡“ๅ™จ็—…ๅค‰ใซใ‚ˆใ‚Š็•ฐใชใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡“ๅ™จ่…ซๅคงใ€่‚ฅๅŽšใซใ‚ˆใ‚‹้–‰ๅกžใ€ๅœง่ฟซ็—‡็Šถใ‚„็ดฐ่ƒžๆตธๆฝคใ€็ทš็ถญๅŒ–ใซไผดใ†่‡“ๅ™จๆฉŸ่ƒฝไธๅ…จใชใฉๆ™‚ใซ้‡็ฏคใชๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใŒ็ฌฌไธ€้ธๆŠžใจใชใ‚‹ใŒใ€ๆธ›้‡ใ€ไธญๆ–ญใซใ‚ˆใฃใฆๅคšใใฎไพ‹ใงๅ†็™บใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200923 + + 300 + ๆœฌ้‚ฆใ‚ˆใ‚Š็™บไฟกใ•ใ‚ŒใŸๆ–ฐใ—ใ„ๆฆ‚ๅฟตใจใ—ใฆๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ็•ฐๅธธใ‚„่ก€ไธญIgG4้ซ˜ๅ€คใซๅŠ ใˆใ€ใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ่‘—ใ—ใ„ๆตธๆฝคใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚Šใ€ๅŒๆ™‚ๆ€งใ‚ใ‚‹ใ„ใฏ็•ฐๆ™‚ๆ€งใซๅ…จ่บซ่ซธ่‡“ๅ™จใฎ่…ซๅคงใ‚„็ต็ฏ€ใƒป่‚ฅๅŽšๆ€ง็—…ๅค‰ใชใฉใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฝนๆ‚ฃ่‡“ๅ™จใจใ—ใฆใฏ่†ต่‡“ใ€่ƒ†็ฎกใ€ๆถ™่…บใƒปๅ”พๆถฒ่…บใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็”ฒ็Šถ่…บใ€่‚บใ€่‚่‡“ใ€ๆถˆๅŒ–็ฎกใ€่…Ž่‡“ใ€ๅ‰็ซ‹่…บใ€ๅพŒ่…น่†œใ€ๅ‹•่„ˆใ€ใƒชใƒณใƒ‘็ฏ€ใ€็šฎ่†šใ€ไนณ่…บใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅค‰ใŒ่ค‡ๆ•ฐ่‡“ๅ™จใซๅŠใณๅ…จ่บซ็–พๆ‚ฃใจใ—ใฆใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅ˜ไธ€่‡“ๅ™จ็—…ๅค‰ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใ‚„ๆถ™่…บๅ”พๆถฒ่…บ็‚Ž๏ผˆใƒŸใ‚ฏใƒชใƒƒใƒ„็—…๏ผ‰ใชใฉใŒๅ…ธๅž‹็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏ่†ต็™Œใ‚„่ƒ†็ฎก็™Œใจ่ชค่จบใ•ใ‚Œใ€ๅค–็ง‘็š„ๆ‰‹่ก“ใ‚’ๅ—ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏๅ„่‡“ๅ™จ็—…ๅค‰ใซใ‚ˆใ‚Š็•ฐใชใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡“ๅ™จ่…ซๅคงใ€่‚ฅๅŽšใซใ‚ˆใ‚‹้–‰ๅกžใ€ๅœง่ฟซ็—‡็Šถใ‚„็ดฐ่ƒžๆตธๆฝคใ€็ทš็ถญๅŒ–ใซไผดใ†่‡“ๅ™จๆฉŸ่ƒฝไธๅ…จใชใฉๆ™‚ใซ้‡็ฏคใชๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใŒ็ฌฌไธ€้ธๆŠžใจใชใ‚‹ใŒใ€ๆธ›้‡ใ€ไธญๆ–ญใซใ‚ˆใฃใฆๅคšใใฎไพ‹ใงๅ†็™บใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200923 IgG4-related disease IgG4้–ข้€ฃ็–พๆ‚ฃ + ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ - - + + + IgG4-RD IgG4้–ข้€ฃ็–พๆ‚ฃ - - 300 - 1200924 - + + 300 + NANDO:1200924 + IgG4-related disease IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ + ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ใปใ†ใ‹ใค - - + + + IgG4-RD IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ - - 300 - 1200925 - + + 300 + NANDO:1200925 + Autoimmune pancreatitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“ ่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž + - + ่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž - - 300 - 1200926 - - diffuse-typeย autoimmune pancreatitis + + 300 + NANDO:1200926 + + Diffuse-type autoimmune pancreatitis + ใณใพใ‚“ใŒใŸใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“ ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž - + + ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž - - 300 - 1200927 - - focal-type autoimmune pancreatitis + + 300 + NANDO:1200927 + + Focal-type autoimmune pancreatitis + ใ’ใ‚“ใใ‚‡ใใŒใŸใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“ ้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž - + + ้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž - - 300 - 1200928 - + + 300 + NANDO:1200928 + IgG4-related sclerosing cholangitis IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž + ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“ - - + + + IgG4-SC IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž - - 300 - 1200929 - - IgG4 related dacryoadenitis and sialadenitis + + 300 + NANDO:1200929 + + IgG4-related dacryoadenitis and sialadenitis IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰ + ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ‚‹ใ„ใ›ใ‚“ใƒปใŒใ‚“ใ‹ใŠใ‚ˆใณใ ใˆใใ›ใ‚“ใณใ‚‡ใ†ใธใ‚“ - - + + + IgG4-DS IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰ - - 300 - 1200930 - + + 300 + NANDO:1200930 + IgG4-related kidney disease IgG4้–ข้€ฃ่…Ž่‡“็—… + ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใžใ†ใณใ‚‡ใ† - - + + + IgG4-RKD IgG4้–ข้€ฃ่…Ž่‡“็—… - - 301 - ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆmacular dystrophy๏ผ‰ใฏ็œผๅบ•ใฎ้ป„ๆ–‘้ƒจใซไธก็œผๆ€งใ€้€ฒ่กŒๆ€งใฎ็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆdystrophy๏ผ‰ใจใฏใ€้ž็‚Ž็—‡ๆ€งใ€้€ฒ่กŒๆ€งใฎๆ „้คŠไธŠใ‚ใ‚‹ใ„ใฏไปฃ่ฌไธŠใฎ็•ฐๅธธใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏใ€ไฝ•ใ‚‰ใ‹ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ้ป„ๆ–‘้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ่จบๆ–ญใซใฏใ€๏ผˆ๏ผ‘๏ผ‰ๅŸบๆœฌ็š„ใซไธก็œผๆ€งใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ’๏ผ‰ๅฎถๆ—ๆ€งใ€้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ“๏ผ‰ใชใ‚“ใ‚‰ๅค–ๅ› ใŒๅŠ ใ‚ใ‚‹ใ“ใจใชใ—ใซ็™บ็”Ÿใ™ใ‚‹ใ€‚๏ผˆ๏ผ”๏ผ‰ไป–่ฆš็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€่‡ช่ฆš็š„ๆฉŸ่ƒฝๆคœๆŸปๆ‰€่ฆ‹ใ€ใ„ใšใ‚Œใ‹ใ‚‰ใฟใฆใ‚‚ๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ๏ผ”ใคใฎ้ …็›ฎใ‚’ๆบ€ใŸใ™๏ผˆๅŽš็”Ÿ็œ็‰นๆ€ง็–พๆ‚ฃ็ถฒ่†œ่„ˆ็ตก่†œ่Ž็ธฎ็—‡่ชฟๆŸป็ ”็ฉถ็ญใ€€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ่จบๆ–ญใฎๆ‰‹ๅผ•ใใ‚’ๅ‚็…ง๏ผ‰ใ€‚ใชใŠ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็‹ญ็พฉใซใฏ็—…ๅค‰ใŒ้ป„ๆ–‘้ƒจใซ้™ๅฑ€ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใŒใ€ๅคšใใฎ็—…ๅž‹ใซใŠใ„ใฆ็—…ๅค‰ใฏ้ป„ๆ–‘้ƒจใ‹ใ‚‰ๅพŒๆฅต้ƒจใซๅบƒใŒใ‚Šใ€ใจใใซๅ‘จ่พบ้ƒจ็ถฒ่†œใพใงๅŠใถใ“ใจใŒใ‚ใ‚‹ใ€‚ - 1200931 - + + 301 + ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆmacular dystrophy๏ผ‰ใฏ็œผๅบ•ใฎ้ป„ๆ–‘้ƒจใซไธก็œผๆ€งใ€้€ฒ่กŒๆ€งใฎ็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆdystrophy๏ผ‰ใจใฏใ€้ž็‚Ž็—‡ๆ€งใ€้€ฒ่กŒๆ€งใฎๆ „้คŠไธŠใ‚ใ‚‹ใ„ใฏไปฃ่ฌไธŠใฎ็•ฐๅธธใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏใ€ไฝ•ใ‚‰ใ‹ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ้ป„ๆ–‘้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ่จบๆ–ญใซใฏใ€๏ผˆ๏ผ‘๏ผ‰ๅŸบๆœฌ็š„ใซไธก็œผๆ€งใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ’๏ผ‰ๅฎถๆ—ๆ€งใ€้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ“๏ผ‰ใชใ‚“ใ‚‰ๅค–ๅ› ใŒๅŠ ใ‚ใ‚‹ใ“ใจใชใ—ใซ็™บ็”Ÿใ™ใ‚‹ใ€‚๏ผˆ๏ผ”๏ผ‰ไป–่ฆš็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€่‡ช่ฆš็š„ๆฉŸ่ƒฝๆคœๆŸปๆ‰€่ฆ‹ใ€ใ„ใšใ‚Œใ‹ใ‚‰ใฟใฆใ‚‚ๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ๏ผ”ใคใฎ้ …็›ฎใ‚’ๆบ€ใŸใ™๏ผˆๅŽš็”Ÿ็œ็‰นๆ€ง็–พๆ‚ฃ็ถฒ่†œ่„ˆ็ตก่†œ่Ž็ธฎ็—‡่ชฟๆŸป็ ”็ฉถ็ญใ€€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ่จบๆ–ญใฎๆ‰‹ๅผ•ใใ‚’ๅ‚็…ง๏ผ‰ใ€‚ใชใŠ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็‹ญ็พฉใซใฏ็—…ๅค‰ใŒ้ป„ๆ–‘้ƒจใซ้™ๅฑ€ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใŒใ€ๅคšใใฎ็—…ๅž‹ใซใŠใ„ใฆ็—…ๅค‰ใฏ้ป„ๆ–‘้ƒจใ‹ใ‚‰ๅพŒๆฅต้ƒจใซๅบƒใŒใ‚Šใ€ใจใใซๅ‘จ่พบ้ƒจ็ถฒ่†œใพใงๅŠใถใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:1200931 + Macular dystrophy + ใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + + ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 301 - 1200932 - + + 301 + NANDO:1200932 + Vitelliform macular dystrophy + ใ‚‰ใ‚“ใŠใ†ใ‚ˆใ†ใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + Best vitelliform macular dystrophy ใƒ™ใ‚นใƒˆ็—… ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 301 - 1200933 - + + 301 + NANDO:1200933 + Stargardt disease Stargardt็—… + ใ™ใŸใƒผใŒใ‚‹ใฉใณใ‚‡ใ† - + Stargardt็—… - - 301 - 1200934 - + + 301 + NANDO:1200934 + Occult macular dystrophy + ใŠใ‹ใ‚‹ใจใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 301 - 1200935 - + + 301 + NANDO:1200935 + Cone-rod dystrophy and cone dystrophy + ใ™ใ„ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผใ€ใŠใ‚ˆใณใ™ใ„ใŸใ„ใ‹ใ‚“ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ ้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + ้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 301 - 1200936 - + + 301 + NANDO:1200936 + Cone dystrophy + ใ™ใ„ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ ้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + COD ้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 301 - 1200937 - + + 301 + NANDO:1200937 + Cone-rod dystrophy + ใ™ใ„ใŸใ„ใ‹ใ‚“ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - + CORD - ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 301 - 1200938 - + + 301 + NANDO:1200938 + X-linked juvenile retinoschisis X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ‚‚ใ†ใพใใถใ‚“ใ‚Šใ—ใ‚‡ใ† - + XๆŸ“่‰ฒไฝ“่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡ X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡ - - 301 - 1200939 - + + 301 + NANDO:1200939 + Central areolar choroidal dystrophy + ใกใ‚…ใ†ใ—ใ‚“ใ›ใ„ใ‚Šใ‚“ใ‚‚ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚‰ใใพใใ˜ใ™ใจใ‚ใตใƒใƒผ ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + + ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 302 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้บไผๅญๅค‰็•ฐใŒๆฏ็ณป้บไผๅฝขๅผใ‚’่ฆๅฎšใ—ใ€ไป–ใฎ้บไผๅ› ๅญใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚คใƒƒใ‚ฏไฟฎ้ฃพใ€็’ฐๅขƒๅ› ๅญใŒ็™บ็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนด็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๆฏ็ณป้บไผใฎใŸใ‚ใ€็ฝนๆ‚ฃ็”ทๆ€งใฎๅญๅญซใซใฏๆ‚ฃ่€…ใฏ็พใ‚Œใšใ€็„กๅ…†ๅ€™ๅฅณๆ€งไฟๅ› ่€…ใฎๅญๅญซใซๆ‚ฃ่€…ใŒ็พใ‚Œใ‚‹ใ€‚ไธ€็œผใฎ่ฆ–ๅŠ›ไฝŽไธ‹ใ€ไธญๅฟƒๆš—็‚นใงๅง‹ใพใ‚Šใ€ไธๅฎšๆœŸ้–“ใ‚’ใŠใ„ใฆๅๅฏพ็œผใ‚‚ๅŒๆง˜ใฎ็—‡็Šถใ‚’็คบใ™ใ€‚็ถฒ่†œ็ฅž็ตŒ็ฏ€็ดฐ่ƒžใŒๅค‰ๆ€ง่„ฑ่ฝใ—ใ€ๆ•ฐใ‹ๆœˆใฎใ†ใกใซใ€ไธก็œผใฎ้ซ˜ๅบฆ่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ„ใŸใ‚‹๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›0.1ไปฅไธ‹๏ผ‰ใ€‚ - 1200940 - + + 302 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้บไผๅญๅค‰็•ฐใŒๆฏ็ณป้บไผๅฝขๅผใ‚’่ฆๅฎšใ—ใ€ไป–ใฎ้บไผๅ› ๅญใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚คใƒƒใ‚ฏไฟฎ้ฃพใ€็’ฐๅขƒๅ› ๅญใŒ็™บ็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนด็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๆฏ็ณป้บไผใฎใŸใ‚ใ€็ฝนๆ‚ฃ็”ทๆ€งใฎๅญๅญซใซใฏๆ‚ฃ่€…ใฏ็พใ‚Œใšใ€็„กๅ…†ๅ€™ๅฅณๆ€งไฟๅ› ่€…ใฎๅญๅญซใซๆ‚ฃ่€…ใŒ็พใ‚Œใ‚‹ใ€‚ไธ€็œผใฎ่ฆ–ๅŠ›ไฝŽไธ‹ใ€ไธญๅฟƒๆš—็‚นใงๅง‹ใพใ‚Šใ€ไธๅฎšๆœŸ้–“ใ‚’ใŠใ„ใฆๅๅฏพ็œผใ‚‚ๅŒๆง˜ใฎ็—‡็Šถใ‚’็คบใ™ใ€‚็ถฒ่†œ็ฅž็ตŒ็ฏ€็ดฐ่ƒžใŒๅค‰ๆ€ง่„ฑ่ฝใ—ใ€ๆ•ฐใ‹ๆœˆใฎใ†ใกใซใ€ไธก็œผใฎ้ซ˜ๅบฆ่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ„ใŸใ‚‹๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›0.1ไปฅไธ‹๏ผ‰ใ€‚ + NANDO:1200940 + Leber hereditary optic neuropathy + ใ‚Œใƒผในใ‚‹ใ„ใงใ‚“ใ›ใ„ใ—ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ† ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡ + - - + ใƒฌใƒผใƒ™ใƒซ็—… ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡ - - 303 - ใ‚ขใƒƒใ‚ทใƒฃใƒผ๏ผˆUsher๏ผ‰็—‡ๅ€™็พคใฏใ€้›ฃ่ดใซ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ‚’ไผดใ†็—‡ๅ€™็พคๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ฃ่ดใฎ็จ‹ๅบฆใฏไธญ็ญ‰ๅบฆ๏ฝž้‡ๅบฆ้›ฃ่ดใพใงใจๅน…ๅบƒใใ€ๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใ‚’ๅ ใ‚ใ‚‹ใ€‚ใพใŸ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€งใฏ้…็™บๆ€งใซ็™บ็—‡ใ—ใ€ๅพใ€…ใซ่ฆ–้‡Ž็‹ญ็ช„ใŒ้€ฒ่กŒใ—ใฆ็คพไผš็š„ๅคฑๆ˜Žใจใชใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ - 1200941 - + + 303 + ใ‚ขใƒƒใ‚ทใƒฃใƒผ๏ผˆUsher๏ผ‰็—‡ๅ€™็พคใฏใ€้›ฃ่ดใซ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ‚’ไผดใ†็—‡ๅ€™็พคๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ฃ่ดใฎ็จ‹ๅบฆใฏไธญ็ญ‰ๅบฆ๏ฝž้‡ๅบฆ้›ฃ่ดใพใงใจๅน…ๅบƒใใ€ๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใ‚’ๅ ใ‚ใ‚‹ใ€‚ใพใŸ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€งใฏ้…็™บๆ€งใซ็™บ็—‡ใ—ใ€ๅพใ€…ใซ่ฆ–้‡Ž็‹ญ็ช„ใŒ้€ฒ่กŒใ—ใฆ็คพไผš็š„ๅคฑๆ˜Žใจใชใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ + NANDO:1200941 + Usher syndrome + ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค - + ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค - - 303 - 1200942 - + + 303 + NANDO:1200942 + Usher Syndrome Type I + ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“1ใŒใŸ ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹ - + ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹ - - 303 - 1200943 - + + 303 + NANDO:1200943 + Usher Syndrome Type II + ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹ - + ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹ - - 303 - 1200944 - + + 303 + NANDO:1200944 + Usher Syndrome Type III + ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“3ใŒใŸ ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹ - - - + ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹ - - 304 - ่‹ฅๅนด๏ผˆ40ๆญณๆœชๆบ€๏ผ‰ใง็™บ็—‡ใ™ใ‚‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ‚’ใ•ใ™ใ€‚ๅพ“ๆฅใ‹ใ‚‰ๅŽŸๅ› ไธๆ˜Žใฎๆ„Ÿ้Ÿณ้›ฃ่ดใฎใ†ใกใ€ไธกๅดๆ€งใซ้›ฃ่ดใŒ้€ฒ่กŒใ™ใ‚‹็–พๆ‚ฃใ‚’ใ€Œ็‰น็™บๆ€งไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ€ใจใ—ใฆใใŸใŒใ€่€ไบบๆ€ง้›ฃ่ดใจใฎ้‘‘ๅˆฅใŒๅฟ…ใšใ—ใ‚‚ๅฎนๆ˜“ใงใฏใชใ‹ใฃใŸใ€‚ใใ“ใงๆญฃ็ขบใซ้‘‘ๅˆฅ่จบๆ–ญใŒ่กŒใˆใ‚‹ใ‚ˆใ†ๅนด้ฝข่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ้…็™บๆ€ง้›ฃ่ดใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ€ๆ—ข็Ÿฅใฎๅค–็š„ๅ› ๅญใ€ไพ‹ใˆใฐ้จ’้Ÿณใ€ๅค–ๅ‚ทใ€่–ฌๅ‰คใ€ๆ€ฅๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏ้™คใใจใ„ใ†้™คๅค–่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚่ฟ‘ๅนดใ€้บไผๅญใจใฎ้–ข้€ฃใŒๅฐ‘ใ—ใšใคๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใใฆใ„ใ‚‹ใŒ็—…ๆ…‹่งฃๆ˜Žใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ๅพŒๅคฉ็š„ใซ็™บ็—‡ใ€้€ฒ่กŒใ—ไธกๅด้‡ๅบฆ้›ฃ่ดใƒปใ‚ใ†ใจใชใ‚‹ไพ‹ใชใฉๆง˜ใ€…ใช็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ่จ€่ชž็™บ้”ใ‚„ๆ•™่‚ฒใฎใปใ‹็คพไผš็”Ÿๆดปใ‚„ๆ—ฅๅธธ็”Ÿๆดปใซๅคงใใชๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ใพใŸๆฒป็™‚ๆณ•ใŒๆœช็ขบ็ซ‹ใงใ‚ใ‚Š้•ทๆœŸ็š„ใช็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใฎ่งฃๆ˜Žใ‚„ๆฒป็™‚ๆณ•ใฎ้–‹็™บใฏ้‡่ฆใช่ชฒ้กŒใงใ‚ใ‚‹ใ€‚่จบๆ–ญๅŸบๆบ–ใซใ‚‚ใจใฅใ„ใŸๆ‚ฃ่€…ๆ•ฐใฏๅคšใใชใ„ใ€‚ - 1200945 - + + 304 + ่‹ฅๅนด๏ผˆ40ๆญณๆœชๆบ€๏ผ‰ใง็™บ็—‡ใ™ใ‚‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ‚’ใ•ใ™ใ€‚ๅพ“ๆฅใ‹ใ‚‰ๅŽŸๅ› ไธๆ˜Žใฎๆ„Ÿ้Ÿณ้›ฃ่ดใฎใ†ใกใ€ไธกๅดๆ€งใซ้›ฃ่ดใŒ้€ฒ่กŒใ™ใ‚‹็–พๆ‚ฃใ‚’ใ€Œ็‰น็™บๆ€งไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ€ใจใ—ใฆใใŸใŒใ€่€ไบบๆ€ง้›ฃ่ดใจใฎ้‘‘ๅˆฅใŒๅฟ…ใšใ—ใ‚‚ๅฎนๆ˜“ใงใฏใชใ‹ใฃใŸใ€‚ใใ“ใงๆญฃ็ขบใซ้‘‘ๅˆฅ่จบๆ–ญใŒ่กŒใˆใ‚‹ใ‚ˆใ†ๅนด้ฝข่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ้…็™บๆ€ง้›ฃ่ดใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ€ๆ—ข็Ÿฅใฎๅค–็š„ๅ› ๅญใ€ไพ‹ใˆใฐ้จ’้Ÿณใ€ๅค–ๅ‚ทใ€่–ฌๅ‰คใ€ๆ€ฅๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏ้™คใใจใ„ใ†้™คๅค–่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚่ฟ‘ๅนดใ€้บไผๅญใจใฎ้–ข้€ฃใŒๅฐ‘ใ—ใšใคๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใใฆใ„ใ‚‹ใŒ็—…ๆ…‹่งฃๆ˜Žใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ๅพŒๅคฉ็š„ใซ็™บ็—‡ใ€้€ฒ่กŒใ—ไธกๅด้‡ๅบฆ้›ฃ่ดใƒปใ‚ใ†ใจใชใ‚‹ไพ‹ใชใฉๆง˜ใ€…ใช็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ่จ€่ชž็™บ้”ใ‚„ๆ•™่‚ฒใฎใปใ‹็คพไผš็”Ÿๆดปใ‚„ๆ—ฅๅธธ็”Ÿๆดปใซๅคงใใชๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ใพใŸๆฒป็™‚ๆณ•ใŒๆœช็ขบ็ซ‹ใงใ‚ใ‚Š้•ทๆœŸ็š„ใช็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใฎ่งฃๆ˜Žใ‚„ๆฒป็™‚ๆณ•ใฎ้–‹็™บใฏ้‡่ฆใช่ชฒ้กŒใงใ‚ใ‚‹ใ€‚่จบๆ–ญๅŸบๆบ–ใซใ‚‚ใจใฅใ„ใŸๆ‚ฃ่€…ๆ•ฐใฏๅคšใใชใ„ใ€‚ + NANDO:1200945 + Juvenile Bilateral Sensorineural Hearing Loss + ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚Šใ‚‡ใ†ใใใ›ใ„ใ‹ใ‚“ใŠใ‚“ใชใ‚“ใกใ‚‡ใ† ่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด - + Juvenile-onset bilateral sensorineural hearing loss ่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด - - 305 - ้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใจใฏใ€้™ณๆ—งๆ€ง้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใฎ้…็™บๆ€ง็ถš็™บ็—‡ใจใ—ใฆๅ†…่€ณใซๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใŒ็”Ÿใ˜ใ€ใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ๅ†…่€ณๆ€งใ‚ใพใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡่€ณๅˆใฏไธก่€ณใฎ้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใŒๅ…ˆ่กŒใ—ใ€ๆ•ฐๅนดใ‹ใ‚‰ๆ•ฐๅๅนดใฎๅพŒใซใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ใŒใ€้›ฃ่ดใฏๅค‰ๅ‹•ใ—ใชใ„ใ€‚ - 1200946 - + + 305 + ้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใจใฏใ€้™ณๆ—งๆ€ง้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใฎ้…็™บๆ€ง็ถš็™บ็—‡ใจใ—ใฆๅ†…่€ณใซๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใŒ็”Ÿใ˜ใ€ใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ๅ†…่€ณๆ€งใ‚ใพใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡่€ณๅˆใฏไธก่€ณใฎ้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใŒๅ…ˆ่กŒใ—ใ€ๆ•ฐๅนดใ‹ใ‚‰ๆ•ฐๅๅนดใฎๅพŒใซใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ใŒใ€้›ฃ่ดใฏๅค‰ๅ‹•ใ—ใชใ„ใ€‚ + NANDO:1200946 + Delayed endolymphatic hydrops + ใกใฏใคใ›ใ„ใชใ„ใ‚Šใ‚“ใฑใ™ใ„ใ—ใ‚… ้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ - + + ้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ - - 306 - ไธกๅดใฎๅคš็™บๆ€ง้ผป่Œธใจ็ฒ˜่ชฟใช้ผปๆฑใซใ‚ˆใ‚Šใ€้ซ˜ๅบฆใฎ้ผป้–‰ใจๅ—…่ฆš้šœๅฎณใ‚’็คบใ™ใ€ๆˆไบบ็™บ็—‡ใฎ้›ฃๆฒปๆ€งๅ‰ฏ้ผป่…”็‚Žใงใ‚ใ‚‹ใ€‚ๆŠ—่Œ่–ฌใฏ็„กๅŠนใงใ‚ใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๅ†…ๆœใซใฎใฟๅๅฟœใ™ใ‚‹ใ€‚้ผป่…”ๅ†…ใซ้ผป่ŒธใŒๅ……ๆบ€ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€้ผปๅ‰ฏ้ผป่…”ๆ‰‹่ก“ใง้ผป่Œธใฎๆ‘˜ๅ‡บใ‚’่กŒใ†ใŒใ€ใ™ใใซๅ†็™บใ™ใ‚‹ใ€‚้ผป้–‰ใจๅ—…ไธŠ็šฎใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ—…่ฆšใฏๆถˆๅคฑใ™ใ‚‹ใ€‚ๅ—…่ฆš้šœๅฎณใฎใŸใ‚้ขจๅ‘ณ้šœๅฎณใ‚’ๅซใ‚ใŸๅ‘ณ่ฆš้šœๅฎณใ‚’ๆฅใ™ใ€‚ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใ‚นใƒ”ใƒชใƒณๅ–˜ๆฏ๏ผˆใ‚ขใ‚นใƒ”ใƒชใƒณไธ่€็—‡๏ผ‰ใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚้ผป้–‰ใฎใŸใ‚ใฎๅฃๅ‘ผๅธใŒๅ–˜ๆฏ็™บไฝœใ‚’่ช˜็™บใ—ใ€่‘—ใ—ใ„ๅ‘ผๅธ้šœๅฎณใ‚’่ตทใ“ใ™ใ€‚ใพใŸไธญ่€ณ็‚Žใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅฅฝ้…ธ็ƒๆ€งไธญ่€ณ็‚Žใจๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎไธญ่€ณ็‚Žใฏใ€้›ฃๆฒปๆ€งใง่ดๅŠ›้šœๅฎณใฏ้€ฒ่กŒใ—ใ€่พใซ่‡ณใ‚‹ใ€‚้ผป็ฒ˜่†œใซใฏๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŒใ€ไธญ่€ณ็‚Žใ‚’ไผดใ†ใจ่€ณๆผใซใ‚‚ๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใฏใ€ๆœฌ็–พๆ‚ฃใŒ่‰ฏๆ€ง็–พๆ‚ฃใฎใŸใ‚ใ€ไธปๆฒปๅŒปใฏ็ถ™็ถšไฝฟ็”จใซใŸใ‚ใ‚‰ใ„ใ‚’ๆ„Ÿใ˜ใ€ๆ•ฐใ‹ๆœˆใงๆŠ•ไธŽใ‚’ไธญๆญขใ™ใ‚‹ใจๅข—ๆ‚ชใ‚’ใ™ใ‚‹ใ€‚ไธŠๆฐ—้“ๆ„ŸๆŸ“ใซใ‚ˆใฃใฆใ‚‚็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹ใŸใ‚ๅ†ๅบฆ็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใ‚’ๆŠ•ไธŽใ›ใ–ใ‚‹ใ‚’ๅพ—ใชใ„็Šถๆณใจใชใ‚‹ใ€‚ - 1200947 - + + 306 + ไธกๅดใฎๅคš็™บๆ€ง้ผป่Œธใจ็ฒ˜่ชฟใช้ผปๆฑใซใ‚ˆใ‚Šใ€้ซ˜ๅบฆใฎ้ผป้–‰ใจๅ—…่ฆš้šœๅฎณใ‚’็คบใ™ใ€ๆˆไบบ็™บ็—‡ใฎ้›ฃๆฒปๆ€งๅ‰ฏ้ผป่…”็‚Žใงใ‚ใ‚‹ใ€‚ๆŠ—่Œ่–ฌใฏ็„กๅŠนใงใ‚ใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๅ†…ๆœใซใฎใฟๅๅฟœใ™ใ‚‹ใ€‚้ผป่…”ๅ†…ใซ้ผป่ŒธใŒๅ……ๆบ€ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€้ผปๅ‰ฏ้ผป่…”ๆ‰‹่ก“ใง้ผป่Œธใฎๆ‘˜ๅ‡บใ‚’่กŒใ†ใŒใ€ใ™ใใซๅ†็™บใ™ใ‚‹ใ€‚้ผป้–‰ใจๅ—…ไธŠ็šฎใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ—…่ฆšใฏๆถˆๅคฑใ™ใ‚‹ใ€‚ๅ—…่ฆš้šœๅฎณใฎใŸใ‚้ขจๅ‘ณ้šœๅฎณใ‚’ๅซใ‚ใŸๅ‘ณ่ฆš้šœๅฎณใ‚’ๆฅใ™ใ€‚ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใ‚นใƒ”ใƒชใƒณๅ–˜ๆฏ๏ผˆใ‚ขใ‚นใƒ”ใƒชใƒณไธ่€็—‡๏ผ‰ใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚้ผป้–‰ใฎใŸใ‚ใฎๅฃๅ‘ผๅธใŒๅ–˜ๆฏ็™บไฝœใ‚’่ช˜็™บใ—ใ€่‘—ใ—ใ„ๅ‘ผๅธ้šœๅฎณใ‚’่ตทใ“ใ™ใ€‚ใพใŸไธญ่€ณ็‚Žใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅฅฝ้…ธ็ƒๆ€งไธญ่€ณ็‚Žใจๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎไธญ่€ณ็‚Žใฏใ€้›ฃๆฒปๆ€งใง่ดๅŠ›้šœๅฎณใฏ้€ฒ่กŒใ—ใ€่พใซ่‡ณใ‚‹ใ€‚้ผป็ฒ˜่†œใซใฏๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŒใ€ไธญ่€ณ็‚Žใ‚’ไผดใ†ใจ่€ณๆผใซใ‚‚ๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใฏใ€ๆœฌ็–พๆ‚ฃใŒ่‰ฏๆ€ง็–พๆ‚ฃใฎใŸใ‚ใ€ไธปๆฒปๅŒปใฏ็ถ™็ถšไฝฟ็”จใซใŸใ‚ใ‚‰ใ„ใ‚’ๆ„Ÿใ˜ใ€ๆ•ฐใ‹ๆœˆใงๆŠ•ไธŽใ‚’ไธญๆญขใ™ใ‚‹ใจๅข—ๆ‚ชใ‚’ใ™ใ‚‹ใ€‚ไธŠๆฐ—้“ๆ„ŸๆŸ“ใซใ‚ˆใฃใฆใ‚‚็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹ใŸใ‚ๅ†ๅบฆ็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใ‚’ๆŠ•ไธŽใ›ใ–ใ‚‹ใ‚’ๅพ—ใชใ„็Šถๆณใจใชใ‚‹ใ€‚ + NANDO:1200947 + Eosinophilic sinusitis + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใตใใณใใ†ใˆใ‚“ ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž - + ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž - - 307 - ใ‚ซใƒŠใƒใƒณ็—…ใฏใ€ใ‚ขใ‚นใƒ‘ใƒซใƒˆใ‚ขใ‚ทใƒฉใƒผใ‚ผ๏ผˆaspartoacylase๏ผšASPA๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžข็ฅž็ตŒ็ณปใซๅคง้‡ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€็จฎใงใ‚ใ‚‹N-ใ‚ขใ‚ปใƒใƒซใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธ๏ผˆN-acetyl-aspartate๏ผšNAA๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็™ฝ่ณชใฎใƒŸใ‚จใƒชใƒณ้ž˜ใฎ็ฉบ่ƒžๅŒ–ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€งใงไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅบงไฝใ‚„็™บ่ชžใ‚’็ฒๅพ—ใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚Šๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใชใฉใงๆญปไบกใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚ - 1200948 - + + 307 + ใ‚ซใƒŠใƒใƒณ็—…ใฏใ€ใ‚ขใ‚นใƒ‘ใƒซใƒˆใ‚ขใ‚ทใƒฉใƒผใ‚ผ๏ผˆaspartoacylase๏ผšASPA๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžข็ฅž็ตŒ็ณปใซๅคง้‡ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€็จฎใงใ‚ใ‚‹N-ใ‚ขใ‚ปใƒใƒซใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธ๏ผˆN-acetyl-aspartate๏ผšNAA๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็™ฝ่ณชใฎใƒŸใ‚จใƒชใƒณ้ž˜ใฎ็ฉบ่ƒžๅŒ–ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€งใงไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅบงไฝใ‚„็™บ่ชžใ‚’็ฒๅพ—ใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚Šๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใชใฉใงๆญปไบกใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚ + NANDO:1200948 + Canavan disease + ใ‹ใชใฐใ‚“ใณใ‚‡ใ† ใ‚ซใƒŠใƒใƒณ็—… + + - + ใ‚ซใƒŠใƒใƒณ็—… - - 308 - ็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡๏ผˆMegalencephalic leukoencephalopathy with subcortical cysts๏ผ‰ใ€็™ฝ่ณชๆถˆๅคฑ็—…๏ผˆLeukoencephalopathy with vanishing white matter๏ผ‰ใ€ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆLeukoencephalopathy, progressive, with ovarian failure๏ผ‰ใฏใ€ไธ€ๅฎšๅนด้ฝขใพใงใฏๆญฃๅธธใซ็™บ้”ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅพŒใซ้€ฒ่กŒๆ€งใซๅคง่„ณ็™ฝ่ณช้šœๅฎณใ‚’ๆฅใ—ใ€ๅพใ€…ใซ้€€่กŒใ™ใ‚‹้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใฏใ€ๅคง่„ณ็™ฝ่ณช้šœๅฎณใŒ่ปฝๅบฆ้ ญ้ƒจๅค–ๅ‚ทใ‚„ๆ„ŸๆŸ“็—‡ใซใ‚ˆใ‚‹้ซ˜็†ฑใชใฉใ‚’ๅฅ‘ๆฉŸใซ้šŽๆฎต็Šถใซๆ‚ชๅŒ–ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„่ช็ŸฅๆฉŸ่ƒฝใฎไฝŽไธ‹ใ€ๅ››่‚ข้บป็—บ็—‡็Šถใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๅธธ็”Ÿๆดป่ƒฝๅŠ›ใฎไฝŽไธ‹ใŒๅพใ€…ใซ้ก•่‘—ใจใชใ‚‹ใ€‚ๆœ€็ต‚็š„ใซใฏๅฏใŸใใ‚Šใซใชใ‚Šใ€ๅŒป็™‚็š„ใ‚ฑใ‚ขใŒๅฟ…่ฆใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŒไธ€็–พๆ‚ฃใงใ‚ใฃใฆใ‚‚็™บ็—‡ๅนด้ฝขใฎๅน…ใฏๅบƒใใ€ไนณๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰ๆˆไบบๆœŸไปฅ้™ใฎ็™บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIๆคœๆŸปใซใ‚ˆใ‚‹ๅคง่„ณ็™ฝ่ณชใฎT2W้ซ˜ไฟกๅทใ‚„ๅšข่ƒžๅŒ–ใŒ็‰นๅพดใงใ‚ใ‚‹ใŒใ€็”ŸๅŒ–ๅญฆ็š„ๆคœๆŸปใชใฉใฎๅฎข่ฆณ็š„ใชๆŒ‡ๆจ™ใฏใชใใ€็ขบๅฎš่จบๆ–ญใฏ้บไผๅญ่จบๆ–ญใซใ‚ˆใ‚‹ใ—ใ‹ใชใ„ใ€‚ - 1200949 - Progressive multifocal leukoencephalopathy + + 308 + ็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡๏ผˆMegalencephalic leukoencephalopathy with subcortical cysts๏ผ‰ใ€็™ฝ่ณชๆถˆๅคฑ็—…๏ผˆLeukoencephalopathy with vanishing white matter๏ผ‰ใ€ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆLeukoencephalopathy, progressive, with ovarian failure๏ผ‰ใฏใ€ไธ€ๅฎšๅนด้ฝขใพใงใฏๆญฃๅธธใซ็™บ้”ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅพŒใซ้€ฒ่กŒๆ€งใซๅคง่„ณ็™ฝ่ณช้šœๅฎณใ‚’ๆฅใ—ใ€ๅพใ€…ใซ้€€่กŒใ™ใ‚‹้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใฏใ€ๅคง่„ณ็™ฝ่ณช้šœๅฎณใŒ่ปฝๅบฆ้ ญ้ƒจๅค–ๅ‚ทใ‚„ๆ„ŸๆŸ“็—‡ใซใ‚ˆใ‚‹้ซ˜็†ฑใชใฉใ‚’ๅฅ‘ๆฉŸใซ้šŽๆฎต็Šถใซๆ‚ชๅŒ–ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„่ช็ŸฅๆฉŸ่ƒฝใฎไฝŽไธ‹ใ€ๅ››่‚ข้บป็—บ็—‡็Šถใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๅธธ็”Ÿๆดป่ƒฝๅŠ›ใฎไฝŽไธ‹ใŒๅพใ€…ใซ้ก•่‘—ใจใชใ‚‹ใ€‚ๆœ€็ต‚็š„ใซใฏๅฏใŸใใ‚Šใซใชใ‚Šใ€ๅŒป็™‚็š„ใ‚ฑใ‚ขใŒๅฟ…่ฆใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŒไธ€็–พๆ‚ฃใงใ‚ใฃใฆใ‚‚็™บ็—‡ๅนด้ฝขใฎๅน…ใฏๅบƒใใ€ไนณๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰ๆˆไบบๆœŸไปฅ้™ใฎ็™บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIๆคœๆŸปใซใ‚ˆใ‚‹ๅคง่„ณ็™ฝ่ณชใฎT2W้ซ˜ไฟกๅทใ‚„ๅšข่ƒžๅŒ–ใŒ็‰นๅพดใงใ‚ใ‚‹ใŒใ€็”ŸๅŒ–ๅญฆ็š„ๆคœๆŸปใชใฉใฎๅฎข่ฆณ็š„ใชๆŒ‡ๆจ™ใฏใชใใ€็ขบๅฎš่จบๆ–ญใฏ้บไผๅญ่จบๆ–ญใซใ‚ˆใ‚‹ใ—ใ‹ใชใ„ใ€‚ + NANDO:1200949 + Progressive leukoencephalopathy + ใ—ใ‚“ใ“ใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ - + Leukoencephalopathy - ้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ - - 308 - 1200950 - - Megalencephalic leukoencephalopathy with subcortical cysts + + 308 + NANDO:1200950 + + Megaloencephalic leukoencephalopathy with subcortical cysts + ใฒใ—ใคใ‹ใฎใ†ใปใ†ใ‚’ใ‚‚ใคใ ใ„ใจใ†ใŒใŸใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡ + - + ็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡ - - 308 - 1200951 - - Leukoencephalopathy with vanishing white matter + + 308 + NANDO:1200951 + + Vanishing white matter disease + ใฏใใ—ใคใ—ใ‚‡ใ†ใ—ใคใณใ‚‡ใ† ็™ฝ่ณชๆถˆๅคฑ็—… + - + ็™ฝ่ณชๆถˆๅคฑ็—… - - 308 - 1200952 - + + 308 + NANDO:1200952 + Leukoencephalopathy, progressive, with ovarian failure + ใ‚‰ใ‚“ใใ†ใใฎใ†ใ—ใ‚‡ใ†ใŒใ„ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚“ใ“ใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ - + ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ - - 309 - ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…๏ผˆUnverricht-Lundborg็—…๏ผšULD๏ผ‰ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…๏ผˆLafora็—…๏ผ‰ๅŠใณ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆbenign adult familial myoclonus epilepsy๏ผšBAFME๏ผ‰ใฏใ€้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonus epilepsy๏ผšPME๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚PMEใฏใ€โ‘ ไธ้šๆ„้‹ๅ‹•ใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€โ‘กใฆใ‚“ใ‹ใ‚“็™บไฝœใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœๅŠใณๅ…จ่ˆฌๅผท็›ด้–“ไปฃ็™บไฝœใ€โ‘ขๅฐ่„ณ็—‡็Šถใ€โ‘ฃ่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ‚’๏ผ”ๅพดใจใ—ใฆ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ใชใฉใฎ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใ€MELASใ‚„MERRFใชใฉใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ€็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใชใฉใ‚‚ๅซใ‚€ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ“ใงใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใซ็™บ็—‡ใ—ใฆๆˆไบบไปฅ้™ใ‚‚็ฝน็—…ๆœŸ้–“ใŒ้•ทใ„PMEใฎไธญๆ ธ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…ใ€ใ•ใ‚‰ใซใ€่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใ‚’ๆ‰ฑใ†ใ€‚่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฏใ€ๆ—ฅๆœฌใงๅคšใ„้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใงใ€ๆˆไบบไปฅ้™ใซ็™บ็—‡ใ—ใฆใ€ๅฝ“ๅˆ็—‡็Šถใฏ่ปฝๅบฆใงใ‹ใค็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹ใŒใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ๅ‰่€…ใฎ็‰นๅพดใ‹ใ‚‰ใ€Œ่‰ฏๆ€งใ€ใฎๅ็งฐใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใฎ็ ”็ฉถใ‹ใ‚‰ใฏ้€ฒ่กŒๆ€งใงใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ—ๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆActivities of Daily Living๏ผšADL๏ผ‰ใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ - 1200953 + + 309 + ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…๏ผˆUnverricht-Lundborg็—…๏ผšULD๏ผ‰ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…๏ผˆLafora็—…๏ผ‰ๅŠใณ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆbenign adult familial myoclonus epilepsy๏ผšBAFME๏ผ‰ใฏใ€้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonus epilepsy๏ผšPME๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚PMEใฏใ€โ‘ ไธ้šๆ„้‹ๅ‹•ใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€โ‘กใฆใ‚“ใ‹ใ‚“็™บไฝœใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœๅŠใณๅ…จ่ˆฌๅผท็›ด้–“ไปฃ็™บไฝœใ€โ‘ขๅฐ่„ณ็—‡็Šถใ€โ‘ฃ่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ‚’๏ผ”ๅพดใจใ—ใฆ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ใชใฉใฎ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใ€MELASใ‚„MERRFใชใฉใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ€็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใชใฉใ‚‚ๅซใ‚€ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ“ใงใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใซ็™บ็—‡ใ—ใฆๆˆไบบไปฅ้™ใ‚‚็ฝน็—…ๆœŸ้–“ใŒ้•ทใ„PMEใฎไธญๆ ธ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…ใ€ใ•ใ‚‰ใซใ€่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใ‚’ๆ‰ฑใ†ใ€‚่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฏใ€ๆ—ฅๆœฌใงๅคšใ„้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใงใ€ๆˆไบบไปฅ้™ใซ็™บ็—‡ใ—ใฆใ€ๅฝ“ๅˆ็—‡็Šถใฏ่ปฝๅบฆใงใ‹ใค็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹ใŒใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ๅ‰่€…ใฎ็‰นๅพดใ‹ใ‚‰ใ€Œ่‰ฏๆ€งใ€ใฎๅ็งฐใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใฎ็ ”็ฉถใ‹ใ‚‰ใฏ้€ฒ่กŒๆ€งใงใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ—ๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆActivities of Daily Living๏ผšADL๏ผ‰ใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ + NANDO:1200953 Progressive myoclonus epilepsy + ใ—ใ‚“ใ“ใ†ใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ ้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ - + PME ้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ - - 309 - 1200954 - + + 309 + NANDO:1200954 + Unverricht-Lundborg disease - ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—… + ใ†ใ‚“ใตใ‡ใ‚‹ใ‚Šใฒใจใƒปใ‚‹ใ‚“ใจใผใ‚‹ใใณใ‚‡ใ† + ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฐ็—… - + ULD - ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—… + ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฐ็—… - - 309 - 1200955 - + + 309 + NANDO:1200955 + Lafora disease + ใ‚‰ใตใ‰ใ‚‰ใณใ‚‡ใ† ใƒฉใƒ•ใ‚ฉใƒฉ็—… + - + ใƒฉใƒ•ใ‚ฉใƒฉ็—… - - 309 - 1200956 - + + 309 + NANDO:1200956 + benign adult familial myoclonus epilepsy + ใ‚Šใ‚‡ใ†ใ›ใ„ใ›ใ„ใ˜ใ‚“ใŒใŸใ‹ใžใใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ - + BAFME ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ - - 310 - ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆmalformation๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซ่ค‡ๆ•ฐใฎๅ™จๅฎ˜็ณป็ตฑใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅ˜ไธ€้ƒจไฝใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹่งฃๅ‰–ๅญฆ็š„้ƒจไฝใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๆ•ฐๅใ‹ใ‚‰ๆ•ฐ็™พใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹็—‡็Šถใฏใ€ๅฝฑ้Ÿฟใ‚’ๅ—ใ‘ใ‚‹่‡“ๅ™จใซใ‚ˆใ‚‹ใ€‚ๅฟƒ่‚บๆฉŸ่ƒฝใƒปๆถˆๅŒ–็ฎกๆฉŸ่ƒฝใƒป้›ฃๆฒปๆ€ง็—™ๆ”ฃใชใฉใฎไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚ˆใ‚Š็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€้‹ๅ‹•ๅ™จใ‚„ๆ„Ÿ่ฆšๅ™จใฎ้€ฒ่กŒๆ€งใฎๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 1200957 + + 310 + ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆmalformation๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซ่ค‡ๆ•ฐใฎๅ™จๅฎ˜็ณป็ตฑใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅ˜ไธ€้ƒจไฝใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹่งฃๅ‰–ๅญฆ็š„้ƒจไฝใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๆ•ฐๅใ‹ใ‚‰ๆ•ฐ็™พใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹็—‡็Šถใฏใ€ๅฝฑ้Ÿฟใ‚’ๅ—ใ‘ใ‚‹่‡“ๅ™จใซใ‚ˆใ‚‹ใ€‚ๅฟƒ่‚บๆฉŸ่ƒฝใƒปๆถˆๅŒ–็ฎกๆฉŸ่ƒฝใƒป้›ฃๆฒปๆ€ง็—™ๆ”ฃใชใฉใฎไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚ˆใ‚Š็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€้‹ๅ‹•ๅ™จใ‚„ๆ„Ÿ่ฆšๅ™จใฎ้€ฒ่กŒๆ€งใฎๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200957 Congenital anomalies syndrome + ใ›ใ‚“ใฆใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค - + Malformative syndrome + ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค - - 310 - 1200958 - + + 310 + NANDO:1200958 + 1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค + 1ใใ‚…ใƒผใถใถใ‚“ใ˜ใ‚…ใ†ใตใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ Partial trisomy 1q - + 1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค - - 310 - 1200959 - + + 310 + NANDO:1200959 + 9q34 deletion syndrome 9q34ๆฌ ๅคฑ็—‡ๅ€™็พค - + 9ใใ‚…ใƒผ34ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + Kleefstra syndrome - 9q34ๆฌ ๅคฑ็—‡ๅ€™็พค - - 310 - 1200960 - + + 310 + NANDO:1200960 + Cornelia de lange syndrome + ใ“ใ‚‹ใญใ‚Šใ‚ใƒปใงใ‚‰ใ‚“ใ’ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค + + - + ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค - - 310 - 1200961 - + + 310 + NANDO:1200961 + Smith-lemli-opitz syndrome + ใ™ใฟใ™ใƒปใ‚Œใ‚€ใ‚ŠใƒปใŠใดใฃใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค + - + ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค - - 311 - ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆๅณๆˆฟใ‹ใ‚‰ๅณๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๆˆฟๆตๅ…ฅ่ก€ๆตใฎๅ…จใฆใ‚’ๅณๅฎคใธ้€š้Žใ•ใ›ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ๅฟƒๆˆฟ้–“ใงใฏๅณๅทฆ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ€ไฝŽ้…ธ็ด ่ก€็—‡ใจใชใ‚‹ใ€‚ๆ‰‹่ก“ใ‚’ๅซใ‚ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆŒ็ถšใ™ใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹ๅคš่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ€‚่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ€้ซ˜ๅบฆใชไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จใ‚’ไฝต็™บใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซๅฟƒใƒป่‚บใฎ็Šถๆ…‹ใŒ่จฑใ›ใฐใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ใฎๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ นๆฒป็š„ใชๆฒป็™‚ใงใฏใชใ้ ้š”ๆœŸใซๅพช็’ฐ็ ด็ถปใ‚’็”Ÿใ˜ๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 1200962 - + + 311 + ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆๅณๆˆฟใ‹ใ‚‰ๅณๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๆˆฟๆตๅ…ฅ่ก€ๆตใฎๅ…จใฆใ‚’ๅณๅฎคใธ้€š้Žใ•ใ›ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ๅฟƒๆˆฟ้–“ใงใฏๅณๅทฆ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ€ไฝŽ้…ธ็ด ่ก€็—‡ใจใชใ‚‹ใ€‚ๆ‰‹่ก“ใ‚’ๅซใ‚ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆŒ็ถšใ™ใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹ๅคš่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ€‚่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ€้ซ˜ๅบฆใชไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จใ‚’ไฝต็™บใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซๅฟƒใƒป่‚บใฎ็Šถๆ…‹ใŒ่จฑใ›ใฐใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ใฎๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ นๆฒป็š„ใชๆฒป็™‚ใงใฏใชใ้ ้š”ๆœŸใซๅพช็’ฐ็ ด็ถปใ‚’็”Ÿใ˜ๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200962 + Congenital tricuspid stenosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ‚“ใ›ใ‚“ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡ - + Congenital tricuspid atresia Tricuspid atresia ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡ - - 312 - ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…ˆๅคฉ็š„ใชๅผ่ผชใฎไฝŽๅฝขๆˆใ€ๅผไธŠ็‹ญ็ช„่ผชใ€ๅผๅˆใฏๅผไธ‹็ต„็น”ใฎๆง‹้€ ็•ฐๅธธใชใฉใซ่ตทๅ› ใ™ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃ๏ผˆๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉ๏ผ‰ใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚ - 1200963 - + + 312 + ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…ˆๅคฉ็š„ใชๅผ่ผชใฎไฝŽๅฝขๆˆใ€ๅผไธŠ็‹ญ็ช„่ผชใ€ๅผๅˆใฏๅผไธ‹็ต„็น”ใฎๆง‹้€ ็•ฐๅธธใชใฉใซ่ตทๅ› ใ™ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃ๏ผˆๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉ๏ผ‰ใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚ + NANDO:1200963 + Congenital mitral stenosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ†ใผใ†ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡ - + mitral stenosis ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡ - - 313 - ่‚บ้™่„ˆใŒๅ…ˆๅคฉๆ€งใซ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ้–‰้Ž–ใจใชใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ฑ้€š่‚บ้™่„ˆ่…”ใฎๅทฆๆˆฟใธใฎๅธๅŽ้Ž็จ‹ใซใŠใ‘ใ‚‹็•ฐๅธธใจใ•ใ‚Œใ€่‚บๅค–ใฎ่‚บ้™่„ˆใŒไธปใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ใใฎ็™บ็”Ÿ็•ฐๅธธใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็‰‡ๅดใฎใฟใฎ่‚บ้™่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใฏๅทฆๅดใงใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ“ๆœฌไปฅไธŠ็‹ญ็ช„ใŒใ‚ใ‚Œใฐใ€่‚บ้ซ˜่ก€ๅœงใ€ๅณๅฟƒไธๅ…จใ‚’ๅˆไฝตใ—ใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚ - 1200964 - + + 313 + ่‚บ้™่„ˆใŒๅ…ˆๅคฉๆ€งใซ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ้–‰้Ž–ใจใชใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ฑ้€š่‚บ้™่„ˆ่…”ใฎๅทฆๆˆฟใธใฎๅธๅŽ้Ž็จ‹ใซใŠใ‘ใ‚‹็•ฐๅธธใจใ•ใ‚Œใ€่‚บๅค–ใฎ่‚บ้™่„ˆใŒไธปใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ใใฎ็™บ็”Ÿ็•ฐๅธธใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็‰‡ๅดใฎใฟใฎ่‚บ้™่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใฏๅทฆๅดใงใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ“ๆœฌไปฅไธŠ็‹ญ็ช„ใŒใ‚ใ‚Œใฐใ€่‚บ้ซ˜่ก€ๅœงใ€ๅณๅฟƒไธๅ…จใ‚’ๅˆไฝตใ—ใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚ + NANDO:1200964 + Congenital pulmonary vein stenosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡ - + + ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡ - - 314 - ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นๅŠใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจๅŠใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใฏใ€ๆˆไบบๆœŸใซใฏ่‚บๆฐ—่…ซใ€็„กๆฐ—่‚บใชใฉใซใ‚ˆใฃใฆๆ…ขๆ€งๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ - 1200965 - + + 314 + ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นๅŠใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจๅŠใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใฏใ€ๆˆไบบๆœŸใซใฏ่‚บๆฐ—่…ซใ€็„กๆฐ—่‚บใชใฉใซใ‚ˆใฃใฆๆ…ขๆ€งๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ + NANDO:1200965 + Vascular sling + ใฒใ ใ‚Šใฏใ„ใฉใ†ใฟใ‚ƒใใฟใŽใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ† ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ + - + PA sling Pulmonary artery sling ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ - - 315 - ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผLMX1B้–ข้€ฃ่…Ž็—‡ใฏใ€็ˆชๅฝขๆˆไธๅ…จใ€่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆใ€่…ธ้ชจใฎ่ง’็Šถ็ช่ตท๏ผˆiliac horn๏ผ‰ใ€่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’๏ผ”ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—ใ€ไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ๅŽŸๅ› ใฏLMX1B้บไผๅญๅค‰็•ฐใงใ‚ใ‚‹ใ€‚็ˆชใ€่†่“‹้ชจใ€่…ธ้ชจใชใฉใฎๅค‰ๅŒ–ใ‚’ไผดใ‚ใšใ€่…Ž็—‡ใ ใ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พคๆง˜่…Ž็—‡๏ผˆnail-patella-like renal disease๏ผšNPLRD๏ผ‰ใ‚„ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ๆ‚ฃ่€…ใซใ‚‚ใ€LMX1B้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใฏLMX1B้–ข้€ฃ่…Ž็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 1200966 - - nail-patella syndrome/LMX1B-Associated Nephropathy + + 315 + ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผLMX1B้–ข้€ฃ่…Ž็—‡ใฏใ€็ˆชๅฝขๆˆไธๅ…จใ€่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆใ€่…ธ้ชจใฎ่ง’็Šถ็ช่ตท๏ผˆiliac horn๏ผ‰ใ€่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’๏ผ”ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—ใ€ไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ๅŽŸๅ› ใฏLMX1B้บไผๅญๅค‰็•ฐใงใ‚ใ‚‹ใ€‚็ˆชใ€่†่“‹้ชจใ€่…ธ้ชจใชใฉใฎๅค‰ๅŒ–ใ‚’ไผดใ‚ใšใ€่…Ž็—‡ใ ใ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พคๆง˜่…Ž็—‡๏ผˆnail-patella-like renal disease๏ผšNPLRD๏ผ‰ใ‚„ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ๆ‚ฃ่€…ใซใ‚‚ใ€LMX1B้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใฏLMX1B้–ข้€ฃ่…Ž็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:1200966 + + Nail-patella syndrome/LMX1B-Associated Nephropathy + ใญใ„ใ‚‹ใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใใ†ใ—ใคใŒใ„ใ“ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผ‰๏ผใˆใ‚‹ใˆใ‚€ใˆใฃใใ™1ใณใƒผใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ† ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡ - + ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡ - - 315 - 1200967 - - nail-patella syndrome - ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค + + 315 + NANDO:1200967 + + Nail-patella syndrome + ใญใ„ใ‚‹ใƒปใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค + + - + ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค - ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค + ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค - - 315 - 1200968 - + + 315 + NANDO:1200968 + LMX1B-Associated Nephropathy + ใˆใ‚‹ใˆใ‚€ใˆใฃใใ™1ใณใƒผใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ† ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡ - + ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡ - - 316 - ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ตใ‚คใ‚ฏใƒซใ‚’ๆง‹ๆˆใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ‘๏ผˆCPT1๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ’๏ผˆCPT2๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผ๏ผˆCACT๏ผ‰ๅŠใณใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซ่ผธ้€ใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆOCTN-2๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใชใใชใ‚Šใ€ใใฎ็ตๆžœใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚่‡จๅบŠ็—…ๅž‹ใจใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 1200969 - - carnitine cycle disorders + + 316 + ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ตใ‚คใ‚ฏใƒซใ‚’ๆง‹ๆˆใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ‘๏ผˆCPT1๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ’๏ผˆCPT2๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผ๏ผˆCACT๏ผ‰ๅŠใณใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซ่ผธ้€ใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆOCTN-2๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใชใใชใ‚Šใ€ใใฎ็ตๆžœใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚่‡จๅบŠ็—…ๅž‹ใจใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200969 + + Carnitine cycle disorders + ใ‹ใ‚‹ใซใกใ‚“ใ‹ใ„ใ‚ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ - + + ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ - - 316 - 1200970 - - CPT1ๆฌ ๆ็—‡ - Carnitine Palmitoyltransferase I deficiency + + 316 + NANDO:1200970 + + Carnitine palmitoyltransferase I deficiency + ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + - - - ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + CPT1ๆฌ ๆ็—‡ - CPT1ๆฌ ๆ็—‡ - - - 316 - 1200971 - - CPT2ๆฌ ๆ็—‡ - Carnitine Palmitoyltransferase II deficiency + ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + 316 + NANDO:1200971 + + Carnitine palmitoyltransferase II deficiency + ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + - - ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡ + + CPT II deficiency + CPT2ๆฌ ๆ็—‡ - CPT2ๆฌ ๆ็—‡ + ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ - - 316 - 1200972 - - CACTๆฌ ๆ็—‡ + + 316 + NANDO:1200972 + Carnitine-acylcarnitine translocase deficiency + ใ‹ใ‚‹ใซใกใ‚“/ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + - + + CACTๆฌ ๆ็—‡ - CACTๆฌ ๆ็—‡ + ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ - - 316 - 1200973 - - OCTN-2็•ฐๅธธ็—‡ + + 316 + NANDO:1200973 + Systemic primary carnitine deficiency + ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡ + - + CDSP Carnitine deficiency, systemic primary - Carnitine uptakeย defect + Carnitine uptake defect + OCTN-2็•ฐๅธธ็—‡ ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡ - OCTN-2็•ฐๅธธ็—‡ + ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡ - - 317 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎฮฒ-้…ธๅŒ–็ณปใฎใ†ใกใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซ็ตๅˆใ—ใŸ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ๅ›ž่ทฏใ‚’ๅฝขๆˆใ™ใ‚‹๏ผ’้…ต็ด ใฎ๏ผ‘ใคใงใ€้•ท้Ž–่„‚่‚ช้…ธฮฒ้…ธๅŒ–ๅ›ž่ทฏใฎ็ฌฌ๏ผ’ใฎ้…ต็ด ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆenoyl-CoA hydratase๏ผšLCEH๏ผ‰ใ€็ฌฌ๏ผ“ใฎ 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆ3-hydroxyacyl-CoA dehydrogenase๏ผšLCHAD๏ผ‰ใ€็ฌฌ๏ผ”ใฎ3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆ3-ketoacyl-CoA thiolase๏ผšLCKT๏ผ‰ใฎ๏ผ“ใคใฎๆฉŸ่ƒฝใ‚’ๆŒใฃใŸไธ‰้ ญ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใงใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ๅนผๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ—้ชจๆ ผ็ญ‹็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง่จบๆ–ญใ•ใ‚ŒใŸใ€ๅˆใฏๅฎถๆ—ๆคœ็ดขใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็„ก็—‡็Šถใฎ็—‡ไพ‹ใฏใฉใฎ็—…ๅž‹ใ‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใพใงใ€็™บ็—‡ๅ‰ๅž‹ใจๆšซๅฎš็š„ใซๅˆ†้กžใ™ใ‚‹ใ€‚ - 1200974 - + + 317 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎฮฒ-้…ธๅŒ–็ณปใฎใ†ใกใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซ็ตๅˆใ—ใŸ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ๅ›ž่ทฏใ‚’ๅฝขๆˆใ™ใ‚‹๏ผ’้…ต็ด ใฎ๏ผ‘ใคใงใ€้•ท้Ž–่„‚่‚ช้…ธฮฒ้…ธๅŒ–ๅ›ž่ทฏใฎ็ฌฌ๏ผ’ใฎ้…ต็ด ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆenoyl-CoA hydratase๏ผšLCEH๏ผ‰ใ€็ฌฌ๏ผ“ใฎ 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆ3-hydroxyacyl-CoA dehydrogenase๏ผšLCHAD๏ผ‰ใ€็ฌฌ๏ผ”ใฎ3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆ3-ketoacyl-CoA thiolase๏ผšLCKT๏ผ‰ใฎ๏ผ“ใคใฎๆฉŸ่ƒฝใ‚’ๆŒใฃใŸไธ‰้ ญ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใงใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ๅนผๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ—้ชจๆ ผ็ญ‹็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง่จบๆ–ญใ•ใ‚ŒใŸใ€ๅˆใฏๅฎถๆ—ๆคœ็ดขใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็„ก็—‡็Šถใฎ็—‡ไพ‹ใฏใฉใฎ็—…ๅž‹ใ‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใพใงใ€็™บ็—‡ๅ‰ๅž‹ใจๆšซๅฎš็š„ใซๅˆ†้กžใ™ใ‚‹ใ€‚ + NANDO:1200974 + Trifunctional protein deficiency + ใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + - - Mitochondrialย Trifunctional protein deficiency - TFP + + TFP deficiency + mitochondrial trifunctional protein deficiency ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ - - 317 - 1200975 - - Trifunctional protein deficiency,lethal type + + 317 + NANDO:1200975 + + Trifunctional protein deficiency, lethal type + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + - + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ - - 317 - 1200976 - - Trifunctional protein deficiency,intermediate type + + 317 + NANDO:1200976 + + Trifunctional protein deficiency, intermediate type + ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + - + ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ - - 317 - 1200977 - - Trifunctional protein deficiency,myopathic type + + 317 + NANDO:1200977 + + Trifunctional protein deficiency, myopathic type + ใกใฏใคใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + - + + ้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ - - 318 - ใ‚ทใƒˆใƒชใƒณใฏใ€่‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใƒปใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚Šใ€ใƒชใƒณใ‚ด้…ธใƒปใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‚ทใƒฃใƒˆใƒซใฎไธ€ๅ“กใจใ—ใฆใ€็ดฐ่ƒž่ณชใง็”Ÿใ˜ใŸNADHใฎ้‚„ๅ…ƒใ‚จใƒใƒซใ‚ฎใƒผใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธ่ผธ้€ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซNADHใ‚’็”ฃ็”Ÿใ™ใ‚‹ๅๅฟœใซ้–ขไธŽใ™ใ‚‹ใ€‚ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใงใฏๅนด้ฝขไพๅญ˜็š„ใซ๏ผ’ใคใฎ็—…ๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ใฎ็—…ๅž‹ใงใ‚ใ‚‹NICCD๏ผˆneonatal intrahepatic cholestasis caused by citrin deficiency๏ผ‰ๅŠใณๆˆไบบๆœŸใฎๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆCTLN2๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆฑใ‚ขใ‚ธใ‚ขใ‹ใ‚‰ๆฑๅ—ใ‚ขใ‚ธใ‚ขใง้ ปๅบฆใŒ้ซ˜ใใ€ๅฐ‘ๆ•ฐใชใŒใ‚‰ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฎไฟๅ› ่€…้ ปๅบฆใฏ1/65ใงใ‚ใ‚Šใ€็†่ซ–ไธŠใฎๆœ‰็—…็Ž‡ใฏ1/17,000ใจใชใ‚‹ใ€‚CTLN2ใฎ็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใฎ็ด„20๏ผ…ใฎๆ‚ฃ่€…ใŒCTLN2ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใจใชใ‚‹ใ€‚ - 1200978 - + + 318 + ใ‚ทใƒˆใƒชใƒณใฏใ€่‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใƒปใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚Šใ€ใƒชใƒณใ‚ด้…ธใƒปใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‚ทใƒฃใƒˆใƒซใฎไธ€ๅ“กใจใ—ใฆใ€็ดฐ่ƒž่ณชใง็”Ÿใ˜ใŸNADHใฎ้‚„ๅ…ƒใ‚จใƒใƒซใ‚ฎใƒผใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธ่ผธ้€ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซNADHใ‚’็”ฃ็”Ÿใ™ใ‚‹ๅๅฟœใซ้–ขไธŽใ™ใ‚‹ใ€‚ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใงใฏๅนด้ฝขไพๅญ˜็š„ใซ๏ผ’ใคใฎ็—…ๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ใฎ็—…ๅž‹ใงใ‚ใ‚‹NICCD๏ผˆneonatal intrahepatic cholestasis caused by citrin deficiency๏ผ‰ๅŠใณๆˆไบบๆœŸใฎๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆCTLN2๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆฑใ‚ขใ‚ธใ‚ขใ‹ใ‚‰ๆฑๅ—ใ‚ขใ‚ธใ‚ขใง้ ปๅบฆใŒ้ซ˜ใใ€ๅฐ‘ๆ•ฐใชใŒใ‚‰ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฎไฟๅ› ่€…้ ปๅบฆใฏ1/65ใงใ‚ใ‚Šใ€็†่ซ–ไธŠใฎๆœ‰็—…็Ž‡ใฏ1/17,000ใจใชใ‚‹ใ€‚CTLN2ใฎ็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใฎ็ด„20๏ผ…ใฎๆ‚ฃ่€…ใŒCTLN2ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใจใชใ‚‹ใ€‚ + NANDO:1200978 + Citrin deficiency + ใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ - + - - + ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ - - 318 - 1200979 - - neonatal intrahepatic cholestasis caused by citrin deficiency + + 318 + NANDO:1200979 + + Neonatal intrahepatic cholestasis caused by citrin deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ† ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ - + NICCD + NICCD ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ - - 318 - 1200980 - - adult-onset type II citrullinemia - ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ + + 318 + NANDO:1200980 + + Adult-onset type II citrullinemia + ใ›ใ„ใ˜ใ‚“ใฏใฃใ—ใ‚‡ใ†2ใŒใŸใ—ใจใ‚‹ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ - - + + + Adult-onset type II citrullinaemia CTLN2 + CTLN2 - ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ + ๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ - - 318 - 1200981 - + + 318 + NANDO:1200981 + Failure to thrive and dyslipidemia caused by citrin deficiency + ใฆใใŠใ†ใƒปใ ใ„ใ—ใ‚‡ใ†ใใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ - + FTTDCD + Failure to thrive and dyslipidaemia caused by citrin deficiency + ้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ - - 319 - ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใฏ๏ผ“็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธๆฐด้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎ็”Ÿๅˆๆˆใซ้–ขใ‚ใ‚‹SRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€BH4ใฎๆฌ ไนใ‚’ๆฅใ™้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ใ€‚่‚่‡“ใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใงBH4ใŒๅˆๆˆใ•ใ‚Œใ‚‹ใŸใ‚ใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใฏๆฅใ•ใชใ„ใŒใ€่„ณใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใŒๅผฑใๅฟ…่ฆใชBH4ใฏๅˆๆˆใ•ใ‚Œใชใ„ใŸใ‚ใ€ใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณๅŠใณใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€BH4ๆฌ ๆ็—‡ใจๅŒๆง˜ใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใŒใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใ‚’ๆฅใ•ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€่จบๆ–ญใจๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ‚ฃ่€…ๆ•ฐใฏใ€ๆœฌ้‚ฆใงใฏ2014ๅนดใซ็ฌฌ๏ผ‘ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใซ้ŽใŽใšใ€ไธ–็•Œใงใ‚‚50ไพ‹็จ‹ๅบฆใฎๆฅตใ‚ใฆใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1200982 - + + 319 + ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใฏ๏ผ“็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธๆฐด้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎ็”Ÿๅˆๆˆใซ้–ขใ‚ใ‚‹SRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€BH4ใฎๆฌ ไนใ‚’ๆฅใ™้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ใ€‚่‚่‡“ใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใงBH4ใŒๅˆๆˆใ•ใ‚Œใ‚‹ใŸใ‚ใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใฏๆฅใ•ใชใ„ใŒใ€่„ณใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใŒๅผฑใๅฟ…่ฆใชBH4ใฏๅˆๆˆใ•ใ‚Œใชใ„ใŸใ‚ใ€ใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณๅŠใณใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€BH4ๆฌ ๆ็—‡ใจๅŒๆง˜ใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใŒใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใ‚’ๆฅใ•ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€่จบๆ–ญใจๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ‚ฃ่€…ๆ•ฐใฏใ€ๆœฌ้‚ฆใงใฏ2014ๅนดใซ็ฌฌ๏ผ‘ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใซ้ŽใŽใšใ€ไธ–็•Œใงใ‚‚50ไพ‹็จ‹ๅบฆใฎๆฅตใ‚ใฆใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1200982 + Sepiapterin reductase deficiency + ใ›ใดใ‚ใทใฆใ‚Šใ‚“ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ - + SRD ๏ผณ๏ผฒๆฌ ๆ็—‡ ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ - - 320 - ็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚GPIใŒๆฌ ๆใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ใฎๅ…จใฆใฎ่›‹็™ฝ่ณชใŒ็ดฐ่ƒž่กจ้ขใซ็™บ็พใงใใชใ„ใ€‚็พๅœจใพใงใซ27ๅ€‹ใฎ้บไผๅญใŒGPIใ‚ขใƒณใ‚ซใƒผๅž‹่›‹็™ฝ่ณชใฎ็”Ÿๅˆๆˆใ‚„ใ€ไฟฎ้ฃพใซๅฟ…่ฆใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡๏ผˆInherited GPI deficienc๏ฝ™๏ผšIGD๏ผ‰ใŒๆฌกใ€…ใจ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€็พๅœจใพใงใซ15็จฎ้กžใฎ้บไผๅญใซใ‚ˆใ‚‹IGDใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 1200983 - - Inherited GPI deficiency + + 320 + ็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚GPIใŒๆฌ ๆใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ใฎๅ…จใฆใฎ่›‹็™ฝ่ณชใŒ็ดฐ่ƒž่กจ้ขใซ็™บ็พใงใใชใ„ใ€‚็พๅœจใพใงใซ27ๅ€‹ใฎ้บไผๅญใŒGPIใ‚ขใƒณใ‚ซใƒผๅž‹่›‹็™ฝ่ณชใฎ็”Ÿๅˆๆˆใ‚„ใ€ไฟฎ้ฃพใซๅฟ…่ฆใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡๏ผˆInherited GPI deficienc๏ฝ™๏ผšIGD๏ผ‰ใŒๆฌกใ€…ใจ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€็พๅœจใพใงใซ15็จฎ้กžใฎ้บไผๅญใซใ‚ˆใ‚‹IGDใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:1200983 + + Inherited glycosylphosphatidylinositol deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡ + + - - GPIๆฌ ๆ็—‡ + IGD + ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡ + ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡ - - 321 - ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใงใ‚ใ‚‹ใ‚ฐใƒชใ‚ทใƒณใ‚’ๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ—ใฆใ„ใ‚‹ใŸใ‚ใซไฝ“ๅ†…ใซใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒๆ•ฐๆ—ฅใงๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€ใชใฉ่„ณ็—‡ๆง˜ใฎ็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไธญๆžข็ฅž็ตŒ็ณปใฎ้šœๅฎณใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคง้ƒจๅˆ†ใ‚’ๅ ใ‚ใ€่‚่‡“ใ‚„่…Ž่‡“ใชใฉใฎไป–ใฎ่‡“ๅ™จ้šœๅฎณใฏๅŸบๆœฌ็š„ใซ่ชใ‚ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ€ฅๆ€งๆœŸใฎ็—‡็Šถใฏ้‡็ฏคใงใ‚ใ‚Šใ€ๅคง้ƒจๅˆ†ใฎ็—‡ไพ‹ใงไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใŒๅฟ…่ฆใซใชใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸใ‚’่„ฑใ—ใŸๅพŒใฏไธญๆžข็ฅž็ตŒใฎ้šœๅฎณใ‚’ๆฎ‹ใ™ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็™‚้คŠใŒๅฟ…่ฆใซใชใ‚‹ใ€‚็™บ็—‡ใซ็”ทๅฅณๅทฎใฏใชใใ€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็—‡้ ปๅบฆใฏ50๏ฝž100ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ - 1200984 - - nonketotic hyperglycinemia + + 321 + ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใงใ‚ใ‚‹ใ‚ฐใƒชใ‚ทใƒณใ‚’ๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ—ใฆใ„ใ‚‹ใŸใ‚ใซไฝ“ๅ†…ใซใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒๆ•ฐๆ—ฅใงๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€ใชใฉ่„ณ็—‡ๆง˜ใฎ็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไธญๆžข็ฅž็ตŒ็ณปใฎ้šœๅฎณใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคง้ƒจๅˆ†ใ‚’ๅ ใ‚ใ€่‚่‡“ใ‚„่…Ž่‡“ใชใฉใฎไป–ใฎ่‡“ๅ™จ้šœๅฎณใฏๅŸบๆœฌ็š„ใซ่ชใ‚ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ€ฅๆ€งๆœŸใฎ็—‡็Šถใฏ้‡็ฏคใงใ‚ใ‚Šใ€ๅคง้ƒจๅˆ†ใฎ็—‡ไพ‹ใงไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใŒๅฟ…่ฆใซใชใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸใ‚’่„ฑใ—ใŸๅพŒใฏไธญๆžข็ฅž็ตŒใฎ้šœๅฎณใ‚’ๆฎ‹ใ™ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็™‚้คŠใŒๅฟ…่ฆใซใชใ‚‹ใ€‚็™บ็—‡ใซ็”ทๅฅณๅทฎใฏใชใใ€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็—‡้ ปๅบฆใฏ50๏ฝž100ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200984 + + Nonketotic hyperglycinemia + ใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ + - - + + NKH + Nonketotic hyperglycinaemia ้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ - - 321 - 1200985 - + + 321 + NANDO:1200985 + Neonatal nonketotic hyperglycinemia + ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ - - + + + Neonatal nonketotic hyperglycinaemia + ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ - - 321 - 1200986 - - infantile nonketotic hyperglycinemia + + 321 + NANDO:1200986 + + Infantile nonketotic hyperglycinemia + ใซใ‚…ใ†ใ˜ใŒใŸใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ - - + + + Infantile nonketotic hyperglycinaemia + ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ - - 322 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆT2๏ผ‰ใฎๆฌ ๆ็—‡ใงใ€ๅๅพฉๆ€งใฎ้‡็ฏคใชใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใฎใ‚นใƒ†ใƒƒใƒ—ใจใ‚ฑใƒˆใƒณไฝ“ใฎ่‚่‡“ๅค–็ต„็น”ใงใฎๅˆฉ็”จใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ - 1200987 - - beta-ketothiolase deficiency + + 322 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆT2๏ผ‰ใฎๆฌ ๆ็—‡ใงใ€ๅๅพฉๆ€งใฎ้‡็ฏคใชใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใฎใ‚นใƒ†ใƒƒใƒ—ใจใ‚ฑใƒˆใƒณไฝ“ใฎ่‚่‡“ๅค–็ต„็น”ใงใฎๅˆฉ็”จใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1200987 + + Beta-ketothiolase deficiency ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + ในใƒผใŸใ‘ใจใกใŠใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 323 - ่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๏ผˆAromatic L-amino acid decarboxylase๏ผšAADC๏ผ‰ใฏL-ใƒ‰ใƒผใƒ‘๏ผˆL-DOPA๏ผ‰ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5โˆ’ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-hydroxytryptophan๏ผš5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใซๅฟ…้ ˆใฎ้…ต็ด ใงใ‚ใ‚‹ใ€‚ใใฎๆฌ ๆ็—‡ใฎๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžๅŠใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎใƒ›ใƒขใƒใƒชใƒ‹ใƒณ้…ธ๏ผˆhomovanillic acid๏ผšHVA๏ผ‰ๅŠใณใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใ‚คใƒณใƒ‰ใƒผใƒซ้…ข้…ธ๏ผˆ5-hydroxyindolacetic acid๏ผš5-HIAA๏ผ‰ใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎ็„กใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚ - 1200988 - + + 323 + ่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๏ผˆAromatic L-amino acid decarboxylase๏ผšAADC๏ผ‰ใฏL-ใƒ‰ใƒผใƒ‘๏ผˆL-DOPA๏ผ‰ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5โˆ’ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-hydroxytryptophan๏ผš5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใซๅฟ…้ ˆใฎ้…ต็ด ใงใ‚ใ‚‹ใ€‚ใใฎๆฌ ๆ็—‡ใฎๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžๅŠใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎใƒ›ใƒขใƒใƒชใƒ‹ใƒณ้…ธ๏ผˆhomovanillic acid๏ผšHVA๏ผ‰ๅŠใณใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใ‚คใƒณใƒ‰ใƒผใƒซ้…ข้…ธ๏ผˆ5-hydroxyindolacetic acid๏ผš5-HIAA๏ผ‰ใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎ็„กใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚ + NANDO:1200988 + Aromatic L-amino acid decarboxylase deficiency + ใปใ†ใ“ใ†ใžใใˆใ‚‹ใ‚ใฟใฎใ•ใ‚“ใ ใคใŸใ‚“ใ•ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡ + + - + ่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡ - - 324 - ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’ๆฅใ™็–พๆ‚ฃใ‚’็ทใ˜ใฆใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใฆใŠใ‚Šใ€็•ฐ่ณชๆ€งใŒ้ซ˜ใใ€็พๅœจ๏ผ•ใคใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ใฏใ€ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผใฏใƒญใ‚คใ‚ทใƒณไปฃ่ฌใฎ๏ผ•ๆฎต้šŽ็›ฎใซไฝ็ฝฎใ—ใ€Iๅž‹ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚IIๅž‹ใฏBarth็—‡ๅ€™็พคใ€IIIๅž‹ใฏCosteff็—‡ๅ€™็พคใซใ‚ใŸใ‚‹๏ผˆใใ‚Œใžใ‚ŒX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€‚ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’่ชใ‚ใชใŒใ‚‰ใ€Iใ€IIใ€IIIๅž‹ใซใ‚ใŸใ‚‰ใชใ„ใ‚‚ใฎใŒIVๅž‹ใจใ•ใ‚Œใ€็จฎใ€…ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธ็—‡ใŒIVๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใจๅฐ่„ณๅคฑ่ชฟใ‚’ไผดใ†็–พๆ‚ฃ็พค๏ผˆDCMA็—‡ๅ€™็พค๏ผ‰ใŒVๅž‹ใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ๏ผˆIVๅž‹ใ€Vๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจใ—ใฆๆ‰ฑใ†ใ€‚๏ผ‰ใ€‚ - 1200989 + + 324 + ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’ๆฅใ™็–พๆ‚ฃใ‚’็ทใ˜ใฆใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใฆใŠใ‚Šใ€็•ฐ่ณชๆ€งใŒ้ซ˜ใใ€็พๅœจ๏ผ•ใคใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ใฏใ€ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผใฏใƒญใ‚คใ‚ทใƒณไปฃ่ฌใฎ๏ผ•ๆฎต้šŽ็›ฎใซไฝ็ฝฎใ—ใ€Iๅž‹ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚IIๅž‹ใฏBarth็—‡ๅ€™็พคใ€IIIๅž‹ใฏCosteff็—‡ๅ€™็พคใซใ‚ใŸใ‚‹๏ผˆใใ‚Œใžใ‚ŒX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€‚ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’่ชใ‚ใชใŒใ‚‰ใ€Iใ€IIใ€IIIๅž‹ใซใ‚ใŸใ‚‰ใชใ„ใ‚‚ใฎใŒIVๅž‹ใจใ•ใ‚Œใ€็จฎใ€…ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธ็—‡ใŒIVๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใจๅฐ่„ณๅคฑ่ชฟใ‚’ไผดใ†็–พๆ‚ฃ็พค๏ผˆDCMA็—‡ๅ€™็พค๏ผ‰ใŒVๅž‹ใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ๏ผˆIVๅž‹ใ€Vๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจใ—ใฆๆ‰ฑใ†ใ€‚๏ผ‰ใ€‚ + NANDO:1200989 Methylglutaconic aciduria + ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ + - + + ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ - - 324 - 1200990 - + + 324 + NANDO:1200990 + 3-methylglutaconic aciduria type I + ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ - + 3-methylglutaconyl-CoA hydratase deficiency ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ - - 324 - 1200991 - + + 324 + NANDO:1200991 + 3-methylglutaconicaciduria type II + ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†2ใŒใŸ ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹ - + Barth syndrome Barth็—‡ๅ€™็พค ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹ - - 324 - 1200992 - + + 324 + NANDO:1200992 + 3-methylglutaconic aciduria type III + ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†3ใŒใŸ ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹ - + Costeff syndrome Costeff็—‡ๅ€™็พค ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹ - - 325 - ้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฏใ€่‡ช็„ถๅ…็–ซ็ณปใซ้–ขใ‚ใ‚‹้บไผๅญ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใ€็”Ÿๆถฏใซใ‚ใŸใ‚ŠๆŒ็ถšใ™ใ‚‹็‚Ž็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆˆไบบๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹็–พ็—…ใฎใ†ใกใ€ๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พคใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€้ซ˜IgD็—‡ๅ€™็พคใ€ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พคใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ‚’้™คใ„ใŸใ€NLRC๏ผ”็•ฐๅธธ็—‡ใ€ADA๏ผ’๏ผˆAdenosine deaminase ๏ผ’๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค๏ผˆAicardi-Goutiรจresใ€€Syndrome๏ผšAGS๏ผ‰ใ€A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ADA๏ผ’ๆฌ ๆ็—‡ใงใฏใ€ไธปใซไธญๅ‹•่„ˆใซ็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใซ้กžไผผใ—ใŸๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พคใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ‚ใ‚Šใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใฏใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชA20ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅๅพฉๆ€งๅฃ่…”ๅ†…ใ‚ขใƒ•ใ‚ฟใ€็™บ็†ฑใ€้–ข็ฏ€็—›ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜็ญ‰ใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…้กžไผผ็—‡็Šถใ‚’่‹ฅๅนดใง็™บ็—‡ใ™ใ‚‹ใ€‚ - 1200993 + + 325 + ้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฏใ€่‡ช็„ถๅ…็–ซ็ณปใซ้–ขใ‚ใ‚‹้บไผๅญ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใ€็”Ÿๆถฏใซใ‚ใŸใ‚ŠๆŒ็ถšใ™ใ‚‹็‚Ž็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆˆไบบๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹็–พ็—…ใฎใ†ใกใ€ๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พคใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€้ซ˜IgD็—‡ๅ€™็พคใ€ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พคใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ‚’้™คใ„ใŸใ€NLRC๏ผ”็•ฐๅธธ็—‡ใ€ADA๏ผ’๏ผˆAdenosine deaminase ๏ผ’๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค๏ผˆAicardi-Goutiรจresใ€€Syndrome๏ผšAGS๏ผ‰ใ€A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ADA๏ผ’ๆฌ ๆ็—‡ใงใฏใ€ไธปใซไธญๅ‹•่„ˆใซ็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใซ้กžไผผใ—ใŸๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พคใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ‚ใ‚Šใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใฏใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชA20ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅๅพฉๆ€งๅฃ่…”ๅ†…ใ‚ขใƒ•ใ‚ฟใ€็™บ็†ฑใ€้–ข็ฏ€็—›ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜็ญ‰ใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…้กžไผผ็—‡็Šถใ‚’่‹ฅๅนดใง็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:1200993 Hereditary autoinflammatory syndrome + ใ„ใงใ‚“ใ›ใ„ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ—ใฃใ‹ใ‚“ ้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ - + hereditary autoinflammatory diseases + ้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ - - 325 - 1200994 - - NLRC4 inflammasomopathies + + 325 + NANDO:1200994 + + NLRC4 mutation NLRC๏ผ”็•ฐๅธธ็—‡ + ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใ—ใƒผ4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + NLRC๏ผ”็•ฐๅธธ็—‡ - - 325 - 1200995 - - ADA๏ผ’ๆฌ ๆ็—‡ + + 325 + NANDO:1200995 + + ADA2ๆฌ ๆ็—‡ Adenosine deaminase 2 deficiency - + ใˆใƒผใงใƒใƒผใˆใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - - ADA๏ผ’ๆฌ ๆ็—‡ - - - 325 - 1200996 - - Aicardi-Goutiรจresใ€€Syndrome + + ADA2ๆฌ ๆ็—‡ + + + 325 + NANDO:1200996 + + Aicardi-Goutiรจres Syndrome + ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค - + + - + AGS - ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค - - 325 - 1200997 - + + 325 + NANDO:1200997 + A20 haploinsufficiency A20ใƒใƒ—ใƒญไธๅ…จ็—‡ + ใˆใƒผ20ใฏใทใ‚ใตใœใ‚“ใ—ใ‚‡ใ† + - + + A20ใƒใƒ—ใƒญไธๅ…จ็—‡ - - 326 - ๅคง็†็Ÿณ้ชจ็—…ใฏใ€็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚‹้ชจๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็ ด้ชจ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ใฏๅคš็›ธใงใ‚ใ‚‹ใŸใ‚ใ€้บไผ็š„็•ฐ่ณชๆ€งใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€็—‡็Šถใ‚‚ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹๏ผไนณๅ…ๅž‹ใ€ไธญ็ญ‰ๅบฆใฎไธญ้–“ๅž‹ใ€่ปฝ็—‡ใฎ้…็™บๅž‹ใพใงๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ๆœช็†Ÿ้ชจ๏ผˆไธ€ๆฌก้ชจๆข๏ผ‰ใฎๆˆ็†Ÿ้ชจ๏ผˆ็ทปๅฏ†้ชจ๏ผ‰ใธใฎ็ฝฎๆ›ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœใ€ๆœช็†Ÿ้ชจใง่ฆ†ใ„ๅฐฝใใ•ใ‚ŒใŸ้ชจใฏ็กฌๅŒ–ใ—ใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่„†ใ„ใ€‚ใพใŸใ€้Žๅ‰ฐใชๆœช็†Ÿ้ชจใฏ้ชจ้ซ„่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€้ชจ้ซ„ๆฉŸ่ƒฝไธๅ…จ๏ผˆ่ฒง่ก€ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่‚่„พ่…ซใชใฉ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ญ่“‹ๅบ•ใฎ้ชจ่‚ฅๅŽšใซใ‚ˆใ‚‹่„ณ็ฅž็ตŒ็—‡็Šถ๏ผˆ้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€้ก”้ข็ฅž็ตŒ้บป็—บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 1200998 - + + 326 + ๅคง็†็Ÿณ้ชจ็—…ใฏใ€็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚‹้ชจๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็ ด้ชจ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ใฏๅคš็›ธใงใ‚ใ‚‹ใŸใ‚ใ€้บไผ็š„็•ฐ่ณชๆ€งใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€็—‡็Šถใ‚‚ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹๏ผไนณๅ…ๅž‹ใ€ไธญ็ญ‰ๅบฆใฎไธญ้–“ๅž‹ใ€่ปฝ็—‡ใฎ้…็™บๅž‹ใพใงๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ๆœช็†Ÿ้ชจ๏ผˆไธ€ๆฌก้ชจๆข๏ผ‰ใฎๆˆ็†Ÿ้ชจ๏ผˆ็ทปๅฏ†้ชจ๏ผ‰ใธใฎ็ฝฎๆ›ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœใ€ๆœช็†Ÿ้ชจใง่ฆ†ใ„ๅฐฝใใ•ใ‚ŒใŸ้ชจใฏ็กฌๅŒ–ใ—ใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่„†ใ„ใ€‚ใพใŸใ€้Žๅ‰ฐใชๆœช็†Ÿ้ชจใฏ้ชจ้ซ„่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€้ชจ้ซ„ๆฉŸ่ƒฝไธๅ…จ๏ผˆ่ฒง่ก€ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่‚่„พ่…ซใชใฉ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ญ่“‹ๅบ•ใฎ้ชจ่‚ฅๅŽšใซใ‚ˆใ‚‹่„ณ็ฅž็ตŒ็—‡็Šถ๏ผˆ้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€้ก”้ข็ฅž็ตŒ้บป็—บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:1200998 + Osteopetrosis + ใ ใ„ใ‚Šใ›ใใ“ใคใณใ‚‡ใ† ๅคง็†็Ÿณ้ชจ็—… + - + ๅคง็†็Ÿณ้ชจ็—… - - 327 - ็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ - 1200999 - - Idiopathic thrombosis ๏ผˆinherited cause of thrombosis๏ผ‰๏ผˆneonates, infants๏ผ‰ + + 327 + ็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ + NANDO:1200999 + + Idiopathic thrombosis (due to inherited predisposition to thrombosis) (neonates, infants) + ใจใใฏใคใ›ใ„ใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ† ็‰น็™บๆ€ง่ก€ๆ “็—‡ - - Idiopathic thrombosis + ็‰น็™บๆ€ง่ก€ๆ “็—‡ - - 328 - ๅ‰็œผ้ƒจใฎ็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๆ€งใซ่ง’่†œๆททๆฟใ‚’ๆฅใ—ใ€่ฆ–ๅŠ›้šœๅฎณใ€่ฆ–ๆฉŸ่ƒฝ็™บ้”็•ฐๅธธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 1201000 - + + 328 + ๅ‰็œผ้ƒจใฎ็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๆ€งใซ่ง’่†œๆททๆฟใ‚’ๆฅใ—ใ€่ฆ–ๅŠ›้šœๅฎณใ€่ฆ–ๆฉŸ่ƒฝ็™บ้”็•ฐๅธธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:1201000 + Anterior segment dysgenesis + ใœใ‚“ใŒใ‚“ใถใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ† ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ - + - + ASGD1 - ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ - - 329 - ็„ก่™นๅฝฉ็—‡ใฏ่™นๅฝฉใŒๅฎŒๅ…จใพใŸใฏไธๅฎŒๅ…จใซๆฌ ๆใ—ใฆใ„ใ‚‹ใ“ใจใง่ฆ‹ๅ‡บใ•ใ‚Œใ‚‹้บไผๆ€ง็–พ็—…ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚่ฒฌไปป้บไผๅญใฏPAX6้บไผๅญใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰ไธก็œผๆ€งใฎๅผทใ„่ฆ–ๅŠ›ไธ่‰ฏใ‚’่ชใ‚ใ€ๅคงๅŠใŒ่ฆ–่ฆš้šœๅฎณๅ…ใจใชใ‚‹ใ€‚ๆœฌ็–พ็—…ใฎ็™บ็—‡้ ปๅบฆใฏ10ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏใชใ„ใ€‚ๆ‚ฃ่€…ใฎ๏ผ˜ๅ‰ฒ็จ‹ๅบฆใŒๅฎถๆ—ๆ€งใซ็™บ็—‡ใ—ใฆใŠใ‚Šใ€ๆฎ‹ใ‚‹๏ผ’ๅ‰ฒใฏๆ•ฃ็™บๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€‚ - 1201001 - + + 329 + ็„ก่™นๅฝฉ็—‡ใฏ่™นๅฝฉใŒๅฎŒๅ…จใพใŸใฏไธๅฎŒๅ…จใซๆฌ ๆใ—ใฆใ„ใ‚‹ใ“ใจใง่ฆ‹ๅ‡บใ•ใ‚Œใ‚‹้บไผๆ€ง็–พ็—…ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚่ฒฌไปป้บไผๅญใฏPAX6้บไผๅญใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰ไธก็œผๆ€งใฎๅผทใ„่ฆ–ๅŠ›ไธ่‰ฏใ‚’่ชใ‚ใ€ๅคงๅŠใŒ่ฆ–่ฆš้šœๅฎณๅ…ใจใชใ‚‹ใ€‚ๆœฌ็–พ็—…ใฎ็™บ็—‡้ ปๅบฆใฏ10ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏใชใ„ใ€‚ๆ‚ฃ่€…ใฎ๏ผ˜ๅ‰ฒ็จ‹ๅบฆใŒๅฎถๆ—ๆ€งใซ็™บ็—‡ใ—ใฆใŠใ‚Šใ€ๆฎ‹ใ‚‹๏ผ’ๅ‰ฒใฏๆ•ฃ็™บๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:1201001 + Aniridia + ใ‚€ใ“ใ†ใ•ใ„ใ—ใ‚‡ใ† ็„ก่™นๅฝฉ็—‡ - + ็„ก่™นๅฝฉ็—‡ - - 330 - ๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅ–‰้ ญ๏ผ‰ใจไธ‹ๆฐ—้“๏ผˆๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏๅฃฐ้–€ไธ‹่…”ใ‚„ๆฐ—็ฎกใซๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ใ‚„ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚ๅคšใใŒๆ•‘ๅ‘ฝใฎใŸใ‚็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใฏ้™คใใ€‚ - 1201002 + + 330 + ๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅ–‰้ ญ๏ผ‰ใจไธ‹ๆฐ—้“๏ผˆๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏๅฃฐ้–€ไธ‹่…”ใ‚„ๆฐ—็ฎกใซๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ใ‚„ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚ๅคšใใŒๆ•‘ๅ‘ฝใฎใŸใ‚็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใฏ้™คใใ€‚ + NANDO:1201002 Congenital tracheal stenosis/Congenital Subglottic Stenosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†๏ผใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ - + ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ - - 330 - 1201003 - + + 330 + NANDO:1201003 + Congenital tracheal stenosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ - + - + CTS - - ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ - - 330 - 1201004 - + + 330 + NANDO:1201004 + Congenital Subglottic Stenosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ - + ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ - - 331 - ใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ๏ผŒใƒชใƒณใƒ‘็ฏ€ใฎ็—…็†็ต„็น”ๅƒใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅคšใ‚ฏใƒญใƒผใƒณๆ€งใฎใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็—…ๅค‰ใŒ1ใคใฎ้ ˜ๅŸŸใซ้™ๅฑ€ใ™ใ‚‹ๅ˜ไธญๅฟƒๆ€ง๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใจ๏ผŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซๅบƒใŒใ‚‹ๅคšไธญๅฟƒๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚‰ใฏ่‡จๅบŠๅƒใ‚„ๆฒป็™‚ๆณ•ใŒๅคงใใ็•ฐใชใ‚‹ใ€‚ๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฎใ†ใกใ€ใƒ’ใƒˆใƒปใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผ˜ๅž‹ๆ„ŸๆŸ“ใŒใฟใ‚‰ใ‚Œใชใ„ๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใŒ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใจใ—ใฆๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใฆๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ้ซ˜ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณ๏ผ–่ก€็—‡ใซใ‚ˆใ‚‹็™บ็†ฑใ‚„ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€่ฒง่ก€ใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšใใฎๅ ดๅˆใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ - 1201005 - + + 331 + ใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ๏ผŒใƒชใƒณใƒ‘็ฏ€ใฎ็—…็†็ต„็น”ๅƒใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅคšใ‚ฏใƒญใƒผใƒณๆ€งใฎใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็—…ๅค‰ใŒ1ใคใฎ้ ˜ๅŸŸใซ้™ๅฑ€ใ™ใ‚‹ๅ˜ไธญๅฟƒๆ€ง๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใจ๏ผŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซๅบƒใŒใ‚‹ๅคšไธญๅฟƒๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚‰ใฏ่‡จๅบŠๅƒใ‚„ๆฒป็™‚ๆณ•ใŒๅคงใใ็•ฐใชใ‚‹ใ€‚ๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฎใ†ใกใ€ใƒ’ใƒˆใƒปใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผ˜ๅž‹ๆ„ŸๆŸ“ใŒใฟใ‚‰ใ‚Œใชใ„ๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใŒ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใจใ—ใฆๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใฆๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ้ซ˜ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณ๏ผ–่ก€็—‡ใซใ‚ˆใ‚‹็™บ็†ฑใ‚„ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€่ฒง่ก€ใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšใใฎๅ ดๅˆใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ + NANDO:1201005 + Idiopathic multicentric Castleman's disease + ใจใใฏใคใ›ใ„ใŸใกใ‚…ใ†ใ—ใ‚“ใ›ใ„ใใ‚ƒใฃใ™ใ‚‹ใพใ‚“ใณใ‚‡ใ† ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—… - - + ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—… - - 332 - ่ง’่†œๅฎŸ่ณชใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็œผ็—›ใชใฉใฎไธๅฟซๆ„Ÿใจใจใ‚‚ใซ่‘—ๆ˜Žใช่ฆ–ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบๅ”†ใ™ใ‚‹ๅฎถๆ—ๆญด(ๅ…„ๅผŸๅง‰ๅฆน้–“ใฎๅฎถ็ณปๅ†…็™บ็—‡ใ€ไธก่ฆชใฎ่ก€ๆ—ๅฉšใชใฉ)ใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ€TACSTD2้บไผๅญใฎไธกใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๆ€งๅค‰็•ฐใซใ‚ˆใ‚‹่ง’่†œไธŠ็šฎใƒใƒชใ‚ขๆฉŸ่ƒฝใฎ็ ด็ถปใŒๅŽŸๅ› ใจใ•ใ‚Œใ‚‹ใ€‚ - 1201006 - - gelatinous drop-like corneal dystrophy + + 332 + ่ง’่†œๅฎŸ่ณชใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็œผ็—›ใชใฉใฎไธๅฟซๆ„Ÿใจใจใ‚‚ใซ่‘—ๆ˜Žใช่ฆ–ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบๅ”†ใ™ใ‚‹ๅฎถๆ—ๆญด(ๅ…„ๅผŸๅง‰ๅฆน้–“ใฎๅฎถ็ณปๅ†…็™บ็—‡ใ€ไธก่ฆชใฎ่ก€ๆ—ๅฉšใชใฉ)ใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ€TACSTD2้บไผๅญใฎไธกใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๆ€งๅค‰็•ฐใซใ‚ˆใ‚‹่ง’่†œไธŠ็šฎใƒใƒชใ‚ขๆฉŸ่ƒฝใฎ็ ด็ถปใŒๅŽŸๅ› ใจใ•ใ‚Œใ‚‹ใ€‚ + NANDO:1201006 + + Gelatinous drop-like corneal dystrophy + ใ“ใ†ใ‚ˆใ†ใฆใใ˜ใ‚‡ใ†ใ‹ใใพใใ˜ใ™ใจใ‚ใตใƒใƒผ ่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + ่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 333 - ้บไผๆ€งๆ—ฉ่€็—‡ใฎไธญใงๆœ€ใ‚‚็—‡็ŠถใŒ้‡็ฏคใช็–พๆ‚ฃใ€‚็”ŸๅพŒๅŠๅนดใ‹ใ‚‰๏ผ’ๅนดใงๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽๅŠใณๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณๅŠใณๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ14.6ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้›ฃ็—…็ ”็ฉถ็ญใฎๅ…จๅ›ฝ่ชฟๆŸปใง็ด„10ไบบใฎๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚ŒใฆใŠใ‚Šใ€ๆˆไบบไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ๅ›ฝๅ†…ใง20ๆญณใ‚’่ถ…ใˆใŸ็”Ÿๅญ˜ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบๆœŸใฎๅˆไฝต็—‡ใง้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใจใ—ใฆใฏใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃๅŠใณๅคš้‡ใŒใ‚“ใŒใ‚ใ‚Šใ€็‰นใซ่„ณ่ก€็ฎก้šœๅฎณใซใคใ„ใฆใฏ็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ™ใ‚‹ใจใ„ใ†็‰นๅพดใ‚’ๆŒใคใ€‚ - 1201007 - + + 333 + ้บไผๆ€งๆ—ฉ่€็—‡ใฎไธญใงๆœ€ใ‚‚็—‡็ŠถใŒ้‡็ฏคใช็–พๆ‚ฃใ€‚็”ŸๅพŒๅŠๅนดใ‹ใ‚‰๏ผ’ๅนดใงๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽๅŠใณๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณๅŠใณๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ14.6ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้›ฃ็—…็ ”็ฉถ็ญใฎๅ…จๅ›ฝ่ชฟๆŸปใง็ด„10ไบบใฎๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚ŒใฆใŠใ‚Šใ€ๆˆไบบไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ๅ›ฝๅ†…ใง20ๆญณใ‚’่ถ…ใˆใŸ็”Ÿๅญ˜ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบๆœŸใฎๅˆไฝต็—‡ใง้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใจใ—ใฆใฏใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃๅŠใณๅคš้‡ใŒใ‚“ใŒใ‚ใ‚Šใ€็‰นใซ่„ณ่ก€็ฎก้šœๅฎณใซใคใ„ใฆใฏ็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ™ใ‚‹ใจใ„ใ†็‰นๅพดใ‚’ๆŒใคใ€‚ + NANDO:1201007 + Hutchinson-Gilford syndrome + ใฏใฃใกใ‚“ใใ‚“ใƒปใŽใ‚‹ใตใ‰ใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค + - + ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค - - 2000001 - specific chronic pediatric disease + + 44 + NANDO:1201008 + + Limited form of granulomatosis with polyangiitis + ใ’ใ‚“ใใ‚‡ใใŒใŸใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† + ้™ๅฑ€ๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + + + ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ + + ้™ๅฑ€ๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + 44 + NANDO:1201009 + + Systemic granulomatosis with polyangiitis + ใœใ‚“ใ—ใ‚“ใŒใŸใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† + ๅ…จ่บซๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + + + ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆๅ…จ่บซๅž‹๏ผ‰ + + ๅ…จ่บซๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + 51 + NANDO:1201010 + + Diffuse cutaneous systemic sclerosis + ใณใพใ‚“ใฒใตใ“ใ†ใ‹ใŒใŸใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ† + ใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ + + + + dcSSc + + ใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ + + + 51 + NANDO:1201011 + + Limited cutaneous systemic sclerosis + ใ’ใ‚“ใใ‚‡ใใฒใตใ“ใ†ใ‹ใŒใŸใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ† + ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ + + + + lcSSc + + + ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ + + + 54 + NANDO:1201012 + + Monocyclic Adult onset Still's disease + ใŸใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ† + ๅ˜ๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—… + + + + monocyclic AOSD + ๆˆไบบใ‚นใƒใƒซ็—…๏ผˆ่‡ช็„ถๅฏ›่งฃใ‚’็คบใ™ใ‚‚ใฎ๏ผ‰ + + ๅ˜ๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—… + + + 54 + NANDO:1201013 + + Polycyclic Adult onset Still's disease + ใŸใ—ใ‚…ใ†ใใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ† + ๅคšๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—… + + + + polycyclic AOSD + + ๅคšๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—… + + + 54 + NANDO:1201014 + + Chronic articular Adult onset Still's disease + ใพใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ† + ๆ…ขๆ€ง้–ข็ฏ€ๅž‹ๆˆไบบใ‚นใƒใƒซ็—… + + + + ๆ…ขๆ€ง้–ข็ฏ€ๅž‹ๆˆไบบใ‚นใƒใƒซ็—… + + + 56 + NANDO:1201015 + + Vascular Behรงet's Disease + ใ‘ใฃใ‹ใ‚“ใŒใŸในใƒผใกใ‡ใฃใจใณใ‚‡ใ† + ่ก€็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + + ่ก€็ฎกใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + ่ก€็ฎกๅž‹Behรงet็—… + ่ก€็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + 56 + NANDO:1201016 + + Intestinal Behรงet's Disease + ใกใ‚‡ใ†ใ‹ใ‚“ใŒใŸในใƒผใกใ‡ใฃใจใณใ‚‡ใ† + ่…ธ็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + + ่…ธ็ฎกใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + ่…ธ็ฎกๅž‹Behรงet็—… + ่…ธ็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + 56 + NANDO:1201017 + + Neuro-Behรงet's Disease + ใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ† + ็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + + ็ฅž็ตŒBehรงet็—… + ็ฅž็ตŒๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + ็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + 257 + NANDO:1201018 + + Hepatic Glycogen storage disease type I + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…Iๅž‹ + + + + + ่‚ๅž‹็ณ–ๅŽŸ็—…Iๅž‹ + + + 257 + NANDO:1201019 + + Hepatic Glycogen storage disease type III + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹ + + + + + + ่‚ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹ + + + 257 + NANDO:1201020 + + Hepatic Glycogen storage disease type IX + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IXๅž‹ + + + + + ่‚ๅž‹็ณ–ๅŽŸ็—…IXๅž‹ + + + 299 + NANDO:1201021 + + Cystic fibrosis + ใฒใฎใ†ใปใ†ใ›ใ‚“ใ„ใ—ใ‚‡ใ† + ่†ตๅ›Š่ƒž็ทš็ถญ็—‡ + + + + + CF + Pancreatic cystic fibrosis + ๅšข่ƒžๆ€ง็ทš็ถญ็—‡ + + ่†ตๅ›Š่ƒž็ทš็ถญ็—‡ + + + 310 + NANDO:1201022 + + Micro-deletion syndrome and other syndromes + ใณใ•ใ„ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใจใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค + + + + + ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค + + + NANDO:1201023 + obsolete Micro-deletion syndrome and other syndromes + obsolete ใณใ•ใ„ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใจใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + obsolete ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค + + true + obsolete ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค + + + 14 + NANDO:1201024 + + Monophasic chronic inflammatory demyelinating polyneuropathy + ใŸใ‚“ใใ†ใŒใŸใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“ + ๅ˜็›ธๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + + + + ๅ˜็›ธๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + + + 14 + NANDO:1201025 + + Multifocal chronic inflammatory demyelinating polyneuropathy + ใŸใใ†ใ›ใ„ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“ + ๅคš็›ธๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + + + + ๅ†็™บๅฏ›่งฃๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + ๅคš็›ธๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + + + 14 + NANDO:1201026 + + Chronic progressive chronic inflammatory demyelinating polyneuropathy + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใ›ใ„ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“ + ๆ…ขๆ€ง้€ฒ่กŒๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + + + + ๆ…ขๆ€ง้€ฒ่กŒๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + + + 56 + NANDO:1201027 + + Chronic progressive Neuro-Behรงet's disease + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ† + ๆ…ขๆ€ง้€ฒ่กŒๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + + + + ๆ…ขๆ€ง้€ฒ่กŒๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + 56 + NANDO:1201028 + + Acute Neuro-Behรงet's disease + ใใ‚…ใ†ใ›ใ„ใŒใŸใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ† + ๆ€ฅๆ€งๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + + acute NB + ๆ€ฅๆ€งๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… + + + 223 + NANDO:1201029 + + Mesangial proliferative glomerulonephritis + ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + + + MesPGN + ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง่…Ž็‚Žๅž‹ + + ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1201030 + + Chronic diffuse membranoproliferative glomerulonephritis type I + ใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + + + + ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + 223 + NANDO:1201031 + + Acute diffuse membranoproliferative glomerulonephritis type I + ใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ + ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + + ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + + + NANDO:2000001 + Specific pediatric chronic disease + ใ—ใ‚‡ใ†ใซใพใ‚“ใ›ใ„ใจใใฆใ„ใ—ใฃใบใ„ ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—… - + ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—… - - 2100001 + + NANDO:2100001 Malignant neoplasms + ใ‚ใใ›ใ„ใ—ใ‚“ใ›ใ„ใถใค ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ - + ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ - - 2100002 - leukemia + + NANDO:2100002 + Leukemia + ใฏใฃใ‘ใคใณใ‚‡ใ† ็™ฝ่ก€็—… - + + Leukaemia + + ็™ฝ่ก€็—… - - 2100003 + + NANDO:2100003 Myelodysplastic syndrome + ใ“ใคใšใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค - - + + + + MDS + + ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค - - 2100004 + + NANDO:2100004 Lymphoma + ใ‚Šใ‚“ใฑใ—ใ‚… ใƒชใƒณใƒ‘่…ซ - + + + + ใƒชใƒณใƒ‘่…ซ - - 2100005 + + NANDO:2100005 Histiocytosis + ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ† ็ต„็น”็ƒ็—‡ - + + ็ต„็น”็ƒ็—‡ - - 2100006 + + NANDO:2100006 Solid tumor (excluding solid tumour of the central nervous system) + ใ“ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†ใ‚’ใฎใžใใ€‚๏ผ‰ ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰ - + ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰ - - 2100007 + + NANDO:2100007 Central nervous system tumors + ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ† ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ - + + CNS tumors + ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ - - 2100008 + + NANDO:2100008 Chronic kidney disease + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ—ใฃใ‹ใ‚“ ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ - + + CKD + ๆ…ขๆ€ง่…Ž่‡“็—… + ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ - - 2100009 + + NANDO:2100009 Nephrotic syndrome + ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - + + ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - - 2100010 + + NANDO:2100010 Chronic glomerulonephritis + ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - + ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 2100011 + + NANDO:2100011 Chronic tubulointerstitial nephritis (excluding urinary tract malformation) + ใพใ‚“ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใซใ‚‡ใ†ใ‚ใใ‘ใ„ใŒใ’ใ‚“ใ„ใ‚“ใฎใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰ ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ - + ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ - - 2100012 + + NANDO:2100012 Chronic pyelonephritis + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ†ใ˜ใ‚“ใˆใ‚“ ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž - + + + ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž - - 2100013 + + NANDO:2100013 Amyloid nephropathy + ใ‚ใฟใ‚ใ„ใฉใ˜ใ‚“ ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž - + + ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž - - 2100014 - Familial juvenile hyperuricaemic nephropathy + + NANDO:2100014 + Familial juvenile hyperuricemic nephropathy + ใ‹ใžใใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใ†ใซใ‚‡ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡ - - + + + + FJHN + Familial juvenile hyperuricaemic nephropathy + ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡ - - 2100015 + + NANDO:2100015 Nephronophthisis + ใญใตใ‚ใ‚“ใ‚ใ† ใƒใƒ•ใƒญใƒณ็™† - - + + + + NPH + ใƒใƒ•ใƒญใƒณ็™† - - 2100016 + + NANDO:2100016 Renovascular hypertension + ใ˜ใ‚“ใ‘ใฃใ‹ใ‚“ใ›ใ„ใ“ใ†ใ‘ใคใ‚ใค ่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง - - ่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง + + + + + ่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง - - 2100017 + + NANDO:2100017 Renal vein thrombosis + ใ˜ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ† ่…Ž้™่„ˆ่ก€ๆ “็—‡ - + + ่…Ž้™่„ˆ่ก€ๆ “็—‡ - - 2100018 + + NANDO:2100018 Renal arteriovenous fistula + ใ˜ใ‚“ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ† ่…Žๅ‹•้™่„ˆ็˜ป - + + ่…Žๅ‹•้™่„ˆ็˜ป - - 2100019 + + NANDO:2100019 Renal tubular acidosis + ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ›ใ„ใ‚ใ—ใฉใƒผใ—ใ™ ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - + + + + RTA + ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 2100020 - Gitelman Bartter syndrome - ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ๏ผˆGitelman๏ผ‰็—‡ๅ€™็พค - - ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ๏ผˆGitelman๏ผ‰็—‡ๅ€™็พค - - - 2100021 - Bartter Gitelman syndrome - ใƒใƒผใ‚ฟใƒผ๏ผˆBartter๏ผ‰็—‡ๅ€™็พค - - ใƒใƒผใ‚ฟใƒผ๏ผˆBartter๏ผ‰็—‡ๅ€™็พค - - - 2100022 + + NANDO:2100020 + Gitelman syndrome + ใŽใฃใฆใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค + + + + + Gitelman็—‡ๅ€™็พค + + ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค + + + NANDO:2100021 + Bartter syndrome + ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค + + + Bartter็—‡ๅ€™็พค + + ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค + + + NANDO:2100022 Nephro- and urolithiasis + ใ˜ใ‚“ใซใ‚‡ใ†ใ‹ใ‚“ใ‘ใฃใ›ใ ่…Žๅฐฟ็ฎก็ต็Ÿณ - + + + Nephro-urolithiasis ่…Žๅฐฟ็ฎก็ต็Ÿณ - - 2100023 + + NANDO:2100023 Chronic renal failure + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“ ๆ…ขๆ€ง่…Žไธๅ…จ - + + + ๆ…ขๆ€ง่…Žไธๅ…จ - - 2100024 + + NANDO:2100024 Renal malformation + ใ˜ใ‚“ใใ‘ใ„ ่…Žๅฅ‡ๅฝข - + ่…Žๅฅ‡ๅฝข - - 2100025 + + NANDO:2100025 Urinary tract malformation + ใซใ‚‡ใ†ใ‚ใใ‘ใ„ ๅฐฟ่ทฏๅฅ‡ๅฝข - + ๅฐฟ่ทฏๅฅ‡ๅฝข - - 2100026 + + NANDO:2100026 Atrophic kidney (excluding urinary tract malformation) + ใ„ใ—ใ‚…ใใ˜ใ‚“๏ผˆใซใ‚‡ใ†ใ‚ใใ‘ใ„ใŒใ’ใ‚“ใ„ใ‚“ใฎใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰ ่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ - + ่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ - - 2100027 + + NANDO:2100027 Fanconi syndrome - ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พค - - ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พค + ใตใใ‚“ใ“ใƒผใซใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค + + + Fanconi็—‡ๅ€™็พค + + ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค - - 2100028 + + NANDO:2100028 Lowe syndrome - ใƒญใ‚ฆ๏ผˆLowe๏ผ‰็—‡ๅ€™็พค - - ใƒญใ‚ฆ๏ผˆLowe๏ผ‰็—‡ๅ€™็พค + ใ‚ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒญใ‚ฆ็—‡ๅ€™็พค + + + + Lowe็—‡ๅ€™็พค + + ใƒญใ‚ฆ็—‡ๅ€™็พค - - 2100029 + + NANDO:2100029 Chronic respiratory disease + ใพใ‚“ใ›ใ„ใ“ใใ‚…ใ†ใใ—ใฃใ‹ใ‚“ ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ - + ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ - - 2100030 + + NANDO:2100030 Airway obstruction and stenosis + ใใฉใ†ใใ‚‡ใ†ใ•ใ ๆฐ—้“็‹ญ็ช„ - + + ๆฐ—้“็‹ญ็ช„ - - 2100031 + + NANDO:2100031 Bronchial asthma + ใใ‹ใ‚“ใ—ใœใ‚“ใใ ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ - + + + + ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ - - 2100032 + + NANDO:2100032 Congenital central hypoventilation syndrome + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - + + + + + CCHS + ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - 2100033 + + NANDO:2100033 Interstitial pneumonia + ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“ ้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ - + ้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ - - 2100034 - primary ciliary dyskinesia + + NANDO:2100034 + Primary ciliary dyskinesia + ใ›ใ‚“ใ‚‚ใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค - + + + + ็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค - - 2100035 + + NANDO:2100035 Cystic fibrosis + ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ๅšข่ƒžๆ€ง็ทš็ถญ็—‡ - - + + + + + CF + ๅšข่ƒžๆ€ง็ทš็ถญ็—‡ - - 2100036 + + NANDO:2100036 Bronchiectasis + ใใ‹ใ‚“ใ—ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ - - + + + + BE + ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ - - 2100037 + + NANDO:2100037 Idiopathic pulmonary hemosiderosis + ใจใใฏใคใ›ใ„ใฏใ„ใธใ‚‚ใ˜ใงใ‚ใƒผใ—ใ™ ็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น - + + + + Idiopathic pulmonary haemosiderosis + ็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น - - 2100038 + + NANDO:2100038 Chronic lung disease + ใพใ‚“ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“ ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ - + + ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ - - 2100039 + + NANDO:2100039 Bronchiolitis obliterans + ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“ ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž - - + + + + BO + ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž - - 2100040 + + NANDO:2100040 Congenital diaphragmatic hernia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚ ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข - - + + + + CDH + ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข - - 2100041 + + NANDO:2100041 Congenital cystic lung disease + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“ ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ - + + ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ - - 2100042 + + NANDO:2100042 Chronic heart disease + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ—ใฃใ‹ใ‚“ ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ - + ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ - - 2100043 + + NANDO:2100043 Sick sinus syndrome + ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆดžไธๅ…จ็—‡ๅ€™็พค - - + + + + SSS + ๆดžไธๅ…จ็—‡ๅ€™็พค - - 2100044 + + NANDO:2100044 Mobitz type II second degree atrioventricular block - ใƒขใƒ“ใƒƒใƒ„๏ผˆMobitz๏ผ‰2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ - - ใƒขใƒ“ใƒƒใƒ„๏ผˆMobitz๏ผ‰2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ + ใ‚‚ใณใฃใค๏ผ’ใŒใŸใถใ‚ใฃใ + ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ + + + + Mobitz2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ + + ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ - - 2100045 + + NANDO:2100045 Complete atrio-ventricular block - ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ - - ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ + ใ‹ใ‚“ใœใ‚“ใผใ†ใ—ใคใถใ‚ใฃใ + ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ + + + + ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ - - 2100046 + + NANDO:2100046 Bundle branch block + ใใ‚ƒใใถใ‚ใฃใ ่„šใƒ–ใƒญใƒƒใ‚ฏ - + + + + ่„šใƒ–ใƒญใƒƒใ‚ฏ - - 2100047 + + NANDO:2100047 Polymorphic ventricular premature beat + ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใ—ใคใใŒใ„ใ—ใ‚…ใ†ใ—ใ‚…ใ ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ - + + ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ - - 2100048 + + NANDO:2100048 Supraventricular tachycardia + ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ ไธŠๅฎค้ ปๆ‹ - + ไธŠๅฎค้ ปๆ‹ - - 2100049 + + NANDO:2100049 Ventricular tachycardia + ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ ๅฟƒๅฎค้ ปๆ‹ - + + ๅฟƒๅฎค้ ปๆ‹ - - 2100050 + + NANDO:2100050 Atrial flutter + ใ—ใ‚“ใผใ†ใใฉใ† ๅฟƒๆˆฟ็ฒ—ๅ‹• - + + + ๅฟƒๆˆฟ็ฒ—ๅ‹• - - 2100051 - Atrial Fibrillation + + NANDO:2100051 + Atrial fibrillation + ใ—ใ‚“ใผใ†ใ•ใ„ใฉใ† ๅฟƒๆˆฟ็ดฐๅ‹• - - + + + + AF + ๅฟƒๆˆฟ็ดฐๅ‹• - - 2100052 + + NANDO:2100052 Ventricular fibrillation + ใ—ใ‚“ใ—ใคใ•ใ„ใฉใ† ๅฟƒๅฎค็ดฐๅ‹• - + + + ๅฟƒๅฎค็ดฐๅ‹• - - 2100053 + + NANDO:2100053 Long QT syndrome QTๅปถ้•ท็—‡ๅ€™็พค - + ใใ‚…ใƒผใฆใƒใƒผใˆใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + + + QTๅปถ้•ท็—‡ๅ€™็พค - - 2100054 + + NANDO:2100054 Hypertrophic cardiomyopathy + ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - + + + + HCM + ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 2100055 + + NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia + ใตใ›ใ„ใฟใ‚ƒใใ’ใ‚“ใ›ใ„ใ†ใ—ใคใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡ - - + + + + ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡ - - 2100056 + + NANDO:2100056 Non-compaction of the ventricle + ใ—ใ‚“ใใ‚“ใกใฟใคใ‹ใ—ใ‚‡ใ†ใŒใ„ ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ - + + ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ - - 2100057 + + NANDO:2100057 Dilated cardiomyopathy + ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ - - + + + + DCM + ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ - - 2100058 - Restricted cardiomyopathy + + NANDO:2100058 + Restrictive cardiomyopathy + ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - + + + ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - - 2100059 + + NANDO:2100059 Aneurysm of ventricle + ใ—ใ‚“ใ—ใคใ‚Šใ‚…ใ† ๅฟƒๅฎค็˜ค - + + ๅฟƒๅฎค็˜ค - - 2100060 + + NANDO:2100060 Endocardial fibroelastosis + ใ—ใ‚“ใชใ„ใพใใ›ใ‚“ใ„ใ ใ‚“ใ›ใ„ใ—ใ‚‡ใ† ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡ - + + + + ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡ - - 2100061 + + NANDO:2100061 Cardiac tumor + ใ—ใ‚“ใžใ†ใ—ใ‚…ใ‚ˆใ† ๅฟƒ่‡“่…ซ็˜ - + + + ๅฟƒ่‡“่…ซ็˜ - - 2100062 + + NANDO:2100062 Chronic myocarditis + ใพใ‚“ใ›ใ„ใ—ใ‚“ใใ‚“ใˆใ‚“ ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž - + + ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž - - 2100063 + + NANDO:2100063 Chronic pericarditis + ใพใ‚“ใ›ใ„ใ—ใ‚“ใพใใˆใ‚“ ๆ…ขๆ€งๅฟƒ่†œ็‚Ž - + + ๆ…ขๆ€งๅฟƒ่†œ็‚Ž - - 2100064 + + NANDO:2100064 Constrictive pericarditis + ใ—ใ‚…ใ†ใ—ใ‚…ใใ›ใ„ใ—ใ‚“ใพใใˆใ‚“ ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž - + + + ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž - - 2100065 + + NANDO:2100065 Congenital defect of the pericardium + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚“ใพใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡ - + + ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡ - - 2100066 + + NANDO:2100066 Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants + ใซใ‚…ใ†ใ˜ใจใใฏใคใ›ใ„ใใ†ใผใ†ในใ‚“ใ‘ใ‚“ใ•ใใ ใ‚“ใ‚Œใค ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚ - + + ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚ - - 2100067 + + NANDO:2100067 Abnormal origin of coronary artery from pulmonary artery + ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ—ใ„ใ˜ใ‚‡ใ† ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ - + ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ - - 2100068 - Coronary aneurysms complicated with kawasaki disease + + NANDO:2100068 + Coronary aneurysms complicated with Kawasaki disease + ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค - + + + ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค - - 2100069 - Stenosis or atresia of coronary artery + + NANDO:2100069 + Stenosis or atresia of coronary artery (not caused by Kawasaki disease) + ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†๏ผˆใ‹ใ‚ใ•ใใณใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰ ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ - + + ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ - - 2100070 + + NANDO:2100070 Ischemic heart disease + ใใ‚‡ใ‘ใคใ›ใ„ใ—ใ‚“ใ—ใฃใ‹ใ‚“ ่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ - + + Ischaemic heart disease + ่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ - - 2100071 + + NANDO:2100071 Hypoplastic left heart syndrome + ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค - - + + + + HLHS + ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค - - 2100072 + + NANDO:2100072 Single ventricle + ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ† ๅ˜ๅฟƒๅฎค็—‡ - - + + + ๅ˜ๅฟƒๅฎค็—‡ - - 2100073 + + NANDO:2100073 Tricuspid atresia + ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ† ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ - - + + + + + ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ - - 2100074 + + NANDO:2100074 Pulmonary atresia + ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ - + + PA ่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ - - 2100075 + + NANDO:2100075 Tetralogy of Fallot - ใƒ•ใ‚กใƒญใƒผ๏ผˆFallot๏ผ‰ๅ››ๅพด็—‡ - - ใƒ•ใ‚กใƒญใƒผ๏ผˆFallot๏ผ‰ๅ››ๅพด็—‡ + ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ† + ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ + + + + Fallotๅ››ๅพด็—‡ + + ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ - - 2100076 - Double-outlet right ventricle + + NANDO:2100076 + Double outlet right ventricle + ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ† ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ - - + + + DORV + ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ - - 2100077 + + NANDO:2100077 Double-outlet left ventricle + ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ•ใ—ใคใใ—ใ—ใ‚‡ใ† ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡ - + + + ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡ - - 2100078 + + NANDO:2100078 Complete transposition of the great arteries + ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ† ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ - - + + + + complete TGA ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ - - 2100079 + + NANDO:2100079 Congenitally corrected transposition of the great arteries + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ - + + + ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ - - 2100080 - Ebsteinโ€™s anomaly - ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEbstein๏ผ‰็—… - - ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEbstein๏ผ‰็—… + + NANDO:2100080 + Ebstein's anomaly + ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ† + ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—… + + + + Ebstein็—… + + ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—… - - 2100081 + + NANDO:2100081 Truncus arteriosus communis + ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ† ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡ - - + + + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡ - - 2100082 + + NANDO:2100082 Aorto-pulmonary window - ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ - - ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ + ใ ใ„ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ† + ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ + + + + + ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ - - 2100083 + + NANDO:2100083 Cor triatriatum + ใ•ใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚“ ไธ‰ๅฟƒๆˆฟๅฟƒ - + + + ไธ‰ๅฟƒๆˆฟๅฟƒ - - 2100084 + + NANDO:2100084 Patent ductus arteriosus + ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ‹ใ„ใžใ‚“ใ—ใ‚‡ใ† ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ - - + + + + PDA + ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ - - 2100085 + + NANDO:2100085 Atrial septal defect + ใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ - + + + ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ - - 2100086 + + NANDO:2100086 Complete atrioventricular septal defect + ใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ - + + + ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ - - 2100087 + + NANDO:2100087 Ventricular septal defect + ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ - - + + + + VSD + ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ - - 2100088 + + NANDO:2100088 Total anomalous pulmonary venous connection - ่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ - - ่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ + ใใ†ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + ็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ + + + ็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ - - 2100089 + + NANDO:2100089 Pulmonary venous obstruction + ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ่‚บ้™่„ˆ็‹ญ็ช„็—‡ - + + ่‚บ้™่„ˆ็‹ญ็ช„็—‡ - - 2100090 + + NANDO:2100090 Left ventricular-right atrial communication + ใ•ใ—ใคใ†ใผใ†ใ“ใ†ใคใ†ใ—ใ‚‡ใ† ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡ - + + + ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡ - - 2100091 + + NANDO:2100091 Double-chambered right ventricle + ใ†ใ—ใคใซใใ†ใ—ใ‚‡ใ† ๅณๅฎคไบŒ่…”็—‡ - + + ๅณๅฎคไบŒ่…”็—‡ - - 2100092 + + NANDO:2100092 Subvalvular pulmonary stenosis + ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - + + + ่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - - 2100093 + + NANDO:2100093 Subvalvular aortic stenosis + ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - + + + ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - - 2100094 - Supravalvular pulmonary stenosis + + NANDO:2100094 + pulmonary arteriostenosis + ใฏใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡ - + ่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡ - - 2100095 + + NANDO:2100095 Absent pulmonary valve + ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‘ใฃใใ‚“ ่‚บๅ‹•่„ˆๅผๆฌ ๆ - + + + ่‚บๅ‹•่„ˆๅผๆฌ ๆ - - 2100096 + + NANDO:2100096 Origin of pulmonary artery from ascending aorta + ใฏใ„ใฉใ†ใฟใ‚ƒใใ˜ใ‚‡ใ†ใ“ใ†ใ ใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡ - + + ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡ - - 2100097 + + NANDO:2100097 Unilateral absence of a pulmonary artery + ใ„ใฃใใใฏใ„ใฉใ†ใฟใ‚ƒใใ‘ใฃใใ‚“ ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ - + + ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ - - 2100098 - Coarctation of the aorta + + NANDO:2100098 + Aortic stenosis + ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡ - + + ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡ - - 2100099 + + NANDO:2100099 Aortic arch occlusive disease + ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใธใ„ใใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡ - + + ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡ - - 2100100 + + NANDO:2100100 Vascular ring + ใ‘ใฃใ‹ใ‚“ใ‚Šใ‚“ ่ก€็ฎก่ผช - + ่ก€็ฎก่ผช - - 2100101 + + NANDO:2100101 Aortic aneurysm + ใ ใ„ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† ๅคงๅ‹•่„ˆ็˜ค - + + + ๅคงๅ‹•่„ˆ็˜ค - - 2100102 + + NANDO:2100102 Arteriovenous fistulae + ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ† ๅ‹•้™่„ˆ็˜ป - + ๅ‹•้™่„ˆ็˜ป - - 2100103 - Idiopathic pulmonary arterial hypertension + + NANDO:2100103 + Pulmonary arterial hypertension + ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - - + + + + IPAH + PAH + ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ + ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - - 2100104 + + NANDO:2100104 Chronic cor pulmonale + ใพใ‚“ใ›ใ„ใฏใ„ใ›ใ„ใ—ใ‚“ ๆ…ขๆ€ง่‚บๆ€งๅฟƒ - + + ๆ…ขๆ€ง่‚บๆ€งๅฟƒ - - 2100105 + + NANDO:2100105 Valvular heart disease + ใ—ใ‚“ใžใ†ในใ‚“ใพใใ—ใ‚‡ใ† ๅฟƒ่‡“ๅผ่†œ็—‡ - + + ๅฟƒ่‡“ๅผ่†œ็—‡ - - 2100106 + + NANDO:2100106 Supramitral ring + ใใ†ใผใ†ในใ‚“ในใ‚“ใ˜ใ‚‡ใ†ใ‚Šใ‚“ ๅƒงๅธฝๅผๅผไธŠ่ผช - + + ๅƒงๅธฝๅผๅผไธŠ่ผช - - 2100107 + + NANDO:2100107 Hheterotaxy syndrome + ใชใ„ใžใ†ใ•ใใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค - + ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค - - 2100108 + + NANDO:2100108 Post-Fontan syndrome - ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ๏ผˆFontan๏ผ‰่ก“ๅพŒ็—‡ๅ€™็พค - - ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ๏ผˆFontan๏ผ‰่ก“ๅพŒ็—‡ๅ€™็พค + ใตใ‰ใ‚“ใŸใ‚“ใ˜ใ‚…ใคใ”ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค + + + Fontan่ก“ๅพŒ็—‡ๅ€™็พค + ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค - - 2100109 + + NANDO:2100109 Endocrine disease + ใชใ„ใถใ‚“ใดใคใ—ใฃใ‹ใ‚“ ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ - + + ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ - - 2100110 + + NANDO:2100110 Hypopituitarism + ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + + + ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 2100111 + + NANDO:2100111 Pituitary gigantism + ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใใ‚‡ใ˜ใ‚“ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ - - + + + + ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ - - 2100112 + + NANDO:2100112 Acromegaly + ใ›ใ‚“ใŸใ‚“ใใ‚‡ใ ใ„ใ—ใ‚‡ใ† ๅ…ˆ็ซฏๅทจๅคง็—‡ - - + + + + ๅ…ˆ็ซฏๅทจๅคง็—‡ - - 2100113 + + NANDO:2100113 Growth hormone deficiency + ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ† ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - + + GHD ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - - 2100114 + + NANDO:2100114 Growth hormone insensitivity + ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค - + + + ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค - - 2100115 + + NANDO:2100115 Hyperprolactinemia + ใ“ใ†ใทใ‚ใ‚‰ใใกใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ - - + + + + Hyperprolactinaemia + ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ - - 2100116 + + NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone - ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณ๏ผˆADH๏ผ‰ไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค - - ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณ๏ผˆADH๏ผ‰ไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค + ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค + + + + ADHๅˆ†ๆณŒไบข้€ฒ็—‡ + SIADH + ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡ + + ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค - - 2100117 + + NANDO:2100117 Diabetes insipidus + ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† ๅฐฟๅดฉ็—‡ - + + ๅฐฟๅดฉ็—‡ - - 2100118 + + NANDO:2100118 Cerebral salt wasting syndrome + ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใˆใ‚“ใใ†ใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค - + + ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค - - 2100119 - hyperthyroidism + + NANDO:2100119 + Hyperthyroidism + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - - + + + ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - - 2100120 + + NANDO:2100120 Hypothyroidism + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + + ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 2100121 + + NANDO:2100121 Resistance to thyroid hormone + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ - + + + + + RTH + Syndrome of Resistance to Thyroid Hormone + + ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ - - 2100122 + + NANDO:2100122 Adenomatous goiter + ใ›ใ‚“ใ—ใ‚…ใ‚ˆใ†ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚… ่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ - + + + Adenomatous goitre ่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ - - 2100123 + + NANDO:2100123 Hyperparathyroidism + ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - - + + + + ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - - 2100124 + + NANDO:2100124 Hypoparathyroidism + ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - + + + + ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 2100125 + + NANDO:2100125 Autoimmune polyendocrinopathy + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค - + + ่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค - - 2100126 - Pseudopseudohypoparathyroidism + + NANDO:2100126 + Pseudohypoparathyroidism + ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - + + + ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 2100127 + + NANDO:2100127 Cushing (Cushing) syndrome - ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ๏ผˆCushing๏ผ‰็—‡ๅ€™็พค - - ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ๏ผˆCushing๏ผ‰็—‡ๅ€™็พค - - - 2100128 + ใใฃใ—ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค + + + Cushing็—‡ๅ€™็พค + ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค + + + NANDO:2100128 Chronic adrenal insufficiency + ใพใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 2100129 + + NANDO:2100129 Aldosteronism + ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - + + ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - - 2100130 + + NANDO:2100130 Apparent mineralocorticoid excess syndrome - ่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค๏ผˆAME็—‡ๅ€™็พค๏ผ‰ - - ่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค๏ผˆAME็—‡ๅ€™็พค๏ผ‰ + ใฟใ‹ใ‘ใฎใ“ใ†ใ—ใคใ“ใ‚‹ใกใ“ใ„ใฉใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค + + + + AME็—‡ๅ€™็พค + + + ่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค - - 2100131 + + NANDO:2100131 Liddle syndrome - ใƒชใƒ‰ใƒซ๏ผˆLiddle๏ผ‰็—‡ๅ€™็พค - - ใƒชใƒ‰ใƒซ๏ผˆLiddle๏ผ‰็—‡ๅ€™็พค + ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค + + + Liddle็—‡ๅ€™็พค + + ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค - - 2100132 + + NANDO:2100132 Hypoaldosteronism + ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ† ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - + + ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - - 2100133 + + NANDO:2100133 Pseudohypoaldosteronism + ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ† ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - + + + ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - - 2100134 + + NANDO:2100134 Congenital adrenal hyperplasia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ - + + CAH + ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ - - 2100135 + + NANDO:2100135 + Precocious puberty + ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ† ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ - - - - 2100136 + + + ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ + + + NANDO:2100136 + Hyperestrogenism (excluding precocious puberty) + ใˆใ™ใจใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†ใ‚’ใฎใžใใ€‚๏ผ‰ ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰ - + + + ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰ - - 2100137 + + NANDO:2100137 + Hyperandrogenism (excluding precocious puberty) + ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†ใ‚’ใฎใžใใ€‚๏ผ‰ ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰ - + + + ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰ - - 2100138 + + NANDO:2100138 Hypogonadotropic hypogonadism + ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - + + + ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 2100139 + + NANDO:2100139 Hypergonadotropic hypogonadism + ใ“ใ†ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + + ้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 2100140 + + NANDO:2100140 Disorders of sex development + ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“ ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ - + + ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ - - 2100141 + + NANDO:2100141 + Gastrointestinal Hormone Producing Tumors + ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ† ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜ - + + ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜ - - 2100142 + + NANDO:2100142 Glucagonoma + ใใ‚‹ใ‹ใ”ใฎใƒผใพ ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž - + + + ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž - - 2100143 - hyperinsulinaemic hypoglycaemia + + NANDO:2100143 + Hyperinsulinemic hypoglycemia + ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ›ใ„ใฆใ„ใ‘ใฃใจใ†ใ—ใ‚‡ใ† ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡ - + + + Hyperinsulinaemic hypoglycaemia + + ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡ - - 2100144 + + NANDO:2100144 Vitamin d-dependent rickets + ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—… - - + + + + ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—… - - 2100145 - Vitamin d resistant osteomalacia + + NANDO:2100145 + Vitamin D-resistant osteomalacia + ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ - + + ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ - - 2100146 - Primary hypophosphataemic rickets + + NANDO:2100146 + Primary hypophosphatemic rickets + ใ’ใ‚“ใฑใคใ›ใ„ใฆใ„ใ‚Šใ‚“ใ‘ใคใ—ใ‚‡ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ† ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—… - + + + + Primary hypophosphataemic rickets ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—… - - 2100147 + + NANDO:2100147 Lipodystrophy - ่„‚่‚ช็•ฐๆ „้คŠ็—‡๏ผˆ่„‚่‚ช่Ž็ธฎ็—‡๏ผ‰ - - ่„‚่‚ช็•ฐๆ „้คŠ็—‡๏ผˆ่„‚่‚ช่Ž็ธฎ็—‡๏ผ‰ + ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† + ่„‚่‚ช่Ž็ธฎ็—‡ + + + ่„‚่‚ช็•ฐๆ „้คŠ็—‡ + + ่„‚่‚ช่Ž็ธฎ็—‡ - - 2100148 + + NANDO:2100148 Multiple endocrine neoplasia + ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ† ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ - + + ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ - - 2100149 + + NANDO:2100149 Polycystic ovary syndrome + ใŸใฎใ†ใปใ†ใ›ใ„ใ‚‰ใ‚“ใใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค - - + + + + + ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค - - 2100150 + + NANDO:2100150 Other endocrine disease + ใชใ„ใถใ‚“ใดใคใ—ใฃใ‹ใ‚“ใ‚’ใจใ‚‚ใชใ†ใใฎใปใ‹ใฎใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค - + ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค - - 2100151 + + NANDO:2100151 Collagen disease + ใ“ใ†ใ’ใ‚“ใณใ‚‡ใ† ่† ๅŽŸ็—… - + + ่† ๅŽŸ็—… - - 2100152 - Collagen disease disease + + NANDO:2100152 + Collagen disease + ใ“ใ†ใ’ใ‚“ใณใ‚‡ใ†ใ—ใฃใ‹ใ‚“ ่† ๅŽŸ็—…็–พๆ‚ฃ - + + ่† ๅŽŸ็—…็–พๆ‚ฃ - - 2100153 + + NANDO:2100153 + vasculitic syndrome + ใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่ก€็ฎก็‚Ž็—‡ๅ€™็พค - + + ่ก€็ฎก็‚Ž็—‡ๅ€™็พค - - 2100154 - Relapsing polychondritis + + NANDO:2100154 + Relapsing Polychondritis + ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“ ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž - - + + + + ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž - - 2100155 + + NANDO:2100155 Skin and connective tissue disease + ใฒใตใƒปใ‘ใคใ”ใ†ใใ—ใใ—ใฃใ‹ใ‚“ ็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ - + + ็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ - - 2100156 - autoinflammatory disease + + NANDO:2100156 + Autoinflammatory disease + ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฃใ‹ใ‚“ ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ - + + ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ - - 2100157 + + NANDO:2100157 Diabetes + ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† ็ณ–ๅฐฟ็—… - + + ็ณ–ๅฐฟ็—… - - 2100158 + + NANDO:2100158 Diabetes + ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† ็ณ–ๅฐฟ็—… - + + ็ณ–ๅฐฟ็—… - - 2100159 + + NANDO:2100159 Inborn errors of metabolism + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ - + + ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ - - 2100160 + + NANDO:2100160 Disorder of amino acid metabolism + ใ‚ใฟใฎใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - + + ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100161 + + NANDO:2100161 Disorder of organic acid metabolism + ใ‚†ใ†ใใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - + + ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100162 + + NANDO:2100162 Disorder of fatty-acid metabolism + ใ—ใผใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - + + ่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100163 - Mitochondrial disease + + NANDO:2100163 + Mitochondrial diseases + ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ† ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… - - + + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ + + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… - - 2100164 + + NANDO:2100164 Disorder of carbohydrate metabolism + ใจใ†ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ - + + + ็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100165 - Lysosomal disease + + NANDO:2100165 + Lysosomal storage disease + ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ† ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—… - + + ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—… - - 2100166 - Peroxisomal disease + + NANDO:2100166 + Peroxisomal Disorder + ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ† ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—… - + + ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—… - - 2100167 + + NANDO:2100167 Disorder of metal metabolism + ใใ‚“ใžใใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ - + ้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100168 + + NANDO:2100168 Disorder of purine and pyrimidine metabolism + ใทใ‚Šใ‚“ใดใ‚Šใฟใ˜ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ - + ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100169 + + NANDO:2100169 Disorder of vitamin metabolism + ใณใŸใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ - + ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100170 + + NANDO:2100170 Disorder of neurotransmitter metabolism and transport + ใ—ใ‚“ใ‘ใ„ใงใ‚“ใŸใคใถใฃใ—ใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ - + ็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ - - 2100171 + + NANDO:2100171 Disorder of lipid metabolism + ใ—ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ - + ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ - - 2100172 + + NANDO:2100172 Connective tissue disorder + ใ‘ใคใ”ใ†ใใ—ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ - + + ็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ - - 2100173 - porphyria + + NANDO:2100173 + Porphyria + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - + + + ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 2100174 + + NANDO:2100174 Alpha-1-antitrypsin deficiency ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡ - + ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + + + ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡ - - 2100175 + + NANDO:2100175 Blood disease + ใ‘ใคใˆใใ—ใฃใ‹ใ‚“ ่ก€ๆถฒ็–พๆ‚ฃ - + + ่ก€ๆถฒ็–พๆ‚ฃ - - 2100176 + + NANDO:2100176 Megaloblastic anemia + ใใ‚‡ใ›ใใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ - + + + + Megaloblastic anaemia + ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ - - 2100177 - pure red cell aplasia + + NANDO:2100177 + Pure red cell aplasia + ใ›ใใŒใใ‚…ใ†ใ‚ใ† ่ตค่Šฝ็ƒ็™† - + + ่ตค่Šฝ็ƒ็™† - - 2100178 - Congenital red blood cell dysplasia anemia + + NANDO:2100178 + Congenital dyserythropoietic anemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ - - + + + + CDA + Congenital dyserythropoietic anaemia + ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ - - 2100179 + + NANDO:2100179 Sideroblastic anemia + ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ - + + + + Sideroblastic anaemia + ้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ - - 2100180 - Atransferrinemia + + NANDO:2100180 + Congenital atransferrinemia + ใ‚€ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† ็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡ - - + + + + + Congenital atransferrinaemia + ็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡ - - 2100181 + + NANDO:2100181 Autoimmune hemolytic anemia + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - + + + + AIHA + Autoimmune haemolytic anaemia + ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 2100182 - Paroxysmal nocturnal hemoglobinuria + + NANDO:2100182 + Paroxysmal nocturnal haemoglobinuria + ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - + + + + PNH + Paroxysmal nocturnal haemoglobinuria + ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - 2100183 + + NANDO:2100183 Hereditary hemolytic anemia + ใ„ใงใ‚“ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค ้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - + + Hereditary haemolytic anaemia + ้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 2100184 - haemolytic anaemia due to hypersplenism + + NANDO:2100184 + Hemolytic anemia due to hypersplenism + ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค๏ผˆใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - + + + Haemolytic anaemia due to hypersplenism ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 2100185 - microangiopathic haemolytic anaemia + + NANDO:2100185 + Microangiopathic hemolytic anemia + ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - + + + + MAHA + Microangiopathic haemolytic anaemia ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 2100186 + + NANDO:2100186 Polycythemia vera + ใ—ใ‚“ใ›ใ„ใŸใ‘ใคใ—ใ‚‡ใ† ็œŸๆ€งๅคš่ก€็—‡ - + + + + + PV + Polycythaemia vera + ็œŸๆ€งๅคš่ก€็—‡ - - 2100187 - Familial vera + + NANDO:2100187 + Familial polycythemia + ใ‹ใžใใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ - + + + + Familial polycythaemia + ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ - - 2100188 + + NANDO:2100188 Thrombocytopenic purpura + ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - + + ่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 2100189 + + NANDO:2100189 Thrombotic thrombocytopenic purpura + ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - + + + + TTP + ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 2100190 + + NANDO:2100190 Thrombocytopenia (limited to those caused by hypersplenism.) + ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - + ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 2100191 + + NANDO:2100191 + Congenital bone marrow failure syndrome + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค - + + ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค - - 2100192 - cyclic thrombocytopenia + + NANDO:2100192 + Cyclic thrombocytopenia + ใ—ใ‚…ใ†ใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ + + + + + ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 2100193 - Mayโ€Hegglin anomaly - ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธ็—‡ - - ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธ็—‡ + + NANDO:2100193 + May-Hegglin anomaly + ใ‚ใ„ใƒปใธใใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ + + + + + May-Hegglin็•ฐๅธธ็—‡ + + ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ - - 2100194 - essential thrombocythaemia + + NANDO:2100194 + Essential thrombocythemia + ใปใ‚“ใŸใ„ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡ - - + + + + ET + Essential thrombocythaemia + ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡ - - 2100195 - platelet dysfunction + + NANDO:2100195 + Platelet dysfunction + ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใใฎใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ - + ่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ - - 2100196 + + NANDO:2100196 Inherited bleeding disorder + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใคใˆใใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ„ใ˜ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ - + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ - - 2100197 - protein C deficiency + + NANDO:2100197 + Protein C deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใ—ใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡ - + + + ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡ - - 2100198 - protein S deficiency + + NANDO:2100198 + Protein S deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใˆใ™ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡ - + + + ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡ - - 2100199 - antithrombin deficiency + + NANDO:2100199 + Antithrombin deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใกใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡ - + + ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡ - - 2100200 + + NANDO:2100200 Myelofibrosis + ใ“ใคใšใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ้ชจ้ซ„็ทš็ถญ็—‡ - - + + + + MF + ้ชจ้ซ„็ทš็ถญ็—‡ - - 2100201 + + NANDO:2100201 Aplastic anemia + ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - + + + + Aplastic anaemia + ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - 2100202 + + NANDO:2100202 Immune system disease + ใ‚ใ‚“ใˆใใ—ใฃใ‹ใ‚“ ๅ…็–ซ็–พๆ‚ฃ - + + ๅ…็–ซ็–พๆ‚ฃ - - 2100203 + + NANDO:2100203 Combined immunodeficiency + ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† ่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ - + + + ่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ - - 2100204 - immunodeficiency + + NANDO:2100204 + Immunodeficiency + ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใจใใกใ‚‡ใ†ใฆใใชใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค - + + + ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค - - 2100205 - predominantly antibody deficiency + + NANDO:2100205 + Predominantly antibody deficiency + ใˆใใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใ—ใ‚…ใจใ™ใ‚‹ใ—ใฃใ‹ใ‚“ ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ - + ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ - - 2100206 - disease of immune dysregulation + + NANDO:2100206 + Disease of immune dysregulation + ใ‚ใ‚“ใˆใใกใ‚‡ใ†ใ›ใคใ—ใ‚‡ใ†ใŒใ„ ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ - + ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ - - 2100207 + + NANDO:2100207 + Primary phagocyte dysfunction and phagocyte deficiency + ใ’ใ‚“ใฑใคใ›ใ„ใ—ใ‚‡ใใ•ใ„ใผใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใŠใ‚ˆใณใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡ - + + ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡ - - 2100208 - defect in innate immunity + + NANDO:2100208 + Defect in innate immunity + ใ—ใœใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ† ่‡ช็„ถๅ…็–ซ็•ฐๅธธ - + ่‡ช็„ถๅ…็–ซ็•ฐๅธธ - - 2100209 - inherited deficiency of complement system + + NANDO:2100209 + Inherited deficiency of complement system + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ - + + + ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ - - 2100210 - hyper eosinophilic syndrome + + NANDO:2100210 + Hyper eosinophilic syndrome + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ† ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡ - + + + + HES ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡ - - 2100211 + + NANDO:2100211 Chronic active EB virus infection + ใพใ‚“ใ›ใ„ใ‹ใคใฉใ†ใ›ใ„ใ„ใƒผใณใƒผใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - + + ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - - 2100212 + + NANDO:2100212 Acquired immune deficiency syndrome + ใ“ใ†ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ - + + AIDS + Aquired immunodeficiency + ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ - - 2100213 - chronic graft-versus-host disease + + NANDO:2100213 + Chronic graft-versus-host disease + ใพใ‚“ใ›ใ„ใ„ใ—ใ‚‡ใใธใ‚“ใŸใ„ใ—ใ‚…ใใ—ใ‚…ใณใ‚‡ใ† ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—… - + + + ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—… - - 2100214 + + NANDO:2100214 Neuromuscular disease + ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใ—ใฃใ‹ใ‚“ ็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ - + + + ็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ - - 2100215 - myelomeningocele + + NANDO:2100215 + Myelomeningocele + ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ† ่„Š้ซ„้ซ„่†œ็˜ค - + + + + ่„Š้ซ„้ซ„่†œ็˜ค - - 2100216 + + NANDO:2100216 Sacrococcygeal teratoma + ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚… ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ - + + + + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ - - 2100217 + + NANDO:2100217 + Brain malformation + ใฎใ†ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใŒใ„ ่„ณๅฝขๆˆ้šœๅฎณ - + + + ่„ณๅฝขๆˆ้šœๅฎณ - - 2100218 + + NANDO:2100218 Joubert syndrome related disorders - ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ - - ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ + ใ˜ใ‚…ในใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ + ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ + + + Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ + + ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ - - 2100219 + + NANDO:2100219 Rett syndrome - ใƒฌใƒƒใƒˆ๏ผˆRett๏ผ‰็—‡ๅ€™็พค - - ใƒฌใƒƒใƒˆ๏ผˆRett๏ผ‰็—‡ๅ€™็พค + ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค + + + + Rett็—‡ๅ€™็พค + + ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค - - 2100220 + + NANDO:2100220 + Neurocutaneous syndrome + ใ—ใ‚“ใ‘ใ„ใฒใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค - - - - 2100221 + + + ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค + + + NANDO:2100221 + Progeroid syndromes + ใใ†ใ‚ใ†ใ—ใ‚‡ใ† ๆ—ฉ่€็—‡ - + + + ๆ—ฉ่€็—‡ - - 2100222 + + NANDO:2100222 Leukoencephalopathy caused by genetic abnormalities + ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใซใ‚ˆใ‚‹ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡ - + ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡ - - 2100223 + + NANDO:2100223 ATR-X syndrome ATR-X็—‡ๅ€™็พค - + ใˆใƒผใฆใƒใƒผใƒผใ‚‹ใˆใฃใใ™ใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + + + ATR-X็—‡ๅ€™็พค - - 2100224 + + NANDO:2100224 Fragile X syndrome + ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่„†ๅผฑ๏ผธ็—‡ๅ€™็พค - - + + + + + ่„†ๅผฑ๏ผธ็—‡ๅ€™็พค - - 2100225 - Inherited GPI deficiency - ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡ - - ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡ + + NANDO:2100225 + Inherited glycosylphosphatidylinositol deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡ + + + + IGD + ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ + ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡ - - 2100226 - Cerebral creatine deficiency syndrome + + NANDO:2100226 + Cerebral creatine deficiency syndromes + ใฎใ†ใใ‚Œใ‚ใกใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค - - + + + CCDSs + ่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค - - 2100227 - craniosynostosis + + NANDO:2100227 + Craniosynostosis + ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ† ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ - + + ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ - - 2100228 - Moyamoya Disease + + NANDO:2100228 + Moyamoya disease + ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ† ใ‚‚ใ‚„ใ‚‚ใ‚„็—… - - + + + + ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡ + ใ‚‚ใ‚„ใ‚‚ใ‚„็—… - - 2100229 + + NANDO:2100229 Cerebral arteriovenous malformation + ใฎใ†ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„ ่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข - + + + + ่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข - - 2100230 + + NANDO:2100230 Cavernous angioma of the brain and spinal cord + ใ‹ใ„ใ‚ใ‚“ใ˜ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚…๏ผˆใฎใ†ใ›ใใšใ„๏ผ‰ ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰ - + + ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰ - - 2100231 - spinal muscular atrophy + + NANDO:2100231 + Spinal muscular atrophy + ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ - - + + + + SMA + + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ - - 2100232 + + NANDO:2100232 + Congenital neuropathy + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - + + ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - 2100233 + + NANDO:2100233 Muscular dystrophy + ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + + ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 2100234 - congenital structural myopathy + + NANDO:2100234 + Congenital myopathy + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - + + ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - 2100235 + + NANDO:2100235 Schwartz-Jampel syndrome - ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พค - - ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พค + ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค + + + + + Schwartz-Jampel็—‡ๅ€™็พค + + ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค - - 2100236 + + NANDO:2100236 + Refractory epileptic encephalopathy + ใชใ‚“ใ˜ใฆใ‚“ใ‹ใ‚“ใฎใ†ใ—ใ‚‡ใ† ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡ - + + ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡ - - 2100237 + + NANDO:2100237 + Progressive myoclonus epilepsy + ใ—ใ‚“ใ“ใ†ใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ ้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ - - + + PME + + ้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ - - 2100238 + + NANDO:2100238 Spinocerebellar degeneration + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - + + + + SCD + ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - 2100239 - alternating hemiplegia of childhood + + NANDO:2100239 + Alternating hemiplegia of childhood + ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ - - + + + + AHC + ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ - - 2100240 + + NANDO:2100240 dystonia musculorum deformans + ใธใ‚“ใ‘ใ„ใ›ใ„ใใ‚“ใ˜ใ™ใจใซใƒผ ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ - + + + + ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ - - 2100241 + + NANDO:2100241 + Neurodegeneration with brain iron accumulation + ใฎใ†ใฎใฆใคใกใ‚“ใกใ‚ƒใใ‚’ใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใฃใ‹ใ‚“ ่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ - + + NBIA + + ่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ - - 2100242 + + NANDO:2100242 infantile bilateral striatal necrosis + ใซใ‚…ใ†ใ˜ใ‚Šใ‚‡ใ†ใใใ›ใ‚“ใ˜ใ‚‡ใ†ใŸใ„ใˆใ— ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป - + + + + ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป - - 2100243 + + NANDO:2100243 + congenital infections + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡ - - - - 2100244 - Aicardi-Goutieres syndrome - ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ๏ผˆAicardi-Goutieres๏ผ‰็—‡ๅ€™็พค - - ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ๏ผˆAicardi-Goutieres๏ผ‰็—‡ๅ€™็พค - - - 2100245 - subacute sclerosing panencephalitis + + ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡ + + + NANDO:2100244 + Aicardi-Goutiรจres Syndrome + ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค + + + Aicardi-Goutieres็—‡ๅ€™็พค + + ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค + + + NANDO:2100245 + Subacute sclerosing panencephalitis + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“ ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž - - + + + + + SSPE + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž - - 2100246 - Rasmussen encephalitis - ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผˆRasmussen๏ผ‰่„ณ็‚Ž - - ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผˆRasmussen๏ผ‰่„ณ็‚Ž + + NANDO:2100246 + Rasmussen's Encephalitis + ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“ + ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž + + + Rasmussen Encephalitis + Rasmussen่„ณ็‚Ž + + ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž - - 2100247 + + NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion + ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ† ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡ - + + + ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡ - - 2100248 + + NANDO:2100248 Autoimmune encephalitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ‹ใ„ใ–ใ„ใ›ใ„ใฎใ†ใˆใ‚“ใƒปใฎใ†ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ - + + + ่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ - - 2100249 + + NANDO:2100249 acute encephalitis with refractory, repetitive partial seizures + ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“ ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž - - + + + + AERRPS + ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž - - 2100250 - multiple sclerosis + + NANDO:2100250 + Multiple sclerosis + ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† ๅคš็™บๆ€ง็กฌๅŒ–็—‡ - - + + + + MS + ๅคš็™บๆ€ง็กฌๅŒ–็—‡ - - 2100251 + + NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy + ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“ ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž - - + + + + + CIDP + + + ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž - - 2100252 + + NANDO:2100252 myasthenia gravis + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† ้‡็—‡็ญ‹็„กๅŠ›็—‡ - - + + + + + MG + ้‡็—‡็ญ‹็„กๅŠ›็—‡ - - 2100253 + + NANDO:2100253 Chronic digestive disease + ใพใ‚“ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใใ—ใฃใ‹ใ‚“ ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ - + ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ - - 2100254 + + NANDO:2100254 + congenital malabsorption + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅธๅŽไธๅ…จ็—‡ - + + ๅ…ˆๅคฉๆ€งๅธๅŽไธๅ…จ็—‡ - - 2100255 + + NANDO:2100255 microvillus inclusion disease + ใณใ˜ใ‚…ใ†ใ‚‚ใ†ใตใ†ใซใ‚…ใ†ใŸใ„ใณใ‚‡ใ† ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—… - + + + + ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—… - - 2100256 + + NANDO:2100256 Intestinal Lymphangiectasia + ใกใ‚‡ใ†ใ‚Šใ‚“ใฑใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† ่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡ - + + + ่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡ - - 2100257 + + NANDO:2100257 Polyposis + ใฝใ‚Šใฝใƒผใ—ใ™ ใƒใƒชใƒใƒผใ‚ทใ‚น - + + ใƒใƒชใƒใƒผใ‚ทใ‚น - - 2100258 + + NANDO:2100258 Cyclic Vomiting Syndrome + ใ—ใ‚…ใ†ใใ›ใ„ใŠใ†ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค - + + + + ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค - - 2100259 + + NANDO:2100259 Inflammatory bowel disease + ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใกใ‚‡ใ†ใ—ใฃใ‹ใ‚“ ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ - + + ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ - - 2100260 + + NANDO:2100260 Autoimmune enteropathy (including IPEX syndrome.) + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ‚ใ„ใบใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‚’ใตใใ‚€ใ€‚๏ผ‰ ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰ - + ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰ - - 2100261 - Non-specific multiple of the small intestine ulcer disease + + NANDO:2100261 + Chronic nonspecific multiple ulcers of the small intestine + ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ† ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ - - + + + + CEAS + Chronic enteropathy associated with SLCO2A1 + ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ - - 2100262 - Acute Liver Failure + + NANDO:2100262 + acute liver failure with hepatic coma + ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใตใœใ‚“๏ผˆใ“ใ‚“ใ™ใ„ใŒใŸ๏ผ‰ ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰ - + + ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰ - - 2100263 - Neonatal Hemochromatosis + + NANDO:2100263 + Neonatal hemochromatosis + ใ—ใ‚“ใ›ใ„ใ˜ใธใ‚‚ใใ‚ใพใจใƒผใ—ใ™ ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น - + + + + Neonatal haemochromatosis + ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น - - 2100264 + + NANDO:2100264 Autoimmune hepatitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“ ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž - - + + + + AIH + ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž - - 2100265 + + NANDO:2100265 Primary sclerosing cholangitis + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“ ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž - - + + + + + PSC + + ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž - - 2100266 + + NANDO:2100266 + intrahepatic cholestatic disorders + ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ›ใ„ใ—ใฃใ‹ใ‚“ ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ - + + ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ - - 2100267 + + NANDO:2100267 Congenital hepatic fibrosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ - + + + ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ - - 2100268 + + NANDO:2100268 Liver Cirrhosis + ใ‹ใ‚“ใ“ใ†ใธใ‚“ใ—ใ‚‡ใ† ่‚็กฌๅค‰็—‡ - + + + ่‚็กฌๅค‰็—‡ - - 2100269 - portal hypertension + + NANDO:2100269 + Portal hypertension + ใ‚‚ใ‚“ใฟใ‚ƒใใ‚ใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ้–€่„ˆๅœงไบข้€ฒ็—‡ - + + + ้–€่„ˆๅœงไบข้€ฒ็—‡ - - 2100270 + + NANDO:2100270 Congenital Absence of Portal Vein + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ - + + ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ - - 2100271 + + NANDO:2100271 Congenital Hepatoportal Arteriovenous Fistula + ใ‚‚ใ‚“ใฟใ‚ƒใใƒปใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚ใ† ้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป - + + ้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป - - 2100272 + + NANDO:2100272 Crigler-Najjar syndrome - ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค - - ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค + ใใ‚Šใใ‚‰ใƒผใƒปใชใ˜ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค + + + Crigler-Najjar็—‡ๅ€™็พค + + ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค - - 2100273 + + NANDO:2100273 Intractable pancreatitis + ใชใ‚“ใ˜ใ›ใ„ใ™ใ„ใˆใ‚“ ้›ฃๆฒปๆ€ง่†ต็‚Ž - + ้›ฃๆฒปๆ€ง่†ต็‚Ž - - 2100274 + + NANDO:2100274 Short Bowel Syndrome + ใŸใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ† ็Ÿญ่…ธ็—‡ - + + + + ็Ÿญ่…ธ็—‡ - - 2100275 + + NANDO:2100275 Hirschsprung disease and related disease - ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ - - ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ - - - 2100276 - giant hepatic haemangiomas + ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†ใŠใ‚ˆใณใ‚‹ใ„ใˆใ‚“ใ—ใฃใ‹ใ‚“ + ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ + + Hirschsprung็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ + ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ + + + NANDO:2100276 + Giant hepatic hemangiomas + ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚… ่‚ๅทจๅคง่ก€็ฎก่…ซ - + + + + Critical infantile hepatic haemangioma + Giant hepatic haemangiomas + ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ ่‚ๅทจๅคง่ก€็ฎก่…ซ - - 2100277 - persistent cloaca + + NANDO:2100277 + Persistent cloaca + ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“ ็ทๆŽ’ๆณ„่…”้บๆฎ‹ - - + + + ็ทๆŽ’ๆณ„่…”้บๆฎ‹ - - 2100278 + + NANDO:2100278 Cloacal extrophy + ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ† ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ - - + + + ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ - - 2100279 + + NANDO:2100279 Chromosome abnormality - ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค - - ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค + ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค + + + + ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค - - 2100280 + + NANDO:2100280 Chromosome abnormality - ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค - - ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค + ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค + + + + ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค - - 2100281 + + NANDO:2100281 Skin disease + ใฒใตใ—ใฃใ‹ใ‚“ใใ‚“ ็šฎ่†š็–พๆ‚ฃ็พค - + + ็šฎ่†š็–พๆ‚ฃ็พค - - 2100282 - oculocutaneous albinism(congenital albinism) + + NANDO:2100282 + oculocutaneous albinism (congenital albinism) + ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†๏ผˆใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใฒใ—ใ‚‡ใ†๏ผ‰ ็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰ - + ็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰ - - 2100283 - Congenital ichthyosis + + NANDO:2100283 + congenital ichthyosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ - - + + ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ - - 2100284 - epidermolysis bullosa + + NANDO:2100284 + Epidermolysis bullosa + ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† ่กจ็šฎๆฐด็–ฑ็—‡ - - + + + + ่กจ็šฎๆฐด็–ฑ็—‡ - - 2100285 - pustular psoriasis + + NANDO:2100285 + Pustular psoriasis + ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰ ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ - + + + + GPP + Generalized pustular psoriasis + ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ - - 2100286 + + NANDO:2100286 Xeroderma pigmentosum + ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ† ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ - - + + + + XP + ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ - - 2100287 + + NANDO:2100287 von Recklinghausen's disease - ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ๏ผˆRecklinghausen๏ผ‰็—…๏ผˆ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹๏ผ‰ - - ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ๏ผˆRecklinghausen๏ผ‰็—…๏ผˆ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹๏ผ‰ + ใ‚Œใฃใใ‚Šใ‚“ใใฏใ†ใœใ‚“ใณใ‚‡ใ† + ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… + + + + Recklinghausen็—… + ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹ + + ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… - - 2100288 - pachydermoperiostosis + + NANDO:2100288 + Pachydermoperiostosis + ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ† ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡ - + + + + ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡ - - 2100289 + + NANDO:2100289 ectodermal dysplsia + ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ - + ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ - - 2100290 + + NANDO:2100290 Stevens-Johnson syndrome + ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค - + + + ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค - - 2100291 + + NANDO:2100291 Bone disease + ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“ ้ชจ็ณป็ตฑ็–พๆ‚ฃ - + + + ้ชจ็ณป็ตฑ็–พๆ‚ฃ - - 2100292 + + NANDO:2100292 Thoracic insufficiency syndrome + ใใ‚‡ใ†ใ‹ใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค - + + ่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค - - 2100293 + + NANDO:2100293 Bone disease + ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“ ้ชจ็ณป็ตฑ็–พๆ‚ฃ - + + + ้ชจ็ณป็ตฑ็–พๆ‚ฃ - - 2100294 + + NANDO:2100294 Vascular disease + ใฟใ‚ƒใฃใ‹ใ‚“ใ‘ใ„/ใฟใ‚ƒใใ‹ใ‚“ใ‘ใ„ใ—ใฃใ‹ใ‚“ ่„ˆ็ฎก็ณป็–พๆ‚ฃ - + + ่„ˆ็ฎก็ณป็–พๆ‚ฃ - - 2100295 + + NANDO:2100295 + vascular malformation + ใฟใ‚ƒใฃใ‹ใ‚“ใ‘ใ„/ใฟใ‚ƒใใ‹ใ‚“ใ‘ใ„ใใ‘ใ„ ่„ˆ็ฎกๅฅ‡ๅฝข - + + + ่„ˆ็ฎกๅฅ‡ๅฝข - - 2100296 + + NANDO:2100296 Hereditary hemorrhagic telangiectasia + ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใพใฃใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡ - + + + + HHT + Hereditary haemorrhagic telangiectasia + Osler-Weber-Rendu disease + ใ‚ชใ‚นใƒฉใƒผ็—… + ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡ - - 2100297 + + NANDO:2100297 Kasabach-Merritt syndrome - ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ๏ผˆKasabach-Merritt๏ผ‰็—‡ๅ€™็พค - - ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ๏ผˆKasabach-Merritt๏ผ‰็—‡ๅ€™็พค - - - 80 - ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚ - 2200001 - - B-cell precursor lymphoblastic leukaemia + ใ‹ใ•ใฐใฃใฏใƒปใ‚ใ‚Šใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค + + + + + Kasabach-Merritt็—‡ๅ€™็พค + + ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค + + + 80 + ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚ + NANDO:2200001 + + B-cell precursor lymphoblastic leukemia + ใœใ‚“ใใณใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—… - + + B-cell precursor lymphoblastic leukaemia + ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—… - - 77 - ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚ - 2200002 - - Mature B-cell lymphoblastic leukaemia + + 77 + ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚ + NANDO:2200002 + + Mature B-cell lymphoblastic leukemia + ใ›ใ„ใ˜ใ‚…ใใณใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—… - + + Mature B-cell lymphoblastic leukaemia + ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—… - - 81 - ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚ - 2200003 - - T-cell lymphoblastic leukaemia + + 81 + ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚ + NANDO:2200003 + + T-cell lymphoblastic leukemia T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—… + ใฆใƒใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† - + + T-cell lymphoblastic leukaemia + T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—… - - 71 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200004 - - Acute myeloid leukaemia with minimal differentiation + + 71 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200004 + + Acute myeloid leukemia with minimal differentiation + ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†ใ€ใ•ใ„ใฟใถใ‚“ใ‹ ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ– - + + Acute myeloid leukaemia with minimal differentiation + ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ– - - 79 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200005 - - Acute myeloid leukaemia without maturation + + 79 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200005 + + Acute myeloid leukemia without maturation + ใ›ใ„ใ˜ใ‚…ใใ‚’ใจใ‚‚ใชใ‚ใชใ„ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—… - + + Acute myeloid leukaemia without maturation + ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—… - - 78 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200006 - - Acute myeloid leukaemia with maturation + + 78 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200006 + + Acute myeloid leukemia with maturation + ใ›ใ„ใ˜ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—… - + + Acute myeloid leukaemia with maturation + ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—… - - 74 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200007 - - Acute promyelocytic leukaemia + + 74 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200007 + + Acute promyelocytic leukemia + ใใ‚…ใ†ใ›ใ„ใœใ‚“ใ“ใคใšใ„ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—… - + + Acute promyelocytic leukaemia + ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—… - - 72 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200008 - - Acute monocytic leukaemia + + 72 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200008 + + Acute monocytic leukemia + ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… - + + Acute monocytic leukaemia + + ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… - - 75 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200009 - - Acute megakaryoblastic leukaemia + + 75 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200009 + + Acute monocytic leukemia + ใใ‚…ใ†ใ›ใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—… - - + + Acute monocytic leukaemia + + ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—… - - 73 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200010 - + + 73 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200010 + Acute erythremia + ใใ‚…ใ†ใ›ใ„ใ›ใใฏใฃใ‘ใคใณใ‚‡ใ† ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—… - + + Acute erythraemia + ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—… - - 70 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ - 2200011 - - Acute megakaryoblastic leukaemia + + 70 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚ + NANDO:2200011 + + Acute megakaryoblastic leukemia + ใใ‚…ใ†ใ›ใ„ใใ‚‡ใ‹ใใŒใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—… - + + Acute megakaryoblastic leukaemia ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—… - - 82 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200012 - - NK cell leukaemia + + 82 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200012 + + NK cell leukemia NK็ดฐ่ƒž็™ฝ่ก€็—… + ใˆใฌใ‘ใƒผใ•ใ„ใผใ†ใฏใฃใ‘ใคใณใ‚‡ใ† - + + NK cell leukaemia ใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ็ดฐ่ƒž็™ฝ่ก€็—… + NK็ดฐ่ƒž็™ฝ่ก€็—… - - 83 - ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆCML๏ผ‰ใฏๆ…ขๆ€งๆœŸใ‹ใ‚‰็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใธ้€ฒ่กŒใ™ใ‚‹้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ ่ก€ๅนน็ดฐ่ƒžใซPhๆŸ“่‰ฒไฝ“ใ€ใ™ใชใ‚ใกBCR-ABLใ‚ญใƒกใƒฉ้บไผๅญใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใจใ€ABLใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผใฎๆ’ๅธธ็š„ใชๆดปๆ€งๅŒ–ใ‹ใ‚‰็ดฐ่ƒžๅข—ๆฎ–ใฎไบข้€ฒใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใฎ้˜ปๅฎณใ€้ชจ้ซ„ใ‚นใƒˆใƒญใƒผใƒžใธใฎๆŽฅ็€็•ฐๅธธใ€ใ‚ฒใƒŽใƒ ใฎไธๅฎ‰ๅฎšๆ€งใŒ็”Ÿใ˜ใ€ๆ…ขๆ€งๆœŸใซใฏ้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ใ€ๅข—ๆฎ–ใŒๅผทใ่ช˜ๅฐŽใ•ใ‚Œใ‚‹ใ€‚็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใซใฏๆœชๅˆ†ๅŒ–ใช่Šฝ็ƒใฎๅข—ๆฎ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200013 - - Chronic myeloid leukaemia + + 83 + ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆCML๏ผ‰ใฏๆ…ขๆ€งๆœŸใ‹ใ‚‰็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใธ้€ฒ่กŒใ™ใ‚‹้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ ่ก€ๅนน็ดฐ่ƒžใซPhๆŸ“่‰ฒไฝ“ใ€ใ™ใชใ‚ใกBCR-ABLใ‚ญใƒกใƒฉ้บไผๅญใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใจใ€ABLใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผใฎๆ’ๅธธ็š„ใชๆดปๆ€งๅŒ–ใ‹ใ‚‰็ดฐ่ƒžๅข—ๆฎ–ใฎไบข้€ฒใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใฎ้˜ปๅฎณใ€้ชจ้ซ„ใ‚นใƒˆใƒญใƒผใƒžใธใฎๆŽฅ็€็•ฐๅธธใ€ใ‚ฒใƒŽใƒ ใฎไธๅฎ‰ๅฎšๆ€งใŒ็”Ÿใ˜ใ€ๆ…ขๆ€งๆœŸใซใฏ้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ใ€ๅข—ๆฎ–ใŒๅผทใ่ช˜ๅฐŽใ•ใ‚Œใ‚‹ใ€‚็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใซใฏๆœชๅˆ†ๅŒ–ใช่Šฝ็ƒใฎๅข—ๆฎ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200013 + + Chronic myeloid leukemia + ใพใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—… - + CML - + Chronic myeloid leukaemia ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—… - - 84 - ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (CMML)ใฏๅ˜็ƒๅข—ๅŠ ใ‚’็‰นๅพดใจใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง่…ซ็˜(MPN)ใจ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค (MDS)ใฎๆ€ง่ณชใ‚’ไฝตใ›ๆŒใคใ‚ฏใƒญใƒผใƒณๆ€ง้ชจ้ซ„่…ซ็˜ใงใ‚ใ‚‹1)ใ€‚ๅฐๅ…ใซใŠใ„ใฆใฏๅŒๆง˜ใฎ็—…ๆ…‹ใจใ—ใฆRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚’ๆœ‰ใ—ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใŒใ‚ใ‚‹ใŒใ€ๅŽณๅฏ†ใช้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ - 2200014 - - Chronic myelomonocytic leukaemia + + 84 + ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (CMML)ใฏๅ˜็ƒๅข—ๅŠ ใ‚’็‰นๅพดใจใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง่…ซ็˜(MPN)ใจ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค (MDS)ใฎๆ€ง่ณชใ‚’ไฝตใ›ๆŒใคใ‚ฏใƒญใƒผใƒณๆ€ง้ชจ้ซ„่…ซ็˜ใงใ‚ใ‚‹1)ใ€‚ๅฐๅ…ใซใŠใ„ใฆใฏๅŒๆง˜ใฎ็—…ๆ…‹ใจใ—ใฆRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚’ๆœ‰ใ—ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใŒใ‚ใ‚‹ใŒใ€ๅŽณๅฏ†ใช้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200014 + + Chronic myelomonocytic leukemia + ใพใ‚“ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… - + + Chronic myelomonocytic leukaemia + + ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… - - 76 - ่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใฏๅคš่ƒฝๆ€ง้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Šๅ˜็ƒใจ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใŒ็•ฐๅธธๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ€ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹ใ€‚้ก†็ฒ’็ƒๅ˜็ƒใ‚ณใƒญใƒ‹ใƒผๅˆบๆฟ€ๅ› ๅญ (granulocyte-macrophage colony stimulating factor: GM-CSF)ๅ—ๅฎนไฝ“ฮฒ้Ž–ไธ‹ๆตใฎRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใŒ็ด„90%ใฎ็—‡ไพ‹ใงๆคœๅ‡บใ•ใ‚Œใ€JMMLใฎ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใฏGM-CSFใซๅฏพใ™ใ‚‹้ซ˜ๆ„Ÿๅ—ๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใ‚ฏใƒญใƒผใƒณใซ็”ฑๆฅใ™ใ‚‹็ดฐ่ƒžใŒๆœซๆขข่ก€ใ‚„้ชจ้ซ„ใฎใฟใชใ‚‰ใšๅ…จ่บซใฎ่‡“ๅ™จใงๅข—ๆฎ–ใ—ใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ใใŸใ™ใ€‚ - 2200015 - - Juvenile myelomonocytic leukaemia + + 76 + ่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใฏๅคš่ƒฝๆ€ง้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Šๅ˜็ƒใจ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใŒ็•ฐๅธธๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ€ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹ใ€‚้ก†็ฒ’็ƒๅ˜็ƒใ‚ณใƒญใƒ‹ใƒผๅˆบๆฟ€ๅ› ๅญ (granulocyte-macrophage colony stimulating factor: GM-CSF)ๅ—ๅฎนไฝ“ฮฒ้Ž–ไธ‹ๆตใฎRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใŒ็ด„90%ใฎ็—‡ไพ‹ใงๆคœๅ‡บใ•ใ‚Œใ€JMMLใฎ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใฏGM-CSFใซๅฏพใ™ใ‚‹้ซ˜ๆ„Ÿๅ—ๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใ‚ฏใƒญใƒผใƒณใซ็”ฑๆฅใ™ใ‚‹็ดฐ่ƒžใŒๆœซๆขข่ก€ใ‚„้ชจ้ซ„ใฎใฟใชใ‚‰ใšๅ…จ่บซใฎ่‡“ๅ™จใงๅข—ๆฎ–ใ—ใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ใใŸใ™ใ€‚ + NANDO:2200015 + + Juvenile myelomonocytic leukemia + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… - + + Juvenile myelomonocytic leukaemia + ่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… - - 85 - ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200016 - + + 85 + ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200016 + + 1ใ‹ใ‚‰15ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฏใฃใ‘ใคใณใ‚‡ใ† 1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—… - Other leukaemia + Other leukemia - + + Other leukaemia 1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—… - - 85 - 2200017 - + + 85 + NANDO:2200017 + Acute undifferentiated leukemia + ใใ‚…ใ†ใ›ใ„ใฟใถใ‚“ใ‹ใŒใŸใฏใฃใ‘ใคใณใ‚‡ใ† ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—… - + AUL Acute leukemia of ambiguous lineage - Acute unclassified leukemia + Acute unclassified leukaemia + Acute undifferentiated leukaemia ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—… - - 85 - 2200018 - + + 85 + NANDO:2200018 + Mixed phenotype acute leukemia + ใ“ใ‚“ใ”ใ†ใŒใŸใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ† ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—… - + MPAL + Mixed phenotype acute leukaemia ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—… - - 44 - ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Š็„กๅŠน้€ ่ก€ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…(AML)ใซ้€ฒ่กŒใ™ใ‚‹ใƒชใ‚นใ‚ฏใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆœซๆขข่ก€ใŠใ‚ˆใณ้ชจ้ซ„ใซใŠใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใซใ‚ˆใฃใฆ็—…ๅƒใŒ็•ฐใชใ‚Šใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„MDSใฏ็„กๅŠน้€ ่ก€ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใŒไธปไฝ“ใจใชใฃใฆๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ (AA)ใจใฎ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹ใฎใซๅฏพใ—ใฆใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ†MDSใฏAMLใซ่ฟ‘ใ„็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ๅฐๅ…ใฎMDSใฏใพใ‚Œใงใ€ๆˆไบบใฎใ‚‚ใฎใจใฏ็•ฐใชใ‚‹็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจ 5q-็—‡ๅ€™็พคใฏๅฐๅ…ใงใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ไธ€ๆ–นใงFanconi่ฒง่ก€ใชใฉใฎ้บไผๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค (inherited bone marrow failure syndrome: IBMFS)ใ‚„Down็—‡ๅ€™็พคใ€€(Down syndrome; DS)ใชใฉๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ ใพใŸใ€ๆ‚ชๆ€ง่…ซ็˜ใซๅฏพใ™ใ‚‹ๅŒ–ๅญฆ็™‚ๆณ•ใƒปๆ”พๅฐ„็ทšๆฒป็™‚ใ€AAใซๅฏพใ™ใ‚‹ๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใชใฉใซ็ถš็™บใ—ใ†ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็‰นๅพดใ‚’้‘‘ใฟใฆใ€ใƒจใƒผใƒญใƒƒใƒ‘ๅฐๅ…MDS็ ”็ฉถใ‚ฐใƒซใƒผใƒ— (EWOG)ใฏ2003ๅนดใซๅฐๅ…็‹ฌ่‡ชใฎMDS/MPD (้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ)็—…ๅž‹ๅˆ†้กžใ‚’ๆๆกˆใ—ใŸ1)ใ€‚WHOๅˆ†้กž็ฌฌ๏ผ”็‰ˆใซใŠใ„ใฆใ‚‚ใ“ใฎๅˆ†้กžใŒๆŽก็”จใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚่กจ ๅฐๅ…MDS/MPD็—…ๅž‹ๅˆ†้กž1)*่จป๏ผš AMLใจMDSใ‚’ใ‚ใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ใจใ—ใฆWHOๅˆ†้กžใฏ20%ใ‚’็”จใ„ใฆใ„ใ‚‹ใŒใ€ใ“ใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ๅ€คใฎๆ„็พฉใŒๅฐๅ…ใงใฏไธๆ˜Žใงใ‚ใ‚‹ใจใฎ็†็”ฑใ‹ใ‚‰EWOGใฏใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’30%ใจใ—ใฆFABๅˆ†้กžใง็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸRAEB-Tใ‚’MDSใซๆฎ‹ใ—ใฆใ„ใ‚‹ใ€‚ๆœฌๆฆ‚่ฆใฏAMLใฎ่จบๆ–ญๆฆ‚่ฆใจใฎๆ•ดๅˆๆ€งใ‚’้‘‘ใฟใฆใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’20%ใจใ—ใŸใ€‚ - 2200019 - + + 44 + ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Š็„กๅŠน้€ ่ก€ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…(AML)ใซ้€ฒ่กŒใ™ใ‚‹ใƒชใ‚นใ‚ฏใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆœซๆขข่ก€ใŠใ‚ˆใณ้ชจ้ซ„ใซใŠใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใซใ‚ˆใฃใฆ็—…ๅƒใŒ็•ฐใชใ‚Šใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„MDSใฏ็„กๅŠน้€ ่ก€ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใŒไธปไฝ“ใจใชใฃใฆๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ (AA)ใจใฎ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹ใฎใซๅฏพใ—ใฆใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ†MDSใฏAMLใซ่ฟ‘ใ„็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ๅฐๅ…ใฎMDSใฏใพใ‚Œใงใ€ๆˆไบบใฎใ‚‚ใฎใจใฏ็•ฐใชใ‚‹็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจ 5q-็—‡ๅ€™็พคใฏๅฐๅ…ใงใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ไธ€ๆ–นใงFanconi่ฒง่ก€ใชใฉใฎ้บไผๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค (inherited bone marrow failure syndrome: IBMFS)ใ‚„Down็—‡ๅ€™็พคใ€€(Down syndrome; DS)ใชใฉๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ ใพใŸใ€ๆ‚ชๆ€ง่…ซ็˜ใซๅฏพใ™ใ‚‹ๅŒ–ๅญฆ็™‚ๆณ•ใƒปๆ”พๅฐ„็ทšๆฒป็™‚ใ€AAใซๅฏพใ™ใ‚‹ๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใชใฉใซ็ถš็™บใ—ใ†ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็‰นๅพดใ‚’้‘‘ใฟใฆใ€ใƒจใƒผใƒญใƒƒใƒ‘ๅฐๅ…MDS็ ”็ฉถใ‚ฐใƒซใƒผใƒ— (EWOG)ใฏ2003ๅนดใซๅฐๅ…็‹ฌ่‡ชใฎMDS/MPD (้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ)็—…ๅž‹ๅˆ†้กžใ‚’ๆๆกˆใ—ใŸ1)ใ€‚WHOๅˆ†้กž็ฌฌ๏ผ”็‰ˆใซใŠใ„ใฆใ‚‚ใ“ใฎๅˆ†้กžใŒๆŽก็”จใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚่กจ ๅฐๅ…MDS/MPD็—…ๅž‹ๅˆ†้กž1)*่จป๏ผš AMLใจMDSใ‚’ใ‚ใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ใจใ—ใฆWHOๅˆ†้กžใฏ20%ใ‚’็”จใ„ใฆใ„ใ‚‹ใŒใ€ใ“ใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ๅ€คใฎๆ„็พฉใŒๅฐๅ…ใงใฏไธๆ˜Žใงใ‚ใ‚‹ใจใฎ็†็”ฑใ‹ใ‚‰EWOGใฏใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’30%ใจใ—ใฆFABๅˆ†้กžใง็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸRAEB-Tใ‚’MDSใซๆฎ‹ใ—ใฆใ„ใ‚‹ใ€‚ๆœฌๆฆ‚่ฆใฏAMLใฎ่จบๆ–ญๆฆ‚่ฆใจใฎๆ•ดๅˆๆ€งใ‚’้‘‘ใฟใฆใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’20%ใจใ—ใŸใ€‚ + NANDO:2200019 + Myelodysplastic syndrome + ใ“ใคใšใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค - + ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค - - 86 - ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚ - 2200020 - + + 86 + ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚ + NANDO:2200020 + Mature B-cell lymphoma + ใ›ใ„ใ˜ใ‚…ใใณใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚… ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - + + ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - - 90 - ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚ - 2200021 - + + 90 + ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ๏ผˆALCL๏ผ‰ใฏใ€NHLใซๅฑžใ—ใ€ๅ…็–ซ่กจ็พๅž‹ใฏไธปใจใ—ใฆๆˆ็†ŸT็ดฐ่ƒžๅž‹ใงใ‚ใ‚‹ใŒใ€ใƒŒใƒซ็ดฐ่ƒžๅž‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จใฆใฎ็—‡ไพ‹ใงCD30ใŒ้™ฝๆ€งใจใชใ‚‹ใ€‚90%ไปฅไธŠใฎ็—‡ไพ‹ใงALK้บไผๅญๅ†ๆง‹ๆˆ้™ฝๆ€งใจใชใ‚‹ใ€‚WHOๅˆ†้กžๆ”นๅฎš็ฌฌ4็‰ˆใงใฏใ€ALK้™ฝๆ€งใจ้™ฐๆ€งใงALCLใฎ็—…ๅž‹ใ‚’ๅŒบๅˆฅใ—ใฆๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2200021 + Anaplastic large cell lymphoma + ใฟใถใ‚“ใ‹ใ ใ„ใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚… ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - + ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - - 88 - ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚ - 2200022 - + + 88 + ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆLBL๏ผ‰ใฏNHLใซๅฑžใ—ใ€Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆB-LBL๏ผ‰ใฏterminal deoxynucleotidyl transferase๏ผˆTdT๏ผ‰้™ฝๆ€งใงๅ‰้ง†B็ดฐ่ƒžๅž‹ใฎ่กจ็พๅž‹ใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้ชจ้ซ„ใซๆตธๆฝคใŒใ‚ใ‚‹ๅ ดๅˆใ€LBLใจๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…๏ผˆALL๏ผ‰ใฎๆ˜Ž็ขบใชๅŒบๅˆฅใฏ้›ฃใ—ใ„ใŒใ€ๅพ“ๆฅใ€้ชจ้ซ„่Šฝ็ƒใŒ25%ไปฅไธŠใงใ‚ใ‚‹ๅ ดๅˆใ‚’ALLใจใ—ใ€25๏ผ…ๆœชๆบ€ใ‚’LBLใจใ—ใฆใ„ใ‚‹ใ€‚WHOๅˆ†้กžใฏLBLใจALLใ‚’ๅŒใ˜็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2200022 + Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ Precursor B lymphoblastic lymphoma + ใณใƒผใ‚Šใ‚“ใฑใŒใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚… - + + Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ - - 87 - ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚ - 2200023 - + + 87 + ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆLBL๏ผ‰ใฏNHLใซๅฑžใ—ใ€Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆT-LBL๏ผ‰ใฏterminal deoxynucleotidyl transferase๏ผˆTdT๏ผ‰้™ฝๆ€งใงT็ดฐ่ƒžๅž‹ใฎ่กจ็พๅž‹ใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้ชจ้ซ„ใซๆตธๆฝคใŒใ‚ใ‚‹ๅ ดๅˆใ€LBLใจๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…๏ผˆALL๏ผ‰ใฎๆ˜Ž็ขบใชๅŒบๅˆฅใฏ้›ฃใ—ใ„ใŒใ€ๅพ“ๆฅใ€้ชจ้ซ„่Šฝ็ƒใŒ25%ไปฅไธŠใงใ‚ใ‚‹ๅ ดๅˆใ‚’ALLใจใ—ใ€25๏ผ…ๆœชๆบ€ใ‚’LBLใจใ—ใฆใ„ใ‚‹ใ€‚WHOๅˆ†้กžใฏLBLใจALLใ‚’ๅŒใ˜็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚LBLใฏALLใจใฏๅฏพ็…ง็š„ใซใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใฏใปใจใ‚“ใฉๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใŒใ€ๅฐๅ…T-LBLใซใŠใ„ใฆใฏใ€6็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๅ–ชๅคฑ๏ผˆ6q LOH๏ผ‰ใŒไบˆๅพŒไธ่‰ฏใจ้–ข้€ฃใ—ใ€NOTCH1้บไผๅญๅค‰็•ฐใŒไบˆๅพŒ่‰ฏๅฅฝใจ้–ข้€ฃใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200023 + Precursor T lymphoblastic lymphoma Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ + ใฆใƒใƒผใ‚Šใ‚“ใฑใŒใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚… - + Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ - - 89 - ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆHodgkin lymphoma, HL๏ผ‰ใฏใƒชใƒณใƒ‘็ฏ€ใพใŸใฏไป–ใฎใƒชใƒณใƒ‘ๆ€ง็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใƒชใƒณใƒ‘ๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€็ต„็น”ๅญฆ็š„ใซReed-Sternberg็ดฐ่ƒžใพใŸใฏใใฎๅค‰็จฎใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใ€็—…็†ๅƒใฎ็›ธ้•ใ‹ใ‚‰็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹HL (nodular lymphocyte predominance Hodgkin lymphoma: NLPHL)ใจๅคๅ…ธ็š„classical (C) HL [ๆททๅˆๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆmixed cellularity: MCCHL๏ผ‰,็ต็ฏ€ๆ€ง็กฌๅŒ–ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆnodular sclerosis: NSCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒ่ฑŠๅฏŒๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte-rich: LRCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒๆธ›ๅฐ‘ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte depletion: LDCHL๏ผ‰]ใซๅคงๅˆฅใ•ใ‚Œใ‚‹1)ใ€‚ - 2200024 - + + 89 + ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆHodgkin lymphoma, HL๏ผ‰ใฏใƒชใƒณใƒ‘็ฏ€ใพใŸใฏไป–ใฎใƒชใƒณใƒ‘ๆ€ง็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใƒชใƒณใƒ‘ๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€็ต„็น”ๅญฆ็š„ใซReed-Sternberg็ดฐ่ƒžใพใŸใฏใใฎๅค‰็จฎใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใ€็—…็†ๅƒใฎ็›ธ้•ใ‹ใ‚‰็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹HL (nodular lymphocyte predominance Hodgkin lymphoma: NLPHL)ใจๅคๅ…ธ็š„classical (C) HL [ๆททๅˆๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆmixed cellularity: MCCHL๏ผ‰,็ต็ฏ€ๆ€ง็กฌๅŒ–ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆnodular sclerosis: NSCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒ่ฑŠๅฏŒๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte-rich: LRCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒๆธ›ๅฐ‘ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte depletion: LDCHL๏ผ‰]ใซๅคงๅˆฅใ•ใ‚Œใ‚‹1)ใ€‚ + NANDO:2200024 + Hodgkin lymphoma + ใปใ˜ใใ‚“ใ‚Šใ‚“ใฑใ—ใ‚… ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ - + HL Hodgkinใƒชใƒณใƒ‘่…ซ ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ - - 91 - ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚ - 2200025 - + + 91 + ๅฐๅ…ใƒชใƒณใƒ‘่…ซใฏใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ (HL)ใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ (NHL)ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใŒใ€NHLใฎใ†ใกๅฐ‘ๆ•ฐไพ‹ใงใฏใ‚ใ‚‹ใŒใ€ๆˆ็†ŸB็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ๏ผŒใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผŒๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซไปฅๅค–ใฎใ‚‚ใฎใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใใ‚Œใ‚‰็จ€ใชใƒชใƒณใƒ‘่…ซใฏใ€ใ™ในใฆใ‚’ๅˆ่จˆใ—ใฆใ‚‚ๅฐๅ…ใƒชใƒณใƒ‘่…ซใฎๆ•ฐ%ใงใ‚ใ‚‹ใŒใ€ๆฏ”่ผƒ็š„ใ‚ˆใใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใจใ—ใฆๆˆ็†ŸB็ดฐ่ƒž็”ฑๆฅใงใฏใ€ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ (FL)๏ผŒๅŽŸ็™บๆ€ง็ธฆ้š”ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ (PMBCL)ใŒใ‚ใ‚Šใ€ใใฎไป–ๆˆ็†ŸT็ดฐ่ƒžใชใฉใ‚’็”ฑๆฅใจใ™ใ‚‹ใ‚‚ใฎใฏใ€ๆœซๆขขๆ€งT็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹ (PTCL-NOS)ใ€็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ(ENKTL)ใ€่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซใ€ใใ—ใฆ็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200025 + + 18ใ‹ใ‚‰22ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚Šใ‚“ใฑใ—ใ‚… 18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ Other malignant lymphomas - + 18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ - - 91 - 2200026 - + + 91 + NANDO:2200026 + Pediatric follicular lymphoma + ใ—ใ‚‡ใ†ใซใ‚ใปใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚… ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ - + + ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ - - 91 - 2200027 - + + 91 + NANDO:2200027 + Extranodal NK/T-cell lymphoma, nasal type + ใ›ใคใŒใ„ใ›ใ„ใˆใฌใ‘ใƒผ/ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…-ใฏใชใŒใŸ ็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹ - + ็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹ - - 91 - 2200028 - + + 91 + NANDO:2200028 + Peripheral T-cell lymphoma, not otherwise specified + ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…-ใฒใจใใฆใ„ใŒใŸ ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹ - + ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹ - - 91 - 2200029 - + + 91 + NANDO:2200029 + Angioimmunoblastic T-cell lymphoma + ใ‘ใฃใ‹ใ‚“ใ‚ใ‚“ใˆใใŒใใ‚…ใ†ใ›ใ„ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚… ่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - + ่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - - 91 - 2200030 - + + 91 + NANDO:2200030 + Sucutaneous panniculitis-like T-cell lymphoma + ใฒใ‹ใ—ใผใ†ใ—ใใˆใ‚“ใ‚ˆใ†ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚… ็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - + + ็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ - - 46 - ็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200031 - + + 46 + ็ต„็น”็ƒ็—‡ใฏใ€ๆจน็Šถ็ดฐ่ƒžใพใŸใฏใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ็”ฑๆฅใ™ใ‚‹ใจ็ดฐ่ƒžๅข—ๆฎ–ใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2016ๅนดใซHistiocyte Societyใ‹ใ‚‰ๆ–ฐใŸใชๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€๏ผ‘๏ผ‰Langerhans-related (L-Group)ใ€2๏ผ‰Cutaneous and mucocutaneous (C-Group)ใ€3๏ผ‰Malignant histiocytosis (M-Group)ใ€4๏ผ‰Rosai-Dorfman diseaseใ€๏ผ•๏ผ‰Hemophagocytic lymphohistiocytosis (H-Group)ใฎ5ๅˆ†้กžใซๅคงๅˆฅใ•ใ‚ŒใŸใ€‚L-Groupใซๅซใพใ‚Œใ‚‹ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใฏ็ต„็น”็ƒ็—‡ใฎไธญใงๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใใ€็ต„็น”็ƒ็—‡ใฏ๏ผ‘๏ผ‰LCHใจ๏ผ’๏ผ‰้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆNon-LCH๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ [1]ใ€‚ + NANDO:2200031 + Langerhans cell histiocytosis + ใ‚‰ใ‚“ใ’ใ‚‹ใฏใ‚“ใ™ใ•ใ„ใผใ†ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ† ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ - + LCH Langerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡ - ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ - - 45 - ็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200032 - + + 45 + ็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200032 + Hemophagocytic lymphohistiocytosis + ใ‘ใฃใใ‚…ใ†ใฉใ‚“ใ—ใ‚‡ใใ›ใ„ใ‚Šใ‚“ใฑใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ† ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡ - + HLH + Haemophagocytic lymphohistiocytosis ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡ - - 47 - ็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200033 - + + 47 + ็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200033 + + 24ใŠใ‚ˆใณ25ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ† 24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡ Other histiocytosis - + 24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡ - - 47 - 2200034 - + + 47 + NANDO:2200034 + Follicular dendritic cell sarcoma + ใ‚ใปใ†ใ˜ใ‚…ใ˜ใ‚‡ใ†ใ•ใ„ใผใ†ใซใใ—ใ‚… ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ - - + ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ - - 47 - 2200035 - + + 47 + NANDO:2200035 + Interdigitating dendritic cell sarcoma + ใ—ใ˜ใ‚‡ใ†ใ‹ใ‚“ใซใ‚…ใ†ใ˜ใ‚…ใ˜ใ‚‡ใ†ใ•ใ„ใผใ†ใซใใ—ใ‚… ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ - + ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ - - 47 - 2200036 - + + 47 + NANDO:2200036 + Langerhans cell sarcoma + ใ‚‰ใ‚“ใ’ใ‚‹ใฏใ‚“ใ™ใ•ใ„ใผใ†ใซใใ—ใ‚… ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ - + ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ - - 47 - 2200037 - + + 47 + NANDO:2200037 + Juvenile xanthogranuloma + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใŠใ†ใ—ใ‚‡ใใซใใ’ใ—ใ‚… ่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ - + ่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ - - 47 - 2200038 - + + 47 + NANDO:2200038 + Erdheim-Chester disease + ใˆใ‚‹ใฉใฏใ„ใ‚€ใƒปใกใ‡ใ™ใŸใƒผใณใ‚‡ใ† ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—… - + ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—… - - 47 - 2200039 - + + 47 + NANDO:2200039 + Rosai-Dorfman disease + ใ‚ใ•ใ„ใƒปใฉใ‚‹ใตใพใ‚“ใณใ‚‡ใ† ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—… - - + RDD Sinus histiocytosis with massive lymphadenopathy - ๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡ + ๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡ | Rosai-Dorfman็—… - ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—… - - 20 - ็ฅž็ตŒ่Šฝ่…ซใฏ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญVMA/HVAใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡30๏ฝž40%ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200040 - + + 20 + ็ฅž็ตŒ่Šฝ่…ซใฏ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญVMA/HVAใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡30๏ฝž40%ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200040 + Neuroblastoma + ใ—ใ‚“ใ‘ใ„ใŒใ—ใ‚… ็ฅž็ตŒ่Šฝ่…ซ - + ็ฅž็ตŒ่Šฝ่…ซ - - 21 - ็ฅž็ตŒ็ฏ€่Šฝ่…ซใฏ็ฅž็ตŒ่Šฝ่…ซ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญ VMA / HVA ใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡ 30 ๏ฝž 40 % ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200041 - + + 21 + ็ฅž็ตŒ็ฏ€่Šฝ่…ซใฏ็ฅž็ตŒ่Šฝ่…ซ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญ VMA / HVA ใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡ 30 ๏ฝž 40 % ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200041 + Ganglioneuroblastoma + ใ—ใ‚“ใ‘ใ„ใ›ใคใŒใ—ใ‚… ็ฅž็ตŒ็ฏ€่Šฝ่…ซ - + ็ฅž็ตŒ็ฏ€่Šฝ่…ซ - - 40 - ็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€่ƒŽๅ…ๆ€ง็ฅž็ตŒ็ถฒ่†œ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚่…ซ็˜ใŒ็‰‡็œผใฎใฟใซ็™บ็—‡ใ™ใ‚‹็‰‡ๅดๆ€ง๏ผˆunilateral๏ผ‰ใจไธก็œผใซ็™บ็—‡ใ™ใ‚‹ไธก็œผๆ€ง๏ผˆbilateral๏ผ‰ใŒใ‚ใ‚‹ใ€‚็œผ็ƒใซ่…ซ็˜ใ‚’ๅ˜ๆ•ฐ่ชใ‚ใ‚‹ๅ˜ๅทฃๆ€ง(unifocal)ใ€ๅคšๆ•ฐๅŒๆ™‚ใซ่ชใ‚ใ‚‹ๅคšๅทฃๆ€ง(multifocal)ใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใฎๆง˜ๅผใซใ‚ˆใ‚Šใ€้บไผๆ€ง(hereditary)ใ€้ž้บไผๆ€ง(non-hereditary)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€13็•ชๆŸ“่‰ฒไฝ“ใฎ้•ท่…•ใฎใƒใƒณใƒ‰14(13q14)ใซๅญ˜ๅœจใ™ใ‚‹็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ้บไผๅญ(RB1้บไผๅญ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚RB๏ผ‘้บไผๅญใฏใ€ใŒใ‚“ๆŠ‘ๅˆถ้บไผๅญใฎๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸ้บไผๅญใงใ‚ใ‚Šใ€็ดฐ่ƒžๅ‘จๆœŸใฎๅˆถๅพกใ‚’ใฏใ˜ใ‚ใ€็ดฐ่ƒžใฎๅˆ†่ฃ‚ๅข—ๆฎ–ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ€‚2ๅฏพใฎ้บไผๅญใฎๅŒๆ–นใซ็•ฐๅธธใŒใŠใ“ใ‚Šใ€ใใฎๆฉŸ่ƒฝใŒๆฌ ๅคฑใ—ใฆ็™บ็—‡ใซใ„ใŸใ‚‹๏ผˆKnudsonใฎ๏ผ’ใƒ’ใƒƒใƒˆ่ชฌ๏ผ‰ใ€‚้บไผๆ€งไพ‹ใงใฏใ€RB๏ผ‘้บไผๅญ็•ฐๅธธใŒใ€ๅ—็ฒพๆ™‚ใซ่ƒš็ดฐ่ƒžใƒฌใƒ™ใƒซใงใŠใ“ใฃใฆใŠใ‚Š๏ผˆgerm line mutation็”Ÿๆฎ–็ดฐ่ƒž็ณปๅˆ—ๅค‰็•ฐ๏ผ‰ใ€ๅ…จ่บซใฎใ‚ใ‚‰ใ‚†ใ‚‹็ดฐ่ƒžใซ้บไผๅญ็•ฐๅธธใ‚’ใ‚‚ใกใ€ๅพŒใซไบŒๆฌกใŒใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚้ž้บไผๆ€งไพ‹ใงใฏใ€ๅ—็ฒพๅพŒใซไฝ“็ดฐ่ƒžใƒฌใƒ™ใƒซใง้บไผๅญ็•ฐๅธธใ‚’ใŠใ“ใ—๏ผˆsomatic mutation ไฝ“็ดฐ่ƒžๅค‰็•ฐ๏ผ‰็™บ็—‡ใซใ„ใŸใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไบŒๆฌกใŒใ‚“ใฎ็™บ็—‡ใฏไธ€่ˆฌไบบใจๅค‰ใ‚ใ‚Šใชใ„ใ€‚ - 2200042 - + + 40 + ็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€่ƒŽๅ…ๆ€ง็ฅž็ตŒ็ถฒ่†œ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚่…ซ็˜ใŒ็‰‡็œผใฎใฟใซ็™บ็—‡ใ™ใ‚‹็‰‡ๅดๆ€ง๏ผˆunilateral๏ผ‰ใจไธก็œผใซ็™บ็—‡ใ™ใ‚‹ไธก็œผๆ€ง๏ผˆbilateral๏ผ‰ใŒใ‚ใ‚‹ใ€‚็œผ็ƒใซ่…ซ็˜ใ‚’ๅ˜ๆ•ฐ่ชใ‚ใ‚‹ๅ˜ๅทฃๆ€ง(unifocal)ใ€ๅคšๆ•ฐๅŒๆ™‚ใซ่ชใ‚ใ‚‹ๅคšๅทฃๆ€ง(multifocal)ใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใฎๆง˜ๅผใซใ‚ˆใ‚Šใ€้บไผๆ€ง(hereditary)ใ€้ž้บไผๆ€ง(non-hereditary)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€13็•ชๆŸ“่‰ฒไฝ“ใฎ้•ท่…•ใฎใƒใƒณใƒ‰14(13q14)ใซๅญ˜ๅœจใ™ใ‚‹็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ้บไผๅญ(RB1้บไผๅญ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚RB๏ผ‘้บไผๅญใฏใ€ใŒใ‚“ๆŠ‘ๅˆถ้บไผๅญใฎๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸ้บไผๅญใงใ‚ใ‚Šใ€็ดฐ่ƒžๅ‘จๆœŸใฎๅˆถๅพกใ‚’ใฏใ˜ใ‚ใ€็ดฐ่ƒžใฎๅˆ†่ฃ‚ๅข—ๆฎ–ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ€‚2ๅฏพใฎ้บไผๅญใฎๅŒๆ–นใซ็•ฐๅธธใŒใŠใ“ใ‚Šใ€ใใฎๆฉŸ่ƒฝใŒๆฌ ๅคฑใ—ใฆ็™บ็—‡ใซใ„ใŸใ‚‹๏ผˆKnudsonใฎ๏ผ’ใƒ’ใƒƒใƒˆ่ชฌ๏ผ‰ใ€‚้บไผๆ€งไพ‹ใงใฏใ€RB๏ผ‘้บไผๅญ็•ฐๅธธใŒใ€ๅ—็ฒพๆ™‚ใซ่ƒš็ดฐ่ƒžใƒฌใƒ™ใƒซใงใŠใ“ใฃใฆใŠใ‚Š๏ผˆgerm line mutation็”Ÿๆฎ–็ดฐ่ƒž็ณปๅˆ—ๅค‰็•ฐ๏ผ‰ใ€ๅ…จ่บซใฎใ‚ใ‚‰ใ‚†ใ‚‹็ดฐ่ƒžใซ้บไผๅญ็•ฐๅธธใ‚’ใ‚‚ใกใ€ๅพŒใซไบŒๆฌกใŒใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚้ž้บไผๆ€งไพ‹ใงใฏใ€ๅ—็ฒพๅพŒใซไฝ“็ดฐ่ƒžใƒฌใƒ™ใƒซใง้บไผๅญ็•ฐๅธธใ‚’ใŠใ“ใ—๏ผˆsomatic mutation ไฝ“็ดฐ่ƒžๅค‰็•ฐ๏ผ‰็™บ็—‡ใซใ„ใŸใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไบŒๆฌกใŒใ‚“ใฎ็™บ็—‡ใฏไธ€่ˆฌไบบใจๅค‰ใ‚ใ‚Šใชใ„ใ€‚ + NANDO:2200042 + Retinoblastoma + ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚… ็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ - + ็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ - - 5 - ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚ - 2200043 - + + 5 + ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚ + NANDO:2200043 + Wilms tumour + ใ†ใƒใ‚‹ใ‚€ใ™ใ—ใ‚…ใ‚ˆใ†๏ผใ˜ใ‚“ใŒใ—ใ‚… ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ - - + Nephroblastoma ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜ ่…Ž่Šฝ่…ซ - ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ - - 23 - ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚ - 2200044 - + + 23 + ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚ + NANDO:2200044 + Clear cell sarcoma of the kidney + ใ˜ใ‚“ใ‚ใ„ใ•ใ„ใผใ†ใซใใ—ใ‚… ่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ - + ่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ - - 22 - ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚ - 2200045 - + + 22 + ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚ + NANDO:2200045 + Renal cell carcinoma + ใ˜ใ‚“ใ•ใ„ใผใ†ใŒใ‚“ ่…Ž็ดฐ่ƒž็™Œ - + ่…Ž็ดฐ่ƒž็™Œ - - 9 - ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚ - 2200046 - + + 9 + ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200046 + Hepatoblastoma + ใ‹ใ‚“ใŒใ—ใ‚… ่‚่Šฝ่…ซ - - + ่‚่Šฝ่…ซ - - 10 - ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚ - 2200047 - + + 10 + ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200047 + Hepatocellular carcinoma + ใ‹ใ‚“ใ•ใ„ใผใ†ใŒใ‚“ ่‚็ดฐ่ƒž็™Œ - + ่‚็ดฐ่ƒž็™Œ - - 15 - ้ชจ่‚‰่…ซ๏ผˆosteosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจใ‚’ๅฝขๆˆใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่ก€็ฎกๆ‹กๅผตๅž‹้ชจ่‚‰่…ซ๏ผŒๅฐ็ดฐ่ƒžๅž‹้ชจ่‚‰่…ซ๏ผŒไฝŽๆ‚ชๆ€งๅบฆไธญๅฟƒๆ€ง้ชจ่‚‰่…ซ๏ผŒๆ”พๅฐ„็ทš็…งๅฐ„ๅพŒใ‚„Paget็—…ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€ง้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใฏ็ต„็น”ๅญฆ็š„ใซosteoblastic type๏ผŒchondroblastic type๏ผŒfibroblastic typeใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ - 2200048 - + + 15 + ้ชจ่‚‰่…ซ๏ผˆosteosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจใ‚’ๅฝขๆˆใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่ก€็ฎกๆ‹กๅผตๅž‹้ชจ่‚‰่…ซ๏ผŒๅฐ็ดฐ่ƒžๅž‹้ชจ่‚‰่…ซ๏ผŒไฝŽๆ‚ชๆ€งๅบฆไธญๅฟƒๆ€ง้ชจ่‚‰่…ซ๏ผŒๆ”พๅฐ„็ทš็…งๅฐ„ๅพŒใ‚„Paget็—…ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€ง้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใฏ็ต„็น”ๅญฆ็š„ใซosteoblastic type๏ผŒchondroblastic type๏ผŒfibroblastic typeใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ + NANDO:2200048 + Osteosarcoma + ใ“ใคใซใใ—ใ‚… ้ชจ่‚‰่…ซ - + ้ชจ่‚‰่…ซ - - 14 - ้ชจ่ปŸ้ชจ่…ซ๏ผˆosteochondroma๏ผ‰ใจใฏ้•ท็ฎก้ชจใฎๆˆ้•ท่ปŸ้ชจๅ‘จๅ›ฒใซ็™บ็”Ÿใ™ใ‚‹่ปŸ้ชจๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚Š๏ผŒ้ชจใฎๅค–ๅดใซๅ‘ใ‹ใฃใฆ้š†่ตทๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ“ใจใ‹ใ‚‰ๅค–้ชจ่…ซ๏ผˆexostosis๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผŽ็•ฐๆ‰€ๆ€งใซๆˆ้•ท่ปŸ้ชจๆง˜่ปŸ้ชจ็ดฐ่ƒž้›†ๅ›ฃใŒ็™บ็”Ÿใ—๏ผŒๆˆ้•ทใซไผดใฃใฆๆˆ้•ท่ปŸ้ชจใจๅŒๆง˜ใซ่ปŸ้ชจๅข—ๆฎ–ใจ่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ่ตทใใ‚‹ใŸใ‚๏ผŒใใฎๅ…ˆ็ซฏใซ่ปŸ้ชจๅธฝใจใ‚ˆใฐใ‚Œใ‚‹่ปŸ้ชจ็ต„็น”ใ‚’ๆœ‰ใ™ใ‚‹้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹๏ผŽๅ…ธๅž‹็š„ใชๅ˜็ด”X็ทšๅƒใฏ้•ท็ฎก้ชจ้ชจ็ซฏๅ‘จๅ›ฒใฎ้ชจใจใฎ้€ฃ็ถšๆ€งใ‚’ๆœ‰ใ™ใ‚‹ๆœ‰่ŒŽๆ€งใพใŸใฏๅบƒๅŸบๆ€งใฎ้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใงใ‚ใ‚‹๏ผŽ่ปŸ้ชจๅธฝใฏๅ˜็ด”X็ทšใงใฏๅŒๅฎšใงใใชใ„ใŒ๏ผŒ็Ÿณ็ฐๅŒ–ใซใ‚ˆใ‚Š็ขบ่ชใงใใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ชจ่ปŸ้ชจ่…ซใฏๅ˜็™บๆ€ง๏ผŒๅคš็™บๆ€งใŒใ‚ใ‚‹๏ผŽๅ˜็™บๆ€งใฏ้€šๅธธๅญค็™บๆ€งใงใ‚ใ‚Š๏ผŒๅคš็™บๆ€งใฏ90%ใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹๏ผŽๅฎถๆ—ๆ€งใซ็™บ็”Ÿใ™ใ‚‹ๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚’ๅ…ˆๅคฉๆ€งๅคš็™บๆ€งๅค–้ชจ่…ซ๏ผˆhereditary multiple exostosis: HME๏ผ‰ใจๅ‘ผใถ๏ผŽ - 2200049 - + + 14 + ้ชจ่ปŸ้ชจ่…ซ๏ผˆosteochondroma๏ผ‰ใจใฏ้•ท็ฎก้ชจใฎๆˆ้•ท่ปŸ้ชจๅ‘จๅ›ฒใซ็™บ็”Ÿใ™ใ‚‹่ปŸ้ชจๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚Š๏ผŒ้ชจใฎๅค–ๅดใซๅ‘ใ‹ใฃใฆ้š†่ตทๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ“ใจใ‹ใ‚‰ๅค–้ชจ่…ซ๏ผˆexostosis๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผŽ็•ฐๆ‰€ๆ€งใซๆˆ้•ท่ปŸ้ชจๆง˜่ปŸ้ชจ็ดฐ่ƒž้›†ๅ›ฃใŒ็™บ็”Ÿใ—๏ผŒๆˆ้•ทใซไผดใฃใฆๆˆ้•ท่ปŸ้ชจใจๅŒๆง˜ใซ่ปŸ้ชจๅข—ๆฎ–ใจ่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ่ตทใใ‚‹ใŸใ‚๏ผŒใใฎๅ…ˆ็ซฏใซ่ปŸ้ชจๅธฝใจใ‚ˆใฐใ‚Œใ‚‹่ปŸ้ชจ็ต„็น”ใ‚’ๆœ‰ใ™ใ‚‹้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹๏ผŽๅ…ธๅž‹็š„ใชๅ˜็ด”X็ทšๅƒใฏ้•ท็ฎก้ชจ้ชจ็ซฏๅ‘จๅ›ฒใฎ้ชจใจใฎ้€ฃ็ถšๆ€งใ‚’ๆœ‰ใ™ใ‚‹ๆœ‰่ŒŽๆ€งใพใŸใฏๅบƒๅŸบๆ€งใฎ้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใงใ‚ใ‚‹๏ผŽ่ปŸ้ชจๅธฝใฏๅ˜็ด”X็ทšใงใฏๅŒๅฎšใงใใชใ„ใŒ๏ผŒ็Ÿณ็ฐๅŒ–ใซใ‚ˆใ‚Š็ขบ่ชใงใใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ชจ่ปŸ้ชจ่…ซใฏๅ˜็™บๆ€ง๏ผŒๅคš็™บๆ€งใŒใ‚ใ‚‹๏ผŽๅ˜็™บๆ€งใฏ้€šๅธธๅญค็™บๆ€งใงใ‚ใ‚Š๏ผŒๅคš็™บๆ€งใฏ90%ใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹๏ผŽๅฎถๆ—ๆ€งใซ็™บ็”Ÿใ™ใ‚‹ๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚’ๅ…ˆๅคฉๆ€งๅคš็™บๆ€งๅค–้ชจ่…ซ๏ผˆhereditary multiple exostosis: HME๏ผ‰ใจๅ‘ผใถ๏ผŽ + NANDO:2200049 + Osteochondromatosis + ใ“ใคใชใ‚“ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ† ้ชจ่ปŸ้ชจ่…ซ็—‡ - + - ้ชจ่ปŸ้ชจ่…ซ็—‡ - - 32 - ่ปŸ้ชจ่‚‰่…ซ๏ผˆchondrosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใ‚’ไผดใ†ใŒ๏ผŒ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’ไผดใ‚ใชใ„ๆ‚ชๆ€ง้ชจ่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใจ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใฏ้ชจ่‚‰่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผ‰๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่„ฑๅˆ†ๅŒ–ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒ้–“่‘‰ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒๆทกๆ˜Ž็ดฐ่ƒžๅž‹่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใฏ็ดฐ่ƒžๅฏ†ๅบฆใ‚„ๆ ธ็•ฐๅž‹๏ผŒ้ชจๆขใธใฎๆตธๆฝคใชใฉใฎๆ‰€่ฆ‹ใ‹ใ‚‰ไฝŽๆ‚ชๆ€งๅบฆใฎgrade 1๏ผŒ้ซ˜ๆ‚ชๆ€งๅบฆใฎgrade 2๏ผŒgrade 3ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใซใฏ๏ผŒๅŽŸ็™บๆ€ง่ปŸ้ชจ่‚‰่…ซใจๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚„ๅคš็™บๆ€งๅ†…่ปŸ้ชจ่…ซใชใฉใฎๅ…ˆ่กŒ็—…ๅค‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไบŒๆฌกๆ€ง่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ - 2200050 - + + 32 + ่ปŸ้ชจ่‚‰่…ซ๏ผˆchondrosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใ‚’ไผดใ†ใŒ๏ผŒ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’ไผดใ‚ใชใ„ๆ‚ชๆ€ง้ชจ่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใจ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใฏ้ชจ่‚‰่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผ‰๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่„ฑๅˆ†ๅŒ–ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒ้–“่‘‰ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒๆทกๆ˜Ž็ดฐ่ƒžๅž‹่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใฏ็ดฐ่ƒžๅฏ†ๅบฆใ‚„ๆ ธ็•ฐๅž‹๏ผŒ้ชจๆขใธใฎๆตธๆฝคใชใฉใฎๆ‰€่ฆ‹ใ‹ใ‚‰ไฝŽๆ‚ชๆ€งๅบฆใฎgrade 1๏ผŒ้ซ˜ๆ‚ชๆ€งๅบฆใฎgrade 2๏ผŒgrade 3ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใซใฏ๏ผŒๅŽŸ็™บๆ€ง่ปŸ้ชจ่‚‰่…ซใจๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚„ๅคš็™บๆ€งๅ†…่ปŸ้ชจ่…ซใชใฉใฎๅ…ˆ่กŒ็—…ๅค‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไบŒๆฌกๆ€ง่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ + NANDO:2200050 + Chondrosarcoma + ใชใ‚“ใ“ใคใซใใ—ใ‚… ่ปŸ้ชจ่‚‰่…ซ - + ่ปŸ้ชจ่‚‰่…ซ - - 31 - ่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ๏ผˆchondroblastoma๏ผ‰ใฏ๏ผŒๅฐๅ…ใฎ้•ท็ฎก้ชจ้ชจ็ซฏ้ƒจใซๅฅฝ็™บใ™ใ‚‹่ปŸ้ชจๅฝขๆˆๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚‹๏ผŽ็ต„็น”ๅญฆ็š„ใซใฏ็ ด้ชจ็ดฐ่ƒžๅž‹ๅคšๆ ธๅทจ็ดฐ่ƒžใจๅ††ๅฝขใพใŸใฏๅคš่ง’ๅฝขใฎ่ปŸ้ชจ่Šฝ็ดฐ่ƒžๆง˜็ดฐ่ƒžใงๆง‹ๆˆใ•ใ‚Œใ‚‹็ดฐ่ƒžๅฏ†ๅบฆใฎ้ซ˜ใ„ๆฏ”่ผƒ็š„ๆœชๅˆ†ๅŒ–ใช็ต„็น”ใ‚’็‰นๅพดใจใ—๏ผŒ็Ÿณ็ฐๅŒ–ๅทฃใ‚’ไผดใฃใŸ่ปŸ้ชจๆ€งใฎ้–“่ณชใ‚’ไผดใ†่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ - 2200051 - + + 31 + ่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ๏ผˆchondroblastoma๏ผ‰ใฏ๏ผŒๅฐๅ…ใฎ้•ท็ฎก้ชจ้ชจ็ซฏ้ƒจใซๅฅฝ็™บใ™ใ‚‹่ปŸ้ชจๅฝขๆˆๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚‹๏ผŽ็ต„็น”ๅญฆ็š„ใซใฏ็ ด้ชจ็ดฐ่ƒžๅž‹ๅคšๆ ธๅทจ็ดฐ่ƒžใจๅ††ๅฝขใพใŸใฏๅคš่ง’ๅฝขใฎ่ปŸ้ชจ่Šฝ็ดฐ่ƒžๆง˜็ดฐ่ƒžใงๆง‹ๆˆใ•ใ‚Œใ‚‹็ดฐ่ƒžๅฏ†ๅบฆใฎ้ซ˜ใ„ๆฏ”่ผƒ็š„ๆœชๅˆ†ๅŒ–ใช็ต„็น”ใ‚’็‰นๅพดใจใ—๏ผŒ็Ÿณ็ฐๅŒ–ๅทฃใ‚’ไผดใฃใŸ่ปŸ้ชจๆ€งใฎ้–“่ณชใ‚’ไผดใ†่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ + NANDO:2200051 + Chondroblastoma + ใชใ‚“ใ“ใคใŒใ•ใ„ใผใ†ใ—ใ‚… ่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ - + ่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ - - 3 - ้ชจๅทจ็ดฐ่ƒž่…ซ๏ผˆgiant cell tumor of bone๏ผšGCT of bone๏ผ‰ใฏ้กžๅ††ๅฝขใฎๅ˜ๆ ธ่…ซ็˜็ดฐ่ƒžใจๆ•ฃๅœจใ™ใ‚‹ๅคงๅž‹ใฎ็ ด้ชจ็ดฐ่ƒžๆง˜ๅทจ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽใพใ‚Œใซ้ชจๅทจ็ดฐ่ƒž่…ซๅ†…ใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒไฝตๅญ˜ใ—ใŸใ‚Š๏ผˆไธ€ๆฌกๆ€ง๏ผ‰๏ผŒไปฅๅ‰ๅ…ธๅž‹็š„ใช้ชจๅทจ็ดฐ่ƒž่…ซใŒๅญ˜ๅœจใ—ใŸ้ƒจไฝใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒ็™บ็”Ÿใ™ใ‚‹๏ผˆไบŒๆฌกๆ€ง๏ผ‰ใ“ใจใŒใ‚ใ‚Š๏ผŒๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใ‚‹๏ผŽๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใฎๅคง้ƒจๅˆ†ใฏไบŒๆฌกๆ€งใงใ‚ใ‚Š๏ผŒใใฎๅคšใใฏๆ”พๅฐ„็ทšๆฒป็™‚ๅพŒใซ็™บ็”Ÿใ—ใŸใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ2013ๅนด็‰ˆใฎWHOๅˆ†้กžใงใฏไธก่€…ใฏโ€œMalignancy in GCTโ€ใจ็ท็งฐใ•ใ‚ŒใŸ๏ผŽ - 2200052 - + + 3 + ้ชจๅทจ็ดฐ่ƒž่…ซ๏ผˆgiant cell tumor of bone๏ผšGCT of bone๏ผ‰ใฏ้กžๅ††ๅฝขใฎๅ˜ๆ ธ่…ซ็˜็ดฐ่ƒžใจๆ•ฃๅœจใ™ใ‚‹ๅคงๅž‹ใฎ็ ด้ชจ็ดฐ่ƒžๆง˜ๅทจ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽใพใ‚Œใซ้ชจๅทจ็ดฐ่ƒž่…ซๅ†…ใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒไฝตๅญ˜ใ—ใŸใ‚Š๏ผˆไธ€ๆฌกๆ€ง๏ผ‰๏ผŒไปฅๅ‰ๅ…ธๅž‹็š„ใช้ชจๅทจ็ดฐ่ƒž่…ซใŒๅญ˜ๅœจใ—ใŸ้ƒจไฝใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒ็™บ็”Ÿใ™ใ‚‹๏ผˆไบŒๆฌกๆ€ง๏ผ‰ใ“ใจใŒใ‚ใ‚Š๏ผŒๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใ‚‹๏ผŽๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใฎๅคง้ƒจๅˆ†ใฏไบŒๆฌกๆ€งใงใ‚ใ‚Š๏ผŒใใฎๅคšใใฏๆ”พๅฐ„็ทšๆฒป็™‚ๅพŒใซ็™บ็”Ÿใ—ใŸใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ2013ๅนด็‰ˆใฎWHOๅˆ†้กžใงใฏไธก่€…ใฏโ€œMalignancy in GCTโ€ใจ็ท็งฐใ•ใ‚ŒใŸ๏ผŽ + NANDO:2200052 + Malignancy in giant cell tumour of bone + ใ‚ใใ›ใ„ใ“ใคใใ‚‡ใ•ใ„ใผใ†ใ—ใ‚… ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ - + + ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ - - 41 - Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200053 - + + 41 + Ewing่‚‰่…ซ (Ewing Sarcoma)ใฏใ€ไธปใซๅฐๅ…ใ‹ใ‚‰่‹ฅๅนดๆˆไบบใซๅคšใ็™บ็—‡ใ™ใ‚‹้ชจ่ปŸ้ƒจ่‚‰่…ซใงใ‚ใ‚‹ใ€‚1921ๅนดใ€James Ewingใซใ‚ˆใ‚Šใ€้ชจ่‚‰่…ซใจใฏ็—…็†ๅญฆ็š„ใซๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใ‚‹้ชจๅŽŸ็™บใฎๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ“ใฎ้ชจๅŽŸ็™บใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ€้ชจๅค–ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใ€ๆœซๆขขๆ€งๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor; pPNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅพŒใซ็—…็†ๅญฆ็š„ใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing sarcoma family of tumors, ESFT)ใจ็งฐใ•ใ‚Œใ‚‹ใ€‚ESFTใฏใ€FET้บไผๅญใƒ•ใ‚กใƒŸใƒชใƒผ๏ผˆTLS/FUS, EWS(EWSR1), TAF15ใชใฉ๏ผ‰ใจETS้บไผๅญใƒ•ใ‚กใƒŸใƒชใƒผ๏ผˆFLI1, ERG, ETV1ใชใฉ๏ผ‰ใŒ่žๅˆใ—ใŸใ‚ญใƒกใƒฉ้บไผๅญใ‚’ใ‚‚ใกใ€ใใฎๅ†…่จณใฏEWS-FLI1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1(<1%)ใ€EWS-FEV(<1%)ใ€ใใฎไป–ใจใชใฃใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200053 + Ewing's sarcoma + ใ‚†ใƒผใ„ใ‚“ใใซใใ—ใ‚… ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ - + Ewing่‚‰่…ซ ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ - - 36 - Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200054 - + + 36 + Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200054 + primitive neuroectodermal tumors - ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ + ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฎใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ + ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆๆœซๆขขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ + + ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆๆœซๆขขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 36 - 2200055 - + + 36 + NANDO:2200055 + Peripheral primitive neuroectodermal tumors + ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ† ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ - + + ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ - - 6 - ๅฐ†ๆฅ้ชจๆ ผ็ญ‹ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ‚ชๆ€ง่ปขๅŒ–ๅพŒใซ้ชจๆ ผ็ญ‹ๅˆ†ๅŒ–่ƒฝใ‚’็™บ็พใ—ใŸ่ƒŽๅ…ใฎไธญ่ƒš่‘‰ใพใŸใฏ้–“่‘‰็ต„็น”ใซ็”ฑๆฅใ™ใ‚‹ใ€้ชจๆ ผ็ญ‹ใฎๅฝข่ณชใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚ - 2200056 - + + 6 + ๅฐ†ๆฅ้ชจๆ ผ็ญ‹ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ‚ชๆ€ง่ปขๅŒ–ๅพŒใซ้ชจๆ ผ็ญ‹ๅˆ†ๅŒ–่ƒฝใ‚’็™บ็พใ—ใŸ่ƒŽๅ…ใฎไธญ่ƒš่‘‰ใพใŸใฏ้–“่‘‰็ต„็น”ใซ็”ฑๆฅใ™ใ‚‹ใ€้ชจๆ ผ็ญ‹ใฎๅฝข่ณชใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200056 + Rhabdomyosarcoma + ใŠใ†ใ‚‚ใ‚“ใใ‚“ใซใใ—ใ‚… ๆจช็ด‹็ญ‹่‚‰่…ซ - + ๆจช็ด‹็ญ‹่‚‰่…ซ - - 4 - ๆœฌ็–พๆ‚ฃใฏไธปใซ่…Žใ€่‚ใ€่ปŸ้ƒจ็ต„็น”ใ€ไธญๆžข็ฅž็ตŒใชใฉไฝ“ใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใจ่…Žใชใฉ่ค‡ๆ•ฐใซๅŒๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใ„ใฃใŸ็—…ๆ…‹ใซใคใ„ใฆใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚1978ๅนดใซBeckwithใ‚‰ใซใ‚ˆใฃใฆใ€ๅฐๅ…่…Ž่…ซ็˜ใฎไธญใงไบˆๅพŒไธ่‰ฏๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œmalignant rhabdoid tumor of the kidneyใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€ๆ—ฅๆœฌใงใฏๆ‚ชๆ€งๆจช็ด‹็ญ‹่‚‰่…ซๆง˜่…ซ็˜ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ•ใ‚Œใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€้กžๅ††ๅฝขใฎ่…ซๅคงใ—ใŸๆ ธใจ็ดฐ่ƒž่ณชใซๅฅฝ้…ธๆ€ง็ดฐ่ƒž่ณชๅฐๅ…ฅไฝ“ใ‚’ๆœ‰ใ™ใ‚‹ๅ††ๅฝขใฎ ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰็ดฐ่ƒžใŒ็‰นๅพดใงใ€ๅฅฝ้…ธๆ€งๅฐๅ…ฅไฝ“ใฏ็›ดๅพ„ 10nm ใฎไธญ้–“ๅพ„ใƒ•ใ‚ฃใƒฉใƒกใƒณใƒˆใฎใ‹ใ‚‰ใชใฃใฆใ„ใ‚‹ใ€‚1982ๅนดใซGonzalez-Crussiใ‚‰ใซใ‚ˆใฃใฆ่‚ใ‚„่ปŸ้ƒจ็ต„็น”ใชใฉ่…Žๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใคใ„ใง1987ๅนดใซBiggsใ‚‰ใซใ‚ˆใฃใฆไธญๆžข็ฅž็ตŒใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใŒใ€Atypical teratoid/rhabdoid tumor (AT/RT) ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซRorkeใ‚‰ใซใ‚ˆใฃใฆAT/RTใฏ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚1998ๅนดใซVersteegeใ‚‰ใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใซใŠใ„ใฆ22q11.23ไธŠใซๅญ˜ๅœจใ™ใ‚‹hSNF5/INI-1้บไผๅญใฎๅค‰็•ฐใ‚’ๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒใฎsnf5/ini1ใƒŽใƒƒใ‚ฏใ‚ขใ‚ฆใƒˆใƒžใ‚ฆใ‚นใซใŠใ„ใฆใƒžใ‚ฆใ‚นใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็”ŸใŒๅ ฑๅ‘Šใ•ใ‚Œใ€hSNF5/INI-1้บไผๅญใฏ็™ŒๆŠ‘ๅˆถ้บไผๅญใจใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฎๆฌ ๅคฑใƒปๅค‰็•ฐใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€hSNF5/INI-1้บไผๅญใฎ็•ฐๅธธใฏ่…ซ็˜ใฎใฟใชใ‚‰ใšใ€็ด„30๏ผ…็จ‹ๅบฆใฎ็—‡ไพ‹ใงgermlineใงใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใใฎไธ€้ƒจใซๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200057 - + + 4 + ๆœฌ็–พๆ‚ฃใฏไธปใซ่…Žใ€่‚ใ€่ปŸ้ƒจ็ต„็น”ใ€ไธญๆžข็ฅž็ตŒใชใฉไฝ“ใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใจ่…Žใชใฉ่ค‡ๆ•ฐใซๅŒๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใ„ใฃใŸ็—…ๆ…‹ใซใคใ„ใฆใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚1978ๅนดใซBeckwithใ‚‰ใซใ‚ˆใฃใฆใ€ๅฐๅ…่…Ž่…ซ็˜ใฎไธญใงไบˆๅพŒไธ่‰ฏๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œmalignant rhabdoid tumor of the kidneyใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€ๆ—ฅๆœฌใงใฏๆ‚ชๆ€งๆจช็ด‹็ญ‹่‚‰่…ซๆง˜่…ซ็˜ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ•ใ‚Œใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€้กžๅ††ๅฝขใฎ่…ซๅคงใ—ใŸๆ ธใจ็ดฐ่ƒž่ณชใซๅฅฝ้…ธๆ€ง็ดฐ่ƒž่ณชๅฐๅ…ฅไฝ“ใ‚’ๆœ‰ใ™ใ‚‹ๅ††ๅฝขใฎ ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰็ดฐ่ƒžใŒ็‰นๅพดใงใ€ๅฅฝ้…ธๆ€งๅฐๅ…ฅไฝ“ใฏ็›ดๅพ„ 10nm ใฎไธญ้–“ๅพ„ใƒ•ใ‚ฃใƒฉใƒกใƒณใƒˆใฎใ‹ใ‚‰ใชใฃใฆใ„ใ‚‹ใ€‚1982ๅนดใซGonzalez-Crussiใ‚‰ใซใ‚ˆใฃใฆ่‚ใ‚„่ปŸ้ƒจ็ต„็น”ใชใฉ่…Žๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใคใ„ใง1987ๅนดใซBiggsใ‚‰ใซใ‚ˆใฃใฆไธญๆžข็ฅž็ตŒใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใŒใ€Atypical teratoid/rhabdoid tumor (AT/RT) ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซRorkeใ‚‰ใซใ‚ˆใฃใฆAT/RTใฏ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚1998ๅนดใซVersteegeใ‚‰ใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใซใŠใ„ใฆ22q11.23ไธŠใซๅญ˜ๅœจใ™ใ‚‹hSNF5/INI-1้บไผๅญใฎๅค‰็•ฐใ‚’ๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒใฎsnf5/ini1ใƒŽใƒƒใ‚ฏใ‚ขใ‚ฆใƒˆใƒžใ‚ฆใ‚นใซใŠใ„ใฆใƒžใ‚ฆใ‚นใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็”ŸใŒๅ ฑๅ‘Šใ•ใ‚Œใ€hSNF5/INI-1้บไผๅญใฏ็™ŒๆŠ‘ๅˆถ้บไผๅญใจใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฎๆฌ ๅคฑใƒปๅค‰็•ฐใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€hSNF5/INI-1้บไผๅญใฎ็•ฐๅธธใฏ่…ซ็˜ใฎใฟใชใ‚‰ใšใ€็ด„30๏ผ…็จ‹ๅบฆใฎ็—‡ไพ‹ใงgermlineใงใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใใฎไธ€้ƒจใซๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200057 + Malignant rhabdoid tumour + ใ‚ใใ›ใ„ใ‚‰ใถใฉใ„ใฉใ—ใ‚…ใ‚ˆใ† ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ - + ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ - - 37 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200058 - + + 37 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200058 + Undifferentiated sarcoma + ใฟใถใ‚“ใ‹ใซใใ—ใ‚… ๆœชๅˆ†ๅŒ–่‚‰่…ซ - + ๆœชๅˆ†ๅŒ–่‚‰่…ซ - - 26 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200059 - + + 26 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200059 + Dermatofibrosarcoma protuberans + ใ›ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ—ใ‚‡ใ†ใˆใ‚“ใ‘ใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ† ็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜ - + + DSRCT + Desmoplastic small round cell tumors ็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜ - - 27 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200060 - + + 27 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200060 + Fibrosarcoma + ใ›ใ‚“ใ„ใซใใ—ใ‚… ็ทš็ถญ่‚‰่…ซ - + ็ทš็ถญ่‚‰่…ซ - - 8 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200061 - + + 8 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200061 + Synovial sarcoma + ใ‹ใคใพใใซใใ—ใ‚… ๆป‘่†œ่‚‰่…ซ - + ๆป‘่†œ่‚‰่…ซ - - 39 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200062 - + + 39 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200062 + Clear cell sarcoma + ใ‚ใ„ใ•ใ„ใผใ†ใซใใ—ใ‚… ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ - + ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ - - 35 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200063 - + + 35 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200063 + Alveolar soft part sarcoma + ใปใ†ใใ†ใ˜ใ‚‡ใ†ใชใ‚“ใถใซใใ—ใ‚… ่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ - + ่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ - - 34 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200064 - + + 34 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200064 + Leiomyosarcoma + ใธใ„ใ‹ใคใใ‚“ใซใใ—ใ‚… ๅนณๆป‘็ญ‹่‚‰่…ซ - + ๅนณๆป‘็ญ‹่‚‰่…ซ - - 17 - ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200065 - + + 17 + ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200065 + Liposarcoma + ใ—ใผใ†ใซใใ—ใ‚… ่„‚่‚ช่‚‰่…ซ - + ่„‚่‚ช่‚‰่…ซ - - 38 - ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ - 2200066 - + + 38 + ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ + NANDO:2200066 + Dysgerminoma + ใฟใถใ‚“ใ‹ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚… ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ - + - ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ - - 28 - ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ - 2200067 - + + 28 + ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ + NANDO:2200067 + Embryonal carcinoma + ใŸใ„ใ˜ใ›ใ„ใŒใ‚“ ่ƒŽๅ…ๆ€ง็™Œ - - + - ่ƒŽๅ…ๆ€ง็™Œ - - 30 - ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ - 2200068 - + + 30 + ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ + NANDO:2200068 + Polyembryoma + ใŸใŸใ„ใŒใ—ใ‚… ๅคš่ƒŽ่Šฝ่…ซ - - + ๅคš่ƒŽ่Šฝ่…ซ - - 42 - ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ - 2200069 - + + 42 + ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ + NANDO:2200069 + Yolk sac tumour + ใ‚‰ใ‚“ใŠใ†ใฎใ†ใ—ใ‚… ๅต้ป„ๅšข่…ซ - + ๅต้ป„ๅšข่…ซ็˜ + ๅต้ป„ๅšข่…ซ - - 18 - ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ - 2200070 - + + 18 + ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ + NANDO:2200070 + Choriocarcinoma + ใ˜ใ‚…ใ†ใ‚‚ใ†ใŒใ‚“ ็ตจๆฏ›็™Œ - - - + ็ตจๆฏ›็™Œ - - 16 - ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ - 2200071 - + + 16 + ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ + NANDO:2200071 + Mixed germ cell tumour + ใ“ใ‚“ใ”ใ†ใ›ใ„ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ† ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ - + ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ - - 25 - ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ - 2200072 - - Sox-cord stromal tumour + + 25 + ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ + NANDO:2200072 + + Sex-cord stromal tumour + ใ›ใ„ใ•ใใ‹ใ‚“ใ—ใคใ›ใ„ใ—ใ‚…ใ‚ˆใ† ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ - + + ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ - - 33 - ๅ‰ฏ่…Ž็šฎ่ณชใซ็™บ็”Ÿใ™ใ‚‹็จ€ใชๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚ - 2200073 - - Epipharyngeal carcinoma + + 33 + ๅ‰ฏ่…Ž็šฎ่ณชใซ็™บ็”Ÿใ™ใ‚‹็จ€ใชๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200073 + + Adrenocortical carcinoma + ใตใใ˜ใ‚“ใฒใ—ใคใŒใ‚“ ๅ‰ฏ่…Ž็šฎ่ณช็™Œ - + + ๅ‰ฏ่…Ž็šฎ่ณช็™Œ - - 13 - ็”ฒ็Šถ่…บ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ€ๆง˜ใ€…ใช็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ - 2200074 - + + 13 + ็”ฒ็Šถ่…บ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ€ๆง˜ใ€…ใช็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ + NANDO:2200074 + Thyroid cancer + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใŒใ‚“ ็”ฒ็Šถ่…บ็™Œ - + ็”ฒ็Šถ่…บ็™Œ - - 19 - ใŠใŠใ‚ˆใ็กฌๅฃ่“‹ใจ่ปŸๅฃ่“‹ใฎๆŽฅๅˆ้ƒจใฎ้ซ˜ใ•ใ‹ใ‚‰้ ญ่“‹ๅบ•ใพใงใฎไธŠๅ’ฝ้ ญใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ๆŒ‡ใ™ใ€‚ - 2200075 - + + 19 + ใŠใŠใ‚ˆใ็กฌๅฃ่“‹ใจ่ปŸๅฃ่“‹ใฎๆŽฅๅˆ้ƒจใฎ้ซ˜ใ•ใ‹ใ‚‰้ ญ่“‹ๅบ•ใพใงใฎไธŠๅ’ฝ้ ญใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ๆŒ‡ใ™ใ€‚ + NANDO:2200075 + Epipharyngeal carcinoma + ใ˜ใ‚‡ใ†ใ„ใ‚“ใจใ†ใŒใ‚“ ไธŠๅ’ฝ้ ญ็™Œ - + + ไธŠๅ’ฝ้ ญ็™Œ - - 29 - ๅคงๅ”พๆถฒ่…บ๏ผˆ่€ณไธ‹่…บใ€้กŽไธ‹่…บใ€่ˆŒไธ‹่…บ๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ใ•ใ™ใ€‚ - 2200076 - - Salivery grand carcinoma + + 29 + ๅคงๅ”พๆถฒ่…บ๏ผˆ่€ณไธ‹่…บใ€้กŽไธ‹่…บใ€่ˆŒไธ‹่…บ๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ใ•ใ™ใ€‚ + NANDO:2200076 + + Salivary grand carcinoma + ใ ใˆใใ›ใ‚“ใŒใ‚“ ๅ”พๆถฒ่…บ็™Œ - + + ๅ”พๆถฒ่…บ็™Œ - - 2 - ใƒกใƒฉใƒŽใ‚ตใ‚คใƒˆ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚ - 2200077 - + + 2 + ใƒกใƒฉใƒŽใ‚ตใ‚คใƒˆ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200077 + Malignant melanoma + ใ‚ใใ›ใ„ใ“ใใ—ใ‚‡ใใ—ใ‚… ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ - + ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ - - 7 - ๅ‰ฏ่…Ž้ซ„่ณชใฎใ‚ฏใƒญใƒ ่ฆชๅ’Œๆ€ง็ดฐ่ƒžใ‹ใ‚‰็”Ÿใ˜ใŸ่…ซ็˜ใ€‚ๅ‚็ฅž็ตŒ็ฏ€ใ‹ใ‚‰็”Ÿใ˜ใŸใ‚‚ใฎใฏ็‰นใซๅ‚็ฅž็ตŒ็ฏ€่…ซ๏ผˆใƒ‘ใƒฉใ‚ฌใƒณใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใ‚‚ๆคœๆŸปใƒ‡ใƒผใ‚ฟไธŠใ‚‚ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ไผดใ†ๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใ€ใใ†ใงใฏใชใ„้žๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๅ‚็ฅž็ตŒ็ฏ€่…ซใงใฏใ€ไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใจๅ‰ฏไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ - 2200078 - + + 7 + ๅ‰ฏ่…Ž้ซ„่ณชใฎใ‚ฏใƒญใƒ ่ฆชๅ’Œๆ€ง็ดฐ่ƒžใ‹ใ‚‰็”Ÿใ˜ใŸ่…ซ็˜ใ€‚ๅ‚็ฅž็ตŒ็ฏ€ใ‹ใ‚‰็”Ÿใ˜ใŸใ‚‚ใฎใฏ็‰นใซๅ‚็ฅž็ตŒ็ฏ€่…ซ๏ผˆใƒ‘ใƒฉใ‚ฌใƒณใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใ‚‚ๆคœๆŸปใƒ‡ใƒผใ‚ฟไธŠใ‚‚ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ไผดใ†ๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใ€ใใ†ใงใฏใชใ„้žๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๅ‚็ฅž็ตŒ็ฏ€่…ซใงใฏใ€ไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใจๅ‰ฏไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ + NANDO:2200078 + Pheochromocytoma + ใ‹ใฃใ—ใ‚‡ใใ•ใ„ใผใ†ใ—ใ‚… ่ค่‰ฒ็ดฐ่ƒž่…ซ - + - ่ค่‰ฒ็ดฐ่ƒž่…ซ - - 1 - ่ƒธ่…บไธŠ็šฎ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใซ้ซ˜ๅบฆใฎ็•ฐๅž‹ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’่ƒธ่…บ่…ซใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใŒๆ˜Žใ‚‰ใ‹ใช็•ฐๅž‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’่ƒธ่…บ็™Œใจใ„ใ†ใ€‚ใพใŸใ€่ƒธ่…บ่…ซใฎไธญใซใ‚‚ๅ‘จๅ›ฒ็ต„็น”ใธๆตธๆฝคใ—้ ้š”่ปข็งปใ‚’ใใŸใ™ๅฏ่ƒฝๆ€งใฎใ‚ใ‚‹ใ‚‚ใฎใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200079 - + + 1 + ่ƒธ่…บไธŠ็šฎ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใซ้ซ˜ๅบฆใฎ็•ฐๅž‹ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’่ƒธ่…บ่…ซใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใŒๆ˜Žใ‚‰ใ‹ใช็•ฐๅž‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’่ƒธ่…บ็™Œใจใ„ใ†ใ€‚ใพใŸใ€่ƒธ่…บ่…ซใฎไธญใซใ‚‚ๅ‘จๅ›ฒ็ต„็น”ใธๆตธๆฝคใ—้ ้š”่ปข็งปใ‚’ใใŸใ™ๅฏ่ƒฝๆ€งใฎใ‚ใ‚‹ใ‚‚ใฎใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200079 + Malignant thymoma + ใ‚ใใ›ใ„ใใ‚‡ใ†ใ›ใ‚“ใ—ใ‚… ๆ‚ชๆ€ง่ƒธ่…บ่…ซ - + ๆ‚ชๆ€ง่ƒธ่…บ่…ซ - - 12 - ไนณๅนผๅ…ๆœŸใฎ่‚บใ‚„็จ€ใซใฏๅฃๅด่ƒธ่†œใซ็™บ็”Ÿใ™ใ‚‹่ƒŽๅ…ๆ€งๆ‚ชๆ€ง่…ซ็˜ใ€‚ - 2200080 - + + 12 + ไนณๅนผๅ…ๆœŸใฎ่‚บใ‚„็จ€ใซใฏๅฃๅด่ƒธ่†œใซ็™บ็”Ÿใ™ใ‚‹่ƒŽๅ…ๆ€งๆ‚ชๆ€ง่…ซ็˜ใ€‚ + NANDO:2200080 + Pleuropulmonaryblastoma + ใใ‚‡ใ†ใพใใฏใ„ใŒใ—ใ‚… ่ƒธ่†œ่‚บ่Šฝ่…ซ - + + Pleuropulmonary blastoma + ่ƒธ่†œ่‚บ่Šฝ่…ซ - - 11 - ๆฐ—็ฎกๆ”ฏใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ€็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใ ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚ - 2200081 - + + 11 + ๆฐ—็ฎกๆ”ฏใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ€็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใ ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚ + NANDO:2200081 + Bronchial tumour + ใใ‹ใ‚“ใ—ใ—ใ‚…ใ‚ˆใ† ๆฐ—็ฎกๆ”ฏ่…ซ็˜ - + + ๆฐ—็ฎกๆ”ฏ่…ซ็˜ - - 24 - ็™บ็”ŸๅˆๆœŸใฎ่†ต็ต„็น”ใซ้กžไผผใ—ใ€ๅฐๅ…ๆœŸใซๅฅฝ็™บใ™ใ‚‹ๅˆ†ๅŒ–ๆ–นๅ‘ไธๆ˜ŽใชไธŠ็šฎๆ€ง่†ต่…ซ็˜ใงใ‚ใ‚‹ใ€‚ - 2200082 - + + 24 + ็™บ็”ŸๅˆๆœŸใฎ่†ต็ต„็น”ใซ้กžไผผใ—ใ€ๅฐๅ…ๆœŸใซๅฅฝ็™บใ™ใ‚‹ๅˆ†ๅŒ–ๆ–นๅ‘ไธๆ˜ŽใชไธŠ็šฎๆ€ง่†ต่…ซ็˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200082 + Pancreatoblastoma + ใ™ใ„ใŒใ—ใ‚… ่†ต่Šฝ่…ซ - + ่†ต่Šฝ่…ซ - - 43 - ๅ‰่ฟฐใ•ใ‚ŒใŸไปฅๅค–ใฎๅ›บๅฝข่…ซ็˜ใ€‚ - 2200083 - + + 43 + ๅ‰่ฟฐใ•ใ‚ŒใŸไปฅๅค–ใฎๅ›บๅฝข่…ซ็˜ใ€‚ + NANDO:2200083 + + 27ใ‹ใ‚‰68ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ‘ใ„ใ—ใ‚…ใ‚ˆใ† 27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜ Other solid tumours - + 27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜ - - 68 - ็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใใฎใ†ใกๆœ€ใ‚‚ๆ‚ชๆ€งๅบฆใฏไฝŽใใ€WHOๅˆ†้กžใ‚ฐใƒฌใƒผใƒ‰โ… ใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๅขƒ็•Œๆ˜Ž็žญใงใ€ๅข—ๅคงใฏ็ทฉๅพใ€ใ—ใฐใ—ใฐๅšข่ƒžใ‚’ไผดใฃใฆใ€ๅฐๅ…ใ‚„่‹ฅๅนดๆˆไบบใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่…ซ็˜็ดฐ่ƒžใฏๅตๅ††ๅฝขใฎๆ ธใ‚’ๆœ‰ใ—ใฆ้•ทใไผธใณใ€ๆฏ›ใซไผผใŸๅค–่ฆณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200084 - + + 68 + ็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใใฎใ†ใกๆœ€ใ‚‚ๆ‚ชๆ€งๅบฆใฏไฝŽใใ€WHOๅˆ†้กžใ‚ฐใƒฌใƒผใƒ‰โ… ใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๅขƒ็•Œๆ˜Ž็žญใงใ€ๅข—ๅคงใฏ็ทฉๅพใ€ใ—ใฐใ—ใฐๅšข่ƒžใ‚’ไผดใฃใฆใ€ๅฐๅ…ใ‚„่‹ฅๅนดๆˆไบบใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่…ซ็˜็ดฐ่ƒžใฏๅตๅ††ๅฝขใฎๆ ธใ‚’ๆœ‰ใ—ใฆ้•ทใไผธใณใ€ๆฏ›ใซไผผใŸๅค–่ฆณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200084 + Pilocytic astrocytoma + ใ‚‚ใ†ใ‚ˆใ†ใ•ใ„ใผใ†ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚… ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ - + ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ - - 64 - ็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ใใฎใ†ใกใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏWHOๅˆ†้กžๆ‚ชๆ€งๅบฆโ…กใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏ่‹ฅๅนดๆˆไบบใซๅคšใใ€ๅข—ๅคงใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใฎใฉใฎ้ƒจๅˆ†ใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€ใƒ†ใƒณใƒˆไธŠใฎใ“ใจใŒๅคšใ„ใ€‚้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใ‚„่† ่Šฝ่…ซใจใ„ใฃใŸ้ซ˜ๆ‚ชๆ€งๅบฆใ‚ฐใƒชใ‚ชใƒผใƒžใซ่ปขๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200085 - + + 64 + ็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ใใฎใ†ใกใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏWHOๅˆ†้กžๆ‚ชๆ€งๅบฆโ…กใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏ่‹ฅๅนดๆˆไบบใซๅคšใใ€ๅข—ๅคงใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใฎใฉใฎ้ƒจๅˆ†ใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€ใƒ†ใƒณใƒˆไธŠใฎใ“ใจใŒๅคšใ„ใ€‚้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใ‚„่† ่Šฝ่…ซใจใ„ใฃใŸ้ซ˜ๆ‚ชๆ€งๅบฆใ‚ฐใƒชใ‚ชใƒผใƒžใซ่ปขๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200085 + Diffuse astrocytoma + ใณใพใ‚“ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚… ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ - + - ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ - - 63 - ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€้€€่กŒๅฝขๆˆๆ‰€่ฆ‹ใจๅข—ๆฎ–่ƒฝใฎไบข้€ฒใ‚’็คบใ™ๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€่„ณๅ†…ใซใณใพใ‚“ๆ€งใซๆตธๆฝคใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IIIใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚่† ่Šฝ่…ซใธใจ้€ฒๅฑ•ใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใ€ๆ ธใฎๅคšๅฝขๆˆใ€‚ใ‚ฏใƒญใƒžใƒใƒณ้‡ใ€ๆ ธ็ดฐ่ƒž่ณชๆฏ”ใชใฉใŒ้ซ˜ใใ€ๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅฃŠๆญปๅทฃใฏ่ชใ‚ใชใ„ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚ - 2200086 - + + 63 + ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€้€€่กŒๅฝขๆˆๆ‰€่ฆ‹ใจๅข—ๆฎ–่ƒฝใฎไบข้€ฒใ‚’็คบใ™ๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€่„ณๅ†…ใซใณใพใ‚“ๆ€งใซๆตธๆฝคใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IIIใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚่† ่Šฝ่…ซใธใจ้€ฒๅฑ•ใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใ€ๆ ธใฎๅคšๅฝขๆˆใ€‚ใ‚ฏใƒญใƒžใƒใƒณ้‡ใ€ๆ ธ็ดฐ่ƒž่ณชๆฏ”ใชใฉใŒ้ซ˜ใใ€ๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅฃŠๆญปๅทฃใฏ่ชใ‚ใชใ„ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚ + NANDO:2200086 + Anaplastic astrocytoma + ใŸใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚… ้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ - + ้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ - - 52 - ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€่† ่Šฝ่…ซใฏ่‘—ๆ˜Žใช้€€ๅฝขๆˆใจ้ซ˜ใ„ๅข—ๆฎ–ๆดปๆ€งใ‚’็คบใ™่† ่…ซใงใ€่„ณๅฎŸ่ณชๅ†…ใซๆตธๆฝคๆ€ง็ ดๅฃŠๆ€งใซๅข—ๆฎ–ใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IVใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใŒ้ซ˜ใใ€ๆง‹ๆˆ็ดฐ่ƒžใฏๅคš็จฎๅคšๆง˜ใฎๅฝขๆ…‹ใ‚’็คบใ™ใ€‚ๆ ธๅˆ†่ฃ‚ๅƒใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใ‚‹ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚ - 2200087 - + + 52 + ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€่† ่Šฝ่…ซใฏ่‘—ๆ˜Žใช้€€ๅฝขๆˆใจ้ซ˜ใ„ๅข—ๆฎ–ๆดปๆ€งใ‚’็คบใ™่† ่…ซใงใ€่„ณๅฎŸ่ณชๅ†…ใซๆตธๆฝคๆ€ง็ ดๅฃŠๆ€งใซๅข—ๆฎ–ใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IVใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใŒ้ซ˜ใใ€ๆง‹ๆˆ็ดฐ่ƒžใฏๅคš็จฎๅคšๆง˜ใฎๅฝขๆ…‹ใ‚’็คบใ™ใ€‚ๆ ธๅˆ†่ฃ‚ๅƒใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใ‚‹ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚ + NANDO:2200087 + Glioblastoma + ใ“ใ†ใŒใ—ใ‚… ่† ่Šฝ่…ซ - + ่† ่Šฝ่…ซ - - 53 - ไธŠ่กฃ่…ซใฏ่„ณๅฎคใ€่„Š้ซ„ไธญๅฟƒ้ƒจใฎ่กจ้ขใ‚’่ฆ†ใฃใฆใ„ใ‚‹ไธŠ่กฃ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใจใƒ†ใƒณใƒˆไธ‹ใงใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ไธŠ่กฃ่…ซใงใ‚ใฃใฆใ‚‚ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏ็•ฐใชใ‚‹ใ€‚็—…็†ๆ‰€่ฆ‹ใงใฏ้กžๅ††ๅฝขๆ ธใจๅขƒ็•Œใฎไธๆ˜Ž็žญใชๅผฑๅฅฝ้…ธๆ€งใฎ็ดฐ่ƒž่ณชใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่ƒžใŒใณใพใ‚“ๆ€งใซๅข—ๆฎ–ใ—ใ€่ก€็ฎกๅ‘จๅ›ฒๆ€งๅฝใƒญใ‚ผใƒƒใƒˆใ‚„ไธŠ่กฃใƒญใ‚ผใƒƒใƒˆใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใŒ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚้€€ๅฝขๆˆๆ€งใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏ้€€ๅฝขๆˆๆ€งไธŠ่กฃ่…ซใงใ‚ใ‚Šใ€ไธŠ่กฃ่…ซใฏWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใงใ‚ใ‚‹ใฎใซๅฏพใ—ใ€ใ‚ฐใƒฌใƒผใƒ‰ IIIใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚ - 2200088 - + + 53 + ไธŠ่กฃ่…ซใฏ่„ณๅฎคใ€่„Š้ซ„ไธญๅฟƒ้ƒจใฎ่กจ้ขใ‚’่ฆ†ใฃใฆใ„ใ‚‹ไธŠ่กฃ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใจใƒ†ใƒณใƒˆไธ‹ใงใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ไธŠ่กฃ่…ซใงใ‚ใฃใฆใ‚‚ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏ็•ฐใชใ‚‹ใ€‚็—…็†ๆ‰€่ฆ‹ใงใฏ้กžๅ††ๅฝขๆ ธใจๅขƒ็•Œใฎไธๆ˜Ž็žญใชๅผฑๅฅฝ้…ธๆ€งใฎ็ดฐ่ƒž่ณชใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่ƒžใŒใณใพใ‚“ๆ€งใซๅข—ๆฎ–ใ—ใ€่ก€็ฎกๅ‘จๅ›ฒๆ€งๅฝใƒญใ‚ผใƒƒใƒˆใ‚„ไธŠ่กฃใƒญใ‚ผใƒƒใƒˆใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใŒ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚้€€ๅฝขๆˆๆ€งใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏ้€€ๅฝขๆˆๆ€งไธŠ่กฃ่…ซใงใ‚ใ‚Šใ€ไธŠ่กฃ่…ซใฏWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใงใ‚ใ‚‹ใฎใซๅฏพใ—ใ€ใ‚ฐใƒฌใƒผใƒ‰ IIIใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚ + NANDO:2200088 + Ependymoma + ใ˜ใ‚‡ใ†ใ„ใ—ใ‚… ไธŠ่กฃ่…ซ - - + - ไธŠ่กฃ่…ซ - - 65 - ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไน็ช่ตท่† ็ดฐ่ƒž็”ฑๆฅใฎไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ€ๅฐๅ…ใฎ่„ณ่…ซ็˜ใงใฏๆฅตใ‚ใฆใพใ‚Œใชใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€ไน็ช่ตท่† ็ดฐ่ƒžใซ้กžไผผใ—ใŸไธญๅฟƒๆ€งใฎ้กžๅ††ๅฝขๆ ธใจๆทกๆ˜Žใช็ดฐ่ƒž่ณชใ‚’ๆŒใกใ€็ดฐ่ƒžใฎ่ผช้ƒญใŒๆ˜Ž็ขบใช่…ซ็˜็ดฐ่ƒžใŒๅ‡ไธ€ใซๅˆ†ๅธƒใ—ใ€็ดฐ่ƒžๅฏ†ๅบฆใฏใ‚„ใ‚„้ซ˜ใ„ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ•ใ‚‰ใซๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ไน็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰II๏ผ‰ใจไน้€€ๅฝขๆˆๆ€ง็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰III๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200089 - + + 65 + ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไน็ช่ตท่† ็ดฐ่ƒž็”ฑๆฅใฎไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ€ๅฐๅ…ใฎ่„ณ่…ซ็˜ใงใฏๆฅตใ‚ใฆใพใ‚Œใชใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€ไน็ช่ตท่† ็ดฐ่ƒžใซ้กžไผผใ—ใŸไธญๅฟƒๆ€งใฎ้กžๅ††ๅฝขๆ ธใจๆทกๆ˜Žใช็ดฐ่ƒž่ณชใ‚’ๆŒใกใ€็ดฐ่ƒžใฎ่ผช้ƒญใŒๆ˜Ž็ขบใช่…ซ็˜็ดฐ่ƒžใŒๅ‡ไธ€ใซๅˆ†ๅธƒใ—ใ€็ดฐ่ƒžๅฏ†ๅบฆใฏใ‚„ใ‚„้ซ˜ใ„ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ•ใ‚‰ใซๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ไน็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰II๏ผ‰ใจไน้€€ๅฝขๆˆๆ€ง็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰III๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200089 + Oligodendroglioma + ใผใ†ใจใฃใใ—ใ‚“ใ‘ใ„ใ“ใ†ใ—ใ‚… ไน็ช่ตท็ฅž็ตŒ่† ่…ซ - + ไน็ช่ตท่† ่…ซ - ไน็ช่ตท็ฅž็ตŒ่† ่…ซ - - 58 - ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ่“‹็ชฉใซ็™บ็”Ÿใ—ๆœชๅˆ†ๅŒ–ใชๅฐๅž‹็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹ใŒใ€่ตทๆบ็ดฐ่ƒžใซใฏ่ซธ่ชฌใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใใ€ๅˆ็™บๆ™‚ๆ‚ฃ่€…ใฎ15โˆ’40๏ผ…ใซ้ซ„่…”ๅ†…ๆ’ญ็จฎใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€WHOๅˆ†้กžใซใ‚ˆใ‚‹ใจใ€ๆฌกใฎ5ใคใฎ็ต„็น”ๅž‹ใŒใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„้ซ„่Šฝ่…ซใ€้€€ๅฝขๆˆๆ€ง้ซ„่Šฝ่…ซใ€ๅคง็ดฐ่ƒžๅž‹้ซ„่Šฝ่…ซใ€็ทš็ถญๅฝขๆˆๆ€ง๏ผ็ต็ฏ€ๆ€ง้ซ„่Šฝ่…ซใ€ๅบƒ็ฏ„ใชๅฐ็ต็ฏ€ๅฝขๆˆใ‚’ไผดใ†้ซ„่Šฝ่…ซใ€‚ - 2200090 - + + 58 + ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ่“‹็ชฉใซ็™บ็”Ÿใ—ๆœชๅˆ†ๅŒ–ใชๅฐๅž‹็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹ใŒใ€่ตทๆบ็ดฐ่ƒžใซใฏ่ซธ่ชฌใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใใ€ๅˆ็™บๆ™‚ๆ‚ฃ่€…ใฎ15โˆ’40๏ผ…ใซ้ซ„่…”ๅ†…ๆ’ญ็จฎใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€WHOๅˆ†้กžใซใ‚ˆใ‚‹ใจใ€ๆฌกใฎ5ใคใฎ็ต„็น”ๅž‹ใŒใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„้ซ„่Šฝ่…ซใ€้€€ๅฝขๆˆๆ€ง้ซ„่Šฝ่…ซใ€ๅคง็ดฐ่ƒžๅž‹้ซ„่Šฝ่…ซใ€็ทš็ถญๅฝขๆˆๆ€ง๏ผ็ต็ฏ€ๆ€ง้ซ„่Šฝ่…ซใ€ๅบƒ็ฏ„ใชๅฐ็ต็ฏ€ๅฝขๆˆใ‚’ไผดใ†้ซ„่Šฝ่…ซใ€‚ + NANDO:2200090 + Medulloblastoma + ใšใ„ใŒใ—ใ‚… ้ซ„่Šฝ่…ซ - + ้ซ„่Šฝ่…ซ - - 60 - ใƒˆใƒซใ‚ณ้žไธŠ้ƒจใซ็™บ็”Ÿใ—ๅšข่ƒžๅฝขๆˆใ‚’ไผดใ†ไธŠ็šฎๆ€งใฎ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใƒฉใƒˆใ‚ฑๅšข่ƒž็”ฑๆฅใจใ•ใ‚Œใ€็ต„็น”ๅญฆ็š„ใซใ‚จใƒŠใƒกใƒซไธŠ็šฎ่…ซๅž‹ใจไนณ้ ญๅž‹ใซๅˆ†้กžใงใใ€ไนณ้ ญๅž‹ใฏๅฐๅ…ใซใฏๅฐ‘ใชใ„ใ€‚ - 2200091 - + + 60 + ใƒˆใƒซใ‚ณ้žไธŠ้ƒจใซ็™บ็”Ÿใ—ๅšข่ƒžๅฝขๆˆใ‚’ไผดใ†ไธŠ็šฎๆ€งใฎ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใƒฉใƒˆใ‚ฑๅšข่ƒž็”ฑๆฅใจใ•ใ‚Œใ€็ต„็น”ๅญฆ็š„ใซใ‚จใƒŠใƒกใƒซไธŠ็šฎ่…ซๅž‹ใจไนณ้ ญๅž‹ใซๅˆ†้กžใงใใ€ไนณ้ ญๅž‹ใฏๅฐๅ…ใซใฏๅฐ‘ใชใ„ใ€‚ + NANDO:2200091 + Craniopharyngioma + ใšใŒใ„ใ„ใ‚“ใจใ†ใ—ใ‚… ้ ญ่“‹ๅ’ฝ้ ญ่…ซ - + ้ ญ่“‹ๅ’ฝ้ ญ่…ซ - - 54 - ๆพๆžœไฝ“็ดฐ่ƒžใซ้กžไผผใ—ใŸ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€ๆพๆžœไฝ“็ดฐ่ƒžใƒญใ‚ผใƒƒใƒˆใ‚’ไผดใ†ใ‚‚ใฎใจๅคงๅฐใฎ็ฅž็ตŒ็ดฐ่ƒžใŒๆททๅœจใ™ใ‚‹ๅคšๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆพๆžœไฝ“ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๆœช็†Ÿใชๆ‚ชๆ€งใฎ่…ซ็˜ใฏๆพๆžœไฝ“่Šฝ่…ซใงใ€ๅฐๅž‹ใฎๆœชๅˆ†ๅŒ–ใช็ดฐ่ƒžใฎๅ……ๅฎŸๆ€งๅข—ๆฎ–ใ‹ใ‚‰ใชใ‚Šใ€ๅ‘จๅ›ฒใธใฎๆตธๆฝคใ€้ซ„ๆถฒๆ’ญ็จฎใ‚’ใใŸใ—ใ‚„ใ™ใใ€WHOใ‚ฐใƒฌใƒผใƒ‰IVใจๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚ - 2200092 - + + 54 + ๆพๆžœไฝ“็ดฐ่ƒžใซ้กžไผผใ—ใŸ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€ๆพๆžœไฝ“็ดฐ่ƒžใƒญใ‚ผใƒƒใƒˆใ‚’ไผดใ†ใ‚‚ใฎใจๅคงๅฐใฎ็ฅž็ตŒ็ดฐ่ƒžใŒๆททๅœจใ™ใ‚‹ๅคšๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆพๆžœไฝ“ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๆœช็†Ÿใชๆ‚ชๆ€งใฎ่…ซ็˜ใฏๆพๆžœไฝ“่Šฝ่…ซใงใ€ๅฐๅž‹ใฎๆœชๅˆ†ๅŒ–ใช็ดฐ่ƒžใฎๅ……ๅฎŸๆ€งๅข—ๆฎ–ใ‹ใ‚‰ใชใ‚Šใ€ๅ‘จๅ›ฒใธใฎๆตธๆฝคใ€้ซ„ๆถฒๆ’ญ็จฎใ‚’ใใŸใ—ใ‚„ใ™ใใ€WHOใ‚ฐใƒฌใƒผใƒ‰IVใจๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚ + NANDO:2200092 + Pineocytoma + ใ—ใ‚‡ใ†ใ‹ใŸใ„ใ—ใ‚… ๆพๆžœไฝ“่…ซ - + ๆพๆžœไฝ“่…ซ - - 67 - ่„ˆ็ตกๅขไธŠ็šฎใซ้กžไผผใ—ใŸ็ดฐ่ƒžใŒไนณ้ ญ็Šถๆง‹้€ ใ‚’ไฝœใ‚‹่„ณๅฎคๅ†…่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ˆ็ตกๅขไนณ้ ญ่…ซใฏ็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใงWHO ใ‚ฐใƒฌใƒผใƒ‰Iใงใ‚ใ‚‹ใ€‚็•ฐๅž‹่„ˆ็ตกๅขไนณ้ ญ่…ซใฏๆ ธๅˆ†่ฃ‚ๆดปๆ€งใŒไบข้€ฒใ—ใŸ่„ˆ็ตกๅข่…ซ็˜ใงใ‚ใ‚ŠWHOใ‚ฐใƒฌใƒผใƒ‰IIใงใ€่„ˆ็ตกๅข็™Œใฏๆ˜Žใ‚‰ใ‹ใช้€€ๅฝขๆˆๆ‰€่ฆ‹ใ‚’็คบใ™่„ˆ็ตกๅข่…ซ็˜ใงWHOใ‚ฐใƒฌใƒผใƒ‰IIIใจๆ‚ชๆ€งๅบฆใŒๅข—ใ™ใ€‚ - 2200093 - + + 67 + ่„ˆ็ตกๅขไธŠ็šฎใซ้กžไผผใ—ใŸ็ดฐ่ƒžใŒไนณ้ ญ็Šถๆง‹้€ ใ‚’ไฝœใ‚‹่„ณๅฎคๅ†…่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ˆ็ตกๅขไนณ้ ญ่…ซใฏ็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใงWHO ใ‚ฐใƒฌใƒผใƒ‰Iใงใ‚ใ‚‹ใ€‚็•ฐๅž‹่„ˆ็ตกๅขไนณ้ ญ่…ซใฏๆ ธๅˆ†่ฃ‚ๆดปๆ€งใŒไบข้€ฒใ—ใŸ่„ˆ็ตกๅข่…ซ็˜ใงใ‚ใ‚ŠWHOใ‚ฐใƒฌใƒผใƒ‰IIใงใ€่„ˆ็ตกๅข็™Œใฏๆ˜Žใ‚‰ใ‹ใช้€€ๅฝขๆˆๆ‰€่ฆ‹ใ‚’็คบใ™่„ˆ็ตกๅข่…ซ็˜ใงWHOใ‚ฐใƒฌใƒผใƒ‰IIIใจๆ‚ชๆ€งๅบฆใŒๅข—ใ™ใ€‚ + NANDO:2200093 + Choroid plexus papilloma + ใฟใ‚ƒใใ‚‰ใใใ†ใซใ‚…ใ†ใจใ†ใ—ใ‚… ่„ˆ็ตกๅขไนณ้ ญ่…ซ - + ่„ˆ็ตกๅขไนณ้ ญ่…ซ - - 59 - ้ซ„่†œ่ขซ็ดฐ่ƒž๏ผˆใใ‚‚่†œ็ดฐ่ƒž๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใช่…ซ็˜ใงใ€็กฌ่†œใฎๅ†…้ขใซๅ›บ็€ใ—้ซ„ๅค–ๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ€‚ๆธฆๅทปใๆง‹้€ ใ‚„็Ÿณ็ฐๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ๅคšๆง˜ใช็ต„็น”ไบœๅž‹ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใŒใ€็•ฐๅฝขๆ€งใ‚’็คบใ™ไพ‹๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใ€III๏ผ‰ใงใฏๅ†็™บใ—ใ‚„ใ™ใ„ใ€‚ - 2200094 - + + 59 + ้ซ„่†œ่ขซ็ดฐ่ƒž๏ผˆใใ‚‚่†œ็ดฐ่ƒž๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใช่…ซ็˜ใงใ€็กฌ่†œใฎๅ†…้ขใซๅ›บ็€ใ—้ซ„ๅค–ๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ€‚ๆธฆๅทปใๆง‹้€ ใ‚„็Ÿณ็ฐๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ๅคšๆง˜ใช็ต„็น”ไบœๅž‹ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใŒใ€็•ฐๅฝขๆ€งใ‚’็คบใ™ไพ‹๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใ€III๏ผ‰ใงใฏๅ†็™บใ—ใ‚„ใ™ใ„ใ€‚ + NANDO:2200094 + Meningioma + ใšใ„ใพใใ—ใ‚… ้ซ„่†œ่…ซ - + ้ซ„่†œ่…ซ - - 50 - ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎๅฎŸ่ณช็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่‰ฏๆ€ง่…ซ็˜๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ€็”ฃ็”Ÿใƒ›ใƒซใƒขใƒณใฎ็จฎ้กžใซใ‚ˆใฃใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็›ดๅพ„10mmใ‚ˆใ‚Šๅคงใใ„ใ‚‚ใฎใ‚’ๅทจๅคง่…ซ็˜ใจใ—ใ€10mmไปฅไธ‹ใงใƒˆใƒซใ‚ณ้žๅ†…ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‚’ๅพฎๅฐ่…บ่…ซใจใ™ใ‚‹ใ€‚ - 2200095 - + + 50 + ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎๅฎŸ่ณช็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่‰ฏๆ€ง่…ซ็˜๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ€็”ฃ็”Ÿใƒ›ใƒซใƒขใƒณใฎ็จฎ้กžใซใ‚ˆใฃใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็›ดๅพ„10mmใ‚ˆใ‚Šๅคงใใ„ใ‚‚ใฎใ‚’ๅทจๅคง่…ซ็˜ใจใ—ใ€10mmไปฅไธ‹ใงใƒˆใƒซใ‚ณ้žๅ†…ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‚’ๅพฎๅฐ่…บ่…ซใจใ™ใ‚‹ใ€‚ + NANDO:2200095 + Pituitary adenoma + ใ‹ใ™ใ„ใŸใ„ใ›ใ‚“ใ—ใ‚… ไธ‹ๅž‚ไฝ“่…บ่…ซ - + ไธ‹ๅž‚ไฝ“่…บ่…ซ - - 56 - ่…ซ็˜ๆ€งๆ ผใ‚’ๆŒใคๅคงๅž‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ - 2200096 - + + 56 + ่…ซ็˜ๆ€งๆ ผใ‚’ๆŒใคๅคงๅž‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ + NANDO:2200096 + Ganglioglioma + ใ—ใ‚“ใ‘ใ„ใ›ใคใ“ใ†ใ—ใ‚… ็ฅž็ตŒ็ฏ€่† ่…ซ - + ็ฅž็ตŒ็ฏ€่† ่…ซ - - 57 - ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ˆใๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใŸๅคงๅž‹ใฎ่…ซ็˜ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚Šใ€ๅพใ€…ใซ็™บ่‚ฒใ™ใ‚‹่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ - 2200097 - + + 57 + ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ˆใๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใŸๅคงๅž‹ใฎ่…ซ็˜ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚Šใ€ๅพใ€…ใซ็™บ่‚ฒใ™ใ‚‹่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ + NANDO:2200097 + Gangliocytoma + ใ—ใ‚“ใ‘ใ„ใ›ใคใ—ใ‚… ็ฅž็ตŒ็ฏ€่…ซ - + ็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซ ็ฅž็ตŒ็ฏ€่…ซ - - 62 - ่ƒŽๅ…ๆœŸใฎ่„Š็ดขใซ็”ฑๆฅใ™ใ‚‹่…ซ็˜ใงใ€็ฒ˜ๆถฒ็ŠถๅŸบ่ณชใŒ่ฑŠๅฏŒใง็ฉบ่ƒž็Šถ็ดฐ่ƒžใŒ็ญ–็Šถ้…ๅˆ—ใ‚’ๅ‘ˆใ—ใ€่…ซ็˜ๅ‘จๅ›ฒใฎๅฑ€ๆ‰€ใ‚’็ ดๅฃŠๆ€งใซ็™บ่‚ฒใ™ใ‚‹็‰นๅพดใ‚’ๆŒใคใ€‚ - 2200098 - - Gangliocytoma + + 62 + ่ƒŽๅ…ๆœŸใฎ่„Š็ดขใซ็”ฑๆฅใ™ใ‚‹่…ซ็˜ใงใ€็ฒ˜ๆถฒ็ŠถๅŸบ่ณชใŒ่ฑŠๅฏŒใง็ฉบ่ƒž็Šถ็ดฐ่ƒžใŒ็ญ–็Šถ้…ๅˆ—ใ‚’ๅ‘ˆใ—ใ€่…ซ็˜ๅ‘จๅ›ฒใฎๅฑ€ๆ‰€ใ‚’็ ดๅฃŠๆ€งใซ็™บ่‚ฒใ™ใ‚‹็‰นๅพดใ‚’ๆŒใคใ€‚ + NANDO:2200098 + + Chordoma + ใ›ใใ•ใใ—ใ‚… ่„Š็ดข่…ซ - - + + ่„Š็ดข่…ซ - - 36 - Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200099 - - primitive neuroectodermal tumour - ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ - - - ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ - - - 36 - 2200100 - + + 66 + ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใซ็™บ็”Ÿใ—ใ€ๆœช็†Ÿใช็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹็ต„็น”ๅญฆ็š„ใซๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใ้žๅธธใซๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚ + NANDO:2200099 + Primitive neuroectodermal tumour of the central nervous system - ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ - - - ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ - - - 49 - ้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(AT/RT)ใฏไธญๆžข็ฅž็ตŒ็ณปใซ็™บ็”Ÿใ™ใ‚‹ๆฅตใ‚ใฆๆ‚ชๆ€งๅบฆใฎ้ซ˜ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚1987ๅนดใซไธญๆžข็ฅž็ตŒ็ณปใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ—ใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ€2000ๅนดใ‹ใ‚‰ๆญฃๅผใซWHOๅˆ†้กžใซๅ–ใ‚Šๅ…ฅใ‚Œใ‚‰ใ‚ŒใŸๆ–ฐใ—ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚WHOๅˆ†้กžใงใฏGrade IVใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅพ“ๆฅใฏ้ซ„่Šฝ่…ซใ‚„ไธŠ่กฃ่…ซใ€่„ˆ็ตกๅข็™Œใชใฉใจใ—ใฆ่จบๆ–ญใƒปๆฒป็™‚ใ•ใ‚Œใฆใ„ใŸใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…็–ซ็ต„็น”ๆŸ“่‰ฒใง่…ซ็˜็ดฐ่ƒžใŒINI-1้™ฐๆ€งใจใชใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 2200101 - + ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฎใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ + ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆไธญๆžขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ + + + Central nervous system primitive neuroectodermal tumor + ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ + + ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆไธญๆžขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ + + + NANDO:2200100 + Primitive neuroectodermal tumour of the central nervous system + obsolete ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ + ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ’ใ‚“ใ—ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ† + + true + obsolete ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜ + + + 49 + ้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(AT/RT)ใฏไธญๆžข็ฅž็ตŒ็ณปใซ็™บ็”Ÿใ™ใ‚‹ๆฅตใ‚ใฆๆ‚ชๆ€งๅบฆใฎ้ซ˜ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚1987ๅนดใซไธญๆžข็ฅž็ตŒ็ณปใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ—ใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ€2000ๅนดใ‹ใ‚‰ๆญฃๅผใซWHOๅˆ†้กžใซๅ–ใ‚Šๅ…ฅใ‚Œใ‚‰ใ‚ŒใŸๆ–ฐใ—ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚WHOๅˆ†้กžใงใฏGrade IVใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅพ“ๆฅใฏ้ซ„่Šฝ่…ซใ‚„ไธŠ่กฃ่…ซใ€่„ˆ็ตกๅข็™Œใชใฉใจใ—ใฆ่จบๆ–ญใƒปๆฒป็™‚ใ•ใ‚Œใฆใ„ใŸใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…็–ซ็ต„็น”ๆŸ“่‰ฒใง่…ซ็˜็ดฐ่ƒžใŒINI-1้™ฐๆ€งใจใชใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:2200101 + Atypical teratoid, rhabdoid tumour + ใ„ใ‘ใ„ใใ‘ใ„ใ—ใ‚…ใ‚ˆใ†๏ผใ‚‰ใถใฉใ„ใฉใ—ใ‚…ใ‚ˆใ† ็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ - + AT/RT ้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ - ็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ - - 48 - ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜ใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹ๅ†…ใ‚„่„ŠๆคŽ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚ - 2200102 - + + 48 + ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜ใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹ๅ†…ใ‚„่„ŠๆคŽ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200102 + Malignant neurinoma + ใ‚ใใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใ—ใ‚… ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ - + ๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜ + ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ - - 55 - ๅˆ†ๅŒ–ใ—ใŸใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ—ใฆใฏ้ ญ่“‹ๅ†…ใ‚„่„ŠๆŸฑ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ๆœซๆขข็ฅž็ตŒใซ้€ฃ็ถšใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใง่ขซ่†œใซ่ฆ†ใ‚ใ‚ŒใŸ่…ซ็˜คใ‚’ๅฝขๆˆใ—ใ€ๆ ธใฎๆฃš็Šถ้…ๅˆ—ใ‚„็ดฐ่ƒžใฎ็ฒ—ๅฏ†้…ๅˆ—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 2200103 - + + 55 + ๅˆ†ๅŒ–ใ—ใŸใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ—ใฆใฏ้ ญ่“‹ๅ†…ใ‚„่„ŠๆŸฑ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ๆœซๆขข็ฅž็ตŒใซ้€ฃ็ถšใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใง่ขซ่†œใซ่ฆ†ใ‚ใ‚ŒใŸ่…ซ็˜คใ‚’ๅฝขๆˆใ—ใ€ๆ ธใฎๆฃš็Šถ้…ๅˆ—ใ‚„็ดฐ่ƒžใฎ็ฒ—ๅฏ†้…ๅˆ—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:2200103 + Neurinoma + ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใ—ใ‚… ็ฅž็ตŒ้ž˜่…ซ - + - ็ฅž็ตŒ้ž˜่…ซ - - 51 - ๅฅ‡ๅฝข่…ซใฏใ€้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜๏ผˆgerm cell tumor๏ผ‰ใฎ๏ผ‘็จฎใงใ‚ใ‚Šใ€2007ๅนดใฎWHO็—…็†ๅˆ†้กžใงใฏใ€ใ•ใ‚‰ใซโ‘  ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ๏ผˆmature teratoma๏ผ‰โ‘ก ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ(immature teratoma)โ‘ข ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ๏ผˆteratoma with malignant transformation๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‰่ƒš่‘‰ใฎๆˆๅˆ†ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใžใ‚Œใฎๆˆๅˆ†ใŒใ™ในใฆๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๅ…จไฝ“ใพใŸใฏไธ€้ƒจใŒๆœช็†Ÿใชๅฝขๆ…‹ใ‚’็คบใ™ใ‚‚ใฎใฏๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๆˆ็†Ÿๅฅ‡ๅฝข่…ซใฎไธ€้ƒจใŒๆ‚ชๆ€งใฎ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใฏๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่…ซ็˜ใฏใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅฅ‡ๅฝข่…ซไปฅๅค–ใฎไป–ใฎ่ƒš็ดฐ่ƒž่…ซ็˜ใจๆททๅœจใ—ใ€ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่„ณใƒป่„Š้ซ„ไปฅๅค–ใฎๅฅ‡ๅฝข่…ซใจๅŒๆง˜ใฎ็—…็†็ต„็น”ๆ‰€่ฆ‹ใ‚’ใจใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใชใฉใฎ็›ธ้•ใ‹ใ‚‰ใ€่จบๆ–ญใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚Šใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ไนณๅนผๅ…ใงใฎ็™บ็—‡ใฏใ€ๅคšใใฏๅ…ˆๅคฉๆ€ง่„ณ่…ซ็˜ใงใ‚ใ‚Šๆˆ็†Ÿๅฅ‡ๅฝข่…ซใŒๅคšใ„ใ€‚ๅนด้•ทๅ…ใ€ๆˆไบบใงใฏใปใจใ‚“ใฉใŒๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใฎไธ€้ƒจใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200104 - + + 51 + ๅฅ‡ๅฝข่…ซใฏใ€้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜๏ผˆgerm cell tumor๏ผ‰ใฎ๏ผ‘็จฎใงใ‚ใ‚Šใ€2007ๅนดใฎWHO็—…็†ๅˆ†้กžใงใฏใ€ใ•ใ‚‰ใซโ‘  ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ๏ผˆmature teratoma๏ผ‰โ‘ก ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ(immature teratoma)โ‘ข ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ๏ผˆteratoma with malignant transformation๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‰่ƒš่‘‰ใฎๆˆๅˆ†ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใžใ‚Œใฎๆˆๅˆ†ใŒใ™ในใฆๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๅ…จไฝ“ใพใŸใฏไธ€้ƒจใŒๆœช็†Ÿใชๅฝขๆ…‹ใ‚’็คบใ™ใ‚‚ใฎใฏๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๆˆ็†Ÿๅฅ‡ๅฝข่…ซใฎไธ€้ƒจใŒๆ‚ชๆ€งใฎ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใฏๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่…ซ็˜ใฏใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅฅ‡ๅฝข่…ซไปฅๅค–ใฎไป–ใฎ่ƒš็ดฐ่ƒž่…ซ็˜ใจๆททๅœจใ—ใ€ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่„ณใƒป่„Š้ซ„ไปฅๅค–ใฎๅฅ‡ๅฝข่…ซใจๅŒๆง˜ใฎ็—…็†็ต„็น”ๆ‰€่ฆ‹ใ‚’ใจใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใชใฉใฎ็›ธ้•ใ‹ใ‚‰ใ€่จบๆ–ญใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚Šใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ไนณๅนผๅ…ใงใฎ็™บ็—‡ใฏใ€ๅคšใใฏๅ…ˆๅคฉๆ€ง่„ณ่…ซ็˜ใงใ‚ใ‚Šๆˆ็†Ÿๅฅ‡ๅฝข่…ซใŒๅคšใ„ใ€‚ๅนด้•ทๅ…ใ€ๆˆไบบใงใฏใปใจใ‚“ใฉใŒๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใฎไธ€้ƒจใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200104 + Teratoma of the central nervous system + ใใ‘ใ„ใ—ใ‚… ๅฅ‡ๅฝข่…ซ - + ๅฅ‡ๅฝข่…ซ - - 51 - 2200105 - + + 51 + NANDO:2200105 + mature teratoma + ใ›ใ„ใ˜ใ‚…ใใใ‘ใ„ใ—ใ‚… ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ - + - - ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ - - 51 - 2200106 - + + 51 + NANDO:2200106 + immature teratoma + ใฟใ›ใ„ใ˜ใ‚…ใใใ‘ใ„ใ—ใ‚… ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ - - - - + ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ - - 51 - 2200107 - + + 51 + NANDO:2200107 + teratoma with malignant transformation + ใ‚ใใ›ใ„ใฆใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใใ‘ใ„ใ—ใ‚… ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ - + ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ - - 61 - ้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜(germ cell tumors, GCT)ใฏใ€ๆพๆžœไฝ“้ƒจใ‚„้žไธŠ้ƒจใซ็™บ็—‡ใ™ใ‚‹ๆง˜ใ€…ใช่…ซ็˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ๅคšๆง˜ใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ใฏ2007ๅนดใฎWHOใฎ็—…็†ๅญฆ็š„ๅˆ†้กžใงใฏๆฌกใฎ6ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚โ‘  ใ‚ธใƒฃใƒผใƒŸใƒŽใƒผใƒž๏ผˆ่ƒš่…ซ๏ผ‰(germinoma)โ‘ก ่ƒŽๅ…ๆ€ง็™Œ(embryonal carcinoma)โ‘ข ๅต้ป„ๅšข่…ซ็˜(yolk sac tumor) โ‘ฃ ็ตจๆฏ›็™Œ(choriocarcinoma)โ‘ค ๅฅ‡ๅฝข่…ซ(teratoma)๏ผˆๆˆ็†Ÿๅฅ‡ๅฝข่…ซmature teratoma/ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซimmature teratoma/ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซteratoma with malignant transforamtion๏ผ‰โ‘ฅ ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜(mixed germ cell tumors)ๆททๅˆๆ€ง่…ซ็˜ใฏใ€่…ซ็˜ๅ†…ใซไธŠ่จ˜ใฎ โ‘  ใ€œ โ‘ค ใฎ่…ซ็˜ใŒ2็จฎ้กžไปฅไธŠๆททๅœจใ—ใฆ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅค–ใซใ‚‚็—…็†็ต„็น”ใฎ้กžไผผใ—ใŸ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใฎ้•ใ„ใ‹ใ‚‰้ ญ่“‹ๅค–ใฎ่…ซ็˜ใจใฏ็•ฐใชใฃใŸ่จบๆ–ญใƒปๆฒป็™‚ๆ–นๆณ•ใŒใจใ‚‰ใ‚Œใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ - 2200108 - + + 61 + ้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜(germ cell tumors, GCT)ใฏใ€ๆพๆžœไฝ“้ƒจใ‚„้žไธŠ้ƒจใซ็™บ็—‡ใ™ใ‚‹ๆง˜ใ€…ใช่…ซ็˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ๅคšๆง˜ใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ใฏ2007ๅนดใฎWHOใฎ็—…็†ๅญฆ็š„ๅˆ†้กžใงใฏๆฌกใฎ6ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚โ‘  ใ‚ธใƒฃใƒผใƒŸใƒŽใƒผใƒž๏ผˆ่ƒš่…ซ๏ผ‰(germinoma)โ‘ก ่ƒŽๅ…ๆ€ง็™Œ(embryonal carcinoma)โ‘ข ๅต้ป„ๅšข่…ซ็˜(yolk sac tumor) โ‘ฃ ็ตจๆฏ›็™Œ(choriocarcinoma)โ‘ค ๅฅ‡ๅฝข่…ซ(teratoma)๏ผˆๆˆ็†Ÿๅฅ‡ๅฝข่…ซmature teratoma/ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซimmature teratoma/ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซteratoma with malignant transforamtion๏ผ‰โ‘ฅ ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜(mixed germ cell tumors)ๆททๅˆๆ€ง่…ซ็˜ใฏใ€่…ซ็˜ๅ†…ใซไธŠ่จ˜ใฎ โ‘  ใ€œ โ‘ค ใฎ่…ซ็˜ใŒ2็จฎ้กžไปฅไธŠๆททๅœจใ—ใฆ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅค–ใซใ‚‚็—…็†็ต„็น”ใฎ้กžไผผใ—ใŸ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใฎ้•ใ„ใ‹ใ‚‰้ ญ่“‹ๅค–ใฎ่…ซ็˜ใจใฏ็•ฐใชใฃใŸ่จบๆ–ญใƒปๆฒป็™‚ๆ–นๆณ•ใŒใจใ‚‰ใ‚Œใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ + NANDO:2200108 + Intracranial germ cell tumour + ใšใŒใ„ใชใ„ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ† ้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ - + + ้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ - - 69 - ้ ญ่“‹ๅ†…ใ‚ใ‚‹ใ„ใฏ่„ŠๆŸฑ็ฎกๅ†…ใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ๆ€ง็—…ๅค‰ใฏใ€ๅŽŸ็™บๆ€งใ€่ปข็งปๆ€งใซ้–ขใ‚ใ‚‰ใšใ€ใพใŸๆ‚ชๆ€งๅบฆใซ้–ขใ‚ใ‚‰ใšไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ™ใ‚‹ใ€‚ - 2200109 - + + 69 + ้ ญ่“‹ๅ†…ใ‚ใ‚‹ใ„ใฏ่„ŠๆŸฑ็ฎกๅ†…ใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ๆ€ง็—…ๅค‰ใฏใ€ๅŽŸ็™บๆ€งใ€่ปข็งปๆ€งใซ้–ขใ‚ใ‚‰ใšใ€ใพใŸๆ‚ชๆ€งๅบฆใซ้–ขใ‚ใ‚‰ใšไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ™ใ‚‹ใ€‚ + NANDO:2200109 + + 70ใ‹ใ‚‰90ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ† 70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ Other tumours of the central nervous system - + 70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ - - 23 - ็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(congenital nephrotic syndrome๏ผšCNS)ใจใใ‚Œไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(infantile NS๏ผšINS)ใจใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽCNSใ‚’ไปฃ่กจใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (congenital nephrotic syndrome of the Finnish type: CNF)ใงใ‚ใ‚‹(1, 2)ใ€‚ - 2200110 - + + 23 + ็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(congenital nephrotic syndrome๏ผšCNS)ใจใใ‚Œไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(infantile NS๏ผšINS)ใจใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽCNSใ‚’ไปฃ่กจใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (congenital nephrotic syndrome of the Finnish type: CNF)ใงใ‚ใ‚‹(1, 2)ใ€‚ + NANDO:2200110 + Congenital nephrotic syndrome of the Finnish type + ใตใƒใ‚“ใ‚‰ใ‚“ใฉใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - + CNF ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - - 22 - ็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎใ†ใก๏ผŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค๏ผˆINS๏ผ‰ใซๅˆ†้กžใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใŒ็™บ็—‡ใ—๏ผŒ็™บ็—‡ๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซๆœซๆœŸ่…Žไธๅ…จใซใชใ‚‹๏ผŽใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ใฎๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ็•ฐใชใ‚Š๏ผŒ็พŠๆฐดไธญใฎฮฑใƒ•ใ‚งใƒˆใƒ—ใƒญใƒ†ใ‚คใƒณใ‚„่ƒŽ็›ค้‡้‡ใฏ้€šๅธธ๏ผŒๆญฃๅธธใงใ‚ใ‚‹ใ€‚ - 2200111 - + + 22 + ็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎใ†ใก๏ผŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค๏ผˆINS๏ผ‰ใซๅˆ†้กžใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใŒ็™บ็—‡ใ—๏ผŒ็™บ็—‡ๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซๆœซๆœŸ่…Žไธๅ…จใซใชใ‚‹๏ผŽใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ใฎๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ็•ฐใชใ‚Š๏ผŒ็พŠๆฐดไธญใฎฮฑใƒ•ใ‚งใƒˆใƒ—ใƒญใƒ†ใ‚คใƒณใ‚„่ƒŽ็›ค้‡้‡ใฏ้€šๅธธ๏ผŒๆญฃๅธธใงใ‚ใ‚‹ใ€‚ + NANDO:2200111 + Diffuse mesangial sclerosis + ใณใพใ‚“ใ›ใ„ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ“ใ†ใ‹ใ—ใ‚‡ใ† ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡ - - + DMS - ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡ - - 21 - ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡ๅ€™ๅˆ†้กžใซใฆใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซๅ…‰ๅญฆ้ก•ๅพฎ้กไธŠใฏใปใจใ‚“ใฉๅค‰ๅŒ–ใ‚’่ชใ‚ใชใ„ (minor glomerular abnormalities) ็–พๆ‚ฃใ‚’๏ผŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (minimal change nephrotic syndrome: MCNS) ใจใ—ใฆใ„ใ‚‹ใ€‚๏ผ‘ๅนด้–“ใซๅฐๅ…10ไธ‡ไบบใซ2๏ฝž5ไบบใŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็™บ็—‡ใ—๏ผŒๅฐๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ็ด„90%ใฏๅŽŸๅ› ไธๆ˜Žใช็‰น็™บๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒใ•ใ‚‰ใซใใฎ็ด„90๏ผ…ใŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ - 2200112 - + + 21 + ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡ๅ€™ๅˆ†้กžใซใฆใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซๅ…‰ๅญฆ้ก•ๅพฎ้กไธŠใฏใปใจใ‚“ใฉๅค‰ๅŒ–ใ‚’่ชใ‚ใชใ„ (minor glomerular abnormalities) ็–พๆ‚ฃใ‚’๏ผŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (minimal change nephrotic syndrome: MCNS) ใจใ—ใฆใ„ใ‚‹ใ€‚๏ผ‘ๅนด้–“ใซๅฐๅ…10ไธ‡ไบบใซ2๏ฝž5ไบบใŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็™บ็—‡ใ—๏ผŒๅฐๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ็ด„90%ใฏๅŽŸๅ› ไธๆ˜Žใช็‰น็™บๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒใ•ใ‚‰ใซใใฎ็ด„90๏ผ…ใŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ + NANDO:2200112 + Minimal change nephrotic syndrome + ใณใ—ใ‚‡ใ†ใธใ‚“ใ‹ใŒใŸใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค + - + MCNS ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - - 20 - ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–ใฏใ€ๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใจใ„ใ†็—…็†ๅฝขๆ…‹ๅƒใ‚’่กจ็พใ™ใ‚‹็”จ่ชžใงใ‚ใ‚Šใ€่…Ž็šฎ่ณชๆทฑๅฑค(็šฎ้ซ„ๅขƒ็•Œ)ใฎไธ€้ƒจใฎ็ณธ็ƒไฝ“(ๅทฃ็Šถ)ใซๅˆ†็ฏ€็Šถใฎ็กฌๅŒ–ใ‚’่ชใ‚ใ‚‹ใ“ใจใง็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็ณธ็ƒไฝ“ๆ•ฐใฎ50๏ผ…ไปฅไธ‹ใซใ€ๅˆ†็ฏ€ๆ€ง(50๏ผ…/็ณธ็ƒไฝ“ไปฅไธ‹)ใฎๆฏ›็ดฐ่ก€็ฎก่™š่„ฑ(ใจๅŸบ่ณชใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ“ใจใฎ2ใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็ณธ็ƒไฝ“็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎไธญใซใ€่‡จๅบŠ็š„ใซ้ซ˜ๅบฆใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ‚’ไผดใ„ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงใ€ๅพใ€…ใซ่…ŽๆฉŸ่ƒฝ้šœๅฎณใŒ้€ฒๅฑ•ใ™ใ‚‹็–พๆ‚ฃ็พคใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹FSGSใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚็พๅœจใงใฏใ€FSGSใฎไธญใซใฏ็ต„็น”ๅญฆ็š„ใซๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅซใพใ‚Œใ€ใพใŸใ€ๅŽŸๅ› ใ‚„็—…ๆ…‹ใŒๆ˜Žใ‚‰ใ‹ใชไบŒๆฌกๆ€งใฎFSGSใ‚‚ๅŠ ใ‚ใ‚Šใ€่ค‡้›‘ใช็–พๆ‚ฃ็พคใซใ‚ˆใ‚Šๆง‹็ฏ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2004ๅนดใซใ‚ณใƒญใƒณใƒ“ใ‚ขๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€FSGSใฏ่‡จๅบŠ็š„ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ€้€šๅธธใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใ€ๅ…‰้ก•็š„ใซใฏ็ณธ็ƒไฝ“ใซๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็กฌๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ€้›ป้ก•็š„ใซๅบƒ็ฏ„ใช็ณธ็ƒไฝ“ไธŠ็šฎ็ดฐ่ƒžใฎ่ถณ็ช่ตทใฎๆถˆๅคฑ(effacement)ใ‚’ๅ‘ˆใ™ใ‚‹่‡จๅบŠ็—…็†ๅญฆ็š„็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ - 2200113 - + + 20 + ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–ใฏใ€ๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใจใ„ใ†็—…็†ๅฝขๆ…‹ๅƒใ‚’่กจ็พใ™ใ‚‹็”จ่ชžใงใ‚ใ‚Šใ€่…Ž็šฎ่ณชๆทฑๅฑค(็šฎ้ซ„ๅขƒ็•Œ)ใฎไธ€้ƒจใฎ็ณธ็ƒไฝ“(ๅทฃ็Šถ)ใซๅˆ†็ฏ€็Šถใฎ็กฌๅŒ–ใ‚’่ชใ‚ใ‚‹ใ“ใจใง็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็ณธ็ƒไฝ“ๆ•ฐใฎ50๏ผ…ไปฅไธ‹ใซใ€ๅˆ†็ฏ€ๆ€ง(50๏ผ…/็ณธ็ƒไฝ“ไปฅไธ‹)ใฎๆฏ›็ดฐ่ก€็ฎก่™š่„ฑ(ใจๅŸบ่ณชใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ“ใจใฎ2ใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็ณธ็ƒไฝ“็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎไธญใซใ€่‡จๅบŠ็š„ใซ้ซ˜ๅบฆใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ‚’ไผดใ„ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงใ€ๅพใ€…ใซ่…ŽๆฉŸ่ƒฝ้šœๅฎณใŒ้€ฒๅฑ•ใ™ใ‚‹็–พๆ‚ฃ็พคใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹FSGSใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚็พๅœจใงใฏใ€FSGSใฎไธญใซใฏ็ต„็น”ๅญฆ็š„ใซๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅซใพใ‚Œใ€ใพใŸใ€ๅŽŸๅ› ใ‚„็—…ๆ…‹ใŒๆ˜Žใ‚‰ใ‹ใชไบŒๆฌกๆ€งใฎFSGSใ‚‚ๅŠ ใ‚ใ‚Šใ€่ค‡้›‘ใช็–พๆ‚ฃ็พคใซใ‚ˆใ‚Šๆง‹็ฏ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2004ๅนดใซใ‚ณใƒญใƒณใƒ“ใ‚ขๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€FSGSใฏ่‡จๅบŠ็š„ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ€้€šๅธธใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใ€ๅ…‰้ก•็š„ใซใฏ็ณธ็ƒไฝ“ใซๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็กฌๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ€้›ป้ก•็š„ใซๅบƒ็ฏ„ใช็ณธ็ƒไฝ“ไธŠ็šฎ็ดฐ่ƒžใฎ่ถณ็ช่ตทใฎๆถˆๅคฑ(effacement)ใ‚’ๅ‘ˆใ™ใ‚‹่‡จๅบŠ็—…็†ๅญฆ็š„็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ + NANDO:2200113 + Focal segmental glomerulosclerosis + ใใ†ใ˜ใ‚‡ใ†ใถใ‚“ใ›ใคใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ - + - + FSGS ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ - - 24 - ่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็ณธ็ƒไฝ“ๅŸบๅบ•่†œไธŠ็šฎไธ‹ใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใจใ“ใ‚Œใซๅผ•ใ็ถšใ„ใฆ่ตทใ“ใ‚‹็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎๅๅฟœๆ€งๅค‰ๅŒ–๏ผˆใณใพใ‚“ๆ€ง่‚ฅๅŽš๏ผŒใ‚นใƒ‘ใ‚คใ‚ฏๅฝขๆˆ๏ผŒ็‚นๅˆปๅƒ๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒ่ฃœไฝ“ๆดปๆ€งๅŒ–ใชใฉใฎ็พ่ฑกใฏ็‚Ž็—‡ใฎไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰๏ผŒWHOๅˆ†้กž1ใงใฏ่†œๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranous glomerulonephritis)ใจใ—ใฆใ„ใ‚‹2ใ€‚ๆˆไบบใงใฏ๏ผŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ20๏ฝž30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใŒ๏ผŒๅฐๅ…ใงใฏ็™บ็—‡้ ปๅบฆใฏๅฐ‘ใชใ„ใ€‚่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็‰น็™บๆ€งใจ่† ๅŽŸ็—…๏ผŒๆ„ŸๆŸ“็—‡๏ผŒ่–ฌๅ‰ค๏ผŒๆ‚ชๆ€ง่…ซ็˜ใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ - 2200114 - + + 24 + ่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็ณธ็ƒไฝ“ๅŸบๅบ•่†œไธŠ็šฎไธ‹ใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใจใ“ใ‚Œใซๅผ•ใ็ถšใ„ใฆ่ตทใ“ใ‚‹็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎๅๅฟœๆ€งๅค‰ๅŒ–๏ผˆใณใพใ‚“ๆ€ง่‚ฅๅŽš๏ผŒใ‚นใƒ‘ใ‚คใ‚ฏๅฝขๆˆ๏ผŒ็‚นๅˆปๅƒ๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒ่ฃœไฝ“ๆดปๆ€งๅŒ–ใชใฉใฎ็พ่ฑกใฏ็‚Ž็—‡ใฎไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰๏ผŒWHOๅˆ†้กž1ใงใฏ่†œๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranous glomerulonephritis)ใจใ—ใฆใ„ใ‚‹2ใ€‚ๆˆไบบใงใฏ๏ผŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ20๏ฝž30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใŒ๏ผŒๅฐๅ…ใงใฏ็™บ็—‡้ ปๅบฆใฏๅฐ‘ใชใ„ใ€‚่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็‰น็™บๆ€งใจ่† ๅŽŸ็—…๏ผŒๆ„ŸๆŸ“็—‡๏ผŒ่–ฌๅ‰ค๏ผŒๆ‚ชๆ€ง่…ซ็˜ใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ + NANDO:2200114 + Membranous nephropathy + ใพใใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ† ่†œๆ€ง่…Ž็—‡ + - + ่†œๆ€ง่…Ž็—‡ - - 25 - ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒ้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉ็š„่ฆๅ› ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซ๏ผŒๅพŒๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏๅŽŸ็™บๆ€ง็ณธ็ƒไฝ“็–พๆ‚ฃใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŸบ็คŽ็–พๆ‚ฃใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ—ใฆใ€€1.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚„ใ€2.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ใณใพใ‚“ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎไป–่กจ๏ผ‘ใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏใ€3.ใ€€ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ€4.ใ€€ๅทฃ็Šถๆ€งๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใ€5.ใ€€่†œๆ€ง่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใŒ๏ผŒใใฎไป–ใซ่กจ2ใซ็คบใ™็–พๆ‚ฃใŒๅŽŸๅ› ใจใ—ใฆๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅฐๅ…ใงใฏ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚ŽใพใŸ๏ผŒๆ„ŸๆŸ“็—‡ใซไผดใ†ๆ€ฅๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ๆˆไบบใงใฏ็ณ–ๅฐฟ็—…ๆ€ง่…Ž็—‡ใ‚„ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚่กจ1ใ€€ๅ…ˆๅคฉๆ€งใƒปไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅˆ†้กž่กจ2ใ€€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸ็–พๆ‚ฃ - 2200115 - + + 25 + ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒ้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉ็š„่ฆๅ› ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซ๏ผŒๅพŒๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏๅŽŸ็™บๆ€ง็ณธ็ƒไฝ“็–พๆ‚ฃใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŸบ็คŽ็–พๆ‚ฃใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ—ใฆใ€€1.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚„ใ€2.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ใณใพใ‚“ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎไป–่กจ๏ผ‘ใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏใ€3.ใ€€ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ€4.ใ€€ๅทฃ็Šถๆ€งๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใ€5.ใ€€่†œๆ€ง่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใŒ๏ผŒใใฎไป–ใซ่กจ2ใซ็คบใ™็–พๆ‚ฃใŒๅŽŸๅ› ใจใ—ใฆๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅฐๅ…ใงใฏ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚ŽใพใŸ๏ผŒๆ„ŸๆŸ“็—‡ใซไผดใ†ๆ€ฅๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ๆˆไบบใงใฏ็ณ–ๅฐฟ็—…ๆ€ง่…Ž็—‡ใ‚„ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚่กจ1ใ€€ๅ…ˆๅคฉๆ€งใƒปไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅˆ†้กž่กจ2ใ€€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸ็–พๆ‚ฃ + NANDO:2200115 + 1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค Other nephrotic syndromes + ๏ผ‘ใ‹ใ‚‰๏ผ•ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + 1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค - - 25 - 2200116 - + + 25 + NANDO:2200116 + Denys-Drash syndrome Denys-Drash็—‡ๅ€™็พค + ใงใซใ™ใฉใ‚‰ใฃใ—ใ‚…ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + Denys-Drash็—‡ๅ€™็พค - - 25 - 2200117 - - Pierson syndrome + + 25 + NANDO:2200117 + + Pearson syndrome Pierson็—‡ๅ€™็พค + ใดใ‚ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + Pierson็—‡ๅ€™็พค - - 25 - 2200118 - + + 25 + NANDO:2200118 + + central nervous system malformation syndrome + ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใใ‘ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค - - - - 25 - 2200119 - - Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡ - Junctional epidermolysis bullosa, Herlitz-type + + + ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค + + + 25 + NANDO:2200119 + + Herlitz junctional epidermolysis bullosa + ใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + - + + Herlitz JEB + Herlitzๅž‹่กจ็šฎๆฐดๆณก็—‡ + Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡ - Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ - - 25 - 2200120 - + + 25 + NANDO:2200120 + Galloway-Mowat syndrome - ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒขใƒฏใƒˆ็—‡ๅ€™็พค + ใŽใ‚ƒใ‚ใ†ใ‡ใ„ใƒปใ‚‚ใ‚ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค + - + - ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒขใƒฏใƒˆ็—‡ๅ€™็พค + ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค - - 29 - IgA่…Ž็—‡ใฏ๏ผŒๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใก๏ผŒไธปใซๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgAใŒๅ…็–ซ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใ€่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซๆฒˆ็€ใ—๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใƒปๆ‹กๅคงใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200121 - + + 29 + IgA่…Ž็—‡ใฏ๏ผŒๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใก๏ผŒไธปใซๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgAใŒๅ…็–ซ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใ€่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซๆฒˆ็€ใ—๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใƒปๆ‹กๅคงใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200121 + IgA nephropathy IgA่…Ž็—‡ + ใ‚ใ„ใ˜ใƒผใˆใƒผใ˜ใ‚“ใ—ใ‚‡ใ† + - + IgA่…Ž็—‡ - - 41 - ใณใพใ‚“ๆ€งๅ…จ็ฏ€ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใ‚’ๅ‘ˆใ™ใ‚‹็—…ๅค‰ใงใ‚ใ‚‹ใ€‚MesPGNใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏๅคšๅฝฉใงใ‚ใ‚Š๏ผŒๅ…จ่บซๆ€ง็–พๆ‚ฃใซไผดใ†ใ‚‚ใฎใจไผดใ‚ใชใ„ใ‚‚ใฎ(ๅŽŸ็™บๆ€ง)ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰(1)ใ€‚MesPGNใฎใ†ใก๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ๆณ•ใซใฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgA๏ผŒ่ฃœไฝ“๏ผฃ3ใฎ้กž็ฒ’็Šถๆฒˆ็€ใŒไป–ใฎๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใ‚ˆใ‚Šใ‚‚ๅ„ชไฝใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒIgA่…Ž็—‡ใงใ‚ใ‚Š๏ผŒๅŽŸ็™บๆ€งใฎMesPGNใงใฏๆœ€ใ‚‚ๅคšใ„ใ€‚IgA่…Ž็—‡ไปฅๅค–ใฎใ‚‚ใฎใฏnon-IgA่…Ž็—‡ใจๅ‘ผใฐใ‚Œ๏ผŒIgM่…Ž็—‡ใ‚„C1q่…Ž็—‡๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ใŒ้™ฐๆ€งใฎใ‚‚ใฎใชใฉใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚่กจใ€€ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ(1) - 2200122 - + + 41 + ใณใพใ‚“ๆ€งๅ…จ็ฏ€ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใ‚’ๅ‘ˆใ™ใ‚‹็—…ๅค‰ใงใ‚ใ‚‹ใ€‚MesPGNใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏๅคšๅฝฉใงใ‚ใ‚Š๏ผŒๅ…จ่บซๆ€ง็–พๆ‚ฃใซไผดใ†ใ‚‚ใฎใจไผดใ‚ใชใ„ใ‚‚ใฎ(ๅŽŸ็™บๆ€ง)ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰(1)ใ€‚MesPGNใฎใ†ใก๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ๆณ•ใซใฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgA๏ผŒ่ฃœไฝ“๏ผฃ3ใฎ้กž็ฒ’็Šถๆฒˆ็€ใŒไป–ใฎๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใ‚ˆใ‚Šใ‚‚ๅ„ชไฝใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒIgA่…Ž็—‡ใงใ‚ใ‚Š๏ผŒๅŽŸ็™บๆ€งใฎMesPGNใงใฏๆœ€ใ‚‚ๅคšใ„ใ€‚IgA่…Ž็—‡ไปฅๅค–ใฎใ‚‚ใฎใฏnon-IgA่…Ž็—‡ใจๅ‘ผใฐใ‚Œ๏ผŒIgM่…Ž็—‡ใ‚„C1q่…Ž็—‡๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ใŒ้™ฐๆ€งใฎใ‚‚ใฎใชใฉใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚่กจใ€€ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ(1) + NANDO:2200122 + Mesangial proliferative glomerulonephritis + ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž + - + MesPGN ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 38 - ่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranoproliferative glomerulonephritis: MPGN)ใฏ๏ผŒ็—…็†็ต„็น”ๆ‰€่ฆ‹ไธŠ๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽšใซใ‚ˆใ‚Š่ก€็ฎก่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใฎไธ€ๆฌกๆ€งMPGNใจ๏ผŒๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚ŠMPGNใซ้กžไผผใ—ใŸ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบŒๆฌกๆ€งMPGNใŒใ‚ใ‚‹ใ€‚ใ€€็—…็†ๅญฆ็š„ใซ๏ผŒใณใพใ‚“ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ใฎไบŒ้‡ๅŒ–ใŠใ‚ˆใณ๏ผŒๅ†…็šฎ็ดฐ่ƒžไธ‹ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒๅ†…็šฎไธ‹่…”ใธใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎ้–“ๅ…ฅใชใฉใฎ็‰นๅพดใ‚’ๆœ‰ใ—๏ผŒ่‡จๅบŠ็š„ใซๆŒ็ถšๆ€งใฎไฝŽ่ฃœไฝ“่ก€็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚้›ป้ก•็š„ใซ๏ผŒ้ซ˜้›ปๅญๅฏ†ๅบฆๆฒˆ็€็‰ฉใฎๅญ˜ๅœจ้ƒจไฝใ‚ˆใ‚Š๏ผŒโ… ๅž‹(ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ)๏ผŒIIๅž‹(ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ)๏ผŒIIIๅž‹ (ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ+ไธŠ็šฎไธ‹ๆฒˆ็€็‰ฉ+ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒIIๅž‹MPGNใฏ๏ผŒDDD๏ผˆdensedepositdisease๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œ่ฃœไฝ“ๅˆถๅพกๅ› ๅญ๏ผŒ็‰นใซfactor HใฎๆฉŸ่ƒฝ็•ฐๅธธใŒ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆœ€่ฟ‘ๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒ่‡จๅบŠๅƒใ‚‚็•ฐใชใ‚‹็‚นใŒๅคšใ„ใ€‚WHOๅˆ†้กž(1995ๅนด)ใงใฏโ… ๅž‹๏ผŒIIIๅž‹ใจใฏ๏ผŒๅˆฅๅ€‹ใฎ็–พๆ‚ฃใจใจใ‚‰ใˆใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผŒIIๅž‹MPGNใฏไปฃ่ฌๆ€ง่…Ž็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200123 - + + 38 + ่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranoproliferative glomerulonephritis: MPGN)ใฏ๏ผŒ็—…็†็ต„็น”ๆ‰€่ฆ‹ไธŠ๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽšใซใ‚ˆใ‚Š่ก€็ฎก่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใฎไธ€ๆฌกๆ€งMPGNใจ๏ผŒๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚ŠMPGNใซ้กžไผผใ—ใŸ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบŒๆฌกๆ€งMPGNใŒใ‚ใ‚‹ใ€‚ใ€€็—…็†ๅญฆ็š„ใซ๏ผŒใณใพใ‚“ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ใฎไบŒ้‡ๅŒ–ใŠใ‚ˆใณ๏ผŒๅ†…็šฎ็ดฐ่ƒžไธ‹ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒๅ†…็šฎไธ‹่…”ใธใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎ้–“ๅ…ฅใชใฉใฎ็‰นๅพดใ‚’ๆœ‰ใ—๏ผŒ่‡จๅบŠ็š„ใซๆŒ็ถšๆ€งใฎไฝŽ่ฃœไฝ“่ก€็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚้›ป้ก•็š„ใซ๏ผŒ้ซ˜้›ปๅญๅฏ†ๅบฆๆฒˆ็€็‰ฉใฎๅญ˜ๅœจ้ƒจไฝใ‚ˆใ‚Š๏ผŒโ… ๅž‹(ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ)๏ผŒIIๅž‹(ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ)๏ผŒIIIๅž‹ (ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ+ไธŠ็šฎไธ‹ๆฒˆ็€็‰ฉ+ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒIIๅž‹MPGNใฏ๏ผŒDDD๏ผˆdensedepositdisease๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œ่ฃœไฝ“ๅˆถๅพกๅ› ๅญ๏ผŒ็‰นใซfactor HใฎๆฉŸ่ƒฝ็•ฐๅธธใŒ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆœ€่ฟ‘ๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒ่‡จๅบŠๅƒใ‚‚็•ฐใชใ‚‹็‚นใŒๅคšใ„ใ€‚WHOๅˆ†้กž(1995ๅนด)ใงใฏโ… ๅž‹๏ผŒIIIๅž‹ใจใฏ๏ผŒๅˆฅๅ€‹ใฎ็–พๆ‚ฃใจใจใ‚‰ใˆใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผŒIIๅž‹MPGNใฏไปฃ่ฌๆ€ง่…Ž็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200123 + Membranoproliferative glomerulonephritis + ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ ่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - + MPGN ่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 34 - ่ก€็ฎก็‚Žใฎๅ›ฝ้š›ๅˆ†้กž(1)ใฎHenoch-Schรถnlein็ดซๆ–‘็—…ใฎๅฎš็พฉใฏ๏ผŒ่งฆ็Ÿฅๅฏ่ƒฝใช็ดซๆ–‘๏ผˆpalpable purpura๏ผ‰ใ‚’ๅฟ…้ ˆ้ …็›ฎใจใ—๏ผŒ็šฎ่†šใ‚‚ใ—ใใฏ่…Ž็ต„็น”ใธใฎIgAๆฒˆ็€่…น็—›๏ผŒ้–ข็ฏ€็‚Žใฎใ„ใšใ‚Œใ‹ใŒๅญ˜ๅœจใ™ใ‚‹็—…ๆ…‹ใจใ—ใฆใ„ใ‚‹ใ€‚ใ€€1837ๅนดใซSchรถnleinใŒ็ดซๆ–‘ใจ้–ข็ฏ€็—›ใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒ1874ๅนดใซHenochใŒๆถˆๅŒ–ๅ™จ็—‡็Šถใจ่…Ž้šœๅฎณใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒHenoch-Schรถnlein็ดซๆ–‘็—…(HSP)ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ๆ—ฅๆœฌใงๆฑŽ็”จใ•ใ‚Œใ‚‹ใ‚ขใƒฌใƒซใ‚ฎใƒผ็ดซๆ–‘็—…ใฏ๏ผŒOslerใŒใ“ใฎ็–พๆ‚ฃใŒใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใจไปฎ่ชฌใ‚’็ซ‹ใฆ๏ผŒๆๅ”ฑใ—ใŸใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ฏใƒˆใ‚คใƒ‰็ดซๆ–‘็—…๏ผˆanaphylactoid purpura๏ผ‰ใจใ„ใ†็”จ่ชžใฎ่จณใงใ‚ใ‚‹ใŒ๏ผŒ็–พๆ‚ฃใฎๆœฌไฝ“ใฏใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใงใชใๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒใ“ใฎ็”จ่ชžใฏ็”จใ„ใ‚‰ใ‚Œใชใใชใฃใฆใใฆใ„ใ‚‹ใ€‚็พๅœจใงใฏHenoch-Schรถnlein็ดซๆ–‘็—… (HSP)ใจใฎๅ‘ผใณๅใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ€‚ใ€€HSPใฏ๏ผŒๅฐๅ…ใฎ่ก€็ฎก็‚Žใจใ—ใฆใฏๅทๅดŽ็—…ใซๆฌกใ„ใงๅคšใ๏ผŒHSPใซๅˆไฝตใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Ž๏ผŒHenoch-Schรถnlein ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž (Henoch-Schรถnlein purpura nephritis :HSPN) ใฏๅฐๅ…ใฎไบŒๆฌกๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใชใ‹ใงๆœ€ใ‚‚ๅคšใ„ใ€‚ใ€€HSPNใฏ๏ผŒIgA่…Ž็—‡ใจๅŒๆง˜ใซ่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgAๅ„ชไฝใฎๆฒˆ็€ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚IgA่…Ž็—‡ใจ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใฎ้–“ใฎๅ”ฏไธ€ใฎ้•ใ„ใฏ๏ผŒ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใงใฏ็šฎ่†šใซ็‚น็Šถๅ‡บ่ก€ๆ–‘ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใงใ‚ใ‚Š๏ผŒ็ณธ็ƒไฝ“็—…ๅค‰ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ไธก็–พๆ‚ฃใจใ‚‚ใซ็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒHSPใฎ็šฎ่†š็—…ๅค‰ใฏๅพŒๆฏ›็ดฐ่ก€็ฎก็ดฐ้™่„ˆใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚Š๏ผŒ็—…ๅค‰้ƒจไฝใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ€‚ - 2200124 - + + 34 + ่ก€็ฎก็‚Žใฎๅ›ฝ้š›ๅˆ†้กž(1)ใฎHenoch-Schรถnlein็ดซๆ–‘็—…ใฎๅฎš็พฉใฏ๏ผŒ่งฆ็Ÿฅๅฏ่ƒฝใช็ดซๆ–‘๏ผˆpalpable purpura๏ผ‰ใ‚’ๅฟ…้ ˆ้ …็›ฎใจใ—๏ผŒ็šฎ่†šใ‚‚ใ—ใใฏ่…Ž็ต„็น”ใธใฎIgAๆฒˆ็€่…น็—›๏ผŒ้–ข็ฏ€็‚Žใฎใ„ใšใ‚Œใ‹ใŒๅญ˜ๅœจใ™ใ‚‹็—…ๆ…‹ใจใ—ใฆใ„ใ‚‹ใ€‚ใ€€1837ๅนดใซSchรถnleinใŒ็ดซๆ–‘ใจ้–ข็ฏ€็—›ใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒ1874ๅนดใซHenochใŒๆถˆๅŒ–ๅ™จ็—‡็Šถใจ่…Ž้šœๅฎณใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒHenoch-Schรถnlein็ดซๆ–‘็—…(HSP)ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ๆ—ฅๆœฌใงๆฑŽ็”จใ•ใ‚Œใ‚‹ใ‚ขใƒฌใƒซใ‚ฎใƒผ็ดซๆ–‘็—…ใฏ๏ผŒOslerใŒใ“ใฎ็–พๆ‚ฃใŒใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใจไปฎ่ชฌใ‚’็ซ‹ใฆ๏ผŒๆๅ”ฑใ—ใŸใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ฏใƒˆใ‚คใƒ‰็ดซๆ–‘็—…๏ผˆanaphylactoid purpura๏ผ‰ใจใ„ใ†็”จ่ชžใฎ่จณใงใ‚ใ‚‹ใŒ๏ผŒ็–พๆ‚ฃใฎๆœฌไฝ“ใฏใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใงใชใๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒใ“ใฎ็”จ่ชžใฏ็”จใ„ใ‚‰ใ‚Œใชใใชใฃใฆใใฆใ„ใ‚‹ใ€‚็พๅœจใงใฏHenoch-Schรถnlein็ดซๆ–‘็—… (HSP)ใจใฎๅ‘ผใณๅใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ€‚ใ€€HSPใฏ๏ผŒๅฐๅ…ใฎ่ก€็ฎก็‚Žใจใ—ใฆใฏๅทๅดŽ็—…ใซๆฌกใ„ใงๅคšใ๏ผŒHSPใซๅˆไฝตใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Ž๏ผŒHenoch-Schรถnlein ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž (Henoch-Schรถnlein purpura nephritis :HSPN) ใฏๅฐๅ…ใฎไบŒๆฌกๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใชใ‹ใงๆœ€ใ‚‚ๅคšใ„ใ€‚ใ€€HSPNใฏ๏ผŒIgA่…Ž็—‡ใจๅŒๆง˜ใซ่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgAๅ„ชไฝใฎๆฒˆ็€ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚IgA่…Ž็—‡ใจ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใฎ้–“ใฎๅ”ฏไธ€ใฎ้•ใ„ใฏ๏ผŒ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใงใฏ็šฎ่†šใซ็‚น็Šถๅ‡บ่ก€ๆ–‘ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใงใ‚ใ‚Š๏ผŒ็ณธ็ƒไฝ“็—…ๅค‰ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ไธก็–พๆ‚ฃใจใ‚‚ใซ็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒHSPใฎ็šฎ่†š็—…ๅค‰ใฏๅพŒๆฏ›็ดฐ่ก€็ฎก็ดฐ้™่„ˆใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚Š๏ผŒ็—…ๅค‰้ƒจไฝใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:2200124 + Henoch-Schonlein purpura nephritis + ใ—ใฏใ‚“ใณใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใˆใ‚“ ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž - + - + HSPN + ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž - - 33 - ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(glomerular basement membrane:GBM๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใงใ‚ใ‚‹ๆŠ—GBMๆŠ—ไฝ“ใŒๅŽŸๅ› ใจใชใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚„ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis: RPGN)ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ1919ๅนดใซGoodpastureใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ“ใจใซใกใชใฟ๏ผŒGoodpastureโ€™s syndromeใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๆŠ—GBMๆŠ—ไฝ“ใซใ‚ˆใ‚Š่‚บๅ‡บ่ก€ใจRPGNใฎไธก่€…ใŒ็”Ÿใ˜ใŸๅ ดๅˆใซGoodpasture็—‡ๅ€™็พคใจๅ‘ผใถใ“ใจใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚’ไผดใ‚ใšใซRPGNใฎใฟใŒ็”Ÿใ˜ใŸใจใใฏ๏ผŒๆŠ—GBMๆŠ—ไฝ“ๅž‹่…Ž็‚Žใจๅ‘ผใถใ“ใจใŒๅคšใ„ใ€‚ - 2200125 - + + 33 + ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(glomerular basement membrane:GBM๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใงใ‚ใ‚‹ๆŠ—GBMๆŠ—ไฝ“ใŒๅŽŸๅ› ใจใชใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚„ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis: RPGN)ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ1919ๅนดใซGoodpastureใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ“ใจใซใกใชใฟ๏ผŒGoodpastureโ€™s syndromeใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๆŠ—GBMๆŠ—ไฝ“ใซใ‚ˆใ‚Š่‚บๅ‡บ่ก€ใจRPGNใฎไธก่€…ใŒ็”Ÿใ˜ใŸๅ ดๅˆใซGoodpasture็—‡ๅ€™็พคใจๅ‘ผใถใ“ใจใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚’ไผดใ‚ใšใซRPGNใฎใฟใŒ็”Ÿใ˜ใŸใจใใฏ๏ผŒๆŠ—GBMๆŠ—ไฝ“ๅž‹่…Ž็‚Žใจๅ‘ผใถใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200125 + Goodpasture syndrome + ใ“ใ†ใ—ใใ‚…ใ†ใŸใ„ใใฆใ„ใพใใ˜ใ‚“ใˆใ‚“ ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž + - - + + Anti-GBM Nephritis + Anti-glomerular basement membrane disease ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž - - 39 - Alport็—‡ๅ€™็พค(AS)ใฏ1927ๅนดใซAlportใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้€ฒ่กŒๆ€งใฎ่…Ž็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใง๏ผŒ่ดๅŠ›็•ฐๅธธใƒป็œผ็ƒ็•ฐๅธธใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹(1)ใ€‚ใใฎๅŽŸๅ› ้บไผๅญใฏ๏ผŒCOL4A3๏ผŒCOL4A4๏ผŒCOL4A5้บไผๅญใงใ‚ใ‚‹ใ€‚1990ๅนดใซๅˆใ‚ใฆCOL4A5้บไผๅญๅค‰็•ฐใŒ๏ผธๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๅž‹(X-linked Alport syndrome: XLAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œ(2)๏ผŒๆฌกใ„ใง1994ๅนดใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญๅค‰็•ฐใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅž‹(autosomal recessive Alport syndrome: ARAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(3)ใ€‚ASๅ…จไฝ“ใฎไธญใง๏ผŒXLASใŒ็ด„80๏ผ…๏ผŒARASใŒ็ด„15๏ผ…ใ‚’ๅ ใ‚ใ‚‹๏ผŽๆฎ‹ใ‚Šใฎ5๏ผ…ใฎไธญใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญใฎ็•ฐๅธธใ‹ใ‚‰ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅž‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹(4)ใ€‚ASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(GBM)ใฎ่ฒ่–„ๅŒ–ใƒปๆ–ญ่ฃ‚ใ‚’ไผดใฃใฆ้€ฒ่กŒใ—๏ผŒๆ•ฐๅนดใ‹ใ‚‰ๅๆ•ฐๅนดใ‚’็ตŒใฆๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹(5)ใ€‚ๅˆๆœŸ็—‡็Šถใฏ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใงใ‚ใ‚‹ใ“ใจใŒๅคšใ๏ผŒ็‰นใซXLASใฎ็”ทๆ€งใซใŠใ„ใฆๆˆไบบใซใชใฃใฆใ‹ใ‚‰ใปใผไพ‹ๅค–ใชใ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚XLASใฎใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚‹ๅฅณๆ€งใฎASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใฎใฟใฎ็—‡ไพ‹ใ‹ใ‚‰ๆ—ฉๆœŸใซๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹็—‡ไพ‹ใพใงๅคšๆง˜ใงใ‚ใ‚Š๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใฎไธๆดปๅŒ–็พ่ฑกใซใ‚ˆใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹(5)ใ€‚ - 2200126 - + + 39 + Alport็—‡ๅ€™็พค(AS)ใฏ1927ๅนดใซAlportใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้€ฒ่กŒๆ€งใฎ่…Ž็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใง๏ผŒ่ดๅŠ›็•ฐๅธธใƒป็œผ็ƒ็•ฐๅธธใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹(1)ใ€‚ใใฎๅŽŸๅ› ้บไผๅญใฏ๏ผŒCOL4A3๏ผŒCOL4A4๏ผŒCOL4A5้บไผๅญใงใ‚ใ‚‹ใ€‚1990ๅนดใซๅˆใ‚ใฆCOL4A5้บไผๅญๅค‰็•ฐใŒ๏ผธๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๅž‹(X-linked Alport syndrome: XLAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œ(2)๏ผŒๆฌกใ„ใง1994ๅนดใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญๅค‰็•ฐใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅž‹(autosomal recessive Alport syndrome: ARAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(3)ใ€‚ASๅ…จไฝ“ใฎไธญใง๏ผŒXLASใŒ็ด„80๏ผ…๏ผŒARASใŒ็ด„15๏ผ…ใ‚’ๅ ใ‚ใ‚‹๏ผŽๆฎ‹ใ‚Šใฎ5๏ผ…ใฎไธญใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญใฎ็•ฐๅธธใ‹ใ‚‰ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅž‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹(4)ใ€‚ASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(GBM)ใฎ่ฒ่–„ๅŒ–ใƒปๆ–ญ่ฃ‚ใ‚’ไผดใฃใฆ้€ฒ่กŒใ—๏ผŒๆ•ฐๅนดใ‹ใ‚‰ๅๆ•ฐๅนดใ‚’็ตŒใฆๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹(5)ใ€‚ๅˆๆœŸ็—‡็Šถใฏ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใงใ‚ใ‚‹ใ“ใจใŒๅคšใ๏ผŒ็‰นใซXLASใฎ็”ทๆ€งใซใŠใ„ใฆๆˆไบบใซใชใฃใฆใ‹ใ‚‰ใปใผไพ‹ๅค–ใชใ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚XLASใฎใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚‹ๅฅณๆ€งใฎASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใฎใฟใฎ็—‡ไพ‹ใ‹ใ‚‰ๆ—ฉๆœŸใซๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹็—‡ไพ‹ใพใงๅคšๆง˜ใงใ‚ใ‚Š๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใฎไธๆดปๅŒ–็พ่ฑกใซใ‚ˆใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹(5)ใ€‚ + NANDO:2200126 + Alport syndrome + ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ‚ใ‚‹ใฝใƒผใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - chronic glomerulonephritis + ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 30 - Epstein็—‡ๅ€™็พคใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ่…Ž็‚Ž๏ผŒ่ปฝๅบฆใฎ้›ฃ่ด๏ผŒๅทจๅคง่ก€ๅฐๆฟใฎๅ‡บ็พใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธ‰ๅพดใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒAlport็—‡ๅ€™็พคใจใฎ้กžไผผ็‚นใ‹ใ‚‰๏ผŒ้บไผๆ€ง่…Ž็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ ๅŒๆง˜ใซไธ‰ๅพดๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹Fechtner็—‡ๅ€™็พคใงใฏ็ฉŽ็ฒ’็ƒๅ†…ใซDรถhleๆง˜ๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใซๅฏพใ—ใฆ๏ผŒ Epstein็—‡ๅ€™็พคใงใฏๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ„ใ†็‚นใงไธก็—‡ๅ€™็พคใฏ้‘‘ๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅฎถ็ณปๅˆ†ๆžใ‚ˆใ‚Š๏ผŒ่ฒฌไปป้บไผๅญใฏ22q11-q13ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œnon-muscle myosin heavy chain typeIIA(NMMHC-IIA)ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MYH9้บไผๅญใŒ่ฆ‹ใ„ใ ใ•ใ‚ŒใŸใ€‚ใ“ใฎ้บไผๅญใฏๅทจๅคง่ก€ๅฐๆฟใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅ…ฑ้€š็™บ็พ็—‡็Šถใจใ™ใ‚‹Epstein็—‡ๅ€™็พค๏ผŒFechtner็—‡ๅ€™็พคใจใจใ‚‚ใซ๏ผŒMay-Hegglin็•ฐๅธธ๏ผŒ Sebastian็—‡ๅ€™็พคใฎ่ฒฌไปป้บไผๅญใงใ‚‚ใ‚ใ‚‹ใ€‚MYH9็•ฐๅธธ็—‡ใฎใ†ใกMay-Hegglin็•ฐๅธธใจSebastian็—‡ๅ€™็พคใฏ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฎๅฝขๆ…‹ใฎ้•ใ„ใซใ‚ˆใฃใฆๅŒบๅˆฅใ•ใ‚Œ๏ผŒใ“ใ‚Œใ‚‰2ใคใฎ็–พๆ‚ฃใงใฏ่…Ž็—‡็Šถใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200127 - + + 30 + Epstein็—‡ๅ€™็พคใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ่…Ž็‚Ž๏ผŒ่ปฝๅบฆใฎ้›ฃ่ด๏ผŒๅทจๅคง่ก€ๅฐๆฟใฎๅ‡บ็พใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธ‰ๅพดใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒAlport็—‡ๅ€™็พคใจใฎ้กžไผผ็‚นใ‹ใ‚‰๏ผŒ้บไผๆ€ง่…Ž็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ ๅŒๆง˜ใซไธ‰ๅพดๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹Fechtner็—‡ๅ€™็พคใงใฏ็ฉŽ็ฒ’็ƒๅ†…ใซDรถhleๆง˜ๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใซๅฏพใ—ใฆ๏ผŒ Epstein็—‡ๅ€™็พคใงใฏๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ„ใ†็‚นใงไธก็—‡ๅ€™็พคใฏ้‘‘ๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅฎถ็ณปๅˆ†ๆžใ‚ˆใ‚Š๏ผŒ่ฒฌไปป้บไผๅญใฏ22q11-q13ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œnon-muscle myosin heavy chain typeIIA(NMMHC-IIA)ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MYH9้บไผๅญใŒ่ฆ‹ใ„ใ ใ•ใ‚ŒใŸใ€‚ใ“ใฎ้บไผๅญใฏๅทจๅคง่ก€ๅฐๆฟใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅ…ฑ้€š็™บ็พ็—‡็Šถใจใ™ใ‚‹Epstein็—‡ๅ€™็พค๏ผŒFechtner็—‡ๅ€™็พคใจใจใ‚‚ใซ๏ผŒMay-Hegglin็•ฐๅธธ๏ผŒ Sebastian็—‡ๅ€™็พคใฎ่ฒฌไปป้บไผๅญใงใ‚‚ใ‚ใ‚‹ใ€‚MYH9็•ฐๅธธ็—‡ใฎใ†ใกMay-Hegglin็•ฐๅธธใจSebastian็—‡ๅ€™็พคใฏ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฎๅฝขๆ…‹ใฎ้•ใ„ใซใ‚ˆใฃใฆๅŒบๅˆฅใ•ใ‚Œ๏ผŒใ“ใ‚Œใ‚‰2ใคใฎ็–พๆ‚ฃใงใฏ่…Ž็—‡็Šถใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200127 + Epstein syndrome + ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค - - + + - - AS + Epstein็—‡ๅ€™็พค - - - - ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค - - 42 - ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(systemic lupus erythematosus: SLE)ใฏ๏ผŒๆŠ—DNAๆŠ—ไฝ“ใ‚’ๅซใ‚€ๅ…็–ซ่ค‡ๅˆไฝ“(immune complex)ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅคš่‡“ๅ™จ็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็‚Ž็—‡ๆ€ง่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใชใ‹ใงใ‚‚๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž(lupus nephritis: LN)ใฏ๏ผŒSLEใซๅˆไฝตใ™ใ‚‹ๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‡“ๅ™จ็—…ๅค‰ใงใ‚ใ‚Š๏ผŒไบˆๅพŒใ‚’ๆฑบๅฎšใ™ใ‚‹ๅ› ๅญใงใ‚ใ‚‹ใ€‚ - 2200128 - + + 42 + ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(systemic lupus erythematosus: SLE)ใฏ๏ผŒๆŠ—DNAๆŠ—ไฝ“ใ‚’ๅซใ‚€ๅ…็–ซ่ค‡ๅˆไฝ“(immune complex)ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅคš่‡“ๅ™จ็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็‚Ž็—‡ๆ€ง่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใชใ‹ใงใ‚‚๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž(lupus nephritis: LN)ใฏ๏ผŒSLEใซๅˆไฝตใ™ใ‚‹ๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‡“ๅ™จ็—…ๅค‰ใงใ‚ใ‚Š๏ผŒไบˆๅพŒใ‚’ๆฑบๅฎšใ™ใ‚‹ๅ› ๅญใงใ‚ใ‚‹ใ€‚ + NANDO:2200128 + Lupus Nephritis + ใ‚‹ใƒผใทใ™ใ˜ใ‚“ใˆใ‚“ ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž - + LN - ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž - - 31 - MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚ - 2200129 - + + 31 + MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚ + NANDO:2200129 + rapidly progressive glomerulonephritis due to Microscopic Poly-angitis + ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - + rapidly progressive glomerulonephritis due to MPA + ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 31 - MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚ - 2200130 - + + 31 + ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis๏ผšRPGN)ใจใฏ๏ผŒๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผšใŒๆๅ”ฑใ—ใŸ่จบๆ–ญๅŸบๆบ– (1)ใงใฏ๏ผŒใ€Œๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆใฎ็ตŒ้Žใงๆ€ฅ้€Ÿใซ่…Žไธๅ…จใŒ้€ฒ่กŒใ—๏ผŒ่ก€ๅฐฟ๏ผŒ่›‹็™ฝๅฐฟ๏ผŒๅ††ๆŸฑๅฐฟใชใฉใ‚’่ชใ‚ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใ€ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚WHOใงใฏใ€Œๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆฝœๅœจๆ€งใซ็™บ็—‡ใ™ใ‚‹๏ผŒ่‚‰็œผ็š„่ก€ๅฐฟ๏ผŒ่›‹็™ฝๅฐฟ๏ผŒ่ฒง่ก€๏ผŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹่…Žไธๅ…จ็—‡ๅ€™็พคใ€ใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎๅŸบๆบ–ใ‚’ๆบ€ใŸใ›ใฐ๏ผŒๅŽŸๅ› ใฎ็ณธ็ƒไฝ“่…Ž็‚Žใฎ็จฎ้กžใ‚’ๅ•ใ‚ใšRPGNใจใ•ใ‚Œใ‚‹ใ€‚ใ™ใชใ‚ใก๏ผŒRPGNใจใฏ็Šถๆ…‹ใ‚’่กจใ™่จบๆ–ญๅใงใ‚ใ‚Š๏ผŒๅ›บๆœ‰ใฎ็–พๆ‚ฃๅใงใฏใชใ„ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏ๏ผŒ่ฟ‘ๅนดWegener่‚‰่Šฝ่…ซใ‚ˆใ‚Šใใฎๅ็งฐใŒๅค‰ๆ›ดใจใชใฃใŸใ‚‚ใฎใง๏ผŒ1939ๅนดใซใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…WegenerใŒๆๅ”ฑใ—ใŸ๏ผŒโ‘ ่€ณ๏ผŒ็œผ๏ผŒ้ผปๅ’ฝ้ ญใ‚’ๅซใ‚€ไธŠๆฐ—้“ใŠใ‚ˆใณ่‚บใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผŒโ‘กๅ…จ่บซ่ซธ่‡“ๅ™จใฎๅฐใƒปไธญๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Ž๏ผŒโ‘ขๅฃŠๆญปๆ€งๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200130 + rapidly progressive glomerulonephritis due to Granulomatosis with polyangiitis + ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - - rapidly progressive glomerulonephritis due to GPA + + + + ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 36 - ้žๅฎšๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค (atypical hemolytic uremic syndrome, aHUS)ใฏ๏ผŒๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSใจADAMTS13(adisintegrin-like and metalloproteinase with thrombospondin type l motifs, member 13)ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… (thrombotic thrombocytopenic purpura, TTP)ไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ(thrombotic microangiopathy, TMA)ใง๏ผŒๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใƒป่ก€ๅฐๆฟๆธ›ๅฐ‘ใƒปๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury, AKI)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200131 - - Atypical haemolytic uraemic syndrome + + 36 + ้žๅฎšๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค (atypical hemolytic uremic syndrome, aHUS)ใฏ๏ผŒๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSใจADAMTS13(adisintegrin-like and metalloproteinase with thrombospondin type l motifs, member 13)ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… (thrombotic thrombocytopenic purpura, TTP)ไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ(thrombotic microangiopathy, TMA)ใง๏ผŒๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใƒป่ก€ๅฐๆฟๆธ›ๅฐ‘ใƒปๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury, AKI)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200131 + + Atypical hemolytic uremic syndrome + ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - + + - + + Atypical haemolytic uraemic syndrome aHUS ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - 35 - ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค(nail-patella็—‡ๅ€™็พค๏ผŒMIM161200)ใฏ๏ผŒ็ˆชๅฝขๆˆไธๅ…จ๏ผŒ่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆ๏ผŒ่…ธ้ชจใฎ่ง’็Šถ็ช่ตท(Iliac horn)๏ผŒ่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’4ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—๏ผŒไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ - 2200132 - + + 35 + ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค(nail-patella็—‡ๅ€™็พค๏ผŒMIM161200)ใฏ๏ผŒ็ˆชๅฝขๆˆไธๅ…จ๏ผŒ่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆ๏ผŒ่…ธ้ชจใฎ่ง’็Šถ็ช่ตท(Iliac horn)๏ผŒ่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’4ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—๏ผŒไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ + NANDO:2200132 + Nail-patella syndrome + ใญใ„ใ‚‹ใƒปใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค + - - aHUS - ็ˆช่†่“‹็—‡ๅ€™็พค + + ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค - ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค - - 37 - ้žๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณ็”ฑๆฅใฎ็นŠ็ถญๆ€ง็‰ฉ่ณช๏ผˆใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ; FN๏ผ‰ใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ๅ‘ˆใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๆฒˆ็€ใ™ใ‚‹FNใฏ็ต„็น”็”ฑๆฅใงใชใ่ก€ๆผฟ็”ฑๆฅใงใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 2200133 - + + 37 + ้žๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณ็”ฑๆฅใฎ็นŠ็ถญๆ€ง็‰ฉ่ณช๏ผˆใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ; FN๏ผ‰ใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ๅ‘ˆใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๆฒˆ็€ใ™ใ‚‹FNใฏ็ต„็น”็”ฑๆฅใงใชใ่ก€ๆผฟ็”ฑๆฅใงใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:2200133 + Glomerulopathy with fibronectin deposits, fibronectin nephropathy + ใตใƒใถใ‚ใญใใกใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ† ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡ - + + ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡ - - 40 - ใƒชใƒ่›‹็™ฝ็ณธ็ƒไฝ“็—‡๏ผˆlipoprotein glomerulopathy; LPG๏ผ‰ใฏใ€็ณธ็ƒไฝ“ๅ†…ใซใƒชใƒ่›‹็™ฝใ‚’ๅซใ‚€่ก€ๆ “ๆง˜็‰ฉ่ณชใŒๅ‡บ็พใ™ใ‚‹ใ€็‰น็•ฐ็š„ใช่…Ž้šœๅฎณใ‚’็คบใ™ๅŽŸ็™บๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1986 ๅนดใซๆ—ฅๆœฌใงๅˆใ‚ใฆ็™บ่ฆ‹ใ•ใ‚Œ1989ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใชใ•ใ‚Œ๏ผˆ๏ผ‘๏ผ‰ใ€็พๅœจใพใงใซๆ—ฅๆœฌใ‚„ไธญๅ›ฝใ‚’ใฏใ˜ใ‚ใจใ—ใŸไธ–็•Œๅ„ๅ›ฝใง150็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผˆ๏ผ’๏ผ‰ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๆ‹กๅผตใ—ใŸ็ณธ็ƒไฝ“่ก€็ฎก่…”ใซ็ถฒ็ŠถใฎๆทกๆŸ“ๆ€ง็‰ฉ่ณชใงใ‚ใ‚‹ใƒชใƒ่›‹็™ฝใŒ่ก€ๆ “็Šถใซๅ……ๆบ€ใ™ใ‚‹็‰น็•ฐ็š„ใชๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆโ…ขๅž‹้ซ˜่„‚่ก€็—‡้กžไผผใฎๆ‰€่ฆ‹ใ‚„่ก€ๆธ…ใ‚ขใƒ่›‹็™ฝ๏ผˆใ‚ขใƒ๏ผ‰E้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใใฎๅŽŸๅ› ใจใ—ใฆใ€ใ•ใพใ–ใพใชใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใฎApoE้บไผๅญๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœช็™บ็—‡ไฟๅ› ่€…ใ‚‚ใŠใ‚Šใ€ไป–ใฎ่ฆๅ› ใฎ้–ขไธŽใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่›‹็™ฝๅฐฟใง็™บ็—‡ใ—ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็ตŒใฆ็ด„ๅŠๆ•ฐใŒๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚Šใ€่…Ž็งปๆคใ‚’ใ—ใฆใ‚‚ๅ†็™บใ—็งปๆค่…ŽใŒๅปƒ็ตถใซ่‡ณใ‚‹ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒ๏ผˆ3, 4๏ผ‰ใ€่ฟ‘ๅนดใ€ๆฒป็™‚ๆณ•ใจใ—ใฆใƒ•ใ‚ฃใƒ–ใƒฉใƒผใƒˆใ‚’ไธญๅฟƒใจใ—ใŸ้ซ˜่„‚่ก€็—‡ๆ”นๅ–„่–ฌใŒๆœ‰็”จใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผˆ๏ผ•,6, 7๏ผ‰ใ€‚ - 2200134 - + + 40 + ใƒชใƒ่›‹็™ฝ็ณธ็ƒไฝ“็—‡๏ผˆlipoprotein glomerulopathy; LPG๏ผ‰ใฏใ€็ณธ็ƒไฝ“ๅ†…ใซใƒชใƒ่›‹็™ฝใ‚’ๅซใ‚€่ก€ๆ “ๆง˜็‰ฉ่ณชใŒๅ‡บ็พใ™ใ‚‹ใ€็‰น็•ฐ็š„ใช่…Ž้šœๅฎณใ‚’็คบใ™ๅŽŸ็™บๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1986 ๅนดใซๆ—ฅๆœฌใงๅˆใ‚ใฆ็™บ่ฆ‹ใ•ใ‚Œ1989ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใชใ•ใ‚Œ๏ผˆ๏ผ‘๏ผ‰ใ€็พๅœจใพใงใซๆ—ฅๆœฌใ‚„ไธญๅ›ฝใ‚’ใฏใ˜ใ‚ใจใ—ใŸไธ–็•Œๅ„ๅ›ฝใง150็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผˆ๏ผ’๏ผ‰ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๆ‹กๅผตใ—ใŸ็ณธ็ƒไฝ“่ก€็ฎก่…”ใซ็ถฒ็ŠถใฎๆทกๆŸ“ๆ€ง็‰ฉ่ณชใงใ‚ใ‚‹ใƒชใƒ่›‹็™ฝใŒ่ก€ๆ “็Šถใซๅ……ๆบ€ใ™ใ‚‹็‰น็•ฐ็š„ใชๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆโ…ขๅž‹้ซ˜่„‚่ก€็—‡้กžไผผใฎๆ‰€่ฆ‹ใ‚„่ก€ๆธ…ใ‚ขใƒ่›‹็™ฝ๏ผˆใ‚ขใƒ๏ผ‰E้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใใฎๅŽŸๅ› ใจใ—ใฆใ€ใ•ใพใ–ใพใชใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใฎApoE้บไผๅญๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœช็™บ็—‡ไฟๅ› ่€…ใ‚‚ใŠใ‚Šใ€ไป–ใฎ่ฆๅ› ใฎ้–ขไธŽใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่›‹็™ฝๅฐฟใง็™บ็—‡ใ—ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็ตŒใฆ็ด„ๅŠๆ•ฐใŒๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚Šใ€่…Ž็งปๆคใ‚’ใ—ใฆใ‚‚ๅ†็™บใ—็งปๆค่…ŽใŒๅปƒ็ตถใซ่‡ณใ‚‹ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒ๏ผˆ3, 4๏ผ‰ใ€่ฟ‘ๅนดใ€ๆฒป็™‚ๆณ•ใจใ—ใฆใƒ•ใ‚ฃใƒ–ใƒฉใƒผใƒˆใ‚’ไธญๅฟƒใจใ—ใŸ้ซ˜่„‚่ก€็—‡ๆ”นๅ–„่–ฌใŒๆœ‰็”จใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผˆ๏ผ•,6, 7๏ผ‰ใ€‚ + NANDO:2200134 + Lipoprotein glomerulopathy + ใ‚ŠใฝใŸใ‚“ใฑใใ—ใใ‚…ใ†ใŸใ„ใ—ใ‚‡ใ† ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡ + - + ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡ - - 43 - ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ่›‹็™ฝๅฐฟใŠใ‚ˆใณ๏ผˆใพใŸใฏ๏ผ‰่ก€ๅฐฟใฎๅฐฟๆ‰€่ฆ‹็•ฐๅธธใŒ1ๅนดไปฅไธŠ็ถšใใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹่…Ž็–พๆ‚ฃใฎ่‡จๅบŠๆฆ‚ๅฟตใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅŽŸ็–พๆ‚ฃใจใ—ใฆ๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซ่กจใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚่กจใ€€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽใฎๅŽŸ็–พๆ‚ฃ - 2200135 - + + 43 + ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ่›‹็™ฝๅฐฟใŠใ‚ˆใณ๏ผˆใพใŸใฏ๏ผ‰่ก€ๅฐฟใฎๅฐฟๆ‰€่ฆ‹็•ฐๅธธใŒ1ๅนดไปฅไธŠ็ถšใใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹่…Ž็–พๆ‚ฃใฎ่‡จๅบŠๆฆ‚ๅฟตใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅŽŸ็–พๆ‚ฃใจใ—ใฆ๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซ่กจใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚่กจใ€€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽใฎๅŽŸ็–พๆ‚ฃ + NANDO:2200135 + + 7ใ‹ใ‚‰20ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“ 7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž Other chronic glomerulonephritis - + 7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž - - 47 - ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž(TIN)ใฏ็—…็†็ต„็น”ๅญฆ็š„ๆฆ‚ๅฟตใง๏ผŒๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณ้–“่ณชใฎ็‚Ž็—‡ใ‚’ไธปไฝ“ใจใ—ใŸ้›‘ๅคšใชๅฝขๆ…‹ๅญฆ็š„ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹่…Ž็—…ๅค‰ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒๅคšๅฝฉใงๅบƒ็ฏ„ใช็—…ๅ› ๏ผŒ็—…ๆ…‹๏ผŒ่‡จๅบŠ็š„ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹(1๏ผŒ 2)ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ๏ผŒๆตฎ่…ซใ‚„็ดฐ่ƒžๆตธๆฝคใชใฉใฎๆ€ฅๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ€ฅๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใจ๏ผŒ้–“่ณช็ทš็ถญๅŒ–๏ผŒๅฐฟ็ดฐ็ฎกใฎ่Ž็ธฎใชใฉใฎๆ…ขๆ€งๅค‰ๅŒ–ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—๏ผŒๆ€ฅๆ€งใงใ‚‚ใ•ใพใ–ใพใช็จ‹ๅบฆใซ็ทš็ถญๅŒ–็—…ๅค‰ใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใพใŸๆ…ขๆ€งใงใ‚‚็‚Ž็—‡็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŸใ‚๏ผŒๆ€ฅๆ€งใƒปๆ…ขๆ€งใฎ้‘‘ๅˆฅใฏ็—…็†็ต„็น”ๆ‰€่ฆ‹ใฎใฟใงใฏๆ˜Ž็ขบใงใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏ็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใจ่‡จๅบŠ็ตŒ้Žใ‚’่€ƒๆ…ฎใ—ใฆ๏ผŒๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆ…ขๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹(2)ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใ‚„่ช˜ๅ› ใ‹ใ‚‰ๅˆ†้กžใ™ใ‚‹่€ƒใˆๆ–นใŒWHOใฎๅˆ†้กžใŒๅบƒใ็”จใ„ใ‚‰ใ‚Œใ‚‹(่กจ)(3)ใ€‚ - 2200136 - + + 47 + ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž(TIN)ใฏ็—…็†็ต„็น”ๅญฆ็š„ๆฆ‚ๅฟตใง๏ผŒๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณ้–“่ณชใฎ็‚Ž็—‡ใ‚’ไธปไฝ“ใจใ—ใŸ้›‘ๅคšใชๅฝขๆ…‹ๅญฆ็š„ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹่…Ž็—…ๅค‰ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒๅคšๅฝฉใงๅบƒ็ฏ„ใช็—…ๅ› ๏ผŒ็—…ๆ…‹๏ผŒ่‡จๅบŠ็š„ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹(1๏ผŒ 2)ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ๏ผŒๆตฎ่…ซใ‚„็ดฐ่ƒžๆตธๆฝคใชใฉใฎๆ€ฅๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ€ฅๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใจ๏ผŒ้–“่ณช็ทš็ถญๅŒ–๏ผŒๅฐฟ็ดฐ็ฎกใฎ่Ž็ธฎใชใฉใฎๆ…ขๆ€งๅค‰ๅŒ–ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—๏ผŒๆ€ฅๆ€งใงใ‚‚ใ•ใพใ–ใพใช็จ‹ๅบฆใซ็ทš็ถญๅŒ–็—…ๅค‰ใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใพใŸๆ…ขๆ€งใงใ‚‚็‚Ž็—‡็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŸใ‚๏ผŒๆ€ฅๆ€งใƒปๆ…ขๆ€งใฎ้‘‘ๅˆฅใฏ็—…็†็ต„็น”ๆ‰€่ฆ‹ใฎใฟใงใฏๆ˜Ž็ขบใงใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏ็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใจ่‡จๅบŠ็ตŒ้Žใ‚’่€ƒๆ…ฎใ—ใฆ๏ผŒๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆ…ขๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹(2)ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใ‚„่ช˜ๅ› ใ‹ใ‚‰ๅˆ†้กžใ™ใ‚‹่€ƒใˆๆ–นใŒWHOใฎๅˆ†้กžใŒๅบƒใ็”จใ„ใ‚‰ใ‚Œใ‚‹(่กจ)(3)ใ€‚ + NANDO:2200136 + Tubulointerstitial nephritis + ใพใ‚“ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใ˜ใ‚“ใˆใ‚“ ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž - + TIN ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž - - 44 - ๆ…ขๆ€ง่…ŽๅญŸ่…Ž็‚Ž(chronicใ€€pyelonephritis๏ผ‰ใฏๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฐฟ่ทฏๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ๏ผŒๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Žใจ็งฐใ›ใ‚‰ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฎๆฎ†ใฉใŒ้€†ๆตๆ€ง่…Ž็—‡๏ผˆreflux nephropathy๏ผ‰ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹(1)ใ€‚ - 2200137 - + + 44 + ๆ…ขๆ€ง่…ŽๅญŸ่…Ž็‚Ž(chronicใ€€pyelonephritis๏ผ‰ใฏๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฐฟ่ทฏๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ๏ผŒๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Žใจ็งฐใ›ใ‚‰ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฎๆฎ†ใฉใŒ้€†ๆตๆ€ง่…Ž็—‡๏ผˆreflux nephropathy๏ผ‰ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹(1)ใ€‚ + NANDO:2200137 + Chronic pyelonephritis + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ†ใ˜ใ‚“ใˆใ‚“ ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž - + ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž - - 1 - ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅฏๆบถๆ€ง่›‹็™ฝใŒๅ‡้›†ใ—๏ผŒฮฒๆง‹้€ ใ‚’ๆœ‰ใ™ใ‚‹ไธๆบถๅŒ–่›‹็™ฝใŒใ•ใพใ–ใพใช่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’ไป‹ใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒใ“ใฎใ†ใกใ‚ขใƒŸใƒญใ‚คใƒ‰่›‹็™ฝใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ—๏ผŒ็ต„็น”้šœๅฎณใ‚’่ตทใ“ใ™ใ‚‚ใฎใŒใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใงใ‚ใ‚‹ใ€‚ - 2200138 - + + 1 + ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅฏๆบถๆ€ง่›‹็™ฝใŒๅ‡้›†ใ—๏ผŒฮฒๆง‹้€ ใ‚’ๆœ‰ใ™ใ‚‹ไธๆบถๅŒ–่›‹็™ฝใŒใ•ใพใ–ใพใช่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’ไป‹ใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒใ“ใฎใ†ใกใ‚ขใƒŸใƒญใ‚คใƒ‰่›‹็™ฝใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ—๏ผŒ็ต„็น”้šœๅฎณใ‚’่ตทใ“ใ™ใ‚‚ใฎใŒใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200138 + Amyloid nephropathy + ใ‚ใฟใ‚ใ„ใฉใ˜ใ‚“ ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž - + + ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž - - 3 - ่‹ฅๅนด(่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใ™ใ‚‹ๅ‰)ใ‹ใ‚‰ๆŽ’ๆณ„ไฝŽไธ‹ๅž‹้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ—๏ผŒ30๏ฝž40ๆญณไปฃใงๆœซๆœŸ่…Žไธๅ…จใซ่‡ณใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹1)ใ€‚ ้ซ˜็Ž‡ใซ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ—๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใซๅฏพใ™ใ‚‹ๅๅˆ†ใชๆฒป็™‚ใ‚’ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่…Ž้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„1๏ฝž4)ใ€‚็”ทๅฅณใจใ‚‚ใซ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€็—…ๅใซใคใ„ใฆใฏ๏ผŒๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง็—›้ขจ่…Ž็—‡(familial juvenile gouty nephropathy ;FJGN)๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่…Ž็—‡(familial nephropathy associated with hyper uricemia ; FNAH)๏ผŒๅฎถๆ—ๆ€ง่…Žๆ€ง็—›้ขจ (familial renal gout)ใชใฉใฎๅ‘ผใณๆ–นใŒใ‚ใ‚Š๏ผŒ็ตฑไธ€ใ•ใ‚Œใฆใ„ใชใ„ใ€‚่ฟ‘ๅนดuromodulin้บไผๅญ็•ฐๅธธใซๅŸบใฅใ็–พๆ‚ฃ็พคใŒๆๅ”ฑใ•ใ‚Œ๏ผŒๆœฌ็—‡ใฏ็พๅœจuromodulin้–ข้€ฃ่…Ž็–พๆ‚ฃ๏ผˆuromodulin-associated kidney diseases: UAKD๏ผ‰ใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200139 - - Familial juvenile hyperuricaemic nephropathy + + 3 + ่‹ฅๅนด(่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใ™ใ‚‹ๅ‰)ใ‹ใ‚‰ๆŽ’ๆณ„ไฝŽไธ‹ๅž‹้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ—๏ผŒ30๏ฝž40ๆญณไปฃใงๆœซๆœŸ่…Žไธๅ…จใซ่‡ณใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹1)ใ€‚ ้ซ˜็Ž‡ใซ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ—๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใซๅฏพใ™ใ‚‹ๅๅˆ†ใชๆฒป็™‚ใ‚’ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่…Ž้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„1๏ฝž4)ใ€‚็”ทๅฅณใจใ‚‚ใซ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€็—…ๅใซใคใ„ใฆใฏ๏ผŒๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง็—›้ขจ่…Ž็—‡(familial juvenile gouty nephropathy ;FJGN)๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่…Ž็—‡(familial nephropathy associated with hyper uricemia ; FNAH)๏ผŒๅฎถๆ—ๆ€ง่…Žๆ€ง็—›้ขจ (familial renal gout)ใชใฉใฎๅ‘ผใณๆ–นใŒใ‚ใ‚Š๏ผŒ็ตฑไธ€ใ•ใ‚Œใฆใ„ใชใ„ใ€‚่ฟ‘ๅนดuromodulin้บไผๅญ็•ฐๅธธใซๅŸบใฅใ็–พๆ‚ฃ็พคใŒๆๅ”ฑใ•ใ‚Œ๏ผŒๆœฌ็—‡ใฏ็พๅœจuromodulin้–ข้€ฃ่…Ž็–พๆ‚ฃ๏ผˆuromodulin-associated kidney diseases: UAKD๏ผ‰ใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200139 + + Familial juvenile hyperuricemic nephropathy + ใ‹ใžใใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใ†ใซใ‚‡ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡ - - + FJHN + Familial juvenile hyperuricaemic nephropathy - ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡ - - 26 - ใƒใƒ•ใƒญใƒณ็™†(nephronophthisis: NPH)ใฏ๏ผŒ่…Ž้ซ„่ณชใซๅšข่ƒžๅฝขๆˆใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใงใ‚ใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ็กฌๅŒ–๏ผŒ็กๅญๅŒ–็ณธ็ƒไฝ“ใ‚’ไผดใ†ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ้บไผๅฝขๅผใฏ๏ผŒไธปใจใ—ใฆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™ใŒ๏ผŒๅญค็™บไพ‹ใ‚‚ใ‚ใ‚‹ (1)ใ€‚ๆœซๆœŸ่…Žไธๅ…จ(ESRD)ใซ่‡ณใ‚‹ๆ™‚ๆœŸใซใ‚ˆใ‚Š๏ผŒ3ใคใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใใ‚Œใ‚‰ใฏ๏ผŒ3-5ๆญณ้ ƒใพใงใซESRDใจใชใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒณ็™†(NPH2)๏ผŒๅนผๅฐ‘ๆœŸใ‹ใ‚‰ๅญฆ็ซฅๆœŸใพใงๆฏ”่ผƒ็š„่‹ฅๅนดๆœŸใซ็™บ็—‡ใ—๏ผŒๅนณๅ‡13-14ๆญณใงESRDใซ็งป่กŒใ™ใ‚‹่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†(NPH1)๏ผŒ ๅนณๅ‡ๅนด้ฝข19ๆญณ้ ƒใซESRDใซ่‡ณใ‚‹ๆ€ๆ˜ฅๆœŸใƒใƒ•ใƒญใƒณ็™†(NPH3)ใงใ‚ใ‚Š๏ผŒใชใ‹ใงใ‚‚ๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใŒ่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†ใงใ‚ใ‚‹ใ€‚็พๅœจ๏ผŒใƒใƒ•ใƒญใƒณ็™†ใซใฏ๏ผŒNPHP1๏ฝžNPHP16ใพใงใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒ๏ผŒใ“ใ‚Œใ‚‰ใฎใ„ใšใ‚Œใฎ้บไผๅญใซใ‚‚็•ฐๅธธใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ใ‚‚ใฎใ‚‚ๅฐ‘ใชใ‹ใ‚‰ใšๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใซๅฏพใ™ใ‚‹็‰นๆฎŠใชๆฒป็™‚ๆณ•ใฏใชใ๏ผŒESRDใฏ้ฟใ‘ใ‚‰ใ‚Œใชใ„็Šถๆณใซใ‚ใ‚‹ใ€‚ - 2200140 - + + 26 + ใƒใƒ•ใƒญใƒณ็™†(nephronophthisis: NPH)ใฏ๏ผŒ่…Ž้ซ„่ณชใซๅšข่ƒžๅฝขๆˆใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใงใ‚ใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ็กฌๅŒ–๏ผŒ็กๅญๅŒ–็ณธ็ƒไฝ“ใ‚’ไผดใ†ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ้บไผๅฝขๅผใฏ๏ผŒไธปใจใ—ใฆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™ใŒ๏ผŒๅญค็™บไพ‹ใ‚‚ใ‚ใ‚‹ (1)ใ€‚ๆœซๆœŸ่…Žไธๅ…จ(ESRD)ใซ่‡ณใ‚‹ๆ™‚ๆœŸใซใ‚ˆใ‚Š๏ผŒ3ใคใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใใ‚Œใ‚‰ใฏ๏ผŒ3-5ๆญณ้ ƒใพใงใซESRDใจใชใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒณ็™†(NPH2)๏ผŒๅนผๅฐ‘ๆœŸใ‹ใ‚‰ๅญฆ็ซฅๆœŸใพใงๆฏ”่ผƒ็š„่‹ฅๅนดๆœŸใซ็™บ็—‡ใ—๏ผŒๅนณๅ‡13-14ๆญณใงESRDใซ็งป่กŒใ™ใ‚‹่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†(NPH1)๏ผŒ ๅนณๅ‡ๅนด้ฝข19ๆญณ้ ƒใซESRDใซ่‡ณใ‚‹ๆ€ๆ˜ฅๆœŸใƒใƒ•ใƒญใƒณ็™†(NPH3)ใงใ‚ใ‚Š๏ผŒใชใ‹ใงใ‚‚ๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใŒ่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†ใงใ‚ใ‚‹ใ€‚็พๅœจ๏ผŒใƒใƒ•ใƒญใƒณ็™†ใซใฏ๏ผŒNPHP1๏ฝžNPHP16ใพใงใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒ๏ผŒใ“ใ‚Œใ‚‰ใฎใ„ใšใ‚Œใฎ้บไผๅญใซใ‚‚็•ฐๅธธใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ใ‚‚ใฎใ‚‚ๅฐ‘ใชใ‹ใ‚‰ใšๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใซๅฏพใ™ใ‚‹็‰นๆฎŠใชๆฒป็™‚ๆณ•ใฏใชใ๏ผŒESRDใฏ้ฟใ‘ใ‚‰ใ‚Œใชใ„็Šถๆณใซใ‚ใ‚‹ใ€‚ + NANDO:2200140 + Nephronophthisis + ใญใตใ‚ใ‚“ใ‚ใ† ใƒใƒ•ใƒญใƒณ็™† - + NPH - juvenile nephronophthisis - + juvenile nephronophthisis ใƒใƒ•ใƒญใƒณ็™† - - 12 - ่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœงใฏๅคงๅ‹•่„ˆใ‹ใ‚‰่…Ž่‡“ใธใจใคใชใŒใ‚‹่…Žๅ‹•่„ˆใพใŸใฏใใฎๅˆ†ๆžใŒ้ƒจๅˆ†็š„ใ‚ใ‚‹ใ„ใฏๅฎŒๅ…จใซ้–‰ๅกžใ—ใŸ็ตๆžœ๏ผŒใƒฌใƒ‹ใƒณใƒปใ‚ขใƒณใ‚ธใ‚ชใƒ†ใƒณใ‚ทใƒณ็ณปใŒๅ†—้€ฒใ—ใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹้ซ˜่ก€ๅœงใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸๅ› ใจใ—ใฆๆˆไบบใงใฏๅ‹•่„ˆ็กฌๅŒ–็—‡๏ผˆ็ฒฅ็Šถๅ‹•่„ˆ็กฌๅŒ–๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ๏ผŒๅฐๅ…ใƒป่‹ฅๅนด่€…ใงใฏ็ทš็ถญ็ญ‹็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ„(1, 2)ใ€‚ - 2200141 - + + 12 + ่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœงใฏๅคงๅ‹•่„ˆใ‹ใ‚‰่…Ž่‡“ใธใจใคใชใŒใ‚‹่…Žๅ‹•่„ˆใพใŸใฏใใฎๅˆ†ๆžใŒ้ƒจๅˆ†็š„ใ‚ใ‚‹ใ„ใฏๅฎŒๅ…จใซ้–‰ๅกžใ—ใŸ็ตๆžœ๏ผŒใƒฌใƒ‹ใƒณใƒปใ‚ขใƒณใ‚ธใ‚ชใƒ†ใƒณใ‚ทใƒณ็ณปใŒๅ†—้€ฒใ—ใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹้ซ˜่ก€ๅœงใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸๅ› ใจใ—ใฆๆˆไบบใงใฏๅ‹•่„ˆ็กฌๅŒ–็—‡๏ผˆ็ฒฅ็Šถๅ‹•่„ˆ็กฌๅŒ–๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ๏ผŒๅฐๅ…ใƒป่‹ฅๅนด่€…ใงใฏ็ทš็ถญ็ญ‹็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ„(1, 2)ใ€‚ + NANDO:2200141 + Renovascular hypertension + ใ˜ใ‚“ใ‘ใฃใ‹ใ‚“ใ›ใ„ใ“ใ†ใ‘ใคใ‚ใค ่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง - + ่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง - - 13 - ่…Ž้™่„ˆ่ก€ๆ “็—‡ใฏ๏ผŒ่…Ž้™่„ˆๅ†…ใฎ่ก€ๆ “ๅฝขๆˆใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ - 2200142 - + + 13 + ่…Ž้™่„ˆ่ก€ๆ “็—‡ใฏ๏ผŒ่…Ž้™่„ˆๅ†…ใฎ่ก€ๆ “ๅฝขๆˆใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200142 + Renal vein thrombosis + ใ˜ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ† ่…Ž้™่„ˆ่ก€ๆ “็—‡ - + RVT ่…Ž้™่„ˆ่ก€ๆ “็—‡ - - 14 - ่…Žๅ‹•้™่„ˆ็—ฉใฏๅŽŸๅ› ใซใ‚ˆใ‚‰ใš๏ผŒ่…Žๅ†…ใง้™่„ˆ็ณปใจๅ‹•่„ˆ็ณปใŒ็•ฐๅธธใชไบค้€šใ‚’ใ‚‚ใฃใŸใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹(1)ใ€‚ๆœฌ็—‡ใฏๆฏ”่ผƒ็š„ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็„ก็—‡ๅ€™ใงๆฝœๅœจใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚‚็›ธๅฝ“ๆ•ฐใ‚ใ‚‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎ็–พๆ‚ฃใฎ็ฒพๆŸปใซใฆๆ–ฝ่กŒใ•ใ‚ŒใŸ็”ปๅƒๆคœๆŸปใงๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ - 2200143 - + + 14 + ่…Žๅ‹•้™่„ˆ็—ฉใฏๅŽŸๅ› ใซใ‚ˆใ‚‰ใš๏ผŒ่…Žๅ†…ใง้™่„ˆ็ณปใจๅ‹•่„ˆ็ณปใŒ็•ฐๅธธใชไบค้€šใ‚’ใ‚‚ใฃใŸใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹(1)ใ€‚ๆœฌ็—‡ใฏๆฏ”่ผƒ็š„ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็„ก็—‡ๅ€™ใงๆฝœๅœจใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚‚็›ธๅฝ“ๆ•ฐใ‚ใ‚‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎ็–พๆ‚ฃใฎ็ฒพๆŸปใซใฆๆ–ฝ่กŒใ•ใ‚ŒใŸ็”ปๅƒๆคœๆŸปใงๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ + NANDO:2200143 + Renal arteriovenous fistula + ใ˜ใ‚“ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ† ่…Žๅ‹•้™่„ˆ็˜ป - + ่…Žๅ‹•้™่„ˆ็˜ป - - 16 - ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆrenal tubular acidosis : RTA๏ผ‰ใฏ๏ผŒๅ…ˆๅคฉๆ€งใ‚ใ‚‹ใ„ใฏๅพŒๅคฉๆ€งใฎ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒๅฐฟไธญใธใฎ้…ธๆŽ’ๆณ„ใŒ้šœๅฎณใ•ใ‚Œ๏ผŒ้…ธ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใก้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹RTAใŒ้ ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(distal RTA๏ผšdRTA๏ผŒIๅž‹RTA)๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹RTAใŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(proximal RTA๏ผšpRTA๏ผŒIIๅž‹RTA)๏ผŒ้ ไฝๅฐฟ็ดฐ็ฎกใงใฎๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆฑ ้šœๅฎณใจ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ้šœๅฎณใ‚’ๅˆไฝตใ—ใŸ็Šถๆ…‹ใ‚’hybrid RTA(IIIๅž‹RTA)๏ผŒใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏไฝœ็”จไธๅ…จใซใ‚ˆใ‚Š้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Kใจๆฐด็ด ใ‚คใ‚ชใƒณใฎๆŽ’ๆฑ ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚’้ซ˜K่ก€ๆ€งdRTA(hyper K dRTA๏ผŒIVๅž‹RTA)ใจใ‚ˆใถใ€‚ใŸใ ใ—๏ผŒIIIๅž‹ใฏไนณๅนผๅ…ใซๅคšใใฟใ‚‰ใ‚Œใ‚‹Iๅž‹RTAใฎ้‡็—‡ๅž‹ใจใ•ใ‚Œ๏ผŒ็พๅœจใงใฏ็”จใ„ใ‚‰ใ‚Œใฆใ„ใชใ„ใ€‚ - 2200144 - + + 16 + ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆrenal tubular acidosis : RTA๏ผ‰ใฏ๏ผŒๅ…ˆๅคฉๆ€งใ‚ใ‚‹ใ„ใฏๅพŒๅคฉๆ€งใฎ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒๅฐฟไธญใธใฎ้…ธๆŽ’ๆณ„ใŒ้šœๅฎณใ•ใ‚Œ๏ผŒ้…ธ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใก้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹RTAใŒ้ ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(distal RTA๏ผšdRTA๏ผŒIๅž‹RTA)๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹RTAใŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(proximal RTA๏ผšpRTA๏ผŒIIๅž‹RTA)๏ผŒ้ ไฝๅฐฟ็ดฐ็ฎกใงใฎๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆฑ ้šœๅฎณใจ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ้šœๅฎณใ‚’ๅˆไฝตใ—ใŸ็Šถๆ…‹ใ‚’hybrid RTA(IIIๅž‹RTA)๏ผŒใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏไฝœ็”จไธๅ…จใซใ‚ˆใ‚Š้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Kใจๆฐด็ด ใ‚คใ‚ชใƒณใฎๆŽ’ๆฑ ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚’้ซ˜K่ก€ๆ€งdRTA(hyper K dRTA๏ผŒIVๅž‹RTA)ใจใ‚ˆใถใ€‚ใŸใ ใ—๏ผŒIIIๅž‹ใฏไนณๅนผๅ…ใซๅคšใใฟใ‚‰ใ‚Œใ‚‹Iๅž‹RTAใฎ้‡็—‡ๅž‹ใจใ•ใ‚Œ๏ผŒ็พๅœจใงใฏ็”จใ„ใ‚‰ใ‚Œใฆใ„ใชใ„ใ€‚ + NANDO:2200144 + Renal tubular acidosis + ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ›ใ„ใ‚ใ—ใฉใƒผใ—ใ™ ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น - + RTA ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 4 - Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚ - 2200145 - - Gitelman Bartter syndrome + + 4 + Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚ + NANDO:2200145 + + Gitelman syndrome + ใŽใฃใฆใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค + - + Gitelman็—‡ๅ€™็พค + ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค - - 27 - Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚ - 2200146 - - Bartter Gitelman syndrome + + 27 + Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚ + NANDO:2200146 + + Bartter syndrome + ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค - + Bartter็—‡ๅ€™็พค + ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค - - 15 - ๅฐฟ่ทฏใซ็ต็ŸณใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ๅฐฟ่ทฏ็ต็Ÿณ็—‡ใจใ„ใ„๏ผŒ่…Ž๏ฝžๅฐฟ็ฎกๅ†…ใซ็”Ÿใ˜ใ‚‹ไธŠ้ƒจๅฐฟ่ทฏ็ต็Ÿณใจ๏ผŒ่†€่ƒฑ๏ฝžๅฐฟ้“ใซ็”Ÿใ˜ใ‚‹ไธ‹้ƒจๅฐฟ่ทฏ็ต็ŸณใจใซๅŒบๅˆฅใ™ใ‚‹ใ€‚ๅฐๅ…ใฎๅฐฟ่ทฏ็ต็ŸณใฏๆˆไบบใจๅŒๆง˜ใซไธŠ้ƒจๅฐฟ่ทฏใŒๅคšใ„ใŒ๏ผŒ้ ปๅบฆใฏไฝŽใๅ…จๅฐฟ่ทฏ็ต็Ÿณๆ‚ฃ่€…ใฎ1๏ผ…ใฎ็™บ็—‡็Ž‡ใงใ‚ใ‚‹(1)ใ€‚ๆ€งๅทฎใฏใฟใ‚‰ใ‚Œใš๏ผŒใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)็ต็Ÿณใ‚„ๆ„ŸๆŸ“็ต็Ÿณใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ใพใŸ๏ผŒไปฃ่ฌ็•ฐๅธธใ‚„ๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 2200147 - + + 15 + ๅฐฟ่ทฏใซ็ต็ŸณใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ๅฐฟ่ทฏ็ต็Ÿณ็—‡ใจใ„ใ„๏ผŒ่…Ž๏ฝžๅฐฟ็ฎกๅ†…ใซ็”Ÿใ˜ใ‚‹ไธŠ้ƒจๅฐฟ่ทฏ็ต็Ÿณใจ๏ผŒ่†€่ƒฑ๏ฝžๅฐฟ้“ใซ็”Ÿใ˜ใ‚‹ไธ‹้ƒจๅฐฟ่ทฏ็ต็ŸณใจใซๅŒบๅˆฅใ™ใ‚‹ใ€‚ๅฐๅ…ใฎๅฐฟ่ทฏ็ต็ŸณใฏๆˆไบบใจๅŒๆง˜ใซไธŠ้ƒจๅฐฟ่ทฏใŒๅคšใ„ใŒ๏ผŒ้ ปๅบฆใฏไฝŽใๅ…จๅฐฟ่ทฏ็ต็Ÿณๆ‚ฃ่€…ใฎ1๏ผ…ใฎ็™บ็—‡็Ž‡ใงใ‚ใ‚‹(1)ใ€‚ๆ€งๅทฎใฏใฟใ‚‰ใ‚Œใš๏ผŒใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)็ต็Ÿณใ‚„ๆ„ŸๆŸ“็ต็Ÿณใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ใพใŸ๏ผŒไปฃ่ฌ็•ฐๅธธใ‚„ๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:2200147 + Nephro- and urolithiasis + ใ˜ใ‚“ใซใ‚‡ใ†ใ‹ใ‚“ใ‘ใฃใ›ใ ่…Žๅฐฟ็ฎก็ต็Ÿณ - + + Nephro-urolithiasis ่…Žๅฐฟ็ฎก็ต็Ÿณ - - 46 - ่…Ž่…ซ็˜ใฏ่…ŽๅฎŸ่ณชใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚Š๏ผŒ่…ŽๅฎŸ่ณชใ‚’ๆง‹ๆˆใ™ใ‚‹ๆˆๅˆ†ใงใ‚ใ‚‹ๅฐฟ็ดฐ็ฎกใ‚„้›†ๅˆ็ฎกใชใฉใฎไธŠ็šฎใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€ง่…ซ็˜ใจ๏ผŒๅนณๆป‘็ญ‹ใ‚„่„‚่‚ชใชใฉ้žไธŠ็šฎๆ€งๆˆๅˆ†ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹้žไธŠ็šฎๆ€ง่…ซ็˜ใŠใ‚ˆใณไธŠ็šฎๆ€งๆˆๅˆ†ใจ้žไธŠ็šฎๆ€งๆˆๅˆ†ใฎๆททๅœจใ™ใ‚‹ใใฎไป–ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใฟใ‚‰ใ‚Œใ‚‹่…Ž่…ซ็˜ใฎ็ด„90๏ผ…ใฏ๏ผŒไธŠ็šฎๆˆๅˆ†ใจ้žไธŠ็šฎๆˆๅˆ†ใŒๆททๅœจใ™ใ‚‹่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใงใ‚ใ‚‹ใ€‚ใ€€่…ซ็˜ใฎๅข—ๅคงใซใ‚ˆใ‚‹่…ŽๅฎŸ่ณชใฎ็›ดๆŽฅ็š„ใชไพต่ฅฒใฎใฟใชใ‚‰ใš๏ผŒๆฒป็™‚ใจใ—ใฆใŠใ“ใชใ†่…ซ็˜ๆ‘˜ๅ‡บใ‚„่…Žๅ…จๆ‘˜่ก“๏ผŒๅŒ–ๅญฆ็™‚ๆณ•๏ผŒๆ”พๅฐ„็ทš็™‚ๆณ•ใชใฉใฎๆฒป็™‚ใŒ่…ŽๆฉŸ่ƒฝใฎๅ–ชๅคฑใ‚„ๆ…ขๆ€ง่…Žไธๅ…จใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ - 2200148 - + + 46 + ่…Ž่…ซ็˜ใฏ่…ŽๅฎŸ่ณชใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚Š๏ผŒ่…ŽๅฎŸ่ณชใ‚’ๆง‹ๆˆใ™ใ‚‹ๆˆๅˆ†ใงใ‚ใ‚‹ๅฐฟ็ดฐ็ฎกใ‚„้›†ๅˆ็ฎกใชใฉใฎไธŠ็šฎใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€ง่…ซ็˜ใจ๏ผŒๅนณๆป‘็ญ‹ใ‚„่„‚่‚ชใชใฉ้žไธŠ็šฎๆ€งๆˆๅˆ†ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹้žไธŠ็šฎๆ€ง่…ซ็˜ใŠใ‚ˆใณไธŠ็šฎๆ€งๆˆๅˆ†ใจ้žไธŠ็šฎๆ€งๆˆๅˆ†ใฎๆททๅœจใ™ใ‚‹ใใฎไป–ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใฟใ‚‰ใ‚Œใ‚‹่…Ž่…ซ็˜ใฎ็ด„90๏ผ…ใฏ๏ผŒไธŠ็šฎๆˆๅˆ†ใจ้žไธŠ็šฎๆˆๅˆ†ใŒๆททๅœจใ™ใ‚‹่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใงใ‚ใ‚‹ใ€‚ใ€€่…ซ็˜ใฎๅข—ๅคงใซใ‚ˆใ‚‹่…ŽๅฎŸ่ณชใฎ็›ดๆŽฅ็š„ใชไพต่ฅฒใฎใฟใชใ‚‰ใš๏ผŒๆฒป็™‚ใจใ—ใฆใŠใ“ใชใ†่…ซ็˜ๆ‘˜ๅ‡บใ‚„่…Žๅ…จๆ‘˜่ก“๏ผŒๅŒ–ๅญฆ็™‚ๆณ•๏ผŒๆ”พๅฐ„็ทš็™‚ๆณ•ใชใฉใฎๆฒป็™‚ใŒ่…ŽๆฉŸ่ƒฝใฎๅ–ชๅคฑใ‚„ๆ…ขๆ€ง่…Žไธๅ…จใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ + NANDO:2200148 + Chronic renal failure due to renal tumour + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใ˜ใ‚“ใ—ใ‚…ใ‚ˆใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - + + ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 45 - ๆ€ฅๆ€ง่…Žไธๅ…จ(acute renal failure: ARF)ใฏ๏ผŒ่ก€ๆธ…ใ‚ฏใƒฌใ‚กใƒใƒ‹ใƒณ(Cr)ๅ€คใ‚„่ก€ๆถฒๅฐฟ็ด ็ช’็ด (BUN)ๅ€คใฎไธŠๆ˜‡ใง็คบใ•ใ‚Œใ‚‹่…ŽๆฉŸ่ƒฝใฎๆ€ฅ้€ŸใชไฝŽไธ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚‚ใฎใง๏ผŒ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆใฏ๏ผŒๆ•ฐๆ—ฅใ‹ใ‚‰ๆ•ฐ้€ฑ้–“ใฎ็ตŒ้Žใง๏ผŒๆ€ฅ้€Ÿใซ่…ŽๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ใฆ่›‹็™ฝใฎๆœ€็ต‚็”ฃ็‰ฉใ‚’ใฏใ˜ใ‚ใจใ—ใŸ่€ๅปƒ็‰ฉใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใŸ็ตๆžœ๏ผŒ้ซ˜็ช’็ด ่ก€็—‡๏ผŒๆบขๆฐดใƒป้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใชใฉใฎๆฐด้›ป่งฃ่ณช็•ฐๅธธ๏ผŒไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎ้…ธๅกฉๅŸบๅนณ่กกใฎ้šœๅฎณใŒๅ‡บ็พใ™ใ‚‹็—‡ๅ€™็พคใจใ•ใ‚ŒใฆใใŸใ€‚ARFใฎ่จบๆ–ญๅŸบๆบ–ใจใ—ใฆใฏ๏ผŒใ€Œโ‘ ่ก€ๆธ…Crๅ€คใŒ2.0๏ฝž2.5mg/dLไปฅไธŠใซๆ€ฅ้€ŸใซไธŠๆ˜‡๏ผŒโ‘กๅŸบ็คŽใซ่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ๏ผŒ่ก€ๆธ…Crๅ€คใŒๅ‰ๅ€คใฎ50%ไปฅไธŠไธŠๆ˜‡๏ผŒโ‘ข่ก€ๆธ…Crๅ€คใŒ0.5mg/dL/ๆ—ฅ๏ผŒใ‚‚ใ—ใใฏBUNใŒ10mg/dL/ๆ—ฅไปฅไธŠใฎ้€ŸๅบฆใงไธŠๆ˜‡๏ผŒใฎใ„ใšใ‚Œใ‹ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ‚‚ใฎใ€ใจ็คบใ•ใ‚ŒใฆใใŸ(1)ใ€‚ใ—ใ‹ใ—๏ผŒARFใงใฏ๏ผŒ่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใฎ็จ‹ๅบฆใ‚„้€Ÿๅบฆใซใคใ„ใฆใฎไธ–็•Œๆจ™ๆบ–ใฎ่จบๆ–ญๅŸบๆบ–ใฏ๏ผŒใ“ใ‚Œใพใง็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ‹ใฃใŸใ€‚ใใฎใŸใ‚๏ผŒARFใฎๆญปไบก็Ž‡ใŒๆธ›ๅฐ‘ใ›ใš๏ผŒ50%ไปฅไธŠใฎ็Šถๆ…‹ใŒ็ถšใ„ใฆใ„ใŸใ€‚ARFใฎ้ซ˜ใ„ๆญปไบก็Ž‡ใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซใฏ๏ผŒ่จบๆ–ญๅŸบๆบ–ใ‚’ไธ–็•Œ็š„ใซ็ตฑไธ€ใ—๏ผŒใ‚จใƒ“ใƒ‡ใƒณใ‚นใ‚’ๅ…ฑๆœ‰ใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ๏ผŒๅพ“ๆฅ่‡จๅบŠไธŠใปใจใ‚“ใฉๅ•้กŒ่ฆ–ใ•ใ‚Œใชใ‹ใฃใŸใ‚ใšใ‹ใช่ก€ๆธ…Crๅ€คใฎไธŠๆ˜‡ใŒ๏ผŒๆ‚ฃ่€…ใฎๆญปไบกใซๅคงใใๅฏ„ไธŽใ™ใ‚‹ใ“ใจใŒใƒกใ‚ฟใ‚ขใƒŠใƒชใ‚ทใ‚นใงใ‚‚ๆคœ่จผใ•ใ‚Œ๏ผŒใ“ใ‚ŒใพใงARFใซ้™ฅใฃใฆใ‹ใ‚‰่ก€ๆถฒๆต„ๅŒ–็™‚ๆณ•ใ‚’่กŒใ†ๅฏพ่ฑกใ‚’๏ผŒ็”Ÿๅ‘ฝไบˆๅพŒใซ็›ดๆŽฅๅฝฑ้Ÿฟใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใจใ—ใฆ๏ผŒใ‚ˆใ‚Šๆ—ฉๆœŸใ‚ใ‚‹ใ„ใฏ่ปฝ็—‡ใฎๆฎต้šŽใ‹ใ‚‰๏ผŒ็ฉๆฅต็š„ใซ่จบๆ–ญใƒปๆฒป็™‚ไป‹ๅ…ฅใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใจใชใ‚Š๏ผŒๅพ“ๆฅใฎARFใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury:AKI)ใธ๏ผŒใ‚ˆใ‚ŠๅŒ…ๆ‹ฌ็š„ใซๆ€ฅๆฟ€ใช่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ใใŸใ™็—…ๆ…‹ใŒๆๅ”ฑใ•ใ‚Œใ‚‹ใซ่‡ณใฃใŸใ€‚ใ€€ใ—ใ‹ใ—๏ผŒๅฐๅ…AKIใฎๆญปไบก็Ž‡ใฏ๏ผŒ่ฟ‘ๅนดใฎ่…Žไปฃๆ›ฟ็™‚ๆณ•ใฎ้€ฒๆญฉใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ35๏ฝž73%ใจไธ่‰ฏใงใ‚ใ‚‹ใ€‚็‰นใซ๏ผŒๆ•—่ก€็—‡ๅˆไฝตไพ‹๏ผŒๅฟƒ็–พๆ‚ฃๆ‰‹่ก“ไพ‹๏ผŒๆ‚ชๆ€ง่…ซ็˜ๅˆไฝตไพ‹๏ผŒใใ—ใฆๅคš่‡“ๅ™จไธๅ…จไพ‹ใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒAKIใ‹ใ‚‰ๅ›žๅพฉใ—ใฆใ‚‚CKDใซ็งป่กŒใ™ใ‚‹็ขบ็Ž‡ใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใพใงใฎๅ ฑๅ‘Šใง40๏ฝž60%ใซ้”ใ™ใ‚‹ใ€‚ - 2200149 - + + 45 + ๆ€ฅๆ€ง่…Žไธๅ…จ(acute renal failure: ARF)ใฏ๏ผŒ่ก€ๆธ…ใ‚ฏใƒฌใ‚กใƒใƒ‹ใƒณ(Cr)ๅ€คใ‚„่ก€ๆถฒๅฐฟ็ด ็ช’็ด (BUN)ๅ€คใฎไธŠๆ˜‡ใง็คบใ•ใ‚Œใ‚‹่…ŽๆฉŸ่ƒฝใฎๆ€ฅ้€ŸใชไฝŽไธ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚‚ใฎใง๏ผŒ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆใฏ๏ผŒๆ•ฐๆ—ฅใ‹ใ‚‰ๆ•ฐ้€ฑ้–“ใฎ็ตŒ้Žใง๏ผŒๆ€ฅ้€Ÿใซ่…ŽๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ใฆ่›‹็™ฝใฎๆœ€็ต‚็”ฃ็‰ฉใ‚’ใฏใ˜ใ‚ใจใ—ใŸ่€ๅปƒ็‰ฉใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใŸ็ตๆžœ๏ผŒ้ซ˜็ช’็ด ่ก€็—‡๏ผŒๆบขๆฐดใƒป้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใชใฉใฎๆฐด้›ป่งฃ่ณช็•ฐๅธธ๏ผŒไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎ้…ธๅกฉๅŸบๅนณ่กกใฎ้šœๅฎณใŒๅ‡บ็พใ™ใ‚‹็—‡ๅ€™็พคใจใ•ใ‚ŒใฆใใŸใ€‚ARFใฎ่จบๆ–ญๅŸบๆบ–ใจใ—ใฆใฏ๏ผŒใ€Œโ‘ ่ก€ๆธ…Crๅ€คใŒ2.0๏ฝž2.5mg/dLไปฅไธŠใซๆ€ฅ้€ŸใซไธŠๆ˜‡๏ผŒโ‘กๅŸบ็คŽใซ่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ๏ผŒ่ก€ๆธ…Crๅ€คใŒๅ‰ๅ€คใฎ50%ไปฅไธŠไธŠๆ˜‡๏ผŒโ‘ข่ก€ๆธ…Crๅ€คใŒ0.5mg/dL/ๆ—ฅ๏ผŒใ‚‚ใ—ใใฏBUNใŒ10mg/dL/ๆ—ฅไปฅไธŠใฎ้€ŸๅบฆใงไธŠๆ˜‡๏ผŒใฎใ„ใšใ‚Œใ‹ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ‚‚ใฎใ€ใจ็คบใ•ใ‚ŒใฆใใŸ(1)ใ€‚ใ—ใ‹ใ—๏ผŒARFใงใฏ๏ผŒ่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใฎ็จ‹ๅบฆใ‚„้€Ÿๅบฆใซใคใ„ใฆใฎไธ–็•Œๆจ™ๆบ–ใฎ่จบๆ–ญๅŸบๆบ–ใฏ๏ผŒใ“ใ‚Œใพใง็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ‹ใฃใŸใ€‚ใใฎใŸใ‚๏ผŒARFใฎๆญปไบก็Ž‡ใŒๆธ›ๅฐ‘ใ›ใš๏ผŒ50%ไปฅไธŠใฎ็Šถๆ…‹ใŒ็ถšใ„ใฆใ„ใŸใ€‚ARFใฎ้ซ˜ใ„ๆญปไบก็Ž‡ใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซใฏ๏ผŒ่จบๆ–ญๅŸบๆบ–ใ‚’ไธ–็•Œ็š„ใซ็ตฑไธ€ใ—๏ผŒใ‚จใƒ“ใƒ‡ใƒณใ‚นใ‚’ๅ…ฑๆœ‰ใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ๏ผŒๅพ“ๆฅ่‡จๅบŠไธŠใปใจใ‚“ใฉๅ•้กŒ่ฆ–ใ•ใ‚Œใชใ‹ใฃใŸใ‚ใšใ‹ใช่ก€ๆธ…Crๅ€คใฎไธŠๆ˜‡ใŒ๏ผŒๆ‚ฃ่€…ใฎๆญปไบกใซๅคงใใๅฏ„ไธŽใ™ใ‚‹ใ“ใจใŒใƒกใ‚ฟใ‚ขใƒŠใƒชใ‚ทใ‚นใงใ‚‚ๆคœ่จผใ•ใ‚Œ๏ผŒใ“ใ‚ŒใพใงARFใซ้™ฅใฃใฆใ‹ใ‚‰่ก€ๆถฒๆต„ๅŒ–็™‚ๆณ•ใ‚’่กŒใ†ๅฏพ่ฑกใ‚’๏ผŒ็”Ÿๅ‘ฝไบˆๅพŒใซ็›ดๆŽฅๅฝฑ้Ÿฟใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใจใ—ใฆ๏ผŒใ‚ˆใ‚Šๆ—ฉๆœŸใ‚ใ‚‹ใ„ใฏ่ปฝ็—‡ใฎๆฎต้šŽใ‹ใ‚‰๏ผŒ็ฉๆฅต็š„ใซ่จบๆ–ญใƒปๆฒป็™‚ไป‹ๅ…ฅใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใจใชใ‚Š๏ผŒๅพ“ๆฅใฎARFใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury:AKI)ใธ๏ผŒใ‚ˆใ‚ŠๅŒ…ๆ‹ฌ็š„ใซๆ€ฅๆฟ€ใช่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ใใŸใ™็—…ๆ…‹ใŒๆๅ”ฑใ•ใ‚Œใ‚‹ใซ่‡ณใฃใŸใ€‚ใ€€ใ—ใ‹ใ—๏ผŒๅฐๅ…AKIใฎๆญปไบก็Ž‡ใฏ๏ผŒ่ฟ‘ๅนดใฎ่…Žไปฃๆ›ฟ็™‚ๆณ•ใฎ้€ฒๆญฉใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ35๏ฝž73%ใจไธ่‰ฏใงใ‚ใ‚‹ใ€‚็‰นใซ๏ผŒๆ•—่ก€็—‡ๅˆไฝตไพ‹๏ผŒๅฟƒ็–พๆ‚ฃๆ‰‹่ก“ไพ‹๏ผŒๆ‚ชๆ€ง่…ซ็˜ๅˆไฝตไพ‹๏ผŒใใ—ใฆๅคš่‡“ๅ™จไธๅ…จไพ‹ใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒAKIใ‹ใ‚‰ๅ›žๅพฉใ—ใฆใ‚‚CKDใซ็งป่กŒใ™ใ‚‹็ขบ็Ž‡ใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใพใงใฎๅ ฑๅ‘Šใง40๏ฝž60%ใซ้”ใ™ใ‚‹ใ€‚ + NANDO:2200149 + Chronic renal failure due to acute tubular necrosis or renal ischemias + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใใ‚…ใ†ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใˆใ—ใพใŸใฏใ˜ใ‚“ใใ‚‡ใ‘ใคใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - + + Chronic renal failure due to acute tubular necrosis or renal ischaemias ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 45 - 2200150 - + + 45 + NANDO:2200150 + Chronic renal failure due to acute tubular necrosis + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใใ‚…ใ†ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใˆใ—ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - + + ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 45 - 2200151 - + + 45 + NANDO:2200151 + Chronic renal failure due to renal ischemias + ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใ˜ใ‚“ใใ‚‡ใ‘ใคใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - + + Chronic renal failure due to renal ischaemias + ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 8 - ่…Žใฎ็•ฐๅฝขๆˆใ‚’ไผดใ‚ใชใ„ไธกๅดๆ€งใณใพใ‚“ๆ€งๅšข่ƒžๅฝขๆˆใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง่…Ž็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผˆADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผˆARPKD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใฉใกใ‚‰ใ‚‚็–พๆ‚ฃ่‡ชไฝ“ใซๅฏพใ™ใ‚‹ๆฒป็™‚ๆณ•ใฏใชใ๏ผŒ่…Žไธๅ…จใฎๆฒป็™‚ใ‚„ๅˆไฝต็—‡ๆฒป็™‚๏ผŒๅฏพ็—‡็™‚ๆณ•ใŒไธปไฝ“ใจใชใ‚‹ใ€‚ - 2200152 - + + 8 + ่…Žใฎ็•ฐๅฝขๆˆใ‚’ไผดใ‚ใชใ„ไธกๅดๆ€งใณใพใ‚“ๆ€งๅšข่ƒžๅฝขๆˆใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง่…Ž็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผˆADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผˆARPKD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใฉใกใ‚‰ใ‚‚็–พๆ‚ฃ่‡ชไฝ“ใซๅฏพใ™ใ‚‹ๆฒป็™‚ๆณ•ใฏใชใ๏ผŒ่…Žไธๅ…จใฎๆฒป็™‚ใ‚„ๅˆไฝต็—‡ๆฒป็™‚๏ผŒๅฏพ็—‡็™‚ๆณ•ใŒไธปไฝ“ใจใชใ‚‹ใ€‚ + NANDO:2200152 + Polycystic kidney disease + ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“ ๅคš็™บๆ€งๅšข่ƒž่…Ž - + - + PKD + Polycystic kidney ๅคš็™บๆ€งๅšข่ƒž่…Ž - - 9 - 2200153 - - Autosomal dominant PKD - ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคšๅšข่ƒž่…Ž - - + + 8 + NANDO:2200153 + + Autosomal dominant polycystic kidney disease + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“ + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž + + + ADPKD + Autosomal dominant PKD - ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคšๅšข่ƒž่…Ž - - - 6 - 2200154 - - Autosomal recessive PKD - ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคšๅšข่ƒž่…Ž - - - + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž + + + 8 + NANDO:2200154 + + Autosomal recessive polycystic kidney disease + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“ + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž + + + ARPKD - ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคšๅšข่ƒž่…Ž + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž - - 10 - ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚ - 2200155 - + + 10 + ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚ + NANDO:2200155 + Hypoplastic kidney + ใฆใ„ใ‘ใ„ใ›ใ„ใ˜ใ‚“ ไฝŽๅฝขๆˆ่…Ž - + + ไฝŽๅฝขๆˆ่…Ž - - 7 - ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž(multicystic dysplastic kidney๏ผšMCDK)ใฏ๏ผŒๅšข่ƒžๅฝขๆˆใ‚’ไธปไฝ“ใจใ™ใ‚‹็•ฐๅฝขๆˆ่…Žใงใ‚ใ‚‹ใ€‚็•ฐๅฝขๆˆ่…Žใจใฏ๏ผŒๅพŒ่…Ž้–“่‘‰็ต„็น”ใ‚„ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅŒ–ใŒ็•ฐๅธธใงไธๅฎŒๅ…จใชใ‚‚ใฎใ‚’ๆŒ‡ใ—๏ผŒ็ทš็ถญ็ญ‹็ต„็น”ใŒprimitive duct (ๅŽŸๅง‹้›†ๅˆ็ฎก)ใ‚’ๅ–ใ‚Šๅทปใใจใ„ใ†๏ผŒ็‰นๅพด็š„ใช็ต„็น”ๅƒใซๅŸบใฅใ„ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚MCDKใงใฏ๏ผŒๅคงๅฐๆง˜ใ€…ใชๅšข่ƒžใŒๅคšๆ•ฐๅญ˜ๅœจใ—๏ผŒๅšข่ƒž้–“ใซ็•ฐๅฝขๆˆ็ต„็น”ใŒใ‚ใšใ‹ใซไป‹ๅœจใ™ใ‚‹ใฎใฟใง๏ผŒๅŸบๆœฌ็š„ใซ็„กๆฉŸ่ƒฝ่…Žใงใ‚ใ‚‹(1)ใ€‚ๆญฃๅธธใช่…Ž็›‚ใฏๅฝขๆˆใ•ใ‚Œใš๏ผŒๅฐฟ็ฎกใ‚‚่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‹้–‰ๅกžใ—ใฆใ„ใ‚‹ใ€‚ๅšข่ƒžใฏ่‡ช็„ถใซ้€€็ธฎใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้€šๅธธ็‰‡ๅดๆ€งใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใŒ๏ผŒไธกๅดๆ€งใซใ‚‚็”Ÿใ˜๏ผŒใใฎๅ ดๅˆPotter็—‡ๅ€™็พคใจใชใ‚Š่‡ดๆญป็š„ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ใ‚จใ‚ณใƒผใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ไพ‹ใŒๅคšใ๏ผŒ้ ปๅบฆใฏๅ‡บ็”Ÿ4300ไพ‹ใซ1ไพ‹ใจๅ…ˆๅคฉๆ€ง่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใฎไธญใงใฏ้ ปๅบฆใŒ้ซ˜ใ„(2)ใ€‚ๅทฆๅดใซๅคšใ๏ผŒ็”ทๅ…ใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๅคงใใชๅทฎใฏใชใ„ใ€‚ - 2200156 - + + 7 + ่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใฎไฝ•ใ‚‰ใ‹ใฎ่ฆๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŒไธ€ๅดใพใŸใฏไธกๅดใฎ่…Ž็ต„็น”ใ‚’่ชใ‚ใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚็‰‡ๅด็„กๅฝขๆˆใฏใŠใ‚ˆใๅ‡บ็”Ÿ1000ใซๅฏพใ—ไธ€ไบบใฎๅ‰ฒๅˆใงใ€ๆฐ—ใฅใ‹ใšใซๅนผใƒปๅฐ‘ๅ…ๆœŸใ€ใ•ใ‚‰ใซๆˆไบบใซใชใฃใฆใ‚‚็Ÿฅใ‚‰ใšใซ้Žใ”ใ™ใ“ใจใ‚‚ใ‚ใ‚‹. + NANDO:2200156 + Renal aplasia + ใ˜ใ‚“ใ‚€ใ‘ใ„ใ›ใ„ ่…Ž็„กๅฝขๆˆ - - - + + - ่…Ž็„กๅฝขๆˆ - - 5 - ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ - 2200157 - + + 5 + ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚ + NANDO:2200157 + Potter syndrome + ใฝใฃใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค - - + + Potter sequence Potter็—‡ๅ€™็พค ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค - - 5 - ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ - 2200158 - + + 5 + ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž(multicystic dysplastic kidney๏ผšMCDK)ใฏ๏ผŒๅšข่ƒžๅฝขๆˆใ‚’ไธปไฝ“ใจใ™ใ‚‹็•ฐๅฝขๆˆ่…Žใงใ‚ใ‚‹ใ€‚็•ฐๅฝขๆˆ่…Žใจใฏ๏ผŒๅพŒ่…Ž้–“่‘‰็ต„็น”ใ‚„ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅŒ–ใŒ็•ฐๅธธใงไธๅฎŒๅ…จใชใ‚‚ใฎใ‚’ๆŒ‡ใ—๏ผŒ็ทš็ถญ็ญ‹็ต„็น”ใŒprimitive duct (ๅŽŸๅง‹้›†ๅˆ็ฎก)ใ‚’ๅ–ใ‚Šๅทปใใจใ„ใ†๏ผŒ็‰นๅพด็š„ใช็ต„็น”ๅƒใซๅŸบใฅใ„ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚MCDKใงใฏ๏ผŒๅคงๅฐๆง˜ใ€…ใชๅšข่ƒžใŒๅคšๆ•ฐๅญ˜ๅœจใ—๏ผŒๅšข่ƒž้–“ใซ็•ฐๅฝขๆˆ็ต„็น”ใŒใ‚ใšใ‹ใซไป‹ๅœจใ™ใ‚‹ใฎใฟใง๏ผŒๅŸบๆœฌ็š„ใซ็„กๆฉŸ่ƒฝ่…Žใงใ‚ใ‚‹(1)ใ€‚ๆญฃๅธธใช่…Ž็›‚ใฏๅฝขๆˆใ•ใ‚Œใš๏ผŒๅฐฟ็ฎกใ‚‚่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‹้–‰ๅกžใ—ใฆใ„ใ‚‹ใ€‚ๅšข่ƒžใฏ่‡ช็„ถใซ้€€็ธฎใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้€šๅธธ็‰‡ๅดๆ€งใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใŒ๏ผŒไธกๅดๆ€งใซใ‚‚็”Ÿใ˜๏ผŒใใฎๅ ดๅˆPotter็—‡ๅ€™็พคใจใชใ‚Š่‡ดๆญป็š„ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ใ‚จใ‚ณใƒผใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ไพ‹ใŒๅคšใ๏ผŒ้ ปๅบฆใฏๅ‡บ็”Ÿ4300ไพ‹ใซ1ไพ‹ใจๅ…ˆๅคฉๆ€ง่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใฎไธญใงใฏ้ ปๅบฆใŒ้ซ˜ใ„(2)ใ€‚ๅทฆๅดใซๅคšใ๏ผŒ็”ทๅ…ใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๅคงใใชๅทฎใฏใชใ„ใ€‚ + NANDO:2200158 + Multicystic dysplastic kidney + ใŸใฎใ†ใปใ†ใ›ใ„ใ„ใ‘ใ„ใ›ใ„ใ˜ใ‚“ ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž - - + + MCDK ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž - - 5 - ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ - 2200159 - + + 5 + ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ + NANDO:2200159 + Oligomeganephronia + ใ‹ใใ‚‡ใ ใ„ใ—ใใ‚…ใ†ใŸใ„ใ—ใ‚‡ใ† ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡ - + ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡ - - 11 - ่…Žๅฅ‡ๅฝขใฏ้บไผๆ€ง๏ผŒ้ž้บไผๆ€งใซ่…Žใฎ็™บ็”Ÿๆฎต้šŽใง็”Ÿใ˜ใ‚‹็•ฐๅธธใงใ‚ใ‚Šไปฅไธ‹ใฎใ‚ˆใ†ใชใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ - 2200160 - + + 11 + ่…Žๅฅ‡ๅฝขใฏ้บไผๆ€ง๏ผŒ้ž้บไผๆ€งใซ่…Žใฎ็™บ็”Ÿๆฎต้šŽใง็”Ÿใ˜ใ‚‹็•ฐๅธธใงใ‚ใ‚Šไปฅไธ‹ใฎใ‚ˆใ†ใชใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ + NANDO:2200160 + + 36ใ‹ใ‚‰41ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚“ใใ‘ใ„ 36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข Other renal malformations - + 36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข - - 11 - 2200161 - + + 11 + NANDO:2200161 + renal dysplasia + ใ˜ใ‚“ใ„ใ‘ใ„ใ›ใ„ ่…Ž็•ฐๅฝขๆˆ - + ่…Ž็•ฐๅฝขๆˆ - - 11 - 2200162 - + + 11 + NANDO:2200162 + Supernumerary kidney + ใ‹ใ˜ใ‚‡ใ†ใ˜ใ‚“ ้Žๅ‰ฐ่…Ž - + ้Žๅ‰ฐ่…Ž - - 11 - 2200163 - + + 11 + NANDO:2200163 + Pelvic kidney + ใ“ใคใฐใ‚“ใ˜ใ‚“ ้ชจ็›ค่…Ž - + Ectopic pelvic kidney ้ชจ็›ค่…Ž - - 11 - 2200164 - - crossed renal ectopia without fusion + + 11 + NANDO:2200164 + + crossed renal ectopia + ใ“ใ†ใ•ใ›ใ„ใธใ‚“ใ„ใ˜ใ‚“ ไบคๅทฎๆ€งๅค‰ไฝ่…Ž - + + crossed renal ectopia without fusion ้ž่žๅˆๆ€งไบคๅ‰ๆ€ง่…Žๅค‰ไฝ ไบคๅทฎๆ€งๅค‰ไฝ่…Ž - - 11 - 2200165 - + + 11 + NANDO:2200165 + lumber ectopic kidney + ใ‚ˆใ†ใถใธใ‚“ใ„ใ˜ใ‚“ ่…ฐ้ƒจๅค‰ไฝ่…Ž - - lumber kidney + + lumber kidney ่…ฐ้ƒจๅค‰ไฝ่…Ž - - 11 - 2200166 - - throacic kidney + + 11 + NANDO:2200166 + + Throacic kidney + ใใ‚‡ใ†ใถใ˜ใ‚“ ่ƒธ้ƒจ่…Ž - + ่ƒธ้ƒจ่…Ž - - 11 - 2200167 - + + 11 + NANDO:2200167 + crossed fused kidney + ใ“ใ†ใ•ใ›ใ„ใ‚†ใ†ใ”ใ†ใ˜ใ‚“ ไบคๅทฎๆ€ง่žๅˆ่…Ž - + ไบคๅทฎๆ€ง่žๅˆ่…Ž - - 11 - 2200168 - - fused pelvic kidney + + 11 + NANDO:2200168 + + Fused pelvic kidney + ใ“ใคใฐใ‚“ใถใ‚†ใ†ใ”ใ†ใ˜ใ‚“ ้ชจ็›ค้ƒจ่žๅˆ่…Ž - + ้ชจ็›ค้ƒจ่žๅˆ่…Ž - - 11 - 2200169 - + + 11 + NANDO:2200169 + horseshoe kidney + ใฐใฆใ„ใ˜ใ‚“ ้ฆฌ่น„่…Ž - + ้ฆฌ่น„่…Ž - - 11 - 2200170 - - medullary cystic kidney disease + + 11 + NANDO:2200170 + + medullary cystic kidney + ใšใ„ใ—ใคใฎใ†ใปใ†ใ˜ใ‚“ ้ซ„่ณชๅšข่ƒž่…Ž - + ้ซ„่ณชๆ€งๅšข่ƒž่…Ž - ้ซ„่ณชๅšข่ƒž่…Ž - - 11 - 2200171 - + + 11 + NANDO:2200171 + multilocular cysts of the kidney + ใŸใผใ†ใ›ใ„ใ˜ใ‚“ใฎใ†ใปใ† ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž - + + multilocular renal cyst + ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž - - 11 - 2200172 - + + 11 + NANDO:2200172 + simple renal cyst + ใŸใ‚“ใ˜ใ‚…ใ‚“ใ›ใ„ใ˜ใ‚“ใฎใ†ใปใ† ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž - + + ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž - - 11 - 2200173 - + + 11 + NANDO:2200173 + Medullary Sponge Kidney + ใšใ„ใ—ใคใ‹ใ„ใ‚ใ‚“ใ˜ใ‚“ ้ซ„่ณชๆตท็ถฟ่…Ž - + + MSK ้ซ„่ณชๆตท็ถฟ่…Ž - - 11 - 2200174 - + + 11 + NANDO:2200174 + acquired cystic disease of the kidney + ใ“ใ†ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ˜ใ‚“ใ—ใฃใ‹ใ‚“ ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ - + ๅคšๅšข่ƒžๅŒ–่Ž็ธฎ่…Ž ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ - - 11 - 2200175 - + + 11 + NANDO:2200175 + calyceal diverticulum + ใ˜ใ‚“ใฑใ„ใ‘ใ„ใ—ใค ่…Žๆฏๆ†ฉๅฎค - + ่…Žๆฏๆ†ฉๅฎค - - 11 - 2200176 - + + 11 + NANDO:2200176 + ureteropelvic junction obstruction + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ™ใ„ใ˜ใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡ - - - + + congenital hydronephrosis + ่…Ž็›‚ๅฐฟ็ฎก็งป่กŒ้ƒจ้€š้Ž้šœๅฎณ + ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡ - - 11 - 2200177 - + + 11 + NANDO:2200177 + megacalycosis + ใใ‚‡ใ ใ„ใ˜ใ‚“ใฑใ„ใ—ใ‚‡ใ† ๅทจๅคง่…Žๆฏ็—‡ - + + ๅทจๅคง่…Žๆฏ + ๅทจๅคง่…Žๆฏ็—‡ - - 17 - ๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๅฐฟ่ทฏ้€š้Ž้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹่…ŽๆฉŸ่ƒฝ้šœๅฎณใ‚’้–‰ๅกžๆ€ง่…Ž็—‡ใจใ„ใ„๏ผŒ้–‰ๅกžๆ€ง่…Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹ไธŠ้ƒจใƒปไธ‹้ƒจๅฐฟ่ทฏใฎ็•ฐๅธธใ‚’้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃใจๅฎš็พฉใ™ใ‚‹ใ€‚ - 2200178 - + + 17 + ๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๅฐฟ่ทฏ้€š้Ž้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹่…ŽๆฉŸ่ƒฝ้šœๅฎณใ‚’้–‰ๅกžๆ€ง่…Ž็—‡ใจใ„ใ„๏ผŒ้–‰ๅกžๆ€ง่…Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹ไธŠ้ƒจใƒปไธ‹้ƒจๅฐฟ่ทฏใฎ็•ฐๅธธใ‚’้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃใจๅฎš็พฉใ™ใ‚‹ใ€‚ + NANDO:2200178 + Obstructive uropathy + ใธใ„ใใใ›ใ„ใซใ‚‡ใ†ใ‚ใ—ใฃใ‹ใ‚“ ้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ - + ้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ - - 18 - ่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚ - 2200179 - + + 18 + ่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚ + NANDO:2200179 + Vesicoureteral reflux + ใผใ†ใ“ใ†ใซใ‚‡ใ†ใ‹ใ‚“ใŽใ‚ƒใใ‚Šใ‚…ใ† ่†€่ƒฑๅฐฟ็ฎก้€†ๆต - - + VUR - ่†€่ƒฑๅฐฟ็ฎก้€†ๆต - - 18 - ่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚ - 2200180 - + + 18 + ๅฐฟ่ทฏๅฅ‡ๅฝขใฏ๏ผŒ็™บ็”Ÿใฎๆฎต้šŽใง็”Ÿใ˜ใ‚‹ๅฝขๆ…‹๏ผŒไฝ็ฝฎ๏ผŒๆ•ฐใฎ็•ฐๅธธใŒใ‚ใ‚Š๏ผŒไปฅไธ‹ใฎใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚1)ใ€€้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก2)ใ€€็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก3)ใ€€ๅฐฟ็ฎก็˜ค4)ใ€€ๅทจๅคงๅฐฟ็ฎก็—‡5)ใ€€Prune belly็—‡ๅ€™็พค + NANDO:2200180 + + 43ใŠใ‚ˆใณ44ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใซใ‚‡ใ†ใ‚ใใ‘ใ„ 43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข Other urinary tract malformations - - + + 43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข - - 18 - 2200181 - + + 18 + NANDO:2200181 + duplication of the renal pelvis and ureter + ใ˜ใ‚…ใ†ใตใใ˜ใ‚“ใ†ใซใ‚‡ใ†ใ‹ใ‚“ ้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก - - + + Duplex Collecting System ้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก - - 18 - 2200182 - + + 18 + NANDO:2200182 + ectopic ureteral orifice + ใ„ใ—ใ‚‡ใ‹ใ„ใ“ใ†ใซใ‚‡ใ†ใ‹ใ‚“ ็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก - - + + + ectopic ureter + ๅฐฟ็ฎก็•ฐๆ‰€้–‹ๅฃ ็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก - - 18 - 2200183 - + + 18 + NANDO:2200183 + ureteroceles + ใซใ‚‡ใ†ใ‹ใ‚“ใ‚Šใ‚…ใ† ๅฐฟ็ฎก็˜ค - - + + + + ๅฐฟ็ฎก็˜ค - - 18 - 2200184 - + + 18 + NANDO:2200184 + Megaureter + ใใ‚‡ใ ใ„ใซใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚‡ใ† ๅทจๅคงๅฐฟ็ฎก็—‡ - - + + + ๅทจๅคงๅฐฟ็ฎก็—‡ - - 19 - 2200185 - + + 18 + NANDO:2200185 + Prune belly syndrome Prune belly็—‡ๅ€™็พค + ใทใ‚‹ใƒผใ‚“ในใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + Prune belly็—‡ๅ€™็พค - - 2 - ่…Ž่‡“ใŒๆญฃๅธธๆ™‚ใฎๅŠๅˆ†่ฟ‘ใใซ็ธฎๅฐใ—๏ผŒๆฉŸ่ƒฝไธๅ…จใซ้™ฅใฃใŸ็Šถๆ…‹ใ‚’่จ€ใ†ใ€‚ๅคšใใฎ่…Ž็–พๆ‚ฃใฎ็ต‚ๅฑ€ๅƒใงใ‚ใ‚‹ใ€‚ - 2200186 - + + 2 + ่…Ž่‡“ใŒๆญฃๅธธๆ™‚ใฎๅŠๅˆ†่ฟ‘ใใซ็ธฎๅฐใ—๏ผŒๆฉŸ่ƒฝไธๅ…จใซ้™ฅใฃใŸ็Šถๆ…‹ใ‚’่จ€ใ†ใ€‚ๅคšใใฎ่…Ž็–พๆ‚ฃใฎ็ต‚ๅฑ€ๅƒใงใ‚ใ‚‹ใ€‚ + NANDO:2200186 + Atrophic kidney + ใ„ใ—ใ‚…ใใ˜ใ‚“ ่Ž็ธฎ่…Ž - + ่Ž็ธฎ่…Ž - - 28 - Fanconi็—‡ๅ€™็พคใฏ๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใฎๅ…จ่ˆฌๆ€งๆบถ่ณช่ผธ้€ๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒๆœฌๆฅ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงๅ†ๅธๅŽใ•ใ‚Œใ‚‹็‰ฉ่ณชใŒๅฐฟไธญใธใฎ้Žๅบฆใฎๅ–ชๅคฑใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธ๏ผŒใƒ–ใƒ‰ใ‚ฆ็ณ–๏ผŒ้‡็‚ญ้…ธ็„กๆฉŸใƒชใƒณใชใฉใฎๆบถ่ณชๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใใฎ็ตๆžœใจใ—ใฆไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผŒ้›ป่งฃ่ณช็•ฐๅธธ๏ผŒ่„ฑๆฐด๏ผŒ็™บ้”้šœๅฎณ๏ผŒใใ‚‹็—…ใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200187 - + + 28 + Fanconi็—‡ๅ€™็พคใฏ๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใฎๅ…จ่ˆฌๆ€งๆบถ่ณช่ผธ้€ๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒๆœฌๆฅ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงๅ†ๅธๅŽใ•ใ‚Œใ‚‹็‰ฉ่ณชใŒๅฐฟไธญใธใฎ้Žๅบฆใฎๅ–ชๅคฑใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธ๏ผŒใƒ–ใƒ‰ใ‚ฆ็ณ–๏ผŒ้‡็‚ญ้…ธ็„กๆฉŸใƒชใƒณใชใฉใฎๆบถ่ณชๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใใฎ็ตๆžœใจใ—ใฆไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผŒ้›ป่งฃ่ณช็•ฐๅธธ๏ผŒ่„ฑๆฐด๏ผŒ็™บ้”้šœๅฎณ๏ผŒใใ‚‹็—…ใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200187 + Fanconi syndrome + ใตใใ‚“ใ“ใƒผใซใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค - + Fanconi็—‡ๅ€™็พค ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค - - 48 - ๆœฌ็—‡ใฏ็œผ็—‡็Šถ๏ผŒไธญๆžข็ฅž็ตŒ็—‡็Šถ๏ผŒ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธปๅพดใจใ—๏ผŒ1952ๅนดใซLoweใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚่ฟ‘ๅนดใฏ๏ผŒoculocerebrorenal syndrome of Lowe (OCRL)ใ€€(MIM309000)ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็”ทๅ…10ไธ‡ไบบใซๆ•ฐไบบใฎ็™บ็—‡ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๆญฃ็ขบใช็™บ็—‡้ ปๅบฆใ‚„ๆ‚ฃ่€…ๆ•ฐใฏไธๆ˜Žใงใ‚ใ‚‹(2)ใ€‚1982ๅนดใฎๆˆ‘ใŒๅ›ฝใฎๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(RTA)ใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ๏ผŒRTAใฎ็ด„1/3ใŒๆœฌ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ(3)ใ€‚ใพใŸ๏ผŒใพใ‚Œใงใฏใ‚ใ‚‹ใŒ๏ผŒXๆŸ“่‰ฒไฝ“ใจๅธธๆŸ“่‰ฒไฝ“ใฎ้–“ใซใŠใ‘ใ‚‹ๅ‡่กก่ปขๅบงใซใ‚ˆใ‚‹่ปฝ็—‡ๅฅณๅ…ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŸใ‚๏ผŒๅฅณๅ…ใงใ‚ใฃใฆใ‚‚ๆœฌ็—‡ใ‚’้™คๅค–ใ™ในใใงใฏใชใ„ใ€‚ - 2200188 - + + 48 + ๆœฌ็—‡ใฏ็œผ็—‡็Šถ๏ผŒไธญๆžข็ฅž็ตŒ็—‡็Šถ๏ผŒ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธปๅพดใจใ—๏ผŒ1952ๅนดใซLoweใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚่ฟ‘ๅนดใฏ๏ผŒoculocerebrorenal syndrome of Lowe (OCRL)ใ€€(MIM309000)ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็”ทๅ…10ไธ‡ไบบใซๆ•ฐไบบใฎ็™บ็—‡ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๆญฃ็ขบใช็™บ็—‡้ ปๅบฆใ‚„ๆ‚ฃ่€…ๆ•ฐใฏไธๆ˜Žใงใ‚ใ‚‹(2)ใ€‚1982ๅนดใฎๆˆ‘ใŒๅ›ฝใฎๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(RTA)ใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ๏ผŒRTAใฎ็ด„1/3ใŒๆœฌ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ(3)ใ€‚ใพใŸ๏ผŒใพใ‚Œใงใฏใ‚ใ‚‹ใŒ๏ผŒXๆŸ“่‰ฒไฝ“ใจๅธธๆŸ“่‰ฒไฝ“ใฎ้–“ใซใŠใ‘ใ‚‹ๅ‡่กก่ปขๅบงใซใ‚ˆใ‚‹่ปฝ็—‡ๅฅณๅ…ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŸใ‚๏ผŒๅฅณๅ…ใงใ‚ใฃใฆใ‚‚ๆœฌ็—‡ใ‚’้™คๅค–ใ™ในใใงใฏใชใ„ใ€‚ + NANDO:2200188 + Lowe syndrome + ใ‚ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒญใ‚ฆ็—‡ๅ€™็พค - + Lowe็—‡ๅ€™็พค oculocerebrorenal syndrome of Lowe ใƒญใ‚ฆ็—‡ๅ€™็พค - - 6 - 2200189 - + + 6 + NANDO:2200189 + airway obstruction and stenosis + ใใฉใ†ใใ‚‡ใ†ใ•ใ ๆฐ—้“็‹ญ็ช„ - + ๆฐ—้“็‹ญ็ช„ - - 6 - ๅ’ฝ้ ญ็‹ญ็ช„ใฏใ€ๅ’ฝ้ ญ่…”ใŒๅŒๅนด้ฝขใฎๆญฃๅธธๅ…ใซๆฏ”ในใฆๆ˜Žใ‚‰ใ‹ใซ็‹ญใใ€ใ‹ใคใใ‚Œใซ่ตทๅ› ใ™ใ‚‹็—‡็Šถใ‚’ๆœ‰ใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚็‹ญ็ช„ใซใฏๅ›บๅฎšๆ€งใฎใ‚‚ใฎใจๅค‰ๅ‹•ๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ - 2200190 - + + 6 + ๅ’ฝ้ ญ็‹ญ็ช„ใฏใ€ๅ’ฝ้ ญ่…”ใŒๅŒๅนด้ฝขใฎๆญฃๅธธๅ…ใซๆฏ”ในใฆๆ˜Žใ‚‰ใ‹ใซ็‹ญใใ€ใ‹ใคใใ‚Œใซ่ตทๅ› ใ™ใ‚‹็—‡็Šถใ‚’ๆœ‰ใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚็‹ญ็ช„ใซใฏๅ›บๅฎšๆ€งใฎใ‚‚ใฎใจๅค‰ๅ‹•ๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ + NANDO:2200190 + laryngeal stenosis + ใ“ใ†ใจใ†ใใ‚‡ใ†ใ•ใ ๅ–‰้ ญ็‹ญ็ช„ - + + ๅ–‰้ ญ็‹ญ็ช„ - - 6 - ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚ - 2200191 - + + 6 + ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚ + NANDO:2200191 + supraglottic stenosis + ใ›ใ„ใ‚‚ใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡ - + ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡ - - 6 - ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚ - 2200192 - + + 6 + ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚ + NANDO:2200192 + glottic stenosis + ใ›ใ„ใ‚‚ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅฃฐ้–€็‹ญ็ช„็—‡ - + ๅฃฐ้–€็‹ญ็ช„็—‡ - - 6 - ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚ - 2200193 - + + 6 + ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚ + NANDO:2200193 + subglottic stenosis + ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ - + + ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ - - 6 - ๅฐๅ…ใฎๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅฃฐ้–€๏ผ‰ใจ็‹ญ็พฉใฎๆฐ—้“๏ผˆๅฃฐ้–€ไธ‹่…”ใ€ๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ—ๅค–็ง‘็š„ๆฒป็™‚ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏไธปใซ็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๆฐ—็ฎก็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใงใ‚ใ‚Šใ€ๅคšใใŒ็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใปใจใ‚“ใฉใŒๅ…ˆๅคฉๆ€งใฎ็‹ญ็ช„ใงใ‚ใ‚Šใ€ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎๅพŒๅคฉๆ€งใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ใพใ‚Œใงใ‚ใ‚‹ใ€‚ - 2200194 - + + 6 + ๅฐๅ…ใฎๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅฃฐ้–€๏ผ‰ใจ็‹ญ็พฉใฎๆฐ—้“๏ผˆๅฃฐ้–€ไธ‹่…”ใ€ๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ—ๅค–็ง‘็š„ๆฒป็™‚ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏไธปใซ็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๆฐ—็ฎก็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใงใ‚ใ‚Šใ€ๅคšใใŒ็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใปใจใ‚“ใฉใŒๅ…ˆๅคฉๆ€งใฎ็‹ญ็ช„ใงใ‚ใ‚Šใ€ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎๅพŒๅคฉๆ€งใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ใพใ‚Œใงใ‚ใ‚‹ใ€‚ + NANDO:2200194 + tracheal stenosis + ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใ ๆฐ—็ฎก็‹ญ็ช„ - + ๆฐ—็ฎก็‹ญ็ช„ - - 6 - ๆฐ—็ฎก่ปŸๅŒ–็—‡ใฏๆฐ—็ฎกใ‚„ๆฐ—็ฎกๆ”ฏใฎๅ†…่…”ใŒไฟใŸใ‚Œใšใ€่™š่„ฑ๏ผˆๆ‰ๅนณๅŒ–๏ผ‰ใ—ใ€้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ - 2200195 - + + 6 + ๆฐ—็ฎก่ปŸๅŒ–็—‡ใฏๆฐ—็ฎกใ‚„ๆฐ—็ฎกๆ”ฏใฎๅ†…่…”ใŒไฟใŸใ‚Œใšใ€่™š่„ฑ๏ผˆๆ‰ๅนณๅŒ–๏ผ‰ใ—ใ€้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200195 + tracheomalacia + ใใ‹ใ‚“ใชใ‚“ใ‹ใ—ใ‚‡ใ† ๆฐ—็ฎก่ปŸๅŒ–็—‡ - + + tracheobronchial malacia ๆฐ—็ฎก่ปŸๅŒ–็—‡ - - 6 - ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ - 2200196 - - bronchial stenosis and bronchomalacia - ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡ - - - ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡ - - - 5 - ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใฏใ€็™บไฝœๆ€งใซ่ตทใ“ใ‚‹ๆฐ—้“็‹ญ็ช„ใซใ‚ˆใฃใฆๅ–˜้ณดใ‚„ๅ‘ผๆฐ—ๅปถ้•ทใ€ๅ‘ผๅธๅ›ฐ้›ฃใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใฏ่‡ช็„ถใชใ„ใ—ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ€ๆถˆๅคฑใ™ใ‚‹ใŒใ€ใ”ใ็จ€ใซใฏ่‡ดๆญป็š„ใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆฐ—้“็‹ญ็ช„ใฏใ€ๆฐ—้“ๅนณๆป‘็ญ‹ๅŽ็ธฎใ€ๆฐ—้“็ฒ˜่†œๆตฎ่…ซใ€ๆฐ—้“ๅˆ†ๆณŒไบข้€ฒใ‚’ไธปใชๆˆๅ› ใจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏใ€ๆ…ขๆ€งใฎๆฐ—้“็‚Ž็—‡ใจๆฐ—้“้Žๆ•ๆ€งใงใ‚ใ‚‹ใŒใ€ๆฐ—้“็‚Ž็—‡ใซใฏๅฅฝ้…ธ็ƒใ€ๅฅฝไธญ็ƒใ€ใƒชใƒณใƒ‘็ƒใ€ใƒžใ‚นใƒˆ็ดฐ่ƒžใชใฉใฎ็‚Ž็—‡็ดฐ่ƒžใ€ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใ€็ทš็ถญ่Šฝ็ดฐ่ƒžใ€ๆฐ—้“ๅนณๆป‘็ญ‹ใชใฉใฎๆฐ—้“ๆง‹ๆˆ็ดฐ่ƒžใ€ใŠใ‚ˆใณ็จฎใ€…ใฎๆถฒๆ€งๅ› ๅญใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚‹ๆฐ—้“็‚Ž็—‡ใฏใ€ๆฐ—้“ๅ‚ทๅฎณใจใใ‚Œใซๅผ•ใ็ถšใๆฐ—้“ๆง‹้€ ใฎๅค‰ๅŒ–๏ผˆใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ๏ผ‰ใ‚’ๆƒน่ตทใ—ใฆ้žๅฏ้€†ๆ€งใฎๆฐ—ๆตๅˆถ้™ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€ๆฐ—้“้Žๆ•ๆ€งใ‚’ไบข้€ฒใ•ใ›ใ‚‹ใ€‚ไนณๅ…ๅ–˜ๆฏ๏ผˆ2ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹ๅ–˜ๆฏใจๅฎš็พฉ๏ผ‰ใฎ็—…ๆ…‹ใซใŠใ‘ใ‚‹็‰น็•ฐๆ€งใจใ—ใฆใฏใ€ๅ‘ผๅธๅ™จ็ณปใซใŠใ‘ใ‚‹่งฃๅ‰–ใƒป็”Ÿ็†ๅญฆ็š„็‰นๅพดใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไนณๅนผๅ…ใฏๅนด้•ทๅ…ใซๆฏ”ใ—ๆฐ—้“ๅ†…ๅพ„ใŒ็‹ญใใ€่‚บๅผพๆ€งๅŽ็ธฎๅŠ›ใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆฐ—็ฎกๆ”ฏๅนณๆป‘็ญ‹ใŒๅฐ‘ใชใใ€็ฒ˜ๆถฒๅˆ†ๆณŒ่…บใ‚„ๆฏ็ดฐ่ƒžใŒ้Žๅฝขๆˆใ‚’็คบใ—ใ€ๅดๅ‰ฏๆ›ๆฐ—ใŒๅฐ‘ใชใใ€ๆจช้š”่†œใŒๆฐดๅนณใซไป˜็€ใ—ใฆๅ‘ผๅธ้‹ๅ‹•ใŒๅฐใ•ใ„ใ“ใจใชใฉใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใŒ็”Ÿใ˜ใ‚„ใ™ใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชใ“ใจใ‹ใ‚‰ใ€2ๆญณๆœชๆบ€ใงใฏๅนด้•ทๅ…ใจๆฏ”่ผƒใ—ใฆๆฐ—้“็‹ญ็ช„ใŒๅผทใ็พใ‚Œใ‚„ใ™ใใ€็—‡็Šถใฎ้€ฒ่กŒใŒ้€Ÿใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 2200197 - + + NANDO:2200196 + obsolete bronchial stenosis and bronchomalacia + obsolete ใใ‹ใ‚“ใ—ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†ใƒปใชใ‚“ใ‹ใ—ใ‚‡ใ† + obsolete ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡ + + true + obsolete ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡ + + + 5 + ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใฏใ€็™บไฝœๆ€งใซ่ตทใ“ใ‚‹ๆฐ—้“็‹ญ็ช„ใซใ‚ˆใฃใฆๅ–˜้ณดใ‚„ๅ‘ผๆฐ—ๅปถ้•ทใ€ๅ‘ผๅธๅ›ฐ้›ฃใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใฏ่‡ช็„ถใชใ„ใ—ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ€ๆถˆๅคฑใ™ใ‚‹ใŒใ€ใ”ใ็จ€ใซใฏ่‡ดๆญป็š„ใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆฐ—้“็‹ญ็ช„ใฏใ€ๆฐ—้“ๅนณๆป‘็ญ‹ๅŽ็ธฎใ€ๆฐ—้“็ฒ˜่†œๆตฎ่…ซใ€ๆฐ—้“ๅˆ†ๆณŒไบข้€ฒใ‚’ไธปใชๆˆๅ› ใจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏใ€ๆ…ขๆ€งใฎๆฐ—้“็‚Ž็—‡ใจๆฐ—้“้Žๆ•ๆ€งใงใ‚ใ‚‹ใŒใ€ๆฐ—้“็‚Ž็—‡ใซใฏๅฅฝ้…ธ็ƒใ€ๅฅฝไธญ็ƒใ€ใƒชใƒณใƒ‘็ƒใ€ใƒžใ‚นใƒˆ็ดฐ่ƒžใชใฉใฎ็‚Ž็—‡็ดฐ่ƒžใ€ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใ€็ทš็ถญ่Šฝ็ดฐ่ƒžใ€ๆฐ—้“ๅนณๆป‘็ญ‹ใชใฉใฎๆฐ—้“ๆง‹ๆˆ็ดฐ่ƒžใ€ใŠใ‚ˆใณ็จฎใ€…ใฎๆถฒๆ€งๅ› ๅญใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚‹ๆฐ—้“็‚Ž็—‡ใฏใ€ๆฐ—้“ๅ‚ทๅฎณใจใใ‚Œใซๅผ•ใ็ถšใๆฐ—้“ๆง‹้€ ใฎๅค‰ๅŒ–๏ผˆใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ๏ผ‰ใ‚’ๆƒน่ตทใ—ใฆ้žๅฏ้€†ๆ€งใฎๆฐ—ๆตๅˆถ้™ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€ๆฐ—้“้Žๆ•ๆ€งใ‚’ไบข้€ฒใ•ใ›ใ‚‹ใ€‚ไนณๅ…ๅ–˜ๆฏ๏ผˆ2ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹ๅ–˜ๆฏใจๅฎš็พฉ๏ผ‰ใฎ็—…ๆ…‹ใซใŠใ‘ใ‚‹็‰น็•ฐๆ€งใจใ—ใฆใฏใ€ๅ‘ผๅธๅ™จ็ณปใซใŠใ‘ใ‚‹่งฃๅ‰–ใƒป็”Ÿ็†ๅญฆ็š„็‰นๅพดใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไนณๅนผๅ…ใฏๅนด้•ทๅ…ใซๆฏ”ใ—ๆฐ—้“ๅ†…ๅพ„ใŒ็‹ญใใ€่‚บๅผพๆ€งๅŽ็ธฎๅŠ›ใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆฐ—็ฎกๆ”ฏๅนณๆป‘็ญ‹ใŒๅฐ‘ใชใใ€็ฒ˜ๆถฒๅˆ†ๆณŒ่…บใ‚„ๆฏ็ดฐ่ƒžใŒ้Žๅฝขๆˆใ‚’็คบใ—ใ€ๅดๅ‰ฏๆ›ๆฐ—ใŒๅฐ‘ใชใใ€ๆจช้š”่†œใŒๆฐดๅนณใซไป˜็€ใ—ใฆๅ‘ผๅธ้‹ๅ‹•ใŒๅฐใ•ใ„ใ“ใจใชใฉใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใŒ็”Ÿใ˜ใ‚„ใ™ใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชใ“ใจใ‹ใ‚‰ใ€2ๆญณๆœชๆบ€ใงใฏๅนด้•ทๅ…ใจๆฏ”่ผƒใ—ใฆๆฐ—้“็‹ญ็ช„ใŒๅผทใ็พใ‚Œใ‚„ใ™ใใ€็—‡็Šถใฎ้€ฒ่กŒใŒ้€Ÿใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:2200197 + bronchial asthma + ใใ‹ใ‚“ใ—ใœใ‚“ใใ ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ - + ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ - - 8 - ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital Central Hypoventilation Syndrome: CCHS๏ผ‰ใฏใ€ๅ‘ผๅธไธญๆžขใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…ธๅž‹ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ—ไธปใซ็ก็œ ๆ™‚ใซใ€้‡็—‡ไพ‹ใงใฏ่ฆš้†’ๆ™‚ใซใ‚‚ไฝŽๆ›ๆฐ—ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅปถ้ซ„ใซใ‚ใ‚‹ๅ‘ผๅธไธญๆžขใฎๅŒ–ๅญฆๆ€ง่ชฟ็ฏ€ใฎ็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใซๅฏพใ—ใฆๆ›ๆฐ—ๅฟœ็ญ”ใŒ็”Ÿใ˜ใชใ„ใŸใ‚ไฝŽๆ›ๆฐ—ใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‘ผๅธไธญๆžขใฎ้šœๅฎณใซๅฏพใ™ใ‚‹ๆœ‰ๅŠนใชๆฒป็™‚ใฏใชใ„ใŸใ‚ใ€ไบบๅทฅๅ‘ผๅธ็ฎก็†ใŒๅฟ…้ ˆใงใ‚ใ‚Šใ€ใ„ใ‹ใซไฝŽๆ›ๆฐ—ใซใ‚ˆใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚’้˜ฒใใ‹ใŒ็ฎก็†ใฎไธŠใง้‡่ฆใงใ‚ใ‚‹ใ€‚CCHSใฏ1970ๅนดใซๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๆฏ”่ผƒ็š„ๆ–ฐใ—ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใŸใ‚ใซ็–พๆ‚ฃใฎๅ…จไฝ“ๅƒใซใคใ„ใฆใฏๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„็‚นใ‚‚ๅคšใ„ใ€‚2003ๅนดใซใฏCCHSใฎ็—…ๅ› ้บไผๅญใจใ—ใฆใ€่‡ชๅพ‹็ฅž็ตŒใฎๅˆ†ๅŒ–ใƒป่ช˜ๅฐŽใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹PHOX2B้บไผๅญใŒ็‰นๅฎšใ•ใ‚ŒใŸใ€‚ใ“ใฎ็™บ่ฆ‹ไปฅ้™ใ€CCHSใฎ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใจใ„ใ†ๅด้ขใซใ‚‚ๆณจ็›ฎใŒ้›†ใพใฃใฆใ„ใ‚‹ใ€‚ใพใŸ่ฟ‘ๅนดใงใฏใ€PHOX2Bใฎ้บไผๅญๅค‰็•ฐๅž‹ใจCCHSใฎ่‡จๅบŠ็—‡็Šถใซใฏ้–ข้€ฃใŒใ‚ใ‚‹ใ“ใจใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹late onsetๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใชใฉใ€็พๅœจใ‚‚ๅคšใใฎ็ ”็ฉถใŒ้€ฒ่กŒใ—ใฆใŠใ‚Š็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚ - 2200198 - + + 8 + ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital Central Hypoventilation Syndrome: CCHS๏ผ‰ใฏใ€ๅ‘ผๅธไธญๆžขใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…ธๅž‹ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ—ไธปใซ็ก็œ ๆ™‚ใซใ€้‡็—‡ไพ‹ใงใฏ่ฆš้†’ๆ™‚ใซใ‚‚ไฝŽๆ›ๆฐ—ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅปถ้ซ„ใซใ‚ใ‚‹ๅ‘ผๅธไธญๆžขใฎๅŒ–ๅญฆๆ€ง่ชฟ็ฏ€ใฎ็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใซๅฏพใ—ใฆๆ›ๆฐ—ๅฟœ็ญ”ใŒ็”Ÿใ˜ใชใ„ใŸใ‚ไฝŽๆ›ๆฐ—ใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‘ผๅธไธญๆžขใฎ้šœๅฎณใซๅฏพใ™ใ‚‹ๆœ‰ๅŠนใชๆฒป็™‚ใฏใชใ„ใŸใ‚ใ€ไบบๅทฅๅ‘ผๅธ็ฎก็†ใŒๅฟ…้ ˆใงใ‚ใ‚Šใ€ใ„ใ‹ใซไฝŽๆ›ๆฐ—ใซใ‚ˆใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚’้˜ฒใใ‹ใŒ็ฎก็†ใฎไธŠใง้‡่ฆใงใ‚ใ‚‹ใ€‚CCHSใฏ1970ๅนดใซๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๆฏ”่ผƒ็š„ๆ–ฐใ—ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใŸใ‚ใซ็–พๆ‚ฃใฎๅ…จไฝ“ๅƒใซใคใ„ใฆใฏๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„็‚นใ‚‚ๅคšใ„ใ€‚2003ๅนดใซใฏCCHSใฎ็—…ๅ› ้บไผๅญใจใ—ใฆใ€่‡ชๅพ‹็ฅž็ตŒใฎๅˆ†ๅŒ–ใƒป่ช˜ๅฐŽใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹PHOX2B้บไผๅญใŒ็‰นๅฎšใ•ใ‚ŒใŸใ€‚ใ“ใฎ็™บ่ฆ‹ไปฅ้™ใ€CCHSใฎ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใจใ„ใ†ๅด้ขใซใ‚‚ๆณจ็›ฎใŒ้›†ใพใฃใฆใ„ใ‚‹ใ€‚ใพใŸ่ฟ‘ๅนดใงใฏใ€PHOX2Bใฎ้บไผๅญๅค‰็•ฐๅž‹ใจCCHSใฎ่‡จๅบŠ็—‡็Šถใซใฏ้–ข้€ฃใŒใ‚ใ‚‹ใ“ใจใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹late onsetๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใชใฉใ€็พๅœจใ‚‚ๅคšใใฎ็ ”็ฉถใŒ้€ฒ่กŒใ—ใฆใŠใ‚Š็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚ + NANDO:2200198 + congenital central hypoventilation syndrome + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค + - - + CCHS ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค - - 2 - ็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆidiopathic interstitial pneumonia, IIP๏ผ‰ใฏใ€ใŠใ‚‚ใซ่‚บใฎ้–“่ณชใซๆ…ขๆ€ง็š„ใช็‚Ž็—‡ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใฎใ†ใกใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ - 2200199 - + + 2 + ็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆidiopathic interstitial pneumonia, IIP๏ผ‰ใฏใ€ใŠใ‚‚ใซ่‚บใฎ้–“่ณชใซๆ…ขๆ€ง็š„ใช็‚Ž็—‡ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใฎใ†ใกใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200199 + idiopathic interstitial pneumonia + ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“ ็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž - + - + + IIPs ็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž - - 1 - ้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ๏ผˆHereditary interstitial lung disease: HILD๏ผ‰ใฏใ€้บไผๅญๅค‰็•ฐใŒไธปๅ› ใจใชใฃใฆ่ตทใ“ใ‚‹็จ€ใช้–“่ณชๆ€ง่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจX็ทšๅ†™็œŸใ‚ใ‚‹ใ„ใฏCT็”ปๅƒไธŠใฎใณใพใ‚“ๆ€ง้–“่ณชๆ€ง้™ฐๅฝฑใจๅ‘ผๅธ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง้–“่ณชๆ€ง่‚บ็‚Žใ€ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ใŠใ‚ˆใณๅฐๅ…ๆœŸ็™บ็—‡ใฎ้–“่ณชๆ€ง่‚บ็‚Žใ‚’ไปฃ่กจใจใ™ใ‚‹้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใŒใ€ๆˆไบบใซใชใฃใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚่จบๆ–ญใฎ้š›ใซใฏใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ‚’ๅซใ‚€ๅฅ‡ๅฝข็—‡ๅ€™็พคใ€ๅ‘ผๅธๅ™จใฎๅฝขๆ…‹็•ฐๅธธใ€้ชจ็ณป็ตฑ็–พๆ‚ฃใ€็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ€้‡็—‡ๆ–ฐ็”Ÿๅ…ไปฎๆญปใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…้ทๅปถๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใ€ๆ—ฉ็”ฃใ‚„ๅญๅฎฎๅ†…็‚Ž็—‡ใซ่ตทๅ› ใ™ใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃใชใฉใฎ็–พๆ‚ฃใƒป็—…ๆ…‹ใ‚’้™คๅค–ใ™ใ‚‹ใ€‚ - 2200200 - + + 1 + ้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ๏ผˆHereditary interstitial lung disease: HILD๏ผ‰ใฏใ€้บไผๅญๅค‰็•ฐใŒไธปๅ› ใจใชใฃใฆ่ตทใ“ใ‚‹็จ€ใช้–“่ณชๆ€ง่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจX็ทšๅ†™็œŸใ‚ใ‚‹ใ„ใฏCT็”ปๅƒไธŠใฎใณใพใ‚“ๆ€ง้–“่ณชๆ€ง้™ฐๅฝฑใจๅ‘ผๅธ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง้–“่ณชๆ€ง่‚บ็‚Žใ€ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ใŠใ‚ˆใณๅฐๅ…ๆœŸ็™บ็—‡ใฎ้–“่ณชๆ€ง่‚บ็‚Žใ‚’ไปฃ่กจใจใ™ใ‚‹้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใŒใ€ๆˆไบบใซใชใฃใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚่จบๆ–ญใฎ้š›ใซใฏใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ‚’ๅซใ‚€ๅฅ‡ๅฝข็—‡ๅ€™็พคใ€ๅ‘ผๅธๅ™จใฎๅฝขๆ…‹็•ฐๅธธใ€้ชจ็ณป็ตฑ็–พๆ‚ฃใ€็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ€้‡็—‡ๆ–ฐ็”Ÿๅ…ไปฎๆญปใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…้ทๅปถๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใ€ๆ—ฉ็”ฃใ‚„ๅญๅฎฎๅ†…็‚Ž็—‡ใซ่ตทๅ› ใ™ใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃใชใฉใฎ็–พๆ‚ฃใƒป็—…ๆ…‹ใ‚’้™คๅค–ใ™ใ‚‹ใ€‚ + NANDO:2200200 + Congenital alveolar proteinosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - + - + + ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ - - 1 - 2200201 - + + 1 + NANDO:2200201 + Hereditary interstitial lung disease + ใ„ใงใ‚“ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“ ้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ - + HILD ้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ - - 3 - ่‚บ่ƒžๅ†…ใซใƒชใƒณ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚’ไธปๆˆๅˆ†ใจใ™ใ‚‹ๅพฎๅฐ็ต็ŸณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‘ผๅธ้šœๅฎณใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200202 - + + 3 + ่‚บ่ƒžๅ†…ใซใƒชใƒณ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚’ไธปๆˆๅˆ†ใจใ™ใ‚‹ๅพฎๅฐ็ต็ŸณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‘ผๅธ้šœๅฎณใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200202 + pulmonary alveolar microlithiasis + ใฏใ„ใปใ†ใณใ›ใใ—ใ‚‡ใ† ่‚บ่ƒžๅพฎ็Ÿณ็—‡ - + - + PAM - ่‚บ่ƒžๅพฎ็Ÿณ็—‡ - - 10 - ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใฎ่กจ้ขใซใฏๅคšๆ•ฐใฎ็ทšๆฏ›ใŒๅญ˜ๅœจใ—ใ€็ทšๆฏ›ใŒ้€ฃๅ‹•ใ—ใฆๅฃๅดใซๅ‘ใ‹ใฃใฆ้žญใ‚’ๆ‰“ใคใ‚ˆใ†ใซ้‹ๅ‹•ใ™ใ‚‹ใ“ใจใงใ€็ฒ˜ๆถฒๅฑคใฎๆตใ‚ŒใŒ็”Ÿใ˜ใ€ๅพฎ็ฒ’ๅญ็Šถใฎ็•ฐ็‰ฉใ€็ดฐ่Œใ€ๅ–€็—ฐใชใฉใ‚’ๆŽ’้™คใ—ใฆๆฐ—้“ๅ†…ใ‚’ๆธ…ๆต„ใซไฟใคใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ใ“ใฎ็ทšๆฏ›ใŒๆญฃๅธธใชๆง‹้€ ใจๆฉŸ่ƒฝใ‚’็™บๆฎใ™ใ‚‹ใŸใ‚ใซใฏใ€ๅคšๆ•ฐใฎ้บไผๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ทšๆฏ›้‹ๅ‹•ใŒ้šœๅฎณใ•ใ‚Œใ€ไธญ่€ณใ€่€ณ็ฎกใ€้ผปใ€ๅ‰ฏ้ผป่…”ใ€ๅ’ฝ้ ญใ‚’ๅซใ‚ใŸๅ‘ผๅธๅ™จ็ณปใฎๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๆ…ขๆ€งๅ‰ฏ้ผป่…”็‚Žใ‚„ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ‚’้ซ˜้ ปๅบฆใซๅˆไฝตใ™ใ‚‹ใ€‚ใ‹ใคใฆใฏ็ทšๆฏ›ไธๅ‹•็—‡ๅ€™็พคใจๅ‘ผใฐใ‚ŒใŸใŒใ€้‹ๅ‹•ใŒๅผฑใ„ใ‚‚ใฎใ‚„ๅ”่ชฟ้‹ๅ‹•ใŒไธๆƒใ„ใชใ‚‚ใฎใชใฉใ‚‚ไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๅœจใฎๅ‘ผ็งฐใซ่ฝใก็€ใ„ใŸใ€‚ใชใŠใ€ๆœฌ็—‡ใงใฏ่ƒŽๅ…ๆœŸใซๅทฆๅณใŒ้ฉๆญฃใซๅˆคๅˆฅใ•ใ‚Œใšใ€็ด„ๅŠๆ•ฐใงๅฎŒๅ…จๅ†…่‡“้€†ไฝใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚’Kartagener็—‡ๅ€™็พคใจๅ‘ผใถใŒใ€ๅ†…่‡“้€†ไฝใฎๆœ‰็„กใจ้‡็—‡ๅบฆใซใฏ้–ขไฟ‚ใŒใชใใ€ๆœฌๆ…‹ใฏๅŒใ˜ใงใ‚ใ‚‹ใ€‚ - 2200203 - + + 10 + ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใฎ่กจ้ขใซใฏๅคšๆ•ฐใฎ็ทšๆฏ›ใŒๅญ˜ๅœจใ—ใ€็ทšๆฏ›ใŒ้€ฃๅ‹•ใ—ใฆๅฃๅดใซๅ‘ใ‹ใฃใฆ้žญใ‚’ๆ‰“ใคใ‚ˆใ†ใซ้‹ๅ‹•ใ™ใ‚‹ใ“ใจใงใ€็ฒ˜ๆถฒๅฑคใฎๆตใ‚ŒใŒ็”Ÿใ˜ใ€ๅพฎ็ฒ’ๅญ็Šถใฎ็•ฐ็‰ฉใ€็ดฐ่Œใ€ๅ–€็—ฐใชใฉใ‚’ๆŽ’้™คใ—ใฆๆฐ—้“ๅ†…ใ‚’ๆธ…ๆต„ใซไฟใคใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ใ“ใฎ็ทšๆฏ›ใŒๆญฃๅธธใชๆง‹้€ ใจๆฉŸ่ƒฝใ‚’็™บๆฎใ™ใ‚‹ใŸใ‚ใซใฏใ€ๅคšๆ•ฐใฎ้บไผๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ทšๆฏ›้‹ๅ‹•ใŒ้šœๅฎณใ•ใ‚Œใ€ไธญ่€ณใ€่€ณ็ฎกใ€้ผปใ€ๅ‰ฏ้ผป่…”ใ€ๅ’ฝ้ ญใ‚’ๅซใ‚ใŸๅ‘ผๅธๅ™จ็ณปใฎๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๆ…ขๆ€งๅ‰ฏ้ผป่…”็‚Žใ‚„ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ‚’้ซ˜้ ปๅบฆใซๅˆไฝตใ™ใ‚‹ใ€‚ใ‹ใคใฆใฏ็ทšๆฏ›ไธๅ‹•็—‡ๅ€™็พคใจๅ‘ผใฐใ‚ŒใŸใŒใ€้‹ๅ‹•ใŒๅผฑใ„ใ‚‚ใฎใ‚„ๅ”่ชฟ้‹ๅ‹•ใŒไธๆƒใ„ใชใ‚‚ใฎใชใฉใ‚‚ไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๅœจใฎๅ‘ผ็งฐใซ่ฝใก็€ใ„ใŸใ€‚ใชใŠใ€ๆœฌ็—‡ใงใฏ่ƒŽๅ…ๆœŸใซๅทฆๅณใŒ้ฉๆญฃใซๅˆคๅˆฅใ•ใ‚Œใšใ€็ด„ๅŠๆ•ฐใงๅฎŒๅ…จๅ†…่‡“้€†ไฝใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚’Kartagener็—‡ๅ€™็พคใจๅ‘ผใถใŒใ€ๅ†…่‡“้€†ไฝใฎๆœ‰็„กใจ้‡็—‡ๅบฆใซใฏ้–ขไฟ‚ใŒใชใใ€ๆœฌๆ…‹ใฏๅŒใ˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200203 + primary ciliary dyskinesia + ใ›ใ‚“ใ‚‚ใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค - + ็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค - - 10 - 2200204 - + + 10 + NANDO:2200204 + Kartagener syndrome + ใ‹ใ‚‹ใŸใ’ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค - - - + + Kartagener็—‡ๅ€™็พค ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค - - 12 - ๅšข่ƒžๆ€ง็ทš็ถญ็—‡(Cystic fibrosis: CF)ใฏใ€cystic fibrosis transmembrane conductance regulator (CFTR) ้บไผๅญใฎๅค‰็•ฐใŒๅŽŸๅ› ใจใชใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CFTRใฏๅ…จ่บซใฎไธŠ็šฎ่†œ็ดฐ่ƒžใซ็™บ็พใ™ใ‚‹ใ‚ฏใƒญใƒผใƒซใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚Šใ€ใ‚คใ‚ชใƒณใจๆฐดใฎ่ผธ้€ใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ€‚CFTRใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ“ใฎ่ชฟ็ฏ€ๆฉŸๆง‹ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒๆฉŸ่ƒฝใซ็•ฐๅธธใ‚’ใใŸใ™ใ€‚ๆถˆๅŒ–็ฎกใ‚„ๆฐ—้“ใฎๅˆ†ๆณŒๆถฒใŒ็ฒ˜็จ ใจใชใ‚Šใ€่†ตๅค–ๅˆ†ๆณŒ็•ฐๅธธใซใ‚ˆใ‚‹่„‚่‚ชๅธๅŽไธๅ…จใ€ๆ „้คŠ้šœๅฎณใŒ่ตทใ“ใ‚‹ใ€‚ๆฐ—้“ๅˆ†ๆณŒใฎ็•ฐๅธธใฏๆŽ’็—ฐๅ›ฐ้›ฃใƒป้›ฃๆฒปๆ€งๆฐ—้“ๆ„ŸๆŸ“ใฎๅŽŸๅ› ใจใชใ‚Šใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใซ่‡ณใ‚‹ใ€‚ๆฌง็ฑณใฎ็–พๆ‚ฃๅcystic fibrosisใฎๅ’Œ่จณใฏๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใพใงๆˆ‘ใŒๅ›ฝใงใฏ่†ตๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใฎ็–พๆ‚ฃๅใง้›ฃ็—…็™ป้Œฒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200205 - + + 12 + ๅšข่ƒžๆ€ง็ทš็ถญ็—‡(Cystic fibrosis: CF)ใฏใ€cystic fibrosis transmembrane conductance regulator (CFTR) ้บไผๅญใฎๅค‰็•ฐใŒๅŽŸๅ› ใจใชใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CFTRใฏๅ…จ่บซใฎไธŠ็šฎ่†œ็ดฐ่ƒžใซ็™บ็พใ™ใ‚‹ใ‚ฏใƒญใƒผใƒซใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚Šใ€ใ‚คใ‚ชใƒณใจๆฐดใฎ่ผธ้€ใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ€‚CFTRใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ“ใฎ่ชฟ็ฏ€ๆฉŸๆง‹ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒๆฉŸ่ƒฝใซ็•ฐๅธธใ‚’ใใŸใ™ใ€‚ๆถˆๅŒ–็ฎกใ‚„ๆฐ—้“ใฎๅˆ†ๆณŒๆถฒใŒ็ฒ˜็จ ใจใชใ‚Šใ€่†ตๅค–ๅˆ†ๆณŒ็•ฐๅธธใซใ‚ˆใ‚‹่„‚่‚ชๅธๅŽไธๅ…จใ€ๆ „้คŠ้šœๅฎณใŒ่ตทใ“ใ‚‹ใ€‚ๆฐ—้“ๅˆ†ๆณŒใฎ็•ฐๅธธใฏๆŽ’็—ฐๅ›ฐ้›ฃใƒป้›ฃๆฒปๆ€งๆฐ—้“ๆ„ŸๆŸ“ใฎๅŽŸๅ› ใจใชใ‚Šใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใซ่‡ณใ‚‹ใ€‚ๆฌง็ฑณใฎ็–พๆ‚ฃๅcystic fibrosisใฎๅ’Œ่จณใฏๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใพใงๆˆ‘ใŒๅ›ฝใงใฏ่†ตๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใฎ็–พๆ‚ฃๅใง้›ฃ็—…็™ป้Œฒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200205 + cystic fibrosis + ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ๅšข่ƒžๆ€ง็ทš็ถญ็—‡ + - - + CF ๅšข่ƒžๆ€ง็ทš็ถญ็—‡ - - 4 - ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใฏใ€ๆง˜ใ€…ใชๅŽŸๅ› ใงๆฐ—็ฎกๆ”ฏๅฃใŒ็ ดๅฃŠใ•ใ‚Œใฆ่†จ้š†ใ—ใ€ๆฐ—็ฎกๆ”ฏๅ†…่…”ใŒๆ‹กๅผตใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅ†…่…”ใซใฏ่†ฟๆ€งใฎ็—ฐใŒๅ……ๆบ€ใ—ใ€ๆ…ขๆ€ง็š„ใซ็‚Ž็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ‹ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ€‚ๅ‰ฏ้ผป่…”็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 2200206 - + + 4 + ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใฏใ€ๆง˜ใ€…ใชๅŽŸๅ› ใงๆฐ—็ฎกๆ”ฏๅฃใŒ็ ดๅฃŠใ•ใ‚Œใฆ่†จ้š†ใ—ใ€ๆฐ—็ฎกๆ”ฏๅ†…่…”ใŒๆ‹กๅผตใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅ†…่…”ใซใฏ่†ฟๆ€งใฎ็—ฐใŒๅ……ๆบ€ใ—ใ€ๆ…ขๆ€ง็š„ใซ็‚Ž็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ‹ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ€‚ๅ‰ฏ้ผป่…”็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200206 + bronchiectasis + ใใ‹ใ‚“ใ—ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ - + ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ - - 11 - ่‚บๆœซๆขขๆ€งใฎๅพฎๅฐๅ‡บ่ก€ใŒๅๅพฉใ—ใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณใŒ่‚บ็ต„็น”ใซๆฒˆ็€ใ—ใฆใใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ„ใ†ใ€‚ๆง˜ใ€…ใช็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใŒใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใ‚’็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ™ใ‚‹ใ€‚ - 2200207 - - idiopathic pulmonary hemosiderosis + + 11 + ่‚บๆœซๆขขๆ€งใฎๅพฎๅฐๅ‡บ่ก€ใŒๅๅพฉใ—ใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณใŒ่‚บ็ต„็น”ใซๆฒˆ็€ใ—ใฆใใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ„ใ†ใ€‚ๆง˜ใ€…ใช็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใŒใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใ‚’็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ™ใ‚‹ใ€‚ + NANDO:2200207 + + Idiopathic pulmonary hemosiderosis + ใจใใฏใคใ›ใ„ใฏใ„ใธใ‚‚ใ˜ใงใ‚ใƒผใ—ใ™ ็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น - + + Idiopathic pulmonary haemosiderosis ็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น - - 14 - ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ‘ผๅธ้šœๅฎณใŒ่ปฝๅฟซใ—ใŸๅพŒใ€ใ‚ใ‚‹ใ„ใฏใใ‚Œใซๅผ•ใ็ถšใ„ใฆใ€้…ธ็ด ๅธๅ…ฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ‚ˆใ†ใชๅ‘ผๅธ็ชฎ่ฟซ็—‡็ŠถใŒๆ—ฅ้ฝข28ใ‚’่ถ…ใˆใฆ็ถšใใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ่‚บใซ็—…ๅค‰ใŒใชใ„็„กๅ‘ผๅธ็™บไฝœใ€ไธ€้Žๆ€งใซ้…ธ็ด ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŒ้•ทๆœŸ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ—ใชใ„่‚บ็‚Žใชใฉใฎๆ€ฅๆ€ง็–พๆ‚ฃใฏ้™คๅค–ใ™ใ‚‹ใ€‚ - 2200208 - + + 14 + ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ‘ผๅธ้šœๅฎณใŒ่ปฝๅฟซใ—ใŸๅพŒใ€ใ‚ใ‚‹ใ„ใฏใใ‚Œใซๅผ•ใ็ถšใ„ใฆใ€้…ธ็ด ๅธๅ…ฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ‚ˆใ†ใชๅ‘ผๅธ็ชฎ่ฟซ็—‡็ŠถใŒๆ—ฅ้ฝข28ใ‚’่ถ…ใˆใฆ็ถšใใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ่‚บใซ็—…ๅค‰ใŒใชใ„็„กๅ‘ผๅธ็™บไฝœใ€ไธ€้Žๆ€งใซ้…ธ็ด ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŒ้•ทๆœŸ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ—ใชใ„่‚บ็‚Žใชใฉใฎๆ€ฅๆ€ง็–พๆ‚ฃใฏ้™คๅค–ใ™ใ‚‹ใ€‚ + NANDO:2200208 + chronic lung disease + ใพใ‚“ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“ ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ - - + CLD - ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ - - 13 - ไธๅฏ้€†ๆ€งใฎ็ดฐๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใซใ‚ˆใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใชใฉใฎๆ›ๆฐ—้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200209 - + + 13 + ไธๅฏ้€†ๆ€งใฎ็ดฐๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใซใ‚ˆใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใชใฉใฎๆ›ๆฐ—้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200209 + bronchiolitis obliterans + ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“ ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž - + - + ้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž - - 7 - ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ๅ†…ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ๆฌ ๆๅญ”ใฏๆจช้š”่†œใฎใฉใฎ้ƒจไฝใซ็”Ÿใ˜ใฆใ‚‚ใ‚ˆใ„ใŒใ€้ ปๅบฆใŒ้ซ˜ใ่‡จๅบŠ็š„ๆ„็พฉใŒๅคงใใ„ใฎใฏใ€ๆฌ ๆๅญ”ใŒๆจช้š”่†œใฎๅพŒๅค–ๅดใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใงใ‚ใ‚‹ใŸใ‚ใ€ๅ˜ใซๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ขใจใ„ใˆใฐใ€ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใฎใ“ใจใ‚’ๆŒ‡ใ™ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่ƒธ่…”ๅ†…ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚ - 2200210 - + + 7 + ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ๅ†…ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ๆฌ ๆๅญ”ใฏๆจช้š”่†œใฎใฉใฎ้ƒจไฝใซ็”Ÿใ˜ใฆใ‚‚ใ‚ˆใ„ใŒใ€้ ปๅบฆใŒ้ซ˜ใ่‡จๅบŠ็š„ๆ„็พฉใŒๅคงใใ„ใฎใฏใ€ๆฌ ๆๅญ”ใŒๆจช้š”่†œใฎๅพŒๅค–ๅดใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใงใ‚ใ‚‹ใŸใ‚ใ€ๅ˜ใซๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ขใจใ„ใˆใฐใ€ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใฎใ“ใจใ‚’ๆŒ‡ใ™ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่ƒธ่…”ๅ†…ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:2200210 + congenital diaphragmatic hernia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚ ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข - + - + ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข - - 9 - ่‚บๅฎŸ่ณชๅ†…ใซๅ…ˆๅคฉๆ€งใซๆฐ—้“ไปฅๅค–ใซๆ’ๅธธ็š„ใซๅšข่ƒžใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใฏๅ‡บ็”Ÿๅ‰ใซ่ƒŽๅ…่‚บใฎ็•ฐๅธธใจใ—ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๅ…จๅ›ฝ็š„ใช่ชฟๆŸปใงใฏใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใฎ10-15๏ผ…็จ‹ๅบฆใฏๅ‘จ็”ฃๆœŸใซใ€่ƒŽๅ…ๆฐด่…ซใ€ๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใ€็”Ÿ็›ดๅพŒใฎๅ‘ผๅธไธๅ…จใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅˆ†ใ‹ใฃใŸใ€‚็”Ÿ็›ดๅพŒใซๅ‘ผๅธๅ™จ็—‡็ŠถใŒใชใ„ๅ ดๅˆใงใ‚‚ใ€9ๅ‰ฒไปฅไธŠใฎ็—‡ไพ‹ใฏๅนผๅ…ๆœŸใฎ้–“ใซๅๅพฉใ™ใ‚‹่‚บๆ„ŸๆŸ“ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใŸใ‚ใ€ไนณๅ…ๆœŸใ€้…ใใ‚‚ๅนผๅ…ๆœŸๆ—ฉๆœŸใพใงใซๆ‰‹่ก“็š„ใซ็—…ๅค‰ใ‚’ๅˆ‡้™คใ™ในใใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€้ƒจใฎ็—‡ไพ‹ใงใฏ่ค‡ๆ•ฐ่‚บ่‘‰ใซ็—…ๅค‰ใŒใฟใ‚‰ใ‚Œใ€ๆ‰‹่ก“ๅพŒใ‚‚ๆˆไบบๅพŒใพใงๅšข่ƒžๆ€ง็—…ๅค‰ใฎ้บๆฎ‹ใ‚„ใ€ๅ‘ผๅธ้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๆ‰‹่ก“ใฎๅๅพฉใ‚„ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆœฌ็–พๆ‚ฃใ‹ใ‚‰ใฎ็™บใŒใ‚“ใฎๅ ฑๅ‘ŠใŒๆตทๅค–ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ1992ๅนดไปฅ้™ใซๅ‡บ็”Ÿใ—ใŸ850ไพ‹ไปฅไธŠใฎ็—‡ไพ‹ไธญใง็™บใŒใ‚“ไพ‹ใฏ็ขบ่ชใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ“ใ‚Œใ‚‰ใ‹ใ‚‰ใ€ๆ‰‹่ก“ๅพŒใซๆญฃๅธธ่‚บๆฉŸ่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹็—‡ไพ‹ใŒๅคšใ„ไธ€ๆ–นใงใ€ๆˆไบบไปฅ้™ใ‚‚็ตŒ้Ž่ฆณๅฏŸใ‚’่ฆใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200211 - + + 9 + ่‚บๅฎŸ่ณชๅ†…ใซๅ…ˆๅคฉๆ€งใซๆฐ—้“ไปฅๅค–ใซๆ’ๅธธ็š„ใซๅšข่ƒžใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใฏๅ‡บ็”Ÿๅ‰ใซ่ƒŽๅ…่‚บใฎ็•ฐๅธธใจใ—ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๅ…จๅ›ฝ็š„ใช่ชฟๆŸปใงใฏใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใฎ10-15๏ผ…็จ‹ๅบฆใฏๅ‘จ็”ฃๆœŸใซใ€่ƒŽๅ…ๆฐด่…ซใ€ๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใ€็”Ÿ็›ดๅพŒใฎๅ‘ผๅธไธๅ…จใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅˆ†ใ‹ใฃใŸใ€‚็”Ÿ็›ดๅพŒใซๅ‘ผๅธๅ™จ็—‡็ŠถใŒใชใ„ๅ ดๅˆใงใ‚‚ใ€9ๅ‰ฒไปฅไธŠใฎ็—‡ไพ‹ใฏๅนผๅ…ๆœŸใฎ้–“ใซๅๅพฉใ™ใ‚‹่‚บๆ„ŸๆŸ“ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใŸใ‚ใ€ไนณๅ…ๆœŸใ€้…ใใ‚‚ๅนผๅ…ๆœŸๆ—ฉๆœŸใพใงใซๆ‰‹่ก“็š„ใซ็—…ๅค‰ใ‚’ๅˆ‡้™คใ™ในใใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€้ƒจใฎ็—‡ไพ‹ใงใฏ่ค‡ๆ•ฐ่‚บ่‘‰ใซ็—…ๅค‰ใŒใฟใ‚‰ใ‚Œใ€ๆ‰‹่ก“ๅพŒใ‚‚ๆˆไบบๅพŒใพใงๅšข่ƒžๆ€ง็—…ๅค‰ใฎ้บๆฎ‹ใ‚„ใ€ๅ‘ผๅธ้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๆ‰‹่ก“ใฎๅๅพฉใ‚„ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆœฌ็–พๆ‚ฃใ‹ใ‚‰ใฎ็™บใŒใ‚“ใฎๅ ฑๅ‘ŠใŒๆตทๅค–ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ1992ๅนดไปฅ้™ใซๅ‡บ็”Ÿใ—ใŸ850ไพ‹ไปฅไธŠใฎ็—‡ไพ‹ไธญใง็™บใŒใ‚“ไพ‹ใฏ็ขบ่ชใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ“ใ‚Œใ‚‰ใ‹ใ‚‰ใ€ๆ‰‹่ก“ๅพŒใซๆญฃๅธธ่‚บๆฉŸ่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹็—‡ไพ‹ใŒๅคšใ„ไธ€ๆ–นใงใ€ๆˆไบบไปฅ้™ใ‚‚็ตŒ้Ž่ฆณๅฏŸใ‚’่ฆใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200211 + Congenital cystic lung disease + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“ ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ - + ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ - - 72 - ๆดž็ต็ฏ€ใฎไธ€้Žๆ€งใ‚ใ‚‹ใ„ใฏๆŒ็ถšๆ€งใฎๆฉŸ่ƒฝไธๅ…จใ‚‚ใ—ใใฏใ€ๆดž็ต็ฏ€ใ‹ใ‚‰ๅฟƒๆˆฟใธใฎ่ˆˆๅฅฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚‹็—‡ๅ€™็พคใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚Rubensteinใฎๅˆ†้กžใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚Rubensteinใฎๅˆ†้กž๏ผš I็พค๏ผšๅŽŸๅ› ไธๆ˜Žใฎๆดžๆ€งๅพ่„ˆ๏ผˆ๏ผœ50/ๅˆ†๏ผ‰ II็พค๏ผšๆดžๅœๆญขใพใŸใฏๆดžๆˆฟใƒ–ใƒญใƒƒใ‚ฏ III็พค๏ผšๅพ่„ˆ้ ป่„ˆ็—‡ๅ€™็พคๅพ่„ˆใซใ‚ˆใ‚‹็—‡็ŠถใŒใ‚ใ‚‹ใ‚‚ใฎใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใงใ‚ใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆคใˆ่พผใฟๅพŒใฏใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใƒšใƒผใ‚นใƒกใƒผใ‚ซ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200212 - + + 72 + ๆดž็ต็ฏ€ใฎไธ€้Žๆ€งใ‚ใ‚‹ใ„ใฏๆŒ็ถšๆ€งใฎๆฉŸ่ƒฝไธๅ…จใ‚‚ใ—ใใฏใ€ๆดž็ต็ฏ€ใ‹ใ‚‰ๅฟƒๆˆฟใธใฎ่ˆˆๅฅฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚‹็—‡ๅ€™็พคใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚Rubensteinใฎๅˆ†้กžใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚Rubensteinใฎๅˆ†้กž๏ผš I็พค๏ผšๅŽŸๅ› ไธๆ˜Žใฎๆดžๆ€งๅพ่„ˆ๏ผˆ๏ผœ50/ๅˆ†๏ผ‰ II็พค๏ผšๆดžๅœๆญขใพใŸใฏๆดžๆˆฟใƒ–ใƒญใƒƒใ‚ฏ III็พค๏ผšๅพ่„ˆ้ ป่„ˆ็—‡ๅ€™็พคๅพ่„ˆใซใ‚ˆใ‚‹็—‡็ŠถใŒใ‚ใ‚‹ใ‚‚ใฎใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใงใ‚ใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆคใˆ่พผใฟๅพŒใฏใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใƒšใƒผใ‚นใƒกใƒผใ‚ซ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200212 + Sick sinus syndrome + ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆดžไธๅ…จ็—‡ๅ€™็พค - + ๆดžไธๅ…จ็—‡ๅ€™็พค - - 95 - ๅฟƒ้›ปๅ›ณใงPR้–“้š”ใฎๅปถ้•ทใ‚’ไผดใ‚ใšใ€็ช็„ถๅฟƒๅฎคใธใฎไผๅฐŽใŒ้€”็ตถใ—ใ€๏ผ‘ใ€œ๏ผ’ๆ‹ใฎQRSๆณขใŒ่„ฑ่ฝใ™ใ‚‹ๅฟƒๆˆฟๅฟƒๅฎคไผๅฐŽ้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใ€‚1ใ€œ2ๆ‹ใฎQRS่„ฑ่ฝใงใ‚ใ‚Œใฐใ€็—‡็Šถใ‚’่จดใˆใ‚‹ใ“ใจใฏๅฐ‘ใชใ„ใŒใ€2๏ผš1ๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏไปฅไธŠใฎ้ซ˜ๅบฆๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใงใฏๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซๆบ–ใ˜ใŸ็ตŒ้Ž่ฆณๅฏŸใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซ้€ฒ่กŒใ™ใ‚Œใฐใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใฎ้ฉๅฟœใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200213 - + + 95 + ๅฟƒ้›ปๅ›ณใงPR้–“้š”ใฎๅปถ้•ทใ‚’ไผดใ‚ใšใ€็ช็„ถๅฟƒๅฎคใธใฎไผๅฐŽใŒ้€”็ตถใ—ใ€๏ผ‘ใ€œ๏ผ’ๆ‹ใฎQRSๆณขใŒ่„ฑ่ฝใ™ใ‚‹ๅฟƒๆˆฟๅฟƒๅฎคไผๅฐŽ้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใ€‚1ใ€œ2ๆ‹ใฎQRS่„ฑ่ฝใงใ‚ใ‚Œใฐใ€็—‡็Šถใ‚’่จดใˆใ‚‹ใ“ใจใฏๅฐ‘ใชใ„ใŒใ€2๏ผš1ๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏไปฅไธŠใฎ้ซ˜ๅบฆๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใงใฏๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซๆบ–ใ˜ใŸ็ตŒ้Ž่ฆณๅฏŸใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซ้€ฒ่กŒใ™ใ‚Œใฐใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใฎ้ฉๅฟœใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200213 + Mobitz type II second degree atrioventricular block + ใ‚‚ใณใฃใค๏ผ’ใŒใŸใถใ‚ใฃใ ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ - + Mobitz2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ + ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ - - 9 - PๆณขใŒๅฟƒๅฎคใซไผๅฐŽใ›ใšใ€PๆณขใจQRSๆณขใŒๅ…จใ็‹ฌ็ซ‹ใ—ใŸ่ชฟๅพ‹ใ‚’ใจใ‚‹ใ€‚่ƒŽๅ…ใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Š๏ผˆๅ…ˆๅคฉๆ€งๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ๏ผ‰ใ€ใ“ใฎๅ ดๅˆใ€ๆŠ—SS-AๆŠ—ไฝ“ใ€ๆŠ—SS-BๆŠ—ไฝ“้™ฝๆ€งใฎๆฏใ‹ใ‚‰ใฎๅ‡บ็”Ÿๅ…ใฎใ“ใจใŒๅคšใ„ใ€‚ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ€ๅŽŸๅ› ไธๆ˜Žใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—‡ๅ€™ๆ€งๅพ่„ˆใ€ๅฟƒๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใ€ไฝŽๆ‹ๅ‡บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใ‚’่กŒใชใˆใฐไบˆๅพŒใฏๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็„กๆฒป็™‚ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200214 - + + 9 + PๆณขใŒๅฟƒๅฎคใซไผๅฐŽใ›ใšใ€PๆณขใจQRSๆณขใŒๅ…จใ็‹ฌ็ซ‹ใ—ใŸ่ชฟๅพ‹ใ‚’ใจใ‚‹ใ€‚่ƒŽๅ…ใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Š๏ผˆๅ…ˆๅคฉๆ€งๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ๏ผ‰ใ€ใ“ใฎๅ ดๅˆใ€ๆŠ—SS-AๆŠ—ไฝ“ใ€ๆŠ—SS-BๆŠ—ไฝ“้™ฝๆ€งใฎๆฏใ‹ใ‚‰ใฎๅ‡บ็”Ÿๅ…ใฎใ“ใจใŒๅคšใ„ใ€‚ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ€ๅŽŸๅ› ไธๆ˜Žใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—‡ๅ€™ๆ€งๅพ่„ˆใ€ๅฟƒๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใ€ไฝŽๆ‹ๅ‡บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใ‚’่กŒใชใˆใฐไบˆๅพŒใฏๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็„กๆฒป็™‚ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200214 + Complete atrio-ventricular block + ใ‹ใ‚“ใœใ‚“ใผใ†ใ—ใคใถใ‚ใฃใ ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ - + + ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ - - 13 - ๅˆบๆฟ€ไผๅฐŽ็ณปใฎๅทฆ่„šใ‚‚ใ—ใใฏๅณ่„šใฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅน…ใฎๅบƒใ„QRSใงใ€QRSๆ™‚้–“ใฏ0.12็ง’ไปฅไธŠใจใชใ‚‹ใ€‚ๅคšใใฏ็‰น็™บๆ€งใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใ€‚่„šใƒ–ใƒญใƒƒใ‚ฏใฎใฟใงใฏๆฒป็™‚ใฎๅฟ…่ฆใฏใชใ„ใ€‚็‰น็™บไพ‹ใฎไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ - 2200215 - + + 13 + ๅˆบๆฟ€ไผๅฐŽ็ณปใฎๅทฆ่„šใ‚‚ใ—ใใฏๅณ่„šใฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅน…ใฎๅบƒใ„QRSใงใ€QRSๆ™‚้–“ใฏ0.12็ง’ไปฅไธŠใจใชใ‚‹ใ€‚ๅคšใใฏ็‰น็™บๆ€งใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใ€‚่„šใƒ–ใƒญใƒƒใ‚ฏใฎใฟใงใฏๆฒป็™‚ใฎๅฟ…่ฆใฏใชใ„ใ€‚็‰น็™บไพ‹ใฎไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ + NANDO:2200215 + Bundle branch block + ใใ‚ƒใใถใ‚ใฃใ ่„šใƒ–ใƒญใƒƒใ‚ฏ - - - + ่„šใƒ–ใƒญใƒƒใ‚ฏ - - 67 - 2็จฎ้กžไปฅไธŠใฎQRSๆณขๅฝขใฎๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ€‚ใปใจใ‚“ใฉใŒๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ไผดใ‚ใชใ„ใ€‚้‹ๅ‹•่ฒ ่ทใงๅ†็พๆ€งใ‚’ใ‚‚ใฃใฆ๏ผŒๅฟƒๅฎคๆ‹ๆ•ฐ200 ไปฅไธŠใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚„ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏใ€้‹ๅ‹•ๅˆถ้™ใŒๅฟ…่ฆใงใ€่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ๅ˜ๅฝขๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใจๆฏ”่ผƒใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใซ้–ขใ—ใฆใฏใ„ใพใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚ - 2200216 - + + 67 + 2็จฎ้กžไปฅไธŠใฎQRSๆณขๅฝขใฎๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ€‚ใปใจใ‚“ใฉใŒๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ไผดใ‚ใชใ„ใ€‚้‹ๅ‹•่ฒ ่ทใงๅ†็พๆ€งใ‚’ใ‚‚ใฃใฆ๏ผŒๅฟƒๅฎคๆ‹ๆ•ฐ200 ไปฅไธŠใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚„ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏใ€้‹ๅ‹•ๅˆถ้™ใŒๅฟ…่ฆใงใ€่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ๅ˜ๅฝขๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใจๆฏ”่ผƒใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใซ้–ขใ—ใฆใฏใ„ใพใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚ + NANDO:2200216 + Polymorphic ventricular premature beat + ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใ—ใคใใŒใ„ใ—ใ‚…ใ†ใ—ใ‚…ใ ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ - + + ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ - - 26 - WPW็—‡ๅ€™็พคใฏฮ”ๆณขใ€PQๆ™‚้–“็Ÿญ็ธฎใ€QRSๅน…ใฎๅปถ้•ทใชใฉ็‰นๅพด็š„ใชๅฟƒ้›ปๅ›ณใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ไธŠๅฎค้ ปๆ‹ไธญใฎๅฟƒ้›ปๅ›ณใฏใปใจใ‚“ใฉใฎๅ ดๅˆๅน…ใฎ็‹ญใ„QRSๆณขใงใ€ไธ‹่จ˜ใซ่ฟฐในใ‚‹ใ‚ˆใ†ใซๆˆฟๅฎค็ต็ฏ€ใ‚’้ †ไผๅฐŽ๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคใธไผๅฐŽใ™ใ‚‹๏ผ‰ใ€ๅ‰ฏไผๅฐŽ่ทฏใ‚’้€†ไผๅฐŽ๏ผˆๅฟƒๅฎคใ‹ใ‚‰ๅฟƒๆˆฟใธ้€†ไผๅฐŽ๏ผ‰ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ—ใŸๅ ดๅˆใ€ๅฟƒๆˆฟ็ดฐๅ‹•ใซไผดใ†ๅฝๆ€งๅฟƒๅฎค้ ปๆ‹ใซใ‚ˆใ‚‹็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŒใ€WPW็—‡ๅ€™็พคใฎ1%ไปฅไธ‹ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ใใฎๅคšใใฏ10ไปฃไปฅๅพŒใงใ‚ใ‚‹ใ€‚้ ปๆ‹็™บไฝœใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ่–ฌ็‰ฉๆฒป็™‚ใพใŸใฏใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ใซไฝฟ็”จไธ่ƒฝใชๅ ดๅˆใพใŸใฏๆ‚ฃ่€…ใŒ่–ฌ็‰ฉๆฒป็™‚ใฎ็ถ™็ถšใ‚’ๆœ›ใพใชใ„ๅ ดๅˆใซใฏใ€้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ไธ€่ˆฌใฎๆญฃๅธธไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใ€‚ - 2200217 - + + 26 + WPW็—‡ๅ€™็พคใฏฮ”ๆณขใ€PQๆ™‚้–“็Ÿญ็ธฎใ€QRSๅน…ใฎๅปถ้•ทใชใฉ็‰นๅพด็š„ใชๅฟƒ้›ปๅ›ณใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ไธŠๅฎค้ ปๆ‹ไธญใฎๅฟƒ้›ปๅ›ณใฏใปใจใ‚“ใฉใฎๅ ดๅˆๅน…ใฎ็‹ญใ„QRSๆณขใงใ€ไธ‹่จ˜ใซ่ฟฐในใ‚‹ใ‚ˆใ†ใซๆˆฟๅฎค็ต็ฏ€ใ‚’้ †ไผๅฐŽ๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคใธไผๅฐŽใ™ใ‚‹๏ผ‰ใ€ๅ‰ฏไผๅฐŽ่ทฏใ‚’้€†ไผๅฐŽ๏ผˆๅฟƒๅฎคใ‹ใ‚‰ๅฟƒๆˆฟใธ้€†ไผๅฐŽ๏ผ‰ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ—ใŸๅ ดๅˆใ€ๅฟƒๆˆฟ็ดฐๅ‹•ใซไผดใ†ๅฝๆ€งๅฟƒๅฎค้ ปๆ‹ใซใ‚ˆใ‚‹็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŒใ€WPW็—‡ๅ€™็พคใฎ1%ไปฅไธ‹ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ใใฎๅคšใใฏ10ไปฃไปฅๅพŒใงใ‚ใ‚‹ใ€‚้ ปๆ‹็™บไฝœใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ่–ฌ็‰ฉๆฒป็™‚ใพใŸใฏใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ใซไฝฟ็”จไธ่ƒฝใชๅ ดๅˆใพใŸใฏๆ‚ฃ่€…ใŒ่–ฌ็‰ฉๆฒป็™‚ใฎ็ถ™็ถšใ‚’ๆœ›ใพใชใ„ๅ ดๅˆใซใฏใ€้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ไธ€่ˆฌใฎๆญฃๅธธไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใ€‚ + NANDO:2200217 + Supraventricular tachycardia due to WPW syndrome + ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ๏ผˆใ ใถใ‚‹ใดใƒผใ ใถใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰ ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ + - + + ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - 27 - ่ค‡ๆ•ฐใพใŸใฏๅบƒใ„็ฏ„ๅ›ฒใง็•ฐๅธธ่‡ชๅ‹•่ƒฝใฎไบข้€ฒใ‚„ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅไธ‹ใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚1๏ผŽ2ใ‚ซๆ‰€ไปฅไธŠใฎ็•ฐใชใฃใŸ้ƒจไฝใฎๅฟƒๆˆฟใ‹ใ‚‰้ ปๆ‹ใŒ็™บ็”Ÿใ™ใ‚‹๏ผŽๅ„ใ€…ใฎๅฟƒๆˆฟๆณขใฎๅฟƒๆˆฟ่ˆˆๅฅฎ้ †ไฝใ‚„ๅฟƒๆˆฟ้›ปไฝใŒ็•ฐใชใ‚‹๏ผŽๅคšใใฏnarrow QRSใงใ‚ใ‚‹ใŒใ€ๅฟƒๅฎคๅ†…ๅค‰่กŒไผๅฐŽใซใ‚ˆใ‚Š๏ผŒๅน…ๅบƒใ„QRSๆณขใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ2๏ผŽๅฟƒๆˆฟใƒšใƒผใ‚ทใƒณใ‚ฐใซใ‚ˆใ‚‹ไธๆ•ด่„ˆใฎ่ช˜็™บ๏ผŒๅœๆญขใฏใงใใชใ„๏ผŽ3๏ผŽ้ ปๆ‹ไธญใฎๅฟƒๆˆฟใฎ้ซ˜้ ปๅบฆๅˆบๆฟ€ใงใฏไธ€้Žๆ€งใซ้ ปๆ‹ใŒๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ ปๆ‹ใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใŒใคใ‘ใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้ ปๆ‹ใŒๆŒ็ถšใ™ใ‚Œใฐใ€้ ปๆ‹ไพๅญ˜ๆ€งๅฟƒ็ญ‹็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200218 - + + 27 + ่ค‡ๆ•ฐใพใŸใฏๅบƒใ„็ฏ„ๅ›ฒใง็•ฐๅธธ่‡ชๅ‹•่ƒฝใฎไบข้€ฒใ‚„ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅไธ‹ใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚1๏ผŽ2ใ‚ซๆ‰€ไปฅไธŠใฎ็•ฐใชใฃใŸ้ƒจไฝใฎๅฟƒๆˆฟใ‹ใ‚‰้ ปๆ‹ใŒ็™บ็”Ÿใ™ใ‚‹๏ผŽๅ„ใ€…ใฎๅฟƒๆˆฟๆณขใฎๅฟƒๆˆฟ่ˆˆๅฅฎ้ †ไฝใ‚„ๅฟƒๆˆฟ้›ปไฝใŒ็•ฐใชใ‚‹๏ผŽๅคšใใฏnarrow QRSใงใ‚ใ‚‹ใŒใ€ๅฟƒๅฎคๅ†…ๅค‰่กŒไผๅฐŽใซใ‚ˆใ‚Š๏ผŒๅน…ๅบƒใ„QRSๆณขใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ2๏ผŽๅฟƒๆˆฟใƒšใƒผใ‚ทใƒณใ‚ฐใซใ‚ˆใ‚‹ไธๆ•ด่„ˆใฎ่ช˜็™บ๏ผŒๅœๆญขใฏใงใใชใ„๏ผŽ3๏ผŽ้ ปๆ‹ไธญใฎๅฟƒๆˆฟใฎ้ซ˜้ ปๅบฆๅˆบๆฟ€ใงใฏไธ€้Žๆ€งใซ้ ปๆ‹ใŒๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ ปๆ‹ใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใŒใคใ‘ใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้ ปๆ‹ใŒๆŒ็ถšใ™ใ‚Œใฐใ€้ ปๆ‹ไพๅญ˜ๆ€งๅฟƒ็ญ‹็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200218 + Multiple atrial tachycardia + ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใผใ†ใฒใ‚“ใฑใ ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹ - + + ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹ - - 28 - ๆˆฟๅฎค็ต็ฏ€ใŠใ‚ˆใณใใฎๅ‘จๅ›ฒใฎๅฟƒๆˆฟ็ญ‹ใ‚’ไป‹ใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผๆ€ง้ ปๆ‹ใง๏ผŒไผๅฐŽ้€ŸๅบฆใŒ้€Ÿใ„้€ŸไผๅฐŽ่ทฏ๏ผˆfast pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้…ใ„้…ไผๅฐŽ่ทฏ๏ผˆslow pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้žๅธธใซ้…ใ„ไผๅฐŽ่ทฏ๏ผˆsuper slow pathway๏ผ‰ใŒ้ ปๆ‹ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚Slow-Fastๅž‹ใฎๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฏๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฎ80๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ใ€‚ใ“ใฎๅž‹ใฏใ€right posterior extensionใŒ้ †่กŒๆ€ง๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคๅดใธใฎไผๅฐŽ๏ผ‰ใฎ้…ไผๅฐŽ่ทฏใจ่จ€ใ‚ใ‚ŒใฆใŠใ‚Šใ€ใ“ใ“ใ‚’ไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒๆˆฟๅฎค็ต็ฏ€ใ‚’ไป‹ใ—ใฆleft posterior extensionใธไผๅฐŽใ™ใ‚‹ใ€‚ใ“ใฎ่ˆˆๅฅฎใฏใ€ๅทฆๆˆฟใจๅ† ้™่„ˆๆดž้–“ใฎmuscular connectionใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžใธไผๅฐŽใ—ใ€ๅ† ้™่„ˆๆดžๅ†…ใฎ็ญ‹ๆ€ง็ต„็น”ใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžๅ…ฅๅฃ้ƒจใซ่ˆˆๅฅฎใŒไผๅฐŽใ—ใ€ใ“ใ“ใ‹ใ‚‰right posterior extensionใธ่ˆˆๅฅฎใŒไผๅฐŽใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้€ŸไผๅฐŽ่ทฏใฏใ€ๆˆฟๅฎค็ต็ฏ€ใ‚‚ใ—ใใฏleft posterior extensionใฎไธ€้ƒจใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸใ€้…ไผๅฐŽ่ทฏใ‹ใ‚‰ๆˆฟๅฎค็ต็ฏ€ใธไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒใ€Kochไธ‰่ง’ใฎๅณๆˆฟๅดใ‚’ไผๅฐŽใ™ใ‚‹ใจใฎ่ชฌใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใฎ็™บ็—‡ใฏๅฐ‘ใชใใ€ๅนผๅ…ใ€ๅญฆ็ซฅใ€ๆ€ๆ˜ฅๆœŸใซใ‹ใ‘ใฆ้ ปๅบฆใฏๅข—ๅŠ ใ™ใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใฎ้ฉๅฟœใฏใ€ๅคฑ็ฅžใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚„ใ€่ปฝ็—‡็Šถใงใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ไผดใ†้ ปๆ‹็™บไฝœใฎๆ—ขๅพ€ใŒใ‚ใ‚‹ๅ ดๅˆใ€ใพใŸใฏใ€้ ปๆ‹็™บไฝœใŒใ‚ใ‚Š๏ผŒ่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ไฝฟ็”จไธ่ƒฝใพใŸใฏๆ‚ฃ่€…ใŒๆœ›ใพใชใ„ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ - 2200219 - + + 28 + ๆˆฟๅฎค็ต็ฏ€ใŠใ‚ˆใณใใฎๅ‘จๅ›ฒใฎๅฟƒๆˆฟ็ญ‹ใ‚’ไป‹ใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผๆ€ง้ ปๆ‹ใง๏ผŒไผๅฐŽ้€ŸๅบฆใŒ้€Ÿใ„้€ŸไผๅฐŽ่ทฏ๏ผˆfast pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้…ใ„้…ไผๅฐŽ่ทฏ๏ผˆslow pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้žๅธธใซ้…ใ„ไผๅฐŽ่ทฏ๏ผˆsuper slow pathway๏ผ‰ใŒ้ ปๆ‹ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚Slow-Fastๅž‹ใฎๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฏๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฎ80๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ใ€‚ใ“ใฎๅž‹ใฏใ€right posterior extensionใŒ้ †่กŒๆ€ง๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคๅดใธใฎไผๅฐŽ๏ผ‰ใฎ้…ไผๅฐŽ่ทฏใจ่จ€ใ‚ใ‚ŒใฆใŠใ‚Šใ€ใ“ใ“ใ‚’ไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒๆˆฟๅฎค็ต็ฏ€ใ‚’ไป‹ใ—ใฆleft posterior extensionใธไผๅฐŽใ™ใ‚‹ใ€‚ใ“ใฎ่ˆˆๅฅฎใฏใ€ๅทฆๆˆฟใจๅ† ้™่„ˆๆดž้–“ใฎmuscular connectionใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžใธไผๅฐŽใ—ใ€ๅ† ้™่„ˆๆดžๅ†…ใฎ็ญ‹ๆ€ง็ต„็น”ใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžๅ…ฅๅฃ้ƒจใซ่ˆˆๅฅฎใŒไผๅฐŽใ—ใ€ใ“ใ“ใ‹ใ‚‰right posterior extensionใธ่ˆˆๅฅฎใŒไผๅฐŽใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้€ŸไผๅฐŽ่ทฏใฏใ€ๆˆฟๅฎค็ต็ฏ€ใ‚‚ใ—ใใฏleft posterior extensionใฎไธ€้ƒจใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸใ€้…ไผๅฐŽ่ทฏใ‹ใ‚‰ๆˆฟๅฎค็ต็ฏ€ใธไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒใ€Kochไธ‰่ง’ใฎๅณๆˆฟๅดใ‚’ไผๅฐŽใ™ใ‚‹ใจใฎ่ชฌใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใฎ็™บ็—‡ใฏๅฐ‘ใชใใ€ๅนผๅ…ใ€ๅญฆ็ซฅใ€ๆ€ๆ˜ฅๆœŸใซใ‹ใ‘ใฆ้ ปๅบฆใฏๅข—ๅŠ ใ™ใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใฎ้ฉๅฟœใฏใ€ๅคฑ็ฅžใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚„ใ€่ปฝ็—‡็Šถใงใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ไผดใ†้ ปๆ‹็™บไฝœใฎๆ—ขๅพ€ใŒใ‚ใ‚‹ๅ ดๅˆใ€ใพใŸใฏใ€้ ปๆ‹็™บไฝœใŒใ‚ใ‚Š๏ผŒ่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ไฝฟ็”จไธ่ƒฝใพใŸใฏๆ‚ฃ่€…ใŒๆœ›ใพใชใ„ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ + NANDO:2200219 + + 6ใŠใ‚ˆใณ7ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ 6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹ Other Supraventricular tachycardia - + 6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹ - - 33 - ๅทฆ่„šๅพŒๆž้ ˜ๅŸŸใ‚’ๅˆฉ็”จใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผใซใ‚ˆใ‚‹ๅฟƒๅฎค้ ปๆ‹ใ€‚ๅทฆ่„šๅพŒๆž่ฟ‘ๅ‚ใฎ้ƒจไฝใซslow conductionใ‚’่ตทใ“ใ™้ƒจไฝใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅทฆๅฎคๅ†…ใซๅญ˜ๅœจใ™ใ‚‹false tendonใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใฎslow conductionใ‚’ใŠใ“ใ™้ƒจไฝใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ‹ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚’่กŒใ†ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ๅฅๅธธๆˆไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใฎ่ฆณๅฏŸใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200220 - + + 33 + ๅทฆ่„šๅพŒๆž้ ˜ๅŸŸใ‚’ๅˆฉ็”จใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผใซใ‚ˆใ‚‹ๅฟƒๅฎค้ ปๆ‹ใ€‚ๅทฆ่„šๅพŒๆž่ฟ‘ๅ‚ใฎ้ƒจไฝใซslow conductionใ‚’่ตทใ“ใ™้ƒจไฝใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅทฆๅฎคๅ†…ใซๅญ˜ๅœจใ™ใ‚‹false tendonใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใฎslow conductionใ‚’ใŠใ“ใ™้ƒจไฝใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ‹ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚’่กŒใ†ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ๅฅๅธธๆˆไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใฎ่ฆณๅฏŸใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200220 + Verapamil sensitive ventricular tachycardia + ในใ‚‰ใฑใฟใ‚‹ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹ - + ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹ - - 32 - ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹(catecholaminergic polymorphic ventricular tachycardia: CPVT) ใฏใ€้‹ๅ‹•ใ‚„ๆƒ…ๅ‹•ใฎๅค‰ๅŒ–ใ€ใ‚ใ‚‹ใ„ใฏใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณๆŠ•ไธŽใงใ€ไบŒๆ–นๅ‘ๆ€งใ‚ใ‚‹ใ„ใฏๅคšๅฝขๆ€งใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ€ๅฟƒๅฎค็ดฐๅ‹•ใซ็งป่กŒใ—ใฆๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™่‡ดๆญป็š„ไธๆ•ด่„ˆใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใ€‚ใƒชใ‚ขใƒŽใ‚ธใƒณๅ—ๅฎนไฝ“RyR2 ใ‚„calsequestrin 2 (CASQ2)ใฎ้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅฐ่ƒžไฝ“ใ‹ใ‚‰ๅคง้‡ใฎCa2+ๆ”พๅ‡บใŒใŠใ“ใ‚Šใ€ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใ‚’ๆฉŸๅบใจใ™ใ‚‹ๅฟƒๅฎค้ ปๆ‹ใŒ่ตทใ“ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌๅ‰คๆŠ•ไธŽใ‚’่กŒใชใ‚ใชใ‹ใฃใŸๅ ดๅˆๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚‹ใ€‚่–ฌๅ‰คๆฒป็™‚ใ‚’่กŒใชใฃใฆใ‚‚10ๅนดใง15ใ‹ใ‚‰40%ๆญปไบกใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200221 - + + 32 + ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹(catecholaminergic polymorphic ventricular tachycardia: CPVT) ใฏใ€้‹ๅ‹•ใ‚„ๆƒ…ๅ‹•ใฎๅค‰ๅŒ–ใ€ใ‚ใ‚‹ใ„ใฏใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณๆŠ•ไธŽใงใ€ไบŒๆ–นๅ‘ๆ€งใ‚ใ‚‹ใ„ใฏๅคšๅฝขๆ€งใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ€ๅฟƒๅฎค็ดฐๅ‹•ใซ็งป่กŒใ—ใฆๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™่‡ดๆญป็š„ไธๆ•ด่„ˆใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใ€‚ใƒชใ‚ขใƒŽใ‚ธใƒณๅ—ๅฎนไฝ“RyR2 ใ‚„calsequestrin 2 (CASQ2)ใฎ้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅฐ่ƒžไฝ“ใ‹ใ‚‰ๅคง้‡ใฎCa2+ๆ”พๅ‡บใŒใŠใ“ใ‚Šใ€ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใ‚’ๆฉŸๅบใจใ™ใ‚‹ๅฟƒๅฎค้ ปๆ‹ใŒ่ตทใ“ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌๅ‰คๆŠ•ไธŽใ‚’่กŒใชใ‚ใชใ‹ใฃใŸๅ ดๅˆๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚‹ใ€‚่–ฌๅ‰คๆฒป็™‚ใ‚’่กŒใชใฃใฆใ‚‚10ๅนดใง15ใ‹ใ‚‰40%ๆญปไบกใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200221 + Catecholaminergic polymorphic ventricular tachycardia + ใ‹ใฆใ“ใ‚‰ใฟใ‚“ใ‚†ใ†ใฏใคใŸใ‘ใ„ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ + - + CPVT ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ - - 34 - ๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Šใ€็จ€ใซๅทฆๅฎคๆตๅ‡บ่ทฏใ‚„ใ€ๅทฆๅ† ๅฐ–ใ€่‚บๅ‹•่„ˆ่ตทๆบใชใฉใŒใ‚ใ‚‹ใ€‚ไปฅไธ‹ใฎๆฉŸๅบใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚โ‘ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆadenosine sensitive VT๏ผ‰้‹ๅ‹•่ช˜็™บๆ€งใฎใ‚‚ใฎใจ๏ผŒๅๅพฉๆ€งใงๆ•ฐๆ‹ใฎๆดž่ชฟๅพ‹ใ‚’ๆŒŸใ‚“ใงไธ€ๆ—ฅไธญ้ ปๆ‹ใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚‚ใฎใจใŒใ‚ใ‚‹๏ผŽๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Š๏ผŒๅทฆๅฎค่ตทๆบใฎใ‚‚ใฎใฏ10%็จ‹ๅบฆใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹๏ผŽcAMPใฎ้–ขไธŽใ™ใ‚‹ๆฟ€็™บๆดปๅ‹•ใจใ•ใ‚Œใฆใ„ใ‚‹๏ผŽใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATP๏ผŒใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ™ใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บ๏ผŒๅœๆญขใŒๅฏ่ƒฝใงใ‚ใ‚Š๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„โ‘กใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆpropranolol sensitive VT๏ผ‰ๅณๅฎค๏ผŒ็จ€ใซๅทฆๅฎค่ตทๆบใงใ‚ใ‚Š๏ผŒใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๆ€ง่‡ชๅ‹•่ƒฝใŒๆฉŸๅบใงใ‚ใ‚‹๏ผŽVTใฏใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ›ใš๏ผŒใจใใซใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATPใงๆŠ‘ๅˆถใ•ใ‚Œ๏ผŒใ‚คใ‚ฝใƒ—ใƒญใƒ†ใƒฌใƒŽใƒผใƒซๆŠ•ไธŽ๏ผŒ้‹ๅ‹•ใง่ช˜็™บใ•ใ‚Œใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บใ‚‚ๅœๆญขใ‚‚ใ•ใ‚Œใš๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„๏ผŽ็ช็„ถๆญปใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใŒใ€็จ€ใซๆตๅ‡บ่ทฏๅž‹ๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’ๅฅ‘ๆฉŸใซๅฟƒๅฎค็ดฐๅ‹•ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ - 2200222 - + + 34 + ๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Šใ€็จ€ใซๅทฆๅฎคๆตๅ‡บ่ทฏใ‚„ใ€ๅทฆๅ† ๅฐ–ใ€่‚บๅ‹•่„ˆ่ตทๆบใชใฉใŒใ‚ใ‚‹ใ€‚ไปฅไธ‹ใฎๆฉŸๅบใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚โ‘ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆadenosine sensitive VT๏ผ‰้‹ๅ‹•่ช˜็™บๆ€งใฎใ‚‚ใฎใจ๏ผŒๅๅพฉๆ€งใงๆ•ฐๆ‹ใฎๆดž่ชฟๅพ‹ใ‚’ๆŒŸใ‚“ใงไธ€ๆ—ฅไธญ้ ปๆ‹ใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚‚ใฎใจใŒใ‚ใ‚‹๏ผŽๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Š๏ผŒๅทฆๅฎค่ตทๆบใฎใ‚‚ใฎใฏ10%็จ‹ๅบฆใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹๏ผŽcAMPใฎ้–ขไธŽใ™ใ‚‹ๆฟ€็™บๆดปๅ‹•ใจใ•ใ‚Œใฆใ„ใ‚‹๏ผŽใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATP๏ผŒใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ™ใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บ๏ผŒๅœๆญขใŒๅฏ่ƒฝใงใ‚ใ‚Š๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„โ‘กใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆpropranolol sensitive VT๏ผ‰ๅณๅฎค๏ผŒ็จ€ใซๅทฆๅฎค่ตทๆบใงใ‚ใ‚Š๏ผŒใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๆ€ง่‡ชๅ‹•่ƒฝใŒๆฉŸๅบใงใ‚ใ‚‹๏ผŽVTใฏใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ›ใš๏ผŒใจใใซใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATPใงๆŠ‘ๅˆถใ•ใ‚Œ๏ผŒใ‚คใ‚ฝใƒ—ใƒญใƒ†ใƒฌใƒŽใƒผใƒซๆŠ•ไธŽ๏ผŒ้‹ๅ‹•ใง่ช˜็™บใ•ใ‚Œใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บใ‚‚ๅœๆญขใ‚‚ใ•ใ‚Œใš๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„๏ผŽ็ช็„ถๆญปใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใŒใ€็จ€ใซๆตๅ‡บ่ทฏๅž‹ๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’ๅฅ‘ๆฉŸใซๅฟƒๅฎค็ดฐๅ‹•ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ + NANDO:2200222 + + 9ใŠใ‚ˆใณ10ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ 9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹ Other Ventricular tachycardia - + 9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹ - - 34 - 2200223 - + + 34 + NANDO:2200223 + adenosine sensitive VT + ใ‚ใงใฎใ—ใ‚“ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹ - + + Adenosine-sensitive ventricular tachycardia + ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งVT + ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹ - - 34 - 2200224 - + + 34 + NANDO:2200224 + propranolol sensitive VT + ใทใ‚ใทใ‚‰ใฎใ‚ใƒผใ‚‹ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹ - + + ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹ - - 47 - ๅฟƒๆˆฟๅ†…ใฎใƒžใ‚ฏใƒญใƒชใ‚จใƒณใƒˆใƒชใƒผใงใ‚ใ‚Šใ€้€šๅธธๅž‹ใงใฏไธ‰ๅฐ–ๅผๅ‘จๅ›ฒใ‚’ๅๆ™‚่จˆๅ›ž่ปขๆ–นๅ‘ใ‚‚ใ—ใใฏๅๆ™‚่จˆๆ–นๅ‘ใซ๏ผŒ้ž้€šๅธธๅž‹ใงใฏใใ‚Œไปฅๅค–ใฎๅ›ž่ทฏใ‚’ๅˆฉ็”จใ™ใ‚‹๏ผŽ้€šๅธธๅž‹ใฏไธŠๅคง้™่„ˆ๏ผŒๅˆ†็•Œ็จœใ€ไธ‹ๅคง้™่„ˆใ€Eustachianๅผใ€ๅ† ้™่„ˆๆดžใŒ่งฃๅ‰–ๅญฆ็š„้šœๅฃใจใชใ‚Šใ€ใใฎๅค–ๅดใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใจใชใ‚‹๏ผŽ็ทฉๅพไผๅฐŽใฏใชใ„ใŒ๏ผŒไธ‹ๅคง้™่„ˆโ”€ไธ‰ๅฐ–ๅผ่ผชๅณฝ้ƒจ(cavo-tricuspid isthmus: CTI)ใŒๅ…ฑ้€šใฎๅ›ž่ทฏใงใ‚ใ‚‹๏ผŽๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„ไพ‹ใฎ็™บ็”Ÿ้ ปๅบฆใฏๆฅตใ‚ใฆๅฐ‘ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ้™ๅฎšใ—ใฆ่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚1๏ผš1ๆˆฟๅฎคไผๅฐŽใ‚’ใใŸใ™ใจๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚้•ทๆœŸใซๅฟƒๆˆฟ็ฒ—ๅ‹•ใŒ็ถšใใจใ€ๅฟƒ็ญ‹็—‡๏ผˆๅฟƒๆฉŸ่ƒฝไธๅ…จ๏ผ‰ใ€่ก€ๆ “ใ€ๅกžๆ “็—‡ใฎๅŽŸๅ› ใจใชใ‚Šใ†ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚ - 2200225 - + + 47 + ๅฟƒๆˆฟๅ†…ใฎใƒžใ‚ฏใƒญใƒชใ‚จใƒณใƒˆใƒชใƒผใงใ‚ใ‚Šใ€้€šๅธธๅž‹ใงใฏไธ‰ๅฐ–ๅผๅ‘จๅ›ฒใ‚’ๅๆ™‚่จˆๅ›ž่ปขๆ–นๅ‘ใ‚‚ใ—ใใฏๅๆ™‚่จˆๆ–นๅ‘ใซ๏ผŒ้ž้€šๅธธๅž‹ใงใฏใใ‚Œไปฅๅค–ใฎๅ›ž่ทฏใ‚’ๅˆฉ็”จใ™ใ‚‹๏ผŽ้€šๅธธๅž‹ใฏไธŠๅคง้™่„ˆ๏ผŒๅˆ†็•Œ็จœใ€ไธ‹ๅคง้™่„ˆใ€Eustachianๅผใ€ๅ† ้™่„ˆๆดžใŒ่งฃๅ‰–ๅญฆ็š„้šœๅฃใจใชใ‚Šใ€ใใฎๅค–ๅดใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใจใชใ‚‹๏ผŽ็ทฉๅพไผๅฐŽใฏใชใ„ใŒ๏ผŒไธ‹ๅคง้™่„ˆโ”€ไธ‰ๅฐ–ๅผ่ผชๅณฝ้ƒจ(cavo-tricuspid isthmus: CTI)ใŒๅ…ฑ้€šใฎๅ›ž่ทฏใงใ‚ใ‚‹๏ผŽๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„ไพ‹ใฎ็™บ็”Ÿ้ ปๅบฆใฏๆฅตใ‚ใฆๅฐ‘ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ้™ๅฎšใ—ใฆ่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚1๏ผš1ๆˆฟๅฎคไผๅฐŽใ‚’ใใŸใ™ใจๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚้•ทๆœŸใซๅฟƒๆˆฟ็ฒ—ๅ‹•ใŒ็ถšใใจใ€ๅฟƒ็ญ‹็—‡๏ผˆๅฟƒๆฉŸ่ƒฝไธๅ…จ๏ผ‰ใ€่ก€ๆ “ใ€ๅกžๆ “็—‡ใฎๅŽŸๅ› ใจใชใ‚Šใ†ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200225 + Atrial flutter + ใ—ใ‚“ใผใ†ใใฉใ† ๅฟƒๆˆฟ็ฒ—ๅ‹• - + ๅฟƒๆˆฟ็ฒ—ๅ‹• - - 46 - ๅฟƒๆˆฟใŒ็„ก็งฉๅบ้ซ˜้ ปๅบฆใซ่ˆˆๅฅฎใ™ใ‚‹ไธๆ•ด่„ˆใงใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใชใฉๅฟƒๆˆฟ็ญ‹ใซ่ฒ ๆ‹…ใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚ๅฐๅ…ใ‚„่‹ฅๅนด่€…ใซใŠใ„ใฆๅŸบ็คŽๅฟƒ็–พๆ‚ฃใฎใชใ„ๅญค็ซ‹ๆ€งๅฟƒๆˆฟ็ดฐๅ‹•ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๆดž่ชฟๅพ‹ใซๆˆปใ‚‰ใชใ‘ใ‚Œใฐ็›ดๆต้€š้›ปใ™ใ‚‹ใ€‚้ ปๅ›žใฎๅ ดๅˆใ‚„ๆŒ็ถšๆ€งใฎใ‚‚ใฎใฏ่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใฃใฆ่ฆๅฎšใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งใฎใ‚‚ใฎใฏใ€่ก€ๆ “ๅกžๆ “็—‡ใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 2200226 - + + 46 + ๅฟƒๆˆฟใŒ็„ก็งฉๅบ้ซ˜้ ปๅบฆใซ่ˆˆๅฅฎใ™ใ‚‹ไธๆ•ด่„ˆใงใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใชใฉๅฟƒๆˆฟ็ญ‹ใซ่ฒ ๆ‹…ใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚ๅฐๅ…ใ‚„่‹ฅๅนด่€…ใซใŠใ„ใฆๅŸบ็คŽๅฟƒ็–พๆ‚ฃใฎใชใ„ๅญค็ซ‹ๆ€งๅฟƒๆˆฟ็ดฐๅ‹•ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๆดž่ชฟๅพ‹ใซๆˆปใ‚‰ใชใ‘ใ‚Œใฐ็›ดๆต้€š้›ปใ™ใ‚‹ใ€‚้ ปๅ›žใฎๅ ดๅˆใ‚„ๆŒ็ถšๆ€งใฎใ‚‚ใฎใฏ่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใฃใฆ่ฆๅฎšใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งใฎใ‚‚ใฎใฏใ€่ก€ๆ “ๅกžๆ “็—‡ใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:2200226 + Atrial fibrillation + ใ—ใ‚“ใผใ†ใ•ใ„ใฉใ† ๅฟƒๆˆฟ็ดฐๅ‹• - + ๅฟƒๆˆฟ็ดฐๅ‹• - - 30 - ๅฟƒๅฎคใŒ็„ก็งฉๅบใซ่ˆˆๅฅฎใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ€ๅฟƒ้›ปๅ›ณใงใฏๅŸบ็ทšใฎ็ดฐใ‹ใ„ๆบใ‚Œใจใ—ใฆ่จ˜้Œฒใ•ใ‚Œใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚Œใฐๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใซใฏQTๅปถ้•ท็—‡ๅ€™็พคใ€Brugada็—‡ๅ€™็พคใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€QT็Ÿญ็ธฎ็—‡ๅ€™็พคใ‚‚ๅซใ‚ใ‚‹ใŒใ€็‰น็™บๆ€งๅฟƒๅฎค็ดฐๅ‹•ใฏใ“ใ‚Œใ‚‰ใ‚’้™คใ„ใŸๅฟƒๅฎค็ดฐๅ‹•ใงใ€่ฟ‘ๅนดๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€Jๆณข็—‡ๅ€™็พค๏ผˆๆ—ฉๆœŸๅ†ๅˆ†ๆฅต็—‡ๅ€™็พค๏ผ‰ใŒใใฎ็ฏ„็–‡ใซๅ…ฅใ‚‹ใ€‚้ ปๆ‹ใฎไบˆ้˜ฒใฏใ‚ขใƒŸใ‚ชใƒ€ใƒญใƒณๅ†…ๆœใ€ๅŠใณICDๆค่พผใฟใงใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€ใฏใฃใใ‚Šใ—ใŸไบˆๅพŒใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚ - 2200227 - + + 30 + ๅฟƒๅฎคใŒ็„ก็งฉๅบใซ่ˆˆๅฅฎใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ€ๅฟƒ้›ปๅ›ณใงใฏๅŸบ็ทšใฎ็ดฐใ‹ใ„ๆบใ‚Œใจใ—ใฆ่จ˜้Œฒใ•ใ‚Œใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚Œใฐๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใซใฏQTๅปถ้•ท็—‡ๅ€™็พคใ€Brugada็—‡ๅ€™็พคใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€QT็Ÿญ็ธฎ็—‡ๅ€™็พคใ‚‚ๅซใ‚ใ‚‹ใŒใ€็‰น็™บๆ€งๅฟƒๅฎค็ดฐๅ‹•ใฏใ“ใ‚Œใ‚‰ใ‚’้™คใ„ใŸๅฟƒๅฎค็ดฐๅ‹•ใงใ€่ฟ‘ๅนดๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€Jๆณข็—‡ๅ€™็พค๏ผˆๆ—ฉๆœŸๅ†ๅˆ†ๆฅต็—‡ๅ€™็พค๏ผ‰ใŒใใฎ็ฏ„็–‡ใซๅ…ฅใ‚‹ใ€‚้ ปๆ‹ใฎไบˆ้˜ฒใฏใ‚ขใƒŸใ‚ชใƒ€ใƒญใƒณๅ†…ๆœใ€ๅŠใณICDๆค่พผใฟใงใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€ใฏใฃใใ‚Šใ—ใŸไบˆๅพŒใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚ + NANDO:2200227 + Ventricular fibrillation + ใ—ใ‚“ใ—ใคใ•ใ„ใฉใ† ๅฟƒๅฎค็ดฐๅ‹• - + ๅฟƒๅฎค็ดฐๅ‹• - - 14 - QTๆ™‚้–“ใŒๅปถ้•ทใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€torsade de pointesใจๅ‘ผใฐใ‚Œใ‚‹ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€ๅฟƒๅฎค็ดฐๅ‹•ใชใฉใŒ่ช˜็™บใ•ใ‚Œใ€็ช็„ถๆญปใฎๅฑ้™บใฎใ‚ใ‚‹ๅฟƒ้›ปๅ›ณ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎRomano-Ward็—‡ๅ€™็พคใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎJervel-Lange-Nielsen็—‡ๅ€™็พคใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œ13็จฎ้กžใ€3็จฎ้กžใฎ้บไผๅญ็•ฐๅธธใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ‰็—‡็Šถไพ‹ใ‚„ใƒใ‚คใƒชใ‚นใ‚ฏไพ‹ใงใฏๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚ - 2200228 - + + 14 + QTๆ™‚้–“ใŒๅปถ้•ทใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€torsade de pointesใจๅ‘ผใฐใ‚Œใ‚‹ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€ๅฟƒๅฎค็ดฐๅ‹•ใชใฉใŒ่ช˜็™บใ•ใ‚Œใ€็ช็„ถๆญปใฎๅฑ้™บใฎใ‚ใ‚‹ๅฟƒ้›ปๅ›ณ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎRomano-Ward็—‡ๅ€™็พคใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎJervel-Lange-Nielsen็—‡ๅ€™็พคใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œ13็จฎ้กžใ€3็จฎ้กžใฎ้บไผๅญ็•ฐๅธธใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ‰็—‡็Šถไพ‹ใ‚„ใƒใ‚คใƒชใ‚นใ‚ฏไพ‹ใงใฏๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚ + NANDO:2200228 + Long qt syndrome QTๅปถ้•ท็—‡ๅ€™็พค + ใใ‚…ใƒผใฆใƒใƒผใˆใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + LQTS + QTๅปถ้•ท็—‡ๅ€™็พค - - 88 - ๆ˜Žใ‚‰ใ‹ใชๅฟƒ่‚ฅๅคงใ‚’ใใŸใ™ๅŽŸๅ› ็„กใๅฟƒๅฎคๅฃใฎ่‚ฅๅŽšใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅŽšใ‚’็คบใ™ใ€‚ๅทฆๅฎคใฎๆ‹กๅผตใฏใชใใ€ๅทฆๅฎคๅŽ็ธฎใฏๆญฃๅธธใ‹ไบข้€ฒใ—ใฆใ„ใ‚‹ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ้Œฏ็ถœ้…ๅˆ—ใ‚’ใจใ‚‚ใชใ†่‚ฅๅคงใ‚’็คบใ™ใ€‚ๅทฆๅฎคๆตๅ‡บ่ทฏใฎ็ญ‹่‚‰ใŒ่‚ฅๅŽšใ™ใ‚Œใฐใ€่‚ฅๅคงๅž‹้–‰ๅกžๆ€งๅฟƒ็ญ‹็—‡ใฎๅž‹ใจใชใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ๅทฆๅฎคๆ‹กๅผต้šœๅฎณใซใ‚ˆใ‚‹ๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใธใฎ็งป่กŒใซใ‚ˆใ‚‹ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200229 - + + 88 + ๆ˜Žใ‚‰ใ‹ใชๅฟƒ่‚ฅๅคงใ‚’ใใŸใ™ๅŽŸๅ› ็„กใๅฟƒๅฎคๅฃใฎ่‚ฅๅŽšใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅŽšใ‚’็คบใ™ใ€‚ๅทฆๅฎคใฎๆ‹กๅผตใฏใชใใ€ๅทฆๅฎคๅŽ็ธฎใฏๆญฃๅธธใ‹ไบข้€ฒใ—ใฆใ„ใ‚‹ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ้Œฏ็ถœ้…ๅˆ—ใ‚’ใจใ‚‚ใชใ†่‚ฅๅคงใ‚’็คบใ™ใ€‚ๅทฆๅฎคๆตๅ‡บ่ทฏใฎ็ญ‹่‚‰ใŒ่‚ฅๅŽšใ™ใ‚Œใฐใ€่‚ฅๅคงๅž‹้–‰ๅกžๆ€งๅฟƒ็ญ‹็—‡ใฎๅž‹ใจใชใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ๅทฆๅฎคๆ‹กๅผต้šœๅฎณใซใ‚ˆใ‚‹ๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใธใฎ็งป่กŒใซใ‚ˆใ‚‹ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200229 + Hypertrophic cardiomyopathy + ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - + - + ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ - - 91 - ๅŽŸๅ› ไธๆ˜Žใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅค‰ๆ€งใ€่„‚่‚ชๆตธๆฝคใ€็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ๅณๅฎคใฎๆ‹กๅคงใ‚„ๅŽ็ธฎไธๅ…จใ€ๅณๅฎค่ตทๆบใฎๅฟƒๅฎคๆ€งไธๆ•ด่„ˆใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธๆ•ด่„ˆใจๅฟƒไธๅ…จใซๅฏพใ™ใ‚‹ๆฒป็™‚ใ‚’ใŠใ“ใชใ†ใ€‚ๆŒ็ถšๆ€งๅฟƒๅฎค้ ปๆ‹ใ‚„ๅฟƒๅฎค็ดฐๅ‹•ใชใฉไธๆ•ด่„ˆใซๅฏพใ™ใ‚‹ๆฒป็™‚ใฏใ€่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆคใˆ่พผใฟๅž‹้™ค็ดฐๅ‹•ๅ™จ๏ผˆICD๏ผ‰,ใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งๅฟƒไธๅ…จ็—‡็Šถใซๅฏพใ—ใฆใฏใ€ๆŠ—ๅฟƒไธๅ…จ่–ฌ็‰ฉ็™‚ๆณ•ใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใซๅๅฟœใ—ใชใ„ๅ ดๅˆใซใฏใ€ๅฟƒ่‡“็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ - 2200230 - + + 91 + ๅŽŸๅ› ไธๆ˜Žใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅค‰ๆ€งใ€่„‚่‚ชๆตธๆฝคใ€็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ๅณๅฎคใฎๆ‹กๅคงใ‚„ๅŽ็ธฎไธๅ…จใ€ๅณๅฎค่ตทๆบใฎๅฟƒๅฎคๆ€งไธๆ•ด่„ˆใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธๆ•ด่„ˆใจๅฟƒไธๅ…จใซๅฏพใ™ใ‚‹ๆฒป็™‚ใ‚’ใŠใ“ใชใ†ใ€‚ๆŒ็ถšๆ€งๅฟƒๅฎค้ ปๆ‹ใ‚„ๅฟƒๅฎค็ดฐๅ‹•ใชใฉไธๆ•ด่„ˆใซๅฏพใ™ใ‚‹ๆฒป็™‚ใฏใ€่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆคใˆ่พผใฟๅž‹้™ค็ดฐๅ‹•ๅ™จ๏ผˆICD๏ผ‰,ใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งๅฟƒไธๅ…จ็—‡็Šถใซๅฏพใ—ใฆใฏใ€ๆŠ—ๅฟƒไธๅ…จ่–ฌ็‰ฉ็™‚ๆณ•ใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใซๅๅฟœใ—ใชใ„ๅ ดๅˆใซใฏใ€ๅฟƒ่‡“็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ + NANDO:2200230 + Arrhythmogenic right ventricular cardiomyopathy or dysplasia + ใตใ›ใ„ใฟใ‚ƒใใ’ใ‚“ใ›ใ„ใ†ใ—ใคใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡ - + + ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡ - - 29 - ่ƒŽ็”ŸๆœŸใซใฏใ€ๅทฆๅฎคๅ†…่†œๅดๅฟƒ็ญ‹ๅฑคใฏใ€็ฒ—ใช้–“้š™ใŒ็ถฒ็›ฎ็Šถใซไนฑใ‚ŒใŸ่ตฐ่กŒใ‚’ใ—ใฆใŠใ‚Šใ€ใ“ใ‚ŒใŒ็™บ่‚ฒใจใจใ‚‚ใซๅฏ†ใจใชใฃใฆๅ†…่…”้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆ…‹ใ‚‚ๆถˆๅคฑใ—ใฆใ€่‚‰ๆŸฑใฏๆต…ใ็ดฐใ‹ใใชใฃใฆใ„ใใ€‚ๅฟƒๅฎค็‰นใซๅทฆๅฎคใฎๅฟƒ็ญ‹ใŒๅ…จๅฑคใซใ‚ใŸใฃใฆ็ทปๅฏ†ใช็Šถๆ…‹ใซๆˆ็†Ÿใ›ใšใ€้–“้š™ใŒๅคšใใชใฃใฆใ„ใ‚‹็Šถๆ…‹ใ‚’็ทปๅฏ†ๅŒ–้šœๅฎณใจใ„ใ†ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผๆณ•ใ€MRIใพใŸใฏๅทฆๅฎค้€ ๅฝฑๆณ•ใซใ‚ˆใฃใฆๅทฆๅฎคๅ†…้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆˆใจใใฎ้–“ใฎๆทฑใ„้™ฅๅ‡นใ‚’ใฟใจใ‚, ใใฎๅฟƒๅค–่†œๅดใซใ€็ทปๅฏ†ๅŒ–้šœๅฎณๅฑคใ‚ˆใ‚Š่–„ใ„็ทปๅฏ†ๅŒ–ๅฑคใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎใ“ใจใŒใ‚ใ‚Šใ€่‡จๅบŠ็š„ใซใฏๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ใจใ‚‹ใ€‚ - 2200231 - + + 29 + ่ƒŽ็”ŸๆœŸใซใฏใ€ๅทฆๅฎคๅ†…่†œๅดๅฟƒ็ญ‹ๅฑคใฏใ€็ฒ—ใช้–“้š™ใŒ็ถฒ็›ฎ็Šถใซไนฑใ‚ŒใŸ่ตฐ่กŒใ‚’ใ—ใฆใŠใ‚Šใ€ใ“ใ‚ŒใŒ็™บ่‚ฒใจใจใ‚‚ใซๅฏ†ใจใชใฃใฆๅ†…่…”้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆ…‹ใ‚‚ๆถˆๅคฑใ—ใฆใ€่‚‰ๆŸฑใฏๆต…ใ็ดฐใ‹ใใชใฃใฆใ„ใใ€‚ๅฟƒๅฎค็‰นใซๅทฆๅฎคใฎๅฟƒ็ญ‹ใŒๅ…จๅฑคใซใ‚ใŸใฃใฆ็ทปๅฏ†ใช็Šถๆ…‹ใซๆˆ็†Ÿใ›ใšใ€้–“้š™ใŒๅคšใใชใฃใฆใ„ใ‚‹็Šถๆ…‹ใ‚’็ทปๅฏ†ๅŒ–้šœๅฎณใจใ„ใ†ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผๆณ•ใ€MRIใพใŸใฏๅทฆๅฎค้€ ๅฝฑๆณ•ใซใ‚ˆใฃใฆๅทฆๅฎคๅ†…้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆˆใจใใฎ้–“ใฎๆทฑใ„้™ฅๅ‡นใ‚’ใฟใจใ‚, ใใฎๅฟƒๅค–่†œๅดใซใ€็ทปๅฏ†ๅŒ–้šœๅฎณๅฑคใ‚ˆใ‚Š่–„ใ„็ทปๅฏ†ๅŒ–ๅฑคใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎใ“ใจใŒใ‚ใ‚Šใ€่‡จๅบŠ็š„ใซใฏๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ใจใ‚‹ใ€‚ + NANDO:2200231 + Non-compaction of the ventricle + ใ—ใ‚“ใใ‚“ใกใฟใคใ‹ใ—ใ‚‡ใ†ใŒใ„ ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ - + + ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ - - 4 - ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒ็„กใๅทฆๅฎคใ€ใพใŸใฏไธกๅฟƒๅฎคใŒๆ‹กๅผตใ—ใ€ๅŽ็ธฎ่ƒฝใŒไฝŽไธ‹ใ—ใฆใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎๅค‰ๆ€งใ€็ทš็ถญๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ - 2200232 - + + 4 + ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒ็„กใๅทฆๅฎคใ€ใพใŸใฏไธกๅฟƒๅฎคใŒๆ‹กๅผตใ—ใ€ๅŽ็ธฎ่ƒฝใŒไฝŽไธ‹ใ—ใฆใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎๅค‰ๆ€งใ€็ทš็ถญๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ + NANDO:2200232 + Dilated cardiomyopathy + ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ - + ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ - - 20 - ๅทฆๅฎคใฎๆ‹กๅผต้šœๅฎณใ‚’่ชใ‚ใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ๅทฆๅฎคใฎๅŽ็ธฎ่ƒฝใฏใปใผไฟใŸใ‚Œใ€ๅทฆๅฎคๆ‹กๅคงใฏใชใ„ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ่‚ฅๅคงใ€็ทš็ถญๅŒ–ใชใฉ้ž็‰น็•ฐ็š„ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ใ„ใฃใŸใ‚“ๆœ‰็—‡็Šถใซใชใ‚‹ใจ็—…ๆ…‹ๆ‚ชๅŒ–ใฎ้€ฒ่กŒใฏ้€Ÿใใ€ๅฟƒ็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ - 2200233 - - Restricted cardiomyopathy + + 20 + ๅทฆๅฎคใฎๆ‹กๅผต้šœๅฎณใ‚’่ชใ‚ใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ๅทฆๅฎคใฎๅŽ็ธฎ่ƒฝใฏใปใผไฟใŸใ‚Œใ€ๅทฆๅฎคๆ‹กๅคงใฏใชใ„ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ่‚ฅๅคงใ€็ทš็ถญๅŒ–ใชใฉ้ž็‰น็•ฐ็š„ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ใ„ใฃใŸใ‚“ๆœ‰็—‡็Šถใซใชใ‚‹ใจ็—…ๆ…‹ๆ‚ชๅŒ–ใฎ้€ฒ่กŒใฏ้€Ÿใใ€ๅฟƒ็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ + NANDO:2200233 + + Restrictive cardiomyopathy + ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ + - + + Restricted cardiomyopathy + ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ - - 35 - ๅ…ˆๅคฉๆ€งใพใŸใฏๅพŒๅคฉๆ€งใซๅฟƒๅฎคใซใงใใŸๆ†ฉๅฎค็”จใฎ่†จ้š†ใ€‚่†จ้š†้ƒจใฎๅฃใฏๅฟƒๅ†…่†œใ€ๅฟƒ็ญ‹ใ€ๅฟƒๅค–่†œใฎ๏ผ“ๅฑคๆง‹้€ ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€็ทš็ถญๅŒ–็ต„็น”ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏๅ‰่€…ใŒๅคšใใ€ๅฟƒ็ญ‹ๆข—ๅกžๅพŒใฎๅฟƒ็ญ‹ๅฃŠๆญปใซ่ตทๅ› ใ™ใ‚‹ใจใใฏใ€ๅพŒ่€…ใŒๅคšใ„ใ€‚็ ด่ฃ‚ใฎใƒชใ‚นใ‚ฏใŒใ‚ใ‚Šใ€ๅณๅฎคๆ†ฉๅฎคใฏๆ‰‹่ก“้ฉๅฟœใŒใ‚ใ‚Œใฐๆ‰‹่ก“ใ€ๅทฆๅฎค็˜คใฏๆ‰‹่ก“ๅ›ฐ้›ฃใง้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคๅˆ‡้™คๅพŒใซ็ธซๅˆ้ƒจ็˜ข็—•ใ‹ใ‚‰ไธๆ•ด่„ˆใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคใฎ้Žๅˆ‡้™คใงๅฟƒไธๅ…จใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็”Ÿๆถฏใฎ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ไบˆๅพŒใฏไธๆ˜Žใ€‚ - 2200234 - + + 35 + ๅ…ˆๅคฉๆ€งใพใŸใฏๅพŒๅคฉๆ€งใซๅฟƒๅฎคใซใงใใŸๆ†ฉๅฎค็”จใฎ่†จ้š†ใ€‚่†จ้š†้ƒจใฎๅฃใฏๅฟƒๅ†…่†œใ€ๅฟƒ็ญ‹ใ€ๅฟƒๅค–่†œใฎ๏ผ“ๅฑคๆง‹้€ ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€็ทš็ถญๅŒ–็ต„็น”ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏๅ‰่€…ใŒๅคšใใ€ๅฟƒ็ญ‹ๆข—ๅกžๅพŒใฎๅฟƒ็ญ‹ๅฃŠๆญปใซ่ตทๅ› ใ™ใ‚‹ใจใใฏใ€ๅพŒ่€…ใŒๅคšใ„ใ€‚็ ด่ฃ‚ใฎใƒชใ‚นใ‚ฏใŒใ‚ใ‚Šใ€ๅณๅฎคๆ†ฉๅฎคใฏๆ‰‹่ก“้ฉๅฟœใŒใ‚ใ‚Œใฐๆ‰‹่ก“ใ€ๅทฆๅฎค็˜คใฏๆ‰‹่ก“ๅ›ฐ้›ฃใง้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคๅˆ‡้™คๅพŒใซ็ธซๅˆ้ƒจ็˜ข็—•ใ‹ใ‚‰ไธๆ•ด่„ˆใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคใฎ้Žๅˆ‡้™คใงๅฟƒไธๅ…จใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็”Ÿๆถฏใฎ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ไบˆๅพŒใฏไธๆ˜Žใ€‚ + NANDO:2200234 + Aneurysm of ventricle + ใ—ใ‚“ใ—ใคใ‚Šใ‚…ใ† ๅฟƒๅฎค็˜ค - + diverticulum of ventricle + + ๅฟƒๅฎค็˜ค - - 45 - ๏ผ‘ใคใ‚ใ‚‹ใ„ใฏใใ‚ŒไปฅไธŠใฎๅฟƒๅฎคใชใ‚‰ใณใซๅฟƒๆˆฟใซใ€่† ๅŽŸ็ทš็ถญใŠใ‚ˆใณๅผพๆ€ง็นŠ็ถญใฎๅข—็”ŸใซๅŸบใฅใๅฟƒๅ†…่†œใฎ่‚ฅๅŽšใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใ€‚็ขบๅฎš่จบๆ–ญใฏใ€็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใงใ€ใณใพใ‚“ๆ€งใซๅฟƒๅ†…่†œ่‚ฅๅŽšใ‚’่ชใ‚ใ‚‹ใ€‚้ซ˜ๅบฆใฎๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆธ›ๅฐ‘ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ - 2200235 - + + 45 + ๏ผ‘ใคใ‚ใ‚‹ใ„ใฏใใ‚ŒไปฅไธŠใฎๅฟƒๅฎคใชใ‚‰ใณใซๅฟƒๆˆฟใซใ€่† ๅŽŸ็ทš็ถญใŠใ‚ˆใณๅผพๆ€ง็นŠ็ถญใฎๅข—็”ŸใซๅŸบใฅใๅฟƒๅ†…่†œใฎ่‚ฅๅŽšใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใ€‚็ขบๅฎš่จบๆ–ญใฏใ€็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใงใ€ใณใพใ‚“ๆ€งใซๅฟƒๅ†…่†œ่‚ฅๅŽšใ‚’่ชใ‚ใ‚‹ใ€‚้ซ˜ๅบฆใฎๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆธ›ๅฐ‘ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ + NANDO:2200235 + Endocardial fibroelastosis + ใ—ใ‚“ใชใ„ใพใใ›ใ‚“ใ„ใ ใ‚“ใ›ใ„ใ—ใ‚‡ใ† ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡ - + ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡ - - 36 - ๅฟƒๆˆฟใ€ๅฟƒๅฎคใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ€‚่‰ฏๆ€งใŒๅคšใใ€ๆ‚ชๆ€งใฏๅฐ‘ใชใ„ใŒ๏ผˆ10๏ผ…๏ผ‰ใ€่‰ฏๆ€งใงใ‚‚ๅฟƒๆฉŸ่ƒฝใซๆ‚ชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆจช็ด‹็ญ‹็จฎใ€็ทš็ถญ่…ซใ€็ฒ˜ๆถฒ่…ซใ€ๅฅ‡ๅฝข่…ซใ€่„‚่‚ช่…ซใ€่‚‰่…ซใชใฉใŒใ‚ใ‚‹ใ€‚ๆจช็ด‹็ญ‹็จฎใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ๅณๅฎคใ€ๅทฆๅฎคใซๅคš็™บๆ€งใฎใ“ใจใŒๅคšใ„ใ€‚็ทš็ถญ่…ซใฏใ€ๅณๅฎคใ€ๅทฆๅฎคใซ็™บ็”Ÿใ—ใ€็ช็„ถๆญปใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚็ฒ˜ๆถฒ่…ซใฏๅฟƒๆˆฟใซ็™บ็”Ÿใ—ใ€็Ÿญ่ŒŽใ‚’ๆœ‰ใ—ใฆๅฟƒๆˆฟๅ†…ใซ็ชๅ‡บใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆ‘˜ๅ‡บๅฏ่ƒฝใช้ƒจไฝใ€ๅคงใใ•ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใฆใ‚‚ๆ‰‹่ก“ใŒใงใใชใ„ไพ‹ใงใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 2200236 - + + 36 + ๅฟƒๆˆฟใ€ๅฟƒๅฎคใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ€‚่‰ฏๆ€งใŒๅคšใใ€ๆ‚ชๆ€งใฏๅฐ‘ใชใ„ใŒ๏ผˆ10๏ผ…๏ผ‰ใ€่‰ฏๆ€งใงใ‚‚ๅฟƒๆฉŸ่ƒฝใซๆ‚ชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆจช็ด‹็ญ‹็จฎใ€็ทš็ถญ่…ซใ€็ฒ˜ๆถฒ่…ซใ€ๅฅ‡ๅฝข่…ซใ€่„‚่‚ช่…ซใ€่‚‰่…ซใชใฉใŒใ‚ใ‚‹ใ€‚ๆจช็ด‹็ญ‹็จฎใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ๅณๅฎคใ€ๅทฆๅฎคใซๅคš็™บๆ€งใฎใ“ใจใŒๅคšใ„ใ€‚็ทš็ถญ่…ซใฏใ€ๅณๅฎคใ€ๅทฆๅฎคใซ็™บ็”Ÿใ—ใ€็ช็„ถๆญปใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚็ฒ˜ๆถฒ่…ซใฏๅฟƒๆˆฟใซ็™บ็”Ÿใ—ใ€็Ÿญ่ŒŽใ‚’ๆœ‰ใ—ใฆๅฟƒๆˆฟๅ†…ใซ็ชๅ‡บใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆ‘˜ๅ‡บๅฏ่ƒฝใช้ƒจไฝใ€ๅคงใใ•ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใฆใ‚‚ๆ‰‹่ก“ใŒใงใใชใ„ไพ‹ใงใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:2200236 + Cardiac tumor + ใ—ใ‚“ใžใ†ใ—ใ‚…ใ‚ˆใ† ๅฟƒ่‡“่…ซ็˜ - - + ๅฟƒ่‡“่…ซ็˜ - - 92 - ๆ•ฐใƒถๆœˆไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅฟƒ็ญ‹็‚Žใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’่ชใ‚ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ๅž‹ใจใ€ๆ€ฅๆ€งๅฟƒ็ญ‹็‚ŽใŒ้ทๅปถใ™ใ‚‹ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200237 - + + 92 + ๆ•ฐใƒถๆœˆไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅฟƒ็ญ‹็‚Žใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’่ชใ‚ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ๅž‹ใจใ€ๆ€ฅๆ€งๅฟƒ็ญ‹็‚ŽใŒ้ทๅปถใ™ใ‚‹ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200237 + Chronic myocarditis + ใพใ‚“ใ›ใ„ใ—ใ‚“ใใ‚“ใˆใ‚“ ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž - + + ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž - - 93 - ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ‚†ใฃใใ‚Šใจใ—ใŸๅฟƒๅšขๆถฒใฎๅข—ๅคง๏ผˆๆตธๅ‡บๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚„ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒใ‚ฟใƒณใƒใƒŠใƒผใƒ‡ใจใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆ…ขๆ€งๅฟƒ่†œ็‚Žใฎไธ€็จฎใงใ‚ใ‚‹ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Žใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200238 - + + 93 + ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ‚†ใฃใใ‚Šใจใ—ใŸๅฟƒๅšขๆถฒใฎๅข—ๅคง๏ผˆๆตธๅ‡บๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚„ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒใ‚ฟใƒณใƒใƒŠใƒผใƒ‡ใจใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆ…ขๆ€งๅฟƒ่†œ็‚Žใฎไธ€็จฎใงใ‚ใ‚‹ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Žใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200238 + Chronic pericarditis + ใพใ‚“ใ›ใ„ใ—ใ‚“ใพใใˆใ‚“ ๆ…ขๆ€งๅฟƒ่†œ็‚Ž - + + ๆ…ขๆ€งๅฟƒ่†œ็‚Ž - - 25 - ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆœ‰็—‡็Šถใฎๅ ดๅˆใฏใ€ๅค–็ง‘็š„ใซๅฟƒ่†œๅˆ‡้™คใ‚’ใŠใ“ใชใ†ใ€‚ๆœฌ็—‡ใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200239 - + + 25 + ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆœ‰็—‡็Šถใฎๅ ดๅˆใฏใ€ๅค–็ง‘็š„ใซๅฟƒ่†œๅˆ‡้™คใ‚’ใŠใ“ใชใ†ใ€‚ๆœฌ็—‡ใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200239 + Constrictive pericarditis + ใ—ใ‚…ใ†ใ—ใ‚…ใใ›ใ„ใ—ใ‚“ใพใใˆใ‚“ ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž - + ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž - - 53 - ๅ…ˆๅคฉ็š„ใซๅฟƒ่†œใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€้ƒจๅˆ†ๆฌ ๆใงใฏใ€ๅฟƒ่€ณใŒๅตŒ้ “ใ—ใŸใ‚Šใ€ๅ† ๅ‹•่„ˆใŒๅœง่ฟซใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใจ่ƒธ็—›ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅตŒ้ “ใฎๅฑ้™บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใ™ใ‚‹ใ€‚ - 2200240 - + + 53 + ๅ…ˆๅคฉ็š„ใซๅฟƒ่†œใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€้ƒจๅˆ†ๆฌ ๆใงใฏใ€ๅฟƒ่€ณใŒๅตŒ้ “ใ—ใŸใ‚Šใ€ๅ† ๅ‹•่„ˆใŒๅœง่ฟซใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใจ่ƒธ็—›ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅตŒ้ “ใฎๅฑ้™บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใ™ใ‚‹ใ€‚ + NANDO:2200240 + Congenital defect of the pericardium + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚“ใพใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡ - + + + ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡ - - 76 - ๆœฌ็—‡ใฏใ€็”Ÿๆฅๅฅๅบทใชไนณๅ…ใซใ€ๆ•ฐๆ—ฅใฎๆ„Ÿๅ†’ๆง˜ใฎๅ‰้ง†็—‡็Šถใซๅผ•ใ็ถšใ„ใฆ็ช็„ถใซๅƒงๅธฝๅผใฎ่…ฑ็ดขใŒๆ–ญ่ฃ‚ใ—ใ€็™บ็—‡ใจๅŒๆ™‚ใซๆ€ฅ้€Ÿใซๅ‘ผๅธๅพช็’ฐไธๅ…จใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ4-6ใƒถๆœˆใซไนณๅ…ใซๅคšใใ€ๆ˜ฅใ‹ใ‚‰ๅคใซใ‹ใ‘ใฆๅฅฝ็™บใ—ใ€ๅ ฑๅ‘Šไพ‹ใฎใปใจใ‚“ใฉใŒๆ—ฅๆœฌไบบไนณๅ…ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผใซใ‚ˆใ‚Šๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚Œใ€ๅฐ‚้–€ๆ–ฝ่จญใง้ฉๅˆ‡ใชๅฟƒ่‡“ๅค–็ง‘ๆฒป็™‚ใŒใชใ•ใ‚Œใชใ„ใจใ€ๆ€ฅๆ€งๅทฆๅฟƒไธๅ…จใซใ‚ˆใ‚Š็ŸญๆœŸ้–“ใซๆญปใซ่‡ณใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใพใŸๅค–็ง‘ๆ‰‹่ก“ใซใ‚ˆใ‚Šๆ•‘ๅ‘ฝใ—ๅพ—ใŸๅ ดๅˆใ‚‚ใ€ๆฉŸไผšๅผ็ฝฎๆ›่ก“ใ‚’ไฝ™ๅ„€ใชใใ•ใ‚Œใ‚‹ใ€้บๆฎ‹ใ™ใ‚‹ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใซใ‚ˆใ‚Šๅฟƒไธๅ…จใ‚„ไธๆ•ด่„ˆใ‚’็ถš็™บใ™ใ‚‹ใ€่ก“ๅ‰ใฎใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใชใฉใ€ๅญใฉใ‚‚ใŸใกใฎ็”Ÿๆถฏใซใ‚ใŸใ‚‹้บๆฎ‹็—‡ใ‚„็ถš็™บ็—‡ใ‚’ใใŸใ™ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ›ฝๅ†…ๅค–ใฎๅฐๅ…็ง‘ใฎๆ•™็ง‘ๆ›ธใซๆœชใ ่จ˜่ผ‰ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšใใฎๅฐๅ…็ง‘ๅŒปใฏๆœฌ็–พๆ‚ฃใฎๅญ˜ๅœจใ‚’ๅๅˆ†ใซ่ช่ญ˜ใ—ใฆใ„ใชใ„ใŸใ‚ใ€ๆ€ฅๆ€งๆœŸใ ใ‘ใงใชใ้ ้š”ๆœŸใฎ็—…ๆ…‹ใฎๅฎŸๆ…‹ใ‚’ๆญฃ็ขบใซๆŠŠๆกใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅบƒใๆƒ…ๅ ฑใ‚’ๅฐๅ…็ง‘ๅŒปใ‚„ๅ†…็ง‘ๅŒปใซๆไพ›ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 2200241 - + + 76 + ๆœฌ็—‡ใฏใ€็”Ÿๆฅๅฅๅบทใชไนณๅ…ใซใ€ๆ•ฐๆ—ฅใฎๆ„Ÿๅ†’ๆง˜ใฎๅ‰้ง†็—‡็Šถใซๅผ•ใ็ถšใ„ใฆ็ช็„ถใซๅƒงๅธฝๅผใฎ่…ฑ็ดขใŒๆ–ญ่ฃ‚ใ—ใ€็™บ็—‡ใจๅŒๆ™‚ใซๆ€ฅ้€Ÿใซๅ‘ผๅธๅพช็’ฐไธๅ…จใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ4-6ใƒถๆœˆใซไนณๅ…ใซๅคšใใ€ๆ˜ฅใ‹ใ‚‰ๅคใซใ‹ใ‘ใฆๅฅฝ็™บใ—ใ€ๅ ฑๅ‘Šไพ‹ใฎใปใจใ‚“ใฉใŒๆ—ฅๆœฌไบบไนณๅ…ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผใซใ‚ˆใ‚Šๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚Œใ€ๅฐ‚้–€ๆ–ฝ่จญใง้ฉๅˆ‡ใชๅฟƒ่‡“ๅค–็ง‘ๆฒป็™‚ใŒใชใ•ใ‚Œใชใ„ใจใ€ๆ€ฅๆ€งๅทฆๅฟƒไธๅ…จใซใ‚ˆใ‚Š็ŸญๆœŸ้–“ใซๆญปใซ่‡ณใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใพใŸๅค–็ง‘ๆ‰‹่ก“ใซใ‚ˆใ‚Šๆ•‘ๅ‘ฝใ—ๅพ—ใŸๅ ดๅˆใ‚‚ใ€ๆฉŸไผšๅผ็ฝฎๆ›่ก“ใ‚’ไฝ™ๅ„€ใชใใ•ใ‚Œใ‚‹ใ€้บๆฎ‹ใ™ใ‚‹ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใซใ‚ˆใ‚Šๅฟƒไธๅ…จใ‚„ไธๆ•ด่„ˆใ‚’็ถš็™บใ™ใ‚‹ใ€่ก“ๅ‰ใฎใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใชใฉใ€ๅญใฉใ‚‚ใŸใกใฎ็”Ÿๆถฏใซใ‚ใŸใ‚‹้บๆฎ‹็—‡ใ‚„็ถš็™บ็—‡ใ‚’ใใŸใ™ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ›ฝๅ†…ๅค–ใฎๅฐๅ…็ง‘ใฎๆ•™็ง‘ๆ›ธใซๆœชใ ่จ˜่ผ‰ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšใใฎๅฐๅ…็ง‘ๅŒปใฏๆœฌ็–พๆ‚ฃใฎๅญ˜ๅœจใ‚’ๅๅˆ†ใซ่ช่ญ˜ใ—ใฆใ„ใชใ„ใŸใ‚ใ€ๆ€ฅๆ€งๆœŸใ ใ‘ใงใชใ้ ้š”ๆœŸใฎ็—…ๆ…‹ใฎๅฎŸๆ…‹ใ‚’ๆญฃ็ขบใซๆŠŠๆกใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅบƒใๆƒ…ๅ ฑใ‚’ๅฐๅ…็ง‘ๅŒปใ‚„ๅ†…็ง‘ๅŒปใซๆไพ›ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:2200241 + Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants + ใซใ‚…ใ†ใ˜ใจใใฏใคใ›ใ„ใใ†ใผใ†ในใ‚“ใ‘ใ‚“ใ•ใใ ใ‚“ใ‚Œใค ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚ - + ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚ - - 10 - ๆญฃๅธธใชใ‚‰ใ€ๅทฆๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚็”ŸๅพŒใฏๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใซใชใ‚‹ใŸใ‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฏใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€่กŒใ‚’ไป‹ใ—ใฆใ—ใ‹ๆฝ…ๆตใ•ใ‚Œใชใใชใ‚‹ใ€‚ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฎ่™š่ก€ใฎใŸใ‚ใซใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚„ใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡้กžไผผใฎๅทฆๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใชใฉใŒ่ตทใ“ใ‚‹ใ€‚ๆฒป็™‚ใ•ใ‚Œใชใ‘ใ‚Œใฐไนณๅนผๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ๅž‹ใจใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€็ฎกใŒ็™บ้”ใ—ใฆๅฟƒ็ญ‹่™š่ก€ใŒ็›ฎ็ซ‹ใŸใชใ„ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ใฉใกใ‚‰ใฎๅž‹ใซใ—ใฆใ‚‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใฉๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ๅทฆๅฎคๆฉŸ่ƒฝไธๅ…จใชใฉใ‚ใ‚Œใฐใ€ใใ‚Œใซๅฏพใ™ใ‚‹ๅ†…็ง‘็š„ๆฒป็™‚๏ผˆๅˆฉๅฐฟ่–ฌใชใฉ๏ผ‰ใ‚’่กŒใ†ใ€‚ - 2200242 - + + 10 + ๆญฃๅธธใชใ‚‰ใ€ๅทฆๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚็”ŸๅพŒใฏๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใซใชใ‚‹ใŸใ‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฏใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€่กŒใ‚’ไป‹ใ—ใฆใ—ใ‹ๆฝ…ๆตใ•ใ‚Œใชใใชใ‚‹ใ€‚ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฎ่™š่ก€ใฎใŸใ‚ใซใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚„ใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡้กžไผผใฎๅทฆๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใชใฉใŒ่ตทใ“ใ‚‹ใ€‚ๆฒป็™‚ใ•ใ‚Œใชใ‘ใ‚Œใฐไนณๅนผๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ๅž‹ใจใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€็ฎกใŒ็™บ้”ใ—ใฆๅฟƒ็ญ‹่™š่ก€ใŒ็›ฎ็ซ‹ใŸใชใ„ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ใฉใกใ‚‰ใฎๅž‹ใซใ—ใฆใ‚‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใฉๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ๅทฆๅฎคๆฉŸ่ƒฝไธๅ…จใชใฉใ‚ใ‚Œใฐใ€ใใ‚Œใซๅฏพใ™ใ‚‹ๅ†…็ง‘็š„ๆฒป็™‚๏ผˆๅˆฉๅฐฟ่–ฌใชใฉ๏ผ‰ใ‚’่กŒใ†ใ€‚ + NANDO:2200242 + Abnormal origin of left coronary artery from pulmonary artery + ใฒใ ใ‚Šใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ† ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ - + + ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ - - 11 - ๆญฃๅธธใชใ‚‰ใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใฏ่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใŸใ‚ใ€ๅณๅ† ๅ‹•่„ˆ้‚„ๆตๅŸŸใฎ่™š่ก€ใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใชใ‚‰็ตŒ้Ž่ฆณๅฏŸใ—ใฆใ‚‚ใ„ใ„ใจใฎๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใŒใ€็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€็„ก็—‡็Šถใงใ‚‚ๆ‰‹่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ๅณๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใ„ใ—็ต็ดฎ่ก“ใ‚’่กŒใ†ใ€‚ - 2200243 - + + 11 + ๆญฃๅธธใชใ‚‰ใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใฏ่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใŸใ‚ใ€ๅณๅ† ๅ‹•่„ˆ้‚„ๆตๅŸŸใฎ่™š่ก€ใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใชใ‚‰็ตŒ้Ž่ฆณๅฏŸใ—ใฆใ‚‚ใ„ใ„ใจใฎๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใŒใ€็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€็„ก็—‡็Šถใงใ‚‚ๆ‰‹่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ๅณๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใ„ใ—็ต็ดฎ่ก“ใ‚’่กŒใ†ใ€‚ + NANDO:2200243 + Abnormal origin of right coronary artery from pulmonary artery + ใฟใŽใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ† ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ - + ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ - - 12 - ๅทฆๅ† ๅฐ–ใ‹ใ‚‰ๅทฆๅ† ๅ‹•่„ˆใŒใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใŒๅ‡บใ‚‹ใฎใŒๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใใ‚Œไปฅๅค–ใฎๅฝขๆ…‹ใ‚’ๅ…จใฆๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใจใ„ใ†ใ€‚ๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใฏๅˆฅ้ …ใงๆ‰ฑใ†ใ€‚ๅ˜ไธ€ๅ† ๅ‹•่„ˆใ€ๅทฆๅ† ๅ‹•่„ˆๆดž๏ผˆๅทฆๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅณๅ† ๅ‹•่„ˆ่ตทๅง‹ใ€ๅณๅ† ๅ‹•่„ˆๆดž๏ผˆๅณๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅทฆๅ† ๅ‹•่„ˆ่ตทๅง‹ใŒใ‚ใ‚‹ใ€‚่ตทๅง‹็•ฐๅธธใฎๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใจไธป่‚บๅ‹•่„ˆใจใฎ้–“ใ‚’่ตฐ่กŒใ™ใ‚‹ใ“ใจใงใ€ๅฟƒ็ญ‹่™š่ก€ใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚’่ตทใ“ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200244 - + + 12 + ๅทฆๅ† ๅฐ–ใ‹ใ‚‰ๅทฆๅ† ๅ‹•่„ˆใŒใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใŒๅ‡บใ‚‹ใฎใŒๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใใ‚Œไปฅๅค–ใฎๅฝขๆ…‹ใ‚’ๅ…จใฆๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใจใ„ใ†ใ€‚ๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใฏๅˆฅ้ …ใงๆ‰ฑใ†ใ€‚ๅ˜ไธ€ๅ† ๅ‹•่„ˆใ€ๅทฆๅ† ๅ‹•่„ˆๆดž๏ผˆๅทฆๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅณๅ† ๅ‹•่„ˆ่ตทๅง‹ใ€ๅณๅ† ๅ‹•่„ˆๆดž๏ผˆๅณๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅทฆๅ† ๅ‹•่„ˆ่ตทๅง‹ใŒใ‚ใ‚‹ใ€‚่ตทๅง‹็•ฐๅธธใฎๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใจไธป่‚บๅ‹•่„ˆใจใฎ้–“ใ‚’่ตฐ่กŒใ™ใ‚‹ใ“ใจใงใ€ๅฟƒ็ญ‹่™š่ก€ใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚’่ตทใ“ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200244 + + 29ใŠใ‚ˆใณ30ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ—ใ„ใ˜ใ‚‡ใ† 29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ Other anomalous origin of coronary artery - + 29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ - - 5 - ๅทๅดŽ็—…ใซๅˆไฝตใ™ใ‚‹ๅ† ๅ‹•่„ˆ็˜คใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใฎ่จบๆ–ญใฏใ€ๆ—ฅๆœฌๅทๅดŽ็—…ๅญฆไผšใฎ่จบๆ–ญใฎๆ‰‹ๅผ•ใ๏ผˆhttp://www.jskd.jp/info/tebiki.html๏ผ‰ใซ่จ˜่ผ‰ใŒใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใซๅˆไฝตใ—ใŸๅ† ๅ‹•่„ˆ็˜คใซใคใ„ใฆใฏใ€ๆ—ฅๆœฌๅพช็’ฐๅ™จๅญฆไผšใซใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผˆๅทๅดŽ็—…ๅฟƒ่‡“่ก€็ฎกๅพŒ้บ็—‡ใฎ่จบๆ–ญๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผ‰ใŒใ‚ใ‚‹ ๏ผˆhttp://www.j-circ.or.jp/guideline/pdf/JCS2013_ogawas_h.pdf๏ผ‰ใ€‚ๅทๅดŽ็—…ใฏๅŽŸๅ› ไธๆ˜Žใฎๅ…จ่บซๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‰นใซๅ† ๅ‹•่„ˆใฎ็‚Ž็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…็™บ็—‡ๅพŒ6ใ€œ8ๆ—ฅ้ ƒใ€ๅ‹•่„ˆใฎๅ†…่†œใŠใ‚ˆใณๅค–่†œใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใŒใŠใ“ใ‚‹ใ€‚10็—…ๆ—ฅ้ ƒใ€ๅ‹•่„ˆๅฃๅ…จๅฑคใฎ็‚Ž็—‡ใจใชใ‚Šใ€ๅ‹•่„ˆใฎๆ‹กๅผตใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚ŒใŒๆ‚ชๅŒ–ใ™ใ‚‹ใจ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚็˜คๅ†…ใฎ่ก€ๆ “ใฎไบˆ้˜ฒใฎ็›ฎ็š„ใงใ€ๆŠ—่ก€ๆ “ใ€ๆŠ—ๅ‡ๅ›บ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚็˜คใฎ็‹ญ็ช„ใซๅฏพใ—ใฆใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚„ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ - 2200245 - - Coronary aneurysms complicated with kawasaki disease + + 5 + ๅทๅดŽ็—…ใซๅˆไฝตใ™ใ‚‹ๅ† ๅ‹•่„ˆ็˜คใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใฎ่จบๆ–ญใฏใ€ๆ—ฅๆœฌๅทๅดŽ็—…ๅญฆไผšใฎ่จบๆ–ญใฎๆ‰‹ๅผ•ใ๏ผˆhttp://www.jskd.jp/info/tebiki.html๏ผ‰ใซ่จ˜่ผ‰ใŒใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใซๅˆไฝตใ—ใŸๅ† ๅ‹•่„ˆ็˜คใซใคใ„ใฆใฏใ€ๆ—ฅๆœฌๅพช็’ฐๅ™จๅญฆไผšใซใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผˆๅทๅดŽ็—…ๅฟƒ่‡“่ก€็ฎกๅพŒ้บ็—‡ใฎ่จบๆ–ญๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผ‰ใŒใ‚ใ‚‹ ๏ผˆhttp://www.j-circ.or.jp/guideline/pdf/JCS2013_ogawas_h.pdf๏ผ‰ใ€‚ๅทๅดŽ็—…ใฏๅŽŸๅ› ไธๆ˜Žใฎๅ…จ่บซๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‰นใซๅ† ๅ‹•่„ˆใฎ็‚Ž็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…็™บ็—‡ๅพŒ6ใ€œ8ๆ—ฅ้ ƒใ€ๅ‹•่„ˆใฎๅ†…่†œใŠใ‚ˆใณๅค–่†œใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใŒใŠใ“ใ‚‹ใ€‚10็—…ๆ—ฅ้ ƒใ€ๅ‹•่„ˆๅฃๅ…จๅฑคใฎ็‚Ž็—‡ใจใชใ‚Šใ€ๅ‹•่„ˆใฎๆ‹กๅผตใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚ŒใŒๆ‚ชๅŒ–ใ™ใ‚‹ใจ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚็˜คๅ†…ใฎ่ก€ๆ “ใฎไบˆ้˜ฒใฎ็›ฎ็š„ใงใ€ๆŠ—่ก€ๆ “ใ€ๆŠ—ๅ‡ๅ›บ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚็˜คใฎ็‹ญ็ช„ใซๅฏพใ—ใฆใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚„ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ + NANDO:2200245 + + Coronary aneurysms complicated with Kawasaki disease + ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค - + ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค - - 6 - ๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใธใฎ้–‹ๅฃ้ƒจใง้–‰้Ž–ใ‚ใ‚‹ใ„ใฏ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ๅทฆๅ† ๅ‹•่„ˆใซๅคšใใ€ๅ˜็‹ฌใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใจๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ‚„ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใซๅˆไฝตใ—ใฆ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใŒใคใๆฌก็ฌฌใ€้–‰้Ž–ใฎๅฝขๆ…‹ใซๅฟœใ˜ใฆใ€่†œๆง˜็‰ฉใฎๅˆ‡้™คใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใชใฉใ‚’่กŒใ†ใ€‚ - 2200246 - + + 6 + ๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใธใฎ้–‹ๅฃ้ƒจใง้–‰้Ž–ใ‚ใ‚‹ใ„ใฏ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ๅทฆๅ† ๅ‹•่„ˆใซๅคšใใ€ๅ˜็‹ฌใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใจๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ‚„ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใซๅˆไฝตใ—ใฆ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใŒใคใๆฌก็ฌฌใ€้–‰้Ž–ใฎๅฝขๆ…‹ใซๅฟœใ˜ใฆใ€่†œๆง˜็‰ฉใฎๅˆ‡้™คใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใชใฉใ‚’่กŒใ†ใ€‚ + NANDO:2200246 + Stenosis or atresia of coronary artery + ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡ - + + ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡ - - 15 - ่ƒธ็—›ๆ™‚ใซๅฟƒ้›ปๅ›ณใงSTไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใŸใ ใ—ใ€็„ก็—‡ๅ€™ๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใŒ้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใง่จผๆ˜Žใ•ใ‚Œใ€ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่™š่ก€ใŒ่จผๆ˜Žใ•ใ‚ŒใŸๅ ดๅˆใ‚’ใ„ใ†ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ - 2200247 - + + 15 + ่ƒธ็—›ๆ™‚ใซๅฟƒ้›ปๅ›ณใงSTไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใŸใ ใ—ใ€็„ก็—‡ๅ€™ๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใŒ้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใง่จผๆ˜Žใ•ใ‚Œใ€ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่™š่ก€ใŒ่จผๆ˜Žใ•ใ‚ŒใŸๅ ดๅˆใ‚’ใ„ใ†ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ + NANDO:2200247 + Angina pectoris + ใใ‚‡ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ็‹ญๅฟƒ็—‡ - + ็‹ญๅฟƒ็—‡ - - 16 - ๅฟƒ็ญ‹ๆข—ๅกžใฏใ€ๆ€ฅๆฟ€ใชๅ† ๅ‹•่„ˆ่ก€ๆตใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šๅฟƒ็ญ‹ๅฃŠๆญปใซใ„ใŸใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจไธๅฟซๆ„Ÿใ€ใ‚ทใƒงใƒƒใ‚ฏใชใฉ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใจใ€็„ก็—‡ๅ€™ๆ€งใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€ๅฟƒ้›ปๅ›ณใงใฎ็ตŒๆ™‚็š„ๅค‰ๅŒ–ใŒใ‚ใ‚‹ใ€‚้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใงๅ† ๅ‹•่„ˆ็‹ญ็ช„ใ€้–‰ๅกžใฎๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่ก€ๆตใŒไฝŽไธ‹ใ—ๅ†็ŒๆตใŒ็„กใ„ใ€‚็™บ็—‡ๆ—ฉๆœŸใชใ‚‰ใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ๆบถ่งฃ็™‚ๆณ•ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅ† ๅ‹•่„ˆๆ‹กๅผตใ‚’ใŠใ“ใชใ†ใ€‚ใใฎๅพŒใฎๆ…ขๆ€งๆœŸใซใฏใ€็—…ๆ…‹ใจ้ฉๅฟœใซๅฟœใ˜ใฆใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ€ๅฟƒไธๅ…จๆฒป็™‚ใชใฉใ‚’่กŒใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200248 - + + 16 + ๅฟƒ็ญ‹ๆข—ๅกžใฏใ€ๆ€ฅๆฟ€ใชๅ† ๅ‹•่„ˆ่ก€ๆตใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šๅฟƒ็ญ‹ๅฃŠๆญปใซใ„ใŸใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจไธๅฟซๆ„Ÿใ€ใ‚ทใƒงใƒƒใ‚ฏใชใฉ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใจใ€็„ก็—‡ๅ€™ๆ€งใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€ๅฟƒ้›ปๅ›ณใงใฎ็ตŒๆ™‚็š„ๅค‰ๅŒ–ใŒใ‚ใ‚‹ใ€‚้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใงๅ† ๅ‹•่„ˆ็‹ญ็ช„ใ€้–‰ๅกžใฎๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่ก€ๆตใŒไฝŽไธ‹ใ—ๅ†็ŒๆตใŒ็„กใ„ใ€‚็™บ็—‡ๆ—ฉๆœŸใชใ‚‰ใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ๆบถ่งฃ็™‚ๆณ•ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅ† ๅ‹•่„ˆๆ‹กๅผตใ‚’ใŠใ“ใชใ†ใ€‚ใใฎๅพŒใฎๆ…ขๆ€งๆœŸใซใฏใ€็—…ๆ…‹ใจ้ฉๅฟœใซๅฟœใ˜ใฆใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ€ๅฟƒไธๅ…จๆฒป็™‚ใชใฉใ‚’่กŒใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200248 + Myocardial infarction + ใ—ใ‚“ใใ‚“ใ“ใ†ใใ ๅฟƒ็ญ‹ๆข—ๅกž - + ๅฟƒ็ญ‹ๆข—ๅกž - - 22 - ๅทฆๅฟƒๆˆฟใ€ๅทฆๅฟƒๅฎคใ€ไธŠ่กŒๅคงๅ‹•่„ˆใ€ๅคงๅ‹•่„ˆๅผ“ใซใ„ใŸใ‚‹ๅทฆๅฟƒ็ณปใฎไฝŽๅฝขๆˆใจใ€ๅƒงๅธฝๅผใ€ๅคงๅ‹•่„ˆๅผใฎไฝŽๅฝขๆˆใ€็‹ญ็ช„ใ€ใชใ„ใ—้–‰้Ž–ใ‚’ใจใ‚‚ใชใ†็–พๆ‚ฃใ€‚็”ŸๅพŒใฏใ€่ก€่กŒๅ‹•ๆ…‹ไธŠใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใจๅฟƒๆˆฟ้–“ไบค้€šใŒ็”Ÿๅ‘ฝ็ถญๆŒใซไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚็”ŸๅพŒใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€้ซ˜ๅบฆๅฟƒไธๅ…จใ‚’ใจใ‚‚ใชใ†ใ€‚ๆ‰‹่ก“ใซใ‚ˆใฃใฆใ‚‚ๅณๅฎคใ‚’ไฝ“ๅฟƒๅฎคใจใ—ใŸFontanๆ‰‹่ก“ใงใ—ใ‹ไฟฎๅพฉใงใใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ปๅบฆใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ1.4๏ฝž3.8๏ผ…ใงใ€็ฉๆฅต็š„ๆฒป็™‚ใ‚’ใ—ใชใ„ๅ ดๅˆใ€ๅคงๅŠใฏ1ใ‹ๆœˆไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅ† ่ก€ๆตใ‚’ๅซใ‚ใ€ไฝ“่ก€ๆตใŒๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅ‹•่„ˆ็ฎกใฎ้–‰้Ž–ใฏใ—ใฐใ—ใฐ่‡ดๅ‘ฝ็š„ใจใชใ‚‹ใ€‚ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใซใ‚ˆใ‚Šductal shock ใ‚’ไบˆ้˜ฒใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ใ“ใ‚Œใซใ‚ˆใ‚Šๅง‘ๆฏๆ‰‹่ก“ใพใงๆ‚ฃๅ…ใ‚’่‰ฏๅฅฝใช็Šถๆ…‹ใซไฟใฆใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ใฏๆ–ฐ็”Ÿๅ…ๆœŸใซNorwoodๆ‰‹่ก“๏ผˆ+Blalock-Taussig็Ÿญ็ตก่ก“ใพใŸใฏๅณๅฎคโ€”่‚บๅ‹•่„ˆ็Ÿญ็ตก่ก“๏ผ‰ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใง็ถญๆŒใ€ใพใŸใฏไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎกใซใ‚นใƒ†ใƒณใƒˆ็•™็ฝฎใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซไธกๆ–นๅ‘ๆ€งGlennๆ‰‹่ก“ใ€ๅนผๅ…ๆœŸใซใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 2200249 - + + 22 + ๅทฆๅฟƒๆˆฟใ€ๅทฆๅฟƒๅฎคใ€ไธŠ่กŒๅคงๅ‹•่„ˆใ€ๅคงๅ‹•่„ˆๅผ“ใซใ„ใŸใ‚‹ๅทฆๅฟƒ็ณปใฎไฝŽๅฝขๆˆใจใ€ๅƒงๅธฝๅผใ€ๅคงๅ‹•่„ˆๅผใฎไฝŽๅฝขๆˆใ€็‹ญ็ช„ใ€ใชใ„ใ—้–‰้Ž–ใ‚’ใจใ‚‚ใชใ†็–พๆ‚ฃใ€‚็”ŸๅพŒใฏใ€่ก€่กŒๅ‹•ๆ…‹ไธŠใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใจๅฟƒๆˆฟ้–“ไบค้€šใŒ็”Ÿๅ‘ฝ็ถญๆŒใซไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚็”ŸๅพŒใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€้ซ˜ๅบฆๅฟƒไธๅ…จใ‚’ใจใ‚‚ใชใ†ใ€‚ๆ‰‹่ก“ใซใ‚ˆใฃใฆใ‚‚ๅณๅฎคใ‚’ไฝ“ๅฟƒๅฎคใจใ—ใŸFontanๆ‰‹่ก“ใงใ—ใ‹ไฟฎๅพฉใงใใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ปๅบฆใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ1.4๏ฝž3.8๏ผ…ใงใ€็ฉๆฅต็š„ๆฒป็™‚ใ‚’ใ—ใชใ„ๅ ดๅˆใ€ๅคงๅŠใฏ1ใ‹ๆœˆไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅ† ่ก€ๆตใ‚’ๅซใ‚ใ€ไฝ“่ก€ๆตใŒๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅ‹•่„ˆ็ฎกใฎ้–‰้Ž–ใฏใ—ใฐใ—ใฐ่‡ดๅ‘ฝ็š„ใจใชใ‚‹ใ€‚ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใซใ‚ˆใ‚Šductal shock ใ‚’ไบˆ้˜ฒใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ใ“ใ‚Œใซใ‚ˆใ‚Šๅง‘ๆฏๆ‰‹่ก“ใพใงๆ‚ฃๅ…ใ‚’่‰ฏๅฅฝใช็Šถๆ…‹ใซไฟใฆใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ใฏๆ–ฐ็”Ÿๅ…ๆœŸใซNorwoodๆ‰‹่ก“๏ผˆ+Blalock-Taussig็Ÿญ็ตก่ก“ใพใŸใฏๅณๅฎคโ€”่‚บๅ‹•่„ˆ็Ÿญ็ตก่ก“๏ผ‰ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใง็ถญๆŒใ€ใพใŸใฏไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎกใซใ‚นใƒ†ใƒณใƒˆ็•™็ฝฎใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซไธกๆ–นๅ‘ๆ€งGlennๆ‰‹่ก“ใ€ๅนผๅ…ๆœŸใซใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:2200249 + Hypoplastic left heart syndrome + ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค - + - + ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค - - 68 - ๅฝขๆ…‹ๅญฆ็š„ใ€่ก€่กŒๅ‹•ๆ…‹็š„ใซใ€ใฒใจใคใฎๅฟƒๅฎคใ—ใ‹ๅญ˜ๅœจใ—ใชใ„ใ‚‚ใฎใ€‚ใŸใ ใ—ใ€็—•่ทก็š„ใซใ‚‚ใ†ใฒใจใคใฎๅฟƒๅฎคใŒๅญ˜ๅœจใ—ใฆใ‚‚ใ‚ˆใ„ใ€‚็—•่ทก็š„ๅฟƒๅฎคใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใซใฏใ€ใใฎ็—•่ทก็š„ๅฟƒๅฎคใซใฏๆˆฟๅฎคๅผไป˜ๅฑžๅ™จใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ๅทฆๅฎคๅž‹ๅ˜ๅฟƒๅฎคใจๅณๅฎคๅž‹ๅ˜ๅฟƒๅฎคใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใŒๅ›ฐ้›ฃใช็–พๆ‚ฃใฎใฒใจใคใงใ‚ใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅค–็ง‘ๆฒป็™‚ใฎ้€ฒๆญฉใงไบˆๅพŒใŒๆ”นๅ–„ใ•ใ‚ŒใฆใใŸใ€‚่‚บ่ก€ๆตใฎๅคšๅฏกใ‚„่‚บ้™่„ˆใฎ็‹ญ็ช„ใซใ‚ˆใ‚Š่ก€่กŒๅ‹•ๆ…‹ใฏ็•ฐใชใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่‚บ่ก€ๆตใฎๅคšๅฐ‘ใซใ‚ˆใ‚Šไธ‰็พคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚1. ่‚บ่ก€ๆตๅข—ๅŠ ็พคใƒใ‚ขใƒŽใƒผใ‚ผใฏ่ปฝใ„ใŒใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆๅฟƒไธๅ…จใ‚’ๆฅใŸใ—ไบˆๅพŒไธ่‰ฏใชใ‚‚ใฎใŒๅคšใ„ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏๅฟƒไธๅ…จ็—‡็ŠถใŒไธปใงใ‚ใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฏ็›ฎ็ซ‹ใŸใชใ„ใ€‚ๅคงๅ‹•่„ˆๆตๅ‡บ่ทฏใฎ้–‰ๅกžๆ€ง็—…ๅค‰๏ผˆ็ƒๅฎคๅญ”็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใƒป้–‰้Ž–๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚2. ่‘—ใ—ใ„่‚บ่ก€ๆตๆธ›ๅฐ‘็พค้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„้–‰้Ž–ใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Š่‘—ๆ˜Žใชใƒใ‚ขใƒŽใƒผใ‚ผใŒ็พใ‚ŒไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹่ซธ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚Œใฐๅคšใใฏไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ใ€‚้‡ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎๅˆไฝตใงใฏใ€ๅณๅฎคๆ€งๅ˜ๅฟƒๅฎคใจใใซ่‡“ๅ™จๅฟƒๆˆฟ้Œฏไฝใซๅคšใใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใง็™บ็—‡ใ—ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใซใ‚ˆใ‚‹ๅŽ็ธฎๆ€ง้ง†ๅ‡บๆ€ง้›‘้Ÿณใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใซใ‚ˆใ‚‹้€ฃ็ถšๆ€ง้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚3. ้ฉๅบฆใช่‚บ่ก€ๆตใ‚’็คบใ™็พคไธญ็ญ‰ๅบฆไปฅไธ‹ใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใ€่‡จๅบŠ็š„ใซใฏใปใจใ‚“ใฉใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใชใ„ใ‹่ปฝๅบฆใงใ‚ใ‚‹ใ€‚้‹ๅ‹•่ƒฝใฏ่‰ฏใไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๆ‰‹่ก“็„กใ—ใงไธญๅนดๆœŸใพใง็”Ÿๅญ˜ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไปฅไธŠใฎ๏ผ“็พคใฎใฉใ‚Œใงใ‚ใฃใฆใ‚‚ใ€ๅŸบๆœฌ็š„ใซใฏใ€ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏใ€ๅฟƒๅฎคไธญ้š”ๅฝขๆˆ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ้•ทๆœŸไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 2200250 - + + 68 + ๅฝขๆ…‹ๅญฆ็š„ใ€่ก€่กŒๅ‹•ๆ…‹็š„ใซใ€ใฒใจใคใฎๅฟƒๅฎคใ—ใ‹ๅญ˜ๅœจใ—ใชใ„ใ‚‚ใฎใ€‚ใŸใ ใ—ใ€็—•่ทก็š„ใซใ‚‚ใ†ใฒใจใคใฎๅฟƒๅฎคใŒๅญ˜ๅœจใ—ใฆใ‚‚ใ‚ˆใ„ใ€‚็—•่ทก็š„ๅฟƒๅฎคใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใซใฏใ€ใใฎ็—•่ทก็š„ๅฟƒๅฎคใซใฏๆˆฟๅฎคๅผไป˜ๅฑžๅ™จใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ๅทฆๅฎคๅž‹ๅ˜ๅฟƒๅฎคใจๅณๅฎคๅž‹ๅ˜ๅฟƒๅฎคใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใŒๅ›ฐ้›ฃใช็–พๆ‚ฃใฎใฒใจใคใงใ‚ใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅค–็ง‘ๆฒป็™‚ใฎ้€ฒๆญฉใงไบˆๅพŒใŒๆ”นๅ–„ใ•ใ‚ŒใฆใใŸใ€‚่‚บ่ก€ๆตใฎๅคšๅฏกใ‚„่‚บ้™่„ˆใฎ็‹ญ็ช„ใซใ‚ˆใ‚Š่ก€่กŒๅ‹•ๆ…‹ใฏ็•ฐใชใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่‚บ่ก€ๆตใฎๅคšๅฐ‘ใซใ‚ˆใ‚Šไธ‰็พคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚1. ่‚บ่ก€ๆตๅข—ๅŠ ็พคใƒใ‚ขใƒŽใƒผใ‚ผใฏ่ปฝใ„ใŒใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆๅฟƒไธๅ…จใ‚’ๆฅใŸใ—ไบˆๅพŒไธ่‰ฏใชใ‚‚ใฎใŒๅคšใ„ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏๅฟƒไธๅ…จ็—‡็ŠถใŒไธปใงใ‚ใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฏ็›ฎ็ซ‹ใŸใชใ„ใ€‚ๅคงๅ‹•่„ˆๆตๅ‡บ่ทฏใฎ้–‰ๅกžๆ€ง็—…ๅค‰๏ผˆ็ƒๅฎคๅญ”็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใƒป้–‰้Ž–๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚2. ่‘—ใ—ใ„่‚บ่ก€ๆตๆธ›ๅฐ‘็พค้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„้–‰้Ž–ใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Š่‘—ๆ˜Žใชใƒใ‚ขใƒŽใƒผใ‚ผใŒ็พใ‚ŒไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹่ซธ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚Œใฐๅคšใใฏไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ใ€‚้‡ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎๅˆไฝตใงใฏใ€ๅณๅฎคๆ€งๅ˜ๅฟƒๅฎคใจใใซ่‡“ๅ™จๅฟƒๆˆฟ้Œฏไฝใซๅคšใใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใง็™บ็—‡ใ—ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใซใ‚ˆใ‚‹ๅŽ็ธฎๆ€ง้ง†ๅ‡บๆ€ง้›‘้Ÿณใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใซใ‚ˆใ‚‹้€ฃ็ถšๆ€ง้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚3. ้ฉๅบฆใช่‚บ่ก€ๆตใ‚’็คบใ™็พคไธญ็ญ‰ๅบฆไปฅไธ‹ใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใ€่‡จๅบŠ็š„ใซใฏใปใจใ‚“ใฉใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใชใ„ใ‹่ปฝๅบฆใงใ‚ใ‚‹ใ€‚้‹ๅ‹•่ƒฝใฏ่‰ฏใไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๆ‰‹่ก“็„กใ—ใงไธญๅนดๆœŸใพใง็”Ÿๅญ˜ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไปฅไธŠใฎ๏ผ“็พคใฎใฉใ‚Œใงใ‚ใฃใฆใ‚‚ใ€ๅŸบๆœฌ็š„ใซใฏใ€ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏใ€ๅฟƒๅฎคไธญ้š”ๅฝขๆˆ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ้•ทๆœŸไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:2200250 + Single ventricle + ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ† ๅ˜ๅฟƒๅฎค็—‡ - + - + + ๅ˜ๅฟƒๅฎค็—‡ - - 24 - ไธ‰ๅฐ–ๅผๅฃใŒ็ญ‹ๆ€ง้–‰้Ž–ใ—ใฆๅฟƒๆˆฟใจๅณๅฟƒๅฎคใฎไบค้€šใŒ้ฎๆ–ญใ•ใ‚ŒใŸๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅณๅฟƒๆˆฟใธ้‚„ใฃใฆใใŸ้™่„ˆ่ก€ใฏๅ…จใฆๅฟƒๆˆฟ้–“ไบค้€šใ‚’้€šใ‚Šๅทฆๅฟƒๆˆฟใธๆตใ‚Œใ€ๆฉŸ่ƒฝ็š„ใชๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใฎๆœ‰็„กใจๅฟƒๅฎคๅคง่ก€็ฎกใฎ้–ขไฟ‚ใงๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใชใ„ใจ่‚บ้ซ˜่ก€ๅœงใจใชใ‚‹ใ€‚ใ™ใชใ‚ใกใ€Keith-Edwardsใฎๅˆ†้กžใงใฏโ… ๅž‹ใฏๆญฃๅธธๅคง่ก€็ฎก้–ขไฟ‚ใ€โ…กๅž‹ใฏdๅž‹ๅคง่ก€็ฎก่ปขๆ›ใฎใ‚‚ใฎใจใชใ‚Šใ€ใใ‚Œใžใ‚Œใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ‚’ไผดใ†ใ‚‚ใฎใŒaๅž‹ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒbๅž‹ใ€่‚บ้ซ˜่ก€ๅœงใซใชใ‚‹cๅž‹ใจๅˆ†้กžใ•ใ‚Œใ€็ต„ใฟๅˆใ‚ใ›ใงโ… ๏ฝ‚ใชใฉใจ่กจ็พใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใฎๅž‹ใ‚‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ใชใใ™ใซใฏใ€Fontanๆ‰‹่ก“ใ—ใ‹ใชใ„ใ€‚Fontanๆ‰‹่ก“ใŒๆˆ็ซ‹ใ™ใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅญ˜็Ž‡ใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€Fontanๆ‰‹่ก“๏ผ’๏ผๅนดไปฅไธŠ็ตŒ้Žใ™ใ‚‹ใจใ€ๆง˜ใ€…ใชFontan่ก“ๅพŒ็—‡ๅ€™็พคใŒ็™บ็—‡ใ—ใฆใ€้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 2200251 - + + 24 + ไธ‰ๅฐ–ๅผๅฃใŒ็ญ‹ๆ€ง้–‰้Ž–ใ—ใฆๅฟƒๆˆฟใจๅณๅฟƒๅฎคใฎไบค้€šใŒ้ฎๆ–ญใ•ใ‚ŒใŸๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅณๅฟƒๆˆฟใธ้‚„ใฃใฆใใŸ้™่„ˆ่ก€ใฏๅ…จใฆๅฟƒๆˆฟ้–“ไบค้€šใ‚’้€šใ‚Šๅทฆๅฟƒๆˆฟใธๆตใ‚Œใ€ๆฉŸ่ƒฝ็š„ใชๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใฎๆœ‰็„กใจๅฟƒๅฎคๅคง่ก€็ฎกใฎ้–ขไฟ‚ใงๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใชใ„ใจ่‚บ้ซ˜่ก€ๅœงใจใชใ‚‹ใ€‚ใ™ใชใ‚ใกใ€Keith-Edwardsใฎๅˆ†้กžใงใฏโ… ๅž‹ใฏๆญฃๅธธๅคง่ก€็ฎก้–ขไฟ‚ใ€โ…กๅž‹ใฏdๅž‹ๅคง่ก€็ฎก่ปขๆ›ใฎใ‚‚ใฎใจใชใ‚Šใ€ใใ‚Œใžใ‚Œใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ‚’ไผดใ†ใ‚‚ใฎใŒaๅž‹ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒbๅž‹ใ€่‚บ้ซ˜่ก€ๅœงใซใชใ‚‹cๅž‹ใจๅˆ†้กžใ•ใ‚Œใ€็ต„ใฟๅˆใ‚ใ›ใงโ… ๏ฝ‚ใชใฉใจ่กจ็พใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใฎๅž‹ใ‚‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ใชใใ™ใซใฏใ€Fontanๆ‰‹่ก“ใ—ใ‹ใชใ„ใ€‚Fontanๆ‰‹่ก“ใŒๆˆ็ซ‹ใ™ใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅญ˜็Ž‡ใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€Fontanๆ‰‹่ก“๏ผ’๏ผๅนดไปฅไธŠ็ตŒ้Žใ™ใ‚‹ใจใ€ๆง˜ใ€…ใชFontan่ก“ๅพŒ็—‡ๅ€™็พคใŒ็™บ็—‡ใ—ใฆใ€้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:2200251 + Tricuspid atresia + ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ† ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ + - - + ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ - - 84 - ่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ใ€‚ใ„ใ‚ใ‚†ใ‚‹ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใฎๅฝขๆ…‹ใจใชใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใชใ„ใ—ใฏไธป่ฆไฝ“่‚บๅดๅ‰ฏ่ก€็ฎก๏ผˆMAPCA๏ผ‰ใง่ณ„ใ‚ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใพใŸใฏใ€ไฝ“่‚บๅดๅ‰ฏ่ก€็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€ใใ‚Œใ‚‰ใฎ่ก€็ฎกใฎ้–‹ๅญ˜็Šถๆณใซใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฎ็จ‹ๅบฆใซๅทฎใŒใ‚ใ‚‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚„ๅดๅ‰ฏ่ก€็ฎกใซใ‚ˆใ‚‹้€ฃ็ถšๆ€งๅฟƒ้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚ๅง‘ๆฏ่ก“ใจใ—ใฆใ€็ดฐใ„่‚บๅ‹•่„ˆใซๅฏพใ—็Ÿญ็ตก่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚MAPCAใŒๅคšๆ•ฐๅญ˜ๅœจใ—ๅŒบๅŸŸ่‚บๅ‹•่„ˆใ‚’ไธญๅฟƒ่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๅ ดๅˆใซใฏuniforcalization:UFใ‚’ๅฎŸๆ–ฝใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฎๆˆ้•ทใ‚’ๅพ…ใฃใฆใ€ๅฐ†ๆฅ็š„ใซใฏๅฟƒๅ†…ไฟฎๅพฉ่ก“ใจๅณๅฎคๆตๅ‡บ่ทฏๅ†ๅปบ่ก“๏ผˆRastelliๆณ•๏ผ‰ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Rastelliๆ‰‹่ก“ๅพŒใ‚‚ใ€้ ้š”ๆœŸใซๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใฃใŸใ‚Šใ€ไธๆ•ด่„ˆใ‚„ๅฟƒๆฉŸ่ƒฝไธๅ…จใซใชใฃใŸใ‚Šใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200252 - + + 84 + ่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ใ€‚ใ„ใ‚ใ‚†ใ‚‹ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใฎๅฝขๆ…‹ใจใชใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใชใ„ใ—ใฏไธป่ฆไฝ“่‚บๅดๅ‰ฏ่ก€็ฎก๏ผˆMAPCA๏ผ‰ใง่ณ„ใ‚ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใพใŸใฏใ€ไฝ“่‚บๅดๅ‰ฏ่ก€็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€ใใ‚Œใ‚‰ใฎ่ก€็ฎกใฎ้–‹ๅญ˜็Šถๆณใซใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฎ็จ‹ๅบฆใซๅทฎใŒใ‚ใ‚‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚„ๅดๅ‰ฏ่ก€็ฎกใซใ‚ˆใ‚‹้€ฃ็ถšๆ€งๅฟƒ้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚ๅง‘ๆฏ่ก“ใจใ—ใฆใ€็ดฐใ„่‚บๅ‹•่„ˆใซๅฏพใ—็Ÿญ็ตก่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚MAPCAใŒๅคšๆ•ฐๅญ˜ๅœจใ—ๅŒบๅŸŸ่‚บๅ‹•่„ˆใ‚’ไธญๅฟƒ่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๅ ดๅˆใซใฏuniforcalization:UFใ‚’ๅฎŸๆ–ฝใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฎๆˆ้•ทใ‚’ๅพ…ใฃใฆใ€ๅฐ†ๆฅ็š„ใซใฏๅฟƒๅ†…ไฟฎๅพฉ่ก“ใจๅณๅฎคๆตๅ‡บ่ทฏๅ†ๅปบ่ก“๏ผˆRastelliๆณ•๏ผ‰ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Rastelliๆ‰‹่ก“ๅพŒใ‚‚ใ€้ ้š”ๆœŸใซๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใฃใŸใ‚Šใ€ไธๆ•ด่„ˆใ‚„ๅฟƒๆฉŸ่ƒฝไธๅ…จใซใชใฃใŸใ‚Šใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200252 + Pulmonary atresia with ventricular septal defect + ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ† ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ + - - + + ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ - - 85 - ่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„็Šถๆ…‹ใ‚’ใ€็ด”ๅž‹่‚บๅ‹•่„ˆ้–‰้Ž–ใจๅ‘ผใถใ€‚้‡็—‡่‚บๅ‹•่„ˆ็‹ญ็ช„ใจๅŒๆง˜ใซๅณๅฎคไฝŽๅฝขๆˆใ‚’ไผดใ†ใ“ใจใŒๅคšใ„๏ผˆๅณๅฎคไฝŽๅฝขๆˆ็—‡ๅ€™็พค๏ผ‰ใ€‚็”Ÿๅญ˜ใซใฏๅฟƒๆˆฟ้–“ไบค้€šใŒๅฟ…้ ˆใงๅณๆˆฟ่ก€ใฏๅทฆๆˆฟใธ่ฟ‚ๅ›žใ™ใ‚‹ใ€‚ใพใŸใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ€‚ๅณๅฎคใจๅ† ๅ‹•่„ˆใŒไบค้€šใ—ใฆใ„ใ‚‹้กžๆดžไบค้€šใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚้กžๆดžไบค้€šใซไผดใฃใฆใ€ๅ† ๅ‹•่„ˆใŒ็‹ญ็ช„ใ—ใŸใ‚Š้€”ไธญใง้€”็ตถใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ใใฎๅ ดๅˆใ€ๅ† ๅ‹•่„ˆ่ก€ๆตใฏ้ซ˜ใ„ๅณๅฎคๅœงใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200253 - + + 85 + ่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„็Šถๆ…‹ใ‚’ใ€็ด”ๅž‹่‚บๅ‹•่„ˆ้–‰้Ž–ใจๅ‘ผใถใ€‚้‡็—‡่‚บๅ‹•่„ˆ็‹ญ็ช„ใจๅŒๆง˜ใซๅณๅฎคไฝŽๅฝขๆˆใ‚’ไผดใ†ใ“ใจใŒๅคšใ„๏ผˆๅณๅฎคไฝŽๅฝขๆˆ็—‡ๅ€™็พค๏ผ‰ใ€‚็”Ÿๅญ˜ใซใฏๅฟƒๆˆฟ้–“ไบค้€šใŒๅฟ…้ ˆใงๅณๆˆฟ่ก€ใฏๅทฆๆˆฟใธ่ฟ‚ๅ›žใ™ใ‚‹ใ€‚ใพใŸใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ€‚ๅณๅฎคใจๅ† ๅ‹•่„ˆใŒไบค้€šใ—ใฆใ„ใ‚‹้กžๆดžไบค้€šใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚้กžๆดžไบค้€šใซไผดใฃใฆใ€ๅ† ๅ‹•่„ˆใŒ็‹ญ็ช„ใ—ใŸใ‚Š้€”ไธญใง้€”็ตถใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ใใฎๅ ดๅˆใ€ๅ† ๅ‹•่„ˆ่ก€ๆตใฏ้ซ˜ใ„ๅณๅฎคๅœงใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200253 + Pulmonary atresia with intact ventricular septum + ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ‚ใชใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ† ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ + - - + ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ - - 89 - ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผˆtetralogy of Fallot๏ผ‰ใฎๅ››ๅพดใจใฏใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผˆVSD๏ผ‰ใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„๏ผˆPS๏ผ‰ใ€โ‘ขๅคงๅ‹•่„ˆ้จŽไน—ใ€โ‘ฃๅณๅฎค่‚ฅๅคงใ‚’ๆŒ‡ใ™ใ€‚็™บ็”Ÿๅญฆ็š„ใซใฏๅฟƒๅฎคไธญ้š”ใฎๆผๆ–—้ƒจใจใ„ใ†่‚บๅ‹•่„ˆใซ่ฟ‘ใ„้ƒจๅˆ†ใฎไธญ้š”ใŒๅ‰ๆ–น๏ผˆๅณๅฎคๅด๏ผ‰ใซๅไฝใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚ŠVSDใจPS๏ผˆๆญฃ็ขบใซ่จ€ใ†ใจๅณๅฎคใฎๆตๅ‡บ่ทฏ็‹ญ็ช„๏ผ‰ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใจใฎ้•ใ„ใฏใ€ๆœฌ็—‡ใงใฏๅƒงๅธฝๅผใจๅคงๅ‹•่„ˆๅผใฏ็ทš็ถญๆ€งใซ้€ฃ็ถšใ—ใฆใ„ใ‚‹็‚นใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅน…ๅบƒใ„่‡จๅบŠๅƒใ‚’็คบใ™ใŒใ€ไธๅฎ‰ๅฎšใ‹ใค้€ฒ่กŒๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใจใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅค–็ง‘ๆฒป็™‚ใชใ—ใงใฏ็”Ÿๅ‘ฝไบˆๅพŒใฏ1ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€3ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๆญปไบกๅŽŸๅ› ใจใ—ใฆใฏไฝŽ้…ธ็ด ็™บไฝœใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใงใ€ๅนด้•ทๅ…ใงใฏๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซๆ‰‹่ก“ไพ‹ใฎ้•ทๆœŸไบˆๅพŒใฏ่‰ฏๅฅฝใง่ก“ๅพŒ30ๅนดใฎ็”Ÿๅญ˜็Ž‡ใฏ98๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅ้™ใซใฏใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใงใ€ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใฃใŸใ‚Šใ€ๅฟƒไธๅ…จใซใชใฃใŸใ‚Šใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ - 2200254 - + + 89 + ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผˆtetralogy of Fallot๏ผ‰ใฎๅ››ๅพดใจใฏใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผˆVSD๏ผ‰ใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„๏ผˆPS๏ผ‰ใ€โ‘ขๅคงๅ‹•่„ˆ้จŽไน—ใ€โ‘ฃๅณๅฎค่‚ฅๅคงใ‚’ๆŒ‡ใ™ใ€‚็™บ็”Ÿๅญฆ็š„ใซใฏๅฟƒๅฎคไธญ้š”ใฎๆผๆ–—้ƒจใจใ„ใ†่‚บๅ‹•่„ˆใซ่ฟ‘ใ„้ƒจๅˆ†ใฎไธญ้š”ใŒๅ‰ๆ–น๏ผˆๅณๅฎคๅด๏ผ‰ใซๅไฝใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚ŠVSDใจPS๏ผˆๆญฃ็ขบใซ่จ€ใ†ใจๅณๅฎคใฎๆตๅ‡บ่ทฏ็‹ญ็ช„๏ผ‰ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใจใฎ้•ใ„ใฏใ€ๆœฌ็—‡ใงใฏๅƒงๅธฝๅผใจๅคงๅ‹•่„ˆๅผใฏ็ทš็ถญๆ€งใซ้€ฃ็ถšใ—ใฆใ„ใ‚‹็‚นใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅน…ๅบƒใ„่‡จๅบŠๅƒใ‚’็คบใ™ใŒใ€ไธๅฎ‰ๅฎšใ‹ใค้€ฒ่กŒๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใจใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅค–็ง‘ๆฒป็™‚ใชใ—ใงใฏ็”Ÿๅ‘ฝไบˆๅพŒใฏ1ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€3ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๆญปไบกๅŽŸๅ› ใจใ—ใฆใฏไฝŽ้…ธ็ด ็™บไฝœใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใงใ€ๅนด้•ทๅ…ใงใฏๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซๆ‰‹่ก“ไพ‹ใฎ้•ทๆœŸไบˆๅพŒใฏ่‰ฏๅฅฝใง่ก“ๅพŒ30ๅนดใฎ็”Ÿๅญ˜็Ž‡ใฏ98๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅ้™ใซใฏใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใงใ€ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใฃใŸใ‚Šใ€ๅฟƒไธๅ…จใซใชใฃใŸใ‚Šใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ + NANDO:2200254 + Tetralogy of Fallot + ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ + - - + Fallotๅ››ๅพด็—‡ ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ - - 96 - ่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ๅคงๅ‹•่„ˆใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใฏๅคงๅ‹•่„ˆใฎๅณๆจช๏ผˆside by side๏ผ‰ใ‹ๅณๅพŒ๏ผˆtrue Taussig Bing heart๏ผ‰ใฎใ“ใจใ‚„ใ€ๅณๅ‰๏ผˆfalse Taussig Bing heart๏ผ‰ใซใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡DORVใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฏๅฟƒๅฎคไธญ้š”ใซ้จŽไน—ใ—ใ€่‚บๅ‹•่„ˆๅผไธ‹ใซๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใฎโ…กๅž‹ใซ้กžไผผใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใจ่‚บๅ‹•่„ˆๅผไธ‹ใซconusใŒๅญ˜ๅœจใ™ใ‚‹๏ผˆdouble conus๏ผ‰ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅทฆๅฎคใฎ้ง†ๅ‡บ่ก€ใฏใ€็›ดๆŽฅ่‚บๅ‹•่„ˆใธ้ง†ๅ‡บใ•ใ‚Œใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅคง่ก€็ฎก่ปขๆ›ใจ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ‚„ใ™ใ„ใ€‚ๆ‰‹่ก“ใฏๅŸบๆœฌ็š„ใซใฏๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“๏ผˆJatene่ก“๏ผ‰ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ‰‹่ก“ใฎ้›ฃๆ˜“ๅบฆใฏ้ซ˜ใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 2200255 - + + 96 + ่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ๅคงๅ‹•่„ˆใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใฏๅคงๅ‹•่„ˆใฎๅณๆจช๏ผˆside by side๏ผ‰ใ‹ๅณๅพŒ๏ผˆtrue Taussig Bing heart๏ผ‰ใฎใ“ใจใ‚„ใ€ๅณๅ‰๏ผˆfalse Taussig Bing heart๏ผ‰ใซใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡DORVใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฏๅฟƒๅฎคไธญ้š”ใซ้จŽไน—ใ—ใ€่‚บๅ‹•่„ˆๅผไธ‹ใซๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใฎโ…กๅž‹ใซ้กžไผผใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใจ่‚บๅ‹•่„ˆๅผไธ‹ใซconusใŒๅญ˜ๅœจใ™ใ‚‹๏ผˆdouble conus๏ผ‰ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅทฆๅฎคใฎ้ง†ๅ‡บ่ก€ใฏใ€็›ดๆŽฅ่‚บๅ‹•่„ˆใธ้ง†ๅ‡บใ•ใ‚Œใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅคง่ก€็ฎก่ปขๆ›ใจ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ‚„ใ™ใ„ใ€‚ๆ‰‹่ก“ใฏๅŸบๆœฌ็š„ใซใฏๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“๏ผˆJatene่ก“๏ผ‰ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ‰‹่ก“ใฎ้›ฃๆ˜“ๅบฆใฏ้ซ˜ใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:2200255 + Taussig-Bing anomaly + ใŸใ†ใ˜ใฃใฒใƒปใณใ‚“ใใใ‘ใ„ ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข - + Taussig-Bingๅฅ‡ๅฝข + ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข - - 97 - ่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ใฒใจใคใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€ไป–ใฎใฒใจใคใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…จๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ็ด„1.5๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง้€ฃ็ถšใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆVSDใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใจๅคง่ก€็ฎก็›ธไบ’ใฎไฝ็ฝฎ้–ขไฟ‚ใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใฏโ‘ ๅคงๅ‹•่„ˆๅผไธ‹subaortic โ‘ก่‚บๅ‹•่„ˆๅผไธ‹subpulmonic โ‘ขไธกๅŠๆœˆๅผไธ‹doubly committed(โ‘ ๏ผ‹โ‘ก) โ‘ฃ้ ไฝๅž‹remote(non-committed)ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅคง่ก€็ฎก้–ขไฟ‚ใฏdๅž‹ใ€lๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚Taussig๏ผBingๅฅ‡ๅฝขใฏไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใฎไธญใงใ€ไธกๅคง่ก€็ฎกใŒside by sideใซใชใ‚‰ใณใ€่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใฎใŸใ‚ใซ่‚บๅ‹•่„ˆใŒไธญ้š”ใซ้จŽไน—ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไผดใ‚ใชใ„ๅž‹ใงใ€ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ๅž‹ใงใฏPHใฎ้€ฒ่กŒใŒ้€šๅธธใฎVSDใ‚ˆใ‚Š้€Ÿใ„ใฎใงไนณๅ…ๆœŸใฎไธ€ๆœŸ็š„ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆœ›ใพใ—ใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใ‚ใ‚‹ๅž‹ใงใฏใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจๅŒๆง˜ใซ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใŒใ‚ใ‚Œใฐ็Ÿญ็ตก่ก“ใชใฉใฎๅง‘ๆฏ่ก“ใฎๅพŒใซRastelliๆ‰‹่ก“ใŒๅฎŸๆ–ฝใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹DORVใงใฏๅคง่ก€็ฎก่ปขๆ›็—‡ใจๅŒๆง˜ใซๅคง่ก€็ฎกใ‚นใ‚ฃใƒƒใƒ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้ ไฝๅž‹VSDใงใฏFontanๅž‹ๆ‰‹่ก“ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไธ€่ˆฌใซใ€ๆœฌ็—‡ใฏ้‡็—‡ใงใ€่ก“ๅพŒใฎๅ•้กŒใŒ็™บ็”Ÿใ™ใ‚‹็Ž‡ใ‚‚้ซ˜ใใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200256 - - Double-outlet right ventricle + + 97 + ่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ใฒใจใคใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€ไป–ใฎใฒใจใคใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…จๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ็ด„1.5๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง้€ฃ็ถšใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆVSDใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใจๅคง่ก€็ฎก็›ธไบ’ใฎไฝ็ฝฎ้–ขไฟ‚ใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใฏโ‘ ๅคงๅ‹•่„ˆๅผไธ‹subaortic โ‘ก่‚บๅ‹•่„ˆๅผไธ‹subpulmonic โ‘ขไธกๅŠๆœˆๅผไธ‹doubly committed(โ‘ ๏ผ‹โ‘ก) โ‘ฃ้ ไฝๅž‹remote(non-committed)ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅคง่ก€็ฎก้–ขไฟ‚ใฏdๅž‹ใ€lๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚Taussig๏ผBingๅฅ‡ๅฝขใฏไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใฎไธญใงใ€ไธกๅคง่ก€็ฎกใŒside by sideใซใชใ‚‰ใณใ€่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใฎใŸใ‚ใซ่‚บๅ‹•่„ˆใŒไธญ้š”ใซ้จŽไน—ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไผดใ‚ใชใ„ๅž‹ใงใ€ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ๅž‹ใงใฏPHใฎ้€ฒ่กŒใŒ้€šๅธธใฎVSDใ‚ˆใ‚Š้€Ÿใ„ใฎใงไนณๅ…ๆœŸใฎไธ€ๆœŸ็š„ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆœ›ใพใ—ใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใ‚ใ‚‹ๅž‹ใงใฏใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจๅŒๆง˜ใซ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใŒใ‚ใ‚Œใฐ็Ÿญ็ตก่ก“ใชใฉใฎๅง‘ๆฏ่ก“ใฎๅพŒใซRastelliๆ‰‹่ก“ใŒๅฎŸๆ–ฝใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹DORVใงใฏๅคง่ก€็ฎก่ปขๆ›็—‡ใจๅŒๆง˜ใซๅคง่ก€็ฎกใ‚นใ‚ฃใƒƒใƒ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้ ไฝๅž‹VSDใงใฏFontanๅž‹ๆ‰‹่ก“ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไธ€่ˆฌใซใ€ๆœฌ็—‡ใฏ้‡็—‡ใงใ€่ก“ๅพŒใฎๅ•้กŒใŒ็™บ็”Ÿใ™ใ‚‹็Ž‡ใ‚‚้ซ˜ใใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200256 + + Double outlet right ventricle + ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ† ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ - - + - - + ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ - - 98 - ่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใจใ‚‚ใซๅทฆๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏไธ‰ๅฐ–ๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏๅคงๅ‹•่„ˆๅผไธ‹ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ใใฎๅ ดๅˆใซใฏ่‚บ่ก€ๆตใŒๆธ›ๅฐ‘ใ—ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ไพ‹ใงใฏใ€่‚บ่ก€ๆตใฏๅข—ๅŠ ใ—ใฆ่‚บ้ซ˜่ก€ๅœงใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใซใฏRastelliๆ‰‹่ก“ใ€ๅณๅฎคๆตๅ‡บ่ทฏๅฝขๆˆ่ก“ใ€ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ€Fontanๅž‹ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ๆ‰‹่ก“ๅฝขๅผใซใ‚ˆใ‚‹ใŒใ€้‡็—‡ใช็–พๆ‚ฃใงใ€ไบˆๅพŒไธ่‰ฏใชใ“ใจใ‚‚ๅคšใ„ใ€‚ - 2200257 - + + 98 + ่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใจใ‚‚ใซๅทฆๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏไธ‰ๅฐ–ๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏๅคงๅ‹•่„ˆๅผไธ‹ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ใใฎๅ ดๅˆใซใฏ่‚บ่ก€ๆตใŒๆธ›ๅฐ‘ใ—ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ไพ‹ใงใฏใ€่‚บ่ก€ๆตใฏๅข—ๅŠ ใ—ใฆ่‚บ้ซ˜่ก€ๅœงใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใซใฏRastelliๆ‰‹่ก“ใ€ๅณๅฎคๆตๅ‡บ่ทฏๅฝขๆˆ่ก“ใ€ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ€Fontanๅž‹ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ๆ‰‹่ก“ๅฝขๅผใซใ‚ˆใ‚‹ใŒใ€้‡็—‡ใช็–พๆ‚ฃใงใ€ไบˆๅพŒไธ่‰ฏใชใ“ใจใ‚‚ๅคšใ„ใ€‚ + NANDO:2200257 + Double-outlet left ventricle + ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ•ใ—ใคใใ—ใ—ใ‚‡ใ† ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡ - + ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡ - - 8 - ๅณๅฟƒๆˆฟใจๅณๅฎคใ€ๅทฆๅฟƒๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹ใซๅˆ†้กžใ™ใ‚‹ใ€‚ไฝ“่ก€ๆตใฏ้…ธ็ด ้ฃฝๅ’ŒๅบฆใŒไฝŽใๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„ๅž‹ใงใฏ็‰นใซใƒใ‚ขใƒŽใƒผใ‚ผใŒ็›ฎ็ซ‹ใคใ€‚ๅฟƒๆˆฟ้–“ไบค้€šใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒ็”Ÿๅญ˜ใซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ† ็Šถๅ‹•่„ˆใฎ่ตฐ่กŒใซใ‚‚ๅคšใใฎๅž‹ใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ๆ™‚ใซใฏ้‡่ฆใชๆ‰€่ฆ‹ใจใชใ‚‹ใ€‚ๆฒป็™‚ไป‹ๅ…ฅใชใ—ใงใฏ1ใƒถๆœˆใง50๏ผ…ใŒใ€6ใƒถๆœˆใง85๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚่‡ช็„ถๆญดใงใฏIๅž‹ใŒๆœ€ใ‚‚ไบˆๅพŒไธ่‰ฏใง1ใƒถๆœˆใงไฝŽ้…ธ็ด ใฎใŸใ‚80๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚IIๅž‹ใงใฏ1ใƒถๆœˆใง10๏ผ…ๆญปไบกใ—ใ€IIIๅž‹ใฎ่‡ช็„ถๆญดใŒๆœ€ใ‚‚ใ‚ˆใ„ใ€‚Iๅž‹ใ€IIๅž‹ใงๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“ใฎ้ ้š”ๆœŸใฎไบˆๅพŒใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ€ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200258 - + + 8 + ๅณๅฟƒๆˆฟใจๅณๅฎคใ€ๅทฆๅฟƒๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹ใซๅˆ†้กžใ™ใ‚‹ใ€‚ไฝ“่ก€ๆตใฏ้…ธ็ด ้ฃฝๅ’ŒๅบฆใŒไฝŽใๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„ๅž‹ใงใฏ็‰นใซใƒใ‚ขใƒŽใƒผใ‚ผใŒ็›ฎ็ซ‹ใคใ€‚ๅฟƒๆˆฟ้–“ไบค้€šใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒ็”Ÿๅญ˜ใซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ† ็Šถๅ‹•่„ˆใฎ่ตฐ่กŒใซใ‚‚ๅคšใใฎๅž‹ใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ๆ™‚ใซใฏ้‡่ฆใชๆ‰€่ฆ‹ใจใชใ‚‹ใ€‚ๆฒป็™‚ไป‹ๅ…ฅใชใ—ใงใฏ1ใƒถๆœˆใง50๏ผ…ใŒใ€6ใƒถๆœˆใง85๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚่‡ช็„ถๆญดใงใฏIๅž‹ใŒๆœ€ใ‚‚ไบˆๅพŒไธ่‰ฏใง1ใƒถๆœˆใงไฝŽ้…ธ็ด ใฎใŸใ‚80๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚IIๅž‹ใงใฏ1ใƒถๆœˆใง10๏ผ…ๆญปไบกใ—ใ€IIIๅž‹ใฎ่‡ช็„ถๆญดใŒๆœ€ใ‚‚ใ‚ˆใ„ใ€‚Iๅž‹ใ€IIๅž‹ใงๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“ใฎ้ ้š”ๆœŸใฎไบˆๅพŒใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ€ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200258 + Complete transposition of the great arteries + ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ† ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ - + - + complete tga + ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ - - 52 - ๅณๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใซใคใชใŒใ‚Šใใฎๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—๏ผŒๅทฆๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใซใคใชใŒ ใ‚Šใใฎๅณๅฎคใ‹ใ‚‰ ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ ใ€‚ๅฟƒๅ†…ใซไป–ใฎๅฅ‡ๅฝขใŒใชใ„ๅ ดๅˆ๏ผŒ้™่„ˆ่ก€ ใฏ่‚บๅ‹•่„ˆใธ๏ผŒ่‚บ้™่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ ใ€‚ใ—ใ‹ใ—๏ผŒๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹ ่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใ ๏ผŒใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡ ็Šถใ‚’ๅ‘ˆใ™ใ‚‹ ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น ็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚๏ผŒๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ - 2200259 - + + 52 + ๅณๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใซใคใชใŒใ‚Šใใฎๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—๏ผŒๅทฆๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใซใคใชใŒ ใ‚Šใใฎๅณๅฎคใ‹ใ‚‰ ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ ใ€‚ๅฟƒๅ†…ใซไป–ใฎๅฅ‡ๅฝขใŒใชใ„ๅ ดๅˆ๏ผŒ้™่„ˆ่ก€ ใฏ่‚บๅ‹•่„ˆใธ๏ผŒ่‚บ้™่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ ใ€‚ใ—ใ‹ใ—๏ผŒๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹ ่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใ ๏ผŒใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡ ็Šถใ‚’ๅ‘ˆใ™ใ‚‹ ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น ็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚๏ผŒๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ + NANDO:2200259 + Congenitally corrected transposition of the great arteries + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ - + ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ - - 3 - ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใฏใ€ไธ‰ๅฐ–ๅผใจๅณๅฎคๆตๅ…ฅ้ƒจใฎๅฅ‡ๅฝขใงใ€ไธ‰ๅฐ–ๅผใŒๅค‰ๅฝขใ—ใ€ใ‹ใคๅณๅฎคๅ†…ใซใšใ‚Œใฆ่ตทๅง‹ใ—ใ€ใใฎ้ƒจๅˆ†ใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅฝขๆˆไธๅ…จใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅณๅฎคๆฉŸ่ƒฝไธๅ…จใจไธ‰ๅฐ–ๅผๆฉŸ่ƒฝไธๅ…จใŒๅฟ…็™บใงใ€ไธ‰ๅฐ–ๅผ็‹ญ็ช„ใ‚„้–‰้Ž–ไธๅ…จใ‚’็จฎใ€…ใฎ็จ‹ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ - 2200260 - - Ebsteinโ€™s anomaly + + 3 + ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใฏใ€ไธ‰ๅฐ–ๅผใจๅณๅฎคๆตๅ…ฅ้ƒจใฎๅฅ‡ๅฝขใงใ€ไธ‰ๅฐ–ๅผใŒๅค‰ๅฝขใ—ใ€ใ‹ใคๅณๅฎคๅ†…ใซใšใ‚Œใฆ่ตทๅง‹ใ—ใ€ใใฎ้ƒจๅˆ†ใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅฝขๆˆไธๅ…จใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅณๅฎคๆฉŸ่ƒฝไธๅ…จใจไธ‰ๅฐ–ๅผๆฉŸ่ƒฝไธๅ…จใŒๅฟ…็™บใงใ€ไธ‰ๅฐ–ๅผ็‹ญ็ช„ใ‚„้–‰้Ž–ไธๅ…จใ‚’็จฎใ€…ใฎ็จ‹ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ + NANDO:2200260 + + Ebstein's anomaly + ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ† ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—… - + + - + Ebstein็—… + ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—… - - 54 - ็ทๅ‹•่„ˆๅนน้บๆฎ‹ใฏใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ใฎ่ก€ๆถฒใ‚’ๅ˜ไธ€ใฎๅคง่ก€็ฎกใŒๅ—ใ‘ใ€ใ“ใ‚Œใ‚ˆใ‚Šๅ† ๅ‹•่„ˆใ€่‚บใŠใ‚ˆใณ็ณป็ตฑๅพช็’ฐใซ็›ดๆŽฅ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ใพใ‚Œใชๅฟƒๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใพใŸใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จๆฒป็™‚ใ€ๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใจใ—ใฆใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซRastelliๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่ก“ๅพŒ้ ้š”ๆœŸใซๅฐŽ็ฎก็‹ญ็ช„ใŒ็™บ็”Ÿใ—ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚ - 2200261 - + + 54 + ็ทๅ‹•่„ˆๅนน้บๆฎ‹ใฏใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ใฎ่ก€ๆถฒใ‚’ๅ˜ไธ€ใฎๅคง่ก€็ฎกใŒๅ—ใ‘ใ€ใ“ใ‚Œใ‚ˆใ‚Šๅ† ๅ‹•่„ˆใ€่‚บใŠใ‚ˆใณ็ณป็ตฑๅพช็’ฐใซ็›ดๆŽฅ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ใพใ‚Œใชๅฟƒๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใพใŸใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จๆฒป็™‚ใ€ๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใจใ—ใฆใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซRastelliๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่ก“ๅพŒ้ ้š”ๆœŸใซๅฐŽ็ฎก็‹ญ็ช„ใŒ็™บ็”Ÿใ—ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚ + NANDO:2200261 + Truncus arteriosus communis + ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ† ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡ - - + - - + ็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡ - - 63 - ไธŠ่กŒๅคงๅ‹•่„ˆใฎๅทฆๅดใจ่‚บๅ‹•่„ˆใฎๅณๅดใจใฎ้–“ใซ็ดข็Šถใ‚ใ‚‹ใ„ใฏ็ช“็Šถใฎไบค้€šใŒใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎไบค้€šๅญ”ใ‚’ไป‹ใ—ใฆใ€ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธ็Ÿญ็ตกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€1830ๅนดใซๅˆใ‚ใฆElliotsonใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€1952ๅนดใซใฏGrossใŒๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ—ใŸใ€‚ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎๅŠๆœˆๅผใŒ่งฃๅ‰–ๅญฆ็š„ใซใ‚‚ๆฉŸ่ƒฝ็š„ใซใ‚‚ๅฎŒๅ…จใซๅˆ†้›ขใ—ใฆใ„ใ‚‹ใ€‚Conus septumใŒๅญ˜ๅœจใ—ใ€็ทๅ‹•่„ˆ็ฎกๆฎ‹้บ็—‡ใจใฏ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ไบค้€šๅญ”ใฎไฝ็ฝฎใ‹ใ‚‰typeI๏ผš่ฟ‘ไฝๆฌ ๆๅž‹ใ€typeII๏ผš้ ไฝๆฌ ๆๅž‹ใ€typeIII๏ผšๅ…จๆฌ ๆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ด„ๅŠๆ•ฐใฎไพ‹ใŒใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ็—‡ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใ€Fallotๅ››ๅพด็—‡ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅฟƒไธๅ…จใซๅฏพใ—ใฆๅˆฉๅฐฟ่–ฌใจ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’ไธญๅฟƒใซใ—ใŸๅ†…็ง‘ๆฒป็™‚ใ‚’่กŒใ„ใ€ๆ‰‹่ก“ใพใงใฎ้–“ๅ…จ่บซ็Šถๆ…‹ใฎๆ”นๅ–„ใซๅŠชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใปใจใ‚“ใฉใฎไพ‹ใฏๅฟƒไธๅ…จใŒๅผทใใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใฎๆ‰‹่ก“ๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ - 2200262 - + + 63 + ไธŠ่กŒๅคงๅ‹•่„ˆใฎๅทฆๅดใจ่‚บๅ‹•่„ˆใฎๅณๅดใจใฎ้–“ใซ็ดข็Šถใ‚ใ‚‹ใ„ใฏ็ช“็Šถใฎไบค้€šใŒใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎไบค้€šๅญ”ใ‚’ไป‹ใ—ใฆใ€ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธ็Ÿญ็ตกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€1830ๅนดใซๅˆใ‚ใฆElliotsonใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€1952ๅนดใซใฏGrossใŒๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ—ใŸใ€‚ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎๅŠๆœˆๅผใŒ่งฃๅ‰–ๅญฆ็š„ใซใ‚‚ๆฉŸ่ƒฝ็š„ใซใ‚‚ๅฎŒๅ…จใซๅˆ†้›ขใ—ใฆใ„ใ‚‹ใ€‚Conus septumใŒๅญ˜ๅœจใ—ใ€็ทๅ‹•่„ˆ็ฎกๆฎ‹้บ็—‡ใจใฏ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ไบค้€šๅญ”ใฎไฝ็ฝฎใ‹ใ‚‰typeI๏ผš่ฟ‘ไฝๆฌ ๆๅž‹ใ€typeII๏ผš้ ไฝๆฌ ๆๅž‹ใ€typeIII๏ผšๅ…จๆฌ ๆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ด„ๅŠๆ•ฐใฎไพ‹ใŒใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ็—‡ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใ€Fallotๅ››ๅพด็—‡ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅฟƒไธๅ…จใซๅฏพใ—ใฆๅˆฉๅฐฟ่–ฌใจ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’ไธญๅฟƒใซใ—ใŸๅ†…็ง‘ๆฒป็™‚ใ‚’่กŒใ„ใ€ๆ‰‹่ก“ใพใงใฎ้–“ๅ…จ่บซ็Šถๆ…‹ใฎๆ”นๅ–„ใซๅŠชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใปใจใ‚“ใฉใฎไพ‹ใฏๅฟƒไธๅ…จใŒๅผทใใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใฎๆ‰‹่ก“ๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ + NANDO:2200262 + Aorto-pulmonary window + ใ ใ„ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ† ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ - + ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ - - 23 - ไธ‰ๅฟƒๆˆฟๅฟƒใฏใ€้€šๅธธใฏๅทฆๆˆฟๆ€งไธ‰ๅฟƒๆˆฟๅฟƒcor triatriatumใ‚’ๆŒ‡ใ—ใ€ๅทฆๆˆฟใŒใ€็•ฐๅธธ้š”ๅฃใซใ‚ˆใฃใฆ่‚บ้™่„ˆใฎ้‚„ๆตใ™ใ‚‹ๅ‰ฏๅฎคaccessory chamberใจๅทฆๅฟƒ่€ณใจๅƒงๆˆฟๅผๅฃใ‚’ๅซใ‚€ๅ›บๆœ‰ใฎๅทฆๆˆฟใจใซๅˆ†ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏๅฎคใจๅ›บๆœ‰ๅทฆๆˆฟใจใฏ็‹ญใ„้–‹ๅฃ้ƒจใ‚’้€šใ˜ใฆ้€ฃ็ตกใ—ใฆใ„ใ‚‹ใ‹ใ€ๅ‰ฏๅฎคใŒๅณๆˆฟใจ็›ดๆŽฅ้€ฃ็ตกใ—ใŸใ‚Šใ€ๅˆฅใฎ็•ฐๅธธใช็ตŒ่ทฏใ‚’้€šใ˜ใฆๅทฆๆˆฟใจ้€ฃ็ตกใ™ใ‚‹ใ€‚็—…ๅž‹ๅˆ†้กžใฏLucas-Schmidtใฎใ‚‚ใฎใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Šใ€IAๅž‹๏ผˆclassic type๏ผ‰ใŒๆœ€ใ‚‚ๅคšใใ€ใคใ„ใงIB1ๅž‹ใŒๅคšใ„ใ€‚ๅค–็ง‘ๆฒป็™‚ใฏ่จบๆ–ญใŒใคใ„ใฆๅ‘ผๅธ็Šถๆ…‹ใŒๅฎ‰ๅฎšใ—ๆฌก็ฌฌ่กŒใ†ในใใงใ€้š”ๅฃใฎๅˆ‡้™คใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚ - 2200263 - + + 23 + ไธ‰ๅฟƒๆˆฟๅฟƒใฏใ€้€šๅธธใฏๅทฆๆˆฟๆ€งไธ‰ๅฟƒๆˆฟๅฟƒcor triatriatumใ‚’ๆŒ‡ใ—ใ€ๅทฆๆˆฟใŒใ€็•ฐๅธธ้š”ๅฃใซใ‚ˆใฃใฆ่‚บ้™่„ˆใฎ้‚„ๆตใ™ใ‚‹ๅ‰ฏๅฎคaccessory chamberใจๅทฆๅฟƒ่€ณใจๅƒงๆˆฟๅผๅฃใ‚’ๅซใ‚€ๅ›บๆœ‰ใฎๅทฆๆˆฟใจใซๅˆ†ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏๅฎคใจๅ›บๆœ‰ๅทฆๆˆฟใจใฏ็‹ญใ„้–‹ๅฃ้ƒจใ‚’้€šใ˜ใฆ้€ฃ็ตกใ—ใฆใ„ใ‚‹ใ‹ใ€ๅ‰ฏๅฎคใŒๅณๆˆฟใจ็›ดๆŽฅ้€ฃ็ตกใ—ใŸใ‚Šใ€ๅˆฅใฎ็•ฐๅธธใช็ตŒ่ทฏใ‚’้€šใ˜ใฆๅทฆๆˆฟใจ้€ฃ็ตกใ™ใ‚‹ใ€‚็—…ๅž‹ๅˆ†้กžใฏLucas-Schmidtใฎใ‚‚ใฎใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Šใ€IAๅž‹๏ผˆclassic type๏ผ‰ใŒๆœ€ใ‚‚ๅคšใใ€ใคใ„ใงIB1ๅž‹ใŒๅคšใ„ใ€‚ๅค–็ง‘ๆฒป็™‚ใฏ่จบๆ–ญใŒใคใ„ใฆๅ‘ผๅธ็Šถๆ…‹ใŒๅฎ‰ๅฎšใ—ๆฌก็ฌฌ่กŒใ†ในใใงใ€้š”ๅฃใฎๅˆ‡้™คใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚ + NANDO:2200263 + Cor triatriatum + ใ•ใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚“ ไธ‰ๅฟƒๆˆฟๅฟƒ - + ไธ‰ๅฟƒๆˆฟๅฟƒ - - 73 - ่ƒŽๅ…ๆœŸใซ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ๅ‹•่„ˆ็ฎก๏ผˆๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆ้–“ใซๅญ˜ๅœจใ™ใ‚‹่ก€็ฎก๏ผ‰ใŒใ€ๅ‡บ็”ŸๅพŒใ‚‚่‡ช็„ถ้–‰้Ž–ใ›ใš้–‹ๅญ˜็Šถๆ…‹ใ‚’็ถญๆŒใ—ใŸ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ็Ÿญ็ตกใŒ็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตก้‡ใฏ็ฎกใฎๅคงใใ•ใซใ‚ˆใ‚Šใ€ๅคงใใ„ใจๅทฆๅฟƒ็ณปใฎๅฎน้‡่ฒ ่ทใซใชใ‚‹ใ€‚็ดฐใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒๅฟƒไธๅ…จใ‚’่ตทใ“ใ™ใ“ใจใฏใชใ„ใŒใ€็ดฐ่Œๆ€งๅฟƒๅ†…่†œ็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บใฏใ‚ใ‚‹ใ€‚ๅคชใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸใซๅฟƒไธๅ…จใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใพใŸ่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏ็‚Žใชใฉใ‚‚ๅคšใ„ใ€‚4-5ๆญณไปฅๅพŒใซใฏๆฌก็ฌฌใซEisenmengerๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฎ็ตŒ้Žใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้–‰้Ž–ๆ “(Amplatzer Duct Occluder)ใ‚’็”จใ„ใŸใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปๆตใงใ‚ใ‚‹ใ€‚ - 2200264 - + + 73 + ่ƒŽๅ…ๆœŸใซ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ๅ‹•่„ˆ็ฎก๏ผˆๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆ้–“ใซๅญ˜ๅœจใ™ใ‚‹่ก€็ฎก๏ผ‰ใŒใ€ๅ‡บ็”ŸๅพŒใ‚‚่‡ช็„ถ้–‰้Ž–ใ›ใš้–‹ๅญ˜็Šถๆ…‹ใ‚’็ถญๆŒใ—ใŸ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ็Ÿญ็ตกใŒ็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตก้‡ใฏ็ฎกใฎๅคงใใ•ใซใ‚ˆใ‚Šใ€ๅคงใใ„ใจๅทฆๅฟƒ็ณปใฎๅฎน้‡่ฒ ่ทใซใชใ‚‹ใ€‚็ดฐใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒๅฟƒไธๅ…จใ‚’่ตทใ“ใ™ใ“ใจใฏใชใ„ใŒใ€็ดฐ่Œๆ€งๅฟƒๅ†…่†œ็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บใฏใ‚ใ‚‹ใ€‚ๅคชใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸใซๅฟƒไธๅ…จใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใพใŸ่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏ็‚Žใชใฉใ‚‚ๅคšใ„ใ€‚4-5ๆญณไปฅๅพŒใซใฏๆฌก็ฌฌใซEisenmengerๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฎ็ตŒ้Žใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้–‰้Ž–ๆ “(Amplatzer Duct Occluder)ใ‚’็”จใ„ใŸใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปๆตใงใ‚ใ‚‹ใ€‚ + NANDO:2200264 + Patent ductus arteriosus + ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ‹ใ„ใžใ‚“ใ—ใ‚‡ใ† ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ - + ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ - - 49 - ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใ€ๅณๅฟƒๆˆฟใจๅทฆๅฟƒๆˆฟใฎ้–“ใซ้š”ๅฃใŒๅญ˜ๅœจใ—ใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็™บ็”Ÿๆฎต้šŽใงๅฟƒๆˆฟไธญ้š”ใฎๅฝขๆˆใŒใงใใชใ‹ใฃใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฎ่‘—ใ—ใ„ๅข—ๅŠ ใ‹ใ‚‰ใ€ๅฟƒไธๅ…จ็—‡็ŠถใŒๅนผๅ…ๆœŸใซใ€ใ‚ˆใ‚Š้‡็—‡ใซๅ‡บ็พใ—ใฆใใ‚‹ใ€‚็—‡็ŠถใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ไพ‹ใฏใ€ๆ—ฉๆœŸใซใƒ‘ใƒƒใƒ็ธซ็€ใซใ‚ˆใ‚‹ๅฟƒๆˆฟไธญ้š”ๅฝขๆˆ่ก“ใ‚’่กŒใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 2200265 - + + 49 + ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใ€ๅณๅฟƒๆˆฟใจๅทฆๅฟƒๆˆฟใฎ้–“ใซ้š”ๅฃใŒๅญ˜ๅœจใ—ใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็™บ็”Ÿๆฎต้šŽใงๅฟƒๆˆฟไธญ้š”ใฎๅฝขๆˆใŒใงใใชใ‹ใฃใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฎ่‘—ใ—ใ„ๅข—ๅŠ ใ‹ใ‚‰ใ€ๅฟƒไธๅ…จ็—‡็ŠถใŒๅนผๅ…ๆœŸใซใ€ใ‚ˆใ‚Š้‡็—‡ใซๅ‡บ็พใ—ใฆใใ‚‹ใ€‚็—‡็ŠถใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ไพ‹ใฏใ€ๆ—ฉๆœŸใซใƒ‘ใƒƒใƒ็ธซ็€ใซใ‚ˆใ‚‹ๅฟƒๆˆฟไธญ้š”ๅฝขๆˆ่ก“ใ‚’่กŒใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:2200265 + Common atrium + ใŸใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚‡ใ† ๅ˜ๅฟƒๆˆฟ็—‡ - + ๅ˜ๅฟƒๆˆฟ็—‡ - - 50 - ๅฟƒๆˆฟไธญ้š”ใฎๆฌ ๆใ‚’่ชใ‚ใ‚‹ใ€‚ๆฌ ๆใฏๅฟƒๆˆฟไธญ้š”ๅตๅ††็ชฉใ‚’ๅฐ‘ใชใใจใ‚‚ไธ€้ƒจๅซใ‚“ใงใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐๅ…ๆœŸใฏ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅฟƒ้›‘้Ÿณใ‚„ๅฟƒ้›ปๅ›ณ็•ฐๅธธใชใฉใงๅฅ่จบๆ™‚ใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ—ใ‹ใ—ๅŠ ้ฝขใจใจใ‚‚ใซๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ‚„่‚บ้ซ˜่ก€ๅœงใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บไฝ“่ก€ๆตๆฏ”ใŒ1.5ไปฅไธŠใ‹ใ€ๅฟƒใ‚จใ‚ณใƒผใงๅณๅฎคใฎๅฎน้‡่ฒ ่ทใ‚’่ชใ‚ใ‚‹ใจใใ€ๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฏใ€ใŠใŠใ‚€ใญไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใŒๅผทใ„ใจใ€ไบˆๅพŒใŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅ‰ใซๅฟƒๆˆฟ็ดฐๅ‹•ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๆดžๆฉŸ่ƒฝไธๅ…จใ‚„ๅฟƒๆˆฟๆ€งไธๆ•ด่„ˆใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200266 - + + 50 + ๅฟƒๆˆฟไธญ้š”ใฎๆฌ ๆใ‚’่ชใ‚ใ‚‹ใ€‚ๆฌ ๆใฏๅฟƒๆˆฟไธญ้š”ๅตๅ††็ชฉใ‚’ๅฐ‘ใชใใจใ‚‚ไธ€้ƒจๅซใ‚“ใงใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐๅ…ๆœŸใฏ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅฟƒ้›‘้Ÿณใ‚„ๅฟƒ้›ปๅ›ณ็•ฐๅธธใชใฉใงๅฅ่จบๆ™‚ใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ—ใ‹ใ—ๅŠ ้ฝขใจใจใ‚‚ใซๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ‚„่‚บ้ซ˜่ก€ๅœงใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บไฝ“่ก€ๆตๆฏ”ใŒ1.5ไปฅไธŠใ‹ใ€ๅฟƒใ‚จใ‚ณใƒผใงๅณๅฎคใฎๅฎน้‡่ฒ ่ทใ‚’่ชใ‚ใ‚‹ใจใใ€ๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฏใ€ใŠใŠใ‚€ใญไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใŒๅผทใ„ใจใ€ไบˆๅพŒใŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅ‰ใซๅฟƒๆˆฟ็ดฐๅ‹•ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๆดžๆฉŸ่ƒฝไธๅ…จใ‚„ๅฟƒๆˆฟๆ€งไธๆ•ด่„ˆใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200266 + Atrial septal defect, ostium secundum type + ใซใ˜ใ“ใ†ใŒใŸใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ - + + ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ - - 48 - ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฏๅทฆๅณๅฟƒๆˆฟใ‚’้š”ใฆใฆใ„ใ‚‹ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ‚’่จ€ใ†ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฎใ†ใกใ€ๅตๅ††็ชฉใ‚’ๅซใพใชใ„ๆฌ ๆใงใ€ไธŠๅคง้™่„ˆใ‹ไธ‹ๅคง้™่„ˆใซ่ฟ‘ใ„้ƒจไฝใฎๆฌ ๆใ€‚้™่„ˆๆดžๅž‹ใฏไธŠๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธŠไฝๆฌ ๆๅž‹ใ€ไธ‹ๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธ‹ๅคง้™่„ˆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ’๏ผš๏ผ‘ใงๅฅณๆ€งใซๅคšใใ€ๅฐๅ…ๆœŸใ‚„่‹ฅๅนดๆˆไบบใงใฏๆฏ”่ผƒ็š„ไบˆๅพŒใฎ่‰ฏใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใ€็‰นใซๅณ่‚บ้™่„ˆใŒๅณๅฟƒๆˆฟใซ้‚„ๆตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎๅ ดๅˆใซใฏๆ‰‹่ก“ใŒ้›ฃใ—ใใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200267 - + + 48 + ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฏๅทฆๅณๅฟƒๆˆฟใ‚’้š”ใฆใฆใ„ใ‚‹ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ‚’่จ€ใ†ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฎใ†ใกใ€ๅตๅ††็ชฉใ‚’ๅซใพใชใ„ๆฌ ๆใงใ€ไธŠๅคง้™่„ˆใ‹ไธ‹ๅคง้™่„ˆใซ่ฟ‘ใ„้ƒจไฝใฎๆฌ ๆใ€‚้™่„ˆๆดžๅž‹ใฏไธŠๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธŠไฝๆฌ ๆๅž‹ใ€ไธ‹ๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธ‹ๅคง้™่„ˆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ’๏ผš๏ผ‘ใงๅฅณๆ€งใซๅคšใใ€ๅฐๅ…ๆœŸใ‚„่‹ฅๅนดๆˆไบบใงใฏๆฏ”่ผƒ็š„ไบˆๅพŒใฎ่‰ฏใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใ€็‰นใซๅณ่‚บ้™่„ˆใŒๅณๅฟƒๆˆฟใซ้‚„ๆตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎๅ ดๅˆใซใฏๆ‰‹่ก“ใŒ้›ฃใ—ใใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200267 + Atrial septal defect, sinus venosus type + ใ˜ใ‚‡ใ†ใฟใ‚ƒใใฉใ†ใŒใŸใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ - + ้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ - - 51 - ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใฏๅฎŒๅ…จๅž‹ใจไธๅฎŒๅ…จๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใงใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใใ€ไธ‰ๅฐ–ๅผใจๅƒงๅธฝๅผใฏใŠใฎใŠใฎ็‹ฌ็ซ‹ใ—ใฆๅฝขๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ใฎ๏ผ‘ๆฌกไธญ้š”ใฎๆฌ ๆใŒใ‚ใ‚‹ใ€‚ๅƒงๅธฝๅผใซ่ฃ‚้š™cleftใ‚’่ชใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅŸบๆœฌ็š„ใซใฏๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใจๅŒๆง˜ใง,ใ€€ๅฟƒๆˆฟใงใฎๅทฆๅณ็Ÿญ็ตกใซใ‚ˆใ‚‹ๅณๅฎคๅฎน้‡่ฒ ่ทใจ่‚บ่ก€ๆตๅข—ๅŠ ใ‚’็คบใ™ใ€‚ๅŠ ้ฝขใซใ‚ˆใ‚Šๅฟƒๆˆฟ้–“ใฎๅทฆๅณ็Ÿญ็ตกใซๅŠ ใˆใ€ๆˆฟๅฎคๅผ้€†ๆตใ€็‰นใซๅƒงๅธฝๅผ้€†ๆตใฎๅข—ๆ‚ชใซใ‚ˆใ‚Šๅฟƒไธๅ…จ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ใฏๅฟƒไธๅ…จใฎ้€ฒ่กŒใŒใชใ‘ใ‚Œใฐ,ๅฐๅ…ๆœŸใพใงใซใƒ‘ใƒƒใƒใซใ‚ˆใ‚‹ไธ€ๆฌกๅฃ้–‰้Ž–ใจcleftใฎไฟฎๅพฉใ‚’่กŒใ†ใ€‚ - 2200268 - + + 51 + ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใฏๅฎŒๅ…จๅž‹ใจไธๅฎŒๅ…จๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใงใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใใ€ไธ‰ๅฐ–ๅผใจๅƒงๅธฝๅผใฏใŠใฎใŠใฎ็‹ฌ็ซ‹ใ—ใฆๅฝขๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ใฎ๏ผ‘ๆฌกไธญ้š”ใฎๆฌ ๆใŒใ‚ใ‚‹ใ€‚ๅƒงๅธฝๅผใซ่ฃ‚้š™cleftใ‚’่ชใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅŸบๆœฌ็š„ใซใฏๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใจๅŒๆง˜ใง,ใ€€ๅฟƒๆˆฟใงใฎๅทฆๅณ็Ÿญ็ตกใซใ‚ˆใ‚‹ๅณๅฎคๅฎน้‡่ฒ ่ทใจ่‚บ่ก€ๆตๅข—ๅŠ ใ‚’็คบใ™ใ€‚ๅŠ ้ฝขใซใ‚ˆใ‚Šๅฟƒๆˆฟ้–“ใฎๅทฆๅณ็Ÿญ็ตกใซๅŠ ใˆใ€ๆˆฟๅฎคๅผ้€†ๆตใ€็‰นใซๅƒงๅธฝๅผ้€†ๆตใฎๅข—ๆ‚ชใซใ‚ˆใ‚Šๅฟƒไธๅ…จ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ใฏๅฟƒไธๅ…จใฎ้€ฒ่กŒใŒใชใ‘ใ‚Œใฐ,ๅฐๅ…ๆœŸใพใงใซใƒ‘ใƒƒใƒใซใ‚ˆใ‚‹ไธ€ๆฌกๅฃ้–‰้Ž–ใจcleftใฎไฟฎๅพฉใ‚’่กŒใ†ใ€‚ + NANDO:2200268 + Incomplete atrioventricular septal defect + ใตใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ - + ไธๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡ + ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ - - 7 - ่ƒŽ็”ŸๆœŸใฎๅฟƒๅ†…่†œๅบŠๅฝขๆˆ็™’ๅˆไธๅ…จใซใ‚ˆใ‚Šๅฟƒๆˆฟไธญ้š”ไธ€ๆฌกๅญ”ๆฌ ๆใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ„ใ€ๅ…ฑ้€šๆˆฟๅฎคๅผๅฃใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅ…ฑ้€šๅ‰ๅฐ–ใฎๅฝขๆ…‹ใซใ‚ˆใ‚Šใ€A, B, Cใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œ(Rastelliๅˆ†้กž)ใ€Aๅž‹ใงใฏๅ…ฑ้€šๅ‰ๅฐ–ใŒๅณๅฎคๅดใซๅ…ฅใ‚‰ใšใ€่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใ‚„ๅ††้Œ้ƒจไนณ้ ญ็ญ‹ใซ็ตๅˆใ€Bๅž‹ใฏ่…ฑ็ดขใŒๅณๅฎคๅฟƒๅฐ–้ƒจใฎไนณ้ ญ็ญ‹ใจ็ตๅˆใ€Cๅž‹ใฏๅ…ฑ้€šๅ‰ๅฐ–ใฎ่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใจ็ตๅˆใ›ใšใ€ๅณๅฎคไนณ้ ญ็ญ‹ใซ็ตๅˆใ™ใ‚‹(free-floating)ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏๅฟƒๆˆฟไฝใจๅฟƒๅฎคไฝใซใŠใ‘ใ‚‹ๅทฆๅณ็Ÿญ็ตกใจๆˆฟๅฎคๅผใฎๅฝขๆ…‹็•ฐๅธธใซๅŸบใฅใ็จฎใ€…ใฎ็จ‹ๅบฆใฎๆˆฟๅฎคๅผ้–‰้Ž–ไธๅ…จใงใ‚ใ‚Šใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅคงใใชๅ ดๅˆใซใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšๆฑ—ใ€ๅคšๅ‘ผๅธใ€ๅ“บไนณไธ่‰ฏใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏ็ญ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใซtwo-patchๆณ•ใพใŸใฏone-patchๆณ•ใซใ‚ˆใ‚‹ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚ - 2200269 - + + 7 + ่ƒŽ็”ŸๆœŸใฎๅฟƒๅ†…่†œๅบŠๅฝขๆˆ็™’ๅˆไธๅ…จใซใ‚ˆใ‚Šๅฟƒๆˆฟไธญ้š”ไธ€ๆฌกๅญ”ๆฌ ๆใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ„ใ€ๅ…ฑ้€šๆˆฟๅฎคๅผๅฃใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅ…ฑ้€šๅ‰ๅฐ–ใฎๅฝขๆ…‹ใซใ‚ˆใ‚Šใ€A, B, Cใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œ(Rastelliๅˆ†้กž)ใ€Aๅž‹ใงใฏๅ…ฑ้€šๅ‰ๅฐ–ใŒๅณๅฎคๅดใซๅ…ฅใ‚‰ใšใ€่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใ‚„ๅ††้Œ้ƒจไนณ้ ญ็ญ‹ใซ็ตๅˆใ€Bๅž‹ใฏ่…ฑ็ดขใŒๅณๅฎคๅฟƒๅฐ–้ƒจใฎไนณ้ ญ็ญ‹ใจ็ตๅˆใ€Cๅž‹ใฏๅ…ฑ้€šๅ‰ๅฐ–ใฎ่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใจ็ตๅˆใ›ใšใ€ๅณๅฎคไนณ้ ญ็ญ‹ใซ็ตๅˆใ™ใ‚‹(free-floating)ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏๅฟƒๆˆฟไฝใจๅฟƒๅฎคไฝใซใŠใ‘ใ‚‹ๅทฆๅณ็Ÿญ็ตกใจๆˆฟๅฎคๅผใฎๅฝขๆ…‹็•ฐๅธธใซๅŸบใฅใ็จฎใ€…ใฎ็จ‹ๅบฆใฎๆˆฟๅฎคๅผ้–‰้Ž–ไธๅ…จใงใ‚ใ‚Šใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅคงใใชๅ ดๅˆใซใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšๆฑ—ใ€ๅคšๅ‘ผๅธใ€ๅ“บไนณไธ่‰ฏใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏ็ญ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใซtwo-patchๆณ•ใพใŸใฏone-patchๆณ•ใซใ‚ˆใ‚‹ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚ + NANDO:2200269 + Complete atrioventricular septal defect + ใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ - + ๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡ ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ - - 31 - ๅทฆๅณใฎๅฟƒๅฎคใฎ้–“ใฎๅฃใงใ‚ใ‚‹ๅฟƒๅฎคไธญ้š”ใซๅญ”ใฎใ‚ใ„ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฏ่†œๆง˜้ƒจไธญ้š”ใจ็ญ‹ๆ€ง้ƒจไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€็ญ‹ๆ€ง้ƒจไธญ้š”ใฏๆ›ดใซๆตๅ…ฅ่ทฏไธญ้š”ใ€่‚‰ๆŸฑ้ƒจไธญ้š”ใ€ใŠใ‚ˆใณๆตๅ‡บ่ทฏ๏ผˆๆผๆ–—้ƒจ๏ผ‰ไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้ƒจไฝใซๆฌ ๆๅญ”ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆฌ ๆๅญ”ใฎๅคงใใ•ใ€ไฝ็ฝฎใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆ–น้‡ใŒ็•ฐใชใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใฎๅˆไฝตใŒใชใใ€ๅทฆๅณ็Ÿญ็ตกใŒๅฐ‘ใชใ„ไพ‹ใงใฏๅŽŸๅ‰‡ใจใ—ใฆๅค–็ง‘ๆฒป็™‚ใฎ้ฉๅฟœใฏใชใใ€ๆ„ŸๆŸ“ๆ€งๅฟƒๅ†…่†œ็‚Žใซๆณจๆ„ใ—ใชใŒใ‚‰็ตŒ้Ž่ฆณๅฏŸใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅตŒๅ…ฅ้€ธ่„ฑใ‚’ใจใ‚‚ใชใ†ไพ‹ใงใฏๅฐ็Ÿญ็ตกใงใ‚ใฃใฆใ‚‚ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅคšๅ‘ผๅธใ€ๅ“บไนณ้šœๅฎณใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๆฐ—้“ๆ„ŸๆŸ“ใฎๅๅพฉใชใฉใฎ็—‡็ŠถใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๅ†…็ง‘ๆฒป็™‚ใจๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใŸไพ‹ใงใฏ็—‡็ŠถใŒ่ปฝๅพฎใงใ‚ใฃใฆใ‚‚6ใ‚ซๆœˆไปฅๅ†…ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใŒใชใใจใ‚‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅทฆๅฎคๅฎน้‡่ฒ ่ทๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏๅฐฑๅญฆๅ‰ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ - 2200270 - + + 31 + ๅทฆๅณใฎๅฟƒๅฎคใฎ้–“ใฎๅฃใงใ‚ใ‚‹ๅฟƒๅฎคไธญ้š”ใซๅญ”ใฎใ‚ใ„ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฏ่†œๆง˜้ƒจไธญ้š”ใจ็ญ‹ๆ€ง้ƒจไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€็ญ‹ๆ€ง้ƒจไธญ้š”ใฏๆ›ดใซๆตๅ…ฅ่ทฏไธญ้š”ใ€่‚‰ๆŸฑ้ƒจไธญ้š”ใ€ใŠใ‚ˆใณๆตๅ‡บ่ทฏ๏ผˆๆผๆ–—้ƒจ๏ผ‰ไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้ƒจไฝใซๆฌ ๆๅญ”ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆฌ ๆๅญ”ใฎๅคงใใ•ใ€ไฝ็ฝฎใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆ–น้‡ใŒ็•ฐใชใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใฎๅˆไฝตใŒใชใใ€ๅทฆๅณ็Ÿญ็ตกใŒๅฐ‘ใชใ„ไพ‹ใงใฏๅŽŸๅ‰‡ใจใ—ใฆๅค–็ง‘ๆฒป็™‚ใฎ้ฉๅฟœใฏใชใใ€ๆ„ŸๆŸ“ๆ€งๅฟƒๅ†…่†œ็‚Žใซๆณจๆ„ใ—ใชใŒใ‚‰็ตŒ้Ž่ฆณๅฏŸใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅตŒๅ…ฅ้€ธ่„ฑใ‚’ใจใ‚‚ใชใ†ไพ‹ใงใฏๅฐ็Ÿญ็ตกใงใ‚ใฃใฆใ‚‚ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅคšๅ‘ผๅธใ€ๅ“บไนณ้šœๅฎณใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๆฐ—้“ๆ„ŸๆŸ“ใฎๅๅพฉใชใฉใฎ็—‡็ŠถใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๅ†…็ง‘ๆฒป็™‚ใจๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใŸไพ‹ใงใฏ็—‡็ŠถใŒ่ปฝๅพฎใงใ‚ใฃใฆใ‚‚6ใ‚ซๆœˆไปฅๅ†…ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใŒใชใใจใ‚‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅทฆๅฎคๅฎน้‡่ฒ ่ทๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏๅฐฑๅญฆๅ‰ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200270 + Ventricular septal defect + ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ - + ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ - - 77 - ใ™ในใฆใฎ่‚บ้™่„ˆใ‹ใ‚™ๅทฆๆˆฟใจไบค้€šใ‚’ๅคฑใ„,็›ดๆŽฅๅณๆˆฟใพใŸใฏไฝ“้™่„ˆใจไบค้€šใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใŒ้‚„ๆตใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ใค๏ผˆIๅž‹๏ผšไธŠๅฟƒ่‡“ๅž‹ใ€IIๅž‹๏ผšๅฟƒ่‡“ๅž‹ใ€IIIๅž‹๏ผšไธ‹ๅฟƒ่‡“ๅž‹ใ€IV๏ผšๆททๅˆๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บใ†ใฃ่ก€ใซไผดใ†้‡ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใจๅคšๅ‘ผๅธใ‚’่ชใ‚ใ€็”ŸๅพŒๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฎๅŸบๆœฌใฏๅค–็ง‘ๆฒป็™‚ใงใ€่จบๆ–ญใŒใคใๆฌก็ฌฌใ€ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใฎๆˆ็ธพใฏไธ€่ˆฌใซๅ‘ไธŠใ—ใฆใŠใ‚Šใ€ๆ—ฉๆœŸๆญปไบกใฏ2-15%ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ90%ใงใ‚ใ‚‹ใ€‚็ด„10๏ผ…ใซ่ก“ๅพŒ่‚บ้™่„ˆ็‹ญ็ช„ใŒ็”Ÿใ˜ไบˆๅพŒไธ่‰ฏใฎ่ฆๅ› ใจใชใ‚‹ใ€‚ - 2200271 - + + 77 + ใ™ในใฆใฎ่‚บ้™่„ˆใŒๅทฆๆˆฟใจไบค้€šใ‚’ๅคฑใ„,็›ดๆŽฅๅณๆˆฟใพใŸใฏไฝ“้™่„ˆใจไบค้€šใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใŒ้‚„ๆตใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ใค๏ผˆIๅž‹๏ผšไธŠๅฟƒ่‡“ๅž‹ใ€IIๅž‹๏ผšๅฟƒ่‡“ๅž‹ใ€IIIๅž‹๏ผšไธ‹ๅฟƒ่‡“ๅž‹ใ€IV๏ผšๆททๅˆๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บใ†ใฃ่ก€ใซไผดใ†้‡ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใจๅคšๅ‘ผๅธใ‚’่ชใ‚ใ€็”ŸๅพŒๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฎๅŸบๆœฌใฏๅค–็ง‘ๆฒป็™‚ใงใ€่จบๆ–ญใŒใคใๆฌก็ฌฌใ€ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใฎๆˆ็ธพใฏไธ€่ˆฌใซๅ‘ไธŠใ—ใฆใŠใ‚Šใ€ๆ—ฉๆœŸๆญปไบกใฏ2-15%ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ90%ใงใ‚ใ‚‹ใ€‚็ด„10๏ผ…ใซ่ก“ๅพŒ่‚บ้™่„ˆ็‹ญ็ช„ใŒ็”Ÿใ˜ไบˆๅพŒไธ่‰ฏใฎ่ฆๅ› ใจใชใ‚‹ใ€‚ + NANDO:2200271 + Total anomalous pulmonary venous connection + ใใ†ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ + - + + ็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ - - 78 - ้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฏ,4ๆœฌใฎ่‚บ้™่„ˆใฎใ†ใก1ใ€œ3ๆœฌใ‹ใ‚™ไฝ“้™่„ˆ็ณปใซ็•ฐๅธธ้‚„ๆตใ™ใ‚‹็–พๆ‚ฃใฆใ‚™ใ‚ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่ƒŽ็”Ÿๆ—ฉๆœŸใซๅ…ฑ้€š่‚บ้™่„ˆใฎไธ€้ƒจใŒ้–‰้Ž–ใ—ใ€ไฝ“้™่„ˆ็ณปใจไบค้€šใ‚’ๆฎ‹ใ™ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใฎๅฟƒๅ†…ไฟฎๅพฉๆ‰‹่ก“ๆ™‚ใซใ€ไธ€็ท’ใซๆฒป็™‚ใ™ใ‚‹ใ€‚ - 2200272 - + + 78 + ้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฏ,4ๆœฌใฎ่‚บ้™่„ˆใฎใ†ใก1ใ€œ3ๆœฌใŒไฝ“้™่„ˆ็ณปใซ็•ฐๅธธ้‚„ๆตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่ƒŽ็”Ÿๆ—ฉๆœŸใซๅ…ฑ้€š่‚บ้™่„ˆใฎไธ€้ƒจใŒ้–‰้Ž–ใ—ใ€ไฝ“้™่„ˆ็ณปใจไบค้€šใ‚’ๆฎ‹ใ™ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใฎๅฟƒๅ†…ไฟฎๅพฉๆ‰‹่ก“ๆ™‚ใซใ€ไธ€็ท’ใซๆฒป็™‚ใ™ใ‚‹ใ€‚ + NANDO:2200272 + Partial anomalous pulmonary venous connection + ใถใถใ‚“ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ - + ้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡ - - 79 - ่‚บ้™่„ˆใŒ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๅ ดๅˆใจใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฎ่ก“ๅพŒใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใŒใ‚ใ‚Œใฐใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใซ๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚้–‰้Ž–ใ—ใฆใ„ใ‚Œใฐใ€็”ŸๅพŒใฏ็”Ÿๅญ˜ใงใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚ - 2200273 - + + 79 + ่‚บ้™่„ˆใŒ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๅ ดๅˆใจใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฎ่ก“ๅพŒใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใŒใ‚ใ‚Œใฐใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใซ๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚้–‰้Ž–ใ—ใฆใ„ใ‚Œใฐใ€็”ŸๅพŒใฏ็”Ÿๅญ˜ใงใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚ + NANDO:2200273 + Pulmonary venous obstruction + ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ่‚บ้™่„ˆ็‹ญ็ช„็—‡ - + + ่‚บ้™่„ˆ็‹ญ็ช„็—‡ - - 21 - ๆฌ ๆๅญ”ใฎ้ƒจไฝใซใ‚ˆใ‚Šไปฅไธ‹ใฎ2็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅผไธŠๅž‹ใงใฏ๏ผŒ ไธ‰ๅฐ–ๅผไธญ้š”ๅฐ–ไป˜็€้ƒจใฎ่†œๆง˜้ƒจไธญ้š”ใ‚ˆใ‚ŠไธŠไฝใซๆฌ ๆใ‚’ๆœ‰ใ—๏ผŒ ๅทฆๅฎคใ‹ใ‚‰็›ดๆŽฅๅณๆˆฟใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒ ๅผไธ‹ๅž‹ใงใฏ๏ผŒ ๆฌ ๆๅญ”ใŒไธญ้š”ๅฐ–ใ‚ˆใ‚Šไธ‹้ƒจใฎๅฟƒๅฎค้–“่†œๆง˜้ƒจไธญ้š”ใซ็”Ÿใ˜ใ‚‹ใ€‚ - 2200274 - + + 21 + ๆฌ ๆๅญ”ใฎ้ƒจไฝใซใ‚ˆใ‚Šไปฅไธ‹ใฎ2็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅผไธŠๅž‹ใงใฏ๏ผŒ ไธ‰ๅฐ–ๅผไธญ้š”ๅฐ–ไป˜็€้ƒจใฎ่†œๆง˜้ƒจไธญ้š”ใ‚ˆใ‚ŠไธŠไฝใซๆฌ ๆใ‚’ๆœ‰ใ—๏ผŒ ๅทฆๅฎคใ‹ใ‚‰็›ดๆŽฅๅณๆˆฟใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒ ๅผไธ‹ๅž‹ใงใฏ๏ผŒ ๆฌ ๆๅญ”ใŒไธญ้š”ๅฐ–ใ‚ˆใ‚Šไธ‹้ƒจใฎๅฟƒๅฎค้–“่†œๆง˜้ƒจไธญ้š”ใซ็”Ÿใ˜ใ‚‹ใ€‚ + NANDO:2200274 + Left ventricular-right atrial communication + ใ•ใ—ใคใ†ใผใ†ใ“ใ†ใคใ†ใ—ใ‚‡ใ† ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡ - + ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡ - - 2 - ๅณๅฎคใฎๆผๆ–—้ƒจใฎ็‹ญ็ช„ใงใฏใชใ๏ผŒ ๆผๆ–—้ƒจใ‚ˆใ‚Šใ‚‚่ฟ‘ไฝๅดใฎๅณๅฎค่‚‰ๆŸฑ้ƒจใฎ่‚‰ๆŸฑใŒ็•ฐๅธธใซ้ซ˜ใ๏ผŒ ใ‹ใคๅคชใใชใ‚Š๏ผŒ ๅณๅฎคๅ†…ใซ็‹ญ็ช„ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚่ด่จบใงใฏ่ƒธ้ชจๅทฆ็ธใซ่กจๅœจ็š„ใซ็ฒ—ใ้•ทใ„ๅŽ็ธฎๆœŸ้›‘้Ÿณใ‚’ใใ. ๅณๅฎคๅ†…ใฎๅœงๅทฎใŒ30๏ฝž50mmHgไปฅไธŠใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹. - 2200275 - + + 2 + ๅณๅฎคใฎๆผๆ–—้ƒจใฎ็‹ญ็ช„ใงใฏใชใ๏ผŒ ๆผๆ–—้ƒจใ‚ˆใ‚Šใ‚‚่ฟ‘ไฝๅดใฎๅณๅฎค่‚‰ๆŸฑ้ƒจใฎ่‚‰ๆŸฑใŒ็•ฐๅธธใซ้ซ˜ใ๏ผŒ ใ‹ใคๅคชใใชใ‚Š๏ผŒ ๅณๅฎคๅ†…ใซ็‹ญ็ช„ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚่ด่จบใงใฏ่ƒธ้ชจๅทฆ็ธใซ่กจๅœจ็š„ใซ็ฒ—ใ้•ทใ„ๅŽ็ธฎๆœŸ้›‘้Ÿณใ‚’ใใ. ๅณๅฎคๅ†…ใฎๅœงๅทฎใŒ30๏ฝž50mmHgไปฅไธŠใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹. + NANDO:2200275 + Double-chambered right ventricle + ใ†ใ—ใคใซใใ†ใ—ใ‚‡ใ† ๅณๅฎคไบŒ่…”็—‡ + - + + ๅณๅฎคไบŒ่…”็—‡ - - 86 - ่‚บๅ‹•่„ˆๅผไธ‹๏ผˆๅณๅฎคๆผๆ–—้ƒจ๏ผ‰ใฎ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅณๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅณๅฎคไป•ไบ‹้‡ใŒๅข—ๅคงใ™ใ‚‹ใ€‚ไป–ใซๅฟƒๅฅ‡ๅฝขใŒ็„กใใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒ่‡ช็„ถ้–‰้Ž–ใ—ใŸๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็—‡ไพ‹ใงใฏๅค–็ง‘ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ใƒใƒซใƒผใƒณๆ‹กๅคง่ก“ใฏ็„กๅŠนใงใ‚ใ‚‹ใ€‚ - 2200276 - + + 86 + ่‚บๅ‹•่„ˆๅผไธ‹๏ผˆๅณๅฎคๆผๆ–—้ƒจ๏ผ‰ใฎ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅณๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅณๅฎคไป•ไบ‹้‡ใŒๅข—ๅคงใ™ใ‚‹ใ€‚ไป–ใซๅฟƒๅฅ‡ๅฝขใŒ็„กใใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒ่‡ช็„ถ้–‰้Ž–ใ—ใŸๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็—‡ไพ‹ใงใฏๅค–็ง‘ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ใƒใƒซใƒผใƒณๆ‹กๅคง่ก“ใฏ็„กๅŠนใงใ‚ใ‚‹ใ€‚ + NANDO:2200276 + Subvalvular pulmonary stenosis + ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - + + ่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - - 64 - ๅคงๅ‹•่„ˆๅผไธ‹ใฎ่†œๆง˜ใพใŸใฏ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅทฆๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅทฆๅฎคไป•ไบ‹้‡ใฏๅข—ๅคงใ™ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๆˆฟๅฎคไธญ้š”ๆฌ ๆใชใฉใซๅˆไฝตใ™ใ‚‹ใ€‚50mmHgไปฅไธŠใฎๅœงๅทฎใŒใ‚ใ‚‹ใจใใซๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ - 2200277 - + + 64 + ๅคงๅ‹•่„ˆๅผไธ‹ใฎ่†œๆง˜ใพใŸใฏ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅทฆๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅทฆๅฎคไป•ไบ‹้‡ใฏๅข—ๅคงใ™ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๆˆฟๅฎคไธญ้š”ๆฌ ๆใชใฉใซๅˆไฝตใ™ใ‚‹ใ€‚50mmHgไปฅไธŠใฎๅœงๅทฎใŒใ‚ใ‚‹ใจใใซๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ + NANDO:2200277 + Subvalvular aortic stenosis + ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - + ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡ - - 80 - ่‚บๅ‹•่„ˆใฎๅผไธŠใ‚‚ใ—ใใฏๆœซๆขขใซใ‹ใ‘ใฆ็‹ญ็ช„ใ€‚ๅทฆๅณๅฟƒๅฎค้–“ใฎไบค้€šใ‚’ไผดใ‚ใชใ„ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ - 2200278 - + + 80 + ่‚บๅ‹•่„ˆใฎๅผไธŠใ‚‚ใ—ใใฏๆœซๆขขใซใ‹ใ‘ใฆ็‹ญ็ช„ใ€‚ๅทฆๅณๅฟƒๅฎค้–“ใฎไบค้€šใ‚’ไผดใ‚ใชใ„ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200278 + Supravalvular pulmonary stenosis + ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡ - + ่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡ - - 81 - ไธป่‚บๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅณ่‚บๅ‹•่„ˆ,ใ•ใ‚‰ใซๆœซๆขขใฆใ‚™ใฎ่ก€็ฎกๆ€ง็‹ญ็ช„ใฆใ‚™ใ‚ใ‚‹ใ€‚็จฎใ€…ใฎ้ƒจไฝใฆใ‚™็‹ญ็ช„ใจใชใ‚Š,ๅ˜็‹ฌใฎ็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ‹ใ‚™,ๅคšใใฏๅคš็™บๆ€งใฆใ‚™ใ‚ใ‚‹ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ - 2200279 - + + 81 + ไธป่‚บๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅณ่‚บๅ‹•่„ˆ,ใ•ใ‚‰ใซๆœซๆขขใงใฎ่ก€็ฎกๆ€ง็‹ญ็ช„ใงใ‚ใ‚‹ใ€‚็จฎใ€…ใฎ้ƒจไฝใง็‹ญ็ช„ใจใชใ‚Š,ๅ˜็‹ฌใฎ็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใŒ,ๅคšใใฏๅคš็™บๆ€งใงใ‚ใ‚‹ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200279 + Peripheral pulmonary stenosis + ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡ - - + ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡ - - 87 - ๅ…ˆๅคฉ็š„ใซ่‚บๅ‹•่„ˆๅผใŒๆฌ ๆใ—ใ€่‚บๅ‹•่„ˆๅผ่ผช็‹ญ็ช„ใ€่‚บๅ‹•่„ˆๆ‹กๅคงใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๆฐ—็ฎกๅœง่ฟซใ€ๆฐ—็ฎกไฝŽๅฝขๆˆใ‚’ใจใ‚‚ใชใ†ใ“ใจใŒๅคšใ„ใ€‚ๅผๆฌ ๆใฎใ‚ฟใ‚คใƒ—ใจใ—ใฆใ€1)complete type๏ผˆๅผ็ต„็น”ใฎๅฎŒๅ…จๆฌ ๆ๏ผ‰ใ€2)ridge type๏ผˆๅผใŒ็ต็ฏ€็Šถใซๅผ่ผช็›ดไธŠใงridgeใ‚’ๅฝขๆˆ๏ผ‰ใ€3)partial absence๏ผˆๅผใŒไธ€ๅผๅฐ–ใชใ„ใ—ไบŒๅผๅฐ–ๅฝขๆˆใ•ใ‚Œใ€ๆฎ‹ใ‚ŠใŒๆฌ ๆ๏ผ‰ใ‚’ๅซใ‚€ใ€‚ๅคง้ƒจๅˆ†ใฏFallotๅ››ๅพด็—‡ใซๅˆไฝตใ—ใ€ใใฎไป–ใฎๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200280 - + + 87 + ๅ…ˆๅคฉ็š„ใซ่‚บๅ‹•่„ˆๅผใŒๆฌ ๆใ—ใ€่‚บๅ‹•่„ˆๅผ่ผช็‹ญ็ช„ใ€่‚บๅ‹•่„ˆๆ‹กๅคงใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๆฐ—็ฎกๅœง่ฟซใ€ๆฐ—็ฎกไฝŽๅฝขๆˆใ‚’ใจใ‚‚ใชใ†ใ“ใจใŒๅคšใ„ใ€‚ๅผๆฌ ๆใฎใ‚ฟใ‚คใƒ—ใจใ—ใฆใ€1)complete type๏ผˆๅผ็ต„็น”ใฎๅฎŒๅ…จๆฌ ๆ๏ผ‰ใ€2)ridge type๏ผˆๅผใŒ็ต็ฏ€็Šถใซๅผ่ผช็›ดไธŠใงridgeใ‚’ๅฝขๆˆ๏ผ‰ใ€3)partial absence๏ผˆๅผใŒไธ€ๅผๅฐ–ใชใ„ใ—ไบŒๅผๅฐ–ๅฝขๆˆใ•ใ‚Œใ€ๆฎ‹ใ‚ŠใŒๆฌ ๆ๏ผ‰ใ‚’ๅซใ‚€ใ€‚ๅคง้ƒจๅˆ†ใฏFallotๅ››ๅพด็—‡ใซๅˆไฝตใ—ใ€ใใฎไป–ใฎๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200280 + Absent pulmonary valve + ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‘ใฃใใ‚“ ่‚บๅ‹•่„ˆๅผๆฌ ๆ - + ่‚บๅ‹•่„ˆๅผๆฌ ๆ - - 82 - ๏ผˆ้€šๅธธใฎๅทฆๅดๅคงๅ‹•่„ˆๅผ“ใซใŠใ„ใฆ๏ผ‰่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅทฆใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅณ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅณ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ใพใŸใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“ใฎๅ ดๅˆใ€่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅณใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅทฆ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅทฆ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆญฃๅธธๅดใ‚‚่‚บ้ซ˜่ก€ๅœงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ€ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่กŒใ„ใ€ใงใใ‚‹้™ใ‚Šๆ—ฉๆœŸใซไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹่‚บๅ‹•่„ˆใ‚’ๅˆ‡ใ‚Š้›ขใ—ใฆไธป่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ - 2200281 - + + 82 + ๏ผˆ้€šๅธธใฎๅทฆๅดๅคงๅ‹•่„ˆๅผ“ใซใŠใ„ใฆ๏ผ‰่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅทฆใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅณ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅณ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ใพใŸใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“ใฎๅ ดๅˆใ€่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅณใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅทฆ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅทฆ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆญฃๅธธๅดใ‚‚่‚บ้ซ˜่ก€ๅœงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ€ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่กŒใ„ใ€ใงใใ‚‹้™ใ‚Šๆ—ฉๆœŸใซไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹่‚บๅ‹•่„ˆใ‚’ๅˆ‡ใ‚Š้›ขใ—ใฆไธป่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ + NANDO:2200281 + Origin of pulmonary artery from ascending aorta + ใฏใ„ใฉใ†ใฟใ‚ƒใใ˜ใ‚‡ใ†ใ“ใ†ใ ใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡ - + + ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡ - - 1 - ๅณๅฎคใ‹ใ‚‰ไธป่‚บๅ‹•่„ˆใ‚’็ตŒใฆใ€็‰‡ๅดใฎ่‚บๅ‹•่„ˆใซใฎใฟใคใชใŒใ‚Šใ€ๅๅฏพๅดใฎ่‚บๅ‹•่„ˆใŒ่‡จๅบŠ็š„ใซ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚่‚บๅ‹•่„ˆๅˆ†ๆž้ƒจใŒๆฌ ๆใ™ใ‚‹ใŒใ€่‚บ้–€้ƒจใ‹ใ‚‰ๆœซๆขขใฏๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใงใใ‚Œใฐใ€ๆ‚ฃๅด่‚บๅ‹•่„ˆใซ็Ÿญ็ตก่ก“ใ‚’ๆ–ฝ่กŒใ—ใ€่‚บๅ‹•่„ˆใŒๆˆ้•ทใ™ใ‚Œใฐใ€ไธป่‚บๅ‹•่„ˆใจๆฌ ๆๅดใฎ่‚บๅ‹•่„ˆใ‚’ใคใชใๆ‰‹่ก“ใ‚’ๆคœ่จŽใ™ใ‚‹ใ€‚ - 2200282 - + + 1 + ๅณๅฎคใ‹ใ‚‰ไธป่‚บๅ‹•่„ˆใ‚’็ตŒใฆใ€็‰‡ๅดใฎ่‚บๅ‹•่„ˆใซใฎใฟใคใชใŒใ‚Šใ€ๅๅฏพๅดใฎ่‚บๅ‹•่„ˆใŒ่‡จๅบŠ็š„ใซ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚่‚บๅ‹•่„ˆๅˆ†ๆž้ƒจใŒๆฌ ๆใ™ใ‚‹ใŒใ€่‚บ้–€้ƒจใ‹ใ‚‰ๆœซๆขขใฏๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใงใใ‚Œใฐใ€ๆ‚ฃๅด่‚บๅ‹•่„ˆใซ็Ÿญ็ตก่ก“ใ‚’ๆ–ฝ่กŒใ—ใ€่‚บๅ‹•่„ˆใŒๆˆ้•ทใ™ใ‚Œใฐใ€ไธป่‚บๅ‹•่„ˆใจๆฌ ๆๅดใฎ่‚บๅ‹•่„ˆใ‚’ใคใชใๆ‰‹่ก“ใ‚’ๆคœ่จŽใ™ใ‚‹ใ€‚ + NANDO:2200282 + Unilateral absence of a pulmonary artery + ใ„ใฃใใใฏใ„ใฉใ†ใฟใ‚ƒใใ‘ใฃใใ‚“ ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ - + + ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ - - 59 - ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไธŠๅŠ่บซใฏ้ซ˜่ก€ๅœงใจใชใ‚Šใ€่„ณๅ‡บ่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200283 - + + 59 + ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไธŠๅŠ่บซใฏ้ซ˜่ก€ๅœงใจใชใ‚Šใ€่„ณๅ‡บ่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200283 + Coarctation of the aorta + ใ ใ„ใฉใ†ใฟใ‚ƒใใ—ใ‚…ใใ•ใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ + - + ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ - - 60 - ๅคงๅ‹•่„ˆ็ธฎ็ช„ใฏๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใŸ็‹ญ็ช„ใ€‚ๅคงๅ‹•่„ˆๅณก้ƒจใฎไฝŽๅฝขๆˆใ‚‚ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็”ŸๅพŒใพใ‚‚ใชใใฏๅ‹•่„ˆ็ฎกใŒ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŒใ€้–‰้Ž–ใ™ใ‚‹ใจใ€ใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใชใ‚‹ใ€‚่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ซ˜ๅบฆใฎๅฟƒไธๅ…จใจใชใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ใŒๅฟ…่ฆใช้‡็—‡ๅฟƒ็–พๆ‚ฃใ€‚ - 2200284 - + + 60 + ๅคงๅ‹•่„ˆ็ธฎ็ช„ใฏๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใŸ็‹ญ็ช„ใ€‚ๅคงๅ‹•่„ˆๅณก้ƒจใฎไฝŽๅฝขๆˆใ‚‚ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็”ŸๅพŒใพใ‚‚ใชใใฏๅ‹•่„ˆ็ฎกใŒ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŒใ€้–‰้Ž–ใ™ใ‚‹ใจใ€ใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใชใ‚‹ใ€‚่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ซ˜ๅบฆใฎๅฟƒไธๅ…จใจใชใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ใŒๅฟ…่ฆใช้‡็—‡ๅฟƒ็–พๆ‚ฃใ€‚ + NANDO:2200284 + Coarctation complex + ใ ใ„ใฉใ†ใฟใ‚ƒใใ—ใ‚…ใใ•ใใตใใ”ใ† ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ + + - + + ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ - - 61 - ๅคงๅ‹•่„ˆๅผไธŠใ€Valsalvaๆดžใ‚ˆใ‚Š้ ไฝใŒ้™ๅฑ€ๆ€งใซ็‹ญ็ช„ใ—ใŸ็—…ๆ…‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆใฎไฝŽๅฝขๆˆใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚Williams็—‡ๅ€™็พคใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ€ๅฎถๆ—ๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ๅ‰ๅพŒใฎๅœง่ผƒๅทฎใŒ50mmHgไปฅไธŠใฎ็—‡ไพ‹ใฏๆ‰‹่ก“้ฉๅฟœใจใชใ‚‹ใ€‚ - 2200285 - + + 61 + ๅคงๅ‹•่„ˆๅผไธŠใ€Valsalvaๆดžใ‚ˆใ‚Š้ ไฝใŒ้™ๅฑ€ๆ€งใซ็‹ญ็ช„ใ—ใŸ็—…ๆ…‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆใฎไฝŽๅฝขๆˆใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚Williams็—‡ๅ€™็พคใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ€ๅฎถๆ—ๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ๅ‰ๅพŒใฎๅœง่ผƒๅทฎใŒ50mmHgไปฅไธŠใฎ็—‡ไพ‹ใฏๆ‰‹่ก“้ฉๅฟœใจใชใ‚‹ใ€‚ + NANDO:2200285 + Supravalvular aortic stenosis + ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡ - + ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡ - - 58 - ็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰น็•ฐใชๆ€งๆ ผใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใŠใ‚ˆใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒ๏ผŒ้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹๏ผŽใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—๏ผŒ็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„๏ผŒ็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใ€‚ - 2200286 - + + 58 + ็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰น็•ฐใชๆ€งๆ ผใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใŠใ‚ˆใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒ๏ผŒ้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹๏ผŽใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—๏ผŒ็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„๏ผŒ็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใ€‚ + NANDO:2200286 + Williams syndrome + ใ†ใƒใ‚Šใ‚ใ‚€ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค + - - + Williams็—‡ๅ€™็พค ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค - - 62 - ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใจใ‚ˆใถใŒใ€ใใ‚Œไปฅๅค–ใฎ้ƒจไฝใ€ๅคšใใฏใ€ๆจช้š”่†œไฝใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็‹ญ็ช„ใจๅ‘ผใถใ€‚Mid aortic syndromeใจใ‚‚ๅ‘ผใถใ€‚ๅคงๅ‹•่„ˆ็‚Žใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ€‚่…Žๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚‚ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็‹ญ็ช„ใซใ‚ˆใ‚‹่™š่ก€็—‡็Šถใ€็‹ญ็ช„้ƒจๅ‰ใฎ่ก€ๅœงไธŠๆ˜‡ใซใ‚ˆใ‚Šใ€่„ณ่™š่ก€ใ€่„ณๅ‡บ่ก€ใ€่…Ž่™š่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ - 2200287 - + + 62 + ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใจใ‚ˆใถใŒใ€ใใ‚Œไปฅๅค–ใฎ้ƒจไฝใ€ๅคšใใฏใ€ๆจช้š”่†œไฝใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็‹ญ็ช„ใจๅ‘ผใถใ€‚Mid aortic syndromeใจใ‚‚ๅ‘ผใถใ€‚ๅคงๅ‹•่„ˆ็‚Žใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ€‚่…Žๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚‚ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็‹ญ็ช„ใซใ‚ˆใ‚‹่™š่ก€็—‡็Šถใ€็‹ญ็ช„้ƒจๅ‰ใฎ่ก€ๅœงไธŠๆ˜‡ใซใ‚ˆใ‚Šใ€่„ณ่™š่ก€ใ€่„ณๅ‡บ่ก€ใ€่…Ž่™š่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ + NANDO:2200287 + + 70ใ‹ใ‚‰73ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† 70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡ Other Coarctation of the aorta - + 70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡ - - 57 - ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจใŒๆฌ ๆใƒป้›ขๆ–ญใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ๅฟƒ็–พๆ‚ฃใ€‚้›ขๆ–ญใ—ใฆใ„ใ‚‹้ƒจไฝใซใ‚ˆใ‚ŠAๅž‹(ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎๆœซๆขขใง้›ขๆ–ญ)ใ€Bๅž‹(ๅทฆ็ท้ ธๅ‹•่„ˆใจๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎ้–“ใง้›ขๆ–ญ)ใ€Cๅž‹(ๅณ่…•้ ญๅ‹•่„ˆใจๅทฆ็ท้ ธๅ‹•่„ˆใจใฎ้–“ใง้›ขๆ–ญ)ใซ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹(Celoria-Pattonๅˆ†้กž)ใ€‚ๆ–ฐ็”Ÿๅ…ๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅ‘ผๅธใ€้™ฅๆฒกๅ‘ผๅธใ€ๅ“บไนณๅ›ฐ้›ฃใ€ๅฐฟ้‡ไฝŽไธ‹ใชใฉใฎๅฟƒไธๅ…จ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200288 - + + 57 + ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจใŒๆฌ ๆใƒป้›ขๆ–ญใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ๅฟƒ็–พๆ‚ฃใ€‚้›ขๆ–ญใ—ใฆใ„ใ‚‹้ƒจไฝใซใ‚ˆใ‚ŠAๅž‹(ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎๆœซๆขขใง้›ขๆ–ญ)ใ€Bๅž‹(ๅทฆ็ท้ ธๅ‹•่„ˆใจๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎ้–“ใง้›ขๆ–ญ)ใ€Cๅž‹(ๅณ่…•้ ญๅ‹•่„ˆใจๅทฆ็ท้ ธๅ‹•่„ˆใจใฎ้–“ใง้›ขๆ–ญ)ใซ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹(Celoria-Pattonๅˆ†้กž)ใ€‚ๆ–ฐ็”Ÿๅ…ๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅ‘ผๅธใ€้™ฅๆฒกๅ‘ผๅธใ€ๅ“บไนณๅ›ฐ้›ฃใ€ๅฐฟ้‡ไฝŽไธ‹ใชใฉใฎๅฟƒไธๅ…จ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200288 + Interruption of aortic arch complex + ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใ‚Šใ ใ‚“ใตใใ”ใ† ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ - + + ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ - - 56 - ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจๅ†…่…”ใŒ้–‰ๅกžใ—็ดข็Šถ็‰ฉใงใคใชใŒใ‚‹ใ‚‚ใฎใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200289 - + + 56 + ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจๅ†…่…”ใŒ้–‰ๅกžใ—็ดข็Šถ็‰ฉใงใคใชใŒใ‚‹ใ‚‚ใฎใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200289 + Aortic arch occlusive disease + ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใธใ„ใใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡ - + ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡ - - 18 - ๅณๅคงๅ‹•่„ˆๅผ“ใจๅทฆๅคงๅ‹•่„ˆๅผ“ใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใจใชใ‚Šใ€่ก€็ฎก่ผชใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ๅทฆๅณใฎๅคงๅ‹•่„ˆๅผ“ใฏๅˆๆตใ—ใฆไธ‹่กŒๅคงๅ‹•่„ˆใจใชใ‚‹ใ€‚ๅทฆๅณๅคงๅ‹•่„ˆๅผ“ใซๆŒŸใพใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็–พๆ‚ฃใ€‚ - 2200290 - + + 18 + ๅณๅคงๅ‹•่„ˆๅผ“ใจๅทฆๅคงๅ‹•่„ˆๅผ“ใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใจใชใ‚Šใ€่ก€็ฎก่ผชใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ๅทฆๅณใฎๅคงๅ‹•่„ˆๅผ“ใฏๅˆๆตใ—ใฆไธ‹่กŒๅคงๅ‹•่„ˆใจใชใ‚‹ใ€‚ๅทฆๅณๅคงๅ‹•่„ˆๅผ“ใซๆŒŸใพใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็–พๆ‚ฃใ€‚ + NANDO:2200290 + Double aortic arch disease + ใ˜ใ‚…ใ†ใตใใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใ—ใ‚‡ใ† ้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡ - + + ้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡ - - 17 - ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นใ€ใŠใ‚ˆใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจใŠใ‚ˆใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ๅˆไฝตใฎไบˆๅพŒใฏๆ‚ชใ„ใ€‚ - 2200291 - + + 17 + ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นใ€ใŠใ‚ˆใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจใŠใ‚ˆใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ๅˆไฝตใฎไบˆๅพŒใฏๆ‚ชใ„ใ€‚ + NANDO:2200291 + Vascular sling + ใฒใ ใ‚Šใฏใ„ใฉใ†ใฟใ‚ƒใใฟใŽใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ† ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ + - + ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ - - 19 - ไธกๅดใฎ็ฌฌ4้ฐ“ๅผ“ๅ‹•่„ˆใฎ้บๆฎ‹ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใŒๅฝขๆˆใ•ใ‚Œใ€็™บ็”Ÿใฎ้Ž็จ‹ใงไธ€้ƒจใฎ่ก€็ฎกใŒ้€€็ธฎใƒปๆถˆๅคฑใ—ใ€่ก€็ฎก่ผชใŒ็”Ÿใ˜ใ‚‹ใ€‚็—…ๅž‹ใจใ—ใฆใฏๅณ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆๅดๅ‹•่„ˆ็ฎกใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅทฆ็ท้ ธๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€็„กๅๅ‹•่„ˆใซใ‚ˆใ‚‹ๅœง่ฟซใชใฉใŒใ‚ใ‚‹ใ€‚่ผช็ŠถใจใชใฃใŸ่ก€็ฎกใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใฎๅœง่ฟซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚็—…ๅž‹ใซใ‚ˆใฃใฆใฏFallotๅ››ๅพด็—‡ใชใฉใซๅˆไฝตใ—ใฆๅ‡บ็พใ€‚ๅ‘ผๅธๅ™จใƒปๆถˆๅŒ–ๅ™จ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใซ่ก€็ฎก่ผชใ‚’่งฃ้™คใ™ใ‚‹ๅค–็ง‘็š„ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200292 - + + 19 + ไธกๅดใฎ็ฌฌ4้ฐ“ๅผ“ๅ‹•่„ˆใฎ้บๆฎ‹ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใŒๅฝขๆˆใ•ใ‚Œใ€็™บ็”Ÿใฎ้Ž็จ‹ใงไธ€้ƒจใฎ่ก€็ฎกใŒ้€€็ธฎใƒปๆถˆๅคฑใ—ใ€่ก€็ฎก่ผชใŒ็”Ÿใ˜ใ‚‹ใ€‚็—…ๅž‹ใจใ—ใฆใฏๅณ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆๅดๅ‹•่„ˆ็ฎกใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅทฆ็ท้ ธๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€็„กๅๅ‹•่„ˆใซใ‚ˆใ‚‹ๅœง่ฟซใชใฉใŒใ‚ใ‚‹ใ€‚่ผช็ŠถใจใชใฃใŸ่ก€็ฎกใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใฎๅœง่ฟซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚็—…ๅž‹ใซใ‚ˆใฃใฆใฏFallotๅ››ๅพด็—‡ใชใฉใซๅˆไฝตใ—ใฆๅ‡บ็พใ€‚ๅ‘ผๅธๅ™จใƒปๆถˆๅŒ–ๅ™จ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใซ่ก€็ฎก่ผชใ‚’่งฃ้™คใ™ใ‚‹ๅค–็ง‘็š„ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200292 + + 77ใŠใ‚ˆใณ78ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ‹ใ‚“ใ‚Šใ‚“ 77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช - Vascular ring + Other Vascular ring - + 77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช - - 66 - ๅ…ˆๅคฉ็š„ใซๆ”ฏๆŒ็ต„็น”ใฎ่„†ๅผฑๆ€งใซใ‚ˆใ‚ŠValsalvaๆดžใฎไธ€้ƒจใŒๅณๅฎคใ‚‚ใ—ใใฏๅณๆˆฟใซ็˜ค็Šถใซ็ชๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ๆผๆ–—้ƒจๅฟƒๅฎคไธญ้š”ๆฌ ๆใซๅคงๅ‹•่„ˆๅผใจใƒใƒซใ‚ตใƒซใƒๆดžใŒ่ฝใก่พผใฟใ€ใƒใƒซใ‚ตใƒซใƒๆดžใฎๆ‹กๅคงใจๅผใฎ้€ธ่„ฑใ‚’ใใŸใ—ใŸใ‚‚ใฎใŒๅคšใ„ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏใƒใƒซใ‚ตใƒซใƒๆดžใง้–‰้Ž–ใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅค‰ๅฝขใ‹ใ‚‰้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใƒใƒซใ‚ตใƒซใƒๆดžใŒๅณๅฎคใชใฉไบค้€šใ‚’ไฝœใ‚‹ใ“ใจใŒใ‚ใ‚‹๏ผˆใƒใƒซใ‚ตใƒซใƒๆดž็ ด่ฃ‚๏ผ‰ใ€‚็ ด่ฃ‚ใ™ใ‚‹ใจใ€็ช็„ถใฎ่ƒธ็—›ใจใจใ‚‚ใซใ€ๅทฆๅณ็Ÿญ็ตกใ‚’ใใŸใ™ใ€‚ๆ‰‹่ก“้ฉๅฟœใงใ‚ใ‚‹ใ€‚ - 2200293 - + + 66 + ๅ…ˆๅคฉ็š„ใซๆ”ฏๆŒ็ต„็น”ใฎ่„†ๅผฑๆ€งใซใ‚ˆใ‚ŠValsalvaๆดžใฎไธ€้ƒจใŒๅณๅฎคใ‚‚ใ—ใใฏๅณๆˆฟใซ็˜ค็Šถใซ็ชๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ๆผๆ–—้ƒจๅฟƒๅฎคไธญ้š”ๆฌ ๆใซๅคงๅ‹•่„ˆๅผใจใƒใƒซใ‚ตใƒซใƒๆดžใŒ่ฝใก่พผใฟใ€ใƒใƒซใ‚ตใƒซใƒๆดžใฎๆ‹กๅคงใจๅผใฎ้€ธ่„ฑใ‚’ใใŸใ—ใŸใ‚‚ใฎใŒๅคšใ„ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏใƒใƒซใ‚ตใƒซใƒๆดžใง้–‰้Ž–ใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅค‰ๅฝขใ‹ใ‚‰้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใƒใƒซใ‚ตใƒซใƒๆดžใŒๅณๅฎคใชใฉไบค้€šใ‚’ไฝœใ‚‹ใ“ใจใŒใ‚ใ‚‹๏ผˆใƒใƒซใ‚ตใƒซใƒๆดž็ ด่ฃ‚๏ผ‰ใ€‚็ ด่ฃ‚ใ™ใ‚‹ใจใ€็ช็„ถใฎ่ƒธ็—›ใจใจใ‚‚ใซใ€ๅทฆๅณ็Ÿญ็ตกใ‚’ใใŸใ™ใ€‚ๆ‰‹่ก“้ฉๅฟœใงใ‚ใ‚‹ใ€‚ + NANDO:2200293 + Aneurysm of sinus valsalva + ใฐใ‚‹ใ•ใ‚‹ใฐใฉใ†ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค - + Valsalvaๆดžๅ‹•่„ˆ็˜ค ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค - - 65 - ๅคงๅ‹•่„ˆใฎไธ€้ƒจใฎๅฃใŒใ€ๅ…จๅ‘จๆ€งใ€ใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆ‹กๅคงใพใŸใฏ็ชๅ‡บใ—ใŸ็Šถๆ…‹ใ€‚ๅฃใฎไธ€้ƒจใŒๅฑ€ๆ‰€็š„ใซๆ‹กๅผตใ—ใฆ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ๅ ดๅˆใ€ใพใŸใฏ็›ดๅพ„ใŒๆญฃๅธธๅพ„ใฎ1.5ๅ€๏ผˆ่ƒธ้ƒจใง45mm๏ผ‰ใ‚’่ถ…ใˆใฆๆ‹กๅคงใ—ใŸๅ ดๅˆใซ็˜คใจ็งฐใ—ใฆใ„ใ‚‹ใ€‚ๆ‹กๅคงใ—ใŸ่ก€็ฎกๅฃใฏ่„†ๅผฑใซใชใ‚Šๅคงๅ‹•่„ˆ่งฃ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใใชใ‚‹ใ€‚Marfan็—‡ๅ€™็พค๏ผˆใŠใ‚ˆใณ้กžไผผ็–พๆ‚ฃ๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงๅพ„55mmไปฅไธŠใฎ็˜คใซๅฏพใ—ใฆๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆโ€”ๅผ“้ƒจใฎ็˜คใฏๅค–็ง‘ๆฒป็™‚ใ€ไธ‹่กŒๅคงๅ‹•่„ˆใฎ็˜คใฏใ€ๆˆไบบใงใ‚ใ‚Œใฐใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๆ–ฝ่กŒใ•ใ‚Œใฆใ„ใชใ„ใ€‚ - 2200294 - + + 65 + ๅคงๅ‹•่„ˆใฎไธ€้ƒจใฎๅฃใŒใ€ๅ…จๅ‘จๆ€งใ€ใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆ‹กๅคงใพใŸใฏ็ชๅ‡บใ—ใŸ็Šถๆ…‹ใ€‚ๅฃใฎไธ€้ƒจใŒๅฑ€ๆ‰€็š„ใซๆ‹กๅผตใ—ใฆ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ๅ ดๅˆใ€ใพใŸใฏ็›ดๅพ„ใŒๆญฃๅธธๅพ„ใฎ1.5ๅ€๏ผˆ่ƒธ้ƒจใง45mm๏ผ‰ใ‚’่ถ…ใˆใฆๆ‹กๅคงใ—ใŸๅ ดๅˆใซ็˜คใจ็งฐใ—ใฆใ„ใ‚‹ใ€‚ๆ‹กๅคงใ—ใŸ่ก€็ฎกๅฃใฏ่„†ๅผฑใซใชใ‚Šๅคงๅ‹•่„ˆ่งฃ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใใชใ‚‹ใ€‚Marfan็—‡ๅ€™็พค๏ผˆใŠใ‚ˆใณ้กžไผผ็–พๆ‚ฃ๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงๅพ„55mmไปฅไธŠใฎ็˜คใซๅฏพใ—ใฆๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆโ€”ๅผ“้ƒจใฎ็˜คใฏๅค–็ง‘ๆฒป็™‚ใ€ไธ‹่กŒๅคงๅ‹•่„ˆใฎ็˜คใฏใ€ๆˆไบบใงใ‚ใ‚Œใฐใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๆ–ฝ่กŒใ•ใ‚Œใฆใ„ใชใ„ใ€‚ + NANDO:2200294 + Aortic aneurysm + ใ ใ„ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† ๅคงๅ‹•่„ˆ็˜ค - + ๅคงๅ‹•่„ˆ็˜ค - - 70 - ็—…็†ๅญฆ็š„ใซใฏๆ•ฐ็จฎ้กžใŒๅŒบๅˆฅใ•ใ‚Œใ‚‹ใŒใ€็—…ๆ…‹็”Ÿ็†ๅญฆ็š„ใซ่‚บๅ‹•่„ˆใŒ่‚บๆฏ›็ดฐ่ก€็ฎกใ‚’็ตŒ้Žใ›ใšใซ่‚บ้™่„ˆใซๆŽฅ็ถšใ™ใ‚‹ๅ ดๅˆใ‚’่‚บๅ‹•้™่„ˆ็—ฎใจใ‚ˆใถใ€‚่งฃๅ‰–๏ผšๅคงใพใ‹ใซใฏ4็จฎ้กžใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฎ่ก€็ฎก่…ซๅž‹ใฏๅคšๆ•ฐใฎ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใจ่‚บ้™่„ˆใŒใคใชใŒใ‚‹ใ€‚็ฌฌไบŒใฎๅ‹•่„ˆ็˜คๅž‹ใงใฏ็ƒๅž‹ใ€ใพใŸใฏๆ‹กๅผตใ—ใŸ็ฎก็Šถ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใŒ่‚บ้™่„ˆใซใคใชใŒใ‚‹ใ€‚็ฌฌไธ‰ใฎ่‚บๅ‹•่„ˆๅทฆๆˆฟไบค้€š็—‡ใงใฏๅณ่‚บๅ‹•่„ˆใฎๆžใŒ็›ดๆŽฅๅทฆๆˆฟใซใคใชใŒใ‚‹ใ€‚็ฌฌๅ››ใฎใณใพใ‚“ๆ€งใฎๅž‹ใงใฏใ€ๅ…จ่‚บ้‡Žใซใ‚ใŸใ‚Šใ€่‚บๅ‹•่„ˆๆŠนๆถˆใง็„กๆ•ฐใฎๆ‹กๅผตใ—ใŸๅฐ่ก€็ฎกใŒๅ‹•้™่„ˆ็˜ปใ‚’ๅฝขๆˆใ™ใ‚‹ๅž‹ใงใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹๏ผš่‚บๅ‹•่„ˆใฎ้™่„ˆ่ก€ใŒ้…ธ็ด ๅŒ–ใ•ใ‚Œใšใซ่‚บ้™่„ˆใธๆตใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅœงใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ่‚บ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆ่ก€ใฎ้…ธ็ด ้ฃฝๅ’Œๅบฆใฏๆง˜ใ€…ใช็จ‹ๅบฆใซไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ๅฟƒๆ‹ๅ‡บ้‡ใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง่‚บๅˆ‡้™คใ™ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚Œใšใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปใงใ‚ใ‚‹ใ€‚็˜ปใŒใณใพใ‚“ๆ€งใฎๆ™‚ใฏใ€ๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ€€็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ใณใพใ‚“ๆ€งใงใชใ„ๆ™‚ใฏใ€ๆฒป็™‚ๅพŒใฏไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใชใจใใฏไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200295 - + + 70 + ็—…็†ๅญฆ็š„ใซใฏๆ•ฐ็จฎ้กžใŒๅŒบๅˆฅใ•ใ‚Œใ‚‹ใŒใ€็—…ๆ…‹็”Ÿ็†ๅญฆ็š„ใซ่‚บๅ‹•่„ˆใŒ่‚บๆฏ›็ดฐ่ก€็ฎกใ‚’็ตŒ้Žใ›ใšใซ่‚บ้™่„ˆใซๆŽฅ็ถšใ™ใ‚‹ๅ ดๅˆใ‚’่‚บๅ‹•้™่„ˆ็—ฎใจใ‚ˆใถใ€‚่งฃๅ‰–๏ผšๅคงใพใ‹ใซใฏ4็จฎ้กžใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฎ่ก€็ฎก่…ซๅž‹ใฏๅคšๆ•ฐใฎ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใจ่‚บ้™่„ˆใŒใคใชใŒใ‚‹ใ€‚็ฌฌไบŒใฎๅ‹•่„ˆ็˜คๅž‹ใงใฏ็ƒๅž‹ใ€ใพใŸใฏๆ‹กๅผตใ—ใŸ็ฎก็Šถ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใŒ่‚บ้™่„ˆใซใคใชใŒใ‚‹ใ€‚็ฌฌไธ‰ใฎ่‚บๅ‹•่„ˆๅทฆๆˆฟไบค้€š็—‡ใงใฏๅณ่‚บๅ‹•่„ˆใฎๆžใŒ็›ดๆŽฅๅทฆๆˆฟใซใคใชใŒใ‚‹ใ€‚็ฌฌๅ››ใฎใณใพใ‚“ๆ€งใฎๅž‹ใงใฏใ€ๅ…จ่‚บ้‡Žใซใ‚ใŸใ‚Šใ€่‚บๅ‹•่„ˆๆŠนๆถˆใง็„กๆ•ฐใฎๆ‹กๅผตใ—ใŸๅฐ่ก€็ฎกใŒๅ‹•้™่„ˆ็˜ปใ‚’ๅฝขๆˆใ™ใ‚‹ๅž‹ใงใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹๏ผš่‚บๅ‹•่„ˆใฎ้™่„ˆ่ก€ใŒ้…ธ็ด ๅŒ–ใ•ใ‚Œใšใซ่‚บ้™่„ˆใธๆตใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅœงใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ่‚บ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆ่ก€ใฎ้…ธ็ด ้ฃฝๅ’Œๅบฆใฏๆง˜ใ€…ใช็จ‹ๅบฆใซไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ๅฟƒๆ‹ๅ‡บ้‡ใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง่‚บๅˆ‡้™คใ™ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚Œใšใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปใงใ‚ใ‚‹ใ€‚็˜ปใŒใณใพใ‚“ๆ€งใฎๆ™‚ใฏใ€ๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ€€็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ใณใพใ‚“ๆ€งใงใชใ„ๆ™‚ใฏใ€ๆฒป็™‚ๅพŒใฏไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใชใจใใฏไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200295 + Pulmonary arteriovenous fistulae + ใฏใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† ่‚บๅ‹•้™่„ˆ็˜ป + - + + ่‚บๅ‹•้™่„ˆ็˜ป - - 69 - ๅณใพใŸใฏๅทฆใฎๅ† ็Šถๅ‹•่„ˆใŒ็˜ปใฎ่ก€็ฎกใ‚’ไป‹ใ—ใฆ็›ดๆŽฅๅฟƒใ€ใพใŸใฏๅคง่ก€็ฎก่…”ใซ้–‹ใ„ใฆใ„ใ‚‹ใ€‚็Ÿญ็ตกใŒๅคšใ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใซใฏไนณๅ…ๆœŸใซๅคšๅ‘ผๅธใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใชใฉใฎๅฟƒไธๅ…จใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตฝใŒๅฐ‘ใชใ„ๅ ดๅˆใซใฏๅฐๅ…ๆœŸใซใฏๅฟƒ่‡“ใฎ้›‘้Ÿณใ‚’ๅ‘ˆใ™ใ‚‹ใ ใ‘ใงใ€็‰นๅˆฅใฎ็—‡็Šถใฏใชใ„ใ€‚ๅฟƒๅ†…่†œ็‚Žไบˆ้˜ฒใ€ๅฟƒไธๅ…จใ€ๅฟƒ็ญ‹่™š่ก€ใ€็˜ปใฎ็ ด่ฃ‚ใƒชใ‚นใ‚ฏใŒๆฒป็™‚้ฉๅฟœใงใ‚ใ‚‹ใ€‚ๅฐใ•ใช็˜ป่ก€็ฎกใฎๆฒป็™‚้ฉๅฟœใฏใชใ„ใ€‚ๅนด้ฝขใจใจใ‚‚ใซ็˜ป่ก€็ฎกใฏๆ‹กๅคงใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใงใ€ใ‚ใ‚‹็จ‹ๅบฆไปฅไธŠใฎ็˜ป่ก€็ฎกใชใ‚‰ๆฒป็™‚้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใ™ใ‚‹ใ€‚่ก“ๅพŒใ€ๆŠ—่ก€ๅฐๆฟ่–ฌใ‚„ๆŠ—ๅ‡ๅ›บ่–ฌใŒๅฟ…่ฆใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ก“ๅพŒใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ๅ† ๅ‹•่„ˆใฎๆ‹กๅคงใŒ็„กใ„ใจใใฏใ€ไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใ‚‚ๅคงใใช็˜ป่ก€็ฎกใ‚„ๅ† ๅ‹•่„ˆใŒๆฎ‹ๅญ˜ใ™ใ‚‹ใจใใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200296 - + + 69 + ๅณใพใŸใฏๅทฆใฎๅ† ็Šถๅ‹•่„ˆใŒ็˜ปใฎ่ก€็ฎกใ‚’ไป‹ใ—ใฆ็›ดๆŽฅๅฟƒใ€ใพใŸใฏๅคง่ก€็ฎก่…”ใซ้–‹ใ„ใฆใ„ใ‚‹ใ€‚็Ÿญ็ตกใŒๅคšใ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใซใฏไนณๅ…ๆœŸใซๅคšๅ‘ผๅธใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใชใฉใฎๅฟƒไธๅ…จใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตฝใŒๅฐ‘ใชใ„ๅ ดๅˆใซใฏๅฐๅ…ๆœŸใซใฏๅฟƒ่‡“ใฎ้›‘้Ÿณใ‚’ๅ‘ˆใ™ใ‚‹ใ ใ‘ใงใ€็‰นๅˆฅใฎ็—‡็Šถใฏใชใ„ใ€‚ๅฟƒๅ†…่†œ็‚Žไบˆ้˜ฒใ€ๅฟƒไธๅ…จใ€ๅฟƒ็ญ‹่™š่ก€ใ€็˜ปใฎ็ ด่ฃ‚ใƒชใ‚นใ‚ฏใŒๆฒป็™‚้ฉๅฟœใงใ‚ใ‚‹ใ€‚ๅฐใ•ใช็˜ป่ก€็ฎกใฎๆฒป็™‚้ฉๅฟœใฏใชใ„ใ€‚ๅนด้ฝขใจใจใ‚‚ใซ็˜ป่ก€็ฎกใฏๆ‹กๅคงใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใงใ€ใ‚ใ‚‹็จ‹ๅบฆไปฅไธŠใฎ็˜ป่ก€็ฎกใชใ‚‰ๆฒป็™‚้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใ™ใ‚‹ใ€‚่ก“ๅพŒใ€ๆŠ—่ก€ๅฐๆฟ่–ฌใ‚„ๆŠ—ๅ‡ๅ›บ่–ฌใŒๅฟ…่ฆใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ก“ๅพŒใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ๅ† ๅ‹•่„ˆใฎๆ‹กๅคงใŒ็„กใ„ใจใใฏใ€ไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใ‚‚ๅคงใใช็˜ป่ก€็ฎกใ‚„ๅ† ๅ‹•่„ˆใŒๆฎ‹ๅญ˜ใ™ใ‚‹ใจใใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200296 + Coronary artery fistula + ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† ๅ† ๅ‹•่„ˆ็˜ป - + + ๅ† ๅ‹•่„ˆ็˜ป - - 71 - ๅ‹•่„ˆใจ้™่„ˆใŒๆฏ›็ดฐ่ก€็ฎกใ‚’้€šใ•ใš็•ฐๅธธ่ก€็ฎกใงไบค้€šใ—ใฆใ„ใ‚‹็—…ๆ…‹ใ€‚ ้ ญ่“‹ๅ†…ใ€่‚่‡“ใ€ๅ››่‚ขใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅ‹•่„ˆ่ก€ใŒ็›ดๆŽฅ้™่„ˆใซ้‚„ๆตใ™ใ‚‹ใŸใ‚ใ€ๅณๅฟƒ็ณปใซๅฎน้‡่ฒ ่ทใ‚’ใใŸใ—ๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใŒใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใชใ„ใ—ๅˆ‡้™คใ™ใ‚‹ใ€‚ไบˆๅพŒใฏ้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใŸใ‚Šใ€ๆฒป็™‚ๅ›ฐ้›ฃใช้ƒจไฝใซใ‚ใ‚‹ๆ™‚ใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200297 - + + 71 + ๅ‹•่„ˆใจ้™่„ˆใŒๆฏ›็ดฐ่ก€็ฎกใ‚’้€šใ•ใš็•ฐๅธธ่ก€็ฎกใงไบค้€šใ—ใฆใ„ใ‚‹็—…ๆ…‹ใ€‚ ้ ญ่“‹ๅ†…ใ€่‚่‡“ใ€ๅ››่‚ขใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅ‹•่„ˆ่ก€ใŒ็›ดๆŽฅ้™่„ˆใซ้‚„ๆตใ™ใ‚‹ใŸใ‚ใ€ๅณๅฟƒ็ณปใซๅฎน้‡่ฒ ่ทใ‚’ใใŸใ—ๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใŒใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใชใ„ใ—ๅˆ‡้™คใ™ใ‚‹ใ€‚ไบˆๅพŒใฏ้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใŸใ‚Šใ€ๆฒป็™‚ๅ›ฐ้›ฃใช้ƒจไฝใซใ‚ใ‚‹ๆ™‚ใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200297 + + 82ใŠใ‚ˆใณ83ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚Šใ‚…ใ† 82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป - Arteriovenous fistulae + Other Arteriovenous fistulae - + 82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป - - 83 - ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœงใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆๅญฟ็ธฎใŒ็”Ÿใ˜ใ€ใใ“ใซ่ก€็ฎกๅฃใฎ่‚ฅๅŽšๆ€งๅค‰ๅŒ–ใ‚„่ก€็ฎก้š›ๆง‹็ฏ‰ใชใฉใฎๅŸบ่ณช็š„็—…ๅค‰ใŒๅŠ ใ‚ใ‚Šๆƒน่ตทใ•ใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‚บใฎ็ญ‹ๆ€งๅ‹•่„ˆใ‚„็ดฐๅ‹•่„ˆใฎไธญ่†œใ€ๅ†…่†œ่‚ฅๅŽšใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใฎ่ก€ๅœงใŒ้ซ˜ใพใ‚Šใ€ๅฟƒๆ‹ๅ‡บ้‡ไฝŽไธ‹ใ‚’็”Ÿใ˜ใ€ๅณๅฟƒไธๅ…จใ‚’ใฏใ˜ใ‚ๅฟƒ่‡“ใ‚„่‚บใฎๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ใ‚‚ใŸใ‚‰ใ™ใ€้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใ€‚ๅŽŸๅ› ใฏใ€BMPR2ใ€ALK1ใ€Endoglinใชใฉใฎ้บไผๅญ็•ฐๅธธใŒๅญ˜ๅœจใ™ใ‚‹ใ‚‚ใฎใจใ€ๆœชใ ้บไผๅญ็•ฐๅธธใŒใ‚ใใ‚‰ใ‹ใงใชใ„ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใงใ€้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ๆง˜ใ€…ใช่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใŒ้–‹็™บใ•ใ‚Œใ€่‡จๅบŠไฝฟ็”จใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใ‚Šใ€ไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใฆใ„ใ‚‹ใŒใ€ใใ‚Œใงใ‚‚ไพ็„ถไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใซใฏๅค‰ใ‚ใ‚Šใชใ„ใ€‚ - 2200298 - - Idiopathic pulmonary arterial hypertension + + 83 + ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœงใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆๅญฟ็ธฎใŒ็”Ÿใ˜ใ€ใใ“ใซ่ก€็ฎกๅฃใฎ่‚ฅๅŽšๆ€งๅค‰ๅŒ–ใ‚„่ก€็ฎก้š›ๆง‹็ฏ‰ใชใฉใฎๅŸบ่ณช็š„็—…ๅค‰ใŒๅŠ ใ‚ใ‚Šๆƒน่ตทใ•ใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‚บใฎ็ญ‹ๆ€งๅ‹•่„ˆใ‚„็ดฐๅ‹•่„ˆใฎไธญ่†œใ€ๅ†…่†œ่‚ฅๅŽšใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใฎ่ก€ๅœงใŒ้ซ˜ใพใ‚Šใ€ๅฟƒๆ‹ๅ‡บ้‡ไฝŽไธ‹ใ‚’็”Ÿใ˜ใ€ๅณๅฟƒไธๅ…จใ‚’ใฏใ˜ใ‚ๅฟƒ่‡“ใ‚„่‚บใฎๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ใ‚‚ใŸใ‚‰ใ™ใ€้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใ€‚ๅŽŸๅ› ใฏใ€BMPR2ใ€ALK1ใ€Endoglinใชใฉใฎ้บไผๅญ็•ฐๅธธใŒๅญ˜ๅœจใ™ใ‚‹ใ‚‚ใฎใจใ€ๆœชใ ้บไผๅญ็•ฐๅธธใŒใ‚ใใ‚‰ใ‹ใงใชใ„ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใงใ€้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ๆง˜ใ€…ใช่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใŒ้–‹็™บใ•ใ‚Œใ€่‡จๅบŠไฝฟ็”จใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใ‚Šใ€ไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใฆใ„ใ‚‹ใŒใ€ใใ‚Œใงใ‚‚ไพ็„ถไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใซใฏๅค‰ใ‚ใ‚Šใชใ„ใ€‚ + NANDO:2200298 + + pulmonary arterial hypertension + ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - + - - + + ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ - - 94 - ่‚บใฎ็–พๆ‚ฃใฎๅญ˜ๅœจใซใ‚ˆใ‚‹่‚บๅพช็’ฐใฎ้šœๅฎณใซใ‚ˆใฃใฆ่‚บๅ‹•่„ˆๅœงใฎไธŠๆ˜‡ใ‚’ใใŸใ—ใ€ๅณๅฟƒไธๅ…จใซ้™ฅใ‚‹็—…ๆ…‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ…ขๆ€ง่‚บ็–พๆ‚ฃใ€้ซ˜ๅบฆใฎๆ‰ๆกƒ่‚ฅๅคงใซใ‚ˆใ‚‹ๆฐ—้“้–‰ๅกžใ€ๆ„ŸๆŸ“ๆ€ง่‚บ็–พๆ‚ฃใ€ๅ–˜ๆฏใชใฉใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใ€ไฝŽๅ‡บๅพไฝ“้‡ๅ…ใฎ้•ทๆœŸไบบๅทฅๅ‘ผๅธ็ฎก็†ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃbronchopulmonary dysplasiaใชใฉใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏ้–“่ณชๆ€ง่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ€้•ทๅนดใฎๅ–ซ็…™ใซใ‚ˆใ‚‹่‚บ้šœๅฎณใชใฉใŒๅŽŸๅ› ใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใซใฏๅพช็’ฐ้šœๅฎณใฎๅŽŸๅ› ใจใชใฃใฆใ„ใ‚‹่‚บใฎ็–พๆ‚ฃใฎๆฒป็™‚ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใซๅฏพใ—ใฆใฏใ€่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’็”จใ„ใ‚‹ใ€‚ๅณๅฟƒไธๅ…จใซๅฏพใ—ใฆใฏๆŠ—ๅฟƒไธๅ…จ็™‚ๆณ•ใ‚’ใŠใ“ใชใ†ใ€‚ - 2200299 - + + 94 + ่‚บใฎ็–พๆ‚ฃใฎๅญ˜ๅœจใซใ‚ˆใ‚‹่‚บๅพช็’ฐใฎ้šœๅฎณใซใ‚ˆใฃใฆ่‚บๅ‹•่„ˆๅœงใฎไธŠๆ˜‡ใ‚’ใใŸใ—ใ€ๅณๅฟƒไธๅ…จใซ้™ฅใ‚‹็—…ๆ…‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ…ขๆ€ง่‚บ็–พๆ‚ฃใ€้ซ˜ๅบฆใฎๆ‰ๆกƒ่‚ฅๅคงใซใ‚ˆใ‚‹ๆฐ—้“้–‰ๅกžใ€ๆ„ŸๆŸ“ๆ€ง่‚บ็–พๆ‚ฃใ€ๅ–˜ๆฏใชใฉใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใ€ไฝŽๅ‡บๅพไฝ“้‡ๅ…ใฎ้•ทๆœŸไบบๅทฅๅ‘ผๅธ็ฎก็†ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃbronchopulmonary dysplasiaใชใฉใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏ้–“่ณชๆ€ง่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ€้•ทๅนดใฎๅ–ซ็…™ใซใ‚ˆใ‚‹่‚บ้šœๅฎณใชใฉใŒๅŽŸๅ› ใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใซใฏๅพช็’ฐ้šœๅฎณใฎๅŽŸๅ› ใจใชใฃใฆใ„ใ‚‹่‚บใฎ็–พๆ‚ฃใฎๆฒป็™‚ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใซๅฏพใ—ใฆใฏใ€่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’็”จใ„ใ‚‹ใ€‚ๅณๅฟƒไธๅ…จใซๅฏพใ—ใฆใฏๆŠ—ๅฟƒไธๅ…จ็™‚ๆณ•ใ‚’ใŠใ“ใชใ†ใ€‚ + NANDO:2200299 + Chronic cor pulmonale + ใพใ‚“ใ›ใ„ใฏใ„ใ›ใ„ใ—ใ‚“ ๆ…ขๆ€ง่‚บๆ€งๅฟƒ - + + ๆ…ขๆ€ง่‚บๆ€งๅฟƒ - - 37 - ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆใ€ๅฟƒๆˆฟใ‹ใ‚‰ๅณๅฟƒๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๆฏ”่ผƒ็š„็จ€ใชๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไธ‰ๅฐ–ๅผๅฐ–ใ€่…ฑ็ดขใ€ไนณ้ ญ็ญ‹ใŒไฝŽๅฝขๆˆใงใ€ๅผ่ผช็‹ญ็ช„ใ‚’ใจใ‚‚ใชใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ใฎ็จ‹ๅบฆใซๅฟœใ˜ใฆใ€ๆ‰‹่ก“้ฉๅฟœใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚ - 2200300 - + + 37 + ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆใ€ๅฟƒๆˆฟใ‹ใ‚‰ๅณๅฟƒๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๆฏ”่ผƒ็š„็จ€ใชๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไธ‰ๅฐ–ๅผๅฐ–ใ€่…ฑ็ดขใ€ไนณ้ ญ็ญ‹ใŒไฝŽๅฝขๆˆใงใ€ๅผ่ผช็‹ญ็ช„ใ‚’ใจใ‚‚ใชใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ใฎ็จ‹ๅบฆใซๅฟœใ˜ใฆใ€ๆ‰‹่ก“้ฉๅฟœใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚ + NANDO:2200300 + Tricuspid valve stenosis + ใ•ใ‚“ใ›ใ‚“ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡ - + ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡ - - 38 - ไธ‰ๅฐ–ๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใฃใฆๅณๅฟƒๅฎคใ‹ใ‚‰ๅณๅฟƒๆˆฟใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผไป˜ๅฑžๅ™จ๏ผˆไนณ้ ญ็ญ‹ใ‚„่…ฑ็ดข๏ผ‰ใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้–‰้Ž–ไธๅ…จใŒ้ซ˜ๅบฆใ ใจใ€ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ - 2200301 - + + 38 + ไธ‰ๅฐ–ๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใฃใฆๅณๅฟƒๅฎคใ‹ใ‚‰ๅณๅฟƒๆˆฟใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผไป˜ๅฑžๅ™จ๏ผˆไนณ้ ญ็ญ‹ใ‚„่…ฑ็ดข๏ผ‰ใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้–‰้Ž–ไธๅ…จใŒ้ซ˜ๅบฆใ ใจใ€ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ + NANDO:2200301 + Tricuspid valve regurgitation + ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ† ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡ - + ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡ - - 39 - ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใƒชใ‚ฆใƒžใƒๆ€งใ‚‚ใ‚ใ‚‹ใŒใ€ๅฐๅ…ใงใฏๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„ใฏๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚ - 2200302 - + + 39 + ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใƒชใ‚ฆใƒžใƒๆ€งใ‚‚ใ‚ใ‚‹ใŒใ€ๅฐๅ…ใงใฏๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„ใฏๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200302 + Mitral valve stenosis + ใใ†ใผใ†ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅƒงๅธฝๅผ็‹ญ็ช„็—‡ - + ๅƒงๅธฝๅผ็‹ญ็ช„็—‡ - - 40 - ๅƒงๅธฝๅผใŠใ‚ˆใณๅผไป˜ๅฑžๅ™จใฎ็•ฐๅธธใซใ‚ˆใ‚ŠๅŽ็ธฎๆœŸใซๅทฆๅฎคใ‹ใ‚‰ๅทฆๆˆฟใธใฎ้€†ๆตใŒ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅƒงๅธฝๅผ้€ธ่„ฑ็—‡ๅ€™็พคใ€Marfan็—‡ๅ€™็พคใ€Ehlers-Danlos็—‡ๅ€™็พคใ€ๅทๅดŽ็—…ๅพŒๅ† ๅ‹•่„ˆ็˜คใ€ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใ€ไนณๅ…่…ฑ็ดขๆ–ญ่ฃ‚ใชใฉใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใซใฏๆฒป็™‚ใฏไธ่ฆใฎใ“ใจใŒๅคšใ„ใ€‚ไธญ็ญ‰็—‡ใซใฏๅ†…็ง‘ๆฒป็™‚ใ€้‡็—‡ไพ‹ใซใฏๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ไบˆๅพŒใฏใ€ๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ - 2200303 - - Mitral valve stenosis + + 40 + ๅƒงๅธฝๅผใŠใ‚ˆใณๅผไป˜ๅฑžๅ™จใฎ็•ฐๅธธใซใ‚ˆใ‚ŠๅŽ็ธฎๆœŸใซๅทฆๅฎคใ‹ใ‚‰ๅทฆๆˆฟใธใฎ้€†ๆตใŒ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅƒงๅธฝๅผ้€ธ่„ฑ็—‡ๅ€™็พคใ€Marfan็—‡ๅ€™็พคใ€Ehlers-Danlos็—‡ๅ€™็พคใ€ๅทๅดŽ็—…ๅพŒๅ† ๅ‹•่„ˆ็˜คใ€ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใ€ไนณๅ…่…ฑ็ดขๆ–ญ่ฃ‚ใชใฉใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใซใฏๆฒป็™‚ใฏไธ่ฆใฎใ“ใจใŒๅคšใ„ใ€‚ไธญ็ญ‰็—‡ใซใฏๅ†…็ง‘ๆฒป็™‚ใ€้‡็—‡ไพ‹ใซใฏๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ไบˆๅพŒใฏใ€ๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ + NANDO:2200303 + + Mitral Regurgitation + ใใ†ใผใ†ในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ† ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡ - - + + ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡ - - 43 - ่‚บๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅณๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ˜็‹ฌใฎใ‚‚ใฎใŠใ‚ˆใณFallotๅ››ๅพด็—‡ใชใฉไป–็–พๆ‚ฃใซๅˆไฝตใ—ใŸใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅฟƒใ‚จใ‚ณใƒผใ€ๅฟƒ่‡“ใ‚ซใƒ†ใƒผใƒ†ใƒซๆคœๆŸปใ‹ใ‚‰้‡็—‡ๅบฆใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚๏ผ‘๏ผ‰ ่ปฝ็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธ‹ใ€ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธ‹๏ผ’๏ผ‰ ไธญ็ญ‰็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธŠใ€ไฝ“่ก€ๅœงใพใง๏ผ“๏ผ‰ ้‡็—‡๏ผšไฝ“่ก€ๅœงไปฅไธŠใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใ€ๅ‹•่„ˆ็ฎกใซ่‚บๅพช็’ฐใŒไพๅญ˜ใ—ใฆใ„ใ‚‹ไพ‹ใฏใ€ใจใใซ้‡็—‡ใงใ‚ใ‚‹ใ€‚ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธŠใฎๅ ดๅˆใฏๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๆฒป็™‚ใฏใ€็ตŒ็šฎ็š„ใ‚ซใƒ†ใƒผใƒ†ใƒซ่‚บๅ‹•่„ˆๅผๆ‹กๅผต่ก“ใ‹ๆ‰‹่ก“ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚ŒใชใใชใฃใŸใ€‚ๆฒป็™‚ๅพŒใฎไบˆๅพŒใฏใ€ๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ - 2200304 - + + 43 + ่‚บๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅณๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ˜็‹ฌใฎใ‚‚ใฎใŠใ‚ˆใณFallotๅ››ๅพด็—‡ใชใฉไป–็–พๆ‚ฃใซๅˆไฝตใ—ใŸใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅฟƒใ‚จใ‚ณใƒผใ€ๅฟƒ่‡“ใ‚ซใƒ†ใƒผใƒ†ใƒซๆคœๆŸปใ‹ใ‚‰้‡็—‡ๅบฆใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚๏ผ‘๏ผ‰ ่ปฝ็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธ‹ใ€ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธ‹๏ผ’๏ผ‰ ไธญ็ญ‰็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธŠใ€ไฝ“่ก€ๅœงใพใง๏ผ“๏ผ‰ ้‡็—‡๏ผšไฝ“่ก€ๅœงไปฅไธŠใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใ€ๅ‹•่„ˆ็ฎกใซ่‚บๅพช็’ฐใŒไพๅญ˜ใ—ใฆใ„ใ‚‹ไพ‹ใฏใ€ใจใใซ้‡็—‡ใงใ‚ใ‚‹ใ€‚ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธŠใฎๅ ดๅˆใฏๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๆฒป็™‚ใฏใ€็ตŒ็šฎ็š„ใ‚ซใƒ†ใƒผใƒ†ใƒซ่‚บๅ‹•่„ˆๅผๆ‹กๅผต่ก“ใ‹ๆ‰‹่ก“ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚ŒใชใใชใฃใŸใ€‚ๆฒป็™‚ๅพŒใฎไบˆๅพŒใฏใ€ๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ + NANDO:2200304 + Pulmonary valve stenosis + ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡ - + ่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡ - - 44 - ่‚บๅ‹•่„ˆใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใ‹ใ‚‰ๅณๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไป–็–พๆ‚ฃใซๅˆไฝตใ€ใ‚ใ‚‹ใ„ใฏ่ก“ๅพŒใซ่ชใ‚ใ‚‹ใ“ใจใฏๅคšใ„ใŒใ€ๅ…ˆๅคฉ็š„ใชใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚้ซ˜ๅบฆไพ‹ใงใฏๆ‰‹่ก“็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ - 2200305 - + + 44 + ่‚บๅ‹•่„ˆใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใ‹ใ‚‰ๅณๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไป–็–พๆ‚ฃใซๅˆไฝตใ€ใ‚ใ‚‹ใ„ใฏ่ก“ๅพŒใซ่ชใ‚ใ‚‹ใ“ใจใฏๅคšใ„ใŒใ€ๅ…ˆๅคฉ็š„ใชใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚้ซ˜ๅบฆไพ‹ใงใฏๆ‰‹่ก“็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ + NANDO:2200305 + Pulmonary valve regurgitation + ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ† ่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡ - + ่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡ - - 41 - ๅคงๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใฎๆœ‰็—…็Ž‡ใฏ2-3%ใจใ‚‚่จ€ใ‚ใ‚Œใ€ๅคงๅ‹•่„ˆๅผใซ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ไบบๅฃใฏๅฐ‘ใชใใชใ„ใŒใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใฎใฏใใฎไธ€้ƒจใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใƒป่ƒŽๅ…ๆœŸใ‹ใ‚‰้‡็—‡ๅฟƒไธๅ…จ๏ผˆไฝŽๅฟƒๆ‹ๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใงใฏ็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€่ปฝใƒปไธญ็ญ‰็—‡ใซใŠใ„ใฆใ‚‚ๅŠ ้ฝขใจใจใ‚‚ใซ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใใ€้‹ๅ‹•ๆ™‚ๆฏๅˆ‡ใ‚Œใ€ๆ˜“็–ฒๅŠดๆ„Ÿใ‹ใ‚‰้‹ๅ‹•ๆ™‚่ƒธ็—›ใ€ๅคฑ็ฅžใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚Šๆ™‚ใซ็ช็„ถๆญปใ‚’่ตทใ“ใ™ใ€‚ไธญ็ญ‰็—‡ไปฅไธŠใซใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๅค–็ง‘็š„ๆฒป็™‚๏ผˆๅค–็ง‘็š„ไบค้€ฃๅˆ‡้–‹่ก“ใ‚ใ‚‹ใ„ใฏๅผ็ฝฎๆ›่ก“๏ผ‰ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200306 - + + 41 + ๅคงๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใฎๆœ‰็—…็Ž‡ใฏ2-3%ใจใ‚‚่จ€ใ‚ใ‚Œใ€ๅคงๅ‹•่„ˆๅผใซ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ไบบๅฃใฏๅฐ‘ใชใใชใ„ใŒใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใฎใฏใใฎไธ€้ƒจใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใƒป่ƒŽๅ…ๆœŸใ‹ใ‚‰้‡็—‡ๅฟƒไธๅ…จ๏ผˆไฝŽๅฟƒๆ‹ๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใงใฏ็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€่ปฝใƒปไธญ็ญ‰็—‡ใซใŠใ„ใฆใ‚‚ๅŠ ้ฝขใจใจใ‚‚ใซ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใใ€้‹ๅ‹•ๆ™‚ๆฏๅˆ‡ใ‚Œใ€ๆ˜“็–ฒๅŠดๆ„Ÿใ‹ใ‚‰้‹ๅ‹•ๆ™‚่ƒธ็—›ใ€ๅคฑ็ฅžใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚Šๆ™‚ใซ็ช็„ถๆญปใ‚’่ตทใ“ใ™ใ€‚ไธญ็ญ‰็—‡ไปฅไธŠใซใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๅค–็ง‘็š„ๆฒป็™‚๏ผˆๅค–็ง‘็š„ไบค้€ฃๅˆ‡้–‹่ก“ใ‚ใ‚‹ใ„ใฏๅผ็ฝฎๆ›่ก“๏ผ‰ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200306 + Aortic valve stenosis + ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡ - - - - + ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡ - - 42 - ๅคงๅ‹•่„ˆๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šๅคงๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใงใฏๅŠ ้ฝขใจใจใ‚‚ใซใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™็Ž‡ใŒไธŠใŒใฃใฆใใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ๏ผˆไพ‹ใˆใฐใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅคง่ก€็ฎก่ปขๆ›็—‡Jatene่ก“ๅพŒใชใฉ๏ผ‰ใ‚„็ตๅˆ็น”็—…๏ผˆMarfan็—‡ๅ€™็พคใชใฉ๏ผ‰ใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคๅฎน้‡่ฒ ่ทไพ‹ใงใฏใ€้€†ๆตใฎ้€ฒ่กŒใ‚’้˜ฒใ็›ฎ็š„ใง่ก€็ฎกๆ‹กๅผต่–ฌใŒๆŠ•ไธŽใ•ใ‚Œใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจใ€ไธ€่ˆฌ็š„ใซใฏๅคงๅ‹•่„ˆๅผ็ฝฎๆ›่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆๆ‹กๅคงใฎๅผทใ„ๅ ดๅˆใซใฏไธŠ่กŒๅคงๅ‹•่„ˆๅŸบ้ƒจ็ฝฎๆ›่ก“(Bentallๆ‰‹่ก“)ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ - 2200307 - + + 42 + ๅคงๅ‹•่„ˆๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šๅคงๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใงใฏๅŠ ้ฝขใจใจใ‚‚ใซใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™็Ž‡ใŒไธŠใŒใฃใฆใใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ๏ผˆไพ‹ใˆใฐใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅคง่ก€็ฎก่ปขๆ›็—‡Jatene่ก“ๅพŒใชใฉ๏ผ‰ใ‚„็ตๅˆ็น”็—…๏ผˆMarfan็—‡ๅ€™็พคใชใฉ๏ผ‰ใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคๅฎน้‡่ฒ ่ทไพ‹ใงใฏใ€้€†ๆตใฎ้€ฒ่กŒใ‚’้˜ฒใ็›ฎ็š„ใง่ก€็ฎกๆ‹กๅผต่–ฌใŒๆŠ•ไธŽใ•ใ‚Œใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจใ€ไธ€่ˆฌ็š„ใซใฏๅคงๅ‹•่„ˆๅผ็ฝฎๆ›่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆๆ‹กๅคงใฎๅผทใ„ๅ ดๅˆใซใฏไธŠ่กŒๅคงๅ‹•่„ˆๅŸบ้ƒจ็ฝฎๆ›่ก“(Bentallๆ‰‹่ก“)ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ + NANDO:2200307 + Aortic valve regurgitation + ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ† ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡ - + + ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡ - - 55 - ๅƒงๅธฝๅผ่ผช็›ดไธŠใฎๅฟƒๆˆฟๅดใซ่ตทๅง‹ใ™ใ‚‹่†œ็”จใฎ้š†่ตท็‰ฉใŒๅ…จๅ‘จๆ€งใซๅƒงๅธฝๅผใ‚’่ฆ†ใ„ใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็‹ญ็ช„็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ่†œๆง˜็‰ฉใฏๅทฆๅฟƒ่€ณใ‚ˆใ‚Šใ‚‚ๅƒงๅธฝๅผๅดใซใ‚ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉใฎไป–ใฎๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆœ‰ๆ„ใช็‹ญ็ช„ใงใ€่‚บใ†ใฃ่ก€ใ‚„่‚บ้ซ˜่ก€ๅœงใ‚’ใใŸใ™ไพ‹ใงใฏใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200308 - + + 55 + ๅƒงๅธฝๅผ่ผช็›ดไธŠใฎๅฟƒๆˆฟๅดใซ่ตทๅง‹ใ™ใ‚‹่†œ็”จใฎ้š†่ตท็‰ฉใŒๅ…จๅ‘จๆ€งใซๅƒงๅธฝๅผใ‚’่ฆ†ใ„ใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็‹ญ็ช„็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ่†œๆง˜็‰ฉใฏๅทฆๅฟƒ่€ณใ‚ˆใ‚Šใ‚‚ๅƒงๅธฝๅผๅดใซใ‚ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉใฎไป–ใฎๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆœ‰ๆ„ใช็‹ญ็ช„ใงใ€่‚บใ†ใฃ่ก€ใ‚„่‚บ้ซ˜่ก€ๅœงใ‚’ใใŸใ™ไพ‹ใงใฏใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200308 + Supramitral ring + ใใ†ใผใ†ในใ‚“ในใ‚“ใ˜ใ‚‡ใ†ใ‚Šใ‚“ ๅƒงๅธฝๅผๅผไธŠ่ผช - + + ๅƒงๅธฝๅผๅผไธŠ่ผช - - 75 - ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ - 2200309 - + + 75 + ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ + NANDO:2200309 + Asplenia syndrome + ใ‚€ใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็„ก่„พ็—‡ๅ€™็พค - + - - + ็„ก่„พ็—‡ๅ€™็พค - - 74 - ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚ - 2200310 - + + 74 + ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚ + NANDO:2200310 + Polysplenia syndrome + ใŸใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅคš่„พ็—‡ๅ€™็พค - - + - - + ๅคš่„พ็—‡ๅ€™็พค - - 90 - 2ๅฟƒๅฎคไฟฎๅพฉใŒไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€ๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹็–พๆ‚ฃใซๅฏพใ—ใฆใ€Fontanๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Fontanๆ‰‹่ก“ใซใฏใ€ๅฟƒๆˆฟใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใ‚„ใ€ไธŠๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ€ไธ‹ๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใชใฉใŒใ‚ใ‚‹ใ€‚Fontan่ก“ๅพŒใ€ไธปใซ้ ้š”ๆœŸใซใ€ไธๆ•ด่„ˆใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€่ก€ๆ “ๅกžๆ “็—‡ใ€่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ€ๅฟƒไธๅ…จใ€่‚บ้ซ˜่ก€ๅœงใ€่‚็กฌๅค‰ใ€่‚ใŒใ‚“ใ€่…Žไธๅ…จใชใฉๅ…จ่บซใฎ่‡“ๅ™จไธๅ…จใ‚’ใใŸใ™็—‡ๅ€™็พคใ€‚ๆ นๆœฌๆฒป็™‚ใŒ็„กใ„ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200311 - + + 90 + 2ๅฟƒๅฎคไฟฎๅพฉใŒไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€ๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹็–พๆ‚ฃใซๅฏพใ—ใฆใ€Fontanๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Fontanๆ‰‹่ก“ใซใฏใ€ๅฟƒๆˆฟใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใ‚„ใ€ไธŠๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ€ไธ‹ๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใชใฉใŒใ‚ใ‚‹ใ€‚Fontan่ก“ๅพŒใ€ไธปใซ้ ้š”ๆœŸใซใ€ไธๆ•ด่„ˆใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€่ก€ๆ “ๅกžๆ “็—‡ใ€่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ€ๅฟƒไธๅ…จใ€่‚บ้ซ˜่ก€ๅœงใ€่‚็กฌๅค‰ใ€่‚ใŒใ‚“ใ€่…Žไธๅ…จใชใฉๅ…จ่บซใฎ่‡“ๅ™จไธๅ…จใ‚’ใใŸใ™็—‡ๅ€™็พคใ€‚ๆ นๆœฌๆฒป็™‚ใŒ็„กใ„ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200311 + Post-Fontan syndrome + ใตใ‰ใ‚“ใŸใ‚“ใ˜ใ‚…ใคใ”ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค - + Fontan่ก“ๅพŒ็—‡ๅ€™็พค ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค - - 5 - ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ - 2200312 - + + 5 + ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200312 + Congenital hypopituitarism + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 4 - ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ - 2200313 - + + 4 + ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200313 + Acquired hypopituitarism + ใ“ใ†ใฆใ‚“ใ›ใ„ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 6 - ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใฏ๏ผŒ้ชจ็ซฏ่ปŸ้ชจ็ทšใŒ้–‰้Ž–ใ™ใ‚‹ๅ‰ใซ็™บ็—‡ใ—ใ€ไธปใซไธ‹ๅž‚ไฝ“ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)็”ฃ็”Ÿ่…บ่…ซใซใ‚ˆใ‚‹้ซ˜่บซ้•ท็—‡ใงใ‚ใ‚‹๏ผŽ้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซ็™บ็—‡ใ—ใŸๅ ดๅˆใซใฏ๏ผŒๅ…ˆ็ซฏๅทจๅคง็—‡ใจใชใ‚‹๏ผŽๅ…ˆ็ซฏๅทจๅคง็—‡ใจใฎ้•ใ„ใฏ๏ผŒๅฐๅ…ๆœŸใซใŠใ„ใฆใฏๅ‰ฏ็—‡ๅ€™ใŒ่‘—ๆ˜Žใงใฏใชใ๏ผŒ่บซ้•ท็™บ่‚ฒใŒ็ฎธๆ˜Žใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹๏ผŽ - 2200314 - + + 6 + ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใฏ๏ผŒ้ชจ็ซฏ่ปŸ้ชจ็ทšใŒ้–‰้Ž–ใ™ใ‚‹ๅ‰ใซ็™บ็—‡ใ—ใ€ไธปใซไธ‹ๅž‚ไฝ“ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)็”ฃ็”Ÿ่…บ่…ซใซใ‚ˆใ‚‹้ซ˜่บซ้•ท็—‡ใงใ‚ใ‚‹๏ผŽ้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซ็™บ็—‡ใ—ใŸๅ ดๅˆใซใฏ๏ผŒๅ…ˆ็ซฏๅทจๅคง็—‡ใจใชใ‚‹๏ผŽๅ…ˆ็ซฏๅทจๅคง็—‡ใจใฎ้•ใ„ใฏ๏ผŒๅฐๅ…ๆœŸใซใŠใ„ใฆใฏๅ‰ฏ็—‡ๅ€™ใŒ่‘—ๆ˜Žใงใฏใชใ๏ผŒ่บซ้•ท็™บ่‚ฒใŒ็ฎธๆ˜Žใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹๏ผŽ + NANDO:2200314 + Pituitary gigantism + ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใใ‚‡ใ˜ใ‚“ใ—ใ‚‡ใ† ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ - + ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ - - 55 - ๅ…ˆ็ซฏๅทจๅคง็—‡(acromegaly)ใฏใ€้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ใŒ้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽๆ‰‹่ถณๆœซ็ซฏใฎ่‚ฅๅคงใ‚„้ก”่ฒŒใฎๅค‰ๅŒ–ใซๅŠ ใˆใฆ๏ผŒ็ณ–ๅฐฟ็—…ใชใฉใฎไปฃ่ฌ็•ฐๅธธ๏ผŒๅฟƒ่‚ฅๅคงใ‚„ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใชใฉใฎๅพช็’ฐๅ™จใ‚„ๅ‘ผๅธๅ™จๅˆไฝต็—‡๏ผŒๆ›ดใซ่…ซ็˜ใฎ็™บ่‚ฒใ‚’ไฟƒ้€ฒใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ ๆณจ๏ผš้ชจ็ซฏ็ทš้–‰้Ž–ๅ‰ใซGHใฎ้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใšใ‚‹ใจ้ซ˜่บซ้•ทใจใชใ‚Š๏ผŒไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 2200315 - + + 55 + ๅ…ˆ็ซฏๅทจๅคง็—‡(acromegaly)ใฏใ€้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ใŒ้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽๆ‰‹่ถณๆœซ็ซฏใฎ่‚ฅๅคงใ‚„้ก”่ฒŒใฎๅค‰ๅŒ–ใซๅŠ ใˆใฆ๏ผŒ็ณ–ๅฐฟ็—…ใชใฉใฎไปฃ่ฌ็•ฐๅธธ๏ผŒๅฟƒ่‚ฅๅคงใ‚„ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใชใฉใฎๅพช็’ฐๅ™จใ‚„ๅ‘ผๅธๅ™จๅˆไฝต็—‡๏ผŒๆ›ดใซ่…ซ็˜ใฎ็™บ่‚ฒใ‚’ไฟƒ้€ฒใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ ๆณจ๏ผš้ชจ็ซฏ็ทš้–‰้Ž–ๅ‰ใซGHใฎ้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใšใ‚‹ใจ้ซ˜่บซ้•ทใจใชใ‚Š๏ผŒไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200315 + Acromegaly + ใ›ใ‚“ใŸใ‚“ใใ‚‡ใ ใ„ใ—ใ‚‡ใ† ๅ…ˆ็ซฏๅทจๅคง็—‡ - + ๅ…ˆ็ซฏๅทจๅคง็—‡ - - 45 - ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ ญ่“‹็…งๅฐ„ใฎๆ—ขๅพ€๏ผŒ้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œ้ ญ้ƒจMRIๆคœๆŸปใงไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งGHDใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใ๏ผ‰ใง่ฟฐในใ‚‹ใ€‚ - 2200316 - - Growth hormone deficiency - ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ + + 45 + ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ ญ่“‹็…งๅฐ„ใฎๆ—ขๅพ€๏ผŒ้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œ้ ญ้ƒจMRIๆคœๆŸปใงไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งGHDใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใ๏ผ‰ใง่ฟฐในใ‚‹ใ€‚ + NANDO:2200316 + + Growth hormone deficiency caused by cerebral organic disorders + ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฎใ†ใฎใใ—ใคใฆใใ’ใ‚“ใ„ใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใŒใŽใ‚‹ใ€‚๏ผ‰ + ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ - - GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - - - 45 - 2200317 - + + GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ + ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ + + + 45 + NANDO:2200317 + congenital growth hormone deficiency + ใใ—ใคใฆใใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ† ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - + ๅ™จ่ณช็š„GHD + ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - - 46 - ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ€้ ญ้ƒจMRIๆคœๆŸปใง๏ผŒไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹๏ผ‰ใซๅซใพใ‚Œใ‚‹ใ€‚ - 2200318 - - Growth hormone deficiency - ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ + + 46 + ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ€้ ญ้ƒจMRIๆคœๆŸปใง๏ผŒไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹๏ผ‰ใซๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200318 + + Growth hormone deficiency not caused by cerebral organic disorders + ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฎใ†ใฎใใ—ใคใฆใใ’ใ‚“ใ„ใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰ + ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ - - GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - - - 46 - 2200319 - + + GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ + ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰ + + + 46 + NANDO:2200319 + Idiopathic growth hormone deficiency + ใจใใฏใคใ›ใ„ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ† ็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - + ็‰น็™บๆ€งGHD ็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡ - - 43 - ๆˆ้•ทใƒ›ใƒซใƒขใƒณ๏ผˆGH๏ผ‰ใฎไฝœ็”จใ‚’ไปฒไป‹ใ™ใ‚‹ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1(IGF1)๏ผˆๅพ“ๆฅใฏใ‚ฝใƒžใƒˆใƒกใ‚ธใƒณC๏ผ‰ใฎๅ—ๅฎนไฝ“ใ‚ใ‚‹ใ„ใฏใใ‚Œไปฅ้™ใฎ้šœๅฎณใซใ‚ˆใ‚Šใ€่ƒŽๅ†…็™บ่‚ฒ้…ๅปถใจไฝŽ่บซ้•ทใ‚’ใใŸใ™็–พๆ‚ฃใ€‚ - 2200320 - + + 43 + ๆˆ้•ทใƒ›ใƒซใƒขใƒณ๏ผˆGH๏ผ‰ใฎไฝœ็”จใ‚’ไปฒไป‹ใ™ใ‚‹ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1(IGF1)๏ผˆๅพ“ๆฅใฏใ‚ฝใƒžใƒˆใƒกใ‚ธใƒณC๏ผ‰ใฎๅ—ๅฎนไฝ“ใ‚ใ‚‹ใ„ใฏใใ‚Œไปฅ้™ใฎ้šœๅฎณใซใ‚ˆใ‚Šใ€่ƒŽๅ†…็™บ่‚ฒ้…ๅปถใจไฝŽ่บซ้•ทใ‚’ใใŸใ™็–พๆ‚ฃใ€‚ + NANDO:2200320 + IGF1 insensitivity + ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‚ˆใ†ใ›ใ„ใกใ‚‡ใ†ใ„ใ‚“ใ—1ใตใŠใ†ใ—ใ‚‡ใ† ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡ + - + IGF๏ผ1ไธๅฟœ็—‡ + ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡ - - 44 - ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™ใ€ใ‚ใ‚‹ใ„ใฏGHๆŠตๆŠ—ๆ€งใ‚’็คบใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚GHๅ—ๅฎนไฝ“ใŠใ‚ˆใณใใ‚Œไปฅ้™ใฎ็ดฐ่ƒžๅ†…ๆƒ…ๅ ฑไผ้”ๅˆ†ๅญใฎ็•ฐๅธธใŠใ‚ˆใณๅ…ˆๅคฉๆ€งIGF-I็”ฃ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใณ๏ผŒ GHใŠใ‚ˆใณGHๅ—ๅฎนไฝ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผŒๆ „้คŠไธ่‰ฏ๏ผŒ่‚็–พๆ‚ฃ๏ผŒ็ณ–ๅฐฟ็—…ใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซGHๆŠตๆŠ—ๆ€งใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆไบŒๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚1966ๅนดใซLaronใซใ‚ˆใฃใฆ๏ผŒไฝŽ่บซ้•ท๏ผŒ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚1989ๅนดใ€ๆœฌ็–พๆ‚ฃใฏGHๅ—ๅฎนไฝ“้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใใ‚‰ใ‹ใจใชใฃใŸใ€‚GHใ‚ทใ‚ฐใƒŠใƒซใŒๅๅˆ†ใซไผ้”ใ•ใ‚Œใชใ„ใŸใ‚ใ€GHๅˆ†ๆณŒไธๅ…จใจๅŒๆง˜ใฎ็‰นๅพดใ‚ใ‚‹็—‡็Šถ๏ผŒๆ‰€่ฆ‹ใ‚’็คบใ™ใ€‚Laronๅž‹ไฝŽ่บซ้•ท็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 2200321 - + + 44 + ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™ใ€ใ‚ใ‚‹ใ„ใฏGHๆŠตๆŠ—ๆ€งใ‚’็คบใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚GHๅ—ๅฎนไฝ“ใŠใ‚ˆใณใใ‚Œไปฅ้™ใฎ็ดฐ่ƒžๅ†…ๆƒ…ๅ ฑไผ้”ๅˆ†ๅญใฎ็•ฐๅธธใŠใ‚ˆใณๅ…ˆๅคฉๆ€งIGF-I็”ฃ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใณ๏ผŒ GHใŠใ‚ˆใณGHๅ—ๅฎนไฝ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผŒๆ „้คŠไธ่‰ฏ๏ผŒ่‚็–พๆ‚ฃ๏ผŒ็ณ–ๅฐฟ็—…ใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซGHๆŠตๆŠ—ๆ€งใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆไบŒๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚1966ๅนดใซLaronใซใ‚ˆใฃใฆ๏ผŒไฝŽ่บซ้•ท๏ผŒ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚1989ๅนดใ€ๆœฌ็–พๆ‚ฃใฏGHๅ—ๅฎนไฝ“้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใใ‚‰ใ‹ใจใชใฃใŸใ€‚GHใ‚ทใ‚ฐใƒŠใƒซใŒๅๅˆ†ใซไผ้”ใ•ใ‚Œใชใ„ใŸใ‚ใ€GHๅˆ†ๆณŒไธๅ…จใจๅŒๆง˜ใฎ็‰นๅพดใ‚ใ‚‹็—‡็Šถ๏ผŒๆ‰€่ฆ‹ใ‚’็คบใ™ใ€‚Laronๅž‹ไฝŽ่บซ้•ท็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200321 + Growth hormone insensitivity + ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค - - - + ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค - - 33 - ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณใฏใ€ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒ็ดฐ่ƒžใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ€่ฆ–ๅบŠไธ‹้ƒจใ‹ใ‚‰ใฎๆŠ‘ๅˆถ็š„ใช่ชฟ็ฏ€ใ‚’ใ†ใ‘ใฆใ„ใ‚‹ใ€‚้‡ๅบฆใฎ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ใฏใ€ใใฎๅคšใใŒใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซ๏ผˆใƒ—ใƒญใƒฉใ‚ฏใƒใƒŽใƒผใƒž๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ - 2200322 - - Hyperprolactinaemia + + 33 + ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณใฏใ€ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒ็ดฐ่ƒžใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ€่ฆ–ๅบŠไธ‹้ƒจใ‹ใ‚‰ใฎๆŠ‘ๅˆถ็š„ใช่ชฟ็ฏ€ใ‚’ใ†ใ‘ใฆใ„ใ‚‹ใ€‚้‡ๅบฆใฎ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ใฏใ€ใใฎๅคšใใŒใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซ๏ผˆใƒ—ใƒญใƒฉใ‚ฏใƒใƒŽใƒผใƒž๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ + NANDO:2200322 + + Hyperprolactinemia + ใ“ใ†ใทใ‚ใ‚‰ใใกใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ - + + Hyperprolactinaemia - - ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ - - 34 - ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆsyndrome of inappropriate secretion of ADH: SIADH๏ผ‰ใฏใ€ไฝŽๆตธ้€ๅœง่ก€็—‡ไธ‹ใงใ‚‚ADHใฎๅˆ†ๆณŒใŒๆŠ‘ๅˆถใ•ใ‚Œใšใ€ๆฐดๅˆฉๅฐฟไธๅ…จใ‚’็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฎใ†ใกใ€ไฝ“ๅ†…ใƒŠใƒˆใƒชใ‚ฆใƒ ้‡ใซๅค‰ๅ‹•ใฎ็„กใ„ใ€็จ€้‡ˆๆ€งใฎไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚ - 2200323 - + + 34 + ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆsyndrome of inappropriate secretion of ADH: SIADH๏ผ‰ใฏใ€ไฝŽๆตธ้€ๅœง่ก€็—‡ไธ‹ใงใ‚‚ADHใฎๅˆ†ๆณŒใŒๆŠ‘ๅˆถใ•ใ‚Œใšใ€ๆฐดๅˆฉๅฐฟไธๅ…จใ‚’็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฎใ†ใกใ€ไฝ“ๅ†…ใƒŠใƒˆใƒชใ‚ฆใƒ ้‡ใซๅค‰ๅ‹•ใฎ็„กใ„ใ€็จ€้‡ˆๆ€งใฎไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚ + NANDO:2200323 + Syndrome of inappropriate secretion of antidiuretic hormone + ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค + - - ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค + + ADHๅˆ†ๆณŒไบข้€ฒ็—‡ + SIADH + ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡ ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค - - 75 - ไธ‹ๅž‚ไฝ“ๅพŒ่‘‰ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹arginine vasopressin (AVP) ใฎๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚Šใ€่…Ž้›†ๅˆ็ฎกใงใฎๆฐดๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ€ไฝŽๆตธ้€ๅœงๅฐฟใŒๅคš้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ - 2200324 - + + 75 + ไธ‹ๅž‚ไฝ“ๅพŒ่‘‰ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹arginine vasopressin (AVP) ใฎๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚Šใ€่…Ž้›†ๅˆ็ฎกใงใฎๆฐดๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ€ไฝŽๆตธ้€ๅœงๅฐฟใŒๅคš้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200324 + Central diabetes insipidus + ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† ไธญๆžขๆ€งๅฐฟๅดฉ็—‡ - + - - + ไธญๆžขๆ€งๅฐฟๅดฉ็—‡ - - 73 - ้€šๅธธใ€่ก€ๆธ…ใพใŸใฏ่ก€ๆผฟไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏใฉใฎๅนดไปฃใซใŠใ„ใฆใ‚‚135ใ€œ145mEq/lใซใ‚ณใƒณใƒˆใƒญใƒผใƒซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏ่ก€ๆถฒใฎๆตธ้€ๅœงใ‚’ไธ€ๅฎšใซไฟใคใฎใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใŸใ‚ใ€่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚Œใฐๅฃๆธ‡ไธญๆžขใŒๅƒใใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซ้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‹ใ€‚่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ€็‰นใซๆญฃไธญๅฅ‡ๅฝขใ‚„่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚Šๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒ่ตทใ“ใ‚‹ใจใ€้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‰ใชใ„ใŸใ‚ใซ้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅบƒ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจๅ‘ผใถใ€‚ใ•ใ‚‰ใซ็‹ญ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฏใ€ๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒใ‚ใ‚‹ใ“ใจใซๅŠ ใˆใ€ๆ˜Žใ‚‰ใ‹ใชๆฐดๅˆ†ๆ‘‚ๅ–ไธๅ…จใŒใชใใฆใ‚‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๅ€คใฎๅค‰ๅ‹•ใ‚’่ฆ‹ใ‚‹ใ‚‚ใฎใงใ€ๅŒไธ€ใฎ็—‡ไพ‹ใงไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚‚ไฝต็™บใ—ใ†ใ‚‹ใ€‚็—…ๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ๅˆฉๅฐฟใƒšใƒ—ใƒใƒ‰ใ‚„ๆœช็Ÿฅใฎๅ› ๅญใฎไฝœ็”จใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200325 - + + 73 + ้€šๅธธใ€่ก€ๆธ…ใพใŸใฏ่ก€ๆผฟไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏใฉใฎๅนดไปฃใซใŠใ„ใฆใ‚‚135ใ€œ145mEq/lใซใ‚ณใƒณใƒˆใƒญใƒผใƒซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏ่ก€ๆถฒใฎๆตธ้€ๅœงใ‚’ไธ€ๅฎšใซไฟใคใฎใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใŸใ‚ใ€่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚Œใฐๅฃๆธ‡ไธญๆžขใŒๅƒใใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซ้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‹ใ€‚่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ€็‰นใซๆญฃไธญๅฅ‡ๅฝขใ‚„่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚Šๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒ่ตทใ“ใ‚‹ใจใ€้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‰ใชใ„ใŸใ‚ใซ้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅบƒ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจๅ‘ผใถใ€‚ใ•ใ‚‰ใซ็‹ญ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฏใ€ๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒใ‚ใ‚‹ใ“ใจใซๅŠ ใˆใ€ๆ˜Žใ‚‰ใ‹ใชๆฐดๅˆ†ๆ‘‚ๅ–ไธๅ…จใŒใชใใฆใ‚‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๅ€คใฎๅค‰ๅ‹•ใ‚’่ฆ‹ใ‚‹ใ‚‚ใฎใงใ€ๅŒไธ€ใฎ็—‡ไพ‹ใงไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚‚ไฝต็™บใ—ใ†ใ‚‹ใ€‚็—…ๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ๅˆฉๅฐฟใƒšใƒ—ใƒใƒ‰ใ‚„ๆœช็Ÿฅใฎๅ› ๅญใฎไฝœ็”จใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200325 + + Adipsic hypernatremia + ใ“ใ†ใ‹ใคใกใ‚…ใ†ใ™ใ†ใ—ใ‚‡ใ†ใŒใ„ใ‚’ใจใ‚‚ใชใ†ใ“ใ†ใชใจใ‚Šใ†ใ‚€ใ‘ใฃใ—ใ‚‡ใ† ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ - + + Adipsic hypernatraemia + Essential hypernatremia ๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ - - - 74 - ่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ - 2200326 - + ็„ก้ฃฒ็—‡ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ + + ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ + + + 74 + ่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ + NANDO:2200326 + Nephrogenic diabetes insipidus + ใ˜ใ‚“ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† ่…Žๆ€งๅฐฟๅดฉ็—‡ - + ่…Žๆ€งๅฐฟๅดฉ็—‡ - - 67 - ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃ็ฝนๆ‚ฃๆ™‚ใ‚ใ‚‹ใ„ใฏ็ฝนๆ‚ฃๅพŒใซใ€ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’ๆฅใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎไธปใŸใ‚‹็—…ๅ› ใจใ—ใฆใ€ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆSIADH๏ผ‰ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚SIADHใงใฏใ€ADHใŒไธ้ฉๅˆ‡ใซๅคšใๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๆฐดๅˆ†่ฒฏ็•™ใ‚’ๆฅใ™ใ€‚ไธ€ๆ–นใ€ๅฐฟไธญใฎๅกฉๆŽ’ๆณ„ใŒไบข้€ฒใ—ใ€็ดฐ่ƒžๅค–ๆถฒใŒๆธ›ๅฐ‘ใ—ใฆไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจ่„ฑๆฐด็—‡ใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใ‚’ใ€ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค๏ผˆCSW๏ผ‰ใจๅ‘ผใณใ€SIADHใจๅŒบๅˆฅใ—ใฆใ„ใ‚‹ใ€‚ใ€€SIADHใงใ‚‚ใ€่ฒฏ็•™ใ—ใŸๆฐดๅˆ†ใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ—ใฆใ€ๅฐฟไธญNaๆŽ’ๆณ„ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚SIADHใฎ่จบๆ–ญใซใ€ๅฐฟไธญNaใŒ20 mEq/lใŒๅซใพใ‚Œใฆใ„ใ‚‹ใฎใฏใ“ใฎใŸใ‚ใงใ‚ใ‚‹ใ€‚CSWใฏSIADHใซใŠใ‘ใ‚‹NaๆŽ’ๆณ„ใŒใ•ใ‚‰ใซไบข้€ฒใ—ใ€ๅคง้‡ใฎNaใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ™ใ‚‹ใŸใ‚ใซไฝŽNaใŒๆ‚ชๅŒ–ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€SIADHใฎๅปถ้•ทไธŠใซใ‚ใ‚‹็—…ๆ…‹ใงใ‚ใ‚Š็‹ฌ็ซ‹ใ—ใŸ็—…ๆ…‹ใงใฏ็„กใ„ใ€ใจใ„ใ†่€ƒใˆๆ–นใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ไฝ“ๆถฒ้‡ใซใคใ„ใฆใฏๆฐดๅˆ†้Žๅ‰ฐใงใ‚ใ‚‹ใ‹ใ€่„ฑๆฐดใงใ‚ใ‚‹ใ‹ใจใ„ใ†้€†ใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€ๆฒป็™‚ๆณ•ใ‚‚็•ฐใชใ‚‹ใŸใ‚ใ€ไบŒใคใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใŒ่‡จๅบŠไธŠใฏใ‚ใ‹ใ‚Šใ‚„ใ™ใ„ใ€‚ - 2200327 - + + 67 + ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃ็ฝนๆ‚ฃๆ™‚ใ‚ใ‚‹ใ„ใฏ็ฝนๆ‚ฃๅพŒใซใ€ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’ๆฅใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎไธปใŸใ‚‹็—…ๅ› ใจใ—ใฆใ€ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆSIADH๏ผ‰ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚SIADHใงใฏใ€ADHใŒไธ้ฉๅˆ‡ใซๅคšใๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๆฐดๅˆ†่ฒฏ็•™ใ‚’ๆฅใ™ใ€‚ไธ€ๆ–นใ€ๅฐฟไธญใฎๅกฉๆŽ’ๆณ„ใŒไบข้€ฒใ—ใ€็ดฐ่ƒžๅค–ๆถฒใŒๆธ›ๅฐ‘ใ—ใฆไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจ่„ฑๆฐด็—‡ใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใ‚’ใ€ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค๏ผˆCSW๏ผ‰ใจๅ‘ผใณใ€SIADHใจๅŒบๅˆฅใ—ใฆใ„ใ‚‹ใ€‚ใ€€SIADHใงใ‚‚ใ€่ฒฏ็•™ใ—ใŸๆฐดๅˆ†ใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ—ใฆใ€ๅฐฟไธญNaๆŽ’ๆณ„ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚SIADHใฎ่จบๆ–ญใซใ€ๅฐฟไธญNaใŒ20 mEq/lใŒๅซใพใ‚Œใฆใ„ใ‚‹ใฎใฏใ“ใฎใŸใ‚ใงใ‚ใ‚‹ใ€‚CSWใฏSIADHใซใŠใ‘ใ‚‹NaๆŽ’ๆณ„ใŒใ•ใ‚‰ใซไบข้€ฒใ—ใ€ๅคง้‡ใฎNaใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ™ใ‚‹ใŸใ‚ใซไฝŽNaใŒๆ‚ชๅŒ–ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€SIADHใฎๅปถ้•ทไธŠใซใ‚ใ‚‹็—…ๆ…‹ใงใ‚ใ‚Š็‹ฌ็ซ‹ใ—ใŸ็—…ๆ…‹ใงใฏ็„กใ„ใ€ใจใ„ใ†่€ƒใˆๆ–นใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ไฝ“ๆถฒ้‡ใซใคใ„ใฆใฏๆฐดๅˆ†้Žๅ‰ฐใงใ‚ใ‚‹ใ‹ใ€่„ฑๆฐดใงใ‚ใ‚‹ใ‹ใจใ„ใ†้€†ใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€ๆฒป็™‚ๆณ•ใ‚‚็•ฐใชใ‚‹ใŸใ‚ใ€ไบŒใคใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใŒ่‡จๅบŠไธŠใฏใ‚ใ‹ใ‚Šใ‚„ใ™ใ„ใ€‚ + NANDO:2200327 + Cerebral salt wasting syndrome + ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใˆใ‚“ใใ†ใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค - + ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค - - 24 - ็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใƒใ‚ปใƒ‰ใ‚ฆใฏใ“ใฎ็—…ๆฐ—ใ‚’็ ”็ฉถๅ ฑๅ‘Šใ—ใŸใƒ‰ใ‚คใƒ„ไบบๅŒปๅธซใฎๅใงใ€่‹ฑ่ชžๅœใงใฏใ‚‚ใ†ไธ€ไบบใฎ็ ”็ฉถ่€…ใงใ‚ใ‚‹ใ‚คใ‚ฎใƒชใ‚นไบบๅŒปๅธซใฎๅใ‹ใ‚‰Gravesโ€™diseaseใจ็งฐใ™ใ‚‹ใ€‚ - 2200328 - + + 24 + ็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใƒใ‚ปใƒ‰ใ‚ฆใฏใ“ใฎ็—…ๆฐ—ใ‚’็ ”็ฉถๅ ฑๅ‘Šใ—ใŸใƒ‰ใ‚คใƒ„ไบบๅŒปๅธซใฎๅใงใ€่‹ฑ่ชžๅœใงใฏใ‚‚ใ†ไธ€ไบบใฎ็ ”็ฉถ่€…ใงใ‚ใ‚‹ใ‚คใ‚ฎใƒชใ‚นไบบๅŒปๅธซใฎๅใ‹ใ‚‰Gravesโ€™diseaseใจ็งฐใ™ใ‚‹ใ€‚ + NANDO:2200328 + Basedow disease + ใฐใ›ใฉใ†ใณใ‚‡ใ† ใƒใ‚ปใƒ‰ใ‚ฆ็—… - + Basedow็—… Graves' disease ใƒใ‚ปใƒ‰ใ‚ฆ็—… - - 23 - ็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใใ‚Œไปฅๅค–ใฎๅŽŸๅ› ใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚ - 2200329 - + + 23 + ็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใใ‚Œไปฅๅค–ใฎๅŽŸๅ› ใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200329 + Hyperthyroidism + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - + ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - - 28 - ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ‹ๆญฃๆ‰€ๆ€งใงใฏใ‚ใ‚‹ใŒๅฝขๆˆไธๅ…จ๏ผˆ็‰‡่‘‰ๆ€งใ‚‚ๅซใ‚€๏ผ‰ใฎใŸใ‚ใ€ไฝ“ๅ†…ใฎ็”ฒ็Šถ่…บ็ดฐ่ƒžใŒๅๅˆ†้‡ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใ‚’็”ฃ็”Ÿใงใใชใ„ใ“ใจใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ€ๆฌ ๆๆ€งใ‚ใ‚‹ใ„ใฏๅฝขๆˆไธๅ…จใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ - 2200330 - + + 28 + ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ‹ๆญฃๆ‰€ๆ€งใงใฏใ‚ใ‚‹ใŒๅฝขๆˆไธๅ…จ๏ผˆ็‰‡่‘‰ๆ€งใ‚‚ๅซใ‚€๏ผ‰ใฎใŸใ‚ใ€ไฝ“ๅ†…ใฎ็”ฒ็Šถ่…บ็ดฐ่ƒžใŒๅๅˆ†้‡ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใ‚’็”ฃ็”Ÿใงใใชใ„ใ“ใจใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ€ๆฌ ๆๆ€งใ‚ใ‚‹ใ„ใฏๅฝขๆˆไธๅ…จใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200330 + Ectoic thyroid + ใ„ใ—ใ‚‡ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ ็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ - + + ็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ - - 30 - ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚็„ก็”ฒ็Šถ่…บ็—‡ใฏใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใฎไธ€ๅˆ†้กžใงใ‚ใ‚Šใ€่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹็”ฒ็Šถ่…บๅŽŸๅŸบใฎ็™บ็”Ÿ้Ž็จ‹ใซใชใ‚“ใ‚‰ใ‹ใฎ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใซใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใŸใ‚‚ใฎใ€‚็„กๅฝขๆˆใ€็”ฒ็Šถ่…บๆฌ ๆใชใฉใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚ - 2200331 - + + 30 + ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚็„ก็”ฒ็Šถ่…บ็—‡ใฏใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใฎไธ€ๅˆ†้กžใงใ‚ใ‚Šใ€่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹็”ฒ็Šถ่…บๅŽŸๅŸบใฎ็™บ็”Ÿ้Ž็จ‹ใซใชใ‚“ใ‚‰ใ‹ใฎ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใซใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใŸใ‚‚ใฎใ€‚็„กๅฝขๆˆใ€็”ฒ็Šถ่…บๆฌ ๆใชใฉใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚ + NANDO:2200331 + Thyroid agenesis + ใ‚€ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใ† ็„ก็”ฒ็Šถ่…บ็—‡ - - + athyreosis - ็„ก็”ฒ็Šถ่…บ็—‡ - - 29 - ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ไธญๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผณ๏ผจ๏ผ‰ใซใ‚ˆใ‚‹ๅˆบๆฟ€ใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใ€็”ฒ็Šถ่…บ่‡ชไฝ“ใฏๆญฃๅธธใงใ‚ใฃใฆใ‚‚ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่งฃๅ‰–ๅญฆ็š„ใ€ๆฉŸ่ƒฝ็š„้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅพ“ๆฅใ€ไธ‹ๅž‚ไฝ“ใซ้šœๅฎณใŒใ‚ใฃใฆ๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใซ็”Ÿใ˜ใ‚‹ไธ‹ๅž‚ไฝ“ๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚‹็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ้Š้›ขใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผฒ๏ผจ๏ผ‰ไฝŽไธ‹ใŒ้–“ๆŽฅ็š„ใซ๏ผด๏ผณ๏ผจๅˆ†ๆณŒไฝŽไธ‹ใ‚’ๆฅใ™่ฆ–ๅบŠไธ‹้ƒจๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใฆใ„ใŸใ€‚ใ—ใ‹ใ—ใ€ๅ‰่€…ใงใฏ๏ผด๏ผฒ๏ผจ่ฉฆ้จ“ใซใ‚ˆใ‚‹๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใ€ๅพŒ่€…ใงใฏ้Žๅคงๅๅฟœใ‚’็คบใ™ใจใ„ใ†ใ€ใ“ใ‚Œใพใงใฎ่€ƒใˆๆ–นใงใฏ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ไธก่€…ใฎ๏ผด๏ผณ๏ผจๅˆ†ๆณŒๅๅฟœใซ้‡ใชใ‚ŠใŒใ‚ใ‚‹ใ“ใจใ€ใพใŸ๏ผด๏ผณ๏ผจใฎ้‡็š„ไฝŽไธ‹ใ ใ‘ใงใชใ็”Ÿ็‰ฉๅญฆ็š„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ‚‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใชใฉใ‹ใ‚‰ใ€ไธก่€…ใ‚’ๅŒบๅˆ†ใ›ใšใซไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆTSH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹็—‡ใฏไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒ็พฉใงใ‚ใ‚‹ใ€‚ - 2200332 - + + 29 + ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ไธญๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผณ๏ผจ๏ผ‰ใซใ‚ˆใ‚‹ๅˆบๆฟ€ใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใ€็”ฒ็Šถ่…บ่‡ชไฝ“ใฏๆญฃๅธธใงใ‚ใฃใฆใ‚‚ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่งฃๅ‰–ๅญฆ็š„ใ€ๆฉŸ่ƒฝ็š„้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅพ“ๆฅใ€ไธ‹ๅž‚ไฝ“ใซ้šœๅฎณใŒใ‚ใฃใฆ๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใซ็”Ÿใ˜ใ‚‹ไธ‹ๅž‚ไฝ“ๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚‹็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ้Š้›ขใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผฒ๏ผจ๏ผ‰ไฝŽไธ‹ใŒ้–“ๆŽฅ็š„ใซ๏ผด๏ผณ๏ผจๅˆ†ๆณŒไฝŽไธ‹ใ‚’ๆฅใ™่ฆ–ๅบŠไธ‹้ƒจๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใฆใ„ใŸใ€‚ใ—ใ‹ใ—ใ€ๅ‰่€…ใงใฏ๏ผด๏ผฒ๏ผจ่ฉฆ้จ“ใซใ‚ˆใ‚‹๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใ€ๅพŒ่€…ใงใฏ้Žๅคงๅๅฟœใ‚’็คบใ™ใจใ„ใ†ใ€ใ“ใ‚Œใพใงใฎ่€ƒใˆๆ–นใงใฏ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ไธก่€…ใฎ๏ผด๏ผณ๏ผจๅˆ†ๆณŒๅๅฟœใซ้‡ใชใ‚ŠใŒใ‚ใ‚‹ใ“ใจใ€ใพใŸ๏ผด๏ผณ๏ผจใฎ้‡็š„ไฝŽไธ‹ใ ใ‘ใงใชใ็”Ÿ็‰ฉๅญฆ็š„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ‚‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใชใฉใ‹ใ‚‰ใ€ไธก่€…ใ‚’ๅŒบๅˆ†ใ›ใšใซไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆTSH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹็—‡ใฏไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒ็พฉใงใ‚ใ‚‹ใ€‚ + NANDO:2200332 + Thyroid-stimulating hormone deficiency + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - + - + TSHๅˆ†ๆณŒไฝŽไธ‹็—‡ - ็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ - - 29 - 2200333 - + + 29 + NANDO:2200333 + congenital hypothyroidism + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 31 - ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ใ€Œ16ใ‹ใ‚‰18ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ใจใ—ใฆใฏใ€ๆฐธ็ถšๆ€งๅŽŸ็™บๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆpermanent primary congenital hypothyroidism๏ผšไปฅไธ‹ใ€ๅŽŸ็™บๆ€ง๏ผฃ๏ผจ๏ผ‰ใฎไธญใงใ€ไธ‹่จ˜ใฎ็—…ๅ› ใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽ็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธใฎใ†ใกไฝŽๅฝขๆˆใ€็‰‡่‘‰ๆฌ ๆ๏ผ’๏ผŽ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณ๏ผ“๏ผŽๆฉŸ่ƒฝๅ–ชๅคฑๅž‹TSHๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใฎๆฌ ๆ็ญ‰ใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ใ€€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ้‡่ฆใชๆง‹ๆˆ่ฆ็ด ใงใ‚ใ‚‹ใƒจใƒผใƒ‰๏ผˆใƒจใ‚ฆ็ด ๏ผ‰ใŒใ€่ก€ๆถฒไธญใ‹ใ‚‰็”ฒ็Šถ่…บๆฟพ่ƒž็ดฐ่ƒžไธญใซๅ–ใ‚Š่พผใพใ‚Œใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใจใชใฃใฆ่ก€ๆถฒไธญใซๆ”พๅ‡บใ•ใ‚Œใ‚‹ใพใงใฎไธ€้€ฃใฎ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆใƒปๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅคง้ƒจๅˆ†ใฏ้–ขไฟ‚ใ™ใ‚‹้…ต็ด ใชใฉใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ€ไธปใซๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200334 - + + 31 + ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ใ€Œ16ใ‹ใ‚‰18ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ใจใ—ใฆใฏใ€ๆฐธ็ถšๆ€งๅŽŸ็™บๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆpermanent primary congenital hypothyroidism๏ผšไปฅไธ‹ใ€ๅŽŸ็™บๆ€ง๏ผฃ๏ผจ๏ผ‰ใฎไธญใงใ€ไธ‹่จ˜ใฎ็—…ๅ› ใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽ็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธใฎใ†ใกไฝŽๅฝขๆˆใ€็‰‡่‘‰ๆฌ ๆ๏ผ’๏ผŽ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณ๏ผ“๏ผŽๆฉŸ่ƒฝๅ–ชๅคฑๅž‹TSHๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใฎๆฌ ๆ็ญ‰ใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ใ€€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ้‡่ฆใชๆง‹ๆˆ่ฆ็ด ใงใ‚ใ‚‹ใƒจใƒผใƒ‰๏ผˆใƒจใ‚ฆ็ด ๏ผ‰ใŒใ€่ก€ๆถฒไธญใ‹ใ‚‰็”ฒ็Šถ่…บๆฟพ่ƒž็ดฐ่ƒžไธญใซๅ–ใ‚Š่พผใพใ‚Œใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใจใชใฃใฆ่ก€ๆถฒไธญใซๆ”พๅ‡บใ•ใ‚Œใ‚‹ใพใงใฎไธ€้€ฃใฎ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆใƒปๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅคง้ƒจๅˆ†ใฏ้–ขไฟ‚ใ™ใ‚‹้…ต็ด ใชใฉใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ€ไธปใซๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200334 + + 17ใ‹ใ‚‰19ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† 17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - Congenital hypothyroidism - + Other Congenital hypothyroidism - - CH - - + 17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 26 - ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใฏใ€่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž(autoimmune thyroiditis)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚1912 ๅนดใซๆฉ‹ๆœฌ็ญ–ๅšๅฃซใŒ 4 ๅใฎไธญๅนดๅฅณๆ€งใฎใณใพใ‚“ๆ€ง็”ฒ็Šถ่…บ่…ซใฎ็—…็†ๆ‰€่ฆ‹ใ‚’ใƒชใƒณใƒ‘่…ซๆ€ง็”ฒ็Šถ่…บ่…ซ (struma lymphomatosa) ใจใ—ใฆ็™บ่กจใ—ใŸใฎใŒๆœ€ๅˆใงใ‚ใ‚Šใ€ใใฎ็—…็†ๅญฆ็š„็‰นๅพดใฏใ€็”ฒ็Šถ่…บๅฎŸ่ณชใธใฎใƒชใƒณใƒ‘็ƒๆตธๆฝคใจใƒชใƒณใƒ‘ๆฟพ่ƒžใฎๅฝขๆˆใ€ๆฟพ่ƒžไธŠ็šฎใฎ่Ž็ธฎใจๅฅฝ้…ธๆ€งๅค‰ๆ€งใ€้–“่ณชใฎ็ทš็ถญๅŒ–ใงใ‚ใฃใŸใ€‚ใใฎๅพŒใ€ๆ‚ฃ่€…่ก€ไธญใซๆŠ—็”ฒ็Šถ่…บ่‡ชๅทฑๆŠ—ไฝ“ใŒ่จผๆ˜Žใ•ใ‚Œใ€ๆœฌ็–พๆ‚ฃใฏ่‡ชๅทฑๅ…็–ซๅๅฟœใซใ‚ˆใ‚‹็”ฒ็Šถ่…บใฎๆ…ขๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใจๆฉ‹ๆœฌ็—…ใฏๅŒ็พฉ่ชžใจใ—ใฆไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅ›ฝ้š›็–พ็—…ๅˆ†้กž ICD10 ใงใฏๆฉ‹ๆœฌ็”ฒ็Šถ่…บ็‚Ž (Hashimotoโ€™s thyroiditis) ใจ่กจ่จ˜ใ•ใ‚Œใ€ใ“ใ‚ŒใŒๅญฆ่ก“็”จ่ชžใจใ—ใฆๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200335 - + + 26 + ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใฏใ€่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž(autoimmune thyroiditis)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚1912 ๅนดใซๆฉ‹ๆœฌ็ญ–ๅšๅฃซใŒ 4 ๅใฎไธญๅนดๅฅณๆ€งใฎใณใพใ‚“ๆ€ง็”ฒ็Šถ่…บ่…ซใฎ็—…็†ๆ‰€่ฆ‹ใ‚’ใƒชใƒณใƒ‘่…ซๆ€ง็”ฒ็Šถ่…บ่…ซ (struma lymphomatosa) ใจใ—ใฆ็™บ่กจใ—ใŸใฎใŒๆœ€ๅˆใงใ‚ใ‚Šใ€ใใฎ็—…็†ๅญฆ็š„็‰นๅพดใฏใ€็”ฒ็Šถ่…บๅฎŸ่ณชใธใฎใƒชใƒณใƒ‘็ƒๆตธๆฝคใจใƒชใƒณใƒ‘ๆฟพ่ƒžใฎๅฝขๆˆใ€ๆฟพ่ƒžไธŠ็šฎใฎ่Ž็ธฎใจๅฅฝ้…ธๆ€งๅค‰ๆ€งใ€้–“่ณชใฎ็ทš็ถญๅŒ–ใงใ‚ใฃใŸใ€‚ใใฎๅพŒใ€ๆ‚ฃ่€…่ก€ไธญใซๆŠ—็”ฒ็Šถ่…บ่‡ชๅทฑๆŠ—ไฝ“ใŒ่จผๆ˜Žใ•ใ‚Œใ€ๆœฌ็–พๆ‚ฃใฏ่‡ชๅทฑๅ…็–ซๅๅฟœใซใ‚ˆใ‚‹็”ฒ็Šถ่…บใฎๆ…ขๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใจๆฉ‹ๆœฌ็—…ใฏๅŒ็พฉ่ชžใจใ—ใฆไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅ›ฝ้š›็–พ็—…ๅˆ†้กž ICD10 ใงใฏๆฉ‹ๆœฌ็”ฒ็Šถ่…บ็‚Ž (Hashimotoโ€™s thyroiditis) ใจ่กจ่จ˜ใ•ใ‚Œใ€ใ“ใ‚ŒใŒๅญฆ่ก“็”จ่ชžใจใ—ใฆๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200335 + Hashimoto disease + ใฏใ—ใ‚‚ใจใณใ‚‡ใ† ๆฉ‹ๆœฌ็—… - + ๆฉ‹ๆœฌ็—… - - 25 - ่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Žใฏ็”ฒ็Šถ่…บ่…ซๅคงใŒใชใ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใซ้™ฅใฃใŸ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Žใงใ‚ใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚’ๆŒ‡ใ™ใ€Œ็‰น็™บๆ€ง็ฒ˜ๆถฒๆฐด่…ซใ€ใจๅŒ็พฉ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็ฒ˜ๆถฒๆฐด่…ซใฏ็šฎไธ‹ใ‚„้–“่ณชใซใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใŒๆฒˆ็€ใ—ใฆๅœง็—•ใ‚’ๆฎ‹ใ•ใชใ„ๆตฎ่…ซ(nonpitting edema)ใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ - 2200336 - + + 25 + ่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Žใฏ็”ฒ็Šถ่…บ่…ซๅคงใŒใชใ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใซ้™ฅใฃใŸ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Žใงใ‚ใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚’ๆŒ‡ใ™ใ€Œ็‰น็™บๆ€ง็ฒ˜ๆถฒๆฐด่…ซใ€ใจๅŒ็พฉ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็ฒ˜ๆถฒๆฐด่…ซใฏ็šฎไธ‹ใ‚„้–“่ณชใซใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใŒๆฒˆ็€ใ—ใฆๅœง็—•ใ‚’ๆฎ‹ใ•ใชใ„ๆตฎ่…ซ(nonpitting edema)ใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200336 + Atrophic thyroiditis + ใ„ใ—ใ‚…ใใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใˆใ‚“ ่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž - + primary myxedema ่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž - - 27 - ๅŽŸ็™บๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ - 2200337 - + + 27 + ๅŽŸ็™บๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200337 + + 21ใŠใ‚ˆใณ22ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† 21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ Other acquired hypothyroidism - + 21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 27 - 2200338 - + + 27 + NANDO:2200338 + radiation-induced hypothyroidism + ใปใ†ใ—ใ‚ƒใ›ใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 27 - 2200339 - + + 27 + NANDO:2200339 + drug-induced hypothyroidism + ใ‚„ใใ–ใ„ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 27 - 2200340 - + + 27 + NANDO:2200340 + central hypothyroidism + ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 32 - ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡(Syndrome of Resistance to Thyroid Hormone, ไปฅไธ‹RTH)ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967 ๅนดใ€Refetoff ใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ1ใ€‚ใ“ใฎใ“ใจใ‹ใ‚‰ใ€ๆœฌ็—‡ใฏโ€œใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคโ€ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๅฟœ็ญ”ๆ€งใŒๆธ›ๅผฑใ™ใ‚‹ๅŽŸๅ› ใจใ—ใฆใฏใ€โ‘  ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็ดฐ่ƒžๅ†…ใธใฎๅ–ใ‚Š่พผใฟใ€โ‘ก T4 ใ‹ใ‚‰ๆดปๆ€งๅž‹ใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹T3 ใธใฎ่ปขๆ›ใ€โ‘ข T3 ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“(TR)ใธใฎ็ตๅˆใจใ“ใ‚Œใซ็ถšใๆจ™็š„้บไผๅญใฎ่ปขๅ†™่ชฟ็ฏ€ใ€ใฎใ„ใšใ‚Œใ‹ใฎใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใŒ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ๏ผ“ ใคใฎใ‚นใƒ†ใƒƒใƒ—ใใ‚Œใžใ‚Œใฎ็•ฐๅธธ็—‡ใŒๆ—ขใซๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€ใ€Œ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๆ„Ÿๅ—ๆ€งไฝŽไธ‹็—‡ๅ€™็พคใ€ใจ็ท็งฐใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกRTHใฏใ€ใ‚นใƒ†ใƒƒใƒ—โ‘ข ใฎ้šœๅฎณใ€ใ™ใชใ‚ใกTRใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑ ๅž‹TR(TRฮฑ )ใจTRฮฒใฎ๏ผ’ ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85%ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ๆฎ‹ใ‚Š15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏใ„ใพใ ๆ˜Žใ‚‰ใ‹ใงใฏใชใ„ใŒใ€TRฮฒ้บ1ไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ๏ผˆ ้บไผๅญ็•ฐๅธธใ‚‚ๅซใ‚๏ผ‰ ใงTRฮฒๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚ŒใŸ็ตๆžœ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนด้ ƒใ‹ใ‚‰TRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ2ใ€‚ - 2200341 - + + 32 + ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡(Syndrome of Resistance to Thyroid Hormone, ไปฅไธ‹RTH)ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967 ๅนดใ€Refetoff ใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ1ใ€‚ใ“ใฎใ“ใจใ‹ใ‚‰ใ€ๆœฌ็—‡ใฏโ€œใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคโ€ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๅฟœ็ญ”ๆ€งใŒๆธ›ๅผฑใ™ใ‚‹ๅŽŸๅ› ใจใ—ใฆใฏใ€โ‘  ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็ดฐ่ƒžๅ†…ใธใฎๅ–ใ‚Š่พผใฟใ€โ‘ก T4 ใ‹ใ‚‰ๆดปๆ€งๅž‹ใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹T3 ใธใฎ่ปขๆ›ใ€โ‘ข T3 ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“(TR)ใธใฎ็ตๅˆใจใ“ใ‚Œใซ็ถšใๆจ™็š„้บไผๅญใฎ่ปขๅ†™่ชฟ็ฏ€ใ€ใฎใ„ใšใ‚Œใ‹ใฎใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใŒ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ๏ผ“ ใคใฎใ‚นใƒ†ใƒƒใƒ—ใใ‚Œใžใ‚Œใฎ็•ฐๅธธ็—‡ใŒๆ—ขใซๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€ใ€Œ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๆ„Ÿๅ—ๆ€งไฝŽไธ‹็—‡ๅ€™็พคใ€ใจ็ท็งฐใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกRTHใฏใ€ใ‚นใƒ†ใƒƒใƒ—โ‘ข ใฎ้šœๅฎณใ€ใ™ใชใ‚ใกTRใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑ ๅž‹TR(TRฮฑ )ใจTRฮฒใฎ๏ผ’ ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85%ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ๆฎ‹ใ‚Š15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏใ„ใพใ ๆ˜Žใ‚‰ใ‹ใงใฏใชใ„ใŒใ€TRฮฒ้บ1ไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ๏ผˆ ้บไผๅญ็•ฐๅธธใ‚‚ๅซใ‚๏ผ‰ ใงTRฮฒๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚ŒใŸ็ตๆžœ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนด้ ƒใ‹ใ‚‰TRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ2ใ€‚ + NANDO:2200341 + Resistance to thyroid hormone + ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ† ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ + + - + + RTH + Syndrome of Resistance to Thyroid Hormone + + ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ - - 54 - ็”ฒ็Šถ่…บๅ†…ใซ็ต็ฏ€ใฎๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ่…บ่…ซๆง˜ใซๅข—ๆฎ–ใ‚’็คบใ™้ƒจๅˆ†๏ผŒ้Žๅฝขๆˆใ‚’็คบใ™้ƒจๅˆ†๏ผŒใŠใ‚ˆใณใปใจใ‚“ใฉๆญฃๅธธใฎ้ƒจๅˆ†ใŒๆททๅœจใ™ใ‚‹๏ผŽ็—…็†ๆ‰€่ฆ‹ใจใ—ใฆใฏ๏ผŒ่‚‰็œผ็š„ใซใฏๆ•ฐๅ€‹ใฎ็ต็ฏ€ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผŽ็ต็ฏ€ใฏใ—ใฐใ—ใฐๅ‡บ่ก€๏ผŒๅฃŠๆญป๏ผŒๅšข่ƒžๅฝขๆˆ๏ผŒ็ตๅˆ็น”ๅข—็”Ÿ๏ผŒ็Ÿณ็ฐๆฒˆ็€ใชใฉใฎไบŒๆฌก็š„ๅค‰ๅŒ–ใ‚’ไผดใ†๏ผŽ - 2200342 - - Adenomatous goitre + + 54 + ็”ฒ็Šถ่…บๅ†…ใซ็ต็ฏ€ใฎๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ่…บ่…ซๆง˜ใซๅข—ๆฎ–ใ‚’็คบใ™้ƒจๅˆ†๏ผŒ้Žๅฝขๆˆใ‚’็คบใ™้ƒจๅˆ†๏ผŒใŠใ‚ˆใณใปใจใ‚“ใฉๆญฃๅธธใฎ้ƒจๅˆ†ใŒๆททๅœจใ™ใ‚‹๏ผŽ็—…็†ๆ‰€่ฆ‹ใจใ—ใฆใฏ๏ผŒ่‚‰็œผ็š„ใซใฏๆ•ฐๅ€‹ใฎ็ต็ฏ€ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผŽ็ต็ฏ€ใฏใ—ใฐใ—ใฐๅ‡บ่ก€๏ผŒๅฃŠๆญป๏ผŒๅšข่ƒžๅฝขๆˆ๏ผŒ็ตๅˆ็น”ๅข—็”Ÿ๏ผŒ็Ÿณ็ฐๆฒˆ็€ใชใฉใฎไบŒๆฌก็š„ๅค‰ๅŒ–ใ‚’ไผดใ†๏ผŽ + NANDO:2200342 + + Adenomatous goiter + ใ›ใ‚“ใ—ใ‚…ใ‚ˆใ†ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚… ่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ - + + Adenomatous goitre ่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ - - 78 - ๅŽŸ็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใฎ่‡ชๅพ‹็š„ใช้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)่ก€็—‡ใ€้ชจไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บใฎ่…บ่…ซใซใ‚ˆใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€้Žๅฝขๆˆใ€็™Œใซใ‚ˆใฃใฆใ‚‚ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚่…ŽๆฉŸ่ƒฝใŒๆญฃๅธธใง้ซ˜Ca่ก€็—‡ใจPTHใฎไธŠๆ˜‡ใจใ„ใ†ไบŒใคใฎ็Šถๆ…‹ใŒใ‚ใ‚Šใ€้ซ˜Caๅฐฟ็—‡ใŒใ‚ใ‚Œใฐใ€ๆœฌ็—‡ใฎๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚ - 2200343 - + + 78 + ๅŽŸ็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใฎ่‡ชๅพ‹็š„ใช้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)่ก€็—‡ใ€้ชจไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บใฎ่…บ่…ซใซใ‚ˆใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€้Žๅฝขๆˆใ€็™Œใซใ‚ˆใฃใฆใ‚‚ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚่…ŽๆฉŸ่ƒฝใŒๆญฃๅธธใง้ซ˜Ca่ก€็—‡ใจPTHใฎไธŠๆ˜‡ใจใ„ใ†ไบŒใคใฎ็Šถๆ…‹ใŒใ‚ใ‚Šใ€้ซ˜Caๅฐฟ็—‡ใŒใ‚ใ‚Œใฐใ€ๆœฌ็—‡ใฎๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚ + NANDO:2200343 + Hyperparathyroidism + ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - + ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ - - 80 - ๅ‰ฏ็”ฒ็Šถ่…บใฎ็™บ็”ŸใŒใชใ„ๅ ดๅˆใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใŒใ€ๆญฃๅธธใงใ‚‚ๅ‰ฏ็”ฒ็Šถ่…บใฏๅฐใ•ใใ€็”ปๅƒใงๆŒ‡ๆ‘˜ใ—ใŒใŸใใ€ๆฌ ๆใ—ใฆใ„ใ‚‹ใจ็ขบๅฎŸใซ็”ปๅƒ่จบๆ–ญใงใใชใ„ใ€‚่ก€ไธญใฎๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใŒๆธฌๅฎšๆ„Ÿๅบฆไปฅไธ‹ใซใชใ‚Šใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š่‘—ใ—ใ„ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ†ใ€‚็”ฒ็Šถ่…บๅ…จๆ‘˜ๅ‡บ่ก“ๆ™‚ใซๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๆฎ‹ๅญ˜ใ•ใ›ใชใ‘ใ‚Œใฐใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆใฎ็Šถๆ…‹ใจใชใ‚‹ใŒใ€้€šๅธธใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใฎไธ€้ƒจใ‚’็•ฐๆ‰€ๆ€งใซ็งปๆคใ™ใ‚‹ใ€‚ - 2200344 - + + 80 + ๅ‰ฏ็”ฒ็Šถ่…บใฎ็™บ็”ŸใŒใชใ„ๅ ดๅˆใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใŒใ€ๆญฃๅธธใงใ‚‚ๅ‰ฏ็”ฒ็Šถ่…บใฏๅฐใ•ใใ€็”ปๅƒใงๆŒ‡ๆ‘˜ใ—ใŒใŸใใ€ๆฌ ๆใ—ใฆใ„ใ‚‹ใจ็ขบๅฎŸใซ็”ปๅƒ่จบๆ–ญใงใใชใ„ใ€‚่ก€ไธญใฎๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใŒๆธฌๅฎšๆ„Ÿๅบฆไปฅไธ‹ใซใชใ‚Šใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š่‘—ใ—ใ„ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ†ใ€‚็”ฒ็Šถ่…บๅ…จๆ‘˜ๅ‡บ่ก“ๆ™‚ใซๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๆฎ‹ๅญ˜ใ•ใ›ใชใ‘ใ‚Œใฐใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆใฎ็Šถๆ…‹ใจใชใ‚‹ใŒใ€้€šๅธธใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใฎไธ€้ƒจใ‚’็•ฐๆ‰€ๆ€งใซ็งปๆคใ™ใ‚‹ใ€‚ + NANDO:2200344 + Parathyroid gland defect + ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡ - + ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡ - - 79 - ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใฎๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹PTHๅˆ†ๆณŒไธๅ…จๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ€ๆจ™็š„่‡“ๅ™จใฎPTHใซๅฏพใ™ใ‚‹ไธๅฟœๆ€งใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกๅŽŸๅ› ใฎไธๆ˜Žใชใ‚‚ใฎใ‚’็‰น็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚ˆใถใŒใ€่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใŸๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใŠใ‚ˆใณ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฎๆฒป็™‚ใฎใŸใ‚ใซใ€ๅ‰ฏ็”ฒ็Šถ่…บใ‚ใ‚‹ใ„ใฏๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๅซใ‚€็”ฒ็Šถ่…บใ‚’ๆ‘˜้™คใ—ใŸๅ ดๅˆใซใ€ๅŒปๅŽŸๆ€งใซๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚PTHๅˆ†ๆณŒใฏ่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚Š่ชฟ็ฏ€ใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใฎๆ„Ÿ็Ÿฅใ‚ทใ‚นใƒ†ใƒ ใฎ้Žๅบฆใฎๆ„Ÿๅ—ๆ€งใฏPTHๅˆ†ๆณŒไฝŽไธ‹ใ‚’ไผดใ„ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡้กžไผผใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200345 - + + 79 + ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใฎๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹PTHๅˆ†ๆณŒไธๅ…จๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ€ๆจ™็š„่‡“ๅ™จใฎPTHใซๅฏพใ™ใ‚‹ไธๅฟœๆ€งใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกๅŽŸๅ› ใฎไธๆ˜Žใชใ‚‚ใฎใ‚’็‰น็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚ˆใถใŒใ€่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใŸๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใŠใ‚ˆใณ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฎๆฒป็™‚ใฎใŸใ‚ใซใ€ๅ‰ฏ็”ฒ็Šถ่…บใ‚ใ‚‹ใ„ใฏๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๅซใ‚€็”ฒ็Šถ่…บใ‚’ๆ‘˜้™คใ—ใŸๅ ดๅˆใซใ€ๅŒปๅŽŸๆ€งใซๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚PTHๅˆ†ๆณŒใฏ่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚Š่ชฟ็ฏ€ใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใฎๆ„Ÿ็Ÿฅใ‚ทใ‚นใƒ†ใƒ ใฎ้Žๅบฆใฎๆ„Ÿๅ—ๆ€งใฏPTHๅˆ†ๆณŒไฝŽไธ‹ใ‚’ไผดใ„ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡้กžไผผใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200345 + Hypoparathyroidism + ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + - + ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 35 - ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค(Autoimmune polyglandular syndrome: APS)ใจใฏใ€่‡ชๅทฑๅ…็–ซๆ€งใฎ็—…ๆ…‹ใซใ‚ˆใ‚Š่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒๅ™จๅฎ˜ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎๅž‹ใซ่‡จๅบŠๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ASP Iๅž‹ใฏ,ๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ฒ˜่†œ็šฎ่†šใ‚ซใƒณใ‚ธใƒ€็—‡ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅ‰ฏ่…Žไธๅ…จ(ใ‚ขใ‚ธใ‚ฝใƒณ็—…)ใ‚’3ๅพดใจใ™ใ‚‹ใ€‚ๅˆฅ็งฐใจใ—ใฆAutoimmune polyendocrinopathy-candidiasis-ectodermal syndrome๏ผˆAPECED๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 2200346 - + + 35 + ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค(Autoimmune polyglandular syndrome: APS)ใจใฏใ€่‡ชๅทฑๅ…็–ซๆ€งใฎ็—…ๆ…‹ใซใ‚ˆใ‚Š่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒๅ™จๅฎ˜ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎๅž‹ใซ่‡จๅบŠๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ASP Iๅž‹ใฏ,ๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ฒ˜่†œ็šฎ่†šใ‚ซใƒณใ‚ธใƒ€็—‡ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅ‰ฏ่…Žไธๅ…จ(ใ‚ขใ‚ธใ‚ฝใƒณ็—…)ใ‚’3ๅพดใจใ™ใ‚‹ใ€‚ๅˆฅ็งฐใจใ—ใฆAutoimmune polyendocrinopathy-candidiasis-ectodermal syndrome๏ผˆAPECED๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200346 + Autoimmune polyendocrinopathy type 1 + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 1ใŒใŸ ่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹ - + ่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹ - - 36 - ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œ๏ผŒ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ตทๅ› ใ—ใŸๅ†…ๅˆ†ๆณŒ่…บใ‚’ๅซใ‚€่ค‡ๆ•ฐ็ต„็น”ใฎๆฉŸ่ƒฝ้šœๅฎณใฎ็‰นๅพด็š„ใช็ต„ๅˆใ›ใงๅฎš็พฉใ•ใ‚Œใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค2ๅž‹ใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡(Addison็—…)๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃ(Basedow็—…๏ผŒๆฉ‹ๆœฌ็—…)๏ผŒ1ๅž‹็ณ–ๅฐฟ็—…๏ผŒๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผŒ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผŒใ‚ปใƒชใ‚ขใƒƒใ‚ฏ็—…ใฎใ†ใก2็จฎ้กžไปฅไธŠใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใพใŸ๏ผŒ2ๅž‹ใ‚’ใ•ใ‚‰ใซไธ‰ใคใซ็ดฐๅˆ†ใ™ใ‚‹็‹ญ็พฉใฎๅˆ†้กžใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚็‹ญ็พฉใฎๅˆ†้กžใงใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใ‚„๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใชใฉใฎ่‡ชๅทฑๅ…็–ซๆ€งๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ2ๅž‹๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใซๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ไปฅๅค–ใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ3ๅž‹๏ผŒ1๏ฝž3ๅž‹ใซ่ฉฒๅฝ“ใ—ใชใ„่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹ๅ ดๅˆใซ4ๅž‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹.็—‡ๅ€™็พคๅใ‹ใ‚‰ใฏๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใซ้™ๅฎšใ•ใ‚Œใ‚‹ๅฐ่ฑกใ‚’ๅ—ใ‘ใ‚‹ใŒ๏ผŒๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ็™ฝๆ–‘๏ผŒ็ฆฟ้ ญ๏ผŒ็ดซ่†œ็‚Ž๏ผŒๆ‚ชๆ€ง่ฒง่ก€ใชใฉๅคšใใฎ้žๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ†ใ‚‹ใ€‚ๆœฌใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏๆททๅŒใ‚’้ฟใ‘ใ‚‹ใŸใ‚๏ผŒ็ตฑไธ€ใ—ใฆ็‹ญ็พฉใฎๅˆ†้กžใ‚’ไฝฟ็”จใ™ใ‚‹ใ“ใจใจใ™ใ‚‹. - 2200347 - + + 36 + ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œ๏ผŒ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ตทๅ› ใ—ใŸๅ†…ๅˆ†ๆณŒ่…บใ‚’ๅซใ‚€่ค‡ๆ•ฐ็ต„็น”ใฎๆฉŸ่ƒฝ้šœๅฎณใฎ็‰นๅพด็š„ใช็ต„ๅˆใ›ใงๅฎš็พฉใ•ใ‚Œใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค2ๅž‹ใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡(Addison็—…)๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃ(Basedow็—…๏ผŒๆฉ‹ๆœฌ็—…)๏ผŒ1ๅž‹็ณ–ๅฐฟ็—…๏ผŒๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผŒ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผŒใ‚ปใƒชใ‚ขใƒƒใ‚ฏ็—…ใฎใ†ใก2็จฎ้กžไปฅไธŠใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใพใŸ๏ผŒ2ๅž‹ใ‚’ใ•ใ‚‰ใซไธ‰ใคใซ็ดฐๅˆ†ใ™ใ‚‹็‹ญ็พฉใฎๅˆ†้กžใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚็‹ญ็พฉใฎๅˆ†้กžใงใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใ‚„๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใชใฉใฎ่‡ชๅทฑๅ…็–ซๆ€งๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ2ๅž‹๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใซๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ไปฅๅค–ใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ3ๅž‹๏ผŒ1๏ฝž3ๅž‹ใซ่ฉฒๅฝ“ใ—ใชใ„่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹ๅ ดๅˆใซ4ๅž‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹.็—‡ๅ€™็พคๅใ‹ใ‚‰ใฏๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใซ้™ๅฎšใ•ใ‚Œใ‚‹ๅฐ่ฑกใ‚’ๅ—ใ‘ใ‚‹ใŒ๏ผŒๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ็™ฝๆ–‘๏ผŒ็ฆฟ้ ญ๏ผŒ็ดซ่†œ็‚Ž๏ผŒๆ‚ชๆ€ง่ฒง่ก€ใชใฉๅคšใใฎ้žๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ†ใ‚‹ใ€‚ๆœฌใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏๆททๅŒใ‚’้ฟใ‘ใ‚‹ใŸใ‚๏ผŒ็ตฑไธ€ใ—ใฆ็‹ญ็พฉใฎๅˆ†้กžใ‚’ไฝฟ็”จใ™ใ‚‹ใ“ใจใจใ™ใ‚‹. + NANDO:2200347 + Autoimmune polyendocrinopathy type 2 + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 2ใŒใŸ ่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹ - + ่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹ - - 8 - Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใฎๅพดๅ€™ใฎ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ€ใƒชใƒณๅ€คใซ็•ฐๅธธใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃใ€‚Iaๅž‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅฎถ็ณปใฎไธญใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200348 - + + 8 + Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใฎๅพดๅ€™ใฎ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ€ใƒชใƒณๅ€คใซ็•ฐๅธธใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃใ€‚Iaๅž‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅฎถ็ณปใฎไธญใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200348 + Pseudopseudohypoparathyroidism + ใŽใ›ใ„ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 9 - ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใซๅฏพใ—ใฆๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€PTHใŒๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใŒๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’PHPIaใจๅ‘ผใถใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IbใซใŠใ„ใฆใฏใ€AHOๅพดๅ€™ใฏไผดใ‚ใšใ€PTHใฎๆŠตๆŠ—ๆ€งใฏใปใผ่…Ž่‡“ใซ้™ๅฑ€ใ—ใฆใ„ใ‚‹ใ€‚IIๅž‹ใฏใ€cAMPใฎๅๅฟœใŒใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ไฟƒ้€ฒใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—…ๅž‹ใงใ‚ใ‚‹ใŒใ€้žๅธธใซ็จ€ใงใ‚ใ‚Šใ€ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ - 2200349 - + + 9 + ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใซๅฏพใ—ใฆๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€PTHใŒๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใŒๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’PHPIaใจๅ‘ผใถใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IbใซใŠใ„ใฆใฏใ€AHOๅพดๅ€™ใฏไผดใ‚ใšใ€PTHใฎๆŠตๆŠ—ๆ€งใฏใปใผ่…Ž่‡“ใซ้™ๅฑ€ใ—ใฆใ„ใ‚‹ใ€‚IIๅž‹ใฏใ€cAMPใฎๅๅฟœใŒใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ไฟƒ้€ฒใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—…ๅž‹ใงใ‚ใ‚‹ใŒใ€้žๅธธใซ็จ€ใงใ‚ใ‚Šใ€ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ + NANDO:2200349 + Pseudohypoparathyroidism + ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + - + ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 11 - ่ฆ–ๅบŠไธ‹้ƒจๅฎคๅ‚ๆ ธใง็”ฃ็”Ÿใ•ใ‚Œใ‚‹CRHใฏไธ‹ๅž‚ไฝ“้–€่„ˆใ‚’็ตŒใฆไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซ่‡ณใ‚Šใ€ACTH็ดฐ่ƒžใซๅƒใ„ใฆACTHใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ACTHใฏๅ…จ่บซใซๅˆ†ๆณŒใ•ใ‚Œๅ‰ฏ่…Ž็šฎ่ณชใซไฝœ็”จใ—ใฆใ‚ณใƒซใƒใ‚พใƒผใƒซใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒใ™ใ€‚ๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ่ก€ไธญใ‚ณใƒซใƒใ‚พใƒผใƒซใฏ่ฆ–ๅบŠไธ‹้ƒจ๏ผไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซไฝœ็”จใ—CRHใจACTHใฎๅˆ†ๆณŒใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ใƒใ‚ฌใƒ†ใ‚ฃใƒ–ใƒ•ใ‚ฃใƒผใƒ‰ใƒใƒƒใ‚ฏใจใ„ใ†ใ€‚ๅ‰ฏ่…Žใ‹ใ‚‰ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๆ…ขๆ€ง็š„ใซๅˆ†ๆณŒ้Žๅ‰ฐใซใชใ‚Šใ€็‰น็•ฐ็š„ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ‚’ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใฎๅ ดๅˆACTHๅˆ†ๆณŒใŒ้Žๅ‰ฐใจใชใ‚ŠไบŒๆฌก็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๅข—ๅŠ ใ™ใ‚‹ๅ ดๅˆใ‚’ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ„ใ€ๅ‰ฏ่…Žใ‹ใ‚‰่‡ชๅพ‹็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚’ACTH้žไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใพใŸใฏๅ‰ฏ่…Žๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซใฏใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTHใŒ่‡ชๅพ‹็š„ใซ้Žๅ‰ฐๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ่…ซ็˜ใ‹ใ‚‰ACTHใŒ้Žๅ‰ฐใซ็”ฃ็”Ÿใƒปๅˆ†ๆณŒใ•ใ‚Œใ‚‹็•ฐๆ‰€ๆ€งACTH็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใซใ›ใ‚ˆใ€่ฆ–ๅบŠไธ‹้ƒจCRHๅˆ†ๆณŒใฏๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใฏๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡ๅ€™ใ‚’็คบใ•ใšใ€ไธ‹ๅž‚ไฝ“่…ซ็˜ใŒ็–‘ใ‚ใ‚Œใ€ไบŒๆฌก็š„ใช่€็ณ–่ƒฝ็•ฐๅธธใ‚„้ซ˜่ก€ๅœงใฎ็ฒพๆŸปใฎ้€”ไธญใงACTH-ใ‚ณใƒซใƒใ‚พใƒผใƒซ็ณปใฎ่‡ชๅพ‹็š„ใชๅˆ†ๆณŒ็•ฐๅธธใŒใฟใคใ‹ใ‚‹ใ‚ตใƒ–ใ‚ฏใƒชใƒ‹ใ‚ซใƒซใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจใ„ใ†็–พๆ‚ฃๆฆ‚ๅฟตใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใฏ็—…็†ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็ตŒ้ŽใŒ้•ทๅผ•ใใจ่‡จๅบŠ็š„ใซใฏๆฒป็™‚ใŒ้›ฃใ—ใๆ‚ชๆ€งใซไผผใฆใ„ใ‚‹ใจใ„ใˆใ‚‹ใ€‚ - 2200350 - + + 11 + ่ฆ–ๅบŠไธ‹้ƒจๅฎคๅ‚ๆ ธใง็”ฃ็”Ÿใ•ใ‚Œใ‚‹CRHใฏไธ‹ๅž‚ไฝ“้–€่„ˆใ‚’็ตŒใฆไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซ่‡ณใ‚Šใ€ACTH็ดฐ่ƒžใซๅƒใ„ใฆACTHใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ACTHใฏๅ…จ่บซใซๅˆ†ๆณŒใ•ใ‚Œๅ‰ฏ่…Ž็šฎ่ณชใซไฝœ็”จใ—ใฆใ‚ณใƒซใƒใ‚พใƒผใƒซใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒใ™ใ€‚ๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ่ก€ไธญใ‚ณใƒซใƒใ‚พใƒผใƒซใฏ่ฆ–ๅบŠไธ‹้ƒจ๏ผไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซไฝœ็”จใ—CRHใจACTHใฎๅˆ†ๆณŒใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ใƒใ‚ฌใƒ†ใ‚ฃใƒ–ใƒ•ใ‚ฃใƒผใƒ‰ใƒใƒƒใ‚ฏใจใ„ใ†ใ€‚ๅ‰ฏ่…Žใ‹ใ‚‰ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๆ…ขๆ€ง็š„ใซๅˆ†ๆณŒ้Žๅ‰ฐใซใชใ‚Šใ€็‰น็•ฐ็š„ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ‚’ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใฎๅ ดๅˆACTHๅˆ†ๆณŒใŒ้Žๅ‰ฐใจใชใ‚ŠไบŒๆฌก็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๅข—ๅŠ ใ™ใ‚‹ๅ ดๅˆใ‚’ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ„ใ€ๅ‰ฏ่…Žใ‹ใ‚‰่‡ชๅพ‹็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚’ACTH้žไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใพใŸใฏๅ‰ฏ่…Žๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซใฏใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTHใŒ่‡ชๅพ‹็š„ใซ้Žๅ‰ฐๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ่…ซ็˜ใ‹ใ‚‰ACTHใŒ้Žๅ‰ฐใซ็”ฃ็”Ÿใƒปๅˆ†ๆณŒใ•ใ‚Œใ‚‹็•ฐๆ‰€ๆ€งACTH็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใซใ›ใ‚ˆใ€่ฆ–ๅบŠไธ‹้ƒจCRHๅˆ†ๆณŒใฏๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใฏๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡ๅ€™ใ‚’็คบใ•ใšใ€ไธ‹ๅž‚ไฝ“่…ซ็˜ใŒ็–‘ใ‚ใ‚Œใ€ไบŒๆฌก็š„ใช่€็ณ–่ƒฝ็•ฐๅธธใ‚„้ซ˜่ก€ๅœงใฎ็ฒพๆŸปใฎ้€”ไธญใงACTH-ใ‚ณใƒซใƒใ‚พใƒผใƒซ็ณปใฎ่‡ชๅพ‹็š„ใชๅˆ†ๆณŒ็•ฐๅธธใŒใฟใคใ‹ใ‚‹ใ‚ตใƒ–ใ‚ฏใƒชใƒ‹ใ‚ซใƒซใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจใ„ใ†็–พๆ‚ฃๆฆ‚ๅฟตใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใฏ็—…็†ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็ตŒ้ŽใŒ้•ทๅผ•ใใจ่‡จๅบŠ็š„ใซใฏๆฒป็™‚ใŒ้›ฃใ—ใๆ‚ชๆ€งใซไผผใฆใ„ใ‚‹ใจใ„ใˆใ‚‹ใ€‚ + NANDO:2200350 + Cushing disease + ใใฃใ—ใ‚“ใใณใ‚‡ใ† ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—… - + - + + Cushing's Disease Cushing็—… - - ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—… - - 10 - ้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ็ต„็น”ใซใฆACTHใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚’ๅˆบๆฟ€ใ—ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ‚’ๅผ•ใ่ถŠใ™ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ใพใ‚ŒใซACTHๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ็•ฐๅธธ(CRH)ใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200351 - + + 10 + ้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ็ต„็น”ใซใฆACTHใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚’ๅˆบๆฟ€ใ—ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ‚’ๅผ•ใ่ถŠใ™ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ใพใ‚ŒใซACTHๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ็•ฐๅธธ(CRH)ใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200351 + Ectopic ACTH syndrome + ใ„ใ—ใ‚‡ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค - - ACTH็”ฃ็”Ÿ็—‡ๅ€™็พค + + ็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พค ็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค - - 12 - ้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž่…บ่…ซใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200352 - + + 12 + ้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž่…บ่…ซใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200352 + Adrenal adenoma + ใตใใ˜ใ‚“ใ›ใ‚“ใ—ใ‚… ๅ‰ฏ่…Ž่…บ่…ซ - + ๅ‰ฏ่…Ž่…บ่…ซ - - 13 - ้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ็—‡ใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200353 - + + 13 + ้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ็—‡ใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200353 + ACTH-independent macronodular adrenal hyperplasia + ใตใใ˜ใ‚“ใฒใ—ใคใ‘ใฃใ›ใคใ›ใ„ใ‹ใ‘ใ„ใ›ใ„ ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ - - - + ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ - - 14 - ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฎใ†ใกใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใ€็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พคใ€ๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200354 - + + 14 + ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฎใ†ใกใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใ€็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พคใ€ๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200354 + + 33ใ‹ใ‚‰36ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใฃใ—ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค - Cushing syndrome - + Other Cushing syndrome - - - - + 33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค - - 83 - ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎACTHๅˆ†ๆณŒใŒใ€ไธ‹ๅž‚ไฝ“ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ใ‚‹ใ„ใฏใ•ใ‚‰ใซไธŠไฝใฎไธญๆžขใฎๅ•้กŒใซใ‚ˆใ‚Šใ€้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใ€‚ๆ…ขๆ€งใฎACTHๅˆ†ๆณŒไธๅ…จใงใฏใ€ๅ‰ฏ่…Ž็šฎ่ณชใฏ่Ž็ธฎ็Šถใจใชใ‚Šใ€ๆฉŸ่ƒฝใฎไฝŽไธ‹ใ‚’ๆ‹›ใใŸใ‚ใ€ไบŒๆฌกๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚‚ใ„ใ†ใ€‚ - 2200355 - + + 83 + ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎACTHๅˆ†ๆณŒใŒใ€ไธ‹ๅž‚ไฝ“ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ใ‚‹ใ„ใฏใ•ใ‚‰ใซไธŠไฝใฎไธญๆžขใฎๅ•้กŒใซใ‚ˆใ‚Šใ€้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใ€‚ๆ…ขๆ€งใฎACTHๅˆ†ๆณŒไธๅ…จใงใฏใ€ๅ‰ฏ่…Ž็šฎ่ณชใฏ่Ž็ธฎ็Šถใจใชใ‚Šใ€ๆฉŸ่ƒฝใฎไฝŽไธ‹ใ‚’ๆ‹›ใใŸใ‚ใ€ไบŒๆฌกๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚‚ใ„ใ†ใ€‚ + NANDO:2200355 + Isolated ACTH deficiency + ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใŸใ‚“ใฉใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡ - - + ACTHๅ˜็‹ฌๆฌ ๆ็—‡ - ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡ - - 84 - ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocortocotropin)ใฎๅˆบๆฟ€ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚ˆใ‚Š็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใ€ๅ‰ฏ่…Žไธๅ…จใ‚’่ตทใ“ใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200356 - + + 84 + ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocortocotropin)ใฎๅˆบๆฟ€ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚ˆใ‚Š็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใ€ๅ‰ฏ่…Žไธๅ…จใ‚’่ตทใ“ใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200356 + ACTH unresponsiveness + ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ† ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ + + - + ACTHไธๅฟœ็—‡ + Adrenocorticotropic hormone insensitivity + Adrenocorticotropic hormone unresponsiveness + Adrenocorticotropin unresponsiveness ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡ - - 82 - ๅ‰ฏ่…Ž็šฎ่ณชใฎ็™บ็”Ÿใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ‰ฏ่…ŽใฎไฝŽๅฝขๆˆใ‚’่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅนผๅฐๅ…ๆœŸใซๅคšใ„ใŒใ€ๅฐๅ…โ€•ๆ€ๆ˜ฅๆœŸโ€•้’ๅนดๆœŸใซใ‹ใ‘ใฆ็™บ็—‡ใ™ใ‚‹้…็™บๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ‰ฏ่…Žใฎ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ - 2200357 - + + 82 + ๅ‰ฏ่…Ž็šฎ่ณชใฎ็™บ็”Ÿใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ‰ฏ่…ŽใฎไฝŽๅฝขๆˆใ‚’่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅนผๅฐๅ…ๆœŸใซๅคšใ„ใŒใ€ๅฐๅ…โ€•ๆ€ๆ˜ฅๆœŸโ€•้’ๅนดๆœŸใซใ‹ใ‘ใฆ็™บ็—‡ใ™ใ‚‹้…็™บๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ‰ฏ่…Žใฎ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200357 + Congenital adrenal hypoplasia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ + - - + ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ - - 81 - ๆœฌ็–พๆ‚ฃใฏๆ…ขๆ€ง็š„ใช้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆบ€ๆœˆๆง˜้ก˜่ฒŒใ€ไธญๅฟƒๆ€ง่‚ฅๆบ€ใ€buffalo humpใ€็šฎ่†š็ทšๆกใชใฉใฎใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซ็‰นๅพด็š„ใชๅพดๅ€™ใ‚’ๆฌ ใ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ - 2200358 - + + 81 + ๆœฌ็–พๆ‚ฃใฏๆ…ขๆ€ง็š„ใช้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆบ€ๆœˆๆง˜้ก˜่ฒŒใ€ไธญๅฟƒๆ€ง่‚ฅๆบ€ใ€buffalo humpใ€็šฎ่†š็ทšๆกใชใฉใฎใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซ็‰นๅพด็š„ใชๅพดๅ€™ใ‚’ๆฌ ใ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200358 + Glucocorticoid resistance + ใใ‚‹ใ“ใ“ใ‚‹ใกใ“ใ„ใฉใฆใ„ใ“ใ†ใ—ใ‚‡ใ† ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡ - + ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡ - - 85 - ๅพŒๅคฉ็š„ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผ‰ใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏ1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€Addison็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œ่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจ ใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200359 - + + 85 + ๅพŒๅคฉ็š„ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผ‰ใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏ1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€Addison็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œ่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจ ใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200359 + + 38ใ‹ใ‚‰41ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† 38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ Other chronic adrenal insufficiency - + Addison disease 38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 85 - 2200360 - - Addison disease + + 85 + NANDO:2200360 + + Addison's disease + ใ‚ใ˜ใใ‚“ใณใ‚‡ใ† ใ‚ขใ‚ธใ‚ฝใƒณ็—… + - - + + Addison disease + Addison็—… ใ‚ขใ‚ธใ‚ฝใƒณ็—… - - 1 - ๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡๏ผˆprimary aldosteronism:PA๏ผ‰ใฏใ€ๅ‰ฏ่…Ž็šฎ่ณช็—…ๅค‰๏ผˆๅ‰ฏ่…Ž็šฎ่ณช่…ซ็˜ใพใŸใฏ้Žๅฝขๆˆ็—…ๅค‰๏ผ‰ใซใ‚ˆใ‚Šใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ่‡ชๅพ‹็š„้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใ˜ใŸ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้ซ˜่ก€ๅœง็—‡ไพ‹ใซใฆไฝŽใƒฌใƒ‹ใƒณๆ€ง้ซ˜ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ่ก€็—‡ใ‚’ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ™ใ‚‹ใ€‚็ขบ่ช่ฉฆ้จ“ใฎๅพŒๅ‰ฏ่…Ž็—…ๅค‰ใฎๅฑ€ๅœจ่จบๆ–ญใ‚’่กŒใ†ใ€‚PAใฎ็—…ๅž‹ๅˆ†้กžใซใฆใ€็‰‡ๅดๆ€งใ‹ไธกๅดๆ€งใซๅˆ†ใ‘ใฆ่€ƒใˆใ‚‹ใจ็†่งฃใ—ๆ˜“ใ„ใ€‚ใ™ใชใ‚ใกใ€๏ผ‘๏ผ‰็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ๅ‰ฏ่…Ž่…บ่…ซ(aldosterone producing adenoma:APA)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ(unilateral adrenal hyperplaia:UAH)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Žๅคš็™บๅพฎๅฐ็ต็ฏ€๏ผˆunilateral multiple micronodules:UMN๏ผ‰ใ€ใ€€็™Œ่…ซ(aldosterone producing carcinoma:APC)ใ€๏ผ’๏ผ‰ไธกๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ไธกๅดๅ‰ฏ่…Ž้Žๅฝขๆˆ๏ผˆidiopathic hyperaldosteronism:IHA๏ผ‰ใ€ใ€€ไธกๅดๅ‰ฏ่…Ž่…บ่…ซ๏ผˆbilateral APAs๏ผ‰ใ€ใ€€็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅๅฟœๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ (glucocorticoidใ€€suppressiveใ€€hyperaldosteronism:GSH)ใงใ‚ใ‚‹ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใงใƒŠใƒชใ‚ฆใƒ (Na)่ฒฏ็•™ใซๅ‚พใไฝ“ๆถฒๅข—ๅŠ ใซๅพ“ใฃใฆ้ซ˜่ก€ๅœงใŒ็”Ÿใ˜ใ€ๅŒๆ™‚ใซใ‚ซใƒชใ‚ฆใƒ ๏ผˆK๏ผ‰ๆŽ’ๆณ„ๅข—ๅŠ  ใซใ‚ˆใ‚‹ไฝŽK่ก€็—‡ใ€HCO๏ผ“ๅข—ๅŠ ใซใ‚ˆใ‚‹ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใ€ใใ—ใฆใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณ๏ผˆ่„ณๅ‡บ่ก€ใ€่„ณๆข—ๅกžใ€ๅฟƒ็ญ‹ๆข—ๅกžใ€ๅฟƒ่‚ฅๅคงใ€ไธๆ•ด่„ˆใ€่…Žไธๅ…จ็ญ‰๏ผ‰ใ‚’ใ‚‚ใŸใ‚‰ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰ใงใ‚ใ‚Œใฐ ใใฎๆ‘˜ๅ‡บใ‚’ใ€ไธกๅด็—…ๅค‰ใงใฏใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅ‰ค๏ผˆๆœ€่ฟ‘ใงใฏใ€ไธกๅดๅ‰ฏ่…Žใฎ้ƒจๅˆ†ๆ‘˜ๅ‡บใ‚‚่กŒใ†๏ผ‰ใ€GSHใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๅ‰คใชใฉใซใ‚ˆใ‚‹่–ฌ็‰ฉ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚ใชใŠใ€้ฃŸๅกฉๆ‘‚ๅ–้‡ใ‚„่–ฌ็‰ฉใฎๅฝฑ้Ÿฟใซใ‚ˆใ‚Šๅˆ่จบๆ™‚ใซไฝŽ๏ผซ่ก€็—‡ใ‚’็คบใ•ใชใ„็—‡ไพ‹ใ‚‚ๅคšใ„ใฎใงใ€ๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200361 - + + 1 + ๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡๏ผˆprimary aldosteronism:PA๏ผ‰ใฏใ€ๅ‰ฏ่…Ž็šฎ่ณช็—…ๅค‰๏ผˆๅ‰ฏ่…Ž็šฎ่ณช่…ซ็˜ใพใŸใฏ้Žๅฝขๆˆ็—…ๅค‰๏ผ‰ใซใ‚ˆใ‚Šใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ่‡ชๅพ‹็š„้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใ˜ใŸ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้ซ˜่ก€ๅœง็—‡ไพ‹ใซใฆไฝŽใƒฌใƒ‹ใƒณๆ€ง้ซ˜ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ่ก€็—‡ใ‚’ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ™ใ‚‹ใ€‚็ขบ่ช่ฉฆ้จ“ใฎๅพŒๅ‰ฏ่…Ž็—…ๅค‰ใฎๅฑ€ๅœจ่จบๆ–ญใ‚’่กŒใ†ใ€‚PAใฎ็—…ๅž‹ๅˆ†้กžใซใฆใ€็‰‡ๅดๆ€งใ‹ไธกๅดๆ€งใซๅˆ†ใ‘ใฆ่€ƒใˆใ‚‹ใจ็†่งฃใ—ๆ˜“ใ„ใ€‚ใ™ใชใ‚ใกใ€๏ผ‘๏ผ‰็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ๅ‰ฏ่…Ž่…บ่…ซ(aldosterone producing adenoma:APA)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ(unilateral adrenal hyperplaia:UAH)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Žๅคš็™บๅพฎๅฐ็ต็ฏ€๏ผˆunilateral multiple micronodules:UMN๏ผ‰ใ€ใ€€็™Œ่…ซ(aldosterone producing carcinoma:APC)ใ€๏ผ’๏ผ‰ไธกๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ไธกๅดๅ‰ฏ่…Ž้Žๅฝขๆˆ๏ผˆidiopathic hyperaldosteronism:IHA๏ผ‰ใ€ใ€€ไธกๅดๅ‰ฏ่…Ž่…บ่…ซ๏ผˆbilateral APAs๏ผ‰ใ€ใ€€็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅๅฟœๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ (glucocorticoidใ€€suppressiveใ€€hyperaldosteronism:GSH)ใงใ‚ใ‚‹ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใงใƒŠใƒชใ‚ฆใƒ (Na)่ฒฏ็•™ใซๅ‚พใไฝ“ๆถฒๅข—ๅŠ ใซๅพ“ใฃใฆ้ซ˜่ก€ๅœงใŒ็”Ÿใ˜ใ€ๅŒๆ™‚ใซใ‚ซใƒชใ‚ฆใƒ ๏ผˆK๏ผ‰ๆŽ’ๆณ„ๅข—ๅŠ  ใซใ‚ˆใ‚‹ไฝŽK่ก€็—‡ใ€HCO๏ผ“ๅข—ๅŠ ใซใ‚ˆใ‚‹ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใ€ใใ—ใฆใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณ๏ผˆ่„ณๅ‡บ่ก€ใ€่„ณๆข—ๅกžใ€ๅฟƒ็ญ‹ๆข—ๅกžใ€ๅฟƒ่‚ฅๅคงใ€ไธๆ•ด่„ˆใ€่…Žไธๅ…จ็ญ‰๏ผ‰ใ‚’ใ‚‚ใŸใ‚‰ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰ใงใ‚ใ‚Œใฐ ใใฎๆ‘˜ๅ‡บใ‚’ใ€ไธกๅด็—…ๅค‰ใงใฏใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅ‰ค๏ผˆๆœ€่ฟ‘ใงใฏใ€ไธกๅดๅ‰ฏ่…Žใฎ้ƒจๅˆ†ๆ‘˜ๅ‡บใ‚‚่กŒใ†๏ผ‰ใ€GSHใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๅ‰คใชใฉใซใ‚ˆใ‚‹่–ฌ็‰ฉ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚ใชใŠใ€้ฃŸๅกฉๆ‘‚ๅ–้‡ใ‚„่–ฌ็‰ฉใฎๅฝฑ้Ÿฟใซใ‚ˆใ‚Šๅˆ่จบๆ™‚ใซไฝŽ๏ผซ่ก€็—‡ใ‚’็คบใ•ใชใ„็—‡ไพ‹ใ‚‚ๅคšใ„ใฎใงใ€ๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200361 + Aldosteronism + ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - + + ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - - 86 - Apparentใ€€Mineralocorticoid Excess็—‡ๅ€™็พค(AME)ใฏ่‡จๅบŠ็š„ใซใฏไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็”Ÿ็†้‡ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅ—ๅฎนไฝ“(MR)ใซ็ตๅˆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญฆ็š„ใซ11ฮฒ hydroxysteroid dehydorgenase (HSD) type2้บไผๅญ๏ผˆHSD11B2๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ - 2200362 - + + 86 + Apparentใ€€Mineralocorticoid Excess็—‡ๅ€™็พค(AME)ใฏ่‡จๅบŠ็š„ใซใฏไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็”Ÿ็†้‡ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅ—ๅฎนไฝ“(MR)ใซ็ตๅˆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญฆ็š„ใซ11ฮฒ hydroxysteroid dehydorgenase (HSD) type2้บไผๅญ๏ผˆHSD11B2๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ + NANDO:2200362 + Apparent mineralocorticoid excess syndrome + ใฟใ‹ใ‘ใฎใ“ใ†ใ—ใคใ“ใ‚‹ใกใ“ใ„ใฉใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค - + AME syndrome AME็—‡ๅ€™็พค ่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค - - 87 - Liddle็—‡ๅ€™็พคใฏ1993ๅนดใซLiddleใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่‹ฅๅนดๆ€ง้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ€ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใŒใ€่ก€ๆผฟใƒฌใƒ‹ใƒณๆดปๆ€งใ€่ก€ๆผฟใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฏไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้ฃŸๅกฉๆ„Ÿๅ—ๆ€ง้ซ˜่ก€ๅœง็—‡ใงใ‚ใ‚‹ใ€‚ - 2200363 - + + 87 + Liddle็—‡ๅ€™็พคใฏ1993ๅนดใซLiddleใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่‹ฅๅนดๆ€ง้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ€ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใŒใ€่ก€ๆผฟใƒฌใƒ‹ใƒณๆดปๆ€งใ€่ก€ๆผฟใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฏไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้ฃŸๅกฉๆ„Ÿๅ—ๆ€ง้ซ˜่ก€ๅœง็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200363 + Liddle syndrome + ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค - - + Liddle็—‡ๅ€™็พค - ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค - - 69 - ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ไนใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ใƒฌใƒ‹ใƒณใŒไธŠๆ˜‡ใ›ใšใ€้€†ใซไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200364 - + + 69 + ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ไนใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ใƒฌใƒ‹ใƒณใŒไธŠๆ˜‡ใ›ใšใ€้€†ใซไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200364 + + Hyporeninemic hypoaldosteronism + ใฆใ„ใ‚Œใซใ‚“ใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ† ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - - - - 68 - ๆœฌ็–พๆ‚ฃใฏ๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450c18(P450aldใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹)ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒ้šœๅฎณใ‚’ใใŸใ—๏ผŒๅกฉๅ–ชๅคฑ็—‡็Šถใ‚’่ตทใ“ใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰corticosterone methyloxidase (CMO)Iๆฌ ๆ็—‡๏ผŒCMO IIๆฌ ๆ็—‡ใจใ—ใฆ่‡จๅบŠ็š„ใซๅŒบๅˆฅใ•ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฏ๏ผŒๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏใจใ‚‚ใซP450c18้บไผๅญใงใ‚ใ‚‹CYP11B2ใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใŸใ€‚ - 2200365 - + + Hyporeninaemic hypoaldosteronism + ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ + + + 68 + ๆœฌ็–พๆ‚ฃใฏ๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450c18(P450aldใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹)ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒ้šœๅฎณใ‚’ใใŸใ—๏ผŒๅกฉๅ–ชๅคฑ็—‡็Šถใ‚’่ตทใ“ใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰corticosterone methyloxidase (CMO)Iๆฌ ๆ็—‡๏ผŒCMO IIๆฌ ๆ็—‡ใจใ—ใฆ่‡จๅบŠ็š„ใซๅŒบๅˆฅใ•ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฏ๏ผŒๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏใจใ‚‚ใซP450c18้บไผๅญใงใ‚ใ‚‹CYP11B2ใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใŸใ€‚ + NANDO:2200365 + Aldosterone synthase deficiency + ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - + ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - - 70 - ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200366 - + + 70 + ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200366 + + 46ใŠใ‚ˆใณ47ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ† 46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ + other hypoaldosteronism - + + 46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - - 7 - 2200367 - + + 7 + NANDO:2200367 + Pseudohypoaldosteronism + ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ† ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - + ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ - - 7 - ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅ…ˆๅคฉ็š„ใช่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Naๅ†ๅธๅŽใจ๏ผซๆŽ’ๆณ„่ƒฝใฎไฝŽไธ‹ใฎใŸใ‚ๅกฉ้กžๅ–ชๅคฑ็—‡ๅ€™็พค salt-wasting syndromeใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ - 2200368 - - Pseudohypoaldosteronism typeI + + 7 + ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅ…ˆๅคฉ็š„ใช่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Naๅ†ๅธๅŽใจ๏ผซๆŽ’ๆณ„่ƒฝใฎไฝŽไธ‹ใฎใŸใ‚ๅกฉ้กžๅ–ชๅคฑ็—‡ๅ€™็พค salt-wasting syndromeใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ + NANDO:2200368 + + Pseudohypoaldosteronism type I + ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†1ใŒใŸ ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹ - + + ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹ - - 7 - ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒ้ซ˜ใ‚ฏใƒญใƒผใƒซ่ก€็—‡ๆ€งไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น ใ‚’ใใŸใ™ใŒ๏ผŒPHA Iใจ็•ฐใชใ‚Šๅกฉ้กžๅ–ชๅคฑ็—‡็Šถใฏใชใ๏ผŒๅพช็’ฐ่ก€ๆถฒ้‡ๅข—ๅคงใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Gordon็—‡ๅ€™็พคใจใ‚‚ใ„ใ†ใ€‚ - 2200369 - - Pseudohypoaldosteronism typeII - ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ…กๅž‹ + + 7 + ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒ้ซ˜ใ‚ฏใƒญใƒผใƒซ่ก€็—‡ๆ€งไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น ใ‚’ใใŸใ™ใŒ๏ผŒPHA Iใจ็•ฐใชใ‚Šๅกฉ้กžๅ–ชๅคฑ็—‡็Šถใฏใชใ๏ผŒๅพช็’ฐ่ก€ๆถฒ้‡ๅข—ๅคงใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Gordon็—‡ๅ€™็พคใจใ‚‚ใ„ใ†ใ€‚ + NANDO:2200369 + + Pseudohypoaldosteronism type II + ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†2ใŒใŸ + ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡IIๅž‹ - + + Gordon syndrome Gordon ็—‡ๅ€™็พค - ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ…กๅž‹ - - - 61 - ๆœฌ็—‡ใฏใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎๅพ‹้€Ÿๆฎต้šŽใซใ‚ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ˆ ใ‚Šใƒ—ใƒฌใ‚ฐใƒใƒŽใƒญใƒณใƒ˜ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็งป้€่›‹็™ฝใงใ‚ใ‚‹Steroidogenic acute regualtory proteinใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ๅ‰ฏ่…ŽๅŠใณๆ€ง่…บใซใŠใ‘ใ‚‹ใปใจใ‚“ใฉใ™ในใฆใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒๅˆๆˆใงใใชใ„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใใฎใŸใ‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ใพใŸ46ใ€ XYใฎๅ€‹ไฝ“ใงใฏ็ฒพๅทฃใงใฎ็”ทๆ€งใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ้šœๅฎณใฎใŸใ‚ๅค–ๆ€งๅ™จใŒๅฅณๆ€งๅŒ–ใ™ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ๆฅตใ‚ใฆใพใ‚Œใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅด้Ž–ๅˆ‡ๆ–ญ้…ต็ด (P450scc๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ - 2200370 - + + ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡IIๅž‹ + + + 61 + ๆœฌ็—‡ใฏใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎๅพ‹้€Ÿๆฎต้šŽใซใ‚ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ˆ ใ‚Šใƒ—ใƒฌใ‚ฐใƒใƒŽใƒญใƒณใƒ˜ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็งป้€่›‹็™ฝใงใ‚ใ‚‹Steroidogenic acute regualtory proteinใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ๅ‰ฏ่…ŽๅŠใณๆ€ง่…บใซใŠใ‘ใ‚‹ใปใจใ‚“ใฉใ™ในใฆใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒๅˆๆˆใงใใชใ„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใใฎใŸใ‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ใพใŸ46ใ€ XYใฎๅ€‹ไฝ“ใงใฏ็ฒพๅทฃใงใฎ็”ทๆ€งใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ้šœๅฎณใฎใŸใ‚ๅค–ๆ€งๅ™จใŒๅฅณๆ€งๅŒ–ใ™ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ๆฅตใ‚ใฆใพใ‚Œใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅด้Ž–ๅˆ‡ๆ–ญ้…ต็ด (P450scc๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200370 + Congenital lipoid adrenal hyperplasia + ใ‚Šใฝใ„ใฉใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ + - + + ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ - - 57 - ๆœฌ็—‡ใฏๅ‰ฏ่…Ž๏ผŒๆ€ง่…บใซใŠใ‘ใ‚‹3ฮฒโ€ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใŸใ‚๏ผŒๅ‰ฏ่…Žไธๅ…จๅŠใณๅค–ๆ€งๅ™จ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใฎๅฝขๅผใ‚’็คบใ™ใ€‚ๆœฌ็—‡ใซใฏๅคๅ…ธๅž‹ใฎใปใ‹้žๅคๅ…ธๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200371 - + + 57 + ๆœฌ็—‡ใฏๅ‰ฏ่…Ž๏ผŒๆ€ง่…บใซใŠใ‘ใ‚‹3ฮฒโ€ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใŸใ‚๏ผŒๅ‰ฏ่…Žไธๅ…จๅŠใณๅค–ๆ€งๅ™จ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใฎๅฝขๅผใ‚’็คบใ™ใ€‚ๆœฌ็—‡ใซใฏๅคๅ…ธๅž‹ใฎใปใ‹้žๅคๅ…ธๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200371 + 3 beta-hydroxysteroid dehydrogenase deficiency 3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + 3ในใƒผใŸใฒใฉใ‚ใใ—ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + 3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 56 - ๆœฌ็–พๆ‚ฃใฏๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใงใ‚ใ‚Š๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cll๏ผˆ11ฮฒโ€ๆฐด้…ธๅŒ–้…ต็ด ๏ผ‰ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจ๏ผŒใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹็”ทๆ€งๅŒ–ใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200372 - - 11 beta-hydroxylase deficiency + + 56 + ๆœฌ็–พๆ‚ฃใฏๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใงใ‚ใ‚Š๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cll๏ผˆ11ฮฒโ€ๆฐด้…ธๅŒ–้…ต็ด ๏ผ‰ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจ๏ผŒใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹็”ทๆ€งๅŒ–ใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200372 + + 11-ฮฒ-Hydroxylase deficiency 11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + 11ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + 11-beta-hydroxylase deficiency 11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 58 - ๆœฌ็–พๆ‚ฃใฏ๏ผŒๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใจใ—ใฆ๏ผŒ1966ๅนดBiglieri ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cl7ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจๆ€งใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆฌ ไนใซใ‚ˆใ‚‹ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200373 - + + 58 + ๆœฌ็–พๆ‚ฃใฏ๏ผŒๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใจใ—ใฆ๏ผŒ1966ๅนดBiglieri ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cl7ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจๆ€งใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆฌ ไนใซใ‚ˆใ‚‹ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200373 + 17 alpha-hydroxylase deficiency 17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + 17ใ‚ใ‚‹ใตใใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + 17-ฮฑ-Hydroxylase deficiency 17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 59 - ๆœฌ็—‡ใฏๅ‰ฏ่…ŽใซใŠใ„ใฆ17โ€ใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณ๏ผŒใ‚ใ‚‹ใ„ใฏใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณใ‹ใ‚‰ใใ‚Œใžใ‚Œ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚พใƒผใƒซ๏ผŒ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใƒณใฎๅˆๆˆใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹21ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆP450 c21๏ผ‰ใŒๆฌ ๆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ใฎๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใ‚’็คบใ—๏ผŒ่‡จๅบŠ็—‡็Šถใซๅคšๆง˜ๆ€งใŒใ‚ใ‚Š้‡็—‡ๅบฆใฎ้ †ใซๅกฉๅ–ชๅคฑๅž‹๏ผŒๅ˜็ด”็”ทๆ€งๅž‹๏ผŒๆ›ดใซ้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆ1989ๅนดใ‚ˆใ‚Šๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200374 - - 21-hydroxylase deficiency + + 59 + ๆœฌ็—‡ใฏๅ‰ฏ่…ŽใซใŠใ„ใฆ17โ€ใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณ๏ผŒใ‚ใ‚‹ใ„ใฏใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณใ‹ใ‚‰ใใ‚Œใžใ‚Œ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚พใƒผใƒซ๏ผŒ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใƒณใฎๅˆๆˆใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹21ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆP450 c21๏ผ‰ใŒๆฌ ๆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ใฎๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใ‚’็คบใ—๏ผŒ่‡จๅบŠ็—‡็Šถใซๅคšๆง˜ๆ€งใŒใ‚ใ‚Š้‡็—‡ๅบฆใฎ้ †ใซๅกฉๅ–ชๅคฑๅž‹๏ผŒๅ˜็ด”็”ทๆ€งๅž‹๏ผŒๆ›ดใซ้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆ1989ๅนดใ‚ˆใ‚Šๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200374 + + 21-Hydroxylase deficiency 21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - + 21ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + 21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 60 - P450 oxidoreductase(POR)ใฏ่†œ็ตๅˆๅž‹ flavoprotein ใงใ‚ใ‚Šใ€ใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ™ในใฆใฎP450้…ต็ด ็พคใซ้›ปๅญไผ้”ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹21-ๆฐด้…ธๅŒ–้…ต็ด ใจ17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ใฎ่ค‡ๅˆๆฌ ๆใ‚’ไผดใ†ใ€‚ใพใŸใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅˆๆˆใซใ‚‚P450ใŒ้–ขไธŽใ™ใ‚‹ใŸใ‚ใ€็ดฐ่ƒžๅ†…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€ๆง˜ใ€…ใช้ชจๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใ‚ˆใ‚Š้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ใชใฉใฎๅคš็™บๅฅ‡ๅฝขใ‚’ใจใ‚‚ใชใ†Antley-Bixler็—‡ๅ€™็พคใฎใชใ‹ใซใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎ็”ฃ็”Ÿ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏPORใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ - 2200375 - + + 60 + P450 oxidoreductase(POR)ใฏ่†œ็ตๅˆๅž‹ flavoprotein ใงใ‚ใ‚Šใ€ใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ™ในใฆใฎP450้…ต็ด ็พคใซ้›ปๅญไผ้”ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹21-ๆฐด้…ธๅŒ–้…ต็ด ใจ17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ใฎ่ค‡ๅˆๆฌ ๆใ‚’ไผดใ†ใ€‚ใพใŸใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅˆๆˆใซใ‚‚P450ใŒ้–ขไธŽใ™ใ‚‹ใŸใ‚ใ€็ดฐ่ƒžๅ†…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€ๆง˜ใ€…ใช้ชจๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใ‚ˆใ‚Š้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ใชใฉใฎๅคš็™บๅฅ‡ๅฝขใ‚’ใจใ‚‚ใชใ†Antley-Bixler็—‡ๅ€™็พคใฎใชใ‹ใซใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎ็”ฃ็”Ÿ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏPORใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ + NANDO:2200375 + P450 oxidoreductase deficiency P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ + ใดใƒผ450ใ•ใ‚“ใ‹ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - + + P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + PORD + PORๆฌ ๆ็—‡ + P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ - - 62 - ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200376 - + + 62 + ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200376 + + 50ใ‹ใ‚‰55ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† 50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ + other congenital adrenal hyperplasia - - - - 37 - ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ - 2200377 - + + 50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ + + + 37 + ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200377 + + gonadotropin-dependent precocious puberty + ใ”ใชใฉใจใ‚ใดใ‚“ใ„ใžใ‚“ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ† ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ - - - - 38 - ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰2SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ - 2200378 - + + + ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ + + + 38 + ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰2SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200378 + + non-gonadotropin-dependent precocious puberty + ใ”ใชใฉใจใ‚ใดใ‚“ใฒใ„ใžใ‚“ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ† ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ - - - - 3 - ็”ทๆ€งใงใฏๅฅณๆ€งๅŒ–ไนณๆˆฟใ‚’ใใŸใ—ใ€ๅฅณๆ€งใงใฏๅทจๅคงไนณๆˆฟใ€ไธๆญฃๆ€งๅ™จๅ‡บ่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€่ก€ไธญใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณใฎ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใ€‚ - 2200379 - + + + ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ + + + 3 + ็”ทๆ€งใงใฏๅฅณๆ€งๅŒ–ไนณๆˆฟใ‚’ใใŸใ—ใ€ๅฅณๆ€งใงใฏๅทจๅคงไนณๆˆฟใ€ไธๆญฃๆ€งๅ™จๅ‡บ่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€่ก€ไธญใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณใฎ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:2200379 + + hyperestrogenism + ใˆใ™ใจใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡ - - - - 2 - ๅฅณๆ€งใซใŠใ„ใฆใ€็”ทๆ€งใƒ›ใƒซใƒขใƒณใฎ้Žๅ‰ฐใซใ‚ˆใ‚Š็”ทๆ€งๅŒ–ๅ…†ๅ€™ใ‚’็คบใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ก€ไธญใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใพใŸใ€็‰นใซใ‚ขใƒญใƒžใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไบŒๆฌกๆ€งๅพดใฎๆฌ ๅฆ‚ใจ้€ฒ่กŒๆ€งใฎ็”ทๆ€งๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ - 2200380 - + + + ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡ + + + 2 + ๅฅณๆ€งใซใŠใ„ใฆใ€็”ทๆ€งใƒ›ใƒซใƒขใƒณใฎ้Žๅ‰ฐใซใ‚ˆใ‚Š็”ทๆ€งๅŒ–ๅ…†ๅ€™ใ‚’็คบใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ก€ไธญใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใพใŸใ€็‰นใซใ‚ขใƒญใƒžใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไบŒๆฌกๆ€งๅพดใฎๆฌ ๅฆ‚ใจ้€ฒ่กŒๆ€งใฎ็”ทๆ€งๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:2200380 + + hyperandrogenism + ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡ - - - - 71 - ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ - 2200381 - + + + ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡ + + + 71 + ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ + NANDO:2200381 + Kallmann syndrome + ใ‹ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค - + Kallmann็—‡ๅ€™็พค ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค - - 72 - ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ - 2200382 - + + 72 + ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ + NANDO:2200382 + + Hypogonadotropic hypogonadism + ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - + - + + ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡ + + ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 20 - ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ - 2200383 - + + 20 + ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200383 + Testicular dysgenesis + ใ›ใ„ใใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ ็ฒพๅทฃๅฝขๆˆไธๅ…จ - + ็ฒพๅทฃๅฝขๆˆไธๅ…จ - - 21 - ๆœฌ็–พๆ‚ฃใฏๅตๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ - 2200384 - + + 21 + ๆœฌ็–พๆ‚ฃใฏๅตๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200384 + Ovarian dysgenesis + ใ‚‰ใ‚“ใใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ ๅตๅทฃๅฝขๆˆไธๅ…จ - - + ๅตๅทฃๅฝขๆˆไธๅ…จ - - 22 - ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใ‚„ๅตๅทฃ่‡ชไฝ“ใŒๅŽŸๅ› ใงๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใƒปไธ‹ๅž‚ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซ็ฒพๅทฃใ‚„ๅตๅทฃใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็ฒพๅทฃใ‚„ๅตๅทฃใฎ็™บ็”Ÿใ€ๅˆ†ๅŒ–ใฎ้Ž็จ‹ใซๆ˜Žใ‚‰ใ‹ใช้šœๅฎณใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใฏ้™คๅค–ใ™ใ‚‹๏ผˆ็ฒพๅทฃๅฝขๆˆไธๅ…จใ€ๅตๅทฃๅฝขๆˆไธๅ…จใฎใƒšใƒผใ‚ธๅ‚็…ง๏ผ‰ใ€‚ - 2200385 - + + 22 + ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใ‚„ๅตๅทฃ่‡ชไฝ“ใŒๅŽŸๅ› ใงๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใƒปไธ‹ๅž‚ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซ็ฒพๅทฃใ‚„ๅตๅทฃใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็ฒพๅทฃใ‚„ๅตๅทฃใฎ็™บ็”Ÿใ€ๅˆ†ๅŒ–ใฎ้Ž็จ‹ใซๆ˜Žใ‚‰ใ‹ใช้šœๅฎณใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใฏ้™คๅค–ใ™ใ‚‹๏ผˆ็ฒพๅทฃๅฝขๆˆไธๅ…จใ€ๅตๅทฃๅฝขๆˆไธๅ…จใฎใƒšใƒผใ‚ธๅ‚็…ง๏ผ‰ใ€‚ + NANDO:2200385 + + 63ใŠใ‚ˆใณ64ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ† 63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ Hypergonadotropic hypogonadism of other etiologies - + 63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ - - 22 - 2200386 - - Klinefelterย syndrome + + 22 + NANDO:2200386 + + Klinefelter syndrome Klinefelter็—‡ๅ€™็พค + ใ‚ฏใƒฉใ‚คใƒณใƒ•ใ‚งใƒซใ‚ฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + Klinefelter็—‡ๅ€™็พค - - 53 - ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆovotesticular DSDใ€ไปฅๅ‰ใฎๅ‘ผ็งฐใงใฏ็œŸๆ€งๅŠ้™ฐ้™ฝ๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ๅ†…ใซๅตๅทฃ็ต„็น”ใจ็ฒพๅทฃ็ต„็น”ใŒๅŒๅดใ‚ใ‚‹ใ„ใฏๅฏพๅดใซๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็•ฐใชใ‚‹ๆ€ง่…บใฎ็ต„ใฟๅˆใ‚ใ›ใฏๅคšๆง˜ใงใ€ไธ€ๅดใŒ็ฒพๅทฃใงๅฏพๅดใŒๅตๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ20๏ผ…ใ€ไธ€ๅดใŒ็ฒพๅทฃใพใŸใฏๅตๅทฃใงๅฏพๅดใŒๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„50๏ผ…ใ€ไธกๅดใจใ‚‚ใซๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„30๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)ใ€‚ๆ ธๅž‹ใฏใ€ไบบ็จฎใซใ‚ˆใฃใฆๅทฎใ‚’่ชใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹125ไพ‹ใงใฎๆคœ่จŽใงใฏใ€46,XXใŒ61.6๏ผ…ใ€46,XYใŒ12.8๏ผ…ใ€46,XX/46,XYใŒ14.4๏ผ…ใงใ‚ใฃใŸใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚ - 2200387 - + + 53 + ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆovotesticular DSDใ€ไปฅๅ‰ใฎๅ‘ผ็งฐใงใฏ็œŸๆ€งๅŠ้™ฐ้™ฝ๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ๅ†…ใซๅตๅทฃ็ต„็น”ใจ็ฒพๅทฃ็ต„็น”ใŒๅŒๅดใ‚ใ‚‹ใ„ใฏๅฏพๅดใซๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็•ฐใชใ‚‹ๆ€ง่…บใฎ็ต„ใฟๅˆใ‚ใ›ใฏๅคšๆง˜ใงใ€ไธ€ๅดใŒ็ฒพๅทฃใงๅฏพๅดใŒๅตๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ20๏ผ…ใ€ไธ€ๅดใŒ็ฒพๅทฃใพใŸใฏๅตๅทฃใงๅฏพๅดใŒๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„50๏ผ…ใ€ไธกๅดใจใ‚‚ใซๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„30๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)ใ€‚ๆ ธๅž‹ใฏใ€ไบบ็จฎใซใ‚ˆใฃใฆๅทฎใ‚’่ชใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹125ไพ‹ใงใฎๆคœ่จŽใงใฏใ€46,XXใŒ61.6๏ผ…ใ€46,XYใŒ12.8๏ผ…ใ€46,XX/46,XYใŒ14.4๏ผ…ใงใ‚ใฃใŸใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚ + NANDO:2200387 + Ovotesticular dsd + ใ‚‰ใ‚“ใ›ใ„ใใ†ใ›ใ„ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“ ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ - - - + ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ - - 51 - ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡๏ผˆmixed gonadal dysgenesis๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ใซใŠใ„ใฆ็ฒพๅทฃๆˆๅˆ†ใจ็ดข็Šถๆ€ง็ทšใŒๅ…ฑๅญ˜ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ใใ‚Œใซ้–ข้€ฃใ™ใ‚‹ๅ†…ๅค–ๆ€งๅ™จใฎๅˆ†ๅŒ–็•ฐๅธธใŒใฟใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹1)ใ€‚ไปฃ่กจ็š„ใชๆ ธๅž‹ใฏใ€45,X/46,XYใฎใƒขใ‚ถใ‚คใ‚ฏใงใ‚ใ‚‹ใŒใ€45,X/47,XYYใ‚„45,X/46,XY/47,XYYใฎๆ ธๅž‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200388 - + + 51 + ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡๏ผˆmixed gonadal dysgenesis๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ใซใŠใ„ใฆ็ฒพๅทฃๆˆๅˆ†ใจ็ดข็Šถๆ€ง็ทšใŒๅ…ฑๅญ˜ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ใใ‚Œใซ้–ข้€ฃใ™ใ‚‹ๅ†…ๅค–ๆ€งๅ™จใฎๅˆ†ๅŒ–็•ฐๅธธใŒใฟใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹1)ใ€‚ไปฃ่กจ็š„ใชๆ ธๅž‹ใฏใ€45,X/46,XYใฎใƒขใ‚ถใ‚คใ‚ฏใงใ‚ใ‚‹ใŒใ€45,X/47,XYYใ‚„45,X/46,XY/47,XYYใฎๆ ธๅž‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200388 + Mixed gonadal dysgenesis + ใ“ใ‚“ใ”ใ†ใ›ใ„ใ›ใ„ใ›ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡ - + ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡ - - 49 - ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚ - 2200389 - + + 49 + ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚ + NANDO:2200389 + 5 alpha-reductase deficiency 5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ - + 5ใ‚ใ‚‹ใตใใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - + 5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ - - 48 - ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚ - 2200390 - + + 48 + ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚ + NANDO:2200390 + 17 beta-hydroxysteroid dehydrogenase deficiency 17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + 17ในใƒผใŸใฒใฉใ‚ใใ—ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + 17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 47 - ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎไฝœ็”จ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚ - 2200391 - + + 47 + ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎไฝœ็”จ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚ + NANDO:2200391 + Androgen insensitivity syndrome + ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใตใŠใ†ใ—ใ‚‡ใ† ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ - + ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ - - 50 - ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XYใฎใ‚‚ใฎใฎไธญใงใ€5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใ€17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡๏ผˆใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡๏ผ‰ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200392 - + + 50 + ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XYใฎใ‚‚ใฎใฎไธญใงใ€5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใ€17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡๏ผˆใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡๏ผ‰ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200392 + + 68ใ‹ใ‚‰70ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,ใˆใฃใใ™ใ‚ใ„ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“ 68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ Other disorders of sex development of 46,XY - + 68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ - - 52 - ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XXใฎใ‚‚ใฎใ€‚ - 2200393 - + + 52 + ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XXใฎใ‚‚ใฎใ€‚ + NANDO:2200393 + 46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ + 46,ใˆใฃใใ™ใˆใฃใใ™ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“ + disorders of sex development of 46,XY - - - - 42 - ่…ซ็˜ใ‹ใ‚‰ใฎVIPๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ - 2200394 - + + 46,XY DSD + + + 46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ + + + 42 + ่…ซ็˜ใ‹ใ‚‰ใฎVIPๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ + NANDO:2200394 + VIP็”ฃ็”Ÿ่…ซ็˜ Vipoma + ใถใ„ใ‚ใ„ใดใƒผใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ† - + VIP็”ฃ็”Ÿ่…ซ็˜ - - 40 - ่†ตใ€ๅไบŒๆŒ‡่…ธใซ็™บ็”Ÿใ™ใ‚‹ใ‚ฌใ‚นใƒˆใƒชใƒณ็”ฃ็”Ÿ่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฌใ‚นใƒˆใƒชใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ - 2200395 - + + 40 + ่†ตใ€ๅไบŒๆŒ‡่…ธใซ็™บ็”Ÿใ™ใ‚‹ใ‚ฌใ‚นใƒˆใƒชใƒณ็”ฃ็”Ÿ่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฌใ‚นใƒˆใƒชใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ + NANDO:2200395 + Gastrinoma + ใŒใ™ใจใ‚Šใฎใƒผใพ ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž - + - ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž - - 41 - ่…ซ็˜ใซใ‚ˆใ‚‹ๆดปๆ€งใ‚ขใƒŸใƒณ(ใ‚ปใƒญใƒˆใƒ‹ใƒณใ€ใƒ’ใ‚นใ‚ฟใƒŸใƒณ)ใ€ใ‚ฟใ‚ญใ‚ญใƒ‹ใƒณใ€ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณใชใฉ ใฎๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ - 2200396 - + + 41 + ่…ซ็˜ใซใ‚ˆใ‚‹ๆดปๆ€งใ‚ขใƒŸใƒณ(ใ‚ปใƒญใƒˆใƒ‹ใƒณใ€ใƒ’ใ‚นใ‚ฟใƒŸใƒณ)ใ€ใ‚ฟใ‚ญใ‚ญใƒ‹ใƒณใ€ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณใชใฉ ใฎๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ + NANDO:2200396 + Carcinoid syndrome + ใ‹ใ‚‹ใกใฎใ„ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค - + ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค - - 15 - ไธปใซ่†ตใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฐใƒซใ‚ซใ‚ดใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ - 2200397 - + + 15 + ไธปใซ่†ตใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฐใƒซใ‚ซใ‚ดใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚ + NANDO:2200397 + Glucagonoma + ใใ‚‹ใ‹ใ”ใฎใƒผใพ ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž - + ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž - - 17 - ่†ตฮฒ็ดฐ่ƒž็”ฑๆฅใฎใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒๆ€ง่…บ่…ซใ€‚ - 2200398 - + + 17 + ่†ตฮฒ็ดฐ่ƒž็”ฑๆฅใฎใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒๆ€ง่…บ่…ซใ€‚ + NANDO:2200398 + Insulinoma + ใ„ใ‚“ใ™ใ‚Šใฎใƒผใพ ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž - + ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž - - 18 - ๅ…ˆๅคฉๆ€งใซ่†ตฮฒ็ดฐ่ƒžใฎไธ€้ƒจใพใŸใฏๅ…จ้ƒจใ‹ใ‚‰ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ใใŸใ—ใ€้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200399 - - Congenital hyperinsulinaemia + + 18 + ๅ…ˆๅคฉๆ€งใซ่†ตฮฒ็ดฐ่ƒžใฎไธ€้ƒจใพใŸใฏๅ…จ้ƒจใ‹ใ‚‰ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ใใŸใ—ใ€้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200399 + + Congenital hyperinsulinemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ - + + Congenital hyperinsulinaemia + + ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ - - 19 - ใ‚คใƒณใ‚นใƒชใƒณใฎ้Žๅ‰ฐใซใ‚ˆใฃใฆ้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใฎใ†ใกใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒžใ€ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใ€‚ - 2200400 - + + 19 + ใ‚คใƒณใ‚นใƒชใƒณใฎ้Žๅ‰ฐใซใ‚ˆใฃใฆ้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใฎใ†ใกใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒžใ€ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใ€‚ + NANDO:2200400 + + 77ใŠใ‚ˆใณ78ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ›ใ„ใฆใ„ใ‘ใฃใจใ†ใ—ใ‚‡ใ† 77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡ - Other hyperinsulinaemic hypoglycaemia + Other hyperinsulinemic hypoglycemia - + + Other hyperinsulinaemic hypoglycaemia 77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡ - - 76 - ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…ใฏใ€้บไผๆ€งใซใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ใใŸใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‚ซๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ไฝๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD 1ฮฑไฝๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ(CYP27B1)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡Iๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR I๏ผ‰ใจ๏ผŒใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ(VDR)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡IIๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type II๏ผšVDDR II๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200401 - + + 76 + ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…ใฏใ€้บไผๆ€งใซใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ใใŸใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‚ซๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ไฝๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD 1ฮฑไฝๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ(CYP27B1)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡Iๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR I๏ผ‰ใจ๏ผŒใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ(VDR)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡IIๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type II๏ผšVDDR II๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200401 + Vitamin d-dependent rickets + ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—… - - + ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—… - - 77 - ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใฎ้€šๅธธ้‡ใงๆฒป็™’ใงใใชใ„้ชจ่ปŸๅŒ–็—‡ใฎ็ท็งฐใจใ—ใฆใ€ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ใจใ„ใ†็—…ๅใŒไฝฟ็”จใ•ใ‚Œใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€็นŠ็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23 (fibroblast growth factor 23: FGF23) ้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ†้บไผๆ€งไฝŽใƒชใƒณ่ก€ๆ€งใใ‚‹็—…ใ€่…ซ็˜ๆ€ง้ชจ่ปŸๅŒ–็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚้€šๅธธใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹๏ผˆใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใฎ้ …ๅ‚็…ง๏ผ‰ใ€‚็”ŸๅพŒใ€ๆ•ฐๅนดไปฅๅ†…ใซใใ‚‹็—…ใฎๅฝขใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„๏ผˆใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผ‰ใ€‚ - 2200402 - - Vitamin d resistant osteomalacia + + 77 + ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใฎ้€šๅธธ้‡ใงๆฒป็™’ใงใใชใ„้ชจ่ปŸๅŒ–็—‡ใฎ็ท็งฐใจใ—ใฆใ€ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ใจใ„ใ†็—…ๅใŒไฝฟ็”จใ•ใ‚Œใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€็นŠ็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23 (fibroblast growth factor 23: FGF23) ้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ†้บไผๆ€งไฝŽใƒชใƒณ่ก€ๆ€งใใ‚‹็—…ใ€่…ซ็˜ๆ€ง้ชจ่ปŸๅŒ–็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚้€šๅธธใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹๏ผˆใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใฎ้ …ๅ‚็…ง๏ผ‰ใ€‚็”ŸๅพŒใ€ๆ•ฐๅนดไปฅๅ†…ใซใใ‚‹็—…ใฎๅฝขใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„๏ผˆใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผ‰ใ€‚ + NANDO:2200402 + + Vitamin D-resistant osteomalacia + ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ† ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ + - + + ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ - - 16 - ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใฏใ€่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใƒชใƒณๅ†ๅธๅŽใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅฐฟใƒชใƒณๆŽ’ๆณ„ใŒๅข—ๅŠ ใ—ใ€่ก€ๆธ…ใƒชใƒณๆฟƒๅบฆใŒไฝŽไธ‹ใ™ใ‚‹ไบ‹ใซใ‚ˆใ‚Šใใ‚‹็—…ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจ้ž้บไผๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅ‰่€…ใฏใ•ใ‚‰ใซใ€้บไผๅฝขๅผใŠใ‚ˆใณ็—‡็Šถใซใ‚ˆใ‚Šๆ•ฐ็จฎ้กžใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใ€็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23๏ผˆFGF23: Fibroblast growth factor 23๏ผ‰ใŒใƒชใƒณๅˆฉๅฐฟใ‚’ๆƒน่ตทใ™ใ‚‹ไธปๅ› ๅญใจใ—ใฆๅŒๅฎšใ•ใ‚Œใ€FGF23ใฎไธŠๆ˜‡ใซๅฏ„ใ‚‹ใใ‚‹็—…ใ‚’FGF23้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใจใ‚‚ๅ‘ผใถใ€‚้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ‚ใชใ„ไฝŽใƒชใƒณ่ก€็—‡ใฏๅพŒๅคฉๆ€งใซใ‚‚ใŠใ“ใ‚Šใ€่…ซ็˜ใซไผดใ†ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ๅข—ๅŠ ใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹ๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใชใฉใงใฟใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200403 - - Primary hypophosphataemic rickets + + 16 + ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใฏใ€่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใƒชใƒณๅ†ๅธๅŽใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅฐฟใƒชใƒณๆŽ’ๆณ„ใŒๅข—ๅŠ ใ—ใ€่ก€ๆธ…ใƒชใƒณๆฟƒๅบฆใŒไฝŽไธ‹ใ™ใ‚‹ไบ‹ใซใ‚ˆใ‚Šใใ‚‹็—…ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจ้ž้บไผๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅ‰่€…ใฏใ•ใ‚‰ใซใ€้บไผๅฝขๅผใŠใ‚ˆใณ็—‡็Šถใซใ‚ˆใ‚Šๆ•ฐ็จฎ้กžใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใ€็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23๏ผˆFGF23: Fibroblast growth factor 23๏ผ‰ใŒใƒชใƒณๅˆฉๅฐฟใ‚’ๆƒน่ตทใ™ใ‚‹ไธปๅ› ๅญใจใ—ใฆๅŒๅฎšใ•ใ‚Œใ€FGF23ใฎไธŠๆ˜‡ใซๅฏ„ใ‚‹ใใ‚‹็—…ใ‚’FGF23้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใจใ‚‚ๅ‘ผใถใ€‚้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ‚ใชใ„ไฝŽใƒชใƒณ่ก€็—‡ใฏๅพŒๅคฉๆ€งใซใ‚‚ใŠใ“ใ‚Šใ€่…ซ็˜ใซไผดใ†ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ๅข—ๅŠ ใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹ๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใชใฉใงใฟใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200403 + + Primary hypophosphatemic rickets + ใ’ใ‚“ใฑใคใ›ใ„ใฆใ„ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ† ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—… - + + Primary hypophosphataemic rickets + ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—… - - 39 - ๆ „้คŠ็Šถๆ…‹ใซ้–ขใ‚ใ‚‰ใšใ€่„‚่‚ช็ต„็น”ใŒๅ…จ่บซๆ€งใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆธ›ๅฐ‘ใƒปๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใ€‚ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€่„‚่ณช็•ฐๅธธใ‚’ใใŸใ—ใฆ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Ž็ธฎใฎๅˆ†ๅธƒใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใซใ‚ˆใ‚Šไธ‹่จ˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ใ€€ๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(1) ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆBerardinelli-Seip ็—‡ๅ€™็พค๏ผ‰(2) ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆLawrence ็—‡ๅ€™็พค๏ผ‰ใ€€๏ผ’ใ€€้ƒจๅˆ†็š„่„‚่‚ช่Ž็ธฎ็—‡(3) ๅ…ˆๅคฉๆ€ง๏ผˆๅฎถๆ—ๆ€ง๏ผ‰้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(4) ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ - 2200404 - + + 39 + ๆ „้คŠ็Šถๆ…‹ใซ้–ขใ‚ใ‚‰ใšใ€่„‚่‚ช็ต„็น”ใŒๅ…จ่บซๆ€งใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆธ›ๅฐ‘ใƒปๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใ€‚ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€่„‚่ณช็•ฐๅธธใ‚’ใใŸใ—ใฆ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Ž็ธฎใฎๅˆ†ๅธƒใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใซใ‚ˆใ‚Šไธ‹่จ˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ใ€€ๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(1) ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆBerardinelli-Seip ็—‡ๅ€™็พค๏ผ‰(2) ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆLawrence ็—‡ๅ€™็พค๏ผ‰ใ€€๏ผ’ใ€€้ƒจๅˆ†็š„่„‚่‚ช่Ž็ธฎ็—‡(3) ๅ…ˆๅคฉๆ€ง๏ผˆๅฎถๆ—ๆ€ง๏ผ‰้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(4) ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡ + NANDO:2200404 + Lipodystrophy - ่„‚่‚ช็•ฐๆ „้คŠ็—‡ + ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† + ่„‚่‚ช่Ž็ธฎ็—‡ + - - ่„‚่‚ช่Ž็ธฎ็—‡ + + ่„‚่‚ช็•ฐๆ „้คŠ็—‡ - ่„‚่‚ช็•ฐๆ „้คŠ็—‡ + ่„‚่‚ช่Ž็ธฎ็—‡ - - 64 - ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ€่†ตๆถˆๅŒ–็ฎกๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ€ไธ‹ๅž‚ไฝ“่…บ่…ซใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…บ่…ซใพใŸใฏ้Žๅฝขๆˆใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200405 - + + 64 + ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ€่†ตๆถˆๅŒ–็ฎกๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ€ไธ‹ๅž‚ไฝ“่…บ่…ซใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…บ่…ซใพใŸใฏ้Žๅฝขๆˆใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200405 + Multiple endocrine neoplasia type 1 + ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†1ใŒใŸ ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ - + MEN1 Wermer syndrome Wermer็—‡ๅ€™็พค @@ -20643,16 +24784,18 @@ ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ - - 65 - ็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…ซ็˜ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200406 - + + 65 + ็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…ซ็˜ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200406 + Multiple endocrine neoplasia type 2 + ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†2ใŒใŸ ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹ + - - MEN2 + + MEN 2 Sipple syndrome Sipple็—‡ๅ€™็พค ใ‚ทใƒƒใƒ—ใƒซ็—‡ๅ€™็พค @@ -20660,8127 +24803,13878 @@ ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹ - - 66 - ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ใŠใ‚ˆใณ2ๅž‹ใซๅฑžใ•ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹Von Hippel-Lindau็—…ใŠใ‚ˆใณVon Recklinghausen็—…ใ€ใใฎไป–ใŒๅซใพใ‚Œใ‚‹๏ผˆใŸใ ใ—ใ€Von Recklinghausen็—…ใซใคใ„ใฆใฏ ็šฎ่†š็–พๆ‚ฃ11. ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… ใ‚’ๅ‚็…งใฎใ“ใจ๏ผ‰ใ€‚ - 2200407 - + + 66 + ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ใŠใ‚ˆใณ2ๅž‹ใซๅฑžใ•ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹Von Hippel-Lindau็—…ใŠใ‚ˆใณVon Recklinghausen็—…ใ€ใใฎไป–ใŒๅซใพใ‚Œใ‚‹๏ผˆใŸใ ใ—ใ€Von Recklinghausen็—…ใซใคใ„ใฆใฏ ็šฎ่†š็–พๆ‚ฃ11. ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… ใ‚’ๅ‚็…งใฎใ“ใจ๏ผ‰ใ€‚ + NANDO:2200407 + + 84ใŠใ‚ˆใณ85ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ† 84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ - Multiple endocrine neoplasia + Other Multiple endocrine neoplasia - - + 84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ - - 66 - 2200408 - + + 66 + NANDO:2200408 + + Von Hippel-Lindau disease Von Hippel-Lindau็—… - Von Hippelโ€“Lindau disease + ใตใ‰ใ‚“ใฒใฃใบใ‚‹ใ‚Šใ‚“ใฉใ†ใณใ‚‡ใ† + - + + Von Hippel-Lindau็—… - - 63 - 1935ๅนดใซใ€ไธกๅดๅตๅทฃใฎๅคšๅšข่ƒžๆ€ง่…ซๅคงใจ่‚ฅๆบ€ใƒป็”ทๆ€งๅŒ–ๅพดๅ€™ใ‚’ไผดใ†ๆœˆ็ตŒ็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹Stein-Leventhal็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ไปฅๅพŒ๏ฝคๆˆไบบใซใŠใ„ใฆใฏๆŽ’ๅต้šœๅฎณใ‚’ไผดใ†็—‡ๅ€™็พคใจใ—ใฆไธ€่ˆฌๅŒ–ใ—ใŸใŒใ€ๅฟ…ใšใ—ใ‚‚็‰นๅพด็š„ๅพดๅ€™ใ‚’ๆœ‰ใ•ใชใ„PCOS็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๅŸบๆบ–ใŒๆ›–ๆ˜งใจใชใฃใฆใ„ใŸใ€‚ๆตทๅค–ใงใฏ1990ๅนดใซNIHใŒๆŽ’ๅต้šœๅฎณใจ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใฎไบŒใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†่จบๆ–ญๅŸบๆบ–ใ‚’ไฝœๆˆใ—ใ€2003ๅนดใซESHRE/ASRMใฎใ€ใ„ใ‚ใ‚†ใ‚‹Rotterdam CriteriaใŒ็ญ–ๅฎšใ•ใ‚Œใ€ๆŽ’ๅต้šœๅฎณใ€้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎใ†ใกไบŒใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจใ—ใ€ใ“ใ‚ŒใŒไธ–็•Œ็š„ใซใฏๆœ€ใ‚‚ๅคšใไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2009ๅนดใซใฏAES๏ผˆAndrogen Excess Society๏ผ‰ใŒ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ‚’่ชใ‚ใชใ„PCOSใฎๅญ˜ๅœจใซ็–‘ๅ•ใ‚’ๅ‘ˆใ—ใ€ๆœชใ ่ญฐ่ซ–ใฏ็ถ™็ถšใ—ใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆ–นๆœฌ้‚ฆใงใฏใ€ๆฌง็ฑณใจใฎ่กจ็พๅž‹ใŒ็•ฐใชใ‚‹ใ“ใจใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€็‰นใซ่‚ฅๆบ€ใ‚’ไผดใ†ไพ‹ใŒๅฐ‘ใชใ„ใ“ใจใ€ๆฑใ‚ขใ‚ธใ‚ข็ณปใงใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใงใ‚‚ๅคšๆฏ›ใ‚’ๆฅใ•ใชใ„ไพ‹ใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€ๆฌง็ฑณใฎๅฎš็พฉใ‚’ใใฎใพใพๅฝ“ใฆใฏใ‚ใ‚‹ใ“ใจใซใฏ็„ก็†ใŒใ‚ใฃใŸใ€‚ใใ“ใงๆ—ฅๆœฌ็”ฃๅฉฆไบบ็ง‘ๅญฆไผšใฏใ€1993ๅนดใซ็”ŸๅŒ–ๅญฆใƒ‡ใƒผใ‚ฟใ‚’็››ใ‚Š่พผใฟ๏ฝคๆŽ’ๅต้šœๅฎณใ€้ซ˜LHใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ใ—ใ‹ใ—ใ€LHๆธฌๅฎš็ณปใฎๅ•้กŒใชใฉใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ€2007ๅนดใซใฏใ“ใ‚Œใ‚’ๆ”นๅฎšใ—ใ€ๆœˆ็ตŒ็•ฐๅธธ๏ผˆๆŽ’ๅต้šœๅฎณ๏ผ‰ใ€้ซ˜LHใพใŸใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใ€ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ - 2200409 - + + 63 + 1935ๅนดใซใ€ไธกๅดๅตๅทฃใฎๅคšๅšข่ƒžๆ€ง่…ซๅคงใจ่‚ฅๆบ€ใƒป็”ทๆ€งๅŒ–ๅพดๅ€™ใ‚’ไผดใ†ๆœˆ็ตŒ็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹Stein-Leventhal็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ไปฅๅพŒ๏ฝคๆˆไบบใซใŠใ„ใฆใฏๆŽ’ๅต้šœๅฎณใ‚’ไผดใ†็—‡ๅ€™็พคใจใ—ใฆไธ€่ˆฌๅŒ–ใ—ใŸใŒใ€ๅฟ…ใšใ—ใ‚‚็‰นๅพด็š„ๅพดๅ€™ใ‚’ๆœ‰ใ•ใชใ„PCOS็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๅŸบๆบ–ใŒๆ›–ๆ˜งใจใชใฃใฆใ„ใŸใ€‚ๆตทๅค–ใงใฏ1990ๅนดใซNIHใŒๆŽ’ๅต้šœๅฎณใจ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใฎไบŒใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†่จบๆ–ญๅŸบๆบ–ใ‚’ไฝœๆˆใ—ใ€2003ๅนดใซESHRE/ASRMใฎใ€ใ„ใ‚ใ‚†ใ‚‹Rotterdam CriteriaใŒ็ญ–ๅฎšใ•ใ‚Œใ€ๆŽ’ๅต้šœๅฎณใ€้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎใ†ใกไบŒใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจใ—ใ€ใ“ใ‚ŒใŒไธ–็•Œ็š„ใซใฏๆœ€ใ‚‚ๅคšใไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2009ๅนดใซใฏAES๏ผˆAndrogen Excess Society๏ผ‰ใŒ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ‚’่ชใ‚ใชใ„PCOSใฎๅญ˜ๅœจใซ็–‘ๅ•ใ‚’ๅ‘ˆใ—ใ€ๆœชใ ่ญฐ่ซ–ใฏ็ถ™็ถšใ—ใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆ–นๆœฌ้‚ฆใงใฏใ€ๆฌง็ฑณใจใฎ่กจ็พๅž‹ใŒ็•ฐใชใ‚‹ใ“ใจใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€็‰นใซ่‚ฅๆบ€ใ‚’ไผดใ†ไพ‹ใŒๅฐ‘ใชใ„ใ“ใจใ€ๆฑใ‚ขใ‚ธใ‚ข็ณปใงใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใงใ‚‚ๅคšๆฏ›ใ‚’ๆฅใ•ใชใ„ไพ‹ใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€ๆฌง็ฑณใฎๅฎš็พฉใ‚’ใใฎใพใพๅฝ“ใฆใฏใ‚ใ‚‹ใ“ใจใซใฏ็„ก็†ใŒใ‚ใฃใŸใ€‚ใใ“ใงๆ—ฅๆœฌ็”ฃๅฉฆไบบ็ง‘ๅญฆไผšใฏใ€1993ๅนดใซ็”ŸๅŒ–ๅญฆใƒ‡ใƒผใ‚ฟใ‚’็››ใ‚Š่พผใฟ๏ฝคๆŽ’ๅต้šœๅฎณใ€้ซ˜LHใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ใ—ใ‹ใ—ใ€LHๆธฌๅฎš็ณปใฎๅ•้กŒใชใฉใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ€2007ๅนดใซใฏใ“ใ‚Œใ‚’ๆ”นๅฎšใ—ใ€ๆœˆ็ตŒ็•ฐๅธธ๏ผˆๆŽ’ๅต้šœๅฎณ๏ผ‰ใ€้ซ˜LHใพใŸใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใ€ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ + NANDO:2200409 + Polycystic ovary syndrome + ใŸใฎใ†ใปใ†ใ›ใ„ใ‚‰ใ‚“ใใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค - + ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค - - 88 - 45,Xใ‚’ไปฃ่กจใจใ™ใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใง๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใƒขใƒŽใ‚ฝใƒŸใƒผใฎไป–ใซ๏ผŒi(Xq), Xp-, Yp-ใชใฉใฎๆง‹้€ ็•ฐๅธธ๏ผŒใŠใ‚ˆใณ๏ผŒ็จฎใ€…ใฎใƒขใ‚ถใ‚คใ‚ฏใชใฉใŒๅซใพใ‚Œใ‚‹๏ผŽ่‡จๅบŠ็š„ใซใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ง่…บ็•ฐๅฝขๆˆ๏ผŒ็‰นๅพด็š„ๅฅ‡ๅฝขๅพดๅ€™ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œ๏ผŒใพใŸ๏ผŒ้ซ˜ๅบฆใฎๆต็”ฃ็Ž‡ใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽ็พๅœจ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใฎๆญฃ็ขบใชๅฎš็พฉใฏใชใ„ใŒ๏ผŒ้€šๅธธใฎๆŸ“่‰ฒไฝ“ๆคœๆŸปใง่ช่ญ˜ใ•ใ‚Œใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธใจไธŠ่จ˜ใฎ่‡จๅบŠ็—‡็Šถใฎๅฐ‘ใชใใจใ‚‚๏ผ‘ใคใŒๅญ˜ๅœจใ™ใ‚‹ใจใ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ—ใฆใ‚ˆใ„ใจ่€ƒใˆใ‚‹๏ผŽ็‰นใซ๏ผŒๅพŒ่ฟฐใฎใ‚ˆใ†ใซใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค็™บ็—‡ใฎ่ฒฌไปป้บไผๅญใฏXๆŸ“่‰ฒไฝ“็Ÿญ่…•ใจYๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซๅญ˜ๅœจใ™ใ‚‹ใŸใ‚๏ผŒๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆฌ ๅคฑใจ็‰นๅพด็š„่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใฏ่จบๆ–ญ็‰น็•ฐ็š„ใงใ‚ใ‚‹๏ผŽใ“ใฎๆ–‡่„ˆใ‹ใ‚‰SHOXใ‚’ๅซใ‚€ๆŸ“่‰ฒไฝ“ๆคœๆŸปใงๆคœๅ‡บใงใใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎๅพฎๅฐๆฌ ๅคฑใฏใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใŒ๏ผŒๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒๅญ˜ๅœจใ—ใฆใ‚‚่‡จๅบŠ็—‡็ŠถใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑ๏ผ‰ใ‚„๏ผŒ่‡จๅบŠ็—‡็ŠถใŒๅญ˜ๅœจใ—ใฆใ‚‚ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšSHOXใ‚’ๅซใ‚€ๅพฎๅฐๆฌ ๅคฑ๏ผ‰ใซใฏ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจใ„ใ†่จบๆ–ญใฏ้ฟใ‘ใ‚‹ในใใง๏ผŒๅ‰่€…ใฏXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑใซใ‚ˆใ‚‹ไบŒๆฌกๆ€ง็„กๆœˆ็ตŒ๏ผŒๅพŒ่€…ใฏ๏ผŒSHOX็•ฐๅธธ็—‡ใจ่จบๆ–ญใ™ใ‚‹๏ผŽ - 2200410 - + + 88 + 45,Xใ‚’ไปฃ่กจใจใ™ใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใง๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใƒขใƒŽใ‚ฝใƒŸใƒผใฎไป–ใซ๏ผŒi(Xq), Xp-, Yp-ใชใฉใฎๆง‹้€ ็•ฐๅธธ๏ผŒใŠใ‚ˆใณ๏ผŒ็จฎใ€…ใฎใƒขใ‚ถใ‚คใ‚ฏใชใฉใŒๅซใพใ‚Œใ‚‹๏ผŽ่‡จๅบŠ็š„ใซใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ง่…บ็•ฐๅฝขๆˆ๏ผŒ็‰นๅพด็š„ๅฅ‡ๅฝขๅพดๅ€™ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œ๏ผŒใพใŸ๏ผŒ้ซ˜ๅบฆใฎๆต็”ฃ็Ž‡ใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽ็พๅœจ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใฎๆญฃ็ขบใชๅฎš็พฉใฏใชใ„ใŒ๏ผŒ้€šๅธธใฎๆŸ“่‰ฒไฝ“ๆคœๆŸปใง่ช่ญ˜ใ•ใ‚Œใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธใจไธŠ่จ˜ใฎ่‡จๅบŠ็—‡็Šถใฎๅฐ‘ใชใใจใ‚‚๏ผ‘ใคใŒๅญ˜ๅœจใ™ใ‚‹ใจใ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ—ใฆใ‚ˆใ„ใจ่€ƒใˆใ‚‹๏ผŽ็‰นใซ๏ผŒๅพŒ่ฟฐใฎใ‚ˆใ†ใซใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค็™บ็—‡ใฎ่ฒฌไปป้บไผๅญใฏXๆŸ“่‰ฒไฝ“็Ÿญ่…•ใจYๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซๅญ˜ๅœจใ™ใ‚‹ใŸใ‚๏ผŒๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆฌ ๅคฑใจ็‰นๅพด็š„่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใฏ่จบๆ–ญ็‰น็•ฐ็š„ใงใ‚ใ‚‹๏ผŽใ“ใฎๆ–‡่„ˆใ‹ใ‚‰SHOXใ‚’ๅซใ‚€ๆŸ“่‰ฒไฝ“ๆคœๆŸปใงๆคœๅ‡บใงใใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎๅพฎๅฐๆฌ ๅคฑใฏใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใŒ๏ผŒๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒๅญ˜ๅœจใ—ใฆใ‚‚่‡จๅบŠ็—‡็ŠถใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑ๏ผ‰ใ‚„๏ผŒ่‡จๅบŠ็—‡็ŠถใŒๅญ˜ๅœจใ—ใฆใ‚‚ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšSHOXใ‚’ๅซใ‚€ๅพฎๅฐๆฌ ๅคฑ๏ผ‰ใซใฏ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจใ„ใ†่จบๆ–ญใฏ้ฟใ‘ใ‚‹ในใใง๏ผŒๅ‰่€…ใฏXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑใซใ‚ˆใ‚‹ไบŒๆฌกๆ€ง็„กๆœˆ็ตŒ๏ผŒๅพŒ่€…ใฏ๏ผŒSHOX็•ฐๅธธ็—‡ใจ่จบๆ–ญใ™ใ‚‹๏ผŽ + NANDO:2200410 + Turner syndrome + ใŸใƒผใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค - + Turner็—‡ๅ€™็พค ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค - - 91 - ใƒ—ใƒฉใƒ€ใƒผใ‚ฆใ‚คใƒชใƒผ็—‡ๅ€™็พค๏ผˆPWS๏ผ‰ใฏใ€1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚คใƒชใƒผใŒๅ ฑๅ‘Šใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธใซใฏ่‚ฅๆบ€ใ€็ณ–ๅฐฟ็—…ใ€ไฝŽ่บซ้•ทใ€ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใชใฉใŒใ€็ฅž็ตŒๅญฆ็š„็•ฐๅธธใซใฏ็™บ้”้…ๆปžใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€็‰น็•ฐใชๆ€งๆ ผ้šœๅฎณใƒป่กŒๅ‹•็•ฐๅธธใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ - 2200411 - + + 91 + ใƒ—ใƒฉใƒ€ใƒผใ‚ฆใ‚คใƒชใƒผ็—‡ๅ€™็พค๏ผˆPWS๏ผ‰ใฏใ€1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚คใƒชใƒผใŒๅ ฑๅ‘Šใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธใซใฏ่‚ฅๆบ€ใ€็ณ–ๅฐฟ็—…ใ€ไฝŽ่บซ้•ทใ€ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใชใฉใŒใ€็ฅž็ตŒๅญฆ็š„็•ฐๅธธใซใฏ็™บ้”้…ๆปžใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€็‰น็•ฐใชๆ€งๆ ผ้šœๅฎณใƒป่กŒๅ‹•็•ฐๅธธใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200411 + Prader-Willi syndrome + ใทใ‚‰ใ ใƒผใƒปใ†ใƒใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค + - + Prader-Willi็—‡ๅ€™็พค ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค - - 92 - ็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใ€็ทš็ถญๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅพดๅ€™ใŒๆ˜Žใ‚‰ใ‹ใชๅ ดๅˆใจใ€ๅพใ€…ใซ่‡จๅบŠ็—‡็ŠถใŒ็พใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚Šใ€ไธ‰ไธปๅพดใŒใ™ในใฆๆƒใ‚ใชใ„ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚10ๆญณไปฅไธ‹ใฎๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใฏๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š่ชใ‚ใ‚‹ใ€‚ - 2200412 - + + 92 + ็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใ€็ทš็ถญๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅพดๅ€™ใŒๆ˜Žใ‚‰ใ‹ใชๅ ดๅˆใจใ€ๅพใ€…ใซ่‡จๅบŠ็—‡็ŠถใŒ็พใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚Šใ€ไธ‰ไธปๅพดใŒใ™ในใฆๆƒใ‚ใชใ„ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚10ๆญณไปฅไธ‹ใฎๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใฏๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š่ชใ‚ใ‚‹ใ€‚ + NANDO:2200412 + McCune-Albright syndrome + ใพใฃใใ‚…ใƒผใ‚“ใƒปใŠใ‚‹ใถใ‚‰ใ„ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค + - + McCune-Albright็—‡ๅ€™็พค ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค - - 89 - ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พคใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ๆ˜ฅๆœŸ้…็™บ๏ผŒๅฟƒๅฅ‡ๅฝข๏ผŒ็‰นๅพด็š„ๅค–่กจๅฅ‡ๅฝข๏ผˆ็œผ้–“ไน–้›ข๏ผŒ็ฟผ็Šถ้ š๏ผŒๅค–ๅ่‚˜ใชใฉ๏ผ‰ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅ…ˆๅคฉๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹๏ผŽ็Ÿฅ่ƒฝไฝŽไธ‹๏ผŒ้›ฃ่ด๏ผŒๅ‡บ่ก€ๆ€ง็ด ๅ› ๏ผŒ็”ทๅ…ๅค–ๆ€งๅ™จๅฝขๆˆ้šœๅฎณใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œ๏ผŒ่ƒŽๅ…ๆฐด่…ซใ‚„็™ฝ่ก€็—…๏ผˆ็‰นใซjuvenile myelomonocytic leukemia, JMML๏ผ‰ใ€ใ•ใ‚‰ใซใฏๅ›บๅฝข่…ซ็˜ใ‚‚ใจใใซๅ‡บ็พใ™ใ‚‹๏ผŽ - 2200413 - + + 89 + ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พคใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ๆ˜ฅๆœŸ้…็™บ๏ผŒๅฟƒๅฅ‡ๅฝข๏ผŒ็‰นๅพด็š„ๅค–่กจๅฅ‡ๅฝข๏ผˆ็œผ้–“ไน–้›ข๏ผŒ็ฟผ็Šถ้ š๏ผŒๅค–ๅ่‚˜ใชใฉ๏ผ‰ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅ…ˆๅคฉๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹๏ผŽ็Ÿฅ่ƒฝไฝŽไธ‹๏ผŒ้›ฃ่ด๏ผŒๅ‡บ่ก€ๆ€ง็ด ๅ› ๏ผŒ็”ทๅ…ๅค–ๆ€งๅ™จๅฝขๆˆ้šœๅฎณใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œ๏ผŒ่ƒŽๅ…ๆฐด่…ซใ‚„็™ฝ่ก€็—…๏ผˆ็‰นใซjuvenile myelomonocytic leukemia, JMML๏ผ‰ใ€ใ•ใ‚‰ใซใฏๅ›บๅฝข่…ซ็˜ใ‚‚ใจใใซๅ‡บ็พใ™ใ‚‹๏ผŽ + NANDO:2200413 + Noonan syndrome + ใฌใƒผใชใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค - - + - + Noonan็—‡ๅ€™็พค - ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค - - 90 - ๆœฌ็–พๆ‚ฃใฏ่‚ฅๆบ€ใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ€ๆ…ขๆ€ง่…Ž้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅคšๆŒ‡็—‡ใƒปๅˆๆŒ‡็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹่‚็กฌๅค‰ใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใƒญใƒผใƒฌใƒณใ‚นใƒปใƒ ใƒผใƒณใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒ ๅคšใ„ใŒใ€ใใ‚Œใฏไธ–็•Œ็š„ใซใฏ่‚ฅๆบ€ใฎใชใ„ๅˆฅใฎ็–พๆ‚ฃใ‚’ๆŒ‡ใ™ใจใ•ใ‚Œใ‚‹ใ€‚้€šๅธธใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่จบๆ–ญใ•ใ‚Œใ‚‹ใŒใ€ๆ™‚ใซๆˆไบบใซใชใฃใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200414 - + + 90 + ๆœฌ็–พๆ‚ฃใฏ่‚ฅๆบ€ใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ€ๆ…ขๆ€ง่…Ž้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅคšๆŒ‡็—‡ใƒปๅˆๆŒ‡็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹่‚็กฌๅค‰ใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใƒญใƒผใƒฌใƒณใ‚นใƒปใƒ ใƒผใƒณใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒ ๅคšใ„ใŒใ€ใใ‚Œใฏไธ–็•Œ็š„ใซใฏ่‚ฅๆบ€ใฎใชใ„ๅˆฅใฎ็–พๆ‚ฃใ‚’ๆŒ‡ใ™ใจใ•ใ‚Œใ‚‹ใ€‚้€šๅธธใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่จบๆ–ญใ•ใ‚Œใ‚‹ใŒใ€ๆ™‚ใซๆˆไบบใซใชใฃใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200414 + Bardet-Biedl syndrome + ใฐใ‚‹ใงใƒผใƒปใณใƒผใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค - + - + Bardet-Biedl็—‡ๅ€™็พค - ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค - - 8 - ไปฅๅ‰ใฏ ่‹ฅๅนดๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจๅ‘ผใฐใ‚ŒใŸ็—…ๆ…‹ใ‚’ๅซใ‚€ใ€‚ๅ›ฝ้š›ใƒชใ‚ฆใƒžใƒๅญฆไผš๏ผˆInternational Leagues of associations for Rheumatism: ILAR๏ผ‰ใฎๅฐๅ…ใƒชใ‚ฆใƒžใƒๅธธไปปๅง”ๅ“กไผšใŒ1994ๅนดใฎSantiagoไผš่ญฐใซใŠใ„ใฆใ€Œ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—ใ€6้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้–ข็ฏ€็‚Žใงใ€ไป–ใฎ็—…ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใ€ใ‚’่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis: JIA๏ผ‰ใจๅฎš็พฉใ—ใŸใ€‚ใใฎๅพŒ1997ๅนดใฎDurbanๆ”น่จ‚ใ€2001ๅนดใฎEdmontonๆ”น่จ‚ใ‚’็ตŒใฆใ€็พๅœจILARๅˆ†้กžใฏๅฐๅ…ใฎๆ…ขๆ€ง้–ข็ฏ€็‚Žใฎๅ›ฝ้š›ๅŸบๆบ–ใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€ILARๅˆ†้กžใฏJIAใ‚’ไธ‹่จ˜ใฎ7็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€€ๆœฌ้‚ฆใซใŠใ„ใฆใ‚‚ใ€ๆ—ฅๆœฌๅฐๅ…ใƒชใ‚ฆใƒžใƒๅญฆไผšใŒไธŠ่จ˜ๅˆ†้กžใซใ‚‚ใจใฅใใ€Œ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽๅˆๆœŸ่จบ็™‚ใฎๆ‰‹ๅผ•ใ๏ผˆ2007ๅนด๏ผ‰ใ€ใ‚’ไฝœๆˆใ—ใŸใ€‚ใ—ใ‹ใ—ใ€็™บ็—‡ๆ—ฉๆœŸใซใฏILARๅˆ†้กžใ‚’็”จใ„ใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใŸใ‚ใ€ๆœฌ้‚ฆใฎๅฐๅ…่จบ็™‚ใฎๅฎŸๆƒ…ใซๅˆใ‚ใ›ใ€ๆ–ฐใŸใซใ€Ž่จบๆ–ญใฎๆ‰‹ๅผ•ใใ€ใ‚’็ญ–ๅฎšใ—ใŸใ€‚่กจ๏ผš่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽILARๅˆ†้กž๏ผˆ2001๏ผ‰ - 2200415 - - juvenile idiopathic arthritis + + 8 + ไปฅๅ‰ใฏ ่‹ฅๅนดๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจๅ‘ผใฐใ‚ŒใŸ็—…ๆ…‹ใ‚’ๅซใ‚€ใ€‚ๅ›ฝ้š›ใƒชใ‚ฆใƒžใƒๅญฆไผš๏ผˆInternational Leagues of associations for Rheumatism: ILAR๏ผ‰ใฎๅฐๅ…ใƒชใ‚ฆใƒžใƒๅธธไปปๅง”ๅ“กไผšใŒ1994ๅนดใฎSantiagoไผš่ญฐใซใŠใ„ใฆใ€Œ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—ใ€6้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้–ข็ฏ€็‚Žใงใ€ไป–ใฎ็—…ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใ€ใ‚’่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis: JIA๏ผ‰ใจๅฎš็พฉใ—ใŸใ€‚ใใฎๅพŒ1997ๅนดใฎDurbanๆ”น่จ‚ใ€2001ๅนดใฎEdmontonๆ”น่จ‚ใ‚’็ตŒใฆใ€็พๅœจILARๅˆ†้กžใฏๅฐๅ…ใฎๆ…ขๆ€ง้–ข็ฏ€็‚Žใฎๅ›ฝ้š›ๅŸบๆบ–ใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€ILARๅˆ†้กžใฏJIAใ‚’ไธ‹่จ˜ใฎ7็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€€ๆœฌ้‚ฆใซใŠใ„ใฆใ‚‚ใ€ๆ—ฅๆœฌๅฐๅ…ใƒชใ‚ฆใƒžใƒๅญฆไผšใŒไธŠ่จ˜ๅˆ†้กžใซใ‚‚ใจใฅใใ€Œ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽๅˆๆœŸ่จบ็™‚ใฎๆ‰‹ๅผ•ใ๏ผˆ2007ๅนด๏ผ‰ใ€ใ‚’ไฝœๆˆใ—ใŸใ€‚ใ—ใ‹ใ—ใ€็™บ็—‡ๆ—ฉๆœŸใซใฏILARๅˆ†้กžใ‚’็”จใ„ใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใŸใ‚ใ€ๆœฌ้‚ฆใฎๅฐๅ…่จบ็™‚ใฎๅฎŸๆƒ…ใซๅˆใ‚ใ›ใ€ๆ–ฐใŸใซใ€Ž่จบๆ–ญใฎๆ‰‹ๅผ•ใใ€ใ‚’็ญ–ๅฎšใ—ใŸใ€‚่กจ๏ผš่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽILARๅˆ†้กž๏ผˆ2001๏ผ‰ + NANDO:2200415 + + Juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž + - - + JIA ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž - - 9 - ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นsystemic lupus erythematosus (SLE)ใฏใ€็ด…ๆ–‘ๆ€ง็‹ผ็˜ก๏ผˆใ“ใ†ใฏใ‚“ใ›ใ„ใ‚ใ†ใใ†๏ผ‰lupus erythematosusใจใ‚ˆใฐใ‚Œใ‚‹็šฎ็–นใ‚’็‰นๅพดใจใ—ใ€็™บ็†ฑใ‚„ๅ€ฆๆ€ ๆ„Ÿใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚Šใ€ๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใ‹ใ‚‰ใชใ‚‹ๅ…็–ซ่ค‡ๅˆไฝ“ใŒ่ก€็ฎกใซๆฒˆ็€ใ—ใ€่ฃœไฝ“็ณปใ‚’ๆดปๆ€งๅŒ–ใ—ใฆ่ก€็ฎกใ‚„็ต„็น”ใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ“ใจใงใ€็šฎ่†š(็šฎ็–น)ใ€่…Ž่‡“(ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž)ใ€ไธญๆžข็ฅž็ตŒ็ณป(CNSใƒซใƒผใƒ—ใ‚น)ใชใฉใซๅคšๅฝฉใช่‡“ๅ™จ็—…ๅค‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใ€€ๅฐๅ…SLEใจใฏ16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใŒใ€ๆˆไบบไพ‹ใจๆฏ”ในใฆไธ€่ˆฌใซ็ตŒ้Žใฏๆ€ฅๆ€งใง้‡็—‡ไพ‹ใŒๅคšใ„ใ€‚ - 2200416 - + + 9 + ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นsystemic lupus erythematosus (SLE)ใฏใ€็ด…ๆ–‘ๆ€ง็‹ผ็˜ก๏ผˆใ“ใ†ใฏใ‚“ใ›ใ„ใ‚ใ†ใใ†๏ผ‰lupus erythematosusใจใ‚ˆใฐใ‚Œใ‚‹็šฎ็–นใ‚’็‰นๅพดใจใ—ใ€็™บ็†ฑใ‚„ๅ€ฆๆ€ ๆ„Ÿใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚Šใ€ๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใ‹ใ‚‰ใชใ‚‹ๅ…็–ซ่ค‡ๅˆไฝ“ใŒ่ก€็ฎกใซๆฒˆ็€ใ—ใ€่ฃœไฝ“็ณปใ‚’ๆดปๆ€งๅŒ–ใ—ใฆ่ก€็ฎกใ‚„็ต„็น”ใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ“ใจใงใ€็šฎ่†š(็šฎ็–น)ใ€่…Ž่‡“(ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž)ใ€ไธญๆžข็ฅž็ตŒ็ณป(CNSใƒซใƒผใƒ—ใ‚น)ใชใฉใซๅคšๅฝฉใช่‡“ๅ™จ็—…ๅค‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใ€€ๅฐๅ…SLEใจใฏ16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใŒใ€ๆˆไบบไพ‹ใจๆฏ”ในใฆไธ€่ˆฌใซ็ตŒ้Žใฏๆ€ฅๆ€งใง้‡็—‡ไพ‹ใŒๅคšใ„ใ€‚ + NANDO:2200416 + systemic lupus erythematosus + ใœใ‚“ใ—ใ‚“ใ›ใ„ใˆใ‚Šใฆใพใจใƒผใงใ™ ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น + - - + SLE ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น - - 10 - ่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž(JDM)ใฏ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—็‰นๅพด็š„ใช็šฎ็–นใจๅฏพ็งฐ็š„็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็šฎ่†šใŠใ‚ˆใณ็ญ‹่‚‰ใฎ็—‡็ŠถใŒๅ…ฑใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใฏๅคๅ…ธ็š„JDMใจใ™ใ‚‹๏ผŽJDMใฏ็—…ๆ…‹ใ‚„ไบˆๅพŒใชใฉใฎ้•ใ„ใ‹ใ‚‰ๆˆไบบใฎ็šฎ่†š็ญ‹็‚Ž(DM)ใจใฏๅˆ†ใ‘ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽๅ…ธๅž‹็š„ใช็šฎ่†šๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใชใŒใ‚‰ๆ˜Žใ‚‰ใ‹ใช็ญ‹็—‡็Šถใ‚’่ชใ‚ใชใ„ใ‚‚ใฎ่‹ฅๅนด็™บ็—‡่‡จๅบŠ็š„็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž(juvenile-onset clinically amyopathic dermatomyositis,JCADM)ใจใ•ใ‚Œ๏ผŒใ“ใ‚ŒใซใฏๆคœๆŸปไธŠ็ญ‹็‚Žใ‚’็คบใ™ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใจ่ชใ‚ใชใ„ๅ ดๅˆใŒใ‚ใ‚‹(่‡จๅบŠ็—‡็Šถใฎ้ …ใ‚’ๅ‚็…ง)๏ผŽใพใŸ็‚Ž็—‡ๆ€ง็ญ‹็‚Žใ‚’ๅ‘ˆใ—ใชใŒใ‚‰็šฎ่†š็—‡็Šถใ‚’ๆฌ ใใ‚‚ใฎใฏ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž(JPM)ใจใ•ใ‚Œใ‚‹ใŒๅฐๅ…ใซใŠใ„ใฆใฏใพใ‚Œใงใ‚ใ‚‹๏ผŽ - 2200417 - + + 10 + ่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž(JDM)ใฏ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—็‰นๅพด็š„ใช็šฎ็–นใจๅฏพ็งฐ็š„็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็šฎ่†šใŠใ‚ˆใณ็ญ‹่‚‰ใฎ็—‡็ŠถใŒๅ…ฑใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใฏๅคๅ…ธ็š„JDMใจใ™ใ‚‹๏ผŽJDMใฏ็—…ๆ…‹ใ‚„ไบˆๅพŒใชใฉใฎ้•ใ„ใ‹ใ‚‰ๆˆไบบใฎ็šฎ่†š็ญ‹็‚Ž(DM)ใจใฏๅˆ†ใ‘ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽๅ…ธๅž‹็š„ใช็šฎ่†šๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใชใŒใ‚‰ๆ˜Žใ‚‰ใ‹ใช็ญ‹็—‡็Šถใ‚’่ชใ‚ใชใ„ใ‚‚ใฎ่‹ฅๅนด็™บ็—‡่‡จๅบŠ็š„็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž(juvenile-onset clinically amyopathic dermatomyositis,JCADM)ใจใ•ใ‚Œ๏ผŒใ“ใ‚ŒใซใฏๆคœๆŸปไธŠ็ญ‹็‚Žใ‚’็คบใ™ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใจ่ชใ‚ใชใ„ๅ ดๅˆใŒใ‚ใ‚‹(่‡จๅบŠ็—‡็Šถใฎ้ …ใ‚’ๅ‚็…ง)๏ผŽใพใŸ็‚Ž็—‡ๆ€ง็ญ‹็‚Žใ‚’ๅ‘ˆใ—ใชใŒใ‚‰็šฎ่†š็—‡็Šถใ‚’ๆฌ ใใ‚‚ใฎใฏ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž(JPM)ใจใ•ใ‚Œใ‚‹ใŒๅฐๅ…ใซใŠใ„ใฆใฏใพใ‚Œใงใ‚ใ‚‹๏ผŽ + NANDO:2200417 + juvenile dermatomyositis, polymyositis + ใฒใตใใ‚“ใˆใ‚“๏ผใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“ ็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž - + - + ็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž - - 10 - 2200418 - + + 10 + NANDO:2200418 + juvenile dermatomyositis - ็šฎ่†š็ญ‹็‚Ž + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใฒใตใใ‚“ใˆใ‚“ + ่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž - - DM + JDM - - - ็šฎ่†š็ญ‹็‚Ž + ่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž - - 10 - 2200419 - + + 10 + NANDO:2200419 + juvenile polymyositis - ๅคš็™บๆ€ง็ญ‹็‚Ž - + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใŸใฏใคใ›ใ„ใฒใตใใ‚“ใˆใ‚“ + ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž - + JPM - PM - - - - ๅคš็™บๆ€ง็ญ‹็‚Ž + ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž - - 7 - ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค (Sjรถgrenโ€™s syndrome: ไปฅไธ‹SS)ใฏใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซๅ‚ทๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ๅ…จ่บซๆ€งใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅค–ๅˆ†ๆณŒ่…บ็—‡ (autoimmune exocrinopathy)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บใฎไธญใงใ‚‚ๆถ™่…บใƒปๅ”พๆถฒ่…บใฎ้šœๅฎณใŒไธปใงใ€้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚Œใฐใ€ๆถ™ๆถฒๅˆ†ๆณŒใฎไฝŽไธ‹ใซใ‚ˆใ‚‹็œผใฎไนพ็‡ฅใ€ๅ”พๆถฒๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹ๅฃใฎไนพ็‡ฅใชใฉใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็—‡็Šถใฏใ‹ใชใ‚‰ใšใ—ใ‚‚่‡ช่ฆš็—‡็Šถใจใชใ‚‹ใ‚ใ‘ใงใชใใ€็พžๆ˜Žๆ„Ÿใ€็œผใฎ็•ฐ็‰ฉๆ„Ÿใ€ใ†ๆญฏใฎๅข—ๅŠ ใ€ๅฃๅ†…็‚Žใฎๅคš็™บใชใฉใฎ็—‡็Šถใจใ—ใฆ่กจใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใง็จฎใ€…ใฎ่‡ชๅทฑๆŠ—ไฝ“ใฎ็”ฃ็”ŸใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณๅ€คใŒ้ซ˜ๅ€คใจใชใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใจใ—ใฆใฏๆŠ—ๆ ธๆŠ—ไฝ“(ๆ–‘็ด‹ๅž‹)ใ€ๆŠ—SS-A/RoๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒๅ› ๅญใฎ้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ€‚ๆŠ—SS-B/LaๆŠ—ไฝ“ใฏSSใซ็‰น็•ฐๆ€งใฏ้ซ˜ใ„ใจใ•ใ‚Œใ‚‹ใŒใ€้™ฝๆ€ง็Ž‡ใฏใใ‚Œใปใฉ้ซ˜ใใชใ„ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บ้šœๅฎณไปฅๅค–ใซใ‚‚็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้šœๅฎณใŒๅค–ๅˆ†ๆณŒ่…บใซ้™ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚’่…บๅž‹SSใ€ๅค–ๅˆ†ๆณŒ่…บไปฅๅค–ใฎ่‡“ๅ™จใซ้šœๅฎณใŒใ‚ใ‚‹ไพ‹ใ‚’่…บๅค–ๅž‹SSใจๅ‘ผใถใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉ็จฎใ€…ใฎ่† ๅŽŸ็—…ใจๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€่† ๅŽŸ็—…ใฎๅˆไฝตใฎใชใ„ไพ‹ใ‚’ไธ€ๆฌกๆ€งSSใ€่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไพ‹ใ‚’ไบŒๆฌกๆ€งSSใจๅ‘ผใถใ€‚ - 2200420 - + + 7 + ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค (Sjรถgrenโ€™s syndrome: ไปฅไธ‹SS)ใฏใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซๅ‚ทๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ๅ…จ่บซๆ€งใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅค–ๅˆ†ๆณŒ่…บ็—‡ (autoimmune exocrinopathy)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บใฎไธญใงใ‚‚ๆถ™่…บใƒปๅ”พๆถฒ่…บใฎ้šœๅฎณใŒไธปใงใ€้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚Œใฐใ€ๆถ™ๆถฒๅˆ†ๆณŒใฎไฝŽไธ‹ใซใ‚ˆใ‚‹็œผใฎไนพ็‡ฅใ€ๅ”พๆถฒๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹ๅฃใฎไนพ็‡ฅใชใฉใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็—‡็Šถใฏใ‹ใชใ‚‰ใšใ—ใ‚‚่‡ช่ฆš็—‡็Šถใจใชใ‚‹ใ‚ใ‘ใงใชใใ€็พžๆ˜Žๆ„Ÿใ€็œผใฎ็•ฐ็‰ฉๆ„Ÿใ€ใ†ๆญฏใฎๅข—ๅŠ ใ€ๅฃๅ†…็‚Žใฎๅคš็™บใชใฉใฎ็—‡็Šถใจใ—ใฆ่กจใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใง็จฎใ€…ใฎ่‡ชๅทฑๆŠ—ไฝ“ใฎ็”ฃ็”ŸใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณๅ€คใŒ้ซ˜ๅ€คใจใชใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใจใ—ใฆใฏๆŠ—ๆ ธๆŠ—ไฝ“(ๆ–‘็ด‹ๅž‹)ใ€ๆŠ—SS-A/RoๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒๅ› ๅญใฎ้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ€‚ๆŠ—SS-B/LaๆŠ—ไฝ“ใฏSSใซ็‰น็•ฐๆ€งใฏ้ซ˜ใ„ใจใ•ใ‚Œใ‚‹ใŒใ€้™ฝๆ€ง็Ž‡ใฏใใ‚Œใปใฉ้ซ˜ใใชใ„ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บ้šœๅฎณไปฅๅค–ใซใ‚‚็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้šœๅฎณใŒๅค–ๅˆ†ๆณŒ่…บใซ้™ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚’่…บๅž‹SSใ€ๅค–ๅˆ†ๆณŒ่…บไปฅๅค–ใฎ่‡“ๅ™จใซ้šœๅฎณใŒใ‚ใ‚‹ไพ‹ใ‚’่…บๅค–ๅž‹SSใจๅ‘ผใถใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉ็จฎใ€…ใฎ่† ๅŽŸ็—…ใจๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€่† ๅŽŸ็—…ใฎๅˆไฝตใฎใชใ„ไพ‹ใ‚’ไธ€ๆฌกๆ€งSSใ€่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไพ‹ใ‚’ไบŒๆฌกๆ€งSSใจๅ‘ผใถใ€‚ + NANDO:2200420 + Sjogren's syndrome + ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค + - - + Sjogren็—‡ๅ€™็พค Sjรถgren's Syndrome ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค - - 6 - ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคใฏใ€ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฎๅญ˜ๅœจไธ‹ใซ่ก€ๆ “ๅ‚พๅ‘ใŒๅข—ใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏๅ‹•้™่„ˆ่ก€ๆ “็—‡ใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฏใƒชใƒณ่„‚่ณชใพใŸใฏใƒชใƒณ่„‚่ณชใจ่›‹็™ฝใฎ่ค‡ๅˆไฝ“ใซ็ตๅˆใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใฎ็ท็งฐใงใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใ‚„็”Ÿ็‰ฉๅญฆ็š„ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€่‡จๅบŠ่จบๆ–ญใซใฏๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณฮฒ2-ใ‚ฐใƒชใ‚ณใƒ—ใƒญใƒ†ใ‚คใƒณโ… ๏ผˆaPLฮฒ2GPI๏ผ‰ๆŠ—ไฝ“ใ‚‚ใ—ใใฏใƒซใƒผใƒ—ใ‚นใ‚ขใƒณใƒใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆ๏ผˆLA๏ผ‰ใฎๅญ˜ๅœจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ใ€€ๅ˜็‹ฌใง็™บ็—‡ใ—ใŸ็—‡ไพ‹ใฏๅŽŸ็™บๆ€งAPSใซใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใซไผดใ†ๅ ดๅˆใฏ็ถš็™บๆ€งAPSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚APSใฎ็‰นๆฎŠๅž‹ใจใ—ใฆใ€ๅคš่‡“ๅ™จใซๅพฎๅฐ่ก€ๆ “ใ‚’ใใŸใ—ๆ€ฅ้€Ÿใซๅคš่‡“ๅ™จไธๅ…จใซ้™ฅใ‚‹ใ€่‡ดๆญป็Ž‡ใŒ้ซ˜ใ„ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค(Catastrophic APS)ใŒใ‚ใ‚‹ใ€‚ - 2200421 - + + 6 + ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคใฏใ€ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฎๅญ˜ๅœจไธ‹ใซ่ก€ๆ “ๅ‚พๅ‘ใŒๅข—ใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏๅ‹•้™่„ˆ่ก€ๆ “็—‡ใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฏใƒชใƒณ่„‚่ณชใพใŸใฏใƒชใƒณ่„‚่ณชใจ่›‹็™ฝใฎ่ค‡ๅˆไฝ“ใซ็ตๅˆใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใฎ็ท็งฐใงใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใ‚„็”Ÿ็‰ฉๅญฆ็š„ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€่‡จๅบŠ่จบๆ–ญใซใฏๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณฮฒ2-ใ‚ฐใƒชใ‚ณใƒ—ใƒญใƒ†ใ‚คใƒณโ… ๏ผˆaPLฮฒ2GPI๏ผ‰ๆŠ—ไฝ“ใ‚‚ใ—ใใฏใƒซใƒผใƒ—ใ‚นใ‚ขใƒณใƒใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆ๏ผˆLA๏ผ‰ใฎๅญ˜ๅœจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ใ€€ๅ˜็‹ฌใง็™บ็—‡ใ—ใŸ็—‡ไพ‹ใฏๅŽŸ็™บๆ€งAPSใซใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใซไผดใ†ๅ ดๅˆใฏ็ถš็™บๆ€งAPSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚APSใฎ็‰นๆฎŠๅž‹ใจใ—ใฆใ€ๅคš่‡“ๅ™จใซๅพฎๅฐ่ก€ๆ “ใ‚’ใใŸใ—ๆ€ฅ้€Ÿใซๅคš่‡“ๅ™จไธๅ…จใซ้™ฅใ‚‹ใ€่‡ดๆญป็Ž‡ใŒ้ซ˜ใ„ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค(Catastrophic APS)ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200421 + anti-phospholipid antibody syndrome + ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค + - + + ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค - - 11 - ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏใ€็šฎ่†š็ฒ˜่†œ็—‡็Šถ๏ผˆๅๅพฉใ™ใ‚‹ๅฃๅ†…็‚Žใ€็šฎ่†š็—‡็Šถใ€ๅค–้™ฐ้ƒจๆฝฐ็˜๏ผ‰ใŠใ‚ˆใณ็œผ็—‡็Šถ๏ผˆใถใฉใ†่†œ็‚Ž๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€็‚Ž็—‡ใฎๅข—ๆ‚ชใจๅฏ›่งฃใ‚’ๅๅพฉใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏๆˆไบบไพ‹ใจๆฏ”่ผƒใ—ใฆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใฎๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„๏ผˆ็ด„50๏ผ…๏ผ‰ไธ€ๆ–นใงใ€็šฎ่†š็—‡็Šถ๏ผˆ็ด„60๏ผ…๏ผ‰ใƒปๅค–้™ฐ้ƒจๆฝฐ็˜๏ผˆ็ด„50๏ผ…๏ผ‰ใƒป็œผ็—‡็Šถ๏ผˆ็ด„20๏ผ…๏ผ‰ใฎๅ‡บ็พ้ ปๅบฆใŒๅฐ‘ใชใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ไธ–็•Œไธญใฎๅฐ‚้–€ๅฎถใฎๆ„่ฆ‹ใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใฎๅฎš็พฉใฏๅญ˜ๅœจใ›ใšใ€ๅ›ฝ้š›ๅŸบๆบ–๏ผˆCriteria of the International Study Group for diagnosis BD๏ผ‰ใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆˆไบบใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใ‚’ๅฏพ่ฑกใซไฝœๆˆใ•ใ‚ŒใŸ่ค‡ๆ•ฐใฎ่จบๆ–ญๅŸบๆบ–ใŒๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใงใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใ€ๅŽš็”ŸๅŠดๅƒ็œ ็‰นๅฎš็–พๆ‚ฃใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 2200422 - - Behcetโ€™s disease + + 11 + ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏใ€็šฎ่†š็ฒ˜่†œ็—‡็Šถ๏ผˆๅๅพฉใ™ใ‚‹ๅฃๅ†…็‚Žใ€็šฎ่†š็—‡็Šถใ€ๅค–้™ฐ้ƒจๆฝฐ็˜๏ผ‰ใŠใ‚ˆใณ็œผ็—‡็Šถ๏ผˆใถใฉใ†่†œ็‚Ž๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€็‚Ž็—‡ใฎๅข—ๆ‚ชใจๅฏ›่งฃใ‚’ๅๅพฉใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏๆˆไบบไพ‹ใจๆฏ”่ผƒใ—ใฆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใฎๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„๏ผˆ็ด„50๏ผ…๏ผ‰ไธ€ๆ–นใงใ€็šฎ่†š็—‡็Šถ๏ผˆ็ด„60๏ผ…๏ผ‰ใƒปๅค–้™ฐ้ƒจๆฝฐ็˜๏ผˆ็ด„50๏ผ…๏ผ‰ใƒป็œผ็—‡็Šถ๏ผˆ็ด„20๏ผ…๏ผ‰ใฎๅ‡บ็พ้ ปๅบฆใŒๅฐ‘ใชใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ไธ–็•Œไธญใฎๅฐ‚้–€ๅฎถใฎๆ„่ฆ‹ใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใฎๅฎš็พฉใฏๅญ˜ๅœจใ›ใšใ€ๅ›ฝ้š›ๅŸบๆบ–๏ผˆCriteria of the International Study Group for diagnosis BD๏ผ‰ใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆˆไบบใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใ‚’ๅฏพ่ฑกใซไฝœๆˆใ•ใ‚ŒใŸ่ค‡ๆ•ฐใฎ่จบๆ–ญๅŸบๆบ–ใŒๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใงใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใ€ๅŽš็”ŸๅŠดๅƒ็œ ็‰นๅฎš็–พๆ‚ฃใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200422 + + Behcet's disease + ในใƒผใกใ‡ใฃใจใณใ‚‡ใ† ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… - + + - + Behcet็—… + ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… - - 4 - ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžๅŠใณ่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‹ญ็ช„ใ€้–‰ๅกžๅˆใฏๆ‹กๅผต็—…ๅค‰ใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ๅ…จ่บซ็—‡็Šถใ€็‹ญ็ช„ใชใ„ใ—้–‰ๅกžใ‚’ใใŸใ—ใŸๅ‹•่„ˆใฎ่ก€ๆต้šœๅฎณใซใ‚ˆใ‚‹ๅ„็จฎ่‡“ๅ™จ้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏๆ‹กๅผตใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใชใฉใŒ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ้ƒจไฝใ‚„ๅบƒใŒใ‚Šใซใ‚ˆใฃใฆ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ใ€่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌง็ฑณใงใฏ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไธŠ่‚ข่ก€็ฎกใฎ่„ˆๆ‹ๆฌ ๆใ‚’ไผดใ†ใ“ใจใ‹ใ‚‰ใ€่„ˆใชใ—็—…ใจๅ‘ผใฐใ‚ŒใŸใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใซใฏไบบ็จฎๅทฎใ‚„ๅœฐๅŸŸๅทฎใŒใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็œใฎ็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญใฎๅฏพ่ฑก็–พๆ‚ฃใฎไธ€ใคใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200423 - + + 4 + ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžๅŠใณ่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‹ญ็ช„ใ€้–‰ๅกžๅˆใฏๆ‹กๅผต็—…ๅค‰ใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ๅ…จ่บซ็—‡็Šถใ€็‹ญ็ช„ใชใ„ใ—้–‰ๅกžใ‚’ใใŸใ—ใŸๅ‹•่„ˆใฎ่ก€ๆต้šœๅฎณใซใ‚ˆใ‚‹ๅ„็จฎ่‡“ๅ™จ้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏๆ‹กๅผตใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใชใฉใŒ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ้ƒจไฝใ‚„ๅบƒใŒใ‚Šใซใ‚ˆใฃใฆ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ใ€่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌง็ฑณใงใฏ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไธŠ่‚ข่ก€็ฎกใฎ่„ˆๆ‹ๆฌ ๆใ‚’ไผดใ†ใ“ใจใ‹ใ‚‰ใ€่„ˆใชใ—็—…ใจๅ‘ผใฐใ‚ŒใŸใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใซใฏไบบ็จฎๅทฎใ‚„ๅœฐๅŸŸๅทฎใŒใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็œใฎ็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญใฎๅฏพ่ฑก็–พๆ‚ฃใฎไธ€ใคใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200423 + Takayasu arteritis + ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“ ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + - + + Aortitis syndrome + Takayasu's arteritis ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž - - 5 - Wegener่‚‰่Šฝ่…ซ็—‡ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซๅ…จ่บซใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€งๅค‰ๅŒ–ใ‚’่ชใ‚ใ€็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCAใŒ้–ขไธŽใ™ใ‚‹ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚International Chapel Hill Consensus Conferenceใฎ2012ๅนดๆ”น่จ‚ใงใ€ๅพ“ๆฅใฎWegener่‚‰่Šฝ่…ซ็—‡ใจใ„ใ†ๅ‘ผใณๅใ‹ใ‚‰granulomatosis with polyangitis GPAใซๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚ANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใฎไธ€็–พๆ‚ฃใซๅŒบๅˆ†ใ•ใ‚Œใ€ไธŠไธ‹ๆฐ—้“ใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ใŠใ‚ˆใณๅฐใ‹ใ‚‰ไธญ่ก€็ฎกใ‚’ไธปใซไพตใ™ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’ๆฅใŸใ—ใ€้ซ˜้ ปๅบฆใซๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ‚‚ใฎใจๅ†ๅฎš็พฉใ•ใ‚ŒใŸใ€‚GPAใฏๅ…ƒๆฅใ€็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ใ—ใ‹ใ—ๅฃฐ้–€ไธ‹็‹ญ็ช„ใซไผดใ†ๅ‘ผๅธไธๅ…จใชใฉๆ•‘ๆ€ฅ็–พๆ‚ฃใจใ—ใฆใฎๆ€งๆ ผใ‚„ใ€่‡“ๅ™จๅพŒ้บ็—‡ใจใ—ใฆใฎ่…Žไธๅ…จใฎๅญ˜ๅœจใฏใ€ๅ˜ใชใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจใ—ใฆใฎใฟใงๆ‰ใˆใ‚‹ในใใงใฏใชใ„ใ“ใจใ‚’ๆ„ๅ‘ณใ—ใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ไธปไฝ“ใจใ—ใŸๅ…จ่บซๆ€ง็–พๆ‚ฃใจใ—ใฆใฎ็ฎก็†ใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚ - 2200424 - - granulomatosis with polyangiitis + + 5 + Wegener่‚‰่Šฝ่…ซ็—‡ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซๅ…จ่บซใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€งๅค‰ๅŒ–ใ‚’่ชใ‚ใ€็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCAใŒ้–ขไธŽใ™ใ‚‹ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚International Chapel Hill Consensus Conferenceใฎ2012ๅนดๆ”น่จ‚ใงใ€ๅพ“ๆฅใฎWegener่‚‰่Šฝ่…ซ็—‡ใจใ„ใ†ๅ‘ผใณๅใ‹ใ‚‰granulomatosis with polyangitis GPAใซๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚ANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใฎไธ€็–พๆ‚ฃใซๅŒบๅˆ†ใ•ใ‚Œใ€ไธŠไธ‹ๆฐ—้“ใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ใŠใ‚ˆใณๅฐใ‹ใ‚‰ไธญ่ก€็ฎกใ‚’ไธปใซไพตใ™ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’ๆฅใŸใ—ใ€้ซ˜้ ปๅบฆใซๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ‚‚ใฎใจๅ†ๅฎš็พฉใ•ใ‚ŒใŸใ€‚GPAใฏๅ…ƒๆฅใ€็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ใ—ใ‹ใ—ๅฃฐ้–€ไธ‹็‹ญ็ช„ใซไผดใ†ๅ‘ผๅธไธๅ…จใชใฉๆ•‘ๆ€ฅ็–พๆ‚ฃใจใ—ใฆใฎๆ€งๆ ผใ‚„ใ€่‡“ๅ™จๅพŒ้บ็—‡ใจใ—ใฆใฎ่…Žไธๅ…จใฎๅญ˜ๅœจใฏใ€ๅ˜ใชใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจใ—ใฆใฎใฟใงๆ‰ใˆใ‚‹ในใใงใฏใชใ„ใ“ใจใ‚’ๆ„ๅ‘ณใ—ใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ไธปไฝ“ใจใ—ใŸๅ…จ่บซๆ€ง็–พๆ‚ฃใจใ—ใฆใฎ็ฎก็†ใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚ + NANDO:2200424 + + Granulomatosis with polyangiitis + ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ + - - + GPA ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ - - 1 - ็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Žใฏไธญๅž‹่ก€็ฎก็‚Žใซๅˆ†้กžใ•ใ‚Œใ€ไธญใƒปๅฐๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹ใŒใ€็ดฐๅ‹•่„ˆใ‚„ๆฏ›็ดฐ่ก€็ฎกใซใฏ่ก€็ฎก็‚Žใ‚’่ชใ‚ใชใ„ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็ดฐๅ‹•่„ˆไปฅไธ‹ใฎๅฐๅž‹่ก€็ฎกใŒไธปใช็ฝนๆ‚ฃ่ก€็ฎกใงใ‚ใ‚‹้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใจใฏใ€็—…ๆ…‹ใƒป็—‡็Šถใƒป็—…็†็ต„็น”ๆ‰€่ฆ‹ใƒปๆคœๆŸปๆ‰€่ฆ‹ใƒปไบˆๅพŒใชใฉใŒๆ˜Ž็ขบใซ็•ฐใชใ‚‹ใ€‚ANCAใŒ้™ฝๆ€งใซใชใ‚‹ใ“ใจใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ - 2200425 - - polyangiitis nodosa + + 1 + ็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Žใฏไธญๅž‹่ก€็ฎก็‚Žใซๅˆ†้กžใ•ใ‚Œใ€ไธญใƒปๅฐๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹ใŒใ€็ดฐๅ‹•่„ˆใ‚„ๆฏ›็ดฐ่ก€็ฎกใซใฏ่ก€็ฎก็‚Žใ‚’่ชใ‚ใชใ„ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็ดฐๅ‹•่„ˆไปฅไธ‹ใฎๅฐๅž‹่ก€็ฎกใŒไธปใช็ฝนๆ‚ฃ่ก€็ฎกใงใ‚ใ‚‹้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใจใฏใ€็—…ๆ…‹ใƒป็—‡็Šถใƒป็—…็†็ต„็น”ๆ‰€่ฆ‹ใƒปๆคœๆŸปๆ‰€่ฆ‹ใƒปไบˆๅพŒใชใฉใŒๆ˜Ž็ขบใซ็•ฐใชใ‚‹ใ€‚ANCAใŒ้™ฝๆ€งใซใชใ‚‹ใ“ใจใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ + NANDO:2200425 + + Polyangiitis nodosa + ใ‘ใฃใ›ใคใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ ็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž - - + PN ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž - ็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž - - 2 - ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚ŽMPAใฏใ€1994ๅนดใฎInternational Chapel Hill Consensus Conferenceใงใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽPANใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅ‹•้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใจใ—ใฆๆ–ฐใŸใซๅˆ†้กžใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใ‚’ใปใจใ‚“ใฉ่ชใ‚ใšใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCA้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ€ๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็—…ๆ…‹ใ‚„่‡จๅบŠ็—…ๅž‹ใซ็€็›ฎใ—ใŸ2012ๅนดๆ”น่จ‚ๅˆ†้กžใงใฏใ€Wegener่‚‰่Šฝ่…ซ็—‡๏ผๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡GPAใŠใ‚ˆใณChurg-Strauss็—‡ๅ€™็พค๏ผๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡EGPAใจใจใ‚‚ใซANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใซๅŒบๅˆ†ใ•ใ‚ŒใŸANCA้–ข้€ฃ่ก€็ฎก็‚Žใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ANCAใฎๅฏพๅฟœๆŠ—ๅŽŸใฏGPAใจ็•ฐใชใ‚ŠใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผMPOใŒๅคšใใ€็‰นใซๆœฌ้‚ฆใฎMPAไพ‹ใฎMPO-ANCAใฎ้™ฝๆ€ง็Ž‡ใฏ9ๅ‰ฒใ‚’่ถ…ใˆใ‚‹ใ€‚MPA ใฏ่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„็‚นใงGPAใ€EGPAใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚ - 2200426 - - microscopic polyangiitis + + 2 + ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚ŽMPAใฏใ€1994ๅนดใฎInternational Chapel Hill Consensus Conferenceใงใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽPANใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅ‹•้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใจใ—ใฆๆ–ฐใŸใซๅˆ†้กžใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใ‚’ใปใจใ‚“ใฉ่ชใ‚ใšใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCA้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ€ๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็—…ๆ…‹ใ‚„่‡จๅบŠ็—…ๅž‹ใซ็€็›ฎใ—ใŸ2012ๅนดๆ”น่จ‚ๅˆ†้กžใงใฏใ€Wegener่‚‰่Šฝ่…ซ็—‡๏ผๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡GPAใŠใ‚ˆใณChurg-Strauss็—‡ๅ€™็พค๏ผๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡EGPAใจใจใ‚‚ใซANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใซๅŒบๅˆ†ใ•ใ‚ŒใŸANCA้–ข้€ฃ่ก€็ฎก็‚Žใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ANCAใฎๅฏพๅฟœๆŠ—ๅŽŸใฏGPAใจ็•ฐใชใ‚ŠใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผMPOใŒๅคšใใ€็‰นใซๆœฌ้‚ฆใฎMPAไพ‹ใฎMPO-ANCAใฎ้™ฝๆ€ง็Ž‡ใฏ9ๅ‰ฒใ‚’่ถ…ใˆใ‚‹ใ€‚MPA ใฏ่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„็‚นใงGPAใ€EGPAใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200426 + + Microscopic polyangiitis + ใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž - + - + MPA ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž - - 3 - ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒๅ…ˆ่กŒใ—ใ€ใใฎๅพŒๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ็™บ็—‡ใ™ใ‚‹ไธญๅฐๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅ‘จๅ›ฒใธใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚„ใ€ๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’ไผดใ†่ก€็ฎกๅค–่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใŒๅ…จ่บซใฎ็ตๅˆ็ต„็น”้–“่ณชใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไปฅๅ‰ใฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žallergic granulomatous angiitis (AGA)ใ€ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พคChurg-Strauss syndrome (CSS)ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ - 2200427 - - eosinophilic granulomatosis with polyangiitis + + 3 + ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒๅ…ˆ่กŒใ—ใ€ใใฎๅพŒๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ็™บ็—‡ใ™ใ‚‹ไธญๅฐๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅ‘จๅ›ฒใธใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚„ใ€ๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’ไผดใ†่ก€็ฎกๅค–่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใŒๅ…จ่บซใฎ็ตๅˆ็ต„็น”้–“่ณชใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไปฅๅ‰ใฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žallergic granulomatous angiitis (AGA)ใ€ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พคChurg-Strauss syndrome (CSS)ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ + NANDO:2200427 + + Eosinophilic granulomatosis with polyangiitis + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ - + - + EGPA ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ - - 12 - ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆRelapsing Polychondritis: RP๏ผ‰ใฏใ€่€ณไป‹ใ€้ผปใ€ๅ–‰้ ญๆฐ—็ฎก่ปŸ้ชจใชใฉใซ็”Ÿใ˜ใ‚‹ๅ†็™บๆ€งใ‹ใค้€ฒ่กŒๆ€งใฎ่ปŸ้ชจ็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถไปฅๅค–ใซใ€้–ข็ฏ€็‚Žใ€็œผ็—…ๅค‰ใ€ๅฟƒ่ก€็ฎก็—…ๅค‰ใชใฉใ‚’ๅ‘ˆใ—ใ€ไป–ใฎใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใชใ‹ใงใ‚‚ใ€ๅ–‰้ ญๆฐ—็ฎก็—…ๅค‰ใฏไธปใชๆญปๅ› ใจใชใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใจๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฎ†ใฉใฎๆ‚ฃ่€…ใฏไธญๅนดๆœŸไปฅ้™ใฎๆˆไบบใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ใฎๅ ฑๅ‘Šใ‚‚็จ€ใซใ‚ใ‚‹ใ€‚ - 2200428 - + + 12 + ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆRelapsing Polychondritis: RP๏ผ‰ใฏใ€่€ณไป‹ใ€้ผปใ€ๅ–‰้ ญๆฐ—็ฎก่ปŸ้ชจใชใฉใซ็”Ÿใ˜ใ‚‹ๅ†็™บๆ€งใ‹ใค้€ฒ่กŒๆ€งใฎ่ปŸ้ชจ็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถไปฅๅค–ใซใ€้–ข็ฏ€็‚Žใ€็œผ็—…ๅค‰ใ€ๅฟƒ่ก€็ฎก็—…ๅค‰ใชใฉใ‚’ๅ‘ˆใ—ใ€ไป–ใฎใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใชใ‹ใงใ‚‚ใ€ๅ–‰้ ญๆฐ—็ฎก็—…ๅค‰ใฏไธปใชๆญปๅ› ใจใชใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใจๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฎ†ใฉใฎๆ‚ฃ่€…ใฏไธญๅนดๆœŸไปฅ้™ใฎๆˆไบบใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ใฎๅ ฑๅ‘Šใ‚‚็จ€ใซใ‚ใ‚‹ใ€‚ + NANDO:2200428 + Relapsing Polychondritis + ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“ ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž - + - + ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž - - 23 - ๅผท็šฎ็—‡ใฏ็šฎ่†š็กฌๅŒ–ใ‚’ใฏใ˜ใ‚ใจใ—ใŸๅ…จ่บซ่‡“ๅ™จใฎ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ (SSc)ใฏใ€็šฎ่†š็—‡็Šถใฎไป–ใซ่‚บ็ทš็ถญ็—‡ใƒป่‚บ้ซ˜่ก€ๅœง็—‡ใ‚„่…Ž้šœๅฎณใ€ๆถˆๅŒ–ๅ™จ้šœๅฎณใชใฉๅ…จ่บซ่‡“ๅ™จใฎๅˆไฝต็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆ็•ฐใชใ‚Šๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ2ใคใซๅˆ†ใ‘ใ‚‹LeRoyใ‚‰ใฎๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใฏ่‡จๅบŠ็—‡็Šถใ‹ใ‚‰็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใ‚ˆใ‚Šไฝ“ๅนนๅดใซ้€ฒๅฑ•ใ™ใ‚‹โ€œdiffuse cutaneous SSc (d-SSc)โ€ใ€็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใพใงใฎๆœซๆขขๅดใซ้™ๅฑ€ใ™ใ‚‹โ€limited cutaneous SSc (l-SSc)โ€œใฎ๏ผ’็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200429 - - systemic sclerosis - ๅผท็šฎ็—‡ + + 23 + ๅผท็šฎ็—‡ใฏ็šฎ่†š็กฌๅŒ–ใ‚’ใฏใ˜ใ‚ใจใ—ใŸๅ…จ่บซ่‡“ๅ™จใฎ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ (SSc)ใฏใ€็šฎ่†š็—‡็Šถใฎไป–ใซ่‚บ็ทš็ถญ็—‡ใƒป่‚บ้ซ˜่ก€ๅœง็—‡ใ‚„่…Ž้šœๅฎณใ€ๆถˆๅŒ–ๅ™จ้šœๅฎณใชใฉๅ…จ่บซ่‡“ๅ™จใฎๅˆไฝต็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆ็•ฐใชใ‚Šๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ2ใคใซๅˆ†ใ‘ใ‚‹LeRoyใ‚‰ใฎๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใฏ่‡จๅบŠ็—‡็Šถใ‹ใ‚‰็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใ‚ˆใ‚Šไฝ“ๅนนๅดใซ้€ฒๅฑ•ใ™ใ‚‹โ€œdiffuse cutaneous SSc (d-SSc)โ€ใ€็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใพใงใฎๆœซๆขขๅดใซ้™ๅฑ€ใ™ใ‚‹โ€limited cutaneous SSc (l-SSc)โ€œใฎ๏ผ’็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200429 + + Systemic sclerosis + ใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ† + ๅ…จ่บซๆ€งๅผท็šฎ็—‡ + - + + SSc - ๅผท็šฎ็—‡ + ๅ…จ่บซๆ€งๅผท็šฎ็—‡ - - 24 - ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…(mixed connective tissue disease๏ผšMCTD)ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰๏ผŒๅคš็™บ็ญ‹็‚Ž๏ผˆPM๏ผ‰๏ผŒๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSSc๏ผ‰ๆง˜ๆ‰€่ฆ‹ใฎๆททๅœจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใงใฏใ€SLEใƒปPMใƒปSScใใ‚Œใžใ‚Œใฎ่‡จๅบŠๆ‰€่ฆ‹ใŒๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใซๆŠ—U1-RNP (ribonucleoprotein)ๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใฎๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…ใงใฏSLEใƒปPMใƒปSScใฎ๏ผ“ใคๆ‰€่ฆ‹ใ‚’ๅ…จใฆ่ชใ‚ใ‚‹ใ“ใจใฏๅฐ‘ใชใใ€SLEๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒ้ซ˜ใใ€PMใƒปSScๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒๅฐ‘ใชใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 2200430 - + + 24 + ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…(mixed connective tissue disease๏ผšMCTD)ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰๏ผŒๅคš็™บ็ญ‹็‚Ž๏ผˆPM๏ผ‰๏ผŒๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSSc๏ผ‰ๆง˜ๆ‰€่ฆ‹ใฎๆททๅœจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใงใฏใ€SLEใƒปPMใƒปSScใใ‚Œใžใ‚Œใฎ่‡จๅบŠๆ‰€่ฆ‹ใŒๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใซๆŠ—U1-RNP (ribonucleoprotein)ๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใฎๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…ใงใฏSLEใƒปPMใƒปSScใฎ๏ผ“ใคๆ‰€่ฆ‹ใ‚’ๅ…จใฆ่ชใ‚ใ‚‹ใ“ใจใฏๅฐ‘ใชใใ€SLEๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒ้ซ˜ใใ€PMใƒปSScๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒๅฐ‘ใชใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:2200430 + mixed connective tissue disease + ใ“ใ‚“ใ”ใ†ใ›ใ„ใ‘ใคใ”ใ†ใใ—ใใณใ‚‡ใ† ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—… - + - + MCTD ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—… - - 14 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever: FMF๏ผ‰ใฏใ€ๆผฟ่†œ็‚Žใชใฉใ‚’ๅๅพฉใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ๏ผˆautoinflammatory diseases๏ผ‰ใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใจ้žๅ…ธๅž‹ไพ‹๏ผˆไธๅฎŒๅ…จๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏใ€ๆœˆใซ๏ผ‘ๅ›žใปใฉใฎ็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚็™บ็†ฑๆœŸ้–“ใฏ72ๆ™‚้–“ไปฅๅ†…ใงใ€็™บ็†ฑใซไผดใฃใฆๆฟ€ใ—ใ„่…น็—›ใ‹่ƒธ่ƒŒ้ƒจ็—›ใ‚’่จดใˆใ€้–ข็ฏ€็‚Žใฎไฝต็™บใฏไธ‹่‚ขใฎๅคง้–ข็ฏ€ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚้žๅ…ธๅž‹ไพ‹ใฏ็™บ็†ฑๆœŸ้–“ใŒๆ•ฐ้€ฑ้–“ใจ้•ทใใ€ใ•ใพใ–ใพใช้šไผด็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้–ข็ฏ€็‚Žใฎๅˆไฝตใฏ่‚˜้–ข็ฏ€ใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็†ฑๆ™‚ใซใฏใ€CRPใฏ10 mg/mlไปฅไธŠใจ้ซ˜ๅ€คใซใชใ‚‹ใ“ใจใŒๅคšใใ€็™บไฝœ้–“ๆฌ ๆœŸใซใฏๆญฃๅธธๅŒ–ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€็‚Ž็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹ๅˆ†ๅญ็พคใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฎไธญใงไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€่ฒฌไปป้บไผๅญMEFV (่›‹็™ฝใฏpyrin) ใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MEFV exon 10ๅค‰็•ฐ(M694Iใชใฉ)ใฏๅ…ธๅž‹ไพ‹ใซๅคšใใ€้žๅ…ธๅž‹ไพ‹ใงใฏexon 3ใฎP369S-R408Qๅค‰็•ฐใŒๆคœๅ‡บใ•ใ‚Œใ‚„ใ™ใ„ใ€‚ๆฒป็™‚ใฏใ„ใšใ‚Œใฎๅž‹ใ‚‚ๅฅฝไธญ็ƒๆฉŸ่ƒฝใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ‚ณใƒซใƒ’ใƒใƒณใŒๅคงๅคšๆ•ฐไพ‹ใงๅฅๅŠนใ™ใ‚‹ใ€‚ - 2200431 - - familiar Mediterranean fever + + 14 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever: FMF๏ผ‰ใฏใ€ๆผฟ่†œ็‚Žใชใฉใ‚’ๅๅพฉใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ๏ผˆautoinflammatory diseases๏ผ‰ใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใจ้žๅ…ธๅž‹ไพ‹๏ผˆไธๅฎŒๅ…จๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏใ€ๆœˆใซ๏ผ‘ๅ›žใปใฉใฎ็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚็™บ็†ฑๆœŸ้–“ใฏ72ๆ™‚้–“ไปฅๅ†…ใงใ€็™บ็†ฑใซไผดใฃใฆๆฟ€ใ—ใ„่…น็—›ใ‹่ƒธ่ƒŒ้ƒจ็—›ใ‚’่จดใˆใ€้–ข็ฏ€็‚Žใฎไฝต็™บใฏไธ‹่‚ขใฎๅคง้–ข็ฏ€ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚้žๅ…ธๅž‹ไพ‹ใฏ็™บ็†ฑๆœŸ้–“ใŒๆ•ฐ้€ฑ้–“ใจ้•ทใใ€ใ•ใพใ–ใพใช้šไผด็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้–ข็ฏ€็‚Žใฎๅˆไฝตใฏ่‚˜้–ข็ฏ€ใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็†ฑๆ™‚ใซใฏใ€CRPใฏ10 mg/mlไปฅไธŠใจ้ซ˜ๅ€คใซใชใ‚‹ใ“ใจใŒๅคšใใ€็™บไฝœ้–“ๆฌ ๆœŸใซใฏๆญฃๅธธๅŒ–ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€็‚Ž็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹ๅˆ†ๅญ็พคใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฎไธญใงไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€่ฒฌไปป้บไผๅญMEFV (่›‹็™ฝใฏpyrin) ใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MEFV exon 10ๅค‰็•ฐ(M694Iใชใฉ)ใฏๅ…ธๅž‹ไพ‹ใซๅคšใใ€้žๅ…ธๅž‹ไพ‹ใงใฏexon 3ใฎP369S-R408Qๅค‰็•ฐใŒๆคœๅ‡บใ•ใ‚Œใ‚„ใ™ใ„ใ€‚ๆฒป็™‚ใฏใ„ใšใ‚Œใฎๅž‹ใ‚‚ๅฅฝไธญ็ƒๆฉŸ่ƒฝใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ‚ณใƒซใƒ’ใƒใƒณใŒๅคงๅคšๆ•ฐไพ‹ใงๅฅๅŠนใ™ใ‚‹ใ€‚ + NANDO:2200431 + + Familial Mediterranean fever + ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใค ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ - + - + + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ - - 16 - NLRP3้บไผๅญ(่›‹็™ฝๅ๏ผšcryopyrin๏ผŒใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณIL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚Šใ€ๅ‘จๆœŸๆ€งๆˆ–ใ„ใฏๆŒ็ถšๆ€งใซๅ…จ่บซใฎ็‚Ž็—‡ใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ - 2200432 - - cryopyrin-associated periodic syndrome + + 16 + NLRP3้บไผๅญ(่›‹็™ฝๅ๏ผšcryopyrin๏ผŒใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณIL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚Šใ€ๅ‘จๆœŸๆ€งๆˆ–ใ„ใฏๆŒ็ถšๆ€งใซๅ…จ่บซใฎ็‚Ž็—‡ใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ + NANDO:2200432 + + Cryopyrin-associated periodic syndrome + ใใ‚ŠใŠใดใ‚Šใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใญใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค - + - + + Cryopyrin associated periodic fever syndrome + ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค - - 18 - ้บไผๆ€งใฎๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็ญ‹่‚‰็—›ใ‚„็šฎ็–นใ‚’ไผดใ†ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰/ใ‚นใ‚ณใƒƒใƒˆใƒฉใƒณใƒ‰ใฎไธ€ๅฎถ็ณปใฎๅ ฑๅ‘Š(1982ๅนด)ใซๅง‹ใพใ‚Šใ€1999ๅนดใซโ… ๅž‹TNFๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€TRAPS(TNF receptor-associated periodic fever syndrome)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ - 2200433 - + + 18 + ้บไผๆ€งใฎๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็ญ‹่‚‰็—›ใ‚„็šฎ็–นใ‚’ไผดใ†ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰/ใ‚นใ‚ณใƒƒใƒˆใƒฉใƒณใƒ‰ใฎไธ€ๅฎถ็ณปใฎๅ ฑๅ‘Š(1982ๅนด)ใซๅง‹ใพใ‚Šใ€1999ๅนดใซโ… ๅž‹TNFๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€TRAPS(TNF receptor-associated periodic fever syndrome)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ + NANDO:2200433 + TNF receptor-associated periodic fever syndrome TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค + ใฆใƒใƒผใˆใฌใˆใตใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - - + + TRAPS TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค - - 20 - ไธปใจใ—ใฆ4ๆญณไปฅไธ‹ใฎๅฐๅ…ใซ็™บ็—‡ใ—ใ€้–ข็ฏ€็‚Žใƒปใถใฉใ†่†œ็‚Žใƒป็šฎ่†š็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏใ€ๆญดๅฒ็š„ใซ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น(Early-onset sarcoidosis; EOS, MIM#609464)ใจๅ‘ผใฐใ‚ŒใฆใใŸใ€‚ไธ€ๆ–นใ€1985ๅนดใ€EOSใจ้…ทไผผใ™ใ‚‹่‡จๅบŠๅƒใ‚’4ไธ–ไปฃใซๆธกใฃใฆๅ‘ˆใ™ใ‚‹ๅฎถ็ณปไพ‹ใŒBlauใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใฎ็–พๆ‚ฃใฏBlau็—‡ๅ€™็พค(MIM#186580)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚2001ๅนดใ€Blau็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆNOD2ใŒๅŒๅฎšใ•ใ‚Œใ€2005ๅนดใ€ๆœฌ้‚ฆEOS10ไพ‹ใฎ้บไผๅญ่งฃๆžใ‚ˆใ‚ŠEOSใซใŠใ„ใฆใ‚‚NOD2ใŒใใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒ้‡‘ๆพคใ‚‰ใซใ‚ˆใ‚Š่จผๆ˜Žใ•ใ‚ŒใŸใ€‚ไปŠๆ—ฅใงใฏใ€ไธก่€…ใฏๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€EOSใฏBlau็—‡ๅ€™็พคใฎๅญค็™บไพ‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ - 2200434 - + + 20 + ไธปใจใ—ใฆ4ๆญณไปฅไธ‹ใฎๅฐๅ…ใซ็™บ็—‡ใ—ใ€้–ข็ฏ€็‚Žใƒปใถใฉใ†่†œ็‚Žใƒป็šฎ่†š็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏใ€ๆญดๅฒ็š„ใซ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น(Early-onset sarcoidosis; EOS, MIM#609464)ใจๅ‘ผใฐใ‚ŒใฆใใŸใ€‚ไธ€ๆ–นใ€1985ๅนดใ€EOSใจ้…ทไผผใ™ใ‚‹่‡จๅบŠๅƒใ‚’4ไธ–ไปฃใซๆธกใฃใฆๅ‘ˆใ™ใ‚‹ๅฎถ็ณปไพ‹ใŒBlauใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใฎ็–พๆ‚ฃใฏBlau็—‡ๅ€™็พค(MIM#186580)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚2001ๅนดใ€Blau็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆNOD2ใŒๅŒๅฎšใ•ใ‚Œใ€2005ๅนดใ€ๆœฌ้‚ฆEOS10ไพ‹ใฎ้บไผๅญ่งฃๆžใ‚ˆใ‚ŠEOSใซใŠใ„ใฆใ‚‚NOD2ใŒใใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒ้‡‘ๆพคใ‚‰ใซใ‚ˆใ‚Š่จผๆ˜Žใ•ใ‚ŒใŸใ€‚ไปŠๆ—ฅใงใฏใ€ไธก่€…ใฏๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€EOSใฏBlau็—‡ๅ€™็พคใฎๅญค็™บไพ‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ + NANDO:2200434 + Blau syndrome, early onset sarcoidosis + ใถใ‚‰ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค - + + - - Blau syndrome + Blau็—‡ๅ€™็พค - early onset sarcoidosis + Early onset sarcoidosis ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น - ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค - - 19 - ๅนผๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใ€็™บ็†ฑใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‡็˜กๆง˜็šฎ็–น็™บ็—‡ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ€่„‚่‚ช็ต„็น”็‚Žใ‚’่ชใ‚ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค(Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome :CANDLE Syndrome), ใ‚ใ‚‹ใ„ใฏ้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž๏ผˆJoint contractures, Muscle atrophy, Microcytic Anemia, and Panniculitis Induced Lipodystrophy:JMP)ใจๅŒไธ€็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ใ‚’ๆง‹ๆˆใ™ใ‚‹20Sๆง‹ๆˆๅ› ๅญใฎไธญใฎPSMB8ใŒๅŒๅฎšใ•ใ‚Œใ€ใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–่›‹็™ฝ่ณชใŒ่“„็ฉใŒๆœฌ็—‡ใฎ็™บ็—‡ใซ้–ขใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณ่–ฌใŒๅฅๅŠŸใ›ใšใ€ไป–ใซๆœ‰ๅŠนใช่–ฌๅ‰คใŒใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200435 - - Nakajyo-Nishimura syndrome + + 19 + ๅนผๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใ€็™บ็†ฑใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‡็˜กๆง˜็šฎ็–น็™บ็—‡ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ€่„‚่‚ช็ต„็น”็‚Žใ‚’่ชใ‚ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค(Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome :CANDLE Syndrome), ใ‚ใ‚‹ใ„ใฏ้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž๏ผˆJoint contractures, Muscle atrophy, Microcytic Anemia, and Panniculitis Induced Lipodystrophy:JMP)ใจๅŒไธ€็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ใ‚’ๆง‹ๆˆใ™ใ‚‹20Sๆง‹ๆˆๅ› ๅญใฎไธญใฎPSMB8ใŒๅŒๅฎšใ•ใ‚Œใ€ใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–่›‹็™ฝ่ณชใŒ่“„็ฉใŒๆœฌ็—‡ใฎ็™บ็—‡ใซ้–ขใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณ่–ฌใŒๅฅๅŠŸใ›ใšใ€ไป–ใซๆœ‰ๅŠนใช่–ฌๅ‰คใŒใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200435 + + Nakajo-Nishimura syndrome + ใชใ‹ใ˜ใ‚‡ใ†ใƒปใซใ—ใ‚€ใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค + - + + ่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค + ้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž + ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค - - 17 - ๆœฌ็–พๆ‚ฃใฏใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎไปฃ่ฌ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€่‡จๅบŠ็š„็‰นๅพดใจใ—ใฆไนณๅ…ๆœŸใ‚ˆใ‚Š็™บ็—‡ใ—่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฎ‹ๅญ˜MKๆดปๆ€งใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๅฅ‡ๅฝขใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใฎ้‡ใ„็—‡็Šถใ‚’ไผดใ†ใƒกใƒใƒญใƒณ้…ธๅฐฟ็—‡ ((้…ต็ด ๆดปๆ€ง 1 %ๆœชๆบ€) ใจใ€ใ‚ใšใ‹ใซ้…ต็ด ๆดปๆ€งใŒๆฎ‹ๅญ˜ใ™ใ‚‹้ซ˜IgD็—‡ๅ€™็พค๏ผˆๅŒ1-10 %๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚1984ๅนดใซใ‚ชใƒฉใƒณใƒ€ไบบใฎๅฎถ็ณปใงๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFMF๏ผ‰ใจใ‚ˆใไผผใŸ่‡จๅบŠๅƒใ‚’็คบใ—ใชใŒใ‚‰ใ‚‚ใ€่ก€ๆธ…IgD้ซ˜ๅ€คใ‚„ใ€็™บไฝœๆ™‚ใฎใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€ไธ‹็—ขใชใฉใ„ใใคใ‹ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฎ้•ใ„ใ‹ใ‚‰ใ€FMFใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚ŒใŸใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนด่จบๆ–ญใ•ใ‚ŒใŸๆœฌ้‚ฆใงใฎ็—‡ไพ‹ใฏใ€ๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚ - 2200436 - + + 17 + ๆœฌ็–พๆ‚ฃใฏใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎไปฃ่ฌ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€่‡จๅบŠ็š„็‰นๅพดใจใ—ใฆไนณๅ…ๆœŸใ‚ˆใ‚Š็™บ็—‡ใ—่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฎ‹ๅญ˜MKๆดปๆ€งใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๅฅ‡ๅฝขใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใฎ้‡ใ„็—‡็Šถใ‚’ไผดใ†ใƒกใƒใƒญใƒณ้…ธๅฐฟ็—‡ ((้…ต็ด ๆดปๆ€ง 1 %ๆœชๆบ€) ใจใ€ใ‚ใšใ‹ใซ้…ต็ด ๆดปๆ€งใŒๆฎ‹ๅญ˜ใ™ใ‚‹้ซ˜IgD็—‡ๅ€™็พค๏ผˆๅŒ1-10 %๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚1984ๅนดใซใ‚ชใƒฉใƒณใƒ€ไบบใฎๅฎถ็ณปใงๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFMF๏ผ‰ใจใ‚ˆใไผผใŸ่‡จๅบŠๅƒใ‚’็คบใ—ใชใŒใ‚‰ใ‚‚ใ€่ก€ๆธ…IgD้ซ˜ๅ€คใ‚„ใ€็™บไฝœๆ™‚ใฎใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€ไธ‹็—ขใชใฉใ„ใใคใ‹ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฎ้•ใ„ใ‹ใ‚‰ใ€FMFใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚ŒใŸใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนด่จบๆ–ญใ•ใ‚ŒใŸๆœฌ้‚ฆใงใฎ็—‡ไพ‹ใฏใ€ๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚ + NANDO:2200436 + hyper IgD syndrome + ใ“ใ†ใ‚ใ„ใ˜ใƒผใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ซ˜IgD็—‡ๅ€™็พค - + + - + mevalonate kinase deficiency ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - ้ซ˜IgD็—‡ๅ€™็พค - - 15 - 1997ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹็จ€ใช่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็„ก่Œๆ€งๅŒ–่†ฟๆ€ง้–ข็ฏ€็‚Žใ‚’่‡จๅบŠๅƒใฎไธปไฝ“ใจใ—ใ€ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใจๅ›Š่…ซๆ€งๅบง็˜กใ‚’ไผดใ†ไบ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 2200437 - + + 15 + 1997ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹็จ€ใช่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็„ก่Œๆ€งๅŒ–่†ฟๆ€ง้–ข็ฏ€็‚Žใ‚’่‡จๅบŠๅƒใฎไธปไฝ“ใจใ—ใ€ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใจๅ›Š่…ซๆ€งๅบง็˜กใ‚’ไผดใ†ไบ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:2200437 + pyogenic arthritis, pyoderma gangrenosum, acne syndrome - ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚Ž + ใ‹ใฎใ†ใ›ใ„ใ‚€ใใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ใƒปใˆใใ›ใ„ใฎใ†ใฒใ—ใ‚‡ใ†ใƒปใ‚ใใญใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค + - - acne syndrome - pyoderma gangrenosum - pyogenic arthritis - ใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค - ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ + + PAPA syndrome + PAPA็—‡ๅ€™็พค - - ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚Ž + ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค - - 21 - ๆœฌ็–พๆ‚ฃใฏ10ๆญณๅ‰ๅพŒใฎๅฐๅ…ใซๅฅฝ็™บใ™ใ‚‹้ชจใƒป้ชจ้ซ„ใฎ็„ก่Œๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€็–ผ็—›ใ‚’ไผดใ†้ชจ้ซ„็‚ŽใŒๅคš็™บใ—ใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŽŒ่น ่†ฟ็–ฑ็—‡ใ‚„ๅฐ‹ๅธธๆ€งไนพ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€SAPHO็—‡ๅ€™็พคใ‚‚้กžไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆ—ฉๆœŸ(2ๆญณๆœชๆบ€)ใซๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ‚’็™บ็—‡ใ—ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(ไฝŽ่‰ฒ็ด ๆ€งใ€ๅฐ็ƒๆ€ง่ฒง่ก€)ๅŠใณSweet็—‡ๅ€™็พคใชใฉใฎ็šฎ่†š็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใ‚’Majeed็—‡ๅ€™็พคใจๅ‘ผใถใ€‚Majeed็—‡ๅ€™็พคใฏLPIN2้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ - 2200438 - + + 21 + ๆœฌ็–พๆ‚ฃใฏ10ๆญณๅ‰ๅพŒใฎๅฐๅ…ใซๅฅฝ็™บใ™ใ‚‹้ชจใƒป้ชจ้ซ„ใฎ็„ก่Œๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€็–ผ็—›ใ‚’ไผดใ†้ชจ้ซ„็‚ŽใŒๅคš็™บใ—ใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŽŒ่น ่†ฟ็–ฑ็—‡ใ‚„ๅฐ‹ๅธธๆ€งไนพ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€SAPHO็—‡ๅ€™็พคใ‚‚้กžไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆ—ฉๆœŸ(2ๆญณๆœชๆบ€)ใซๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ‚’็™บ็—‡ใ—ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(ไฝŽ่‰ฒ็ด ๆ€งใ€ๅฐ็ƒๆ€ง่ฒง่ก€)ๅŠใณSweet็—‡ๅ€™็พคใชใฉใฎ็šฎ่†š็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใ‚’Majeed็—‡ๅ€™็พคใจๅ‘ผใถใ€‚Majeed็—‡ๅ€™็พคใฏLPIN2้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2200438 + chronic recurrent multifocal osteomyelitis + ใพใ‚“ใ›ใ„ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใ›ใ„ใ“ใคใšใ„ใˆใ‚“ ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž + - - + ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž - - 13 - ๆœฌ็–พๆ‚ฃใฏใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹IL-1ใจโ… ๅž‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใซๅฏพใ—ใฆ็ซถๅˆ้˜ปๅฎณใ™ใ‚‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆใฎๆฌ ๆใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑ็—‡ใƒป้ชจ้ซ„็‚Žใƒป้ชจ่†œ็‚ŽใŒไธป็—‡็Šถใจใชใ‚‹ใ€‚ - 2200439 - + + 13 + ๆœฌ็–พๆ‚ฃใฏใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹IL-1ใจโ… ๅž‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใซๅฏพใ—ใฆ็ซถๅˆ้˜ปๅฎณใ™ใ‚‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆใฎๆฌ ๆใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑ็—‡ใƒป้ชจ้ซ„็‚Žใƒป้ชจ่†œ็‚ŽใŒไธป็—‡็Šถใจใชใ‚‹ใ€‚ + NANDO:2200439 + deficiency of the interleukin-1-receptor antagonist + ใ„ใ‚“ใŸใƒผใ‚ใ„ใใ‚“1ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใใฃใ“ใ†ใถใ‚“ใ—ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ - + ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200440 - + + 22 + NANDO:2200440 + + 15ใ‹ใ‚‰23ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฃใ‹ใ‚“ 15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ Other autoinflammatory diseases - + 15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CECR1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ADA2้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹/ๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™็™บ็†ฑใ€่”“็Šถ็šฎๆ–‘ใ‚„ใƒฌใ‚คใƒŽใƒผ็—‡็Šถ็ญ‰ใฎ็šฎ่†š็—‡็Šถใ€้บป็—บใ‚„็—บใ‚Œใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ€็œผ็—‡็Šถ๏ผˆไธญๅฟƒ้™่„ˆ้–‰ๅกžใ‚„่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็ฌฌ3่„ณ็ฅž็ตŒ้บป็—บใชใฉ๏ผ‰ใชใฉใ‚’ไธป็—‡็Šถใจใ—ใ€่ก€็ฎก็‚Žใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹้บไผๆ€งใฎ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žๆง˜็–พๆ‚ฃใจใ—ใฆ2014ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็™ฝ่ก€็ƒๆธ›ๅฐ‘ใ‚„่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃๆง˜็—‡็Šถใชใฉใ€ๅคšๅฝฉใช่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚ๅˆใ€ๅคšใใฎ็—‡ไพ‹ใฏๅญฆ็ซฅๆœŸใพใงใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅŒใ˜ๅค‰็•ฐใ‚’ๆŒใคๆ‚ฃ่€…ๅŒๅฃซใ€ใ•ใ‚‰ใซใฏๅŒใ˜ๅฎถ็ณปๅ†…ใฎๆ‚ฃ่€…ๅŒๅฃซใงใ‚‚็—‡็Šถใ‚„็™บ็—‡ๅนด้ฝขใซๅคงใใชๅทฎใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200441 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CECR1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ADA2้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹/ๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™็™บ็†ฑใ€่”“็Šถ็šฎๆ–‘ใ‚„ใƒฌใ‚คใƒŽใƒผ็—‡็Šถ็ญ‰ใฎ็šฎ่†š็—‡็Šถใ€้บป็—บใ‚„็—บใ‚Œใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ€็œผ็—‡็Šถ๏ผˆไธญๅฟƒ้™่„ˆ้–‰ๅกžใ‚„่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็ฌฌ3่„ณ็ฅž็ตŒ้บป็—บใชใฉ๏ผ‰ใชใฉใ‚’ไธป็—‡็Šถใจใ—ใ€่ก€็ฎก็‚Žใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹้บไผๆ€งใฎ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žๆง˜็–พๆ‚ฃใจใ—ใฆ2014ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็™ฝ่ก€็ƒๆธ›ๅฐ‘ใ‚„่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃๆง˜็—‡็Šถใชใฉใ€ๅคšๅฝฉใช่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚ๅˆใ€ๅคšใใฎ็—‡ไพ‹ใฏๅญฆ็ซฅๆœŸใพใงใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅŒใ˜ๅค‰็•ฐใ‚’ๆŒใคๆ‚ฃ่€…ๅŒๅฃซใ€ใ•ใ‚‰ใซใฏๅŒใ˜ๅฎถ็ณปๅ†…ใฎๆ‚ฃ่€…ๅŒๅฃซใงใ‚‚็—‡็Šถใ‚„็™บ็—‡ๅนด้ฝขใซๅคงใใชๅทฎใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200441 + + ADA2ๆฌ ๆ็—‡ Adenosine deaminase 2 deficiency - Adenosine deaminase 2ๆฌ ๆ็—‡ - + ใˆใƒผใงใƒใƒผใˆใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - ADA2ๆฌ ๆ็—‡ - - Adenosine deaminase 2ๆฌ ๆ็—‡ - - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅๅพฉๆ€งใฎๆฐด็–ฑ็—‡ใ€้–“่ณชๆ€ง่‚บ็‚Žใ€้–ข็ฏ€็‚Žใ€็‚Ž็—‡ๆ€ง็œผ็–พๆ‚ฃใ€่…ธ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€่‚บๅ‰ฏ้ผป่…”ๆ„ŸๆŸ“็—‡ใ‚’ไผดใ†่ปฝๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใ‚’็—‡็Šถใจใ™ใ‚‹PLGC2้บไผๅญ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚PLAIDใจ้•ใ„ใ€ๅฏ’ๅ†ท่•้บป็–นใฏไผดใ‚ใชใ„ใ€‚ใŸใ ใ—ใ€PLAIDใงๆฌ ๅคฑใ™ใ‚‹CๆœซSH2้ ˜ๅŸŸๅ†…ใซใ‚ใ‚‹p.Ser707Tyrๅค‰็•ฐใฎ๏ผ‘ๅฎถ็ณปใฎใฟใงใ‚ใ‚‹ใ€‚ - 2200442 - + + ADA2ๆฌ ๆ็—‡ + + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅๅพฉๆ€งใฎๆฐด็–ฑ็—‡ใ€้–“่ณชๆ€ง่‚บ็‚Žใ€้–ข็ฏ€็‚Žใ€็‚Ž็—‡ๆ€ง็œผ็–พๆ‚ฃใ€่…ธ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€่‚บๅ‰ฏ้ผป่…”ๆ„ŸๆŸ“็—‡ใ‚’ไผดใ†่ปฝๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใ‚’็—‡็Šถใจใ™ใ‚‹PLGC2้บไผๅญ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚PLAIDใจ้•ใ„ใ€ๅฏ’ๅ†ท่•้บป็–นใฏไผดใ‚ใชใ„ใ€‚ใŸใ ใ—ใ€PLAIDใงๆฌ ๅคฑใ™ใ‚‹CๆœซSH2้ ˜ๅŸŸๅ†…ใซใ‚ใ‚‹p.Ser707Tyrๅค‰็•ฐใฎ๏ผ‘ๅฎถ็ณปใฎใฟใงใ‚ใ‚‹ใ€‚ + NANDO:2200442 + Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation + ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใŒใฃใบใ„ใตใ‰ใ™ใตใ‰ใ‚Šใฑใƒผใœใ—ใƒผใŒใ‚“ใพ2ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใŸใ„ใ‘ใฃใใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ + - + APLAID ่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CARD14้บไผๅญใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹ๅฐ‹ๅธธๆ€งไนพ็™ฌใ‚„่†ฟ็–ฑๆ€งไนพ็™ฌใฎ่ฒฌไปป้บไผๅญใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ใพใŸใ€้กžไผผใฎ็–พๆ‚ฃใงใ‚ใ‚‹familial pityriasis rubra pilarisใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใ‚‚ๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ - 2200443 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CARD14้บไผๅญใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹ๅฐ‹ๅธธๆ€งไนพ็™ฌใ‚„่†ฟ็–ฑๆ€งไนพ็™ฌใฎ่ฒฌไปป้บไผๅญใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ใพใŸใ€้กžไผผใฎ็–พๆ‚ฃใงใ‚ใ‚‹familial pityriasis rubra pilarisใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใ‚‚ๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2200443 + CARD14 deficiency - Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡ + CARD14็•ฐๅธธ็—‡ + ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ14ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† - - CARD14็•ฐๅธธ็—‡ - Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡ - - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฑใƒซใƒ“ใ‚บใƒ ๏ผˆCherubism๏ผ‰ใฏใ€ไธŠ้กŽใพใŸใฏไธ‹้กŽใฎ้€ฒ่กŒๆ€ง็„ก็—›ๆ€งไธกๅดๆ€งๆ‹กๅคงใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใŠใ„ใฆ้ชจ่žๆ€ง็—…ๅค‰ใจ่ปŸ้ƒจ็ต„็น”ใฎ็ทš็ถญๆ€ง่ปŸ้ชจ็•ฐๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใฎ้Žๅ‰ฐๅๅฟœใซใ‚ˆใ‚Š็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณๅ‰้ง†ไฝ“ใ‚„็ ด้ชจ็ดฐ่ƒžๆ–ฐ็”Ÿใซ้–ขใ‚ใ‚‹ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็ ด้ชจ็ดฐ่ƒžใฎ็”ฃ็”ŸใŒไบข้€ฒใ—ใ€็‚Ž็—‡้ƒจไฝใซ็ ด้ชจ็ดฐ่ƒžใฏ้Žๅ‰ฐใซ้›†็ฉใ™ใ‚‹ใ“ใจใŒ่ƒŒๆ™ฏใซใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200444 - + + CARD14ๆฌ ๆ็—‡ + Caspase recruitment domain-containing protein 14 deficiency + Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡ + + CARD14็•ฐๅธธ็—‡ + + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฑใƒซใƒ“ใ‚บใƒ ๏ผˆCherubism๏ผ‰ใฏใ€ไธŠ้กŽใพใŸใฏไธ‹้กŽใฎ้€ฒ่กŒๆ€ง็„ก็—›ๆ€งไธกๅดๆ€งๆ‹กๅคงใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใŠใ„ใฆ้ชจ่žๆ€ง็—…ๅค‰ใจ่ปŸ้ƒจ็ต„็น”ใฎ็ทš็ถญๆ€ง่ปŸ้ชจ็•ฐๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใฎ้Žๅ‰ฐๅๅฟœใซใ‚ˆใ‚Š็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณๅ‰้ง†ไฝ“ใ‚„็ ด้ชจ็ดฐ่ƒžๆ–ฐ็”Ÿใซ้–ขใ‚ใ‚‹ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็ ด้ชจ็ดฐ่ƒžใฎ็”ฃ็”ŸใŒไบข้€ฒใ—ใ€็‚Ž็—‡้ƒจไฝใซ็ ด้ชจ็ดฐ่ƒžใฏ้Žๅ‰ฐใซ้›†็ฉใ™ใ‚‹ใ“ใจใŒ่ƒŒๆ™ฏใซใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200444 + Cherubism + ใ‘ใ‚‹ใณใšใ‚€ ใ‚ฑใƒซใƒ“ใ‚บใƒ  + - + ใ‚ฑใƒซใƒ“ใ‚บใƒ  - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚ - 2200445 - + + 22 + NANDO:2200445 IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ Interleukin-10/interleukin-10 receptor deficiency - - + ใ‚ใ„ใˆใ‚‹10/ใ‚ใ„ใˆใ‚‹10ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚ - 2200446 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚ + NANDO:2200446 + IL10 deficiency IL10ๆฌ ๆ็—‡ + ใ‚ใ„ใˆใ‚‹10ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + IL10ๆฌ ๆ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚ - 2200447 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚ + NANDO:2200447 + IL-10RA deficiency IL-10RAๆฌ ๆ็—‡ + ใ‚ใ„ใˆใ‚‹10ใ‚ใƒผใ‚‹ใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + IL-10RAๆฌ ๆ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚ - 2200448 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚ + NANDO:2200448 + IL-10RB deficiency IL-10RBๆฌ ๆ็—‡ + ใ‚ใ„ใˆใ‚‹10ใ‚ใƒผใ‚‹ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + IL-10RBๆฌ ๆ็—‡ - - 22 - 2200449 - - NAPS12 + + 22 + NANDO:2200449 + + NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค NLRP12-associated periodic syndrome + ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใดใƒผ12ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + - - NAPS12 + + FCAS2 + familial cold autoinflammatory syndrome + ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹ + + + NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค - - 22 - 2200450 - + + 22 + NANDO:2200450 + DADA2 deficiency of the enzyme ADA2 - + ใงใƒใƒผใˆใƒผใงใƒใƒผใˆใƒผ2 - - Adenosine deaminase 2 deficiency - + + Adenosine deaminase 2 deficiency DADA2 - - 22 - 2200451 - + + 22 + NANDO:2200451 + PLCG2็•ฐๅธธ็—‡ PLCg2 deficiency + ใดใƒผใˆใ‚‹ใ—ใƒผใ˜ใƒผ2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + PLCG2็•ฐๅธธ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL36RNๆฌ ๆ็—‡ใฏใ€่‡จๅบŠ็š„ใซใฏๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใจ่จบๆ–ญใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ€ใใฎใ†ใกใฎไธ€้ƒจใฎๆ‚ฃ่€…ใซIL-36ๅ—ๅฎนไฝ“ใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚ - 2200452 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL36RNๆฌ ๆ็—‡ใฏใ€่‡จๅบŠ็š„ใซใฏๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใจ่จบๆ–ญใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ€ใใฎใ†ใกใฎไธ€้ƒจใฎๆ‚ฃ่€…ใซIL-36ๅ—ๅฎนไฝ“ใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚ + NANDO:2200452 + IL36RN deficiency IL36RNๆฌ ๆ็—‡ + ใ‚ใ„ใˆใ‚‹36ใ‚ใƒผใ‚‹ใˆใฌใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + IL36RNๆฌ ๆ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚Majeed็—‡ๅ€™็พคใฏใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž๏ผˆCRMO๏ผšchronic recurrent multifocal osteomyelitis๏ผ‰ใซๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€๏ผˆCDA๏ผšcongenital dyserythropoietic anemia๏ผ‰ใŠใ‚ˆใณ็šฎ็–น๏ผˆSweet็—‡ๅ€™็พคใพใŸใฏ่†ฟ็–ฑ็—‡๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 2200453 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚Majeed็—‡ๅ€™็พคใฏใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž๏ผˆCRMO๏ผšchronic recurrent multifocal osteomyelitis๏ผ‰ใซๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€๏ผˆCDA๏ผšcongenital dyserythropoietic anemia๏ผ‰ใŠใ‚ˆใณ็šฎ็–น๏ผˆSweet็—‡ๅ€™็พคใพใŸใฏ่†ฟ็–ฑ็—‡๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:2200453 + Majeed syndrome Majeed็—‡ๅ€™็พค + ใพใ˜ใƒใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutropilic dermatosis MJDS Majeed็—‡ๅ€™็พค - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใฏใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค๏ผˆcryopyrin-associated periodic syndrome๏ผšCAPS๏ผ‰ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšNLRP3ใ€MEFVใ€TNFRSF1Aใ€MVK้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—‡ไพ‹ใซใ€2008ๅนดNLRP12้บไผๅญใซใƒ˜ใƒ†ใƒญๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹๏ผˆfamilial cold autoinflammatory syndrome๏ผšFCAS2๏ผ‰ใ€ใ‚ใ‚‹ใ„ใฏNAPS12๏ผˆNLRP12-associated periodic syndrome๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200454 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใฏใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค๏ผˆcryopyrin-associated periodic syndrome๏ผšCAPS๏ผ‰ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšNLRP3ใ€MEFVใ€TNFRSF1Aใ€MVK้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—‡ไพ‹ใซใ€2008ๅนดNLRP12้บไผๅญใซใƒ˜ใƒ†ใƒญๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹๏ผˆfamilial cold autoinflammatory syndrome๏ผšFCAS2๏ผ‰ใ€ใ‚ใ‚‹ใ„ใฏNAPS12๏ผˆNLRP12-associated periodic syndrome๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200454 + NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค NLRP12-associated periodic syndrome + ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใดใƒผ12ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + - + + FCAS2 + familial cold autoinflammatory syndrome + ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹ + + NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅฏ’ๅ†ท่ช˜็™บ่•้บป็–นใ‚’ไธป็—‡็Šถใจใ—ใฆใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃ๏ฝฅใ‚ขใƒฌใƒซใ‚ฎใƒผ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚Phospholipase Cg2๏ผˆPLCG2๏ผ‰้บไผๅญใฎ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200455 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅฏ’ๅ†ท่ช˜็™บ่•้บป็–นใ‚’ไธป็—‡็Šถใจใ—ใฆใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃ๏ฝฅใ‚ขใƒฌใƒซใ‚ฎใƒผ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚Phospholipase Cg2๏ผˆPLCG2๏ผ‰้บไผๅญใฎ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200455 + PLCG2-associated antibody deficiency and immune dysregulation + ใตใ‰ใ™ใตใ‰ใ‚Šใฑใƒผใœใ—ใƒผใŒใ‚“ใพ2ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใŸใ„ใ‘ใฃใใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ - + PLAID ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚RBCK1ๆฌ ๆ็—‡ใฏใ€็นฐใ‚Š่ฟ”ใ™็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ถ™็ถšใ™ใ‚‹็‚Ž็—‡็—…ๆ…‹ใ€็ญ‹๏ฝฅๅฟƒ็ญ‹๏ฝฅ่‚่‡“ใซ็›ด้Ž–ไธŠใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใฎใŸใ‚ใ€ๅฟƒ็ญ‹้šœๅฎณใ€็ญ‹้šœๅฎณใ‚’ใใŸใ™ใ€‚NF-kBๆดปๆ€งๅŒ–ใซ้–ขใ‚ใ‚‹ใ€LUBAC(linear ubiquitin chain assembly)ใฎไธ€ๆง‹ๆˆๅˆ†ๅญใงใ‚ใ‚‹RBCK1้บไผๅญใฎๆฉŸ่ƒฝๅ–ชๅคฑใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200456 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚RBCK1ๆฌ ๆ็—‡ใฏใ€็นฐใ‚Š่ฟ”ใ™็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ถ™็ถšใ™ใ‚‹็‚Ž็—‡็—…ๆ…‹ใ€็ญ‹๏ฝฅๅฟƒ็ญ‹๏ฝฅ่‚่‡“ใซ็›ด้Ž–ไธŠใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใฎใŸใ‚ใ€ๅฟƒ็ญ‹้šœๅฎณใ€็ญ‹้šœๅฎณใ‚’ใใŸใ™ใ€‚NF-kBๆดปๆ€งๅŒ–ใซ้–ขใ‚ใ‚‹ใ€LUBAC(linear ubiquitin chain assembly)ใฎไธ€ๆง‹ๆˆๅˆ†ๅญใงใ‚ใ‚‹RBCK1้บไผๅญใฎๆฉŸ่ƒฝๅ–ชๅคฑใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200456 + RBCK1 deficiency RBCK1ๆฌ ๆ็—‡ + ใ‚ใƒผใ‚‹ใณใƒผใ—ใƒผใ‘ใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + RBCK1ๆฌ ๆ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚SLC29A3็•ฐๅธธ็—‡ใฏใ€SLC29A3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒฉใƒ–ๅฎถ็ณปใ‚’ไธญๅฟƒใซใ€SLC29A3ๅค‰็•ฐใŒๅŽŸๅ› ใงใ€้ ญๆ–‡ๅญ—ใŒHใงๅง‹ใพใ‚‹ใ€่‰ฒ็ด ้Žๅ‰ฐ็—‡ (Hyperpigmentation), ๅคšๆฏ›็—‡ (Hypertrichosis), ่‚่„พ่…ซ (Hepatosplenomegaly), ๅฟƒๅฅ‡ๅฝข (Heart anomalies), ้›ฃ่ด (Hearing loss), ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ (Hypogonadism), ไฝŽ่บซ้•ท (low Height), ้ซ˜่ก€็ณ– (Hyperglycemia)ใจใ„ใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹H็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€่‡ชๅทฑ็‚Ž็—‡็—‡็Šถใ‚’ๆœ‰ใ—ใ€H็—‡ๅ€™็พคใจๅ…ฑ้€šใฎ็šฎ่†š็—‡็Šถใ‚’ๅ‘ˆใ—ใŸๅฐๅ…ใงSLC29A3ๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€ใ“ใฎ้บไผๅญๅค‰็•ฐใ‚‚่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎๅŽŸๅ› ใจใชใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ - 2200457 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚SLC29A3็•ฐๅธธ็—‡ใฏใ€SLC29A3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒฉใƒ–ๅฎถ็ณปใ‚’ไธญๅฟƒใซใ€SLC29A3ๅค‰็•ฐใŒๅŽŸๅ› ใงใ€้ ญๆ–‡ๅญ—ใŒHใงๅง‹ใพใ‚‹ใ€่‰ฒ็ด ้Žๅ‰ฐ็—‡ (Hyperpigmentation), ๅคšๆฏ›็—‡ (Hypertrichosis), ่‚่„พ่…ซ (Hepatosplenomegaly), ๅฟƒๅฅ‡ๅฝข (Heart anomalies), ้›ฃ่ด (Hearing loss), ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ (Hypogonadism), ไฝŽ่บซ้•ท (low Height), ้ซ˜่ก€็ณ– (Hyperglycemia)ใจใ„ใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹H็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€่‡ชๅทฑ็‚Ž็—‡็—‡็Šถใ‚’ๆœ‰ใ—ใ€H็—‡ๅ€™็พคใจๅ…ฑ้€šใฎ็šฎ่†š็—‡็Šถใ‚’ๅ‘ˆใ—ใŸๅฐๅ…ใงSLC29A3ๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€ใ“ใฎ้บไผๅญๅค‰็•ฐใ‚‚่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎๅŽŸๅ› ใจใชใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ + NANDO:2200457 + SLC29A3 deficiency SLC29A3็•ฐๅธธ็—‡ + ใˆใ™ใˆใ‚‹ใ—ใƒผ29ใˆใƒผ3ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + SLC29A3็•ฐๅธธ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚TNFAIP3้บไผๅญใซใ‚ˆใ‚Šใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹ๅˆ†ๅญA20ใฏใ€tumor necrosis factor (TNF) โ€“ nuclear factor (NF)-ฮบB็ตŒ่ทฏใ‚’ๆŠ‘ๅˆถ็š„ใซ่ชฟ็ฏ€ใ™ใ‚‹ๅˆ†ๅญใงใ‚ใ‚‹ใ€‚2015ๅนด12ๆœˆใซTNFAIP3้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง่‹ฅๅนด็™บ็—‡ใ™ใ‚‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ๆง˜ใฎ็–พๆ‚ฃใจใ—ใฆA20ใƒใƒ—ใƒญไธๅ…จ็—‡(HA20)ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚A20ใซใฏNๆœซ็ซฏ้ ˜ๅŸŸใฎovarian tumor (OTU)ใƒ‰ใƒกใ‚คใƒณใจCๆœซ็ซฏ้ ˜ๅŸŸใซ7ใคใฎzinc finger(ZF)ใƒ‰ใƒกใ‚คใƒณใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚ŒTNF-ฮฑใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซใŠใ„ใฆRIP1ใฎK63ใƒใƒชใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’่„ฑใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–ใ™ใ‚‹ไฝœ็”จใจใ€4็•ช็›ฎใฎZFใŒreceptor interacting protein kinase 1 (RIP1)ใซK48ใƒใƒใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’ไป˜ๅŠ ใ™ใ‚‹ใ“ใจใงใ€ใƒ—ใƒญใƒ†ใ‚ขใƒผใ‚ผใซใ‚ˆใ‚Šๅˆ†่งฃใ™ใ‚‹ไฝœ็”จใ‚’ๆŒใคใ€‚ใพใŸใ€7็•ช็›ฎใฎZFใŒ็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใจ็ตๅˆใ™ใ‚‹ใ“ใจใงใ€ใƒชใ‚ฌใƒณใƒ‰ๅˆบๆฟ€ใซใ‚ˆใ‚Šๅคš้‡ไฝ“ใ‚’ๅฝขๆˆใ—ใ‚ˆใ†ใจใ™ใ‚‹TNFๅ—ๅฎนไฝ“่ค‡ๅˆไฝ“ใจใ€ใใ“ใซไผšๅˆใ™ใ‚‹linear ubiquitin chain assembly complex (LUBAC)ใ‚„inhibitor of NF-ฮบB kinase (IKK)่ค‡ๅˆไฝ“ใชใฉใฎNF-ฮบBๆดปๆ€งๅŒ–ๅˆ†ๅญใฎ่งฃ้›ขใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ใ“ใฎ3ใคใฎไฝœ็”จใซใ‚ˆใฃใฆใ€TNF - NF-ฮบB็ตŒ่ทฏใซๅฏพใ—ใฆๆŠ‘ๅˆถ็š„ใซๅƒใใ“ใจใซใชใ‚‹ใ€‚HA20ๆ‚ฃ่€…ใงใฏใ€A20ใฎใƒใƒ—ใƒญไธๅ…จใซใ‚ˆใฃใฆใ€ใ‚ทใ‚ฐใƒŠใƒซไผ้”ๆŠ‘ๅˆถๅŠนๆžœใŒๆธ›ๅผฑใ™ใ‚‹ใ“ใจใŒไธป่ฆใช่ฆๅ› ใจใชใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ…จ่บซๆ€งใฎ็‚Ž็—‡็—…ๆ…‹(ใ™ใชใ‚ใก่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ)ใ‚’็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200458 - + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚TNFAIP3้บไผๅญใซใ‚ˆใ‚Šใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹ๅˆ†ๅญA20ใฏใ€tumor necrosis factor (TNF) โ€“ nuclear factor (NF)-ฮบB็ตŒ่ทฏใ‚’ๆŠ‘ๅˆถ็š„ใซ่ชฟ็ฏ€ใ™ใ‚‹ๅˆ†ๅญใงใ‚ใ‚‹ใ€‚2015ๅนด12ๆœˆใซTNFAIP3้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง่‹ฅๅนด็™บ็—‡ใ™ใ‚‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ๆง˜ใฎ็–พๆ‚ฃใจใ—ใฆA20ใƒใƒ—ใƒญไธๅ…จ็—‡(HA20)ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚A20ใซใฏNๆœซ็ซฏ้ ˜ๅŸŸใฎovarian tumor (OTU)ใƒ‰ใƒกใ‚คใƒณใจCๆœซ็ซฏ้ ˜ๅŸŸใซ7ใคใฎzinc finger(ZF)ใƒ‰ใƒกใ‚คใƒณใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚ŒTNF-ฮฑใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซใŠใ„ใฆRIP1ใฎK63ใƒใƒชใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’่„ฑใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–ใ™ใ‚‹ไฝœ็”จใจใ€4็•ช็›ฎใฎZFใŒreceptor interacting protein kinase 1 (RIP1)ใซK48ใƒใƒใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’ไป˜ๅŠ ใ™ใ‚‹ใ“ใจใงใ€ใƒ—ใƒญใƒ†ใ‚ขใƒผใ‚ผใซใ‚ˆใ‚Šๅˆ†่งฃใ™ใ‚‹ไฝœ็”จใ‚’ๆŒใคใ€‚ใพใŸใ€7็•ช็›ฎใฎZFใŒ็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใจ็ตๅˆใ™ใ‚‹ใ“ใจใงใ€ใƒชใ‚ฌใƒณใƒ‰ๅˆบๆฟ€ใซใ‚ˆใ‚Šๅคš้‡ไฝ“ใ‚’ๅฝขๆˆใ—ใ‚ˆใ†ใจใ™ใ‚‹TNFๅ—ๅฎนไฝ“่ค‡ๅˆไฝ“ใจใ€ใใ“ใซไผšๅˆใ™ใ‚‹linear ubiquitin chain assembly complex (LUBAC)ใ‚„inhibitor of NF-ฮบB kinase (IKK)่ค‡ๅˆไฝ“ใชใฉใฎNF-ฮบBๆดปๆ€งๅŒ–ๅˆ†ๅญใฎ่งฃ้›ขใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ใ“ใฎ3ใคใฎไฝœ็”จใซใ‚ˆใฃใฆใ€TNF - NF-ฮบB็ตŒ่ทฏใซๅฏพใ—ใฆๆŠ‘ๅˆถ็š„ใซๅƒใใ“ใจใซใชใ‚‹ใ€‚HA20ๆ‚ฃ่€…ใงใฏใ€A20ใฎใƒใƒ—ใƒญไธๅ…จใซใ‚ˆใฃใฆใ€ใ‚ทใ‚ฐใƒŠใƒซไผ้”ๆŠ‘ๅˆถๅŠนๆžœใŒๆธ›ๅผฑใ™ใ‚‹ใ“ใจใŒไธป่ฆใช่ฆๅ› ใจใชใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ…จ่บซๆ€งใฎ็‚Ž็—‡็—…ๆ…‹(ใ™ใชใ‚ใก่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ)ใ‚’็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200458 + A20 haploinsufficiency A20ใƒใƒ—ใƒญไธๅ…จ็—‡ + ใˆใƒผ20ใฏใทใ‚ใตใœใ‚“ใ—ใ‚‡ใ† + - + + A20ใƒใƒ—ใƒญไธๅ…จ็—‡ - - 22 - ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRC4็•ฐๅธธ็—‡ใฏใ€NLRC4ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็‚Ž็—‡ใ‚’ไธป็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ไฝ“็ดฐ่ƒžใƒขใ‚ถใ‚คใ‚ฏใฎ็—‡ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200459 - - Familial cold autoinflammatory syndrome 4 + + 22 + ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRC4็•ฐๅธธ็—‡ใฏใ€NLRC4ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็‚Ž็—‡ใ‚’ไธป็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ไฝ“็ดฐ่ƒžใƒขใ‚ถใ‚คใ‚ฏใฎ็—‡ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200459 + + NLRC4 mutation NLRC๏ผ”็•ฐๅธธ็—‡ - + ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใ—ใƒผ4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + FCAS4 - NLRC๏ผ”็•ฐๅธธ็—‡ - - 1 - ็ณ–ๅฐฟ็—…ใฏใ€ใ‚คใƒณใ‚นใƒชใƒณใฎๅˆ†ๆณŒไธๅ…จใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ€ใ‚ใ‚‹ใ„ใฏใใฎไธก่€…ใซใ‚ˆใ‚‹ๆ…ขๆ€ง็š„ใช้ซ˜่ก€็ณ–ใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ไปฃ่ฌ็•ฐๅธธใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฏใ€่†ตฮฒ็ดฐ่ƒžใฎ็ ดๅฃŠใซใ‚ˆใ‚‹ๅ†…ๅ› ๆ€งใ‚คใƒณใ‚นใƒชใƒณไธ่ถณใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€้€šๅธธใฏ็ตถๅฏพ็š„ใชใ‚คใƒณใ‚นใƒชใƒณๆฌ ไนใซ้™ฅใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฎๆฒป็™‚ใฎๅŸบๆœฌใฏใ€ใ‚คใƒณใ‚นใƒชใƒณ่ฃœๅ……็™‚ๆณ•ใงใ‚ใ‚‹ใ€‚ - 2200460 - + + 1 + ็ณ–ๅฐฟ็—…ใฏใ€ใ‚คใƒณใ‚นใƒชใƒณใฎๅˆ†ๆณŒไธๅ…จใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ€ใ‚ใ‚‹ใ„ใฏใใฎไธก่€…ใซใ‚ˆใ‚‹ๆ…ขๆ€ง็š„ใช้ซ˜่ก€็ณ–ใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ไปฃ่ฌ็•ฐๅธธใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฏใ€่†ตฮฒ็ดฐ่ƒžใฎ็ ดๅฃŠใซใ‚ˆใ‚‹ๅ†…ๅ› ๆ€งใ‚คใƒณใ‚นใƒชใƒณไธ่ถณใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€้€šๅธธใฏ็ตถๅฏพ็š„ใชใ‚คใƒณใ‚นใƒชใƒณๆฌ ไนใซ้™ฅใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฎๆฒป็™‚ใฎๅŸบๆœฌใฏใ€ใ‚คใƒณใ‚นใƒชใƒณ่ฃœๅ……็™‚ๆณ•ใงใ‚ใ‚‹ใ€‚ + NANDO:2200460 + + 1ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† 1ๅž‹็ณ–ๅฐฟ็—… Diabetes mellitus type 1 - - - + + 1ๅž‹็ณ–ๅฐฟ็—… - - 6 - ๆ—ฅๆœฌไบบๅฐๅ…2ๅž‹็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใฎ็ด„70๏ฝž80๏ผ…ใฏใ€่จบๆ–ญๆ™‚ใซ่‚ฅๆบ€ใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆˆไบบใฎ็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใงใฏใ€ใ‚ใพใ‚Š่‚ฅๆบ€ใฏ้ก•่‘—ใงใฏใชใ„ใ€‚ใคใพใ‚Šใ€่ฟ‘ๅนดใ€ๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ๅพ“ๆฅใ‹ใ‚‰ๆ—ฅๆœฌไบบใงใฟใ‚‰ใ‚Œใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใจ็—…ๅ› ใƒป็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚่‚ฅๆบ€ใ‚’ไผดใ†ๅฐๅ…2ๅž‹ใงใฏใ€ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใŒใ‚ใ‚Šใ€ใใ‚Œใซไผดใฃใฆใ‚ขใƒ‡ใ‚ฃใƒใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎๅˆ†ๆณŒ็•ฐๅธธใŒ่ตทใใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใŒ้ซ˜ใพใ‚‹ใ“ใจใŒใ€ไธป่ฆใช็—…ๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใจใใ‚Œใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใฎๅข—ๅคงใ‚’ไธญๅฟƒใจใ—ใŸไปฃ่ฌ็•ฐๅธธใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใจใ—ใฆ็พๅœจใ€ๅบƒใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่จ€ใ„ๆ›ใˆใ‚‹ใจใ€่ฟ‘ๅนดๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใ‚’ๅŸบ็คŽใซใ—ใฆ้€ฒ่กŒใ—ใŸ็ณ–ๅฐฟ็—…ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใŸใ ใ—ใ€20๏ฝž30๏ผ…ใฎๆ‚ฃ่€…ใงใฏ่‚ฅๆบ€ใ‚’ไผดใฃใฆใŠใ‚‰ใšใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใจใ„ใ†ใ‚ˆใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใฎไฝŽไธ‹ใ‚’ไธปไฝ“ใจใ™ใ‚‹็พคใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎ็พคใงใฏใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’ไฟƒใ™็ตŒๅฃ่ก€็ณ–้™ไธ‹่–ฌใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200461 - + + 6 + ๆ—ฅๆœฌไบบๅฐๅ…2ๅž‹็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใฎ็ด„70๏ฝž80๏ผ…ใฏใ€่จบๆ–ญๆ™‚ใซ่‚ฅๆบ€ใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆˆไบบใฎ็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใงใฏใ€ใ‚ใพใ‚Š่‚ฅๆบ€ใฏ้ก•่‘—ใงใฏใชใ„ใ€‚ใคใพใ‚Šใ€่ฟ‘ๅนดใ€ๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ๅพ“ๆฅใ‹ใ‚‰ๆ—ฅๆœฌไบบใงใฟใ‚‰ใ‚Œใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใจ็—…ๅ› ใƒป็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚่‚ฅๆบ€ใ‚’ไผดใ†ๅฐๅ…2ๅž‹ใงใฏใ€ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใŒใ‚ใ‚Šใ€ใใ‚Œใซไผดใฃใฆใ‚ขใƒ‡ใ‚ฃใƒใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎๅˆ†ๆณŒ็•ฐๅธธใŒ่ตทใใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใŒ้ซ˜ใพใ‚‹ใ“ใจใŒใ€ไธป่ฆใช็—…ๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใจใใ‚Œใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใฎๅข—ๅคงใ‚’ไธญๅฟƒใจใ—ใŸไปฃ่ฌ็•ฐๅธธใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใจใ—ใฆ็พๅœจใ€ๅบƒใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่จ€ใ„ๆ›ใˆใ‚‹ใจใ€่ฟ‘ๅนดๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใ‚’ๅŸบ็คŽใซใ—ใฆ้€ฒ่กŒใ—ใŸ็ณ–ๅฐฟ็—…ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใŸใ ใ—ใ€20๏ฝž30๏ผ…ใฎๆ‚ฃ่€…ใงใฏ่‚ฅๆบ€ใ‚’ไผดใฃใฆใŠใ‚‰ใšใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใจใ„ใ†ใ‚ˆใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใฎไฝŽไธ‹ใ‚’ไธปไฝ“ใจใ™ใ‚‹็พคใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎ็พคใงใฏใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’ไฟƒใ™็ตŒๅฃ่ก€็ณ–้™ไธ‹่–ฌใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200461 + + 2ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† 2ๅž‹็ณ–ๅฐฟ็—… Diabetes mellitus type 2 - + - + + - 2ๅž‹็ณ–ๅฐฟ็—… - - 4 - ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… (ไปฅไธ‹MODY) ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใง็™บ็—‡ใ™ใ‚‹่‹ฅๅนด็ณ–ๅฐฟ็—…ใงใ‚ใ‚Šใ€็ณ–ไปฃ่ฌใซ้–ขใ‚ใ‚‹ๅ˜ไธ€้บไผๅญใฎๆฉŸ่ƒฝ้šœๅฎณ๏ผˆ้บไผๅญๅค‰็•ฐใ€้บไผๅญๅ…จไฝ“ ใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎๆฌ ๅคฑใชใฉใซใ‚ˆใ‚‹๏ผ‰ใŒๅŽŸๅ› ใจใชใฃใฆ็ณ–ๅฐฟ็—…ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏไปŠๆ—ฅใพใงใซ13็จฎ้กžใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅŽŸๅ› ไธๆ˜ŽใฎMODYXใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200462 - + + 4 + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… (ไปฅไธ‹MODY) ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใง็™บ็—‡ใ™ใ‚‹่‹ฅๅนด็ณ–ๅฐฟ็—…ใงใ‚ใ‚Šใ€็ณ–ไปฃ่ฌใซ้–ขใ‚ใ‚‹ๅ˜ไธ€้บไผๅญใฎๆฉŸ่ƒฝ้šœๅฎณ๏ผˆ้บไผๅญๅค‰็•ฐใ€้บไผๅญๅ…จไฝ“ ใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎๆฌ ๅคฑใชใฉใซใ‚ˆใ‚‹๏ผ‰ใŒๅŽŸๅ› ใจใชใฃใฆ็ณ–ๅฐฟ็—…ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏไปŠๆ—ฅใพใงใซ13็จฎ้กžใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅŽŸๅ› ไธๆ˜ŽใฎMODYXใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200462 + maturity-onset diabetes of the young + ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… - + MODY MODY ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… - - 5 - ใ€Œๆ–ฐ็”Ÿๅ…ใ€ใฏ็”ŸๅพŒ1ใ‹ๆœˆไปฅๅ†…ใ‚’ๆŒ‡ใ™ใŒใ€ใ€Œๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใฏไธ€่ˆฌใซ็”ŸๅพŒ6ใ‹ๆœˆๆœชๆบ€ใซ็™บ็—‡ใ—ใŸ็ณ–ๅฐฟ็—…ใจใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งใฎใ‚‚ใฎใฏๅฐ‘ใชใใ€ๅคšใใฏ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚็”ŸๅพŒ18ใ‹ๆœˆใพใงใซๆฒป็™’ใ™ใ‚‹ไธ€้Žๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใจใ€ไปฅๅพŒใ‚‚ๆŒ็ถšใ™ใ‚‹ๆฐธ็ถšๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200463 - + + 5 + ใ€Œๆ–ฐ็”Ÿๅ…ใ€ใฏ็”ŸๅพŒ1ใ‹ๆœˆไปฅๅ†…ใ‚’ๆŒ‡ใ™ใŒใ€ใ€Œๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใฏไธ€่ˆฌใซ็”ŸๅพŒ6ใ‹ๆœˆๆœชๆบ€ใซ็™บ็—‡ใ—ใŸ็ณ–ๅฐฟ็—…ใจใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งใฎใ‚‚ใฎใฏๅฐ‘ใชใใ€ๅคšใใฏ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚็”ŸๅพŒ18ใ‹ๆœˆใพใงใซๆฒป็™’ใ™ใ‚‹ไธ€้Žๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใจใ€ไปฅๅพŒใ‚‚ๆŒ็ถšใ™ใ‚‹ๆฐธ็ถšๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200463 + neonatal diabetes mellitus + ใ—ใ‚“ใ›ใ„ใ˜ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—… - + ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—… - - 2 - ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“ๆฉŸ่ƒฝใซ็•ฐๅธธใŒใ‚ใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒๆญฃๅธธใซ่กŒใ‚ใ‚Œใชใ„็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚ - 2200464 - + + 2 + ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“ๆฉŸ่ƒฝใซ็•ฐๅธธใŒใ‚ใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒๆญฃๅธธใซ่กŒใ‚ใ‚Œใชใ„็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚ + NANDO:2200464 + insulin receptor abnormality + ใ„ใ‚“ใ™ใ‚Šใ‚“ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ - + ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ - - 3 - ่„‚่‚ช่Ž็ธฎ็—‡ใฏใ€ๅ…จ่บซใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†็š„ใซ่„‚่‚ช็ต„็น”ใŒๆธ›ๅฐ‘ใ€ใ‚ใ‚‹ใ„ใฏๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ซ˜้ ปๅบฆใซใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใƒ‰่ก€็—‡ใ€่„‚่‚ช่‚็ญ‰ใฎ็ณ–่„‚่ณชไปฃ่ฌ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ€‚ - 2200465 - + + 3 + ่„‚่‚ช่Ž็ธฎ็—‡ใฏใ€ๅ…จ่บซใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†็š„ใซ่„‚่‚ช็ต„็น”ใŒๆธ›ๅฐ‘ใ€ใ‚ใ‚‹ใ„ใฏๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ซ˜้ ปๅบฆใซใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใƒ‰่ก€็—‡ใ€่„‚่‚ช่‚็ญ‰ใฎ็ณ–่„‚่ณชไปฃ่ฌ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:2200465 + lipoatrophic diabetes + ใ—ใผใ†ใ„ใ—ใ‚…ใใ›ใ„ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—… - - + - ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—… - - 7 - ็ณ–ๅฐฟ็—…ใฏใ€ๆ…ขๆ€ง็š„ใซ้ซ˜่ก€็ณ–ใ‚’ใใŸใ™็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚1ใ‹ใ‚‰6ใพใงใซ1ๅž‹ใ€2ๅž‹ใ€่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆMODY๏ผ‰ใ€ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ใ€่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€ใŒๆŒ™ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎ็ณ–ๅฐฟ็—…ใจใ—ใฆใ€่†ตๅค–ๅˆ†ๆณŒ็–พๆ‚ฃใ€ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ€่–ฌๅ‰คใ‚„ๅŒ–ๅญฆ็‰ฉ่ณชใซใ‚ˆใ‚‹ใ‚‚ใฎใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚‹ใพใ‚Œใช็—…ๆ…‹ใ€ใใฎไป–ใฎ้บไผ็š„็—‡ๅ€™็พคใง็ณ–ๅฐฟ็—…ใ‚’ไผดใ†ใ“ใจใฎๅคšใ„ใ‚‚ใฎใ€ใชใฉใŒใ‚ใ‚‹ใ€‚ - 2200466 - + + 7 + ็ณ–ๅฐฟ็—…ใฏใ€ๆ…ขๆ€ง็š„ใซ้ซ˜่ก€็ณ–ใ‚’ใใŸใ™็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚1ใ‹ใ‚‰6ใพใงใซ1ๅž‹ใ€2ๅž‹ใ€่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆMODY๏ผ‰ใ€ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ใ€่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€ใŒๆŒ™ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎ็ณ–ๅฐฟ็—…ใจใ—ใฆใ€่†ตๅค–ๅˆ†ๆณŒ็–พๆ‚ฃใ€ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ€่–ฌๅ‰คใ‚„ๅŒ–ๅญฆ็‰ฉ่ณชใซใ‚ˆใ‚‹ใ‚‚ใฎใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚‹ใพใ‚Œใช็—…ๆ…‹ใ€ใใฎไป–ใฎ้บไผ็š„็—‡ๅ€™็พคใง็ณ–ๅฐฟ็—…ใ‚’ไผดใ†ใ“ใจใฎๅคšใ„ใ‚‚ใฎใ€ใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:2200466 + + 1ใ‹ใ‚‰6ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ† 1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—… Other diabetes mellitus - + 1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—… - - 17 - ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆHPA๏ผ‰ใฏใ€L-ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ‚’L-ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ™ใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–ๅๅฟœใฎ็•ฐๅธธใซใ‚ˆใ‚Š่ก€ๆผฟไธญPheๅ€คใŒ2mg/dlใ‚’่ถŠใˆใ‚‹็Šถๆ…‹ใงใ€ใใฎๅŽŸๅ› ใซใ‚ˆใ‚Šใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใฎ็•ฐๅธธใจใใฎ่ฃœ้…ต็ด ใฎใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎไปฃ่ฌ็•ฐๅธธใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผˆBH4ๆฌ ๆ็—‡ใฏๅˆฅ้ …ๅ‚็…ง๏ผ‰ใ€‚PKUใฏใ€่จบๆ–ญๆ™‚ใฎ่ก€ๆผฟไธญPheๅ€คใซใ‚ˆใ‚Šๅคๅ…ธ็š„PKU๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใ€่ปฝ็—‡PKU๏ผˆ10mg/dlไปฅไธŠ20mg/dl ๆœชๆบ€๏ผ‰ใ€่ปฝ็—‡HPA๏ผˆ10mg/dlๆœชๆบ€๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚BH4ๅๅฟœๆ€งPAHๆฌ ๆ็—‡ใฏใ€PKUใจๅŒใ˜PAHใฎ็•ฐๅธธใงใ‚ใ‚‹ใŒ่ฃœ้…ต็ด BH4ใซๅๅฟœใ—ใฆ่ก€ไธญPheๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚BH4ๅๅฟœๆ€งPKU ใ‚„BH4ๅๅฟœๆ€งHPAใจใ‚ˆใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ - 2200467 - + + 17 + ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆHPA๏ผ‰ใฏใ€L-ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ‚’L-ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ™ใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–ๅๅฟœใฎ็•ฐๅธธใซใ‚ˆใ‚Š่ก€ๆผฟไธญPheๅ€คใŒ2mg/dlใ‚’่ถŠใˆใ‚‹็Šถๆ…‹ใงใ€ใใฎๅŽŸๅ› ใซใ‚ˆใ‚Šใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใฎ็•ฐๅธธใจใใฎ่ฃœ้…ต็ด ใฎใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎไปฃ่ฌ็•ฐๅธธใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผˆBH4ๆฌ ๆ็—‡ใฏๅˆฅ้ …ๅ‚็…ง๏ผ‰ใ€‚PKUใฏใ€่จบๆ–ญๆ™‚ใฎ่ก€ๆผฟไธญPheๅ€คใซใ‚ˆใ‚Šๅคๅ…ธ็š„PKU๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใ€่ปฝ็—‡PKU๏ผˆ10mg/dlไปฅไธŠ20mg/dl ๆœชๆบ€๏ผ‰ใ€่ปฝ็—‡HPA๏ผˆ10mg/dlๆœชๆบ€๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚BH4ๅๅฟœๆ€งPAHๆฌ ๆ็—‡ใฏใ€PKUใจๅŒใ˜PAHใฎ็•ฐๅธธใงใ‚ใ‚‹ใŒ่ฃœ้…ต็ด BH4ใซๅๅฟœใ—ใฆ่ก€ไธญPheๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚BH4ๅๅฟœๆ€งPKU ใ‚„BH4ๅๅฟœๆ€งHPAใจใ‚ˆใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ + NANDO:2200467 + Phenylketonuria + ใตใ‡ใซใ‚‹ใ‘ใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡ + - - + HPA Hyperphenylalaninemia PKU ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ - ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡ - - 8 - ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸ ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณ ใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€ IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃ ๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200468 - + + 8 + ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸ ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณ ใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€ IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃ ๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200468 + Tyrosinemia type 1 + ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ + - + + Tyrosinaemia type 1 ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ - - 9 - ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญ ใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒ ใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€II ๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒ ไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃ ใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200469 - + + 9 + ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญ ใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒ ใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€II ๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒ ไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃ ใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200469 + Tyrosinemia type 2 + ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†2ใŒใŸ ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ + - + + Tyrosinaemia type 2 ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ - - 10 - ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200470 - + + 10 + ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200470 + Tyrosinemia type 3 + ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†3ใŒใŸ ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ + - + + Tyrosinaemia type 3 ้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ - - 11 - ้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ใฏ1ๅž‹ใจ2ๅž‹ใฎ2ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1ๅž‹ใฏใƒ—ใƒญใƒชใƒณ้…ธๅŒ–้…ต็ด ใฎ็•ฐๅธธใ€2ๅž‹ใฏP5C (pyrroline-5-carboxylic acid)่„ฑๆฐด็ด ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚Šใ€่ก€ไธญใฎใƒ—ใƒญใƒชใƒณใŒไธŠๆ˜‡ใ™ใ‚‹ใ€‚ - 2200471 - + + 11 + ้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ใฏ1ๅž‹ใจ2ๅž‹ใฎ2ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1ๅž‹ใฏใƒ—ใƒญใƒชใƒณ้…ธๅŒ–้…ต็ด ใฎ็•ฐๅธธใ€2ๅž‹ใฏP5C (pyrroline-5-carboxylic acid)่„ฑๆฐด็ด ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚Šใ€่ก€ไธญใฎใƒ—ใƒญใƒชใƒณใŒไธŠๆ˜‡ใ™ใ‚‹ใ€‚ + NANDO:2200471 + Hyperprolinemia + ใ“ใ†ใทใ‚ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ - + + Hyperprolinaemia ้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ - - 18 - ใƒšใƒ—ใƒใƒ‰ใฎๅŠ ๆฐดๅˆ†่งฃใซใŠใ„ใฆใ€Cๆœซ็ซฏใซใƒ—ใƒญใƒชใƒณใ€ใพใŸใฏใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‚’ๆœ‰ใ™ใ‚‹ใ‚ธใƒšใƒ—ใƒใƒ‰ใ€ใ‚ชใƒชใ‚ดใƒšใƒ—ใƒใƒ‰ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200472 - + + 18 + ใƒšใƒ—ใƒใƒ‰ใฎๅŠ ๆฐดๅˆ†่งฃใซใŠใ„ใฆใ€Cๆœซ็ซฏใซใƒ—ใƒญใƒชใƒณใ€ใพใŸใฏใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‚’ๆœ‰ใ™ใ‚‹ใ‚ธใƒšใƒ—ใƒใƒ‰ใ€ใ‚ชใƒชใ‚ดใƒšใƒ—ใƒใƒ‰ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200472 + Prolidase deficiency + ใทใ‚ใ‚Šใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - + Hyperimidodipeptiduria ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - - 20 - ๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใ€ใƒใƒชใƒณใฎไปฃ่ฌใซ็”ฑๆฅใ™ใ‚‹ฮฑ-ใ‚ฑใƒˆ้…ธใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่กŒใ†ใ€ๅˆ†ๆž้Ž–ฮฑ-ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็”Ÿ้ ปๅบฆใฏ็ด„50ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆไธญๆžข็ฅž็ตŒ้šœๅฎณใจใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’่ชใ‚ใ‚‹ใ€‚็”ŸๅพŒ1-2้€ฑ้–“ใง็™บ็—‡ใ™ใ‚‹ๅคๅ…ธๅž‹ใจใ€่‡จๅบŠ็—‡็ŠถใŒใ‚„ใ‚„่ปฝๅบฆใชไธญ้–“ๅž‹ใ€้€šๅธธใฏ็„ก็—‡็Šถใงๆ€ฅๆ€งๅข—ๆ‚ชใ‚’่ตทใ“ใ™้–“ๆฌ ๅž‹ใชใฉใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚ - 2200473 - + + 20 + ๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใ€ใƒใƒชใƒณใฎไปฃ่ฌใซ็”ฑๆฅใ™ใ‚‹ฮฑ-ใ‚ฑใƒˆ้…ธใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่กŒใ†ใ€ๅˆ†ๆž้Ž–ฮฑ-ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็”Ÿ้ ปๅบฆใฏ็ด„50ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆไธญๆžข็ฅž็ตŒ้šœๅฎณใจใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’่ชใ‚ใ‚‹ใ€‚็”ŸๅพŒ1-2้€ฑ้–“ใง็™บ็—‡ใ™ใ‚‹ๅคๅ…ธๅž‹ใจใ€่‡จๅบŠ็—‡็ŠถใŒใ‚„ใ‚„่ปฝๅบฆใชไธญ้–“ๅž‹ใ€้€šๅธธใฏ็„ก็—‡็Šถใงๆ€ฅๆ€งๅข—ๆ‚ชใ‚’่ตทใ“ใ™้–“ๆฌ ๅž‹ใชใฉใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200473 + maple syrup urine disease + ใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ† ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + - - + ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ - - 19 - ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใƒกใƒใ‚ชใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใŒ่ก€ไธญใซ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใฎ้‡ๅˆไฝ“ใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณใŒๅฐฟไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚็‹ญ็พฉใฎใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใ‚ทใ‚นใ‚ฟใƒใ‚ชใƒ‹ใƒณฮฒๅˆๆˆ้…ต็ด (CBS)ๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใ“ใ‚Œใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ - 2200474 - + + 19 + ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใƒกใƒใ‚ชใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใŒ่ก€ไธญใซ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใฎ้‡ๅˆไฝ“ใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณใŒๅฐฟไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚็‹ญ็พฉใฎใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใ‚ทใ‚นใ‚ฟใƒใ‚ชใƒ‹ใƒณฮฒๅˆๆˆ้…ต็ด (CBS)ๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใ“ใ‚Œใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ + NANDO:2200474 + Homocystinuria + ใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ - + ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ - - 12 - ใƒกใƒใ‚ชใƒ‹ใƒณใ‚ขใƒ‡ใƒŽใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๆŒ็ถšๆ€งใฎ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๅ˜็‹ฌใฎไธŠๆ˜‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ(AD)ใ™ใ‚‹็—…ๅž‹ใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๆฟƒๅบฆใŒ10mg/dlไปฅไธ‹ใงใ‚ใ‚Š่‡จๅบŠ็š„ใซ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ(AR)ใ™ใ‚‹็—…ๅž‹ใงใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณใฎ้ซ˜ๅ€ค๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใŒๆŒ็ถšใ—่„ฑ้ซ„ใ‚’ไผดใ†ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹1) - 2200475 - + + 12 + ใƒกใƒใ‚ชใƒ‹ใƒณใ‚ขใƒ‡ใƒŽใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๆŒ็ถšๆ€งใฎ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๅ˜็‹ฌใฎไธŠๆ˜‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ(AD)ใ™ใ‚‹็—…ๅž‹ใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๆฟƒๅบฆใŒ10mg/dlไปฅไธ‹ใงใ‚ใ‚Š่‡จๅบŠ็š„ใซ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ(AR)ใ™ใ‚‹็—…ๅž‹ใงใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณใฎ้ซ˜ๅ€ค๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใŒๆŒ็ถšใ—่„ฑ้ซ„ใ‚’ไผดใ†ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹1) + NANDO:2200475 + Hypermethioninemia + ใ“ใ†ใ‚ใกใŠใซใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡ - + + Hypermethioninaemia ้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡ - - 16 - ไธญๆžข็ฅž็ตŒ็ณปใ€่‚่‡“ใ€่…Ž่‡“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅˆ†ๅธƒใ™ใ‚‹ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎ้บไผ็š„ใชๆฌ ๆใฎใŸใ‚ใซใ€่ก€ๆผฟใ‚„้ซ„ๆถฒใชใฉใฎไฝ“ๆถฒไธญใซๅคง้‡ใฎใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ทใƒณใฏไธญๆžข็ฅž็ตŒ็ณปใง็ฅž็ตŒไผ้”็‰ฉ่ณชใจใ—ใฆๅƒใใŸใ‚ใ€ใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใง้‡็ฏคใช็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚ - 2200476 - - Nonketotic hyperglycinaemia + + 16 + ไธญๆžข็ฅž็ตŒ็ณปใ€่‚่‡“ใ€่…Ž่‡“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅˆ†ๅธƒใ™ใ‚‹ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎ้บไผ็š„ใชๆฌ ๆใฎใŸใ‚ใซใ€่ก€ๆผฟใ‚„้ซ„ๆถฒใชใฉใฎไฝ“ๆถฒไธญใซๅคง้‡ใฎใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ทใƒณใฏไธญๆžข็ฅž็ตŒ็ณปใง็ฅž็ตŒไผ้”็‰ฉ่ณชใจใ—ใฆๅƒใใŸใ‚ใ€ใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใง้‡็ฏคใช็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚ + NANDO:2200476 + + Nonketotic hyperglycinemia + ใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ - + + - + + NKH + Nonketotic hyperglycinaemia + ้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡ - - 3 - ใ‚ขใƒณใƒขใƒ‹ใ‚ขใฏ่‚่‡“ใซใŠใ„ใฆๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใ‚’็ตŒใฆใ€็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎๅๅฟœใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1 (CPS1)ใงใ‚ใ‚‹ใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ(NAG)ใฏใ€CPS1ใฎๆดปๆ€งๅŒ–ใซๅƒใใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด (NAGS)ๆฌ ๆ็—‡ใงใฏใ€NAGใฎๅˆๆˆไฝŽไธ‹ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200477 - + + 3 + ใ‚ขใƒณใƒขใƒ‹ใ‚ขใฏ่‚่‡“ใซใŠใ„ใฆๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใ‚’็ตŒใฆใ€็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎๅๅฟœใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1 (CPS1)ใงใ‚ใ‚‹ใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ(NAG)ใฏใ€CPS1ใฎๆดปๆ€งๅŒ–ใซๅƒใใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด (NAGS)ๆฌ ๆ็—‡ใงใฏใ€NAGใฎๅˆๆˆไฝŽไธ‹ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200477 + N-acetylglutamate synthetase deficiency N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + ใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + NAGS deficiency N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - - 5 - ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎใ‚นใƒ†ใƒƒใƒ—ใงใ‚ใ‚‹ใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ใฎใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1(CPS1)ใงใ‚ใ‚‹ใ€‚CPS1ๆฌ ๆ็—‡ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200478 - + + 5 + ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎใ‚นใƒ†ใƒƒใƒ—ใงใ‚ใ‚‹ใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ใฎใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1(CPS1)ใงใ‚ใ‚‹ใ€‚CPS1ๆฌ ๆ็—‡ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200478 + Carbamoylphosphate synthetase deficiency + ใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + - + + carbamyl phosphate synthetase deficiency + ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - - 4 - ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไบŒๆฎต้šŽ็›ฎใฎๅๅฟœ๏ผˆใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธใจใ‚ชใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ทใƒˆใƒซใƒชใƒณใ‚’ๅˆๆˆ๏ผ‰ใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผ(OTC)ใงใ‚ใ‚‹ใ€‚OTCๆฌ ๆ็—‡ใฏๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฎไธญใงใฏๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ€‚X้€ฃ้Ž–ๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅฅณๆ€งใงใ‚‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใฎ็จ‹ๅบฆใซใ‚ˆใฃใฆๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰็„ก็—‡็Šถไพ‹ใพใงๆง˜ใ€…ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200479 - - Ornitine transcarbamylase deficiency + + 4 + ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไบŒๆฎต้šŽ็›ฎใฎๅๅฟœ๏ผˆใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธใจใ‚ชใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ทใƒˆใƒซใƒชใƒณใ‚’ๅˆๆˆ๏ผ‰ใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผ(OTC)ใงใ‚ใ‚‹ใ€‚OTCๆฌ ๆ็—‡ใฏๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฎไธญใงใฏๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ€‚X้€ฃ้Ž–ๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅฅณๆ€งใงใ‚‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใฎ็จ‹ๅบฆใซใ‚ˆใฃใฆๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰็„ก็—‡็Šถไพ‹ใพใงๆง˜ใ€…ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200479 + + Ornithine transcarbamylase deficiency + ใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + - + + ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 1 - ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไธ‰ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด (ASS)ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒซใƒชใƒณใจใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‹ใ‚‰ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ๅˆๆˆใ™ใ‚‹ใ€‚ASSๆฌ ๆ็—‡ใงใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใจใจใ‚‚ใซใ€่ก€ไธญใ‚ทใƒˆใƒซใƒชใƒณใŒ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹(CTLN1)ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ - 2200480 - + + 1 + ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไธ‰ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด (ASS)ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒซใƒชใƒณใจใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‹ใ‚‰ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ๅˆๆˆใ™ใ‚‹ใ€‚ASSๆฌ ๆ็—‡ใงใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใจใจใ‚‚ใซใ€่ก€ไธญใ‚ทใƒˆใƒซใƒชใƒณใŒ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹(CTLN1)ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200480 + Argininosuccinate synthetase deficiency + ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - + + CTLN1 + CTLN1 Citrullinaemia type 1 - ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ + ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹ ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - - 2 - ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡(ASA)ใฏใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆ†่งฃ้…ต็ด (AL)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๅ››ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒALใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใจใƒ•ใƒžใƒซ้…ธใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚ - 2200481 - + + 2 + ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡(ASA)ใฏใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆ†่งฃ้…ต็ด (AL)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๅ››ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒALใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใจใƒ•ใƒžใƒซ้…ธใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚ + NANDO:2200481 + Argininosuccinic aciduria + ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + - - + ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ - - 6 - ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‚’็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ™ใ‚‹ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€็ต‚ๆฎต้šŽใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ‚’ๅฐฟ็ด ใจใ‚ชใƒซใƒ‹ใƒใƒณใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใฎ้šœๅฎณใซใ‚ˆใ‚Š่ก€ไธญใƒปๅฐฟไธญใซใ‚ขใƒซใ‚ฎใƒ‹ใƒณไธŠๆ˜‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200482 - - Hyperarginemia + + 6 + ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‚’็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ™ใ‚‹ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€็ต‚ๆฎต้šŽใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ‚’ๅฐฟ็ด ใจใ‚ชใƒซใƒ‹ใƒใƒณใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใฎ้šœๅฎณใซใ‚ˆใ‚Š่ก€ไธญใƒปๅฐฟไธญใซใ‚ขใƒซใ‚ฎใƒ‹ใƒณไธŠๆ˜‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200482 + + Hyperargininemia + ใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ + - + + Hyperargininaemia + ้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ - - 14 - ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใซใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ทใƒˆใƒชใƒณๆฌ ๆใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผˆneonatal intrahepatic cholestasis caused by citin deficiency: NICCD๏ผ‰ใจๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆadult-onset type 2 citrullinemia: CTLN2๏ผ‰ใฎ2ใคใฎๅนด้ฝขไพๅญ˜ๆ€งใฎ่‡จๅบŠๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹1)2)ใ€‚ใ“ใฎ้–“ใซใ€Œ่ฆ‹ใ‹ใ‘ไธŠๅฅๅบทใ€ใช้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใŒใ‚ใ‚‹ใ€‚ใ“ใฎๆ™‚ๆœŸใฎ็—…ๆ…‹ใƒป็—…ๅž‹ใ‚’FTTDCD (Failure to thrive and dyslipidemia caused by citrin deficiency)ใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹3)ใ€‚ - 2200483 - + + 14 + ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใซใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ทใƒˆใƒชใƒณๆฌ ๆใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผˆneonatal intrahepatic cholestasis caused by citin deficiency: NICCD๏ผ‰ใจๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆadult-onset type 2 citrullinemia: CTLN2๏ผ‰ใฎ2ใคใฎๅนด้ฝขไพๅญ˜ๆ€งใฎ่‡จๅบŠๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹1)2)ใ€‚ใ“ใฎ้–“ใซใ€Œ่ฆ‹ใ‹ใ‘ไธŠๅฅๅบทใ€ใช้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใŒใ‚ใ‚‹ใ€‚ใ“ใฎๆ™‚ๆœŸใฎ็—…ๆ…‹ใƒป็—…ๅž‹ใ‚’FTTDCD (Failure to thrive and dyslipidemia caused by citrin deficiency)ใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹3)ใ€‚ + NANDO:2200483 + Citrin deficiency + ใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ - + - - + ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ - - 7 - 2200484 - + + 7 + NANDO:2200484 + Hyperornithinemia + ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ† ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ - - HHH - + + Hyperornithinaemia ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ - - 7 - ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ HHH็—‡ๅ€™็พค๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅฑ€ๅœจใ™ใ‚‹ใ‚ชใƒซใƒ‹ใƒใƒณ่ผธ้€่›‹็™ฝ๏ผˆORNT1๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผ“ใคใฎๅพดๅ€™๏ผˆ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผ‰ใฎ้ ญๆ–‡ๅญ—ใ‚’ใจใฃใฆHHH็—‡ๅ€™็พคใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏSLC25A15ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹2)ใ€‚ - 2200485 - - Hyperornithinemia-Hyperammonemia-Homocitrullinuria + + 7 + ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ HHH็—‡ๅ€™็พค๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅฑ€ๅœจใ™ใ‚‹ใ‚ชใƒซใƒ‹ใƒใƒณ่ผธ้€่›‹็™ฝ๏ผˆORNT1๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผ“ใคใฎๅพดๅ€™๏ผˆ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผ‰ใฎ้ ญๆ–‡ๅญ—ใ‚’ใจใฃใฆHHH็—‡ๅ€™็พคใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏSLC25A15ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹2)ใ€‚ + NANDO:2200485 + + Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome + ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใƒปใ“ใ†ใ‚ใ‚“ใ‚‚ใซใ‚ใ‘ใฃใ—ใ‚‡ใ†ใƒปใปใ‚‚ใ—ใจใ‚‹ใ‚Šใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค - + HHH + HHH syndrome + Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค - - 7 - ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ก่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ๆœฌ็—‡ใฏใ‚ชใƒซใƒ‹ใƒใƒณฮด-ใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆOAT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้€ฒ่กŒๆ€งใฎ่„ˆ็ตก่†œ็ถฒ่†œๅค‰ๆ€งใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ณๅ›ž่ปข๏ผˆgyrus๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹็‰น็•ฐใช็œผๅบ•ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹1)ใ€‚ - 2200486 - - Gyrate Atrophy of Choroid and Retina + + 7 + ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ก่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ๆœฌ็—‡ใฏใ‚ชใƒซใƒ‹ใƒใƒณฮด-ใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆOAT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้€ฒ่กŒๆ€งใฎ่„ˆ็ตก่†œ็ถฒ่†œๅค‰ๆ€งใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ณๅ›ž่ปข๏ผˆgyrus๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹็‰น็•ฐใช็œผๅบ•ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹1)ใ€‚ + NANDO:2200486 + + Gyrate atrophy of choroid and retina + ใฎใ†ใ‹ใ„ใฆใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚‰ใใพใใ‚‚ใ†ใพใใ„ใ—ใ‚…ใใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ† ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ - + + GACR ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ - - 15 - ่…Žๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณๅฐ่…ธไธŠ็šฎใซๅฑ€ๅœจใ™ใ‚‹ไธญๆ€งใ‚ขใƒŸใƒŽ้…ธ่ผธ้€ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ€ๅฐฟไธญใธใฎๅคง้‡ใฎไธญๆ€งใ‚ขใƒŸใƒŽ้…ธๆŽ’ๆณ„ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใช่‡จๅบŠๅƒใฏใƒšใƒฉใ‚ฐใƒฉๆง˜็šฎ่†š็‚Žใ€ๅฐ่„ณๅคฑ่ชฟ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๅปถใชใฉใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถไพ‹ใ‚‚ๅคšใ„1)2)ใ€‚ - 2200487 - + + 15 + ่…Žๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณๅฐ่…ธไธŠ็šฎใซๅฑ€ๅœจใ™ใ‚‹ไธญๆ€งใ‚ขใƒŸใƒŽ้…ธ่ผธ้€ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ€ๅฐฟไธญใธใฎๅคง้‡ใฎไธญๆ€งใ‚ขใƒŸใƒŽ้…ธๆŽ’ๆณ„ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใช่‡จๅบŠๅƒใฏใƒšใƒฉใ‚ฐใƒฉๆง˜็šฎ่†š็‚Žใ€ๅฐ่„ณๅคฑ่ชฟ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๅปถใชใฉใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถไพ‹ใ‚‚ๅคšใ„1)2)ใ€‚ + NANDO:2200487 + Hartnup disease + ใฏใƒผใจใชใฃใทใณใ‚‡ใ† ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—… - + Hartnup็—… ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—… - - 21 - ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€่›‹็™ฝใฎใฒใจใคใงใ‚ใ‚‹ y+LAT-1( y+L amino acid transporter-1)ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚ŠใŠใ“ใ‚‹ใ€ใ“ใ‚Œใ‚‰ใฎ่†œ่ผธ้€้šœๅฎณใ‚’ใŠใ‚‚ใช็—…ๆ…‹ใจใ™ใ‚‹ใ€‚ไธŠ่จ˜ใ‚ขใƒŸใƒŽ้…ธใฎใ€ๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ - 2200488 - + + 21 + ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€่›‹็™ฝใฎใฒใจใคใงใ‚ใ‚‹ y+LAT-1( y+L amino acid transporter-1)ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚ŠใŠใ“ใ‚‹ใ€ใ“ใ‚Œใ‚‰ใฎ่†œ่ผธ้€้šœๅฎณใ‚’ใŠใ‚‚ใช็—…ๆ…‹ใจใ™ใ‚‹ใ€‚ไธŠ่จ˜ใ‚ขใƒŸใƒŽ้…ธใฎใ€ๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ + NANDO:2200488 + Lysinuric protein intolerance + ใ‚Šใ˜ใ‚“ใซใ‚‡ใ†ใ›ใ„ใŸใ‚“ใฑใใตใŸใ„ใ—ใ‚‡ใ† ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡ + - - + ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡ - - 13 - ใ‚ทใ‚นใƒใƒณใจไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€็ณปใฎ้บไผ็š„็•ฐๅธธใŒๅŽŸๅ› ใจใชใ‚Šใ€ๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใ‚ทใ‚นใƒใƒณใฎๅ†ๅธๅŽ้šœๅฎณใŒ่ตทใ“ใ‚Šๅฐฟ่ทฏๅ†…ใซใ‚ทใ‚นใƒใƒณ็ต็ŸณใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ - 2200489 - + + 13 + ใ‚ทใ‚นใƒใƒณใจไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€็ณปใฎ้บไผ็š„็•ฐๅธธใŒๅŽŸๅ› ใจใชใ‚Šใ€ๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใ‚ทใ‚นใƒใƒณใฎๅ†ๅธๅŽ้šœๅฎณใŒ่ตทใ“ใ‚Šๅฐฟ่ทฏๅ†…ใซใ‚ทใ‚นใƒใƒณ็ต็ŸณใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200489 + Cystinuria + ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ - + ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ - - 22 - ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใ‚„่ผธ้€ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹1ใ€œ21ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎใ‚ขใƒŸใƒŽ้…ธใฎไธŠๆ˜‡ใ‚„ไฝŽไธ‹ใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไฝ†ใ—ใ€ๅคš่‡“ๅ™จไธๅ…จใชใฉใฎ็•ฐๅŒ–ไบข้€ฒใซไผดใ†ไบŒๆฌก็š„ใชใ‚ขใƒŸใƒŽ้…ธใƒ—ใƒญใƒ•ใ‚กใ‚คใƒซใฎ็•ฐๅธธใฏ้™คๅค–ใ™ใ‚‹ใ€‚ - 2200490 - + + 22 + ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใ‚„่ผธ้€ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹1ใ€œ21ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎใ‚ขใƒŸใƒŽ้…ธใฎไธŠๆ˜‡ใ‚„ไฝŽไธ‹ใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไฝ†ใ—ใ€ๅคš่‡“ๅ™จไธๅ…จใชใฉใฎ็•ฐๅŒ–ไบข้€ฒใซไผดใ†ไบŒๆฌก็š„ใชใ‚ขใƒŸใƒŽ้…ธใƒ—ใƒญใƒ•ใ‚กใ‚คใƒซใฎ็•ฐๅธธใฏ้™คๅค–ใ™ใ‚‹ใ€‚ + NANDO:2200490 + + 1ใ‹ใ‚‰21ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ใฟใฎใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ Other disorders of amino acid metabolism - + 1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - - 110 - ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏไธŠใฎ้…ต็ด ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoAใƒ ใ‚ฟใƒผใ‚ผ (EC 5.4.99.2; MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ - 2200491 - - methylmalonic acidaemia + + 110 + ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏไธŠใฎ้…ต็ด ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoAใƒ ใ‚ฟใƒผใ‚ผ (EC 5.4.99.2; MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ + NANDO:2200491 + + Methylmalonic acidemia + ใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + - + MMA + Methylmalonic acidaemia + ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ - - 107 - ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏใฎไธญ้–“ไปฃ่ฌ้šœๅฎณใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ(MIM #606054)ใ€‚ - 2200492 - - propionic acidaemia + + 107 + ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏใฎไธญ้–“ไปฃ่ฌ้šœๅฎณใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ(MIM #606054)ใ€‚ + NANDO:2200492 + + Propionic acidemia + ใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ - + + - + PA + Propionic acidaemia + ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ - - 108 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200493 - + + 108 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200493 + beta-ketothiolase deficiency - ฮฒ-ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + ในใƒผใŸใ‘ใจใกใŠใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + - ฮฒ-ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - - 96 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้…ต็ด ใงใ‚ใ‚‹ใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€IVD้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚Šใƒญใ‚คใ‚ทใƒณใซ็”ฑๆฅใ™ใ‚‹ใ‚คใ‚ฝๅ‰่‰้…ธใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ฐใƒชใ‚ทใƒณใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใ€็‰นใซ้ฃข้ค“ๆ™‚ใซ้ซ˜ๅบฆใฎ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚„ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ—ๆญปไบกใ—ใŸใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใŸใ‚Šใ™ใ‚‹ใŒใ€ๆ—ฉๆœŸใซ่จบๆ–ญใ—้ฉๅˆ‡ใซๆฒป็™‚ใ•ใ‚Œใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅ‘ฝไบˆๅพŒใ‚„็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ - 2200494 - - isovaleric acidaemia + ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + 96 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้…ต็ด ใงใ‚ใ‚‹ใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€IVD้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚Šใƒญใ‚คใ‚ทใƒณใซ็”ฑๆฅใ™ใ‚‹ใ‚คใ‚ฝๅ‰่‰้…ธใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ฐใƒชใ‚ทใƒณใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใ€็‰นใซ้ฃข้ค“ๆ™‚ใซ้ซ˜ๅบฆใฎ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚„ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ—ๆญปไบกใ—ใŸใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใŸใ‚Šใ™ใ‚‹ใŒใ€ๆ—ฉๆœŸใซ่จบๆ–ญใ—้ฉๅˆ‡ใซๆฒป็™‚ใ•ใ‚Œใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅ‘ฝไบˆๅพŒใ‚„็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ + NANDO:2200494 + + Isovaleric acidemia + ใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ - + + - + + Isovaleric acidaemia + ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ - - 104 - ใƒญใ‚คใ‚ทใƒณ็•ฐๅŒ–้Ž็จ‹ใฎไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚’3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซ-CoAใซๅค‰ๆ›ใ™ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใฏไนณๅนผๅ…ๆœŸใซๆ„ŸๆŸ“็—‡็ฝนๆ‚ฃ็ญ‰ใ‚’ๅฅ‘ๆฉŸใซReye็—‡ๅ€™็พคๆง˜็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใŒใ€ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถไพ‹ใ‹ใ‚‰้‡ๅบฆใฎ็™บ้”้…ๆปžไพ‹ใชใฉๅคšๅฝฉใช่‡จๅบŠๅƒใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)2)ใ€‚ - 2200495 - + + 104 + ใƒญใ‚คใ‚ทใƒณ็•ฐๅŒ–้Ž็จ‹ใฎไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚’3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซ-CoAใซๅค‰ๆ›ใ™ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใฏไนณๅนผๅ…ๆœŸใซๆ„ŸๆŸ“็—‡็ฝนๆ‚ฃ็ญ‰ใ‚’ๅฅ‘ๆฉŸใซReye็—‡ๅ€™็พคๆง˜็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใŒใ€ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถไพ‹ใ‹ใ‚‰้‡ๅบฆใฎ็™บ้”้…ๆปžไพ‹ใชใฉๅคšๅฝฉใช่‡จๅบŠๅƒใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)2)ใ€‚ + NANDO:2200495 + 3-methylcrotonyl-CoA carboxylase deficiency 3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + 3ใ‚ใกใ‚‹ใใ‚ใจใซใ‚‹ใ“ใˆใƒผใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - + 3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 109 - ๅฐฟไธญใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธ(๏ผ“MGCA)ใฎ้Žๅ‰ฐๆŽ’ๆณ„ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจใฏI-Vใฎ5ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกๅฐฟไธญMGCAใฎ็”ฑๆฅใŒๆ˜Žใ‚‰ใ‹ใชใฎใฏIๅž‹ใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ(MGCH)ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ไป–ใฎ็—…ๅž‹ใฏใ€MGCAใฎๆŽ’ๆณ„ๅข—ๅŠ ใฏไป–ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใ‚‹ไบŒๆฌก็š„ๅค‰ๅŒ–ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200496 - + + 109 + ๅฐฟไธญใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธ(๏ผ“MGCA)ใฎ้Žๅ‰ฐๆŽ’ๆณ„ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจใฏI-Vใฎ5ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกๅฐฟไธญMGCAใฎ็”ฑๆฅใŒๆ˜Žใ‚‰ใ‹ใชใฎใฏIๅž‹ใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ(MGCH)ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ไป–ใฎ็—…ๅž‹ใฏใ€MGCAใฎๆŽ’ๆณ„ๅข—ๅŠ ใฏไป–ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใ‚‹ไบŒๆฌก็š„ๅค‰ๅŒ–ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200496 + Methylglutaconic aciduria + ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ + - + + ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ - - 103 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅญ˜ๅœจใ™ใ‚‹3-hydroxy-3-methylglutaryl-CoA (HMG-CoA)ใƒชใ‚ขใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ใงใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿใจใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€้žใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใจไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ใใŸใ™ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚็ด„ๅŠๆ•ฐใŒๆ–ฐ็”Ÿๅ…ๆœŸใซ๏ผŒใใฎใปใ‹ใฏไนณๅนผๅ…ๆœŸใซๅ˜”ๅใ‚„ๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“็ญ‰ใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใ€‚20๏ผ…ใฏ็™บไฝœๆ™‚ใซๆญปไบกใ™ใ‚‹ใจใ•ใ‚Œใ€็™บ้”้…ๆปžใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ใ€€ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใซใ‚ˆใ‚‹็™บ็—‡ไบˆ้˜ฒใƒป้šœๅฎณไบˆ้˜ฒใŒๅฏ่ƒฝใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใจ่จบๆ–ญใŒใคใ‘ใฐใ€้‡็ฏคใชไฝŽ่ก€็ณ–็™บไฝœใ‚’ๆฅใ•ใฌใ‚ˆใ†ๆณจๆ„ๆทฑใ„ใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200497 - - 3-hydroxy-3-methylglutaric acidaemia + + 103 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅญ˜ๅœจใ™ใ‚‹3-hydroxy-3-methylglutaryl-CoA (HMG-CoA)ใƒชใ‚ขใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ใงใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿใจใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€้žใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใจไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ใใŸใ™ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚็ด„ๅŠๆ•ฐใŒๆ–ฐ็”Ÿๅ…ๆœŸใซ๏ผŒใใฎใปใ‹ใฏไนณๅนผๅ…ๆœŸใซๅ˜”ๅใ‚„ๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“็ญ‰ใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใ€‚20๏ผ…ใฏ็™บไฝœๆ™‚ใซๆญปไบกใ™ใ‚‹ใจใ•ใ‚Œใ€็™บ้”้…ๆปžใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ใ€€ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใซใ‚ˆใ‚‹็™บ็—‡ไบˆ้˜ฒใƒป้šœๅฎณไบˆ้˜ฒใŒๅฏ่ƒฝใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใจ่จบๆ–ญใŒใคใ‘ใฐใ€้‡็ฏคใชไฝŽ่ก€็ณ–็™บไฝœใ‚’ๆฅใ•ใฌใ‚ˆใ†ๆณจๆ„ๆทฑใ„ใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200497 + + 3-hydroxy-3-methylglutaric acidemia 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡ + 3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† - + + 3-hydroxy-3-methylglutaric acidaemia HMG-CoA lyase deficiency 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡ - - 102 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽ - 2200498 - + + 102 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽ + NANDO:2200498 + 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + 3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚Šใ‚‹ใ“ใˆใƒผใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + HMG-CoA synthase deficiency 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - - 101 - ใ‚ฑใƒˆใƒณไฝ“ใฎ่‚ๅค–็ต„็น”ใงใฎๅˆฉ็”จใซ้‡่ฆใชใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA:3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(SCOT)้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200499 - + + 101 + ใ‚ฑใƒˆใƒณไฝ“ใฎ่‚ๅค–็ต„็น”ใงใฎๅˆฉ็”จใซ้‡่ฆใชใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA:3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(SCOT)้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200499 + succinyl-CoA:3-ketoacid CoA transferase deficiency + ใ™ใใ—ใซใ‚‹ใ“ใˆใƒผ๏ผš3ใ‘ใจใ•ใ‚“ใ“ใˆใƒผใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + SCOTๆฌ ๆ็—‡ ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 106 - ใƒ“ใ‚ชใƒใƒณไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ใ‚‚ใ—ใใฏใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Š4็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PCC)ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(MCC)ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PC)ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(ACC)๏ผ‰ใŒๅŒๆ™‚ใซๆดปๆ€งไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200500 - + + 106 + ใƒ“ใ‚ชใƒใƒณไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ใ‚‚ใ—ใใฏใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Š4็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PCC)ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(MCC)ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PC)ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(ACC)๏ผ‰ใŒๅŒๆ™‚ใซๆดปๆ€งไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200500 + multiple carboxylase deficiency + ใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + - - + ่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 98 - ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ - 2200501 - - Glutaric acidaemia type 1 + + 98 + ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ + NANDO:2200501 + + Glutaric acidemia type 1 + ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใคใ—ใ‚‡ใ†1ใŒใŸ ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ + - + + GA1 + Glutaric acidaemia type 1 Glutaryl-CoA dehydrogenase deficiency ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ - - 99 - ใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡๏ผ’ๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ(electron transfer flavoprotein: ETF)ใ‚‚ใ—ใใฏETF่„ฑๆฐด็ด ้…ต็ด (ETF dehydrogenase: ETFDH)ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฐใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡2ๅž‹ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—่‡ดๆญป็š„ใชๆœ€้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏไบŒๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ - 2200502 - - Glutaric acidaemia type 2 + + 99 + ใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡๏ผ’ๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ(electron transfer flavoprotein: ETF)ใ‚‚ใ—ใใฏETF่„ฑๆฐด็ด ้…ต็ด (ETF dehydrogenase: ETFDH)ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฐใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡2ๅž‹ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—่‡ดๆญป็š„ใชๆœ€้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏไบŒๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ + NANDO:2200502 + + Glutaric acidemia type 2 + ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใคใ—ใ‚‡ใ†2ใŒใŸ ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹ + - - Glutaric aciduria type 2 + + GA2 + Glutaric acidaemia type 2 + Multiple acyl-CoA dehydrogenase deficiency multiple acyl-CoA dehydrogenase deficiency ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹ - - 100 - ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹๏ผˆprimary hyperoxaluria type 1; PH1๏ผ‰ใฏ่‚่‡“ใฎใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒฉใƒ‹ใƒณ๏ผšใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆalanine:glyoxylate aminotransferase: AGT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ๅ†…ใฎใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ…กๅž‹๏ผˆPH2๏ผ‰ใฏ่‚่‡“ใฎใ‚ตใ‚คใƒˆใ‚พใƒซใซๅฑ€ๅœจใ™ใ‚‹ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธ้‚„ๅ…ƒ้…ต็ด /ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ”ใƒซใƒ“ใƒณ้…ธ้‚„ๅ…ƒ้…ต็ด (GRHPR)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใฏใ‚ทใƒฅใ‚ฆ้…ธใฎๅ‰้ง†็‰ฉ่ณชใงใ‚ใ‚Šใ€ไธกๅž‹ใจใ‚‚้Žๅ‰ฐใซ็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ทใƒฅใ‚ฆ้…ธใซใ‚ˆใ‚Šใ€ไธๆบถๆ€งใฎใ‚ทใƒฅใ‚ฆ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใŒ่…Ž่‡“ใ‚’ใฏใ˜ใ‚ๅ…จ่บซใฎ่‡“ๅ™จใซๆฒˆ็€ใ—ใฆๅคš่‡“ๅ™จใซ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœ€่ฟ‘ใ€non-PH1/non-PH2ใฎPHใฎๅฎถ็ณปไพ‹ใงใ€ใƒ›ใƒขๆŽฅๅˆไฝ“ใƒžใƒƒใƒ”ใƒณใ‚ฐๆณ•ใซใ‚ˆใ‚Š10็•ชๆŸ“่‰ฒไฝ“q24.2ใซๅญ˜ๅœจใ™ใ‚‹DHDPSL้บไผๅญใฎๅค‰็•ฐใŒ็ฌฌ๏ผ“ใฎPHใฎ็—…ๅ› ใงใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‹ใ‚‰ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใธใฎไปฃ่ฌ็ตŒ่ทฏใซใ‚ใ‚‹้…ต็ด ่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใจ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200503 - + + 100 + ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹๏ผˆprimary hyperoxaluria type 1; PH1๏ผ‰ใฏ่‚่‡“ใฎใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒฉใƒ‹ใƒณ๏ผšใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆalanine:glyoxylate aminotransferase: AGT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ๅ†…ใฎใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ…กๅž‹๏ผˆPH2๏ผ‰ใฏ่‚่‡“ใฎใ‚ตใ‚คใƒˆใ‚พใƒซใซๅฑ€ๅœจใ™ใ‚‹ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธ้‚„ๅ…ƒ้…ต็ด /ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ”ใƒซใƒ“ใƒณ้…ธ้‚„ๅ…ƒ้…ต็ด (GRHPR)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใฏใ‚ทใƒฅใ‚ฆ้…ธใฎๅ‰้ง†็‰ฉ่ณชใงใ‚ใ‚Šใ€ไธกๅž‹ใจใ‚‚้Žๅ‰ฐใซ็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ทใƒฅใ‚ฆ้…ธใซใ‚ˆใ‚Šใ€ไธๆบถๆ€งใฎใ‚ทใƒฅใ‚ฆ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใŒ่…Ž่‡“ใ‚’ใฏใ˜ใ‚ๅ…จ่บซใฎ่‡“ๅ™จใซๆฒˆ็€ใ—ใฆๅคš่‡“ๅ™จใซ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœ€่ฟ‘ใ€non-PH1/non-PH2ใฎPHใฎๅฎถ็ณปไพ‹ใงใ€ใƒ›ใƒขๆŽฅๅˆไฝ“ใƒžใƒƒใƒ”ใƒณใ‚ฐๆณ•ใซใ‚ˆใ‚Š10็•ชๆŸ“่‰ฒไฝ“q24.2ใซๅญ˜ๅœจใ™ใ‚‹DHDPSL้บไผๅญใฎๅค‰็•ฐใŒ็ฌฌ๏ผ“ใฎPHใฎ็—…ๅ› ใงใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‹ใ‚‰ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใธใฎไปฃ่ฌ็ตŒ่ทฏใซใ‚ใ‚‹้…ต็ด ่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใจ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200503 + Primary hyperoxaluria + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ—ใ‚…ใ†ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡ - + ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡ - - 95 - ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใฎไปฃ่ฌ็ตŒ่ทฏไธŠใซไฝ็ฝฎใ™ใ‚‹ใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ(homogentisic acid, HGA)ใ‚’ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใธใจ่ปขๆ›ใ™ใ‚‹HGA-1,2-ใ‚ธใ‚ชใ‚ญใ‚ทใ‚ฒใƒŠใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™(1)ใ€‚ๆœฌ็—‡ใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใฏใ€ๅฐฟไธญใธใฎHGAใฎๆŽ’ๆณ„ๅข—ๅŠ ใ€HGAใƒใƒชใƒžใƒผใ‚„HGAใฎ้…ธๅŒ–็‰ฉใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚‹็ตๅˆ็น”ใฎ่ค่‰ฒๅค‰ๅŒ–ใ€่„ŠๆคŽใ‚„ๅคง้–ข็ฏ€ใฎ้–ข็ฏ€็‚Žใ€ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๅฟƒ่ก€็ฎก็ณปใธHGAใŒๆฒˆ็€ใ™ใ‚‹ใจใ€ๅคงๅ‹•่„ˆๅผใ‚„ๅƒงๅธฝๅผใฎ้–‰้Ž–ไธๅ…จ็—‡ใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ - 2200504 - + + 95 + ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใฎไปฃ่ฌ็ตŒ่ทฏไธŠใซไฝ็ฝฎใ™ใ‚‹ใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ(homogentisic acid, HGA)ใ‚’ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใธใจ่ปขๆ›ใ™ใ‚‹HGA-1,2-ใ‚ธใ‚ชใ‚ญใ‚ทใ‚ฒใƒŠใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™(1)ใ€‚ๆœฌ็—‡ใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใฏใ€ๅฐฟไธญใธใฎHGAใฎๆŽ’ๆณ„ๅข—ๅŠ ใ€HGAใƒใƒชใƒžใƒผใ‚„HGAใฎ้…ธๅŒ–็‰ฉใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚‹็ตๅˆ็น”ใฎ่ค่‰ฒๅค‰ๅŒ–ใ€่„ŠๆคŽใ‚„ๅคง้–ข็ฏ€ใฎ้–ข็ฏ€็‚Žใ€ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๅฟƒ่ก€็ฎก็ณปใธHGAใŒๆฒˆ็€ใ™ใ‚‹ใจใ€ๅคงๅ‹•่„ˆๅผใ‚„ๅƒงๅธฝๅผใฎ้–‰้Ž–ไธๅ…จ็—‡ใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ + NANDO:2200504 + Alkaptonuria + ใ‚ใ‚‹ใ‹ใทใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ - + ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ - - 97 - ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซใ‚ญใƒŠใƒผใ‚ผ (GK) ๆฌ ๆ็—‡๏ผˆGKD; OMIM #307030๏ผ‰ใฏใ€้ซ˜ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ่ก€็—‡ใจๅฐฟไธญใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๆŽ’ๆณ„ไบข้€ฒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚GK ใซใ‚ˆใฃใฆ็”Ÿๆˆใ™ใ‚‹ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ-3-ใƒชใƒณ้…ธใฏใ€ไธญๆ€ง่„‚่‚ชใชใฉใฎ่„‚่ณชๅˆๆˆใ‚„็ณ–ๆ–ฐ็”ŸใฎๅŸบ่ณชใงใ‚ใ‚Šใ€GKD ๆ‚ฃ่€…ใฏใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใ‚’ไธปๅพดใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใ€‚ - 2200505 - + + 97 + ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซใ‚ญใƒŠใƒผใ‚ผ (GK) ๆฌ ๆ็—‡๏ผˆGKD; OMIM #307030๏ผ‰ใฏใ€้ซ˜ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ่ก€็—‡ใจๅฐฟไธญใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๆŽ’ๆณ„ไบข้€ฒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚GK ใซใ‚ˆใฃใฆ็”Ÿๆˆใ™ใ‚‹ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ-3-ใƒชใƒณ้…ธใฏใ€ไธญๆ€ง่„‚่‚ชใชใฉใฎ่„‚่ณชๅˆๆˆใ‚„็ณ–ๆ–ฐ็”ŸใฎๅŸบ่ณชใงใ‚ใ‚Šใ€GKD ๆ‚ฃ่€…ใฏใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใ‚’ไธปๅพดใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใ€‚ + NANDO:2200505 + Glycerol kinase deficiency + ใใ‚Šใ›ใ‚ใƒผใ‚‹ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡ + - + GKD ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡ - - 105 - ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใจใฏใ€่ƒ†ๆฑ้…ธ็”Ÿๅˆๆˆ็ตŒ่ทฏ๏ผˆneutral pathwayใจacidic pathway๏ผ‰ใฎ้บไผๆ€ง้…ต็ด ๆฌ ๆใ‚’1ๆฌกๆ€งใฎ็—…ๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ€ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹็•ฐๅธธ่ƒ†ๆฑ้…ธใ‚‚ใ—ใใฏ่ƒ†ๆฑใ‚ขใƒซใ‚ณใƒผใƒซใฎ่‚็ดฐ่ƒžๅ†…่“„็ฉใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ˜็จฎ้กž๏ผˆ3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡ใ€sterol 27-hydroxylase ๆฌ ๆ็—‡ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡ใ€bile acid-CoA: aminoacid N-acyltransferase ๆฌ ๆ็—‡ใ€bile acid-CoA ligase ๆฌ ๆ็—‡ใ€๏ก-methylacyl CoA racemase ๆฌ ๆ็—‡ใ€cholesterol 7๏ก-hydroxylase ๆฌ ๆ็—‡๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆๆœฌ้‚ฆใงใฏ๏ผ“็จฎ๏ผ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผš3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡3ไพ‹ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡3ไพ‹ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡1ไพ‹๏ผ‰ใ€‚ - 2200506 - + + 105 + ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใจใฏใ€่ƒ†ๆฑ้…ธ็”Ÿๅˆๆˆ็ตŒ่ทฏ๏ผˆneutral pathwayใจacidic pathway๏ผ‰ใฎ้บไผๆ€ง้…ต็ด ๆฌ ๆใ‚’1ๆฌกๆ€งใฎ็—…ๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ€ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹็•ฐๅธธ่ƒ†ๆฑ้…ธใ‚‚ใ—ใใฏ่ƒ†ๆฑใ‚ขใƒซใ‚ณใƒผใƒซใฎ่‚็ดฐ่ƒžๅ†…่“„็ฉใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ˜็จฎ้กž๏ผˆ3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡ใ€sterol 27-hydroxylase ๆฌ ๆ็—‡ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡ใ€bile acid-CoA: aminoacid N-acyltransferase ๆฌ ๆ็—‡ใ€bile acid-CoA ligase ๆฌ ๆ็—‡ใ€๏ก-methylacyl CoA racemase ๆฌ ๆ็—‡ใ€cholesterol 7๏ก-hydroxylase ๆฌ ๆ็—‡๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆๆœฌ้‚ฆใงใฏ๏ผ“็จฎ๏ผ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผš3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡3ไพ‹ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡3ไพ‹ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡1ไพ‹๏ผ‰ใ€‚ + NANDO:2200506 + Inborn errors of bile acid metabolism + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - + + ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - - 111 - ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใฎ้Ž็จ‹ใงใ€ใ‚ขใƒŸใƒŽๅŸบใŒๅค–ใ‚ŒใŸๅพŒใฎๅˆ†่งฃใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆœ‰ๆฉŸ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹23ใ€œ38ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„่ฃœ้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎๆœ‰ๆฉŸ้…ธใŒไธŠๆ˜‡ใ™ใ‚‹็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200507 - + + 111 + ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใฎ้Ž็จ‹ใงใ€ใ‚ขใƒŸใƒŽๅŸบใŒๅค–ใ‚ŒใŸๅพŒใฎๅˆ†่งฃใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆœ‰ๆฉŸ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹23ใ€œ38ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„่ฃœ้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎๆœ‰ๆฉŸ้…ธใŒไธŠๆ˜‡ใ™ใ‚‹็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200507 + + 23ใ‹ใ‚‰38ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚†ใ†ใใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ Other disorders of organic acid metabolism - + 23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - - 46 - ใ‚ซใƒซใƒ‹ใƒใƒณใฏใƒ‘ใƒซใƒŸใƒใƒณ้…ธ(C16)ใซไปฃ่กจใ•ใ‚Œใ‚‹้•ท้Ž–่„‚่‚ช้…ธใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธๅ–ใ‚Š่พผใ‚€ใŸใ‚ใฎ่ผธ้€ไฝ“ใจใ—ใฆๅƒใ๏ผŽๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡ใฏ็ดฐ่ƒž่†œไธŠใซๅฑ€ๅœจใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ (OCTN2)ใฎๆฉŸ่ƒฝไฝŽไธ‹ใŒๅŽŸๅ› ใง๏ผŒ็ดฐ่ƒžๅ†…ใ‚ซใƒซใƒ‹ใƒใƒณใŒๆฌ ไนใ—๏ผŒ็ตๆžœใจใ—ใฆ้•ท้Ž–่„‚่‚ช้…ธไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ - 2200508 - + + 46 + ใ‚ซใƒซใƒ‹ใƒใƒณใฏใƒ‘ใƒซใƒŸใƒใƒณ้…ธ(C16)ใซไปฃ่กจใ•ใ‚Œใ‚‹้•ท้Ž–่„‚่‚ช้…ธใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธๅ–ใ‚Š่พผใ‚€ใŸใ‚ใฎ่ผธ้€ไฝ“ใจใ—ใฆๅƒใ๏ผŽๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡ใฏ็ดฐ่ƒž่†œไธŠใซๅฑ€ๅœจใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ (OCTN2)ใฎๆฉŸ่ƒฝไฝŽไธ‹ใŒๅŽŸๅ› ใง๏ผŒ็ดฐ่ƒžๅ†…ใ‚ซใƒซใƒ‹ใƒใƒณใŒๆฌ ไนใ—๏ผŒ็ตๆžœใจใ—ใฆ้•ท้Ž–่„‚่‚ช้…ธไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ + NANDO:2200508 + Organic cation transporter 2 deficiency + ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‹ใ‚‹ใซใกใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡ - + Carnitine uptake defect ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡ - - 41 - ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€่ก€ไธญใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใŒ่‘—ๅข—ใ—ใ€็ทใ‚ซใƒซใƒ‹ใƒใƒณ้‡ใ‚‚ๆญฃๅธธ๏ฝž่ปฝๅบฆๅข—ๅŠ ใ™ใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€ไฝŽใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–็—‡ใจใจใ‚‚ใซReyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹๏ผˆๆณจ1, 2๏ผ‰ใ€‚ - 2200509 - - Carnitine palmitoyl transferase I deficiency + + 41 + ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€่ก€ไธญใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใŒ่‘—ๅข—ใ—ใ€็ทใ‚ซใƒซใƒ‹ใƒใƒณ้‡ใ‚‚ๆญฃๅธธ๏ฝž่ปฝๅบฆๅข—ๅŠ ใ™ใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€ไฝŽใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–็—‡ใจใจใ‚‚ใซReyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹๏ผˆๆณจ1, 2๏ผ‰ใ€‚ + NANDO:2200509 + + Carnitine palmitoyltransferase I deficiency + ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + - + + CPT1ๆฌ ๆ็—‡ ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ - - 42 - ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€Reyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ - 2200510 - - Carnitine palmitoyl transferase II deficiency - ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡ + + 42 + ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€Reyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200510 + + Carnitine palmitoyltransferase II deficiency + ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + - - ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡ - - - 40 - ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€้•ท้Ž–ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅ–ใ‚Š่พผใ‚“ใ ใ‚Šใ€CPT2ใซใ‚ˆใฃใฆๅˆ†้›ขใ•ใ‚ŒใŸ้Š้›ขใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅค–ใซ้‹ใณๅ‡บใ™ๅƒใใ‚’ใ—ใฆใ„ใ‚‹CACTใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฏๅˆ†้›ขใ•ใ‚Œใšใซๅˆฉ็”จใงใใšใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใงใฎ่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CPT IIใจใปใผๅŒใ˜็—…ๆ…‹ใ‚’็คบใ™ใ€‚้ฃข้ค“ๆ™‚ใฎไฝŽ่ก€็ณ–ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใŒใŠใ‚‚ใช็—‡็Šถใงใ‚ใ‚‹ใ€‚ - 2200511 - + + CPT II deficiency + CPT2ๆฌ ๆ็—‡ + + ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + 40 + ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€้•ท้Ž–ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅ–ใ‚Š่พผใ‚“ใ ใ‚Šใ€CPT2ใซใ‚ˆใฃใฆๅˆ†้›ขใ•ใ‚ŒใŸ้Š้›ขใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅค–ใซ้‹ใณๅ‡บใ™ๅƒใใ‚’ใ—ใฆใ„ใ‚‹CACTใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฏๅˆ†้›ขใ•ใ‚Œใšใซๅˆฉ็”จใงใใšใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใงใฎ่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CPT IIใจใปใผๅŒใ˜็—…ๆ…‹ใ‚’็คบใ™ใ€‚้ฃข้ค“ๆ™‚ใฎไฝŽ่ก€็ณ–ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใŒใŠใ‚‚ใช็—‡็Šถใงใ‚ใ‚‹ใ€‚ + NANDO:2200511 + Carnitine-acylcarnitine translocase deficiency - ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + ใ‹ใ‚‹ใซใกใ‚“/ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + - + + CACT deficiency + CACTๆฌ ๆ็—‡ - ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ - - 43 - ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (very-long-chain acyl-CoA dehydrogenase: VLCAD)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œไธŠๅ†…ๅดใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไธ‰้ ญ้…ต็ด ใจใจใจใ‚‚ใซ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’ๆ‹…ใ†ใ€‚ - 2200512 - + + 43 + ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (very-long-chain acyl-CoA dehydrogenase: VLCAD)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œไธŠๅ†…ๅดใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไธ‰้ ญ้…ต็ด ใจใจใจใ‚‚ใซ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’ๆ‹…ใ†ใ€‚ + NANDO:2200512 + Very-long-chain acyl-CoA dehydrogenase deficiency + ใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - + + VLCAD deficiency + VLCADD ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 48 - ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆMCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚ไธญ้Ž–๏ผˆ็‚ญ็ด ๆ•ฐ4ใ€œ10๏ผ‰ใฎ็›ด้Ž–ใฎ่„‚่‚ช้…ธใ‚’ไปฃ่ฌใ™ใ‚‹MCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚3ใ€œ4ๆญณไปฅไธ‹ใฎใ€ๆ€ฅๆ€ง็™บ็—‡ใพใงใฏไฝ•ใ‚‰็‰นๅพด็š„ๆ‰€่ฆ‹ใ‚„ๆ—ขๅพ€ใ‚’ใ‚‚ใŸใชใ„ๅฐๅ…ใŒใ€ๆ„ŸๆŸ“ใ‚„้ฃข้ค“ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜/ใƒฉใ‚คๆง˜็—‡ๅ€™็พคๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ„ใฃใŸใ‚“็™บ็—‡ใ™ใ‚‹ใจๆญปไบก็Ž‡ใŒ้ซ˜ใใ€ไนณๅนผๅ…็ช็„ถๆญป็—‡ๅ€™็พค๏ผˆSIDS๏ผ‰ใฎไธ€ๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚Œใ‚Œใฐใ€้ฃข้ค“ใ‚’้ฟใ‘ใ‚‹้ฃŸไบ‹ๆŒ‡ๅฐŽใงใปใผๅฎŒๅ…จใซ็™บ็—‡ไบˆ้˜ฒใŒใงใใ‚‹ใ€‚ - 2200513 - + + 48 + ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆMCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚ไธญ้Ž–๏ผˆ็‚ญ็ด ๆ•ฐ4ใ€œ10๏ผ‰ใฎ็›ด้Ž–ใฎ่„‚่‚ช้…ธใ‚’ไปฃ่ฌใ™ใ‚‹MCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚3ใ€œ4ๆญณไปฅไธ‹ใฎใ€ๆ€ฅๆ€ง็™บ็—‡ใพใงใฏไฝ•ใ‚‰็‰นๅพด็š„ๆ‰€่ฆ‹ใ‚„ๆ—ขๅพ€ใ‚’ใ‚‚ใŸใชใ„ๅฐๅ…ใŒใ€ๆ„ŸๆŸ“ใ‚„้ฃข้ค“ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜/ใƒฉใ‚คๆง˜็—‡ๅ€™็พคๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ„ใฃใŸใ‚“็™บ็—‡ใ™ใ‚‹ใจๆญปไบก็Ž‡ใŒ้ซ˜ใใ€ไนณๅนผๅ…็ช็„ถๆญป็—‡ๅ€™็พค๏ผˆSIDS๏ผ‰ใฎไธ€ๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚Œใ‚Œใฐใ€้ฃข้ค“ใ‚’้ฟใ‘ใ‚‹้ฃŸไบ‹ๆŒ‡ๅฐŽใงใปใผๅฎŒๅ…จใซ็™บ็—‡ไบˆ้˜ฒใŒใงใใ‚‹ใ€‚ + NANDO:2200513 + Medium-chain acyl-CoA dehydrogenase deficiency + ใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - + + MCAD deficiency ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 47 - ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎฮฒ้…ธๅŒ–ใ‚’่งฆๅช’ใ™ใ‚‹SCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚่ก€ไธญใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4ใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใจๅฐฟไธญใ‚จใƒใƒซใƒžใƒญใƒณ้…ธใฎๅข—ๅŠ ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€œไนณๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใงๆ€ฅๆ€ง็™บ็—‡ใ—ใŸๆœฌ็–พๆ‚ฃๆ‚ฃๅ…ใฎSCADๆฎ‹ๅญ˜้…ต็ด ๆดปๆ€งใฏ40ใ€œ60%ใงใ‚ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ๅ˜็‹ฌใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใฎใงใฏใชใใ€SCAD่›‹็™ฝใฎใƒŸใ‚นใƒ•ใ‚ฉใƒผใƒซใƒ‡ใ‚ฃใƒณใ‚ฐใฎๅฝฑ้Ÿฟใ€ไป–ใฎ้บไผๅ› ๅญใ‚„็’ฐๅขƒๅ› ๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใชใฉใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใงใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็—‡ไพ‹ใงใฏใ€้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚„้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใฆใ‚‚ๅคง้ƒจๅˆ†ใŒ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใŸใ‚ใ€ใ‚ใŒๅ›ฝใงใฏใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚ - 2200514 - + + 47 + ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎฮฒ้…ธๅŒ–ใ‚’่งฆๅช’ใ™ใ‚‹SCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚่ก€ไธญใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4ใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใจๅฐฟไธญใ‚จใƒใƒซใƒžใƒญใƒณ้…ธใฎๅข—ๅŠ ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€œไนณๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใงๆ€ฅๆ€ง็™บ็—‡ใ—ใŸๆœฌ็–พๆ‚ฃๆ‚ฃๅ…ใฎSCADๆฎ‹ๅญ˜้…ต็ด ๆดปๆ€งใฏ40ใ€œ60%ใงใ‚ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ๅ˜็‹ฌใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใฎใงใฏใชใใ€SCAD่›‹็™ฝใฎใƒŸใ‚นใƒ•ใ‚ฉใƒผใƒซใƒ‡ใ‚ฃใƒณใ‚ฐใฎๅฝฑ้Ÿฟใ€ไป–ใฎ้บไผๅ› ๅญใ‚„็’ฐๅขƒๅ› ๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใชใฉใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใงใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็—‡ไพ‹ใงใฏใ€้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚„้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใฆใ‚‚ๅคง้ƒจๅˆ†ใŒ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใŸใ‚ใ€ใ‚ใŒๅ›ฝใงใฏใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚ + NANDO:2200514 + Short-chain acyl-CoA dehydrogenase deficiency + ใŸใ‚“ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - + ็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 44 - ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธ‰้ ญ้…ต็ด ๏ผˆTFP๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ—ใ€ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆVLCAD๏ผ‰ใซๅผ•ใ็ถšใ„ใฆ็‚ญ็ด ้Ž–16ใ€œ12ไป˜่ฟ‘ใฎ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’่กŒใ†ใ€้•ท้Ž–ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆLCEH๏ผ‰ใ€้•ท้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆLCHAD๏ผ‰ใ€้•ท้Ž–3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆLCKT๏ผ‰ใฎ3ใคใฎใƒ‰ใƒกใ‚คใƒณใ‚’ใ‚‚ใค้…ต็ด ่›‹็™ฝใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰3ใคใฎ้…ต็ด ๆดปๆ€งใŒใ™ในใฆๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’TFPๆฌ ๆ็—‡ใ€LCHADๆดปๆ€งใฎใฟๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’LCHADๆฌ ๆ็—‡ใจใ‚ˆใถใ€‚ใ‚ใŒๅ›ฝใงใฏTFPๆฌ ๆ็—‡ใฎๅ ฑๅ‘ŠใŒๅคšใใ€LCHADๆฌ ๆ็—‡ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ - 2200515 - + + 44 + ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธ‰้ ญ้…ต็ด ๏ผˆTFP๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ—ใ€ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆVLCAD๏ผ‰ใซๅผ•ใ็ถšใ„ใฆ็‚ญ็ด ้Ž–16ใ€œ12ไป˜่ฟ‘ใฎ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’่กŒใ†ใ€้•ท้Ž–ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆLCEH๏ผ‰ใ€้•ท้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆLCHAD๏ผ‰ใ€้•ท้Ž–3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆLCKT๏ผ‰ใฎ3ใคใฎใƒ‰ใƒกใ‚คใƒณใ‚’ใ‚‚ใค้…ต็ด ่›‹็™ฝใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰3ใคใฎ้…ต็ด ๆดปๆ€งใŒใ™ในใฆๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’TFPๆฌ ๆ็—‡ใ€LCHADๆดปๆ€งใฎใฟๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’LCHADๆฌ ๆ็—‡ใจใ‚ˆใถใ€‚ใ‚ใŒๅ›ฝใงใฏTFPๆฌ ๆ็—‡ใฎๅ ฑๅ‘ŠใŒๅคšใใ€LCHADๆฌ ๆ็—‡ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ + NANDO:2200515 + Trifunctional protein deficiency + ใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + - + + TFP deficiency + mitochondrial trifunctional protein deficiency ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ - - 45 - ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (3-hydroxy acyl-CoA dehydrogenase ๏ผšHADH)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไป–ใฎฮฒ้…ธๅŒ–้…ต็ด ็พคใจๅ”ๅƒใ—ใฆไธญใƒป็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎไปฃ่ฌใ‚’ๆ‹…ๅฝ“ใ—ใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏ็Ÿญ้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCHAD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใฆใ„ใŸใ€‚HADHๆฌ ๆ็—‡ใฏใ€ไธญ้Ž–ใ€็Ÿญ้Ž–ใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoAใŒ่“„็ฉใ—ใ€่ก€ไธญ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4-OHใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใŒใŠใ‚‚ใซๅข—ๅŠ ใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณๆ€งไฝŽ่ก€็ณ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใฏใ€HADHใŒใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆGDH๏ผ‰ใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚Šใ€HADHๆฌ ๆ็—‡ใงใฏGDHๆดปๆ€งใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใจใชใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ปๅบฆใŒๆฅตใ‚ใฆไฝŽใใ€ๅฝ้™ฝๆ€ง็Ž‡ใŒ็›ธๅฏพ็š„ใซ้ซ˜ใ„ใŸใ‚ใ€็พๅœจใ€ใ‚ใŒๅ›ฝใงใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚ - 2200516 - + + 45 + ็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (3-hydroxy acyl-CoA dehydrogenase ๏ผšHADH)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไป–ใฎฮฒ้…ธๅŒ–้…ต็ด ็พคใจๅ”ๅƒใ—ใฆไธญใƒป็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎไปฃ่ฌใ‚’ๆ‹…ๅฝ“ใ—ใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏ็Ÿญ้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCHAD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใฆใ„ใŸใ€‚HADHๆฌ ๆ็—‡ใฏใ€ไธญ้Ž–ใ€็Ÿญ้Ž–ใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoAใŒ่“„็ฉใ—ใ€่ก€ไธญ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4-OHใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใŒใŠใ‚‚ใซๅข—ๅŠ ใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณๆ€งไฝŽ่ก€็ณ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใฏใ€HADHใŒใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆGDH๏ผ‰ใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚Šใ€HADHๆฌ ๆ็—‡ใงใฏGDHๆดปๆ€งใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใจใชใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ปๅบฆใŒๆฅตใ‚ใฆไฝŽใใ€ๅฝ้™ฝๆ€ง็Ž‡ใŒ็›ธๅฏพ็š„ใซ้ซ˜ใ„ใŸใ‚ใ€็พๅœจใ€ใ‚ใŒๅ›ฝใงใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚ + NANDO:2200516 + 3-hydroxy acyl-CoA dehydrogenase deficiency 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + 3ใฒใฉใ‚ใใ—ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 49 - ่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่„‚่‚ช้…ธฮฒ้…ธๅŒ–ใซใ‚ˆใฃใฆ่„‚่‚ชใ‹ใ‚‰ใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ™้Ž็จ‹ใซ้–ขใ‚ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใ‚„้‹ๅ‹•ๆ™‚ใซใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚Šใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹40ใ€œ48ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่„‚่‚ช้…ธไปฃ่ฌใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200517 - + + 49 + ่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่„‚่‚ช้…ธฮฒ้…ธๅŒ–ใซใ‚ˆใฃใฆ่„‚่‚ชใ‹ใ‚‰ใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ™้Ž็จ‹ใซ้–ขใ‚ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใ‚„้‹ๅ‹•ๆ™‚ใซใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚Šใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹40ใ€œ48ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่„‚่‚ช้…ธไปฃ่ฌใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200517 + + 40ใ‹ใ‚‰48ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใผใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ Other disorders of fatty-acid metabolism - + 40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ - - 88 - ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“๏ผˆPDHC๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ—ใ€ๅซŒๆฐ—ๆ€ง่งฃ็ณ–็ณปใงใƒ–ใƒ‰ใ‚ฆ็ณ–ใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใƒ”ใƒซใƒ“ใƒณ้…ธใ‚’ใ‚ขใ‚ปใƒใƒซ-CoAใซๅค‰ๆ›ใ—ใฆTCAๅ›ž่ทฏใซ้€ใ‚Š่พผใ‚€ใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎใŸใ‚ใซ้žๅธธใซๅคงๅˆ‡ใช้…ต็ด ่ค‡ๅˆไฝ“ใงใ‚ใ‚‹๏ผˆๅ›ณ1๏ผ‰1)ใ€‚ๅพ“ใฃใฆๆœฌๆฌ ๆ็—‡ใงใฏใ‚ขใ‚ปใƒใƒซ-CoAไธ่ถณใซใ‚ˆใ‚ŠTCAใ‚ตใ‚คใ‚ฏใƒซใŒๅ›žใ‚‰ใชใใชใ‚Šใ€ใใฎ็ตๆžœใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใงใฎATP็”ฃ็”ŸใŒไฝŽไธ‹ใ—็ต„็น”ใƒป่‡“ๅ™จใŒใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚‹ใ€‚ใ•ใ‚‰ใซๅŸบ่ณชใงใ‚ใ‚‹ใƒ”ใƒซใƒ“ใƒณ้…ธใŒ่“„็ฉใ—ไนณ้…ธใซ่ปขๆ›ใ•ใ‚Œใ‚‹็ตๆžœใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใŒ็”Ÿใšใ‚‹ใ€‚ใคใพใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใจไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซใ‚ˆใ‚‹็ต„็น”้šœๅฎณใŒๆœฌ็—‡ใฎ็—…ๆ…‹ใงใ‚ใ‚‹2)ใ€‚ - 2200518 - + + 88 + ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“๏ผˆPDHC๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ—ใ€ๅซŒๆฐ—ๆ€ง่งฃ็ณ–็ณปใงใƒ–ใƒ‰ใ‚ฆ็ณ–ใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใƒ”ใƒซใƒ“ใƒณ้…ธใ‚’ใ‚ขใ‚ปใƒใƒซ-CoAใซๅค‰ๆ›ใ—ใฆTCAๅ›ž่ทฏใซ้€ใ‚Š่พผใ‚€ใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎใŸใ‚ใซ้žๅธธใซๅคงๅˆ‡ใช้…ต็ด ่ค‡ๅˆไฝ“ใงใ‚ใ‚‹๏ผˆๅ›ณ1๏ผ‰1)ใ€‚ๅพ“ใฃใฆๆœฌๆฌ ๆ็—‡ใงใฏใ‚ขใ‚ปใƒใƒซ-CoAไธ่ถณใซใ‚ˆใ‚ŠTCAใ‚ตใ‚คใ‚ฏใƒซใŒๅ›žใ‚‰ใชใใชใ‚Šใ€ใใฎ็ตๆžœใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใงใฎATP็”ฃ็”ŸใŒไฝŽไธ‹ใ—็ต„็น”ใƒป่‡“ๅ™จใŒใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚‹ใ€‚ใ•ใ‚‰ใซๅŸบ่ณชใงใ‚ใ‚‹ใƒ”ใƒซใƒ“ใƒณ้…ธใŒ่“„็ฉใ—ไนณ้…ธใซ่ปขๆ›ใ•ใ‚Œใ‚‹็ตๆžœใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใŒ็”Ÿใšใ‚‹ใ€‚ใคใพใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใจไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซใ‚ˆใ‚‹็ต„็น”้šœๅฎณใŒๆœฌ็—‡ใฎ็—…ๆ…‹ใงใ‚ใ‚‹2)ใ€‚ + NANDO:2200518 + Pyruvate dehydrogenase complex deficiency + ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ ใฃใ™ใ„ใใ“ใ†ใใตใใ”ใ†ใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡ - - - + ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡ - - 87 - ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ๆฌ ๆ็—‡ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ™ใ‚‹็ณ–ๆ–ฐ็”Ÿ็ณปใฎๅพ‹้€Ÿ้…ต็ด ใงใ‚ใ‚Šใ€ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ—ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‹ใ‚‰ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’็”Ÿๆˆใ™ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰ใ€‚่‡จๅบŠ็—‡็Šถใ‚’ๅฝขไฝœใ‚‹ใฎใฏใ€ไฝŽ่ก€็ณ–ใจใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธไฝŽๅ€คใŒใ‚‚ใŸใ‚‰ใ™TCAๅ›ž่ทฏใฎไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใ€ใ•ใ‚‰ใซ้‡็—‡ไพ‹ใงใฏใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธ็”ฑๆฅใฎใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใฎไธ่ถณใซใ‚ˆใ‚‹ๅฐฟ็ด ๅ›ž่ทฏไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚‚ๅ•้กŒใซใชใ‚‹1)ใ€‚ - 2200519 - + + 87 + ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ๆฌ ๆ็—‡ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ™ใ‚‹็ณ–ๆ–ฐ็”Ÿ็ณปใฎๅพ‹้€Ÿ้…ต็ด ใงใ‚ใ‚Šใ€ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ—ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‹ใ‚‰ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’็”Ÿๆˆใ™ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰ใ€‚่‡จๅบŠ็—‡็Šถใ‚’ๅฝขไฝœใ‚‹ใฎใฏใ€ไฝŽ่ก€็ณ–ใจใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธไฝŽๅ€คใŒใ‚‚ใŸใ‚‰ใ™TCAๅ›ž่ทฏใฎไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใ€ใ•ใ‚‰ใซ้‡็—‡ไพ‹ใงใฏใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธ็”ฑๆฅใฎใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใฎไธ่ถณใซใ‚ˆใ‚‹ๅฐฟ็ด ๅ›ž่ทฏไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚‚ๅ•้กŒใซใชใ‚‹1)ใ€‚ + NANDO:2200519 + Pyruvate carboxylase deficiency + ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 89 - ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ•ใƒžใƒซ้…ธใ‚’ใƒชใƒณใ‚ด้…ธใซๅค‰ๆ›ใ™ใ‚‹TCAๅ›ž่ทฏใฎไธป่ฆๆง‹ๆˆ้…ต็ด ใงใ‚ใ‚‹ใƒ•ใƒžใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰1)ใ€‚่„ณๅฅ‡ๅฝขใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใฎ้‡็ฏคใชไธญๆžข็ฅž็ตŒ็—‡็Šถใจใ€ใƒ•ใƒžใƒซ้…ธใฎๅฐฟไธญๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 2200520 - + + 89 + ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ•ใƒžใƒซ้…ธใ‚’ใƒชใƒณใ‚ด้…ธใซๅค‰ๆ›ใ™ใ‚‹TCAๅ›ž่ทฏใฎไธป่ฆๆง‹ๆˆ้…ต็ด ใงใ‚ใ‚‹ใƒ•ใƒžใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰1)ใ€‚่„ณๅฅ‡ๅฝขใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใฎ้‡็ฏคใชไธญๆžข็ฅž็ตŒ็—‡็Šถใจใ€ใƒ•ใƒžใƒซ้…ธใฎๅฐฟไธญๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:2200520 + Fumarase deficiency + ใตใพใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 86 - ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผ๏ผˆSUCL๏ผ‰ๆฌ ๆ็—‡ใฏใ€TCAใ‚ตใ‚คใ‚ฏใƒซใฎไธ€ๅ› ใงใ‚‚ใ‚ใ‚‹SUCLใฎๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธใจใƒกใƒใƒซใƒžใƒญใƒณ้…ธใฎๅฐฟไธญใธใฎๅฐ‘้‡ๆŽ’ๆณ„ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ1)ใงใ‚ใ‚Šใ€ๅคใใฏใƒกใƒใƒซใƒžใƒญใƒณ้…ธๅฐฟใ‚’ไผดใ†Leigh่„ณ็—‡ใจใ‚ˆใฐใ‚Œใฆใ„ใŸ็–พ็—…ใงใ‚ใ‚‹ใ€‚ - 2200521 - + + 86 + ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผ๏ผˆSUCL๏ผ‰ๆฌ ๆ็—‡ใฏใ€TCAใ‚ตใ‚คใ‚ฏใƒซใฎไธ€ๅ› ใงใ‚‚ใ‚ใ‚‹SUCLใฎๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธใจใƒกใƒใƒซใƒžใƒญใƒณ้…ธใฎๅฐฟไธญใธใฎๅฐ‘้‡ๆŽ’ๆณ„ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ1)ใงใ‚ใ‚Šใ€ๅคใใฏใƒกใƒใƒซใƒžใƒญใƒณ้…ธๅฐฟใ‚’ไผดใ†Leigh่„ณ็—‡ใจใ‚ˆใฐใ‚Œใฆใ„ใŸ็–พ็—…ใงใ‚ใ‚‹ใ€‚ + NANDO:2200521 + Succinyl-CoA ligase deficiency + ใ™ใใ—ใซใ‚‹ใ“ใˆใƒผใ‚ŠใŒใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡ - + ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡ - - 90 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅฝนๅ‰ฒใฏๅคšๆ•ฐใ‚ใ‚‹ใŒใ€ๆœ€ใ‚‚ๅคงๅˆ‡ใชใฎใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚Šใ€ใใฎๅฝนๅ‰ฒใ‚’ๆ‹…ใ†ใฎใŒๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ใ€ŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“็•ฐๅธธ็—‡๏ผˆMRCD๏ผ‰ใ€ใจ่ชญใฟๆ›ฟใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ใ„ใ‹ใชใ‚‹็—‡็Šถใ€ใ„ใ‹ใชใ‚‹่‡“ๅ™จใƒป็ต„็น”ใ€ใ„ใ‹ใชใ‚‹ๅนด้ฝขใ€ใใ—ใฆใ„ใ‹ใชใ‚‹้บไผๅฝขๅผใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใฎใŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ็ฅž็ตŒใƒป็ญ‹่‚‰ใฎ็—…ๆฐ—ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅฟƒ็ญ‹็—‡ใ€่‚็—‡ใชใฉๅ˜็‹ฌใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ‚‚ๅคšใ„1)ใ€‚ - 2200522 - + + 90 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅฝนๅ‰ฒใฏๅคšๆ•ฐใ‚ใ‚‹ใŒใ€ๆœ€ใ‚‚ๅคงๅˆ‡ใชใฎใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚Šใ€ใใฎๅฝนๅ‰ฒใ‚’ๆ‹…ใ†ใฎใŒๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ใ€ŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“็•ฐๅธธ็—‡๏ผˆMRCD๏ผ‰ใ€ใจ่ชญใฟๆ›ฟใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ใ„ใ‹ใชใ‚‹็—‡็Šถใ€ใ„ใ‹ใชใ‚‹่‡“ๅ™จใƒป็ต„็น”ใ€ใ„ใ‹ใชใ‚‹ๅนด้ฝขใ€ใใ—ใฆใ„ใ‹ใชใ‚‹้บไผๅฝขๅผใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใฎใŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ็ฅž็ตŒใƒป็ญ‹่‚‰ใฎ็—…ๆฐ—ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅฟƒ็ญ‹็—‡ใ€่‚็—‡ใชใฉๅ˜็‹ฌใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ‚‚ๅคšใ„1)ใ€‚ + NANDO:2200522 + Mitochondrial respiratory chain disorders + ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใ“ใใ‚…ใ†ใ•ใตใใ”ใ†ใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡ - + + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡ - - 92 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA๏ผˆmtDNA๏ผ‰้‡ใŒไฝ•ใ‹ใฎๅŽŸๅ› ใงๆธ›ๅฐ‘ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใŒ้˜ปๅฎณใ•ใ‚ŒๆฉŸ่ƒฝ้šœๅฎณใฎ่ตทใ“ใ‚‹็–พๆ‚ฃ็พคใ‚’็ท็งฐใ—ใฆmtDNAๆžฏๆธ‡็—‡ๅ€™็พค๏ผšmitochondrial DNA depletion syndrome (MTDPS)ใจ็งฐใ™ใ‚‹ใ€‚ไธ€ๆฌก็š„็—…ๅ› ใฏๆ ธใซใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚Šใ€ใใฎ็ตๆžœใจใ—ใฆไบŒๆฌก็š„ใซmtDNA้‡ใฎๆžฏๆธ‡ใ‚’ไธญๅฟƒใซใ€ๆ™‚ใซๅคš้‡ๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใฎๆง˜ใช็•ฐๅธธใ‚’ใ‚‚ๆฅใŸใ™็–พๆ‚ฃ็พคใงใ€ๆ ธDNAใจmtDNAใฎใ‚ฒใƒŽใƒ ้–“ใ‚ณใƒŸใƒฅใƒ‹ใ‚ฑใƒผใ‚ทใƒงใƒณใฎ้šœๅฎณ๏ผˆdefects in intergenomic communication๏ผ‰ใจ่จ€ใ†ๆฆ‚ๅฟตใงใจใ‚‰ใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ - 2200523 - + + 92 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA๏ผˆmtDNA๏ผ‰้‡ใŒไฝ•ใ‹ใฎๅŽŸๅ› ใงๆธ›ๅฐ‘ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใŒ้˜ปๅฎณใ•ใ‚ŒๆฉŸ่ƒฝ้šœๅฎณใฎ่ตทใ“ใ‚‹็–พๆ‚ฃ็พคใ‚’็ท็งฐใ—ใฆmtDNAๆžฏๆธ‡็—‡ๅ€™็พค๏ผšmitochondrial DNA depletion syndrome (MTDPS)ใจ็งฐใ™ใ‚‹ใ€‚ไธ€ๆฌก็š„็—…ๅ› ใฏๆ ธใซใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚Šใ€ใใฎ็ตๆžœใจใ—ใฆไบŒๆฌก็š„ใซmtDNA้‡ใฎๆžฏๆธ‡ใ‚’ไธญๅฟƒใซใ€ๆ™‚ใซๅคš้‡ๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใฎๆง˜ใช็•ฐๅธธใ‚’ใ‚‚ๆฅใŸใ™็–พๆ‚ฃ็พคใงใ€ๆ ธDNAใจmtDNAใฎใ‚ฒใƒŽใƒ ้–“ใ‚ณใƒŸใƒฅใƒ‹ใ‚ฑใƒผใ‚ทใƒงใƒณใฎ้šœๅฎณ๏ผˆdefects in intergenomic communication๏ผ‰ใจ่จ€ใ†ๆฆ‚ๅฟตใงใจใ‚‰ใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ + NANDO:2200523 + Mitochondrial DNA depletion syndrome + ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใ“ใ‹ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค + - + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค - - 93 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚ - 2200524 - + + 93 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚ + NANDO:2200524 + Diseases due to mitochondrial DNA mutation + ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใจใคใœใ‚“ใธใ‚“ใ„ ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ - + + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ - - 93 - 2200525 - + + 93 + NANDO:2200525 + MELAS mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) + ใ‚ใ‚‰ใ™ - - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ + + MELAS + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค MELAS - - 93 - 2200526 - - MERRF + + 93 + NANDO:2200526 + Myoclonus epilepsy associated with ragged-red fibers + ใ›ใใ—ใ‚‡ใใผใ‚ใ›ใ‚“ใ„ใƒปใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค + - - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ - MERRF + + MERRF + MERRF + + ่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค - - 93 - 2200527 - - Leigh disease + + 93 + NANDO:2200527 + + Leigh syndrome + ใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒชใƒผ็—‡ๅ€™็พค - + + Leigh็—‡ๅ€™็พค ใƒชใƒผ็—‡ๅ€™็พค - - 91 - ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚ - 2200528 - + + 91 + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚ + NANDO:2200528 + Diseases due to mitochondrial DNA deletion + ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใ‘ใฃใ—ใค ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ - + + ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ - - 91 - 2200529 - - Kearns-Sayreย syndrome + + 91 + NANDO:2200529 + + Kearns-Sayre syndrome + ใ‹ใƒผใ‚“ใšใƒปใ›ใ„ใ‚„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค + - + ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค - - 94 - ไธ€ใคใฎ็ดฐ่ƒžใซๆ•ฐ็™พๅ€‹ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใŒๅ…ฅใฃใฆใ„ใฆใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏ็ดฐ่ƒžใซๅฟ…่ฆใชใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใจ็ดฐ่ƒžใฎๅƒใใŒๆ‚ชใใชใ‚Šใ€ใ•ใพใ–ใพใช็—‡็ŠถใŒ็พใ‚Œใ‚‹ใ€‚ไฝ“ใฎใฉใ“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ‹ใซใ‚ˆใฃใฆ็—‡็Šถใฏ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹50ใ€œ57ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนดๆ–ฐ่ฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใŒๆฌกใ€…ใซ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใฎใ‚‚ไบ‹ๅฎŸใงใ‚ใ‚‹ใ€‚ - 2200530 - + + 94 + ไธ€ใคใฎ็ดฐ่ƒžใซๆ•ฐ็™พๅ€‹ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใŒๅ…ฅใฃใฆใ„ใฆใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏ็ดฐ่ƒžใซๅฟ…่ฆใชใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใจ็ดฐ่ƒžใฎๅƒใใŒๆ‚ชใใชใ‚Šใ€ใ•ใพใ–ใพใช็—‡็ŠถใŒ็พใ‚Œใ‚‹ใ€‚ไฝ“ใฎใฉใ“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ‹ใซใ‚ˆใฃใฆ็—‡็Šถใฏ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹50ใ€œ57ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนดๆ–ฐ่ฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใŒๆฌกใ€…ใซ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใฎใ‚‚ไบ‹ๅฎŸใงใ‚ใ‚‹ใ€‚ + NANDO:2200530 + + 50ใ‹ใ‚‰57ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ† 50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… Other mitochondrial diseases - + 50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—… - - 58 - ๆžœ็ณ–ใƒป่”—็ณ–็ญ‰ใ‚’ๅซใ‚€้ฃŸๅ“ๆ‘‚ๅ–ๅพŒใ€็Ÿญๆ™‚้–“ใงๅ‡บ็พใ™ใ‚‹ไฝŽ่ก€็ณ–ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ๏ผˆOMIM #22960๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏ้›ขไนณ้ฃŸๅฐŽๅ…ฅ้ ƒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‚่…Ž็ต„็น”้šœๅฎณใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ—ใฆ่‡ดๆญป็š„ใจใชใ‚Šใ†ใ‚‹ใŒใ€ๅŽŸๅ› ็ณ–่ณชใฎ้™คๅŽป้ฃŸใซใ‚ˆใฃใฆ่ปฝๅฟซใ™ใ‚‹ใ€‚ - 2200531 - + + 58 + ๆžœ็ณ–ใƒป่”—็ณ–็ญ‰ใ‚’ๅซใ‚€้ฃŸๅ“ๆ‘‚ๅ–ๅพŒใ€็Ÿญๆ™‚้–“ใงๅ‡บ็พใ™ใ‚‹ไฝŽ่ก€็ณ–ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ๏ผˆOMIM #22960๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏ้›ขไนณ้ฃŸๅฐŽๅ…ฅ้ ƒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‚่…Ž็ต„็น”้šœๅฎณใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ—ใฆ่‡ดๆญป็š„ใจใชใ‚Šใ†ใ‚‹ใŒใ€ๅŽŸๅ› ็ณ–่ณชใฎ้™คๅŽป้ฃŸใซใ‚ˆใฃใฆ่ปฝๅฟซใ™ใ‚‹ใ€‚ + NANDO:2200531 + Hereditary fructose intolerance + ใ„ใงใ‚“ใ›ใ„ใตใ‚‹ใใจใƒผใ™ใตใŸใ„ใ—ใ‚‡ใ† ้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡ - + HFI ้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡ - - 60 - ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใงใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใŒ็”Ÿใ˜ใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜็จฎใ€…ใฎ้šœๅฎณใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚ - 2200532 - + + 60 + ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใงใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใŒ็”Ÿใ˜ใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜็จฎใ€…ใฎ้šœๅฎณใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚ + NANDO:2200532 + Galactose-1-phosphate uridyltransferase deficiency + ใŒใ‚‰ใใจใƒผใ™1ใ‚Šใ‚“ใ•ใ‚“ใ†ใ‚Šใ˜ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + - - + ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 61 - ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฎ่“„็ฉใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚ - 2200533 - + + 61 + ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฎ่“„็ฉใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚ + NANDO:2200533 + Galactokinase deficiency + ใŒใ‚‰ใใจใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - + ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - - 59 - ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š็”Ÿๆˆใ—ใŸ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผฅ๏ผ‰ใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-๏ผ”-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚ŒใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹ใŒใ€ๅคšใใฏๅ…จ่บซ็—‡็Šถใ‚’็คบใ•ใชใ„้ƒจๅˆ†ๅž‹ใงไบˆๅพŒ่‰ฏๅฅฝใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚ - 2200534 - + + 59 + ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š็”Ÿๆˆใ—ใŸ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผฅ๏ผ‰ใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-๏ผ”-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚ŒใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹ใŒใ€ๅคšใใฏๅ…จ่บซ็—‡็Šถใ‚’็คบใ•ใชใ„้ƒจๅˆ†ๅž‹ใงไบˆๅพŒ่‰ฏๅฅฝใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚ + NANDO:2200534 + UDP-galactose-4-epimerase deficiency + ใ†ใ‚Šใ˜ใ‚‹ใซใ‚Šใ‚“ใ•ใ‚“ใŒใ‚‰ใใจใƒผใ™4ใˆใดใ‚ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 71 - ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆFBPase๏ผ‰ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ใฎ็ณ–ๆ–ฐ็”ŸใซใŠใ„ใฆใ€ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ไบŒใƒชใƒณ้…ธใ‹ใ‚‰ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-6-ใƒชใƒณ้…ธใธใฎๅค‰ๆ›ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚FBPaseๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿๅข—ๅŠ ใ‚’ใใŸใ™ใ€‚ - 2200535 - + + 71 + ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆFBPase๏ผ‰ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ใฎ็ณ–ๆ–ฐ็”ŸใซใŠใ„ใฆใ€ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ไบŒใƒชใƒณ้…ธใ‹ใ‚‰ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-6-ใƒชใƒณ้…ธใธใฎๅค‰ๆ›ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚FBPaseๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿๅข—ๅŠ ใ‚’ใใŸใ™ใ€‚ + NANDO:2200535 + Fructose-1,6-bisphosphatase deficiency + ใตใ‚‹ใใจใƒผใ™1,6ใณใ™ใปใ™ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - + ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - - 72 - ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผ๏ผˆPEPCK๏ผ‰ใฏใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใธใจๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขPEPCK ใจ็ดฐ่ƒž่ณชPEPCKใฎ2ใคใฎใ‚ขใ‚คใ‚ฝใ‚ถใ‚คใƒ ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚PEPCKๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ไนณ้…ธใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใฎ็ณ–ๆ–ฐ็”Ÿ็ณปใซใŠใ‘ใ‚‹ๅˆฉ็”จใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ‚’ๆฅใ—ใ€ๅคš่‡“ๅ™จใฎ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200536 - + + 72 + ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผ๏ผˆPEPCK๏ผ‰ใฏใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใธใจๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขPEPCK ใจ็ดฐ่ƒž่ณชPEPCKใฎ2ใคใฎใ‚ขใ‚คใ‚ฝใ‚ถใ‚คใƒ ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚PEPCKๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ไนณ้…ธใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใฎ็ณ–ๆ–ฐ็”Ÿ็ณปใซใŠใ‘ใ‚‹ๅˆฉ็”จใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ‚’ๆฅใ—ใ€ๅคš่‡“ๅ™จใฎ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200536 + Phosphoenolpyruvate carboxykinase deficiency + ใปใ™ใปใˆใฎใƒผใ‚‹ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ‹ใ‚‹ใผใใ—ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - - - + ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - - 62 - ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0ๅž‹๏ผ‰ใฏใ€UDP-ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’ๅŸบ่ณชใจใ—ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1,4็ตๅˆใซใ‚ฐใƒซใ‚ณใƒผใ‚นๅˆ†ๅญใ‚’ไป˜ๅŠ ใ—ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้Ž–ใ‚’ไผธ้•ทใ™ใ‚‹้…ต็ด ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€็ต„็น”ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒๆฌ ๆใ‚‚ใ—ใใฏ่‘—ใ—ใไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0aๅž‹๏ผ‰ใจ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0bๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ - 2200537 - + + 62 + ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0ๅž‹๏ผ‰ใฏใ€UDP-ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’ๅŸบ่ณชใจใ—ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1,4็ตๅˆใซใ‚ฐใƒซใ‚ณใƒผใ‚นๅˆ†ๅญใ‚’ไป˜ๅŠ ใ—ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้Ž–ใ‚’ไผธ้•ทใ™ใ‚‹้…ต็ด ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€็ต„็น”ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒๆฌ ๆใ‚‚ใ—ใใฏ่‘—ใ—ใไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0aๅž‹๏ผ‰ใจ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0bๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200537 + Glycogen synthase deficiency + ใใ‚Šใ“ใƒผใ’ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - + ็ณ–ๅŽŸ็—…0ๅž‹ ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ - - 64 - ็ณ–ๅŽŸ็—…Iๅž‹ใฏใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธใ‚’ๅŠ ๆฐดๅˆ†่งฃใ—ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’็”Ÿๆˆใ€่ผธ้€ใ™ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆG6Pase๏ผ‰ๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ€Iaๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ–-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใจIbๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ ใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡)ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใ€่…Ž่‡“ใ€่…ธ็ฎกใซๅคš้‡ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ไฝŽ่ก€็ณ–ใจ่‚่…ซๅคงใŒๅ‡บ็พใ™ใ‚‹ใ€‚ - 2200538 - + + 64 + ็ณ–ๅŽŸ็—…Iๅž‹ใฏใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธใ‚’ๅŠ ๆฐดๅˆ†่งฃใ—ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’็”Ÿๆˆใ€่ผธ้€ใ™ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆG6Pase๏ผ‰ๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ€Iaๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ–-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใจIbๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ ใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡)ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใ€่…Ž่‡“ใ€่…ธ็ฎกใซๅคš้‡ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ไฝŽ่ก€็ณ–ใจ่‚่…ซๅคงใŒๅ‡บ็พใ™ใ‚‹ใ€‚ + NANDO:2200538 + Glycogen storage disease type I - ็ณ–ๅŽŸ็—…โ… ๅž‹ - + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใŒใŸ + ็ณ–ๅŽŸ็—…Iๅž‹ - + - - ็ณ–ๅŽŸ็—…โ… ๅž‹ + ็ณ–ๅŽŸ็—…Iๅž‹ - - 65 - ็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆCori็—…๏ผ‰ใฏใ€ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ (4-ฮฑ-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ) ๆดปๆ€งใจใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆใ‚ขใƒŸใƒญ-ฮฑ-1,6-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ใฎๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้™็•Œใƒ‡ใ‚ญใ‚นใƒˆใƒชใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚ๆฌ ๆๆดปๆ€งใฎ็จฎ้กžใจ็ฝนๆ‚ฃ่‡“ๅ™จใซใ‚ˆใ‚Šโ‘ IIIaๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰โ‘กIIIbๅž‹๏ผˆ่‚ๅž‹๏ผ‰โ‘ขIIIdๅž‹ใ€€๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200539 - + + 65 + ็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆCori็—…๏ผ‰ใฏใ€ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ (4-ฮฑ-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ) ๆดปๆ€งใจใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆใ‚ขใƒŸใƒญ-ฮฑ-1,6-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ใฎๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้™็•Œใƒ‡ใ‚ญใ‚นใƒˆใƒชใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚ๆฌ ๆๆดปๆ€งใฎ็จฎ้กžใจ็ฝนๆ‚ฃ่‡“ๅ™จใซใ‚ˆใ‚Šโ‘ IIIaๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰โ‘กIIIbๅž‹๏ผˆ่‚ๅž‹๏ผ‰โ‘ขIIIdๅž‹ใ€€๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200539 + Glycogen storage disease type III - ็ณ–ๅŽŸ็—…โ…ขๅž‹ + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ + ็ณ–ๅŽŸ็—…IIIๅž‹ - + + Cori disease + Cori็—… - ็ณ–ๅŽŸ็—…โ…ขๅž‹ + ็ณ–ๅŽŸ็—…IIIๅž‹ - - 66 - ็ณ–ๅŽŸ็—…IVๅž‹ใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆ†ๆž้Ž–้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซๅˆ†ๆž้Ž–ใฎๅฐ‘ใชใ„ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒณๆง˜ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚่‚่„พ่…ซใ€็ญ‹ๅŠ›ไฝŽไธ‹ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚่‚่‡“ใ‚„็ญ‹ใฎ็ต„็น”็—…็†ใงใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใซ่‡ณใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‡จๅบŠ็—…ๅž‹ใซใฏโ‘ ่‚ๅž‹๏ผˆ้‡็—‡่‚็กฌๅค‰ๅž‹๏ผ‰โ‘ก้ž้€ฒ่กŒๆ€ง่‚ๅž‹ใ€€โ‘ข่‡ดๆญปๆ–ฐ็”Ÿๅ…็ฅž็ตŒใƒป็ญ‹ๅž‹ใ€€โ‘ฃๅนผๅ…็ญ‹ใƒป่‚ๅž‹ใ€€โ‘คๆˆไบบๅž‹๏ผˆใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…๏ผ‰ใŒใ‚ใ‚‹ใ€‚ - 2200540 - + + 66 + ็ณ–ๅŽŸ็—…IVๅž‹ใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆ†ๆž้Ž–้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซๅˆ†ๆž้Ž–ใฎๅฐ‘ใชใ„ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒณๆง˜ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚่‚่„พ่…ซใ€็ญ‹ๅŠ›ไฝŽไธ‹ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚่‚่‡“ใ‚„็ญ‹ใฎ็ต„็น”็—…็†ใงใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใซ่‡ณใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‡จๅบŠ็—…ๅž‹ใซใฏโ‘ ่‚ๅž‹๏ผˆ้‡็—‡่‚็กฌๅค‰ๅž‹๏ผ‰โ‘ก้ž้€ฒ่กŒๆ€ง่‚ๅž‹ใ€€โ‘ข่‡ดๆญปๆ–ฐ็”Ÿๅ…็ฅž็ตŒใƒป็ญ‹ๅž‹ใ€€โ‘ฃๅนผๅ…็ญ‹ใƒป่‚ๅž‹ใ€€โ‘คๆˆไบบๅž‹๏ผˆใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…๏ผ‰ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200540 + Glycogen storage disease type IV - ็ณ–ๅŽŸ็—…โ…ฃๅž‹ + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ + ็ณ–ๅŽŸ็—…IVๅž‹ - + - ็ณ–ๅŽŸ็—…โ…ฃๅž‹ + ็ณ–ๅŽŸ็—…IVๅž‹ - - 67 - ็ณ–ๅŽŸ็—…Vๅž‹๏ผˆMcArdle็—…๏ผ‰ใฏ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200541 - + + 67 + ็ณ–ๅŽŸ็—…Vๅž‹๏ผˆMcArdle็—…๏ผ‰ใฏ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200541 + Glycogen storage disease type V - ็ณ–ๅŽŸ็—…โ…คๅž‹ + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†5ใŒใŸ + ็ณ–ๅŽŸ็—…Vๅž‹ - + - ็ณ–ๅŽŸ็—…โ…คๅž‹ + ็ณ–ๅŽŸ็—…Vๅž‹ - - 68 - ็ณ–ๅŽŸ็—…VIๅž‹ใฏ่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚็ต„็น”ใงใฎๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใŒ้šœๅฎณใ•ใ‚Œใ€่‚่…ซๅคงใ‚„ไฝŽ่ก€็ณ–ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200542 - + + 68 + ็ณ–ๅŽŸ็—…VIๅž‹ใฏ่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚็ต„็น”ใงใฎๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใŒ้šœๅฎณใ•ใ‚Œใ€่‚่…ซๅคงใ‚„ไฝŽ่ก€็ณ–ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200542 + Glycogen storage disease type VI - ็ณ–ๅŽŸ็—…โ…ฅๅž‹ + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†6ใŒใŸ + ็ณ–ๅŽŸ็—…VIๅž‹ - + + ใƒใƒผใ‚น็—… - ็ณ–ๅŽŸ็—…โ…ฅๅž‹ + ็ณ–ๅŽŸ็—…VIๅž‹ - - 69 - ็ณ–ๅŽŸ็—…VIIๅž‹๏ผˆTarui็—…๏ผ‰ใฏ็ญ‹ใƒ›ใ‚นใƒ›ใƒ•ใƒซใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€1965ๅนดใซๅž‚ไบ•ใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๆบถ่ก€ใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200543 - + + 69 + ็ณ–ๅŽŸ็—…VIIๅž‹๏ผˆTarui็—…๏ผ‰ใฏ็ญ‹ใƒ›ใ‚นใƒ›ใƒ•ใƒซใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€1965ๅนดใซๅž‚ไบ•ใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๆบถ่ก€ใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200543 + Glycogen storage disease type VII - ็ณ–ๅŽŸ็—…โ…ฆๅž‹ + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†7ใŒใŸ + ็ณ–ๅŽŸ็—…VIIๅž‹ - + - ็ณ–ๅŽŸ็—…โ…ฆๅž‹ + ็ณ–ๅŽŸ็—…VIIๅž‹ - - 70 - ็ณ–ๅŽŸ็—…IXๅž‹ใฏๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚’b๏ผˆ้žๆดปๆ€งๅž‹๏ผ‰ใ‹ใ‚‰a(ๆดปๆ€งๅž‹)ใซๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใ€ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚ญใƒŠใƒผใ‚ผใฎๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’็”Ÿใ˜ใ‚‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใจ็™บ็พ่‡“ๅ™จใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ๅฐ‘ใชใใจใ‚‚๏ผ”ใคใฎ็—…ๅž‹ใŒ็Ÿฅใ‚‰ใ‚Œใ€‚X้€ฃ้Ž–ๆ€ง่‚ๅž‹ใฎIXaๅž‹๏ผˆๅˆฅๅX้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…ใ€X-linked liver glycogenosis;ใ€€XLG๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ - 2200544 - + + 70 + ็ณ–ๅŽŸ็—…IXๅž‹ใฏๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚’b๏ผˆ้žๆดปๆ€งๅž‹๏ผ‰ใ‹ใ‚‰a(ๆดปๆ€งๅž‹)ใซๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใ€ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚ญใƒŠใƒผใ‚ผใฎๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’็”Ÿใ˜ใ‚‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใจ็™บ็พ่‡“ๅ™จใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ๅฐ‘ใชใใจใ‚‚๏ผ”ใคใฎ็—…ๅž‹ใŒ็Ÿฅใ‚‰ใ‚Œใ€‚X้€ฃ้Ž–ๆ€ง่‚ๅž‹ใฎIXaๅž‹๏ผˆๅˆฅๅX้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…ใ€X-linked liver glycogenosis;ใ€€XLG๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ + NANDO:2200544 + Glycogen storage disease type IX - ็ณ–ๅŽŸ็—…โ…จๅž‹ + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใŒใŸ + ็ณ–ๅŽŸ็—…IXๅž‹ - + - ็ณ–ๅŽŸ็—…โ…จๅž‹ + ็ณ–ๅŽŸ็—…IXๅž‹ - - 63 - ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ (GLUT1) ๆฌ ๆ็—‡ใฏSLC2A1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š่ก€ๆถฒ่„ณ้–ข้–€ใ‹ใ‚‰่„ณๅ†…ใธใฎใ‚ฐใƒซใ‚ณใƒผใ‚นใฎๅ–ใ‚Š่พผใฟใŒ้šœๅฎณใ•ใ‚Œใ€ไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟใ€ไธ้šๆ„้‹ๅ‹•ใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้ซ„ๆถฒ็ณ–ใฎๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ - 2200545 - + + 63 + ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ (GLUT1) ๆฌ ๆ็—‡ใฏSLC2A1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š่ก€ๆถฒ่„ณ้–ข้–€ใ‹ใ‚‰่„ณๅ†…ใธใฎใ‚ฐใƒซใ‚ณใƒผใ‚นใฎๅ–ใ‚Š่พผใฟใŒ้šœๅฎณใ•ใ‚Œใ€ไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟใ€ไธ้šๆ„้‹ๅ‹•ใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้ซ„ๆถฒ็ณ–ใฎๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ + NANDO:2200545 + Glucose transporter 1 deficiency + ใใ‚‹ใ“ใƒผใ™ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡ + - - + GLUT1ๆฌ ๆ็—‡ ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡ - - 73 - ็ณ–่ณชใฏ้ฃŸๅ“ใจใ—ใฆๆ‘‚ๅ–ใ•ใ‚Œใ‚‹ใจใ€ๅธๅŽใ€ๅˆ†่งฃใŒ่กŒใ‚ใ‚Œใ€ๅ˜็ณ–้กžใจใชใฃใฆไฝ“ใฎใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใฆไฝฟใ‚ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซๅ˜็ณ–้กžใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใซๅˆๆˆใ•ใ‚Œใ€ไฝ“ๅ†…ใซ่ฒฏ็•™ใ•ใ‚Œใ‚‹ใ€‚็ฉบ่…นๆ™‚ใซใฏใใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ๅˆ†่งฃใ—ใฆใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใ€็ณ–ใฎๆ–ฐ็”Ÿใ‚‚่กŒใฃใฆใ„ใ‚‹ใ€‚็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใ‚Œใ‚‰ใฎ้Ž็จ‹ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใฎไฝŽ่ก€็ณ–ใ‚„้ซ˜ไนณ้…ธ่ก€็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹59ใ€œ73ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ณ–ไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200546 - + + 73 + ็ณ–่ณชใฏ้ฃŸๅ“ใจใ—ใฆๆ‘‚ๅ–ใ•ใ‚Œใ‚‹ใจใ€ๅธๅŽใ€ๅˆ†่งฃใŒ่กŒใ‚ใ‚Œใ€ๅ˜็ณ–้กžใจใชใฃใฆไฝ“ใฎใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใฆไฝฟใ‚ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซๅ˜็ณ–้กžใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใซๅˆๆˆใ•ใ‚Œใ€ไฝ“ๅ†…ใซ่ฒฏ็•™ใ•ใ‚Œใ‚‹ใ€‚็ฉบ่…นๆ™‚ใซใฏใใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ๅˆ†่งฃใ—ใฆใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใ€็ณ–ใฎๆ–ฐ็”Ÿใ‚‚่กŒใฃใฆใ„ใ‚‹ใ€‚็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใ‚Œใ‚‰ใฎ้Ž็จ‹ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใฎไฝŽ่ก€็ณ–ใ‚„้ซ˜ไนณ้…ธ่ก€็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹59ใ€œ73ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ณ–ไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200546 + + 59ใ‹ใ‚‰73ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใจใ†ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ Other disorders of carbohydrate metabolism - + 59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ - - 130 - ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-iduronidase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200547 - - Mucopolysaccharidosis - ใƒ ใ‚ณๅคš็ณ–็—‡โ… ๅž‹ + + 130 + ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-iduronidase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200547 + + Mucopolysaccharidosis type I + ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†1ใŒใŸ + ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ - - - ใƒ ใ‚ณๅคš็ณ–็—‡โ… ๅž‹ - - - 131 - ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹Iduronate-2-sulfatase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200548 - - Mucopolysaccharidosis - ใƒ ใ‚ณๅคš็ณ–็—‡โ…กๅž‹ + + Hurler-Scheie็—‡ๅ€™็พค + MPS I + + ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ + + + 131 + ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹Iduronate-2-sulfatase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200548 + + Mucopolysaccharidosis type II + ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ + ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + - - - ใƒ ใ‚ณๅคš็ณ–็—‡โ…กๅž‹ - - - 132 - ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ ใ‚ณๅคš็ณ–็—‡๏ผฉๅž‹ใ‚„โ…กๅž‹ใจๆฏ”ในใฆ้ชจใฎ้šœๅฎณใŒๅฐ‘ใชใ็Ÿฅ็š„้šœๅฎณใฏ้‡ใ„ใ€‚่ปฝๅบฆใฎ่‚่‡“่…ซๅคงใŒใ‚ใ‚Šใ€่ง’่†œๆททๆฟใฏใชใ„ใ€‚ๅฐฟไธญใซใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธใŒๅ‡บใฆใ„ใ‚‹ใŒใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚ - 2200549 - - Mucopolysaccharidosis - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ขๅž‹ + + Hunter syndrome + Hunter็—‡ๅ€™็พค + MPS II + + ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + + + 132 + ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ ใ‚ณๅคš็ณ–็—‡๏ผฉๅž‹ใ‚„โ…กๅž‹ใจๆฏ”ในใฆ้ชจใฎ้šœๅฎณใŒๅฐ‘ใชใ็Ÿฅ็š„้šœๅฎณใฏ้‡ใ„ใ€‚่ปฝๅบฆใฎ่‚่‡“่…ซๅคงใŒใ‚ใ‚Šใ€่ง’่†œๆททๆฟใฏใชใ„ใ€‚ๅฐฟไธญใซใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธใŒๅ‡บใฆใ„ใ‚‹ใŒใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚ + NANDO:2200549 + + Mucopolysaccharidosis type III + ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ + ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + - - - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ขๅž‹ - - - 133 - Morquio ็—‡ๅ€™็พค๏ผˆใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹๏ผ‰ใฏใ€็Ÿญ่ƒดๆ€งไฝŽ่บซ้•ทใ€X่„šใ€ๆ‰‹้–ข็ฏ€ๅผ›็ทฉใ€่ง’่†œๆททๆฟใ€ๅผ่†œ็—‡ใ€ๅฐฟไธญใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผˆKS๏ผ‰ใƒปใ‚ณใƒณใƒ‰ใƒญใ‚คใƒใƒณ็กซ้…ธ๏ผˆCS๏ผ‰ใฎๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏN-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณ-6-็กซ้…ธใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆGALNS๏ผ‰ใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Aๅž‹ใจใ€ฮฒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Bๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€Aๅž‹ใŒๅคงๅŠใ‚’ๅ ใ‚ใ‚‹ใ€‚GALNSใฎๆฌ ๆใซใ‚ˆใ‚ŠKSใจCSใฎๅˆ†่งฃใŒ้˜ปๅฎณใ•ใ‚Œใ€้ชจใ‚„่ง’่†œใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ - 2200550 - - Mucopolysaccharidosis - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฃๅž‹ + + MPS III + Sanfilippo syndrome + Sanfilippo็—‡ๅ€™็พค + + ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + 133 + Morquio ็—‡ๅ€™็พค๏ผˆใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹๏ผ‰ใฏใ€็Ÿญ่ƒดๆ€งไฝŽ่บซ้•ทใ€X่„šใ€ๆ‰‹้–ข็ฏ€ๅผ›็ทฉใ€่ง’่†œๆททๆฟใ€ๅผ่†œ็—‡ใ€ๅฐฟไธญใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผˆKS๏ผ‰ใƒปใ‚ณใƒณใƒ‰ใƒญใ‚คใƒใƒณ็กซ้…ธ๏ผˆCS๏ผ‰ใฎๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏN-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณ-6-็กซ้…ธใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆGALNS๏ผ‰ใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Aๅž‹ใจใ€ฮฒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Bๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€Aๅž‹ใŒๅคงๅŠใ‚’ๅ ใ‚ใ‚‹ใ€‚GALNSใฎๆฌ ๆใซใ‚ˆใ‚ŠKSใจCSใฎๅˆ†่งฃใŒ้˜ปๅฎณใ•ใ‚Œใ€้ชจใ‚„่ง’่†œใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ + NANDO:2200550 + + Mucopolysaccharidosis type IV + ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ + ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + - - - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฃๅž‹ - - - 134 - N-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณโ€•4๏ผใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผB๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซ่ตทๅ› ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฏใ€ๆˆ้•ท้šœๅฎณใ€้ชจ้–ข็ฏ€็—‡็Šถใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€่ง’่†œๆททๆฟใชใฉใ‚’ๅ‘ˆใ—๏ผŒใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹๏ผˆใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ใจ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€็Ÿฅ็š„้šœๅฎณใฏไผดใ‚ใชใ„ใ€‚่บซไฝ“ๆ‰€่ฆ‹ใ€็™บ็—‡ๆ™‚ๆœŸใ€็—‡็Šถใฎ้€ฒ่กŒ้€Ÿๅบฆใซใ‚ˆใ‚Š้‡็—‡ๅž‹ใƒปไธญ้–“ๅž‹ใƒป่ปฝ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€็—…ๅž‹ใฎๅขƒ็•Œใฏไธ้ฎฎๆ˜Žใงๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’็คบใ™ใ€‚ - 2200551 - - Mucopolysaccharidosis - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฅๅž‹ + + MPS IV + Morquio disease + Morquio็—‡ๅ€™็พค + + ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + + + 134 + N-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณโ€•4๏ผใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผB๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซ่ตทๅ› ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฏใ€ๆˆ้•ท้šœๅฎณใ€้ชจ้–ข็ฏ€็—‡็Šถใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€่ง’่†œๆททๆฟใชใฉใ‚’ๅ‘ˆใ—๏ผŒใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹๏ผˆใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ใจ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€็Ÿฅ็š„้šœๅฎณใฏไผดใ‚ใชใ„ใ€‚่บซไฝ“ๆ‰€่ฆ‹ใ€็™บ็—‡ๆ™‚ๆœŸใ€็—‡็Šถใฎ้€ฒ่กŒ้€Ÿๅบฆใซใ‚ˆใ‚Š้‡็—‡ๅž‹ใƒปไธญ้–“ๅž‹ใƒป่ปฝ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€็—…ๅž‹ใฎๅขƒ็•Œใฏไธ้ฎฎๆ˜Žใงๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’็คบใ™ใ€‚ + NANDO:2200551 + + Mucopolysaccharidosis type VI + ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ + ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + - - - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฅๅž‹ - - - 135 - ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ใฏใ€ไฝŽ่บซ้•ทใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่ƒŽๅ…ๆฐด่…ซใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’็คบใ™ใ€‚้ ปๅบฆใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅญ˜ๅœจใ™ใ‚‹ฮฒ-ใ‚ฐใƒซใ‚ฏใƒญใƒ‹ใƒ€ใƒผใ‚ผ้…ต็ด ๆดปๆ€งใŒๆฌ ๆใ™ใ‚‹ใŸใ‚ใ€ใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธใ‚’้™คใใ™ในใฆใฎใƒ ใ‚ณๅคš็ณ–ใฎๅˆ†่งฃใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200552 - - Mucopolysaccharidosis - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฆๅž‹ + + MPS VI + Maroteaux-Lamy disease + Maroteaux-Lamy syndrome + Maroteaux-Lamy็—‡ๅ€™็พค + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—… + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค + + ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + 135 + ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ใฏใ€ไฝŽ่บซ้•ทใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่ƒŽๅ…ๆฐด่…ซใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’็คบใ™ใ€‚้ ปๅบฆใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅญ˜ๅœจใ™ใ‚‹ฮฒ-ใ‚ฐใƒซใ‚ฏใƒญใƒ‹ใƒ€ใƒผใ‚ผ้…ต็ด ๆดปๆ€งใŒๆฌ ๆใ™ใ‚‹ใŸใ‚ใ€ใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธใ‚’้™คใใ™ในใฆใฎใƒ ใ‚ณๅคš็ณ–ใฎๅˆ†่งฃใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200552 + + Mucopolysaccharidosis type VII + ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ + ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + - - - ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฆๅž‹ - - - 126 - ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-ใƒ•ใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆEC3.2.1.51๏ผ‰ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒ•ใ‚ณใƒผใ‚นใ‚’ๅซใ‚€ๅ„็จฎใฎ็ณ–่›‹็™ฝ่ณชใ€็ณ–่„‚่ณชใŒๅ…จ่บซใฎ็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฎไธญใงใ‚‚็‰นใซ้ ปๅบฆใŒไฝŽใใ€ๆ‚ฃ่€…ใฏๅ…จไธ–็•Œใซๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใŒ็™พๆ•ฐๅไพ‹ใฎๅ ฑๅ‘Šใซใ™ใŽใชใ„ใ€‚่‡จๅบŠ็š„ใซ2็จฎ้กžใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไนณๅนผๅ…ๆœŸใซ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใง็™บ็—‡ใ—้€ฒ่กŒใŒๆ—ฉใใ€ๆฑ—ใฎNaClๆฟƒๅบฆใฎไธŠๆ˜‡ใ‚’็‰นๅพดใจใ™ใ‚‹้‡็—‡ๅž‹ใงใ‚ใ‚‹Iๅž‹ใจใ€1โˆ’2ๆญณใง็™บ็—‡ใ—้€ฒ่กŒใŒ้…ใ่ขซ่ง’่ก€็ฎก่…ซ๏ผˆangiokeratoma corporis diffusum๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹่ปฝ็—‡ใฎIIๅž‹ใงใ‚ใ‚‹ใ€‚ - 2200553 - + + MPS VII + Sly disease + Sly็—… + + ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + 126 + ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-ใƒ•ใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆEC3.2.1.51๏ผ‰ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒ•ใ‚ณใƒผใ‚นใ‚’ๅซใ‚€ๅ„็จฎใฎ็ณ–่›‹็™ฝ่ณชใ€็ณ–่„‚่ณชใŒๅ…จ่บซใฎ็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฎไธญใงใ‚‚็‰นใซ้ ปๅบฆใŒไฝŽใใ€ๆ‚ฃ่€…ใฏๅ…จไธ–็•Œใซๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใŒ็™พๆ•ฐๅไพ‹ใฎๅ ฑๅ‘Šใซใ™ใŽใชใ„ใ€‚่‡จๅบŠ็š„ใซ2็จฎ้กžใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไนณๅนผๅ…ๆœŸใซ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใง็™บ็—‡ใ—้€ฒ่กŒใŒๆ—ฉใใ€ๆฑ—ใฎNaClๆฟƒๅบฆใฎไธŠๆ˜‡ใ‚’็‰นๅพดใจใ™ใ‚‹้‡็—‡ๅž‹ใงใ‚ใ‚‹Iๅž‹ใจใ€1โˆ’2ๆญณใง็™บ็—‡ใ—้€ฒ่กŒใŒ้…ใ่ขซ่ง’่ก€็ฎก่…ซ๏ผˆangiokeratoma corporis diffusum๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹่ปฝ็—‡ใฎIIๅž‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200553 + Fucosidosis + ใตใ“ใ—ใฉใƒผใ—ใ™ ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + - + ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 129 - ็ณ–่›‹็™ฝ่ณชใฎ็ณ–้Ž–ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒชใ‚ฝใ‚ฝโˆ’ใƒ ้…ต็ด ใฎไธญใง๏ผŒใ‚ขใƒซใƒ•ใ‚ก็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ก-mannosidase(LAMAN, EC3.2.1.24)๏ผŒใƒ™ใƒผใ‚ฟ็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ข-mannosidase(MANBA, EC3.2.1.25)ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใ‚Œใžใ‚Œใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹็–พๆ‚ฃใ‚’๏ก-mannosidosis(OMIM #248500), ๏ข-mannosidosis(OMIM #248510)ใจๅ‘ผใ‚“ใงใ„ใ‚‹๏ผŽ๏ก-mannosidase้บไผๅญ(MAN2B1)ใฏ19p13.2-q12ใซ๏ผŒ๏ข-mannosidosis้บไผๅญ(MANBA)ใฏ4q21-25ใซใƒžใƒƒใƒ—ใ•ใ‚Œ๏ผŒใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๅคงๅค‰็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅ›ฝๅ†…ๅ ฑๅ‘Šใฏๆฎ†ใฉใชใ„ใ€‚ - 2200554 - - alpha-Mannosidosis + + 129 + ็ณ–่›‹็™ฝ่ณชใฎ็ณ–้Ž–ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒชใ‚ฝใ‚ฝโˆ’ใƒ ้…ต็ด ใฎไธญใง๏ผŒใ‚ขใƒซใƒ•ใ‚ก็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ก-mannosidase(LAMAN, EC3.2.1.24)๏ผŒใƒ™ใƒผใ‚ฟ็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ข-mannosidase(MANBA, EC3.2.1.25)ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใ‚Œใžใ‚Œใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹็–พๆ‚ฃใ‚’๏ก-mannosidosis(OMIM #248500), ๏ข-mannosidosis(OMIM #248510)ใจๅ‘ผใ‚“ใงใ„ใ‚‹๏ผŽ๏ก-mannosidase้บไผๅญ(MAN2B1)ใฏ19p13.2-q12ใซ๏ผŒ๏ข-mannosidosis้บไผๅญ(MANBA)ใฏ4q21-25ใซใƒžใƒƒใƒ—ใ•ใ‚Œ๏ผŒใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๅคงๅค‰็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅ›ฝๅ†…ๅ ฑๅ‘Šใฏๆฎ†ใฉใชใ„ใ€‚ + NANDO:2200554 + + Mannosidosis + ใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - - beta-Mannosidosis - - + ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 112 - ๏ผ‘๏ผŽ ๆฆ‚่ฆใƒปๅฎš็พฉใ‚ขใƒซใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ€ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใฎN-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณใŠใ‚ˆใณใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้–“ใฎ็ตๅˆใ‚’ๅˆ‡ๆ–ญใ™ใ‚‹ๅƒใใ‚’ๆŒใคใ€‚ๆœฌ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅฝ“่ฉฒ้ ˜ๅŸŸใŒๅˆ†่งฃใ•ใ‚Œใชใ„ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใŒใƒชใ‚ฝใ‚ฝใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใชใ‚Šใ€ๆ‚ฃ่€…ใฏใ€ๆ˜“ๆ„ŸๆŸ“ใ‚„็ฒพ็ฅž็™บ้”้…ๅปถใ€็ฒ—ใช้ก”่ฒŒใŠใ‚ˆใณ้ชจ็•ฐๅธธใชใฉใฎ็—‡็Šถใ‚’็คบใ™ใ€‚ - 2200555 - + + 112 + ๏ผ‘๏ผŽ ๆฆ‚่ฆใƒปๅฎš็พฉใ‚ขใƒซใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ€ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใฎN-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณใŠใ‚ˆใณใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้–“ใฎ็ตๅˆใ‚’ๅˆ‡ๆ–ญใ™ใ‚‹ๅƒใใ‚’ๆŒใคใ€‚ๆœฌ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅฝ“่ฉฒ้ ˜ๅŸŸใŒๅˆ†่งฃใ•ใ‚Œใชใ„ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใŒใƒชใ‚ฝใ‚ฝใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใชใ‚Šใ€ๆ‚ฃ่€…ใฏใ€ๆ˜“ๆ„ŸๆŸ“ใ‚„็ฒพ็ฅž็™บ้”้…ๅปถใ€็ฒ—ใช้ก”่ฒŒใŠใ‚ˆใณ้ชจ็•ฐๅธธใชใฉใฎ็—‡็Šถใ‚’็คบใ™ใ€‚ + NANDO:2200555 + Aspartylglucosaminuria + ใ‚ใ™ใฑใ‚‹ใกใ‚‹ใใ‚‹ใ“ใ•ใฟใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡ + - - + ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡ - - 118 - ใƒชใ‚ฝใ‚ฝใƒผใƒ ๆ€งใƒŽใ‚คใƒฉใƒŸใƒ‹ใƒ€ใƒผใ‚ผ๏ผˆใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ2ใคใฎใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅณใกใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ๆ–‘ใจใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ‚’ไผดใ†็ฌฌ1ๅž‹ใจใ€ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฎไป–ใซใ€้ก”่ฒŒใ‚„้ชจ็•ฐๅธธใฎๅญ˜ๅœจใ‚’็‰นๅพดใจใ™ใ‚‹็ฌฌ2ๅž‹ใงใ‚ใ‚‹ใ€‚ - 2200556 - + + 118 + ใƒชใ‚ฝใ‚ฝใƒผใƒ ๆ€งใƒŽใ‚คใƒฉใƒŸใƒ‹ใƒ€ใƒผใ‚ผ๏ผˆใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ2ใคใฎใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅณใกใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ๆ–‘ใจใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ‚’ไผดใ†็ฌฌ1ๅž‹ใจใ€ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฎไป–ใซใ€้ก”่ฒŒใ‚„้ชจ็•ฐๅธธใฎๅญ˜ๅœจใ‚’็‰นๅพดใจใ™ใ‚‹็ฌฌ2ๅž‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200556 + Sialidosis + ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น - - + - - + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น - - 114 - ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งไฟ่ญท่›‹็™ฝ่ณช/ใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆPPCA๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚PPCAใฏใ€ใใ‚Œ่‡ชไฝ“ใŒใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆ้…ธๆ€งใ‚ซใƒซใƒœใ‚ญใ‚ทใƒšใƒ—ใƒใƒ€ใƒผใ‚ผใ€ไธญๆ€งใ‚ปใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผใŠใ‚ˆใณใƒ‡ใ‚ขใƒŸใƒ€ใƒผใ‚ผ๏ผ‰ใจใ—ใฆใฎ้…ต็ด ๆดปๆ€งใ‚’ๆŒใคใ ใ‘ใงใชใใ€็ดฐ่ƒžๅ†…ใซใŠใ„ใฆใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใ‚„ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใจๅ…ฑใซ้ซ˜ๅˆ†ๅญ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใฆใ€ๅ‰่€…ใ‚’ๆดปๆ€งๅŒ–ใ—ใ€ๅพŒ่€…ใ‚’ๅฎ‰ๅฎšๅŒ–ใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆŒใคๅคšๆฉŸ่ƒฝๆ€ง็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ€‚ใ“ใฎPPCAใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Šใ€ไธ€ๆฌก็š„ใชใ‚ซใƒ†ใƒ—ใ‚ทใƒณAๆดปๆ€งใฎไฝŽไธ‹ใจไบŒๆฌก็š„ใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใŠใ‚ˆใณฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใŒ่ตทใ“ใ‚Šใ€ใใฎ็ตๆžœใ€ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’ๆฅใŸใ™็–พๆ‚ฃใŒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นใงใ‚ใ‚‹ใ€‚ - 2200557 - + + 114 + ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งไฟ่ญท่›‹็™ฝ่ณช/ใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆPPCA๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚PPCAใฏใ€ใใ‚Œ่‡ชไฝ“ใŒใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆ้…ธๆ€งใ‚ซใƒซใƒœใ‚ญใ‚ทใƒšใƒ—ใƒใƒ€ใƒผใ‚ผใ€ไธญๆ€งใ‚ปใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผใŠใ‚ˆใณใƒ‡ใ‚ขใƒŸใƒ€ใƒผใ‚ผ๏ผ‰ใจใ—ใฆใฎ้…ต็ด ๆดปๆ€งใ‚’ๆŒใคใ ใ‘ใงใชใใ€็ดฐ่ƒžๅ†…ใซใŠใ„ใฆใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใ‚„ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใจๅ…ฑใซ้ซ˜ๅˆ†ๅญ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใฆใ€ๅ‰่€…ใ‚’ๆดปๆ€งๅŒ–ใ—ใ€ๅพŒ่€…ใ‚’ๅฎ‰ๅฎšๅŒ–ใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆŒใคๅคšๆฉŸ่ƒฝๆ€ง็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ€‚ใ“ใฎPPCAใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Šใ€ไธ€ๆฌก็š„ใชใ‚ซใƒ†ใƒ—ใ‚ทใƒณAๆดปๆ€งใฎไฝŽไธ‹ใจไบŒๆฌก็š„ใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใŠใ‚ˆใณฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใŒ่ตทใ“ใ‚Šใ€ใใฎ็ตๆžœใ€ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’ๆฅใŸใ™็–พๆ‚ฃใŒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นใงใ‚ใ‚‹ใ€‚ + NANDO:2200557 + Galactosialidosis + ใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + - - + ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น - - 119 - ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€็ณ–่„‚่ณชใฎๆœซ็ซฏฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น็ตๅˆใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ใฏใ˜ใ‚ใจใ—ใฆๅ…จ่บซ่‡“ๅ™จใซGM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใ€ใ‚ชใƒชใ‚ด็ณ–ใ€ใƒ ใ‚ณๅคš็ณ–๏ผˆใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผ‰ใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไธปใจใ™ใ‚‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…จ่บซ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใƒขใƒซใ‚ญใ‚ชB็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡๏ฝž20ไธ‡ไบบใจใ•ใ‚Œใ€็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ3๏ฝž6ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€ๅ…จ่บซๆ€งใ‘ใ„ใ‚Œใ‚“ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€่‚่„พ่…ซใ€ๅ…จ่บซใฎ้ชจ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ1ๆญณๅ‰ๅพŒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ‚„ใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง็Ÿฅ่ƒฝ้šœๅฎณใŒๅฐ‘ใชใ„ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200558 - - GM1-gangliosidosis - GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + 119 + ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€็ณ–่„‚่ณชใฎๆœซ็ซฏฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น็ตๅˆใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ใฏใ˜ใ‚ใจใ—ใฆๅ…จ่บซ่‡“ๅ™จใซGM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใ€ใ‚ชใƒชใ‚ด็ณ–ใ€ใƒ ใ‚ณๅคš็ณ–๏ผˆใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผ‰ใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไธปใจใ™ใ‚‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…จ่บซ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใƒขใƒซใ‚ญใ‚ชB็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡๏ฝž20ไธ‡ไบบใจใ•ใ‚Œใ€็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ3๏ฝž6ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€ๅ…จ่บซๆ€งใ‘ใ„ใ‚Œใ‚“ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€่‚่„พ่…ซใ€ๅ…จ่บซใฎ้ชจ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ1ๆญณๅ‰ๅพŒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ‚„ใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง็Ÿฅ่ƒฝ้šœๅฎณใŒๅฐ‘ใชใ„ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200558 + + GM1 Gangliosidosis + GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + - + + Beta-galactosidase-1 deficiency - GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - - 120 - GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใจB ไธกๆ–นใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใ€GM2ๆดปๆ€งๅŒ–่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ไธญๅฟƒใซGM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใŒ1/30ไธ‡ไบบใจใ•ใ‚Œใ€GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใฏใใ‚ใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ6๏ฝž7ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ‚’่ชใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚่‹ฅๅนดๅž‹ใฏ2๏ฝž10ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง20๏ฝž30ๆญณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200559 - - GM2-gangliosidosis - GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 120 + GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใจB ไธกๆ–นใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใ€GM2ๆดปๆ€งๅŒ–่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ไธญๅฟƒใซGM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใŒ1/30ไธ‡ไบบใจใ•ใ‚Œใ€GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใฏใใ‚ใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ6๏ฝž7ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ‚’่ชใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚่‹ฅๅนดๅž‹ใฏ2๏ฝž10ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง20๏ฝž30ๆญณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200559 + + GM2 gangliosidosis + GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + - + - GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น - - 113 - ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณ็™ฝ่ณชใ€ๆœซๆขข็ฅž็ตŒใ€่…Ž่‡“ใชใฉใซใ‚นใƒซใƒ•ใ‚กใƒใƒ‰ใŒ่“„็ฉใ—ใ€ไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚็™บ็—‡้ ปๅบฆใฏ4ไธ‡๏ฝž16ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ2ๆญณใพใงใซ็™บ็—‡ใ—ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๆทฑ้ƒจ่…ฑๅๅฐ„ๆถˆๅคฑใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ4๏ฝž6ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็—™ๆ€ง้บป็—บใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏ10ไปฃๅพŒๅŠไปฅ้™ใซๆƒ…็ท’้šœๅฎณใ€่จ€่ชž้šœๅฎณใ€็—ดๅ‘†ใ€็ฒพ็ฅž็—‡็Šถใชใฉใง็™บ็—‡ใ—ใ€5๏ฝž10ๅนดใฎ็ตŒ้Žใง้€ฒ่กŒใ™ใ‚‹ใ€‚ - 2200560 - + + 113 + ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณ็™ฝ่ณชใ€ๆœซๆขข็ฅž็ตŒใ€่…Ž่‡“ใชใฉใซใ‚นใƒซใƒ•ใ‚กใƒใƒ‰ใŒ่“„็ฉใ—ใ€ไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚็™บ็—‡้ ปๅบฆใฏ4ไธ‡๏ฝž16ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ2ๆญณใพใงใซ็™บ็—‡ใ—ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๆทฑ้ƒจ่…ฑๅๅฐ„ๆถˆๅคฑใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ4๏ฝž6ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็—™ๆ€ง้บป็—บใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏ10ไปฃๅพŒๅŠไปฅ้™ใซๆƒ…็ท’้šœๅฎณใ€่จ€่ชž้šœๅฎณใ€็—ดๅ‘†ใ€็ฒพ็ฅž็—‡็Šถใชใฉใง็™บ็—‡ใ—ใ€5๏ฝž10ๅนดใฎ็ตŒ้Žใง้€ฒ่กŒใ™ใ‚‹ใ€‚ + NANDO:2200560 + Metachromatic leukodystrophy + ใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - + - - + + MLD ็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 123 - ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ๏ผˆNiemann-Pick๏ผ‰็—…ใฏใ€้…ธๆ€งใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒŠใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹Aๅž‹ใ€Bๅž‹ใจNPC1ใพใŸใฏNPC2่›‹็™ฝใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹Cๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‚่‡“ใ€่„พ่‡“ใ€้ชจ้ซ„ใฎ็ถฒๅ†…็ณป็ดฐ่ƒžใจ็ฅž็ตŒ็ดฐ่ƒžใซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒณใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ€็ณ–่„‚่ณชใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ12ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚Aๅž‹ใฏไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใ€็ฒพ็ฅž้‹ๅ‹•้šœๅฎณใ€ๅž‚็›ดๆ–นๅ‘ใฎ็œผ็ƒ้‹ๅ‹•้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚Bๅž‹ใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใŒไธปไฝ“ใงใ‚ใ‚Šใ€็ฅž็ตŒ็—‡็Šถใฏไผดใ‚ใชใ„ใ€‚Cๅž‹ใฎ็™บ็—‡ๅนด้ฝขใฏๆง˜ใ€…ใงใ€่‚่„พ่…ซใ€ใ‚ซใ‚ฟใƒฌใƒ—ใ‚ญใ‚ทใƒผใ€ๅž‚็›ด็œผ็ƒ้‹ๅ‹•้šœๅฎณใ€ๅคฑ่ชฟใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€็—ดๅ‘†ใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบ็™บ็—‡ใงใฏ็—ดๅ‘†ใ€ๆŠ‘ใ†ใค็—‡็Šถใชใฉใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ - 2200561 - + + 123 + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ๏ผˆNiemann-Pick๏ผ‰็—…ใฏใ€้…ธๆ€งใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒŠใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹Aๅž‹ใ€Bๅž‹ใจNPC1ใพใŸใฏNPC2่›‹็™ฝใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹Cๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‚่‡“ใ€่„พ่‡“ใ€้ชจ้ซ„ใฎ็ถฒๅ†…็ณป็ดฐ่ƒžใจ็ฅž็ตŒ็ดฐ่ƒžใซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒณใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ€็ณ–่„‚่ณชใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ12ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚Aๅž‹ใฏไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใ€็ฒพ็ฅž้‹ๅ‹•้šœๅฎณใ€ๅž‚็›ดๆ–นๅ‘ใฎ็œผ็ƒ้‹ๅ‹•้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚Bๅž‹ใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใŒไธปไฝ“ใงใ‚ใ‚Šใ€็ฅž็ตŒ็—‡็Šถใฏไผดใ‚ใชใ„ใ€‚Cๅž‹ใฎ็™บ็—‡ๅนด้ฝขใฏๆง˜ใ€…ใงใ€่‚่„พ่…ซใ€ใ‚ซใ‚ฟใƒฌใƒ—ใ‚ญใ‚ทใƒผใ€ๅž‚็›ด็œผ็ƒ้‹ๅ‹•้šœๅฎณใ€ๅคฑ่ชฟใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€็—ดๅ‘†ใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบ็™บ็—‡ใงใฏ็—ดๅ‘†ใ€ๆŠ‘ใ†ใค็—‡็Šถใชใฉใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200561 + Niemann-Pick disease + ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ† ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—… - + + NPD Niemann-Pick็—… ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—… - - 116 - ใ‚ดใƒผใ‚ทใ‚ง็—…ใฏใ€ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆๅˆฅๅฮฒโˆ’ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใŒไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใ—ใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹็ณ–่„‚่ณชใฎใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใŒ็ต„็น”ใซ่“„็ฉใ™ใ‚‹ใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นใฎใฒใจใคใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏใ€ไฝ“ไธญใฎใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ่“„็ฉใ—ใ€่‚่„พ่…ซใ€้ชจ็—›ใ‚„็—…็š„้ชจๆŠ˜ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ - 2200562 - + + 116 + ใ‚ดใƒผใ‚ทใ‚ง็—…ใฏใ€ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆๅˆฅๅฮฒโˆ’ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใŒไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใ—ใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹็ณ–่„‚่ณชใฎใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใŒ็ต„็น”ใซ่“„็ฉใ™ใ‚‹ใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นใฎใฒใจใคใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏใ€ไฝ“ไธญใฎใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ่“„็ฉใ—ใ€่‚่„พ่…ซใ€้ชจ็—›ใ‚„็—…็š„้ชจๆŠ˜ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ + NANDO:2200562 + Gaucher disease + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ† ใ‚ดใƒผใ‚ทใ‚ง็—… - + - + Gaucher็—… ใ‚ดใƒผใ‚ทใ‚ง็—… - - 125 - ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ๅŠ ๆฐดๅˆ†่งฃ้…ต็ด ใฎไธ€ใคใงใ‚ใ‚‹ฮฑ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒญใƒœใƒˆใƒชใ‚ขใ‚ชใ‚ทใƒซใ‚ปใƒฉใƒŸใƒ‰ใŒใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ€ๅนณๆป‘็ญ‹็ดฐ่ƒžใ€ๆฑ—่…บใ€่…Ž่‡“ใ€ๅฟƒ็ญ‹ใ€่‡ชๅพ‹็ฅž็ตŒ็ฏ€ใ€่ง’่†œใซ่“„็ฉใ—ใ€่…Ž้šœๅฎณใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€็šฎ่†š็—…ๅค‰ใ€ๅ››่‚ขๆœซ็ซฏ็—›ใ€่ง’่†œๆททๆฟใชใฉใ‚’็”Ÿใ˜ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ใƒ˜ใƒ†ใƒญ็ตๅˆไฝ“ใฎๅฅณๆ€งใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200563 - + + 125 + ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ๅŠ ๆฐดๅˆ†่งฃ้…ต็ด ใฎไธ€ใคใงใ‚ใ‚‹ฮฑ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒญใƒœใƒˆใƒชใ‚ขใ‚ชใ‚ทใƒซใ‚ปใƒฉใƒŸใƒ‰ใŒใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ€ๅนณๆป‘็ญ‹็ดฐ่ƒžใ€ๆฑ—่…บใ€่…Ž่‡“ใ€ๅฟƒ็ญ‹ใ€่‡ชๅพ‹็ฅž็ตŒ็ฏ€ใ€่ง’่†œใซ่“„็ฉใ—ใ€่…Ž้šœๅฎณใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€็šฎ่†š็—…ๅค‰ใ€ๅ››่‚ขๆœซ็ซฏ็—›ใ€่ง’่†œๆททๆฟใชใฉใ‚’็”Ÿใ˜ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ใƒ˜ใƒ†ใƒญ็ตๅˆไฝ“ใฎๅฅณๆ€งใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200563 + Fabry disease + ใตใใถใ‚Šใƒผใณใ‚‡ใ† ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + - - + Fabry็—… ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… - - 115 - ใ‚ฏใƒฉใƒƒใƒ™็—…๏ผˆKrabbe disease๏ผ‰ใฏใ€ใ‚ฐใƒญใƒœใ‚คใƒ‰็ดฐ่ƒž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆgloboid-cell leukodystrophy; GLD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใจๆœซๆขขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใฎ้šœๅฎณใ‹ใ‚‰่„ฑ้š๏ผˆ้ซ„้ž˜ใ€ใƒŸใ‚จใƒชใƒณใฎ็ ดๅฃŠ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใจๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใพใŸใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎใŠใ‚‚ใชๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏ่“„็ฉใ—ใชใ„ใŒใ€ๅพฎ้‡ใชๅŸบ่ณชใฎใ‚ตใ‚คใ‚ณใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็ดฐ่ƒž้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200564 - + + 115 + ใ‚ฏใƒฉใƒƒใƒ™็—…๏ผˆKrabbe disease๏ผ‰ใฏใ€ใ‚ฐใƒญใƒœใ‚คใƒ‰็ดฐ่ƒž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆgloboid-cell leukodystrophy; GLD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใจๆœซๆขขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใฎ้šœๅฎณใ‹ใ‚‰่„ฑ้š๏ผˆ้ซ„้ž˜ใ€ใƒŸใ‚จใƒชใƒณใฎ็ ดๅฃŠ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใจๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใพใŸใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎใŠใ‚‚ใชๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏ่“„็ฉใ—ใชใ„ใŒใ€ๅพฎ้‡ใชๅŸบ่ณชใฎใ‚ตใ‚คใ‚ณใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็ดฐ่ƒž้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200564 + Krabbe disease + ใใ‚‰ใฃในใณใ‚‡ใ† ใ‚ฏใƒฉใƒƒใƒ™็—… + - - + Krabbe็—… ใ‚ฏใƒฉใƒƒใƒ™็—… - - 124 - ใƒ•ใ‚กใƒผใƒใƒผ็—…ใฏใ€้…ธๆ€งใ‚ปใƒฉใƒŸใƒ€ใƒผใ‚ผ๏ผˆN-ใ‚ขใ‚ทใƒซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใ‚ทใƒณใ‚ขใƒŸใƒ‰ใƒ’ใƒ‰ใƒญใƒฉใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅŸบ่ณชใงใ‚ใ‚‹ใ‚ปใƒฉใƒŸใƒ‰๏ผˆceramide๏ผ‰ใŒๆง˜ใ€…ใช็ต„็น”ใซ่“„็ฉใ—ใ€้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹้–ข็ฏ€ใฎๆœ‰็—›ๆ€ง่…ซ่„นใ€่‚‰่Šฝ่…ซๅฝขๆˆใ€ๆ‹˜็ธฎใฏๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚‹็‚Ž็—‡ๆ€งๅค‰ๅŒ–ใซๅŸบใฅใใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200565 - + + 124 + ใƒ•ใ‚กใƒผใƒใƒผ็—…ใฏใ€้…ธๆ€งใ‚ปใƒฉใƒŸใƒ€ใƒผใ‚ผ๏ผˆN-ใ‚ขใ‚ทใƒซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใ‚ทใƒณใ‚ขใƒŸใƒ‰ใƒ’ใƒ‰ใƒญใƒฉใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅŸบ่ณชใงใ‚ใ‚‹ใ‚ปใƒฉใƒŸใƒ‰๏ผˆceramide๏ผ‰ใŒๆง˜ใ€…ใช็ต„็น”ใซ่“„็ฉใ—ใ€้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹้–ข็ฏ€ใฎๆœ‰็—›ๆ€ง่…ซ่„นใ€่‚‰่Šฝ่…ซๅฝขๆˆใ€ๆ‹˜็ธฎใฏๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚‹็‚Ž็—‡ๆ€งๅค‰ๅŒ–ใซๅŸบใฅใใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200565 + Farber disease + ใตใใƒผใฐใƒผใณใ‚‡ใ† ใƒ•ใ‚กใƒผใƒใƒผ็—… + - + + FD + Farber's lipogranulomatosis Farber็—… ใƒ•ใ‚กใƒผใƒใƒผ็—… - - 128 - ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ›ใƒซใƒŸใƒซใ‚ฐใƒชใ‚ทใƒณ็”Ÿๆˆ้…ต็ด ๏ผˆformyglycine-generating enzyme; FGE๏ผ‰ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹sulfatase modifying factor 1๏ผˆSUMF1๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€FGE่›‹็™ฝ่ณชใฎไธๅฎ‰ๅฎšๅŒ–ใ€ๅŸบ่ณชใจใฎๅนฒๆธ‰ใ€่ค‡ๆ•ฐใฎใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใƒ ใ‚ณๅคš็ณ–็—‡ใซ้กžไผผใ—ใŸๆง˜ใ€…ใช็ต„็น”้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚ - 2200566 - + + 128 + ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ›ใƒซใƒŸใƒซใ‚ฐใƒชใ‚ทใƒณ็”Ÿๆˆ้…ต็ด ๏ผˆformyglycine-generating enzyme; FGE๏ผ‰ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹sulfatase modifying factor 1๏ผˆSUMF1๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€FGE่›‹็™ฝ่ณชใฎไธๅฎ‰ๅฎšๅŒ–ใ€ๅŸบ่ณชใจใฎๅนฒๆธ‰ใ€่ค‡ๆ•ฐใฎใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใƒ ใ‚ณๅคš็ณ–็—‡ใซ้กžไผผใ—ใŸๆง˜ใ€…ใช็ต„็น”้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚ + NANDO:2200566 + Multiple sulfatase deficiency + ใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + - - + + ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ - - 136 - N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅ› ใงใ‚ใ‚‹ใ€‚GNPTใฏใ€ฮฑ2ฮฒ2ฮณ2ใฎ6ใคใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‹ใ‚‰ใชใ‚Šใ€่ฒฌไปป้บไผๅญใฏฮฑใŠใ‚ˆใณฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNTPAB้บไผๅญใŠใ‚ˆใณฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNPG้บไผๅญใฎ2ใคใงใ‚ใ‚‹ใ€‚้…ต็ด ๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒ็”Ÿๆˆใ•ใ‚ŒใŸใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใธใฎใ‚ฟใƒผใ‚ฒใƒ†ใ‚ฃใƒณใ‚ฐใซ็•ฐๅธธใ‚’ใใŸใ—๏ผŒ็ดฐ่ƒžๅค–ใƒžใƒˆใƒชใƒƒใ‚ฏใ‚นใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใŒๆฉŸ่ƒฝใ™ใ‚‹ใŸใ‚ใซใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€ง็’ฐๅขƒใŒๅฟ…่ฆใงใ‚ใ‚‹ใŸใ‚๏ผŒๆ‚ฃ่€…ใงใฏ๏ผŒใ‚ใ‚‰ใ‚†ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใŒ็ดฐ่ƒžๅ†…ใงๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ - 2200567 - + + 136 + N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅ› ใงใ‚ใ‚‹ใ€‚GNPTใฏใ€ฮฑ2ฮฒ2ฮณ2ใฎ6ใคใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‹ใ‚‰ใชใ‚Šใ€่ฒฌไปป้บไผๅญใฏฮฑใŠใ‚ˆใณฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNTPAB้บไผๅญใŠใ‚ˆใณฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNPG้บไผๅญใฎ2ใคใงใ‚ใ‚‹ใ€‚้…ต็ด ๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒ็”Ÿๆˆใ•ใ‚ŒใŸใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใธใฎใ‚ฟใƒผใ‚ฒใƒ†ใ‚ฃใƒณใ‚ฐใซ็•ฐๅธธใ‚’ใใŸใ—๏ผŒ็ดฐ่ƒžๅค–ใƒžใƒˆใƒชใƒƒใ‚ฏใ‚นใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใŒๆฉŸ่ƒฝใ™ใ‚‹ใŸใ‚ใซใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€ง็’ฐๅขƒใŒๅฟ…่ฆใงใ‚ใ‚‹ใŸใ‚๏ผŒๆ‚ฃ่€…ใงใฏ๏ผŒใ‚ใ‚‰ใ‚†ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใŒ็ดฐ่ƒžๅ†…ใงๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ + NANDO:2200567 + Mucolipidosis II - ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…กๅž‹ + ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ + ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ + - + + I-cell disease I-cell็—… + ML II - ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…กๅž‹ + ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ - - 137 - 1ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ใฎ่ปฝ็—‡ๅž‹ใงใ€N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚‹ใ€‚ๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ใ€”็–ซๅญฆใ€•10ไธ‡๏ฝž20ไธ‡ไบบใซ1ไบบใใ‚‰ใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200568 - + + 137 + 1ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ใฎ่ปฝ็—‡ๅž‹ใงใ€N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚‹ใ€‚ๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ใ€”็–ซๅญฆใ€•10ไธ‡๏ฝž20ไธ‡ไบบใซ1ไบบใใ‚‰ใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200568 + Mucolipidosis III - ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…ขๅž‹ - + ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™3ใŒใŸ + ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹ + - + + ML III - ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…ขๅž‹ + ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹ - - 127 - ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซใŠใ‘ใ‚‹้…ธๆ€งฮฑ-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚Šใ€ไธปใซ็ญ‹็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200569 - + + 127 + ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซใŠใ‘ใ‚‹้…ธๆ€งฮฑ-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚Šใ€ไธปใซ็ญ‹็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200569 + Pompe disease + ใฝใ‚“ใบใณใ‚‡ใ† ใƒใƒณใƒš็—… - + Pompe็—… glycogen storage disease type II ใƒใƒณใƒš็—… - - 117 - ้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒใปใจใ‚“ใฉใฎๅ†…่‡“็ต„็น”ไธญใฎ็ต„็น”็ƒๆ€งๆณกๆฒซ็ดฐ่ƒžใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใจใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎใƒฉใ‚คใ‚ฝใ‚ฝใƒผใƒ ่“„็ฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ้‡็—‡ๅž‹ใฎWolman็—…๏ผˆWolman disease๏ผ‰ใจ่ปฝ็—‡ๅž‹ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡๏ผˆcholesterol ester storage disease๏ผšCESD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200570 - + + 117 + ้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒใปใจใ‚“ใฉใฎๅ†…่‡“็ต„็น”ไธญใฎ็ต„็น”็ƒๆ€งๆณกๆฒซ็ดฐ่ƒžใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใจใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎใƒฉใ‚คใ‚ฝใ‚ฝใƒผใƒ ่“„็ฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ้‡็—‡ๅž‹ใฎWolman็—…๏ผˆWolman disease๏ผ‰ใจ่ปฝ็—‡ๅž‹ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡๏ผˆcholesterol ester storage disease๏ผšCESD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200570 + Acid lipase deficiency + ใ•ใ‚“ใ›ใ„ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ + - + Wolman disease and cholesterol ester storage disease ้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ - - 121 - ใ‚ทใ‚นใƒใƒณใŒ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚3ๅž‹ใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€่…Ž๏ผˆไนณๅ…๏ผ‰ๅž‹ใฏใ€ใ™ในใฆใฎ็ดฐ่ƒžๅ†…ใงใ‚ทใ‚นใƒใƒณใŒ่“„็ฉใ—ใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š่…Žๆ€งใƒ•ใ‚กใƒณใ‚ณใƒ‹ใƒผ็—‡ๅ€™็พคใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธญ้–“๏ผˆ่‹ฅๅนด๏ผ‰ๅž‹ใฏใ€็ดฐ่ƒžๅ†…ใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎ้€ฒ่กŒใฏ็ทฉๅพใงใ€็™บ็—‡ใฏๆ€ๆ˜ฅๆœŸไปฅ้™ใงใ‚ใ‚‹ใ€‚้ž่…Ž๏ผˆ็œผ๏ผ‰ๅž‹ใฏใ€่ง’่†œใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎใฟใŒ็—‡็Šถใงใ‚ใ‚‹ใ€‚ - 2200571 - + + 121 + ใ‚ทใ‚นใƒใƒณใŒ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚3ๅž‹ใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€่…Ž๏ผˆไนณๅ…๏ผ‰ๅž‹ใฏใ€ใ™ในใฆใฎ็ดฐ่ƒžๅ†…ใงใ‚ทใ‚นใƒใƒณใŒ่“„็ฉใ—ใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š่…Žๆ€งใƒ•ใ‚กใƒณใ‚ณใƒ‹ใƒผ็—‡ๅ€™็พคใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธญ้–“๏ผˆ่‹ฅๅนด๏ผ‰ๅž‹ใฏใ€็ดฐ่ƒžๅ†…ใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎ้€ฒ่กŒใฏ็ทฉๅพใงใ€็™บ็—‡ใฏๆ€ๆ˜ฅๆœŸไปฅ้™ใงใ‚ใ‚‹ใ€‚้ž่…Ž๏ผˆ็œผ๏ผ‰ๅž‹ใฏใ€่ง’่†œใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎใฟใŒ็—‡็Šถใงใ‚ใ‚‹ใ€‚ + NANDO:2200571 + Cystinosis + ใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† ใ‚ทใ‚นใƒใƒณ็—‡ - + - + ใ‚ทใ‚นใƒใƒณ็—‡ - - 138 - ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ่†œใซใŠใ‘ใ‚‹ใ‚ทใ‚ขใƒซ้…ธใฎ่ผธ้€้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ้Š้›ขใ‚ทใ‚ขใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰่ปฝ็—‡ๅž‹ใฏSalla็—…ใ€้‡็—‡ๅž‹ใฏไนณๅ…้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใŠใ‚ˆใณใใฎไธญ้–“ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200572 - + + 138 + ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ่†œใซใŠใ‘ใ‚‹ใ‚ทใ‚ขใƒซ้…ธใฎ่ผธ้€้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ้Š้›ขใ‚ทใ‚ขใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰่ปฝ็—‡ๅž‹ใฏSalla็—…ใ€้‡็—‡ๅž‹ใฏไนณๅ…้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใŠใ‚ˆใณใใฎไธญ้–“ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200572 + Free Sialic Acid Storage Disease + ใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ† ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ - + - - Salla Disease - infantile Free Sialic Acid Storage Disease - - + ้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ - - 122 - ็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใฏ็—…็†ๅญฆ็š„ใซ่ฆๅฎšใ•ใ‚Œใ‚‹็ฅž็ตŒๅค‰ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็ฅž็ตŒ็ดฐ่ƒžใ€ๅฟƒ็ญ‹ใ€้ชจๆ ผ็ญ‹ใซ้›ปๅญๅฏ†ๅบฆใŒ้ซ˜ใใ€่‡ชๅฎถ่›ๅ…‰ใ‚’็™บใ™ใ‚‹ใƒชใƒใƒ•ใ‚นใƒใƒณ้ก†็ฒ’ใฎ่“„็ฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚ - 2200573 - - Neuronal Ceroid Lipofuscinoses + + 122 + ็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใฏ็—…็†ๅญฆ็š„ใซ่ฆๅฎšใ•ใ‚Œใ‚‹็ฅž็ตŒๅค‰ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็ฅž็ตŒ็ดฐ่ƒžใ€ๅฟƒ็ญ‹ใ€้ชจๆ ผ็ญ‹ใซ้›ปๅญๅฏ†ๅบฆใŒ้ซ˜ใใ€่‡ชๅฎถ่›ๅ…‰ใ‚’็™บใ™ใ‚‹ใƒชใƒใƒ•ใ‚นใƒใƒณ้ก†็ฒ’ใฎ่“„็ฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚ + NANDO:2200573 + + Neuronal ceroid lipofuscinoses + ใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† ็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ - + NCL ็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ - - 139 - ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€็ดฐ่ƒžๅ†…ใซใ‚ใ‚‹ๅฐๅ™จๅฎ˜ใฎไธ€ใคใงใ‚ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใ‚„็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใฃใฆใ€ๅˆ†่งฃใ•ใ‚Œใ‚‹ในใ็‰ฉ่ณชใŒ่€ๅปƒ็‰ฉใจใ—ใฆไฝ“ๅ†…ใซ่“„็ฉใ—ใฆใ—ใพใ†ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚่“„็ฉ็‰ฉ่ณชใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹75ใ€œ101ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200574 - + + 139 + ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€็ดฐ่ƒžๅ†…ใซใ‚ใ‚‹ๅฐๅ™จๅฎ˜ใฎไธ€ใคใงใ‚ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใ‚„็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใฃใฆใ€ๅˆ†่งฃใ•ใ‚Œใ‚‹ในใ็‰ฉ่ณชใŒ่€ๅปƒ็‰ฉใจใ—ใฆไฝ“ๅ†…ใซ่“„็ฉใ—ใฆใ—ใพใ†ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚่“„็ฉ็‰ฉ่ณชใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹75ใ€œ101ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200574 + + 75ใ‹ใ‚‰101ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ† 75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—… Other lysosomal diseases - + 75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—… - - 83 - ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡(Peroxisome Biogenesis Disorders; PBD)ใฏใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใฎ่†œใฎ็”Ÿๅˆๆˆใ‚„่›‹็™ฝใฎๅฑ€ๅœจใซใ‹ใ‹ใ‚ใ‚‹PEX้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ่‡ชไฝ“ใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใใ“ใซๅฑ€ๅœจใ™ในใ่›‹็™ฝใฎใ‹ใ‹ใ‚ใ‚‹ไปฃ่ฌๆฉŸ่ƒฝใŒๅบƒ็ฏ„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใพใงใซ็—…ๅ› ใจใ•ใ‚Œใ‚‹PEX้บไผๅญใฏ13ๅ€‹ๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎใ†ใก่‡ดๆญปๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใง็‚น็Šถ็Ÿณ็ฐๅŒ–ใ‚’ไผดใ†่ฟ‘ไฝๅ„ชไฝใฎๅ››่‚ข็Ÿญ็ธฎ็—‡Rhizomelic chondrodysplasia punctate (RCDP) type1ใฎ็—…ๅ› ใงใ‚ใ‚‹PEX7ใ‚’้™คใ12ๅ€‹ใฎPEX้บไผๅญ็•ฐๅธธ็—‡ใŒZellwegerใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใจใ—ใฆใ€่‡จๅบŠ็š„ใช้‡็—‡ๅบฆใซใ‚ˆใ‚Šๆœ€้‡็—‡ๅž‹ใฎZellweger็—‡ๅ€™็พค(Zellweger syndrome; ZS)ใ€ใ‚„ใ‚„่ปฝ็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(neonatal adrenoleukodystrophy; NALD)ใ€ๆˆไบบ็”Ÿๅญ˜ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ไนณๅ…ๅž‹Refsum็—…(infantile Refsum disease; IRD)ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200575 - + + 83 + ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡(Peroxisome Biogenesis Disorders; PBD)ใฏใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใฎ่†œใฎ็”Ÿๅˆๆˆใ‚„่›‹็™ฝใฎๅฑ€ๅœจใซใ‹ใ‹ใ‚ใ‚‹PEX้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ่‡ชไฝ“ใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใใ“ใซๅฑ€ๅœจใ™ในใ่›‹็™ฝใฎใ‹ใ‹ใ‚ใ‚‹ไปฃ่ฌๆฉŸ่ƒฝใŒๅบƒ็ฏ„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใพใงใซ็—…ๅ› ใจใ•ใ‚Œใ‚‹PEX้บไผๅญใฏ13ๅ€‹ๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎใ†ใก่‡ดๆญปๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใง็‚น็Šถ็Ÿณ็ฐๅŒ–ใ‚’ไผดใ†่ฟ‘ไฝๅ„ชไฝใฎๅ››่‚ข็Ÿญ็ธฎ็—‡Rhizomelic chondrodysplasia punctate (RCDP) type1ใฎ็—…ๅ› ใงใ‚ใ‚‹PEX7ใ‚’้™คใ12ๅ€‹ใฎPEX้บไผๅญ็•ฐๅธธ็—‡ใŒZellwegerใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใจใ—ใฆใ€่‡จๅบŠ็š„ใช้‡็—‡ๅบฆใซใ‚ˆใ‚Šๆœ€้‡็—‡ๅž‹ใฎZellweger็—‡ๅ€™็พค(Zellweger syndrome; ZS)ใ€ใ‚„ใ‚„่ปฝ็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(neonatal adrenoleukodystrophy; NALD)ใ€ๆˆไบบ็”Ÿๅญ˜ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ไนณๅ…ๅž‹Refsum็—…(infantile Refsum disease; IRD)ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200575 + Peroxisome Biogenesis Disorders + ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡ - + - + - ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡ - - 82 - ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(adrenoleukodystrophy; ALD)ใฏไธญๆžข็ฅž็ตŒใฎ็™ฝ่ณชใจๅ‰ฏ่…Žใฎ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ€๏ผ“ใ€œ10ๆญณใง็™บ็—‡ใ—ใฆๅคง่„ณๅŠ็ƒใฎๅบƒ็ฏ„ใช้€ฒ่กŒๆ€ง่„ฑ้ซ„ใจๅ‰ฏ่…ŽๆฉŸ่ƒฝไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹ๅฐๅ…ๅคง่„ณๅž‹ใ‚„20ๆญณไปฅ้™ใซ็—™ๆ€งๆญฉ่กŒใง็™บ็—‡ใ™ใ‚‹adrenomyeloneuropathy (AMN)ใ€ๆˆไบบใงๆ€งๆ ผๅค‰ๅŒ–ใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็ฒพ็ฅž็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ๆˆไบบๅคง่„ณๅž‹ใซใ€ๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใฎใฟใฎใ‚ฟใ‚คใƒ—ใชใฉๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚’ๆœ‰ใ—ใฆใ„ใ‚‹ใ€‚็—…ๅ› ใฏXq28ใซๅญ˜ๅœจใ™ใ‚‹ABCD1้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ—ใ‹ใ—ใใฎ็—…ๆ…‹ใซใคใ„ใฆใฏใปใจใ‚“ใฉ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚‚้บไผๅญๅค‰็•ฐใจใฏ็›ธ้–ขใŒ็„กใใ€่„ฑ้ซ„ใฎ็™บ็—‡ๆฉŸๅบใ‚„ๆฅต้•ท้Ž–่„‚่‚ช้…ธ่“„็ฉใฎ็—…ๆ…‹ใธใฎ้–ขไธŽใ‚‚ๆœช่งฃๆ˜Žใงใ‚ใ‚‹ใ€‚ใพใŸๅคง่„ณๅž‹ใฎๅ”ฏไธ€ใฎๆฒป็™‚ๆณ•ใฏ็™บ็—‡ๆ—ฉๆœŸใฎ้€ ่ก€็ดฐ่ƒž็งปๆคใงใ‚ใ‚‹ใ€‚ - 2200576 - + + 82 + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(adrenoleukodystrophy; ALD)ใฏไธญๆžข็ฅž็ตŒใฎ็™ฝ่ณชใจๅ‰ฏ่…Žใฎ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ€๏ผ“ใ€œ10ๆญณใง็™บ็—‡ใ—ใฆๅคง่„ณๅŠ็ƒใฎๅบƒ็ฏ„ใช้€ฒ่กŒๆ€ง่„ฑ้ซ„ใจๅ‰ฏ่…ŽๆฉŸ่ƒฝไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹ๅฐๅ…ๅคง่„ณๅž‹ใ‚„20ๆญณไปฅ้™ใซ็—™ๆ€งๆญฉ่กŒใง็™บ็—‡ใ™ใ‚‹adrenomyeloneuropathy (AMN)ใ€ๆˆไบบใงๆ€งๆ ผๅค‰ๅŒ–ใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็ฒพ็ฅž็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ๆˆไบบๅคง่„ณๅž‹ใซใ€ๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใฎใฟใฎใ‚ฟใ‚คใƒ—ใชใฉๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚’ๆœ‰ใ—ใฆใ„ใ‚‹ใ€‚็—…ๅ› ใฏXq28ใซๅญ˜ๅœจใ™ใ‚‹ABCD1้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ—ใ‹ใ—ใใฎ็—…ๆ…‹ใซใคใ„ใฆใฏใปใจใ‚“ใฉ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚‚้บไผๅญๅค‰็•ฐใจใฏ็›ธ้–ขใŒ็„กใใ€่„ฑ้ซ„ใฎ็™บ็—‡ๆฉŸๅบใ‚„ๆฅต้•ท้Ž–่„‚่‚ช้…ธ่“„็ฉใฎ็—…ๆ…‹ใธใฎ้–ขไธŽใ‚‚ๆœช่งฃๆ˜Žใงใ‚ใ‚‹ใ€‚ใพใŸๅคง่„ณๅž‹ใฎๅ”ฏไธ€ใฎๆฒป็™‚ๆณ•ใฏ็™บ็—‡ๆ—ฉๆœŸใฎ้€ ่ก€็ดฐ่ƒž็งปๆคใงใ‚ใ‚‹ใ€‚ + NANDO:2200576 + Adrenoleukodystrophy + ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - + - - + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 84 - ใƒฌใƒ•ใ‚ตใƒ ็—…ใฏใ€โ€heredopathia atactica polyneuritiformisโ€ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๆ‚ฃ่€…ใฏ่‹ฑๅ›ฝใ‚„ๅŒ—ๆฌงใซๅคšใ„ใ€‚็„กๅ—…่ฆš็—‡ใƒปๆ—ฉๆœŸ็™บ็—‡ใฎ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใซๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ€้ญš้ฑ—็™ฌใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹phytanic-CoA hydroxylase (phyH) ใฎๆฌ ๆใซใ‚ˆใ‚Š่ก€ไธญใฎใƒ•ใ‚ฃใ‚ฟใƒณ้…ธใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚ - 2200577 - + + 84 + ใƒฌใƒ•ใ‚ตใƒ ็—…ใฏใ€โ€heredopathia atactica polyneuritiformisโ€ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๆ‚ฃ่€…ใฏ่‹ฑๅ›ฝใ‚„ๅŒ—ๆฌงใซๅคšใ„ใ€‚็„กๅ—…่ฆš็—‡ใƒปๆ—ฉๆœŸ็™บ็—‡ใฎ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใซๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ€้ญš้ฑ—็™ฌใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹phytanic-CoA hydroxylase (phyH) ใฎๆฌ ๆใซใ‚ˆใ‚Š่ก€ไธญใฎใƒ•ใ‚ฃใ‚ฟใƒณ้…ธใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚ + NANDO:2200577 + Refsum disease + ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ† ใƒฌใƒ•ใ‚ตใƒ ็—… + - + Refsum็—… ใƒฌใƒ•ใ‚ตใƒ ็—… - - 85 - ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใ“ใ‚Œใ‚‰ใฎ้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใ‚„่†œใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใฎใซๅฟ…่ฆใชPEX้บไผๅญใฎ็•ฐๅธธ๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ2ใคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹103ใ€œ105ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200578 - + + 85 + ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใ“ใ‚Œใ‚‰ใฎ้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใ‚„่†œใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใฎใซๅฟ…่ฆใชPEX้บไผๅญใฎ็•ฐๅธธ๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ2ใคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹103ใ€œ105ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200578 + + 103ใ‹ใ‚‰105ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ† 103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—… Other peroxisomal diseases - + 103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—… - - 25 - ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€ง้Š…ไปฃ่ฌ็•ฐๅธธ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ่‚่‡“ใ‚’ใฏใ˜ใ‚๏ผŒๅคง่„ณๅŸบๅบ•้ƒจ๏ผŒ่ง’่†œใŠใ‚ˆใณ่…Ž่‡“ใชใฉใซ้Žๅ‰ฐใช้Š…ใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒ็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ - 2200579 - + + 25 + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€ง้Š…ไปฃ่ฌ็•ฐๅธธ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ่‚่‡“ใ‚’ใฏใ˜ใ‚๏ผŒๅคง่„ณๅŸบๅบ•้ƒจ๏ผŒ่ง’่†œใŠใ‚ˆใณ่…Ž่‡“ใชใฉใซ้Žๅ‰ฐใช้Š…ใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒ็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ + NANDO:2200579 + Wilson disease + ใ†ใƒใ‚‹ใใ‚“ใณใ‚‡ใ† ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—… + - - + Wilson็—… ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—… - - 29 - ้Š…ใฎ่…ธ็ฎกใงใฎๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€่‘—ๆ˜Žใช้Š…ๆฌ ไน้šœๅฎณใ‚’ใใŸใ™XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚Š้‡็ฏคใชไธญๆžข็ฅž็ตŒ้šœๅฎณใ€็‰นๅพด็š„ใชkinky hairใ€็ตๅˆ็น”็•ฐๅธธ๏ผˆ่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎกใฎ่„†ๅผฑใƒป่›‡่กŒใ€้ชจ็ฒ—้ฌ†็—‡ใ€็šฎ่†šใƒป้–ข็ฏ€ใฎ้Žไผธๅฑ•๏ผ‰ใ‚’ใใŸใ™ใ€‚็ฅž็ตŒ้šœๅฎณใฏ็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ๆœˆใ”ใ‚ใซ็™บ็—‡ใ™ใ‚‹ใ€‚็ฅž็ตŒ้šœๅฎณ็™บ็—‡ๅ‰ใซใƒ’ใ‚นใƒใ‚ธใƒณ้Š…็šฎไธ‹ๆณจๅฐ„ใฎๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚Œใฐใ€็ฅž็ตŒ้šœๅฎณใฏไบˆ้˜ฒใชใ„ใ—ใฏ่ปฝๆธ›ใงใใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆฒป็™‚้–‹ๅง‹ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒ้šœๅฎณใฏๅ…จใๆ”นๅ–„ใ—ใชใ„ใ€‚็–ซๅญฆ๏ผšๆˆ‘ใŒๅ›ฝใงใฎ็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ็”ทๅญ็ด„12ไธ‡ไบบใซ1ไบบใจๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ”ใใพใ‚Œใซๅฅณๅญใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ - 2200580 - + + 29 + ้Š…ใฎ่…ธ็ฎกใงใฎๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€่‘—ๆ˜Žใช้Š…ๆฌ ไน้šœๅฎณใ‚’ใใŸใ™XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚Š้‡็ฏคใชไธญๆžข็ฅž็ตŒ้šœๅฎณใ€็‰นๅพด็š„ใชkinky hairใ€็ตๅˆ็น”็•ฐๅธธ๏ผˆ่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎกใฎ่„†ๅผฑใƒป่›‡่กŒใ€้ชจ็ฒ—้ฌ†็—‡ใ€็šฎ่†šใƒป้–ข็ฏ€ใฎ้Žไผธๅฑ•๏ผ‰ใ‚’ใใŸใ™ใ€‚็ฅž็ตŒ้šœๅฎณใฏ็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ๆœˆใ”ใ‚ใซ็™บ็—‡ใ™ใ‚‹ใ€‚็ฅž็ตŒ้šœๅฎณ็™บ็—‡ๅ‰ใซใƒ’ใ‚นใƒใ‚ธใƒณ้Š…็šฎไธ‹ๆณจๅฐ„ใฎๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚Œใฐใ€็ฅž็ตŒ้šœๅฎณใฏไบˆ้˜ฒใชใ„ใ—ใฏ่ปฝๆธ›ใงใใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆฒป็™‚้–‹ๅง‹ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒ้šœๅฎณใฏๅ…จใๆ”นๅ–„ใ—ใชใ„ใ€‚็–ซๅญฆ๏ผšๆˆ‘ใŒๅ›ฝใงใฎ็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ็”ทๅญ็ด„12ไธ‡ไบบใซ1ไบบใจๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ”ใใพใ‚Œใซๅฅณๅญใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ + NANDO:2200580 + Menkes disease + ใ‚ใ‚“ใ‘ใ™ใณใ‚‡ใ† ใƒกใƒณใ‚ฑใ‚น็—… + - + Menkes็—… ใƒกใƒณใ‚ฑใ‚น็—… - - 26 - ๆœฌ็—‡ๅ€™็พคใฏใƒกใƒณใ‚ฑใ‚น็—…ใฎ่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚่ฒฌไปป่›‹็™ฝใงใ‚ใ‚‹ATP7Aใฎๆดปๆ€งใŒใ‚ใ‚‹็จ‹ๅบฆๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€็—‡็ŠถใŒใƒกใƒณใ‚ฑใ‚น็—…ใ‚ˆใ‚Š่‘—ใ—ใ่ปฝใ„ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎก่›‡่กŒใชใฉใฎ็ตๅˆ็น”็•ฐ็ŠถใŒไธป็—‡็Šถใงใ‚ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ - 2200581 - + + 26 + ๆœฌ็—‡ๅ€™็พคใฏใƒกใƒณใ‚ฑใ‚น็—…ใฎ่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚่ฒฌไปป่›‹็™ฝใงใ‚ใ‚‹ATP7Aใฎๆดปๆ€งใŒใ‚ใ‚‹็จ‹ๅบฆๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€็—‡็ŠถใŒใƒกใƒณใ‚ฑใ‚น็—…ใ‚ˆใ‚Š่‘—ใ—ใ่ปฝใ„ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎก่›‡่กŒใชใฉใฎ็ตๅˆ็น”็•ฐ็ŠถใŒไธป็—‡็Šถใงใ‚ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ + NANDO:2200581 + Occipital horn syndrome + ใŠใใ—ใดใŸใ‚‹ใƒปใปใƒผใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค + - - + ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค - - 28 - ใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ้‰„ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผŽไธญๆžข็ฅž็ตŒ๏ผŒ่‚่‡“๏ผŒ่„พ่‡“ใชใฉใ‚’ไธญๅฟƒใซๅคšๅฒใซใ‚ใŸใ‚‹่‡“ๅ™จใซ้‰„ใŒๆฒˆ็€ใ™ใ‚‹๏ผŽ - 2200582 - + + 28 + ใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ้‰„ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผŽไธญๆžข็ฅž็ตŒ๏ผŒ่‚่‡“๏ผŒ่„พ่‡“ใชใฉใ‚’ไธญๅฟƒใซๅคšๅฒใซใ‚ใŸใ‚‹่‡“ๅ™จใซ้‰„ใŒๆฒˆ็€ใ™ใ‚‹๏ผŽ + NANDO:2200582 + Aceruloplasminemia + ใ‚€ใ›ใ‚‹ใ‚ใทใ‚‰ใ™ใฟใ‚“ใ‘ใฃใ—ใ‚‡ใ† ็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡ - + + Aceruloplasminaemia ็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡ - - 24 - ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ณๅ†…ใซๆฏ’ๆ€งใฎๅผทใ„ไบœ็กซ้…ธใŒๅคง้‡ใซ่“„็ฉใ—้‡็ฏคใช่„ณ้šœๅฎณใ‚’็คบใ—ใ€่‘—ๆ˜Žใช็ฅž็ตŒ็ดฐ่ƒžใฎ่„ฑ่ฝใ‚„ๅคง่„ณ็™ฝ่ณช่„ฑ้ซ„ใ€ๅคš็™บๆ€งใฎ็ฉบๆดžๆ€ง็—…ๅค‰ใ€ใ‚ฐใƒชใ‚ชใƒผใ‚ทใ‚นใ€็šฎ่ณชๆทฑ้ƒจใฎๆตท็ถฟ็Šถๅค‰ๆ€งใจๅด่„ณๅฎคใฎๆ‹กๅคงใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใ€ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ - 2200583 - + + 24 + ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ณๅ†…ใซๆฏ’ๆ€งใฎๅผทใ„ไบœ็กซ้…ธใŒๅคง้‡ใซ่“„็ฉใ—้‡็ฏคใช่„ณ้šœๅฎณใ‚’็คบใ—ใ€่‘—ๆ˜Žใช็ฅž็ตŒ็ดฐ่ƒžใฎ่„ฑ่ฝใ‚„ๅคง่„ณ็™ฝ่ณช่„ฑ้ซ„ใ€ๅคš็™บๆ€งใฎ็ฉบๆดžๆ€ง็—…ๅค‰ใ€ใ‚ฐใƒชใ‚ชใƒผใ‚ทใ‚นใ€็šฎ่ณชๆทฑ้ƒจใฎๆตท็ถฟ็Šถๅค‰ๆ€งใจๅด่„ณๅฎคใฎๆ‹กๅคงใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใ€ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200583 + sulfite oxidase deficiency + ใ‚ใ‚Šใ‚…ใ†ใ•ใ‚“ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + - + ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 27 - ่…ธ็ฎกใ‹ใ‚‰ใฎไบœ้‰›ๅธๅŽ้šœๅฎณใ‚’็—…ๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—‡็Šถใฏ็—…ๅใฎ้€šใ‚Š็šฎ่†š็—‡็ŠถใŒไธญๅฟƒใงใ‚ใ‚‹๏ผŽ - 2200584 - + + 27 + ่…ธ็ฎกใ‹ใ‚‰ใฎไบœ้‰›ๅธๅŽ้šœๅฎณใ‚’็—…ๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—‡็Šถใฏ็—…ๅใฎ้€šใ‚Š็šฎ่†š็—‡็ŠถใŒไธญๅฟƒใงใ‚ใ‚‹๏ผŽ + NANDO:2200584 + Acrodermatitis enteropathica + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚‡ใ†ใ›ใ„ใ—ใŸใ‚“ใฒใตใˆใ‚“ ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž + + - + ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž - - 30 - ้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ไบœ้‰›ใ‚„้Š…ใชใฉใฎ้‡‘ๅฑž๏ผˆๅพฎ้‡ๅ…ƒ็ด ๏ผ‰ใฎๅธๅŽใ‚„่ปข้€ใซ้–ขใ‚ใ‚‹่›‹็™ฝ่ณชใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใ€่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹107ใ€œ112ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ้‡‘ๅฑžไปฃ่ฌใซ้šœๅฎณใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200585 - + + 30 + ้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ไบœ้‰›ใ‚„้Š…ใชใฉใฎ้‡‘ๅฑž๏ผˆๅพฎ้‡ๅ…ƒ็ด ๏ผ‰ใฎๅธๅŽใ‚„่ปข้€ใซ้–ขใ‚ใ‚‹่›‹็™ฝ่ณชใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใ€่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹107ใ€œ112ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ้‡‘ๅฑžไปฃ่ฌใซ้šœๅฎณใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200585 + + 107ใ‹ใ‚‰112ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ‚“ใžใใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ Other disorders of metal metabolism - + 107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ - - 80 - ใƒ—ใƒชใƒณใ‚ตใƒซใƒ™ใƒผใ‚ธ้…ต็ด ใงใ‚ใ‚‹ใ€ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณ-ใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆHPRT๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซใปใผๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒ—ใƒชใƒณไฝ“ใฎๅˆๆˆใŒไธŠๆ˜‡ใ—ใ€้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™ใปใ‹ใ€ไธ้šๆ„้‹ๅ‹•ใ€็ญ‹็กฌ็›ดใ€็ฒพ็ฅž้…ๆปžใ€็‰นๆœ‰ใฎ่‡ชๅ’ฌ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹X้€ฃ้Ž–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใงใ€ใพใ‚Œใซๅฅณๅ…ใฎ็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200586 - + + 80 + ใƒ—ใƒชใƒณใ‚ตใƒซใƒ™ใƒผใ‚ธ้…ต็ด ใงใ‚ใ‚‹ใ€ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณ-ใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆHPRT๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซใปใผๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒ—ใƒชใƒณไฝ“ใฎๅˆๆˆใŒไธŠๆ˜‡ใ—ใ€้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™ใปใ‹ใ€ไธ้šๆ„้‹ๅ‹•ใ€็ญ‹็กฌ็›ดใ€็ฒพ็ฅž้…ๆปžใ€็‰นๆœ‰ใฎ่‡ชๅ’ฌ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹X้€ฃ้Ž–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใงใ€ใพใ‚Œใซๅฅณๅ…ใฎ็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200586 + Lesch-Nyhan syndrome + ใฒใฝใใ•ใ‚“ใกใ‚“ใใ‚ใซใ‚“ใปใ™ใปใ‚Šใผใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + HPRT - Hypoxanthine-guanine phosphoribosyltransferase - Hypoxanthine-guanine phosphoribosyltransferaseใ€€deficiency + Hypoxanthine-guanine phosphoribosyltransferase + Hypoxanthine-guanine phosphoribosyltransferase deficiency ใƒฌใƒƒใ‚ทใƒฅใƒปใƒŠใ‚คใƒใƒณ็—‡ๅ€™็พค ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 76 - ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(APRT)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚APRTใฏใ€ใ‚ขใƒ‡ใƒ‹ใƒณใจใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒ”ใƒญใƒชใƒณ้…ธใ‚ˆใ‚Šใƒ”ใƒญใƒชใƒณ้…ธใจAMPใ‚’ๅˆๆˆใ™ใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€‚APRTใŒๆฌ ๆใ™ใ‚‹ใจใ€ใ‚ขใƒ‡ใƒ‹ใƒณใฏใ‚ญใ‚ตใƒณใƒใƒณ้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ใซใ‚ˆใ‚Š่‘—ใ—ใๆบถ่งฃๅบฆใŒไฝŽใ่…Žๆฏ’ๆ€งใŒๅผทใ„2,8-ใ‚ธใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใƒ‡ใƒ‹ใƒณ(DHA)ใซใพใงไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚APRTๆฌ ๆ็—‡ใงใฏใ€2,8-DHAใ‚’ๆˆๅˆ†ใจใ™ใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹(ๅ…จๅฐฟ่ทฏ็ต็Ÿณ็—‡ใฎ0.1๏ฝž0.2๏ผ…)ใ€‚ไนณๅนผๅ…ๆœŸใ‚„ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‹ใ‚‰่…Žไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใพใง็—‡็Šถใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ - 2200587 - + + 76 + ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(APRT)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚APRTใฏใ€ใ‚ขใƒ‡ใƒ‹ใƒณใจใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒ”ใƒญใƒชใƒณ้…ธใ‚ˆใ‚Šใƒ”ใƒญใƒชใƒณ้…ธใจAMPใ‚’ๅˆๆˆใ™ใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€‚APRTใŒๆฌ ๆใ™ใ‚‹ใจใ€ใ‚ขใƒ‡ใƒ‹ใƒณใฏใ‚ญใ‚ตใƒณใƒใƒณ้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ใซใ‚ˆใ‚Š่‘—ใ—ใๆบถ่งฃๅบฆใŒไฝŽใ่…Žๆฏ’ๆ€งใŒๅผทใ„2,8-ใ‚ธใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใƒ‡ใƒ‹ใƒณ(DHA)ใซใพใงไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚APRTๆฌ ๆ็—‡ใงใฏใ€2,8-DHAใ‚’ๆˆๅˆ†ใจใ™ใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹(ๅ…จๅฐฟ่ทฏ็ต็Ÿณ็—‡ใฎ0.1๏ฝž0.2๏ผ…)ใ€‚ไนณๅนผๅ…ๆœŸใ‚„ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‹ใ‚‰่…Žไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใพใง็—‡็Šถใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ + NANDO:2200587 + Adenine phosphoribosyltransferase deficiency + ใ‚ใงใซใ‚“ใปใ™ใปใ‚Šใผใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 78 - ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ใ‚ญใ‚ตใƒณใƒใƒณใ€ใŠใ‚ˆใณใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ๅฐฟ้…ธใธใฎไปฃ่ฌใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ญใ‚ตใƒณใƒใƒณ่„ฑๆฐด็ด ้…ต็ด ๏ผˆXDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ๅฐฟ้…ธ้…ธๆ€งไฝŽไธ‹ใ‹ใ‚‰ใฎไฝŽๅฐฟ้…ธ่ก€็—‡ใ€ๆ™‚ใจใ—ใฆใ‚ญใ‚ตใƒณใƒใƒณ็ต็Ÿณใซใ‚ˆใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚XDHๅ˜็‹ฌๆฌ ๆใฎใ‚ฟใ‚คใƒ—Iใ€ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๏ผˆMoCo๏ผ‰ใฎ็กซ้ป„ไป˜ๅŠ ใฎ้…ต็ด ใงใ‚ใ‚‹MoCo็กซๅŒ–้…ต็ด ๏ผˆMOCOS๏ผ‰ใซใ‚ˆใ‚Šใ€ใใ‚Œใ‚’ๅŸบ่ณชใจใ™ใ‚‹XDHใŠใ‚ˆใณใ‚ขใƒซใƒ‡ใƒ’ใƒ‰้…ธๅŒ–้…ต็ด ๏ผˆAO๏ผ‰ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—IIใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใจใ‚‚ใซๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใŒใ€ๅฐฟ่ทฏ็ต็Ÿณไปฅๅค–ใฎ็—‡็Šถใฏ็‰นใซ่ฆ‹ใ‚‰ใ‚ŒใšไบˆๅพŒ่‰ฏๅฅฝใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200588 - + + 78 + ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ใ‚ญใ‚ตใƒณใƒใƒณใ€ใŠใ‚ˆใณใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ๅฐฟ้…ธใธใฎไปฃ่ฌใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ญใ‚ตใƒณใƒใƒณ่„ฑๆฐด็ด ้…ต็ด ๏ผˆXDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ๅฐฟ้…ธ้…ธๆ€งไฝŽไธ‹ใ‹ใ‚‰ใฎไฝŽๅฐฟ้…ธ่ก€็—‡ใ€ๆ™‚ใจใ—ใฆใ‚ญใ‚ตใƒณใƒใƒณ็ต็Ÿณใซใ‚ˆใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚XDHๅ˜็‹ฌๆฌ ๆใฎใ‚ฟใ‚คใƒ—Iใ€ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๏ผˆMoCo๏ผ‰ใฎ็กซ้ป„ไป˜ๅŠ ใฎ้…ต็ด ใงใ‚ใ‚‹MoCo็กซๅŒ–้…ต็ด ๏ผˆMOCOS๏ผ‰ใซใ‚ˆใ‚Šใ€ใใ‚Œใ‚’ๅŸบ่ณชใจใ™ใ‚‹XDHใŠใ‚ˆใณใ‚ขใƒซใƒ‡ใƒ’ใƒ‰้…ธๅŒ–้…ต็ด ๏ผˆAO๏ผ‰ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—IIใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใจใ‚‚ใซๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใŒใ€ๅฐฟ่ทฏ็ต็Ÿณไปฅๅค–ใฎ็—‡็Šถใฏ็‰นใซ่ฆ‹ใ‚‰ใ‚ŒใšไบˆๅพŒ่‰ฏๅฅฝใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200588 + Xanthinuria + ใใ•ใ‚“ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡ - + - ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡ - - 79 - ๅฐฟ้…ธใฏใƒ’ใƒˆใงใฎใƒ—ใƒชใƒณไฝ“ไปฃ่ฌใฎๆœ€็ต‚็”ฃ็‰ฉใงใ‚ใ‚Šใ€ไฝ“ๅ†…ใฎๅฐฟ้…ธ้‡ใฏใ€ๅฐฟ้…ธใฎ็”ฃ็”ŸใจๆŽ’ๆณ„ใฎใƒใƒฉใƒณใ‚นใซใ‚ˆใ‚Š่ฆๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธใฏใ€ๅฐฟ้…ธใฎไฝ“ๅค–ใธใฎๆŽ’ๆณ„ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ๅˆ†ๅญใงใ‚ใ‚‹ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ก€ไธญใƒปๅฐฟไธญใฎๅฐฟ้…ธๆฟƒๅบฆ็•ฐๅธธใ‚’ใใŸใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅฐฟ้…ธใฎๅ†ๅธๅŽใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆURAT1ใ€URATv1/GLUT9๏ผ‰ใฎ็•ฐๅธธ๏ผˆ่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™๏ผ‰ใจใ€ๅฐฟ้…ธใฎๅˆ†ๆณŒใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆNPT4ใ€ABCG2/BCRP๏ผ‰ใฎ็•ฐๅธธ๏ผˆ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹๏ผ‰ใŒใจใ‚‚ใซ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใฎ็ด„10%ใŒๅฐฟ้…ธ็ต็Ÿณใ‚„้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใ‚’ๅ‘ˆใ—ใ€้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใฎ20~30%ใฏๅ†็™บใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฏๅฐฟ้…ธ็ต็Ÿณใ‚„็—›้ขจใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ - 2200589 - + + 79 + ๅฐฟ้…ธใฏใƒ’ใƒˆใงใฎใƒ—ใƒชใƒณไฝ“ไปฃ่ฌใฎๆœ€็ต‚็”ฃ็‰ฉใงใ‚ใ‚Šใ€ไฝ“ๅ†…ใฎๅฐฟ้…ธ้‡ใฏใ€ๅฐฟ้…ธใฎ็”ฃ็”ŸใจๆŽ’ๆณ„ใฎใƒใƒฉใƒณใ‚นใซใ‚ˆใ‚Š่ฆๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธใฏใ€ๅฐฟ้…ธใฎไฝ“ๅค–ใธใฎๆŽ’ๆณ„ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ๅˆ†ๅญใงใ‚ใ‚‹ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ก€ไธญใƒปๅฐฟไธญใฎๅฐฟ้…ธๆฟƒๅบฆ็•ฐๅธธใ‚’ใใŸใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅฐฟ้…ธใฎๅ†ๅธๅŽใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆURAT1ใ€URATv1/GLUT9๏ผ‰ใฎ็•ฐๅธธ๏ผˆ่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™๏ผ‰ใจใ€ๅฐฟ้…ธใฎๅˆ†ๆณŒใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆNPT4ใ€ABCG2/BCRP๏ผ‰ใฎ็•ฐๅธธ๏ผˆ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹๏ผ‰ใŒใจใ‚‚ใซ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใฎ็ด„10%ใŒๅฐฟ้…ธ็ต็Ÿณใ‚„้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใ‚’ๅ‘ˆใ—ใ€้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใฎ20~30%ใฏๅ†็™บใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฏๅฐฟ้…ธ็ต็Ÿณใ‚„็—›้ขจใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ + NANDO:2200589 + Genetic defects in urate transporters + ใซใ‚‡ใ†ใ•ใ‚“ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡ - + ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡ - - 77 - ใƒ”ใƒชใƒŸใ‚ธใƒณๅˆๆˆ็ณปใซใ‘ใ‚‹ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ‚ชใƒญใƒƒใƒˆ้…ธใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใจใ‚ชใƒญใƒใ‚ธใƒณ๏ผ•โ€ฒ-ใƒชใƒณ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ใฎไธกๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๅฐฟไธญใ‚ชใƒญใƒˆ้…ธใฎๅข—ๅŠ ใ€ๅฐฟไธญใ‚ชใƒญใƒใ‚ธใƒณใฎๅข—ๅŠ ใ€ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธใฎ็”ฃ็”ŸไฝŽไธ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹1)ใ€‚ - 2200590 - + + 77 + ใƒ”ใƒชใƒŸใ‚ธใƒณๅˆๆˆ็ณปใซใ‘ใ‚‹ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ‚ชใƒญใƒƒใƒˆ้…ธใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใจใ‚ชใƒญใƒใ‚ธใƒณ๏ผ•โ€ฒ-ใƒชใƒณ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ใฎไธกๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๅฐฟไธญใ‚ชใƒญใƒˆ้…ธใฎๅข—ๅŠ ใ€ๅฐฟไธญใ‚ชใƒญใƒใ‚ธใƒณใฎๅข—ๅŠ ใ€ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธใฎ็”ฃ็”ŸไฝŽไธ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹1)ใ€‚ + NANDO:2200590 + Orotic aciduria + ใŠใ‚ใจใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡ - + ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡ - - 81 - DNAใ‚„RNAใฎๆง‹ๆˆ็‰ฉ่ณชใงใ‚ใ‚‹ใƒ—ใƒชใƒณไฝ“ใจใƒ”ใƒชใƒŸใ‚ธใƒณไฝ“ใฎๅˆๆˆใ‚„่งฃใซใฏใ€็จฎใ€…ใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใŠใ‚Šใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ ธ้…ธไปฃ่ฌใ‚„ใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใจๅฏ†ๆŽฅใซ้–ข้€ฃใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใฃใฆใ€้šœๅฎณใ•ใ‚ŒใŸ้…ต็ด ใซใ‚ˆใฃใฆ็—‡็Šถใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹114ใ€œ118ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200591 - + + 81 + DNAใ‚„RNAใฎๆง‹ๆˆ็‰ฉ่ณชใงใ‚ใ‚‹ใƒ—ใƒชใƒณไฝ“ใจใƒ”ใƒชใƒŸใ‚ธใƒณไฝ“ใฎๅˆๆˆใ‚„่งฃใซใฏใ€็จฎใ€…ใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใŠใ‚Šใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ ธ้…ธไปฃ่ฌใ‚„ใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใจๅฏ†ๆŽฅใซ้–ข้€ฃใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใฃใฆใ€้šœๅฎณใ•ใ‚ŒใŸ้…ต็ด ใซใ‚ˆใฃใฆ็—‡็Šถใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹114ใ€œ118ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200591 + + 114ใ‹ใ‚‰118ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใทใ‚Šใ‚“ใดใ‚Šใฟใ˜ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ Other disorders of purine and pyrimidine metabolism - + 114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ - - 74 - ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡(HFM)ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹PCFT (proton-coupled folate transporter)ใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200592 - + + 74 + ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡(HFM)ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹PCFT (proton-coupled folate transporter)ใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200592 + Hereditary folate malabsorption + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ˆใ†ใ•ใ‚“ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ + - + ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ - - 75 - ้บไผ็š„ใช็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใฆใ€่…ธ็ฎกใ‹ใ‚‰ใฎใƒ“ใ‚ฟใƒŸใƒณ้กžใฎๅธๅŽไธๅ…จใ‚„่ปข้€้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹120ใฎๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200593 - + + 75 + ้บไผ็š„ใช็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใฆใ€่…ธ็ฎกใ‹ใ‚‰ใฎใƒ“ใ‚ฟใƒŸใƒณ้กžใฎๅธๅŽไธๅ…จใ‚„่ปข้€้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹120ใฎๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200593 + + 120ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใณใŸใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ Other disorders of vitamin metabolism - + 120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ - - 54 - ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€3็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธใ€”ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ€ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆTrp๏ผ‰ใ€•ๆฐด้…ธๅŒ–้…ต็ด ใซๅ…ฑ้€šใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชไปฃ่ฌ็•ฐๅธธใซใ‚ˆใ‚ŠBH4ใฎๆฌ ไนใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹1๏ผ‰ใ€‚ไธ€่ˆฌใซใฏ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆ้ซ˜Phe่ก€็—‡๏ผ‰ใ‚’ไผดใ†ใ‚‚ใฎใ‚’ใ•ใ—ใฆใ„ใ†ใŒใ€ๅบƒ็พฉใซใฏ้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚‚ๅซใพใ‚Œใ‚‹๏ผ’๏ผ‰ใ€‚ๅ‰่€…ใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใจ็•ฐใชใ‚Šใ€ไฝŽใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ้ฃŸใซใ‚ˆใ‚‹่ก€ๆธ…Pheๅ€คใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€้‡็—‡ใง้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็—‡็ŠถใŒ็™บ็—‡ใ™ใ‚‹ใŒใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ—ใ€็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๅพŒ่€…ใฏ็€ฌๅท็—…ใจใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใง้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ—ใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใŸใ‚ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200594 - + + 54 + ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€3็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธใ€”ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ€ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆTrp๏ผ‰ใ€•ๆฐด้…ธๅŒ–้…ต็ด ใซๅ…ฑ้€šใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชไปฃ่ฌ็•ฐๅธธใซใ‚ˆใ‚ŠBH4ใฎๆฌ ไนใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹1๏ผ‰ใ€‚ไธ€่ˆฌใซใฏ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆ้ซ˜Phe่ก€็—‡๏ผ‰ใ‚’ไผดใ†ใ‚‚ใฎใ‚’ใ•ใ—ใฆใ„ใ†ใŒใ€ๅบƒ็พฉใซใฏ้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚‚ๅซใพใ‚Œใ‚‹๏ผ’๏ผ‰ใ€‚ๅ‰่€…ใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใจ็•ฐใชใ‚Šใ€ไฝŽใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ้ฃŸใซใ‚ˆใ‚‹่ก€ๆธ…Pheๅ€คใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€้‡็—‡ใง้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็—‡็ŠถใŒ็™บ็—‡ใ™ใ‚‹ใŒใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ—ใ€็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๅพŒ่€…ใฏ็€ฌๅท็—…ใจใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใง้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ—ใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใŸใ‚ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200594 + + BH4ๆฌ ๆ็—‡ Tetrahydrobiopterin deficiency - ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ + ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - - ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ - - - 52 - ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆTH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใ‚’L-ใƒ‰ใƒผใƒ‘ใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใชใฉใฎใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณใฎๅ…จ่ˆฌใฎๅˆๆˆใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚่„ณๅ†…ใงใฏ้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใŒ็™บ็—‡ใ—ใ€L-DOPAใซๅๅฟœใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใŒใ€้€ฒ่กŒๆ€งใฎ่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒไธปไฝ“ใ‚’ๅ ใ‚ใ‚‹ใ€‚ - 2200595 - + + ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ + + BH4ๆฌ ๆ็—‡ + + + 52 + ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆTH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใ‚’L-ใƒ‰ใƒผใƒ‘ใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใชใฉใฎใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณใฎๅ…จ่ˆฌใฎๅˆๆˆใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚่„ณๅ†…ใงใฏ้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใŒ็™บ็—‡ใ—ใ€L-DOPAใซๅๅฟœใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใŒใ€้€ฒ่กŒๆ€งใฎ่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒไธปไฝ“ใ‚’ๅ ใ‚ใ‚‹ใ€‚ + NANDO:2200595 + Tyrosine hydroxylase deficiency + ใกใ‚ใ—ใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - + ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 55 - AADCๆฌ ๆ็—‡ใฏ๏ผฌ-ใƒ‰ใƒผใƒ‘ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณ๏ผˆ5HT๏ผ‰ใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ้บไผๅญ๏ผˆDDC๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1990ๅนดใ‚คใ‚ฎใƒชใ‚นใฎHylandใ‚‰ใซใ‚ˆใฃใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ1๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžใŠใ‚ˆใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎHVAใŠใ‚ˆใณ๏ผ•HIAAใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎใชใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚ - 2200596 - + + 55 + AADCๆฌ ๆ็—‡ใฏ๏ผฌ-ใƒ‰ใƒผใƒ‘ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณ๏ผˆ5HT๏ผ‰ใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ้บไผๅญ๏ผˆDDC๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1990ๅนดใ‚คใ‚ฎใƒชใ‚นใฎHylandใ‚‰ใซใ‚ˆใฃใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ1๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžใŠใ‚ˆใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎHVAใŠใ‚ˆใณ๏ผ•HIAAใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎใชใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚ + NANDO:2200596 + Aromatic L-amino acid decarboxylase deficiency + ใปใ†ใ“ใ†ใžใใˆใ‚‹ใ‚ใฟใฎใ•ใ‚“ใ ใคใŸใ‚“ใ•ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡ + - + ่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡ - - 53 - ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒๆฐด้…ธๅŒ–้…ต็ด ๏ผˆDBH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ‚’ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ไบคๆ„Ÿ็ฅž็ตŒNAไฝœๅ‹•ๆ€งๆฉŸ่ƒฝใฎๆฌ ๅฆ‚ใซใ‚ˆใ‚Š่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹้žๅธธใซใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซๅฟƒ่ก€็ฎก็–พๆ‚ฃใ€้‡ๅบฆใฎ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎ็•ฐๅธธใฏๅ‘จ็”ฃๆœŸใ‹ใ‚‰ๅง‹ใพใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใงใฏNAใ€ใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใฎไธก่€…ใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ไฝŽไฝ“ๆธฉใ€ไฝŽ่ก€ๅœงใ€ไฝŽ่ก€็ณ–ใชใฉ่ค‡้›‘ใช่‡ช็ซ‹็ฅž็ตŒ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200597 - + + 53 + ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒๆฐด้…ธๅŒ–้…ต็ด ๏ผˆDBH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ‚’ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ไบคๆ„Ÿ็ฅž็ตŒNAไฝœๅ‹•ๆ€งๆฉŸ่ƒฝใฎๆฌ ๅฆ‚ใซใ‚ˆใ‚Š่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹้žๅธธใซใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซๅฟƒ่ก€็ฎก็–พๆ‚ฃใ€้‡ๅบฆใฎ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎ็•ฐๅธธใฏๅ‘จ็”ฃๆœŸใ‹ใ‚‰ๅง‹ใพใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใงใฏNAใ€ใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใฎไธก่€…ใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ไฝŽไฝ“ๆธฉใ€ไฝŽ่ก€ๅœงใ€ไฝŽ่ก€็ณ–ใชใฉ่ค‡้›‘ใช่‡ช็ซ‹็ฅž็ตŒ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200597 + Dopamine beta hydroxylase deficiency + ใฉใƒผใฑใฟใ‚“ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - + ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ - - 50 - ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎไปฃ่ฌใซใ‹ใ‹ใ‚ใ‚‹GABAใƒˆใƒฉใƒณใ‚นใ‚ขใƒŸใƒŠใƒผใ‚ผ๏ผˆGABAT๏ผ‰ใฎๆฌ ๆ็—‡ใฏใ€้‡็—‡ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใจ็™บ้”้…ๅปถใ‚’่ชใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใใ‚ใ‚ใฆใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ใ‚ใŒๅ›ฝใฎ๏ผ‘ไพ‹ใ‚’ๅซใ‚€ไธ–็•Œใง๏ผ“ๅฎถ็ณป4ไพ‹ใ—ใ‹ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚ - 2200598 - + + 50 + ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎไปฃ่ฌใซใ‹ใ‹ใ‚ใ‚‹GABAใƒˆใƒฉใƒณใ‚นใ‚ขใƒŸใƒŠใƒผใ‚ผ๏ผˆGABAT๏ผ‰ใฎๆฌ ๆ็—‡ใฏใ€้‡็—‡ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใจ็™บ้”้…ๅปถใ‚’่ชใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใใ‚ใ‚ใฆใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ใ‚ใŒๅ›ฝใฎ๏ผ‘ไพ‹ใ‚’ๅซใ‚€ไธ–็•Œใง๏ผ“ๅฎถ็ณป4ไพ‹ใ—ใ‹ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚ + NANDO:2200598 + GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡ Gamma-amino butyrate aminotransferase deficiency + ใŽใ‚ƒใฐใ‚ใฟใฎใใฆใ‚“ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡ - - 51 - ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๏ผˆSSADH๏ผ‰ๆฌ ๆ็—‡ใฏ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ไผดใ†ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚SSADHใฎๆฌ ๆใงGABAใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰๏ผˆSSA๏ผ‰ใŒใ‚ณใƒใ‚ฏ้…ธใซๅค‰ๆ›ใ•ใ‚Œใชใ„ใŸใ‚ใ€SSAใฎๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚‹ใŒใ€SSAใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท้…ช้…ธ๏ผˆGHB๏ผ‰ใซไปฃ่ฌใ•ใ‚ŒๅฐฟไธญใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใŸใ‚GHBๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚GHBๅฐฟ็—‡ใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ž็‰น็•ฐ็š„ใช็ฅž็ตŒ็—‡็ŠถใŒๅคšใ„ใŸใ‚ใ€ๅฎŸ้š›ใซใฏๆญฃ็ขบใช่จบๆ–ญใ‚’ๅ—ใ‘ใฆใ„ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ - 2200599 - + + 51 + ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๏ผˆSSADH๏ผ‰ๆฌ ๆ็—‡ใฏ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ไผดใ†ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚SSADHใฎๆฌ ๆใงGABAใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰๏ผˆSSA๏ผ‰ใŒใ‚ณใƒใ‚ฏ้…ธใซๅค‰ๆ›ใ•ใ‚Œใชใ„ใŸใ‚ใ€SSAใฎๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚‹ใŒใ€SSAใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท้…ช้…ธ๏ผˆGHB๏ผ‰ใซไปฃ่ฌใ•ใ‚ŒๅฐฟไธญใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใŸใ‚GHBๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚GHBๅฐฟ็—‡ใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ž็‰น็•ฐ็š„ใช็ฅž็ตŒ็—‡็ŠถใŒๅคšใ„ใŸใ‚ใ€ๅฎŸ้š›ใซใฏๆญฃ็ขบใช่จบๆ–ญใ‚’ๅ—ใ‘ใฆใ„ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ + NANDO:2200599 + Succinic semialdehyde dehydrogenase deficiency + ใ“ใฏใใ•ใ‚“ใ›ใฟใ‚ใ‚‹ใงใฒใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - + ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ - - 56 - ็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ใฏใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็”Ÿๅˆๆˆใƒปไปฃ่ฌใƒป็•ฐๅŒ–ใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใ‹ใ‚‰ไนณๅนผๅ…ๆœŸใฎใ€็ฅž็ตŒ็ดฐ่ƒžใŒๅˆ†ๅŒ–ใ—ใฆใƒใƒƒใƒˆใƒฏใƒผใ‚ฏใ‚’ๅฝขๆˆใ—ใฆใ„ใๆ™‚ๆœŸใซ็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ€็ฅž็ตŒ็™บ้”ใซ้‡ๅคงใช็•ฐๅธธใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹122ใ€œ127ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎไปฃ่ฌใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ฅž็ตŒ็™บ้”ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200600 - + + 56 + ็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ใฏใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็”Ÿๅˆๆˆใƒปไปฃ่ฌใƒป็•ฐๅŒ–ใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใ‹ใ‚‰ไนณๅนผๅ…ๆœŸใฎใ€็ฅž็ตŒ็ดฐ่ƒžใŒๅˆ†ๅŒ–ใ—ใฆใƒใƒƒใƒˆใƒฏใƒผใ‚ฏใ‚’ๅฝขๆˆใ—ใฆใ„ใๆ™‚ๆœŸใซ็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ€็ฅž็ตŒ็™บ้”ใซ้‡ๅคงใช็•ฐๅธธใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹122ใ€œ127ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎไปฃ่ฌใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ฅž็ตŒ็™บ้”ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200600 + + 122ใ‹ใ‚‰127ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ‚“ใ‘ใ„ใงใ‚“ใŸใคใถใฃใ—ใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ Other disorder of neurotransmitter metabolism and transport - + 122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ - - 36 - ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎ็•ฐๅŒ–้šœๅฎณใซใ‚ˆใ‚Š้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰๏ผˆTG๏ผ‰่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็šฎ่†š็™บ็–นๆ€ง้ป„่‰ฒ่…ซใ‚„ๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผฃIIๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€งVๅž‹้ซ˜่„‚่ก€็—‡ใ€ใใฎไป–ใฎ้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŒ๏ผ’๏ผ‰ - 2200601 - - Primary hyperchylomicronaemia + + 36 + ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎ็•ฐๅŒ–้šœๅฎณใซใ‚ˆใ‚Š้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰๏ผˆTG๏ผ‰่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็šฎ่†š็™บ็–นๆ€ง้ป„่‰ฒ่…ซใ‚„ๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผฃIIๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€งVๅž‹้ซ˜่„‚่ก€็—‡ใ€ใใฎไป–ใฎ้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŒ๏ผ’๏ผ‰ + NANDO:2200601 + + Primary hyperchylomicronemia + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ„ใ‚ใฟใใ‚ใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ - + - + + Primary hyperchylomicronaemia + ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ - - 34 - ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆFH๏ผ‰ใฏใ€ไฝŽๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆLDL๏ผ‰ๅ—ๅฎนไฝ“ใพใŸใฏ้–ข้€ฃใ™ใ‚‹้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚FHใงใฏLDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่ก€ไธญใƒฌใƒ™ใƒซใŒใใ‚ใ‚ใฆ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ๅ‹•่„ˆ็กฌๅŒ–ใฎ้žๅธธใซ้ซ˜ใ„ใƒชใ‚นใ‚ฏใจใชใ‚‹ใ€‚่‹ฅๅนดใง็‹ญๅฟƒ็—‡ใ‚„ๅฟƒ็ญ‹ๆข—ๅกžใ‚’็™บ็—‡ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚ - 2200602 - - Familial hypercholesterolaemia + + 34 + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆFH๏ผ‰ใฏใ€ไฝŽๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆLDL๏ผ‰ๅ—ๅฎนไฝ“ใพใŸใฏ้–ข้€ฃใ™ใ‚‹้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚FHใงใฏLDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่ก€ไธญใƒฌใƒ™ใƒซใŒใใ‚ใ‚ใฆ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ๅ‹•่„ˆ็กฌๅŒ–ใฎ้žๅธธใซ้ซ˜ใ„ใƒชใ‚นใ‚ฏใจใชใ‚‹ใ€‚่‹ฅๅนดใง็‹ญๅฟƒ็—‡ใ‚„ๅฟƒ็ญ‹ๆข—ๅกžใ‚’็™บ็—‡ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚ + NANDO:2200602 + + Familial hypercholesterolemia + ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ + - + + FH + Familial hypercholesterolaemia + + + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ - - 35 - ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡๏ผˆFCHL๏ผ‰ใฏใ€่ก€ไธญ็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆTC๏ผ‰ใจTGใฎไธกๆ–นใŒ้ซ˜ๅ€คใจใชใ‚‹็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใจใ•ใ‚Œใฆใ„ใ‚‹ใŒ่ค‡ๆ•ฐใฎ้บไผๅญ็•ฐๅธธใŒใ‹ใ‹ใ‚ใฃใฆใ„ใ‚‹ใ€‚่‹ฅๅนดใงใฎๅฟƒ็ญ‹ๆข—ๅกžใฎ็™บ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€65ๆญณไปฅไธ‹ใฎๅฟƒ็ญ‹ๆข—ๅกžๆ‚ฃ่€…ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆ30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹๏ผ‘๏ผŒ๏ผ’๏ผ‰ใ€‚ - 2200603 - - Familial combined hyperlipidaemia + + 35 + ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡๏ผˆFCHL๏ผ‰ใฏใ€่ก€ไธญ็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆTC๏ผ‰ใจTGใฎไธกๆ–นใŒ้ซ˜ๅ€คใจใชใ‚‹็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใจใ•ใ‚Œใฆใ„ใ‚‹ใŒ่ค‡ๆ•ฐใฎ้บไผๅญ็•ฐๅธธใŒใ‹ใ‹ใ‚ใฃใฆใ„ใ‚‹ใ€‚่‹ฅๅนดใงใฎๅฟƒ็ญ‹ๆข—ๅกžใฎ็™บ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€65ๆญณไปฅไธ‹ใฎๅฟƒ็ญ‹ๆข—ๅกžๆ‚ฃ่€…ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆ30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹๏ผ‘๏ผŒ๏ผ’๏ผ‰ใ€‚ + NANDO:2200603 + + Familial combined hyperlipidemia + ใ‹ใžใใ›ใ„ใตใใ”ใ†ใŒใŸใ“ใ†ใ—ใ‘ใฃใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡ - + + FCHL + Familial combined hyperlipidaemia ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡ - - 38 - ใƒชใƒ่›‹็™ฝ็ฒ’ๅญๅฝขๆˆใซ้–ขไธŽใ™ใ‚‹ใƒŸใ‚ฏใƒญใ‚ฝใƒผใƒ ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ปข้€่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่…ธใงๅธๅŽใ•ใ‚ŒใŸ้ฃŸไบ‹ๆ€ง่„‚่‚ชใฏใƒชใƒ่›‹็™ฝใจใ—ใฆ่ปข้€ใ•ใ‚Œใšใซ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใ€่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚‹ไธ‹็—ขใ€่„‚่‚ชไพฟใจใชใ‚Š่…น็—›ใ€ๆˆ้•ท้šœๅฎณใชใฉใ‚’ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹็ฅž็ตŒ็—‡็Šถใ€็™บ้”้…ๆปžใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸ่„‚่‚ชใ‚‚ๅ…จ่บซใซ่ปข้€ใ•ใ‚Œใ‚‹ใ“ใจใชใ่„‚่‚ช่‚ใจใชใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚ - 2200604 - + + 38 + ใƒชใƒ่›‹็™ฝ็ฒ’ๅญๅฝขๆˆใซ้–ขไธŽใ™ใ‚‹ใƒŸใ‚ฏใƒญใ‚ฝใƒผใƒ ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ปข้€่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่…ธใงๅธๅŽใ•ใ‚ŒใŸ้ฃŸไบ‹ๆ€ง่„‚่‚ชใฏใƒชใƒ่›‹็™ฝใจใ—ใฆ่ปข้€ใ•ใ‚Œใšใซ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใ€่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚‹ไธ‹็—ขใ€่„‚่‚ชไพฟใจใชใ‚Š่…น็—›ใ€ๆˆ้•ท้šœๅฎณใชใฉใ‚’ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹็ฅž็ตŒ็—‡็Šถใ€็™บ้”้…ๆปžใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸ่„‚่‚ชใ‚‚ๅ…จ่บซใซ่ปข้€ใ•ใ‚Œใ‚‹ใ“ใจใชใ่„‚่‚ช่‚ใจใชใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚ + NANDO:2200604 + Abetalipoproteinemia - ็„กฮฒ-ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ + ใ‚€ในใƒผใŸใ‚ŠใฝใŸใ‚“ใฑใใ‘ใฃใ—ใ‚‡ใ† + ็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ + - + + Abetalipoproteinaemia - ็„กฮฒ-ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ + ็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ - - 37 - ้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆHDL๏ผ‰ใŒๆฌ ๆใพใŸใฏไฝŽไธ‹ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ใ“ใ“ใงใฏใ€ๅŽŸ็™บๆ€ง๏ผˆ้บไผๆ€ง๏ผ‰ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆHDL-C๏ผ‰ใฎไฝŽไธ‹ใซใฏใ€HDLใฎ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ๅ ดๅˆใ€ๆˆ็†ŸใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ ดๅˆใ€็•ฐๅŒ–ใŒๆ›ดๆ–ฐใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚็พๅœจใ€ไปฅไธ‹ใฎ็–พๆ‚ฃใŒไธป่ฆใชใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚้ ปๅบฆใฏๅธŒใงใ‚ใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚๏ผ‘๏ผŽlecithin-cholesterol acyltransferase๏ผˆLCAT๏ผ‰ๆฌ ๆ็—‡๏ผ“๏ผ‰ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใชLCATใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ๅฎถๆ—ๆ€งLCATๆฌ ๆ็—‡ใจ้ญš็œผ็—…ใฎ็•ฐใชใ‚‹่กจ็พๅž‹ใ‚’ๅ‘ˆใ™ใ‚‹๏ผˆLCATๆดปๆ€งใฎๅทฎใซใ‚ˆใ‚‹๏ผ‰ใ€‚ๅนผๅฐ‘ๅ…ใ‚ˆใ‚Šๅ‡บ็พใ™ใ‚‹่ง’่†œๆททๆฟใจไฝŽHDL-C่ก€็—‡ใฏๅ…ฑ้€šใ™ใ‚‹ใ€‚ๅพŒ่€…ใฏใ“ใ‚Œใฎใฟใงใ‚ใ‚‹ใŒใ€ๅ‰่€…ใฏ่ตค่ก€็ƒใฎๅฝขๆ…‹็•ฐๅธธ๏ผˆๆบถ่ก€ๆ€ง่ฒง่ก€๏ผ‰ใƒป่›‹็™ฝๅฐฟ๏ผˆ่…Ž้šœๅฎณ๏ผ‰ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚HDL-Cใฏๆญฃๅธธใฎ1/10็จ‹ๅบฆใจใ•ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็ขบๅฎš่จบๆ–ญใซใฏใ€LCATๆดปๆ€ง๏ผˆ่›‹็™ฝ๏ผ‰ใฎๆธฌๅฎšใ‚„้บไผๅญๅค‰็•ฐใ‚’ๅŒๅฎšใ™ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚๏ผ’๏ผŽใ‚ฟใƒณใ‚ธใƒผใƒซ๏ผˆTangier๏ผ‰็—…๏ผ”๏ผ‰ใ‚ขใƒA-โ… ใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซ้‡่ฆใชATP-binding cassette transporter 1 (ABCA1)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใฎ้Žๅ‰ฐ่“„็ฉใซใ‚ˆใ‚‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ€่ง’่†œๆททๆฟใ€่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€็Ÿฅ่ฆš้šœๅฎณใ‚’็คบใ™ใ€‚HDL-Cใ€ใ‚ขใƒA-โ… ใฎไฝŽไธ‹ใ€ใƒ—ใƒญใ‚ขใƒA-โ… ใฎๅข—ๅŠ ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฏๆญฃๅธธใ€‚้บไผๅญ่งฃๆžใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚๏ผ“๏ผŽใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-โ… ๆฌ ๆ็—‡ใƒป็•ฐๅธธ็—‡๏ผ•๏ผ‰ใ‚ขใƒ A-โ… ใฏHDLใฎๆง‹ๆˆใ‚ขใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-โ… ใจใจใ‚‚ใซC-โ…ขใ€A-โ…คใ‚’ๆฌ ๆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅฎŒๅ…จใชๆฌ ๆ็—‡ใจๅค‰็•ฐไฝ“ใจใ—ใฆๆคœๅ‡บใ•ใ‚Œใ‚‹็•ฐๅธธ็—‡ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บๆ€งใŒใ‚ใ‚‹ใ€‚HDL-Cใ€ใ‚ขใƒAใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ‚„ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚„่…Ž้šœๅฎณใฏใชใ„ใ€‚ๅ‹•่„ˆ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฎไบˆ้˜ฒใจใƒใ‚งใƒƒใ‚ฏใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ใ‚ขใƒA-1ใฎๅค‰็•ฐใฎไธ€้ƒจใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200605 - + + 37 + ้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆHDL๏ผ‰ใŒๆฌ ๆใพใŸใฏไฝŽไธ‹ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ใ“ใ“ใงใฏใ€ๅŽŸ็™บๆ€ง๏ผˆ้บไผๆ€ง๏ผ‰ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆHDL-C๏ผ‰ใฎไฝŽไธ‹ใซใฏใ€HDLใฎ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ๅ ดๅˆใ€ๆˆ็†ŸใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ ดๅˆใ€็•ฐๅŒ–ใŒๆ›ดๆ–ฐใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚็พๅœจใ€ไปฅไธ‹ใฎ็–พๆ‚ฃใŒไธป่ฆใชใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚้ ปๅบฆใฏๅธŒใงใ‚ใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚๏ผ‘๏ผŽlecithin-cholesterol acyltransferase๏ผˆLCAT๏ผ‰ๆฌ ๆ็—‡๏ผ“๏ผ‰ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใชLCATใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ๅฎถๆ—ๆ€งLCATๆฌ ๆ็—‡ใจ้ญš็œผ็—…ใฎ็•ฐใชใ‚‹่กจ็พๅž‹ใ‚’ๅ‘ˆใ™ใ‚‹๏ผˆLCATๆดปๆ€งใฎๅทฎใซใ‚ˆใ‚‹๏ผ‰ใ€‚ๅนผๅฐ‘ๅ…ใ‚ˆใ‚Šๅ‡บ็พใ™ใ‚‹่ง’่†œๆททๆฟใจไฝŽHDL-C่ก€็—‡ใฏๅ…ฑ้€šใ™ใ‚‹ใ€‚ๅพŒ่€…ใฏใ“ใ‚Œใฎใฟใงใ‚ใ‚‹ใŒใ€ๅ‰่€…ใฏ่ตค่ก€็ƒใฎๅฝขๆ…‹็•ฐๅธธ๏ผˆๆบถ่ก€ๆ€ง่ฒง่ก€๏ผ‰ใƒป่›‹็™ฝๅฐฟ๏ผˆ่…Ž้šœๅฎณ๏ผ‰ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚HDL-Cใฏๆญฃๅธธใฎ1/10็จ‹ๅบฆใจใ•ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็ขบๅฎš่จบๆ–ญใซใฏใ€LCATๆดปๆ€ง๏ผˆ่›‹็™ฝ๏ผ‰ใฎๆธฌๅฎšใ‚„้บไผๅญๅค‰็•ฐใ‚’ๅŒๅฎšใ™ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚๏ผ’๏ผŽใ‚ฟใƒณใ‚ธใƒผใƒซ๏ผˆTangier๏ผ‰็—…๏ผ”๏ผ‰ใ‚ขใƒA-โ… ใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซ้‡่ฆใชATP-binding cassette transporter 1 (ABCA1)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใฎ้Žๅ‰ฐ่“„็ฉใซใ‚ˆใ‚‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ€่ง’่†œๆททๆฟใ€่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€็Ÿฅ่ฆš้šœๅฎณใ‚’็คบใ™ใ€‚HDL-Cใ€ใ‚ขใƒA-โ… ใฎไฝŽไธ‹ใ€ใƒ—ใƒญใ‚ขใƒA-โ… ใฎๅข—ๅŠ ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฏๆญฃๅธธใ€‚้บไผๅญ่งฃๆžใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚๏ผ“๏ผŽใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-โ… ๆฌ ๆ็—‡ใƒป็•ฐๅธธ็—‡๏ผ•๏ผ‰ใ‚ขใƒ A-โ… ใฏHDLใฎๆง‹ๆˆใ‚ขใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-โ… ใจใจใ‚‚ใซC-โ…ขใ€A-โ…คใ‚’ๆฌ ๆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅฎŒๅ…จใชๆฌ ๆ็—‡ใจๅค‰็•ฐไฝ“ใจใ—ใฆๆคœๅ‡บใ•ใ‚Œใ‚‹็•ฐๅธธ็—‡ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บๆ€งใŒใ‚ใ‚‹ใ€‚HDL-Cใ€ใ‚ขใƒAใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ‚„ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚„่…Ž้šœๅฎณใฏใชใ„ใ€‚ๅ‹•่„ˆ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฎไบˆ้˜ฒใจใƒใ‚งใƒƒใ‚ฏใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ใ‚ขใƒA-1ใฎๅค‰็•ฐใฎไธ€้ƒจใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200605 + HDL deficiency + ใ“ใ†ใฒใ˜ใ‚…ใ†ใ‚ŠใฝใŸใ‚“ใฑใใ‘ใคใผใ†ใ—ใ‚‡ใ† ้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡ - + HDLๆฌ ไน็—‡ + ้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡ - - 39 - ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่ก€ไธญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰ใฎ็•ฐๅธธ้ซ˜ๅ€คใ€ใ‚ใ‚‹ใ„ใฏ็•ฐๅธธไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณชใฎ้Žๅ‰ฐ่“„็ฉใ‚„ไฝŽไธ‹ใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹129ใ€œ133ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€่ก€ๆธ…่„‚่ณชใ‚„ใƒชใƒ่›‹็™ฝใฎไปฃ่ฌ็ณปใซ้–ข้€ฃใ™ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆๅŽŸ็™บๆ€งใฎ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚ - 2200606 - + + 39 + ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่ก€ไธญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰ใฎ็•ฐๅธธ้ซ˜ๅ€คใ€ใ‚ใ‚‹ใ„ใฏ็•ฐๅธธไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณชใฎ้Žๅ‰ฐ่“„็ฉใ‚„ไฝŽไธ‹ใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹129ใ€œ133ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€่ก€ๆธ…่„‚่ณชใ‚„ใƒชใƒ่›‹็™ฝใฎไปฃ่ฌ็ณปใซ้–ข้€ฃใ™ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆๅŽŸ็™บๆ€งใฎ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚ + NANDO:2200606 + + 129ใ‹ใ‚‰133ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ Other disorder of lipid metabolism - + 129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ - - 31 - ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็”ฃ็”Ÿใ‚ใ‚‹ใ„ใฏๆˆ็†ŸใซใŠใ‘ใ‚‹ๅ…ˆๅคฉ็š„้šœๅฎณใซใ‚ˆใ‚Š็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใ‚’็”Ÿใ˜ใ‚‹ไธ€้€ฃใฎ้บไผๆ€ง็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚6็จฎใฎ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅคๅ…ธๅž‹๏ผš Vๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL5A1 COL5Aใ€€้–ข็ฏ€ใฎ้Žไผธๅฑ•ใ€ๅ‰ตๅ‚ทๆฒป็™’้…ๅปถใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้–ข็ฏ€ๅž‹๏ผšๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใŒใ€ๅŽŸๅ› ้บไผๅญใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆŸ”ใ‚‰ใ‹ใ„็šฎ่†šใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’่ชใ‚ใ‚‹ใ€‚่ก€็ฎกๅž‹๏ผš โ…ขๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL3A1ใ€€่–„ใ„้€้Žๆ€งใฎ็šฎ่†šใ€ๅ‹•่„ˆใƒป่…ธ็ฎกใƒปๅญๅฎฎ็ ด่ฃ‚ใ€ๆ˜“ๅ‡บ่ก€ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ๅพŒๅดๅฝŽๅž‹๏ผš ใƒชใ‚ธใƒณใƒใ‚คใƒ‰ใƒญใ‚ชใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ๆฌ ๆใŒๅŽŸๅ› ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ…จ่บซๆ€งๅผ›็ทฉๆ€ง้–ข็ฏ€ใ€ๅ…ˆๅคฉๆ€ง้€ฒ่กŒๆ€ง่„ŠๆคŽๅพŒๅดๅฝŽใ€็œผ็ƒ็ ด่ฃ‚ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹๏ผšIๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผๅˆ‡ๆ–ญ้ƒจไฝใฎ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL1A1 COL1A2 ๅๅพฉๆ€งไบœ่„ฑ่‡ผใ‚’ไผดใ„ๅ…จ่บซๆ€งใฎ้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ€ไธกๅดๅ…ˆๅคฉๆ€ง่‚ก้–ข็ฏ€่„ฑ่‡ผใ‚’่ชใ‚ใ‚‹ใ€‚็šฎ่†šๅผ›็ทฉๅž‹๏ผšใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผใฎๆฌ ๆใŒๅŽŸๅ› ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ๅŽŸๅ› ้บไผๅญใฏใ€ADAMTS2ใ€€็šฎ่†šใฎ่„†ๅผฑๆ€งใ€ใŸใ‚‹ใ‚“ใ ็šฎ่†šใ‚’่ชใ‚ใ‚‹ใ€‚ - 2200607 - + + 31 + ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็”ฃ็”Ÿใ‚ใ‚‹ใ„ใฏๆˆ็†ŸใซใŠใ‘ใ‚‹ๅ…ˆๅคฉ็š„้šœๅฎณใซใ‚ˆใ‚Š็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใ‚’็”Ÿใ˜ใ‚‹ไธ€้€ฃใฎ้บไผๆ€ง็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚6็จฎใฎ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅคๅ…ธๅž‹๏ผš Vๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL5A1 COL5Aใ€€้–ข็ฏ€ใฎ้Žไผธๅฑ•ใ€ๅ‰ตๅ‚ทๆฒป็™’้…ๅปถใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้–ข็ฏ€ๅž‹๏ผšๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใŒใ€ๅŽŸๅ› ้บไผๅญใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆŸ”ใ‚‰ใ‹ใ„็šฎ่†šใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’่ชใ‚ใ‚‹ใ€‚่ก€็ฎกๅž‹๏ผš โ…ขๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL3A1ใ€€่–„ใ„้€้Žๆ€งใฎ็šฎ่†šใ€ๅ‹•่„ˆใƒป่…ธ็ฎกใƒปๅญๅฎฎ็ ด่ฃ‚ใ€ๆ˜“ๅ‡บ่ก€ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ๅพŒๅดๅฝŽๅž‹๏ผš ใƒชใ‚ธใƒณใƒใ‚คใƒ‰ใƒญใ‚ชใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ๆฌ ๆใŒๅŽŸๅ› ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ…จ่บซๆ€งๅผ›็ทฉๆ€ง้–ข็ฏ€ใ€ๅ…ˆๅคฉๆ€ง้€ฒ่กŒๆ€ง่„ŠๆคŽๅพŒๅดๅฝŽใ€็œผ็ƒ็ ด่ฃ‚ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹๏ผšIๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผๅˆ‡ๆ–ญ้ƒจไฝใฎ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL1A1 COL1A2 ๅๅพฉๆ€งไบœ่„ฑ่‡ผใ‚’ไผดใ„ๅ…จ่บซๆ€งใฎ้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ€ไธกๅดๅ…ˆๅคฉๆ€ง่‚ก้–ข็ฏ€่„ฑ่‡ผใ‚’่ชใ‚ใ‚‹ใ€‚็šฎ่†šๅผ›็ทฉๅž‹๏ผšใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผใฎๆฌ ๆใŒๅŽŸๅ› ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ๅŽŸๅ› ้บไผๅญใฏใ€ADAMTS2ใ€€็šฎ่†šใฎ่„†ๅผฑๆ€งใ€ใŸใ‚‹ใ‚“ใ ็šฎ่†šใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:2200607 + Ehlers-Danlos syndrome + ใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + - + + EDS Ehlers-Danlos็—‡ๅ€™็พค ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค - - 32 - ใƒ’ใ‚ขใƒชใƒณๆง˜็‰ฉ่ณชใŒ็šฎ่†šใ‚„็ฒ˜่†œใซๆฒˆ็€ใ™ใ‚‹ใ€‚็‰นๅพด็š„ๆ‰€่ฆ‹ใจใ—ใฆใ€็œผ็žผ็ธใซๅฐไธ˜็–นใŒ็œŸ็ ใฎ้ฆ–ใ‹ใ–ใ‚Š็Šถใซไธ€ๅˆ—ใซไธฆใถใ€‚่‚˜ใชใฉใซ็–ฃ่ด…็Šถใฎ็ต็ฏ€ใ‚„ไธ˜็–นใ€ๅฃ่…”ๅ†…ใซ็™ฝ่‰ฒ็ต็ฏ€ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅฃฐ้–€ใซ็ต็ฏ€ใŒใงใใ‚‹ใจๅ—„ๅฃฐใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€extracellular matrix protein 1(ECM1)้บไผๅญใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200608 - + + 32 + ใƒ’ใ‚ขใƒชใƒณๆง˜็‰ฉ่ณชใŒ็šฎ่†šใ‚„็ฒ˜่†œใซๆฒˆ็€ใ™ใ‚‹ใ€‚็‰นๅพด็š„ๆ‰€่ฆ‹ใจใ—ใฆใ€็œผ็žผ็ธใซๅฐไธ˜็–นใŒ็œŸ็ ใฎ้ฆ–ใ‹ใ–ใ‚Š็Šถใซไธ€ๅˆ—ใซไธฆใถใ€‚่‚˜ใชใฉใซ็–ฃ่ด…็Šถใฎ็ต็ฏ€ใ‚„ไธ˜็–นใ€ๅฃ่…”ๅ†…ใซ็™ฝ่‰ฒ็ต็ฏ€ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅฃฐ้–€ใซ็ต็ฏ€ใŒใงใใ‚‹ใจๅ—„ๅฃฐใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€extracellular matrix protein 1(ECM1)้บไผๅญใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200608 + Lipoid proteinosis + ใ‚Šใฝใ„ใฉใŸใ‚“ใฑใใ—ใ‚‡ใ† ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡ - + ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡ - - 33 - ็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ใฏใ€ใ‚ณใƒฉใƒผใ‚ฒใƒณใ€้ชจๅŸบ่ณชใชใฉใฎไปฃ่ฌใซ้–ขไฟ‚ใ™ใ‚‹้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็šฎ่†šใ€้–ข็ฏ€ใ€้ชจใซๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹135ใ€œ138ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ตๅˆ็น”ใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200609 - + + 33 + ็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ใฏใ€ใ‚ณใƒฉใƒผใ‚ฒใƒณใ€้ชจๅŸบ่ณชใชใฉใฎไปฃ่ฌใซ้–ขไฟ‚ใ™ใ‚‹้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็šฎ่†šใ€้–ข็ฏ€ใ€้ชจใซๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹135ใ€œ138ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ตๅˆ็น”ใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200609 + + 135ใŠใ‚ˆใณ136ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใคใ”ใ†ใใ—ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ Other connective tissue disorder - + 135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ - - 57 - ๅ…ˆๅคฉ็š„ใชใƒ˜ใƒ ๅˆๆˆ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็šฎ่†šๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใจใ—ใฆๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆCEP๏ผ‰ใ€่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆEPP๏ผ‰ใซใ€่‚ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ไพ‹ใจใ—ใฆALA่„ฑๆฐด้…ต็ด ๆฌ ๆ็—‡ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆADP๏ผ‰ใ€ๆ€ฅๆ€ง้–“ๆญ‡ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆAIP๏ผ‰ใ€้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆHCP๏ผ‰ใ€็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(VP)ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆPCT๏ผ‰ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใจ้ชจ้ซ„ใฎไธกๆ–นใซ็•ฐๅธธใฎใ‚ใ‚‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใฏใ€่‚่ตค่Šฝ็ƒใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(HEP)ใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏใ€CEP ADP HEP ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ€ใใฎไป–ใฎ็—…ๅž‹ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200610 - - porphyria + + 57 + ๅ…ˆๅคฉ็š„ใชใƒ˜ใƒ ๅˆๆˆ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็šฎ่†šๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใจใ—ใฆๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆCEP๏ผ‰ใ€่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆEPP๏ผ‰ใซใ€่‚ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ไพ‹ใจใ—ใฆALA่„ฑๆฐด้…ต็ด ๆฌ ๆ็—‡ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆADP๏ผ‰ใ€ๆ€ฅๆ€ง้–“ๆญ‡ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆAIP๏ผ‰ใ€้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆHCP๏ผ‰ใ€็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(VP)ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆPCT๏ผ‰ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใจ้ชจ้ซ„ใฎไธกๆ–นใซ็•ฐๅธธใฎใ‚ใ‚‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใฏใ€่‚่ตค่Šฝ็ƒใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(HEP)ใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏใ€CEP ADP HEP ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ€ใใฎไป–ใฎ็—…ๅž‹ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200610 + + congenital porphyria + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - - + ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ - - 23 - ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่‚่‡“ใงๅˆๆˆใ•ใ‚Œใ‚‹็ณ–ใ‚ฟใƒณใƒ‘ใ‚ฏใงใ€่ก€ๆถฒไธญใฎฮฑ1ใ‚ฐใƒญใƒ–ใƒชใƒณๅˆ†็”ปใฎ80ใ‹ใ‚‰90๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่ก€ๆตใ‚’ไป‹ใ—ใฆๆฟƒๅบฆไพๅญ˜็š„ใซ่‚บๅ†…ๆ‹กๆ•ฃใ—ใ€ๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ้˜ปๅฎณๅ‰คใจใ—ใฆ่‚บ่ƒžๅฃใฎ้šœๅฎณใ‚’้˜ฒใไฝœ็”จใŒใ‚ใ‚‹ใ€‚ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใŒ็”Ÿไฝ“ๅ†…ใงๆฌ ๆใ™ใ‚‹ใจใ€ๅฐๅ…ใงใฏใ€่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚้šœๅฎณใ€ๆˆไบบใงใฏๆ—ฉๆœŸ็™บ็—‡ๅž‹่‚บๆฐ—่…ซใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ - 2200611 - + + 23 + ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่‚่‡“ใงๅˆๆˆใ•ใ‚Œใ‚‹็ณ–ใ‚ฟใƒณใƒ‘ใ‚ฏใงใ€่ก€ๆถฒไธญใฎฮฑ1ใ‚ฐใƒญใƒ–ใƒชใƒณๅˆ†็”ปใฎ80ใ‹ใ‚‰90๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่ก€ๆตใ‚’ไป‹ใ—ใฆๆฟƒๅบฆไพๅญ˜็š„ใซ่‚บๅ†…ๆ‹กๆ•ฃใ—ใ€ๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ้˜ปๅฎณๅ‰คใจใ—ใฆ่‚บ่ƒžๅฃใฎ้šœๅฎณใ‚’้˜ฒใไฝœ็”จใŒใ‚ใ‚‹ใ€‚ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใŒ็”Ÿไฝ“ๅ†…ใงๆฌ ๆใ™ใ‚‹ใจใ€ๅฐๅ…ใงใฏใ€่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚้šœๅฎณใ€ๆˆไบบใงใฏๆ—ฉๆœŸ็™บ็—‡ๅž‹่‚บๆฐ—่…ซใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ + NANDO:2200611 + Alpha-1-antitrypsin deficiency ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡ + ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡ - - 10 - ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฏใ€็จฎใ€…ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ชจ้ซ„ใซๅทจ่ตค่Šฝ็ƒใŒๅ‡บ็พใ™ใ‚‹่ฒง่ก€ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณB12ๆฌ ไนใ‚„่‘‰้…ธๆฌ ไนใชใฉใซใ‚ˆใ‚Šใ€DNAๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œๆ ธใฎๆˆ็†Ÿ้šœๅฎณใ‚’ใใŸใ—ใ€็•ฐๅธธใชๅทจ่ตค่Šฝ็ƒใŒ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚RNAๅˆๆˆใ‚„ใ‚ฟใƒณใƒ‘ใ‚ฏๅˆๆˆ้šœๅฎณใฏ็›ธๅฏพ็š„ใซ่ปฝๅบฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€็ดฐ่ƒž่ณชใฏๆˆ็†Ÿใ—ๅคงใใใชใ‚Šใ€ๆœช็†Ÿใชๅคงใใ„ๆ ธใจ็ดฐ่ƒž่ณช้–“ใฎๆˆ็†Ÿไธไธ€่‡ดใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅทจ่ตค่Šฝ็ƒใฎๅคšใใฏๆˆ็†Ÿใ™ใ‚‹ใ“ใจใŒใงใใšใ€้ชจ้ซ„ๅ†…ใงใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใซใ‚ˆใ‚Šๆญปๆป…ใ—็„กๅŠน้€ ่ก€ใ‚’ใใŸใ™ใ€‚DNAๅˆๆˆ้šœๅฎณใฏๅ…จ่บซใง่ตทใ“ใ‚Šใ€่ฒง่ก€ไปฅๅค–ใซใ‚‚ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200612 - - Megaloblastic anaemia + + 10 + ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฏใ€็จฎใ€…ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ชจ้ซ„ใซๅทจ่ตค่Šฝ็ƒใŒๅ‡บ็พใ™ใ‚‹่ฒง่ก€ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณB12ๆฌ ไนใ‚„่‘‰้…ธๆฌ ไนใชใฉใซใ‚ˆใ‚Šใ€DNAๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œๆ ธใฎๆˆ็†Ÿ้šœๅฎณใ‚’ใใŸใ—ใ€็•ฐๅธธใชๅทจ่ตค่Šฝ็ƒใŒ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚RNAๅˆๆˆใ‚„ใ‚ฟใƒณใƒ‘ใ‚ฏๅˆๆˆ้šœๅฎณใฏ็›ธๅฏพ็š„ใซ่ปฝๅบฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€็ดฐ่ƒž่ณชใฏๆˆ็†Ÿใ—ๅคงใใใชใ‚Šใ€ๆœช็†Ÿใชๅคงใใ„ๆ ธใจ็ดฐ่ƒž่ณช้–“ใฎๆˆ็†Ÿไธไธ€่‡ดใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅทจ่ตค่Šฝ็ƒใฎๅคšใใฏๆˆ็†Ÿใ™ใ‚‹ใ“ใจใŒใงใใšใ€้ชจ้ซ„ๅ†…ใงใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใซใ‚ˆใ‚Šๆญปๆป…ใ—็„กๅŠน้€ ่ก€ใ‚’ใใŸใ™ใ€‚DNAๅˆๆˆ้šœๅฎณใฏๅ…จ่บซใง่ตทใ“ใ‚Šใ€่ฒง่ก€ไปฅๅค–ใซใ‚‚ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200612 + + Megaloblastic anemia + ใใ‚‡ใ›ใใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ - + + Megaloblastic anaemia + ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ - - 26 - ่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ใŠใ‚ˆใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใŒๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใฎใซๅฏพใ—ใ€่ตค่Šฝ็ƒ็™†ใงใฏ้ธๆŠž็š„ใซ่ตค่ก€็ƒ็ณปใฎใฟใŒๆธ›ๅฐ‘ใ—ใ€้‡็—‡ใฎ่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€็™ฝ่ก€็ƒๆ•ฐใจ่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใซไฟใŸใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใŒใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†ใจใ—ใฆDiamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งๆ…ขๆ€ง่ตค่Šฝ็ƒ็™†ใฏ็—…ๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งใจๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹็ถš็™บๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200613 - + + 26 + ่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ใŠใ‚ˆใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใŒๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใฎใซๅฏพใ—ใ€่ตค่Šฝ็ƒ็™†ใงใฏ้ธๆŠž็š„ใซ่ตค่ก€็ƒ็ณปใฎใฟใŒๆธ›ๅฐ‘ใ—ใ€้‡็—‡ใฎ่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€็™ฝ่ก€็ƒๆ•ฐใจ่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใซไฟใŸใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใŒใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†ใจใ—ใฆDiamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งๆ…ขๆ€ง่ตค่Šฝ็ƒ็™†ใฏ็—…ๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งใจๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹็ถš็™บๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200613 + acquired pure red cell aplasia + ใ“ใ†ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ† ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™† - + - - + ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™† - - 27 - Diamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใฏใ€่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏๆญฃๅฝขๆˆใงใ‚ใ‚‹ใŒ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ก”่‰ฒไธ่‰ฏใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€1ๆญณใพใงใซ90๏ผ…ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚็ด„40๏ผ…ใฎไพ‹ใฏ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๆ•ฃ็™บไพ‹ใงใ‚ใ‚‹ใŒใ€็ด„10๏ฝž20๏ผ…ใฎ็—‡ไพ‹ใงใฏๅฎถๆ—ๆญดใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200614 - + + 27 + Diamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใฏใ€่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏๆญฃๅฝขๆˆใงใ‚ใ‚‹ใŒ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ก”่‰ฒไธ่‰ฏใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€1ๆญณใพใงใซ90๏ผ…ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚็ด„40๏ผ…ใฎไพ‹ใฏ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๆ•ฃ็™บไพ‹ใงใ‚ใ‚‹ใŒใ€็ด„10๏ฝž20๏ผ…ใฎ็—‡ไพ‹ใงใฏๅฎถๆ—ๆญดใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200614 + congenital red cell aplasia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ† ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™† - + Diamond-Blackfan anaemia ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€ + ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™† - - 43 - ๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ใŠใ‚ˆใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚Iๅž‹ใ‹ใ‚‰IIIๅž‹ใฎ๏ผ“็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200615 - - congenital dyserythropoietic anaemia + + 43 + ๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ใŠใ‚ˆใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚Iๅž‹ใ‹ใ‚‰IIIๅž‹ใฎ๏ผ“็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200615 + + Congenital dyserythropoietic anemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ - - + - + CDA - + Congenital dyserythropoietic anaemia ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ - - 46 - ้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„ใซใŠใ‘ใ‚‹็’ฐ็Šถ้‰„่Šฝ็ƒใฎๅ‡บ็พใ‚’็‰นๅพดใจใ—ใ€ๅŒๆ™‚ใซ็„กๅŠน้€ ่ก€ใŒ้€ฒ่กŒใ™ใ‚‹่ฒง่ก€ใงใ‚ใ‚‹ใ€‚็’ฐ็Šถ้‰„่Šฝ็ƒใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซใŠใ‘ใ‚‹้‰„ใฎๅˆฉ็”จ้šœๅฎณใซใ‚ˆใ‚Šๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใ€ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€ใƒ˜ใƒ ๅˆๆˆใฎ็•ฐๅธธใ€้‰„ - ็กซ้ป„ใ‚ฏใƒฉใ‚นใ‚ฟใƒผใฎๅˆๆˆใƒป่ผธ้€็•ฐๅธธใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚„ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAใฎๅค‰็•ฐใƒปๆฌ ๅคฑใชใฉใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใซๅฑžใ™ใ‚‹ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใจใ€่–ฌๅ‰คๆ€งใ€ไธญๆฏ’ๆ€งใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใชใŠใ€ๅ…ˆๅคฉๆ€งใ€ๅพŒๅคฉๆ€งใ‚’ๅ•ใ‚ใšใ€ๆœฌ็–พๆ‚ฃใฎไธ€้ƒจใซใƒ”ใƒชใƒ‰ใ‚ญใ‚ทใƒณๆฒป็™‚ใซๅๅฟœใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚Šใ€็‹ฌ็ซ‹ใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ - 2200616 - - sideroblastic anaemia + + 46 + ้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„ใซใŠใ‘ใ‚‹็’ฐ็Šถ้‰„่Šฝ็ƒใฎๅ‡บ็พใ‚’็‰นๅพดใจใ—ใ€ๅŒๆ™‚ใซ็„กๅŠน้€ ่ก€ใŒ้€ฒ่กŒใ™ใ‚‹่ฒง่ก€ใงใ‚ใ‚‹ใ€‚็’ฐ็Šถ้‰„่Šฝ็ƒใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซใŠใ‘ใ‚‹้‰„ใฎๅˆฉ็”จ้šœๅฎณใซใ‚ˆใ‚Šๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใ€ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€ใƒ˜ใƒ ๅˆๆˆใฎ็•ฐๅธธใ€้‰„ - ็กซ้ป„ใ‚ฏใƒฉใ‚นใ‚ฟใƒผใฎๅˆๆˆใƒป่ผธ้€็•ฐๅธธใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚„ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAใฎๅค‰็•ฐใƒปๆฌ ๅคฑใชใฉใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใซๅฑžใ™ใ‚‹ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใจใ€่–ฌๅ‰คๆ€งใ€ไธญๆฏ’ๆ€งใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใชใŠใ€ๅ…ˆๅคฉๆ€งใ€ๅพŒๅคฉๆ€งใ‚’ๅ•ใ‚ใšใ€ๆœฌ็–พๆ‚ฃใฎไธ€้ƒจใซใƒ”ใƒชใƒ‰ใ‚ญใ‚ทใƒณๆฒป็™‚ใซๅๅฟœใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚Šใ€็‹ฌ็ซ‹ใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200616 + + Sideroblastic anemia + ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ - + + Sideroblastic anaemia + ้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ - - 50 - ้‰„ใฎ่ผธ้€ใ‚’ๅธใ‚‹ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ๏ผˆtransferrin: TF๏ผ‰ใฎๆฌ ไนใซใ‚ˆใ‚Šใ€้ชจ้ซ„ใซ้‰„ใ‚’ไพ›็ตฆใงใใšใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ใพใŸๅŒๆ™‚ใซใ€ๅˆฉ็”จใ•ใ‚Œใชใ‹ใฃใŸ้‰„ใŒๅ…จ่บซใฎ่‡“ๅ™จใธๆฒˆ็€ใ—ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚‚ใใŸใ™ใ€‚ - 2200617 - + + 50 + ้‰„ใฎ่ผธ้€ใ‚’ๅธใ‚‹ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ๏ผˆtransferrin: TF๏ผ‰ใฎๆฌ ไนใซใ‚ˆใ‚Šใ€้ชจ้ซ„ใซ้‰„ใ‚’ไพ›็ตฆใงใใšใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ใพใŸๅŒๆ™‚ใซใ€ๅˆฉ็”จใ•ใ‚Œใชใ‹ใฃใŸ้‰„ใŒๅ…จ่บซใฎ่‡“ๅ™จใธๆฒˆ็€ใ—ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚‚ใใŸใ™ใ€‚ + NANDO:2200617 + congenital atransferrinemia + ใ‚€ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† ็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡ - + + Congenital atransferrinaemia ็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡ - - 21 - ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚ - 2200618 - + + 21 + ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200618 + cold agglutinin disease + ใ‹ใ‚“ใ‚Œใ„ใŽใ‚‡ใ†ใ—ใ‚…ใ†ใใ—ใ‚‡ใ† ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ + - + CAD - ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ - - 22 - ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚ - 2200619 - - paroxysmal cold haemoglobinuria + + 22 + ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200619 + + Paroxysmal cold hemoglobinuria + ใปใฃใ•ใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ + - + PCH + Paroxysmal cold haemoglobinuria - ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - 23 - ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚ - 2200620 - + + 23 + ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200620 + + 7ใŠใ‚ˆใณ8ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค 7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - autoimmune haemolytic anaemia - + Other autoimmune hemolytic anemia - - AIHA - + + Other autoimmune haemolytic anaemia 7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 48 - ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆparoxysmal nocturnal hemoglobinuria๏ผŒPNH๏ผ‰ใฏใ€PIG-A้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€๏ผˆใ‚ฏใƒผใƒ ใ‚น้™ฐๆ€ง๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆaplastic anemia๏ผŒAA๏ผ‰ใ‚’ไปฃ่กจใจใ™ใ‚‹ๅพŒๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏ็จ€ใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ใพใŸ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ‚‚ใ‚ใ‚‹1)ใ€‚ - 2200621 - - paroxysmal nocturnal haemoglobinuria + + 48 + ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆparoxysmal nocturnal hemoglobinuria๏ผŒPNH๏ผ‰ใฏใ€PIG-A้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€๏ผˆใ‚ฏใƒผใƒ ใ‚น้™ฐๆ€ง๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆaplastic anemia๏ผŒAA๏ผ‰ใ‚’ไปฃ่กจใจใ™ใ‚‹ๅพŒๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏ็จ€ใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ใพใŸ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ‚‚ใ‚ใ‚‹1)ใ€‚ + NANDO:2200621 + + Paroxysmal nocturnal hemoglobinuria + ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - + - + PNH + Paroxysmal nocturnal haemoglobinuria ็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ - - 1 - ่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ - 2200622 - + + 1 + ่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:2200622 + hereditary spherocytosis + ใ„ใงใ‚“ใ›ใ„ใใ‚…ใ†ใ˜ใ‚‡ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ† ้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡ - + HS - ้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡ - - 4 - ่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ - 2200623 - + + 4 + ่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:2200623 + Hereditary stomatocytosis + ใ“ใ†ใ—ใ‚“ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ† ๅฃๅ”‡่ตค่ก€็ƒ็—‡ + - + ๅฃๅ”‡่ตค่ก€็ƒ็—‡ - - 2 - ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚ - 2200624 - + + 2 + ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€ๆœซๆขข่ก€ๆต้–‰ๅกžใซใ‚ˆใ‚‹็–ผ็—›็™บไฝœใ€ใใฎๅพŒ้บ็—‡ใจใ—ใฆๅคš่‡“ๅ™จ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200624 + sickle cell disease + ใ‹ใพใ˜ใ‚‡ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ† ้ŽŒ็Šถ่ตค่ก€็ƒ็—‡ - + SCD - - - ้ŽŒ็Šถ่ตค่ก€็ƒ็—‡ - - 7 - ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚ - 2200625 - - Unstable haemoglobin disease + + 7 + ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbใฎใ‚ฐใƒญใƒ“ใƒณ้Ž–ใ‚ขใƒŸใƒŽ้…ธๅค‰็•ฐใซใ‚ˆใ‚ŠHbใฎๅฎ‰ๅฎšๆ€งใŒๅคฑใ‚ใ‚Œ๏ผŒ้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใŒๆธ›ๅผฑใ—ใฆๆ…ขๆ€งๆบถ่ก€ใ‚„ไธ€้Žๆ€งใฎๆบถ่ก€็™บไฝœใ‚’่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200625 + + Unstable hemoglobin disease + ใตใ‚ใ‚“ใฆใ„ใธใ‚‚ใใ‚ใณใ‚“ใ—ใ‚‡ใ† ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡ - + + Unstable haemoglobin disease + ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡ - - 5 - ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚ - 2200626 - - thalassaemia + + 5 + ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚ + NANDO:2200626 + + Thalassemia + ใ•ใ‚‰ใ›ใฟใ‚ ใ‚ตใƒฉใ‚ปใƒŸใ‚ข - + + Thalassaemia + ใ‚ตใƒฉใ‚ปใƒŸใ‚ข - - 3 - ่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ - 2200627 - + + 3 + ่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ + NANDO:2200627 + Glucose-6-phosphate dehydrogenase deficiency + ใใ‚‹ใ“ใƒผใ™6ใ‚Šใ‚“ใ•ใ‚“ใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใคใผใ†ใ—ใ‚‡ใ† ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡ - + ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡ - - 6 - ่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ - 2200628 - - Hemolytic anaemia due to red cell pyruvate kinase deficiency + + 6 + ่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ + NANDO:2200628 + + Hemolytic anemia due to red cell pyruvate kinase deficiency + ใดใ‚‹ใณใ‚“ใ•ใ‚“ใใชใƒผใœใ‘ใคใผใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€ + - + + Hemolytic anaemia due to red cell pyruvate kinase deficiency + ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€ - - 8 - ไปฅไธ‹ใฎๆง˜ใช็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸ๏ผˆ่ƒŽๅ…ๆœŸ๏ผ‰ใฎๆบถ่ก€ๆ€ง่ฒง่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€็„ก็—‡็Šถใซ็ตŒ้Žใ™ใ‚‹ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚่ฉณ็ดฐใฏๆˆๆ›ธ๏ผˆNathan & Oski's Hematology of Infancy and Childhood, Saunders ๏ผ‰ใ‚’ๅ‚็…งใ€‚้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ Hereditary elliptocytosisใ€Hereditaryใ€€pyropoikilocytosis,Classic hereditary XerocytosisSomatocytic XerocytosisXerocytosis with high phosphatiylcholine hemolytic anemiaHemoglobin C disease - 2200629 - + + 8 + ไปฅไธ‹ใฎๆง˜ใช็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸ๏ผˆ่ƒŽๅ…ๆœŸ๏ผ‰ใฎๆบถ่ก€ๆ€ง่ฒง่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€็„ก็—‡็Šถใซ็ตŒ้Žใ™ใ‚‹ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚่ฉณ็ดฐใฏๆˆๆ›ธ๏ผˆNathan & Oski's Hematology of Infancy and Childhood, Saunders ๏ผ‰ใ‚’ๅ‚็…งใ€‚้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ Hereditary elliptocytosisใ€Hereditaryใ€€pyropoikilocytosis,Classic hereditary XerocytosisSomatocytic XerocytosisXerocytosis with high phosphatiylcholine hemolytic anemiaHemoglobin C disease + NANDO:2200629 + + 11ใ‹ใ‚‰17ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ„ใงใ‚“ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค 11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - Other hereditary haemolytic anaemia + Other hereditary hemolytic anemia - + + Other hereditary haemolytic anaemia 11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 8 - 2200630 - + + 8 + NANDO:2200630 + Hereditary elliptocytosis + ใ„ใงใ‚“ใ›ใ„ใ ใˆใ‚“ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ† ้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ - + ้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ - - 8 - 2200631 - - Hereditaryใ€€pyropoikilocytosis + + 8 + NANDO:2200631 + + Hereditary pyropoikilocytosis + ใ„ใงใ‚“ใ›ใ„ใญใคใธใ‚“ใ‘ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ† ้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡ + - + ้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡ - - 8 - 2200632 - + + 8 + NANDO:2200632 + Classic hereditary Xerocytosis Classic hereditary Xerocytosis - + ๅคๅ…ธ็š„้บไผๆ€งไนพ็‡ฅ่ตค่ก€็ƒ็—‡ + Classic hereditary Xerocytosis - - 8 - 2200633 - - Somatocytic Xerocytosis - Somatocytic Xerocytosis + + 8 + NANDO:2200633 + + Stomatocytic Xerocytosis + Stomatocytic Xerocytosis - - Somatocytic Xerocytosis - - - 8 - 2200634 - - Xerocytosis with high phosphatiylcholine hemolytic anemia - Xerocytosis with high phosphatiylcholine hemolytic anemia + + + Stomatocytic Xerocytosis + + + 8 + NANDO:2200634 + + Xerocytosis with high phosphatidylcholine hemolytic anemia + ใ„ใงใ‚“ใ›ใ„ใ“ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใพใใปใ™ใตใใกใ˜ใ‚‹ใ“ใ‚Šใ‚“ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค + ้บไผๆ€ง้ซ˜่ตค่ก€็ƒ่†œใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณๆบถ่ก€ๆ€ง่ฒง่ก€ + - - Xerocytosis with high phosphatiylcholine hemolytic anemia - - - 8 - 2200635 - + + HPCHA + Xerocytosis with high phosphatidylcholine haemolytic anaemia + + ้บไผๆ€ง้ซ˜่ตค่ก€็ƒ่†œใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณๆบถ่ก€ๆ€ง่ฒง่ก€ + + + 8 + NANDO:2200635 + Hemoglobin C disease + ใธใ‚‚ใใ‚ใณใ‚“ใ—ใƒผใ—ใ‚‡ใ† ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡ - + + Haemoglobin C disease ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡ - - 52 - ่„พๆฉŸ่ƒฝไบข้€ฒใซใ‚ˆใ‚Šใ€่ตค่ก€็ƒ็ ดๅฃŠใฎไบข้€ฒใ‚„ๆ•ๆ‰ใƒป่ฒฏ่”ต่ƒฝใฎๅข—ๅคงใŒ่ตทใ“ใ‚Š่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€โ‘ ๏ผ‘็ณป็ตฑไปฅไธŠใฎ่ก€็ƒๆธ›ๅฐ‘ใ€โ‘ก่ก€็ƒๆธ›ๅฐ‘ใซๅฏพๅฟœใ—ใŸ้ชจ้ซ„้Žๅฝขๆˆใ€โ‘ข่„พ่…ซใ€โ‘ฃ่„พๆ‘˜ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใฎๆ”นๅ–„ใ€ใฎ4้ …็›ฎใ™ในใฆใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆDameshek๏ผ‰ใ€‚ - 2200636 - - haemolytic anaemia + + 52 + ่„พๆฉŸ่ƒฝไบข้€ฒใซใ‚ˆใ‚Šใ€่ตค่ก€็ƒ็ ดๅฃŠใฎไบข้€ฒใ‚„ๆ•ๆ‰ใƒป่ฒฏ่”ต่ƒฝใฎๅข—ๅคงใŒ่ตทใ“ใ‚Š่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€โ‘ ๏ผ‘็ณป็ตฑไปฅไธŠใฎ่ก€็ƒๆธ›ๅฐ‘ใ€โ‘ก่ก€็ƒๆธ›ๅฐ‘ใซๅฏพๅฟœใ—ใŸ้ชจ้ซ„้Žๅฝขๆˆใ€โ‘ข่„พ่…ซใ€โ‘ฃ่„พๆ‘˜ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใฎๆ”นๅ–„ใ€ใฎ4้ …็›ฎใ™ในใฆใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆDameshek๏ผ‰ใ€‚ + NANDO:2200636 + + Hemolytic anemia + ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค ๆบถ่ก€ๆ€ง่ฒง่ก€ - + + Haemolytic anaemia + ๆบถ่ก€ๆ€ง่ฒง่ก€ - - 52 - 2200637 - - haemolytic anaemia due to hypersplenism + + 52 + NANDO:2200637 + + hypersplenism + ใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ - + + ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ - - 47 - ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ - 2200638 - - microangiopathic haemolytic anaemia + + 47 + ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ + NANDO:2200638 + + Microangiopathic hemolytic anemia + ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - + MAHA + Microangiopathic haemolytic anaemia ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ - - 47 - ๅฟ—่ณ€ๆฏ’็ด ๏ผˆShiga toxin: STX๏ผŒใƒ™ใƒญๆฏ’็ด  Vero toxin: VTใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’็”ฃ็”Ÿใ™ใ‚‹่…ธ็ฎกๅ‡บ่ก€ๆ€งๅคง่…ธ่Œ๏ผˆ enterohemorrhagic Escherichia coli: EHEC๏ผ‰ใซใ‚ˆใ‚‹่…ธ็‚Žใซๅผ•ใ็ถšใ๏ผŒTMAใฎ3ไธปๅพด๏ผˆๆจ™็š„้šœๅฎณ่‡“ๅ™จใฏ่…Ž๏ผ‰ใŒใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒSTEC-HUSใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ - 2200639 - + + 47 + ๅฟ—่ณ€ๆฏ’็ด ๏ผˆShiga toxin: STX๏ผŒใƒ™ใƒญๆฏ’็ด  Vero toxin: VTใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’็”ฃ็”Ÿใ™ใ‚‹่…ธ็ฎกๅ‡บ่ก€ๆ€งๅคง่…ธ่Œ๏ผˆ enterohemorrhagic Escherichia coli: EHEC๏ผ‰ใซใ‚ˆใ‚‹่…ธ็‚Žใซๅผ•ใ็ถšใ๏ผŒTMAใฎ3ไธปๅพด๏ผˆๆจ™็š„้šœๅฎณ่‡“ๅ™จใฏ่…Ž๏ผ‰ใŒใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒSTEC-HUSใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ + NANDO:2200639 + disseminated intravascular coagulation + ใฏใ—ใ‚…ใ›ใ„ใ‘ใฃใ‹ใ‚“ใชใ„ใŽใ‚‡ใ†ใ“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค - + DIC ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค - - 47 - ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ - 2200640 - + + 47 + ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ + NANDO:2200640 + Shiga toxin-producing Escherichia coli hemolytic uremic syndrome + ใ—ใŒใฉใใใ•ใ‚“ใ›ใ„ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใณใ‚‡ใ†ใ’ใ‚“ใ ใ„ใกใ‚‡ใ†ใใ‚“ใซใ‚ˆใ‚‹ ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹ - + STEC-HUS + Shiga toxin-producing Escherichia coli haemolytic uremic syndrome + ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹ - - 47 - aHUSใฏ๏ผŒSTEC-HUSใจADAMTS13ใฎๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณใง๏ผŒMAHA๏ผŒ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒๆ€ฅๆ€ง่…Žๅ‚ทๅฎณ๏ผˆAKI๏ผ‰ใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ - 2200641 - - aHUS + + 47 + aHUSใฏ๏ผŒSTEC-HUSใจADAMTS13ใฎๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณใง๏ผŒMAHA๏ผŒ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒๆ€ฅๆ€ง่…Žๅ‚ทๅฎณ๏ผˆAKI๏ผ‰ใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ + NANDO:2200641 + + Atypical hemolytic uremic syndrome + ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - - + + + + + Atypical haemolytic uraemic syndrome + aHUS ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค - - 47 - ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใซ๏ผŒๅพฎๅฐ่ก€็ฎกใซ่ก€็ฎกๅ†…็šฎ็ดฐ่ƒž้šœๅฎณ๏ผŒ่ก€็ฎกๅฃใฎ็กๅญๆง˜ๅค‰ๆ€งใ‚’ไผดใ†่‚ฅๅŽšใ‹ใ‚‰ใชใ‚‹ๅพฎๅฐ่ก€็ฎก้šœๅฎณ๏ผˆmicroangiopathy๏ผ‰ใ‚’ใใŸใ—๏ผŒ่™š่ก€ๆ€ง่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ - 2200642 - - SCT-TMA + + 47 + ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใซ๏ผŒๅพฎๅฐ่ก€็ฎกใซ่ก€็ฎกๅ†…็šฎ็ดฐ่ƒž้šœๅฎณ๏ผŒ่ก€็ฎกๅฃใฎ็กๅญๆง˜ๅค‰ๆ€งใ‚’ไผดใ†่‚ฅๅŽšใ‹ใ‚‰ใชใ‚‹ๅพฎๅฐ่ก€็ฎก้šœๅฎณ๏ผˆmicroangiopathy๏ผ‰ใ‚’ใใŸใ—๏ผŒ่™š่ก€ๆ€ง่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ + NANDO:2200642 + + Stem cell transplant-associated thrombotic microangiopathy + ใžใ†ใ‘ใคใ‹ใ‚“ใ•ใ„ใผใ†ใ„ใ—ใ‚‡ใใ”ใ‘ใฃใ›ใ‚“ใ›ใ„ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ—ใ‚‡ใ† ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡ - + + SCT-TMA ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡ - - 25 - ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200643 - - polycythaemia vera + + 25 + ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200643 + + Polycythemia vera + ใ—ใ‚“ใ›ใ„ใŸใ‘ใคใ—ใ‚‡ใ† ็œŸๆ€งๅคš่ก€็—‡ - + PV + Polycythaemia vera ็œŸๆ€งๅคš่ก€็—‡ - - 9 - ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200644 - - familial polycythaemia + + 9 + ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200644 + + Familial polycythemia + ใ‹ใžใใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ† ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ - + + Familial polycythaemia + ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ - - 16 - ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œ่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆœฌ็—‡ใฏprimary immune thrombocytopenia๏ผˆไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅŽŸๅ› ็–พๆ‚ฃใซๅˆไฝตใ—ใŸ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏsecondary immune thrombocytopenia๏ผˆไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้‡็ฏคๅ‡บ่ก€ใฏ็จ€ใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฏๅทจๆ ธ็ƒใฎๅข—ๅŠ ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ITPใฎ่จบๆ–ญใฏ้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ็–พๆ‚ฃใ‚„่–ฌๅ‰คใฎ้–ขไธŽใ‚’้‘‘ๅˆฅใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ฮผLๆœชๆบ€ใงใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€ๅทจๆ ธ็ƒใฎๆˆ็†Ÿ้šœๅฎณใ‚„็ดฐ่ƒžๅ‚ทๅฎณใ‚’็”Ÿใ˜ใฆใŠใ‚Šใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200645 - + + 16 + ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œ่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆœฌ็—‡ใฏprimary immune thrombocytopenia๏ผˆไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅŽŸๅ› ็–พๆ‚ฃใซๅˆไฝตใ—ใŸ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏsecondary immune thrombocytopenia๏ผˆไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้‡็ฏคๅ‡บ่ก€ใฏ็จ€ใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฏๅทจๆ ธ็ƒใฎๅข—ๅŠ ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ITPใฎ่จบๆ–ญใฏ้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ็–พๆ‚ฃใ‚„่–ฌๅ‰คใฎ้–ขไธŽใ‚’้‘‘ๅˆฅใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ฮผLๆœชๆบ€ใงใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€ๅทจๆ ธ็ƒใฎๆˆ็†Ÿ้šœๅฎณใ‚„็ดฐ่ƒžๅ‚ทๅฎณใ‚’็”Ÿใ˜ใฆใŠใ‚Šใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200645 + immune thrombocytopenic purpura + ใ‚ใ‚“ใˆใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - + ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 17 - ๆœฌ็ดฐๅˆ†้กž24ใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏๅŽŸๅ› ็–พๆ‚ฃใฎๅˆไฝต็—‡ใ€ใ‚ใ‚‹ใ„ใฏไธ€็—‡็Šถใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใงใ€่‡จๅบŠๅƒใฏๅ€‹ๅˆฅใฎๅŽŸๅ› ็–พๆ‚ฃใซใ‚ˆใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใฎ้™คๅค–่จบๆ–ญใซใ‚ˆใ‚‹็ดฐๅˆ†้กž23ใ€Œๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆITP๏ผ‰ใ€ใŒ่ก€ๅฐๆฟใซ้™ๅฎšใ—ใŸ่ก€็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใฎใซๅฏพใ—ใฆใ€ๆœฌ็ดฐๅˆ†้กžใฎ็–พๆ‚ฃใฏ่ก€ๅฐๆฟๆธ›ๅฐ‘ใฎใฟใชใ‚‰ใšไป–ใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚„ๅ…็–ซ็•ฐๅธธใ‚’ไผดใ„ใ€ๅ‡บ่ก€็—‡็ŠถใซๅŠ ใˆใฆๅ€‹ใ€…ใฎๅŽŸๅ› ็–พๆ‚ฃใซ็‰นๆœ‰ใชๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆไบŒๆฌกๆ€งITP๏ผ‰ใฏใ€ๅ…็–ซ็•ฐๅธธใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ€ใ—ใฐใ—ใฐๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚‹่ก€ๆถฒๅ…็–ซ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใจใ—ใฆใฏ่† ๅŽŸ็—…ใ€ๅ…็–ซไธๅ…จ็—‡ใ€ใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ใƒ”ใƒญใƒชๆ„ŸๆŸ“ใ€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„็งปๆคๅพŒๅˆไฝต็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ๆฏๅญ้–“ใซใŠใ‘ใ‚‹่ก€ๅฐๆฟๆŠ—ๅŽŸใ‚„HLAๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹ๆฏ่ฆชใฎๅŒ็จฎๆŠ—ไฝ“ใŒ็ตŒ่ƒŽ็›ค็š„ใซๅ…ใซ็งป่กŒใ™ใ‚‹ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚„ITPๅˆไฝตๆฏไฝ“ใฎๅ‡บ็”Ÿๅ…ใงใฏไธ€้Žๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚ใพใŸใ€ๅฐๅ…ใซใŠใ„ใฆใฏ้žๅ…็–ซๅญฆ็š„็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใŒ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‚‚ใ—ใฐใ—ใฐ็ตŒ้จ“ใ•ใ‚Œใ‚‹ใ€‚้žๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’็”Ÿใ˜ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใซใฏใ€่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟ็—‡ใ€่ก€็ฎก่…ซใซไผดใ†ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ - 2200646 - + + 17 + ๆœฌ็ดฐๅˆ†้กž24ใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏๅŽŸๅ› ็–พๆ‚ฃใฎๅˆไฝต็—‡ใ€ใ‚ใ‚‹ใ„ใฏไธ€็—‡็Šถใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใงใ€่‡จๅบŠๅƒใฏๅ€‹ๅˆฅใฎๅŽŸๅ› ็–พๆ‚ฃใซใ‚ˆใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใฎ้™คๅค–่จบๆ–ญใซใ‚ˆใ‚‹็ดฐๅˆ†้กž23ใ€Œๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆITP๏ผ‰ใ€ใŒ่ก€ๅฐๆฟใซ้™ๅฎšใ—ใŸ่ก€็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใฎใซๅฏพใ—ใฆใ€ๆœฌ็ดฐๅˆ†้กžใฎ็–พๆ‚ฃใฏ่ก€ๅฐๆฟๆธ›ๅฐ‘ใฎใฟใชใ‚‰ใšไป–ใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚„ๅ…็–ซ็•ฐๅธธใ‚’ไผดใ„ใ€ๅ‡บ่ก€็—‡็ŠถใซๅŠ ใˆใฆๅ€‹ใ€…ใฎๅŽŸๅ› ็–พๆ‚ฃใซ็‰นๆœ‰ใชๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆไบŒๆฌกๆ€งITP๏ผ‰ใฏใ€ๅ…็–ซ็•ฐๅธธใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ€ใ—ใฐใ—ใฐๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚‹่ก€ๆถฒๅ…็–ซ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใจใ—ใฆใฏ่† ๅŽŸ็—…ใ€ๅ…็–ซไธๅ…จ็—‡ใ€ใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ใƒ”ใƒญใƒชๆ„ŸๆŸ“ใ€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„็งปๆคๅพŒๅˆไฝต็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ๆฏๅญ้–“ใซใŠใ‘ใ‚‹่ก€ๅฐๆฟๆŠ—ๅŽŸใ‚„HLAๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹ๆฏ่ฆชใฎๅŒ็จฎๆŠ—ไฝ“ใŒ็ตŒ่ƒŽ็›ค็š„ใซๅ…ใซ็งป่กŒใ™ใ‚‹ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚„ITPๅˆไฝตๆฏไฝ“ใฎๅ‡บ็”Ÿๅ…ใงใฏไธ€้Žๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚ใพใŸใ€ๅฐๅ…ใซใŠใ„ใฆใฏ้žๅ…็–ซๅญฆ็š„็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใŒ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‚‚ใ—ใฐใ—ใฐ็ตŒ้จ“ใ•ใ‚Œใ‚‹ใ€‚้žๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’็”Ÿใ˜ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใซใฏใ€่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟ็—‡ใ€่ก€็ฎก่…ซใซไผดใ†ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:2200646 + + 23ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† 23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… Other thrombocytopenic purpura - + 23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 17 - 2200647 - + + 17 + NANDO:2200647 + neonatal alloimmune thrombocytopenia + ใ—ใ‚“ใ›ใ„ใ˜ใฉใ†ใ—ใ‚…ใ‚ใ‚“ใˆใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + + ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 17 - 2200648 - + + 17 + NANDO:2200648 + Heparin-induced thrombocytopenia - ใธใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ + ใธใฑใ‚Šใ‚“ใใ„ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† + ใƒ˜ใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + - ใธใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - - 18 - ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…(thrombotic thrombocytopenic purpura: TTP)ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็ดฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(microangiopathic hemolytic anemia:MAHA)ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่…Ž้šœๅฎณใ€็™บ็†ฑใ€ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใฎๅคๅ…ธ็š„5ๅพดๅ€™๏ผˆๆ–‡็Œฎ1๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ๅ…จ่บซใฎๅพฎๅฐ่ก€็ฎกใซ่ก€ๅฐๆฟ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚5ๅพดๅ€™ใŒใ™ในใฆๆƒใ†ใ“ใจใฏTTPใฎ็—…ๆœŸใŒ้€ฒ่กŒใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ๆœ€่ฟ‘ใงใฏไป–ใซๅŽŸๅ› ใฎใชใ„่ก€ๅฐๆฟๆธ›ๅฐ‘ใจMAHAใฎๅญ˜ๅœจใงๆœฌ็–พๆ‚ฃใ‚’็–‘ใ†ใ“ใจใŒ้‡่ฆใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผˆๆ–‡็Œฎ2,3๏ผ‰ใ€‚TTPใฎใปใจใ‚“ใฉใŒๅพŒๅคฉๆ€งใงใ‚ใ‚‹ใŒใ€ๅ…ˆๅคฉๆ€งTTP๏ผˆUpshaw-Schulman็—‡ๅ€™็พค๏ผšUSS๏ผ‰ใงใฏใ€MAHAใŒๆ˜Žใ‚‰ใ‹ใงใฏใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใฎใง่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒๆœ€ใ‚‚้‡่ฆใชๆŒ‡ๆจ™ใจใชใ‚‹ใ€‚ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏใ€ใƒ•ใ‚ฉใƒณใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆVWF๏ผ‰ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13)ๆดปๆ€ง่‘—ๆธ›ใง่จบๆ–ญใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹๏ผˆๆ–‡็Œฎ4,5๏ผ‰ใ€‚ - 2200649 - - thrombotic thrombocytopenic purpura + ใƒ˜ใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ + + + 18 + ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…(thrombotic thrombocytopenic purpura: TTP)ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็ดฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(microangiopathic hemolytic anemia:MAHA)ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่…Ž้šœๅฎณใ€็™บ็†ฑใ€ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใฎๅคๅ…ธ็š„5ๅพดๅ€™๏ผˆๆ–‡็Œฎ1๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ๅ…จ่บซใฎๅพฎๅฐ่ก€็ฎกใซ่ก€ๅฐๆฟ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚5ๅพดๅ€™ใŒใ™ในใฆๆƒใ†ใ“ใจใฏTTPใฎ็—…ๆœŸใŒ้€ฒ่กŒใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ๆœ€่ฟ‘ใงใฏไป–ใซๅŽŸๅ› ใฎใชใ„่ก€ๅฐๆฟๆธ›ๅฐ‘ใจMAHAใฎๅญ˜ๅœจใงๆœฌ็–พๆ‚ฃใ‚’็–‘ใ†ใ“ใจใŒ้‡่ฆใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผˆๆ–‡็Œฎ2,3๏ผ‰ใ€‚TTPใฎใปใจใ‚“ใฉใŒๅพŒๅคฉๆ€งใงใ‚ใ‚‹ใŒใ€ๅ…ˆๅคฉๆ€งTTP๏ผˆUpshaw-Schulman็—‡ๅ€™็พค๏ผšUSS๏ผ‰ใงใฏใ€MAHAใŒๆ˜Žใ‚‰ใ‹ใงใฏใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใฎใง่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒๆœ€ใ‚‚้‡่ฆใชๆŒ‡ๆจ™ใจใชใ‚‹ใ€‚ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏใ€ใƒ•ใ‚ฉใƒณใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆVWF๏ผ‰ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13)ๆดปๆ€ง่‘—ๆธ›ใง่จบๆ–ญใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹๏ผˆๆ–‡็Œฎ4,5๏ผ‰ใ€‚ + NANDO:2200649 + + Thrombotic thrombocytopenic purpura + ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ† ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - + - + ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… - - 15 - ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€ใ‚ใ‚‰ใ‚†ใ‚‹ๅŽŸๅ› ใฎ่„พ่…ซใง่ช˜็™บใ•ใ‚Œใ‚‹ไบŒๆฌก็š„ใช็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใชใฉใฎ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’ไผดใ†ใ€‚่„พ่…ซใ‚’ๆฅใ™็–พๆ‚ฃใจใ—ใฆใฏใ€ใ†ใฃ่ก€ๆ€ง่„พ่…ซใ€ๆ„ŸๆŸ“็—‡ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่“„็ฉ็—‡ใ€่„พๅšข่ƒžใชใฉใŒใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€่ก€ๅฐๆฟๆ•ฐใŒ๏ผ‘๏ผไธ‡/ฮผlๆœชๆบ€ใฎๅ ดๅˆใ€่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆ็™ฝ่ก€็—…ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉ๏ผ‰ใงใฏใ€็–พๆ‚ฃ่‡ชไฝ“ใซใ‚ˆใ‚‹้ชจ้ซ„ๆŠ‘ๅˆถไฝœ็”จใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚‚ๆฅใŸใ™ใŸใ‚ใ€ใ€Œ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ใจใ™ใ‚‹ใ“ใจใฏใ€ๆ…Ž้‡ใซๅˆคๆ–ญใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 2200650 - + + 15 + ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€ใ‚ใ‚‰ใ‚†ใ‚‹ๅŽŸๅ› ใฎ่„พ่…ซใง่ช˜็™บใ•ใ‚Œใ‚‹ไบŒๆฌก็š„ใช็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใชใฉใฎ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’ไผดใ†ใ€‚่„พ่…ซใ‚’ๆฅใ™็–พๆ‚ฃใจใ—ใฆใฏใ€ใ†ใฃ่ก€ๆ€ง่„พ่…ซใ€ๆ„ŸๆŸ“็—‡ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่“„็ฉ็—‡ใ€่„พๅšข่ƒžใชใฉใŒใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€่ก€ๅฐๆฟๆ•ฐใŒ๏ผ‘๏ผไธ‡/ฮผlๆœชๆบ€ใฎๅ ดๅˆใ€่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆ็™ฝ่ก€็—…ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉ๏ผ‰ใงใฏใ€็–พๆ‚ฃ่‡ชไฝ“ใซใ‚ˆใ‚‹้ชจ้ซ„ๆŠ‘ๅˆถไฝœ็”จใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚‚ๆฅใŸใ™ใŸใ‚ใ€ใ€Œ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ใจใ™ใ‚‹ใ“ใจใฏใ€ๆ…Ž้‡ใซๅˆคๆ–ญใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:2200650 + thrombocytopenia due to hypersplenism + ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 41 - ๆœฌ็—‡ๅ€™็พคใฏใ€้€ ่ก€็ดฐ่ƒžใฎๅˆ†ๅŒ–ใƒปๅข—ๆฎ–ใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚Œใ€้ชจ้ซ„ใงใฎๅ˜ไธ€่ก€็ƒ็ณป็ตฑใชใ„ใ—ไธ‰่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœๆœซๆขข่ก€ใงใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€้€ ่ก€้šœๅฎณไปฅๅค–ใซ็‰นๅพด็š„ใชๅค–่กจๅฅ‡ๅฝขใ‚„ๆ‰€่ฆ‹ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใ€ๅคšใใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚ŒใฆใใŸใŒใ€้บไผ็š„่ƒŒๆ™ฏใŒ็–‘ใ‚ใ‚ŒใชใŒใ‚‰่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚1)ใ€€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใซใฏใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ (FA)ใ€ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡(DC)ใ€ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค (SDS)ใ€ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ (CAMT)ใ€ใƒ”ใ‚ขใ‚ฝใƒณ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€ๅ˜ไธ€็ณป็ตฑ่ก€็ƒๆธ›ๅฐ‘็—‡ใฏใ€่ตค่ก€็ƒ็ณปใงใฏใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€๏ผˆDBA๏ผ‰ใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(CDA)ใ€ๅฅฝไธญ็ƒ็ณปใงใฏๅ…ˆๅคฉๆ€ง้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ (SCN)ใ€ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ€่ก€ๅฐๆฟ็ณปใงใฏ้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซ็งป่กŒๅ‚พๅ‘ใ‚’ๆœ‰ใ™ใ‚‹ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆFPD๏ผ‰ใ€ๆ’“้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใชใฉใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200651 - + + 41 + ๆœฌ็–พๆ‚ฃใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใซใฆๅทจๆ ธ็ƒใŒ่‘—ๆธ›ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅพŒใ€่ก€ๅฐๆฟใ€็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใฎ3็ณป็ตฑใฎ้ชจ้ซ„้€ ่ก€ไธๅ…จใŒๅพใ€…ใซ้€ฒ่กŒใ—ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใธ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€thrombopoietin(TPO)ๅ—ๅฎนไฝ“ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MPL้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎไธ€ใคใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1-6)ใ€‚ + NANDO:2200651 + Congenital amegakaryocytic thrombocytopenia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใใ‚‡ใ‹ใใใ‚…ใ†ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + CAMT ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 42 - ๆœฌ็—‡ๅ€™็พคใฏใ€้€ ่ก€็ดฐ่ƒžใฎๅˆ†ๅŒ–ใƒปๅข—ๆฎ–ใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚Œใ€้ชจ้ซ„ใงใฎๅ˜ไธ€่ก€็ƒ็ณป็ตฑใชใ„ใ—ไธ‰่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœๆœซๆขข่ก€ใงใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€้€ ่ก€้šœๅฎณไปฅๅค–ใซ็‰นๅพด็š„ใชๅค–่กจๅฅ‡ๅฝขใ‚„ๆ‰€่ฆ‹ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใ€ๅคšใใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚ŒใฆใใŸใŒใ€้บไผ็š„่ƒŒๆ™ฏใŒ็–‘ใ‚ใ‚ŒใชใŒใ‚‰่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚1)ใ€€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใซใฏใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ (FA)ใ€ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡(DC)ใ€ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค (SDS)ใ€ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ (CAMT)ใ€ใƒ”ใ‚ขใ‚ฝใƒณ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€ๅ˜ไธ€็ณป็ตฑ่ก€็ƒๆธ›ๅฐ‘็—‡ใฏใ€่ตค่ก€็ƒ็ณปใงใฏใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€๏ผˆDBA๏ผ‰ใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(CDA)ใ€ๅฅฝไธญ็ƒ็ณปใงใฏๅ…ˆๅคฉๆ€ง้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ (SCN)ใ€ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ€่ก€ๅฐๆฟ็ณปใงใฏ้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซ็งป่กŒๅ‚พๅ‘ใ‚’ๆœ‰ใ™ใ‚‹ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆFPD๏ผ‰ใ€ๆ’“้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใชใฉใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200652 - - Fanconi anaemia + + 42 + ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€๏ผˆFA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใชDNAๆๅ‚ทไฟฎๅพฉ้šœๅฎณใ‚’่ƒŒๆ™ฏใซใ€้€ฒ่กŒๆ€งใฎๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMDS๏ผ‰ใ‚„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€ๅ…ˆๅคฉ็š„ใชๅฝขๆ…‹็•ฐๅธธใ€ๆ˜“็™บใŒใ‚“ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญ่จบๆ–ญใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€90%ไปฅไธŠใฎๆ‚ฃ่€…ใง่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ1)ใ€‚ + NANDO:2200652 + + Fanconi anemia + ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ - + + - + + Fanconi anaemia Fanconi่ฒง่ก€ + ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ - - 24 - ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจๆญฃๅธธ่ก€ๅฐๆฟๆ•ฐใธใฎๅ›žๅพฉใŒไธ€ๅฎšใฎๅ‘จๆœŸใง็นฐใ‚Š่ฟ”ใ•ใ‚Œใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎๅ‘จๆœŸๅฝขๆˆใฎๆฉŸๅบใจใ—ใฆใ€๏ผˆ1๏ผ‰ๅทจๆ ธ็ƒใฎ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ2๏ผ‰ๅทจๆ ธ็ƒๅ†…ใงใฎ่ก€ๅฐๆฟ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ3๏ผ‰่ก€ๅฐๆฟใฎ็ ดๅฃŠใฎๅค‰ๅ‹•ใ€ใŒๆŽจๅฏŸใ•ใ‚Œๆˆๅ› ใฎๅคšๆง˜ๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ - 2200653 - + + 24 + ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจๆญฃๅธธ่ก€ๅฐๆฟๆ•ฐใธใฎๅ›žๅพฉใŒไธ€ๅฎšใฎๅ‘จๆœŸใง็นฐใ‚Š่ฟ”ใ•ใ‚Œใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎๅ‘จๆœŸๅฝขๆˆใฎๆฉŸๅบใจใ—ใฆใ€๏ผˆ1๏ผ‰ๅทจๆ ธ็ƒใฎ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ2๏ผ‰ๅทจๆ ธ็ƒๅ†…ใงใฎ่ก€ๅฐๆฟ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ3๏ผ‰่ก€ๅฐๆฟใฎ็ ดๅฃŠใฎๅค‰ๅ‹•ใ€ใŒๆŽจๅฏŸใ•ใ‚Œๆˆๅ› ใฎๅคšๆง˜ๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200653 + cyclic thrombocytopenia + ใ—ใ‚…ใ†ใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 51 - ๆœฌ็–พๆ‚ฃใฏใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธญใงๅทจๅคง่ก€ๅฐๆฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธใ€ใ‚ปใƒใ‚นใƒใƒฃใƒณ๏ผˆSebastian๏ผ‰็—‡ๅ€™็พคใ€ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ๏ผˆFechtner๏ผ‰็—‡ๅ€™็พคใ€ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEpstein๏ผ‰็—‡ๅ€™็พคใจๅˆฅใ€…ใซๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸ้กž็ธ็–พๆ‚ฃใŒใ€ๅŒไธ€ใฎ้บไผๅญ๏ผˆMYH9้บไผๅญ๏ผ‰็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใ“ใ‚Œใ‚‰ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆœฌ็–พๆ‚ฃใŒๆๅ”ฑใ•ใ‚ŒใŸ๏ผˆใคใพใ‚Šใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธใฏใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ใซๅŒ…ๅซใ•ใ‚Œใ‚‹1็—…ๅž‹ใจใชใ‚‹๏ผ‰ใ€‚ๅŒ็พฉใงใ€MYH9็•ฐๅธธ็—‡ใจใ„ใ†็–พๆ‚ฃๅใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๅ…ทไฝ“็š„ใชๅฎš็พฉใจใ—ใฆใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€ๅทจๅคง่ก€ๅฐๆฟ็—‡ใŒใฟใ‚‰ใ‚Œใ€MYH9้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ๅ ดๅˆใซใ€ๆœฌ็–พๆ‚ฃใจ่จบๆ–ญใ™ใ‚‹ใ€‚ใใฎไป–ใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌๅƒใงใฎ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“๏ผˆใƒ‡ใƒผใƒฌๆง˜ๅฐไฝ“๏ผšDรถhle-like bodies๏ผ‰ใฎๅญ˜ๅœจใ‚„ใ€่…Ž็‚Žใ€้›ฃ่ดใ€็™ฝๅ†…้šœใจใ„ใฃใŸใ‚ขใƒซใƒใƒผใƒˆ๏ผˆAlport๏ผ‰็—‡็Šถใฏๆœฌ็–พๆ‚ฃใ‚’็คบๅ”†ใ™ใ‚‹ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚ใชใŠใ€ๅทจๅคง่ก€ๅฐๆฟใฎๆญฃๅผใชๅฎš็พฉใฏใชใ„ใŒใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌไธŠใ€ๆฆ‚ใญๆญฃๅธธ่ก€ๅฐๆฟใฎๅคงใใ•ใฎ2ๅ€็จ‹ๅบฆ๏ผˆ็›ดๅพ„4ฮผm๏ผ‰ใฎๅ ดๅˆใซๅคงๅž‹่ก€ๅฐๆฟใ€่ตค่ก€็ƒๅคง๏ผˆ็›ดๅพ„8ฮผm๏ผ‰ไปฅไธŠใฎๅ ดๅˆใซๅทจๅคง่ก€ๅฐๆฟใจๅˆคๅฎšใ™ใ‚‹ใ€‚ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—‡๏ผˆITP๏ผ‰ใงใ‚‚ๅคงๅž‹่ก€ๅฐๆฟใฏใ—ใฐใ—ใฐ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€ๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๆญฃๅธธๅคงใงใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€งๅทจๅคง่ก€ๅฐๆฟ็—‡ใงใฏๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๅคงๅž‹ใ‚ใ‚‹ใ„ใฏๅทจๅคงใงใ‚ใ‚Šใ€ๆญฃๅธธๅคง่ก€ๅฐๆฟใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ไปฅไธ‹ใซใ€ใ“ใ‚Œใพใงไฝฟ็”จใ•ใ‚ŒใฆใใŸ็–พๆ‚ฃๅใฎใใ‚Œใžใ‚Œใฎ่‡จๅบŠ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ๏ผšๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใ‚ปใƒใ‚นใƒใƒฃใƒณ็—‡ๅ€™็พค๏ผšใ‚„ใ‚„ไธๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถ๏ผˆ่…Ž็‚Žใƒป้›ฃ่ดใƒป็™ฝๅ†…้šœ๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถใ‚’่ชใ‚ใ‚‹ใŒใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฏๅŒๅฎšๅ›ฐ้›ฃ - 2200654 - - Mayโ€Hegglin anomaly + + 51 + ๆœฌ็–พๆ‚ฃใฏใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธญใงๅทจๅคง่ก€ๅฐๆฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธใ€ใ‚ปใƒใ‚นใƒใƒฃใƒณ๏ผˆSebastian๏ผ‰็—‡ๅ€™็พคใ€ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ๏ผˆFechtner๏ผ‰็—‡ๅ€™็พคใ€ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEpstein๏ผ‰็—‡ๅ€™็พคใจๅˆฅใ€…ใซๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸ้กž็ธ็–พๆ‚ฃใŒใ€ๅŒไธ€ใฎ้บไผๅญ๏ผˆMYH9้บไผๅญ๏ผ‰็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใ“ใ‚Œใ‚‰ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆœฌ็–พๆ‚ฃใŒๆๅ”ฑใ•ใ‚ŒใŸ๏ผˆใคใพใ‚Šใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธใฏใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ใซๅŒ…ๅซใ•ใ‚Œใ‚‹1็—…ๅž‹ใจใชใ‚‹๏ผ‰ใ€‚ๅŒ็พฉใงใ€MYH9็•ฐๅธธ็—‡ใจใ„ใ†็–พๆ‚ฃๅใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๅ…ทไฝ“็š„ใชๅฎš็พฉใจใ—ใฆใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€ๅทจๅคง่ก€ๅฐๆฟ็—‡ใŒใฟใ‚‰ใ‚Œใ€MYH9้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ๅ ดๅˆใซใ€ๆœฌ็–พๆ‚ฃใจ่จบๆ–ญใ™ใ‚‹ใ€‚ใใฎไป–ใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌๅƒใงใฎ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“๏ผˆใƒ‡ใƒผใƒฌๆง˜ๅฐไฝ“๏ผšDรถhle-like bodies๏ผ‰ใฎๅญ˜ๅœจใ‚„ใ€่…Ž็‚Žใ€้›ฃ่ดใ€็™ฝๅ†…้šœใจใ„ใฃใŸใ‚ขใƒซใƒใƒผใƒˆ๏ผˆAlport๏ผ‰็—‡็Šถใฏๆœฌ็–พๆ‚ฃใ‚’็คบๅ”†ใ™ใ‚‹ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚ใชใŠใ€ๅทจๅคง่ก€ๅฐๆฟใฎๆญฃๅผใชๅฎš็พฉใฏใชใ„ใŒใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌไธŠใ€ๆฆ‚ใญๆญฃๅธธ่ก€ๅฐๆฟใฎๅคงใใ•ใฎ2ๅ€็จ‹ๅบฆ๏ผˆ็›ดๅพ„4ฮผm๏ผ‰ใฎๅ ดๅˆใซๅคงๅž‹่ก€ๅฐๆฟใ€่ตค่ก€็ƒๅคง๏ผˆ็›ดๅพ„8ฮผm๏ผ‰ไปฅไธŠใฎๅ ดๅˆใซๅทจๅคง่ก€ๅฐๆฟใจๅˆคๅฎšใ™ใ‚‹ใ€‚ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—‡๏ผˆITP๏ผ‰ใงใ‚‚ๅคงๅž‹่ก€ๅฐๆฟใฏใ—ใฐใ—ใฐ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€ๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๆญฃๅธธๅคงใงใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€งๅทจๅคง่ก€ๅฐๆฟ็—‡ใงใฏๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๅคงๅž‹ใ‚ใ‚‹ใ„ใฏๅทจๅคงใงใ‚ใ‚Šใ€ๆญฃๅธธๅคง่ก€ๅฐๆฟใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ไปฅไธ‹ใซใ€ใ“ใ‚Œใพใงไฝฟ็”จใ•ใ‚ŒใฆใใŸ็–พๆ‚ฃๅใฎใใ‚Œใžใ‚Œใฎ่‡จๅบŠ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ๏ผšๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใ‚ปใƒใ‚นใƒใƒฃใƒณ็—‡ๅ€™็พค๏ผšใ‚„ใ‚„ไธๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถ๏ผˆ่…Ž็‚Žใƒป้›ฃ่ดใƒป็™ฝๅ†…้šœ๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถใ‚’่ชใ‚ใ‚‹ใŒใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฏๅŒๅฎšๅ›ฐ้›ฃ + NANDO:2200654 + + May-Hegglin anomaly + ใ‚ใ„ใƒปใธใใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ + - + May-Hegglin็•ฐๅธธ็—‡ + ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ - - 49 - ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200655 - - essential thrombocythaemia + + 49 + ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200655 + + Essential thrombocythemia + ใปใ‚“ใŸใ„ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‘ใฃใ—ใ‚‡ใ† ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡ - + + ET + Essential thrombocythaemia ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡ - - 13 - ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200656 - + + 13 + Bernard-Soulier็—‡ๅ€™็พค (BSS)ใฏใ€ๅ…ˆๅคฉ็š„ใซๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ—ใ€่ก€ๅฐๆฟ่†œ็ณ–่›‹็™ฝ๏ผˆGP๏ผ‰Ib/IX่ค‡ๅˆไฝ“ๆฌ ๆใซใ‚ˆใ‚‹ๅทจๅคง่ก€ๅฐๆฟๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจ่ก€ๅฐๆฟๅ‡้›†ๆฌ ๅฆ‚ใ‚’็‰นๅพดใจใ™ใ‚‹่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200656 + Bernard-Soulier syndrome + ในใ‚‹ใชใƒผใ‚‹ใƒปใ™ใƒผใ‚Šใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค - + Bernard-Soulier็—‡ๅ€™็พค ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค - - 12 - ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200657 - + + 12 + ่ก€ๅฐๆฟ็„กๅŠ›็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ—ใ€่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ‚‚ใฎใฎ่ก€ๅฐๆฟ่†œ็ณ–่›‹็™ฝ๏ผˆGP๏ผ‰IIb/IIIaๆฌ ๆใซใ‚ˆใ‚Šใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณไพๅญ˜ๆ€งใฎ่ก€ๅฐๆฟๅ‡้›†ๆฌ ๅฆ‚ใ‚’็‰นๅพดใจใ™ใ‚‹่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200657 + thrombasthenia + ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† ่ก€ๅฐๆฟ็„กๅŠ›็—‡ - + ่ก€ๅฐๆฟ็„กๅŠ›็—‡ - - 11 - ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200658 - + + 11 + ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200658 + Platelet secretion defects + ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใปใ†ใ—ใ‚…ใคใใ“ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡ - + ่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡ - - 14 - ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200659 - + + 14 + ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200659 + + 33ใ‹ใ‚‰35ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใใฎใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† 33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ Other platelet dysfunction - + 33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ - - 14 - 2200660 - + + 14 + NANDO:2200660 + Congenital thrombocytopenia with radio- ulnar synostosis + ใจใ†ใ“ใคใ—ใ‚ƒใฃใ“ใคใ‚†ใ†ใ”ใ†ใ‚’ใจใ‚‚ใชใ†ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + + ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 14 - 2200661 - + + 14 + NANDO:2200661 + Thrombocytopenia with absent radii + ใจใ†ใ“ใคใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + TAR ็—‡ๅ€™็พค ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 14 - 2200662 - + + 14 + NANDO:2200662 + Familial platelet disorder with propensity to myeloid. + ใ“ใคใšใ„ใ‚ใใ›ใ„ใ—ใ‚…ใ‚ˆใ†ใ‘ใ„ใ“ใ†ใ‚’ใจใ‚‚ใชใ†ใ‹ใžใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - + FPDMM - ย Familial Platelet Disorder with Associated Myeloid Malignancy - + Familial Platelet Disorder with Associated Myeloid Malignancy ้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 14 - 2200663 - - Autosomal dominant thrombocytopenia, thrombocytopenia 2 + + 14 + NANDO:2200663 + + Autosomal dominant thrombocytopenia 2 + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - THC2 + + THC2 ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ - - 14 - 2200664 - + + 14 + NANDO:2200664 + GPIIb/IIIa็•ฐๅธธ็—‡ ITGA2B/ITGB3 mutations + - + + GPIIb/IIIa็•ฐๅธธ็—‡ - - 14 - 2200665 - + + 14 + NANDO:2200665 + ACTN1 mutations ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡ + ใ‚ใ‚‹ใตใใ‚ใใกใซใ‚“1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡ - - 14 - 2200666 - + + 14 + NANDO:2200666 + Paris-Trousseau/Jacobsen็—‡ๅ€™็พค Paris-trousseau/Jacobsen syndrome + ใฑใ‚Šใจใ‚‹ใใƒผ/ใ‚„ใ“ใถใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + Paris-Trousseau/Jacobsen็—‡ๅ€™็พค - - 14 - 2200667 - - platelet dysfunction + + 14 + NANDO:2200667 + + ฮฒ-1 tubulin disorders ฮฒ1 tubulin ็•ฐๅธธ็—‡ + ในใƒผใŸ1ใกใ‚…ใƒผใถใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + Beta-1 tubulin disorders + ฮฒ1-ใƒใƒฅใƒผใƒ–ใƒชใƒณ้บไผๅญ็•ฐๅธธ็—‡ + ฮฒ1 tubulin ็•ฐๅธธ็—‡ - - 14 - 2200668 - - platenet-type von willebrand disease - ่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—… + + 14 + NANDO:2200668 + + platelet-type von willebrand disease + ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใŒใŸใตใ‰ใ‚“ใƒปใณใ‚‹ใถใ‚‰ใ‚“ใฉใณใ‚‡ใ† + ่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—… + - - ่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—… - - - 14 - 2200669 - + + ่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—… + + ่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—… + + + 14 + NANDO:2200669 + ADP receptor deficiencies ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ + ใˆใƒผใงใƒใƒผใดใƒผใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ - - 14 - 2200670 - + + 14 + NANDO:2200670 + Abnormalities in platelet collagen receptors + ใ“ใ‚‰ใƒผใ’ใ‚“ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ + - - GPVI deficiency + + GPVI deficiency GPVIๆฌ ๆ็—‡ + ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ - - 14 - 2200671 - + + 14 + NANDO:2200671 + Scott syndrome + ใ™ใ“ใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค - + + Scott็—‡ๅ€™็พค ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค - - 31 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200672 - - afibrinogenaemia + + 31 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200672 + + Afibrinogenemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใƒใถใ‚Šใฎใƒผใ’ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡ - + + Afibrinogenaemia ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡ - - 32 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200673 - - hypoprothrombinaemia + + 32 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200673 + + Hypoprothrombinemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡ - + + Hypoprothrombinaemia ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡ - - 33 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200674 - + + 33 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200674 + factor V deficiency + ใ ใ„5ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† ็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡ - - - + ็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡ - - 34 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200675 - + + 34 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200675 + factor VII deficiency - ็ฌฌโ…ฆๅ› ๅญๆฌ ไน็—‡ - + ใ ใ„7ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† + ็ฌฌVIIๅ› ๅญๆฌ ไน็—‡ - + - - ็ฌฌโ…ฆๅ› ๅญๆฌ ไน็—‡ - - - 29 - ่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200676 - - haemophilia A + ็ฌฌVIIๅ› ๅญๆฌ ไน็—‡ + + + 29 + ่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200676 + + Hemophilia A + ใ‘ใคใ‚†ใ†ใณใ‚‡ใ†ใˆใƒผ ่ก€ๅ‹็—…๏ผก + - + + Haemophilia A ่ก€ๅ‹็—…๏ผก - - 30 - ่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200677 - - haemophilia B + + 30 + ่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200677 + + Hemophilia B + ใ‘ใคใ‚†ใ†ใณใ‚‡ใ†ใณใƒผ ่ก€ๅ‹็—…๏ผข + - + + Haemophilia B + ่ก€ๅ‹็—…๏ผข - - 35 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200678 - + + 35 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200678 + factor X deficiency + ใ ใ„10ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† ็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡ - + - + - ็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡ - - 36 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200679 - + + 36 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200679 + factor XI deficiency - ็ฌฌโ…ชๅ› ๅญๆฌ ไน็—‡ - + ใ ใ„11ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† + ็ฌฌXIๅ› ๅญๆฌ ไน็—‡ - - + - ็ฌฌโ…ชๅ› ๅญๆฌ ไน็—‡ + ็ฌฌXIๅ› ๅญๆฌ ไน็—‡ - - 37 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200680 - + + 37 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200680 + factor XII deficiency - ็ฌฌโ…ซๅ› ๅญๆฌ ไน็—‡ + ใ ใ„12ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† + ็ฌฌXIIๅ› ๅญๆฌ ไน็—‡ - + - ็ฌฌโ…ซๅ› ๅญๆฌ ไน็—‡ + ็ฌฌXIIๅ› ๅญๆฌ ไน็—‡ - - 38 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200681 - + + 38 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200681 + factor XIII deficiency + ใ ใ„13ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ† ็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡ + - + ็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡ - - 39 - von Willebrand็—…๏ผˆVWD๏ผ‰ใฏvon Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใ‚’ๆฅใ™้บไผๆ€งๅ‡บ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚von Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฏๅˆ†ๅญ้‡็ด„500๏ฝ‹Da-20,000kDaใซๅŠใถใƒžใƒซใƒใƒžใƒผๆง‹้€ ใ‚’ๅฝขๆˆใ™ใ‚‹้ซ˜ๅˆ†ๅญ้‡ใฎ็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚Šใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ‚„้ชจ้ซ„ๅทจๆ ธ็ƒใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚VWFใฏ่ก€็ฎกๆๅ‚ท้ƒจไฝใซใŠใ„ใฆ่ก€ๅฐๆฟใ‚’ๅ†…็šฎไธ‹็ตๅˆ็ต„็น”ใธ็ฒ˜็€ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚’ๆœ‰ใ—ใ€ไธ€ๆฌกๆญข่ก€ใซใŠใ„ใฆๆฅตใ‚ใฆ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚VWFใฏๅคงๅฐๆง˜ใ€…ใชใƒžใƒซใƒใƒžใƒผใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใŒใ€้ซ˜ๅˆ†ๅญ้‡ใฎใƒžใƒซใƒใƒžใƒผใปใฉๆญข่ก€่ƒฝใŒ้ซ˜ใ„ใ€‚ใพใŸVWFใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌโ…งๅ› ๅญ๏ผˆFVIII๏ผ‰ใจ็ตๅˆใ—่ก€ๆผฟไธญใฎFVIIIใ‚’ๅฎ‰ๅฎšๅŒ–ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚‚ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็—‡ใงใฏไบŒๆฌก็š„ใซFVIIIใ‚‚ไฝŽไธ‹ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฎ็—…ๅ› ใƒป็—…ๆ…‹ใฏๅคšๆง˜ใงใ€้‡็š„ๆธ›ๅฐ‘็—‡ใฎ1ๅž‹ใ€่ณช็š„็•ฐๅธธ็—‡ใฎ2ๅž‹ใ€ๅฎŒๅ…จๆฌ ๆ็—‡ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€2ๅž‹ใซใฏๆ›ดใซ2Aใ€2Bใ€2Mใ€2Nใฎ4ไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็š„็—…ๆ…‹ใฏVWFใฎ็•ฐๅธธใซๅŸบใฅใ่ก€ๅฐๆฟ็ฒ˜็€ใŠใ‚ˆใณๅ‡้›†้šœๅฎณใจFVIIIไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚ - 2200682 - + + 39 + von Willebrand็—…๏ผˆVWD๏ผ‰ใฏvon Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใ‚’ๆฅใ™้บไผๆ€งๅ‡บ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚von Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฏๅˆ†ๅญ้‡็ด„500๏ฝ‹Da-20,000kDaใซๅŠใถใƒžใƒซใƒใƒžใƒผๆง‹้€ ใ‚’ๅฝขๆˆใ™ใ‚‹้ซ˜ๅˆ†ๅญ้‡ใฎ็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚Šใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ‚„้ชจ้ซ„ๅทจๆ ธ็ƒใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚VWFใฏ่ก€็ฎกๆๅ‚ท้ƒจไฝใซใŠใ„ใฆ่ก€ๅฐๆฟใ‚’ๅ†…็šฎไธ‹็ตๅˆ็ต„็น”ใธ็ฒ˜็€ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚’ๆœ‰ใ—ใ€ไธ€ๆฌกๆญข่ก€ใซใŠใ„ใฆๆฅตใ‚ใฆ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚VWFใฏๅคงๅฐๆง˜ใ€…ใชใƒžใƒซใƒใƒžใƒผใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใŒใ€้ซ˜ๅˆ†ๅญ้‡ใฎใƒžใƒซใƒใƒžใƒผใปใฉๆญข่ก€่ƒฝใŒ้ซ˜ใ„ใ€‚ใพใŸVWFใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌโ…งๅ› ๅญ๏ผˆFVIII๏ผ‰ใจ็ตๅˆใ—่ก€ๆผฟไธญใฎFVIIIใ‚’ๅฎ‰ๅฎšๅŒ–ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚‚ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็—‡ใงใฏไบŒๆฌก็š„ใซFVIIIใ‚‚ไฝŽไธ‹ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฎ็—…ๅ› ใƒป็—…ๆ…‹ใฏๅคšๆง˜ใงใ€้‡็š„ๆธ›ๅฐ‘็—‡ใฎ1ๅž‹ใ€่ณช็š„็•ฐๅธธ็—‡ใฎ2ๅž‹ใ€ๅฎŒๅ…จๆฌ ๆ็—‡ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€2ๅž‹ใซใฏๆ›ดใซ2Aใ€2Bใ€2Mใ€2Nใฎ4ไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็š„็—…ๆ…‹ใฏVWFใฎ็•ฐๅธธใซๅŸบใฅใ่ก€ๅฐๆฟ็ฒ˜็€ใŠใ‚ˆใณๅ‡้›†้šœๅฎณใจFVIIIไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200682 + Von Willebrand disease + ใตใ‰ใ‚“ใ†ใƒใ‚‹ใถใ‚‰ใ‚“ใฉใณใ‚‡ใ† ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—… + - + VWD von Willebrand็—… - ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—… - - 40 - ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ - 2200683 - + + 40 + ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ + NANDO:2200683 + + 37ใ‹ใ‚‰47ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใคใˆใใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ„ใ˜ใ‚‡ใ† 37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ Other inherited bleeding disorder - + 37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ - - 40 - 2200684 - + + 40 + NANDO:2200684 + congenital prekallikrein deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚Œใ‹ใ‚Šใใ‚Œใ„ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡ - + prekallikrein deficiency ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡ - - 40 - 2200685 - - High molecular weightย kininogen deficiency + + 40 + NANDO:2200685 + + High molecular weight kininogen deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใถใ‚“ใ—ใใซใฎใ’ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡ - - congenital high molecular weightย kininogen deficiency + + congenital high molecular weight kininogen deficiency ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡ - - 40 - 2200686 - + + 40 + NANDO:2200686 + Combined deficiency of coagulation factors V and VIII - ๅ…ˆๅคฉๆ€ง็ฌฌV+VIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡ + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„5ใŠใ‚ˆใณ8ใ„ใ‚“ใ—ใŒใฃใบใ„ใ‘ใคใผใ†ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€ง็ฌฌVใŠใ‚ˆใณVIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡ - - ๅ…ˆๅคฉๆ€ง็ฌฌV+VIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡ - - - 40 - 2200687 - + + + ๅ…ˆๅคฉๆ€ง็ฌฌVใŠใ‚ˆใณVIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡ + + + 40 + NANDO:2200687 + Alpha-2-plasmin inhibitor deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚‹ใตใ2ใทใ‚‰ใ™ใฟใ‚“ใ„ใ‚“ใฒใณใŸใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡ - + ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡ - - 40 - 2200688 - + + 40 + NANDO:2200688 + Congenital Plasminogen Activator Inhibitor-1 Deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚‰ใ™ใฟใฎใ’ใ‚“ใ‚ใใกในใƒผใŸใ„ใ‚“ใฒใณใŸใƒผ1ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡ - - Plasminogen Activator Inhibitor-1 Deficiency + + Plasminogen Activator Inhibitor-1 Deficiency ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡ - - 44 - ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚ - 2200689 - + + 44 + ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚ + NANDO:2200689 + protein C deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใ—ใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡ - - heritable thrombophilia + + protein C deficiency ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡ - - 45 - ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚ - 2200690 - + + 45 + ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚ + NANDO:2200690 + protein S deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใˆใ™ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡ - - heritable thrombophilia + + protein S deficiency ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡ - - 28 - ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚ - 2200691 - + + 28 + ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚ + NANDO:2200691 + antithrombin deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใกใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡ - - heritable thrombophilia + + antithrombin deficiency ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡ - - 19 - ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200692 - + + 19 + ้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200692 + myelofibrosis + ใ“ใคใšใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ้ชจ้ซ„็ทš็ถญ็—‡ - - - + ้ชจ้ซ„็ทš็ถญ็—‡ - - 20 - ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆๅ†ไธ่ฒง๏ผ‰ใฏใ€้ชจ้ซ„ใงใฎ3่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœใ€ๆœซๆขข่ก€ใงใฎ็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใŠใ‚ˆใณ่ก€ๅฐๆฟๆ•ฐใฎใ™ในใฆใŒๆธ›ๅฐ‘ใ™ใ‚‹๏ผˆๆฑŽ่ก€็ƒๆธ›ๅฐ‘๏ผ‰1ใคใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่จบๆ–ญใซใ‚ใŸใฃใฆใฏใ€้ชจ้ซ„ๆจ™ๆœฌใงๅ„่ก€็ƒๆˆๅˆ†ใซๅฝขๆ…‹็•ฐๅธธใ‚’่ชใ‚ใชใ„ใ“ใจใ€็™ฝ่ก€็—…็ดฐ่ƒžใชใฉใฎ่…ซ็˜ๆ€ง่ก€็ƒใฎๅ‡บ็พใ‚’่ชใ‚ใชใ„ใ“ใจใ€็ทš็ถญๆˆๅˆ†ใฎๅข—ๅŠ ใ‚’่ชใ‚ใชใ„ใ“ใจใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใชใ„ใ“ใจใ€่‚‰่Šฝ่…ซใ‚„ๅ›บๅฝข่…ซ็˜ใฎ้ชจ้ซ„่ปข็งปใชใฉใฎๅ ๆ‹ ๆ€ง็—…ๅค‰ใ‚’่ชใ‚ใชใ„ใ“ใจใชใฉใŒๅฟ…่ฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฎŸ้š›ใซๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใฏๅคšๆ•ฐๅญ˜ๅœจใ™ใ‚‹ใฎใงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹ไป–ใฎ็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ†ไธ่ฒงใจ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ - 2200693 - - aplastic anaemia + + 20 + ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆๅ†ไธ่ฒง๏ผ‰ใฏใ€้ชจ้ซ„ใงใฎ3่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœใ€ๆœซๆขข่ก€ใงใฎ็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใŠใ‚ˆใณ่ก€ๅฐๆฟๆ•ฐใฎใ™ในใฆใŒๆธ›ๅฐ‘ใ™ใ‚‹๏ผˆๆฑŽ่ก€็ƒๆธ›ๅฐ‘๏ผ‰1ใคใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่จบๆ–ญใซใ‚ใŸใฃใฆใฏใ€้ชจ้ซ„ๆจ™ๆœฌใงๅ„่ก€็ƒๆˆๅˆ†ใซๅฝขๆ…‹็•ฐๅธธใ‚’่ชใ‚ใชใ„ใ“ใจใ€็™ฝ่ก€็—…็ดฐ่ƒžใชใฉใฎ่…ซ็˜ๆ€ง่ก€็ƒใฎๅ‡บ็พใ‚’่ชใ‚ใชใ„ใ“ใจใ€็ทš็ถญๆˆๅˆ†ใฎๅข—ๅŠ ใ‚’่ชใ‚ใชใ„ใ“ใจใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใชใ„ใ“ใจใ€่‚‰่Šฝ่…ซใ‚„ๅ›บๅฝข่…ซ็˜ใฎ้ชจ้ซ„่ปข็งปใชใฉใฎๅ ๆ‹ ๆ€ง็—…ๅค‰ใ‚’่ชใ‚ใชใ„ใ“ใจใชใฉใŒๅฟ…่ฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฎŸ้š›ใซๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใฏๅคšๆ•ฐๅญ˜ๅœจใ™ใ‚‹ใฎใงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹ไป–ใฎ็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ†ไธ่ฒงใจ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ + NANDO:2200693 + + Aplastic anemia + ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - + - + + Aplastic anaemia + ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ - - 30 - X-SCIDใฏX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚1966ๅนดใซRosen ใ‚‰ใŒๅ ฑๅ‘Šใ—ใŸ3ๅฎถ็ณปใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šฮณ้Ž–ใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€Tใƒชใƒณใƒ‘็ƒใ€NK็ดฐ่ƒžๆ•ฐใฏๆฌ ๆใพใŸใฏ่‘—ๆธ›ใ—(<300/ul)ใ€B็ดฐ่ƒžๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚ - 2200694 - + + 30 + X-SCIDใฏX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚1966ๅนดใซRosen ใ‚‰ใŒๅ ฑๅ‘Šใ—ใŸ3ๅฎถ็ณปใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šฮณ้Ž–ใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€Tใƒชใƒณใƒ‘็ƒใ€NK็ดฐ่ƒžๆ•ฐใฏๆฌ ๆใพใŸใฏ่‘—ๆธ›ใ—(<300/ul)ใ€B็ดฐ่ƒžๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚ + NANDO:2200694 + X-linked severe combined immunodeficiency X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† + - + X-SCID X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ - - 32 - ็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ใฏๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ใใฎไธ€้ƒจใฎๆ‚ฃ่€…ใฏAK2ๆฌ ๆ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚1959ๅนดใซDe Vaalใ‚‰ใฎใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚ŒใŸๅŒ่ƒŽๅ…ใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใƒฌใƒ™ใƒซใงใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ไธ€ๆ–นใ€่ตค่Šฝ็ƒใ‚„ๅทจๆ ธ็ƒใฎๅˆ†ๅŒ–ใฏใปใผๆญฃๅธธใซไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚่ก€ๆถฒๅนน็ดฐ่ƒžใใฎใ‚‚ใฎใฎ็•ฐๅธธใงใฏใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚ - 2200695 - - reticular dysgenesis + + 32 + ็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ใฏๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ใใฎไธ€้ƒจใฎๆ‚ฃ่€…ใฏAK2ๆฌ ๆ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚1959ๅนดใซDe Vaalใ‚‰ใฎใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚ŒใŸๅŒ่ƒŽๅ…ใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใƒฌใƒ™ใƒซใงใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ไธ€ๆ–นใ€่ตค่Šฝ็ƒใ‚„ๅทจๆ ธ็ƒใฎๅˆ†ๅŒ–ใฏใปใผๆญฃๅธธใซไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚่ก€ๆถฒๅนน็ดฐ่ƒžใใฎใ‚‚ใฎใฎ็•ฐๅธธใงใฏใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚ + NANDO:2200695 + + Reticular dysgenesis + ใ•ใ„ใ‚‚ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ + - - + ็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ - - 29 - ADAๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ ธ้…ธไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1972ๅนดใซGiblettใ‚‰ใŒ่ตค่ก€็ƒใฎADAๆดปๆ€งใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ‚’่กŒใ„ๅถ็„ถใซADAๆฌ ๆ็—‡ใจๅ…็–ซไธๅ…จ็—‡ใฎ้–ข้€ฃใ‚’็™บ่ฆ‹ใ—ใŸใ€‚ADA้…ต็ด ๆฌ ๆใ‚ˆใ‚‹ๅ…จ่บซใฎไปฃ่ฌ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆใฎๅฝฑ้Ÿฟใฏ็‰นใซๆœช็†Ÿใชใƒชใƒณใƒ‘็ƒใซๅฏพใ—ใ€้€ฒ่กŒๆ€งใซ็ดฐ่ƒžๆฏ’ใจใ—ใฆไฝœ็”จใ™ใ‚‹ใŸใ‚ใ€ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚ - 2200696 - - adenosine deaminase deficiency + + 29 + ADAๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ ธ้…ธไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1972ๅนดใซGiblettใ‚‰ใŒ่ตค่ก€็ƒใฎADAๆดปๆ€งใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ‚’่กŒใ„ๅถ็„ถใซADAๆฌ ๆ็—‡ใจๅ…็–ซไธๅ…จ็—‡ใฎ้–ข้€ฃใ‚’็™บ่ฆ‹ใ—ใŸใ€‚ADA้…ต็ด ๆฌ ๆใ‚ˆใ‚‹ๅ…จ่บซใฎไปฃ่ฌ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆใฎๅฝฑ้Ÿฟใฏ็‰นใซๆœช็†Ÿใชใƒชใƒณใƒ‘็ƒใซๅฏพใ—ใ€้€ฒ่กŒๆ€งใซ็ดฐ่ƒžๆฏ’ใจใ—ใฆไฝœ็”จใ™ใ‚‹ใŸใ‚ใ€ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚ + NANDO:2200696 + + Adenosine deaminase deficiency + ใ‚ใงใฎใ—ใ‚“ใงใ‚ใฟใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡ + - - + ADA deficiency ADAๆฌ ๆ็—‡ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - - 31 - 1965ๅนดใซOmennใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŒๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็ถฒๅ†…็ณปใŠใ‚ˆใณ็šฎ่†šใฎ็ดฐ่ƒžๆตธๆฝคใจๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็พๅœจใฏ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ„ใใคใ‹ใฎ็–พๆ‚ฃ่ฒฌไปป้บไผๅญ็”ฃ็‰ฉใฎๆดปๆ€งใŒๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹๏ผˆhypomorphic๏ผ‰ๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹๏ผŒ - 2200697 - + + 31 + 1965ๅนดใซOmennใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŒๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็ถฒๅ†…็ณปใŠใ‚ˆใณ็šฎ่†šใฎ็ดฐ่ƒžๆตธๆฝคใจๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็พๅœจใฏ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ„ใใคใ‹ใฎ็–พๆ‚ฃ่ฒฌไปป้บไผๅญ็”ฃ็‰ฉใฎๆดปๆ€งใŒๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹๏ผˆhypomorphic๏ผ‰ๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹๏ผŒ + NANDO:2200697 + Omenn syndrome + ใŠใƒผใ‚ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค + - + Omenn็—‡ๅ€™็พค ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค - - 35 - PNPๆฌ ๆ็—‡ใฏ้žๅธธใซ็จ€ใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ๅŒๆง˜ใ€ๆ ธ้…ธไปฃ่ฌ็ตŒ่ทฏ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1975ๅนดใซGiblettใ‚‰ใฏADAๆฌ ๆ็—‡ใซ็ถšใใ€PNPๆฌ ๆ็—‡ใ‚‚ๅ…็–ซไธๅ…จใ‚’ๆƒน่ตทใ™ใ‚‹ใ“ใจใ‚’่ฆ‹ใ„ใ ใ—ใŸใ€‚่“„็ฉใ•ใ‚Œใ‚‹ไปฃ่ฌๆฏ’ๆ€ง็”ฃ็‰ฉใฎใŸใ‚ใ€ๅ…็–ซ็ณปใชใฉใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ใ‚ˆใ‚Šใ‚‚ไธ€่ˆฌใซๅ…็–ซไธๅ…จใฎ็จ‹ๅบฆใฏ่ปฝๅบฆใงๅคšๆง˜ๆ€งใŒใ‚ใ‚‹ใ€‚ - 2200698 - - purine nucleoside phosphorylase deficiency + + 35 + PNPๆฌ ๆ็—‡ใฏ้žๅธธใซ็จ€ใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ๅŒๆง˜ใ€ๆ ธ้…ธไปฃ่ฌ็ตŒ่ทฏ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1975ๅนดใซGiblettใ‚‰ใฏADAๆฌ ๆ็—‡ใซ็ถšใใ€PNPๆฌ ๆ็—‡ใ‚‚ๅ…็–ซไธๅ…จใ‚’ๆƒน่ตทใ™ใ‚‹ใ“ใจใ‚’่ฆ‹ใ„ใ ใ—ใŸใ€‚่“„็ฉใ•ใ‚Œใ‚‹ไปฃ่ฌๆฏ’ๆ€ง็”ฃ็‰ฉใฎใŸใ‚ใ€ๅ…็–ซ็ณปใชใฉใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ใ‚ˆใ‚Šใ‚‚ไธ€่ˆฌใซๅ…็–ซไธๅ…จใฎ็จ‹ๅบฆใฏ่ปฝๅบฆใงๅคšๆง˜ๆ€งใŒใ‚ใ‚‹ใ€‚ + NANDO:2200698 + + Purine nucleoside phosphorylase deficiency + ใทใ‚Šใ‚“ใฌใใ‚ŒใŠใ—ใฉใปใ™ใปใ‚Šใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + - + ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 34 - ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒCD๏ผ˜ใฎๆฌ ๅคฑใซใ‚ˆใ‚Š็ดฐ่ƒž้šœๅฎณๆ€งT็ดฐ่ƒžใฎๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ™๏ผŽ2001ๅนดใซใ‚นใƒšใ‚คใƒณใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒ CD8A้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸ๏ผŽ - 2200699 - + + 34 + ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒCD๏ผ˜ใฎๆฌ ๅคฑใซใ‚ˆใ‚Š็ดฐ่ƒž้šœๅฎณๆ€งT็ดฐ่ƒžใฎๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ™๏ผŽ2001ๅนดใซใ‚นใƒšใ‚คใƒณใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒ CD8A้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸ๏ผŽ + NANDO:2200699 + CD8 deficiency CD8ๆฌ ๆ็—‡ + ใ—ใƒผใงใƒใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - + + CD8ๆฌ ๆ็—‡ - - 33 - ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒT็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใŠใ‚ˆใณCD8้™ฝๆ€งT็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š๏ผŒ้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ1989ๅนดใซใ‚ซใƒŠใƒ€ใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒZAP70้บไผๅญใฎๅค‰็•ฐใŒ็ขบ่ชใ•ใ‚ŒใŸ๏ผŽ - 2200700 - + + 33 + ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒT็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใŠใ‚ˆใณCD8้™ฝๆ€งT็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š๏ผŒ้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ1989ๅนดใซใ‚ซใƒŠใƒ€ใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒZAP70้บไผๅญใฎๅค‰็•ฐใŒ็ขบ่ชใ•ใ‚ŒใŸ๏ผŽ + NANDO:2200700 + ZAP-70 deficiency ZAP-70ๆฌ ๆ็—‡ - + ใ–ใฃใท70ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + ZAP-70ๆฌ ๆ็—‡ - - 36 - MHCใ‚ฏใƒฉใ‚นI (HLA class I)ใฏๅ…จใฆใฎๆœ‰ๆ ธ็ดฐ่ƒžใฎ่กจ้ขใซ็™บ็พใ—ใ€ใ‚ฆใ‚ฃใƒซใ‚นใชใฉใฎๆŠ—ๅŽŸใƒšใƒ—ใƒใƒ‰ใ‚’CD8้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅƒใใ‚’ใ™ใ‚‹ใ€‚MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ใฏใ“ใฎๅˆ†ๅญใฎ็™บ็พใŒไฝŽไธ‹ใ™ใ‚‹็–พๆ‚ฃใงใ€Bare lymphocyte syndrome type Iใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 2200701 - - MHCใ‚ฏใƒฉใ‚นโ… ๆฌ ๆ็—‡ - major histocompatibility complex class I deficiency + + 36 + MHCใ‚ฏใƒฉใ‚นI (HLA class I)ใฏๅ…จใฆใฎๆœ‰ๆ ธ็ดฐ่ƒžใฎ่กจ้ขใซ็™บ็พใ—ใ€ใ‚ฆใ‚ฃใƒซใ‚นใชใฉใฎๆŠ—ๅŽŸใƒšใƒ—ใƒใƒ‰ใ‚’CD8้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅƒใใ‚’ใ™ใ‚‹ใ€‚MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ใฏใ“ใฎๅˆ†ๅญใฎ็™บ็พใŒไฝŽไธ‹ใ™ใ‚‹็–พๆ‚ฃใงใ€Bare lymphocyte syndrome type Iใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200701 + + MHC class I deficiency + MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ + ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - - MHCใ‚ฏใƒฉใ‚นโ… ๆฌ ๆ็—‡ - - - 37 - MHCใ‚ฏใƒฉใ‚นIIใฏๅ˜็ƒใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใ€ๆจน็Šถ็ดฐ่ƒžใ€B็ดฐ่ƒžใชใฉใฎๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใ€่ƒธ่…บไธŠ็šฎ็ดฐ่ƒžใซๆ’ๅธธ็š„ใซ็™บ็พใ—ใ€ๅค–ๆฅๆŠ—ๅŽŸ็”ฑๆฅใƒšใƒ—ใƒใƒ‰ใ‚’CD4้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ใฏ1978ๅนดใซๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆŠ—ๅŽŸๆ็คบใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚็ฒๅพ—ๅ…็–ซใŒ่ช˜ๅฐŽใ•ใ‚Œใšใ€ๆถฒๆ€งใƒป็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ€‚Bare lymphocte syndrome type IIใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 2200702 - - MHCใ‚ฏใƒฉใ‚นโ…กๆฌ ๆ็—‡ - major histocompatibility complex class II deficiency + + Major histocompatibility complex class I deficiency + + MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ + + + 37 + MHCใ‚ฏใƒฉใ‚นIIใฏๅ˜็ƒใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใ€ๆจน็Šถ็ดฐ่ƒžใ€B็ดฐ่ƒžใชใฉใฎๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใ€่ƒธ่…บไธŠ็šฎ็ดฐ่ƒžใซๆ’ๅธธ็š„ใซ็™บ็พใ—ใ€ๅค–ๆฅๆŠ—ๅŽŸ็”ฑๆฅใƒšใƒ—ใƒใƒ‰ใ‚’CD4้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ใฏ1978ๅนดใซๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆŠ—ๅŽŸๆ็คบใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚็ฒๅพ—ๅ…็–ซใŒ่ช˜ๅฐŽใ•ใ‚Œใšใ€ๆถฒๆ€งใƒป็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ€‚Bare lymphocte syndrome type IIใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200702 + + MHC class II deficiency + MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ + ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - - MHCใ‚ฏใƒฉใ‚นโ…กๆฌ ๆ็—‡ - - - 38 - ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆCID๏ผ‰ใฏT็ดฐ่ƒž็ณปใ€B็ดฐ่ƒž็ณปใฎไธก่€…ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ๅˆไฝตใ—ใŸ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚B็ดฐ่ƒžใซ็•ฐๅธธใŒใชใใฆใ‚‚ใ€B็ดฐ่ƒžใฎๆˆ็†Ÿใซใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใŒๅฟ…่ฆใชใŸใ‚ใ€ใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใฎ้šœๅฎณใฏ็ตๆžœใจใ—ใฆCIDใ‚’็คบใ™ใ€‚2014ๅนดใฎIUISๅ…็–ซไธๅ…จ็—‡ๅˆ†้กžใงใฏใ€CIDใจใ—ใฆ41็–พๆ‚ฃใ€ใใฎไธญใซ14ใฎ้‡็—‡่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆSCID๏ผ‰ใŒๅซใพใ‚Œใ€ใพใŸ็‰นๅพด็š„ใช็—‡็Šถใ‚’ใจใ‚‚ใชใ†CIDใจใ—ใฆ37็–พๆ‚ฃใŒๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200703 - + + Major histocompatibility complex class II deficiency + + MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ + + + 38 + ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆCID๏ผ‰ใฏT็ดฐ่ƒž็ณปใ€B็ดฐ่ƒž็ณปใฎไธก่€…ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ๅˆไฝตใ—ใŸ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚B็ดฐ่ƒžใซ็•ฐๅธธใŒใชใใฆใ‚‚ใ€B็ดฐ่ƒžใฎๆˆ็†Ÿใซใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใŒๅฟ…่ฆใชใŸใ‚ใ€ใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใฎ้šœๅฎณใฏ็ตๆžœใจใ—ใฆCIDใ‚’็คบใ™ใ€‚2014ๅนดใฎIUISๅ…็–ซไธๅ…จ็—‡ๅˆ†้กžใงใฏใ€CIDใจใ—ใฆ41็–พๆ‚ฃใ€ใใฎไธญใซ14ใฎ้‡็—‡่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆSCID๏ผ‰ใŒๅซใพใ‚Œใ€ใพใŸ็‰นๅพด็š„ใช็—‡็Šถใ‚’ใจใ‚‚ใชใ†CIDใจใ—ใฆ37็–พๆ‚ฃใŒๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200703 + + 1ใ‹ใ‚‰9ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† 1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ Other combined immunodeficiencies - - combined immunodeficiencies + + Combined immunodeficiencies 1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ - - 46 - Wiskott-Aldrich็—‡ๅ€™็พค๏ผˆไปฅไธ‹WASใจ็•ฅ๏ผ‰ใฏใ€ใ‚ตใ‚คใ‚บใฎๆธ›ๅฐ‘ใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆนฟ็–นใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’3ไธปๅพดใจใ—ใ€ไธปใซ็”ทๅ…ใซ็™บ็—‡ใ™ใ‚‹XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200704 - + + 46 + Wiskott-Aldrich็—‡ๅ€™็พค๏ผˆไปฅไธ‹WASใจ็•ฅ๏ผ‰ใฏใ€ใ‚ตใ‚คใ‚บใฎๆธ›ๅฐ‘ใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆนฟ็–นใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’3ไธปๅพดใจใ—ใ€ไธปใซ็”ทๅ…ใซ็™บ็—‡ใ™ใ‚‹XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200704 + Wiskott-Aldrich syndrome + ใ†ใƒใ™ใ“ใฃใจใƒปใŠใ‚‹ใฉใ‚Šใฃใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค + + - + Wiskott-Aldrich็—‡ๅ€™็พค ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค - - 55 - ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡(Ataxia Telangiectasiaใ€ไปฅไธ‹ATใจ็•ฅ)ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้‹ๅ‹•ๅคฑ่ชฟใจๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200705 - - ataxia telangiectasia + + 55 + ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡(Ataxia Telangiectasiaใ€ไปฅไธ‹ATใจ็•ฅ)ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้‹ๅ‹•ๅคฑ่ชฟใจๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200705 + + Ataxia telangiectasia + ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ† ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡ + - + - + ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡ - - 52 - ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200706 - + + 52 + ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200706 + Nijmegen breakage syndrome + ใชใ„ใฟใƒผใธใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใตใ‚ใ‚“ใฆใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค + + - + NijmegenๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค - - 54 - ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200707 - + + 54 + ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200707 + Bloom syndrome + ใถใ‚‹ใƒผใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค + - - + Bloom็—‡ๅ€™็พค ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค - - 45 - DNAใƒกใƒใƒซๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200708 - + + 45 + DNAใƒกใƒใƒซๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200708 + ICF syndrome ICF็—‡ๅ€™็พค + ใ‚ใ„ใ—ใƒผใˆใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + ICF็—‡ๅ€™็พค - - 53 - DNAใƒŸใ‚นใƒžใƒƒใƒไฟฎๅพฉใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200709 - + + 53 + DNAใƒŸใ‚นใƒžใƒƒใƒไฟฎๅพฉใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200709 + PMS2 deficiency PMS2็•ฐๅธธ็—‡ + ใดใƒผใˆใ‚€ใˆใ™2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + PMS2็•ฐๅธธ็—‡ - - 56 - ่›‹็™ฝใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200710 - + + 56 + ่›‹็™ฝใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200710 + RIDDLE syndrome RIDDLE็—‡ๅ€™็พค + ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + + Radiosensitivity, immunodeficiency dysmorphic features and learning difficulties syndrome RIDDLE็—‡ๅ€™็พค - - 50 - ๆŸ“่‰ฒไฝ“ใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจ้€ ่ก€ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200711 - + + 50 + ๆŸ“่‰ฒไฝ“ใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจ้€ ่ก€ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200711 + Schimke syndrome + ใ—ใ‚€ใ‘ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค + - + Schimke็—‡ๅ€™็พค ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค - - 48 - ๆŸ“่‰ฒไฝ“22q11.2 ใฎๅพฎ็ดฐๆฌ ๅคฑใ‚’ๅŸบ็›คใจใ—ใฆใ€่ƒธ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ่ก€็ฎก็ณป็•ฐๅธธใ€ๅ‰ฏ็”ฒ็Šถ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€็‰นๅพด็š„ใชๅฃ่“‹้ก”่ฒŒ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ - 2200712 - - thymus hypoplasia + + 48 + ๆŸ“่‰ฒไฝ“22q11.2 ใฎๅพฎ็ดฐๆฌ ๅคฑใ‚’ๅŸบ็›คใจใ—ใฆใ€่ƒธ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ่ก€็ฎก็ณป็•ฐๅธธใ€ๅ‰ฏ็”ฒ็Šถ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€็‰นๅพด็š„ใชๅฃ่“‹้ก”่ฒŒ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ + NANDO:2200712 + + Thymus hypoplasia + ใใ‚‡ใ†ใ›ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ ่ƒธ่…บไฝŽๅฝขๆˆ + + - + 22q11.2 deletion syndrome 22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค DiGeorge syndrome ใƒ‡ใ‚ฃใƒปใ‚ธใƒงใƒผใ‚ธ็—‡ๅ€™็พค + ่ƒธ่…บไฝŽๅฝขๆˆ - - 49 - ้ซ˜IgE็—‡ๅ€™็พคใฏใ€้ป„่‰ฒใƒ–ใƒ‰ใ‚ฆ็ƒ่Œใ‚’ไธญๅฟƒใจใ™ใ‚‹็ดฐ่ƒžๅค–ๅฏ„็”Ÿ็ดฐ่Œใซใ‚ˆใ‚‹็šฎ่†š่†ฟ็˜ใจ่‚บ็‚Žใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€่ก€ๆธ…IgEใฎ้ซ˜ๅ€คใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200713 - - hyper-IgE syndrome + + 49 + ้ซ˜IgE็—‡ๅ€™็พคใฏใ€้ป„่‰ฒใƒ–ใƒ‰ใ‚ฆ็ƒ่Œใ‚’ไธญๅฟƒใจใ™ใ‚‹็ดฐ่ƒžๅค–ๅฏ„็”Ÿ็ดฐ่Œใซใ‚ˆใ‚‹็šฎ่†š่†ฟ็˜ใจ่‚บ็‚Žใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€่ก€ๆธ…IgEใฎ้ซ˜ๅ€คใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200713 + + Hyper-IgE syndrome + ใ“ใ†ใ‚ใ„ใ˜ใƒผใ„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ซ˜IgE็—‡ๅ€™็พค + - + ้ซ˜IgE็—‡ๅ€™็พค - - 47 - ่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–ใจ่‚่„พ่…ซใŠใ‚ˆใณไบŒๆฌก็š„ใช่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ - 2200714 - - hepatic venoocclusive immunodeficiency + + 47 + ่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–ใจ่‚่„พ่…ซใŠใ‚ˆใณไบŒๆฌก็š„ใช่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ + NANDO:2200714 + + Hepatic veno-occlusive disease with immunodeficiency + ใ‹ใ‚“ใกใ‚…ใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† ่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡ + - + + VODI ่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡ - - 51 - ใƒ†ใƒญใƒกใ‚ข้•ทใฎ็ถญๆŒๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’่ƒŒๆ™ฏใจใ—ใ€็ˆชใฎ่Ž็ธฎใ€ๅฃ่…”ๅ†…็™ฝๆ–‘ใ€็šฎ่†š่‰ฒ็ด ๆฒˆ็€ใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„ใชๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ใฎไป–ใซ๏ผŒๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹Hoyeraal-Hreidarsson็—‡ๅ€™็พคใ€Revesz็—‡ๅ€™็พคใฎไป–ใ€ไธๅ…จๅž‹ใงใ‚ใ‚‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚„ๅฎถๆ—ๆ€ง่‚บ็ทš็ถญ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200715 - + + 51 + ใƒ†ใƒญใƒกใ‚ข้•ทใฎ็ถญๆŒๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’่ƒŒๆ™ฏใจใ—ใ€็ˆชใฎ่Ž็ธฎใ€ๅฃ่…”ๅ†…็™ฝๆ–‘ใ€็šฎ่†š่‰ฒ็ด ๆฒˆ็€ใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„ใชๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ใฎไป–ใซ๏ผŒๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹Hoyeraal-Hreidarsson็—‡ๅ€™็พคใ€Revesz็—‡ๅ€™็พคใฎไป–ใ€ไธๅ…จๅž‹ใงใ‚ใ‚‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚„ๅฎถๆ—ๆ€ง่‚บ็ทš็ถญ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200715 + dyskeratosis congenita + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ - + + ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ - - 2 - ็ดฐ่Œๆ„ŸๆŸ“ใซ็ฝนใ‚Šใ‚„ใ™ใใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgGใ€IgAใ€IgMใ€ใ™ในใฆใฎใ‚ฏใƒฉใ‚นใฎๅ€คใฎไฝŽไธ‹ใŒ่‘—ใ—ใใ€ๆœซๆขข่ก€B็ดฐ่ƒžๆฏ”็Ž‡ใŒ2%ไปฅไธ‹ใฎ็”ทๅญใฎๅ ดๅˆใ€X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆX-linked agammaglobulinemia: XLA๏ผ‰ใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ใ€‚ - 2200716 - - X-linked agammaglobulinaemia + + 2 + ็ดฐ่Œๆ„ŸๆŸ“ใซ็ฝนใ‚Šใ‚„ใ™ใใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgGใ€IgAใ€IgMใ€ใ™ในใฆใฎใ‚ฏใƒฉใ‚นใฎๅ€คใฎไฝŽไธ‹ใŒ่‘—ใ—ใใ€ๆœซๆขข่ก€B็ดฐ่ƒžๆฏ”็Ž‡ใŒ2%ไปฅไธ‹ใฎ็”ทๅญใฎๅ ดๅˆใ€X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆX-linked agammaglobulinemia: XLA๏ผ‰ใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ใ€‚ + NANDO:2200716 + + X-linked agammaglobulinemia X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚€ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† + - + + X-linked agammaglobulinaemia XLA X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ - - 7 - ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆcommon variable immunodeficiency: CVID๏ผ‰ใฏไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใŸใ‚ใซ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏ่ชใ‚ใ‚‰ใ‚Œใšใ€20๏ฝž40ไปฃใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅฐๅ…ใ‚„้ซ˜้ฝข่€…ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200717 - - common variable immunodeficiency + + 7 + ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆcommon variable immunodeficiency: CVID๏ผ‰ใฏไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใŸใ‚ใซ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏ่ชใ‚ใ‚‰ใ‚Œใšใ€20๏ฝž40ไปฃใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅฐๅ…ใ‚„้ซ˜้ฝข่€…ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200717 + + Common variable immunodeficiency + ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใŒใŸใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡ - + - + CVID ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡ - - 3 - B็ดฐ่ƒžใฎๅ†…ๅ› ๆ€งใฎใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๆธ…IgMๅ€คใŒๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚Šใ€ๆœ€่ฟ‘ใฏใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ็•ฐๅธธ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 2200718 - + + 3 + B็ดฐ่ƒžใฎๅ†…ๅ› ๆ€งใฎใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๆธ…IgMๅ€คใŒๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚Šใ€ๆœ€่ฟ‘ใฏใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ็•ฐๅธธ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200718 + Hyper-IgM syndrome + ใ“ใ†ใ‚ใ„ใ˜ใƒผใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ้ซ˜IgM็—‡ๅ€™็พค - + - + - ้ซ˜IgM็—‡ๅ€™็พค - - 1 - IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚น๏ผˆIgG1, IgG2, IgG3, IgG4๏ผ‰ใฎใ†ใก1ใคใชใ„ใ—ใฏใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใฎๆฌ ๆใชใ‚‰ใณใซไฝŽไธ‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚IgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚IgG2ๆฌ ๆ็—‡ใฏIgG4ๆฌ ๆ็—‡ใ€ใ•ใ‚‰ใซใฏIgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200719 - + + 1 + IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚น๏ผˆIgG1, IgG2, IgG3, IgG4๏ผ‰ใฎใ†ใก1ใคใชใ„ใ—ใฏใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใฎๆฌ ๆใชใ‚‰ใณใซไฝŽไธ‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚IgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚IgG2ๆฌ ๆ็—‡ใฏIgG4ๆฌ ๆ็—‡ใ€ใ•ใ‚‰ใซใฏIgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200719 + IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡ Isolated IgG subclass deficiency + ใ‚ใ„ใ˜ใƒผใ˜ใƒผใ•ใถใใ‚‰ใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡ - - 4 - ้ธๆŠž็š„IgAๆฌ ๆ็—‡ใฏ4ๆญณไปฅไธŠใง่ก€ๆธ…IgAๅ€คใŒ7mg/dLไปฅไธ‹ใงใ€่ก€ๆธ…IgGใŠใ‚ˆใณIgMๅ€คใŒๆญฃๅธธใชๆ‚ฃ่€…ใงใ‚ใ‚‹ใ€‚ - 2200720 - + + 4 + ้ธๆŠž็š„IgAๆฌ ๆ็—‡ใฏ4ๆญณไปฅไธŠใง่ก€ๆธ…IgAๅ€คใŒ7mg/dLไปฅไธ‹ใงใ€่ก€ๆธ…IgGใŠใ‚ˆใณIgMๅ€คใŒๆญฃๅธธใชๆ‚ฃ่€…ใงใ‚ใ‚‹ใ€‚ + NANDO:2200720 + Selective IgA deficiency - ้ธๆŠž็š„IgAๆฌ ๆ + ใ›ใ‚“ใŸใใฆใใ‚ใ„ใ˜ใƒผใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้ธๆŠž็š„IgAๆฌ ๆ็—‡ + - + - ้ธๆŠž็š„IgAๆฌ ๆ + ้ธๆŠž็š„IgAๆฌ ๆ็—‡ - - 5 - 2ๆญณไปฅไธŠใงใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใชใ‚‰ใณใซIgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใŒๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅคš็ณ–ไฝ“ๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹IgGๆŠ—ไฝ“ๅๅฟœใฎๆฌ ๅฆ‚ใฎใŸใ‚ใ€ๅๅพฉๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200721 - + + 5 + 2ๆญณไปฅไธŠใงใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใชใ‚‰ใณใซIgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใŒๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅคš็ณ–ไฝ“ๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹IgGๆŠ—ไฝ“ๅๅฟœใฎๆฌ ๅฆ‚ใฎใŸใ‚ใ€ๅๅพฉๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200721 + Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells + ใจใใ„ใ“ใ†ใŸใ„ใ•ใ‚“ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡ + - + + ็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡ - - 6 - 6ใ‹ๆœˆไปฅ้™ใฎไนณๅ…ใง่ก€ๆธ…IgGๅ€คใŒๅนด้ฝข็›ธๅฝ“ใฎ-2SDๆœชๆบ€ใงใ€IgAใŠใ‚ˆใณIgMใŒๆญฃๅธธใงใ‚ใ‚Šใ€ใใฎไป–ใฎๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใŒๅฆๅฎšใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ - 2200722 - - Transient hypogammaglobulinaemia of infancy with normal numbers of B cells + + 6 + 6ใ‹ๆœˆไปฅ้™ใฎไนณๅ…ใง่ก€ๆธ…IgGๅ€คใŒๅนด้ฝข็›ธๅฝ“ใฎ-2SDๆœชๆบ€ใงใ€IgAใŠใ‚ˆใณIgMใŒๆญฃๅธธใงใ‚ใ‚Šใ€ใใฎไป–ใฎๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใŒๅฆๅฎšใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ + NANDO:2200722 + + Transient hypogammaglobulinemia of infancy with normal numbers of B cells + ใซใ‚…ใ†ใ˜ใ„ใฃใ‹ใ›ใ„ใฆใ„ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ† ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ + - + + Transient hypogammaglobulinaemia of infancy with normal numbers of B cells + ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ - - 8 - ๅๅพฉๆ€งใฎไธŠไธ‹ๆฐ—้“ๆ„ŸๆŸ“ใฎๅญ˜ๅœจใ‹ใ‚‰ๆถฒๆ€งๅ…็–ซไธๅ…จ็—‡๏ผˆๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡๏ผ‰ใŒ็–‘ใ‚ใ‚Œใ‚‹ใŒใ€ๅ‰่ฟฐใฎใ‚ˆใ†ใชๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใชใ„็–พๆ‚ฃใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚ - 2200723 - + + 8 + ๅๅพฉๆ€งใฎไธŠไธ‹ๆฐ—้“ๆ„ŸๆŸ“ใฎๅญ˜ๅœจใ‹ใ‚‰ๆถฒๆ€งๅ…็–ซไธๅ…จ็—‡๏ผˆๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡๏ผ‰ใŒ็–‘ใ‚ใ‚Œใ‚‹ใŒใ€ๅ‰่ฟฐใฎใ‚ˆใ†ใชๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใชใ„็–พๆ‚ฃใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚ + NANDO:2200723 + + 23ใ‹ใ‚‰29ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใˆใใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใ—ใ‚…ใจใ™ใ‚‹ใ—ใฃใ‹ใ‚“ 23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ Other predominantly antibody deficiencies - + 23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ - - 43 - CHSใฏใ€็ดฐ่ƒžๅ†…่›‹็™ฝ่ผธ้€ใซใ‹ใ‹ใ‚ใ‚‹CHS1/LYST้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็™ฝ่ก€็ƒๅ†…ใฎๅทจๅคง้ก†็ฒ’ใ‚’็‰นๅพดใจใ—ใ€้ƒจๅˆ†็š„็™ฝๅญ็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใชใฉใ‚’็คบใ™ใ€‚ๆœ€่ฟ‘ใฏใ€็™ฝๅญ็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใฎไธ€ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200724 - - Chediak-Higashi syndrome + + 43 + CHSใฏใ€็ดฐ่ƒžๅ†…่›‹็™ฝ่ผธ้€ใซใ‹ใ‹ใ‚ใ‚‹CHS1/LYST้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็™ฝ่ก€็ƒๅ†…ใฎๅทจๅคง้ก†็ฒ’ใ‚’็‰นๅพดใจใ—ใ€้ƒจๅˆ†็š„็™ฝๅญ็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใชใฉใ‚’็คบใ™ใ€‚ๆœ€่ฟ‘ใฏใ€็™ฝๅญ็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใฎไธ€ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200724 + + Chรฉdiak-Higashi syndrome + ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค + + - - + CHS Chediak-Higashi็—‡ๅ€™็พค - ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค - - 41 - XLPใฏใ€EBใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹็‰น็•ฐ็š„ๅ…็–ซๅฟœ็ญ”ใฎๆฌ ้™ฅใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๅŽŸๅ› ้บไผๅญใŒ2ใค็Ÿฅใ‚‰ใ‚Œใ€SAP/SH2D1A้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹SAP (SLAM-associated protein) ๆฌ ๆ็—‡ใ‚’XLP1ใ€XIAP/BIRC4้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹XIAP (X-linked inhibitor of apoptosis) ๆฌ ๆ็—‡ใ‚’XLP2ใจๅ‘ผใถใ€‚ - 2200725 - + + 41 + XLPใฏใ€EBใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹็‰น็•ฐ็š„ๅ…็–ซๅฟœ็ญ”ใฎๆฌ ้™ฅใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๅŽŸๅ› ้บไผๅญใŒ2ใค็Ÿฅใ‚‰ใ‚Œใ€SAP/SH2D1A้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹SAP (SLAM-associated protein) ๆฌ ๆ็—‡ใ‚’XLP1ใ€XIAP/BIRC4้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹XIAP (X-linked inhibitor of apoptosis) ๆฌ ๆ็—‡ใ‚’XLP2ใจๅ‘ผใถใ€‚ + NANDO:2200725 + X-linked lymphoproliferative syndrome X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค - + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + XLP - - X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค - - 42 - ALPSใฏใ‚ขใƒใƒˆใƒผใ‚ทใ‚น๏ผˆ็ดฐ่ƒžๆญป๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใ‚Šใƒชใƒณใƒ‘็ƒๅข—ๆฎ–ใ‚’ใใŸใ—ใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ‚„่‚่„พ่…ซใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’็คบใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚FASไพๅญ˜ใฎ็ดฐ่ƒžๆญป็ตŒ่ทฏใซใ‹ใ‹ใ‚ใ‚‹FASใ€FASใƒชใ‚ฌใƒณใƒ‰ใ€ใ‚ซใ‚นใƒšใƒผใ‚น10ใฎ้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚CD3+ TCRฮฑฮฒ+ CD4- CD8- ใฎใƒ€ใƒ–ใƒซใƒใ‚ฌใƒ†ใ‚ฃใƒ–T็ดฐ่ƒžใฎๅข—ๅŠ ใŒ็‰น่‰ฒใงใ‚ใ‚‹ใ€‚ - 2200726 - - autoimmune lymphoproliferative syndrome + + 42 + ALPSใฏใ‚ขใƒใƒˆใƒผใ‚ทใ‚น๏ผˆ็ดฐ่ƒžๆญป๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใ‚Šใƒชใƒณใƒ‘็ƒๅข—ๆฎ–ใ‚’ใใŸใ—ใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ‚„่‚่„พ่…ซใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’็คบใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚FASไพๅญ˜ใฎ็ดฐ่ƒžๆญป็ตŒ่ทฏใซใ‹ใ‹ใ‚ใ‚‹FASใ€FASใƒชใ‚ฌใƒณใƒ‰ใ€ใ‚ซใ‚นใƒšใƒผใ‚น10ใฎ้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚CD3+ TCRฮฑฮฒ+ CD4- CD8- ใฎใƒ€ใƒ–ใƒซใƒใ‚ฌใƒ†ใ‚ฃใƒ–T็ดฐ่ƒžใฎๅข—ๅŠ ใŒ็‰น่‰ฒใงใ‚ใ‚‹ใ€‚ + NANDO:2200726 + + Autoimmune lymphoproliferative syndrome + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค - - + - + ALPS ALPS - ่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค - - 44 - ใ‚ญใƒฉใƒผ๏ผด็ดฐ่ƒžใ‚„NK็ดฐ่ƒžใฎๆ„ŸๆŸ“็ดฐ่ƒžใชใฉใฎๆŽ’้™คๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ…็–ซๅๅฟœใฎๅˆถๅพก็•ฐๅธธใŒใŠใใŸใ‚Šใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใซใ‚ˆใ‚Š่‡ชๅทฑๆŠ—ไฝ“็”ฃ็”Ÿใ‚’ใใŸใ™็–พๆ‚ฃใ‚’ๅซใ‚€ใ€‚2014ๅนดใฎIUISๅˆ†้กžใซใŠใ„ใฆใ€31ใ‹ใ‚‰33ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใจใ—ใฆใ€ไธ‹่จ˜ใŒใ‚ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใฏๆฏŽๅนดๆ–ฐใ—ใ„ๅŽŸๅ› ้บไผๅญใ‚„็–พๆ‚ฃใŒ่ฆ‹ๅ‡บใ•ใ‚ŒใฆใŠใ‚Šใ€ใใฎ้ƒฝๅบฆใ€ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ่ฟฝๅŠ ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ—ข็Ÿฅใฎ็–พๆ‚ฃใซๅฎŒๅ…จใซไธ€่‡ดใ—ใชใ„ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚„่จบๆ–ญใซใคใ„ใฆๅฐ‚้–€็š„ใชๆคœ่จŽใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใŒ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ€Primary Immunodeficiency Database in Japan (PIDJ) (http://pidj.rcai.riken.jp/) ใฎๆ‚ฃ่€…็›ธ่ซ‡ใƒ•ใ‚ฉใƒผใƒ ใง็›ธ่ซ‡ใ™ใ‚‹ใ“ใจใŒๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใจใใฎ้กž็ธ็–พๆ‚ฃใ€‚ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡๏ผˆFHL2๏ผ‰ใ€UNC13D/Munc13-4ๆฌ ๆ็—‡๏ผˆFHL3๏ผ‰ใ€Syntaxin11ๆฌ ๆ็—‡๏ผˆFHL4๏ผ‰ใ€STXBP2/Munc18-2ๆฌ ๆ็—‡๏ผˆFHL5๏ผ‰ใ€Gricelli็—‡ๅ€™็พค2ๅž‹ใ€Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พคใ€‚ITKๆฌ ๆ็—‡ใ€CD27ๆฌ ๆ็—‡ๅˆถๅพกๆ€งT็ดฐ่ƒžใฎ้บไผๅญ็š„ๆฌ ้™ฅใ€‚IPEX็—‡ๅ€™็พคใ€CD25ๆฌ ๆ็—‡ใ€STAT5bๆฌ ๆ็—‡ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ใ‚’ไผดใ‚ใชใ„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆAPECED๏ผ‰ใ€ITCHๆฌ ๆ็—‡่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค๏ผˆALPS๏ผ‰้กž็ธ็–พๆ‚ฃใ€‚ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ใ€FADDๆฌ ๆ็—‡ใ€CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใ€PRKCฮดๆฌ ๆ็—‡่…ธ็‚Žใ‚’ไผดใ†ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ€‚IL-10ๆฌ ๆ็—‡ใ€IL-10Rฮฑๆฌ ๆ็—‡ใ€IL-10Rฮฒๆฌ ๆ็—‡Iๅž‹ใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ็•ฐๅธธ็—‡ใ€‚TREX1ๆฌ ๆ็—‡๏ผˆAicardiโ€“Goutieres็—‡ๅ€™็พค1, AGS1๏ผ‰ใ€RNASEH2Bๆฌ ๆ็—‡๏ผˆAGS2๏ผ‰ใ€RNASEH2Cๆฌ ๆ็—‡๏ผˆAGS3๏ผ‰ใ€RNASEH2Aๆฌ ๆ็—‡๏ผˆAGS4a๏ผ‰ใ€SAMHD1ๆฌ ๆ็—‡๏ผˆAGS5๏ผ‰ใ€ADAR1ๆฌ ๆ็—‡๏ผˆAGS6๏ผ‰ใ€Spondylo enchondro-dysplasiawith immune dysregulation (SPENCD)ใ€‚ - 2200727 - + + 44 + ใ‚ญใƒฉใƒผ๏ผด็ดฐ่ƒžใ‚„NK็ดฐ่ƒžใฎๆ„ŸๆŸ“็ดฐ่ƒžใชใฉใฎๆŽ’้™คๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ…็–ซๅๅฟœใฎๅˆถๅพก็•ฐๅธธใŒใŠใใŸใ‚Šใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใซใ‚ˆใ‚Š่‡ชๅทฑๆŠ—ไฝ“็”ฃ็”Ÿใ‚’ใใŸใ™็–พๆ‚ฃใ‚’ๅซใ‚€ใ€‚2014ๅนดใฎIUISๅˆ†้กžใซใŠใ„ใฆใ€31ใ‹ใ‚‰33ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใจใ—ใฆใ€ไธ‹่จ˜ใŒใ‚ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใฏๆฏŽๅนดๆ–ฐใ—ใ„ๅŽŸๅ› ้บไผๅญใ‚„็–พๆ‚ฃใŒ่ฆ‹ๅ‡บใ•ใ‚ŒใฆใŠใ‚Šใ€ใใฎ้ƒฝๅบฆใ€ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ่ฟฝๅŠ ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ—ข็Ÿฅใฎ็–พๆ‚ฃใซๅฎŒๅ…จใซไธ€่‡ดใ—ใชใ„ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚„่จบๆ–ญใซใคใ„ใฆๅฐ‚้–€็š„ใชๆคœ่จŽใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใŒ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ€Primary Immunodeficiency Database in Japan (PIDJ) (http://pidj.rcai.riken.jp/) ใฎๆ‚ฃ่€…็›ธ่ซ‡ใƒ•ใ‚ฉใƒผใƒ ใง็›ธ่ซ‡ใ™ใ‚‹ใ“ใจใŒๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใจใใฎ้กž็ธ็–พๆ‚ฃใ€‚ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡๏ผˆFHL2๏ผ‰ใ€UNC13D/Munc13-4ๆฌ ๆ็—‡๏ผˆFHL3๏ผ‰ใ€Syntaxin11ๆฌ ๆ็—‡๏ผˆFHL4๏ผ‰ใ€STXBP2/Munc18-2ๆฌ ๆ็—‡๏ผˆFHL5๏ผ‰ใ€Gricelli็—‡ๅ€™็พค2ๅž‹ใ€Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พคใ€‚ITKๆฌ ๆ็—‡ใ€CD27ๆฌ ๆ็—‡ๅˆถๅพกๆ€งT็ดฐ่ƒžใฎ้บไผๅญ็š„ๆฌ ้™ฅใ€‚IPEX็—‡ๅ€™็พคใ€CD25ๆฌ ๆ็—‡ใ€STAT5bๆฌ ๆ็—‡ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ใ‚’ไผดใ‚ใชใ„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆAPECED๏ผ‰ใ€ITCHๆฌ ๆ็—‡่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค๏ผˆALPS๏ผ‰้กž็ธ็–พๆ‚ฃใ€‚ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ใ€FADDๆฌ ๆ็—‡ใ€CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใ€PRKCฮดๆฌ ๆ็—‡่…ธ็‚Žใ‚’ไผดใ†ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ€‚IL-10ๆฌ ๆ็—‡ใ€IL-10Rฮฑๆฌ ๆ็—‡ใ€IL-10Rฮฒๆฌ ๆ็—‡Iๅž‹ใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ็•ฐๅธธ็—‡ใ€‚TREX1ๆฌ ๆ็—‡๏ผˆAicardiโ€“Goutieres็—‡ๅ€™็พค1, AGS1๏ผ‰ใ€RNASEH2Bๆฌ ๆ็—‡๏ผˆAGS2๏ผ‰ใ€RNASEH2Cๆฌ ๆ็—‡๏ผˆAGS3๏ผ‰ใ€RNASEH2Aๆฌ ๆ็—‡๏ผˆAGS4a๏ผ‰ใ€SAMHD1ๆฌ ๆ็—‡๏ผˆAGS5๏ผ‰ใ€ADAR1ๆฌ ๆ็—‡๏ผˆAGS6๏ผ‰ใ€Spondylo enchondro-dysplasiawith immune dysregulation (SPENCD)ใ€‚ + NANDO:2200727 + + 31ใ‹ใ‚‰33ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ใ‚“ใˆใใกใ‚‡ใ†ใ›ใคใ—ใ‚‡ใ†ใŒใ„ 31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ Other diseases of immune dysregulation - + 31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ - - 44 - 2200728 - - FHL2 + + 44 + NANDO:2200728 + + perforin deficiency + ใฑใƒผใตใ‰ใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡ - - familial hemophagocytic lymphohistiocytosis 2 - perforin deficiency + + FHL type 2 + FHL2 + Familial hemophagocytic lymphohistiocytosis 2 ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡ - - 44 - 2200729 - - FHL3 + + 44 + NANDO:2200729 + + UNC13D/Munc13-4 deficiency UNC13D/Munc13-4ๆฌ ๆ็—‡ + ใ‚†ใƒผใˆใฌใ—ใƒผ13ใงใƒใƒผ/ใˆใ‚€ใ‚†ใƒผใˆใฌใ—ใƒผ13โˆ’4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - familial hemophagocytic lymphohistiocytosis 3 + + FHL type 3 + FHL3 + Familial hemophagocytic lymphohistiocytosis 3 UNC13D/Munc13-4ๆฌ ๆ็—‡ - - 44 - 2200730 - - FHL4 + + 44 + NANDO:2200730 + + Syntaxin 11 deficiency Syntaxin11ๆฌ ๆ็—‡ + ใ—ใ‚“ใŸใใ—ใ‚“11ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - familial hemophagocytic lymphohistiocytosis 4 + + FHL type 4 + FHL4 + Familial hemophagocytic lymphohistiocytosis 4 Syntaxin11ๆฌ ๆ็—‡ - - 44 - 2200731 - - FHL5 + + 44 + NANDO:2200731 + + STXBP2/Munc18-2 deficiency STXBP2/Munc18-2ๆฌ ๆ็—‡ + ใˆใ™ใฆใƒใƒผใˆใฃใใ™ใณใƒผใดใƒผ2/ใˆใ‚€ใ‚†ใƒผใˆใฌใ—ใƒผ18โˆ’2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - familial hemophagocytic lymphohistiocytosis 5 + + FHL type 5 + FHL5 + Familial hemophagocytic lymphohistiocytosis 5 STXBP2/Munc18-2ๆฌ ๆ็—‡ - - 44 - 2200732 - - Gricelli็—‡ๅ€™็พค2ๅž‹ - Griscelli syndromeย typeย 2 + + 44 + NANDO:2200732 + + Griscelli syndrome type 2 + Griscelli็—‡ๅ€™็พค2ๅž‹ + ใใ‚Šใ›ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ - + - Gricelli็—‡ๅ€™็พค2ๅž‹ + Griscelli็—‡ๅ€™็พค2ๅž‹ - - 44 - 2200733 - - Hermansky-Pudlak syndromeย typeย 2 + + 44 + NANDO:2200733 + + Hermansky-Pudlak syndrome type 2 Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ + ใธใ‚‹ใพใ‚“ใ™ใใƒผใฑใฉใ‚‰ใฃใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ - + HPS-2 Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ - - 44 - 2200734 - - IL-2-inducible T-cell kinaseย deficiency + + 44 + NANDO:2200734 + + IL-2-inducible T-cell kinase deficiency ITKๆฌ ๆ็—‡ + ใ‚ใ„ใฆใƒใƒผใ‘ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - ITKย deficiency + + ITK deficiency ITKๆฌ ๆ็—‡ - - 44 - 2200735 - + + 44 + NANDO:2200735 + CD27 deficiency CD27ๆฌ ๆ็—‡ - + ใ—ใƒผใงใƒใƒผ27ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - Combined immunodeficiency due toย CD27 deficiency - + + Combined immunodeficiency due to CD27 deficiency CD27ๆฌ ๆ็—‡ - - 44 - 2200736 - + + 44 + NANDO:2200736 + CD25ๆฌ ๆ็—‡ Immunodeficiency 41 with lymphoproliferation and autoimmunity + ใ—ใƒผใงใƒใƒผ25ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + CD25ๆฌ ๆ็—‡ - - 44 - 2200737 - + + 44 + NANDO:2200737 + Growth hormone insensitivity with immunodeficiency STAT5bๆฌ ๆ็—‡ - + ใˆใ™ใฆใƒใƒผใˆใƒผใฆใƒใƒผ5ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + STAT5b deficiency - STAT5bๆฌ ๆ็—‡ - - 44 - 2200738 - - APECED + + 44 + NANDO:2200738 + + Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใ›ใ‚“ใ›ใ„ใชใ„ใถใ‚“ใดใคใตใœใ‚“ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ - - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy + + APECED ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ - - 44 - 2200739 - + + 44 + NANDO:2200739 + ITCHๆฌ ๆ็—‡ Syndromic multisystem autoimmune disease due to Itch deficiency + ใ‚ใ„ใฆใƒใƒผใ—ใƒผใˆใ„ใกใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - ITCHย E3 ubiquitin ligaseย deficiency + + ITCH E3 ubiquitin ligase deficiency ITCHๆฌ ๆ็—‡ - - 44 - 2200740 - + + 44 + NANDO:2200740 + Caspase-8 deficiency + ใ‹ใ™ใบใƒผใ™8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ - + ALPS2B autoimmune lymphoproliferative syndrome type 2B ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ - - 44 - 2200741 - + + 44 + NANDO:2200741 + FADDๆฌ ๆ็—‡ - Fas-associated death domain proteinย deficiency + Fas-associated death domain protein deficiency + ใˆใตใˆใƒผใงใƒใƒผใงใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + + FADD deficiency FADD-related immunodeficiency - FADDย deficiency FADDๆฌ ๆ็—‡ - - 44 - 2200742 - + + 44 + NANDO:2200742 + CARD11 gain-of-function mutations CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ + ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ11ใใฎใ†ใ‹ใใจใใŒใŸใธใ‚“ใ„ - + CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ - - 44 - 2200743 - - PKCฮด deficiency + + 44 + NANDO:2200743 + + PKC-ฮด deficiency PRKCฮดๆฌ ๆ็—‡ + ใดใƒผใ‚ใƒผใ‚‹ใ‘ใƒผใ—ใƒผใงใ‚‹ใŸใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + ALPS3 CVID9 + PKC-delta deficiency PKCฮดๆฌ ๆ็—‡ PRKCฮดๆฌ ๆ็—‡ - - 44 - 2200744 - + + 44 + NANDO:2200744 + SPENCDI Spondylo enchondro-dysplasiawith immune dysregulation + ใˆใ™ใดใƒผใ„ใƒผใˆใฌใ—ใƒผใงใƒใƒผใ‚ใ„ - + SPENCDI SPENCDI - - 10 - ้ชจ้ซ„ใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใ€‚ไธญ่€ณ็‚Žใ€ๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่œ‚็ชฉ็น”็‚Žใ€็šฎ่†šๆ„ŸๆŸ“็—‡ใ‚’ๅๅพฉใ—ใ€ๆ™‚ใซๆ•—่ก€็—‡ใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่จบๆ–ญใฏ้ชจ้ซ„ๆคœๆŸปใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใงใ‚ใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใ€็—…ๅž‹ๅˆ†้กžใซใฏ้บไผๅญๅค‰็•ฐใฎๅŒๅฎšใŒๅฟ…่ฆใจใชใ‚‹ใ€‚STๅˆๅ‰คใฎไบˆ้˜ฒๆŠ•ไธŽใ‚„G-CSFใฎๆŠ•ไธŽใฏๆ„ŸๆŸ“้ ปๅบฆใฎๆธ›ๅฐ‘ใจๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใๆ”นๅ–„ใ™ใ‚‹ใ€‚ - 2200745 - - severe congenital neutropenia + + 10 + ้ชจ้ซ„ใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใ€‚ไธญ่€ณ็‚Žใ€ๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่œ‚็ชฉ็น”็‚Žใ€็šฎ่†šๆ„ŸๆŸ“็—‡ใ‚’ๅๅพฉใ—ใ€ๆ™‚ใซๆ•—่ก€็—‡ใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่จบๆ–ญใฏ้ชจ้ซ„ๆคœๆŸปใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใงใ‚ใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใ€็—…ๅž‹ๅˆ†้กžใซใฏ้บไผๅญๅค‰็•ฐใฎๅŒๅฎšใŒๅฟ…่ฆใจใชใ‚‹ใ€‚STๅˆๅ‰คใฎไบˆ้˜ฒๆŠ•ไธŽใ‚„G-CSFใฎๆŠ•ไธŽใฏๆ„ŸๆŸ“้ ปๅบฆใฎๆธ›ๅฐ‘ใจๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใๆ”นๅ–„ใ™ใ‚‹ใ€‚ + NANDO:2200745 + + Severe congenital neutropenia + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ + - + ้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - 9 - ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใผๅ…จไพ‹ใงๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ๏ผˆELANE๏ผ‰้บไผๅญใซๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚14๏ฝž35ๆ—ฅๅ‘จๆœŸ๏ผˆๅคšใใฏ21ๆ—ฅๅ‘จๆœŸ๏ผ‰ใงๅฅฝไธญ็ƒใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ้š›ใ€ๆ„ŸๆŸ“็—‡ใซ็ฝนๆ‚ฃใ™ใ‚‹ใŒ3ใ€œ5ๆ—ฅใงๅ›žๅพฉใ™ใ‚‹ใ€‚้€šๅธธใฏๅนด้ฝขใจๅ…ฑใซ่‡ช็„ถ่ปฝๅฟซใ™ใ‚‹่‰ฏๆ€ง็–พๆ‚ฃใงใ€ๆฒป็™‚ใจใ—ใฆใฏSTๅˆๅ‰คใซใ‚ˆใ‚‹ๆ„ŸๆŸ“ไบˆ้˜ฒใ‚„ๅฃ่…”ใ‚ฑใ‚ข็ญ‰ใฎๆ”ฏๆŒ็™‚ๆณ•ใŒใใฎไธปไฝ“ใจใชใ‚‹ใ€‚ - 2200746 - - cyclic neutropenia + + 9 + ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใผๅ…จไพ‹ใงๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ๏ผˆELANE๏ผ‰้บไผๅญใซๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚14๏ฝž35ๆ—ฅๅ‘จๆœŸ๏ผˆๅคšใใฏ21ๆ—ฅๅ‘จๆœŸ๏ผ‰ใงๅฅฝไธญ็ƒใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ้š›ใ€ๆ„ŸๆŸ“็—‡ใซ็ฝนๆ‚ฃใ™ใ‚‹ใŒ3ใ€œ5ๆ—ฅใงๅ›žๅพฉใ™ใ‚‹ใ€‚้€šๅธธใฏๅนด้ฝขใจๅ…ฑใซ่‡ช็„ถ่ปฝๅฟซใ™ใ‚‹่‰ฏๆ€ง็–พๆ‚ฃใงใ€ๆฒป็™‚ใจใ—ใฆใฏSTๅˆๅ‰คใซใ‚ˆใ‚‹ๆ„ŸๆŸ“ไบˆ้˜ฒใ‚„ๅฃ่…”ใ‚ฑใ‚ข็ญ‰ใฎๆ”ฏๆŒ็™‚ๆณ•ใŒใใฎไธปไฝ“ใจใชใ‚‹ใ€‚ + NANDO:2200746 + + Cyclic neutropenia + ใ—ใ‚…ใ†ใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ + - + ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - 11 - 2200747 - + + 11 + NANDO:2200747 + + 35ใŠใ‚ˆใณ36ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใฎใ‘ใ„ใ‹ใ‚’ใŸใฉใ‚‹ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† 35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ Other congenital defects of neutrophil function - + 35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - 11 - ๆœซๆขข่ก€ๅฅฝไธญ็ƒ็ตถๅฏพๆ•ฐใŒ500/ฮผLไปฅไธ‹ใŒ2๏ฝž3ใ‹ๆœˆๆŒ็ถšใ—ใ€่‡จๅบŠ็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€ๅคšใใฏไนณๅ…ๆœŸๅพŒๅŠใ‹ใ‚‰ๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆธ…ไธญใฎๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฏ้™ฝๆ€งใงใ‚ใ‚‹ใŒใ€ๆคœๆŸปๆณ•ใฎๆ„Ÿๅบฆใซใ‚ˆใฃใฆใฏ้™ฐๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็—‡ไพ‹ใงใ€ๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฎ่‡ช็„ถๆถˆๅคฑใซไผดใ„ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใฏ่ปฝๅฟซใ™ใ‚‹่‰ฏๅฅฝใช่‡จๅบŠ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ - 2200748 - + + 11 + ๆœซๆขข่ก€ๅฅฝไธญ็ƒ็ตถๅฏพๆ•ฐใŒ500/ฮผLไปฅไธ‹ใŒ2๏ฝž3ใ‹ๆœˆๆŒ็ถšใ—ใ€่‡จๅบŠ็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€ๅคšใใฏไนณๅ…ๆœŸๅพŒๅŠใ‹ใ‚‰ๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆธ…ไธญใฎๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฏ้™ฝๆ€งใงใ‚ใ‚‹ใŒใ€ๆคœๆŸปๆณ•ใฎๆ„Ÿๅบฆใซใ‚ˆใฃใฆใฏ้™ฐๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็—‡ไพ‹ใงใ€ๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฎ่‡ช็„ถๆถˆๅคฑใซไผดใ„ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใฏ่ปฝๅฟซใ™ใ‚‹่‰ฏๅฅฝใช่‡จๅบŠ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ + NANDO:2200748 + autoimmune neutropenia + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - AIN + + AIN ่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - 11 - C16ORF57ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅคšๅฝข็šฎ่†š่Ž็ธฎใ€็ˆช่‚ฅๅŽš็—‡ใ€ๆŽŒ่น ่ง’ๅŒ–็—‡ใ€ไฝŽ่บซ้•ทใ€้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ—ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎๅˆไฝตใ‚‚ใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200749 - + + 11 + C16ORF57ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅคšๅฝข็šฎ่†š่Ž็ธฎใ€็ˆช่‚ฅๅŽš็—‡ใ€ๆŽŒ่น ่ง’ๅŒ–็—‡ใ€ไฝŽ่บซ้•ทใ€้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ—ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎๅˆไฝตใ‚‚ใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200749 + Clericuzio-type poikiloderma with neutropenia syndrome + ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใใ‚Œใ‚Šใฃใใ˜ใŠใŒใŸใŸใ‘ใ„ใฒใตใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ - + PN ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ - - 11 - COH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€็ถฒ่†œ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200750 - + + 11 + COH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€็ถฒ่†œ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200750 + Cohen็—‡ๅ€™็พค cohen syndrome + ใ“ใƒผใˆใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + Cohen็—‡ๅ€™็พค - - 11 - Tafazzin๏ผˆTAZ๏ผ‰ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅฟƒ็ญ‹็—‡ใ€ๆˆ้•ท้…ๆปžใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200751 - - Bart syndrome + + 11 + Tafazzin๏ผˆTAZ๏ผ‰ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅฟƒ็ญ‹็—‡ใ€ๆˆ้•ท้…ๆปžใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200751 + + Barth syndrome Barth็—‡ๅ€™็พค + ใฐใƒผใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + - + + Barth็—‡ๅ€™็พค - - 11 - ใ‚จใƒณใƒ‰ใ‚ฝใƒผใƒ ใ‚ขใƒ€ใƒ—ใ‚ฟใƒผ่›‹็™ฝใงใ‚ใ‚‹p14ใฎๆฌ ๆใซใ‚ˆใ‚Š้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€CD8T็ดฐ่ƒžใฎ็ดฐ่ƒž้šœๅฎณๆ€งไฝŽไธ‹ใ€้™ๅฑ€ๆ€งใฎ็™ฝ็šฎ็—‡ใ€ๆˆ้•ท้šœๅฎณใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200752 - + + 11 + ใ‚จใƒณใƒ‰ใ‚ฝใƒผใƒ ใ‚ขใƒ€ใƒ—ใ‚ฟใƒผ่›‹็™ฝใงใ‚ใ‚‹p14ใฎๆฌ ๆใซใ‚ˆใ‚Š้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€CD8T็ดฐ่ƒžใฎ็ดฐ่ƒž้šœๅฎณๆ€งไฝŽไธ‹ใ€้™ๅฑ€ๆ€งใฎ็™ฝ็šฎ็—‡ใ€ๆˆ้•ท้šœๅฎณใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200752 + P14 deficiency P14ๆฌ ๆ็—‡ + ใดใƒผ14ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - + + P14ๆฌ ๆ็—‡ - - 11 - Wiskot-Aldrich็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใงใ‚ใ‚‹WASใฎๆ’ๅธธๆดปๆ€งๅŒ–ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใจใจใ‚‚ใซๅ˜็ƒๆธ›ๅฐ‘ใ‚„้ชจ้ซ„็•ฐๅฝขๆˆใ‚’ไผดใ†ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200753 - + + 11 + Wiskot-Aldrich็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใงใ‚ใ‚‹WASใฎๆ’ๅธธๆดปๆ€งๅŒ–ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใจใจใ‚‚ใซๅ˜็ƒๆธ›ๅฐ‘ใ‚„้ชจ้ซ„็•ฐๅฝขๆˆใ‚’ไผดใ†ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200753 + X linked severe congenital neutropenia X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† - + X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ - - 11 - ใ‚ฐใƒซใ‚ณใƒผใ‚น6ใƒชใƒณ้…ธใƒˆใƒฉใƒณใ‚นใ‚ซใƒญใƒฉใƒผใ‚ผ๏ผˆG6PT1๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ไปฃ่ฌๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€ไฝŽ่ก€็ณ–ใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’ๆฅใ™ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ - 2200754 - - Glycogen storage disease type 1B - ็ณ–ๅŽŸ็—…1bๅž‹ + + 11 + ใ‚ฐใƒซใ‚ณใƒผใ‚น6ใƒชใƒณ้…ธใƒˆใƒฉใƒณใ‚นใ‚ซใƒญใƒฉใƒผใ‚ผ๏ผˆG6PT1๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ไปฃ่ฌๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€ไฝŽ่ก€็ณ–ใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’ๆฅใ™ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ + NANDO:2200754 + + Glycogen storage disease type 1b + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ + ็ณ–ๅŽŸ็—…Ibๅž‹ + - + - ็ณ–ๅŽŸ็—…1bๅž‹ - - - 13 - ็™ฝ่ก€็ƒใซใŠใ‘ใ‚‹ๆŽฅ็€ๅˆ†ๅญใงใ‚ใ‚‹๏ข2ใ‚คใƒณใƒ†ใ‚ฐใƒชใƒณใ‚„ใ‚ปใƒฌใ‚ฏใƒใƒณใƒชใ‚ฌใƒณใƒ‰ใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใ€‚ๆŽฅ็€ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๆ„ŸๆŸ“้ƒจไฝใธใฎ็™ฝ่ก€็ƒๆตธๆฝคใŒไธ่ƒฝใจใชใ‚Šใ€ๆ„ŸๆŸ“็—‡ใŒ้ทๅปถใ™ใ‚‹ใ€‚็ดฐ่Œใ€็œŸ่Œใซใ‚ˆใ‚‹้›ฃๆฒปๆ€ง็šฎ่†š็‚Žใ€ไธญ่€ณ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏ่ปฝๅบฆใ‹ใ‚‰ไธญ็จ‹ๅบฆใงใ‚ใ‚ŒใฐๆŠ—่Œๅ‰ค็ญ‰ใฎๅฏพๅ‡ฆ็™‚ๆณ•ใ‚’่กŒใ†ใŒใ€้‡็—‡ใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ - 2200755 - - leukocyte adhesion deficiency + ็ณ–ๅŽŸ็—…Ibๅž‹ + + + 13 + ็™ฝ่ก€็ƒใซใŠใ‘ใ‚‹ๆŽฅ็€ๅˆ†ๅญใงใ‚ใ‚‹๏ข2ใ‚คใƒณใƒ†ใ‚ฐใƒชใƒณใ‚„ใ‚ปใƒฌใ‚ฏใƒใƒณใƒชใ‚ฌใƒณใƒ‰ใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใ€‚ๆŽฅ็€ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๆ„ŸๆŸ“้ƒจไฝใธใฎ็™ฝ่ก€็ƒๆตธๆฝคใŒไธ่ƒฝใจใชใ‚Šใ€ๆ„ŸๆŸ“็—‡ใŒ้ทๅปถใ™ใ‚‹ใ€‚็ดฐ่Œใ€็œŸ่Œใซใ‚ˆใ‚‹้›ฃๆฒปๆ€ง็šฎ่†š็‚Žใ€ไธญ่€ณ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏ่ปฝๅบฆใ‹ใ‚‰ไธญ็จ‹ๅบฆใงใ‚ใ‚ŒใฐๆŠ—่Œๅ‰ค็ญ‰ใฎๅฏพๅ‡ฆ็™‚ๆณ•ใ‚’่กŒใ†ใŒใ€้‡็—‡ใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ + NANDO:2200755 + + Leukocyte adhesion deficiency + ใฏใฃใ‘ใฃใใ‚…ใ†ใ›ใฃใกใ‚ƒใใตใœใ‚“ใ—ใ‚‡ใ† ็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡ - + - + LAD - ็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡ - - 12 - ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค๏ผˆShwachman-Diamond syndrome: SDS๏ผ‰ใฏ่†ตๅค–ๅˆ†ๆณŒใฎ็•ฐๅธธใจ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจๆ ผ็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒชใƒœใ‚ฝใƒผใƒ ็”Ÿๆˆใซ้–ขไธŽใ™ใ‚‹SBDS่›‹็™ฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใฏ่†ต้…ต็ด ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใฎ่ฃœๅ……ใ€่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใซๅฏพใ—ใฆใฏ่ผธ่ก€ใ€้‡็—‡ไพ‹ใงใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ - 2200756 - + + 12 + ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค๏ผˆShwachman-Diamond syndrome: SDS๏ผ‰ใฏ่†ตๅค–ๅˆ†ๆณŒใฎ็•ฐๅธธใจ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจๆ ผ็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒชใƒœใ‚ฝใƒผใƒ ็”Ÿๆˆใซ้–ขไธŽใ™ใ‚‹SBDS่›‹็™ฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใฏ่†ต้…ต็ด ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใฎ่ฃœๅ……ใ€่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใซๅฏพใ—ใฆใฏ่ผธ่ก€ใ€้‡็—‡ไพ‹ใงใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200756 + Shwachman-Diamond syndrome + ใ—ใ‚…ใ‚ใฃใฏใพใ‚“ใƒปใ ใ„ใ‚ใ‚‚ใ‚“ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค - + - + SDS Shwachman-Diamond็—‡ๅ€™็พค - ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค - - 14 - ้ฃŸ็ดฐ่ƒžใฎๆฎบ่Œ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็ดฐ่Œใ‚„็œŸ่Œใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚ใพใŸใ€ๅ…็–ซๅฟœ็ญ”ใฎๅˆถๅพก็•ฐๅธธใ‚’่ชใ‚ใ€้Žๅ‰ฐใช็‚Ž็—‡ๅๅฟœใŒ้ทๅปถใ—่‚‰่Šฝ่…ซๅฝขๆˆใ‚„่‚‰่Šฝ่…ซๆ€ง่…ธ็‚Žใ‚’ใใŸใ™ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰คๆŠ•ไธŽใชใฉใŒไธปไฝ“ใจใชใ‚‹ใŒใ€้‡ๅบฆใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ - 2200757 - + + 14 + ้ฃŸ็ดฐ่ƒžใฎๆฎบ่Œ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็ดฐ่Œใ‚„็œŸ่Œใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚ใพใŸใ€ๅ…็–ซๅฟœ็ญ”ใฎๅˆถๅพก็•ฐๅธธใ‚’่ชใ‚ใ€้Žๅ‰ฐใช็‚Ž็—‡ๅๅฟœใŒ้ทๅปถใ—่‚‰่Šฝ่…ซๅฝขๆˆใ‚„่‚‰่Šฝ่…ซๆ€ง่…ธ็‚Žใ‚’ใใŸใ™ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰คๆŠ•ไธŽใชใฉใŒไธปไฝ“ใจใชใ‚‹ใŒใ€้‡ๅบฆใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ + NANDO:2200757 + Chronic granulomatous disease + ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ - - + - + CGD - ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ - - 15 - ๅฅฝไธญ็ƒใฎใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆMPO๏ผ‰ใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏ่ปฝๅบฆใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๅ†…ๆฎบ่Œไฝœ็”จใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ—ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200758 - - myeloperoxidase deficiency + + 15 + ๅฅฝไธญ็ƒใฎใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆMPO๏ผ‰ใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏ่ปฝๅบฆใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๅ†…ๆฎบ่Œไฝœ็”จใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ—ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200758 + + Myeloperoxidase deficiency + ใฟใˆใ‚ใบใ‚‹ใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ + - - + ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ - - 16 - BCGใ‚„้žๅฎšๅž‹ๆŠ—้…ธ่Œใชใฉๅผฑๆฏ’ๆŠ—้…ธ่Œใซๅฏพใ—ใฆ้ธๆŠž็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ—ใ€็ตๆ ธ่Œใ‚„ใ‚ตใƒซใƒขใƒใƒฉใชใฉใฎ็ดฐ่ƒžๅ†…ๅฏ„็”Ÿ่Œใซๅฏพใ—ใฆ้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’ใใŸใ™ใ€‚ใ“ใฎใŸใ‚ใ€ไป–ใฎ็ดฐ่Œใ‚„็œŸ่Œใ€ใ‚ฆใ‚คใƒซใ‚นใชใฉใซๅฏพใ—ใฆใฏๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ•ใชใ„ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰ค๏ผˆๆŠ—็ตๆ ธ็ด„๏ผ‰็ญ‰ใฎๅ†…็ง‘็š„ๆฒป็™‚ใŒไธปไฝ“ใจใชใ‚‹ใ€‚ - 2200759 - + + 16 + BCGใ‚„้žๅฎšๅž‹ๆŠ—้…ธ่Œใชใฉๅผฑๆฏ’ๆŠ—้…ธ่Œใซๅฏพใ—ใฆ้ธๆŠž็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ—ใ€็ตๆ ธ่Œใ‚„ใ‚ตใƒซใƒขใƒใƒฉใชใฉใฎ็ดฐ่ƒžๅ†…ๅฏ„็”Ÿ่Œใซๅฏพใ—ใฆ้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’ใใŸใ™ใ€‚ใ“ใฎใŸใ‚ใ€ไป–ใฎ็ดฐ่Œใ‚„็œŸ่Œใ€ใ‚ฆใ‚คใƒซใ‚นใชใฉใซๅฏพใ—ใฆใฏๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ•ใชใ„ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰ค๏ผˆๆŠ—็ตๆ ธ็ด„๏ผ‰็ญ‰ใฎๅ†…็ง‘็š„ๆฒป็™‚ใŒไธปไฝ“ใจใชใ‚‹ใ€‚ + NANDO:2200759 + Mendelian susceptibility to mycobacterial disease + ใ‚ใ‚“ใงใ‚‹ใ„ใงใ‚“ใŒใŸใพใ„ใ“ใฐใใฆใ‚Šใ‚ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡ + - + MSMD ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡ - - 17 - CGDใ€MPOๆฌ ๆ็—‡ใ€MSMDไปฅๅค–ใซใ‚‚็™ฝ่ก€็ƒใฎๆฉŸ่ƒฝ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200760 - + + 17 + CGDใ€MPOๆฌ ๆ็—‡ใ€MSMDไปฅๅค–ใซใ‚‚็™ฝ่ก€็ƒใฎๆฉŸ่ƒฝ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200760 + + 38ใ‹ใ‚‰42ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฏใฃใ‘ใฃใใ‚…ใ†ใใฎใ†ใ„ใ˜ใ‚‡ใ† 38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ Other congenital defects of phagocyte function - + 38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ - - 24 - ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ๏ผˆๆญฏ็‰™ๆฌ ๆ๏ผ่Œๅ‡บไธๅ…จใƒปๅ††้Œ็Šถๆญฏใ€็™บๆฑ—ไฝŽไธ‹ใ‚„็„กๆฑ—็—‡ใ€็ฒ—ใช้ ญ้ซชใ‚„็œ‰ๆฏ›๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใ‚„ๅคง็†็Ÿณ้ชจ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Š่‡จๅบŠๅƒใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚NF-ฮบBใ‚ทใ‚ฐใƒŠใƒซไผ้”้šœๅฎณใŒๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉใŒNEMO้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใŒใ€IฮบBฮฑ้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ช็„ถๅ…็–ซใ€็ดฐ่ƒžๆ€งๅ…็–ซใ€ๆถฒๆ€งๅ…็–ซใฎใ„ใšใ‚Œใซใ‚‚็จฎใ€…ใฎ็จ‹ๅบฆใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ใ„ใ‚ใ„ใ‚ใช็—…ๅŽŸไฝ“ใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ใƒ˜ใƒซใƒšใ‚นๅฑžใ‚ฆใ‚คใƒซใ‚นใ‚„ๆŠ—้…ธ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ‹ใƒฅใƒผใƒขใ‚ทใ‚นใƒ†ใ‚ฃใ‚น่‚บ็‚Ž็ญ‰ใงใฏ้‡็—‡ๅŒ–ใ—ใ‚„ใ™ใใ€ๆญปไบกใ™ใ‚‹ๅ ดๅˆใ‚‚ๅฐ‘ใชใใชใ„ใ€‚็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใฎๅˆไฝต้ ปๅบฆใŒ้ซ˜ใใ€้›ฃๆฒปๆ€งใงใ‚ใ‚‹ใ€‚ - 2200761 - + + 24 + ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ๏ผˆๆญฏ็‰™ๆฌ ๆ๏ผ่Œๅ‡บไธๅ…จใƒปๅ††้Œ็Šถๆญฏใ€็™บๆฑ—ไฝŽไธ‹ใ‚„็„กๆฑ—็—‡ใ€็ฒ—ใช้ ญ้ซชใ‚„็œ‰ๆฏ›๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใ‚„ๅคง็†็Ÿณ้ชจ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Š่‡จๅบŠๅƒใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚NF-ฮบBใ‚ทใ‚ฐใƒŠใƒซไผ้”้šœๅฎณใŒๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉใŒNEMO้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใŒใ€IฮบBฮฑ้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ช็„ถๅ…็–ซใ€็ดฐ่ƒžๆ€งๅ…็–ซใ€ๆถฒๆ€งๅ…็–ซใฎใ„ใšใ‚Œใซใ‚‚็จฎใ€…ใฎ็จ‹ๅบฆใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ใ„ใ‚ใ„ใ‚ใช็—…ๅŽŸไฝ“ใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ใƒ˜ใƒซใƒšใ‚นๅฑžใ‚ฆใ‚คใƒซใ‚นใ‚„ๆŠ—้…ธ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ‹ใƒฅใƒผใƒขใ‚ทใ‚นใƒ†ใ‚ฃใ‚น่‚บ็‚Ž็ญ‰ใงใฏ้‡็—‡ๅŒ–ใ—ใ‚„ใ™ใใ€ๆญปไบกใ™ใ‚‹ๅ ดๅˆใ‚‚ๅฐ‘ใชใใชใ„ใ€‚็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใฎๅˆไฝต้ ปๅบฆใŒ้ซ˜ใใ€้›ฃๆฒปๆ€งใงใ‚ใ‚‹ใ€‚ + NANDO:2200761 + Anhidrotic ectodermal dysplasia with immunodeficiency + ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡ - + - + EDA-ID - ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡ - - 21 - ็ฒๅพ—ๅ…็–ซใŒๆœช็†Ÿใงใ‚ใ‚‹ไนณๅนผๅ…ๆœŸใซใ€่‚บ็‚Ž็ƒ่Œใชใฉใซใ‚ˆใ‚‹invasive bacterial infection๏ผˆไพต่ฅฒๆ€งๆ„ŸๆŸ“็—‡๏ผ‰ใ‚’่ตทใ“ใ—ใ‚„ใ™ใใ€ๆญปไบก็Ž‡ใŒ้ซ˜ใ„ใ€‚ไนณๅนผๅ…ๆœŸใฎๆ„ŸๆŸ“็—‡ๅฏพ็ญ–ใŒๆฅตใ‚ใฆ้‡่ฆใงใ‚ใ‚‹ใ€‚ - 2200762 - + + 21 + ็ฒๅพ—ๅ…็–ซใŒๆœช็†Ÿใงใ‚ใ‚‹ไนณๅนผๅ…ๆœŸใซใ€่‚บ็‚Ž็ƒ่Œใชใฉใซใ‚ˆใ‚‹invasive bacterial infection๏ผˆไพต่ฅฒๆ€งๆ„ŸๆŸ“็—‡๏ผ‰ใ‚’่ตทใ“ใ—ใ‚„ใ™ใใ€ๆญปไบก็Ž‡ใŒ้ซ˜ใ„ใ€‚ไนณๅนผๅ…ๆœŸใฎๆ„ŸๆŸ“็—‡ๅฏพ็ญ–ใŒๆฅตใ‚ใฆ้‡่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200762 + IRAK4 deficiency IRAK4ๆฌ ๆ็—‡ + ใ‚ใ„ใ‚‰ใฃใ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + IRAK4ๆฌ ๆ็—‡ - - 23 - IRAK4ๆฌ ๆ็—‡ใฎ้ …ใ‚’ๅ‚็…งใ€‚่‡จๅบŠๅƒใงใฏIRAK4ๆฌ ๆ็—‡ใจๅŒบๅˆฅใงใใชใ„ใ€‚ - 2200763 - + + 23 + IRAK4ๆฌ ๆ็—‡ใฎ้ …ใ‚’ๅ‚็…งใ€‚่‡จๅบŠๅƒใงใฏIRAK4ๆฌ ๆ็—‡ใจๅŒบๅˆฅใงใใชใ„ใ€‚ + NANDO:2200763 + MyD88 deficiency MyD88ๆฌ ๆ็—‡ + ใฟใฃใฉ88 / ใพใ„ใงใƒใƒผ88ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + MyD88ๆฌ ๆ็—‡ - - 22 - ็šฎ่†šใ€็ˆชใ€็ฒ˜่†œใชใฉใฎๅ†็™บๆ€งใ€้›ฃๆฒปๆ€งใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚้€šๅธธใฏๆ…ขๆ€งใซๆŒ็ถšใ™ใ‚‹่กจๅœจๆ€งใฎ็œŸ่Œๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚้บไผๆ€งใฎใ‚‚ใฎใซใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ - 2200764 - - chronic mucocutaneous candidiasis + + 22 + ็šฎ่†šใ€็ˆชใ€็ฒ˜่†œใชใฉใฎๅ†็™บๆ€งใ€้›ฃๆฒปๆ€งใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚้€šๅธธใฏๆ…ขๆ€งใซๆŒ็ถšใ™ใ‚‹่กจๅœจๆ€งใฎ็œŸ่Œๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚้บไผๆ€งใฎใ‚‚ใฎใซใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200764 + + Chronic mucocutaneous candidiasis + ใพใ‚“ใ›ใ„ใฒใตใญใ‚“ใพใใ‹ใ‚“ใ˜ใ ใ—ใ‚‡ใ† ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ - - + - + CMC - ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ - - 25 - ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200765 - + + 25 + NANDO:2200765 + + 44ใ‹ใ‚‰47ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใœใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ† 44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ Other defects in innate immunity - + 44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ - - 25 - ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200766 - + + 25 + ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200766 + HOIL-1 deficiency HOIL1ๆฌ ๆ็—‡ + ใˆใ„ใกใŠใƒผใ‚ใ„ใˆใ‚‹1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + HOIL1ๆฌ ๆ็—‡ - - 25 - ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚CXC chemokine receptor 4๏ผˆCRCR4๏ผ‰้บไผๅญใฎgain-of-function้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใ€‚WHIMใฏใ€ใ“ใฎ็–พๆ‚ฃใฎ่‡จๅบŠๅƒใฎ็‰นๅพดใงใ‚ใ‚‹Wartsใ€Hypogammaglobulinemiaใ€recurrent bacterial Infectionsใ€Myelokathexisใฎ็•ฅใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸใ‹ใ‚‰่‚บ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ€ไธญ่€ณ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€ๆญฏๅ‘จ็‚Žใชใฉใฎ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่ตท็‚Ž่Œใฏไธ€่ˆฌ็ดฐ่Œใงใ‚ใ‚Šใ€ๆŠ—็”Ÿๅ‰คใซๆฏ”่ผƒ็š„ใ‚ˆใๅๅฟœใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚10ไปฃใซใชใ‚‹ใจใ€ใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹็–ฃ่ด…ใŒๅคš็™บใ™ใ‚‹ใ‚ˆใ†ใซใชใ‚‹ใŒใ€10ไปฃไปฅๅ‰ใซใŠใ“ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€็–ฃ่ด…ใฎใชใ„ๆ‚ฃ่€…ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไป–ใฎใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹ๆ˜“ๆ„ŸๆŸ“ๆ€งใฏใชใ„ใ€‚ - 2200767 - + + 25 + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚CXC chemokine receptor 4๏ผˆCRCR4๏ผ‰้บไผๅญใฎgain-of-function้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใ€‚WHIMใฏใ€ใ“ใฎ็–พๆ‚ฃใฎ่‡จๅบŠๅƒใฎ็‰นๅพดใงใ‚ใ‚‹Wartsใ€Hypogammaglobulinemiaใ€recurrent bacterial Infectionsใ€Myelokathexisใฎ็•ฅใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸใ‹ใ‚‰่‚บ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ€ไธญ่€ณ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€ๆญฏๅ‘จ็‚Žใชใฉใฎ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่ตท็‚Ž่Œใฏไธ€่ˆฌ็ดฐ่Œใงใ‚ใ‚Šใ€ๆŠ—็”Ÿๅ‰คใซๆฏ”่ผƒ็š„ใ‚ˆใๅๅฟœใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚10ไปฃใซใชใ‚‹ใจใ€ใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹็–ฃ่ด…ใŒๅคš็™บใ™ใ‚‹ใ‚ˆใ†ใซใชใ‚‹ใŒใ€10ไปฃไปฅๅ‰ใซใŠใ“ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€็–ฃ่ด…ใฎใชใ„ๆ‚ฃ่€…ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไป–ใฎใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹ๆ˜“ๆ„ŸๆŸ“ๆ€งใฏใชใ„ใ€‚ + NANDO:2200767 + WHIM syndrome WHIM็—‡ๅ€™็พค + ใ ใถใ‚‹ใˆใ„ใกใ‚ใ„ใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - - and myelokathexis - Warts - ย hypogammaglobulinemia - ย infections + + Warts, hypogammaglobulinemia, infections, and myelokathexis - - WHIM็—‡ๅ€™็พค - - 25 - EVER1ใ‚ใ‚‹ใ„ใฏEVER2ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚ใ‚‹ใ„ใฏX้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ ดๅˆใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚EVER้บไผๅญใฏใ€่†œ่ฒซ้€š่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ไบœ้‰›ใฎhomeostasisใซ้‡่ฆใชๅƒใใ‚’ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€EVER่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใฃใฆใ‚ฆใ‚คใƒซใ‚น้บไผๅญใ€็‰นใซpro-oncogeneใงใ‚ใ‚‹E6ใ‚„E7ใฎ็™บ็พใŒไบข้€ฒใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใฏ้›ฃๆฒปๆ€งใƒปๆ’ญ็จฎๆ€งใงใ‚ใ‚‹ใ€‚้€šๅธธไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็šฎ่†š็™Œใ‚’้ซ˜็Ž‡ใซๅˆไฝตใ™ใ‚‹ใ€‚็šฎ็–น็—…ๅค‰ใฏๆ‰‹่ƒŒใ‚„้กใ‹ใ‚‰ใฏใ˜ใพใ‚Šใ€ๆฌก็ฌฌใซๅ››่‚ขใ€้ฆ–ใ€่บฏๅนนใซ้€ฒๅฑ•ใ—ใฆใ„ใใ€‚่บฏๅนนใ€้ฆ–ใ€ๅ››่‚ขใซใŠใ“ใ‚‹ใ‚‚ใฎใฏใ€ๅนณๅฆใ€็–ฃ่ด…็Šถใ€ไฝŽ่‰ฒ็ด ๆ€งใ‚ใ‚‹ใ„ใฏ่‰ฒ็ด ๆ€งไธ˜็–นใงใ‚ใ‚Šใ€่žๅˆๅ‚พๅ‘ใŒใฟใ‚‰ใ‚Œใ€ๅขƒ็•ŒใŒไธ่ฆๅ‰‡ใชๆ–‘็Šถ่ฝๅฑ‘ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๅ…‰ใฎๆšด้œฒใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใซใฏใ€็–ฃ่ด…็Šถใ‚ใ‚‹ใ„ใฏ่„‚ๆผๆ€ง่ง’ๅŒ–็Šถใฎ็—…ๅค‰ใจใชใ‚Šใ‚„ใ™ใๆ‚ชๆ€งๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚็šฎ็–นใฏฮฒใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚น๏ผˆHPV๏ผ‰ใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ€‚19็จฎ้กž็•ฐๅธธใฎใ‚ฟใ‚คใƒ—ใฎฮฒHPVใŒๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€้€šๅธธใ€่ค‡ๆ•ฐใฎ็จฎ้กžใฎใ‚ฆใ‚คใƒซใ‚นใŒๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ใ€‚HPV-5ใ€3ใ€10ใฎ้ ปๅบฆใŒ้ซ˜ใใ€HPV-5ใฏใ€ๆ‚ชๆ€งๅŒ–ใจ้–ข้€ฃใŒ้ซ˜ใ„ใ€‚ๆ‚ฃ่€…ใฎๆœซๆขข่ก€ๅ…็–ซ่ƒฝๆคœๆŸปใฏๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€T็ดฐ่ƒžๆ•ฐใฎๆธ›ๅฐ‘ใ€mitogenใ‚„HPVใซๅฏพใ™ใ‚‹ไฝŽๅๅฟœๆ€งใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ - 2200768 - + + 25 + EVER1ใ‚ใ‚‹ใ„ใฏEVER2ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚ใ‚‹ใ„ใฏX้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ ดๅˆใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚EVER้บไผๅญใฏใ€่†œ่ฒซ้€š่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ไบœ้‰›ใฎhomeostasisใซ้‡่ฆใชๅƒใใ‚’ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€EVER่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใฃใฆใ‚ฆใ‚คใƒซใ‚น้บไผๅญใ€็‰นใซpro-oncogeneใงใ‚ใ‚‹E6ใ‚„E7ใฎ็™บ็พใŒไบข้€ฒใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใฏ้›ฃๆฒปๆ€งใƒปๆ’ญ็จฎๆ€งใงใ‚ใ‚‹ใ€‚้€šๅธธไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็šฎ่†š็™Œใ‚’้ซ˜็Ž‡ใซๅˆไฝตใ™ใ‚‹ใ€‚็šฎ็–น็—…ๅค‰ใฏๆ‰‹่ƒŒใ‚„้กใ‹ใ‚‰ใฏใ˜ใพใ‚Šใ€ๆฌก็ฌฌใซๅ››่‚ขใ€้ฆ–ใ€่บฏๅนนใซ้€ฒๅฑ•ใ—ใฆใ„ใใ€‚่บฏๅนนใ€้ฆ–ใ€ๅ››่‚ขใซใŠใ“ใ‚‹ใ‚‚ใฎใฏใ€ๅนณๅฆใ€็–ฃ่ด…็Šถใ€ไฝŽ่‰ฒ็ด ๆ€งใ‚ใ‚‹ใ„ใฏ่‰ฒ็ด ๆ€งไธ˜็–นใงใ‚ใ‚Šใ€่žๅˆๅ‚พๅ‘ใŒใฟใ‚‰ใ‚Œใ€ๅขƒ็•ŒใŒไธ่ฆๅ‰‡ใชๆ–‘็Šถ่ฝๅฑ‘ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๅ…‰ใฎๆšด้œฒใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใซใฏใ€็–ฃ่ด…็Šถใ‚ใ‚‹ใ„ใฏ่„‚ๆผๆ€ง่ง’ๅŒ–็Šถใฎ็—…ๅค‰ใจใชใ‚Šใ‚„ใ™ใๆ‚ชๆ€งๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚็šฎ็–นใฏฮฒใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚น๏ผˆHPV๏ผ‰ใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ€‚19็จฎ้กž็•ฐๅธธใฎใ‚ฟใ‚คใƒ—ใฎฮฒHPVใŒๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€้€šๅธธใ€่ค‡ๆ•ฐใฎ็จฎ้กžใฎใ‚ฆใ‚คใƒซใ‚นใŒๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ใ€‚HPV-5ใ€3ใ€10ใฎ้ ปๅบฆใŒ้ซ˜ใใ€HPV-5ใฏใ€ๆ‚ชๆ€งๅŒ–ใจ้–ข้€ฃใŒ้ซ˜ใ„ใ€‚ๆ‚ฃ่€…ใฎๆœซๆขข่ก€ๅ…็–ซ่ƒฝๆคœๆŸปใฏๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€T็ดฐ่ƒžๆ•ฐใฎๆธ›ๅฐ‘ใ€mitogenใ‚„HPVใซๅฏพใ™ใ‚‹ไฝŽๅๅฟœๆ€งใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200768 + Epidermodysplasia verruciformis + ใ‚†ใ†ใœใ„ใ˜ใ‚‡ใ†ใฒใ‚‡ใ†ใฒใฏใคใ„ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡ + - + ็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡ - - 25 - ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚ - 2200769 - + + 25 + NANDO:2200769 + severe viral infection + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - - - - - 25 - ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚ - 2200770 - + + + ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ + + + 25 + ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚ + NANDO:2200770 + STAT2 deficiency STAT2ๆฌ ๆ็—‡ + ใˆใ™ใฆใƒใƒผใˆใƒผใฆใƒใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - + + STAT2ๆฌ ๆ็—‡ - - 25 - ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MCM4้บไผๅญ็•ฐๅธธใฏใ€ACTH่€ๆ€ง็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ๆ็—‡ใ€NK็ดฐ่ƒžๆฌ ๆใ€ๆˆ้•ท้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆŸ“่‰ฒไฝ“ๆ–ญ่ฃ‚ใŒ่ตทใ“ใ‚Šใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰ๅœฐๆ–นใฎ1้ƒจใฎ้›†ๅ›ฃใซๅคšใ„ใจใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚ - 2200771 - + + 25 + ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MCM4้บไผๅญ็•ฐๅธธใฏใ€ACTH่€ๆ€ง็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ๆ็—‡ใ€NK็ดฐ่ƒžๆฌ ๆใ€ๆˆ้•ท้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆŸ“่‰ฒไฝ“ๆ–ญ่ฃ‚ใŒ่ตทใ“ใ‚Šใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰ๅœฐๆ–นใฎ1้ƒจใฎ้›†ๅ›ฃใซๅคšใ„ใจใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚ + NANDO:2200771 + MCM4 mutation MCM4้บไผๅญ็•ฐๅธธ็—‡ + ใˆใ‚€ใ—ใƒผใˆใ‚€4ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† + - + + MCM4้บไผๅญ็•ฐๅธธ็—‡ - - 25 - ้บไผ็š„ใช่ฆๅ› ใซใ‚ˆใฃใฆๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’่ตทใ“ใ™ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’็นฐใ‚Š่ฟ”ใ—ใ‚„ใ™ใ„ใ€‚TLR3ใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้–ข้€ฃใ™ใ‚‹ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆใ€TLR3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€UNC93B1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TRAF3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใ€TRIF๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TBK1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ - 2200772 - + + 25 + ้บไผ็š„ใช่ฆๅ› ใซใ‚ˆใฃใฆๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’่ตทใ“ใ™ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’็นฐใ‚Š่ฟ”ใ—ใ‚„ใ™ใ„ใ€‚TLR3ใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้–ข้€ฃใ™ใ‚‹ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆใ€TLR3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€UNC93B1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TRAF3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใ€TRIF๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TBK1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ + NANDO:2200772 + Herpes simplex encephalitis + ใŸใ‚“ใ˜ใ‚…ใ‚“ใธใ‚‹ใบใ™ใฎใ†ใˆใ‚“ ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž - + ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž - - 25 - ๅฃ่…”ๅ†…ใ‚ซใƒณใ‚ธใƒ€็—‡ใ‚„ๅค–้™ฐ้ƒจใ‚ซใƒณใ‚ธใƒ€็—‡ใชใฉใฎๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ใฎ่‡จๅบŠๅƒใจใ€ๆทฑ้ƒจ่‡“ๅ™จใฎใ‚ซใƒณใ‚ธใƒ€็—‡ใฎไธก่€…ใŒ่ตทใ“ใ‚‹็‚นใŒ็‰นๅพด็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็ณธ็Šถ่Œ็—‡ใ‚„ไฝ“้ƒจ็™ฝ็™ฌใ‚‚่ตทใ“ใ‚Šใ‚„ใ™ใใ€็ดซ่‰ฒ็™ฝ็™ฌ่Œใ‚„็ด…่‰ฒ็™ฝ็™ฌ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ•ใ‚งใ‚ชใƒ•ใ‚ฃใƒ›็œŸ่Œ็—‡็ญ‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€ไธญๆžข็ฅž็ตŒ็ณปใฎใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“็—‡ใ‚’ใŠใ“ใ—ใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚CARD9ใฏใ€่‡ช็„ถๅ…็–ซใ‚’ๆ‹…ใ†็ดฐ่ƒžใซใŠใ„ใฆใ€Dectin-1ใ‚„Dectin-2ใ€Mincle็ญ‰ใฎC-type lectin receptorใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ๅฅฝไธญ็ƒใฏCandidaใซๅฏพใ™ใ‚‹ๆฎบ่Œ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžๅ†…ใงใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€Th17็ดฐ่ƒžใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ - 2200773 - + + 25 + ๅฃ่…”ๅ†…ใ‚ซใƒณใ‚ธใƒ€็—‡ใ‚„ๅค–้™ฐ้ƒจใ‚ซใƒณใ‚ธใƒ€็—‡ใชใฉใฎๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ใฎ่‡จๅบŠๅƒใจใ€ๆทฑ้ƒจ่‡“ๅ™จใฎใ‚ซใƒณใ‚ธใƒ€็—‡ใฎไธก่€…ใŒ่ตทใ“ใ‚‹็‚นใŒ็‰นๅพด็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็ณธ็Šถ่Œ็—‡ใ‚„ไฝ“้ƒจ็™ฝ็™ฌใ‚‚่ตทใ“ใ‚Šใ‚„ใ™ใใ€็ดซ่‰ฒ็™ฝ็™ฌ่Œใ‚„็ด…่‰ฒ็™ฝ็™ฌ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ•ใ‚งใ‚ชใƒ•ใ‚ฃใƒ›็œŸ่Œ็—‡็ญ‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€ไธญๆžข็ฅž็ตŒ็ณปใฎใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“็—‡ใ‚’ใŠใ“ใ—ใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚CARD9ใฏใ€่‡ช็„ถๅ…็–ซใ‚’ๆ‹…ใ†็ดฐ่ƒžใซใŠใ„ใฆใ€Dectin-1ใ‚„Dectin-2ใ€Mincle็ญ‰ใฎC-type lectin receptorใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ๅฅฝไธญ็ƒใฏCandidaใซๅฏพใ™ใ‚‹ๆฎบ่Œ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžๅ†…ใงใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€Th17็ดฐ่ƒžใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200773 + CARD9 deficiency CARD9ๆฌ ๆ็—‡ - + ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ9ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - + CARD9ๆฌ ๆ็—‡ - - 25 - ๆตทๅค–ใงๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžใซๅฏพใ™ใ‚‹่‡ช็„ถๅ…็–ซใจใ—ใฆ่ก€ๆธ…ไธญใฎapolipoprotein L-1๏ผˆAPOL1๏ผ‰ใŒ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚้€šๅธธใƒ’ใƒˆใซใฏๆ„ŸๆŸ“ใ—ใชใ„T. evansiใฎๆ„ŸๆŸ“็—‡ใ‚’่ตทใ“ใ—ใŸๆ‚ฃ่€…ใงใ€APOL1ใŒๆฌ ๆใ—ใฆใ„ใŸไบ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200774 - + + 25 + ๆตทๅค–ใงๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžใซๅฏพใ™ใ‚‹่‡ช็„ถๅ…็–ซใจใ—ใฆ่ก€ๆธ…ไธญใฎapolipoprotein L-1๏ผˆAPOL1๏ผ‰ใŒ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚้€šๅธธใƒ’ใƒˆใซใฏๆ„ŸๆŸ“ใ—ใชใ„T. evansiใฎๆ„ŸๆŸ“็—‡ใ‚’่ตทใ“ใ—ใŸๆ‚ฃ่€…ใงใ€APOL1ใŒๆฌ ๆใ—ใฆใ„ใŸไบ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200774 + Trypanosomiasis + ใจใ‚Šใฑใฎใใƒผใพใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡ - + ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡ - - 25 - ๅฟƒ็–พๆ‚ฃใชใฉใ€ไป–ใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใชใ„ใ€ๅ…ˆๅคฉ็š„ใช็„ก่„พ็—‡ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆRPSAใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฒฌไปป้บไผๅญใŒใพใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅคšใ„ใ€‚่Žข่†œๅคš็ณ–ไฝ“ใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่Œใ€็‰นใซ่‚บ็‚Ž็ƒ่Œใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถ่Œ็ญ‰ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€็‰นใซๆ•—่ก€็—‡ใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚ๆŠ—็”Ÿๅ‰คใฎไบˆ้˜ฒๅ†…ๆœใ€่‚บ็‚Ž็ƒ่Œใƒฏใ‚ฏใƒใƒณใชใฉใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใฎไบˆ้˜ฒใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ - 2200775 - - Isolatedย congenital asplenia + + 25 + ๅฟƒ็–พๆ‚ฃใชใฉใ€ไป–ใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใชใ„ใ€ๅ…ˆๅคฉ็š„ใช็„ก่„พ็—‡ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆRPSAใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฒฌไปป้บไผๅญใŒใพใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅคšใ„ใ€‚่Žข่†œๅคš็ณ–ไฝ“ใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่Œใ€็‰นใซ่‚บ็‚Ž็ƒ่Œใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถ่Œ็ญ‰ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€็‰นใซๆ•—่ก€็—‡ใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚ๆŠ—็”Ÿๅ‰คใฎไบˆ้˜ฒๅ†…ๆœใ€่‚บ็‚Ž็ƒ่Œใƒฏใ‚ฏใƒใƒณใชใฉใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใฎไบˆ้˜ฒใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200775 + + Isolated congenital asplenia + ใ“ใ‚Šใคใ›ใ„ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใฒใ—ใ‚‡ใ† ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡ + - + + ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡ - - 27 - ่ฃœไฝ“ใฎๅ„ๆˆๅˆ†ใฎใ„ใšใ‚Œใ‹ใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๆฌ ๆใ™ใ‚‹่ฃœไฝ“ใฎ็จฎ้กžใซใ‚ˆใฃใฆใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซใ€้บไผๆ€ง่ก€็ฎกๆตฎ่…ซใ€็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใŠใ‚ˆใณ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏไป–ใฎใ‚ซใƒ†ใ‚ดใƒชใƒผใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใฎใงใ€ใ“ใ“ใงใฏๅ‰ฒๆ„›ใ™ใ‚‹ใ€‚ - 2200776 - - inherited deficiency of complement system + + 27 + ่ฃœไฝ“ใฎๅ„ๆˆๅˆ†ใฎใ„ใšใ‚Œใ‹ใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๆฌ ๆใ™ใ‚‹่ฃœไฝ“ใฎ็จฎ้กžใซใ‚ˆใฃใฆใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซใ€้บไผๆ€ง่ก€็ฎกๆตฎ่…ซใ€็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใŠใ‚ˆใณ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏไป–ใฎใ‚ซใƒ†ใ‚ดใƒชใƒผใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใฎใงใ€ใ“ใ“ใงใฏๅ‰ฒๆ„›ใ™ใ‚‹ใ€‚ + NANDO:2200776 + + Inherited deficiency of complement system + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ + - + + ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ - - 27 - 2200777 - + + 27 + NANDO:2200777 + C1q deficiency C1qย ๆฌ ๆ็—‡ + ใ—ใƒผ1ใใ‚…ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C1qย ๆฌ ๆ็—‡ - - 27 - 2200778 - + + 27 + NANDO:2200778 + C1r deficiency C1rย ๆฌ ๆ็—‡ + ใ—ใƒผ1ใ‚ใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + + C1rย ๆฌ ๆ็—‡ - - 27 - 2200779 - + + 27 + NANDO:2200779 + C1s deficiency C1sย ๆฌ ๆ็—‡ + ใ—ใƒผ1ใˆใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C1sย ๆฌ ๆ็—‡ - - 27 - 2200780 - + + 27 + NANDO:2200780 + C4 deficiency C4ย ๆฌ ๆ็—‡ + ใ—ใƒผ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C4ย ๆฌ ๆ็—‡ - - 27 - 2200781 - + + 27 + NANDO:2200781 + C2 deficiency C2ย ๆฌ ๆ็—‡ + ใ—ใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C2ย ๆฌ ๆ็—‡ - - 27 - 2200782 - + + 27 + NANDO:2200782 + C3 deficiency C3ย ๆฌ ๆ็—‡ + ใ—ใƒผ3ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C3ย ๆฌ ๆ็—‡ - - 27 - 2200783 - + + 27 + NANDO:2200783 + C5 deficiency C5ย ๆฌ ๆ็—‡ + ใ—ใƒผ5ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C5ย ๆฌ ๆ็—‡ - - 27 - 2200784 - + + 27 + NANDO:2200784 + C6 deficiency C6ย ๆฌ ๆ็—‡ + ใ—ใƒผ6ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C6ย ๆฌ ๆ็—‡ - - 27 - 2200785 - + + 27 + NANDO:2200785 + C7 deficiency C7ย ๆฌ ๆ็—‡ + ใ—ใƒผ7ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C7ย ๆฌ ๆ็—‡ - - 27 - 2200786 - + + 27 + NANDO:2200786 + C8 deficiency C8ย ๆฌ ๆ็—‡ + ใ—ใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C8ย ๆฌ ๆ็—‡ - - 27 - 2200787 - + + 27 + NANDO:2200787 + C9 deficiency C9ย ๆฌ ๆ็—‡ + ใ—ใƒผ9ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + C9ย ๆฌ ๆ็—‡ - - 27 - 2200788 - + + 27 + NANDO:2200788 + Factor D deficiency Factor Dย ๆฌ ๆ็—‡ - + ใตใใใŸใƒผใงใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + Dๅ› ๅญๆฌ ๆ็—‡ - Factor Dย ๆฌ ๆ็—‡ - - 27 - 2200789 - + + 27 + NANDO:2200789 + Properdin deficiency Properdinย ๆฌ ๆ็—‡ + ใทใ‚ใฑใƒผใ˜ใ‚“ ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + Properdinย ๆฌ ๆ็—‡ - - 27 - 2200790 - + + 27 + NANDO:2200790 + Factor I deficiency Factor Iย ๆฌ ๆ็—‡ - + ใตใใใŸใƒผใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - + Factor Iย ๆฌ ๆ็—‡ - - 27 - 2200791 - + + 27 + NANDO:2200791 + Factor H deficiency Factor Hย ๆฌ ๆ็—‡ + ใตใใใŸใƒผใˆใ„ใกใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + Hๅ› ๅญๆฌ ๆ็—‡ Factor Hย ๆฌ ๆ็—‡ - - 27 - 2200792 - + + 27 + NANDO:2200792 + 3MCย ็—‡ๅ€™็พค + 3ใˆใ‚€ใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ Malpuech-Michels-Mingarelli-Carnevale syndrome - - + + 3MC syndrome 3MCย ็—‡ๅ€™็พค - - 27 - 2200793 - + + 27 + NANDO:2200793 + MASP2 deficiency MASP2ย ๆฌ ๆ็—‡ - + ใˆใ‚€ใˆใƒผใˆใ™ใดใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - - + MASP2ย ๆฌ ๆ็—‡ - - 27 - 2200794 - - Ficolin 3ย Deficiency + + 27 + NANDO:2200794 + + Ficolin 3 Deficiency Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡ - - + ใตใƒใ“ใ‚Šใ‚“3ใ‹ใ‚“ใ‚Œใ‚“ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† + + Ficolin3ๆฌ ๆ็—‡ - Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡ - - 26 - ๅฑ€ๆ‰€ๆ€งใง็ช็™บๆ€งใฎ่ก€็ฎกๆ€งๆตฎ่…ซใงใ‚ใ‚Šใ€้บไผๆ€งใซใŠใ“ใ‚‹ใ€‚ - 2200795 - - hereditary angioedema + + 26 + ๅฑ€ๆ‰€ๆ€งใง็ช็™บๆ€งใฎ่ก€็ฎกๆ€งๆตฎ่…ซใงใ‚ใ‚Šใ€้บไผๆ€งใซใŠใ“ใ‚‹ใ€‚ + NANDO:2200795 + + Hereditary angioedema + ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ‹ใ‚“ใ›ใ„ใตใ—ใ‚… ้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ - + - + C1 inhibitor deficiency C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡ ้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ - - 28 - ไปฅไธ‹ใฎๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ไธปใช่‡จๅบŠๅƒใ‚’็คบใ™ใ€‚Factor B๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคFactor D๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Properidin๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Factor I๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H-related protein๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคThrombomodulin๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคMASP1๏ผš 3MC๏ผˆCarnevale, Mingarelli, Malpuech, Michels๏ผ‰็—‡ๅ€™็พค๏ผˆไธก็œผ้š”้›ขใ€็œผ็ƒˆ็‹ญๅฐใ€็ƒ็Šถ็œ‰ใ€็œผ็•ฐๅฝขใ€้ ญ่“‹้ชจ็™’็€ใ€ๅฃ่“‹่ฃ‚ใ€ๅ‰ๆˆฟๆฌ ๆ๏ผ‰ๆ˜“ๆ„ŸๆŸ“ๆ€งMASP2๏ผš ๅŒ–่†ฟ่Œๆ„ŸๆŸ“็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€็‚Ž็—‡ๆ€ง่‚บ็–พๆ‚ฃCOLEC11๏ผš 3MC็—‡ๅ€™็พคCR2๏ผˆCD21๏ผ‰ๆฌ ๆ็—‡๏ผšไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CR3ๆฌ ๆ็—‡๏ผš ็™ฝ่ก€็ƒ็ฒ˜็€ไธๅ…จ็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CD46ๆฌ ๆ็—‡๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๆ„ŸๆŸ“็—‡ใ€ๅญ็™‡ๅ‰็—‡CD59ๆฌ ๆ็—‡๏ผš ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€polyneuropathyFicolin3ๆฌ ๆ็—‡๏ผšๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่†ฟ็˜ - 2200796 - + + 28 + ไปฅไธ‹ใฎๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ไธปใช่‡จๅบŠๅƒใ‚’็คบใ™ใ€‚Factor B๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคFactor D๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Properidin๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Factor I๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H-related protein๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคThrombomodulin๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคMASP1๏ผš 3MC๏ผˆCarnevale, Mingarelli, Malpuech, Michels๏ผ‰็—‡ๅ€™็พค๏ผˆไธก็œผ้š”้›ขใ€็œผ็ƒˆ็‹ญๅฐใ€็ƒ็Šถ็œ‰ใ€็œผ็•ฐๅฝขใ€้ ญ่“‹้ชจ็™’็€ใ€ๅฃ่“‹่ฃ‚ใ€ๅ‰ๆˆฟๆฌ ๆ๏ผ‰ๆ˜“ๆ„ŸๆŸ“ๆ€งMASP2๏ผš ๅŒ–่†ฟ่Œๆ„ŸๆŸ“็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€็‚Ž็—‡ๆ€ง่‚บ็–พๆ‚ฃCOLEC11๏ผš 3MC็—‡ๅ€™็พคCR2๏ผˆCD21๏ผ‰ๆฌ ๆ็—‡๏ผšไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CR3ๆฌ ๆ็—‡๏ผš ็™ฝ่ก€็ƒ็ฒ˜็€ไธๅ…จ็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CD46ๆฌ ๆ็—‡๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๆ„ŸๆŸ“็—‡ใ€ๅญ็™‡ๅ‰็—‡CD59ๆฌ ๆ็—‡๏ผš ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€polyneuropathyFicolin3ๆฌ ๆ็—‡๏ผšๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่†ฟ็˜ + NANDO:2200796 + + 49ใŠใ‚ˆใณ50ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† 49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ Other inherited deficiency of complement system - + 49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡ - - 28 - 2200797 - + + 28 + NANDO:2200797 + Bๅ› ๅญๆฌ ๆ็—‡ Factor B deficiency + ใณใƒผใ„ใ‚“ใ—ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + Factorย Bๆฌ ๆ็—‡ + Bๅ› ๅญๆฌ ๆ็—‡ - - 28 - 2200798 - + + 28 + NANDO:2200798 + Factor I deficiency - Factorย Iๆฌ ๆ็—‡ - + Factor Iย ๆฌ ๆ็—‡ + ใตใใใŸใƒผใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - - - Factorย Iๆฌ ๆ็—‡ - - - 28 - 2200799 - + + Factor Iย ๆฌ ๆ็—‡ + + + 28 + NANDO:2200799 + Factor H-related proteinๆฌ ๆ็—‡ - complementย factor H related protein 1ย deficiency + complement factor H related protein 1 deficiency + ใตใใใŸใƒผใˆใ„ใกใ‚Šใ‚Œใ„ใฆใƒใฃใฉใทใ‚ใฆใ„ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + Factor H-related proteinๆฌ ๆ็—‡ - - 28 - 2200800 - + + 28 + NANDO:2200800 + Thrombomodulin deficiency Thrombomodulinๆฌ ๆ็—‡ + ใจใ‚ใ‚“ใผใ‚‚ใ˜ใ‚…ใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + - + + + Thrombomodulinๆฌ ๆ็—‡ - - 28 - 2200801 - + + 28 + NANDO:2200801 + CD21 deficiency CR2ๆฌ ๆ็—‡ + ใ—ใƒผใ‚ใƒผใ‚‹2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + CD21ๆฌ ๆ็—‡ + CR2ๆฌ ๆ็—‡ - - 28 - 2200802 - + + 28 + NANDO:2200802 + CR3 deficiency CR3ๆฌ ๆ็—‡ + ใ—ใƒผใ‚ใƒผใ‚‹3ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + CR3ๆฌ ๆ็—‡ - - 28 - 2200803 - + + 28 + NANDO:2200803 + CD46 deficiency CD46ๆฌ ๆ็—‡ + ใ—ใƒผใงใƒใƒผ46ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + Membrane cofactor protein ๆฌ ๆ็—‡ + CD46ๆฌ ๆ็—‡ - - 28 - 2200804 - + + 28 + NANDO:2200804 + CD59ๆฌ ๆ็—‡ Primary CD59 deficiency + ใ—ใƒผใงใƒใƒผ59ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + Membrane attack complex inhibitorๆฌ ๆ็—‡ CD59ๆฌ ๆ็—‡ - - 18 - 2200805 - - hyper eosinophilic syndrome + + 18 + NANDO:2200805 + + Hyper eosinophilic syndrome + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ† ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡ - + + ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡ - - 18 - ๆœซๆขข่ก€ไธญใฎๆˆ็†Ÿๅฅฝ้…ธ็ƒใŒ1500ๅ€‹/mm3ไปฅไธŠใซๅข—ๅŠ ใ—ใ€็ต„็น”ใซๆตธๆฝคใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚ - 2200806 - - hypereosinophilic syndrome + + 18 + ๆœซๆขข่ก€ไธญใฎๆˆ็†Ÿๅฅฝ้…ธ็ƒใŒ1500ๅ€‹/mm3ไปฅไธŠใซๅข—ๅŠ ใ—ใ€็ต„็น”ใซๆตธๆฝคใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚ + NANDO:2200806 + + Hypereosinophilic syndrome + ใจใใฏใคใ›ใ„ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ† ็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡ + - + ็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡ - - 18 - ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ๏ผˆEosinophilic gastrointestinal disorders, EGIDs๏ผ‰ใฏๅฅฝ้…ธ็ƒใฎๆถˆๅŒ–็ฎกๅฑ€ๆ‰€ใธใฎ็•ฐๅธธใช้›†็ฉใ‹ใ‚‰ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡ใซใ‚ˆใ‚Š็ต„็น”ใŒๅ‚ทๅฎณใ•ใ‚Œ๏ผŒๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้ƒจไฝใซใ‚ˆใ‚Šไธปใจใ—ใฆๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEosinophilic Esophagitis, EoE๏ผ‰๏ผŒ่ƒƒ่…ธ็‚Ž ๏ผˆEosinophilic Gastroenteritis, EGE๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใพใŸEoEใ‚’็–‘ใ‚ใ‚ŒใŸใŒใƒ—ใƒญใƒˆใƒณใƒใƒณใƒ—้˜ปๅฎณ่–ฌ๏ผˆPPI๏ผ‰ใซ่‰ฏๅฅฝใชๅๅฟœใ‚’็คบใ—ใŸๅ ดๅˆใฏproton-pump inhibitor (PPI)-responsive esophageal eosinophilia๏ผˆPPI-REE๏ผ‰ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ - 2200807 - + + 18 + ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ๏ผˆEosinophilic gastrointestinal disorders, EGIDs๏ผ‰ใฏๅฅฝ้…ธ็ƒใฎๆถˆๅŒ–็ฎกๅฑ€ๆ‰€ใธใฎ็•ฐๅธธใช้›†็ฉใ‹ใ‚‰ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡ใซใ‚ˆใ‚Š็ต„็น”ใŒๅ‚ทๅฎณใ•ใ‚Œ๏ผŒๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้ƒจไฝใซใ‚ˆใ‚Šไธปใจใ—ใฆๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEosinophilic Esophagitis, EoE๏ผ‰๏ผŒ่ƒƒ่…ธ็‚Ž ๏ผˆEosinophilic Gastroenteritis, EGE๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใพใŸEoEใ‚’็–‘ใ‚ใ‚ŒใŸใŒใƒ—ใƒญใƒˆใƒณใƒใƒณใƒ—้˜ปๅฎณ่–ฌ๏ผˆPPI๏ผ‰ใซ่‰ฏๅฅฝใชๅๅฟœใ‚’็คบใ—ใŸๅ ดๅˆใฏproton-pump inhibitor (PPI)-responsive esophageal eosinophilia๏ผˆPPI-REE๏ผ‰ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200807 + Eosinophilic gastrointestinal disorders + ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใ—ใฃใ‹ใ‚“ ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ - + - + + EGIDs ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ - - 40 - ้ทๅปถใ‚ใ‚‹ใ„ใฏๅ†็™บใ™ใ‚‹ไผๆŸ“ๆ€งๅ˜ๆ ธ็—‡(infectious mononucleosis;IM)ๆง˜็—‡็Šถใ‚’็คบใ—ใ€ๆœซๆขข่ก€ใŠใ‚ˆใณ็—…ๅค‰็ต„็น”ใซ้ซ˜ใƒฌใƒ™ใƒซใฎEBV DNAใŒๆคœๅ‡บใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚EBVๆ„ŸๆŸ“Tใ‚ใ‚‹ใ„ใฏNK็ดฐ่ƒžใŒใƒขใƒŽใ‚ฏใƒญใƒผใƒŠใƒซใ‚ใ‚‹ใ„ใฏใ‚ชใƒชใ‚ดใ‚ฏใƒญใƒผใƒŠใƒซใซๅข—ๆฎ–ใ—้ซ˜ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็—‡็Šถใจ้šœๅฎณ่‡“ๅ™จใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ - 2200808 - + + 40 + ้ทๅปถใ‚ใ‚‹ใ„ใฏๅ†็™บใ™ใ‚‹ไผๆŸ“ๆ€งๅ˜ๆ ธ็—‡(infectious mononucleosis;IM)ๆง˜็—‡็Šถใ‚’็คบใ—ใ€ๆœซๆขข่ก€ใŠใ‚ˆใณ็—…ๅค‰็ต„็น”ใซ้ซ˜ใƒฌใƒ™ใƒซใฎEBV DNAใŒๆคœๅ‡บใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚EBVๆ„ŸๆŸ“Tใ‚ใ‚‹ใ„ใฏNK็ดฐ่ƒžใŒใƒขใƒŽใ‚ฏใƒญใƒผใƒŠใƒซใ‚ใ‚‹ใ„ใฏใ‚ชใƒชใ‚ดใ‚ฏใƒญใƒผใƒŠใƒซใซๅข—ๆฎ–ใ—้ซ˜ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็—‡็Šถใจ้šœๅฎณ่‡“ๅ™จใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ + NANDO:2200808 + chronic active EB virus infection + ใพใ‚“ใ›ใ„ใ‹ใคใฉใ†ใ›ใ„ใ„ใƒผใณใƒผใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - + CAEBV ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - - 19 - ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค๏ผˆAIDS๏ผ‰ใฏใ€ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ€ๅŽš็”ŸๅŠดๅƒ็œใฏใ€ใ€Œใƒฌใƒˆใƒญใ‚ฆใ‚คใƒซใ‚นใฎไธ€็จฎใงใ‚ใ‚‹ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น๏ผˆhuman immunodeficiency virus๏ผ›HIV๏ผ‰ใฎๆ„ŸๆŸ“ใซใ‚ˆใฃใฆๅ…็–ซไธๅ…จใŒ็”Ÿใ˜ใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒๅˆไฝตใ—ใŸ็Šถๆ…‹ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚HIVใซๆ„ŸๆŸ“ใ—ใŸๅพŒใ€CD4้™ฝๆ€งใƒชใƒณใƒ‘็ƒๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€็„ก็—‡ๅ€™ๆ€งใฎๆ™‚ๆœŸ๏ผˆ็„กๆฒป็™‚ใง็ด„10ๅนด๏ผ‰ใ‚’็ตŒใฆ้ซ˜ๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใซ้™ฅใ‚Šใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒ็”Ÿใ˜ใฆใใ‚‹ใ€‚ - 2200809 - - acquired immune deficiency syndrome + + 19 + ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค๏ผˆAIDS๏ผ‰ใฏใ€ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ€ๅŽš็”ŸๅŠดๅƒ็œใฏใ€ใ€Œใƒฌใƒˆใƒญใ‚ฆใ‚คใƒซใ‚นใฎไธ€็จฎใงใ‚ใ‚‹ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น๏ผˆhuman immunodeficiency virus๏ผ›HIV๏ผ‰ใฎๆ„ŸๆŸ“ใซใ‚ˆใฃใฆๅ…็–ซไธๅ…จใŒ็”Ÿใ˜ใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒๅˆไฝตใ—ใŸ็Šถๆ…‹ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚HIVใซๆ„ŸๆŸ“ใ—ใŸๅพŒใ€CD4้™ฝๆ€งใƒชใƒณใƒ‘็ƒๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€็„ก็—‡ๅ€™ๆ€งใฎๆ™‚ๆœŸ๏ผˆ็„กๆฒป็™‚ใง็ด„10ๅนด๏ผ‰ใ‚’็ตŒใฆ้ซ˜ๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใซ้™ฅใ‚Šใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒ็”Ÿใ˜ใฆใใ‚‹ใ€‚ + NANDO:2200809 + + Acquired immune deficiency syndrome + ใ“ใ†ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค - + + AIDS ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค - - 19 - 2200810 - + + 19 + NANDO:2200810 + HIV infection + ใฒใจใ‚ใ‚“ใˆใใตใœใ‚“ใ†ใ„ใ‚‹ใ™ ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น + - + ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น - - 20 - ๅพŒๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š่ตทใใ‚‹ๅ…็–ซไธๅ…จ็—‡ใจใ€ๅพŒๅคฉ็š„ใซ็”ฃ็”Ÿใ•ใ‚Œใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใฏใ€ไฝ“็ดฐ่ƒžใซใŠใ‘ใ‚‹้บไผๅญๅค‰็•ฐใฎ่จผๆ˜Žใจใ€่‡ชๅทฑๆŠ—ไฝ“ใฎๆธฌๅฎšใซใ‚ˆใ‚‹ใ€‚ใ“ใ‚Œใพใงใซไปฅไธ‹ใฎ็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200811 - + + 20 + ๅพŒๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š่ตทใใ‚‹ๅ…็–ซไธๅ…จ็—‡ใจใ€ๅพŒๅคฉ็š„ใซ็”ฃ็”Ÿใ•ใ‚Œใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใฏใ€ไฝ“็ดฐ่ƒžใซใŠใ‘ใ‚‹้บไผๅญๅค‰็•ฐใฎ่จผๆ˜Žใจใ€่‡ชๅทฑๆŠ—ไฝ“ใฎๆธฌๅฎšใซใ‚ˆใ‚‹ใ€‚ใ“ใ‚Œใพใงใซไปฅไธ‹ใฎ็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200811 + Phenocopies of primary immunodeficiency + ใ“ใ†ใฆใ‚“ใฆใใชใ‚ใ‚“ใˆใใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใซใ‚ˆใ‚‹ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ† ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡ - + ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡ - - 39 - ๆ…ขๆ€งGVHDใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใฎๆ‚ฃ่€…ใซ็™บ็—‡ใ—ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใซ้กžไผผใ—ใŸๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ๅ†็™บใƒป็”Ÿๅญ˜็Ž‡ใจ็”Ÿๆดปใฎ่ณชใซๅคงใใ้–ข้€ฃใ™ใ‚‹ๆ™ฉๆœŸๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ๆ…ขๆ€งGVHDใซ็‰นๅพด็š„ใช่‡จๅบŠๆ‰€่ฆ‹ใซๅŸบใฅใ„ใŸNIH่จบๆ–ญๅŸบๆบ–ใ‚„้‡็—‡ๅบฆๅˆคๅฎšๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œใ€ๆ—ฅๆœฌ้€ ่ก€็งปๆคๅญฆไผšใงใฏ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ(GVHD)ใŒไฝœๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200812 - + + 39 + ๆ…ขๆ€งGVHDใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใฎๆ‚ฃ่€…ใซ็™บ็—‡ใ—ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใซ้กžไผผใ—ใŸๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ๅ†็™บใƒป็”Ÿๅญ˜็Ž‡ใจ็”Ÿๆดปใฎ่ณชใซๅคงใใ้–ข้€ฃใ™ใ‚‹ๆ™ฉๆœŸๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ๆ…ขๆ€งGVHDใซ็‰นๅพด็š„ใช่‡จๅบŠๆ‰€่ฆ‹ใซๅŸบใฅใ„ใŸNIH่จบๆ–ญๅŸบๆบ–ใ‚„้‡็—‡ๅบฆๅˆคๅฎšๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œใ€ๆ—ฅๆœฌ้€ ่ก€็งปๆคๅญฆไผšใงใฏ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ(GVHD)ใŒไฝœๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200812 + chronic graft-versus-host disease + ใพใ‚“ใ›ใ„ใ„ใ—ใ‚‡ใใธใ‚“ใŸใ„ใ—ใ‚…ใใ—ใ‚…ใณใ‚‡ใ† ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—… - + chronic GVHD ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—… - - 38 - ็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใซใ‚ˆใฃใฆ้ ญ่“‹้ชจใซๆฌ ๆใŒ็”Ÿใ˜ใŸใ‚‚ใฎใ‚’ไบŒๅˆ†้ ญ่“‹ใจใ„ใ„ใ€ใ“ใฎ้ ญ่“‹ๆฌ ๆ้ƒจใ‹ใ‚‰้ ญ่“‹ๅ†…ๅฎนใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ—ๅšข่ƒžใ‚’ๅฝขๆˆใ—ใŸใ‚‚ใฎใ‚’่„ณ็˜คใจๅ‘ผใถใ€‚่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ซ„่†œ่„ณ็˜ค๏ผˆmeningoencephalocle๏ผ‰ใ€่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใš้ซ„่†œใ‚„้ซ„ๆถฒใฎใฟใงใ‚ใ‚Œใฐ้ซ„่†œ็˜ค๏ผˆcranial meningocele๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็ต„็น”ๅญฆ็š„ใชๆคœ็ดขใงใฏๅพŒ่€…ใงใ‚‚็˜คๅ†…ใซใฏ่„ณ็ต„็น”ใ‚’่ชใ‚ใ‚‹ใŸใ‚ใ€็ต„็น”ๅญฆ็š„ใซใฏๅŽณๅฏ†ใซ้‘‘ๅˆฅใงใใชใ„ใ€‚้ ญ่“‹ใฎๆฌ ๆใฏๆญฃไธญ้ƒจใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚็ด„90%ใฏ้ ญ่“‹ๅ††่“‹้ƒจใ€ๆฎ‹ใ‚Š็ด„10 %ใฏ้ ญ่“‹ๅบ•้ƒจใซ็™บ็”Ÿใ—ใ€ๅ…จไฝ“ใฎ2/3ใฏๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ—ใ€ๅ††่“‹้ƒจใ‚„้ผป่…”ๅ‰้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใฏๅค–่กจไธŠใง็˜คใ‚’่ชใ‚ใ‚„ใ™ใ„ใŒใ€็ฏฉ้ชจๆดžใ€่ถๅฝข้ชจๆดž้ƒจใชใฉ้ผป่…”ใ‚„ๅ‰ฏ้ผป่…”ๅ†…ใซ็™บ็”Ÿใ™ใ‚‹ใ‚‚ใฎใฏๅค–่กจไธŠใซใฏ็˜คใ‚’่ชใ‚ใชใ„ใ€‚ใพใ‚ŒใซๅพŒ้ ญใƒป้ šๆคŽ็งป่กŒ้ƒจใซ็™บ็”Ÿใ—้ šๆคŽๆคŽๅผ“ๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บ๏ผˆๅพŒ้ ญ้ƒจใจ่ƒŒ้ƒจใŒ็™’ๅˆใ—ใฆ้ š้ƒจใŒ่ƒŒๅดใซ้Žไผธๅฑ•ใ™ใ‚‹๏ผ‰ใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝข๏ผˆ่„ณๅนนใ‚„ๅฐ่„ณใฎ่„ฑๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใซใฏใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆ๏ผˆDandy-Walker็—‡ๅ€™็พค๏ผ‰ใ‚„ไป–ใฎ่„ณๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ‚„ใ™ใใ€่„ณ็ต„็น”ใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ™ใ‚‹ใŸใ‚ๅฐ้ ญ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€็ด„30%ใฎไพ‹ใซๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่„ณใฎๅฝขๆˆ็•ฐๅธธใ€ๅคงใใช่„ณ็ต„็น”ใฎ่„ฑๅ‡บใ€ๆฐด้ ญ็—‡ใชใฉใฏ็™บ้”ใ‚„็Ÿฅ่ƒฝ้ขใงใฎไบˆๅพŒไธ่‰ฏๅ› ๅญใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅบ•้ƒจ่„ณ็˜คใงใฏใ€้–‰ๅกžๆ€งใฎๅ‘ผๅธ้šœๅฎณใ€้ซ„ๆถฒๆผใซใ‚ˆใ‚‹ๅๅพฉๆ€งใฎ้ซ„่†œ็‚Žใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็˜คใŒ็ ดใ‚Œใฆ็ดฐ่Œๆ„ŸๆŸ“ใ‚’ใใŸใ™ใŸใ‚ๅค–็ง‘็š„ใซ็˜คใ‚’ไฟฎๅพฉใ—ใ€ๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚Œใฐ้ซ„ๆถฒใ‚ทใƒฃใƒณใƒˆใ‚’ๆ–ฝ่กŒใ—ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚Œใฐ่–ฌ็‰ฉๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝขใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏๅ›ฝใ€ๅœฐๅŸŸใซใ‚ˆใฃใฆๅคงใใ็•ฐใชใ‚Šใ€ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏ้ซ˜ใใชใใ€1๏ฝž2/10000ใจ่„Š้ซ„้ซ„่†œ็˜คใฎ1/5๏ฝž1/10ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไพ‹ใฏๅฅณๅ…ใซๅคšใ„ใ€‚้ซ„่†œ่„ณ็˜คใฎ็™บ็”ŸๆฉŸๅบใฏๅพ“ๆฅ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใจ่€ƒใˆใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ๅพŒใซ่„ณ็ต„็น”ใฎๅ‘จๅ›ฒใฎ้–“่‘‰็ต„็น”ใฎ็™บ็”Ÿ็•ฐๅธธใŒๅŽŸๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ๅพ“ๆฅใฎ่€ƒใˆใซๅพ“ใ„็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ็–พๆ‚ฃใฎ็ฏ„็–‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 2200813 - + + 38 + ็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใซใ‚ˆใฃใฆ้ ญ่“‹้ชจใซๆฌ ๆใŒ็”Ÿใ˜ใŸใ‚‚ใฎใ‚’ไบŒๅˆ†้ ญ่“‹ใจใ„ใ„ใ€ใ“ใฎ้ ญ่“‹ๆฌ ๆ้ƒจใ‹ใ‚‰้ ญ่“‹ๅ†…ๅฎนใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ—ๅšข่ƒžใ‚’ๅฝขๆˆใ—ใŸใ‚‚ใฎใ‚’่„ณ็˜คใจๅ‘ผใถใ€‚่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ซ„่†œ่„ณ็˜ค๏ผˆmeningoencephalocle๏ผ‰ใ€่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใš้ซ„่†œใ‚„้ซ„ๆถฒใฎใฟใงใ‚ใ‚Œใฐ้ซ„่†œ็˜ค๏ผˆcranial meningocele๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็ต„็น”ๅญฆ็š„ใชๆคœ็ดขใงใฏๅพŒ่€…ใงใ‚‚็˜คๅ†…ใซใฏ่„ณ็ต„็น”ใ‚’่ชใ‚ใ‚‹ใŸใ‚ใ€็ต„็น”ๅญฆ็š„ใซใฏๅŽณๅฏ†ใซ้‘‘ๅˆฅใงใใชใ„ใ€‚้ ญ่“‹ใฎๆฌ ๆใฏๆญฃไธญ้ƒจใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚็ด„90%ใฏ้ ญ่“‹ๅ††่“‹้ƒจใ€ๆฎ‹ใ‚Š็ด„10 %ใฏ้ ญ่“‹ๅบ•้ƒจใซ็™บ็”Ÿใ—ใ€ๅ…จไฝ“ใฎ2/3ใฏๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ—ใ€ๅ††่“‹้ƒจใ‚„้ผป่…”ๅ‰้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใฏๅค–่กจไธŠใง็˜คใ‚’่ชใ‚ใ‚„ใ™ใ„ใŒใ€็ฏฉ้ชจๆดžใ€่ถๅฝข้ชจๆดž้ƒจใชใฉ้ผป่…”ใ‚„ๅ‰ฏ้ผป่…”ๅ†…ใซ็™บ็”Ÿใ™ใ‚‹ใ‚‚ใฎใฏๅค–่กจไธŠใซใฏ็˜คใ‚’่ชใ‚ใชใ„ใ€‚ใพใ‚ŒใซๅพŒ้ ญใƒป้ šๆคŽ็งป่กŒ้ƒจใซ็™บ็”Ÿใ—้ šๆคŽๆคŽๅผ“ๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บ๏ผˆๅพŒ้ ญ้ƒจใจ่ƒŒ้ƒจใŒ็™’ๅˆใ—ใฆ้ š้ƒจใŒ่ƒŒๅดใซ้Žไผธๅฑ•ใ™ใ‚‹๏ผ‰ใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝข๏ผˆ่„ณๅนนใ‚„ๅฐ่„ณใฎ่„ฑๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใซใฏใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆ๏ผˆDandy-Walker็—‡ๅ€™็พค๏ผ‰ใ‚„ไป–ใฎ่„ณๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ‚„ใ™ใใ€่„ณ็ต„็น”ใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ™ใ‚‹ใŸใ‚ๅฐ้ ญ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€็ด„30%ใฎไพ‹ใซๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่„ณใฎๅฝขๆˆ็•ฐๅธธใ€ๅคงใใช่„ณ็ต„็น”ใฎ่„ฑๅ‡บใ€ๆฐด้ ญ็—‡ใชใฉใฏ็™บ้”ใ‚„็Ÿฅ่ƒฝ้ขใงใฎไบˆๅพŒไธ่‰ฏๅ› ๅญใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅบ•้ƒจ่„ณ็˜คใงใฏใ€้–‰ๅกžๆ€งใฎๅ‘ผๅธ้šœๅฎณใ€้ซ„ๆถฒๆผใซใ‚ˆใ‚‹ๅๅพฉๆ€งใฎ้ซ„่†œ็‚Žใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็˜คใŒ็ ดใ‚Œใฆ็ดฐ่Œๆ„ŸๆŸ“ใ‚’ใใŸใ™ใŸใ‚ๅค–็ง‘็š„ใซ็˜คใ‚’ไฟฎๅพฉใ—ใ€ๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚Œใฐ้ซ„ๆถฒใ‚ทใƒฃใƒณใƒˆใ‚’ๆ–ฝ่กŒใ—ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚Œใฐ่–ฌ็‰ฉๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝขใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏๅ›ฝใ€ๅœฐๅŸŸใซใ‚ˆใฃใฆๅคงใใ็•ฐใชใ‚Šใ€ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏ้ซ˜ใใชใใ€1๏ฝž2/10000ใจ่„Š้ซ„้ซ„่†œ็˜คใฎ1/5๏ฝž1/10ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไพ‹ใฏๅฅณๅ…ใซๅคšใ„ใ€‚้ซ„่†œ่„ณ็˜คใฎ็™บ็”ŸๆฉŸๅบใฏๅพ“ๆฅ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใจ่€ƒใˆใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ๅพŒใซ่„ณ็ต„็น”ใฎๅ‘จๅ›ฒใฎ้–“่‘‰็ต„็น”ใฎ็™บ็”Ÿ็•ฐๅธธใŒๅŽŸๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ๅพ“ๆฅใฎ่€ƒใˆใซๅพ“ใ„็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ็–พๆ‚ฃใฎ็ฏ„็–‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200813 + meningoencephalocele + ใšใ„ใพใใฎใ†ใ‚Šใ‚…ใ† ้ซ„่†œ่„ณ็˜ค - + ้ซ„่†œ่„ณ็˜ค - - 39 - ่„Š้ซ„้ซ„่†œ็˜คใฏไบŒๅˆ†้ ญ่“‹ใ‚„็„ก่„ณ็—‡ใชใฉใจใจใ‚‚ใซ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใซๅŒ…ๆ‹ฌใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ™๏ผŽใƒ’ใƒˆใฎ่ƒŽๅ…ใงใฏ๏ผŒใใฎ่ƒŒๅดใซใ‚ใ‚‹ๅค–่ƒš่‘‰ใ‹ใ‚‰็ฅž็ตŒ็ฎกใŒๅฝขๆˆใ•ใ‚Œ๏ผŒใ“ใ‚ŒใŒ่„ณใƒป่„Š้ซ„ใธใจ็™บ้”ใ—ใฆใ„ใใพใ™๏ผŽ็ฅž็ตŒ็ฎกใŒๅฎŒๅ…จใช็ฎก็Šถๆง‹้€ ใซใชใ‚‹ใฎใฏๅ—็ฒพๅพŒ28ๆ—ฅใ”ใ‚ใจใ•ใ‚Œใฆใ„ใพใ™ใŒ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใŒ่ตทใ“ใ‚Šใ€่„Š้ซ„้ซ„่†œ็˜คใŒ็™บ็”Ÿใ—ใพใ™๏ผŽ๏ผˆๅ›ณ1๏ผ‰่„Š้ซ„้ซ„่†œ็˜คใฎๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€40ๅนดๅ‰ใฏ0.01~0.02%ใงใ—ใŸใŒๆœ€่ฟ‘ใงใฏ0.03~0.04%ใจๅข—ๅŠ ใ—ใฆใ„ใพใ™ใ€‚็ฌฌ1ๅญใŒ่„Š้ซ„้ซ„่†œ็˜คใงใ‚ใ‚‹ใจใ€็ฌฌ2ๅญใซใŠใ‘ใ‚‹ๆœฌ็—‡ใฎ็™บ็”Ÿ็Ž‡ใฏ็ด„5๏ผ…ใจใ•ใ‚ŒใฆใŠใ‚Š๏ผŒใใฎ็™บ็”Ÿใซใฏไฝ•ใ‚‰ใ‹ใฎ้บไผๅ› ๅญใฎ้–ขไธŽใŒๆŽจๅฏŸใ•ใ‚Œใพใ™๏ผŽ1) ไธ€ๆ–นใง๏ผŒๅฆŠๅจ ๅˆๆœŸใฎๅฆŠๅฉฆใซ่‘‰้…ธใ‚’ๆŠ•ไธŽใ™ใ‚‹ใจ๏ผŒไบŒๅˆ†่„ŠๆคŽใ‚’ๅซใ‚€็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็ด„70๏ผ…ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’่ปฝๆธ›ใงใใ‚‹ไบ‹ๅฎŸใ‹ใ‚‰๏ผŒๆฏไฝ“ใฎๆ „้คŠ็Šถๆ…‹ใƒปๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ•ใ‚‰ใซใฏๅ‚ฌๅฅ‡ๅฝขๆ€ง็‰ฉ่ณชใชใฉๅค–็š„่ฆๅ› ใฎ้–ขไธŽใ‚‚้‡่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™๏ผŽ2) ๅŽš็”ŸๅŠดๅƒ็œใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซใ€ๅฅๅธธใชๅฅณๆ€งใงใ‚‚ไธ่ถณใ—ใŒใกใช่‘‰้…ธใฎๆ‘‚ๅ–(0.4mg/day)ใ‚’ๅ‹งใ‚ใฆใ„ใพใ™ใ€‚ - 2200814 - + + 39 + ่„Š้ซ„้ซ„่†œ็˜คใฏไบŒๅˆ†้ ญ่“‹ใ‚„็„ก่„ณ็—‡ใชใฉใจใจใ‚‚ใซ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใซๅŒ…ๆ‹ฌใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ™๏ผŽใƒ’ใƒˆใฎ่ƒŽๅ…ใงใฏ๏ผŒใใฎ่ƒŒๅดใซใ‚ใ‚‹ๅค–่ƒš่‘‰ใ‹ใ‚‰็ฅž็ตŒ็ฎกใŒๅฝขๆˆใ•ใ‚Œ๏ผŒใ“ใ‚ŒใŒ่„ณใƒป่„Š้ซ„ใธใจ็™บ้”ใ—ใฆใ„ใใพใ™๏ผŽ็ฅž็ตŒ็ฎกใŒๅฎŒๅ…จใช็ฎก็Šถๆง‹้€ ใซใชใ‚‹ใฎใฏๅ—็ฒพๅพŒ28ๆ—ฅใ”ใ‚ใจใ•ใ‚Œใฆใ„ใพใ™ใŒ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใŒ่ตทใ“ใ‚Šใ€่„Š้ซ„้ซ„่†œ็˜คใŒ็™บ็”Ÿใ—ใพใ™๏ผŽ๏ผˆๅ›ณ1๏ผ‰่„Š้ซ„้ซ„่†œ็˜คใฎๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€40ๅนดๅ‰ใฏ0.01~0.02%ใงใ—ใŸใŒๆœ€่ฟ‘ใงใฏ0.03~0.04%ใจๅข—ๅŠ ใ—ใฆใ„ใพใ™ใ€‚็ฌฌ1ๅญใŒ่„Š้ซ„้ซ„่†œ็˜คใงใ‚ใ‚‹ใจใ€็ฌฌ2ๅญใซใŠใ‘ใ‚‹ๆœฌ็—‡ใฎ็™บ็”Ÿ็Ž‡ใฏ็ด„5๏ผ…ใจใ•ใ‚ŒใฆใŠใ‚Š๏ผŒใใฎ็™บ็”Ÿใซใฏไฝ•ใ‚‰ใ‹ใฎ้บไผๅ› ๅญใฎ้–ขไธŽใŒๆŽจๅฏŸใ•ใ‚Œใพใ™๏ผŽ1) ไธ€ๆ–นใง๏ผŒๅฆŠๅจ ๅˆๆœŸใฎๅฆŠๅฉฆใซ่‘‰้…ธใ‚’ๆŠ•ไธŽใ™ใ‚‹ใจ๏ผŒไบŒๅˆ†่„ŠๆคŽใ‚’ๅซใ‚€็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็ด„70๏ผ…ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’่ปฝๆธ›ใงใใ‚‹ไบ‹ๅฎŸใ‹ใ‚‰๏ผŒๆฏไฝ“ใฎๆ „้คŠ็Šถๆ…‹ใƒปๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ•ใ‚‰ใซใฏๅ‚ฌๅฅ‡ๅฝขๆ€ง็‰ฉ่ณชใชใฉๅค–็š„่ฆๅ› ใฎ้–ขไธŽใ‚‚้‡่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™๏ผŽ2) ๅŽš็”ŸๅŠดๅƒ็œใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซใ€ๅฅๅธธใชๅฅณๆ€งใงใ‚‚ไธ่ถณใ—ใŒใกใช่‘‰้…ธใฎๆ‘‚ๅ–(0.4mg/day)ใ‚’ๅ‹งใ‚ใฆใ„ใพใ™ใ€‚ + NANDO:2200814 + myelomeningocele + ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ† ่„Š้ซ„้ซ„่†œ็˜ค + - + ่„Š้ซ„้ซ„่†œ็˜ค - - 37 - ่„Š้ซ„่„‚่‚ช่…ซใฏๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽใ‚’ไปฃ่กจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆๅฅ‡ๅฝข๏ผ‰ใงใ‚ใ‚‹๏ผŽ็šฎ่†šๅค–่ƒš่‘‰ใจ็ฅž็ตŒๅค–่ƒš่‘‰ใฎๅˆ†้›ข้šœๅฎณใซใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€ ็šฎไธ‹ใจ้€ฃ็ถšใ—ใŸ่„‚่‚ช็ต„็น”ใŒ่„ŠๆคŽ็ฎกๅ†…ใซไพตๅ…ฅใ™ใ‚‹๏ผŽ่…ฐไป™้ƒจใซๅฅฝ็™บใ™ใ‚‹๏ผŽ่„‚่‚ช่…ซใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่„Š้ซ„ๅœง่ฟซๅŠใณ็ฅž็ตŒ็ต„็น”็‰ฝๅผ•๏ผˆ่„Š้ซ„ไฟ‚็•™๏ผ‰ใซใ‚ˆใ‚Šใ€ ่†€่ƒฑ็›ด่…ธ้šœๅฎณ๏ผˆๆŽ’ๅฐฟใƒปๆŽ’ไพฟ้šœๅฎณ๏ผ‰ใŠใ‚ˆใณไธ‹่‚ข้šœๅฎณ๏ผˆ้‹ๅ‹•้šœๅฎณใƒปๆ„Ÿ่ฆš้šœๅฎณใƒป้–ข็ฏ€ๅค‰ๅฝข๏ผ‰็ญ‰ใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ ่„Š้ซ„่„‚่‚ช่…ซใฏ่ปŸ่†œไธ‹่„‚่‚ช่…ซใ€่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใ€่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใฏ็”ปๅƒๆ‰€่ฆ‹ใ‚’ใ‚‚ใจใซใ•ใ‚‰ใซๅˆ†้กžใ•ใ‚Œใ€ ่„Š้ซ„่„‚่‚ช้ซ„่†œ็˜คใ‚‚ๅซใพใ‚Œใ‚‹๏ผŽไธ€่ˆฌใซใ€่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆใฏ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅŠใณ่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใ‚’ๆŒ‡ใ™๏ผˆๅ›ณ1,2๏ผ‰๏ผŽ (ๅ›ฝๅ†…ใง่„Š้ซ„่„‚่‚ช่…ซใฏ้€šๅธธspinal lipomaใจ่‹ฑ่จณใ•ใ‚Œใ€lipomyelomenigoceleใฏ่„‚่‚ช้ซ„่†œ็˜คใจใ—ใฆไธŠ่ฟฐใ—ใŸ้€šใ‚Šใ€่„Š้ซ„่„‚่‚ช่…ซใฎไบœๅž‹ใ‚’ๆŒ‡ใ™๏ผŽ ใ—ใ‹ใ—ใ€ๆตทๅค–ใฎๆ–‡็Œฎใงใฏ่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆlipomyelomeningocele, lipomeingoceleใŒไฝฟ็”จใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ)ๅ›ณ1:่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅ›ณ2:่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซ - 2200815 - + + 37 + ่„Š้ซ„่„‚่‚ช่…ซใฏๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽใ‚’ไปฃ่กจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆๅฅ‡ๅฝข๏ผ‰ใงใ‚ใ‚‹๏ผŽ็šฎ่†šๅค–่ƒš่‘‰ใจ็ฅž็ตŒๅค–่ƒš่‘‰ใฎๅˆ†้›ข้šœๅฎณใซใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€ ็šฎไธ‹ใจ้€ฃ็ถšใ—ใŸ่„‚่‚ช็ต„็น”ใŒ่„ŠๆคŽ็ฎกๅ†…ใซไพตๅ…ฅใ™ใ‚‹๏ผŽ่…ฐไป™้ƒจใซๅฅฝ็™บใ™ใ‚‹๏ผŽ่„‚่‚ช่…ซใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่„Š้ซ„ๅœง่ฟซๅŠใณ็ฅž็ตŒ็ต„็น”็‰ฝๅผ•๏ผˆ่„Š้ซ„ไฟ‚็•™๏ผ‰ใซใ‚ˆใ‚Šใ€ ่†€่ƒฑ็›ด่…ธ้šœๅฎณ๏ผˆๆŽ’ๅฐฟใƒปๆŽ’ไพฟ้šœๅฎณ๏ผ‰ใŠใ‚ˆใณไธ‹่‚ข้šœๅฎณ๏ผˆ้‹ๅ‹•้šœๅฎณใƒปๆ„Ÿ่ฆš้šœๅฎณใƒป้–ข็ฏ€ๅค‰ๅฝข๏ผ‰็ญ‰ใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ ่„Š้ซ„่„‚่‚ช่…ซใฏ่ปŸ่†œไธ‹่„‚่‚ช่…ซใ€่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใ€่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใฏ็”ปๅƒๆ‰€่ฆ‹ใ‚’ใ‚‚ใจใซใ•ใ‚‰ใซๅˆ†้กžใ•ใ‚Œใ€ ่„Š้ซ„่„‚่‚ช้ซ„่†œ็˜คใ‚‚ๅซใพใ‚Œใ‚‹๏ผŽไธ€่ˆฌใซใ€่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆใฏ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅŠใณ่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใ‚’ๆŒ‡ใ™๏ผˆๅ›ณ1,2๏ผ‰๏ผŽ (ๅ›ฝๅ†…ใง่„Š้ซ„่„‚่‚ช่…ซใฏ้€šๅธธspinal lipomaใจ่‹ฑ่จณใ•ใ‚Œใ€lipomyelomenigoceleใฏ่„‚่‚ช้ซ„่†œ็˜คใจใ—ใฆไธŠ่ฟฐใ—ใŸ้€šใ‚Šใ€่„Š้ซ„่„‚่‚ช่…ซใฎไบœๅž‹ใ‚’ๆŒ‡ใ™๏ผŽ ใ—ใ‹ใ—ใ€ๆตทๅค–ใฎๆ–‡็Œฎใงใฏ่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆlipomyelomeningocele, lipomeingoceleใŒไฝฟ็”จใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ)ๅ›ณ1:่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅ›ณ2:่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซ + NANDO:2200815 + Spinal lipoma + ใ›ใใšใ„ใ—ใผใ†ใ—ใ‚… ่„Š้ซ„่„‚่‚ช่…ซ - + + ่„Š้ซ„่„‚่‚ช่…ซ - - 55 - ไป™้ชจใฎๅ…ˆ็ซฏใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ๅฅ‡ๅฝข่…ซใงใ€่‡€้ƒจใ‚ˆใ‚Šๅค–ๆ–นใธ็ชๅ‡บใพใŸใฏ้ชจ็›ค่…”ๅ†…ใƒป่…น่…”ๅ†…ใธ้€ฒๅฑ•ใ™ใ‚‹ใ€‚ๅ……ๅฎŸๆ€งใ‹ใ‚‰ๅšข่ƒžๆ€งใฎใ‚‚ใฎใพใงๆง˜ใ€…ใชๅฝขๆ…‹ใ‚’ใจใ‚‹ใ€‚ - 2200816 - + + 55 + ไป™้ชจใฎๅ…ˆ็ซฏใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ๅฅ‡ๅฝข่…ซใงใ€่‡€้ƒจใ‚ˆใ‚Šๅค–ๆ–นใธ็ชๅ‡บใพใŸใฏ้ชจ็›ค่…”ๅ†…ใƒป่…น่…”ๅ†…ใธ้€ฒๅฑ•ใ™ใ‚‹ใ€‚ๅ……ๅฎŸๆ€งใ‹ใ‚‰ๅšข่ƒžๆ€งใฎใ‚‚ใฎใพใงๆง˜ใ€…ใชๅฝขๆ…‹ใ‚’ใจใ‚‹ใ€‚ + NANDO:2200816 + sacrococcygeal teratoma + ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚… ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ - + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ - - 66 - ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใ‚„ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็•ฐๅฝขๆˆใ‚’ๅซใฟใ€็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ใจๅŒ็พฉใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200817 - + + 66 + ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใ‚„ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็•ฐๅฝขๆˆใ‚’ๅซใฟใ€็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ใจๅŒ็พฉใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200817 + lissencephaly + ใ‹ใคใฎใ†ใ—ใ‚‡ใ† ๆป‘่„ณ็—‡ - + ๆป‘่„ณ็—‡ - - 72 - ๅคง่„ณ็šฎ่ณชใŒ่„ณๅฎคใซๅˆฐ้”ใ—๏ผŒใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸๅ…ˆๅคฉ็š„ใช่„ณๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใฎ็šฎ่ณชใฏๅคšๅฐ่„ณๅ›žใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคšๅฐ่„ณๅ›žใ‚’ไผดใ‚ใšใ€ใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸ็Šถๆ…‹ใ‚’ๅญ”่„ณ็—‡ใจใ‚ˆใณๅŒบๅˆฅใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€็™บ็”Ÿๆ™‚ๆœŸใฎ้•ใ„ใง็—…ๆ…‹ใฏๅ…ฑ้€šใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚็•ฐๅธธ้–“้š™ใจใ—ใฆ้ซ„ๆถฒ่…”ใ‚’ๆ˜Žใ‚‰ใ‹ใซ่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’โ€open lipโ€๏ผŒ้–“้š™ใŒ้–‰ใ˜ใฆ้ซ„ๆถฒ่…”ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’โ€closed lipโ€ใจใ‚ˆใถใ€‚ - 2200818 - + + 72 + ๅคง่„ณ็šฎ่ณชใŒ่„ณๅฎคใซๅˆฐ้”ใ—๏ผŒใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸๅ…ˆๅคฉ็š„ใช่„ณๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใฎ็šฎ่ณชใฏๅคšๅฐ่„ณๅ›žใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคšๅฐ่„ณๅ›žใ‚’ไผดใ‚ใšใ€ใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸ็Šถๆ…‹ใ‚’ๅญ”่„ณ็—‡ใจใ‚ˆใณๅŒบๅˆฅใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€็™บ็”Ÿๆ™‚ๆœŸใฎ้•ใ„ใง็—…ๆ…‹ใฏๅ…ฑ้€šใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚็•ฐๅธธ้–“้š™ใจใ—ใฆ้ซ„ๆถฒ่…”ใ‚’ๆ˜Žใ‚‰ใ‹ใซ่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’โ€open lipโ€๏ผŒ้–“้š™ใŒ้–‰ใ˜ใฆ้ซ„ๆถฒ่…”ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’โ€closed lipโ€ใจใ‚ˆใถใ€‚ + NANDO:2200818 + schizencephaly + ใ‚Œใคใฎใ†ใ—ใ‚‡ใ† ่ฃ‚่„ณ็—‡ - + ่ฃ‚่„ณ็—‡ - - 68 - ็ฅž็ตŒ็ฎกใฎ่…นๅดๅŒ–้šœๅฎณใซใ‚ˆใ‚Šๅทฆๅณใฎๅคง่„ณๅŠ็ƒ๏ผˆๅ‰่„ณ๏ผ‰ใŒๅˆ†้›ขไธๅ…จใ‚’็”Ÿใ˜๏ผŒๆญฃไธญ้ƒจใงๅคง่„ณ็šฎ่ณชใƒปๅŸบๅบ•ๆ ธใƒป่ฆ–ๅบŠใฎ็™’ๅˆใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚่„ณ่‘‰ๅฝขๆˆใฎ็จ‹ๅบฆใซใ‚ˆใ‚Š็„กๅˆ†่‘‰alobar,ๅŠๅˆ†่‘‰semilobar,ๅˆ†่‘‰lobarใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200819 - + + 68 + ็ฅž็ตŒ็ฎกใฎ่…นๅดๅŒ–้šœๅฎณใซใ‚ˆใ‚Šๅทฆๅณใฎๅคง่„ณๅŠ็ƒ๏ผˆๅ‰่„ณ๏ผ‰ใŒๅˆ†้›ขไธๅ…จใ‚’็”Ÿใ˜๏ผŒๆญฃไธญ้ƒจใงๅคง่„ณ็šฎ่ณชใƒปๅŸบๅบ•ๆ ธใƒป่ฆ–ๅบŠใฎ็™’ๅˆใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚่„ณ่‘‰ๅฝขๆˆใฎ็จ‹ๅบฆใซใ‚ˆใ‚Š็„กๅˆ†่‘‰alobar,ๅŠๅˆ†่‘‰semilobar,ๅˆ†่‘‰lobarใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200819 + holoprosencephaly + ใœใ‚“ใœใ‚“ใฎใ†ใปใ†ใ—ใ‚‡ใ† ๅ…จๅ‰่„ณ่ƒž็—‡ - + ๅ…จๅ‰่„ณ่ƒž็—‡ - - 71 - ้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ3็—‡็Šถใ‚’ใใŸใ™ๅ…ธๅž‹ไพ‹ใฏ30%ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200820 - + + 71 + ้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ3็—‡็Šถใ‚’ใใŸใ™ๅ…ธๅž‹ไพ‹ใฏ30%ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200820 + septo-optic dysplasia + ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡ + - - + De Morsier syndrome ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡ - - 70 - ็ฌฌ4่„ณๅฎคใจ้€ฃ็ถšใ—ใŸๅพŒ้ ญ่“‹็ชฉๆญฃไธญใฎๅšข่ƒžใจๅฐ่„ณ่™ซ้ƒจใฎๅฎŒๅ…จใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆฌ ๆใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉ็š„็—…ๅค‰ใงใ™ใ€‚ๅฐ่„ณใƒ†ใƒณใƒˆใ€้™่„ˆๆดžไบคไผšใ‚„ๆจช้™่„ˆๆดžใฎๆŒ™ไธŠใ‚’ไผดใ„ใพใ™ใ€‚ - 2200821 - + + 70 + ็ฌฌ4่„ณๅฎคใจ้€ฃ็ถšใ—ใŸๅพŒ้ ญ่“‹็ชฉๆญฃไธญใฎๅšข่ƒžใจๅฐ่„ณ่™ซ้ƒจใฎๅฎŒๅ…จใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆฌ ๆใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉ็š„็—…ๅค‰ใงใ™ใ€‚ๅฐ่„ณใƒ†ใƒณใƒˆใ€้™่„ˆๆดžไบคไผšใ‚„ๆจช้™่„ˆๆดžใฎๆŒ™ไธŠใ‚’ไผดใ„ใพใ™ใ€‚ + NANDO:2200821 + Dandy-Walker syndrome + ใ ใ‚“ใงใƒใƒผใƒปใ†ใ‰ใƒผใ‹ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค + - + Dandy-Walker็—‡ๅ€™็พค ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค - - 69 - ๆฐด้ ญ็—‡ใฏไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ ญ่“‹ๅ†…๏ผˆ่„ณๅฎคใ€ใใ‚‚่†œไธ‹่…”ใชใฉ๏ผ‰ใซ้Žๅ‰ฐใช้ซ„ๆถฒใŒ่ฒฏ็•™ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™๏ผŽ้€šๅธธใฏ่„ณๅฎคๆ‹กๅคงใ‚’ไผดใ†ใŒใ€่„ณ่กจใใ‚‚่†œไธ‹่…”ไธปไฝ“ใซ้ซ„ๆถฒใŒ่ฒฏ็•™๏ผˆๅค–ๆฐด้ ญ็—‡๏ผ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ซ„ๆถฒ่ฒฏ็•™ใซไผดใ„้ ญ่“‹ๅ†…ๅœงไบข้€ฒใซ็”ฑๆฅใ™ใ‚‹ๅ„็จฎ็—‡็Šถใƒปๅ…†ๅ€™ใ‚’ไผดใ†๏ผŽๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ใฏใ€ๆฐด้ ญ็—‡ใฎไธญใงใ‚‚่ƒŽๅ…ๆœŸใซ็™บ็—‡ใ—่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ€ใŠใ‚ˆใณ่ƒŽๅ…ๆœŸใซ็™บ็”Ÿใ—ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ‚’ๆŒ‡ใ™๏ผŽใ“ใฎไธญใซใฏไบŒๅˆ†้ ญ่“‹ใƒป่„Š้ซ„้ซ„่†œ็˜คใƒปๅ…จๅ‰่„ณ่ƒž็—‡ใชใฉไป–ใฎๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใƒป็—‡ๅ€™็พคใซไผดใฃใŸใ‚‚ใฎใจใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒไธๆ˜Žใช็‰น็™บๆ€งๆฐด้ ญ็—‡๏ผˆ้บไผๆ€งๆฐด้ ญ็—‡ใƒปๆฐด็„ก่„ณ็—‡ใƒป6q deletion็—‡ๅ€™็พคใชใฉใฎๆŸ“่‰ฒไฝ“็•ฐๅธธใซไผดใ†ใ‚‚ใฎใชใฉ๏ผ‰ใ‚’ๅซใ‚€๏ผŽ - 2200822 - + + 69 + ๆฐด้ ญ็—‡ใฏไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ ญ่“‹ๅ†…๏ผˆ่„ณๅฎคใ€ใใ‚‚่†œไธ‹่…”ใชใฉ๏ผ‰ใซ้Žๅ‰ฐใช้ซ„ๆถฒใŒ่ฒฏ็•™ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™๏ผŽ้€šๅธธใฏ่„ณๅฎคๆ‹กๅคงใ‚’ไผดใ†ใŒใ€่„ณ่กจใใ‚‚่†œไธ‹่…”ไธปไฝ“ใซ้ซ„ๆถฒใŒ่ฒฏ็•™๏ผˆๅค–ๆฐด้ ญ็—‡๏ผ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ซ„ๆถฒ่ฒฏ็•™ใซไผดใ„้ ญ่“‹ๅ†…ๅœงไบข้€ฒใซ็”ฑๆฅใ™ใ‚‹ๅ„็จฎ็—‡็Šถใƒปๅ…†ๅ€™ใ‚’ไผดใ†๏ผŽๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ใฏใ€ๆฐด้ ญ็—‡ใฎไธญใงใ‚‚่ƒŽๅ…ๆœŸใซ็™บ็—‡ใ—่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ€ใŠใ‚ˆใณ่ƒŽๅ…ๆœŸใซ็™บ็”Ÿใ—ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ‚’ๆŒ‡ใ™๏ผŽใ“ใฎไธญใซใฏไบŒๅˆ†้ ญ่“‹ใƒป่„Š้ซ„้ซ„่†œ็˜คใƒปๅ…จๅ‰่„ณ่ƒž็—‡ใชใฉไป–ใฎๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใƒป็—‡ๅ€™็พคใซไผดใฃใŸใ‚‚ใฎใจใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒไธๆ˜Žใช็‰น็™บๆ€งๆฐด้ ญ็—‡๏ผˆ้บไผๆ€งๆฐด้ ญ็—‡ใƒปๆฐด็„ก่„ณ็—‡ใƒป6q deletion็—‡ๅ€™็พคใชใฉใฎๆŸ“่‰ฒไฝ“็•ฐๅธธใซไผดใ†ใ‚‚ใฎใชใฉ๏ผ‰ใ‚’ๅซใ‚€๏ผŽ + NANDO:2200822 + congenital hydrocephalus + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ™ใ„ใจใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ - + ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ - - 67 - ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใฏใ€ๅคง้ ญใซๅŠ ใˆใฆๅคšๅฐ่„ณๅ›žใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€้Žๆˆ้•ทใ€ๆŒ‡่ถพๅฅ‡ๅฝขใ€็ตๅˆ็ต„็น”็•ฐๅธธใชใฉใ‚’่ชใ‚ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนด็—‡ๅ€™็พคใจใ—ใฆ่ช่ญ˜ใ•ใ‚Œใ€2012ๅนดใซ็ดฐ่ƒžๅข—ๆฎ–ใซ้–ขไธŽใ™ใ‚‹mTORใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใŒ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚Œใฆใ‹ใ‚‰ๅ ฑๅ‘Šไพ‹ใŒๆ€ฅๅข—ใ—ใฆใ„ใ‚‹ใ€‚ๅทจ่„ณใซใ‚ˆใ‚Šใ€้ ญๅ›ฒใŒๆ‹กๅคงใ™ใ‚‹ใ ใ‘ใงใชใใ€ๅฐ่„ณๆ‰ๆกƒไธ‹ๅž‚ใซใ‚ˆใ‚‹ๆฐด้ ญ็—‡ใ‚„่„Š้ซ„็ฉบๆดž็—‡ใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚Šใ€ๆ™‚ใซๆ‰‹่ก“ใ‚’่ฆใ™ใ‚‹ใ€‚ใพใŸใ€ๅคšๅฐ่„ณๅ›žใชใฉใ€่„ณๅฎŸ่ณชใฎๅค‰ๅŒ–ใ‚’ๆฅใŸใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏMacrocephaly-cutis marmorata telangiectasia congenitaใฎ็—…ๅใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹็šฎ่†š็—…ๅค‰ใฏๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚Šใ€ๅคง็†็Ÿณๆง˜็šฎๆ–‘ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใŒๆญฃ็ขบใซ็—…ๆ…‹ใ‚’่กจใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200823 - + + 67 + ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใฏใ€ๅคง้ ญใซๅŠ ใˆใฆๅคšๅฐ่„ณๅ›žใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€้Žๆˆ้•ทใ€ๆŒ‡่ถพๅฅ‡ๅฝขใ€็ตๅˆ็ต„็น”็•ฐๅธธใชใฉใ‚’่ชใ‚ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนด็—‡ๅ€™็พคใจใ—ใฆ่ช่ญ˜ใ•ใ‚Œใ€2012ๅนดใซ็ดฐ่ƒžๅข—ๆฎ–ใซ้–ขไธŽใ™ใ‚‹mTORใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใŒ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚Œใฆใ‹ใ‚‰ๅ ฑๅ‘Šไพ‹ใŒๆ€ฅๅข—ใ—ใฆใ„ใ‚‹ใ€‚ๅทจ่„ณใซใ‚ˆใ‚Šใ€้ ญๅ›ฒใŒๆ‹กๅคงใ™ใ‚‹ใ ใ‘ใงใชใใ€ๅฐ่„ณๆ‰ๆกƒไธ‹ๅž‚ใซใ‚ˆใ‚‹ๆฐด้ ญ็—‡ใ‚„่„Š้ซ„็ฉบๆดž็—‡ใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚Šใ€ๆ™‚ใซๆ‰‹่ก“ใ‚’่ฆใ™ใ‚‹ใ€‚ใพใŸใ€ๅคšๅฐ่„ณๅ›žใชใฉใ€่„ณๅฎŸ่ณชใฎๅค‰ๅŒ–ใ‚’ๆฅใŸใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏMacrocephaly-cutis marmorata telangiectasia congenitaใฎ็—…ๅใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹็šฎ่†š็—…ๅค‰ใฏๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚Šใ€ๅคง็†็Ÿณๆง˜็šฎๆ–‘ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใŒๆญฃ็ขบใซ็—…ๆ…‹ใ‚’่กจใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200823 + Megalencephaly-capillary malformation syndrome + ใใ‚‡ใฎใ†ใ—ใ‚‡ใ†๏ผใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใใ‘ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค - + Megalencephaly-capillary malformation-polymicrogyria ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค - - 21 - ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏใ€1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž(่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†)ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พคใฏใ€1969ๅนดใซJoubertใŒใƒ•ใƒฉใƒณใ‚น็ณปใ‚ซใƒŠใƒ€ไบบใฎๅฎถๆ—ใซ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ‘ผๅธ็•ฐๅธธใ€็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ€ๅฐ่„ณ่™ซ้ƒจไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ๅˆใ‚ใฆๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒไธ–็•Œใง100ไพ‹ไปฅไธŠใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ใ“ใฎๆœฌๆฅใฎJoubert็—‡ๅ€™็พคใซ่…Ž้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใชใฉใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใ€Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200824 - + + 21 + ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏใ€1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž(่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†)ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พคใฏใ€1969ๅนดใซJoubertใŒใƒ•ใƒฉใƒณใ‚น็ณปใ‚ซใƒŠใƒ€ไบบใฎๅฎถๆ—ใซ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ‘ผๅธ็•ฐๅธธใ€็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ€ๅฐ่„ณ่™ซ้ƒจไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ๅˆใ‚ใฆๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒไธ–็•Œใง100ไพ‹ไปฅไธŠใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ใ“ใฎๆœฌๆฅใฎJoubert็—‡ๅ€™็พคใซ่…Ž้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใชใฉใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใ€Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200824 + Joubert syndrome related disorders + ใ˜ใ‚…ในใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ - + Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ - - 81 - ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ - 2200825 - + + 81 + ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ + NANDO:2200825 + Rett syndrome + ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค + - - + Rett็—‡ๅ€™็พค ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค - - 24 - Tuberous sclerosis(็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡)ใซ้–ขใ™ใ‚‹่จ˜่ผ‰ใฏ, 1835ๅนดPFO Rayerใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€1862ๅนดvon Recklinghausen ใซใ‚ˆใ‚Šbrain sclerosis ใ‚’ไผดใฃใŸๆ–ฐ็”Ÿๅ…ใฎcardiac tumors (myomata)ใŒใ€ใใฎๅพŒ1880ๅนดใซใ€Bournevilleใซใ‚ˆใ‚Šใฆใ‚“ใ‹ใ‚“ใ‚’ไผดใ†็ฒพ็ฅž็™บ้”้…ๆปžใฎๆ‚ฃ่€…ใฎๅ‰–ๆคœๆ‰€่ฆ‹ใจใ—ใฆ่„ณใซ็กฌๅŒ–ใ—ใŸ็ต็ฏ€ๆ€ง็—…ๅค‰'Tuberous sclerosis of the cerebral convolutions' ใจ่จ€ใ†่กจ็พใŒไฝฟใ‚ใ‚Œใ€ใ“ใ‚ŒใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅTuberous sclerosisใฎ็”ฑๆฅใจใชใฃใŸใ€‚ใ•ใ‚‰ใซใ€1890ๅนดใ€pringleใฏ้ก”้ขใฎ็šฎ่†š็—‡็Šถใ‚’adenoma sebaceum๏ผˆๅพŒๅนดใ“ใ‚Œใฏadenoma sebaceumใงใฏใชใangiofibromaใงใ‚ใ‚‹ใ“ใจใŒ็ขบ่ชใ•ใ‚Œใ‚‹๏ผ‰ใจๅ ฑๅ‘Šใ—ใŸใ€‚ใ“ใ‚ŒใŒๆœฌ็—‡ใŒBourneville-Pringle็—…ใ‚ใ‚‹ใ„ใฏPringle็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ‚†ใˆใ‚“ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ้บไผๅฝขๅผใซ้–ขใ—ใฆใฏใ€1935ๅนดใซGuntherใจPenroseใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฏๅคใใ‹ใ‚‰็Ÿฅใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใฏใ‚ใฃใŸใŒใ€ใใฎๅพŒ็ด„ๅŠไธ–็ด€ใซใ‚ใŸใฃใฆใปใจใ‚“ใฉ้€ฒๆญฉใŒ่ชใ‚ใ‚‰ใ‚Œใชใ‹ใฃใŸใ€‚1993ๅนดใซEuropian chromosome 16 tuberous sclerosis consortiumใซใ‚ˆใฃใฆ16็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฎ้บไผๅญใฎไธ€ใคTSC2้บไผๅญใŒใ€1997ๅนดใซVan Slegtnenhorstใ‚‰ใซใ‚ˆใฃใฆ9็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซTSC1้บไผๅญใŒใ‚ใ„ใคใ„ใงๅŒๅฎšใ•ใ‚Œใ‚‹ใซๅŠใ‚“ใงใ€ๆœฌ็—‡ใฎ่งฃๆ˜ŽใŒๆ€ฅ้€Ÿใซ้€ฒใ‚“ใ ใ€‚ใใ‚Œใซไผดใ„ใ€ๆœฌ็—‡ใฏ ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡่ค‡ๅˆไฝ“(Tuberous sclerosis complex)(TSC)ใจใ‚ˆใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸใ€‚TSC1้บไผๅญใจTSC2้บไผๅญใจใฏใ€ๅ…จใ็•ฐใชใฃใŸ้บไผๅญใงใ‚ใ‚‹ใŒใ€็พๅœจใฎใจใ“ใ‚ใ€่‡จๅบŠ็š„ใซTSC1,TSC2ใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใฏใงใใชใ„ใ€‚ๆœฌ็—‡ใฏๅ…จ่บซใฎ้Ž่ชค่…ซใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ€ๅคๅ…ธ็š„ใซใฏใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็™ฒ็™‡็™บไฝœๅŠใณ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซ(angiofibroma)ใ‚’ไธ‰ไธปๅพดใจใ—ใฆใใŸใŒใ€ๅ‰่ฟฐใ—ใŸใ‚ˆใ†ใซใ€้บไผๅญๆคœๆŸปใŒๅฏ่ƒฝใซใชใ‚Šใ€็จฎใ€…ใฎๆคœๆŸปๆŠ€่ก“ใ‚„ๆฉŸๅ™จใฎ้€ฒๆญฉใซไผดใ„ใ€ๅคšๆ•ฐใฎ้žๅ…ธๅž‹็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ใฎ่‡จๅบŠ็š„ใช็‰นๅพดใซๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€็ฅž็ตŒ็—‡็Šถใซ้–ขใ—ใฆใฏใ€ๅพ“ๆฅใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚„ใฆใ‚“ใ‹ใ‚“ใฎใฟใงใชใใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใšใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใฆใŠใ‚Šใ€ใ•ใ‚‰ใซใ€ๅนผๅฐๅ…ๆœŸใซ็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใšใซใ€ๆˆไบบใซใชใฃใฆๅˆใ‚ใฆ็šฎ่†šใ‚„่…Žใ€่‚บ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใ‚‚ๅข—ๅŠ ใ—ใฆใใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใซใจใฃใฆใฏใ€่ก€็ฎก็ญ‹่„‚่‚ช่…ซใชใฉใฎ่…Ž็—…ๅค‰ใ‚„ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆLymphangioleiomyomatosis LAM๏ผ‰ใชใฉใฎ่‚บ็—…ๅค‰ใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹็—…ๅค‰ใจใ—ใฆ้‡่ฆใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็”Ÿๅ‘ฝไบˆๅพŒใซใฏ้–ขไธŽใ—ใชใ„ใŒ็šฎ่†š็—…ๅค‰็‰นใซ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใฏ็คพไผš็”Ÿๆดปใ‚’่กŒใ†ไธŠใงๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใ้šœๅฎณใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎใ‚ˆใ†ใซใ€็šฎ่†šใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็›ฎใ€่…Žใ€ๅฟƒใ€่‚บใ€็ญ‰ใปใผๅ…จ่บซใซ็จฎใ€…ใฎ้Ž่ชค่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ใจๅŒๆ™‚ใซใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใ˜ใ€ใ—ใ‹ใ‚‚ใ€ๆœฌ็—‡ใงใฏใ€่‡จๅบŠ็—‡็Šถใฎ็จ‹ๅบฆใซใฏใฐใ‚‰ใคใใŒๅคšใใ€้‡็—‡ๅบฆใฎ็•ฐใชใ‚‹็จฎใ€…ใฎ็—…ๅค‰ใŒ็”Ÿๆถฏใซใ‚ใŸใ‚‹่‰ฒใ€…ใชๆ™‚ๆœŸใซใŠใ“ใฃใฆใใ‚‹ใจใ„ใ†ๆ™‚้–“็š„ใ€็ฉบ้–“็š„ใ€็จฎ้กžใ€็จ‹ๅบฆใฎๅคšๆง˜ๆ€งใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 2200826 - + + 24 + Tuberous sclerosis(็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡)ใซ้–ขใ™ใ‚‹่จ˜่ผ‰ใฏ, 1835ๅนดPFO Rayerใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€1862ๅนดvon Recklinghausen ใซใ‚ˆใ‚Šbrain sclerosis ใ‚’ไผดใฃใŸๆ–ฐ็”Ÿๅ…ใฎcardiac tumors (myomata)ใŒใ€ใใฎๅพŒ1880ๅนดใซใ€Bournevilleใซใ‚ˆใ‚Šใฆใ‚“ใ‹ใ‚“ใ‚’ไผดใ†็ฒพ็ฅž็™บ้”้…ๆปžใฎๆ‚ฃ่€…ใฎๅ‰–ๆคœๆ‰€่ฆ‹ใจใ—ใฆ่„ณใซ็กฌๅŒ–ใ—ใŸ็ต็ฏ€ๆ€ง็—…ๅค‰'Tuberous sclerosis of the cerebral convolutions' ใจ่จ€ใ†่กจ็พใŒไฝฟใ‚ใ‚Œใ€ใ“ใ‚ŒใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅTuberous sclerosisใฎ็”ฑๆฅใจใชใฃใŸใ€‚ใ•ใ‚‰ใซใ€1890ๅนดใ€pringleใฏ้ก”้ขใฎ็šฎ่†š็—‡็Šถใ‚’adenoma sebaceum๏ผˆๅพŒๅนดใ“ใ‚Œใฏadenoma sebaceumใงใฏใชใangiofibromaใงใ‚ใ‚‹ใ“ใจใŒ็ขบ่ชใ•ใ‚Œใ‚‹๏ผ‰ใจๅ ฑๅ‘Šใ—ใŸใ€‚ใ“ใ‚ŒใŒๆœฌ็—‡ใŒBourneville-Pringle็—…ใ‚ใ‚‹ใ„ใฏPringle็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ‚†ใˆใ‚“ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ้บไผๅฝขๅผใซ้–ขใ—ใฆใฏใ€1935ๅนดใซGuntherใจPenroseใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฏๅคใใ‹ใ‚‰็Ÿฅใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใฏใ‚ใฃใŸใŒใ€ใใฎๅพŒ็ด„ๅŠไธ–็ด€ใซใ‚ใŸใฃใฆใปใจใ‚“ใฉ้€ฒๆญฉใŒ่ชใ‚ใ‚‰ใ‚Œใชใ‹ใฃใŸใ€‚1993ๅนดใซEuropian chromosome 16 tuberous sclerosis consortiumใซใ‚ˆใฃใฆ16็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฎ้บไผๅญใฎไธ€ใคTSC2้บไผๅญใŒใ€1997ๅนดใซVan Slegtnenhorstใ‚‰ใซใ‚ˆใฃใฆ9็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซTSC1้บไผๅญใŒใ‚ใ„ใคใ„ใงๅŒๅฎšใ•ใ‚Œใ‚‹ใซๅŠใ‚“ใงใ€ๆœฌ็—‡ใฎ่งฃๆ˜ŽใŒๆ€ฅ้€Ÿใซ้€ฒใ‚“ใ ใ€‚ใใ‚Œใซไผดใ„ใ€ๆœฌ็—‡ใฏ ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡่ค‡ๅˆไฝ“(Tuberous sclerosis complex)(TSC)ใจใ‚ˆใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸใ€‚TSC1้บไผๅญใจTSC2้บไผๅญใจใฏใ€ๅ…จใ็•ฐใชใฃใŸ้บไผๅญใงใ‚ใ‚‹ใŒใ€็พๅœจใฎใจใ“ใ‚ใ€่‡จๅบŠ็š„ใซTSC1,TSC2ใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใฏใงใใชใ„ใ€‚ๆœฌ็—‡ใฏๅ…จ่บซใฎ้Ž่ชค่…ซใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ€ๅคๅ…ธ็š„ใซใฏใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็™ฒ็™‡็™บไฝœๅŠใณ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซ(angiofibroma)ใ‚’ไธ‰ไธปๅพดใจใ—ใฆใใŸใŒใ€ๅ‰่ฟฐใ—ใŸใ‚ˆใ†ใซใ€้บไผๅญๆคœๆŸปใŒๅฏ่ƒฝใซใชใ‚Šใ€็จฎใ€…ใฎๆคœๆŸปๆŠ€่ก“ใ‚„ๆฉŸๅ™จใฎ้€ฒๆญฉใซไผดใ„ใ€ๅคšๆ•ฐใฎ้žๅ…ธๅž‹็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ใฎ่‡จๅบŠ็š„ใช็‰นๅพดใซๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€็ฅž็ตŒ็—‡็Šถใซ้–ขใ—ใฆใฏใ€ๅพ“ๆฅใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚„ใฆใ‚“ใ‹ใ‚“ใฎใฟใงใชใใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใšใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใฆใŠใ‚Šใ€ใ•ใ‚‰ใซใ€ๅนผๅฐๅ…ๆœŸใซ็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใšใซใ€ๆˆไบบใซใชใฃใฆๅˆใ‚ใฆ็šฎ่†šใ‚„่…Žใ€่‚บ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใ‚‚ๅข—ๅŠ ใ—ใฆใใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใซใจใฃใฆใฏใ€่ก€็ฎก็ญ‹่„‚่‚ช่…ซใชใฉใฎ่…Ž็—…ๅค‰ใ‚„ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆLymphangioleiomyomatosis LAM๏ผ‰ใชใฉใฎ่‚บ็—…ๅค‰ใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹็—…ๅค‰ใจใ—ใฆ้‡่ฆใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็”Ÿๅ‘ฝไบˆๅพŒใซใฏ้–ขไธŽใ—ใชใ„ใŒ็šฎ่†š็—…ๅค‰็‰นใซ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใฏ็คพไผš็”Ÿๆดปใ‚’่กŒใ†ไธŠใงๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใ้šœๅฎณใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎใ‚ˆใ†ใซใ€็šฎ่†šใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็›ฎใ€่…Žใ€ๅฟƒใ€่‚บใ€็ญ‰ใปใผๅ…จ่บซใซ็จฎใ€…ใฎ้Ž่ชค่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ใจๅŒๆ™‚ใซใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใ˜ใ€ใ—ใ‹ใ‚‚ใ€ๆœฌ็—‡ใงใฏใ€่‡จๅบŠ็—‡็Šถใฎ็จ‹ๅบฆใซใฏใฐใ‚‰ใคใใŒๅคšใใ€้‡็—‡ๅบฆใฎ็•ฐใชใ‚‹็จฎใ€…ใฎ็—…ๅค‰ใŒ็”Ÿๆถฏใซใ‚ใŸใ‚‹่‰ฒใ€…ใชๆ™‚ๆœŸใซใŠใ“ใฃใฆใใ‚‹ใจใ„ใ†ๆ™‚้–“็š„ใ€็ฉบ้–“็š„ใ€็จฎ้กžใ€็จ‹ๅบฆใฎๅคšๆง˜ๆ€งใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:2200826 + tuberous sclerosis complex + ใ‘ใฃใ›ใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ - - + - + TSC - ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ - - 26 - ็šฎ่†šใฎ่‰ฒ็ด ๆ€งๆฏๆ–‘ใจไธญๆžข็ฅž็ตŒ็ณปใฎ่ปŸ่†œ๏ผˆ้ซ„่†œ๏ผ‰ใƒกใƒฉใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200827 - + + 26 + ็šฎ่†šใฎ่‰ฒ็ด ๆ€งๆฏๆ–‘ใจไธญๆžข็ฅž็ตŒ็ณปใฎ่ปŸ่†œ๏ผˆ้ซ„่†œ๏ผ‰ใƒกใƒฉใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200827 + neurocutaneous melanosis + ใ—ใ‚“ใ‘ใ„ใฒใตใ“ใใ—ใ‚‡ใใ—ใ‚‡ใ† ็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡ - + ็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡ - - 25 - Gorlin็—‡ๅ€™็พค๏ผˆใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค๏ผ‰ใฏ1960ๅนดGorlin RJใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็™บ้”ไธŠใฎๅฅ‡ๅฝขใจ้บไผๆ€ง้ซ˜็™บ็™Œๆ€งใ‚’ไฝตใ›ๆŒใค็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅˆฅๅๆฏๆ–‘ๅŸบๅบ•็ดฐ่ƒž็™Œ็—‡ๅ€™็พคใ€ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พคใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็™บ้”ไธŠใฎๅฅ‡ๅฝขใซใฏๆ‰‹ๆŽŒใƒป่ถณๅบ•็šฎ่†šๅฐ้™ฅๅ‡นใ€ไบŒๅˆ†่‚‹้ชจใชใ„ใ—็™’ๅˆ่‚‹้ชจใ€ๆคŽ้ชจ็•ฐๅธธใ€้กŽ้ชจๅšข่ƒžใ€ๅคง่„ณ้ŽŒ็Ÿณ็ฐๅŒ–ใŒใ‚ใ‚Šใ€็™บ็™ŒใซใฏๅŸบๅบ•็ดฐ่ƒž็™Œใ€้ซ„่Šฝ่…ซใ€ๅตๅทฃ่…ซ็˜ใฎ็™บ็”Ÿ ใŒใ‚ˆใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸGorlin็—‡ๅ€™็พคใงใฏๆ—ฉๆœŸ่จบๆ–ญใ€ๆ—ฉๆœŸๆฒป็™‚ใŒๆœ›ใพใ—ใ„ใŒใ€็—‡็ŠถใŒๅ…จ่บซใซใ‚ใŸใ‚‹ใŸใ‚่จบ็™‚ๅ„็ง‘ใ‚’ๅ›žใ‚Š่จบๆ–ญใŒ้…ใ‚Œใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ - 2200828 - + + 25 + Gorlin็—‡ๅ€™็พค๏ผˆใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค๏ผ‰ใฏ1960ๅนดGorlin RJใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็™บ้”ไธŠใฎๅฅ‡ๅฝขใจ้บไผๆ€ง้ซ˜็™บ็™Œๆ€งใ‚’ไฝตใ›ๆŒใค็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅˆฅๅๆฏๆ–‘ๅŸบๅบ•็ดฐ่ƒž็™Œ็—‡ๅ€™็พคใ€ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พคใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็™บ้”ไธŠใฎๅฅ‡ๅฝขใซใฏๆ‰‹ๆŽŒใƒป่ถณๅบ•็šฎ่†šๅฐ้™ฅๅ‡นใ€ไบŒๅˆ†่‚‹้ชจใชใ„ใ—็™’ๅˆ่‚‹้ชจใ€ๆคŽ้ชจ็•ฐๅธธใ€้กŽ้ชจๅšข่ƒžใ€ๅคง่„ณ้ŽŒ็Ÿณ็ฐๅŒ–ใŒใ‚ใ‚Šใ€็™บ็™ŒใซใฏๅŸบๅบ•็ดฐ่ƒž็™Œใ€้ซ„่Šฝ่…ซใ€ๅตๅทฃ่…ซ็˜ใฎ็™บ็”Ÿ ใŒใ‚ˆใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸGorlin็—‡ๅ€™็พคใงใฏๆ—ฉๆœŸ่จบๆ–ญใ€ๆ—ฉๆœŸๆฒป็™‚ใŒๆœ›ใพใ—ใ„ใŒใ€็—‡็ŠถใŒๅ…จ่บซใซใ‚ใŸใ‚‹ใŸใ‚่จบ็™‚ๅ„็ง‘ใ‚’ๅ›žใ‚Š่จบๆ–ญใŒ้…ใ‚Œใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ + NANDO:2200828 + Gorlin syndrome + ใ”ใƒผใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค - + Gorlin็—‡ๅ€™็พค basal cell nevus syndrome ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พค ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค - - 28 - ไธญๆžข็ฅž็ตŒ็ณปใฎ่ก€็ฎก่Šฝ่…ซใ€็ถฒ่†œ่ก€็ฎก่…ซใ€่…Ž็ดฐ่ƒžใ‚ฌใƒณใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€่†ต็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎๅคš็™บ่…ซ็˜ๆ€ง็–พๆ‚ฃใ€‚่…ซ็˜ใฏๅคš็™บๆ€งใƒปๅ†็™บๆ€งใงใ€ๅคš่ก€็—‡ใ€้ซ˜่ก€ๅœงใซๅŠ ใˆใฆใ€่ฆ–ๅŠ›้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่†€่ƒฑ็›ด่…ธ้šœๅฎณใ€่…Žไธๅ…จใ€ไธๅฆŠ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่…Ž็ดฐ่ƒžใ‚ฌใƒณใฎไธ€้ƒจใฏไป–่‡“ๅ™จ่ปข็งปใ—ๆญปไบกๅŽŸๅ› ใจใชใ‚‹ใ€‚ - 2200829 - + + 28 + ไธญๆžข็ฅž็ตŒ็ณปใฎ่ก€็ฎก่Šฝ่…ซใ€็ถฒ่†œ่ก€็ฎก่…ซใ€่…Ž็ดฐ่ƒžใ‚ฌใƒณใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€่†ต็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎๅคš็™บ่…ซ็˜ๆ€ง็–พๆ‚ฃใ€‚่…ซ็˜ใฏๅคš็™บๆ€งใƒปๅ†็™บๆ€งใงใ€ๅคš่ก€็—‡ใ€้ซ˜่ก€ๅœงใซๅŠ ใˆใฆใ€่ฆ–ๅŠ›้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่†€่ƒฑ็›ด่…ธ้šœๅฎณใ€่…Žไธๅ…จใ€ไธๅฆŠ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่…Ž็ดฐ่ƒžใ‚ฌใƒณใฎไธ€้ƒจใฏไป–่‡“ๅ™จ่ปข็งปใ—ๆญปไบกๅŽŸๅ› ใจใชใ‚‹ใ€‚ + NANDO:2200829 + von Hippel-Lindau disease + ใตใ‰ใ‚“ใฒใฃใบใ‚‹ใƒปใ‚Šใ‚“ใฉใ†ใณใ‚‡ใ† ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—… - + von Hippel-Lindau็—… ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—… - - 27 - ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€้ ญ่“‹ๅ†…่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘๏ผˆๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใ€็ท‘ๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฎ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใฎใซๅฏพใ—ใ€ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใงใฏ้บไผๆ€งใ‚’็คบใ—ใŸไพ‹ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚็—…ๆ…‹ใฎๅŸบๆœฌใฏ้™่„ˆ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚‹ๅพช็’ฐไธๅ…จใงใ‚ใ‚Šใ€่„ณใ€็šฎ่†šใŠใ‚ˆใณ็œผใฎๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใซใ‚ˆใ‚Š่จบๆ–ญใŒใชใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠไธŠใฎๅ•้กŒ็‚นใฏใ€ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใ€ใŠใ‚ˆใณ่ฆ–ๅŠ›ใƒป่ฆ–้‡Ž้šœๅฎณใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒไธปใงใ‚ใ‚‹ใŒใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ‚‚ๆ‚ฃ่€…ใฎ็ฒพ็ฅž็š„่‹ฆๆ‚ฉใฎๅŽŸๅ› ใซใชใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏ้€ฒ่กŒๆ€งใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ“ใจใŒๅคšใใ€ไบˆๅพŒใซๆœ€ใ‚‚ๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใ€9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซๅญ˜ๅœจใ™ใ‚‹GNAQ้บไผๅญใฎๅ˜ไธ€ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ใ€ใƒขใ‚ถใ‚คใ‚ฏๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‚ˆใ‚Šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็ต„็น”ใ‹ใ‚‰ใฎ่จบๆ–ญใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200830 - + + 27 + ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€้ ญ่“‹ๅ†…่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘๏ผˆๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใ€็ท‘ๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฎ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใฎใซๅฏพใ—ใ€ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใงใฏ้บไผๆ€งใ‚’็คบใ—ใŸไพ‹ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚็—…ๆ…‹ใฎๅŸบๆœฌใฏ้™่„ˆ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚‹ๅพช็’ฐไธๅ…จใงใ‚ใ‚Šใ€่„ณใ€็šฎ่†šใŠใ‚ˆใณ็œผใฎๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใซใ‚ˆใ‚Š่จบๆ–ญใŒใชใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠไธŠใฎๅ•้กŒ็‚นใฏใ€ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใ€ใŠใ‚ˆใณ่ฆ–ๅŠ›ใƒป่ฆ–้‡Ž้šœๅฎณใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒไธปใงใ‚ใ‚‹ใŒใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ‚‚ๆ‚ฃ่€…ใฎ็ฒพ็ฅž็š„่‹ฆๆ‚ฉใฎๅŽŸๅ› ใซใชใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏ้€ฒ่กŒๆ€งใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ“ใจใŒๅคšใใ€ไบˆๅพŒใซๆœ€ใ‚‚ๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใ€9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซๅญ˜ๅœจใ™ใ‚‹GNAQ้บไผๅญใฎๅ˜ไธ€ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ใ€ใƒขใ‚ถใ‚คใ‚ฏๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‚ˆใ‚Šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็ต„็น”ใ‹ใ‚‰ใฎ่จบๆ–ญใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200830 + Sturge-Weber syndrome + ใ™ใŸใƒผใ˜ใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค + - - + Sturge-Weber็—‡ๅ€™็พค ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค - - 56 - 1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚จใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅ…†ๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200831 - + + 56 + 1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚จใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅ…†ๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200831 + Werner syndrome + ใ†ใ‡ใ‚‹ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค + - - + Werner็—‡ๅ€™็พค ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค - - 57 - DNAไฟฎๅพฉ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒใŒ้šœๅฎณใ•ใ‚Œ้€ฒ่กŒๆ€งใซ้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่…Žไธๅ…จใ€้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้€ฒ่กŒใซใ‚ˆใ‚Š้‡ๅบฆใฎ่บซไฝ“้šœๅฎณใ‚’ๆฅใŸใ—ใ€10๏ฝž20ๆญณไปฃใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 2200832 - + + 57 + DNAไฟฎๅพฉ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒใŒ้šœๅฎณใ•ใ‚Œ้€ฒ่กŒๆ€งใซ้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่…Žไธๅ…จใ€้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้€ฒ่กŒใซใ‚ˆใ‚Š้‡ๅบฆใฎ่บซไฝ“้šœๅฎณใ‚’ๆฅใŸใ—ใ€10๏ฝž20ๆญณไปฃใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2200832 + Cockayne syndrome + ใ“ใ‘ใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค - + - + Cockayne็—‡ๅ€™็พค ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค - - 58 - ็”ŸๅพŒๅŠๅนด๏ฝž2ๅนดใ‚ˆใ‚Šๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽใ€ๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ ่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ13ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200833 - + + 58 + ็”ŸๅพŒๅŠๅนด๏ฝž2ๅนดใ‚ˆใ‚Šๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽใ€ๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ ่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ13ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200833 + Hutchinson-Gilford syndrome + ใฏใฃใกใ‚“ใใ‚“ใƒปใŽใ‚‹ใตใ‰ใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค + - + HGPS Hutchinson-Gilford progeria syndrome ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค - - 3 - ใ‚ซใƒŠใƒใƒณ็—…ใฏaspartoacylase(ASPA)ใฎๆฌ ๆใซใ‚ˆใ‚‹N-acetyl-aspartate(NAA)ใฎ่“„็ฉใŒใ€้€ฒ ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ1ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฏ10ๅนดไปฅๅ†…ใซๆญปไบกใ—ใ€่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚ - 2200834 - + + 3 + ใ‚ซใƒŠใƒใƒณ็—…ใฏaspartoacylase(ASPA)ใฎๆฌ ๆใซใ‚ˆใ‚‹N-acetyl-aspartate(NAA)ใฎ่“„็ฉใŒใ€้€ฒ ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ1ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฏ10ๅนดไปฅๅ†…ใซๆญปไบกใ—ใ€่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚ + NANDO:2200834 + Canavan disease + ใ‹ใชใฐใ‚“ใณใ‚‡ใ† ใ‚ซใƒŠใƒใƒณ็—… + - + - + Canavan็—… ใ‚ซใƒŠใƒใƒณ็—… - - 2 - ็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ(GFAP)ใ€ฮฑB-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑ ใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ๆ˜Ÿ็Šถ่† ็ดฐ่ƒžใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ๅธŒใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็Šถใ€MRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹(1ๅž‹)ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹(2ๅž‹)ใ€ไธญ้–“ๅž‹(3ๅž‹)ใซๅˆ†้กžใงใใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใงGFAP้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆไธปๆตใซใชใฃใฆใ„ใ‚‹ใ€‚1ๅž‹ใงใฏR79ใ€R88ใ€R239ใŒGFAP้บไผๅญๅค‰็•ฐใฎ็ด„75๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใŒใ€2ๅž‹ใงใฏ็‰นใซ้ ปๅบฆใฎ้ซ˜ใ„ๅค‰็•ฐใฏ่ชใ‚ใชใ„ใ€‚็—…ๆ…‹ใฏใพใ ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใ‚‚ใชใใ€้•ทๆœŸใซใ‚ใŸใ‚‹็™‚้คŠ็”Ÿๆดปใ‚’ๅฟ…่ฆใจใ™ใ‚‹้›ฃๆฒปๆ€ง็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200835 - + + 2 + ็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ(GFAP)ใ€ฮฑB-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑ ใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ๆ˜Ÿ็Šถ่† ็ดฐ่ƒžใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ๅธŒใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็Šถใ€MRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹(1ๅž‹)ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹(2ๅž‹)ใ€ไธญ้–“ๅž‹(3ๅž‹)ใซๅˆ†้กžใงใใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใงGFAP้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆไธปๆตใซใชใฃใฆใ„ใ‚‹ใ€‚1ๅž‹ใงใฏR79ใ€R88ใ€R239ใŒGFAP้บไผๅญๅค‰็•ฐใฎ็ด„75๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใŒใ€2ๅž‹ใงใฏ็‰นใซ้ ปๅบฆใฎ้ซ˜ใ„ๅค‰็•ฐใฏ่ชใ‚ใชใ„ใ€‚็—…ๆ…‹ใฏใพใ ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใ‚‚ใชใใ€้•ทๆœŸใซใ‚ใŸใ‚‹็™‚้คŠ็”Ÿๆดปใ‚’ๅฟ…่ฆใจใ™ใ‚‹้›ฃๆฒปๆ€ง็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200835 + Alexander disease + ใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ† ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… + - - + Alexander็—… ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—… - - 4 - ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1;11็–พๆ‚ฃใจๅŽŸๅ› ้บไผๅญ๏ผ‰ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)MCT8ๆฌ ๆ็—‡(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - 2200836 - - congenital hypomyelinating leukodystrophy + + 4 + ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1;11็–พๆ‚ฃใจๅŽŸๅ› ้บไผๅญ๏ผ‰ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)MCT8ๆฌ ๆ็—‡(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… + NANDO:2200836 + + Congenital hypomyelinating leukodystrophy + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ - + - + + ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ - - 6 - ็จ€ใช็™ฝ่ณช่Ž็ธฎ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ1ๆญณใพใงใซๅคง้ ญ็—‡ใ€ๆ•ฐๅนดๅพŒใซๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็—™ๆ€งใŒๅ‡บ็พใ—ใ€้€€่กŒใ—ใฆใ„ใใ€‚้ ญ้ƒจMRIใงใ€ใณใพใ‚“ๆ€งใฎ่…ซ่„นใ€ๅฐ่„ณ็™ฝ่ณชใฎ่…ซ่„นใ€ๅด้ ญ่‘‰ๅ‰้ƒจใ‚„ๅ‰้ ญ้ ญ้ ‚้ƒจใซ็šฎ่ณชไธ‹ๅšข่ƒžใŒใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡็Šถใจ็‰นๅพด็š„ใช้ ญ้ƒจMRIๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใ™ใ‚‹ใ€‚MLC้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC1ใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC2Aใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLCใฎใ†ใก่ปฝ็—‡ใฎMLC2Bใฎ3ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200837 - + + 6 + ็จ€ใช็™ฝ่ณช่Ž็ธฎ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ1ๆญณใพใงใซๅคง้ ญ็—‡ใ€ๆ•ฐๅนดๅพŒใซๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็—™ๆ€งใŒๅ‡บ็พใ—ใ€้€€่กŒใ—ใฆใ„ใใ€‚้ ญ้ƒจMRIใงใ€ใณใพใ‚“ๆ€งใฎ่…ซ่„นใ€ๅฐ่„ณ็™ฝ่ณชใฎ่…ซ่„นใ€ๅด้ ญ่‘‰ๅ‰้ƒจใ‚„ๅ‰้ ญ้ ญ้ ‚้ƒจใซ็šฎ่ณชไธ‹ๅšข่ƒžใŒใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡็Šถใจ็‰นๅพด็š„ใช้ ญ้ƒจMRIๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใ™ใ‚‹ใ€‚MLC้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC1ใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC2Aใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLCใฎใ†ใก่ปฝ็—‡ใฎMLC2Bใฎ3ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200837 + megaloencephalic leukoencephalopathy with subcortical cysts + ใฒใ—ใคใ‹ใฎใ†ใปใ†ใ‚’ใ‚‚ใคใ ใ„ใจใ†ใŒใŸใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ† ็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡ - + - + + ็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡ - - 5 - Vanishing white matter disease๏ผˆไปฅไธ‹ใ€VWM๏ผ‰ใฏใ€ๅฐ่„ณๅคฑ่ชฟใ‚„็—™ๆ€ง้บป็—บใŒ็ทฉๅพใซ้€ฒ่กŒใ—ใ€ๆ„ŸๆŸ“ใ‚„้ ญ้ƒจๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใซ็—‡็ŠถใŒๆ€ฅๆ€งๅข—ๆ‚ชใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใ€ๅคง่„ณ็™ฝ่ณชๅ…จไฝ“ใ‚ใ‚‹ใ„ใฏใใฎไธ€้ƒจใŒใ€่„ณ่„Š้ซ„ๆถฒใจใปใผๅŒใ˜ไฟกๅทๅผทๅบฆใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚Childhood ataxia with central nervous system hypomyelination (CACH)ใจใ‚‚ๅ‘ผใฐใ‚Œใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใ€ๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200838 - + + 5 + Vanishing white matter disease๏ผˆไปฅไธ‹ใ€VWM๏ผ‰ใฏใ€ๅฐ่„ณๅคฑ่ชฟใ‚„็—™ๆ€ง้บป็—บใŒ็ทฉๅพใซ้€ฒ่กŒใ—ใ€ๆ„ŸๆŸ“ใ‚„้ ญ้ƒจๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใซ็—‡็ŠถใŒๆ€ฅๆ€งๅข—ๆ‚ชใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใ€ๅคง่„ณ็™ฝ่ณชๅ…จไฝ“ใ‚ใ‚‹ใ„ใฏใใฎไธ€้ƒจใŒใ€่„ณ่„Š้ซ„ๆถฒใจใปใผๅŒใ˜ไฟกๅทๅผทๅบฆใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚Childhood ataxia with central nervous system hypomyelination (CACH)ใจใ‚‚ๅ‘ผใฐใ‚Œใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใ€ๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200838 + vanishing white matter disease + ใฏใใ—ใคใ—ใ‚‡ใ†ใ—ใคใณใ‚‡ใ† ็™ฝ่ณชๆถˆๅคฑ็—… + - + ็™ฝ่ณชๆถˆๅคฑ็—… - - 8 - ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พค(X-linked ฮฑ-thalassemia/intellectual disability syndrome;ใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธ€ใคใงใ™ใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข(HbH็—…)ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ™ใ€‚ATRX้บไผๅญใŒใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ‚ฟใƒณใƒ‘ใ‚ฏATRXใฏใ‚ฏใƒญใƒžใƒใƒณใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐๅ› ๅญใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚ATRX้บไผๅญใฎๅค‰ๅŒ–ใซใ‚ˆใ‚Šใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚ฃใ‚ฏใ‚นๅˆถๅพกๆฉŸๆง‹ใฎ็ ด็ถปใŒ่ตทใ“ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญใฎ็™บ็พ็•ฐๅธธใฎใŸใ‚ใ€ๅคšๆง˜ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚่ฟ‘ๅนดใ€ATRXใ‚ฟใƒณใƒ‘ใ‚ฏใŒใ€ใ‚ฒใƒŽใƒ ใฎ็‰นๅˆฅใชๆง‹้€ ๏ผˆG-quadruplex: G4ใ€ใ‚ฐใ‚ขใƒ‹ใƒณๅ››้‡้Ž–๏ผ‰ใซ็ตๅˆใ—ใ€่ฟ‘ๅ‚ใฎ้บไผๅญใฎ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใพใ—ใŸใ€‚็พๅœจใ€ใ“ใฎใƒกใ‚ซใƒ‹ใ‚บใƒ ใ‚’ๅˆฉ็”จใ—ใŸๆฒป็™‚่–ฌใฎ้–‹็™บใŒๆŽข็ดขใ•ใ‚Œใฆใ„ใพใ™ใ€‚ - 2200839 - + + 8 + ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พค(X-linked ฮฑ-thalassemia/intellectual disability syndrome;ใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธ€ใคใงใ™ใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข(HbH็—…)ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ™ใ€‚ATRX้บไผๅญใŒใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ‚ฟใƒณใƒ‘ใ‚ฏATRXใฏใ‚ฏใƒญใƒžใƒใƒณใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐๅ› ๅญใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚ATRX้บไผๅญใฎๅค‰ๅŒ–ใซใ‚ˆใ‚Šใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚ฃใ‚ฏใ‚นๅˆถๅพกๆฉŸๆง‹ใฎ็ ด็ถปใŒ่ตทใ“ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญใฎ็™บ็พ็•ฐๅธธใฎใŸใ‚ใ€ๅคšๆง˜ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚่ฟ‘ๅนดใ€ATRXใ‚ฟใƒณใƒ‘ใ‚ฏใŒใ€ใ‚ฒใƒŽใƒ ใฎ็‰นๅˆฅใชๆง‹้€ ๏ผˆG-quadruplex: G4ใ€ใ‚ฐใ‚ขใƒ‹ใƒณๅ››้‡้Ž–๏ผ‰ใซ็ตๅˆใ—ใ€่ฟ‘ๅ‚ใฎ้บไผๅญใฎ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใพใ—ใŸใ€‚็พๅœจใ€ใ“ใฎใƒกใ‚ซใƒ‹ใ‚บใƒ ใ‚’ๅˆฉ็”จใ—ใŸๆฒป็™‚่–ฌใฎ้–‹็™บใŒๆŽข็ดขใ•ใ‚Œใฆใ„ใพใ™ใ€‚ + NANDO:2200839 + ATR-X syndrome ATR-X็—‡ๅ€™็พค + ใˆใƒผใฆใƒใƒผใ‚ใƒผใ‚‹ใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - - X-linked a-thalassemia/intellectual disability syndrome + ATR-X็—‡ๅ€™็พค - - 35 - X ๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎ FMR1 ้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50 ใ‹ใ‚‰ 200 ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑ X ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ 200 ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑ X ็—‡ๅ€™็พคใจใชใ‚‹ใ€‚ - 2200840 - + + 35 + X ๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎ FMR1 ้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50 ใ‹ใ‚‰ 200 ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑ X ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ 200 ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑ X ็—‡ๅ€™็พคใจใชใ‚‹ใ€‚ + NANDO:2200840 + Fragile X syndrome + ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่„†ๅผฑ๏ผธ็—‡ๅ€™็พค + - - + ่„†ๅผฑ๏ผธ็—‡ๅ€™็พค - - 45 - ็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็จฎใ€…ใฎGPIใ‚ขใƒณใ‚ซใƒผๅž‹ใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใฏๅฐ่ƒžไฝ“ใงใ‚ฟใƒณใƒ‘ใ‚ฏ่ณช้ƒจๅˆ†ใจGPI ใ‚ขใƒณใ‚ซใƒผใŒๅˆฅใ€…ใซๅˆๆˆใ•ใ‚Œใฆ็ตๅˆใ—ใ€ๅฐ่ƒžไฝ“ใ‚„ใ‚ดใƒซใ‚ธไฝ“ใงไฟฎ้ฃพใ•ใ‚Œใฆใ€็ดฐ่ƒž่†œ่กจ้ขใซ่ผธ้€ใ•ใ‚Œใ‚‹ใŒใ€ๅ…ˆๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ“ใฎ้Ž็จ‹ใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใฎใŒใ€ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡ (IGD)ใงใ‚ใ‚‹ใ€‚ใ€€IGDใงใฏใ€็Ÿฅ็š„้šœๅฎณใŒๅฟ…็™บใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„้ก”่ฒŒใƒปๆถˆๅŒ–็ฎกใƒป่…Žๅฐฟ่ทฏ็ณปใƒปๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใชใฉใฎๅฝขๆ…‹็•ฐๅธธใ€้›ฃ่ดใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้‡ๅบฆๅฟƒ่บซ้šœๅฎณๅ…ใƒป่€…ใจใชใ‚‹ใ€‚่จบๆ–ญใซใฏใ€้ก†็ฒ’็ƒใฎใƒ•ใƒญใƒผใ‚ตใ‚คใƒˆใƒกใƒˆใƒชใƒผใ€้บไผๅญๆคœๆŸปใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200841 - - Inherited GPI deficiency + + 45 + ็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็จฎใ€…ใฎGPIใ‚ขใƒณใ‚ซใƒผๅž‹ใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใฏๅฐ่ƒžไฝ“ใงใ‚ฟใƒณใƒ‘ใ‚ฏ่ณช้ƒจๅˆ†ใจGPI ใ‚ขใƒณใ‚ซใƒผใŒๅˆฅใ€…ใซๅˆๆˆใ•ใ‚Œใฆ็ตๅˆใ—ใ€ๅฐ่ƒžไฝ“ใ‚„ใ‚ดใƒซใ‚ธไฝ“ใงไฟฎ้ฃพใ•ใ‚Œใฆใ€็ดฐ่ƒž่†œ่กจ้ขใซ่ผธ้€ใ•ใ‚Œใ‚‹ใŒใ€ๅ…ˆๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ“ใฎ้Ž็จ‹ใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใฎใŒใ€ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡ (IGD)ใงใ‚ใ‚‹ใ€‚ใ€€IGDใงใฏใ€็Ÿฅ็š„้šœๅฎณใŒๅฟ…็™บใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„้ก”่ฒŒใƒปๆถˆๅŒ–็ฎกใƒป่…Žๅฐฟ่ทฏ็ณปใƒปๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใชใฉใฎๅฝขๆ…‹็•ฐๅธธใ€้›ฃ่ดใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้‡ๅบฆๅฟƒ่บซ้šœๅฎณๅ…ใƒป่€…ใจใชใ‚‹ใ€‚่จบๆ–ญใซใฏใ€้ก†็ฒ’็ƒใฎใƒ•ใƒญใƒผใ‚ตใ‚คใƒˆใƒกใƒˆใƒชใƒผใ€้บไผๅญๆคœๆŸปใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200841 + + Inherited glycosylphosphatidylinositol deficiency + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡ + - - GPIๆฌ ๆ็—‡ + IGD + ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡ + ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡ - - 65 - ่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค(cerebral creatine deficiency syndromes: CCDSs)ใฏใ€่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใซใ‚ˆใ‚Šใ€็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ/ใƒชใƒณ้…ธใ‚ฏใƒฌใ‚ขใƒใƒณ็ณปใฏ๏ผŒ่„ณใ‚„็ญ‹ใซใŠใ‘ใ‚‹ๅŒ–ๅญฆ็š„ใ‚จใƒใƒซใ‚ฎใƒผใฎ็ดฐ่ƒž่ณช่ฒฏ่”ตใฎ็ทฉ่ก็ณปใจใ—ใฆๅƒใ„ใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใ‚„่ผธ้€ใฎ้šœๅฎณใฏ่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใ‚’ใใŸใ—ใ€็Ÿฅ็š„้šœๅฎณใ€่จ€่ชž็™บ้”้…ๆปžใ€ใฆใ‚“ใ‹ใ‚“ใ‚’ๅผ•ใ่ตทใ“ใ™ใจใ€่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปข็งป้…ต็ด (GAMT)ๆฌ ๆ็—‡ใจใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆAGAT๏ผ‰ๆฌ ๆ็—‡ใฎ2็–พๆ‚ฃใ€ ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ไฝ“๏ผˆSLC6A8๏ผ‰ๆฌ ๆ็—‡ใฎ3็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚SLC6A8ๆฌ ๆ็—‡ใฏ้บไผๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธญใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใพใ™ใ€‚ใพใŸใ€GAMTๆฌ ๆ็—‡ใจAGATๆฌ ๆ็—‡ใฏใ€ใ‚ฏใƒฌใ‚ขใƒใƒณใฎ็ตŒๅฃๆŠ•ไธŽใŒๆœ‰ๅŠนใชใ€ๆฒป็™‚ๆ–นๆณ•ใฎใ‚ใ‚‹็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ใใฎๆ—ฉๆœŸ่จบๆ–ญใฏ้‡่ฆใงใ™ใ€‚ - 2200842 - + + 65 + ่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค(cerebral creatine deficiency syndromes: CCDSs)ใฏใ€่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใซใ‚ˆใ‚Šใ€็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ/ใƒชใƒณ้…ธใ‚ฏใƒฌใ‚ขใƒใƒณ็ณปใฏ๏ผŒ่„ณใ‚„็ญ‹ใซใŠใ‘ใ‚‹ๅŒ–ๅญฆ็š„ใ‚จใƒใƒซใ‚ฎใƒผใฎ็ดฐ่ƒž่ณช่ฒฏ่”ตใฎ็ทฉ่ก็ณปใจใ—ใฆๅƒใ„ใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใ‚„่ผธ้€ใฎ้šœๅฎณใฏ่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใ‚’ใใŸใ—ใ€็Ÿฅ็š„้šœๅฎณใ€่จ€่ชž็™บ้”้…ๆปžใ€ใฆใ‚“ใ‹ใ‚“ใ‚’ๅผ•ใ่ตทใ“ใ™ใจใ€่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปข็งป้…ต็ด (GAMT)ๆฌ ๆ็—‡ใจใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆAGAT๏ผ‰ๆฌ ๆ็—‡ใฎ2็–พๆ‚ฃใ€ ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ไฝ“๏ผˆSLC6A8๏ผ‰ๆฌ ๆ็—‡ใฎ3็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚SLC6A8ๆฌ ๆ็—‡ใฏ้บไผๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธญใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใพใ™ใ€‚ใพใŸใ€GAMTๆฌ ๆ็—‡ใจAGATๆฌ ๆ็—‡ใฏใ€ใ‚ฏใƒฌใ‚ขใƒใƒณใฎ็ตŒๅฃๆŠ•ไธŽใŒๆœ‰ๅŠนใชใ€ๆฒป็™‚ๆ–นๆณ•ใฎใ‚ใ‚‹็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ใใฎๆ—ฉๆœŸ่จบๆ–ญใฏ้‡่ฆใงใ™ใ€‚ + NANDO:2200842 + Cerebral creatine deficiency syndrome + ใฎใ†ใใ‚Œใ‚ใกใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค - + ่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค - - 33 - ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ็จ€ใซ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ‚ˆใ‚‹็‰นๆœ‰ใฎ้ ญ่“‹้ก”้ขใฎๅค‰ๅฝขใ‚’ๆฅใŸใ—ใ€ไป–ใฎ้ก”้ขใƒปๆŒ‡่ถพใƒปๅ››่‚ขใƒปๅ…จ่บซใฎ็•ฐๅธธใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ‚ˆใถใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ…จไฝ“ใฎ็ด„85%ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ้ƒจไฝใซๅฟœใ˜ใŸไปฃๅ„Ÿๆ€ง้ ญ่“‹้ชจๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅŽŸๅ› ใฏใปใจใ‚“ใฉใฎๅ ดๅˆไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใซใชใ‚Šไธ€้ƒจใฎ็—‡ไพ‹ใง้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใŒ็ณป็ตฑใ ใฃใŸ่งฃๆžใฏไปŠๅพŒใฎ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่ฆ‹่งฃใจ็•ฐใชใ‚Šใ€้ซ˜ๆฌก่„ณๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ“ใจใŒ่ฟ‘ๅนดๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใใฆใ„ใ‚‹ใ€‚ - 2200843 - + + 33 + ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ็จ€ใซ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ‚ˆใ‚‹็‰นๆœ‰ใฎ้ ญ่“‹้ก”้ขใฎๅค‰ๅฝขใ‚’ๆฅใŸใ—ใ€ไป–ใฎ้ก”้ขใƒปๆŒ‡่ถพใƒปๅ››่‚ขใƒปๅ…จ่บซใฎ็•ฐๅธธใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ‚ˆใถใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ…จไฝ“ใฎ็ด„85%ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ้ƒจไฝใซๅฟœใ˜ใŸไปฃๅ„Ÿๆ€ง้ ญ่“‹้ชจๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅŽŸๅ› ใฏใปใจใ‚“ใฉใฎๅ ดๅˆไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใซใชใ‚Šไธ€้ƒจใฎ็—‡ไพ‹ใง้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใŒ็ณป็ตฑใ ใฃใŸ่งฃๆžใฏไปŠๅพŒใฎ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่ฆ‹่งฃใจ็•ฐใชใ‚Šใ€้ซ˜ๆฌก่„ณๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ“ใจใŒ่ฟ‘ๅนดๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใใฆใ„ใ‚‹ใ€‚ + NANDO:2200843 + Non-syndromic craniosynostosis + ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ† ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ - + + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ - - 31 - ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽApert็—‡ๅ€™็พคใฏๅฐ–้ ญๅˆๆŒ‡็—‡(acrocephalosyndactyly) type๏ผ‘ใซๅˆ†้กžใ•ใ‚Œใ‚‹็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅฝขๆ…‹ใƒป้ก”่ฒŒใƒป่„ณๅฝขๆˆ็•ฐๅธธใฎใฟใชใ‚‰ใšใ€ๅฟƒ่‡“ใƒปๆถˆๅŒ–ๅ™จใƒป้ชจ็›ค่‡“ๅ™จใซใ‚‚็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅคšใใฏๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2 exson7ใฎๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚ - 2200844 - + + 31 + ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽApert็—‡ๅ€™็พคใฏๅฐ–้ ญๅˆๆŒ‡็—‡(acrocephalosyndactyly) type๏ผ‘ใซๅˆ†้กžใ•ใ‚Œใ‚‹็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅฝขๆ…‹ใƒป้ก”่ฒŒใƒป่„ณๅฝขๆˆ็•ฐๅธธใฎใฟใชใ‚‰ใšใ€ๅฟƒ่‡“ใƒปๆถˆๅŒ–ๅ™จใƒป้ชจ็›ค่‡“ๅ™จใซใ‚‚็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅคšใใฏๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2 exson7ใฎๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200844 + Apert syndrome - ใ‚ขใƒšใƒผใƒซ ็—‡ๅ€™็พค + ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค + - + Apert็—‡ๅ€™็พค - - ใ‚ขใƒšใƒผใƒซ ็—‡ๅ€™็พค - - - 32 - ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚Crouzon็—…ใฏ็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€ๅˆๆŒ‡ใƒป่ถพ็—‡ใฏไผดใ‚ใชใ„๏ผŽ้ ญ่“‹ๅ†…ๅœงไบข้€ฒใƒป้ ญ่“‹ๅค‰ๅฝขใƒป็œผ็ƒ็ชๅ‡บใซๅŠ ใˆไธŠๆฐ—้“็‹ญ็ช„ใƒปไธญ้ก”้ขไฝŽๅฝขๆˆ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็™บ็—‡ๅฝขๆ…‹ๆง˜ๅผใฎๅ€‹ไบบๅทฎใŒๆฅตใ‚ใฆๅคงใใ„ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ“ใจ ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2ๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚ - 2200845 - + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค + + + 32 + ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚Crouzon็—…ใฏ็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€ๅˆๆŒ‡ใƒป่ถพ็—‡ใฏไผดใ‚ใชใ„๏ผŽ้ ญ่“‹ๅ†…ๅœงไบข้€ฒใƒป้ ญ่“‹ๅค‰ๅฝขใƒป็œผ็ƒ็ชๅ‡บใซๅŠ ใˆไธŠๆฐ—้“็‹ญ็ช„ใƒปไธญ้ก”้ขไฝŽๅฝขๆˆ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็™บ็—‡ๅฝขๆ…‹ๆง˜ๅผใฎๅ€‹ไบบๅทฎใŒๆฅตใ‚ใฆๅคงใใ„ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ“ใจ ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2ๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200845 + Crouzon disease + ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ† ใ‚ฏใƒซใƒผใ‚พใƒณ็—… - + Crouzon็—… ใ‚ฏใƒซใƒผใ‚พใƒณ็—… - - 34 - ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ - 2200846 - + + 34 + ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ + NANDO:2200846 + + 30ใ‹ใ‚‰32ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚…ใ†ใฉใฎใšใŒใ„ใ“ใคใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ† 30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ Other craniosynostosis - + 30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ - - 34 - 2200847 - + + 34 + NANDO:2200847 + Carpenter syndrome Carpenter็—‡ๅ€™็พค - + ใ‹ใƒผใบใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + ใ‚ซใƒผใƒšใƒณใ‚ฟใƒผ็—‡ๅ€™็พค - Carpenter็—‡ๅ€™็พค - - 34 - 2200848 - + + 34 + NANDO:2200848 + Saethre-Chotzen syndrome Seather-Chotzen็—‡ๅ€™็พค + ใ›ใƒผใจใ‚Œใฒใ‚‡ใคใ‡ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + ใ‚ผใƒผใƒ„ใƒฌโ€ใ‚ณใƒƒใƒ„ใ‚งใƒณ็—‡ๅ€™็พค Seather-Chotzen็—‡ๅ€™็พค - - 34 - 2200849 - + + 34 + NANDO:2200849 + + unclassifiable multiple suture craniosynostosis + ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใฎใŸใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ† ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ - - - - 79 - ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚ - 2200850 - - moyamoya disease + + ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ + + + 79 + ใ‚‚ใ‚„ใ‚‚ใ‚„็—…(ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡)ใฏๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€ไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—ใ€5ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซใฏ่„ณ่ก€็ฎก้–‰ๅกž๏ผˆ่„ณ่™š่ก€๏ผ‰ใฎ็—‡็ŠถใŒๅคšใใ€ๆˆไบบๆœŸใซใฏ่„ณๅ‡บ่ก€ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคšใ„ใ€‚ + NANDO:2200850 + + Moyamoya disease + ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ† ใ‚‚ใ‚„ใ‚‚ใ‚„็—… - - + - - + - ใ‚‚ใ‚„ใ‚‚ใ‚„็—… - - 73 - ๅคงๅฐๆง˜ใ€…ใช็•ฐๅธธๅ‹•้™่„ˆ้–“ใซ็›ดๆŽฅๅปๅˆใŒใ‚ใ‚Šใ€็•ฐๅธธใช่ก€็ฎกๅกŠ๏ผˆใƒŠใ‚คใƒ€ใ‚น๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๆฏ›็ดฐ่ก€็ฎกใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€ๅ‹•่„ˆ่ก€ใฏ็›ดๆŽฅ้™่„ˆ็ณปใซ็งป่กŒใ™ใ‚‹ใ€‚ - 2200851 - + + 73 + ๅคงๅฐๆง˜ใ€…ใช็•ฐๅธธๅ‹•้™่„ˆ้–“ใซ็›ดๆŽฅๅปๅˆใŒใ‚ใ‚Šใ€็•ฐๅธธใช่ก€็ฎกๅกŠ๏ผˆใƒŠใ‚คใƒ€ใ‚น๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๆฏ›็ดฐ่ก€็ฎกใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€ๅ‹•่„ˆ่ก€ใฏ็›ดๆŽฅ้™่„ˆ็ณปใซ็งป่กŒใ™ใ‚‹ใ€‚ + NANDO:2200851 + Cerebral arteriovenous malformation + ใฎใ†ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„ ่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข - + Cerebral AVM ่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข - - 9 - ็•ฐๅธธใซๆ‹กๅผตใ—ใŸๆดžๆง˜่ก€็ฎกใŒ้™ๅฑ€็š„ใซๅฏ†ใซ้›†ๅˆใ—ใ€ใใฎใŸใ‚ๅ„่ก€็ฎกใฎ้–“ใซๆญฃๅธธ่„ณ็ต„็น”ใŒใฟใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€ง่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ - 2200852 - + + 9 + ็•ฐๅธธใซๆ‹กๅผตใ—ใŸๆดžๆง˜่ก€็ฎกใŒ้™ๅฑ€็š„ใซๅฏ†ใซ้›†ๅˆใ—ใ€ใใฎใŸใ‚ๅ„่ก€็ฎกใฎ้–“ใซๆญฃๅธธ่„ณ็ต„็น”ใŒใฟใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€ง่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ + NANDO:2200852 + Cavernous angioma of the brain and spinal cord + ใ‹ใ„ใ‚ใ‚“ใ˜ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚…๏ผˆใฎใ†ใ›ใใšใ„๏ผ‰ ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰ - + + ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰ - - 40 - ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡(SMA)ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹(OMIM#253300)ใ€IIๅž‹(OMIM#253550)ใ€IIIๅž‹(OMIM#253400)ใ€IVๅž‹(OMIM#27115)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95%ใซSMN้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ1๏ผ2ๅ‰ฒใซใŠใ„ใฆSMN๏ผˆsurvival motor neuron๏ผ‰้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚ - 2200853 - + + 40 + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡(SMA)ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹(OMIM#253300)ใ€IIๅž‹(OMIM#253550)ใ€IIIๅž‹(OMIM#253400)ใ€IVๅž‹(OMIM#27115)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95%ใซSMN้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ1๏ผ2ๅ‰ฒใซใŠใ„ใฆSMN๏ผˆsurvival motor neuron๏ผ‰้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:2200853 + spinal muscular atrophy + ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ† ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ - + - + ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ - - 47 - ๅ…ˆๅคฉๆ€ง็„ก็—›็—‡ใฏ้บไผๆ€งๆ„Ÿ่ฆšใƒป่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ(HSAN)ใซๅฑžใ™ใ‚‹็–พๆ‚ฃใงใ€ใ“ใฎใ†ใก4ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡๏ผšCongenital Insensitivity to Pain with Anhidrosis๏ผšCIPA๏ผ‰ใจ5ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็—‡๏ผšCongenital Insensitivity to Pain๏ผšCIP๏ผ‰ใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚CIPAใงใฏๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’ๅˆไฝตใ—ใ€็จฎใ€…ใฎ็จ‹ๅบฆใฎ็Ÿฅ่ƒฝไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200854 - - congenital insensitIVity to pain with anhidrosis + + 47 + ๅ…ˆๅคฉๆ€ง็„ก็—›็—‡ใฏ้บไผๆ€งๆ„Ÿ่ฆšใƒป่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ(HSAN)ใซๅฑžใ™ใ‚‹็–พๆ‚ฃใงใ€ใ“ใฎใ†ใก4ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡๏ผšCongenital Insensitivity to Pain with Anhidrosis๏ผšCIPA๏ผ‰ใจ5ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็—‡๏ผšCongenital Insensitivity to Pain๏ผšCIP๏ผ‰ใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚CIPAใงใฏๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’ๅˆไฝตใ—ใ€็จฎใ€…ใฎ็จ‹ๅบฆใฎ็Ÿฅ่ƒฝไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200854 + + Congenital Insensitivity to Pain with Anhidrosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใคใ†ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ + - - + ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ - - 46 - ๆœซๆขข็ฅž็ตŒใŒ้บไผ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจใ‚ˆใถใ€‚ๆœซๆขข็ฅž็ตŒใฏ้‹ๅ‹•็ฅž็ตŒใ€ๆ„Ÿ่ฆš็ฅž็ตŒใ€่‡ชๅพ‹็ฅž็ตŒใซๅคงๅˆฅใ•ใ‚Œใ€ใพใŸๆง‹้€ ไธŠ่ปธ็ดขใจ้ซ„้ž˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ“ใ‚Œใ‚‰ๆœซๆขข็ฅž็ตŒๆง‹ๆˆๆˆๅˆ†ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็”Ÿใ˜ใฆใŠใ‚Šใ€้›ปๆฐ—็”Ÿ็†ๆคœๆŸปใŠใ‚ˆใณ้บไผๅญฆ็š„ๆคœๆŸปใซใ‚ˆใฃใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ - 2200855 - + + 46 + ๆœซๆขข็ฅž็ตŒใŒ้บไผ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจใ‚ˆใถใ€‚ๆœซๆขข็ฅž็ตŒใฏ้‹ๅ‹•็ฅž็ตŒใ€ๆ„Ÿ่ฆš็ฅž็ตŒใ€่‡ชๅพ‹็ฅž็ตŒใซๅคงๅˆฅใ•ใ‚Œใ€ใพใŸๆง‹้€ ไธŠ่ปธ็ดขใจ้ซ„้ž˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ“ใ‚Œใ‚‰ๆœซๆขข็ฅž็ตŒๆง‹ๆˆๆˆๅˆ†ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็”Ÿใ˜ใฆใŠใ‚Šใ€้›ปๆฐ—็”Ÿ็†ๆคœๆŸปใŠใ‚ˆใณ้บไผๅญฆ็š„ๆคœๆŸปใซใ‚ˆใฃใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ + NANDO:2200855 + Hereditary Motor and Sensory Neuropathy + ใ„ใงใ‚“ใ›ใ„ใ†ใ‚“ใฉใ†ใ‹ใ‚“ใ‹ใใซใ‚…ใƒผใ‚ใฑใกใƒผ ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - + Charcot-Marie-Tooth disease - - ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ - - 14 - ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅฐๅ…ๆœŸ็™บ็—‡ใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200856 - + + 14 + ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅฐๅ…ๆœŸ็™บ็—‡ใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200856 + Duchenne muscular dystrophy + ใงใ‚…ใ—ใ‡ใ‚“ใฌใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - + Duchenneๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 11 - ๅนผๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๆฏ”่ผƒ็š„็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹ใฎใปใ‹ใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‹ใ‚‰่ชใ‚ใ‚‹้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒไผๅฐŽ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200857 - + + 11 + ๅนผๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๆฏ”่ผƒ็š„็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹ใฎใปใ‹ใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‹ใ‚‰่ชใ‚ใ‚‹้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒไผๅฐŽ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200857 + Emery-Dreifuss muscular dystrophy + ใˆใ‚ใ‚Šใƒผใƒปใฉใ‚Œใ„ใตใ™ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + Emery-Dreifussๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 13 - Duchenneๅž‹ใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹ใ€ๅ…ˆๅคฉๅž‹ใซใ‚ใ‚‹ใ‚ˆใ†ใช่‡จๅบŠ่จบๆ–ญ็š„็‰นๅพดใ‚’ๆฌ ใ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซใคใ‘ใ‚‰ใ‚ŒใŸ่‡จๅบŠ่จบๆ–ญๅ - 2200858 - + + 13 + Duchenneๅž‹ใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹ใ€ๅ…ˆๅคฉๅž‹ใซใ‚ใ‚‹ใ‚ˆใ†ใช่‡จๅบŠ่จบๆ–ญ็š„็‰นๅพดใ‚’ๆฌ ใ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซใคใ‘ใ‚‰ใ‚ŒใŸ่‡จๅบŠ่จบๆ–ญๅ + NANDO:2200858 + limb-girdle muscular dystrophy + ใ—ใŸใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + - + ่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 12 - ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’ใจใ‚Šใ€้ก”้ข็ญ‹ใ€่‚ฉ็”ฒใ€ไธŠ่…•่ฟ‘ไฝ้ƒจใฎ็ญ‹ใŒไธปใซ้šœๅฎณใ‚’ใ†ใ‘ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200859 - - facio-scapulohumeral muscular dystrophy + + 12 + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’ใจใ‚Šใ€้ก”้ข็ญ‹ใ€่‚ฉ็”ฒใ€ไธŠ่…•่ฟ‘ไฝ้ƒจใฎ็ญ‹ใŒไธปใซ้šœๅฎณใ‚’ใ†ใ‘ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200859 + + Facioscapulohumeral muscular dystrophy + ใŒใ‚“ใ‚ใ‚“ใ‘ใ‚“ใ“ใ†ใ˜ใ‚‡ใ†ใ‚ใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + - + FSMD + ้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 15 - 1960ๅนดใซ็ฆๅฑฑใ‚‰ใซๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงๆ—ฅๆœฌไบบใซๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ๏ผŒ้‡ๅบฆใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผŒ็ฅž็ตŒ็ดฐ่ƒž้Š่ตฐ้šœๅฎณใซใ‚ˆใ‚‹่„ณๅฅ‡ๅฝขใจ้ซ˜้ ปๅบฆใฎ็œผๅˆไฝต็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹๏ผŽ1990ๅนดไปฃใซ9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠ้บไผๅญๅบง(9q31-33)ใฎๅŒๅฎšใซๅผ•ใ็ถšใ๏ผŒๅŽŸๅ› ้บไผๅญfukutin๏ผˆFKTN๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŽFKTN้บไผๅญ็”ฃ็‰ฉใฏฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒณ๏ผˆฮฑ-dystroglycan: ฮฑ-DG๏ผ‰ใฎ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใจ่€ƒใˆใ‚‰ใ‚Œ๏ผŒฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไธ€็พคใซๅฑžใ™ใ‚‹๏ผŽ - 2200860 - - Fukuyama congenital muscular dystrophy + + 15 + 1960ๅนดใซ็ฆๅฑฑใ‚‰ใซๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงๆ—ฅๆœฌไบบใซๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ๏ผŒ้‡ๅบฆใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผŒ็ฅž็ตŒ็ดฐ่ƒž้Š่ตฐ้šœๅฎณใซใ‚ˆใ‚‹่„ณๅฅ‡ๅฝขใจ้ซ˜้ ปๅบฆใฎ็œผๅˆไฝต็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹๏ผŽ1990ๅนดไปฃใซ9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠ้บไผๅญๅบง(9q31-33)ใฎๅŒๅฎšใซๅผ•ใ็ถšใ๏ผŒๅŽŸๅ› ้บไผๅญfukutin๏ผˆFKTN๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŽFKTN้บไผๅญ็”ฃ็‰ฉใฏฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒณ๏ผˆฮฑ-dystroglycan: ฮฑ-DG๏ผ‰ใฎ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใจ่€ƒใˆใ‚‰ใ‚Œ๏ผŒฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไธ€็พคใซๅฑžใ™ใ‚‹๏ผŽ + NANDO:2200860 + + Fukuyama type congenital muscular dystrophy + ใตใใ‚„ใพใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - + FCMD - ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 16 - ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1994ๅนดใซTomรฉใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒๆฌง็ฑณใซ้ ปๅบฆใŒ้ซ˜ใๆ—ฅๆœฌใงใฏ็จ€ใงใ‚ใ‚‹๏ผŽใƒฉใƒŸใƒ‹ใƒณฮฑ2้Ž–ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹LNMA2้บไผๅญใซใ‚ˆใ‚Š๏ผŒใƒฉใƒŸใƒ‹ใƒณ211๏ผˆใƒกใƒญใ‚ทใƒณ๏ผ‰ใฎๅฎŒๅ…จใพใŸใฏ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŽ้ž็ฆๅฑฑๅž‹ใซๅˆ†้กžใ•ใ‚Œ๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽ - 2200861 - + + 16 + ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1994ๅนดใซTomรฉใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒๆฌง็ฑณใซ้ ปๅบฆใŒ้ซ˜ใๆ—ฅๆœฌใงใฏ็จ€ใงใ‚ใ‚‹๏ผŽใƒฉใƒŸใƒ‹ใƒณฮฑ2้Ž–ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹LNMA2้บไผๅญใซใ‚ˆใ‚Š๏ผŒใƒฉใƒŸใƒ‹ใƒณ211๏ผˆใƒกใƒญใ‚ทใƒณ๏ผ‰ใฎๅฎŒๅ…จใพใŸใฏ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŽ้ž็ฆๅฑฑๅž‹ใซๅˆ†้กžใ•ใ‚Œ๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽ + NANDO:2200861 + merosin-deficient congenital muscular dystrophy + ใ‚ใ‚ใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - + ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 10 - Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1930ๅนดใซUllrichใŒscleroatonic (sclero: ่ฟ‘ไฝ้–ข็ฏ€ๆ‹˜็ธฎใ€atonic:ใ€€้ ไฝ้–ข็ฏ€้Žไผธๅฑ•) congenital muscular dystrophyใจใ—ใฆๅ ฑๅ‘Šใ—๏ผŒๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎๆฌกใซ้ ปๅบฆใฎ้ซ˜ใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽVIๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ‚ˆใ‚Š๏ผŒ้‡็—‡ๅž‹ใฎUllrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจ่ปฝ็—‡ๅž‹ใฎBethlemๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็”Ÿใ˜ใ‚‹๏ผŽ - 2200862 - + + 10 + Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1930ๅนดใซUllrichใŒscleroatonic (sclero: ่ฟ‘ไฝ้–ข็ฏ€ๆ‹˜็ธฎใ€atonic:ใ€€้ ไฝ้–ข็ฏ€้Žไผธๅฑ•) congenital muscular dystrophyใจใ—ใฆๅ ฑๅ‘Šใ—๏ผŒๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎๆฌกใซ้ ปๅบฆใฎ้ซ˜ใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽVIๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ‚ˆใ‚Š๏ผŒ้‡็—‡ๅž‹ใฎUllrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจ่ปฝ็—‡ๅž‹ใฎBethlemๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็”Ÿใ˜ใ‚‹๏ผŽ + NANDO:2200862 + Ullrich congenital muscular dystrophy + ใ†ใ‚‹ใ‚ŠใฒใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - + + Ullrich disease + Ullrich's disease Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + ใ‚ฆใƒซใƒชใƒƒใƒ’็—… - ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 17 - 2200863 - + + 17 + NANDO:2200863 + + 38ใ‹ใ‚‰44ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ 38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ Other muscular dystrophy - + 38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 17 - ไนณๅนผๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ็ท็งฐใงใ‚ใ‚‹๏ผŽๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹๏ผˆFukuyama type CMD๏ผšFCMD๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„๏ผŽใใฎไป–Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆUllrich congenital muscular dystrophy: UCMD๏ผ‰๏ผŒLMNA้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ใ‚‚ใฎ๏ผˆlamin related CMD๏ผšL-CMD๏ผ‰ใ‚„ใƒกใƒญใ‚ทใƒณๆฌ ๆ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใŒใ€็—…ๅ› ใŒๅŒๅฎšใงใใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹๏ผŽ็ฆๅฑฑๅž‹ใฎ็—…ๅ› ใงใ‚ใ‚‹fukutin้บไผๅญใชใฉใฏ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’ฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจ็ท็งฐใ™ใ‚‹๏ผŽ - 2200864 - + + 17 + ไนณๅนผๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ็ท็งฐใงใ‚ใ‚‹๏ผŽๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹๏ผˆFukuyama type CMD๏ผšFCMD๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„๏ผŽใใฎไป–Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆUllrich congenital muscular dystrophy: UCMD๏ผ‰๏ผŒLMNA้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ใ‚‚ใฎ๏ผˆlamin related CMD๏ผšL-CMD๏ผ‰ใ‚„ใƒกใƒญใ‚ทใƒณๆฌ ๆ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใŒใ€็—…ๅ› ใŒๅŒๅฎšใงใใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹๏ผŽ็ฆๅฑฑๅž‹ใฎ็—…ๅ› ใงใ‚ใ‚‹fukutin้บไผๅญใชใฉใฏ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’ฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจ็ท็งฐใ™ใ‚‹๏ผŽ + NANDO:2200864 + Myotonic dystrophy - ็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + ใใ‚“ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ + ็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - + + ็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - ็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + ็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 17 - ่‡จๅบŠ็—‡็Šถใฏใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆDMD๏ผ‰ใซ้กžไผผใ™ใ‚‹ใŒใ€็™บ็—‡ๆ™‚ๆœŸใ‚„้€ฒ่กŒใŒใ‚ˆใ‚Š้…ใใ€ๆญฉ่กŒไธ่ƒฝๆ™‚ๆœŸใฏๅฐ‘ใชใใจใ‚‚15ๆญณไปฅ้™ใงใ‚ใ‚‹๏ผŽDMDใจ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ‚ˆใ†ใชๆ—ฉๆœŸ็™บ็—‡ไพ‹ใ‹ใ‚‰ใ€ๆˆไบบๅพŒๆœŸ็™บ็—‡ใพใง้‡็—‡ๅบฆใซๅน…ใŒใ‚ใ‚‹๏ผŽ็™บ็—‡ใ™ใ‚‹ใจ็ทฉๅพใซ้‹ๅ‹•ๆฉŸ่ƒฝไฝŽไธ‹ใ‚’็คบใ™ใ“ใจใ‚‚ๅคšใ„๏ผŽๅฐๅ…ๆœŸใซใŸใพใŸใพ่กŒใฃใŸๆคœๆŸปใซใ‚ˆใฃใฆๆœช็™บ็—‡ใฎ็Šถๆ…‹ใง้ซ˜CK่ก€็—‡ใ‚’่ชใ‚ใŸใ“ใจใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใซ่‡ณใ‚‹ไพ‹ใ‚‚ๅคšใ„๏ผŽ - 2200865 - + + 17 + ่‡จๅบŠ็—‡็Šถใฏใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆDMD๏ผ‰ใซ้กžไผผใ™ใ‚‹ใŒใ€็™บ็—‡ๆ™‚ๆœŸใ‚„้€ฒ่กŒใŒใ‚ˆใ‚Š้…ใใ€ๆญฉ่กŒไธ่ƒฝๆ™‚ๆœŸใฏๅฐ‘ใชใใจใ‚‚15ๆญณไปฅ้™ใงใ‚ใ‚‹๏ผŽDMDใจ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ‚ˆใ†ใชๆ—ฉๆœŸ็™บ็—‡ไพ‹ใ‹ใ‚‰ใ€ๆˆไบบๅพŒๆœŸ็™บ็—‡ใพใง้‡็—‡ๅบฆใซๅน…ใŒใ‚ใ‚‹๏ผŽ็™บ็—‡ใ™ใ‚‹ใจ็ทฉๅพใซ้‹ๅ‹•ๆฉŸ่ƒฝไฝŽไธ‹ใ‚’็คบใ™ใ“ใจใ‚‚ๅคšใ„๏ผŽๅฐๅ…ๆœŸใซใŸใพใŸใพ่กŒใฃใŸๆคœๆŸปใซใ‚ˆใฃใฆๆœช็™บ็—‡ใฎ็Šถๆ…‹ใง้ซ˜CK่ก€็—‡ใ‚’่ชใ‚ใŸใ“ใจใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใซ่‡ณใ‚‹ไพ‹ใ‚‚ๅคšใ„๏ผŽ + NANDO:2200865 + Becker muscular dystrophy + ในใฃใ‹ใƒผใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + - - + BMD - ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 17 - ็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆˆไบบๆœŸใพใงๅน…ๅบƒใ„๏ผŽ้ชจๆ ผ็ญ‹็—‡็Šถไปฅๅค–ใซๅคš่‡“ๅ™จใฎ็—‡็Šถใ‚’ๅˆไฝตใ—ใ†ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ1ๅž‹๏ผˆDM1๏ผ‰ใจ2ๅž‹๏ผˆDM2๏ผ‰ใŒๅญ˜ๅœจใ™ใ‚‹ใŒๆ—ฅๆœฌใงใฏใปใจใ‚“ใฉใŒDM1ใงใ‚ใ‚‹๏ผŽ - 2200866 - + + 17 + ็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆˆไบบๆœŸใพใงๅน…ๅบƒใ„๏ผŽ้ชจๆ ผ็ญ‹็—‡็Šถไปฅๅค–ใซๅคš่‡“ๅ™จใฎ็—‡็Šถใ‚’ๅˆไฝตใ—ใ†ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ1ๅž‹๏ผˆDM1๏ผ‰ใจ2ๅž‹๏ผˆDM2๏ผ‰ใŒๅญ˜ๅœจใ™ใ‚‹ใŒๆ—ฅๆœฌใงใฏใปใจใ‚“ใฉใŒDM1ใงใ‚ใ‚‹๏ผŽ + NANDO:2200866 + + LMNA-related congenital muscular dystrophy LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - lamin related CMD + ใˆใ‚‹ใˆใ‚€ใˆใฌใˆใƒผใ„ใงใ‚“ใ—ใธใ‚“ใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ - + L-CMD + lamin related CMD LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 52 - ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200867 - - myotubular myopathy + + 52 + ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200867 + + Myotubular myopathy + ใฟใŠใกใ‚…ใถใ‚‰ใƒผใฟใŠใฑใกใƒผ ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ + - - Centronuclear myopathy + + X-linked centronuclear myopathy ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ - - 48 - ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200868 - + + 48 + ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200868 + Congenital fiber-type disproportion myopathy + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ›ใ‚“ใ„ใตใใ‚“ใจใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡ + - + + ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡ - - 50 - ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200869 - - nemaline myopathy + + 50 + ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200869 + + Nemaline myopathy + ใญใพใ‚Šใ‚“ใฟใŠใฑใกใƒผ ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ - + - + ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ - - 49 - ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200870 - - central core disease + + 49 + ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200870 + + Central core disease + ใ›ใ‚“ใจใ‚‰ใ‚‹ใ“ใ‚ใณใ‚‡ใ† ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—… + - - + ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—… - - 51 - ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200871 - + + 51 + ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200871 + multicore disease + ใพใ‚‹ใกใ“ใ‚ใณใ‚‡ใ† ใƒžใƒซใƒใ‚ณใ‚ข็—… - + ใƒžใƒซใƒใ‚ณใ‚ข็—… - - 53 - ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200872 - - mini core disease + + 53 + ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200872 + + Minicore myopathy + ใฟใซใ“ใ‚ใณใ‚‡ใ† ใƒŸใƒ‹ใ‚ณใ‚ข็—… + - + + Mini core disease ใƒŸใƒ‹ใ‚ณใ‚ข็—… - - 54 - ็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200873 - + + 54 + NANDO:2200873 + + 46ใ‹ใ‚‰51ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ 46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ other congenital structural myopathy - + 46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ - - 54 - 2200874 - - Congenital Neuromuscular Disease with Uniform Type 1 Fiber + + 54 + NANDO:2200874 + + Congenital neuromuscular disease with uniform type 1 fiber + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใœใ‚“ใŸใ„ใท1ใ›ใ‚“ใ„ใฟใŠใฑใกใƒผ ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ - - CNMDU1 + + CNMDU1 ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ - - 54 - 2200875 - + + 54 + NANDO:2200875 + reducing body myopathy + ใ‹ใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใŸใ„ใฟใŠใฑใกใƒผ ้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ + - + ้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ - - 22 - ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พคใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจๅ…ฑใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ - 2200876 - + + 22 + ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พคใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจๅ…ฑใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ + NANDO:2200876 + Schwartz-Jampel syndrome + ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค + - - + + SJS Schwartz-Jampel็—‡ๅ€™็พค ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค - - 61 - ไนณๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚Šใ€ๅ…ฅๆตดใ‚„็™บ็†ฑใง่ช˜็™บใ•ใ‚Œใ‚„ใ™ใ„็„ฆ็‚นๆ€งใ€็‰‡ๅดๆ€งใ‚‚ใ—ใใฏๅ…จ่ˆฌๆ€งใฎ้–“ไปฃๆ€งใ‘ใ„ใ‚Œใ‚“็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€้‡็ฉใƒป็พค็™บๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚1ๆญณ้ ƒใ‚ˆใ‚Šใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใฎใฟใชใ‚‰ใšใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใŒๅ‡บ็พใ—ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใ‚‚ๅœๆปžใ™ใ‚‹ใ€‚ใพใŸไธ€้ƒจใฎไพ‹ใงใฏๅ…‰ใƒปๅ›ณๅฝข้Žๆ•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่ˆฌๆ€งใ‚„็‰‡ๅดๆ€งใฎใ‘ใ„ใ‚Œใ‚“็™บไฝœใจ่ค‡้›‘้ƒจๅˆ†็™บไฝœใฎใฟๅ‘ˆใ—ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ‚’ไฝตๅญ˜ใ—ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ70-80๏ผ…ใฎ็—‡ไพ‹ใงใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ้บไผๅญSCN1Aใฎใƒ˜ใƒ†ใƒญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏๅญฆ็ซฅๆœŸไปฅ้™ใซ่ปฝๆธ›ๅ‚พๅ‘ใจใชใ‚‹ใŒใ€ๅคฑ่ชฟใ‚„ไธๅ™จ็”จ๏ผŒๅคšๅ‹•๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚„่‡ช้–‰ๆ€ง้šœๅฎณใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็”Ÿ็Ž‡ใฏ2๏ฝž4ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚1989ๅนดใฎๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใงใฏๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใจ้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใฎไธก่€…ใฎ็‰นๅพดใ‚’ไฝตๆœ‰ใ™ใ‚‹ๆœชๆฑบๅฎšใฆใ‚“ใ‹ใ‚“ใซใ€2010ๅนดๅˆ†้กž่ฉฆๆกˆใงใฏไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใซๅซใพใ‚Œใ‚‹ใ€‚ใ‹ใฃใฆใฏไนณๅ…ๆœŸ็™บ็—‡ใงใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚ˆใ‚Šไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจๅ‘ผใฐใ‚ŒใŸใŒใ€ๅฟ…ใšใ—ใ‚‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†็—‡ไพ‹ใฐใ‹ใ‚Šใงใฏใชใ„ใ“ใจใ€ไนณๅ…ๆœŸ็™บ็—‡ใงใฏใ‚ใ‚‹ใŒๆˆไบบๆœŸใพใง็ถšใ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚‹ใ“ใจใ‚ˆใ‚Šใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ๅ€™็พคใ‚’ๆๅ”ฑใ—ใŸDravet ใฎๅใซๅ› ใ‚“ใงDravet็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200877 - + + 61 + ไนณๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚Šใ€ๅ…ฅๆตดใ‚„็™บ็†ฑใง่ช˜็™บใ•ใ‚Œใ‚„ใ™ใ„็„ฆ็‚นๆ€งใ€็‰‡ๅดๆ€งใ‚‚ใ—ใใฏๅ…จ่ˆฌๆ€งใฎ้–“ไปฃๆ€งใ‘ใ„ใ‚Œใ‚“็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€้‡็ฉใƒป็พค็™บๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚1ๆญณ้ ƒใ‚ˆใ‚Šใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใฎใฟใชใ‚‰ใšใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใŒๅ‡บ็พใ—ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใ‚‚ๅœๆปžใ™ใ‚‹ใ€‚ใพใŸไธ€้ƒจใฎไพ‹ใงใฏๅ…‰ใƒปๅ›ณๅฝข้Žๆ•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่ˆฌๆ€งใ‚„็‰‡ๅดๆ€งใฎใ‘ใ„ใ‚Œใ‚“็™บไฝœใจ่ค‡้›‘้ƒจๅˆ†็™บไฝœใฎใฟๅ‘ˆใ—ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ‚’ไฝตๅญ˜ใ—ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ70-80๏ผ…ใฎ็—‡ไพ‹ใงใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ้บไผๅญSCN1Aใฎใƒ˜ใƒ†ใƒญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏๅญฆ็ซฅๆœŸไปฅ้™ใซ่ปฝๆธ›ๅ‚พๅ‘ใจใชใ‚‹ใŒใ€ๅคฑ่ชฟใ‚„ไธๅ™จ็”จ๏ผŒๅคšๅ‹•๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚„่‡ช้–‰ๆ€ง้šœๅฎณใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็”Ÿ็Ž‡ใฏ2๏ฝž4ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚1989ๅนดใฎๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใงใฏๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใจ้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใฎไธก่€…ใฎ็‰นๅพดใ‚’ไฝตๆœ‰ใ™ใ‚‹ๆœชๆฑบๅฎšใฆใ‚“ใ‹ใ‚“ใซใ€2010ๅนดๅˆ†้กž่ฉฆๆกˆใงใฏไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใซๅซใพใ‚Œใ‚‹ใ€‚ใ‹ใฃใฆใฏไนณๅ…ๆœŸ็™บ็—‡ใงใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚ˆใ‚Šไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจๅ‘ผใฐใ‚ŒใŸใŒใ€ๅฟ…ใšใ—ใ‚‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†็—‡ไพ‹ใฐใ‹ใ‚Šใงใฏใชใ„ใ“ใจใ€ไนณๅ…ๆœŸ็™บ็—‡ใงใฏใ‚ใ‚‹ใŒๆˆไบบๆœŸใพใง็ถšใ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚‹ใ“ใจใ‚ˆใ‚Šใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ๅ€™็พคใ‚’ๆๅ”ฑใ—ใŸDravet ใฎๅใซๅ› ใ‚“ใงDravet็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200877 + Severe myoclonic epilepsy in infancy + ใซใ‚…ใ†ใ˜ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใฟใŠใใ‚ใซใƒผใฆใ‚“ใ‹ใ‚“ ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ - + Dravet syndrome - + Dravet็—‡ๅ€™็พค + ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค + ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ - - 60 - ๆฌง็ฑณใงใฏinfantile spasmsใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใใฎๆˆๅ› ใฏๅคšๅฝฉใงใ‚ใ‚Šใ€ๅ‡บ็”Ÿๅ‰็”ฑๆฅใฎ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใ‹ใ‚‰ๅพŒๅคฉ็š„ใชๆ€ฅๆ€ง่„ณ็‚ŽๅพŒ้บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅ‰ใฎ็™บ้”ใฏใ€้‡ๅบฆใฎ้…ใ‚ŒใŒใ‚ใ‚‹ๅ ดๅˆใ‹ใ‚‰ๆญฃๅธธ็™บ้”ใพใงใ‚ใ‚‹ใ€‚ๅฅฝ็™บๅนด้ฝขใฏ1ๆญณไปฅไธ‹ใงใ€2ๆญณไปฅไธŠใฏ็จ€ใงใ‚ใ‚‹ใ€‚ใใฎ็™บไฝœใฏ็‰น็•ฐใงใ‚ใ‚Šใ€ๅบงไฝใ‚„็ซ‹ไฝใงใฏ้ ญ้ƒจใ‚’ไธ€็žฌๅž‚ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๆœฌใงใฏ็‚น้ ญใฆใ‚“ใ‹ใ‚“็™บไฝœใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใซๅˆ†้กžใ•ใ‚ŒใŸใ‚Šใ€ๅผท็›ด็™บไฝœใซ่ฟ‘ใ„ใจใ„ใ†ใ“ใจใงๅผท็›ดใ‚นใƒ‘ใ‚นใƒ ใ‚นใจๅ‘ผใฐใ‚ŒใŸใ‚Šใ—ใŸๆ™‚ๆœŸใ‚‚ใ‚ใฃใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็‹ฌ็ซ‹ใ—ใŸ็™บไฝœๅž‹ๆฆ‚ๅฟตใจใ—ใฆใ€Œใฆใ‚“ใ‹ใ‚“ๆ€งใ‚นใƒ‘ใ‚นใƒ ใ‚น๏ผˆEpileptic spasms: ES๏ผ‰ใ€ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็™บไฝœใฏๅ˜็‹ฌใงใ‚‚ๅ‡บ็พใ™ใ‚‹ใŒใ€ๅคšใใฏใ€Œใ‚ทใƒชใƒผใ‚บๅฝขๆˆใ€ใจ็งฐใ•ใ‚Œใ‚‹ๆง˜ใซๅ‘จๆœŸๆ€ง๏ผˆ5-10็ง’ๆฏŽ๏ผ‰ใซๅ‡บ็พใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚่„ณๆณขๆ‰€่ฆ‹ใ‚‚็‰นๅพด็š„ใงใ€Gibbsใ‚‰ใซใ‚ˆใ‚Šใ€Œใƒ’ใƒ—ใ‚นใ‚ขใƒชใ‚นใƒŸใ‚ขใ€ใจๅ‘ฝๅใ•ใ‚ŒใŸ็„ก็งฉๅบใช้ซ˜ๆŒฏๅน…ๅพๆณขใจๆฃ˜ๆณขใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹็‰น็•ฐใช็™บไฝœ้–“ๆฌ ๆœŸ่„ณๆณขใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ฆš้†’ๆ™‚ใ€็ก็œ ๆ™‚ใ‚’ๅ•ใ‚ใšใปใผ้€ฃ็ถšใ—ใฆ้ซ˜ๅบฆใฎๅ…จ่ˆฌๆ€ง็•ฐๅธธๆณขใŒๅ‡บ็พใ—ใ€West็—‡ๅ€™็พคใŒๅฑžใ™ใ‚‹ใ€Œใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€ใฎๆฆ‚ๅฟตใฎไธญๆ ธใ‚’ๆˆใ™ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚็™บไฝœไบˆๅพŒใ€็Ÿฅ็š„ไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใ€ๆ€ฅ้€Ÿใช็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎๅœๆญขใ‚„้€€่กŒใฏไธๅฏ้€†ๆ€งใฎๅ ดๅˆใŒๅคšใ„ใ€‚ๆฒป็™‚ๆณ•ใซใฏ้™็•ŒใŒใ‚ใ‚‹ใŒใ€ใƒใ‚คใ‚ฌใƒใƒˆใƒชใƒณใ‚„ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocorticotropic hormone: ACTH)็™‚ๆณ•ใŒๆœฌ็—‡ๅ€™็พคๆฒป็™‚ใฎไธปๆตใ‚’ๆˆใ—ใฆใ„ใ‚‹ใ€‚ - 2200878 - + + 60 + ๆฌง็ฑณใงใฏinfantile spasmsใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใใฎๆˆๅ› ใฏๅคšๅฝฉใงใ‚ใ‚Šใ€ๅ‡บ็”Ÿๅ‰็”ฑๆฅใฎ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใ‹ใ‚‰ๅพŒๅคฉ็š„ใชๆ€ฅๆ€ง่„ณ็‚ŽๅพŒ้บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅ‰ใฎ็™บ้”ใฏใ€้‡ๅบฆใฎ้…ใ‚ŒใŒใ‚ใ‚‹ๅ ดๅˆใ‹ใ‚‰ๆญฃๅธธ็™บ้”ใพใงใ‚ใ‚‹ใ€‚ๅฅฝ็™บๅนด้ฝขใฏ1ๆญณไปฅไธ‹ใงใ€2ๆญณไปฅไธŠใฏ็จ€ใงใ‚ใ‚‹ใ€‚ใใฎ็™บไฝœใฏ็‰น็•ฐใงใ‚ใ‚Šใ€ๅบงไฝใ‚„็ซ‹ไฝใงใฏ้ ญ้ƒจใ‚’ไธ€็žฌๅž‚ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๆœฌใงใฏ็‚น้ ญใฆใ‚“ใ‹ใ‚“็™บไฝœใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใซๅˆ†้กžใ•ใ‚ŒใŸใ‚Šใ€ๅผท็›ด็™บไฝœใซ่ฟ‘ใ„ใจใ„ใ†ใ“ใจใงๅผท็›ดใ‚นใƒ‘ใ‚นใƒ ใ‚นใจๅ‘ผใฐใ‚ŒใŸใ‚Šใ—ใŸๆ™‚ๆœŸใ‚‚ใ‚ใฃใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็‹ฌ็ซ‹ใ—ใŸ็™บไฝœๅž‹ๆฆ‚ๅฟตใจใ—ใฆใ€Œใฆใ‚“ใ‹ใ‚“ๆ€งใ‚นใƒ‘ใ‚นใƒ ใ‚น๏ผˆEpileptic spasms: ES๏ผ‰ใ€ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็™บไฝœใฏๅ˜็‹ฌใงใ‚‚ๅ‡บ็พใ™ใ‚‹ใŒใ€ๅคšใใฏใ€Œใ‚ทใƒชใƒผใ‚บๅฝขๆˆใ€ใจ็งฐใ•ใ‚Œใ‚‹ๆง˜ใซๅ‘จๆœŸๆ€ง๏ผˆ5-10็ง’ๆฏŽ๏ผ‰ใซๅ‡บ็พใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚่„ณๆณขๆ‰€่ฆ‹ใ‚‚็‰นๅพด็š„ใงใ€Gibbsใ‚‰ใซใ‚ˆใ‚Šใ€Œใƒ’ใƒ—ใ‚นใ‚ขใƒชใ‚นใƒŸใ‚ขใ€ใจๅ‘ฝๅใ•ใ‚ŒใŸ็„ก็งฉๅบใช้ซ˜ๆŒฏๅน…ๅพๆณขใจๆฃ˜ๆณขใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹็‰น็•ฐใช็™บไฝœ้–“ๆฌ ๆœŸ่„ณๆณขใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ฆš้†’ๆ™‚ใ€็ก็œ ๆ™‚ใ‚’ๅ•ใ‚ใšใปใผ้€ฃ็ถšใ—ใฆ้ซ˜ๅบฆใฎๅ…จ่ˆฌๆ€ง็•ฐๅธธๆณขใŒๅ‡บ็พใ—ใ€West็—‡ๅ€™็พคใŒๅฑžใ™ใ‚‹ใ€Œใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€ใฎๆฆ‚ๅฟตใฎไธญๆ ธใ‚’ๆˆใ™ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚็™บไฝœไบˆๅพŒใ€็Ÿฅ็š„ไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใ€ๆ€ฅ้€Ÿใช็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎๅœๆญขใ‚„้€€่กŒใฏไธๅฏ้€†ๆ€งใฎๅ ดๅˆใŒๅคšใ„ใ€‚ๆฒป็™‚ๆณ•ใซใฏ้™็•ŒใŒใ‚ใ‚‹ใŒใ€ใƒใ‚คใ‚ฌใƒใƒˆใƒชใƒณใ‚„ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocorticotropic hormone: ACTH)็™‚ๆณ•ใŒๆœฌ็—‡ๅ€™็พคๆฒป็™‚ใฎไธปๆตใ‚’ๆˆใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2200878 + West syndrome - ็‚น้ ญใฆใ‚“ใ‹ใ‚“ + ใ†ใˆใ™ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค + - - ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค + + ็‚น้ ญใฆใ‚“ใ‹ใ‚“ - ็‚น้ ญใฆใ‚“ใ‹ใ‚“ + ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค - - 62 - 2็จฎ้กžไปฅไธŠใฎ็Ÿญใ„ๅ…จ่ˆฌ็™บไฝœใจใ€่„ณๆณขใง3Hzใ‚ˆใ‚Š้…ใ„ๅบƒๆฑŽๆ€ง็ทฉๅพๆ€งๆฃ˜ๅพๆณขใจ็ก็œ ๆ™‚ใฎๅ…จ่ˆฌๆ€ง้€Ÿๆณขๅพ‹ๅ‹•๏ผˆrapid rhythmใ€ๅ›ฝ้š›็š„ใซใฏburst of fast rhythm generalized paroxysmal fast activity๏ผ‰ใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€็™บไฝœใฏๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚Š๏ผˆ้•ทๆœŸใฎ็™บไฝœๆŠ‘ๅˆถใฏ็ด„5%๏ผ‰ใ€็Ÿฅ็š„้šœๅฎณใŒใปใผ100๏ผ…ใจใชใ‚‹ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃๅ๏ผˆILAE๏ผ‰ใฎ1989ๅนดๅˆ†้กžใงใฏใ€ๆฝœๅ› ๆ€งใพใŸใฏ็—‡ๅ€™ๆ€งๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใŠใ‚‚ใซๅนผๅ…ๆœŸ๏ผˆ1๏ฝž8ๆญณใ€ใƒ”ใƒผใ‚ฏใฏ3๏ฝž5ๆญณ๏ผ‰ใซ็™บ็—‡ใ‚ใ‚‹ใ„ใฏไป–ใฎใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค๏ผˆ็‰นใซWest็—‡ๅ€™็พค๏ผ‰ใ‹ใ‚‰ๅค‰ๅฎนใ™ใ‚‹ใ€‚2ๆญณไปฅๅ‰ใฎ็™บ็—‡ใ‚‚20๏ผ…ใฏใ‚ใ‚‹ใŒใ€10ๆญณไปฅ้™ใฎ็™บ็—‡ใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใซ50๏ฝž75๏ผ…ใฎไพ‹ใงใ‘ใ„ใ‚Œใ‚“ๆ€งใ‚ใ‚‹ใ„ใฏ้žใ‘ใ„ใ‚Œใ‚“ๆ€งใฎใฆใ‚“ใ‹ใ‚“้‡็ฉใ‚’็ตŒ้จ“ใ—ใ€ใ—ใฐใ—ใฐ็ฒพ็ฅž้‹ๅ‹•้€€่กŒใ‚’็คบใ™ใ€‚ - 2200879 - + + 62 + 2็จฎ้กžไปฅไธŠใฎ็Ÿญใ„ๅ…จ่ˆฌ็™บไฝœใจใ€่„ณๆณขใง3Hzใ‚ˆใ‚Š้…ใ„ๅบƒๆฑŽๆ€ง็ทฉๅพๆ€งๆฃ˜ๅพๆณขใจ็ก็œ ๆ™‚ใฎๅ…จ่ˆฌๆ€ง้€Ÿๆณขๅพ‹ๅ‹•๏ผˆrapid rhythmใ€ๅ›ฝ้š›็š„ใซใฏburst of fast rhythm generalized paroxysmal fast activity๏ผ‰ใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€็™บไฝœใฏๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚Š๏ผˆ้•ทๆœŸใฎ็™บไฝœๆŠ‘ๅˆถใฏ็ด„5%๏ผ‰ใ€็Ÿฅ็š„้šœๅฎณใŒใปใผ100๏ผ…ใจใชใ‚‹ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃๅ๏ผˆILAE๏ผ‰ใฎ1989ๅนดๅˆ†้กžใงใฏใ€ๆฝœๅ› ๆ€งใพใŸใฏ็—‡ๅ€™ๆ€งๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใŠใ‚‚ใซๅนผๅ…ๆœŸ๏ผˆ1๏ฝž8ๆญณใ€ใƒ”ใƒผใ‚ฏใฏ3๏ฝž5ๆญณ๏ผ‰ใซ็™บ็—‡ใ‚ใ‚‹ใ„ใฏไป–ใฎใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค๏ผˆ็‰นใซWest็—‡ๅ€™็พค๏ผ‰ใ‹ใ‚‰ๅค‰ๅฎนใ™ใ‚‹ใ€‚2ๆญณไปฅๅ‰ใฎ็™บ็—‡ใ‚‚20๏ผ…ใฏใ‚ใ‚‹ใŒใ€10ๆญณไปฅ้™ใฎ็™บ็—‡ใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใซ50๏ฝž75๏ผ…ใฎไพ‹ใงใ‘ใ„ใ‚Œใ‚“ๆ€งใ‚ใ‚‹ใ„ใฏ้žใ‘ใ„ใ‚Œใ‚“ๆ€งใฎใฆใ‚“ใ‹ใ‚“้‡็ฉใ‚’็ตŒ้จ“ใ—ใ€ใ—ใฐใ—ใฐ็ฒพ็ฅž้‹ๅ‹•้€€่กŒใ‚’็คบใ™ใ€‚ + NANDO:2200879 + Lennox-Gastaut syndrome + ใ‚Œใฎใฃใใ™ใƒปใŒใ™ใจใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค + - - + Lennox-Gastaut็—‡ๅ€™็พค ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค - - 29 - Unverricht-Lundborg็—…ใฏใ‚ทใ‚นใ‚ฟใƒใƒณB๏ผˆCSTB๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฎไธ€็—…ๅž‹ใงใ‚ใ‚‹ใ€‚ๅญฆ้ฝขๆœŸ๏ผˆ6ใ€œ15ๆญณ้ ƒ๏ผ‰ใซ็™บ็—‡ใ—ใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น็™บไฝœใ€ๅฐ่„ณๅคฑ่ชฟ็—‡็Šถใ€่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚็™บไฝœใฏ่บซไฝ“ๆดปๅ‹•ใ€็ฒพ็ฅž็š„ใ‚นใƒˆใƒฌใ‚นใ€ๅ…‰ๅˆบๆฟ€ใชใฉใซใ‚ˆใฃใฆ่ช˜็™บใ•ใ‚Œใ€็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใซใ‚ˆใ‚Š5ใ€œ10ๅนดใงๆญฉ่กŒๅ›ฐ้›ฃใจใชใ‚‹ใจใ•ใ‚ŒใฆใใŸใŒใ€่ฟ‘ๅนด่–ฌ็‰ฉ็™‚ๆณ•ใฎ้€ฒๆญฉใชใฉใซใ‚ˆใ‚Šๆญฉ่กŒไบˆๅพŒใŒๆ”นๅ–„ใ—ใฆใ„ใ‚‹ใ€‚ - 2200880 - + + 29 + Unverricht-Lundborg็—…ใฏใ‚ทใ‚นใ‚ฟใƒใƒณB๏ผˆCSTB๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฎไธ€็—…ๅž‹ใงใ‚ใ‚‹ใ€‚ๅญฆ้ฝขๆœŸ๏ผˆ6ใ€œ15ๆญณ้ ƒ๏ผ‰ใซ็™บ็—‡ใ—ใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น็™บไฝœใ€ๅฐ่„ณๅคฑ่ชฟ็—‡็Šถใ€่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚็™บไฝœใฏ่บซไฝ“ๆดปๅ‹•ใ€็ฒพ็ฅž็š„ใ‚นใƒˆใƒฌใ‚นใ€ๅ…‰ๅˆบๆฟ€ใชใฉใซใ‚ˆใฃใฆ่ช˜็™บใ•ใ‚Œใ€็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใซใ‚ˆใ‚Š5ใ€œ10ๅนดใงๆญฉ่กŒๅ›ฐ้›ฃใจใชใ‚‹ใจใ•ใ‚ŒใฆใใŸใŒใ€่ฟ‘ๅนด่–ฌ็‰ฉ็™‚ๆณ•ใฎ้€ฒๆญฉใชใฉใซใ‚ˆใ‚Šๆญฉ่กŒไบˆๅพŒใŒๆ”นๅ–„ใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2200880 + Unverricht-Lundborg disease + ใ†ใ‚“ใตใ‡ใ‚‹ใ‚Šใฒใจใƒปใ‚‹ใ‚“ใจใผใ‚‹ใใณใ‚‡ใ† ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—… - + Unverricht-Lundborg็—… ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—… - - 30 - ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonic epilepsy๏ผšPME๏ผ‰ใฎๅŽŸๅ› ็–พๆ‚ฃใฎไธ€ใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™้€ฒ่กŒๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใ€‚็ฅž็ตŒ็ดฐ่ƒžใ‚„ๅฟƒ็ญ‹็ดฐ่ƒžใซperiodic acid Schiff๏ผˆPAS๏ผ‰ๆŸ“่‰ฒ้™ฝๆ€งใฎๅ‡้›†ไฝ“ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฅๅ‰ใฏ็šฎ่†šใ‚„็ฅž็ตŒ็”Ÿๆคœใงใƒฉใƒ•ใ‚ฉใƒฉ๏ผˆLafora๏ผ‰ๅฐไฝ“ใ‚’่จผๆ˜Žใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚่ฟ‘ๅนดใ€ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œไธ€้ƒจใฎๅฐ‚้–€ๆ–ฝ่จญใงใฏ้บไผๅญ่จบๆ–ญใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200881 - + + 30 + ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonic epilepsy๏ผšPME๏ผ‰ใฎๅŽŸๅ› ็–พๆ‚ฃใฎไธ€ใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™้€ฒ่กŒๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใ€‚็ฅž็ตŒ็ดฐ่ƒžใ‚„ๅฟƒ็ญ‹็ดฐ่ƒžใซperiodic acid Schiff๏ผˆPAS๏ผ‰ๆŸ“่‰ฒ้™ฝๆ€งใฎๅ‡้›†ไฝ“ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฅๅ‰ใฏ็šฎ่†šใ‚„็ฅž็ตŒ็”Ÿๆคœใงใƒฉใƒ•ใ‚ฉใƒฉ๏ผˆLafora๏ผ‰ๅฐไฝ“ใ‚’่จผๆ˜Žใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚่ฟ‘ๅนดใ€ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œไธ€้ƒจใฎๅฐ‚้–€ๆ–ฝ่จญใงใฏ้บไผๅญ่จบๆ–ญใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200881 + Lafora disease + ใ‚‰ใตใ‰ใ‚‰ใณใ‚‡ใ† ใƒฉใƒ•ใ‚ฉใƒฉ็—… + - - + Lafora็—… ใƒฉใƒ•ใ‚ฉใƒฉ็—… - - 36 - ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ ่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ€ไฝ•ใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒใ‚ใ ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใค็‰ฉ๏ผˆ้ž็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ - 2200882 - - spinocerebellar degeneration + + 36 + ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ ่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ€ไฝ•ใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒใ‚ใ ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใค็‰ฉ๏ผˆ้ž็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ + NANDO:2200882 + + Spinocerebellar degeneration + ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - + - + SCD - - - ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ - - 23 - ไนณๅ…ๆœŸใ‹ใ‚‰ๅนผๅ…ๆœŸๅˆใ‚ใพใงใซ็™บ็—‡ใ™ใ‚‹ๅทฆๅณไธๅฎšใฎไธ€้Žๆ€ง้บป็—บ็—‡็Šถใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚็Ÿฅ็š„้šœๅฎณใจ้‹ๅ‹•้šœๅฎณใ‚’ไผดใ†ใ€‚ - 2200883 - + + 23 + ไนณๅ…ๆœŸใ‹ใ‚‰ๅนผๅ…ๆœŸๅˆใ‚ใพใงใซ็™บ็—‡ใ™ใ‚‹ๅทฆๅณไธๅฎšใฎไธ€้Žๆ€ง้บป็—บ็—‡็Šถใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚็Ÿฅ็š„้šœๅฎณใจ้‹ๅ‹•้šœๅฎณใ‚’ไผดใ†ใ€‚ + NANDO:2200883 + alternating hemiplegia of childhood + ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ - - + - + AHC - ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ - - 77 - ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใฏใ€ๆŒ็ถšๆ€งใพใŸใฏๅๅพฉๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚‹็•ฐๅธธๅงฟๅ‹ขใ‚„ไธ้šๆ„้‹ๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹้‹ๅ‹•็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใƒผใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃ็พคใฎๅ†…ใงใ€่„ณใฎๅ™จ่ณช็š„็—…ๅค‰ใ‚„ๅค‰ๆ€งใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งใ‚ธใ‚นใƒˆใƒ‹ใƒผใจๅ‘ผใณใ€่ฟ‘ๅนดๆ•ฐๅคšใใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(DYTใ‚ทใƒชใƒผใ‚บ)ใ€‚ใ“ใ“ใงใฏDYTใ‚ทใƒชใƒผใ‚บใซๅซใพใ‚Œใ‚‹็–พๆ‚ฃ็พคใ‚’ใ€ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ - 2200884 - + + 77 + ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใฏใ€ๆŒ็ถšๆ€งใพใŸใฏๅๅพฉๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚‹็•ฐๅธธๅงฟๅ‹ขใ‚„ไธ้šๆ„้‹ๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹้‹ๅ‹•็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใƒผใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃ็พคใฎๅ†…ใงใ€่„ณใฎๅ™จ่ณช็š„็—…ๅค‰ใ‚„ๅค‰ๆ€งใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งใ‚ธใ‚นใƒˆใƒ‹ใƒผใจๅ‘ผใณใ€่ฟ‘ๅนดๆ•ฐๅคšใใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(DYTใ‚ทใƒชใƒผใ‚บ)ใ€‚ใ“ใ“ใงใฏDYTใ‚ทใƒชใƒผใ‚บใซๅซใพใ‚Œใ‚‹็–พๆ‚ฃ็พคใ‚’ใ€ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ + NANDO:2200884 + dystonia musculorum deformans + ใธใ‚“ใ‘ใ„ใ›ใ„ใใ‚“ใ˜ใ™ใจใซใƒผ ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ - - + - ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ - - 76 - ็€ฌๅท็—…ใฏ1971ๅนดใซ็€ฌๅทใ‚‰1)ใŒใ€ใ€Œ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€งๅคง่„ณๅŸบๅบ•ๆ ธ็–พๆ‚ฃใ€ใจใ—ใฆไธ–็•Œใงใฏใ˜ใ‚ใฆๅฐๅ…ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใ€‚ 1990ๅนดใซ่—ค็”ฐใƒปๆ–ฐๅฎ…2)ใซใ‚ˆใ‚Š็€ฌๅท็—…ๆ‚ฃ่€…ใฎ้ซ„ๆถฒไธญใƒ—ใƒ†ใƒชใ‚ธใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ GTPใ‚ทใ‚ฏใƒญใ‚ทใƒ‰ใƒญใƒฉใƒผใ‚ผโ… ๏ผˆGTPCH๏ผ‰ๆดปๆ€งใฎไฝŽไธ‹ใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใŸใŒใ€1994ๅนดใซไธ€็€ฌใ‚‰3)ใซใ‚ˆใ‚Š ็€ฌๅท็—…ๆ‚ฃ่€…ใงGTPCH้บไผๅญ๏ผˆGCH1๏ผ‰ใฎๅค‰็•ฐใŒ็‰‡ๆ–นใฎใ‚ขใƒชใƒซใซ็™บ่ฆ‹ใ•ใ‚Œใ€GTPCHใฎ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใ—ใฆDYT5ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€็—…ๅ› ใฏ่ฃœ้…ต็ด ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅˆๆˆ้šœๅฎณใซใ‚ˆใ‚‹็ฅž็ตŒไผ้”็‰ฉ่ณช็—…ใงใ‚ใ‚Šใ€ ็พๅœจใงใฏๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็ฌฌ14ๆŸ“่‰ฒไฝ“๏ผˆ14q22.1-22.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹GCH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ ้ป’่ณช็ทšๆกไฝ“ใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ณป็ต‚ๆœซ้ƒจใฎใƒ‰ใƒ‘ใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹ๅ›บ็ธฎๅž‹็ญ‹็ทŠๅผต็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขๅงฟๅ‹ขใŠใ‚ˆใณใ‚ธใ‚นใƒˆใƒ‹ใ‚ข้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ ๅ…ธๅž‹ไพ‹ใฏ10ๆญณไปฅไธ‹ใซ็™บ็—‡ใ™ใ‚‹ใŒๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฅณๆ€งๅ„ชไฝใฎๆ€งๅทฎใ‚’ๆœ‰ใ™ใ‚‹๏ผˆ็”ท๏ผšๅฅณ๏ผ1๏ผš4๏ผ‰ใ€‚ ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใจใใซๅฐๅ…ๆœŸใฎๅงฟๅ‹ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ - 2200885 - - Segeawa syndrome + + 76 + ็€ฌๅท็—…ใฏ1971ๅนดใซ็€ฌๅทใ‚‰1)ใŒใ€ใ€Œ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€งๅคง่„ณๅŸบๅบ•ๆ ธ็–พๆ‚ฃใ€ใจใ—ใฆไธ–็•Œใงใฏใ˜ใ‚ใฆๅฐๅ…ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใ€‚ 1990ๅนดใซ่—ค็”ฐใƒปๆ–ฐๅฎ…2)ใซใ‚ˆใ‚Š็€ฌๅท็—…ๆ‚ฃ่€…ใฎ้ซ„ๆถฒไธญใƒ—ใƒ†ใƒชใ‚ธใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ GTPใ‚ทใ‚ฏใƒญใ‚ทใƒ‰ใƒญใƒฉใƒผใ‚ผโ… ๏ผˆGTPCH๏ผ‰ๆดปๆ€งใฎไฝŽไธ‹ใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใŸใŒใ€1994ๅนดใซไธ€็€ฌใ‚‰3)ใซใ‚ˆใ‚Š ็€ฌๅท็—…ๆ‚ฃ่€…ใงGTPCH้บไผๅญ๏ผˆGCH1๏ผ‰ใฎๅค‰็•ฐใŒ็‰‡ๆ–นใฎใ‚ขใƒชใƒซใซ็™บ่ฆ‹ใ•ใ‚Œใ€GTPCHใฎ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใ—ใฆDYT5ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€็—…ๅ› ใฏ่ฃœ้…ต็ด ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅˆๆˆ้šœๅฎณใซใ‚ˆใ‚‹็ฅž็ตŒไผ้”็‰ฉ่ณช็—…ใงใ‚ใ‚Šใ€ ็พๅœจใงใฏๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็ฌฌ14ๆŸ“่‰ฒไฝ“๏ผˆ14q22.1-22.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹GCH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ ้ป’่ณช็ทšๆกไฝ“ใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ณป็ต‚ๆœซ้ƒจใฎใƒ‰ใƒ‘ใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹ๅ›บ็ธฎๅž‹็ญ‹็ทŠๅผต็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขๅงฟๅ‹ขใŠใ‚ˆใณใ‚ธใ‚นใƒˆใƒ‹ใ‚ข้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ ๅ…ธๅž‹ไพ‹ใฏ10ๆญณไปฅไธ‹ใซ็™บ็—‡ใ™ใ‚‹ใŒๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฅณๆ€งๅ„ชไฝใฎๆ€งๅทฎใ‚’ๆœ‰ใ™ใ‚‹๏ผˆ็”ท๏ผšๅฅณ๏ผ1๏ผš4๏ผ‰ใ€‚ ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใจใใซๅฐๅ…ๆœŸใฎๅงฟๅ‹ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ + NANDO:2200885 + + Segawa syndrome + ใ›ใŒใ‚ใณใ‚‡ใ† ็€ฌๅท็—… - - + DRD Dopamine-responsive dystonia HPD Hereditary progressive dystonia with diurnal variation - + ็€ฌๅท็—… - - 75 - ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ2 ๏ผˆPANK2๏ผ‰ ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ๏ผˆNeurodegeneration with brain iron accumulation; NBIA๏ผ‰ใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200886 - + + 75 + ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ2 ๏ผˆPANK2๏ผ‰ ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ๏ผˆNeurodegeneration with brain iron accumulation; NBIA๏ผ‰ใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200886 + Pantothenate kinase-associated neurodegeneration + ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ† ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡ - + PKAN ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡ - - 74 - ็ฌฌ22็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚‹Phospholipase A2, group VI (PLA2G6) ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณๅ†…้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡ (neurodegeneration with brain iron accumulation; NBIA)ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ - 2200887 - + + 74 + ็ฌฌ22็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚‹Phospholipase A2, group VI (PLA2G6) ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณๅ†…้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡ (neurodegeneration with brain iron accumulation; NBIA)ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ + NANDO:2200887 + infantile neuroaxonal dystrophy + ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใ˜ใใ•ใใ˜ใ™ใจใ‚ใตใƒใƒผ ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - + INAD - ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ - - 64 - ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ€้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ไธปใจใ™ใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’็”Ÿใ˜ใ€ไธกๅด็ทšๆกไฝ“ใฎๅค‰ๆ€งใƒปๅฃŠๆญปใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ใ‚ฆใ‚คใƒซใ‚นใ‚„ใƒžใ‚คใ‚ณใƒ—ใƒฉใ‚บใƒžใฎๆ„ŸๆŸ“ใซไผดใ„ๆ€ฅๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใจใ€้บไผๆ€ง็–พๆ‚ฃใซๅŸบใฅใไบœๆ€ฅๆ€งใชใ„ใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใŒใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏๅฐๅ…ๆ…ขๆ€ง็–พๆ‚ฃใฎๅฏพ่ฑกใจใชใ‚‹ๅพŒ่€…ใซใคใ„ใฆ่ฟฐในใ‚‹ใ€‚ - 2200888 - + + 64 + ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ€้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ไธปใจใ™ใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’็”Ÿใ˜ใ€ไธกๅด็ทšๆกไฝ“ใฎๅค‰ๆ€งใƒปๅฃŠๆญปใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ใ‚ฆใ‚คใƒซใ‚นใ‚„ใƒžใ‚คใ‚ณใƒ—ใƒฉใ‚บใƒžใฎๆ„ŸๆŸ“ใซไผดใ„ๆ€ฅๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใจใ€้บไผๆ€ง็–พๆ‚ฃใซๅŸบใฅใไบœๆ€ฅๆ€งใชใ„ใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใŒใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏๅฐๅ…ๆ…ขๆ€ง็–พๆ‚ฃใฎๅฏพ่ฑกใจใชใ‚‹ๅพŒ่€…ใซใคใ„ใฆ่ฟฐในใ‚‹ใ€‚ + NANDO:2200888 + infantile bilateral striatal necrosis + ใซใ‚…ใ†ใ˜ใ‚Šใ‚‡ใ†ใใใ›ใ‚“ใ˜ใ‚‡ใ†ใŸใ„ใˆใ— ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป - - + IBSN - ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป - - 44 - ๆ–ฐ็”Ÿๅ…ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผˆherpes simplex virus๏ผšHSV๏ผ‰ๆ„ŸๆŸ“็—‡ใฏใ€ๅˆ†ๅจฉๅ‰ๅพŒใฎHSVใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใ€‚ๆฐด็–ฑใชใฉใฎ็šฎ่†š็—…ๅค‰ใ€็œผ็ƒใƒปๅฃ่…”็ฒ˜่†œ็—…ๅค‰ใซๅŠ ใˆใฆใ€็—…ๅž‹ใซใ‚ˆใฃใฆใฏ่„ณ็‚Žใ€่‚้šœๅฎณใชใฉใฎ่‡“ๅ™จ็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใ‚ฆใ‚คใƒซใ‚นๅŸน้คŠใ€HSV้บไผๅญๅŒๅฎšใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚้ซ˜็”จ้‡ใฎใ‚ขใ‚ทใ‚ฏใƒญใƒ“ใƒซ้™ๆณจ็™‚ๆณ•ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่‡ดๆญป็Ž‡ใ€็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡็Ž‡ใจใ‚‚้ซ˜ใ„ใ€‚ - 2200889 - + + 44 + ๆ–ฐ็”Ÿๅ…ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผˆherpes simplex virus๏ผšHSV๏ผ‰ๆ„ŸๆŸ“็—‡ใฏใ€ๅˆ†ๅจฉๅ‰ๅพŒใฎHSVใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใ€‚ๆฐด็–ฑใชใฉใฎ็šฎ่†š็—…ๅค‰ใ€็œผ็ƒใƒปๅฃ่…”็ฒ˜่†œ็—…ๅค‰ใซๅŠ ใˆใฆใ€็—…ๅž‹ใซใ‚ˆใฃใฆใฏ่„ณ็‚Žใ€่‚้šœๅฎณใชใฉใฎ่‡“ๅ™จ็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใ‚ฆใ‚คใƒซใ‚นๅŸน้คŠใ€HSV้บไผๅญๅŒๅฎšใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚้ซ˜็”จ้‡ใฎใ‚ขใ‚ทใ‚ฏใƒญใƒ“ใƒซ้™ๆณจ็™‚ๆณ•ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่‡ดๆญป็Ž‡ใ€็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡็Ž‡ใจใ‚‚้ซ˜ใ„ใ€‚ + NANDO:2200889 + Congenital herpes simplex virus infection + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใธใ‚‹ใบใ™ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - + ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - - 43 - ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ—ๅ…็–ซใฎใชใ„ๅฅณๆ€งใŒๅฆŠๅจ ๅˆๆœŸใซ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๆ„ŸๆŸ“ใ—ใ€ใ‚ฆใ‚คใƒซใ‚นใŒ่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‡บ็”Ÿๅ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃ่ดใ€็™ฝๅ†…้šœใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใ‚’็ท็งฐใ—ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค๏ผˆcongenital rubella syndrome๏ผšCRS๏ผ‰ใจๅ‘ผใถใ€‚่‚่„พ็จฎใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็™บ่‚ฒ้šœๅฎณใชใฉใ‚‚็”Ÿใ˜ใ‚‹ใ€‚้ขจ็–นใฎๆต่กŒๆœŸใŒๆ˜ฅใ‹ใ‚‰ๅˆๅคใงใ‚ใ‚‹ใŸใ‚ใ€CRSๅ…ใฏ็ง‹ใ‹ใ‚‰ๅ†ฌใซ็”Ÿใพใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ„ŸๆŸ“็—‡ๆณ•๏ผˆ2012ๅนดๆ›ดๆ–ฐ๏ผ‰ใงใฏใ€CRSใฏๅ…จๆ•ฐๅ ฑๅ‘Šๅฏพ่ฑก๏ผˆ5้กžๆ„ŸๆŸ“็—‡๏ผ‰ใงใ‚ใ‚Šใ€ๅŒปๅธซใฏ่จบๆ–ญๅพŒ7ๆ—ฅไปฅๅ†…ใซไฟๅฅๆ‰€ใซๅฑŠใ‘ๅ‡บใชใ‘ใ‚Œใฐใชใ‚‰ใชใ„ใ€‚ - 2200890 - + + 43 + ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ—ๅ…็–ซใฎใชใ„ๅฅณๆ€งใŒๅฆŠๅจ ๅˆๆœŸใซ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๆ„ŸๆŸ“ใ—ใ€ใ‚ฆใ‚คใƒซใ‚นใŒ่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‡บ็”Ÿๅ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃ่ดใ€็™ฝๅ†…้šœใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใ‚’็ท็งฐใ—ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค๏ผˆcongenital rubella syndrome๏ผšCRS๏ผ‰ใจๅ‘ผใถใ€‚่‚่„พ็จฎใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็™บ่‚ฒ้šœๅฎณใชใฉใ‚‚็”Ÿใ˜ใ‚‹ใ€‚้ขจ็–นใฎๆต่กŒๆœŸใŒๆ˜ฅใ‹ใ‚‰ๅˆๅคใงใ‚ใ‚‹ใŸใ‚ใ€CRSๅ…ใฏ็ง‹ใ‹ใ‚‰ๅ†ฌใซ็”Ÿใพใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ„ŸๆŸ“็—‡ๆณ•๏ผˆ2012ๅนดๆ›ดๆ–ฐ๏ผ‰ใงใฏใ€CRSใฏๅ…จๆ•ฐๅ ฑๅ‘Šๅฏพ่ฑก๏ผˆ5้กžๆ„ŸๆŸ“็—‡๏ผ‰ใงใ‚ใ‚Šใ€ๅŒปๅธซใฏ่จบๆ–ญๅพŒ7ๆ—ฅไปฅๅ†…ใซไฟๅฅๆ‰€ใซๅฑŠใ‘ๅ‡บใชใ‘ใ‚Œใฐใชใ‚‰ใชใ„ใ€‚ + NANDO:2200890 + congenital rubella syndrome + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค - + ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค - - 41 - ๅคšใใฏๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใŒๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŠนๆžœ็š„ใชๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใŠใ‚‰ใšใ€ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ้›ฃ่ดใ‚„็™บ้”้šœๅฎณใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ - 2200891 - + + 41 + ๅคšใใฏๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใŒๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŠนๆžœ็š„ใชๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใŠใ‚‰ใšใ€ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ้›ฃ่ดใ‚„็™บ้”้šœๅฎณใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2200891 + Congenital cytomegalovirus infection + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใจใ‚ใŒใ‚ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - + + ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ - - 42 - ๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ™ใงใซๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ€ ้ซ˜ใ„ๅŠนๆžœใ‚’ๆŒใกๅฎ‰ๅ…จใซๆŠ•ไธŽใงใใ‚‹่–ฌ็‰ฉๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ่ฆ–ๅŠ›้šœๅฎณใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ - 2200892 - + + 42 + ๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ™ใงใซๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ€ ้ซ˜ใ„ๅŠนๆžœใ‚’ๆŒใกๅฎ‰ๅ…จใซๆŠ•ไธŽใงใใ‚‹่–ฌ็‰ฉๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ่ฆ–ๅŠ›้šœๅฎณใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ + NANDO:2200892 + Congenital toxoplasmosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใจใใใทใ‚‰ใšใพใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡ - + ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡ - - 7 - Aicardi-Goutiรจres็—‡ๅ€™็พค๏ผˆAGS๏ผ‰ใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๅนผๅฐ‘ๆœŸใฎๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„็•ฐๅธธใ€่‚่„พ่…ซใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใ„ใฃใŸๅ…ˆๅคฉๆ„ŸๆŸ“็—‡๏ผˆTORCH็—‡ๅ€™็พค๏ผ‰้กžไผผใฎ็—…ๅƒใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๅคšใใฎๆ‚ฃ่€…ใงใฏๆญฃๅธธ็™บ้”ใฎๆœŸ้–“ใฎๅพŒใซ้ก•ๅœจๅŒ–ใ™ใ‚‹ใชใฉใ€ใใฎ็™บ็—‡ๆ™‚ๆœŸใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๆ˜“ๅˆบๆฟ€ๆ€งใ€้–“ๆฌ ็š„ใช็„ก่Œๆ€ง็™บ็†ฑใ€้ ญไฝๆˆ้•ทใฎไฝŽไธ‹ใ€็™บ้”้€€่กŒใชใฉใซ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€ไบœๆ€ฅๆ€ง็™บ็—‡ใฎ้‡็—‡่„ณ็—‡ใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚็ด„4ๅ‰ฒใฎๆ‚ฃ่€…ใงๆ‰‹ๆŒ‡ใ€่ถณ่ถพใ€่€ณใชใฉใซๅ‡็˜กๆง˜ใฎ็šฎ่†š็—…ๅค‰ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใงใฏใ‚ˆใ‚Š่ปฝ็—‡ใช้žๅ…ธๅž‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚็–พๆ‚ฃ่ƒŒๆ™ฏใจใ—ใฆ่‡ชๅทฑๅ…็–ซๆ€งๆฉŸๅบใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๆฌก็ฌฌใซAGS้–ข้€ฃ้บไผๅญ็พคใฎ็•ฐๅธธใฏ่‡จๅบŠ็š„ใซๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ้šœๅฎณใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ - 2200893 - - Aicardi-Goutieres syndrome + + 7 + Aicardi-Goutiรจres็—‡ๅ€™็พค๏ผˆAGS๏ผ‰ใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๅนผๅฐ‘ๆœŸใฎๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„็•ฐๅธธใ€่‚่„พ่…ซใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใ„ใฃใŸๅ…ˆๅคฉๆ„ŸๆŸ“็—‡๏ผˆTORCH็—‡ๅ€™็พค๏ผ‰้กžไผผใฎ็—…ๅƒใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๅคšใใฎๆ‚ฃ่€…ใงใฏๆญฃๅธธ็™บ้”ใฎๆœŸ้–“ใฎๅพŒใซ้ก•ๅœจๅŒ–ใ™ใ‚‹ใชใฉใ€ใใฎ็™บ็—‡ๆ™‚ๆœŸใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๆ˜“ๅˆบๆฟ€ๆ€งใ€้–“ๆฌ ็š„ใช็„ก่Œๆ€ง็™บ็†ฑใ€้ ญไฝๆˆ้•ทใฎไฝŽไธ‹ใ€็™บ้”้€€่กŒใชใฉใซ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€ไบœๆ€ฅๆ€ง็™บ็—‡ใฎ้‡็—‡่„ณ็—‡ใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚็ด„4ๅ‰ฒใฎๆ‚ฃ่€…ใงๆ‰‹ๆŒ‡ใ€่ถณ่ถพใ€่€ณใชใฉใซๅ‡็˜กๆง˜ใฎ็šฎ่†š็—…ๅค‰ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใงใฏใ‚ˆใ‚Š่ปฝ็—‡ใช้žๅ…ธๅž‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚็–พๆ‚ฃ่ƒŒๆ™ฏใจใ—ใฆ่‡ชๅทฑๅ…็–ซๆ€งๆฉŸๅบใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๆฌก็ฌฌใซAGS้–ข้€ฃ้บไผๅญ็พคใฎ็•ฐๅธธใฏ่‡จๅบŠ็š„ใซๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ้šœๅฎณใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ + NANDO:2200893 + + Aicardi-Goutiรจres Syndrome + ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค - + - + AGS1 Aicardi-Goutieres็—‡ๅ€™็พค - Aicardi-Goutiรจres syndrome TREX1ๆฌ ๆ็—‡ - ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค - - 7 - 2200894 - + + 7 + NANDO:2200894 + Aicardi-Goutieres syndrome 2 RNASEH2Bๆฌ ๆ็—‡ + ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + AGS2 Aicardi-Goutiรจres syndrome 2 RNASEH2Bๆฌ ๆ็—‡ - - 7 - 2200895 - + + 7 + NANDO:2200895 + Aicardi-Goutieres syndrome 3 RNASEH2Cๆฌ ๆ็—‡ + ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใ—ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + AGS3 Aicardi-Goutiรจres syndrome 3 RNASEH2Cๆฌ ๆ็—‡ - - 7 - 2200896 - + + 7 + NANDO:2200896 + Aicardi-Goutieres syndrome 4a RNASEH2Aๆฌ ๆ็—‡ + ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + - + AGS4a Aicardi-Goutiรจres syndrome 4a + RNASEH2Aๆฌ ๆ็—‡ - - 7 - 2200897 - + + 7 + NANDO:2200897 + Aicardi-Goutieres syndrome 5 SAMHD1ๆฌ ๆ็—‡ + ใˆใ™ใˆใƒผใˆใ‚€ใˆใ„ใกใงใƒใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + AGS5 Aicardi-Goutiรจres syndrome 5 SAMHD1ๆฌ ๆ็—‡ - - 7 - 2200898 - + + 7 + NANDO:2200898 + ADAR1ๆฌ ๆ็—‡ Aicardi-Goutieres syndrome 6 + ใˆใƒผใงใƒใƒผใˆใƒผใ‚ใƒผใ‚‹1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† - + AGS6 Aicardi-Goutiรจres syndrome6 ADAR1ๆฌ ๆ็—‡ - - 1 - ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitisใ€€SSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใธใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ไบบใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡(progressive multifocal leukoencephalopathy PML)ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200899 - - subacute sclerosing panencephalitis + + 1 + ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitisใ€€SSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใธใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ไบบใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡(progressive multifocal leukoencephalopathy PML)ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200899 + + Subacute sclerosing panencephalitis + ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“ ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž + - - + SSPE ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž - - 80 - Rasmussen๏ผˆใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผ‰็—‡ๅ€™็พคใฏใ€1958ๅนดใซRasmussenใ‚‰ใŒๆ…ขๆ€ง้™ๅฑ€ๆ€ง่„ณ็‚Žใฎ็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹้›ฃๆฒปๆ€ง็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“ใฎ2็—‡ไพ‹ใ‚’ๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ“ใจใซๅง‹ใพใ‚Šใ€ใใฎๅพŒใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“๏ผˆepilepsia partialis continua: EPC๏ผ‰ใ‚’ๅซใ‚€ไธ€ๅดๆ€งใฎ็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“็™บไฝœใ€็‰‡้บป็—บใชใฉใฎ้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช้šœๅฎณใ€้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช่Ž็ธฎใ€ๆ…ขๆ€ง่„ณ็‚Žๅƒใชใฉใ‚’่ชใ‚ใ‚‹็—‡ไพ‹็พคใจใ—ใฆ็ขบ็ซ‹ใ—ใŸใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃ็›Ÿใซใ‚ˆใ‚‹ใ€1989ๅนดๅˆ†้กžใงใฏใ€Œๅฐๅ…ใฎๆ…ขๆ€ง้€ฒ่กŒๆ€งๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ€ใจใ•ใ‚Œใฆใ„ใŸใŒใ€2010ๅนดๆ–ฐๅˆ†้กžๆกˆใงใฏใ€ŒRasmussen็—‡ๅ€™็พคใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200900 - - Rasmussen encephalitis + + 80 + Rasmussen๏ผˆใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผ‰็—‡ๅ€™็พคใฏใ€1958ๅนดใซRasmussenใ‚‰ใŒๆ…ขๆ€ง้™ๅฑ€ๆ€ง่„ณ็‚Žใฎ็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹้›ฃๆฒปๆ€ง็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“ใฎ2็—‡ไพ‹ใ‚’ๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ“ใจใซๅง‹ใพใ‚Šใ€ใใฎๅพŒใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“๏ผˆepilepsia partialis continua: EPC๏ผ‰ใ‚’ๅซใ‚€ไธ€ๅดๆ€งใฎ็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“็™บไฝœใ€็‰‡้บป็—บใชใฉใฎ้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช้šœๅฎณใ€้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช่Ž็ธฎใ€ๆ…ขๆ€ง่„ณ็‚Žๅƒใชใฉใ‚’่ชใ‚ใ‚‹็—‡ไพ‹็พคใจใ—ใฆ็ขบ็ซ‹ใ—ใŸใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃ็›Ÿใซใ‚ˆใ‚‹ใ€1989ๅนดๅˆ†้กžใงใฏใ€Œๅฐๅ…ใฎๆ…ขๆ€ง้€ฒ่กŒๆ€งๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ€ใจใ•ใ‚Œใฆใ„ใŸใŒใ€2010ๅนดๆ–ฐๅˆ†้กžๆกˆใงใฏใ€ŒRasmussen็—‡ๅ€™็พคใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200900 + + Rasmussen's Encephalitis + ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“ ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž - + - + + Rasmussen Encephalitis Rasmussen่„ณ็‚Ž ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž - - 18 - ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใฏใ€ๆ—ฅๆœฌใง1990ๅนดไปฃๅพŒๅŠใ‹ใ‚‰่ช่ญ˜ใ•ใ‚Œๅง‹ใ‚ใŸๆ–ฐใ—ใ„็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡(AEFSCE)ใ€๏ผˆๅกฉ่ฆ‹, 2000ๅนด๏ผ‰ใ€ใ€Œไธกๅดๅ‰้ ญ่‘‰ใ‚’ไธปใจใ—ใฆ้šœๅฎณใ™ใ‚‹ไนณๅนผๅ…ๆ€ฅๆ€ง่„ณ็—‡(AIEF)ใ€๏ผˆYamanouchiใ‚‰, 2006๏ผ‰ใ€ใ€ŒไบŒ็›ธๆ€งใ‘ใ„ใ‚Œใ‚“ใจ้…็™บๆ€งๆ‹กๆ•ฃไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใ€๏ผˆTakanashiใ‚‰, 2006๏ผ‰ใชใฉ่ค‡ๆ•ฐใฎ็•ฐใชใ‚‹็—…ๅใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€2015ๅนดใซใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใ€ใจใ—ใฆๆŒ‡ๅฎš้›ฃ็—…ใซ่ชๅฎšใ•ใ‚ŒใŸใ€‚็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซใ€็—™ๆ”ฃใจ่„ณใฎๅ‚ทๅฎณใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ€ๅฐๅ…ใฎๆ€ฅๆ€ง่„ณ็—‡ใฎใ†ใกๆ—ฅๆœฌใงใฏๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅž‹ใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸ๏ผˆ็™บ็—‡๏ฝž็—™ๆ”ฃๅๅพฉๆœŸ๏ผ‰ใ‹ใ‚‰ไบœๆ€ฅๆ€งๆœŸ๏ผˆๅ›žๅพฉๆœŸ๏ผ‰ใซใ‹ใ‘ใฆใ€ไบŒ็›ธๆ€งใฎ่‡จๅบŠ็ตŒ้Ž๏ผˆๅˆ็™บๆ™‚ใฎๆœ‰็†ฑๆ™‚็—™ๆ”ฃ้‡็ฉใจ็ฌฌ๏ผ“๏ฝž๏ผ–็—…ๆ—ฅใฎ็„ฆ็‚น็™บไฝœ็พค็™บ๏ผ‰ใŠใ‚ˆใณ้ ญ้ƒจMRIๆ‹กๆ•ฃๅผท่ชฟ็”ปๅƒ๏ผˆ็ฌฌ๏ผ“๏ฝž๏ผ™็—…ๆ—ฅใฎๅคง่„ณ็šฎ่ณชไธ‹็™ฝ่ณชใฎๆ‹กๆ•ฃไฝŽไธ‹๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใซๅ…ฅใ‚‹ใจๅคšใใฎๆ‚ฃ่€…ใซใฆใ‚“ใ‹ใ‚“ใ€็Ÿฅ็š„้šœๅฎณใชใฉ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใŒๆฎ‹ใ‚Šใ€้‡็—‡ๆ‚ฃ่€…ใงใฏ็”Ÿๆถฏใซใ‚ใŸใ‚Š็ถšใใ€‚็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใฏๅฐๅ…ใฎๅพŒๅคฉ็š„่„ณ้šœๅฎณใฎไธป่ฆใชๅŽŸๅ› ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ - 2200901 - + + 18 + ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใฏใ€ๆ—ฅๆœฌใง1990ๅนดไปฃๅพŒๅŠใ‹ใ‚‰่ช่ญ˜ใ•ใ‚Œๅง‹ใ‚ใŸๆ–ฐใ—ใ„็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡(AEFSCE)ใ€๏ผˆๅกฉ่ฆ‹, 2000ๅนด๏ผ‰ใ€ใ€Œไธกๅดๅ‰้ ญ่‘‰ใ‚’ไธปใจใ—ใฆ้šœๅฎณใ™ใ‚‹ไนณๅนผๅ…ๆ€ฅๆ€ง่„ณ็—‡(AIEF)ใ€๏ผˆYamanouchiใ‚‰, 2006๏ผ‰ใ€ใ€ŒไบŒ็›ธๆ€งใ‘ใ„ใ‚Œใ‚“ใจ้…็™บๆ€งๆ‹กๆ•ฃไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใ€๏ผˆTakanashiใ‚‰, 2006๏ผ‰ใชใฉ่ค‡ๆ•ฐใฎ็•ฐใชใ‚‹็—…ๅใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€2015ๅนดใซใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใ€ใจใ—ใฆๆŒ‡ๅฎš้›ฃ็—…ใซ่ชๅฎšใ•ใ‚ŒใŸใ€‚็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซใ€็—™ๆ”ฃใจ่„ณใฎๅ‚ทๅฎณใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ€ๅฐๅ…ใฎๆ€ฅๆ€ง่„ณ็—‡ใฎใ†ใกๆ—ฅๆœฌใงใฏๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅž‹ใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸ๏ผˆ็™บ็—‡๏ฝž็—™ๆ”ฃๅๅพฉๆœŸ๏ผ‰ใ‹ใ‚‰ไบœๆ€ฅๆ€งๆœŸ๏ผˆๅ›žๅพฉๆœŸ๏ผ‰ใซใ‹ใ‘ใฆใ€ไบŒ็›ธๆ€งใฎ่‡จๅบŠ็ตŒ้Ž๏ผˆๅˆ็™บๆ™‚ใฎๆœ‰็†ฑๆ™‚็—™ๆ”ฃ้‡็ฉใจ็ฌฌ๏ผ“๏ฝž๏ผ–็—…ๆ—ฅใฎ็„ฆ็‚น็™บไฝœ็พค็™บ๏ผ‰ใŠใ‚ˆใณ้ ญ้ƒจMRIๆ‹กๆ•ฃๅผท่ชฟ็”ปๅƒ๏ผˆ็ฌฌ๏ผ“๏ฝž๏ผ™็—…ๆ—ฅใฎๅคง่„ณ็šฎ่ณชไธ‹็™ฝ่ณชใฎๆ‹กๆ•ฃไฝŽไธ‹๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใซๅ…ฅใ‚‹ใจๅคšใใฎๆ‚ฃ่€…ใซใฆใ‚“ใ‹ใ‚“ใ€็Ÿฅ็š„้šœๅฎณใชใฉ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใŒๆฎ‹ใ‚Šใ€้‡็—‡ๆ‚ฃ่€…ใงใฏ็”Ÿๆถฏใซใ‚ใŸใ‚Š็ถšใใ€‚็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใฏๅฐๅ…ใฎๅพŒๅคฉ็š„่„ณ้šœๅฎณใฎไธป่ฆใชๅŽŸๅ› ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ + NANDO:2200901 + Acute encephalopathy with biphasic seizures and late reduced diffusion + ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ† ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡ - + AESD - ไบŒ็›ธๆ€งๆ€ฅๆ€ง่„ณ็—‡ + ็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡ ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡ - - 19 - ๆ€ฅๆ€งใ‹ไบœๆ€ฅๆ€ง็™บ็—‡(้€šๅธธ3ใ‹ๆœˆไปฅๅ†…)ใฎ่จ˜้Š˜ๅŠ›้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ€ๅ‚พ็œ ใ€ไบบๆ ผๅค‰ๅŒ–ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๆ„่ญ˜้šœๅฎณ็ญ‰ใ‚’ๅ‘ˆใ—ใ€็—‡็Šถใฏๅค‰ๅ‹•ใ™ใ‚‹ใ€‚ๆ˜็กใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‚Ž็—‡ใŒ้ทๅปถใ—ใ€ๆ…ขๆ€งใซใฆใ‚“ใ‹ใ‚“็™บไฝœใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็ตŒ้Žไธญ็™บ็†ฑ็ญ‰ใฎๆ„ŸๆŸ“ๅพดๅ€™ใ‚’ไผดใ‚ใชใ„ๅ ดๅˆใ€่‡ชๅทฑๅ…็–ซๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ใ‚’็–‘ใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่‡ชๅพ‹็ฅž็ตŒ็—‡็Šถ(ๅพช็’ฐๅ™จ็—‡็Šถใ€ๅ‘ผๅธๅ™จ็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€็ซ‹ๆฏ›ใ€ๆ„Ÿ่ฆš็—‡็Šถ็ญ‰)ใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ๅฐ่„ณ็—‡็Šถใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸๆฒป็™‚ใŒๅฅๅŠŸใ—ไบˆๅพŒ่‰ฏๅฅฝใช็พคใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€งๆœŸใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใ‚‚่ช็ŸฅๆฉŸ่ƒฝใ€้‹ๅ‹•ๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’ๆฎ‹ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใจ่–ฌๅ‰คๆŠตๆŠ—ๆ€งใซใ‚ใ‚‹ใ„ใฏ้•ทๆœŸใซ็ตŒ้Žใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200902 - + + 19 + ๆ€ฅๆ€งใ‹ไบœๆ€ฅๆ€ง็™บ็—‡(้€šๅธธ3ใ‹ๆœˆไปฅๅ†…)ใฎ่จ˜้Š˜ๅŠ›้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ€ๅ‚พ็œ ใ€ไบบๆ ผๅค‰ๅŒ–ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๆ„่ญ˜้šœๅฎณ็ญ‰ใ‚’ๅ‘ˆใ—ใ€็—‡็Šถใฏๅค‰ๅ‹•ใ™ใ‚‹ใ€‚ๆ˜็กใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‚Ž็—‡ใŒ้ทๅปถใ—ใ€ๆ…ขๆ€งใซใฆใ‚“ใ‹ใ‚“็™บไฝœใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็ตŒ้Žไธญ็™บ็†ฑ็ญ‰ใฎๆ„ŸๆŸ“ๅพดๅ€™ใ‚’ไผดใ‚ใชใ„ๅ ดๅˆใ€่‡ชๅทฑๅ…็–ซๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ใ‚’็–‘ใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่‡ชๅพ‹็ฅž็ตŒ็—‡็Šถ(ๅพช็’ฐๅ™จ็—‡็Šถใ€ๅ‘ผๅธๅ™จ็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€็ซ‹ๆฏ›ใ€ๆ„Ÿ่ฆš็—‡็Šถ็ญ‰)ใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ๅฐ่„ณ็—‡็Šถใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸๆฒป็™‚ใŒๅฅๅŠŸใ—ไบˆๅพŒ่‰ฏๅฅฝใช็พคใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€งๆœŸใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใ‚‚่ช็ŸฅๆฉŸ่ƒฝใ€้‹ๅ‹•ๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’ๆฎ‹ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใจ่–ฌๅ‰คๆŠตๆŠ—ๆ€งใซใ‚ใ‚‹ใ„ใฏ้•ทๆœŸใซ็ตŒ้Žใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200902 + Autoimmune encephalitis - ่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Ž + ใ˜ใ“ใ‚ใ‚“ใˆใใ‹ใ„ใ–ใ„ใ›ใ„ใฎใ†ใˆใ‚“ใƒปใฎใ†ใ—ใ‚‡ใ† + ่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ - - Autoimmune encephalopathy - ่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็—‡ + - ่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Ž + ่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ - - 63 - ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž acute encephalitis with refractory, repetitive partial seizures (AERRPS) ใฏๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ้ƒจๅˆ†็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่„ณ็‚Žใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑ๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Šใ‘ใ„ใ‚Œใ‚“ใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใŸใ‚ใ€ๅŒปๅญฆ็š„ใฎใฟใชใ‚‰ใš็คพไผš็š„่ฆ‹ๅœฐใ‹ใ‚‰ใ‚‚้‡่ฆ–ใ™ในใ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200903 - + + 63 + ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž acute encephalitis with refractory, repetitive partial seizures (AERRPS) ใฏๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ้ƒจๅˆ†็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่„ณ็‚Žใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑ๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Šใ‘ใ„ใ‚Œใ‚“ใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใŸใ‚ใ€ๅŒปๅญฆ็š„ใฎใฟใชใ‚‰ใš็คพไผš็š„่ฆ‹ๅœฐใ‹ใ‚‰ใ‚‚้‡่ฆ–ใ™ในใ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200903 + acute encephalitis with refractory, repetitive partial seizures + ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“ ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž - + - + AERRPS ้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž - - 59 - ๅคš็™บๆ€ง็กฌๅŒ–็—‡multiple sclerosis๏ผˆ๏ผญ๏ผณ๏ผ‰ใฏไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ—ใ‹ใ—MRIใ‚’ๆ’ฎๅƒใ™ใ‚‹ใจใ€ๅฎŸ้š›ใซใฏ็—‡็Šถใ‚’ๅ‡บใ—ใŸ็—…ๅทฃใฎไฝ•ๅ€ใ‚‚ใฎๆ•ฐใฎ็‚Ž็—‡ๆ€ง่„ฑ้ซ„็—…ๅทฃใŒไธญๆžข็ฅž็ตŒ็ต„็น”ใซๅ‡บ็พใ—ใฆใ„ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎ็‚นใ‚’่ธใพใˆใฆๆ”น่จ‚ใ•ใ‚ŒใŸ2010ๅนด็‰ˆMcDonald่จบๆ–ญๅŸบๆบ–ใงใฏใ€MRIๆ‰€่ฆ‹ใŒ้‡่ฆ–ใ•ใ‚Œใ€ใ•ใ‚‰ใซ้€ ๅฝฑMRIใ‚’็”จใ„ใ‚‹ใ“ใจใง๏ผ‘ๅ›žใฎๆคœๆŸปใงใ‚‚่จบๆ–ญใŒๅฏ่ƒฝใชใปใฉใซ็ฐกไพฟใงๆœ‰็”จใชใ‚‚ใฎใจใชใฃใฆใ„ใ‚‹ใ€‚ใŸใ ใ—ใ€ๆœฌ่จบๆ–ญๅŸบๆบ–ใฏใ€่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใปใผ็ขบๅฎŸใช็—‡ไพ‹ใซใคใ„ใฆใ€ใชใ‚‹ในใๆ—ฉๆœŸใซMSใจใ—ใฆใฎ็ขบๅฎš่จบๆ–ญใ‚’่กŒใชใ†ใŸใ‚ใซไฝœๆˆใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใŸใ‚ใ€โ€จๅๅˆ†ใซไป–็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ไฝœๆฅญใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ“ใจใฏใ€ๅพ“ๆฅใจๅค‰ใ‚ใ‚ŠใŒใชใ„ใ€‚ใจใ“ใ‚ใงใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฏใ€ๅพ“ๆฅใ€่ฆ–็ฅž็ตŒ่„Š้ซ„ๅž‹MS๏ผˆopticospinal MS๏ผšOSMS๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ใใฎไธญใซใฏ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆneuromyelitis optica๏ผšNMO๏ผ‰็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆฌง็ฑณไบบใซๅคšใใ€่ฆ–็ฅž็ตŒใ‚„่„Š้ซ„ใฎใฟใชใ‚‰ใšๅคง่„ณใ‚„ๅฐ่„ณใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹MSใฏ้€šๅธธๅž‹MS๏ผˆconventional MS๏ผšCMS๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 2200904 - + + 59 + ๅคš็™บๆ€ง็กฌๅŒ–็—‡multiple sclerosis๏ผˆ๏ผญ๏ผณ๏ผ‰ใฏไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ—ใ‹ใ—MRIใ‚’ๆ’ฎๅƒใ™ใ‚‹ใจใ€ๅฎŸ้š›ใซใฏ็—‡็Šถใ‚’ๅ‡บใ—ใŸ็—…ๅทฃใฎไฝ•ๅ€ใ‚‚ใฎๆ•ฐใฎ็‚Ž็—‡ๆ€ง่„ฑ้ซ„็—…ๅทฃใŒไธญๆžข็ฅž็ตŒ็ต„็น”ใซๅ‡บ็พใ—ใฆใ„ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎ็‚นใ‚’่ธใพใˆใฆๆ”น่จ‚ใ•ใ‚ŒใŸ2010ๅนด็‰ˆMcDonald่จบๆ–ญๅŸบๆบ–ใงใฏใ€MRIๆ‰€่ฆ‹ใŒ้‡่ฆ–ใ•ใ‚Œใ€ใ•ใ‚‰ใซ้€ ๅฝฑMRIใ‚’็”จใ„ใ‚‹ใ“ใจใง๏ผ‘ๅ›žใฎๆคœๆŸปใงใ‚‚่จบๆ–ญใŒๅฏ่ƒฝใชใปใฉใซ็ฐกไพฟใงๆœ‰็”จใชใ‚‚ใฎใจใชใฃใฆใ„ใ‚‹ใ€‚ใŸใ ใ—ใ€ๆœฌ่จบๆ–ญๅŸบๆบ–ใฏใ€่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใปใผ็ขบๅฎŸใช็—‡ไพ‹ใซใคใ„ใฆใ€ใชใ‚‹ในใๆ—ฉๆœŸใซMSใจใ—ใฆใฎ็ขบๅฎš่จบๆ–ญใ‚’่กŒใชใ†ใŸใ‚ใซไฝœๆˆใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใŸใ‚ใ€ๅๅˆ†ใซไป–็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ไฝœๆฅญใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ“ใจใฏใ€ๅพ“ๆฅใจๅค‰ใ‚ใ‚ŠใŒใชใ„ใ€‚ใจใ“ใ‚ใงใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฏใ€ๅพ“ๆฅใ€่ฆ–็ฅž็ตŒ่„Š้ซ„ๅž‹MS๏ผˆopticospinal MS๏ผšOSMS๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ใใฎไธญใซใฏ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆneuromyelitis optica๏ผšNMO๏ผ‰็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆฌง็ฑณไบบใซๅคšใใ€่ฆ–็ฅž็ตŒใ‚„่„Š้ซ„ใฎใฟใชใ‚‰ใšๅคง่„ณใ‚„ๅฐ่„ณใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹MSใฏ้€šๅธธๅž‹MS๏ผˆconventional MS๏ผšCMS๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200904 + multiple sclerosis + ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† ๅคš็™บๆ€ง็กฌๅŒ–็—‡ - + - + + MS ๅคš็™บๆ€ง็กฌๅŒ–็—‡ - - 78 - ๅ†็™บๆ€งใพใŸใฏๆ…ขๆ€ง้€ฒ่กŒๆ€งใซๆœซๆขข็ฅž็ตŒใฎ่„ฑ้ซ„ใ‚’็”Ÿใ˜ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆ„Ÿ่ฆš้šœๅฎณใ‚’็คบใ™่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200905 - + + 78 + ๅ†็™บๆ€งใพใŸใฏๆ…ขๆ€ง้€ฒ่กŒๆ€งใซๆœซๆขข็ฅž็ตŒใฎ่„ฑ้ซ„ใ‚’็”Ÿใ˜ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆ„Ÿ่ฆš้šœๅฎณใ‚’็คบใ™่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200905 + Chronic inflammatory demyelinating polyneuropathy + ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“ ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž + - - + CIDP ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž - - 20 - ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMyasthenia gravis: MG๏ผ‰ใฏ็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎไฟกๅทไผ้”ใซ้–ขใ‚ใ‚‹่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใฃใฆ๏ผŒ็ฅž็ตŒ็ญ‹ใฎๅˆบๆฟ€ไผ้”ใŒ้šœๅฎณใ•ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽไธปใชๆจ™็š„ๆŠ—ๅŽŸใฏใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAcetylcholine receptor: AChR๏ผ‰ใงใ‚ใ‚‹ใŒ๏ผŒ็ญ‹็‰น็•ฐ็š„ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผŽ่‡จๅบŠ็—‡็Šถใฏ๏ผŒ้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹(ๆ˜“็–ฒๅŠดๆ€ง)๏ผŒๅค•ๆ–นใซ็—‡็ŠถใŒๆ†Žๆ‚ชใ™ใ‚‹(ๆ—ฅๅ†…ๅค‰ๅ‹•)ใ‚’็‰นๅพดใจใ™ใ‚‹๏ผŽ - 2200906 - + + 20 + ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMyasthenia gravis: MG๏ผ‰ใฏ็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎไฟกๅทไผ้”ใซ้–ขใ‚ใ‚‹่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใฃใฆ๏ผŒ็ฅž็ตŒ็ญ‹ใฎๅˆบๆฟ€ไผ้”ใŒ้šœๅฎณใ•ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽไธปใชๆจ™็š„ๆŠ—ๅŽŸใฏใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAcetylcholine receptor: AChR๏ผ‰ใงใ‚ใ‚‹ใŒ๏ผŒ็ญ‹็‰น็•ฐ็š„ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผŽ่‡จๅบŠ็—‡็Šถใฏ๏ผŒ้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹(ๆ˜“็–ฒๅŠดๆ€ง)๏ผŒๅค•ๆ–นใซ็—‡็ŠถใŒๆ†Žๆ‚ชใ™ใ‚‹(ๆ—ฅๅ†…ๅค‰ๅ‹•)ใ‚’็‰นๅพดใจใ™ใ‚‹๏ผŽ + NANDO:2200906 + myasthenia gravis + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† ้‡็—‡็ญ‹็„กๅŠ›็—‡ + - - + MG ้‡็—‡็ญ‹็„กๅŠ›็—‡ - - 28 - ไนณ็ณ–ไธ่€็—‡ใจใฏใ€ใƒŸใƒซใ‚ฏใซๅซใพใ‚Œใ‚‹็ณ–่ณชใงใ‚ใ‚‹ไนณ็ณ–ใ‚’ใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ™ใ‚‹ไนณ็ณ–ๅˆ†่งฃ้…ต็ด ๏ผˆใƒฉใ‚ฏใ‚ฟใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€ไนณ็ณ–ใ‚’ๆถˆๅŒ–ๅธๅŽใงใใšใ€่‘—ใ—ใ„ไธ‹็—ขใ‚„ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฎๅŽŸๅ› ใซใฏใ€ๅ…ˆๅคฉๆ€งใฎ้…ต็ด ๆฌ ๆใจไบŒๆฌกๆ€งใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ใŒใ‚ใ‚‹ใ€‚ใŸใ ใ—ใ€ๅ“บไนณ้กžใงใฏ็”ŸๅพŒไธ€ๅฎšๆœŸ้–“ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งใฏ้žๅธธใซ้ซ˜ใใ€ๆŽˆไนณๆœŸใ‚’้ŽใŽใ‚‹ใจๆดปๆ€งใŒ็”Ÿ็†็š„ใซไฝŽไธ‹ใ™ใ‚‹ใ€‚ใพใŸใ€ๆ„ŸๆŸ“ๆ€ง่…ธ็‚Žใชใฉใซใ‚ˆใ‚‹ไบŒๆฌก็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฏๅŽŸๅ‰‡ใจใ—ใฆ็”Ÿ็†็š„ๆดปๆ€งใƒฌใƒ™ใƒซใซๅ›žๅพฉใ™ใ‚‹ใŸใ‚ใ€ใ“ใ“ใง่ฟฐในใ‚‹ไนณ็ณ–ไธ่€็—‡ใฏๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใซๅŸบใฅใ็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚ - 2200907 - + + 28 + ไนณ็ณ–ไธ่€็—‡ใจใฏใ€ใƒŸใƒซใ‚ฏใซๅซใพใ‚Œใ‚‹็ณ–่ณชใงใ‚ใ‚‹ไนณ็ณ–ใ‚’ใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ™ใ‚‹ไนณ็ณ–ๅˆ†่งฃ้…ต็ด ๏ผˆใƒฉใ‚ฏใ‚ฟใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€ไนณ็ณ–ใ‚’ๆถˆๅŒ–ๅธๅŽใงใใšใ€่‘—ใ—ใ„ไธ‹็—ขใ‚„ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฎๅŽŸๅ› ใซใฏใ€ๅ…ˆๅคฉๆ€งใฎ้…ต็ด ๆฌ ๆใจไบŒๆฌกๆ€งใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ใŒใ‚ใ‚‹ใ€‚ใŸใ ใ—ใ€ๅ“บไนณ้กžใงใฏ็”ŸๅพŒไธ€ๅฎšๆœŸ้–“ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งใฏ้žๅธธใซ้ซ˜ใใ€ๆŽˆไนณๆœŸใ‚’้ŽใŽใ‚‹ใจๆดปๆ€งใŒ็”Ÿ็†็š„ใซไฝŽไธ‹ใ™ใ‚‹ใ€‚ใพใŸใ€ๆ„ŸๆŸ“ๆ€ง่…ธ็‚Žใชใฉใซใ‚ˆใ‚‹ไบŒๆฌก็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฏๅŽŸๅ‰‡ใจใ—ใฆ็”Ÿ็†็š„ๆดปๆ€งใƒฌใƒ™ใƒซใซๅ›žๅพฉใ™ใ‚‹ใŸใ‚ใ€ใ“ใ“ใง่ฟฐในใ‚‹ไนณ็ณ–ไธ่€็—‡ใฏๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใซๅŸบใฅใ็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚ + NANDO:2200907 + lactose intolerance + ใซใ‚…ใ†ใจใ†ใตใŸใ„ใ—ใ‚‡ใ† ไนณ็ณ–ไธ่€็—‡ - + ไนณ็ณ–ไธ่€็—‡ - - 25 - ่”—็ณ–ใƒปใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡๏ผˆCSID๏ผ‰ใฏใ€ไบŒ็ณ–้กžใงใ‚ใ‚‹่”—็ณ–ใจ้บฆ่Šฝ็ณ–ใ‚’่…ธใงๅˆ†่งฃใ™ใ‚‹้…ต็ด ใฎๅƒใใŒๆฌ ๆใ—ใŸใ‚Šใ€่‘—ใ—ใไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€่”—็ณ–ใ€้บฆ่Šฝ็ณ–ใ€ใŠใ‚ˆใณๆพฑ็ฒ‰ใ‚’ๅฐ่…ธใงๅˆ†่งฃใ—ใฆๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใšใ€็ ‚็ณ–ใ‚„ๆพฑ็ฒ‰ใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจๆฟ€ใ—ใ„ไธ‹็—ขใจ่…น้ƒจ่†จๆบ€ใ‚’ใใŸใ™ๅ…ˆๅคฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200908 - + + 25 + ่”—็ณ–ใƒปใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡๏ผˆCSID๏ผ‰ใฏใ€ไบŒ็ณ–้กžใงใ‚ใ‚‹่”—็ณ–ใจ้บฆ่Šฝ็ณ–ใ‚’่…ธใงๅˆ†่งฃใ™ใ‚‹้…ต็ด ใฎๅƒใใŒๆฌ ๆใ—ใŸใ‚Šใ€่‘—ใ—ใไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€่”—็ณ–ใ€้บฆ่Šฝ็ณ–ใ€ใŠใ‚ˆใณๆพฑ็ฒ‰ใ‚’ๅฐ่…ธใงๅˆ†่งฃใ—ใฆๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใšใ€็ ‚็ณ–ใ‚„ๆพฑ็ฒ‰ใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจๆฟ€ใ—ใ„ไธ‹็—ขใจ่…น้ƒจ่†จๆบ€ใ‚’ใใŸใ™ๅ…ˆๅคฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200908 + congenital sucrase-isomaltase deficiency + ใ—ใ‚‡ใจใ†ใ„ใใฐใใŒใจใ†ใถใ‚“ใ‹ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡ - + CSID ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡ - - 26 - ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธๅ…จ็—‡ใฏใ€ๅฐ่…ธไธŠ็šฎใ‹ใ‚‰ใƒ–ใƒ‰ใ‚ฆ็ณ–ใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใŠใ‚ˆใณใใ‚Œใ‚‰ใงๆง‹ๆˆใ•ใ‚Œใ‚‹ๅˆ†ๅญใ‚’ๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ใซใ€ๅ‡บ็”ŸๅพŒใฎๅ“บไนณ้–‹ๅง‹ใจใจใ‚‚ใซๆฟ€ใ—ใ„ไธ‹็—ขใŒใฏใ˜ใพใ‚Šใ€ๆ•ฐๆ—ฅใชใ„ใ—ๆ•ฐ้€ฑใฎใ†ใกใซ้‡็ฏคใช่„ฑๆฐดใ€ไฝŽ่ก€็ณ–ใ‚„ใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200909 - + + 26 + ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธๅ…จ็—‡ใฏใ€ๅฐ่…ธไธŠ็šฎใ‹ใ‚‰ใƒ–ใƒ‰ใ‚ฆ็ณ–ใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใŠใ‚ˆใณใใ‚Œใ‚‰ใงๆง‹ๆˆใ•ใ‚Œใ‚‹ๅˆ†ๅญใ‚’ๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ใซใ€ๅ‡บ็”ŸๅพŒใฎๅ“บไนณ้–‹ๅง‹ใจใจใ‚‚ใซๆฟ€ใ—ใ„ไธ‹็—ขใŒใฏใ˜ใพใ‚Šใ€ๆ•ฐๆ—ฅใชใ„ใ—ๆ•ฐ้€ฑใฎใ†ใกใซ้‡็ฏคใช่„ฑๆฐดใ€ไฝŽ่ก€็ณ–ใ‚„ใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200909 + glucose-galactose malabsorption + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚‹ใ“ใƒผใ™ใƒปใŒใ‚‰ใใจใƒผใ™ใใ‚…ใ†ใ—ใ‚…ใ†ใตใ‚Šใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡ - + GGM ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡ - - 24 - ๆœฌ็—‡ใฏใ€1969ๅนดHadornใ‚‰ใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใฏๅไบŒๆŒ‡่…ธใ€็ฉบ่…ธ็ฒ˜่†œใซๅญ˜ๅœจใ—ใ€ใƒˆใƒชใƒ—ใ‚ทใƒŽใ‚ฒใƒณใ‚’ๆดปๆ€งๅŒ–ใ—ใฆใƒˆใƒชใƒ—ใ‚ทใƒณใซใ™ใ‚‹ๅƒใใŒใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใซใŠใ„ใฆใฏใ€ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่›‹็™ฝ่ณชๅˆ†่งฃๆดปๆ€งใฎๅฎŒๅ…จใชๆฌ ๆใ‚’ๆฅใ™ใ€‚ - 2200910 - + + 24 + ๆœฌ็—‡ใฏใ€1969ๅนดHadornใ‚‰ใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใฏๅไบŒๆŒ‡่…ธใ€็ฉบ่…ธ็ฒ˜่†œใซๅญ˜ๅœจใ—ใ€ใƒˆใƒชใƒ—ใ‚ทใƒŽใ‚ฒใƒณใ‚’ๆดปๆ€งๅŒ–ใ—ใฆใƒˆใƒชใƒ—ใ‚ทใƒณใซใ™ใ‚‹ๅƒใใŒใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใซใŠใ„ใฆใฏใ€ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่›‹็™ฝ่ณชๅˆ†่งฃๆดปๆ€งใฎๅฎŒๅ…จใชๆฌ ๆใ‚’ๆฅใ™ใ€‚ + NANDO:2200910 + enterokinase deficiency + ใˆใ‚“ใฆใ‚ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - + ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ - - 23 - ๅ…ˆๅคฉๆ€งใฎใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅˆ†ๆณŒ่ƒฝใฎๆˆ็†Ÿ้…ๅปถใŒๅŽŸๅ› ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซใฏๅคš็ณ–้กžใฎๅธๅŽใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ“ใจใงใ€็™บ่‚ฒ้šœๅฎณใ‚„ใงใ‚“ใทใ‚“้ก†็ฒ’ใ‚’ๆททใ˜ใŸ็™บ้…ตๆ€งใฎไธ‹็—ขใ‚’ใใŸใ™ใ€‚ใƒชใƒ‘ใƒผใ‚ผใ‚„ใƒˆใƒชใƒ—ใ‚ทใƒณใชใฉไป–่†ต้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ‚‚ใฎใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๅฎถๆ—ๅ†…็™บ็”Ÿใ‚’่ชใ‚ใŸ่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ใฎๆˆไบบไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€็จ€ใงใฏใ‚ใ‚‹ใŒๆฐธ็ถš็š„ใช่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200911 - + + 23 + ๅ…ˆๅคฉๆ€งใฎใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅˆ†ๆณŒ่ƒฝใฎๆˆ็†Ÿ้…ๅปถใŒๅŽŸๅ› ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซใฏๅคš็ณ–้กžใฎๅธๅŽใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ“ใจใงใ€็™บ่‚ฒ้šœๅฎณใ‚„ใงใ‚“ใทใ‚“้ก†็ฒ’ใ‚’ๆททใ˜ใŸ็™บ้…ตๆ€งใฎไธ‹็—ขใ‚’ใใŸใ™ใ€‚ใƒชใƒ‘ใƒผใ‚ผใ‚„ใƒˆใƒชใƒ—ใ‚ทใƒณใชใฉไป–่†ต้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ‚‚ใฎใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๅฎถๆ—ๅ†…็™บ็”Ÿใ‚’่ชใ‚ใŸ่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ใฎๆˆไบบไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€็จ€ใงใฏใ‚ใ‚‹ใŒๆฐธ็ถš็š„ใช่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200911 + amylase deficiency + ใ‚ใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - + + ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ - - 30 - ๅ…ˆๅคฉๆ€งใฎใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€1964ๅนดใซSheldonใŒ2ๅฎถ็ณป4็—‡ไพ‹ใซใคใ„ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ€‚ๅ…ˆๅคฉ็š„ใซ่†ตใƒชใƒ‘ใƒผใ‚ผใฎใฟใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€็”ŸๅพŒ้–“ใ‚‚ใชใ่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Š้‡็ฏคใช่„‚่‚ชไพฟใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€ใƒชใƒ‘ใƒผใ‚ผใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใ‚ณใƒชใƒ‘ใƒผใ‚ผใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ไธก้…ต็ด ใ‚’ๅŒๆ™‚ใซๆฌ ๆใ—ใŸ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200912 - + + 30 + ๅ…ˆๅคฉๆ€งใฎใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€1964ๅนดใซSheldonใŒ2ๅฎถ็ณป4็—‡ไพ‹ใซใคใ„ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ€‚ๅ…ˆๅคฉ็š„ใซ่†ตใƒชใƒ‘ใƒผใ‚ผใฎใฟใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€็”ŸๅพŒ้–“ใ‚‚ใชใ่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Š้‡็ฏคใช่„‚่‚ชไพฟใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€ใƒชใƒ‘ใƒผใ‚ผใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใ‚ณใƒชใƒ‘ใƒผใ‚ผใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ไธก้…ต็ด ใ‚’ๅŒๆ™‚ใซๆฌ ๆใ—ใŸ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200912 + lipase deficiency + ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ + - + + ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ - - 29 - ่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžใฎๅพฎ็ตจๆฏ›ใŒ่…ธ็ฎก่…”ๅดใซๆญฃๅธธใซๅฑ€ๅœจใงใใชใ„ใŸใ‚ใซๅคง้‡ใฎๆฐดๆง˜ไธ‹็—ขใ‚’ใใŸใ—ใ€ๆฐดใ€้›ป่งฃ่ณชใ‚„้‡็‚ญ้…ธใฎๅ–ชๅคฑใจๆ „้คŠ็ด ใฎๅธๅŽ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๅ‹ข้บไผๆ€ง็–พๆ‚ฃใ€‚้›ปๅญ้ก•ๅพฎ้ก็š„ใซๅพฎ็ตจๆฏ›ใฎๅฏ†ๅบฆใŒ็–ŽใงไธˆใŒไฝŽใ„ใ“ใจใ‹ใ‚‰ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡๏ผˆcongenital microvillus atrophy๏ผ‰ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸใ€‚ - 2200913 - + + 29 + ่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžใฎๅพฎ็ตจๆฏ›ใŒ่…ธ็ฎก่…”ๅดใซๆญฃๅธธใซๅฑ€ๅœจใงใใชใ„ใŸใ‚ใซๅคง้‡ใฎๆฐดๆง˜ไธ‹็—ขใ‚’ใใŸใ—ใ€ๆฐดใ€้›ป่งฃ่ณชใ‚„้‡็‚ญ้…ธใฎๅ–ชๅคฑใจๆ „้คŠ็ด ใฎๅธๅŽ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๅ‹ข้บไผๆ€ง็–พๆ‚ฃใ€‚้›ปๅญ้ก•ๅพฎ้ก็š„ใซๅพฎ็ตจๆฏ›ใฎๅฏ†ๅบฆใŒ็–ŽใงไธˆใŒไฝŽใ„ใ“ใจใ‹ใ‚‰ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡๏ผˆcongenital microvillus atrophy๏ผ‰ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸใ€‚ + NANDO:2200913 + microvillus inclusion disease + ใณใ˜ใ‚…ใ†ใ‚‚ใ†ใตใ†ใซใ‚…ใ†ใŸใ„ใณใ‚‡ใ† ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—… - + ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—… - - 27 - 1961ๅนดใซWaldmannใ‚‰ใซใ‚ˆใ‚Šๆๅ”ฑใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚่…ธ็ฎกๅฃๅ†…ใฎใƒชใƒณใƒ‘็ฎกๅ†…ๅœงใŒไบข้€ฒใ—ใ€ใƒชใƒณใƒ‘็ฎกใฎๆ‹กๅผตใ‚„็ ด็ถปใ‚’ใใŸใ™ใ€‚ใใฎ็ตๆžœใ€ใƒชใƒณใƒ‘ๆถฒใจใจใ‚‚ใซ่›‹็™ฝๆˆๅˆ†ใŒ่…ธ็ฎกๅ†…ใธๆผๅ‡บใ—ไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ใใŸใ™ใ€‚ - 2200914 - + + 27 + 1961ๅนดใซWaldmannใ‚‰ใซใ‚ˆใ‚Šๆๅ”ฑใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚่…ธ็ฎกๅฃๅ†…ใฎใƒชใƒณใƒ‘็ฎกๅ†…ๅœงใŒไบข้€ฒใ—ใ€ใƒชใƒณใƒ‘็ฎกใฎๆ‹กๅผตใ‚„็ ด็ถปใ‚’ใใŸใ™ใ€‚ใใฎ็ตๆžœใ€ใƒชใƒณใƒ‘ๆถฒใจใจใ‚‚ใซ่›‹็™ฝๆˆๅˆ†ใŒ่…ธ็ฎกๅ†…ใธๆผๅ‡บใ—ไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ใใŸใ™ใ€‚ + NANDO:2200914 + Intestinal Lymphangiectasia + ใกใ‚‡ใ†ใ‚Šใ‚“ใฑใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† ่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡ - + ่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡ - - 39 - ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น(FAP)ใฏใ€APC้บไผๅญใฎ่ƒš็ดฐ่ƒžๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใ€ๅคง่…ธใฎๅคš็™บๆ€ง่…บ่…ซใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚‹ใจใปใผ100%ใฎ็—‡ไพ‹ใซๅคง่…ธ็™ŒใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ็™Œไปฅๅค–ใซใ‚‚ใ€ๆถˆๅŒ–็ฎกใ‚ใ‚‹ใ„ใฏใใฎไป–ใฎ่‡“ๅ™จใซๆง˜ใ€…ใช่…ซ็˜ๆ€งใŠใ‚ˆใณ้ž่…ซ็˜ๆ€งใฎ้šไผด็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ่…บ่…ซๆ€งใƒใ‚ทใƒใƒผใ‚ทใ‚นใซ่ปŸ้ƒจ่…ซ็˜ใ€้ชจ่…ซใ€ๆญฏ็‰™็•ฐๅธธใ€ใƒ‡ใ‚นใƒขใ‚คใƒ‰่…ซ็˜ใชใฉใ‚’ไผดใ†Gardner็—‡ๅ€™็พคใฏAPC้บไผๅญใฎ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€FAPใจๅŒไธ€็–พๆ‚ฃใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚APC้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ๅคง่…ธ็ทš่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใซ่„ณ่…ซ็˜๏ผˆไธปใซๅฐ่„ณใฎ้ซ„่Šฝ่…ซ๏ผ‰ใ‚’ไผดใ†Turcot็—‡ๅ€™็พค(type2)ใ‚‚FAPใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ - 2200915 - + + 39 + ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น(FAP)ใฏใ€APC้บไผๅญใฎ่ƒš็ดฐ่ƒžๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใ€ๅคง่…ธใฎๅคš็™บๆ€ง่…บ่…ซใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚‹ใจใปใผ100%ใฎ็—‡ไพ‹ใซๅคง่…ธ็™ŒใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ็™Œไปฅๅค–ใซใ‚‚ใ€ๆถˆๅŒ–็ฎกใ‚ใ‚‹ใ„ใฏใใฎไป–ใฎ่‡“ๅ™จใซๆง˜ใ€…ใช่…ซ็˜ๆ€งใŠใ‚ˆใณ้ž่…ซ็˜ๆ€งใฎ้šไผด็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ่…บ่…ซๆ€งใƒใ‚ทใƒใƒผใ‚ทใ‚นใซ่ปŸ้ƒจ่…ซ็˜ใ€้ชจ่…ซใ€ๆญฏ็‰™็•ฐๅธธใ€ใƒ‡ใ‚นใƒขใ‚คใƒ‰่…ซ็˜ใชใฉใ‚’ไผดใ†Gardner็—‡ๅ€™็พคใฏAPC้บไผๅญใฎ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€FAPใจๅŒไธ€็–พๆ‚ฃใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚APC้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ๅคง่…ธ็ทš่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใซ่„ณ่…ซ็˜๏ผˆไธปใซๅฐ่„ณใฎ้ซ„่Šฝ่…ซ๏ผ‰ใ‚’ไผดใ†Turcot็—‡ๅ€™็พค(type2)ใ‚‚FAPใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ + NANDO:2200915 + familial adenomatous polyposis + ใ‹ใžใใ›ใ„ใ›ใ‚“ใ—ใ‚…ใ›ใ„ใฝใ‚Šใฝใƒผใ—ใ™ ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น + - + FAP ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น - - 40 - ๅ…จๆถˆๅŒ–็ฎกใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใงใ‚ใ‚‹่‹ฅๅนดๆ€งใƒใƒชใƒผใƒ—ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ด„25๏ผ…ใฏๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใƒใƒชใƒผใƒ—ๆ•ฐใฏ5๏ฝž200ๅ€‹็จ‹ๅบฆใงใ‚ใ‚Šใ€็™บ็”Ÿ้ƒจไฝใ€ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…จๆถˆๅŒ–็ฎกๅž‹ใ€่ƒƒ้™ๅฑ€ๅž‹ใ€ๅคง่…ธ้™ๅฑ€ๅž‹ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200916 - + + 40 + ๅ…จๆถˆๅŒ–็ฎกใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใงใ‚ใ‚‹่‹ฅๅนดๆ€งใƒใƒชใƒผใƒ—ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ด„25๏ผ…ใฏๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใƒใƒชใƒผใƒ—ๆ•ฐใฏ5๏ฝž200ๅ€‹็จ‹ๅบฆใงใ‚ใ‚Šใ€็™บ็”Ÿ้ƒจไฝใ€ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…จๆถˆๅŒ–็ฎกๅž‹ใ€่ƒƒ้™ๅฑ€ๅž‹ใ€ๅคง่…ธ้™ๅฑ€ๅž‹ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200916 + Juvenile polyposis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใฝใ‚Šใฝใƒผใ—ใ™ ่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น - - - + ่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น - - 41 - ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พคใฏ้ฃŸ้“ใ‚’้™คใๅ…จๆถˆๅŒ–็ฎกใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใจๅฃๅ”‡ใ€ๅฃ่…”ใ€ๆŒ‡ๅฐ–้ƒจใ‚’ไธญๅฟƒใจใ™ใ‚‹็šฎ่†šใ€็ฒ˜่†œใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡่€…ใฎ็ด„50๏ผ…ใฏๅฎถๆ—ๆญดใŒใชใ„ๅญค็™บไพ‹ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใฏ็ฒ˜่†œไธŠ็šฎใฎ้Ž่ชค่…ซ็š„้Žๅฝขๆˆใ€็ฒ˜่†œ็ญ‹ๆฟใ‹ใ‚‰ใฎๅนณๆป‘็ญ‹็ทš็ถญๆŸใฎๆจนๆž็Šถๅข—็”ŸใŒ็‰นๅพดใงใ‚ใ‚Šใ€ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚นใƒใƒชใƒผใƒ—ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200917 - + + 41 + ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พคใฏ้ฃŸ้“ใ‚’้™คใๅ…จๆถˆๅŒ–็ฎกใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใจๅฃๅ”‡ใ€ๅฃ่…”ใ€ๆŒ‡ๅฐ–้ƒจใ‚’ไธญๅฟƒใจใ™ใ‚‹็šฎ่†šใ€็ฒ˜่†œใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡่€…ใฎ็ด„50๏ผ…ใฏๅฎถๆ—ๆญดใŒใชใ„ๅญค็™บไพ‹ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใฏ็ฒ˜่†œไธŠ็šฎใฎ้Ž่ชค่…ซ็š„้Žๅฝขๆˆใ€็ฒ˜่†œ็ญ‹ๆฟใ‹ใ‚‰ใฎๅนณๆป‘็ญ‹็ทš็ถญๆŸใฎๆจนๆž็Šถๅข—็”ŸใŒ็‰นๅพดใงใ‚ใ‚Šใ€ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚นใƒใƒชใƒผใƒ—ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200917 + Peutz-Jeghers syndrome + ใฝใ„ใคใƒปใ˜ใ‡ใŒใƒผใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค + - + Peutz-Jeghers็—‡ๅ€™็พค ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค - - 38 - ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พคใฏใ€็šฎ่†šใƒป็ฒ˜่†œใ€ๆถˆๅŒ–็ฎกใ€ไนณ่…บใ€็”ฒ็Šถ่…บใ€ไธญๆžข็ฅž็ตŒใ€ๆณŒๅฐฟ็”Ÿๆฎ–ๅ™จใชใฉใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€ง็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅทจ้ ญ็—‡ใ€้Ž่ชค่…ซๆ€งๅคง่…ธใƒใƒชใƒใƒผใ‚ทใ‚นใ€่„‚่‚ช่…ซใŠใ‚ˆใณ้™ฐ่ŒŽไบ€้ ญใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใƒใƒŠใƒคใƒณใƒปใƒฉใ‚คใƒชใƒผใƒปใƒซใƒใƒซใ‚ซใƒ็—‡ๅ€™็พค๏ผˆBannayan-Riley-Ruvalcaba syndrome๏ผŒไปฅไธ‹BRRS๏ผ‰ใฏๅ…ˆๅคฉๆ€งใฎ้‡็—‡ๅž‹ใจใ—ใฆๆ‰ฑใ†ใ€‚ - 2200918 - + + 38 + ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พคใฏใ€็šฎ่†šใƒป็ฒ˜่†œใ€ๆถˆๅŒ–็ฎกใ€ไนณ่…บใ€็”ฒ็Šถ่…บใ€ไธญๆžข็ฅž็ตŒใ€ๆณŒๅฐฟ็”Ÿๆฎ–ๅ™จใชใฉใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€ง็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅทจ้ ญ็—‡ใ€้Ž่ชค่…ซๆ€งๅคง่…ธใƒใƒชใƒใƒผใ‚ทใ‚นใ€่„‚่‚ช่…ซใŠใ‚ˆใณ้™ฐ่ŒŽไบ€้ ญใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใƒใƒŠใƒคใƒณใƒปใƒฉใ‚คใƒชใƒผใƒปใƒซใƒใƒซใ‚ซใƒ็—‡ๅ€™็พค๏ผˆBannayan-Riley-Ruvalcaba syndrome๏ผŒไปฅไธ‹BRRS๏ผ‰ใฏๅ…ˆๅคฉๆ€งใฎ้‡็—‡ๅž‹ใจใ—ใฆๆ‰ฑใ†ใ€‚ + NANDO:2200918 + Cowden syndrome + ใ‹ใ†ใงใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค - + Cowden็—‡ๅ€™็พค ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค - - 19 - ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค๏ผˆcyclic vomiting syndrome,CVS๏ผ‰ใฏๆ•ฐๆ—ฅ้–“ใฎๅ˜”ๅ็™บไฝœใ‚’ๅ‘จๆœŸ็š„ใซใใ‚Š่ฟ”ใ™ใŒ,้–“ๆฌ ๆœŸใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจ, ๆ•ฐๅนดใฎ็ตŒ้Žใซใ‚ˆใ‚Š่‡ช็„ถๆฒป็™’ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹.CVSใฏๅ…จใฆใฎไบบ็จฎใง่ฆ‹ใ‚‰ใ‚Œ,้ ปๅบฆใฏ็™ฝไบบใง2%ใจใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹.Liใ‚‰ใฏๅฐๅ…ใฎ็™บ็—‡ๅนด้ฝขใฏไธญๅคฎๅ€คใŒ4.8ๆญณใงๆœ€ๅฐ็™บ็—‡ๅนด้ฝขใฏ็”ŸๅพŒ6ๆ—ฅ,ๆˆไบบใฎ็™บ็—‡ๅนด้ฝขใฎไธญๅคฎๅ€คใฏ35ๆญณใงๆœ€้ซ˜้ฝขใฏ73ๆญณใงใ‚ใ‚Š,ๆ€งๅทฎใฏๅฐๅ…ใง57:43(ๅฅณ:็”ท),ๆˆไบบใงใฏ9:8(ๅฅณ:็”ท)ใจๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹1). - 2200919 - + + 19 + ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค๏ผˆcyclic vomiting syndrome,CVS๏ผ‰ใฏๆ•ฐๆ—ฅ้–“ใฎๅ˜”ๅ็™บไฝœใ‚’ๅ‘จๆœŸ็š„ใซใใ‚Š่ฟ”ใ™ใŒ,้–“ๆฌ ๆœŸใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจ, ๆ•ฐๅนดใฎ็ตŒ้Žใซใ‚ˆใ‚Š่‡ช็„ถๆฒป็™’ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹.CVSใฏๅ…จใฆใฎไบบ็จฎใง่ฆ‹ใ‚‰ใ‚Œ,้ ปๅบฆใฏ็™ฝไบบใง2%ใจใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹.Liใ‚‰ใฏๅฐๅ…ใฎ็™บ็—‡ๅนด้ฝขใฏไธญๅคฎๅ€คใŒ4.8ๆญณใงๆœ€ๅฐ็™บ็—‡ๅนด้ฝขใฏ็”ŸๅพŒ6ๆ—ฅ,ๆˆไบบใฎ็™บ็—‡ๅนด้ฝขใฎไธญๅคฎๅ€คใฏ35ๆญณใงๆœ€้ซ˜้ฝขใฏ73ๆญณใงใ‚ใ‚Š,ๆ€งๅทฎใฏๅฐๅ…ใง57:43(ๅฅณ:็”ท),ๆˆไบบใงใฏ9:8(ๅฅณ:็”ท)ใจๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹1). + NANDO:2200919 + Cyclic Vomiting Syndrome + ใ—ใ‚…ใ†ใใ›ใ„ใŠใ†ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค - + ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค - - 1 - ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใ—ใฐใ—ใฐใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅคง่…ธใฎๅŽŸๅ› ไธๆ˜Žใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐ็š„็‚Ž็—‡ใงใ€30ๆญณๆœชๆบ€ใฎๆˆไบบใซๅฅฝ็™บใ™ใ‚‹ใŒๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๆˆไบบใซใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆ€งไธ‹็—ขใ‚’ๆฅใŸใ—ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใชใ‚‹ใ€‚ๅฐๅ…ใฏ้€ฒ่กŒใŒๆ—ฉใใ€้‡็ฏคใชๅ…จๅคง่…ธ็‚Žๅž‹ใซ็งป่กŒใ—ใ‚„ใ™ใใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆŠตๆŠ—ๆ€งใŒๅคšใ„ใ€‚่ฟ‘ๅนดๅข—ๅŠ ๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚ - 2200920 - + + 1 + ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใ—ใฐใ—ใฐใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅคง่…ธใฎๅŽŸๅ› ไธๆ˜Žใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐ็š„็‚Ž็—‡ใงใ€30ๆญณๆœชๆบ€ใฎๆˆไบบใซๅฅฝ็™บใ™ใ‚‹ใŒๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๆˆไบบใซใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆ€งไธ‹็—ขใ‚’ๆฅใŸใ—ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใชใ‚‹ใ€‚ๅฐๅ…ใฏ้€ฒ่กŒใŒๆ—ฉใใ€้‡็ฏคใชๅ…จๅคง่…ธ็‚Žๅž‹ใซ็งป่กŒใ—ใ‚„ใ™ใใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆŠตๆŠ—ๆ€งใŒๅคšใ„ใ€‚่ฟ‘ๅนดๅข—ๅŠ ๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚ + NANDO:2200920 + Ulcerative colitis + ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž - - + - + - ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž - - 2 - ๆถˆๅŒ–็ฎกใฎ่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€็ต‚ๆœซๅ›ž่…ธใจๅคง่…ธใฎ็ฝนๆ‚ฃใŒๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€ๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ™ใ‚‹ใ€‚็‚Ž็—‡ใฏๆ€ฅๆ€งใพใŸใฏๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅฏ›่งฃใจๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่…ธ็ฒ˜่†œใ‹ใ‚‰่…ธ็ฎกๅ…จๅฑคใซๆณขๅŠใ™ใ‚‹็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ—ใ€ๆตฎ่…ซใ‚„ๆฝฐ็˜็—…ๅค‰ใŒๆ–‘็ŠถใซใพใŸใฏ็ทš็Šถใซ็™บ็”Ÿใ—ใ€่…ธ็ฎก็‹ญ็ช„ใ‚„็˜ปๅญ”ใชใฉใฎ็‰นๅพด็š„็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚็ฒ˜่†œๅ›บๆœ‰ๅฑคใซTNF-ฮฑใ‚’็”ฃ็”Ÿใ™ใ‚‹็ดฐ่ƒžใŒๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Š็‚Ž็—‡ใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ - 2200921 - - Crohn disease + + 2 + ๆถˆๅŒ–็ฎกใฎ่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€็ต‚ๆœซๅ›ž่…ธใจๅคง่…ธใฎ็ฝนๆ‚ฃใŒๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€ๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ™ใ‚‹ใ€‚็‚Ž็—‡ใฏๆ€ฅๆ€งใพใŸใฏๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅฏ›่งฃใจๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่…ธ็ฒ˜่†œใ‹ใ‚‰่…ธ็ฎกๅ…จๅฑคใซๆณขๅŠใ™ใ‚‹็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ—ใ€ๆตฎ่…ซใ‚„ๆฝฐ็˜็—…ๅค‰ใŒๆ–‘็ŠถใซใพใŸใฏ็ทš็Šถใซ็™บ็”Ÿใ—ใ€่…ธ็ฎก็‹ญ็ช„ใ‚„็˜ปๅญ”ใชใฉใฎ็‰นๅพด็š„็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚็ฒ˜่†œๅ›บๆœ‰ๅฑคใซTNF-ฮฑใ‚’็”ฃ็”Ÿใ™ใ‚‹็ดฐ่ƒžใŒๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Š็‚Ž็—‡ใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200921 + + Crohn's disease + ใใ‚ใƒผใ‚“ใณใ‚‡ใ† ใ‚ฏใƒญใƒผใƒณ็—… - - + - + Crohn็—… - ใ‚ฏใƒญใƒผใƒณ็—… - - 4 - 2200922 - + + 4 + NANDO:2200922 + Early-onset Inflammatory Bowel Disease + ใใ†ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใกใ‚‡ใ†ใ—ใฃใ‹ใ‚“ ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ - + + ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ - - 3 - ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใฃใฆ่…ธ็ฎกใŒ้šœๅฎณใ•ใ‚Œ๏ผŽ้›ฃๆฒปๆ€งไธ‹็—ข็—‡ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽUnsworthใ‚‰ใฏไปฅไธ‹ใฎ๏ผ”้ …็›ฎใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ—ใŸ๏ผŽ1. ้ฃŸ้คŒ็™‚ๆณ•ใƒปๅฎŒๅ…จ้™่„ˆๆ „้คŠใงๆ”นๅ–„ใ—ใชใ„ๆ…ขๆ€ง้›ฃๆฒปๆ€งไธ‹็—ข็—‡2. ๅไบŒๆŒ‡่…ธใƒปๅฐ่…ธ็”Ÿๆคœใง็ตจๆฏ›่Ž็ธฎ๏ผŒ็ฒ˜่†œๅ›บๆœ‰ๅฑคใธใฎๅ˜ๆ ธ็ดฐ่ƒžใƒปๅฝข่ณช็ดฐ่ƒžใ‚’ไธญๅฟƒใจใ—ใŸ็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹3. ๆญฃๅธธ่…ธ็ฎกใ‚’็”จใ„ใŸๅ…็–ซ็ต„็น”ๅญฆ็š„ๆ–นๆณ•ใง่ก€ๆธ…ไธญใซๆŠ—่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹๏ผŽใŸใ ใ—ๆ—ขใซๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑๆŠ—ๅŽŸ๏ผˆAIE-75, villin๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ้™ฝๆ€ง๏ผŽ4. ๆ˜Žใ‚‰ใ‹ใชๅ…็–ซไธๅ…จ็—‡ใŒใชใ„ใ—ใ‹ใ—ใใฎๅพŒ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฎไธป่ฆใชๅŸบ็คŽ็–พๆ‚ฃใงใ‚ใ‚‹โ€œๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ใ€่…ธ็–พๆ‚ฃใ‚’ไผดใ†ไผดๆ€งๅŠฃๆ€งๅ…็–ซ่ชฟ็ฏ€็•ฐๅธธ(immunedysregulation, polyendocrinopathy, enteropathy, X-linked;IPEX)็—‡ๅ€™็พคโ€ใฎ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใซใ„ใŸใ‚Š๏ผŒใ•ใ‚‰ใซใ“ใ‚ŒใŒๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใซๅˆ†้กžใ•ใ‚ŒใŸใ“ใจใ‹ใ‚‰๏ผŒไธŠ่จ˜้ …็›ฎใฎ1-3ใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ“ใจใŒๅˆ็†็š„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽIPEX็—‡ๅ€™็พคใฏFOXP3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใ‚’ไธป่ฆ็—‡ๅ€™ใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ๏ผ‘ๅž‹็ณ–ๅฐฟ็—…๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใชใฉๅคšๅฝฉใช่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’ๆฅใ™๏ผŽ - 2200923 - + + 3 + ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใฃใฆ่…ธ็ฎกใŒ้šœๅฎณใ•ใ‚Œ๏ผŽ้›ฃๆฒปๆ€งไธ‹็—ข็—‡ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽUnsworthใ‚‰ใฏไปฅไธ‹ใฎ๏ผ”้ …็›ฎใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ—ใŸ๏ผŽ1. ้ฃŸ้คŒ็™‚ๆณ•ใƒปๅฎŒๅ…จ้™่„ˆๆ „้คŠใงๆ”นๅ–„ใ—ใชใ„ๆ…ขๆ€ง้›ฃๆฒปๆ€งไธ‹็—ข็—‡2. ๅไบŒๆŒ‡่…ธใƒปๅฐ่…ธ็”Ÿๆคœใง็ตจๆฏ›่Ž็ธฎ๏ผŒ็ฒ˜่†œๅ›บๆœ‰ๅฑคใธใฎๅ˜ๆ ธ็ดฐ่ƒžใƒปๅฝข่ณช็ดฐ่ƒžใ‚’ไธญๅฟƒใจใ—ใŸ็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹3. ๆญฃๅธธ่…ธ็ฎกใ‚’็”จใ„ใŸๅ…็–ซ็ต„็น”ๅญฆ็š„ๆ–นๆณ•ใง่ก€ๆธ…ไธญใซๆŠ—่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹๏ผŽใŸใ ใ—ๆ—ขใซๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑๆŠ—ๅŽŸ๏ผˆAIE-75, villin๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ้™ฝๆ€ง๏ผŽ4. ๆ˜Žใ‚‰ใ‹ใชๅ…็–ซไธๅ…จ็—‡ใŒใชใ„ใ—ใ‹ใ—ใใฎๅพŒ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฎไธป่ฆใชๅŸบ็คŽ็–พๆ‚ฃใงใ‚ใ‚‹โ€œๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ใ€่…ธ็–พๆ‚ฃใ‚’ไผดใ†ไผดๆ€งๅŠฃๆ€งๅ…็–ซ่ชฟ็ฏ€็•ฐๅธธ(immunedysregulation, polyendocrinopathy, enteropathy, X-linked;IPEX)็—‡ๅ€™็พคโ€ใฎ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใซใ„ใŸใ‚Š๏ผŒใ•ใ‚‰ใซใ“ใ‚ŒใŒๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใซๅˆ†้กžใ•ใ‚ŒใŸใ“ใจใ‹ใ‚‰๏ผŒไธŠ่จ˜้ …็›ฎใฎ1-3ใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ“ใจใŒๅˆ็†็š„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽIPEX็—‡ๅ€™็พคใฏFOXP3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใ‚’ไธป่ฆ็—‡ๅ€™ใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ๏ผ‘ๅž‹็ณ–ๅฐฟ็—…๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใชใฉๅคšๅฝฉใช่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’ๆฅใ™๏ผŽ + NANDO:2200923 + autoimmune enteropathy + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใกใ‚‡ใ†ใ—ใ‚‡ใ† ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ - + IPEX็—‡ๅ€™็พค ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ - - 3 - 2200924 - + + 3 + NANDO:2200924 + IPEX syndrome IPEX็—‡ๅ€™็พค + ใ‚ใ„ใบใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + IPEX็—‡ๅ€™็พค IPEX็—‡ๅ€™็พค - - 33 - ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใ†ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ—ใ‹ใ—ใ€‚้›ฃๆฒปๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅ†…็ง‘็š„ๆฒป็™‚ใจใ—ใฆใฏๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€้‡็—‡ไพ‹ใงใฏๅ…ฅ้™ขใ€็ตถ้ฃŸใ€ๅฎŒๅ…จ้™่„ˆๆ „้คŠใŒๅฟ…่ฆใจใชใ‚‹ใ€‚่…ธ็ฎก็‹ญ็ช„ใซๅฏพใ—ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Š่ค‡ๆ•ฐๅ›žใฎๅฐ่…ธๅˆ‡้™คใซใ‚ˆใ‚Šใ€็Ÿญ่…ธ็—‡ใ‚’ใใŸใ—ใ†ใ‚‹ใ€‚ๅฐๅ…ไพ‹ใงใฏใ€ๆ „้คŠ้šœๅฎณใชใฉใงๆˆ้•ท็™บ้”ใซใ‚‚ๆ‚ชๅฝฑ้Ÿฟใ‚’ใใŸใ—ใ€้ฃŸไบ‹ๅˆถ้™ใ€ๅ…ฅ้™ขๆฒป็™‚ใชใฉใงใ€ๆ—ฅๅธธ็”Ÿๆดปใ€ๅญฆๆ ก็”Ÿๆดปใ€็คพไผš็”Ÿๆดปใ‚‚้šœๅฎณใ•ใ‚Œใ€ๆ‚ฃๅ…ใฎQOLใฏ่‘—ใ—ใ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ - 2200925 - + + 33 + ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใ†ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ—ใ‹ใ—ใ€‚้›ฃๆฒปๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅ†…็ง‘็š„ๆฒป็™‚ใจใ—ใฆใฏๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€้‡็—‡ไพ‹ใงใฏๅ…ฅ้™ขใ€็ตถ้ฃŸใ€ๅฎŒๅ…จ้™่„ˆๆ „้คŠใŒๅฟ…่ฆใจใชใ‚‹ใ€‚่…ธ็ฎก็‹ญ็ช„ใซๅฏพใ—ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Š่ค‡ๆ•ฐๅ›žใฎๅฐ่…ธๅˆ‡้™คใซใ‚ˆใ‚Šใ€็Ÿญ่…ธ็—‡ใ‚’ใใŸใ—ใ†ใ‚‹ใ€‚ๅฐๅ…ไพ‹ใงใฏใ€ๆ „้คŠ้šœๅฎณใชใฉใงๆˆ้•ท็™บ้”ใซใ‚‚ๆ‚ชๅฝฑ้Ÿฟใ‚’ใใŸใ—ใ€้ฃŸไบ‹ๅˆถ้™ใ€ๅ…ฅ้™ขๆฒป็™‚ใชใฉใงใ€ๆ—ฅๅธธ็”Ÿๆดปใ€ๅญฆๆ ก็”Ÿๆดปใ€็คพไผš็”Ÿๆดปใ‚‚้šœๅฎณใ•ใ‚Œใ€ๆ‚ฃๅ…ใฎQOLใฏ่‘—ใ—ใ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200925 + Chronic nonspecific multiple ulcers of the small intestine + ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ† ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ - + - + CEAS Chronic enteropathy associated with SLCO2A1 ้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ - - 17 - ่‚็ดฐ่ƒžใฎๆ€ฅ้€ŸใชๅฃŠๆญปใ‚ใ‚‹ใ„ใฏไปฃ่ฌๆฉŸ่ƒฝใฎ้šœๅฎณใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚Šใ€้‡็ฏคๅŒ–ใจใจใ‚‚ใซๅ‡ๅ›บ้šœๅฎณใ‚„ๆ„่ญ˜้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœฌ้‚ฆใงใฏๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถใ€Œ้›ฃๆฒปๆ€งใฎ่‚ใƒป่ƒ†้“็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใ€็ญ๏ผˆๆŒ็”ฐ็ญ๏ผ‰ใฎ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกๆ€ฅๆ€ง่‚ไธๅ…จใ‚’ใƒปๆญฃๅธธ่‚ใชใ„ใ—่‚ๆฉŸ่ƒฝใŒๆญฃๅธธใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹่‚ใซใƒป่‚้šœๅฎณใŒ็”Ÿใ˜ๅˆ็™บ็—‡็Šถๅ‡บ็พใ‹ใ‚‰8้€ฑไปฅๅ†…ใซใƒป้ซ˜ๅบฆใฎ่‚ๆฉŸ่ƒฝ้šœๅฎณใซๅŸบใคใ„ใฆใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆ™‚้–“ใŒ40%ไปฅไธ‹ใชใ„ใ—ใฏINRๅ€ค1.5ไปฅไธŠใ‚’็คบใ™ใ‚‚ใฎใ€€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใก่‚ๆ€งๆ˜็ก II ๅบฆไปฅไธŠใฎ่‚ๆ€ง่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ€Œๆ˜็กๅž‹ใ€ใงใ‚ใ‚‹ใ€‚ใ€€ใ—ใ‹ใ—ๅฐๅ…ใ€ใ“ใจใซไนณๅ…ใฎ่‚ๆ€ง่„ณ็—‡ใฏ่ฆณๅฏŸใซใ‚ˆใฃใฆๅˆคๅฎšใ™ใ‚‹ใ“ใจใŒๅฎนๆ˜“ใงใชใ„ใ€‚่ฟ‘ๅนดใฎๆฌง็ฑณใฎๅฐๅ…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏไบˆๅพŒใ‚’่งฃๆžใ—ใ€INRๅ€ค2.0ไปฅไธŠใงใ‚ใ‚Œใฐๆ„่ญ˜็Šถๆ…‹ใซใ‚ˆใ‚‰ใšๆ˜็กๅž‹ใจๅŒ็ญ‰ใจใ—ใฆๆ‰ฑใฃใฆใ„ใ‚‹ใ€‚ - 2200926 - + + 17 + ่‚็ดฐ่ƒžใฎๆ€ฅ้€ŸใชๅฃŠๆญปใ‚ใ‚‹ใ„ใฏไปฃ่ฌๆฉŸ่ƒฝใฎ้šœๅฎณใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚Šใ€้‡็ฏคๅŒ–ใจใจใ‚‚ใซๅ‡ๅ›บ้šœๅฎณใ‚„ๆ„่ญ˜้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœฌ้‚ฆใงใฏๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถใ€Œ้›ฃๆฒปๆ€งใฎ่‚ใƒป่ƒ†้“็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใ€็ญ๏ผˆๆŒ็”ฐ็ญ๏ผ‰ใฎ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกๆ€ฅๆ€ง่‚ไธๅ…จใ‚’ใƒปๆญฃๅธธ่‚ใชใ„ใ—่‚ๆฉŸ่ƒฝใŒๆญฃๅธธใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹่‚ใซใƒป่‚้šœๅฎณใŒ็”Ÿใ˜ๅˆ็™บ็—‡็Šถๅ‡บ็พใ‹ใ‚‰8้€ฑไปฅๅ†…ใซใƒป้ซ˜ๅบฆใฎ่‚ๆฉŸ่ƒฝ้šœๅฎณใซๅŸบใคใ„ใฆใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆ™‚้–“ใŒ40%ไปฅไธ‹ใชใ„ใ—ใฏINRๅ€ค1.5ไปฅไธŠใ‚’็คบใ™ใ‚‚ใฎใ€€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใก่‚ๆ€งๆ˜็ก II ๅบฆไปฅไธŠใฎ่‚ๆ€ง่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ€Œๆ˜็กๅž‹ใ€ใงใ‚ใ‚‹ใ€‚ใ€€ใ—ใ‹ใ—ๅฐๅ…ใ€ใ“ใจใซไนณๅ…ใฎ่‚ๆ€ง่„ณ็—‡ใฏ่ฆณๅฏŸใซใ‚ˆใฃใฆๅˆคๅฎšใ™ใ‚‹ใ“ใจใŒๅฎนๆ˜“ใงใชใ„ใ€‚่ฟ‘ๅนดใฎๆฌง็ฑณใฎๅฐๅ…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏไบˆๅพŒใ‚’่งฃๆžใ—ใ€INRๅ€ค2.0ไปฅไธŠใงใ‚ใ‚Œใฐๆ„่ญ˜็Šถๆ…‹ใซใ‚ˆใ‚‰ใšๆ˜็กๅž‹ใจๅŒ็ญ‰ใจใ—ใฆๆ‰ฑใฃใฆใ„ใ‚‹ใ€‚ + NANDO:2200926 + acute liver failure with hepatic coma + ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใตใœใ‚“๏ผˆใ“ใ‚“ใ™ใ„ใŒใŸ๏ผ‰ ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰ - + + ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰ - - 44 - ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใ‹ใ‚‰่‚ๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€็ต„็น”ๅญฆ็š„ใซ่‚่‡“ใŠใ‚ˆใณใ€่†ต่‡“ใ‚„ๅฟƒ่‡“ใชใฉใฎ็ถฒๅ†…็ณปไปฅๅค–ใฎ่ซธ่‡“ๅ™จใซ้‰„ๆฒˆ็€ใ‚’่ชใ‚ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‰„ไปฃ่ฌ็•ฐๅธธใซ่ตทๅ› ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏ็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ€‚ - 2200927 - - Neonatal Hemochromatosis + + 44 + ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใ‹ใ‚‰่‚ๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€็ต„็น”ๅญฆ็š„ใซ่‚่‡“ใŠใ‚ˆใณใ€่†ต่‡“ใ‚„ๅฟƒ่‡“ใชใฉใฎ็ถฒๅ†…็ณปไปฅๅค–ใฎ่ซธ่‡“ๅ™จใซ้‰„ๆฒˆ็€ใ‚’่ชใ‚ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‰„ไปฃ่ฌ็•ฐๅธธใซ่ตทๅ› ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏ็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ€‚ + NANDO:2200927 + + Neonatal hemochromatosis + ใ—ใ‚“ใ›ใ„ใ˜ใธใ‚‚ใใ‚ใพใจใƒผใ—ใ™ ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น - + + Neonatal haemochromatosis ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น - - 43 - ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่‚็–พๆ‚ฃใงใ€้บไผ็š„็ด ๅ› ใ‚‚้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹ใ€‚ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅฐๅ…ๆœŸAIHใซใฏๅฅฝ็™บๅนด้ฝขใฏใชใใ€ไนณๅ…ๆœŸใ‹ใ‚‰ใ‚ใ‚‰ใ‚†ใ‚‹ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅ…ธๅž‹ไพ‹ใงใฏๆŠ—ๆ ธๆŠ—ไฝ“ใ€ๆŠ—ๅนณๆป‘็ญ‹ๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“้™ฝๆ€งใ€IgG้ซ˜ๅ€คใชใฉใฎ็‰นๅพดใŒใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใงใฏ่‡ชๅทฑๆŠ—ไฝ“้™ฐๆ€งใ€IgGๆญฃๅธธไพ‹ใŒๅคšใใ€่จบๆ–ญใŒ้›ฃใ—ใ„ใ€‚ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใซใฏ็ต„็น”ๅญฆ็š„ใซ็ทš็ถญๅŒ–ใŒ่ปฝๅบฆใ‚‚ใ—ใใฏใฟใ‚‰ใ‚Œใชใ„ๆ€ฅๆ€ง่‚็‚ŽๆœŸใจ็ทš็ถญๅŒ–ใŒ้€ฒ่กŒใ—ใฆใŠใ‚Šๆ…ขๆ€ง่‚็‚ŽใŒๅŸบ็คŽใซใ‚ใ‚‹ๆ€ฅๆ€งๅข—ๆ‚ชๆœŸใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ - 2200928 - + + 43 + ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่‚็–พๆ‚ฃใงใ€้บไผ็š„็ด ๅ› ใ‚‚้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹ใ€‚ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅฐๅ…ๆœŸAIHใซใฏๅฅฝ็™บๅนด้ฝขใฏใชใใ€ไนณๅ…ๆœŸใ‹ใ‚‰ใ‚ใ‚‰ใ‚†ใ‚‹ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅ…ธๅž‹ไพ‹ใงใฏๆŠ—ๆ ธๆŠ—ไฝ“ใ€ๆŠ—ๅนณๆป‘็ญ‹ๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“้™ฝๆ€งใ€IgG้ซ˜ๅ€คใชใฉใฎ็‰นๅพดใŒใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใงใฏ่‡ชๅทฑๆŠ—ไฝ“้™ฐๆ€งใ€IgGๆญฃๅธธไพ‹ใŒๅคšใใ€่จบๆ–ญใŒ้›ฃใ—ใ„ใ€‚ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใซใฏ็ต„็น”ๅญฆ็š„ใซ็ทš็ถญๅŒ–ใŒ่ปฝๅบฆใ‚‚ใ—ใใฏใฟใ‚‰ใ‚Œใชใ„ๆ€ฅๆ€ง่‚็‚ŽๆœŸใจ็ทš็ถญๅŒ–ใŒ้€ฒ่กŒใ—ใฆใŠใ‚Šๆ…ขๆ€ง่‚็‚ŽใŒๅŸบ็คŽใซใ‚ใ‚‹ๆ€ฅๆ€งๅข—ๆ‚ชๆœŸใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200928 + Autoimmune hepatitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“ ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž - + - + AIH ่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž - - 42 - ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary sclerosing cholangitis, PSC๏ผ‰ใฏ่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใซ็ทš็ถญๆ€ง็‹ญ็ช„ใจๆ‹กๅผตใ‚’็”Ÿใ˜ใ‚‹ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใชใฉใฎ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ๏ผˆinflammatory bowel disease, IBD๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅ…็–ซ็•ฐๅธธใ‚„้บไผ็š„็ด ๅ› ใฎ้–ขไธŽใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅฐๅ…ใงใฏ่‡ชๅทฑๅ…็–ซ็พ่ฑกใŒๅผทใใฟใ‚‰ใ‚Œใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใจใฎ้‘‘ๅˆฅใŒ้›ฃใ—ใ„็—‡ไพ‹ใ‚„ใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใจใฎๅˆไฝตไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200929 - + + 42 + ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary sclerosing cholangitis, PSC๏ผ‰ใฏ่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใซ็ทš็ถญๆ€ง็‹ญ็ช„ใจๆ‹กๅผตใ‚’็”Ÿใ˜ใ‚‹ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใชใฉใฎ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ๏ผˆinflammatory bowel disease, IBD๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅ…็–ซ็•ฐๅธธใ‚„้บไผ็š„็ด ๅ› ใฎ้–ขไธŽใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅฐๅ…ใงใฏ่‡ชๅทฑๅ…็–ซ็พ่ฑกใŒๅผทใใฟใ‚‰ใ‚Œใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใจใฎ้‘‘ๅˆฅใŒ้›ฃใ—ใ„็—‡ไพ‹ใ‚„ใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใจใฎๅˆไฝตไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200929 + Primary sclerosing cholangitis + ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“ ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž + - - + PSC - ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž - - 16 - ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซใ‹ใ‘ใฆ่‚ๅค–่ƒ†็ฎกใŒ็ ดๅฃŠใ•ใ‚Œใ€ใพใŸใฏๆถˆๅคฑใ™ใ‚‹ใŸใ‚ใซ้–‰ๅกžๆ€ง้ป„็–ธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃๅ…ใฎ่‚ๅค–่ƒ†็ฎกใฏ็”Ÿๆฅใ‚ใ‚‹ใ„ใฏ็”ŸๅพŒใพใ‚‚ใชใใ‹ใ‚‰ๅฎŒๅ…จ้–‰ๅกžใ‚’ๆฅใŸใ—๏ผŒๆ”พ็ฝฎใ™ใ‚Œใฐ่ƒ†ๆฑๆ€ง่‚็กฌๅค‰ใธใจ้€ฒ่กŒใ—ใฆๆญปใซ่‡ณใ‚‹ใ€‚ๆ•‘ๅ‘ฝใฎใŸใ‚ใซใฏๅค–็ง‘็š„ๆ‰‹่ก“ใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ - 2200930 - + + 16 + ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซใ‹ใ‘ใฆ่‚ๅค–่ƒ†็ฎกใŒ็ ดๅฃŠใ•ใ‚Œใ€ใพใŸใฏๆถˆๅคฑใ™ใ‚‹ใŸใ‚ใซ้–‰ๅกžๆ€ง้ป„็–ธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃๅ…ใฎ่‚ๅค–่ƒ†็ฎกใฏ็”Ÿๆฅใ‚ใ‚‹ใ„ใฏ็”ŸๅพŒใพใ‚‚ใชใใ‹ใ‚‰ๅฎŒๅ…จ้–‰ๅกžใ‚’ๆฅใŸใ—๏ผŒๆ”พ็ฝฎใ™ใ‚Œใฐ่ƒ†ๆฑๆ€ง่‚็กฌๅค‰ใธใจ้€ฒ่กŒใ—ใฆๆญปใซ่‡ณใ‚‹ใ€‚ๆ•‘ๅ‘ฝใฎใŸใ‚ใซใฏๅค–็ง‘็š„ๆ‰‹่ก“ใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ + NANDO:2200930 + biliary atresia + ใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† ่ƒ†้“้–‰้Ž–็—‡ + - - + + BA ่ƒ†้“้–‰้Ž–็—‡ - - 11 - ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹๏ผˆใพใŸใฏๅคๅ…ธ็š„๏ผ‰ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ3็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200931 - + + 11 + ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹๏ผˆใพใŸใฏๅคๅ…ธ็š„๏ผ‰ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ3็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200931 + Alagille syndrome + ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค - + - + Alagille็—‡ๅ€™็พค ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค - - 12 - ่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใจใฏใ€่‚็”Ÿๆคœใงๅฐ่‘‰้–“่ƒ†็ฎกใฎๆธ›ๅฐ‘ใ‚’่ชใ‚ใ€็”ปๅƒๆคœๆŸปใชใฉใง่‚ๅค–่ƒ†็ฎกใซใฏ้–‰้Ž–ใŒใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚่‚ๅค–ๅˆไฝต็—‡ใ‚’ใ‚‚ใค็—‡ๅ€™ๆ€งใฎAlagille็—‡ๅ€™็พคใฏ้™คๅค–ใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่‚ๅค–็—…ๅค‰ใฎใชใ„ใ‚‚ใฎใ‚’ใ€Œ้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใ€ใจๅ‘ผใถใ€‚ - 2200932 - + + 12 + ่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใจใฏใ€่‚็”Ÿๆคœใงๅฐ่‘‰้–“่ƒ†็ฎกใฎๆธ›ๅฐ‘ใ‚’่ชใ‚ใ€็”ปๅƒๆคœๆŸปใชใฉใง่‚ๅค–่ƒ†็ฎกใซใฏ้–‰้Ž–ใŒใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚่‚ๅค–ๅˆไฝต็—‡ใ‚’ใ‚‚ใค็—‡ๅ€™ๆ€งใฎAlagille็—‡ๅ€™็พคใฏ้™คๅค–ใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่‚ๅค–็—…ๅค‰ใฎใชใ„ใ‚‚ใฎใ‚’ใ€Œ้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใ€ใจๅ‘ผใถใ€‚ + NANDO:2200932 + Non-syndromic paucity of intrahepatic bile duct + ใ‹ใ‚“ใชใ„ใŸใ‚“ใ‹ใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ - + + ้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ ่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ - - 13 - ้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡(Progressive familial intrahepatic cholestasis ; PFIC)ใฏใ€ไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅฎถๆ—ๆ€งใฎ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚็‰นๅพดใจใ—ใฆใฏใ€็พๅœจใพใงใซ3็จฎ้กžใฎ็•ฐใชใ‚‹้บไผๅญ็•ฐๅธธใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚ŒใซๅŸบใฅใ„ใฆ1-3ๅž‹ใฎ3็—…ๅž‹(PFIC1-3)ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€PFIC1, 2ใงใฏ่ก€ๆธ…็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธใŠใ‚ˆใณASTใƒปALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ฮณGTPๅ€คใŒๆญฃๅธธใ‚‚ใ—ใใฏ่ปฝๅบฆ้ซ˜ๅ€คใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ„ใšใ‚Œใ‚‚ไนณๅ…ๆœŸใ‹ใ‚‰ๆ…ขๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžใ‚’ๅ‘ˆใ—ใ€้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใŒใ€PFIC1ใงใฏไธ‹็—ขใ€่†ตๆฉŸ่ƒฝไธๅ…จใ€้›ฃ่ดใชใฉ่‚ๅค–็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใฎใซๅฏพใ—ใ€PFIC2ใฏ็—‡็ŠถใŒ่‚ใซ้™ๅฑ€ใ™ใ‚‹ไธ€ๆ–นใงๆ—ฉๆœŸใซ่‚ไธๅ…จใŒ้€ฒ่กŒใ—ใ€ๆ™‚ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไฟๅญ˜็š„ๆฒป็™‚ใฎ็„กๅŠนไพ‹ใฏ่‚็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใŒใ€็งปๆคๅพŒใฎ็ตŒ้Žใฏ่‚ๅค–็—‡็Šถใฎๆœ‰็„กใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚PFIC3ใฏๆ—ฅๆœฌไบบใงใฏ็™บ็—‡ใŒๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200933 - + + 13 + ้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡(Progressive familial intrahepatic cholestasis ; PFIC)ใฏใ€ไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅฎถๆ—ๆ€งใฎ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚็‰นๅพดใจใ—ใฆใฏใ€็พๅœจใพใงใซ3็จฎ้กžใฎ็•ฐใชใ‚‹้บไผๅญ็•ฐๅธธใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚ŒใซๅŸบใฅใ„ใฆ1-3ๅž‹ใฎ3็—…ๅž‹(PFIC1-3)ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€PFIC1, 2ใงใฏ่ก€ๆธ…็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธใŠใ‚ˆใณASTใƒปALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ฮณGTPๅ€คใŒๆญฃๅธธใ‚‚ใ—ใใฏ่ปฝๅบฆ้ซ˜ๅ€คใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ„ใšใ‚Œใ‚‚ไนณๅ…ๆœŸใ‹ใ‚‰ๆ…ขๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžใ‚’ๅ‘ˆใ—ใ€้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใŒใ€PFIC1ใงใฏไธ‹็—ขใ€่†ตๆฉŸ่ƒฝไธๅ…จใ€้›ฃ่ดใชใฉ่‚ๅค–็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใฎใซๅฏพใ—ใ€PFIC2ใฏ็—‡็ŠถใŒ่‚ใซ้™ๅฑ€ใ™ใ‚‹ไธ€ๆ–นใงๆ—ฉๆœŸใซ่‚ไธๅ…จใŒ้€ฒ่กŒใ—ใ€ๆ™‚ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไฟๅญ˜็š„ๆฒป็™‚ใฎ็„กๅŠนไพ‹ใฏ่‚็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใŒใ€็งปๆคๅพŒใฎ็ตŒ้Žใฏ่‚ๅค–็—‡็Šถใฎๆœ‰็„กใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚PFIC3ใฏๆ—ฅๆœฌไบบใงใฏ็™บ็—‡ใŒๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200933 + progressive familial intrahepatic cholestasis + ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ† ้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ - + - + PFIC - ้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ - - 14 - ๅ…ˆๅคฉๆ€งใฎ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ใงใ‚ใฃใฆใ€่‚‰็œผใง่‚ๅ†…่ƒ†็ฎกใฎๅคš็™บๆ€งใƒปๅˆ†็ฏ€็Šถใƒปๅšข็Šถใฎๆ‹กๅผตใ‚’ใฟใ‚‹ใ‚‚ใฎใŒๅคๅ…ธ็š„ใงใ‚ใ‚‹ใ€‚ๆฌง็ฑณใงCaroli disease ใฏๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ—ใ€ไผดใ†ใ‚‚ใฎใฏCaroli syndrome ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใงใ‚ซใƒญใƒช(Caroli)็—…ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏCaroli syndromeใซ็›ธๅฝ“ใ—ใ€ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ†ใ‚‚ใฎใŒๅคง้ƒจๅˆ†ใงใ‚ใ‚‹ใ€‚ - 2200934 - + + 14 + ๅ…ˆๅคฉๆ€งใฎ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ใงใ‚ใฃใฆใ€่‚‰็œผใง่‚ๅ†…่ƒ†็ฎกใฎๅคš็™บๆ€งใƒปๅˆ†็ฏ€็Šถใƒปๅšข็Šถใฎๆ‹กๅผตใ‚’ใฟใ‚‹ใ‚‚ใฎใŒๅคๅ…ธ็š„ใงใ‚ใ‚‹ใ€‚ๆฌง็ฑณใงCaroli disease ใฏๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ—ใ€ไผดใ†ใ‚‚ใฎใฏCaroli syndrome ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใงใ‚ซใƒญใƒช(Caroli)็—…ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏCaroli syndromeใซ็›ธๅฝ“ใ—ใ€ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ†ใ‚‚ใฎใŒๅคง้ƒจๅˆ†ใงใ‚ใ‚‹ใ€‚ + NANDO:2200934 + Caroli Disease + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใฏใคใ‹ใ‚“ใชใ„ใŸใ‚“ใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ - + ใ‚ซใƒญใƒช็—… ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ - - 15 - ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ใฏ่‚ๅ†…่ƒ†็ฎกใ‚„่‚ๅค–่ƒ†็ฎกใ‚‚ใ—ใใฏไธกๆ–นใŒๆ‹กๅผตใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏๅ…ˆๅคฉ็š„ใช่ฆๅ› ใŒ่€ƒใˆใ‚‰ใ‚Œใ€ๅฐๅ…ใซๅคšใใ€็จ€ใซๆˆไบบใซใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹็š„ใชใ‚‚ใฎใฏ่‘—ใ—ใ„็ท่ƒ†็ฎกๆ‹กๅผตใŒใ‚ใ‚Šใ€ๅšข่…ซ็Šถใฎๆ‹กๅผตใ‚’็คบใ™ใ“ใจใ‚ˆใ‚Šใ€็ท่ƒ†็ฎกๅšข่…ซใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ - 2200935 - + + 15 + ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ใฏ่‚ๅ†…่ƒ†็ฎกใ‚„่‚ๅค–่ƒ†็ฎกใ‚‚ใ—ใใฏไธกๆ–นใŒๆ‹กๅผตใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏๅ…ˆๅคฉ็š„ใช่ฆๅ› ใŒ่€ƒใˆใ‚‰ใ‚Œใ€ๅฐๅ…ใซๅคšใใ€็จ€ใซๆˆไบบใซใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹็š„ใชใ‚‚ใฎใฏ่‘—ใ—ใ„็ท่ƒ†็ฎกๆ‹กๅผตใŒใ‚ใ‚Šใ€ๅšข่…ซ็Šถใฎๆ‹กๅผตใ‚’็คบใ™ใ“ใจใ‚ˆใ‚Šใ€็ท่ƒ†็ฎกๅšข่…ซใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200935 + congenital biliary dilatation + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ‚“ใฉใ†ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ - + ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ - - 10 - ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใฏใ€็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ไธ€่ฆ‹ใ™ใ‚‹ใจ่‚็กฌๅค‰ใซ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€ๅฐ่‘‰ใฎๆง‹็ฏ‰ใฏไฟใŸใ‚ŒใฆใŠใ‚Šใ€ๅ„้–€่„ˆๅŸŸ้–“ใ‚’้€ฃ็ตใ™ใ‚‹่‘—ๆ˜Žใช็ทš็ถญๅŒ–ใจ่‚ๅ†…่ƒ†็ฎกใฎๆ‹กๅผตใ€ใคใถใ‚ŒใŸ้–€่„ˆใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ - 2200936 - + + 10 + ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใฏใ€็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ไธ€่ฆ‹ใ™ใ‚‹ใจ่‚็กฌๅค‰ใซ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€ๅฐ่‘‰ใฎๆง‹็ฏ‰ใฏไฟใŸใ‚ŒใฆใŠใ‚Šใ€ๅ„้–€่„ˆๅŸŸ้–“ใ‚’้€ฃ็ตใ™ใ‚‹่‘—ๆ˜Žใช็ทš็ถญๅŒ–ใจ่‚ๅ†…่ƒ†็ฎกใฎๆ‹กๅผตใ€ใคใถใ‚ŒใŸ้–€่„ˆใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ + NANDO:2200936 + congenital hepatic fibrosis + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ„ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ - + CHF - ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ - - 9 - ่‚็กฌๅค‰ใฏๆ…ขๆ€ง่‚็–พๆ‚ฃใซใ‚ˆใ‚‹่‚็ดฐ่ƒžๅฃŠๆญปใŒ่‡ณใ‚‹็ต‚ๆœซๅƒใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซ่‚็ดฐ่ƒžใฎๅฃŠๆญปใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹ๅฐ่‘‰ๆ”น็ฏ‰ใ€ๅ†็”Ÿ็ต็ฏ€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚่‡“ใฎๅพช็’ฐ้šœๅฎณใจ่‚็ดฐ่ƒžใฎๆฅต็ซฏใชๆธ›ๅฐ‘ใŒๅŸบๆœฌ็š„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ - 2200937 - + + 9 + ่‚็กฌๅค‰ใฏๆ…ขๆ€ง่‚็–พๆ‚ฃใซใ‚ˆใ‚‹่‚็ดฐ่ƒžๅฃŠๆญปใŒ่‡ณใ‚‹็ต‚ๆœซๅƒใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซ่‚็ดฐ่ƒžใฎๅฃŠๆญปใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹ๅฐ่‘‰ๆ”น็ฏ‰ใ€ๅ†็”Ÿ็ต็ฏ€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚่‡“ใฎๅพช็’ฐ้šœๅฎณใจ่‚็ดฐ่ƒžใฎๆฅต็ซฏใชๆธ›ๅฐ‘ใŒๅŸบๆœฌ็š„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200937 + Liver Cirrhosis + ใ‹ใ‚“ใ“ใ†ใธใ‚“ใ—ใ‚‡ใ† ่‚็กฌๅค‰็—‡ - + ่‚็กฌๅค‰็—‡ - - 7 - ้–€่„ˆ่ก€ๆตใฎ็•ฐๅธธใซใฏใ€้–€่„ˆๅœงไบข้€ฒใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใจไผดใ†ใ‚‚ใฎใŒใ‚ใ‚Šใ€ไผดใ‚ใชใ„ใ‚‚ใฎใฏใ€Œ็ดฐๅˆ†้กž28. ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ใ€ใฎ้ …ใง่ฟฐในใฆใ„ใ‚‹ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใฏ้–€่„ˆๅœงใงๅฎš็พฉใ•ใ‚Œใ‚‹ใŒ่‡จๅบŠ็š„ใซใฏๅฟ…ใšใ—ใ‚‚ๅœงๆธฌๅฎšใ‚’่ฆใ•ใชใ„ใ€‚ใ€€้–€่„ˆๅœงไบข้€ฒ็—‡ใฎใ†ใกใ€่‚็กฌๅค‰ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใฏ้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆNon-cirrhotic portal hypertension, NCPH๏ผ‰ใงใ‚ใ‚‹1ใ€‚NCPHใฎใ†ใกใ€ๅฐๅ…ใงๅคšใ„ใ‚‚ใฎใฏ่‚ๅค–้–€่„ˆ้–‰ๅกž็—‡๏ผˆextrahepatic portal vein obstruction, EHPVO๏ผ‰ใงใ‚ใ‚‹ใ€‚่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใซใฏ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆidiopathic portal hypertension, IPHใพใŸใฏใƒใƒณใƒ๏ผˆBanti๏ผ‰็—‡ๅ€™็พค2๏ผ‰ใ€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ใ€€EHPVOใฏ่‚ๅ‰ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้–€้ƒจใ‚’ๅซใ‚€่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใŒใ‚ใฃใฆ้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใฃใŸ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่‚้–€้ƒจใซ็™บ้”ใ—ใŸๆฑ‚่‚ๆ€งๅดๅ‰ฏ่ก€่กŒ่ทฏใ‚’่ชใ‚ใ€ใ“ใ‚Œใ‚’ๆตท็ถฟ็Šถ่ก€็ฎกๅข—็”Ÿใจๅฝขๅฎนใ™ใ‚‹3, 4ใ€‚ใ€€IPHใฏ่‚ๅ†…ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚ๅ†…้–€่„ˆใฎๆœซๆขขใง้–‰ๅกžใƒป็‹ญ็ช„ใ‚’ใใŸใ—้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใงๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚็ต„็น”ๅญฆ็š„ใซ่‚ๅ†…้–€่„ˆใฎๆœซๆขขใซๆฝฐใ‚Œใƒป็‹ญๅฐๅŒ–ใƒป็กฌๅŒ–ๆ€งๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹3, 4ใ€‚ใ€€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใฏ่‚ๅพŒๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้™่„ˆไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใ‹ใ‚‰้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ๆŒ‡ใ™3, 4ใ€‚ใ€€ไปฅไธŠใฎใปใ‹ใซใ‚‚ๅธŒๅฐ‘ใงๅคšๅฝฉใช้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ - 2200938 - - portal hypertension + + 7 + ้–€่„ˆ่ก€ๆตใฎ็•ฐๅธธใซใฏใ€้–€่„ˆๅœงไบข้€ฒใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใจไผดใ†ใ‚‚ใฎใŒใ‚ใ‚Šใ€ไผดใ‚ใชใ„ใ‚‚ใฎใฏใ€Œ็ดฐๅˆ†้กž28. ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ใ€ใฎ้ …ใง่ฟฐในใฆใ„ใ‚‹ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใฏ้–€่„ˆๅœงใงๅฎš็พฉใ•ใ‚Œใ‚‹ใŒ่‡จๅบŠ็š„ใซใฏๅฟ…ใšใ—ใ‚‚ๅœงๆธฌๅฎšใ‚’่ฆใ•ใชใ„ใ€‚ใ€€้–€่„ˆๅœงไบข้€ฒ็—‡ใฎใ†ใกใ€่‚็กฌๅค‰ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใฏ้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆNon-cirrhotic portal hypertension, NCPH๏ผ‰ใงใ‚ใ‚‹1ใ€‚NCPHใฎใ†ใกใ€ๅฐๅ…ใงๅคšใ„ใ‚‚ใฎใฏ่‚ๅค–้–€่„ˆ้–‰ๅกž็—‡๏ผˆextrahepatic portal vein obstruction, EHPVO๏ผ‰ใงใ‚ใ‚‹ใ€‚่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใซใฏ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆidiopathic portal hypertension, IPHใพใŸใฏใƒใƒณใƒ๏ผˆBanti๏ผ‰็—‡ๅ€™็พค2๏ผ‰ใ€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ใ€€EHPVOใฏ่‚ๅ‰ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้–€้ƒจใ‚’ๅซใ‚€่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใŒใ‚ใฃใฆ้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใฃใŸ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่‚้–€้ƒจใซ็™บ้”ใ—ใŸๆฑ‚่‚ๆ€งๅดๅ‰ฏ่ก€่กŒ่ทฏใ‚’่ชใ‚ใ€ใ“ใ‚Œใ‚’ๆตท็ถฟ็Šถ่ก€็ฎกๅข—็”Ÿใจๅฝขๅฎนใ™ใ‚‹3, 4ใ€‚ใ€€IPHใฏ่‚ๅ†…ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚ๅ†…้–€่„ˆใฎๆœซๆขขใง้–‰ๅกžใƒป็‹ญ็ช„ใ‚’ใใŸใ—้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใงๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚็ต„็น”ๅญฆ็š„ใซ่‚ๅ†…้–€่„ˆใฎๆœซๆขขใซๆฝฐใ‚Œใƒป็‹ญๅฐๅŒ–ใƒป็กฌๅŒ–ๆ€งๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹3, 4ใ€‚ใ€€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใฏ่‚ๅพŒๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้™่„ˆไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใ‹ใ‚‰้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ๆŒ‡ใ™3, 4ใ€‚ใ€€ไปฅไธŠใฎใปใ‹ใซใ‚‚ๅธŒๅฐ‘ใงๅคšๅฝฉใช้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ + NANDO:2200938 + + Portal hypertension + ใ‚‚ใ‚“ใฟใ‚ƒใใ‚ใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ† ้–€่„ˆๅœงไบข้€ฒ็—‡ - + Banti syndrome - ้–€่„ˆๅœงไบข้€ฒ็—‡ - - 6 - ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡๏ผˆcongenital absence of the portal vein, CAPV๏ผ‰ใฏใ€ๅ…ˆๅคฉๆ€งใฎ้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š้–€่„ˆไฝŽๅฝขๆˆใพใŸใฏๆฌ ๆใซใ‚ˆใ‚Š้–€่„ˆ่ก€ๆตใŒ่‚ใ‚’ๅๅˆ†็Œๆตใ—ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚1793ๅนดใซAbernethyใŒๆœ€ๅˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹ใ€‚1990ๅนดไปฃใ‹ใ‚‰ๆ€ฅ้€Ÿใซ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใ€CAPVใจๅŒใ˜่ก€่กŒๅ‹•ๆ…‹ใจ็—‡็Šถใ‚’็คบใ™ใ€ๅคšๅฝฉใชๅ…ˆๅคฉๆ€ง้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital portosystemic shunt, CPSS๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็Ÿญ็ตก่ก€็ฎกใŒ่‚ๅค–ใซใ‚ใ‚‹ใ‹่‚ๅ†…ใซใ‚ใ‚‹ใ‹ใงๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‚ๅค–ใซใ‚ใ‚‹ๅ ดๅˆใฏๅ…ˆๅคฉๆ€ง่‚ๅค–้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital extrahepatic portosystemic shunt, CEPS๏ผ‰ใงใ‚ใ‚Šใ€CAPVใชใ„ใ—Abernethy malformationใ‚’ๅซใ‚€ใ€‚Morganใฏ1994ๅนดใซCAPVใ‚’Type Iใ€Type IIใจๅˆ†้กžใ—ใŸ1ใ€‚Howardใฏ1997ๅนดใซCEPSใ‚’Type 1 (End-to-side)ใ€Type 2 (Side-to-side) ใจๅˆ†้กžใ—ใฆใŠใ‚Š2ใ€ไธก่€…ใฏๆฆ‚ใญไธ€่‡ดใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎKobayashiใฎๅˆ†้กž3ใ‚‚็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚่‚ๅ†…ใซใ‚ใ‚‹ๅ ดๅˆใฏ่‚ๅ†…้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š1990ๅนดใซParkใŒ่จ˜่ฟฐใ—ใŸๅˆ†้กž4ใ‚’่ธ่ฅฒใ—ใ€Type 1ใ‹ใ‚‰Type 4ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚้™่„ˆ็ฎก้–‹ๅญ˜ใฏType 5 ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใฎ่‡จๅบŠ็ ”็ฉถใซใ‚ˆใ‚ŠๅฎŸ็”จ็š„ใชๅˆ†้กžใŒๅฏ่ƒฝใซใชใ‚Šใ€็—…ๅž‹ใจ่ก“ๅผใŠใ‚ˆใณไบˆๅพŒใ‚’้–ข้€ฃใฅใ‘ใŸBlancใฎๅˆ†้กž5ใ€้–‰ๅกž่ฉฆ้จ“ๆ™‚ใฎ้–€่„ˆๅœงใซใ‚ˆใ‚‹ๅˆ†้กž6, 7ใŒใ•ใ‚Œใ€่จบๆ–ญใจๆฒป็™‚ใŒ็ตใณใคใใ‚ˆใ†ใซใชใฃใฆๆฅใŸใ€‚ - 2200939 - + + 6 + ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡๏ผˆcongenital absence of the portal vein, CAPV๏ผ‰ใฏใ€ๅ…ˆๅคฉๆ€งใฎ้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š้–€่„ˆไฝŽๅฝขๆˆใพใŸใฏๆฌ ๆใซใ‚ˆใ‚Š้–€่„ˆ่ก€ๆตใŒ่‚ใ‚’ๅๅˆ†็Œๆตใ—ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚1793ๅนดใซAbernethyใŒๆœ€ๅˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹ใ€‚1990ๅนดไปฃใ‹ใ‚‰ๆ€ฅ้€Ÿใซ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใ€CAPVใจๅŒใ˜่ก€่กŒๅ‹•ๆ…‹ใจ็—‡็Šถใ‚’็คบใ™ใ€ๅคšๅฝฉใชๅ…ˆๅคฉๆ€ง้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital portosystemic shunt, CPSS๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็Ÿญ็ตก่ก€็ฎกใŒ่‚ๅค–ใซใ‚ใ‚‹ใ‹่‚ๅ†…ใซใ‚ใ‚‹ใ‹ใงๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‚ๅค–ใซใ‚ใ‚‹ๅ ดๅˆใฏๅ…ˆๅคฉๆ€ง่‚ๅค–้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital extrahepatic portosystemic shunt, CEPS๏ผ‰ใงใ‚ใ‚Šใ€CAPVใชใ„ใ—Abernethy malformationใ‚’ๅซใ‚€ใ€‚Morganใฏ1994ๅนดใซCAPVใ‚’Type Iใ€Type IIใจๅˆ†้กžใ—ใŸ1ใ€‚Howardใฏ1997ๅนดใซCEPSใ‚’Type 1 (End-to-side)ใ€Type 2 (Side-to-side) ใจๅˆ†้กžใ—ใฆใŠใ‚Š2ใ€ไธก่€…ใฏๆฆ‚ใญไธ€่‡ดใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎKobayashiใฎๅˆ†้กž3ใ‚‚็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚่‚ๅ†…ใซใ‚ใ‚‹ๅ ดๅˆใฏ่‚ๅ†…้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š1990ๅนดใซParkใŒ่จ˜่ฟฐใ—ใŸๅˆ†้กž4ใ‚’่ธ่ฅฒใ—ใ€Type 1ใ‹ใ‚‰Type 4ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚้™่„ˆ็ฎก้–‹ๅญ˜ใฏType 5 ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใฎ่‡จๅบŠ็ ”็ฉถใซใ‚ˆใ‚ŠๅฎŸ็”จ็š„ใชๅˆ†้กžใŒๅฏ่ƒฝใซใชใ‚Šใ€็—…ๅž‹ใจ่ก“ๅผใŠใ‚ˆใณไบˆๅพŒใ‚’้–ข้€ฃใฅใ‘ใŸBlancใฎๅˆ†้กž5ใ€้–‰ๅกž่ฉฆ้จ“ๆ™‚ใฎ้–€่„ˆๅœงใซใ‚ˆใ‚‹ๅˆ†้กž6, 7ใŒใ•ใ‚Œใ€่จบๆ–ญใจๆฒป็™‚ใŒ็ตใณใคใใ‚ˆใ†ใซใชใฃใฆๆฅใŸใ€‚ + NANDO:2200939 + Congenital Absence of Portal Vein + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ - + ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ - - 8 - ๅ…ˆๅคฉๆ€งใฎๅ‹•้™่„ˆ็˜ปใฎใ†ใกใ€่‚ๅ‹•่„ˆใจ้–€่„ˆ็ณปใฎใ‚ใ„ใ ใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใŸใ‚‚ใฎใ‚’่จ€ใ†ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใงๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ€‚ - 2200940 - + + 8 + ๅ…ˆๅคฉๆ€งใฎๅ‹•้™่„ˆ็˜ปใฎใ†ใกใ€่‚ๅ‹•่„ˆใจ้–€่„ˆ็ณปใฎใ‚ใ„ใ ใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใŸใ‚‚ใฎใ‚’่จ€ใ†ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใงๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ€‚ + NANDO:2200940 + Congenital Hepatoportal Arteriovenous Fistula + ใ‚‚ใ‚“ใฟใ‚ƒใใƒปใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚ใ† ้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป - + ้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป - - 18 - ้บไผๆ€งใฎ้žๆŠฑๅˆๅž‹้ซ˜ใƒ“ใƒชใƒซใƒ“ใƒณ่ก€็—‡ใฏใ€ใƒ“ใƒชใƒซใƒ“ใƒณUDP-ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธ่ปข็งป้…ต็ด ๏ผˆUGT1A1๏ผ‰ใซใ‚ˆใ‚‹ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆใŒ้šœๅฎณใ•ใ‚Œใฆ่ตทใใ‚‹ใ‚‚ใฎใจใ€ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆๅพŒใฎ่‚็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกใ€่ก€ๆธ…ใƒ“ใƒชใƒซใƒ“ใƒณๅ€คใŒ30-50๏ผˆmg/dl๏ผ‰ใจ้ซ˜ๅ€คใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใฎใŒใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค๏ผˆCN๏ผ‰ type Iใ€6-20๏ผˆmg/dl๏ผ‰ใงใ‚ใ‚‹ใ‚‚ใฎใŒtype IIใ€1-5๏ผˆmg/dl๏ผ‰็จ‹ๅบฆใพใงใงใ‚ใ‚‹ใ‚‚ใฎใŒGilbert็—‡ๅ€™็พค๏ผˆGS๏ผ‰ใงใ‚ใ‚‹1ใ€‚ - 2200941 - + + 18 + ้บไผๆ€งใฎ้žๆŠฑๅˆๅž‹้ซ˜ใƒ“ใƒชใƒซใƒ“ใƒณ่ก€็—‡ใฏใ€ใƒ“ใƒชใƒซใƒ“ใƒณUDP-ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธ่ปข็งป้…ต็ด ๏ผˆUGT1A1๏ผ‰ใซใ‚ˆใ‚‹ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆใŒ้šœๅฎณใ•ใ‚Œใฆ่ตทใใ‚‹ใ‚‚ใฎใจใ€ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆๅพŒใฎ่‚็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกใ€่ก€ๆธ…ใƒ“ใƒชใƒซใƒ“ใƒณๅ€คใŒ30-50๏ผˆmg/dl๏ผ‰ใจ้ซ˜ๅ€คใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใฎใŒใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค๏ผˆCN๏ผ‰ type Iใ€6-20๏ผˆmg/dl๏ผ‰ใงใ‚ใ‚‹ใ‚‚ใฎใŒtype IIใ€1-5๏ผˆmg/dl๏ผ‰็จ‹ๅบฆใพใงใงใ‚ใ‚‹ใ‚‚ใฎใŒGilbert็—‡ๅ€™็พค๏ผˆGS๏ผ‰ใงใ‚ใ‚‹1ใ€‚ + NANDO:2200941 + Crigler-Najjar syndrome + ใใ‚Šใใ‚‰ใƒผใƒปใชใ˜ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค - + Crigler-Najjar็—‡ๅ€™็พค ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค - - 31 - ้บไผๆ€ง่†ต็‚Žใจใฏใ€ๅบƒ็พฉใซใฏๅฎถ็ณปๅ†…ใซ2ไบบไปฅไธŠใฎๆ‚ฃ่€…ใŒใฟใ‚‰ใ‚Œใ‚‹่†ต็‚Ž๏ผˆๅฎถๆ—ๆ€ง่†ต็‚Ž๏ผ‰ใงใ‚ใฃใฆๅฐ‘ใชใใจใ‚‚๏ผ‘ไบบใซๆ—ข็Ÿฅใฎๆˆๅ› ใ‚’่ชใ‚ใชใ„ๅฎถ็ณปๅ†…้›†็ฉๆ€งใ‚’็คบใ™ๅ†็™บๆ€ง่†ต็‚Žใ‚„ๆ…ขๆ€ง่†ต็‚Žใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใ€้บไผๅญฆ็š„่จบๆ–ญๆ‰‹ๆณ•ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎๆ‚ฃ่€…ใงใฏPRSS1ใ‚„SPINK1้บไผๅญใชใฉใฎ้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใŸใ€‚ๅ‰่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒๅญค็™บไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ€ๅพŒ่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใจใ‹ใ‚‰่†ต็‚Žใฎๅฎถๆ—ๆญดใฏๅฟ…้ ˆใงใฏใชใ„ใ€‚ - 2200942 - + + 31 + ้บไผๆ€ง่†ต็‚Žใจใฏใ€ๅบƒ็พฉใซใฏๅฎถ็ณปๅ†…ใซ2ไบบไปฅไธŠใฎๆ‚ฃ่€…ใŒใฟใ‚‰ใ‚Œใ‚‹่†ต็‚Ž๏ผˆๅฎถๆ—ๆ€ง่†ต็‚Ž๏ผ‰ใงใ‚ใฃใฆๅฐ‘ใชใใจใ‚‚๏ผ‘ไบบใซๆ—ข็Ÿฅใฎๆˆๅ› ใ‚’่ชใ‚ใชใ„ๅฎถ็ณปๅ†…้›†็ฉๆ€งใ‚’็คบใ™ๅ†็™บๆ€ง่†ต็‚Žใ‚„ๆ…ขๆ€ง่†ต็‚Žใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใ€้บไผๅญฆ็š„่จบๆ–ญๆ‰‹ๆณ•ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎๆ‚ฃ่€…ใงใฏPRSS1ใ‚„SPINK1้บไผๅญใชใฉใฎ้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใŸใ€‚ๅ‰่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒๅญค็™บไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ€ๅพŒ่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใจใ‹ใ‚‰่†ต็‚Žใฎๅฎถๆ—ๆญดใฏๅฟ…้ ˆใงใฏใชใ„ใ€‚ + NANDO:2200942 + Hereditary Pancreatitis + ใ„ใงใ‚“ใ›ใ„ใ™ใ„ใˆใ‚“ ้บไผๆ€ง่†ต็‚Ž + - - + ้บไผๆ€ง่†ต็‚Ž - - 32 - ่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใจใฏใใฎ็™บ็—‡ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹่†ต็‚Žใงใ‚ใ‚‹๏ผŽ2002ๅนดใซๅˆใ‚ใฆใใฎ่จบๆ–ญๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œ๏ผŒใ“ใ‚Œใพใงใซๆˆไบบ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซๅคšใใฎ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใฆใ„ใ‚‹๏ผŽ่‡จๅบŠๅƒใŠใ‚ˆใณ็—…็†็ต„็น”ๅญฆ็š„ใช้•ใ„ใ‹ใ‚‰ใ€1ๅž‹ใจ2ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚1ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏใ€ใ—ใฐใ—ใฐ้–‰ๅกžๆ€ง้ป„็–ธใง็™บ็—‡ใ—ใ€็™บ็—‡ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใง็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ้ซ˜ๅบฆใชๆตธๆฝคใจ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚IgG4้–ข้€ฃ็–พๆ‚ฃใฎ่†ต็—…ๅค‰ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚2ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏๆฏ”่ผƒ็š„่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ใ—ใฐใ—ใฐ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€IgG4ไธŠๆ˜‡ใชใฉใฎ่ก€ๆธ…ๅญฆ็š„็•ฐๅธธๆ‰€่ฆ‹ใซไนใ—ใ„ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๅฅฝไธญ็ƒๆตธๆฝคใซใ‚ˆใ‚‹่†ต็ฎกไธŠ็šฎ็ ดๅฃŠๅƒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ€€1ๅž‹ใ€2ๅž‹ใจใ‚‚ใซใณใพใ‚“ๆ€ง่†ต่…ซๅคงใ€่†ต็ฎก็‹ญ็ดฐๅƒใชใฉใฎ็”ปๅƒๆ‰€่ฆ‹ใ‚’็‰นๅพดใจใ—ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ€‚1ๅž‹ใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ไพ‹ใฎ20-40%ใ€็ถญๆŒ็™‚ๆณ•ไธญใฎ20-30%ใซ่†ต็‚Žใฎๅ†็‡ƒใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้•ทๆœŸ็š„ใซใฏ่†ต่Ž็ธฎใ‚„่†ต็Ÿณใฎไฝต็™บใ‚’ไผดใ„่†ตๅค–ใƒปๅ†…ๅˆ†ๆณŒ้šœๅฎณใซ่‡ณใ‚‹ใ€‚2ๅž‹ใงใฏๅ†็‡ƒไพ‹ใฏๅฐ‘ใชใ„ใ€‚ - 2200943 - + + 32 + ่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใจใฏใใฎ็™บ็—‡ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹่†ต็‚Žใงใ‚ใ‚‹๏ผŽ2002ๅนดใซๅˆใ‚ใฆใใฎ่จบๆ–ญๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œ๏ผŒใ“ใ‚Œใพใงใซๆˆไบบ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซๅคšใใฎ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใฆใ„ใ‚‹๏ผŽ่‡จๅบŠๅƒใŠใ‚ˆใณ็—…็†็ต„็น”ๅญฆ็š„ใช้•ใ„ใ‹ใ‚‰ใ€1ๅž‹ใจ2ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚1ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏใ€ใ—ใฐใ—ใฐ้–‰ๅกžๆ€ง้ป„็–ธใง็™บ็—‡ใ—ใ€็™บ็—‡ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใง็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ้ซ˜ๅบฆใชๆตธๆฝคใจ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚IgG4้–ข้€ฃ็–พๆ‚ฃใฎ่†ต็—…ๅค‰ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚2ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏๆฏ”่ผƒ็š„่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ใ—ใฐใ—ใฐ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€IgG4ไธŠๆ˜‡ใชใฉใฎ่ก€ๆธ…ๅญฆ็š„็•ฐๅธธๆ‰€่ฆ‹ใซไนใ—ใ„ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๅฅฝไธญ็ƒๆตธๆฝคใซใ‚ˆใ‚‹่†ต็ฎกไธŠ็šฎ็ ดๅฃŠๅƒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ€€1ๅž‹ใ€2ๅž‹ใจใ‚‚ใซใณใพใ‚“ๆ€ง่†ต่…ซๅคงใ€่†ต็ฎก็‹ญ็ดฐๅƒใชใฉใฎ็”ปๅƒๆ‰€่ฆ‹ใ‚’็‰นๅพดใจใ—ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ€‚1ๅž‹ใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ไพ‹ใฎ20-40%ใ€็ถญๆŒ็™‚ๆณ•ไธญใฎ20-30%ใซ่†ต็‚Žใฎๅ†็‡ƒใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้•ทๆœŸ็š„ใซใฏ่†ต่Ž็ธฎใ‚„่†ต็Ÿณใฎไฝต็™บใ‚’ไผดใ„่†ตๅค–ใƒปๅ†…ๅˆ†ๆณŒ้šœๅฎณใซ่‡ณใ‚‹ใ€‚2ๅž‹ใงใฏๅ†็‡ƒไพ‹ใฏๅฐ‘ใชใ„ใ€‚ + NANDO:2200943 + Autoimmune pancreatitis + ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“ ่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž + - + ่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž - - 22 - ็Ÿญ่…ธ็—‡ใฏๅฐ่…ธใฎๅคง้‡ๅˆ‡้™คใซไผดใ†ๅธๅŽไธ่‰ฏใฎ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐ่…ธใฎ70-80%ใŒๅˆ‡้™คใ™ใ‚‹ใจๅŽณ้‡ใชๆ „้คŠ็ฎก็†ใ‚’่ฆใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใŠใ‘ใ‚‹็Ÿญ่…ธ็—‡ใฎๅŽŸๅ› ใจใ—ใฆใฏๅฃŠๆญปๆ€ง่…ธ็‚Žใ€ไธญ่…ธ่ปธๆป่ปขใ€ๅฐ่…ธ้–‰้Ž–ใชใฉๅ…ˆๅคฉๆ€ง่…ธ็–พๆ‚ฃใ‚„ๅค–ๅ‚ทใŒๅŽŸๅ› ใจใชใ‚‹ใ€‚ไธ‹็—ขใ€ไฝ“้‡ๆธ›ๅฐ‘ใ€่„ฑๆฐดใ€ๆ „้คŠ้šœๅฎณใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ€ๅฐๅ…ใงใฏใ—ใฐใ—ใฐๆˆ้•ท้šœๅฎณใซ้™ฅใ‚‹ใ€‚ - 2200944 - + + 22 + ็Ÿญ่…ธ็—‡ใฏๅฐ่…ธใฎๅคง้‡ๅˆ‡้™คใซไผดใ†ๅธๅŽไธ่‰ฏใฎ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐ่…ธใฎ70-80%ใŒๅˆ‡้™คใ™ใ‚‹ใจๅŽณ้‡ใชๆ „้คŠ็ฎก็†ใ‚’่ฆใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใŠใ‘ใ‚‹็Ÿญ่…ธ็—‡ใฎๅŽŸๅ› ใจใ—ใฆใฏๅฃŠๆญปๆ€ง่…ธ็‚Žใ€ไธญ่…ธ่ปธๆป่ปขใ€ๅฐ่…ธ้–‰้Ž–ใชใฉๅ…ˆๅคฉๆ€ง่…ธ็–พๆ‚ฃใ‚„ๅค–ๅ‚ทใŒๅŽŸๅ› ใจใชใ‚‹ใ€‚ไธ‹็—ขใ€ไฝ“้‡ๆธ›ๅฐ‘ใ€่„ฑๆฐดใ€ๆ „้คŠ้šœๅฎณใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ€ๅฐๅ…ใงใฏใ—ใฐใ—ใฐๆˆ้•ท้šœๅฎณใซ้™ฅใ‚‹ใ€‚ + NANDO:2200944 + Short Bowel Syndrome + ใŸใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ† ็Ÿญ่…ธ็—‡ - + ็Ÿญ่…ธ็—‡ - - 36 - ่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10%็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ - 2200945 - + + 36 + ่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10%็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ + NANDO:2200945 + Hirschsprung disease + ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - + - + Hirschsprung็—… - ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… - - 37 - ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinalใ€€Pseudo-ใ€€Obstruction๏ผšCIIP๏ผ‰ใฏใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซใ€่งฃๅ‰–ๅญฆ็š„ใช่…ธ็ฎกใฎ้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›ใ€่…ธ็ฎกๆ‹กๅผตใชใฉใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆPseudo-Obstruction๏ผ‰ใซใฏใ€Hirschsprung็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใฎใ‚ˆใ†ใซๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง(Primary)ใฎใ‚‚ใฎใจ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่† ๅŽŸ็—…ใ€ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃใชใฉใฎๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง (Secondary)ใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸ็™บ็—‡ใฎๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ (Chronic Intestinal Pseudo-Obstruction: CIPO)ใฎๅคšใใฏใ€็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใงใ‚ใ‚‹ใ€‚ - 2200946 - - chronic idiopathic intestinal pseudo-obstruction + + 37 + ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinalใ€€Pseudo-ใ€€Obstruction๏ผšCIIP๏ผ‰ใฏใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซใ€่งฃๅ‰–ๅญฆ็š„ใช่…ธ็ฎกใฎ้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›ใ€่…ธ็ฎกๆ‹กๅผตใชใฉใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆPseudo-Obstruction๏ผ‰ใซใฏใ€Hirschsprung็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใฎใ‚ˆใ†ใซๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง(Primary)ใฎใ‚‚ใฎใจ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่† ๅŽŸ็—…ใ€ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃใชใฉใฎๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง (Secondary)ใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸ็™บ็—‡ใฎๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ (Chronic Intestinal Pseudo-Obstruction: CIPO)ใฎๅคšใใฏใ€็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใงใ‚ใ‚‹ใ€‚ + NANDO:2200946 + + Chronic idiopathic intestinal pseudo-obstruction + ใพใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใŽใ›ใ„ใกใ‚‡ใ†ใธใ„ใใใ—ใ‚‡ใ† ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ - + - + + CIIP + ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ - - 34 - ๆœฌ็—‡ใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พคMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผˆไปฅไธ‹MMIHS๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏ็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ - 2200947 - - Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome + + 34 + ๆœฌ็—‡ใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พคMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผˆไปฅไธ‹MMIHS๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏ็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ + NANDO:2200947 + + Megacystis-microcolon-intestinal hypoperistalsis syndrome + ใใ‚‡ใ ใ„ใผใ†ใ“ใ†ใŸใ‚“ใ—ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ‚“ใœใ‚“ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ† ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡ - + + - + MMIHS ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡ - - 35 - ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ - 2200948 - + + 35 + ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚ + NANDO:2200948 + Congenital Isolated Hypoganglionosis + ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚“ใ‘ใ„ใ›ใคใ•ใ„ใผใ†ใใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ† ่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡ - + - + + ่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡ - - 5 - ่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€่ฟ‘ๅนดใฎๅ›ฝ้š›ๅˆ†้กž๏ผˆInternational Society for the Study of Vascular Anomalies (ISSVA)ๅˆ†้กž๏ผ‰ใงใฏใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใŒ็„ก็—‡็Šถใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงๆญปใซ่‡ณใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็„ก็—‡็Šถใฎๅฐใ•ใช่‚่ก€็ฎก่…ซใจใฏ็•ฐใชใ‚‹็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚Œใ€ๆฌก็ฌฌใซๆ”ฏๆŒใ‚’้›†ใ‚ใคใคใ‚ใ‚‹ใ€‚ๅฎŸ้š›ใซใฏใ“ใฎใ‚ˆใ†ใช้‡็ฏคใช็ตŒ้Žใ‚’ใจใ‚‹้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ้ ปๅบฆใฏ็จ€ใงใ€ๅนณๆˆ22ๅนดๅบฆใ‚ˆใ‚ŠๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ็ ”็ฉถ็ญใŒ็ต„็น”ใ•ใ‚Œใ€ๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšใฎ่ชๅฎšๆ–ฝ่จญใ‚’ๅฏพ่ฑกใซใ“ใ‚Œใพใงใซไฝ•ๅ›žใ‹ใฎ่ชฟๆŸปใŒ่กŒใ‚ใ‚Œใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฎ่‡จๅบŠ็—‡็Šถใ‚„ๆˆ‘ใŒๅ›ฝใฎๆฒป็™‚ๅฎŸๆ…‹ใŒ่ชฟในใ‚‰ใ‚ŒใŸใ€‚ใ“ใ‚Œใพใงใฎ่ชฟๆŸป็ตๆžœใงใฏ่‚ๅ†…ใซๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่ก€็ฎก่…ซใฎใ‚ใ‚‹ใ‚‚ใฎใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ใ“ใ†ใ—ใŸ็”ปๅƒๆ‰€่ฆ‹ใซๅŠ ใˆใฆๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใชใฉใฎ็—‡็Šถใฎใ‚ใ‚‹ใ‚‚ใฎใ‚’ๆ–ฐ็”Ÿๅ…ใƒปไนณๅนผๅ…ใฎใ€Œ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ€ใจ่จบๆ–ญใ—ใฆใ€ๅฑๆ€ฅ็š„ใช็—…ๆ…‹ใซๆณจๆ„ใ™ใ‚‹ใ‚ˆใ†ใซ่ญฆ้˜ใŒใชใ‚‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ - 2200949 - - giant hepatic haemangiomas + + 5 + ่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€่ฟ‘ๅนดใฎๅ›ฝ้š›ๅˆ†้กž๏ผˆInternational Society for the Study of Vascular Anomalies (ISSVA)ๅˆ†้กž๏ผ‰ใงใฏใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใŒ็„ก็—‡็Šถใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงๆญปใซ่‡ณใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็„ก็—‡็Šถใฎๅฐใ•ใช่‚่ก€็ฎก่…ซใจใฏ็•ฐใชใ‚‹็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚Œใ€ๆฌก็ฌฌใซๆ”ฏๆŒใ‚’้›†ใ‚ใคใคใ‚ใ‚‹ใ€‚ๅฎŸ้š›ใซใฏใ“ใฎใ‚ˆใ†ใช้‡็ฏคใช็ตŒ้Žใ‚’ใจใ‚‹้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ้ ปๅบฆใฏ็จ€ใงใ€ๅนณๆˆ22ๅนดๅบฆใ‚ˆใ‚ŠๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ็ ”็ฉถ็ญใŒ็ต„็น”ใ•ใ‚Œใ€ๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšใฎ่ชๅฎšๆ–ฝ่จญใ‚’ๅฏพ่ฑกใซใ“ใ‚Œใพใงใซไฝ•ๅ›žใ‹ใฎ่ชฟๆŸปใŒ่กŒใ‚ใ‚Œใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฎ่‡จๅบŠ็—‡็Šถใ‚„ๆˆ‘ใŒๅ›ฝใฎๆฒป็™‚ๅฎŸๆ…‹ใŒ่ชฟในใ‚‰ใ‚ŒใŸใ€‚ใ“ใ‚Œใพใงใฎ่ชฟๆŸป็ตๆžœใงใฏ่‚ๅ†…ใซๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่ก€็ฎก่…ซใฎใ‚ใ‚‹ใ‚‚ใฎใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ใ“ใ†ใ—ใŸ็”ปๅƒๆ‰€่ฆ‹ใซๅŠ ใˆใฆๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใชใฉใฎ็—‡็Šถใฎใ‚ใ‚‹ใ‚‚ใฎใ‚’ๆ–ฐ็”Ÿๅ…ใƒปไนณๅนผๅ…ใฎใ€Œ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ€ใจ่จบๆ–ญใ—ใฆใ€ๅฑๆ€ฅ็š„ใช็—…ๆ…‹ใซๆณจๆ„ใ™ใ‚‹ใ‚ˆใ†ใซ่ญฆ้˜ใŒใชใ‚‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ + NANDO:2200949 + + Giant hepatic hemangiomas + ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚… ่‚ๅทจๅคง่ก€็ฎก่…ซ - - critical infantile hepatic haemangioma + + Critical infantile hepatic haemangioma + Giant hepatic haemangiomas ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ + ่‚ๅทจๅคง่ก€็ฎก่…ซ - - 20 - ็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่†ฃใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ6้€ฑใซ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่†ฃใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่†ฃๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200950 - + + 20 + ็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่†ฃใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ6้€ฑใซ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่†ฃใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่†ฃๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200950 + persistent cloaca + ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“ ็ทๆŽ’ๆณ„่…”้บๆฎ‹ - + + - + + ็ทๆŽ’ๆณ„่…”้บๆฎ‹ - - 21 - ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡๏ผˆไปฅไธ‹ๆœฌ็—‡๏ผ‰ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏ็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่†ฃๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200951 - - Cloacal extrophy + + 21 + ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡๏ผˆไปฅไธ‹ๆœฌ็—‡๏ผ‰ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏ็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่†ฃๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200951 + + Cloacal exstrophy + ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ† ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ - + + - + + ็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ - - 15 - X้€ฃ้Ž–ๆ€งใฎ็Ÿฅ็š„้šœๅฎณใฎไธญใงใฏๆฏ”่ผƒ็š„้ ปๅบฆใŒ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ - 2200952 - + + 15 + X้€ฃ้Ž–ๆ€งใฎ็Ÿฅ็š„้šœๅฎณใฎไธญใงใฏๆฏ”่ผƒ็š„้ ปๅบฆใŒ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ + NANDO:2200952 + Coffin-Lowry syndrome + ใ“ใตใƒใ‚“ใƒปใ‚ใƒผใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค + - - + Coffin-Lowry็—‡ๅ€™็พค ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค - - 22 - NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅผฏใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค - 2200953 - + + 22 + NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅผฏใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค + NANDO:2200953 + Sotos syndrome + ใใจใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค - - + - + Sotos็—‡ๅ€™็พค - ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค - - 20 - 17p11.2ใฎๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็Ÿญใ„ๆŒ‡ใ€ไธญๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„ใช่กŒๅ‹•็‰นๆ€งใ€็ก็œ ้šœๅฎณใ‚’็คบใ™ใ€‚17p11.2ใซไฝ็ฝฎใ™ใ‚‹RAI1้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จใŒไธปใŸใ‚‹ๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200954 - + + 20 + 17p11.2ใฎๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็Ÿญใ„ๆŒ‡ใ€ไธญๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„ใช่กŒๅ‹•็‰นๆ€งใ€็ก็œ ้šœๅฎณใ‚’็คบใ™ใ€‚17p11.2ใซไฝ็ฝฎใ™ใ‚‹RAI1้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จใŒไธปใŸใ‚‹ๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200954 + Smith-Magenis syndrome + ใ™ใฟใ™ใƒปใพใŽใซใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค + - - + Smith-Magenis็—‡ๅ€™็พค ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค - - 33 - RubinsteinใจTaybi(1963ๅนด)ใŒโ€œBroad thumbs and toes and facial abnormalitiesโ€œใจ้กŒใ—ใฆใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œ๏ผŒ็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค7็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œ, Rubinstein-Taybi็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค - 2200955 - + + 33 + RubinsteinใจTaybi(1963ๅนด)ใŒโ€œBroad thumbs and toes and facial abnormalitiesโ€œใจ้กŒใ—ใฆใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œ๏ผŒ็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค7็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œ, Rubinstein-Taybi็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค + NANDO:2200955 + Rubinstein-Taybi syndrome + ใ‚‹ใณใ‚“ใ—ใ‚…ใŸใ„ใ‚“ใƒปใฆใ„ใณใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค - + - + Rubinstein-Taybi็—‡ๅ€™็พค ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค - - 11 - ๆŽจๅฎš้ ปๅบฆใ‹ใ‚‰็ฎ—ๅ‡บใ—ใŸๆŽจ่จˆ็ฝนๆ‚ฃ่€…ใฏ็ด„ 4,000ไบบ - 2200956 - + + 11 + ๆŽจๅฎš้ ปๅบฆใ‹ใ‚‰็ฎ—ๅ‡บใ—ใŸๆŽจ่จˆ็ฝนๆ‚ฃ่€…ใฏ็ด„ 4,000ไบบ + NANDO:2200956 + Kabuki syndrome + ใ‹ใถใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค - - + - - + ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค - - 9 - 1981ๅนดใซๆˆ‘ใŒๅ›ฝใ‹ใ‚‰็™บไฟกใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผˆๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000๏ผ‰ใ€‚ใปใจใ‚“ใฉใŒๅผง็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใๅฐ‘ๆ•ฐใ€‚ - 2200957 - + + 9 + 1981ๅนดใซๆˆ‘ใŒๅ›ฝใ‹ใ‚‰็™บไฟกใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผˆๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000๏ผ‰ใ€‚ใปใจใ‚“ใฉใŒๅผง็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใๅฐ‘ๆ•ฐใ€‚ + NANDO:2200957 + Weaver syndrome + ใ†ใƒใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค + - - + Weaver็—‡ๅ€™็พค ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค - - 16 - ็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๆฟƒใ„็œ‰ๆฏ›ใ€ไธกๅด็œ‰็™’ๅˆใ€้•ทใใ‚ซใƒผใƒซใ—ใŸ็ซๆฏ›ใ€ไธŠๅ‘ใใฎ้ผปๅญ”ใ€่–„ใ„ไธŠๅฃๅ”‡ใ€้•ทใ„ไบบไธญใชใฉ๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ - 2200958 - + + 16 + ็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๆฟƒใ„็œ‰ๆฏ›ใ€ไธกๅด็œ‰็™’ๅˆใ€้•ทใใ‚ซใƒผใƒซใ—ใŸ็ซๆฏ›ใ€ไธŠๅ‘ใใฎ้ผปๅญ”ใ€่–„ใ„ไธŠๅฃๅ”‡ใ€้•ทใ„ไบบไธญใชใฉ๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ + NANDO:2200958 + Cornelia de Lange syndrome + ใ“ใ‚‹ใญใ‚Šใ‚ใƒปใงใ‚‰ใ‚“ใ’ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค + - + Cornelia de Lange็—‡ๅ€™็พค ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค - - 28 - BWSใฏใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ข(Exomphalos), ๅทจ่ˆŒ(Macroglossia), ๅทจไฝ“(Giantism)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’ๅˆใ‚ใ›ใฆEMG็—‡ๅ€™็พคใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚็ด„15๏ผ…ใฎ็—‡ไพ‹ใงWilms่…ซ็˜ใ€่‚่Šฝ็จฎใ€ๆจช็ด‹็ญ‹่‚‰่…ซใชใฉ่ƒŽๅ…ๆ€ง่…ซ็˜ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚Sotos็—‡ๅ€™็พค็ญ‰ใฎ้Žๆˆ้•ทใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆ - 2200959 - + + 28 + BWSใฏใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ข(Exomphalos), ๅทจ่ˆŒ(Macroglossia), ๅทจไฝ“(Giantism)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’ๅˆใ‚ใ›ใฆEMG็—‡ๅ€™็พคใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚็ด„15๏ผ…ใฎ็—‡ไพ‹ใงWilms่…ซ็˜ใ€่‚่Šฝ็จฎใ€ๆจช็ด‹็ญ‹่‚‰่…ซใชใฉ่ƒŽๅ…ๆ€ง่…ซ็˜ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚Sotos็—‡ๅ€™็พค็ญ‰ใฎ้Žๆˆ้•ทใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆ + NANDO:2200959 + Beckwith-Wiedemann syndrome + ในใฃใใ†ใƒใšใƒปใณใƒผใงใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค + - + Beckwith-Wiedemann็—‡ๅ€™็พค ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค - - 1 - ้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ‚ใ‚Šใ€ๆ—ฅๆœฌใซใฏ3000ๅไปฅไธŠใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ - 2200960 - + + 1 + ้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ‚ใ‚Šใ€ๆ—ฅๆœฌใซใฏ3000ๅไปฅไธŠใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2200960 + Angelman syndrome + ใ‚ใ‚“ใ˜ใ‡ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค + - - + Angelman็—‡ๅ€™็พค ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค - - 2 - 5p-็—‡ๅ€™็พคใฏ5็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ1ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ1ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ - 2200961 - + + 2 + 5p-็—‡ๅ€™็พคใฏ5็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ1ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ1ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ + NANDO:2200961 + 5p- syndrome 5p-็—‡ๅ€™็พค + 5ใดใƒผใพใ„ใชใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + + 5p deletion syndrome + 5pๆฌ ๅคฑ็—‡ๅ€™็พค 5p-็—‡ๅ€™็พค - - 6 - ๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ - 2200962 - + + 6 + ๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ + NANDO:2200962 + 4p- Syndrome - 4p-็—‡ๅ€™็พค + 4p็—‡ๅ€™็พค + 4ใดใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + + 4p deletion syndrome + 4pๆฌ ๅคฑ็—‡ๅ€™็พค - 4p-็—‡ๅ€™็พค - - - 4 - 18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€18็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…3,500๏ฝž8,500ไบบใซ1ไบบใฎ้ ปๅบฆใง่ฆ‹ใ‚‰ใ‚Œใ€ๅฅณๅ…ใซๅคšใ„๏ผˆ็”ท๏ผšๅฅณ๏ผ๏ผ‘๏ผš๏ผ“๏ผ‰ใ€‚ - 2200963 - + 4p็—‡ๅ€™็พค + + + 4 + 18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€18็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…3,500๏ฝž8,500ไบบใซ1ไบบใฎ้ ปๅบฆใง่ฆ‹ใ‚‰ใ‚Œใ€ๅฅณๅ…ใซๅคšใ„๏ผˆ็”ท๏ผšๅฅณ๏ผ๏ผ‘๏ผš๏ผ“๏ผ‰ใ€‚ + NANDO:2200963 + + 18ใจใ‚Šใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค Trisomy 18 - - + 18 trisomy syndrome Chromosome 18 duplication Edwards syndrome - 18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค - - 3 - 13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€13็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…ใฎ5,000๏ฝž12,000ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚ - 2200964 - + + 3 + 13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€13็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…ใฎ5,000๏ฝž12,000ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2200964 + + 13ใจใ‚Šใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค Trisomy 13 - + 13 trisomy syndrome Patau syndrome - 13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค - - 5 - 1866ๅนด Downใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ่จ˜่ฟฐใ•ใ‚ŒใŸใ€‚1959ๅนดLejeuneใ‚‰ใซใ‚ˆใ‚Šใ€ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พคใงใฏๆŸ“่‰ฒไฝ“ใŒ47ๆœฌใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€้Žๅ‰ฐๆŸ“่‰ฒไฝ“ใŒ21็•ชๆŸ“่‰ฒไฝ“ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็œผ็žผ่ฃ‚ๆ–œไธŠใƒป้ผปๆ น้ƒจๅนณๅฆใƒปๅ†…็œผ่ง’่ด…็šฎใƒป่ˆŒใฎ็ชๅ‡บ๏ผ‰ใ€ๆ‰‹ๆŽŒๅ˜ไธ€ๅฑˆๆ›ฒ็ทšใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“ๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใ™ใ‚‹ - 2200965 - + + 5 + 1866ๅนด Downใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ่จ˜่ฟฐใ•ใ‚ŒใŸใ€‚1959ๅนดLejeuneใ‚‰ใซใ‚ˆใ‚Šใ€ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พคใงใฏๆŸ“่‰ฒไฝ“ใŒ47ๆœฌใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€้Žๅ‰ฐๆŸ“่‰ฒไฝ“ใŒ21็•ชๆŸ“่‰ฒไฝ“ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็œผ็žผ่ฃ‚ๆ–œไธŠใƒป้ผปๆ น้ƒจๅนณๅฆใƒปๅ†…็œผ่ง’่ด…็šฎใƒป่ˆŒใฎ็ชๅ‡บ๏ผ‰ใ€ๆ‰‹ๆŽŒๅ˜ไธ€ๅฑˆๆ›ฒ็ทšใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“ๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใ™ใ‚‹ + NANDO:2200965 + Down syndrome + ใ ใ†ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค - + Down็—‡ๅ€™็พค trisomy 21 ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค - - 7 - ๅธธๆŸ“่‰ฒไฝ“๏ผˆ1๏ฝž22็•ชๆŸ“่‰ฒไฝ“๏ผ‰ใฎๆ•ฐ็š„็•ฐๅธธใƒปๆง‹้€ ็•ฐๅธธใ‚‚ใ—ใใฏใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹้ƒจไฝใฎๅคงใใ•ใ‚„้‡่ค‡ใ‚‚ใ—ใใฏๆฌ ๅคฑใชใฉ็•ฐๅธธใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€็—‡็Šถใฎ็จ‹ๅบฆใฏ็•ฐใชใ‚‹ใ€‚ - 2200966 - + + 7 + ๅธธๆŸ“่‰ฒไฝ“๏ผˆ1๏ฝž22็•ชๆŸ“่‰ฒไฝ“๏ผ‰ใฎๆ•ฐ็š„็•ฐๅธธใƒปๆง‹้€ ็•ฐๅธธใ‚‚ใ—ใใฏใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹้ƒจไฝใฎๅคงใใ•ใ‚„้‡่ค‡ใ‚‚ใ—ใใฏๆฌ ๅคฑใชใฉ็•ฐๅธธใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€็—‡็Šถใฎ็จ‹ๅบฆใฏ็•ฐใชใ‚‹ใ€‚ + NANDO:2200966 + + 9ใ‹ใ‚‰14ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ„ใ˜ใ‚‡ใ† 9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ Other Chromosomal abnormalities - + Autosome 9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ - - 17 - ็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ - 2200967 - + + 17 + ็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ + NANDO:2200967 + + CFC Syndrome CFC็—‡ๅ€™็พค - Cardio-facio-cutaneuos syndrome + ใ—ใƒผใˆใตใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + + Cardio-facio-cutaneuos syndrome cardio-facio-cutaneous็—‡ๅ€™็พค + ๅฟƒ่‡“ใƒป้ก”ใƒป็šฎ่†š็—‡ๅ€™็พค + CFC็—‡ๅ€™็พค - - 29 - ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใŸใ™ - 2200968 - + + 29 + ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใŸใ™ + NANDO:2200968 + Marfan syndrome + ใพใ‚‹ใตใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค + + - - + Marfan็—‡ๅ€™็พค ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค - - 34 - ๅคงๅ‹•่„ˆ็—…ๅค‰ใ‚’ไธปใซใ€ๅฟƒ่ก€็ฎก็ณปใ€้ชจๆ ผ็ณปใ€็šฎ่†šไป–ใซใ‚‚็‰นๅพด็š„ใช็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€งใฎ้บไผๆ€ง็ตๅˆ็น”็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹ๅคงๅ‹•่„ˆใ€้ชจๆ ผ็—…ๅค‰ใ‚’ไธปๆ‰€่ฆ‹ใจใ™ใ‚‹ใŒใ€ๅฃ่“‹่ฃ‚ใƒปไบŒๅˆ†ๅฃ่“‹ๅž‚ใƒป็œผ้–“่งฃ้›ขใชใฉใฎ็‰นๅพด็š„ใช้ก”่ฒŒใ€ ๅ…จ่บซๅ‹•่„ˆใฎ่›‡่กŒใ€้ ญ่“‹้ชจๆ—ฉๆœŸ่žๅˆใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใ‚’ใ—ใฐใ—ใฐไผดใ†ใ€‚ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค๏ผˆ๏ผฌ๏ผค๏ผณ๏ผ‰ใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏใ€ ๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ‘ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ’ใ€๏ผณ๏ผญ๏ผก๏ผค๏ผ“ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ’ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ“ใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€2014ๅนดไปฅ้™ใฏๅŽŸๅ› ้บไผๅญใซใ‚ˆใฃใฆใ€ ใใ‚Œใžใ‚Œใ€๏ผฌ๏ผค๏ผณ๏ผ‘ใ€๏ผฌ๏ผค๏ผณ๏ผ’ใ€๏ผฌ๏ผค๏ผณ๏ผ“ใ€๏ผฌ๏ผค๏ผณ๏ผ”ใ€๏ผฌ๏ผค๏ผณ๏ผ•ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใซใฏๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ‚’ไผดใ‚ใชใ„ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค๏ผˆ๏ผ’ๅž‹๏ผ‰ ใจๅ‘ผใฐใ‚ŒใŸใ‚‚ใฎใ‚‚ๅซใฟใ€ใ—ใฐใ—ใฐใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ - 2200969 - + + 34 + ๅคงๅ‹•่„ˆ็—…ๅค‰ใ‚’ไธปใซใ€ๅฟƒ่ก€็ฎก็ณปใ€้ชจๆ ผ็ณปใ€็šฎ่†šไป–ใซใ‚‚็‰นๅพด็š„ใช็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€งใฎ้บไผๆ€ง็ตๅˆ็น”็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹ๅคงๅ‹•่„ˆใ€้ชจๆ ผ็—…ๅค‰ใ‚’ไธปๆ‰€่ฆ‹ใจใ™ใ‚‹ใŒใ€ๅฃ่“‹่ฃ‚ใƒปไบŒๅˆ†ๅฃ่“‹ๅž‚ใƒป็œผ้–“่งฃ้›ขใชใฉใฎ็‰นๅพด็š„ใช้ก”่ฒŒใ€ ๅ…จ่บซๅ‹•่„ˆใฎ่›‡่กŒใ€้ ญ่“‹้ชจๆ—ฉๆœŸ่žๅˆใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใ‚’ใ—ใฐใ—ใฐไผดใ†ใ€‚ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค๏ผˆ๏ผฌ๏ผค๏ผณ๏ผ‰ใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏใ€ ๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ‘ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ’ใ€๏ผณ๏ผญ๏ผก๏ผค๏ผ“ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ’ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ“ใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€2014ๅนดไปฅ้™ใฏๅŽŸๅ› ้บไผๅญใซใ‚ˆใฃใฆใ€ ใใ‚Œใžใ‚Œใ€๏ผฌ๏ผค๏ผณ๏ผ‘ใ€๏ผฌ๏ผค๏ผณ๏ผ’ใ€๏ผฌ๏ผค๏ผณ๏ผ“ใ€๏ผฌ๏ผค๏ผณ๏ผ”ใ€๏ผฌ๏ผค๏ผณ๏ผ•ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใซใฏๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ‚’ไผดใ‚ใชใ„ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค๏ผˆ๏ผ’ๅž‹๏ผ‰ ใจๅ‘ผใฐใ‚ŒใŸใ‚‚ใฎใ‚‚ๅซใฟใ€ใ—ใฐใ—ใฐใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ + NANDO:2200969 + Loeys-Dietz syndrome + ใ‚ใ„ใ™ใƒปใงใƒใƒผใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค + - + ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค - - 12 - ้ ญ่“‹้ชจใƒปไธŠ่…•้ชจใƒปๅคง่…ฟ้ชจใƒป่„›้ชจใƒป่…“้ชจ็ญ‰ใฎ้Žๅ‰ฐใช่†œๅ†…้ชจๅŒ–ใซใ‚ˆใ‚‹้ชจ็šฎ่ณชใฎ่‚ฅๅŽšใจ้•ท็ฎก้ชจ้ชจๅนน้ƒจใฎ็ดก้Œ˜ๅฝข่‚ฅๅคงใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ ๅ››่‚ข็—›ใ‚’็‰นๅพดใจใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง้ชจๅนน็•ฐๅฝขๆˆ็—‡๏ผˆProgressive Diaphyseal Dysplasia๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใฎ็—‡็Šถใฏๅนผๅ…ๆœŸใจ้’ๅนดๆˆไบบๆœŸใง็•ฐใชใ‚‹ใ€‚ ๅนผๅ…ๆœŸใฏใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆ˜“็–ฒๅŠดๆ€งใ‚’ไธปๅพดใจใ—ใ€้’ๅนดๆˆไบบๆœŸใฏใ€้ชจๅนนใฎ็–ผ็—›ใ€ใ‚ใพใ„ใ€้›ฃ่ดใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ - 2200970 - + + 12 + ้ ญ่“‹้ชจใƒปไธŠ่…•้ชจใƒปๅคง่…ฟ้ชจใƒป่„›้ชจใƒป่…“้ชจ็ญ‰ใฎ้Žๅ‰ฐใช่†œๅ†…้ชจๅŒ–ใซใ‚ˆใ‚‹้ชจ็šฎ่ณชใฎ่‚ฅๅŽšใจ้•ท็ฎก้ชจ้ชจๅนน้ƒจใฎ็ดก้Œ˜ๅฝข่‚ฅๅคงใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ ๅ››่‚ข็—›ใ‚’็‰นๅพดใจใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง้ชจๅนน็•ฐๅฝขๆˆ็—‡๏ผˆProgressive Diaphyseal Dysplasia๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใฎ็—‡็Šถใฏๅนผๅ…ๆœŸใจ้’ๅนดๆˆไบบๆœŸใง็•ฐใชใ‚‹ใ€‚ ๅนผๅ…ๆœŸใฏใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆ˜“็–ฒๅŠดๆ€งใ‚’ไธปๅพดใจใ—ใ€้’ๅนดๆˆไบบๆœŸใฏใ€้ชจๅนนใฎ็–ผ็—›ใ€ใ‚ใพใ„ใ€้›ฃ่ดใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ + NANDO:2200970 + Camurati-Engelmann disease + ใ‹ใ‚€ใ‚‰ใฆใƒใƒปใˆใ‚“ใ’ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค - + ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค - - 13 - ๅ…ˆๅคฉ็š„ใช๏ผจ๏ผฒ๏ผก๏ผณ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ - 2200971 - + + 13 + ๅ…ˆๅคฉ็š„ใช๏ผจ๏ผฒ๏ผก๏ผณ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ + NANDO:2200971 + Costello syndrome + ใ“ใ™ใฆใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค + - - + Costello็—‡ๅ€™็พค ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค - - 24 - CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ…20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”ใฎ้…ใ‚Œใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200972 - + + 24 + CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ…20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”ใฎ้…ใ‚Œใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200972 + CHARGE syndrome + ใกใ‚ƒใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค + - + - + CHARGE็—‡ๅ€™็พค ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค - - 25 - ็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๅฐ้กŽ็—‡ใƒป็‹ญใ„้ผปๅ ค๏ผ‰ใ€ๅ‡่กกๅž‹ไฝŽ่บซ้•ทใ€็–Žใชๆฏ›้ซชใ€ๅฐ็œผ็ƒ็—‡ใ‚„ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœ็ญ‰ใฎ็œผ็—‡็Šถใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใ€‚็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค๏ผˆoculo-mandibulo-facial syndrome๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ‚‹ใ€‚ - 2200973 - + + 25 + ็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๅฐ้กŽ็—‡ใƒป็‹ญใ„้ผปๅ ค๏ผ‰ใ€ๅ‡่กกๅž‹ไฝŽ่บซ้•ทใ€็–Žใชๆฏ›้ซชใ€ๅฐ็œผ็ƒ็—‡ใ‚„ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœ็ญ‰ใฎ็œผ็—‡็Šถใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใ€‚็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค๏ผˆoculo-mandibulo-facial syndrome๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ‚‹ใ€‚ + NANDO:2200973 + Hallermann-Streiff syndrome + ใฏใƒผใ‚‰ใพใ‚“ใƒปใ™ใจใ‚‰ใ„ใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค - + HSS Hallermann-Streiff-Francois syndrome + oculo-mandibulo-facial syndrome + ็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค - - 18 - ่‰ฒ็ด ๅคฑ่ชฟ็—‡ใฏใ€็šฎ่†šใ€้ซชใ€ๆญฏใ€็ˆชใ€็›ฎใ€ไธญๆžข็ฅž็ตŒใซ็—‡็ŠถใŒ็พใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช็šฎ่†š็—…ๅค‰ใฏใ€ๆฌกใฎ4ๆฎต้šŽใง้€ฒ่กŒใ™ใ‚‹ใ€‚ ็ฌฌ1ๆœŸใ€€ๆฐด็–ฑๆœŸ๏ผˆๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰4ใƒถๆœˆใพใง๏ผ‰ใ€็ฌฌ2ๆœŸใ€€็–ฃ็Šถ็™บ็–นๆœŸ๏ผˆๆ•ฐใƒถๆœˆ๏ผ‰ใ€็ฌฌ3ๆœŸใ€€ๆธฆๅทป็Šถ่‰ฒ็ด ๆฒˆ็€ๆœŸ๏ผˆ็”ŸๅพŒ6ใƒถๆœˆใ‹ใ‚‰ๆˆไบบใพใง๏ผ‰ใ€ ็ฌฌ4ๆœŸใ€€็ทš็Šถ่‰ฒ็ด ๆถˆ้€€ๆœŸใงใ‚ใ‚‹ใ€‚่„ฑๆฏ›ใ€ๆญฏ็‰™ๆฌ ๆใ€ๆญฏ็‰™ๅฝขๆ…‹็•ฐๅธธใ€็ˆชใฎๆ „้คŠ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็ถฒ่†œใฎ่ก€็ฎกๆ–ฐ็”ŸใŒไธ€้ƒจใฎ็ฝนๆ‚ฃ่€…ใซ่ฆ‹ใ‚‰ใ‚Œใ€ ็ถฒ่†œๅ‰ฅ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚็ฅž็ตŒใซใŠใ‘ใ‚‹ๆ‰€่ฆ‹ใงใฏ่ช็Ÿฅ่ƒฝๅŠ›ใฎ้…ใ‚Œใ€็Ÿฅ็š„้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2200974 - + + 18 + ่‰ฒ็ด ๅคฑ่ชฟ็—‡ใฏใ€็šฎ่†šใ€้ซชใ€ๆญฏใ€็ˆชใ€็›ฎใ€ไธญๆžข็ฅž็ตŒใซ็—‡็ŠถใŒ็พใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช็šฎ่†š็—…ๅค‰ใฏใ€ๆฌกใฎ4ๆฎต้šŽใง้€ฒ่กŒใ™ใ‚‹ใ€‚ ็ฌฌ1ๆœŸใ€€ๆฐด็–ฑๆœŸ๏ผˆๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰4ใƒถๆœˆใพใง๏ผ‰ใ€็ฌฌ2ๆœŸใ€€็–ฃ็Šถ็™บ็–นๆœŸ๏ผˆๆ•ฐใƒถๆœˆ๏ผ‰ใ€็ฌฌ3ๆœŸใ€€ๆธฆๅทป็Šถ่‰ฒ็ด ๆฒˆ็€ๆœŸ๏ผˆ็”ŸๅพŒ6ใƒถๆœˆใ‹ใ‚‰ๆˆไบบใพใง๏ผ‰ใ€ ็ฌฌ4ๆœŸใ€€็ทš็Šถ่‰ฒ็ด ๆถˆ้€€ๆœŸใงใ‚ใ‚‹ใ€‚่„ฑๆฏ›ใ€ๆญฏ็‰™ๆฌ ๆใ€ๆญฏ็‰™ๅฝขๆ…‹็•ฐๅธธใ€็ˆชใฎๆ „้คŠ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็ถฒ่†œใฎ่ก€็ฎกๆ–ฐ็”ŸใŒไธ€้ƒจใฎ็ฝนๆ‚ฃ่€…ใซ่ฆ‹ใ‚‰ใ‚Œใ€ ็ถฒ่†œๅ‰ฅ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚็ฅž็ตŒใซใŠใ‘ใ‚‹ๆ‰€่ฆ‹ใงใฏ่ช็Ÿฅ่ƒฝๅŠ›ใฎ้…ใ‚Œใ€็Ÿฅ็š„้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2200974 + Incontinentia Pigmenti + ใ—ใใใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ† ่‰ฒ็ด ๅคฑ่ชฟ็—‡ + - + Bloch-Sulzberger Syndrome ่‰ฒ็ด ๅคฑ่ชฟ็—‡ - - 8 - ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ - 2200975 - - Antley-Bixler Syndrome + + 8 + ้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ + NANDO:2200975 + + Antley-Bixler syndrome + ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค - - + - + + Antley-Bixler Syndrome Phenotype Antley-Bixler็—‡ๅ€™็พค ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค - - 27 - FGFR2้บไผๅญ๏ผˆๆ™‚ใซFGFR1้บไผๅญ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅ…ˆๅคฉ็š„ใช้ ญ่“‹้ชจใ‚„้ก”้ข้ชจ๏ผˆๅŸบๆœฌ็š„ใซไธ‹้กŽใ‚’้™คใ๏ผ‰ใฎๅฝขๆˆ็•ฐๅธธใŒใŠใ“ใ‚Šใ€่„ณใฎ็™บ้”ใŒๅฆจใ’ใ‚‰ใ‚ŒใŸใ‚Šใ€็œผ็ƒใŒ็ชๅ‡บใ—ใŸใ‚Šใ€ๅ‘ผๅธใŒ้šœๅฎณใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใ€‚ใพใŸๆ‰‹ใŠใ‚ˆใณ่ถณใฎๆŒ‡ใŒไบ’ใ„ใซ็™’ๅˆใ—ใฆใ„ใ‚‹ใ€‚ - 2200976 - + + 27 + FGFR2้บไผๅญ๏ผˆๆ™‚ใซFGFR1้บไผๅญ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅ…ˆๅคฉ็š„ใช้ ญ่“‹้ชจใ‚„้ก”้ข้ชจ๏ผˆๅŸบๆœฌ็š„ใซไธ‹้กŽใ‚’้™คใ๏ผ‰ใฎๅฝขๆˆ็•ฐๅธธใŒใŠใ“ใ‚Šใ€่„ณใฎ็™บ้”ใŒๅฆจใ’ใ‚‰ใ‚ŒใŸใ‚Šใ€็œผ็ƒใŒ็ชๅ‡บใ—ใŸใ‚Šใ€ๅ‘ผๅธใŒ้šœๅฎณใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใ€‚ใพใŸๆ‰‹ใŠใ‚ˆใณ่ถณใฎๆŒ‡ใŒไบ’ใ„ใซ็™’ๅˆใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2200976 + Pfeiffer syndrome + ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค + - - + Pfeiffer็—‡ๅ€™็พค ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค - - 14 - ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200977 - + + 14 + ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200977 + Coffin-Siris syndrome + ใ“ใตใƒใ‚“ใƒปใ—ใ‚Šใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค - - + - + Coffin-Siris็—‡ๅ€™็พค - ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค - - 19 - Simpson-Golabi-Behmel ็—‡ๅ€™็พค๏ผˆSGS๏ผ‰ใฏใ€ ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใจ็‰น็•ฐ้ก”่ฒŒใ€ๅคš็™บๅฅ‡ๅฝขใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๅคš็™บๅฅ‡ๅฝขใฏใ€ๅคšๆŒ‡ใ€็ˆชใฎไฝŽๅฝขๆˆใ€ๅฃ่“‹่ฃ‚ใ€ๅฟƒๅฅ‡ๅฝขใ€ๅ‰ฏไนณใ€้ผ ๅพ„ใƒ˜ใƒซใƒ‹ใ‚ขใชใฉใ‚’ไผดใ†ใ€‚็Ÿฅ่ƒฝใฏไธ€่ˆฌใซๆญฃๅธธใ€‚ใพใŸใ€Wilms ่…ซ็˜ใ€่‚่Šฝ่…ซใชใฉใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚ - 2200978 - + + 19 + Simpson-Golabi-Behmel ็—‡ๅ€™็พค๏ผˆSGS๏ผ‰ใฏใ€ ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใจ็‰น็•ฐ้ก”่ฒŒใ€ๅคš็™บๅฅ‡ๅฝขใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๅคš็™บๅฅ‡ๅฝขใฏใ€ๅคšๆŒ‡ใ€็ˆชใฎไฝŽๅฝขๆˆใ€ๅฃ่“‹่ฃ‚ใ€ๅฟƒๅฅ‡ๅฝขใ€ๅ‰ฏไนณใ€้ผ ๅพ„ใƒ˜ใƒซใƒ‹ใ‚ขใชใฉใ‚’ไผดใ†ใ€‚็Ÿฅ่ƒฝใฏไธ€่ˆฌใซๆญฃๅธธใ€‚ใพใŸใ€Wilms ่…ซ็˜ใ€่‚่Šฝ่…ซใชใฉใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚ + NANDO:2200978 + Simpson-Golabi-Behmel syndrome + ใ—ใ‚“ใทใใ‚“ใƒปใ”ใ‚‰ใณใƒปในใƒผใ‚ใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค - + - + Simpson-Golabi-Behmel็—‡ๅ€™็พค ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค - - 21 - ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พคใฏใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅˆๆˆใฎๆœ€็ต‚ๆฎต้šŽใงใ‚ใ‚‹7-ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ้‚„ๅ…ƒ้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹DHCR7้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใฎไฝŽไธ‹ใฏ็ดฐ่ƒž่†œใฎๆง‹ๆˆใ‚„ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎ็•ฐๅธธใ‚’ใใŸใ—ใ€ๅ…จ่บซๆ€งใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆๆˆ้•ท้šœๅฎณใ€ๅฐ้ ญ็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅค–ๆ€งๅ™จ็•ฐๅธธ๏ผˆ็”ทๅ…๏ผ‰ใ€ๅˆ่ถพ็ญ‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‹ใ‚‰็”Ÿๆˆใ•ใ‚Œใ‚‹ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณใ‚„ๆ€งใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใฎใŸใ‚ใ€ไบŒๆฌก็š„ใชๅ‰ฏ่…Žใƒปๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚Šใ€่ฃœๅ……็™‚ๆณ•ใ‚’่ฆใ™ใ‚‹ใ€‚้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚Šใ€ๆˆไบบๅพŒใ‚‚่ปฝๅฟซใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚ - 2200979 - + + 21 + ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พคใฏใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅˆๆˆใฎๆœ€็ต‚ๆฎต้šŽใงใ‚ใ‚‹7-ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ้‚„ๅ…ƒ้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹DHCR7้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใฎไฝŽไธ‹ใฏ็ดฐ่ƒž่†œใฎๆง‹ๆˆใ‚„ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎ็•ฐๅธธใ‚’ใใŸใ—ใ€ๅ…จ่บซๆ€งใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆๆˆ้•ท้šœๅฎณใ€ๅฐ้ ญ็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅค–ๆ€งๅ™จ็•ฐๅธธ๏ผˆ็”ทๅ…๏ผ‰ใ€ๅˆ่ถพ็ญ‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‹ใ‚‰็”Ÿๆˆใ•ใ‚Œใ‚‹ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณใ‚„ๆ€งใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใฎใŸใ‚ใ€ไบŒๆฌก็š„ใชๅ‰ฏ่…Žใƒปๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚Šใ€่ฃœๅ……็™‚ๆณ•ใ‚’่ฆใ™ใ‚‹ใ€‚้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚Šใ€ๆˆไบบๅพŒใ‚‚่ปฝๅฟซใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚ + NANDO:2200979 + Smith-Lemli-Opitz syndrome + ใ™ใฟใ™ใƒปใ‚Œใ‚€ใ‚ŠใƒปใŠใดใฃใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค + - - + Smith-Lemli-Opitz็—‡ๅ€™็พค ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค - - 30 - ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ - 2200980 - + + 30 + ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ + NANDO:2200980 + Moebius syndrome + ใ‚ใณใ†ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค + - - + + Mobius syndrome Moebius็—‡ๅ€™็พค ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค - - 31 - ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ - 2200981 - + + 31 + ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ + NANDO:2200981 + Mowat-Wilson syndrome + ใ‚‚ใ‚ใฃใจใƒปใ†ใƒใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค + - + Mowat-Wilson็—‡ๅ€™็พค ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค - - 32 - ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2200982 - + + 32 + ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2200982 + Young-Simpson syndrome + ใ‚„ใ‚“ใใƒปใ—ใ‚“ใทใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค + - - + Young-Simpson็—‡ๅ€™็พค - ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค - - 26 - VATER ็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ•ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER ็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ - 2200983 - + + 26 + VATER ็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ•ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER ็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ + NANDO:2200983 + VATER syndrome VATER็—‡ๅ€™็พค + ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผใตใใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + VATER็—‡ๅ€™็พค - - 10 - ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้€ฒ่กŒๆ€ง็—™ๆ€ง้šœๅฎณใ€ๅๅพฉๆ€งๆ„ŸๆŸ“็—‡๏ผˆๅ‘ผๅธๅ™จใ‚„ๅฐฟ่ทฏใชใฉ๏ผ‰ใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใŒใชใ„ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใจ็™‚่‚ฒใซ้ ผใ‚‰ใ–ใ‚‹ใ‚’ๅพ—ใชใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅˆไฝตใŒ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰่ตทใ“ใ‚‹ๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใ‚’ใฏใ˜ใ‚ใจใ—ใŸใ•ใพใ–ใพใชๆ„ŸๆŸ“็—‡ใฏๆ—ฅๅธธ็”Ÿๆดปใ‚’่‘—ใ—ใๅˆถ้™ใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ๆ„ŸๆŸ“็—‡ใ‚„ๆถˆๅŒ–ๅ™จ็—‡็Šถใซๅฏพใ™ใ‚‹ๅฏพ็—‡็™‚ๆณ•ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™ๆ„ŸๆŸ“็—‡ใŒ็”Ÿๅ‘ฝไบˆๅพŒใซ้–ข้€ฃใ™ใ‚‹ใ€‚ - 2200984 - + + 10 + ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้€ฒ่กŒๆ€ง็—™ๆ€ง้šœๅฎณใ€ๅๅพฉๆ€งๆ„ŸๆŸ“็—‡๏ผˆๅ‘ผๅธๅ™จใ‚„ๅฐฟ่ทฏใชใฉ๏ผ‰ใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใŒใชใ„ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใจ็™‚่‚ฒใซ้ ผใ‚‰ใ–ใ‚‹ใ‚’ๅพ—ใชใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅˆไฝตใŒ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰่ตทใ“ใ‚‹ๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใ‚’ใฏใ˜ใ‚ใจใ—ใŸใ•ใพใ–ใพใชๆ„ŸๆŸ“็—‡ใฏๆ—ฅๅธธ็”Ÿๆดปใ‚’่‘—ใ—ใๅˆถ้™ใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ๆ„ŸๆŸ“็—‡ใ‚„ๆถˆๅŒ–ๅ™จ็—‡็Šถใซๅฏพใ™ใ‚‹ๅฏพ็—‡็™‚ๆณ•ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™ๆ„ŸๆŸ“็—‡ใŒ็”Ÿๅ‘ฝไบˆๅพŒใซ้–ข้€ฃใ™ใ‚‹ใ€‚ + NANDO:2200984 + MECP2 duplication syndrome MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค + ใˆใ‚€ใ„ใƒผใ—ใƒผใดใƒผ2ใกใ‚‡ใ†ใตใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - + MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค - - 23 - ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟไฝŽไธ‹็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€ๅฑˆๆŒ‡ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็‰นๅพด็š„้ก”่ฒŒใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€้ƒจใฎๆ‚ฃ่€…ใซใฏใ€็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใ€ๅๅพฉๆ„ŸๆŸ“็—‡ใ€ใƒชใƒณใƒ‘ๆตฎ่…ซใ€ใ‚’่ชใ‚ใ‚‹ใ€‚CDC42้บไผๅญใซใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๆ–ฐ็”Ÿ็ช็„ถๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚CDC42ใฏใ€็ดฐ่ƒžๅ‘จๆœŸใฎ่ชฟ็ฏ€ใ‚„็ดฐ่ƒž้ชจๆ ผใฎๅฝขๆˆ็ถญๆŒใซ้‡่ฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅคšๅฝฉใช็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใฏใ€ๅฐๅ…ๆœŸไปฅ้™ใ‚‚่ปฝๅฟซใ›ใšใ€ๆˆไบบๆœŸไปฅ้™ใ‚‚ๆŒ็ถšใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๆญฆๅ†…ใŠใ‚ˆใณๅฐๅดŽใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2200985 - + + 23 + ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟไฝŽไธ‹็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€ๅฑˆๆŒ‡ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็‰นๅพด็š„้ก”่ฒŒใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€้ƒจใฎๆ‚ฃ่€…ใซใฏใ€็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใ€ๅๅพฉๆ„ŸๆŸ“็—‡ใ€ใƒชใƒณใƒ‘ๆตฎ่…ซใ€ใ‚’่ชใ‚ใ‚‹ใ€‚CDC42้บไผๅญใซใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๆ–ฐ็”Ÿ็ช็„ถๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚CDC42ใฏใ€็ดฐ่ƒžๅ‘จๆœŸใฎ่ชฟ็ฏ€ใ‚„็ดฐ่ƒž้ชจๆ ผใฎๅฝขๆˆ็ถญๆŒใซ้‡่ฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅคšๅฝฉใช็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใฏใ€ๅฐๅ…ๆœŸไปฅ้™ใ‚‚่ปฝๅฟซใ›ใšใ€ๆˆไบบๆœŸไปฅ้™ใ‚‚ๆŒ็ถšใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๆญฆๅ†…ใŠใ‚ˆใณๅฐๅดŽใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2200985 + Takenouchi-Kosaki syndrome + ใŸใ‘ใฎใ†ใกใƒปใ“ใ•ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค - + ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค - - 1 - ็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆoculocutaneous albinism; OCA ๏ผ‰ใฏใ€ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ใฏๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใงใ‚ใ‚Šใ€้’๏ฝž็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€็™ฝ๏ฝž่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็œผใฎ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็šฎ่†š็—‡็ŠถใŒๅˆค็„ถใจใ›ใšใ€็œผใฎ็—‡็Šถใฎใฟใฎใ‚‚ใฎใฏ็œผ็™ฝ็šฎ็—‡๏ผˆocular albinism๏ผ›OA๏ผ‰ใจใ„ใ†ใ€‚ๅ…จใฆใฎOCAใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚OAใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’็—‡ๅ€™ๅž‹๏ผˆsyndromic albinism๏ผ‰ใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ็—‡ๅ€™ๅž‹ใซใฏใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’็คบใ™Hermansky-Pudlak syndrome๏ผˆHPS๏ผ‰, ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใจๅ…็–ซไธๅ…จใ‚’ไผดใ†Chรฉdiak-Higashi syndrome๏ผˆCHS๏ผ‰, CHSใซ่‡จๅบŠ็—‡็Šถใฏ้กžไผผใ™ใ‚‹ใŒ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใ‚’ๆŒใŸใชใ„Griscelli syndrome๏ผˆGS๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ใจใ‚‚ใชใ‚ใชใ„ใ‚ฟใ‚คใƒ—ใ‚’้ž็—‡ๅ€™ๅž‹๏ผˆnon-syndromic albinism๏ผ‰ใจๅ‘ผใถใ€‚้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ7็จฎ้กžใ€็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ13็จฎ้กžใ€่จˆ20็จฎ้กžใฎๅŽŸๅ› ้บไผๅญ๏ผˆ้บไผๅญๅบงใ‚’ๅซใ‚€๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1๏ผ‰ใ€‚่กจ๏ผ‘๏ผŽ็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎ็—…ๅ› ้บไผๅญใซใ‚ˆใ‚‹ๅˆ†้กž - 2200986 - + + 1 + ็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆoculocutaneous albinism; OCA ๏ผ‰ใฏใ€ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ใฏๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใงใ‚ใ‚Šใ€้’๏ฝž็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€็™ฝ๏ฝž่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็œผใฎ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็šฎ่†š็—‡็ŠถใŒๅˆค็„ถใจใ›ใšใ€็œผใฎ็—‡็Šถใฎใฟใฎใ‚‚ใฎใฏ็œผ็™ฝ็šฎ็—‡๏ผˆocular albinism๏ผ›OA๏ผ‰ใจใ„ใ†ใ€‚ๅ…จใฆใฎOCAใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚OAใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’็—‡ๅ€™ๅž‹๏ผˆsyndromic albinism๏ผ‰ใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ็—‡ๅ€™ๅž‹ใซใฏใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’็คบใ™Hermansky-Pudlak syndrome๏ผˆHPS๏ผ‰, ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใจๅ…็–ซไธๅ…จใ‚’ไผดใ†Chรฉdiak-Higashi syndrome๏ผˆCHS๏ผ‰, CHSใซ่‡จๅบŠ็—‡็Šถใฏ้กžไผผใ™ใ‚‹ใŒ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใ‚’ๆŒใŸใชใ„Griscelli syndrome๏ผˆGS๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ใจใ‚‚ใชใ‚ใชใ„ใ‚ฟใ‚คใƒ—ใ‚’้ž็—‡ๅ€™ๅž‹๏ผˆnon-syndromic albinism๏ผ‰ใจๅ‘ผใถใ€‚้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ7็จฎ้กžใ€็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ13็จฎ้กžใ€่จˆ20็จฎ้กžใฎๅŽŸๅ› ้บไผๅญ๏ผˆ้บไผๅญๅบงใ‚’ๅซใ‚€๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1๏ผ‰ใ€‚่กจ๏ผ‘๏ผŽ็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎ็—…ๅ› ้บไผๅญใซใ‚ˆใ‚‹ๅˆ†้กž + NANDO:2200986 + oculocutaneous albinism + ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ† ็œผ็šฎ่†š็™ฝ็šฎ็—‡ - + - + OCA ๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡ ็œผ็šฎ่†š็™ฝ็šฎ็—‡ - - 4 - ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใซใฏ็†ฑๅ‚ทใ‚’ๆ€ใ‚ใ›ใ‚‹ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใ€็ด…็šฎ็—‡ใŒใฟใ‚‰ใ‚Œใ€ใใฎๅพŒใ‚‚ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใ‚’ไธญๅฟƒใซๅผ›็ทฉๆ€งๆฐด็–ฑใจๆต…ใ„ใณใ‚‰ใ‚“ใฎๅฝขๆˆใŒๅๅพฉใ™ใ‚‹[1]-[3]ใ€‚ - 2200987 - + + 4 + ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใซใฏ็†ฑๅ‚ทใ‚’ๆ€ใ‚ใ›ใ‚‹ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใ€็ด…็šฎ็—‡ใŒใฟใ‚‰ใ‚Œใ€ใใฎๅพŒใ‚‚ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใ‚’ไธญๅฟƒใซๅผ›็ทฉๆ€งๆฐด็–ฑใจๆต…ใ„ใณใ‚‰ใ‚“ใฎๅฝขๆˆใŒๅๅพฉใ™ใ‚‹[1]-[3]ใ€‚ + NANDO:2200987 + keratinopathic ichthyosis + ใ‘ใ‚‰ใกใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ + - + epidermolytic ichthyosis and superficial epidermolytic ichthyos ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ - - 4 - 2200988 - + + 4 + NANDO:2200988 + Autosomal dominant epidermolytic ichthyosis - ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€ง๏ผ‰ - + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ + - - + - ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€ง๏ผ‰ + ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ - - 4 - 2200989 - + + 4 + NANDO:2200989 + Autosomal recessive epidermolytic ichthyosis - ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅŠฃๆ€ง๏ผ‰ + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ + - + - ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅŠฃๆ€ง๏ผ‰ + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ - - 4 - 2200990 - - superficial epidermolytic ichthyos + + 4 + NANDO:2200990 + + Superficial epidermolytic ichthyosis + ใฒใ‚‡ใ†ใ–ใ„ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ + + - + + ่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ - - 6 - ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใŒใ€ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใฏไผดใ‚ใชใ„ใ€‚ใ“ใฎ็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ้กžไผผใ—ใŸ่‡จๅบŠ็—‡็Šถใจ้บไผๅญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใ‚’ใพใจใ‚ใŸๆฆ‚ๅฟตใงใ‚ใ‚‹ใŸใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ[1][2]ใ€‚ - 2200991 - - autosomal recessive congenital ichthyosis + + 6 + ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใŒใ€ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใฏไผดใ‚ใชใ„ใ€‚ใ“ใฎ็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ้กžไผผใ—ใŸ่‡จๅบŠ็—‡็Šถใจ้บไผๅญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใ‚’ใพใจใ‚ใŸๆฆ‚ๅฟตใงใ‚ใ‚‹ใŸใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ[1][2]ใ€‚ + NANDO:2200991 + + Autosomal recessive congenital ichthyosis + ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ + - + ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ - - 7 - ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€ๅ‡บ็”Ÿๆ™‚ใซใฏใ€ใ™ใงใซๅ…จ่บซใŒๅŽšใ„ๆฟ็Šถใฎ่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†šใฎๆทฑใ„ไบ€่ฃ‚ใ€็œผ็žผๅค–ๅใ€ๅฃๅ”‡ใฎ็ชๅ‡บใƒป้–‹ๅฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใฎ้ญš้ฑ—็™ฌใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹[1][2]ใ€‚ - 2200992 - + + 7 + ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€ๅ‡บ็”Ÿๆ™‚ใซใฏใ€ใ™ใงใซๅ…จ่บซใŒๅŽšใ„ๆฟ็Šถใฎ่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†šใฎๆทฑใ„ไบ€่ฃ‚ใ€็œผ็žผๅค–ๅใ€ๅฃๅ”‡ใฎ็ชๅ‡บใƒป้–‹ๅฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใฎ้ญš้ฑ—็™ฌใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹[1][2]ใ€‚ + NANDO:2200992 + harlequin ichthyosis + ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ ้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ + - - + ้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ - - 8 - ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๆฏ›้ซชใฎ็•ฐๅธธใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็–พๆ‚ฃใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1]ใ€‚ - 2200993 - + + 8 + ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๆฏ›้ซชใฎ็•ฐๅธธใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็–พๆ‚ฃใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1]ใ€‚ + NANDO:2200993 + Netherton syndrome + ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค + + - - + Netherton็—‡ๅ€™็พค ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค - - 5 - ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซใ€ๅ››่‚ขใฎ็—™ๆ€ง้บป็—บใ€ใชใ‚‰ใณใซ็ฒพ็ฅž้…ๆปžใ‚’ๅˆไฝตใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1][2]ใ€‚ - 2200994 - - Sjogren-Larsson syndrome + + 5 + ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซใ€ๅ››่‚ขใฎ็—™ๆ€ง้บป็—บใ€ใชใ‚‰ใณใซ็ฒพ็ฅž้…ๆปžใ‚’ๅˆไฝตใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1][2]ใ€‚ + NANDO:2200994 + + Sjรถgren-Larsson syndrome + ใ—ใ‡ใƒผใใ‚Œใ‚“ใƒปใ‚‰ใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค + - - + + Sjogren-Larsson syndrome Sjogren-Larsson็—‡ๅ€™็พค - Sjรถgren-Larsson syndrome ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค - - 9 - ๅ…จ่บซ็šฎ่†šใซๆง˜ใ€…ใชๅŽšใ•ใฎ้ฑ—ๅฑ‘ใ€้ญš้ฑ—็™ฌใ‚’็”Ÿใ˜ใ‚‹้บไผๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ใ€‚็šฎ่†šใฎ็™บ่ตค(ๆฝฎ็ด…ใ€็ด…็šฎ็—‡)ใฎ็จ‹ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎไธปใชใ‚‚ใฎใซใฏใ€5.Netherton็—‡ๅ€™็พคใ€‘ใ€ใ€6.Sjรถgren-Larsson็—‡ๅ€™็พคใ€‘ไปฅๅค–ใฎ้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฏใ€้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๅŠ ใˆใฆๆง˜ใ€…ใชไป–่‡“ๅ™จ็—‡็Šถใ‚’ไผดใ†ใ‚‚ใฎใงใ‚ใ‚Šใ€็šฎ่†š็ง‘็š„ใชๆฒป็™‚ใซๅŠ ใˆใ€ๅˆไฝตใ™ใ‚‹่‡“ๅ™จ็—‡็Šถใซๅฟœใ˜ใฆๅฐๅ…็ง‘ใ€็œผ็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€็ฒพ็ฅž็ง‘ใชใฉใฎๅฐ‚้–€้ ˜ๅŸŸใงใฎๅฏพๅฟœใ‚‚ๅฟ…่ฆใจใชใ‚‹ใ€‚ใ€€ไปฃ่กจ็š„ใชใ‚‚ใฎใจใ—ใฆใ€KID็—‡ๅ€™็พคใ€Dorfman-Chanarin็—‡ๅ€™็พคใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚KID็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€Dorfman-Chanarin็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹[1]-[5]ใ€‚ - 2200995 - + + 9 + ๅ…จ่บซ็šฎ่†šใซๆง˜ใ€…ใชๅŽšใ•ใฎ้ฑ—ๅฑ‘ใ€้ญš้ฑ—็™ฌใ‚’็”Ÿใ˜ใ‚‹้บไผๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ใ€‚็šฎ่†šใฎ็™บ่ตค(ๆฝฎ็ด…ใ€็ด…็šฎ็—‡)ใฎ็จ‹ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎไธปใชใ‚‚ใฎใซใฏใ€5.Netherton็—‡ๅ€™็พคใ€‘ใ€ใ€6.Sjรถgren-Larsson็—‡ๅ€™็พคใ€‘ไปฅๅค–ใฎ้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฏใ€้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๅŠ ใˆใฆๆง˜ใ€…ใชไป–่‡“ๅ™จ็—‡็Šถใ‚’ไผดใ†ใ‚‚ใฎใงใ‚ใ‚Šใ€็šฎ่†š็ง‘็š„ใชๆฒป็™‚ใซๅŠ ใˆใ€ๅˆไฝตใ™ใ‚‹่‡“ๅ™จ็—‡็Šถใซๅฟœใ˜ใฆๅฐๅ…็ง‘ใ€็œผ็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€็ฒพ็ฅž็ง‘ใชใฉใฎๅฐ‚้–€้ ˜ๅŸŸใงใฎๅฏพๅฟœใ‚‚ๅฟ…่ฆใจใชใ‚‹ใ€‚ใ€€ไปฃ่กจ็š„ใชใ‚‚ใฎใจใ—ใฆใ€KID็—‡ๅ€™็พคใ€Dorfman-Chanarin็—‡ๅ€™็พคใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚KID็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€Dorfman-Chanarin็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹[1]-[5]ใ€‚ + NANDO:2200995 + + 2ใ‹ใ‚‰6ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ 2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ Other congenital ichthyoses - + 2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ - - 9 - 2200996 - + + 9 + NANDO:2200996 + KID็—‡ๅ€™็พค keratitis-ichthyosis-deafness syndrome + ใ‘ใƒผใ‚ใ„ใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + - + + KID syndrome + KID็—‡ๅ€™็พค - - 9 - 2200997 - + + 9 + NANDO:2200997 + Dorfman-Chanarin syndrome - Dorfman-Chanarin็—‡ๅ€™็พค + ใฉใ‚‹ใตใพใ‚“ใƒปใ—ใ‚ƒใชใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค + - + neutral lipid storage disease - Dorfman-Chanarin็—‡ๅ€™็พค + ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค - - 9 - 2200998 - + + 9 + NANDO:2200998 + + CHILD syndrome CHILD็—‡ๅ€™็พค - Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome + ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + - + + Congenital hemidysplasia with ichthyosiform nevus and limb defects CHILD็—‡ๅ€™็พค - - 9 - 2200999 - + + 9 + NANDO:2200999 + IFAP็—‡ๅ€™็พค Ichthyosis-follicularis-atrichia-photophobia syndrome - + ใ‚ใ„ใˆใตใˆใƒผใดใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ - - + + IFAP็—‡ๅ€™็พค - - 12 - ๅนณๆˆ๏ผ–ๅนดใซๅฎŸๆ–ฝใ—ใŸๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใซใ‚ˆใ‚‹ใจใ€ๅ…จๅ›ฝๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ500๏ฝž640ไบบใ€‚ๆ€งๆฏ”ใฏ็”ทๅฅณใปใผๅŒๆ•ฐใ€ๅนด้ฝขๅˆฅใงใฏ๏ผ•ๆญณๆœชๆบ€ใŒๆœ€ใ‚‚ๅคšใ22๏ผ…ใ€‚็™บ็—‡ๅนด้ฝขใฏ็ด„๏ผ™ๅ‰ฒใŒ๏ผ‘ๆญณๆœชๆบ€ใ€‚็—…ๅž‹ๅˆฅใงใฏ(1)ๅ˜็ด”ๅž‹ใ€€32๏ผ…(2)ๆŽฅๅˆ้ƒจๅž‹ใ€€7๏ผ…(3)ๅ„ชๆ€งใจๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€€ใใ‚Œใžใ‚Œ21๏ผ…ใจ33๏ผ…(4)ใใฎไป–ใ€€7๏ผ… ใงใ€็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญๅฏพ่ฑก๏ผˆ(2)ใ€(3)๏ผ‰ใฎๅˆ่จˆใฏ61๏ผ…ใ€‚ๅ—็™‚็Šถๆณใฏใ€ไธปใซ้€š้™ขใŒ็ด„50๏ผ…ใงๆœ€ใ‚‚ๅคšใใ€ๆฌกใ„ใงๅœจๅฎ…็™‚ๆณ•16๏ผ…ใ€่ปฝๅฟซ10๏ผ…ใ€ไธปใซๅ…ฅ้™ข3๏ผ…ใฎ้ †ใ€‚่ปฝ็—‡ไพ‹ใ‚‚ๅซใ‚ใ€ๅฎŸ้š›ใฎๆ‚ฃ่€…ๆ•ฐใฏใ•ใ‚‰ใซๅคšใ„ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ใใฎ้บไผๅฝขๅผใจๆฐด็–ฑใฎๅฝขๆˆใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚๏ผˆ่กจ1๏ผ‰(ๆ–ฐๅ›ฝ้š›่จบๆ–ญๅŸบๆบ– Fineetal. JAm Acad Dermatol(2008)ใ‹ใ‚‰ๅผ•็”จ) - 2201000 - - epidermolysis bullosa + + 12 + ๅนณๆˆ๏ผ–ๅนดใซๅฎŸๆ–ฝใ—ใŸๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใซใ‚ˆใ‚‹ใจใ€ๅ…จๅ›ฝๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ500๏ฝž640ไบบใ€‚ๆ€งๆฏ”ใฏ็”ทๅฅณใปใผๅŒๆ•ฐใ€ๅนด้ฝขๅˆฅใงใฏ๏ผ•ๆญณๆœชๆบ€ใŒๆœ€ใ‚‚ๅคšใ22๏ผ…ใ€‚็™บ็—‡ๅนด้ฝขใฏ็ด„๏ผ™ๅ‰ฒใŒ๏ผ‘ๆญณๆœชๆบ€ใ€‚็—…ๅž‹ๅˆฅใงใฏ(1)ๅ˜็ด”ๅž‹ใ€€32๏ผ…(2)ๆŽฅๅˆ้ƒจๅž‹ใ€€7๏ผ…(3)ๅ„ชๆ€งใจๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€€ใใ‚Œใžใ‚Œ21๏ผ…ใจ33๏ผ…(4)ใใฎไป–ใ€€7๏ผ… ใงใ€็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญๅฏพ่ฑก๏ผˆ(2)ใ€(3)๏ผ‰ใฎๅˆ่จˆใฏ61๏ผ…ใ€‚ๅ—็™‚็Šถๆณใฏใ€ไธปใซ้€š้™ขใŒ็ด„50๏ผ…ใงๆœ€ใ‚‚ๅคšใใ€ๆฌกใ„ใงๅœจๅฎ…็™‚ๆณ•16๏ผ…ใ€่ปฝๅฟซ10๏ผ…ใ€ไธปใซๅ…ฅ้™ข3๏ผ…ใฎ้ †ใ€‚่ปฝ็—‡ไพ‹ใ‚‚ๅซใ‚ใ€ๅฎŸ้š›ใฎๆ‚ฃ่€…ๆ•ฐใฏใ•ใ‚‰ใซๅคšใ„ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ใใฎ้บไผๅฝขๅผใจๆฐด็–ฑใฎๅฝขๆˆใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚๏ผˆ่กจ1๏ผ‰(ๆ–ฐๅ›ฝ้š›่จบๆ–ญๅŸบๆบ– Fineetal. JAm Acad Dermatol(2008)ใ‹ใ‚‰ๅผ•็”จ) + NANDO:2201000 + + Epidermolysis bullosa + ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† ่กจ็šฎๆฐด็–ฑ็—‡ - + - + ่กจ็šฎๆฐด็–ฑ็—‡ - - 10 - ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—…็†็ต„็น”ๅญฆ็š„ใซKogoj ๆตท็ถฟ็Šถ่†ฟ็–ฑใ‚’็‰นๅพดใจใ™ใ‚‹่ง’ๅฑคไธ‹่†ฟ็–ฑใ‚’ๅฝขๆˆใ™ใ‚‹๏ผŽๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒๆœฌ็—‡ใฎ็‰นๅพดใงใ‚ใ‚‹๏ผŽๅฐ‹ๅธธๆ€งไนพ็™ฌ็šฎ็–นใŒๅ…ˆ่กŒใ™ใ‚‹ไพ‹ใซใคใ„ใฆใฏๆˆไบบไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใฎใงไป–็จฟใซ่ญฒใ‚‹ใ€‚็ตŒ้Žไธญใซๅ…จ่บซๆ€ง็‚Ž็—‡ๅๅฟœใซไผดใ†่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹2)ใ€‚ - 2201001 - - pustular psoriasis + + 10 + ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—…็†็ต„็น”ๅญฆ็š„ใซKogoj ๆตท็ถฟ็Šถ่†ฟ็–ฑใ‚’็‰นๅพดใจใ™ใ‚‹่ง’ๅฑคไธ‹่†ฟ็–ฑใ‚’ๅฝขๆˆใ™ใ‚‹๏ผŽๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒๆœฌ็—‡ใฎ็‰นๅพดใงใ‚ใ‚‹๏ผŽๅฐ‹ๅธธๆ€งไนพ็™ฌ็šฎ็–นใŒๅ…ˆ่กŒใ™ใ‚‹ไพ‹ใซใคใ„ใฆใฏๆˆไบบไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใฎใงไป–็จฟใซ่ญฒใ‚‹ใ€‚็ตŒ้Žไธญใซๅ…จ่บซๆ€ง็‚Ž็—‡ๅๅฟœใซไผดใ†่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹2)ใ€‚ + NANDO:2201001 + + Pustular psoriasis + ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰ ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ + - + + GPP + Generalized pustular psoriasis ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ - - 2 - ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้ซ˜็™บ็™Œๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ8ใคใฎใ‚ตใƒ–ใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ - 2201002 - + + 2 + ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้ซ˜็™บ็™Œๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ8ใคใฎใ‚ตใƒ–ใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ + NANDO:2201002 + Xeroderma pigmentosum + ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ† ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ - + - + XP ่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ - - 14 - ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจใ€็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎใปใ‹้ชจใ€็œผใ€็ฅž็ตŒใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2201003 - + + 14 + ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจใ€็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎใปใ‹้ชจใ€็œผใ€็ฅž็ตŒใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2201003 + von Recklinghausen's disease + ใ‚Œใฃใใ‚Šใ‚“ใใฏใ†ใœใ‚“ใณใ‚‡ใ† ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… - + neurofibromatosis type 1 ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹ ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… - - 11 - ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡(pachydermoperiostosis, PDP)ใฏๅคช้ผ“ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽš๏ผˆ่„ณๅ›ž่ปข็Šถ้ ญ็šฎใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2ๆฌกๆ€ง๏ผˆ็ถš็™บๆ€ง๏ผ‰ใจใ—ใฆ่‚บใŒใ‚“ใชใฉใฎ่ƒธ่…”ๅ†…็–พๆ‚ฃใซใ‚ˆใ‚‹ใ‚‚ใฎใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€ง่‚ฅๅคงๆ€ง้ชจ้–ข็ฏ€็—‡๏ผˆprimary hypertrophic osteoarthropathy, PHO)ใ‚‚็พๅœจใงใฏๅŽŸๅ› ้บไผๅญใŒๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€้ชจใƒป้–ข็ฏ€็—‡็Šถใซ็€็›ฎใ—ใŸ็—…ๅใง็šฎ่†š็—‡็Šถใฎๆœ‰็„กใ‚’ๅ•ใ‚ใชใ„ใ€‚1868ๅนดใ€FriedreichใŒใ€๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ๆœฌ็—‡ใงใฏๅคšๅฝฉใชๅˆไฝต็—‡ใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅคšๆฑ—็—‡ใ€็œผ็žผไธ‹ๅž‚ใ€่„ฑๆฏ›ใ€ไธ‹่…ฟๆฝฐ็˜ใซๅŠ ใˆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใจใ—ใฆ10ไปฃใ‹ใ‚‰ใฎ่ƒƒใƒปๅไบŒๆŒ‡่…ธๆฝฐ็˜ใ‚„่ƒƒ็ฒ˜่†œๅทจๅคง่ฅžๅฃใ‚„้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅพŒ่€…ใฏๆœ€่ฟ‘ๅŽŸๅ› ้บไผๅญใŒๆœฌ็—‡ใจๅŒไธ€ใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใ€ๆœฌ็—‡ใฎ้‡่ฆใชๅˆไฝต็—‡ใจไฝ็ฝฎใฅใ‘ใ‚‰ใ‚ŒใŸใ€‚ใใฎใปใ‹้ชจ้ซ„็ทš็ถญ็—‡ใ‚„ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ€็šฎ่†šใƒป้ชจใฎใฟใชใ‚‰ใšๅคšใใฎ่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ™็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2201004 - + + 11 + ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡(pachydermoperiostosis, PDP)ใฏๅคช้ผ“ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽš๏ผˆ่„ณๅ›ž่ปข็Šถ้ ญ็šฎใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2ๆฌกๆ€ง๏ผˆ็ถš็™บๆ€ง๏ผ‰ใจใ—ใฆ่‚บใŒใ‚“ใชใฉใฎ่ƒธ่…”ๅ†…็–พๆ‚ฃใซใ‚ˆใ‚‹ใ‚‚ใฎใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€ง่‚ฅๅคงๆ€ง้ชจ้–ข็ฏ€็—‡๏ผˆprimary hypertrophic osteoarthropathy, PHO)ใ‚‚็พๅœจใงใฏๅŽŸๅ› ้บไผๅญใŒๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€้ชจใƒป้–ข็ฏ€็—‡็Šถใซ็€็›ฎใ—ใŸ็—…ๅใง็šฎ่†š็—‡็Šถใฎๆœ‰็„กใ‚’ๅ•ใ‚ใชใ„ใ€‚1868ๅนดใ€FriedreichใŒใ€๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ๆœฌ็—‡ใงใฏๅคšๅฝฉใชๅˆไฝต็—‡ใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅคšๆฑ—็—‡ใ€็œผ็žผไธ‹ๅž‚ใ€่„ฑๆฏ›ใ€ไธ‹่…ฟๆฝฐ็˜ใซๅŠ ใˆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใจใ—ใฆ10ไปฃใ‹ใ‚‰ใฎ่ƒƒใƒปๅไบŒๆŒ‡่…ธๆฝฐ็˜ใ‚„่ƒƒ็ฒ˜่†œๅทจๅคง่ฅžๅฃใ‚„้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅพŒ่€…ใฏๆœ€่ฟ‘ๅŽŸๅ› ้บไผๅญใŒๆœฌ็—‡ใจๅŒไธ€ใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใ€ๆœฌ็—‡ใฎ้‡่ฆใชๅˆไฝต็—‡ใจไฝ็ฝฎใฅใ‘ใ‚‰ใ‚ŒใŸใ€‚ใใฎใปใ‹้ชจ้ซ„็ทš็ถญ็—‡ใ‚„ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ€็šฎ่†šใƒป้ชจใฎใฟใชใ‚‰ใšๅคšใใฎ่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ™็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2201004 + pachydermoperiostosis + ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ† ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡ + - + ่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡ - - 13 - ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏๆฏ›้ซชใ€ๆญฏ็‰™ใ€็ˆชใ€ๆฑ—่…บใฎๅฝขๆˆไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธป่ฆใช่‡จๅบŠๅพดๅ€™ใฏใ€็šฎ่†šใจไป˜ๅฑžๅ™จใฎๅฝขๆˆไธๅ…จๅŠใณ็‰นๅพด็š„้ก”่ฒŒใงใ‚ใ‚Šใ€ใใฎ็—‡็Šถใฏๆฐธ็ถš็š„ใง้€ฒ่กŒใฏใ—ใชใ„ใ€‚ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹็„กๆฑ—(ไฝŽๆฑ—)ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏใ€1929ๅนดWeechใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงใซ150๏ฝž200ใ‚’่ถ…ใˆใ‚‹็—…ๅž‹ใŒ่จ˜่ผ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2201005 - - anhidrotic ectodermal dysplsia + + 13 + ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏๆฏ›้ซชใ€ๆญฏ็‰™ใ€็ˆชใ€ๆฑ—่…บใฎๅฝขๆˆไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธป่ฆใช่‡จๅบŠๅพดๅ€™ใฏใ€็šฎ่†šใจไป˜ๅฑžๅ™จใฎๅฝขๆˆไธๅ…จๅŠใณ็‰นๅพด็š„้ก”่ฒŒใงใ‚ใ‚Šใ€ใใฎ็—‡็Šถใฏๆฐธ็ถš็š„ใง้€ฒ่กŒใฏใ—ใชใ„ใ€‚ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹็„กๆฑ—(ไฝŽๆฑ—)ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏใ€1929ๅนดWeechใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงใซ150๏ฝž200ใ‚’่ถ…ใˆใ‚‹็—…ๅž‹ใŒ่จ˜่ผ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2201005 + + anhidrotic ectodermal dysplasia + ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ ็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ - + + ็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ - - 3 - ใ‚นใƒ†ใ‚ฃใƒผใƒ–ใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค(SJS:Stevens-Johnson ็—‡ๅ€™็พค๏ผ‰ใฏใ€38โ„ƒไปฅไธŠใฎ้ซ˜็†ฑใ‚’ไผดใ„ๅ…จ่บซใฎ็šฎ่†šใซ็ด…ๆ–‘ใ‚„ๆฐด็–ฑใƒปใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ€็œผ็ต่†œใ‚„่ง’่†œใ€ๅฃๅ”‡ใƒปๅฃ่…”็ฒ˜่†œใ€้™ฐ้ƒจใชใฉใซใณใ‚‰ใ‚“ใ‚„ๅ‡บ่ก€ใจใ„ใฃใŸ้‡็ฏคใช็ฒ˜่†œ็–นใ‚’่ชใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ใฏ็šฎ่†šใฎใณใ‚‰ใ‚“้ข็ฉใŒ10๏ผ…ไปฅไธŠใซๆ‹กๅคงใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใ€‚็œผ็—‡็ŠถใŒๅผทใ„ๅ ดๅˆใซใฏใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ่ฆ–ๅŠ›ใฎไฝŽไธ‹ใ‚„ๅคฑๆ˜ŽใชใฉใฎๅพŒ้บ็—‡ใŒๆฎ‹ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซ่จบๆ–ญใ—ใฆ้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้–‹ๅง‹ใ—ใชใ„ใจ็”Ÿๅ‘ฝใซ้–ขใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ - 2201006 - + + 3 + ใ‚นใƒ†ใ‚ฃใƒผใƒ–ใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค(SJS:Stevens-Johnson ็—‡ๅ€™็พค๏ผ‰ใฏใ€38โ„ƒไปฅไธŠใฎ้ซ˜็†ฑใ‚’ไผดใ„ๅ…จ่บซใฎ็šฎ่†šใซ็ด…ๆ–‘ใ‚„ๆฐด็–ฑใƒปใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ€็œผ็ต่†œใ‚„่ง’่†œใ€ๅฃๅ”‡ใƒปๅฃ่…”็ฒ˜่†œใ€้™ฐ้ƒจใชใฉใซใณใ‚‰ใ‚“ใ‚„ๅ‡บ่ก€ใจใ„ใฃใŸ้‡็ฏคใช็ฒ˜่†œ็–นใ‚’่ชใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ใฏ็šฎ่†šใฎใณใ‚‰ใ‚“้ข็ฉใŒ10๏ผ…ไปฅไธŠใซๆ‹กๅคงใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใ€‚็œผ็—‡็ŠถใŒๅผทใ„ๅ ดๅˆใซใฏใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ่ฆ–ๅŠ›ใฎไฝŽไธ‹ใ‚„ๅคฑๆ˜ŽใชใฉใฎๅพŒ้บ็—‡ใŒๆฎ‹ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซ่จบๆ–ญใ—ใฆ้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้–‹ๅง‹ใ—ใชใ„ใจ็”Ÿๅ‘ฝใซ้–ขใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ + NANDO:2201006 + Stevens-Johnson syndrome + ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค + - + Stevens-Johnson็—‡ๅ€™็พค ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค - - 3 - 2201007 - + + 3 + NANDO:2201007 + Toxic epidermal necrolysis + ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ† ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ + - + + TEN ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ - - 1 - ่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค(Thoracic insufficiency syndrome)ใฏใ€ๅฐๅ…ใฎๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š่ƒธ้ƒญ๏ผˆๆจช้š”่†œใ€่„ŠๆŸฑใ‚’ๅซใ‚€๏ผ‰ใฎๆˆ้•ท้šœๅฎณใจใใ‚Œใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ๅฝขๆ…‹็•ฐๅธธใซใ‚ˆใ‚Šๆญฃๅธธใช่‚บใฎๆˆ้•ทใŒๅฆจใ’ใ‚‰ใ‚Œใ€ๅ‘ผๅธๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใŸ็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ็‰นๅพดใฏใ€่จบๆ–ญๆ™‚ๅ…จใๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใชใใฆใ‚‚ใใ‚ŒไปฅๅพŒใฎๆˆ้•ท้šœๅฎณใซใ‚ˆใ‚Šๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ“ใจใŒไบˆๆƒณใงใใ‚‹็—…ๆ…‹ใซใฏ้šœๅฎณ็™บ็”Ÿไปฅๅ‰ใงใ‚‚่จบๆ–ญใ‚’ใคใ‘ใ‚‹ใ“ใจใŒใงใใ‚‹็‚นใงใ‚ใ‚‹ใ€‚ใ“ใฎ็‚นใŒๅ…จใไป–ใฎ็–พๆ‚ฃ็พคใจใฏ็•ฐใชใ‚‹็‚นใงใ‚ใ‚Šใ€ใใฎ็†็”ฑใจใ—ใฆ่„ŠๆŸฑใƒป่ƒธ้ƒญใฎๅค‰ๅฝขใ‚„ๆˆ้•ท้šœๅฎณใฏไธ€ๆ—ฆ้ซ˜ๅบฆใซๆ‚ชๅŒ–ใ™ใ‚‹ใจใ€ไพ‹ใˆๆ‰‹่ก“ใ‚’ใ—ใฆใ‚‚ๆฉŸ่ƒฝ้šœๅฎณใŒๆ”นๅ–„ใ™ใ‚‹ใ“ใจใŒใปใจใ‚“ใฉไธๅฏ่ƒฝใซใชใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€ๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซ่ƒธ้ƒญใ‚’ๅฝขๆˆใ™ใ‚‹่‚‹้ชจใ€่„ŠๆŸฑใฎ้ชจๆ€ง่ฆ็ด ใจ่ƒธ้ƒญๆฉŸ่ƒฝใซ้–ขไธŽใ™ใ‚‹ๆจช้š”่†œใ€่‚‹้–“็ญ‹ใ€ไฝ“ๅนน็ญ‹๏ผˆ่ตท็ซ‹็ญ‹๏ผ‰ใ€ใใ—ใฆใใ‚Œใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใ™ใ‚‹็ฅž็ตŒๆฉŸ่ƒฝใฎใฉใ“ใซ้šœๅฎณใŒ็”Ÿใ˜ใฆใ‚‚็”Ÿใ˜ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ - 2201008 - + + 1 + ่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค(Thoracic insufficiency syndrome)ใฏใ€ๅฐๅ…ใฎๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š่ƒธ้ƒญ๏ผˆๆจช้š”่†œใ€่„ŠๆŸฑใ‚’ๅซใ‚€๏ผ‰ใฎๆˆ้•ท้šœๅฎณใจใใ‚Œใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ๅฝขๆ…‹็•ฐๅธธใซใ‚ˆใ‚Šๆญฃๅธธใช่‚บใฎๆˆ้•ทใŒๅฆจใ’ใ‚‰ใ‚Œใ€ๅ‘ผๅธๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใŸ็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ็‰นๅพดใฏใ€่จบๆ–ญๆ™‚ๅ…จใๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใชใใฆใ‚‚ใใ‚ŒไปฅๅพŒใฎๆˆ้•ท้šœๅฎณใซใ‚ˆใ‚Šๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ“ใจใŒไบˆๆƒณใงใใ‚‹็—…ๆ…‹ใซใฏ้šœๅฎณ็™บ็”Ÿไปฅๅ‰ใงใ‚‚่จบๆ–ญใ‚’ใคใ‘ใ‚‹ใ“ใจใŒใงใใ‚‹็‚นใงใ‚ใ‚‹ใ€‚ใ“ใฎ็‚นใŒๅ…จใไป–ใฎ็–พๆ‚ฃ็พคใจใฏ็•ฐใชใ‚‹็‚นใงใ‚ใ‚Šใ€ใใฎ็†็”ฑใจใ—ใฆ่„ŠๆŸฑใƒป่ƒธ้ƒญใฎๅค‰ๅฝขใ‚„ๆˆ้•ท้šœๅฎณใฏไธ€ๆ—ฆ้ซ˜ๅบฆใซๆ‚ชๅŒ–ใ™ใ‚‹ใจใ€ไพ‹ใˆๆ‰‹่ก“ใ‚’ใ—ใฆใ‚‚ๆฉŸ่ƒฝ้šœๅฎณใŒๆ”นๅ–„ใ™ใ‚‹ใ“ใจใŒใปใจใ‚“ใฉไธๅฏ่ƒฝใซใชใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€ๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซ่ƒธ้ƒญใ‚’ๅฝขๆˆใ™ใ‚‹่‚‹้ชจใ€่„ŠๆŸฑใฎ้ชจๆ€ง่ฆ็ด ใจ่ƒธ้ƒญๆฉŸ่ƒฝใซ้–ขไธŽใ™ใ‚‹ๆจช้š”่†œใ€่‚‹้–“็ญ‹ใ€ไฝ“ๅนน็ญ‹๏ผˆ่ตท็ซ‹็ญ‹๏ผ‰ใ€ใใ—ใฆใใ‚Œใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใ™ใ‚‹็ฅž็ตŒๆฉŸ่ƒฝใฎใฉใ“ใซ้šœๅฎณใŒ็”Ÿใ˜ใฆใ‚‚็”Ÿใ˜ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ + NANDO:2201008 + Thoracic insufficiency syndrome + ใใ‚‡ใ†ใ‹ใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค - + + ่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค - - 13 - ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎ่‘—ใ—ใ„ไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ข็Ÿญ็ธฎใฏ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใใ‚ใ‚‰ใ‚ใ‚Œใ‚‹ใ€‚ใ“ใฎใปใ‹ใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ่„ณ้ ญ่“‹ใŒ็›ธๅฏพ็š„ใซๅคงใใ„ใ€ๅ‰้ก้ƒจใฎ็ชๅ‡บใ€้ผปๆ น้ƒจใฎ้™ฅๅ‡นใ€้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆใ€ไธ‹้กŽใŒ็›ธๅฏพ็š„ใซ็ชๅ‡บ๏ผ‰ใ€ไธ‰ๅฐ–ๆ‰‹๏ผˆๆŒ‡ใฏ็Ÿญใใ€ไผธใฐใ™ใจไธญๆŒ‡ใจ่–ฌๆŒ‡ใฎ้–“ใŒ้›ขใ‚Œใ‚‹๏ผ‰ใ€ไธ‹้ƒจ่…ฐๆคŽใฎๅ‰ๅฝŽใŒๅผทใ„ใŸใ‚ใฎ่‡€้ƒจใฎๅพŒๆ–น็ชๅ‡บใŒ่บซไฝ“็š„ใช็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปฝ็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2201009 - + + 13 + ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎ่‘—ใ—ใ„ไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ข็Ÿญ็ธฎใฏ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใใ‚ใ‚‰ใ‚ใ‚Œใ‚‹ใ€‚ใ“ใฎใปใ‹ใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ่„ณ้ ญ่“‹ใŒ็›ธๅฏพ็š„ใซๅคงใใ„ใ€ๅ‰้ก้ƒจใฎ็ชๅ‡บใ€้ผปๆ น้ƒจใฎ้™ฅๅ‡นใ€้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆใ€ไธ‹้กŽใŒ็›ธๅฏพ็š„ใซ็ชๅ‡บ๏ผ‰ใ€ไธ‰ๅฐ–ๆ‰‹๏ผˆๆŒ‡ใฏ็Ÿญใใ€ไผธใฐใ™ใจไธญๆŒ‡ใจ่–ฌๆŒ‡ใฎ้–“ใŒ้›ขใ‚Œใ‚‹๏ผ‰ใ€ไธ‹้ƒจ่…ฐๆคŽใฎๅ‰ๅฝŽใŒๅผทใ„ใŸใ‚ใฎ่‡€้ƒจใฎๅพŒๆ–น็ชๅ‡บใŒ่บซไฝ“็š„ใช็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปฝ็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2201009 + Achondroplasia + ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ + - - + ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ - - 12 - ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใ„ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซไผผใŸใƒฌใƒณใƒˆใ‚ฒใƒณๆ‰€่ฆ‹ใ‚’ใ—ใ‚ใ™ใŒใ€็จ‹ๅบฆใฏ่ปฝใๆญฃๅธธใซ่ฟ‘ใ„ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ้‡็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ - 2201010 - + + 12 + ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใ„ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซไผผใŸใƒฌใƒณใƒˆใ‚ฒใƒณๆ‰€่ฆ‹ใ‚’ใ—ใ‚ใ™ใŒใ€็จ‹ๅบฆใฏ่ปฝใๆญฃๅธธใซ่ฟ‘ใ„ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ้‡็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2201010 + Hypochondroplasia + ใชใ‚“ใ“ใคใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ - + ่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ - - 3 - ้ชจๅฝขๆˆไธๅ…จ็—‡ใจใฏ๏ผŒๆ˜“้ชจๆŠ˜ๆ€ง๏ผŒ้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใชใฉใฎ้ชจ่„†ๅผฑๆ€ง็—‡็ŠถใซๅŠ ใˆ๏ผŒๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ - 2201011 - + + 3 + ้ชจๅฝขๆˆไธๅ…จ็—‡ใจใฏ๏ผŒๆ˜“้ชจๆŠ˜ๆ€ง๏ผŒ้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใชใฉใฎ้ชจ่„†ๅผฑๆ€ง็—‡็ŠถใซๅŠ ใˆ๏ผŒๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ + NANDO:2201011 + Osteogenesis imperfecta + ใ“ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† ้ชจๅฝขๆˆไธๅ…จ็—‡ - - + - - + ้ชจๅฝขๆˆไธๅ…จ็—‡ - - 8 - ็ต„็น”้ž็‰น็•ฐ็š„ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰้บไผๅญใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š้ชจใฎ็Ÿณ็ฐๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใพใŸใฏๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‡็—‡ๅบฆใ€็™บ็—‡ๆ™‚ๆœŸใชใฉใซใ‚ˆใ‚Šใ€6็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽๅ‘จ็”ฃๆœŸ้‡็—‡ๅž‹ใ€€ๆœ€ใ‚‚้‡็—‡ใช็—…ๅž‹ใงใ€ๅ‡บ็”Ÿๆ™‚ใซๅ››่‚ข็Ÿญ็ธฎใ€้ ญๅ›ฒใฎ็›ธๅฏพ็š„ๆ‹กๅคงใ€็‹ญใ„่ƒธ้ƒญใ‚’่ชใ‚ใ‚‹ใ€‚X็ทšใงใ€ๅ…จ่บซ้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€้•ท็ฎก้ชจใฎๅค‰ๅฝขใ€ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚๏ผ’๏ผŽๅ‘จ็”ฃๆœŸ่ปฝ็—‡ๅž‹๏ผš้ชจๅค‰ๅฝขใชใฉใ‹ใ‚‰่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡็—‡ไพ‹ใฎใชใ‹ใซใ€่‰ฏๅฅฝใช้ชจ็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝใช็—…ๅž‹ใ€‚ๆ—ฅๆœฌไบบไพ‹ใงใฏใ€ALP้บไผๅญF310Lใจใฎ้–ข้€ฃใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ“๏ผŽไนณๅ…ๅž‹๏ผšใ€€็”ŸๅพŒ6ใ‹ๆœˆใพใงใซ็™บ็—‡ใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๅž‹ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽๅฐๅ…ๅž‹๏ผšๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง้‡็—‡ๅบฆใฏใ•ใพใ–ใพใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸๅ–ชๅคฑใ‚’ไผดใ†ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚๏ผ•๏ผŽๆˆไบบๅž‹๏ผšๆˆไบบๆœŸใŠใ‚‚ใซไธญๅนดๆœŸใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง็—…็š„้ชจๆŠ˜ใ€้ชจ็—›ใซใ‚ˆใฃใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚๏ผ–๏ผŽๆญฏ้™ๅฑ€ๅž‹๏ผš้ชจใซ็—…ๅค‰ใŒ้™ๅฑ€ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸ่„ฑ่ฝใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ - 2201012 - + + 8 + ็ต„็น”้ž็‰น็•ฐ็š„ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰้บไผๅญใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š้ชจใฎ็Ÿณ็ฐๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใพใŸใฏๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‡็—‡ๅบฆใ€็™บ็—‡ๆ™‚ๆœŸใชใฉใซใ‚ˆใ‚Šใ€6็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽๅ‘จ็”ฃๆœŸ้‡็—‡ๅž‹ใ€€ๆœ€ใ‚‚้‡็—‡ใช็—…ๅž‹ใงใ€ๅ‡บ็”Ÿๆ™‚ใซๅ››่‚ข็Ÿญ็ธฎใ€้ ญๅ›ฒใฎ็›ธๅฏพ็š„ๆ‹กๅคงใ€็‹ญใ„่ƒธ้ƒญใ‚’่ชใ‚ใ‚‹ใ€‚X็ทšใงใ€ๅ…จ่บซ้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€้•ท็ฎก้ชจใฎๅค‰ๅฝขใ€ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚๏ผ’๏ผŽๅ‘จ็”ฃๆœŸ่ปฝ็—‡ๅž‹๏ผš้ชจๅค‰ๅฝขใชใฉใ‹ใ‚‰่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡็—‡ไพ‹ใฎใชใ‹ใซใ€่‰ฏๅฅฝใช้ชจ็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝใช็—…ๅž‹ใ€‚ๆ—ฅๆœฌไบบไพ‹ใงใฏใ€ALP้บไผๅญF310Lใจใฎ้–ข้€ฃใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ“๏ผŽไนณๅ…ๅž‹๏ผšใ€€็”ŸๅพŒ6ใ‹ๆœˆใพใงใซ็™บ็—‡ใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๅž‹ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽๅฐๅ…ๅž‹๏ผšๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง้‡็—‡ๅบฆใฏใ•ใพใ–ใพใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸๅ–ชๅคฑใ‚’ไผดใ†ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚๏ผ•๏ผŽๆˆไบบๅž‹๏ผšๆˆไบบๆœŸใŠใ‚‚ใซไธญๅนดๆœŸใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง็—…็š„้ชจๆŠ˜ใ€้ชจ็—›ใซใ‚ˆใฃใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚๏ผ–๏ผŽๆญฏ้™ๅฑ€ๅž‹๏ผš้ชจใซ็—…ๅค‰ใŒ้™ๅฑ€ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸ่„ฑ่ฝใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ + NANDO:2201012 + Hypophosphatasia + ใฆใ„ใปใ™ใตใใŸใƒผใœใ—ใ‚‡ใ† ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ - + - + ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ - - 6 - ๅ…จ่บซใฎ้ชจ็กฌๅŒ–ใ€้€ ่ก€่ƒฝ้šœๅฎณใ€ๆ˜“้ชจๆŠ˜ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๆ—ฉ็™บๅž‹ใ€้…็™บๅž‹ใ€ไธญ้–“ๅž‹ใ€่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹ใฎ4็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚๏ผ‘๏ผŽๆ—ฉ็™บๅž‹๏ผšๅ‡บ็”Ÿๆ™‚ใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅคงๅŠใŒๅญฆ็ซฅๆœŸใพใงใซๆญปไบกใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ้‡็—‡ๅž‹ใ€‚่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซๅคงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ ญ่“‹้ชจใฎ็กฌๅŒ–ใ€ๅค‰ๅฝขใ€่ฆ–ๅŠ›่ดๅŠ›ใฎ้šœๅฎณใ€็ฒพ็ฅž็™บ้”้šœๅฎณใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ’๏ผŽ้…็™บๅž‹๏ผšๅ˜็ด”X็ทšใ‚’ๆ’ฎๅฝฑใ—ใŸ้š›ใซใ€ๅถ็„ถใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹่‰ฏๆ€งๅž‹ใงใ‚ใ‚‹ใ€‚่ฒง่ก€ใ€่‚่„พ่…ซใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ้šœๅฎณใฏๅฐ‘ใชใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ“๏ผŽไธญ้–“ๅž‹๏ผšๆ—ฉ็™บๅž‹ใจ้…็™บๅž‹ใฎไธญ้–“ใฎใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽ่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹๏ผš่…Žๅฐฟ็ดฐ็ฎกใชใฉใซ็™บ่จ€ใ—ใฆใ„ใ‚‹็‚ญ้…ธ่„ฑๆฐด้…ต็ด โ…กๅž‹ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ - 2201013 - + + 6 + ๅ…จ่บซใฎ้ชจ็กฌๅŒ–ใ€้€ ่ก€่ƒฝ้šœๅฎณใ€ๆ˜“้ชจๆŠ˜ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๆ—ฉ็™บๅž‹ใ€้…็™บๅž‹ใ€ไธญ้–“ๅž‹ใ€่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹ใฎ4็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚๏ผ‘๏ผŽๆ—ฉ็™บๅž‹๏ผšๅ‡บ็”Ÿๆ™‚ใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅคงๅŠใŒๅญฆ็ซฅๆœŸใพใงใซๆญปไบกใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ้‡็—‡ๅž‹ใ€‚่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซๅคงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ ญ่“‹้ชจใฎ็กฌๅŒ–ใ€ๅค‰ๅฝขใ€่ฆ–ๅŠ›่ดๅŠ›ใฎ้šœๅฎณใ€็ฒพ็ฅž็™บ้”้šœๅฎณใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ’๏ผŽ้…็™บๅž‹๏ผšๅ˜็ด”X็ทšใ‚’ๆ’ฎๅฝฑใ—ใŸ้š›ใซใ€ๅถ็„ถใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹่‰ฏๆ€งๅž‹ใงใ‚ใ‚‹ใ€‚่ฒง่ก€ใ€่‚่„พ่…ซใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ้šœๅฎณใฏๅฐ‘ใชใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ“๏ผŽไธญ้–“ๅž‹๏ผšๆ—ฉ็™บๅž‹ใจ้…็™บๅž‹ใฎไธญ้–“ใฎใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽ่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹๏ผš่…Žๅฐฟ็ดฐ็ฎกใชใฉใซ็™บ่จ€ใ—ใฆใ„ใ‚‹็‚ญ้…ธ่„ฑๆฐด้…ต็ด โ…กๅž‹ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ + NANDO:2201013 + Osteopetrosis + ใ ใ„ใ‚Šใ›ใใ“ใคใณใ‚‡ใ† ๅคง็†็Ÿณ้ชจ็—… - + - + ๅคง็†็Ÿณ้ชจ็—… - - 7 - ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅค–้ชจ่…ซ๏ผˆ้ชจ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ๅค–้ชจ่…ซใฏๆˆ้•ทใจใจใ‚‚ใซๅคงใใใชใ‚Šใ€็šฎไธ‹่…ซ็˜คใจใ—ใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚่…ซ็˜ใฏๅทฆๅณๅฏพ็งฐๆ€งใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒๅคšใใ€ ่†ๅ‘จๅ›ฒใฎๅคง่…ฟ้ชจ้ ไฝใŠใ‚ˆใณ่„›้ชจ่ฟ‘ไฝใซๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๅค–้ชจ่…ซใฎๅคšใใฏ้ชจๅนน็ซฏใซ่…ซ็˜คใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใ€ ้–ข็ฏ€่ฟ‘ๅ‚ใฎ่…ซ็˜คใซใ‚ˆใ‚Š้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€้ชจ็ซฏๆˆ้•ท้šœๅฎณใ‚’ใใŸใ™็ตๆžœใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ Langer-Giedion็—‡ไพฏ็พคใฏๆฏ›้ซช้ผปๆŒ‡็ฏ€็•ฐๅฝขๆˆ็—‡2ๅž‹ใงใ€ๅคš็™บๆ€งๅค–้ชจ่…ซใ‚’ไธป็—‡็Šถใซๅซใฟใ€EXT1ๅ–ชๅคฑใ‚’ๅซใ‚€้บไผๅญๆฌ ๅคฑใ‚’็คบใ™ใŸใ‚ๆœฌ็–พๆ‚ฃใซๅซใ‚ใ‚‹ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ ็จ€ใซๅค–้ชจ่…ซใŒๆ‚ชๆ€งๅŒ–๏ผˆ่ปŸ้ชจ่‚‰่…ซใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผ‰ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2201014 - + + 7 + ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅค–้ชจ่…ซ๏ผˆ้ชจ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ๅค–้ชจ่…ซใฏๆˆ้•ทใจใจใ‚‚ใซๅคงใใใชใ‚Šใ€็šฎไธ‹่…ซ็˜คใจใ—ใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚่…ซ็˜ใฏๅทฆๅณๅฏพ็งฐๆ€งใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒๅคšใใ€ ่†ๅ‘จๅ›ฒใฎๅคง่…ฟ้ชจ้ ไฝใŠใ‚ˆใณ่„›้ชจ่ฟ‘ไฝใซๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๅค–้ชจ่…ซใฎๅคšใใฏ้ชจๅนน็ซฏใซ่…ซ็˜คใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใ€ ้–ข็ฏ€่ฟ‘ๅ‚ใฎ่…ซ็˜คใซใ‚ˆใ‚Š้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€้ชจ็ซฏๆˆ้•ท้šœๅฎณใ‚’ใใŸใ™็ตๆžœใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ Langer-Giedion็—‡ไพฏ็พคใฏๆฏ›้ซช้ผปๆŒ‡็ฏ€็•ฐๅฝขๆˆ็—‡2ๅž‹ใงใ€ๅคš็™บๆ€งๅค–้ชจ่…ซใ‚’ไธป็—‡็Šถใซๅซใฟใ€EXT1ๅ–ชๅคฑใ‚’ๅซใ‚€้บไผๅญๆฌ ๅคฑใ‚’็คบใ™ใŸใ‚ๆœฌ็–พๆ‚ฃใซๅซใ‚ใ‚‹ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ ็จ€ใซๅค–้ชจ่…ซใŒๆ‚ชๆ€งๅŒ–๏ผˆ่ปŸ้ชจ่‚‰่…ซใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผ‰ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2201014 + Multiple cartilaginous exostosis + ใŸใฏใคใ›ใ„ใชใ‚“ใ“ใคใ›ใ„ใŒใ„ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ† ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ - + Hereditary multiple exostosis ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ - - 11 - ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅ†…่ปŸ้ชจ่…ซ๏ผˆ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๆ€งใซ่…ซ็˜ใŒๅคš็™บใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ ไธกๅดๆ€งใ‚ใ‚‹ใ„ใฏไบคๅ‰ๆ€งใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใฏ็Ÿญ็ฎก้ชจใซๅฅฝ็™บใ™ใ‚‹ใŒใ€้•ท็ฎก้ชจใ€่‚‹้ชจใ€้ชจ็›คใชใฉใฎ้ ปๅบฆใ‚‚้ซ˜ใ„ใ€‚ ๆˆ้•ทๆœŸใซ็ทฉๅพใซๅข—ๅคงใ—ใฆใ€้€ฒ่กŒๆ€งใซ้ชจใฎ่†จ้š†ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใŒๆˆ้•ท่ปŸ้ชจๆฟใฎ็™บ่‚ฒใ‚’ๅฆจใ’ใ‚‹ใŸใ‚ใ€็ฝนๆ‚ฃ้ƒจไฝใฎๅค‰ๅฝขใ‚„็Ÿญ็ธฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ ๆฉŸ่ƒฝ็š„ใซใฏ้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€่‘—ใ—ใ„ๆˆ้•ท้šœๅฎณใงใฎ่„š้•ทไธ็ญ‰ใ‚„ใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚ ้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚่ก€็ฎก่…ซใ‚’ไผดใ†ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏMaffucci็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ ๆˆไบบๆœŸไปฅ้™ใซ่ปŸ้ชจ่‚‰่…ซใชใฉใธๆ‚ชๆ€งๅŒ–ใ™ใ‚‹ๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ - 2201015 - + + 11 + ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅ†…่ปŸ้ชจ่…ซ๏ผˆ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๆ€งใซ่…ซ็˜ใŒๅคš็™บใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ ไธกๅดๆ€งใ‚ใ‚‹ใ„ใฏไบคๅ‰ๆ€งใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใฏ็Ÿญ็ฎก้ชจใซๅฅฝ็™บใ™ใ‚‹ใŒใ€้•ท็ฎก้ชจใ€่‚‹้ชจใ€้ชจ็›คใชใฉใฎ้ ปๅบฆใ‚‚้ซ˜ใ„ใ€‚ ๆˆ้•ทๆœŸใซ็ทฉๅพใซๅข—ๅคงใ—ใฆใ€้€ฒ่กŒๆ€งใซ้ชจใฎ่†จ้š†ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใŒๆˆ้•ท่ปŸ้ชจๆฟใฎ็™บ่‚ฒใ‚’ๅฆจใ’ใ‚‹ใŸใ‚ใ€็ฝนๆ‚ฃ้ƒจไฝใฎๅค‰ๅฝขใ‚„็Ÿญ็ธฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ ๆฉŸ่ƒฝ็š„ใซใฏ้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€่‘—ใ—ใ„ๆˆ้•ท้šœๅฎณใงใฎ่„š้•ทไธ็ญ‰ใ‚„ใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚ ้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚่ก€็ฎก่…ซใ‚’ไผดใ†ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏMaffucci็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ ๆˆไบบๆœŸไปฅ้™ใซ่ปŸ้ชจ่‚‰่…ซใชใฉใธๆ‚ชๆ€งๅŒ–ใ™ใ‚‹ๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2201015 + Enchondromatosis + ใชใ„ใชใ‚“ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ† ๅ†…่ปŸ้ชจ่…ซ็—‡ - + Dyschondroplasia Ollier disease Osteochondromatosis - ๅ†…่ปŸ้ชจ่…ซ็—‡ - - 14 - ๅคšใใฏ2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ๏ผˆCOL2A1๏ผ‰้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€X็ทš็š„ใซๅ…ฑ้€šใ—ใŸๆ‰€่ฆ‹ใŒใ‚ใ‚‹ๅคšๅฝฉใช่‡จๅบŠ่กจ็พๅž‹ใ‚’็คบใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ ่ƒŽๅ…ๆœŸใ‚„ๅ‡บ็”Ÿ็›ดๅพŒใซๅ‘จ็”ฃๆœŸๆญปไบกใ‚’่ตทใ“ใ™้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ๅฐๅ…ๆœŸไปฅ้™ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ไพ‹ใพใงๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่ปŸ้ชจๅŸบ่ณชใ‚’ๅฝขๆˆใ™ใ‚‹2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ้šœๅฎณใ•ใ‚Œๅ››่‚ขใ€ไฝ“ๅนนใจใ‚‚ใซ็Ÿญ็ธฎใ™ใ‚‹ใ€‚้–ข็ฏ€่ปŸ้ชจใ‚„ๆคŽ้–“ๆฟใฎๅŸบ่ณชใ‚‚ไพตใ•ใ‚Œใ‚‹ใŸใ‚ใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€๏ผˆ่„ŠๆคŽ๏ผ‰็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใพใŸใฏ็ช็„ถๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆคŽไฝ“ใ‚„้•ท็ฎก้ชจใฎ็•ฐๅธธใ‚„้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆ๏ผˆๅนณๅฆใช้ก”่ฒŒ๏ผ‰ใ€ ๅฐ้กŽ็—‡ใ‚’ๅ…ฑ้€šใฎ็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ…จ่บซ้ชจX็ทšไธŠใ€่„ŠๆคŽใƒป้ชจ็ซฏ็•ฐๅฝขๆˆใ‚’็‰นๅพดใจใ—ใ€ๅˆไฝต็—‡ใจใ—ใฆใ—ใฐใ—ใฐ้€ฒ่กŒๆ€ง่ฟ‘่ฆ–ใƒป้›ฃ่ดใƒปUๅญ—ๅž‹ใฎๅฃ่“‹่ฃ‚ใ‚’ไผดใ†ใ€‚ - 2201016 - + + 14 + ๅคšใใฏ2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ๏ผˆCOL2A1๏ผ‰้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€X็ทš็š„ใซๅ…ฑ้€šใ—ใŸๆ‰€่ฆ‹ใŒใ‚ใ‚‹ๅคšๅฝฉใช่‡จๅบŠ่กจ็พๅž‹ใ‚’็คบใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ ่ƒŽๅ…ๆœŸใ‚„ๅ‡บ็”Ÿ็›ดๅพŒใซๅ‘จ็”ฃๆœŸๆญปไบกใ‚’่ตทใ“ใ™้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ๅฐๅ…ๆœŸไปฅ้™ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ไพ‹ใพใงๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่ปŸ้ชจๅŸบ่ณชใ‚’ๅฝขๆˆใ™ใ‚‹2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ้šœๅฎณใ•ใ‚Œๅ››่‚ขใ€ไฝ“ๅนนใจใ‚‚ใซ็Ÿญ็ธฎใ™ใ‚‹ใ€‚้–ข็ฏ€่ปŸ้ชจใ‚„ๆคŽ้–“ๆฟใฎๅŸบ่ณชใ‚‚ไพตใ•ใ‚Œใ‚‹ใŸใ‚ใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€๏ผˆ่„ŠๆคŽ๏ผ‰็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใพใŸใฏ็ช็„ถๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆคŽไฝ“ใ‚„้•ท็ฎก้ชจใฎ็•ฐๅธธใ‚„้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆ๏ผˆๅนณๅฆใช้ก”่ฒŒ๏ผ‰ใ€ ๅฐ้กŽ็—‡ใ‚’ๅ…ฑ้€šใฎ็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ…จ่บซ้ชจX็ทšไธŠใ€่„ŠๆคŽใƒป้ชจ็ซฏ็•ฐๅฝขๆˆใ‚’็‰นๅพดใจใ—ใ€ๅˆไฝต็—‡ใจใ—ใฆใ—ใฐใ—ใฐ้€ฒ่กŒๆ€ง่ฟ‘่ฆ–ใƒป้›ฃ่ดใƒปUๅญ—ๅž‹ใฎๅฃ่“‹่ฃ‚ใ‚’ไผดใ†ใ€‚ + NANDO:2201016 + + 2ใŒใŸใ“ใ‚‰ใƒผใ’ใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ 2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ Type II collagenopathy - + + + + 2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ - - 10 - ้ชจ็ซฏ่ปŸ้ชจใจใใฎๅ‘จๅ›ฒ่ปŸ้ƒจ็ต„็น”ใฎ็‚น็Šถ็Ÿณ็ฐๅŒ–ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅคšใใฎ็–พๆ‚ฃใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ XๆŸ“่‰ฒไฝ“ๅ„ชๆ€งConradi-Hรผnermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX2๏ผ‰ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX1๏ผ‰ใ€ CHILD็—‡ๅ€™็พค๏ผˆๅ…ˆๅคฉๆ€ง็‰‡ๅด็•ฐๅฝขๆˆใ€้ญš้ฑ—็™ฌใ€ๅ››่‚ขๆฌ ๆ๏ผ‰ใ€Keutel็—‡ๅ€™็พคใ€Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ใ€่ฟ‘ไฝ่‚ขๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€ ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ใ‚’็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ‚ฐใƒซใƒผใƒ—ใจๅฎš็พฉใ—ใ€ CDPX1ใจๅŒๆง˜ใฎๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹ใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใƒฏใƒซใƒ•ใ‚กใƒชใƒณ่ƒŽ่Šฝ็—‡ใ€ใƒ“ใ‚ฟใƒŸใƒณKๆฌ ไน็—‡ใ€ SLE่ƒŽ่Šฝ็—‡ใชใฉใฎ็—‡ๅ€™ๆ€งใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚Š็จฎใ€…ใฎๅคงใใ็•ฐใชใฃใŸ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใงๅˆฅ้€”ๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ใŸใ‚ใ€ๆœฌ็–พ็—…ใ‹ใ‚‰ใฏ้™คใใ€‚ - 2201017 - - Chondrodysplasia punctata, excluding Peroxisomal disorders + + 10 + ้ชจ็ซฏ่ปŸ้ชจใจใใฎๅ‘จๅ›ฒ่ปŸ้ƒจ็ต„็น”ใฎ็‚น็Šถ็Ÿณ็ฐๅŒ–ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅคšใใฎ็–พๆ‚ฃใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ XๆŸ“่‰ฒไฝ“ๅ„ชๆ€งConradi-Hรผnermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX2๏ผ‰ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX1๏ผ‰ใ€ CHILD็—‡ๅ€™็พค๏ผˆๅ…ˆๅคฉๆ€ง็‰‡ๅด็•ฐๅฝขๆˆใ€้ญš้ฑ—็™ฌใ€ๅ››่‚ขๆฌ ๆ๏ผ‰ใ€Keutel็—‡ๅ€™็พคใ€Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ใ€่ฟ‘ไฝ่‚ขๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€ ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ใ‚’็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ‚ฐใƒซใƒผใƒ—ใจๅฎš็พฉใ—ใ€ CDPX1ใจๅŒๆง˜ใฎๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹ใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใƒฏใƒซใƒ•ใ‚กใƒชใƒณ่ƒŽ่Šฝ็—‡ใ€ใƒ“ใ‚ฟใƒŸใƒณKๆฌ ไน็—‡ใ€ SLE่ƒŽ่Šฝ็—‡ใชใฉใฎ็—‡ๅ€™ๆ€งใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚Š็จฎใ€…ใฎๅคงใใ็•ฐใชใฃใŸ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใงๅˆฅ้€”ๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ใŸใ‚ใ€ๆœฌ็–พ็—…ใ‹ใ‚‰ใฏ้™คใใ€‚ + NANDO:2201017 + + Chondrodysplasia punctata + ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ - + + ็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ - - 2 - ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ทใ€ไธ‹่‚ขใฎๅค‰ๅฝขใ€็ŸญๆŒ‡ใ€้–ข็ฏ€ๅผ›็ทฉๆ€งใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ็‰นใซ่ฟ‘ไฝ่‚ข็ฏ€ใฎ็Ÿญ็ธฎใŒ็›ฎ็ซ‹ใกใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซ้กžไผผใ—ใŸๅค–่ฆณใ‚’ๅ‘ˆใ—ใฆใ„ใ‚‹ใ“ใจใŒใ€ๆœฌ็—‡ใฎๅ็งฐ็”ฑๆฅใจใชใฃใฆใ„ใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใฏ็•ฐใชใ‚Šใ€้ก”่ฒŒใฏ้€šๅธธใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไฝŽ่บซ้•ทใฏ่‘—ๆ˜Žใงใ€ๆœ€็ต‚่บซ้•ทใฏ่ปฝ็—‡ๅž‹ใง-3๏ฝž-4SDใ€้‡็—‡ๅž‹ใง-6SDไปฅไธ‹ใจใชใ‚‹ใ€‚ ใพใŸใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใฎ็Ÿญ็ธฎใ‚„้–ข็ฏ€ๅผ›็ทฉๆ€งใŒ่‘—ใ—ใ„ใ€‚ๅ››่‚ขใฎๅคง้–ข็ฏ€ใงใ‚‚้–ข็ฏ€ๅผ›็ทฉๆ€งใฏ่‘—ๆ˜Žใงใ€่‘—ใ—ใ„ๅ†…ๅ่†ใพใŸใฏๅค–ๅ่†ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่‚˜้–ข็ฏ€ใ‚„่‚ก้–ข็ฏ€ใงใฏๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๆ—ฉๆœŸ๏ผˆ10ๆญณไปฃๅพŒๅŠใ‹ใ‚‰20ๆญณไปฃ๏ผ‰ใ‹ใ‚‰ไธ‹่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ€ๆ—ฉ็™บใฎๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใ€‚ - 2201018 - + + 2 + ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ทใ€ไธ‹่‚ขใฎๅค‰ๅฝขใ€็ŸญๆŒ‡ใ€้–ข็ฏ€ๅผ›็ทฉๆ€งใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ็‰นใซ่ฟ‘ไฝ่‚ข็ฏ€ใฎ็Ÿญ็ธฎใŒ็›ฎ็ซ‹ใกใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซ้กžไผผใ—ใŸๅค–่ฆณใ‚’ๅ‘ˆใ—ใฆใ„ใ‚‹ใ“ใจใŒใ€ๆœฌ็—‡ใฎๅ็งฐ็”ฑๆฅใจใชใฃใฆใ„ใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใฏ็•ฐใชใ‚Šใ€้ก”่ฒŒใฏ้€šๅธธใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไฝŽ่บซ้•ทใฏ่‘—ๆ˜Žใงใ€ๆœ€็ต‚่บซ้•ทใฏ่ปฝ็—‡ๅž‹ใง-3๏ฝž-4SDใ€้‡็—‡ๅž‹ใง-6SDไปฅไธ‹ใจใชใ‚‹ใ€‚ ใพใŸใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใฎ็Ÿญ็ธฎใ‚„้–ข็ฏ€ๅผ›็ทฉๆ€งใŒ่‘—ใ—ใ„ใ€‚ๅ››่‚ขใฎๅคง้–ข็ฏ€ใงใ‚‚้–ข็ฏ€ๅผ›็ทฉๆ€งใฏ่‘—ๆ˜Žใงใ€่‘—ใ—ใ„ๅ†…ๅ่†ใพใŸใฏๅค–ๅ่†ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่‚˜้–ข็ฏ€ใ‚„่‚ก้–ข็ฏ€ใงใฏๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๆ—ฉๆœŸ๏ผˆ10ๆญณไปฃๅพŒๅŠใ‹ใ‚‰20ๆญณไปฃ๏ผ‰ใ‹ใ‚‰ไธ‹่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ€ๆ—ฉ็™บใฎๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใ€‚ + NANDO:2201018 + Pseudoachondroplasia + ใŽใ›ใ„ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ + - + ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ - - 16 - ้ก”่ฒŒ็•ฐๅธธใ‚’ไผดใฃใŸๅคš็™บๆ€งๅ…ˆๅคฉๆ€ง่„ฑ่‡ผใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€1950ๅนดใƒฉใƒผใ‚ปใƒณใซใ‚ˆใ‚Šใฏใ˜ใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ ้–“่‘‰็ณป็ตๅˆ็ต„็น”ใฎๅฝขๆˆ็•ฐๅธธใŒไธปๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ€ๅ…ˆๅคฉๆ€งใƒปๅคš็™บๆ€งใฎ้ชจใŠใ‚ˆใณ้–ข็ฏ€็•ฐๅธธใ‚’ใใŸใ™ใ€‚ ่‡จๅบŠ็š„ใซใฏ้ก”่ฒŒ็•ฐๅธธ๏ผˆๅ‰้ ญ้ƒจ็ชๅ‡บใ€้ก”้ขไธญๅคฎ้ƒจใฎไฝŽๅฝขๆˆ๏ฝค็œผ้–“้–‹้›ขใ€ๅฐ้กŽใชใฉ๏ผ‰ใ€ๅคš็™บ้–ข็ฏ€้šœๅฎณ๏ผˆ่„ฑ่‡ผใ€ๆ‹˜็ธฎ๏ผ‰ใ€ ใธใ‚‰็ŠถใฎๆŒ‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็‰นใซ่‚กใ€่†ใ€่‚˜ใชใฉใฎๅคง้–ข็ฏ€ใฎๅคš็™บ่„ฑ่‡ผใจใ€ใปใผๅฟ…็™บใ™ใ‚‹ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎๅ†…ๅ่ถณใŒๅ•้กŒใจใชใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใฏ้ซ˜้ ปๅบฆใง่ชใ‚ใ€็‰นใซ้ ธๆคŽใฎๅพŒๅผฏใซไผดใ†้ ธ้ซ„็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ ๅฃ่“‹่ฃ‚ใ€ๆฐ—็ฎกใƒปๅ–‰้ ญ่ปŸๅŒ–็—‡ใ€้›ฃ่ดใ€ใชใฉ้ชจๆ ผๅค–ๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚ - 2201019 - + + 16 + ้ก”่ฒŒ็•ฐๅธธใ‚’ไผดใฃใŸๅคš็™บๆ€งๅ…ˆๅคฉๆ€ง่„ฑ่‡ผใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€1950ๅนดใƒฉใƒผใ‚ปใƒณใซใ‚ˆใ‚Šใฏใ˜ใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ ้–“่‘‰็ณป็ตๅˆ็ต„็น”ใฎๅฝขๆˆ็•ฐๅธธใŒไธปๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ€ๅ…ˆๅคฉๆ€งใƒปๅคš็™บๆ€งใฎ้ชจใŠใ‚ˆใณ้–ข็ฏ€็•ฐๅธธใ‚’ใใŸใ™ใ€‚ ่‡จๅบŠ็š„ใซใฏ้ก”่ฒŒ็•ฐๅธธ๏ผˆๅ‰้ ญ้ƒจ็ชๅ‡บใ€้ก”้ขไธญๅคฎ้ƒจใฎไฝŽๅฝขๆˆ๏ฝค็œผ้–“้–‹้›ขใ€ๅฐ้กŽใชใฉ๏ผ‰ใ€ๅคš็™บ้–ข็ฏ€้šœๅฎณ๏ผˆ่„ฑ่‡ผใ€ๆ‹˜็ธฎ๏ผ‰ใ€ ใธใ‚‰็ŠถใฎๆŒ‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็‰นใซ่‚กใ€่†ใ€่‚˜ใชใฉใฎๅคง้–ข็ฏ€ใฎๅคš็™บ่„ฑ่‡ผใจใ€ใปใผๅฟ…็™บใ™ใ‚‹ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎๅ†…ๅ่ถณใŒๅ•้กŒใจใชใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใฏ้ซ˜้ ปๅบฆใง่ชใ‚ใ€็‰นใซ้ ธๆคŽใฎๅพŒๅผฏใซไผดใ†้ ธ้ซ„็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ ๅฃ่“‹่ฃ‚ใ€ๆฐ—็ฎกใƒปๅ–‰้ ญ่ปŸๅŒ–็—‡ใ€้›ฃ่ดใ€ใชใฉ้ชจๆ ผๅค–ๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚ + NANDO:2201019 + Larsen syndrome + ใ‚‰ใƒผใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค - + Larsen็—‡ๅ€™็พค ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค - - 5 - ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆfibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ€้–‹ๅฃ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚็—…็Šถใฎ้€ฒ่กŒใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆๆดปๅ‹•๏ผ‰ใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง้ชจๅŒ–ใฏไธปใจใ—ใฆๅฐๅ…ๆœŸใซๅง‹ใพใ‚‹ใ€‚ๆณจๅฐ„ใ‚„ๆ‰‹่ก“ใชใฉใฎๅŒป็™‚่กŒ็‚บใ‚’ๅซใ‚€ๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใจใ—ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—๏ผˆflare-up๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹็‚Ž็—‡ๆ€งใฎ็šฎไธ‹่ปŸ้ƒจ็ต„็น”่…ซ่„นใซๅผ•ใ็ถšใ„ใฆ้ชจๅŒ–ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅค–ๅ‚ทใฎใชใ„ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚„ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚’็ตŒใชใ„้ชจๅŒ–ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚่ถณใฎๆฏ่ถพใซๅ…ˆๅคฉๆ€งใฎๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚Šใ€ใใ‚Œไปฅๅค–ใซใ€ๆ‰‹ใฎๆฏๆŒ‡ใฎไฝŽๅฝขๆˆใ€ๅฐๆŒ‡ใฎๅผฏๆ›ฒใ€้•ท็ฎก้ชจ้ชจๅนน็ซฏ้ƒจใฎๅค–้ชจ่…ซใ€็ฆฟ้ ญใ€่ดๅŠ›้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ - 2201020 - + + 5 + ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆfibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ€้–‹ๅฃ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚็—…็Šถใฎ้€ฒ่กŒใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆๆดปๅ‹•๏ผ‰ใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง้ชจๅŒ–ใฏไธปใจใ—ใฆๅฐๅ…ๆœŸใซๅง‹ใพใ‚‹ใ€‚ๆณจๅฐ„ใ‚„ๆ‰‹่ก“ใชใฉใฎๅŒป็™‚่กŒ็‚บใ‚’ๅซใ‚€ๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใจใ—ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—๏ผˆflare-up๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹็‚Ž็—‡ๆ€งใฎ็šฎไธ‹่ปŸ้ƒจ็ต„็น”่…ซ่„นใซๅผ•ใ็ถšใ„ใฆ้ชจๅŒ–ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅค–ๅ‚ทใฎใชใ„ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚„ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚’็ตŒใชใ„้ชจๅŒ–ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚่ถณใฎๆฏ่ถพใซๅ…ˆๅคฉๆ€งใฎๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚Šใ€ใใ‚Œไปฅๅค–ใซใ€ๆ‰‹ใฎๆฏๆŒ‡ใฎไฝŽๅฝขๆˆใ€ๅฐๆŒ‡ใฎๅผฏๆ›ฒใ€้•ท็ฎก้ชจ้ชจๅนน็ซฏ้ƒจใฎๅค–้ชจ่…ซใ€็ฆฟ้ ญใ€่ดๅŠ›้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ + NANDO:2201020 + fibrodysplasia ossificans progressiva + ใ—ใ‚“ใ“ใ†ใ›ใ„ใ“ใฃใ‹ใ›ใ„ใ›ใ‚“ใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡ + - - + ้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡ - - 9 - ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณ้€้Žๆ€งใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚‹TRPV4 ๏ผˆtransient receptor potential cation channel, subfamily V, member 4๏ผ‰ใฎ ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ€ๅค‰ๅฎนๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Maroteauxๅž‹ใ€่„ŠๆคŽ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Kozlowskiๅž‹ใ€ ็Ÿญไฝ“ๅนน็—‡ใ€็ŸญๆŒ‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€งๆŒ‡้–ข็ฏ€็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใซใŠใ„ใฆใ‚‚ๆ‰ๅนณๆคŽใ€้–ข็ฏ€ใฎ่…ซๅคงใŠใ‚ˆใณๆ‹˜็ธฎใ€ ไฝŽ่บซ้•ทใชใฉใ‚’ๅ…ฑ้€šใฎ่กจ็พๅž‹ใจใ™ใ‚‹ใŒใ€้‡็—‡ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่„ŠๆŸฑใ‚„ๅ››่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขใ‚’ไผดใ„ใ‚„ใ™ใใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚„ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใŸใ‚ใ€ใใ‚Œใ‚‰ใซๅฏพใ™ใ‚‹ๆ•ดๅฝขๅค–็ง‘็š„ใชๅฏพๅฟœใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ - 2201021 - - Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders + + 9 + ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณ้€้Žๆ€งใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚‹TRPV4 ๏ผˆtransient receptor potential cation channel, subfamily V, member 4๏ผ‰ใฎ ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ€ๅค‰ๅฎนๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Maroteauxๅž‹ใ€่„ŠๆคŽ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Kozlowskiๅž‹ใ€ ็Ÿญไฝ“ๅนน็—‡ใ€็ŸญๆŒ‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€งๆŒ‡้–ข็ฏ€็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใซใŠใ„ใฆใ‚‚ๆ‰ๅนณๆคŽใ€้–ข็ฏ€ใฎ่…ซๅคงใŠใ‚ˆใณๆ‹˜็ธฎใ€ ไฝŽ่บซ้•ทใชใฉใ‚’ๅ…ฑ้€šใฎ่กจ็พๅž‹ใจใ™ใ‚‹ใŒใ€้‡็—‡ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่„ŠๆŸฑใ‚„ๅ››่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขใ‚’ไผดใ„ใ‚„ใ™ใใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚„ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใŸใ‚ใ€ใใ‚Œใ‚‰ใซๅฏพใ™ใ‚‹ๆ•ดๅฝขๅค–็ง‘็š„ใชๅฏพๅฟœใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ + NANDO:2201021 + + Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders + ใฆใƒใ‚ใƒผใ‚‹ใดใƒผใถใ„4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡ - + + ๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡ - - 4 - ้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฏไธปใจใ—ใฆ็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…จ่บซๆ€งใซใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ๆฟƒๅŒ–็•ฐ้ชจ็—‡ใ€้ชจๆ–‘็ด‹็—‡ใ€้ชจ็ทš็Šถ็—‡ใ€ๆต่‹้ชจ็—‡ใ€็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ใ€้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ใ€้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡๏ผˆPyle็—…๏ผ‰ใ€้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ใ€็กฌๅŒ–ๆ€ง้ชจ็—‡ใชใฉใ‚’ๅซใ‚€ใ€‚X็ทšๆ‰€่ฆ‹ใจใ—ใฆใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ€้ชจ่‚ฅๅŽšใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏ้ ญ่“‹ๅ† ใ‚„้ ญ่“‹ๅบ•ใ€ไธ‹้กŽ้ชจใ€ๅ››่‚ข้•ท็ฎก้ชจใ‚„้Ž–้ชจใชใฉใซใ—ใฐใ—ใฐ่ชใ‚ใ‚‹ใ€‚้ชจ็กฌๅŒ–ๆ€ง็—…ๅค‰ใซไผดใ†่„ณ็ฅž็ตŒ้šœๅฎณใ‚„ๆ˜“้ชจๆŠ˜ๆ€งใ€้ชจ้ซ„็‚Žใชใฉใฎ็—‡็Šถใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€‚่„ณ็ฅž็ตŒใฎๅœง่ฟซใ‚’่งฃ้™คใ™ใ‚‹ใŸใ‚ใซใ€ๆ‰‹่ก“ๅŠ ็™‚ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ชจๆŠ˜ๆฒป็™’ใฏๆฅตใ‚ใฆ้…ๅปถใ—ใ€ใ—ใฐใ—ใฐๅฝ้–ข็ฏ€ใซ่‡ณใ‚‹ใ€‚ใพใŸใ€้ชจ้ซ„็‚Žใฏ้ทๅปถๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚ - 2201022 - + + 4 + ้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฏไธปใจใ—ใฆ็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…จ่บซๆ€งใซใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ๆฟƒๅŒ–็•ฐ้ชจ็—‡ใ€้ชจๆ–‘็ด‹็—‡ใ€้ชจ็ทš็Šถ็—‡ใ€ๆต่‹้ชจ็—‡ใ€็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ใ€้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ใ€้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡๏ผˆPyle็—…๏ผ‰ใ€้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ใ€็กฌๅŒ–ๆ€ง้ชจ็—‡ใชใฉใ‚’ๅซใ‚€ใ€‚X็ทšๆ‰€่ฆ‹ใจใ—ใฆใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ€้ชจ่‚ฅๅŽšใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏ้ ญ่“‹ๅ† ใ‚„้ ญ่“‹ๅบ•ใ€ไธ‹้กŽ้ชจใ€ๅ››่‚ข้•ท็ฎก้ชจใ‚„้Ž–้ชจใชใฉใซใ—ใฐใ—ใฐ่ชใ‚ใ‚‹ใ€‚้ชจ็กฌๅŒ–ๆ€ง็—…ๅค‰ใซไผดใ†่„ณ็ฅž็ตŒ้šœๅฎณใ‚„ๆ˜“้ชจๆŠ˜ๆ€งใ€้ชจ้ซ„็‚Žใชใฉใฎ็—‡็Šถใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€‚่„ณ็ฅž็ตŒใฎๅœง่ฟซใ‚’่งฃ้™คใ™ใ‚‹ใŸใ‚ใซใ€ๆ‰‹่ก“ๅŠ ็™‚ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ชจๆŠ˜ๆฒป็™’ใฏๆฅตใ‚ใฆ้…ๅปถใ—ใ€ใ—ใฐใ—ใฐๅฝ้–ข็ฏ€ใซ่‡ณใ‚‹ใ€‚ใพใŸใ€้ชจ้ซ„็‚Žใฏ้ทๅปถๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚ + NANDO:2201022 + osteosclerotic diseases + ใ“ใคใ“ใ†ใ‹ใ›ใ„ใ—ใฃใ‹ใ‚“ ้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ - + + ้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ - - 4 - ใ‚ซใƒ†ใƒ—ใ‚ทใƒณK๏ผˆCTSK๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ - 2201023 - + + 4 + ใ‚ซใƒ†ใƒ—ใ‚ทใƒณK๏ผˆCTSK๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2201023 + Pycnodysostosis + ใฎใ†ใ‹ใ„ใ“ใคใ—ใ‚‡ใ† ๆฟƒๅŒ–็•ฐ้ชจ็—‡ - + ๆฟƒๅŒ–็•ฐ้ชจ็—‡ - - 4 - 2201024 - + + 4 + NANDO:2201024 + osteopoikilosis + ใ“ใคใฏใ‚“ใ‚‚ใ‚“ใ—ใ‚‡ใ† ้ชจๆ–‘็ด‹็—‡ - + ้ชจๆ–‘็ด‹็—‡ - - 4 - 2201025 - + + 4 + NANDO:2201025 + Osteopathia Striata + ใ“ใคใ›ใ‚“ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ† ้ชจ็ทš็Šถ็—‡ + - + + ้ชจ็ทš็Šถ็—‡ - + + 15 + ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎใ€ใใ‚‚็ŠถๆŒ‡ใ€่€ณไป‹ใฎๅค‰ๅฝขใ€ๅดๅผฏ็—‡ใ€็ดฐใ้•ทใ„ๅ››่‚ขใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ไฝ“ๅž‹็š„ใซใฏใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹็‚นใŒๅคšใ„ใŒใ€ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใงใฏ้–ข็ฏ€ๅผ›็ทฉๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ๆœฌ็—‡ใงใฏ้–ข็ฏ€ใฏๆ‹˜็ธฎใ™ใ‚‹ใ€‚ ็‰นใซๆ‰‹ๆŒ‡ใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใงใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹็œผ็—‡็Šถใ‚„ๅคง่ก€็ฎก็ณปใฎๅˆไฝต็—‡ใฏไผดใ‚ใชใ„ใ€‚ ใ—ใฐใ—ใฐไนใ—ใ„็šฎไธ‹่„‚่‚ช็ต„็น”ใ€่ˆŸ็Šถ้ ญใ‚’ไผดใ†ใ€‚้ ไฝๅž‹ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎ็—‡๏ผˆdistal arthrogryposis๏ผ‰9ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ + NANDO:2201026 + + Beals syndrome + ใณใƒผใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒ“ใƒผใƒซใ‚บ็—‡ๅ€™็พค + + + + + Beals็—‡ๅ€™็พค + Congenital contractural arachnodactyly + ้ ไฝๅž‹ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎ็—‡9ๅž‹ + + ใƒ“ใƒผใƒซใ‚บ็—‡ๅ€™็พค + + + 3 + Bean็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ…จ่บซใฎ็šฎ่†šใŠใ‚ˆใณๆถˆๅŒ–็ฎกใ‚’ไธญๅฟƒใจใ—ใŸๅ†…่‡“ใซ็”Ÿใ˜ใ‚‹้™่„ˆๅฅ‡ๅฝขใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใŒใ‚ดใƒ ไนณ้ฆ–ใซไผผใฆใŠใ‚Šใ€้’่‰ฒใŒใ‹ใฃใฆใ„ใ‚‹ใŸใ‚ใ€1958ๅนดใซWilliam Beanใซใ‚ˆใ‚Šblue rubber bleb nevus syndrome (้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ…จ่บซใฎ็šฎ่†šไปฅๅค–ใซใ€ๆถˆๅŒ–็ฎกใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๅคš่‡“ๅ™จใซ็—…ๅค‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซ้‡็ฏคใชๅ‡บ่ก€ๆ€งๅˆไฝต็—‡ใ‚’่ตทใ“ใ™1)ใ€‚ใพใŸใ€ๅฅ‡ๅฝข่ก€็ฎกๅ†…ใซใŠใ„ใฆๅฑ€ๆ‰€็š„ใชๅ‡ๅ›บๅ› ๅญๆถˆ่ฒปใŒ็”Ÿใ˜ใ€ๅ…จ่บซๆ€ง่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคšใใฏๆ•ฃ็™บไพ‹ใ ใŒ้บไผๆ€งใฎๅ ดๅˆใซใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใ€‚ + NANDO:2201027 + + Blue Rubber Bleb Nevus Syndrome + ใ‚ใŠใ„ใ‚ใ”ใ‚€ใพใ‚Šใ‚ˆใ†ใผใฏใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค + + + + + ้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค + + + 4 + ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€้ ญ้ š้ƒจใ€ๅ››่‚ขใ€ไฝ“ๅนนใชใฉใฎๅ…จ้ ˜ๅŸŸใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ๅ›ฐ้›ฃใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ + NANDO:2201028 + + Gigantic venous malformation + ใใ‚‡ใ ใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„ + ๅทจๅคง้™่„ˆๅฅ‡ๅฝข + + + + ๅทจๅคง้™่„ˆๅฅ‡ๅฝข + + + 5 + ้™่„ˆๅฅ‡ๅฝขใฏใ€่ƒŽ็”ŸๆœŸใฎ่„ˆ็ฎกๅฝขๆˆ้Ž็จ‹ใฎ็•ฐๅธธใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ€€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก(ใ‚ทใƒฃใƒณใƒˆ)ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVAๅˆ†้กžใงใฏใ€้ซ˜ๆต้€Ÿๅž‹ใฎ่„ˆ็ฎกๅฅ‡ๅฝขใซไฝ็ฝฎไป˜ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝขใซใŠใ„ใฆๆตๅ…ฅๅ‹•่„ˆใจๆตๅ‡บ้™่„ˆใฎ็•ฐๅธธๅปๅˆ้ƒจใŒ่ค‡้›‘ใซ็ถฒ็Šถใซ็ตกใ‚€ๆง˜ๅญใฏใ€ใ—ใฐใ—ใฐใƒŠใ‚คใƒ€ใ‚น(nidus, ใ€Œๅทฃใ€ใฎๆ„)ใจ่กจ็พใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไนณๅนผๅ…ๆœŸใซใฏใปใผ็„ก็—‡ๅ€™ใงใ€ๅญฆ็ซฅๆœŸไปฅ้™ใซๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้ ญ้ ธ้ƒจใ€ๅ››่‚ขใ€ไฝ“ๅนน้ƒจใชใฉๅ…จ่บซใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็—…ๅค‰ใฎๅฑ€ๅœจใฏใ€ไธ€ใƒถๆ‰€ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ€ๅบƒ็ฏ„ๅ›ฒใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใ€่ค‡ๆ•ฐใฎ้ƒจไฝใซๅคš็™บใ™ใ‚‹ใ‚‚ใฎใชใฉๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใซใŠใ„ใฆๅทจๅคงใจใ™ใ‚‹็›ฎๅฎ‰ใฏใ€ๆœฌไบบใฎๆ‰‹ๆŽŒๅคงไปฅไธŠใฎๅบƒใŒใ‚Šใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๆˆ้•ทใจใจใ‚‚ใซๅข—ๅคงใ€ๅข—ๆ‚ชใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚Šใ€็—…ๅค‰ใฎ้€ฒ่กŒใซใคใ‚Œใฆใ€็–ผ็—›ใ€ๆฝฐ็˜ใ€ๆ„ŸๆŸ“ใ€ๆฉŸ่ƒฝ้šœๅฎณใชใฉ็—‡็Šถใ ใ‘ใงใชใใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ใ‚ทใƒฃใƒณใƒˆ้‡ๅข—ๅŠ ใซใ‚ˆใ‚‹ๅฟƒไธๅ…จใชใฉ็”Ÿๅ‘ฝใฎๅฑๆฉŸใ‚’ๅŠใผใ—ๅพ—ใ‚‹ใ€‚็ฉๆฅต็š„ๆฒป็™‚ใฏใ€ๅค–็ง‘ๆ‰‹่ก“๏ผˆๅˆ‡้™คใ€ๅ†ๅปบใ€ๅˆ‡ๆ–ญ๏ผ‰ใ‚„่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆ่ก€็ฎกๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใชใฉใŒใ‚ใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใ—ใฐใ—ใฐๆ นๆฒปๅ›ฐ้›ฃใงใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ๅŒปๅญฆ็š„็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ + NANDO:2201029 + + Huge arteriovenous malformation + ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„ + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข + + + Gigantic arteriovenous malformation + + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข + + + 6 + ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†๏ผˆๅ‹•่„ˆใƒป้™่„ˆใƒปๆฏ›็ดฐ่ก€็ฎกใƒปใƒชใƒณใƒ‘็ฎก๏ผ‰ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—ใ€ๅผทใ„็–ผ็—›ใ‚„ๆฝฐ็˜ใฏ้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚ๅ‡ๅ›บ็ทšๆบถ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ€€็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใ€ๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚ + NANDO:2201030 + + Klippel-Trenaunay-Weber syndrome + ใใ‚Šใฃใบใ‚‹ใƒปใจใ‚Œใฎใญใƒผใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค + + + + + Klippel-Trenanay-Weber็—‡ๅ€™็พค + Klippelโ€“Trรฉnaunay syndrome + + ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค + + + 7 + ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ๏ผˆprimary lymphedema๏ผ‰ใฏใ€็™Œๆ‰‹่ก“ใซใŠใ‘ใ‚‹ใƒชใƒณใƒ‘็ฏ€้š”ๆธ…็ญ‰ใฎไฝ•ใ‚‰ใ‹ใฎ่ช˜ๅ› ๅพŒใซ็™บ็—‡ใ™ใ‚‹ไบŒๆฌกๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใจๅŒบๅˆฅใ•ใ‚Œใ€ใƒชใƒณใƒ‘็ฎกใฎๅ…ˆๅคฉ็š„ไฝŽๅฝขๆˆใƒป็„กๅฝขๆˆใ‚„ๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ๅ››่‚ขใ€็‰นใซไธ‹่‚ขใ‚’ไธญๅฟƒใซใƒชใƒณใƒ‘ใ†ใฃๆปž๏ผˆๆตฎ่…ซ๏ผ‰ใ‚’็™บ็—‡ใ—ๆ…ขๆ€ง็š„ใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็—‡็Šถใƒป็ตŒ้Žใฏๅคšๆง˜ใงใ‚ใ‚‹ใŒใ€ๆตฎ่…ซใซใ‚ˆใ‚Š่‚ฅๅคงใ—ใŸๅ››่‚ขใฎๆ•ดๅฎนๆ€งใฎๅ•้กŒใ‚„ๆ„ŸๆŸ“ใ‚„ใฉใฎๆ‚ฃ้ƒจใซ็ถš็™บใ™ใ‚‹ๅ•้กŒใซใ‚ˆใฃใฆ็”Ÿๆถฏใซใ‚ใŸใ‚Š่บซไฝ“็š„ใƒป็ฒพ็ฅž็š„่‹ฆ็—›ใจใชใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใฏใ€็™บ็—‡ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…ˆๅคฉๆ€ง๏ผˆ1ๆญณๆœชๆบ€๏ผ‰ใ€ๆ—ฉ็™บๆ€ง๏ผˆ1๏ฝž35ๆญณ๏ผ‰ใ€้…็™บๆ€ง๏ผˆ36ๆญณไปฅไธŠ๏ผ‰ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆKinmonthใฎๅˆ†้กž๏ผ‰ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใฏไป–ใฎ็‰นๅพด็š„ใช็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใฎไธ€็—‡็Šถใงใ‚ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใฎ้–ข้€ฃ้บไผๅญใŒๆฌกใ€…ใจ็™บ่ฆ‹ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใ‚’ๅซใ‚ใฆ็—…ๆ…‹็™บ็”ŸๆฉŸๅบใฎ็†่งฃใŒ้€ฒใ‚€ใซใคใ‚Œใฆใ€ๅˆ†้กžใฏไปŠๅพŒใ‚‚ไฟฎๆญฃใ‚’็นฐใ‚Š่ฟ”ใ™ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚ + NANDO:2201031 + + Primary lymphedema + ใ’ใ‚“ใฑใคใ›ใ„ใ‚Šใ‚“ใฑใตใ—ใ‚… + ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ + + + + ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ + + + 8 + ใƒชใƒณใƒ‘็ฎก่…ซใฏไธปใซๅฐๅ…๏ผˆๅคšใใฏๅ…ˆๅคฉๆ€ง๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธปไฝ“ใจใ—ใŸ่…ซ็˜คๆ€ง็—…ๅค‰ใงใ‚ใ‚Šใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅคšใใฎ็—‡ไพ‹ใงใฏ็กฌๅŒ–็™‚ๆณ•ใ‚„ๅค–็ง‘็š„ๅˆ‡้™ค็ญ‰ใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้‡็—‡ไพ‹ใฏใ—ใฐใ—ใฐๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆฐ—้“้–‰ๅกžใชใฉใฎๆฉŸ่ƒฝ็š„ใชๅ•้กŒใ‚„ๆ•ดๅฎน็š„ใชๅ•้กŒใ‚’ๆŠฑใˆใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVA๏ผˆInternational Society of Studying Vascular Anomaly, ๅ›ฝ้š›่ก€็ฎกๅฅ‡ๅฝข็ ”็ฉถๅญฆไผš๏ผ‰ๅˆ†้กžใซใŠใ„ใฆใฏ่„ˆ็ฎก็—…ๅค‰ใฎไธ€ใคใจใ—ใฆใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใซๅซใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅ—ใ‘ใฆๆœ€่ฟ‘ใงใฏใƒชใƒณใƒ‘็ฎก่…ซใ‚’ใ€Œใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ใจๅ‘ผใถใ“ใจใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚่‹ฑ่ชžๅใฏlymphangiomaใ€cystic or common lymphatic malformationใ€cystic hygromaใชใฉใ€‚ใƒชใƒณใƒ‘็ฎก่…ซใ‚’็—…ๅค‰ใฎไธ€้ƒจใซๅซใ‚€ใ€ใ‚ˆใ‚Š่ค‡้›‘ใช็—‡ๅ€™็พคใŒใ„ใใคใ‹็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผˆKlippel-Trenaunay ็—‡ๅ€™็พคใชใฉ๏ผ‰ใ€่จบๆ–ญใƒปๅฎš็พฉใซใคใ„ใฆใฏใพใ ไธ็ขบๅฎšใชใจใ“ใ‚ใŒใ‚ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏใƒชใƒณใƒ‘็ฎก่…ซใจๅŒๆง˜ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใซใ‚ˆใ‚‹ๆตธๆฝคๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ใŒใ€ๆบถ้ชจๆ€งๅค‰ๅŒ–ใ‚„ๅคš่‡“ๅ™จใงใฎ็™บ็”Ÿใ€ไนณ็ณœ่ƒธๆฐดใƒป่…นๆฐดใชใฉใฎใƒชใƒณใƒ‘ๆผใชใฉๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคšใใŒ้›ฃๆฒปๆ€งใงใ€็พๆ™‚็‚นใงใฏ็ขบๅฎŸใซๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ไผผใŸใ‚ˆใ†ใช็—‡็Šถใฎใ‚ดใƒผใƒใƒ ็—…ใฏ้ชจๆบถ่งฃ็—‡็ŠถใŒใ‚ˆใ‚Š้ก•่‘—ใงใ‚ใ‚‹ใŒใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใฎ้‘‘ๅˆฅใฏใฏใฃใใ‚Šใ—ใชใ„ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏ่‹ฑ่ชžๅใงใฏlymphangiomatosisใ€generalized lymphatic anomalyใชใฉใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ€€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใƒชใƒณใƒ‘็ฎก่…ซใฏ้‘‘ๅˆฅใŒ้›ฃใ—ใใ€็พๆ™‚็‚นใงใฏๆ˜Ž็ขบใซๅˆ†้กžใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซๆง˜็—…ๅค‰ใŒ้›ขใ‚ŒใŸไฝ็ฝฎใซ่ค‡ๆ•ฐใ‚ใฃใŸใ‚Šใ€็—…ๅค‰ใŒๆ‹กๅคงใ€ๆตธๆฝคๅ‚พๅ‘ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2201032 + + lymphangioma + ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚… + ใƒชใƒณใƒ‘็ฎก่…ซ + + + + + ใƒชใƒณใƒ‘็ฎก่…ซ + + + 9 + ใƒชใƒณใƒ‘็ฎก่…ซใฏไธปใซๅฐๅ…๏ผˆๅคšใใฏๅ…ˆๅคฉๆ€ง๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธปไฝ“ใจใ—ใŸ่…ซ็˜คๆ€ง็—…ๅค‰ใงใ‚ใ‚Šใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅคšใใฎ็—‡ไพ‹ใงใฏ็กฌๅŒ–็™‚ๆณ•ใ‚„ๅค–็ง‘็š„ๅˆ‡้™ค็ญ‰ใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้‡็—‡ไพ‹ใฏใ—ใฐใ—ใฐๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆฐ—้“้–‰ๅกžใชใฉใฎๆฉŸ่ƒฝ็š„ใชๅ•้กŒใ‚„ๆ•ดๅฎน็š„ใชๅ•้กŒใ‚’ๆŠฑใˆใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVA๏ผˆInternational Society of Studying Vascular Anomaly, ๅ›ฝ้š›่ก€็ฎกๅฅ‡ๅฝข็ ”็ฉถๅญฆไผš๏ผ‰ๅˆ†้กžใซใŠใ„ใฆใฏ่„ˆ็ฎก็—…ๅค‰ใฎไธ€ใคใจใ—ใฆใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใซๅซใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅ—ใ‘ใฆๆœ€่ฟ‘ใงใฏใƒชใƒณใƒ‘็ฎก่…ซใ‚’ใ€Œใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ใจๅ‘ผใถใ“ใจใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚่‹ฑ่ชžๅใฏlymphangiomaใ€cystic or common lymphatic malformationใ€cystic hygromaใชใฉใ€‚ใƒชใƒณใƒ‘็ฎก่…ซใ‚’็—…ๅค‰ใฎไธ€้ƒจใซๅซใ‚€ใ€ใ‚ˆใ‚Š่ค‡้›‘ใช็—‡ๅ€™็พคใŒใ„ใใคใ‹็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผˆKlippel-Trenaunay ็—‡ๅ€™็พคใชใฉ๏ผ‰ใ€่จบๆ–ญใƒปๅฎš็พฉใซใคใ„ใฆใฏใพใ ไธ็ขบๅฎšใชใจใ“ใ‚ใŒใ‚ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏใƒชใƒณใƒ‘็ฎก่…ซใจๅŒๆง˜ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใซใ‚ˆใ‚‹ๆตธๆฝคๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ใŒใ€ๆบถ้ชจๆ€งๅค‰ๅŒ–ใ‚„ๅคš่‡“ๅ™จใงใฎ็™บ็”Ÿใ€ไนณ็ณœ่ƒธๆฐดใƒป่…นๆฐดใชใฉใฎใƒชใƒณใƒ‘ๆผใชใฉๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคšใใŒ้›ฃๆฒปๆ€งใงใ€็พๆ™‚็‚นใงใฏ็ขบๅฎŸใซๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ไผผใŸใ‚ˆใ†ใช็—‡็Šถใฎใ‚ดใƒผใƒใƒ ็—…ใฏ้ชจๆบถ่งฃ็—‡็ŠถใŒใ‚ˆใ‚Š้ก•่‘—ใงใ‚ใ‚‹ใŒใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใฎ้‘‘ๅˆฅใฏใฏใฃใใ‚Šใ—ใชใ„ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏ่‹ฑ่ชžๅใงใฏlymphangiomatosisใ€generalized lymphatic anomalyใชใฉใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ€€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใƒชใƒณใƒ‘็ฎก่…ซใฏ้‘‘ๅˆฅใŒ้›ฃใ—ใใ€็พๆ™‚็‚นใงใฏๆ˜Ž็ขบใซๅˆ†้กžใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซๆง˜็—…ๅค‰ใŒ้›ขใ‚ŒใŸไฝ็ฝฎใซ่ค‡ๆ•ฐใ‚ใฃใŸใ‚Šใ€็—…ๅค‰ใŒๆ‹กๅคงใ€ๆตธๆฝคๅ‚พๅ‘ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใ—ใฆใ„ใ‚‹ใ€‚ + NANDO:2201033 + + lymphangiomatosis + ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ† + ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ + + + + + + ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ + + + 1 + ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผˆHHT, ใ‚ชใ‚นใƒฉใƒผ็—…๏ผ‰ใฏใ€็šฎ่†šใƒป็ฒ˜่†œใƒปๆถˆๅŒ–็ฎกใฎๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผต็—…ๅค‰ใ‹ใ‚‰ใฎๅๅพฉใ™ใ‚‹ๅ‡บ่ก€ใ€ๅคš่‡“ๅ™จ๏ผˆ่„ณใƒป่„Š้ซ„ใƒป่‚บใƒป่‚่‡“๏ผ‰ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ + NANDO:2201034 + + Hereditary hemorrhagic telangiectasia + ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใพใฃใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ† + ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡ + + + HHT + Hereditary haemorrhagic telangiectasia + Osler-Weber-Rendu disease + ใ‚ชใ‚นใƒฉใƒผ็—… + + ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡ + + + 2 + 1940ๅนดใซๆ”พๅฐ„็ทš็ง‘ๅŒปใฎKasabachใจๅฐๅ…็ง‘ๅŒปใฎMerrittใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็—‡ๅ€™็พคใงใ€ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็พ่ฑกใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๅฝผใ‚‰ใฏๆฏ›็ดฐ่ก€็ฎกๆ€ง่ก€็ฎก่…ซใจใ„ใ†็—…ๅใงๅ ฑๅ‘Šใ—ใŸใŒใ€ๅฎŸ้š›ใฏๆฏ›็ดฐ่ก€็ฎกๆ€ง่ก€็ฎก่…ซใงใฏใชใใ€ใ‚ซใƒใ‚ธๅž‹่ก€็ฎกๅ†…็šฎ่…ซใ€€kaposiform hemangioendothelioma๏ผˆKHE๏ผ‰ใพใŸใฏๆˆฟ็Šถ่ก€็ฎก่…ซtufted angioma (TA)ใงใ‚ใฃใŸใ€‚ใ“ใ‚Œใ‚‰ใฏๅŒใ˜็—…ๅค‰ใจใ™ใ‚‹ๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€ๅฐๅ…ๆœŸใ€็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใฎใ‚ซใƒใ‚ธๅž‹่ก€็ฎกๅ†…็šฎ่…ซใพใŸใฏๆˆฟ็Šถ่ก€็ฎก่…ซใซๅˆไฝตใ—ใฆ่ตทใ“ใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่ฒง่ก€ใ€ๅ‡ๅ›บ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€็‰นใซ่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒ็‰นๅพดใงใ‚ใ‚Šใ€ๅ‡บ่ก€ใ‚„ๅคš่‡“ๅ™จไธๅ…จใชใฉ่‡ดๅ‘ฝ็š„ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ + NANDO:2201035 + + Kasabach-Merritt syndrome + ใ‹ใ•ใฐใฃใฏใƒปใ‚ใ‚Šใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค + + + + Kasabach-Merritt็—‡ๅ€™็พค + + ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค + + + 40 + NANDO:2201036 + + unilateral retinoblastoma (right) + ใธใ‚“ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…๏ผˆใฟใŽ๏ผ‰ + ็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅณ๏ผ‰ + + + ็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅณ๏ผ‰ + + + 40 + NANDO:2201037 + + unilateral retinoblastoma (left) + ใธใ‚“ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…๏ผˆใฒใ ใ‚Š๏ผ‰ + ็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅทฆ๏ผ‰ + + + ็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅทฆ๏ผ‰ + + + 40 + NANDO:2201038 + + bilateral retinoblastoma + ใ‚Šใ‚‡ใ†ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚… + ไธกๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ + + + + ไธกๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ + + + 6 + ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ + NANDO:2201039 + + bronchial stenosis + ใใ‹ใ‚“ใ—ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ† + ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ + + + ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ + + + 6 + ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ + NANDO:2201040 + + bronchomalacia + ใใ‹ใ‚“ใ—ใชใ‚“ใ‹ใ—ใ‚‡ใ† + ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ + + + + + ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ + + + 88 + NANDO:2201041 + + hypertrophic nonobstructive cardiomyopathy + ใฒใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† + ้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + + + + ้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + + + 88 + NANDO:2201042 + + hypertrophic obstructive cardiomyopathy + ใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† + ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + + + + + ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + + + 88 + NANDO:2201043 + + dilated phase of hypertrophic cardiomyopathy + ใ‹ใใกใ‚‡ใ†ใใ†ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ† + ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + + + + + ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ + + + 5 + NANDO:2201044 + + Coronary aneurysms complicated with Kawasaki disease (typical Kawasaki disease) + ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†๏ผˆใฆใ„ใ‘ใ„ใ‚Œใ„ใ‹ใ‚ใ•ใใณใ‚‡ใ†๏ผ‰ + ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆๅฎšๅž‹ไพ‹ๅทๅดŽ็—…๏ผ‰ + + + ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆๅฎšๅž‹ไพ‹ๅทๅดŽ็—…๏ผ‰ + + + 5 + NANDO:2201045 + + Coronary aneurysms complicated with Kawasaki disease (abortive Kawasaki disease) + ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†๏ผˆใตใœใ‚“ใŒใŸใ‹ใ‚ใ•ใใณใ‚‡ใ†๏ผ‰ + ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆไธๅ…จๅž‹ๅทๅดŽ็—…๏ผ‰ + + + ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆไธๅ…จๅž‹ๅทๅดŽ็—…๏ผ‰ + + + 83 + NANDO:2201046 + + idiopathic pulmonary arterial hypertension + ใจใใฏใคใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ† + ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ + + + IPAH + + ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ + + + 83 + NANDO:2201047 + + familial pulmonary arterial hypertension + ใ‹ใžใใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ† + ๅฎถๆ—ๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ + + + hereditary pulmonary arterial hypertension + + ๅฎถๆ—ๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ + + + 83 + NANDO:2201048 + + secondary pulmonary arterial hypertension + ใซใ˜ใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ† + ไบŒๆฌกๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ + + + + ไบŒๆฌกๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ + + + 75 + NANDO:2201049 + + idiopathic central diabetes insipidus + ใจใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† + ็‰น็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡ + + + ็‰น็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡ + + + 75 + NANDO:2201050 + + familial central diabetes insipidus + ใ‹ใžใใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† + ๅฎถๆ—ๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡ + + + + + ๅฎถๆ—ๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡ + + + 75 + NANDO:2201051 + + secondary central diabetes insipidus + ใžใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ† + ็ถš็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡ + + + ็ถš็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡ + + + 65 + NANDO:2201052 + + MEN2A + Multiple endocrine neoplasia type 2A + ใˆใ‚€ใ„ใƒผใˆใฌ2ใˆใƒผ + + + + MEN 2A + MEN type 2A + ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2Aๅž‹ + + MEN2A + + + 65 + NANDO:2201053 + + MEN2B + Multiple endocrine neoplasia type 2B + ใˆใ‚€ใ„ใƒผใˆใฌ2ใณใƒผ + + + + MEN 2B + MEN type 2B + ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2Bๅž‹ + + MEN2B + + + 65 + NANDO:2201054 + + medullary thyroid carcinoma + ใ‹ใžใใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใšใ„ใ‚ˆใ†ใŒใ‚“ + ๅฎถๆ—ๆ€ง็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œ + + + FMTC + FMTC + + ๅฎถๆ—ๆ€ง็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œ + + + 8 + NANDO:2201055 + + Systemic juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใœใ‚“ใ—ใ‚“ใŒใŸ๏ผ‰ + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅ…จ่บซๅž‹๏ผ‰ + + + + sJIA + ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž + + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅ…จ่บซๅž‹๏ผ‰ + + + 8 + NANDO:2201056 + + oligoarticular juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ—ใ‚‡ใ†ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰ + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅฐ‘้–ข็ฏ€็‚Ž๏ผ‰ + + + oligoarthritis + ๅฐ‘้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž + + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅฐ‘้–ข็ฏ€็‚Ž๏ผ‰ + + + 8 + NANDO:2201057 + + Rheumatoid factor-negative juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‚Šใ†ใพใจใ„ใฉใ„ใ‚“ใ—ใ„ใ‚“ใ›ใ„ใŸใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰ + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฐๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰ + + + + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฐๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰ + + + 8 + NANDO:2201058 + + Rheumatoid factor-positive juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‚Šใ†ใพใจใ„ใฉใ„ใ‚“ใ—ใ‚ˆใ†ใ›ใ„ใŸใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰ + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฝๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰ + + + + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฝๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰ + + + 8 + NANDO:2201059 + + Psoriatic juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‹ใ‚“ใ›ใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰ + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผ‰ + + + ้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ + + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผ‰ + + + 8 + NANDO:2201060 + + Enthesitis-related juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใตใกใ‚ƒใใถใˆใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰ + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไป˜็€้ƒจ็‚Ž้–ข้€ฃ้–ข็ฏ€็‚Ž๏ผ‰ + + + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไป˜็€้ƒจ็‚Ž้–ข้€ฃ้–ข็ฏ€็‚Ž๏ผ‰ + + + 8 + NANDO:2201061 + + unclassifiable Juvenile idiopathic arthritis + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใถใ‚“ใ‚‹ใ„ใตใฎใ†ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰ + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅˆ†้กžไธ่ƒฝ้–ข็ฏ€็‚Ž๏ผ‰ + + + + ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅˆ†้กžไธ่ƒฝ้–ข็ฏ€็‚Ž๏ผ‰ + + + 4 + NANDO:2201062 + + Takayasu arteritis with occlusion of aortic arch + ใใ‚…ใ†ใถใ‚“ใใธใ„ใใใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“ + ๅผ“ๅˆ†ๅฒ้–‰ๅกžๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + + + ๅผ“ๅˆ†ๅฒ้–‰ๅกžๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + 4 + NANDO:2201063 + + atypical coarctation type Takayasu arteritis + ใ„ใ‘ใ„ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“ + ็•ฐๅž‹ๅคงๅ‹•่„ˆ็ธฎ็ช„ๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + + + ็•ฐๅž‹ๅคงๅ‹•่„ˆ็ธฎ็ช„ๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + 4 + NANDO:2201064 + + mixed-type Takayasu arteritis + ใ“ใ‚“ใ”ใ†ใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“ + ๆททๅˆๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + + + ๆททๅˆๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + 4 + NANDO:2201065 + + dilated type Takayasu arteritis + ใ‹ใใกใ‚‡ใ†ใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“ + ๆ‹กๅผตๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + + ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅ‹•่„ˆ็˜คๅž‹๏ผ‰ + + ๆ‹กๅผตๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž + + + 16 + NANDO:2201066 + + Chronic infantileย neurological cutaneous articular syndrome + ใพใ‚“ใ›ใ„ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใฒใตใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค + + + + + CINCA็—‡ๅ€™็พค + + ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค + + + 16 + NANDO:2201067 + + Muckle-Wells syndrome + ใพใฃใใ‚‹ใƒปใ†ใ‡ใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค + + + + + Muckle-Wells็—‡ๅ€™็พค + + ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค + + + 16 + NANDO:2201068 + + familial cold autoinflammatory syndrome + ใ‹ใžใใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค + + + + FCAS + ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น + + ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค + + + 4 + NANDO:2201069 + + MODY1 + Maturity-onset diabetes of the young type 1 + ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„1 + + + + HNF4A-MODY + MODY1 + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…1ๅž‹ + + MODY1 + + + 4 + NANDO:2201070 + + MODY2 + Maturity-onset diabetes of the young type 2 + ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„2 + + + + GCK-MODY + MODY2 + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…2ๅž‹ + + MODY2 + + + 4 + NANDO:2201071 + + MODY3 + Maturity-onset diabetes of the young type 3 + ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„3 + + + + HNF1A-MODY + MODY3 + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…3ๅž‹ + + MODY3 + + + 4 + NANDO:2201072 + + MODY4 + Maturity-onset diabetes of the young type 4 + ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„4 + + + + MODY4 + PDX1-MODY + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…4ๅž‹ + + MODY4 + + + 4 + NANDO:2201073 + + MODY5 + Maturity-onset diabetes of the young type 5 + ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„5 + + + + HNF1B-MODY + MODY5 + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…5ๅž‹ + + MODY5 + + + 4 + NANDO:2201074 + + other maturity-onset diabetes of the young + ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰ + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆใใฎไป–๏ผ‰ + + + ่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆใใฎไป–๏ผ‰ + + + 17 + NANDO:2201075 + + Phenylalanine hydroxylase deficiency + ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + + + + + PAH deficiency + PAHๆฌ ๆ็—‡ + + ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ + + + 17 + NANDO:2201076 + + BH4ๆฌ ๆ็—‡ + Tetrahydrobiopterin deficiency + ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + + + + ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ + + BH4ๆฌ ๆ็—‡ + + + 17 + NANDO:2201077 + + BH4-responsive hyperphenylalaninemia + BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ + ใณใƒผใˆใ„ใก4ใฏใ‚“ใฎใ†ใ›ใ„ใ“ใ†ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ‘ใฃใ—ใ‚‡ใ† + + + BH4-responsive hyperphenylalaninaemia + Tetrahydrobiopterin-responsive hyperphenylalaninemia + + BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ + + + 20 + NANDO:2201078 + + classic form maple syrup urine disease + ใ“ใฆใ‚“ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ† + ๅคๅ…ธๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + classic MSUD + + ๅคๅ…ธๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + 20 + NANDO:2201079 + + intermediate maple syrup urine disease + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ† + ไธญ้–“ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + + ไธญ้–“ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + 20 + NANDO:2201080 + + intermittent maple syrup urine disease + ใ‹ใ‚“ใ‘ใคใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ† + ้–“ๆฌ ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + + ้–“ๆฌ ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + 20 + NANDO:2201081 + + thiamine-responsive maple syrup urine disease + ใกใ‚ใฟใ‚“ใฏใ‚“ใฎใ†ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ† + ใƒใ‚ขใƒŸใƒณๅๅฟœๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + + ใƒใ‚ขใƒŸใƒณๅๅฟœๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡ + + + 19 + NANDO:2201082 + + chronic progressive homocystinuria + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ + + + + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ + + + 19 + NANDO:2201083 + + vitamin B6-responsive homocystinuria + ใณใŸใฟใ‚“ใณใƒผ6ใฏใ‚“ใฎใ†ใŒใŸใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ใƒ“ใ‚ฟใƒŸใƒณB6ๅๅฟœๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ + + + + + ใƒ“ใ‚ฟใƒŸใƒณB6ๅๅฟœๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ + + + 3 + NANDO:2201084 + + presymptomatic N-acetylglutamate synthetase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + + NAGS deficiency + NAGSD + + ็™บ็—‡ๅ‰ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 3 + NANDO:2201085 + + neonatal-onset N-acetylglutamate synthetase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 3 + NANDO:2201086 + + late-onset N-acetylglutamate synthetase deficiency + ใกใฏใคใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + + late-onset NAGSD + + ้…็™บๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 5 + NANDO:2201087 + + presymptomatic carbamoylphosphate synthetase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 5 + NANDO:2201088 + + neonatal-onset carbamoyl phosphate synthetase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 5 + NANDO:2201089 + + late-onset carbamoylphosphate synthetase deficiency + ใกใฏใคใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + + + ้…็™บๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 4 + NANDO:2201090 + + Presymptomatic ornitine transcarbamylase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + 4 + NANDO:2201091 + + Neonatal-onset ornitine transcarbamylase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + 4 + NANDO:2201092 + + Late-onset ornitine transcarbamylase deficiency + ใกใฏใคใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + + + ้…็™บๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + 1 + NANDO:2201093 + + presymptomatic argininosuccinate synthetase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 1 + NANDO:2201094 + + neonatal-onset argininosuccinate synthetase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + neonatal-onset ASD + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 1 + NANDO:2201095 + + late-onset argininosuccinate synthetase deficiency + ใกใฏใคใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + + ้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ + + + 2 + NANDO:2201096 + + presymptomatic argininosuccinic aciduria + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + + + 2 + NANDO:2201097 + + neonatal-onset argininosuccinic aciduria + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + + + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + + + 2 + NANDO:2201098 + + late-onset argininosuccinic aciduria + ใกใฏใคใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ† + ้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + + + + late-onset ASA + + ้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ + + + 6 + NANDO:2201099 + + Presymptomatic hyperargininemia + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ + + + Presymptomatic hyperargininaemia + ็™บ็—‡ๅ‰ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ + + + 6 + NANDO:2201100 + + Neonatal-onset hyperargininemia + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ + + + + Neonatal-onset hyperargininaemia + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ + + + 6 + NANDO:2201101 + + Late-onset hyperarginemia + ใกใฏใคใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ้…็™บๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ + + + + Late-onset hyperarginaemia + + ้…็™บๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ + + + 110 + NANDO:2201102 + + Presymptomatic methylmalonic acidemia + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + + + Presymptomatic methylmalonic acidaemia + ็™บ็—‡ๅ‰ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + + + 110 + NANDO:2201103 + + Acute-onset methylmalonic acidemia + ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + + + Acute-onset methylmalonic acidaemia + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + + + 110 + NANDO:2201104 + + Methylmalonic acidemia, chronic progressive form + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + + + Methylmalonic acidaemia, chronic progressive form + + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ + + + 110 + NANDO:2201105 + + Methylmalonic acidemia cblA type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA + + + + + Methylmalonic acidaemia cblA type + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA + + + 110 + NANDO:2201106 + + Methylmalonic acidemia cblB type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใณใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB + + + + + Methylmalonic acidaemia cblB type + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB + + + 110 + NANDO:2201107 + + Methylmalonic aciduria and homocystinuria, cblC type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ—ใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblC + + + + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblC + + + 110 + NANDO:2201108 + + Methylmalonic acidemia CblD type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใงใƒใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD + + + + + Methylmalonic acidaemia CblD type + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD + + + 110 + NANDO:2201109 + + Methylcobalamin deficiency cblE type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ„ใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblE + + + + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblE + + + 110 + NANDO:2201110 + + Methylmalonic acidemia and homocystinuria cblF type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใต + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblF + + + + Methylmalonic acidaemia and homocystinuria cblF type + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblF + + + 110 + NANDO:2201111 + + Methylcobalamin deficiency cblG type + ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ˜ใƒผ + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblG + + + + + + ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblG + + + 107 + NANDO:2201112 + + Presymptomatic propionic acidemia + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + Presymptomatic propionic acidaemia + ็™บ็—‡ๅ‰ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + 107 + NANDO:2201113 + + Acute-onset propionic acidemia + ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + + Acute-onset propionic acidaemia + + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + 107 + NANDO:2201114 + + Propionic acidemia, chronic progressive form + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + Propionic acidaemia, chronic progressive form + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + 107 + NANDO:2201115 + + Propionic acidemia, intermittent late onset form + ใ•ใ„ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆœ€่ปฝ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + Propionic acidaemia, intermittent late onset form + ๆœ€่ปฝ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡ + + + 96 + NANDO:2201116 + + Presymptomatic isovaleric acidemia + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ + + + Presymptomatic isovaleric acidaemia + ็™บ็—‡ๅ‰ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ + + + 96 + NANDO:2201117 + + Acute-onset isovaleric acidemia + ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ + + + + Acute-onset isovaleric acidaemia + + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ + + + 96 + NANDO:2201118 + + Isovaleric acidemia, chronic progressive form + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ + + + + Isovaleric acidaemia, chronic progressive form + + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ + + + 103 + NANDO:2201119 + + Presymptomatic 3-hydroxy-3-methylglutaric acidemia + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸ3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡ + + + + HMG-CoA lyase deficiency + Presymptomatic 3-hydroxy-3-methylglutaric acidaemia + + ็™บ็—‡ๅ‰ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡ + + + 103 + NANDO:2201120 + + Acute-onset 3-hydroxy-3-methylglutaric acidemia + ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸ3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ† + ๆ€ฅๆ€ง็™บ็—‡ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡ + + + Acute-onset 3-hydroxy-3-methylglutaric acidaemia + ๆ€ฅๆ€ง็™บ็—‡ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡ + + + 106 + NANDO:2201121 + + presymptomatic multiple carboxylase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + 106 + NANDO:2201122 + + acute-onset multiple carboxylase deficiency + ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ€ฅๆ€ง็™บ็—‡ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + ๆ€ฅๆ€ง็™บ็—‡ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + 106 + NANDO:2201123 + + Chronic progressive multiple carboxylase deficiency + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ…ขๆ€ง้€ฒ่กŒๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + ๆ…ขๆ€ง้€ฒ่กŒๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ + + + 98 + NANDO:2201124 + + Presymptomatic glutaric acidemia type 1 + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ + ็™บ็—‡ๅ‰ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ + + + Presymptomatic glutaric acidaemia type 1 + ็™บ็—‡ๅ‰ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ + + + 98 + NANDO:2201125 + + Acute-onset glutaric acidemia type 1 + ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ + + + + Acute-onset glutaric acidaemia type 1 + + ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ + + + 98 + NANDO:2201126 + + Glutaric acidemia type 1, chronic progressive form + ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ + + + Glutaric acidaemia type 1, chronic progressive form + ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ + + + 41 + NANDO:2201127 + + Presymptomatic carnitine palmitoyltransferase I deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + 41 + NANDO:2201128 + + Neonatal-onset carnitine palmitoyltransferase I deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + 41 + NANDO:2201129 + + Infantile-onset carnitine palmitoyl transferase I deficiency + ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + 41 + NANDO:2201130 + + Late-onset carnitine palmitoyltransferase I deficiency + ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + ้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡ + + + 42 + NANDO:2201131 + + presymptomatic carnitine palmitoyltransferase II deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + 42 + NANDO:2201132 + + neonatal-onset carnitine palmitoyltransferase II deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + 42 + NANDO:2201133 + + Infantile-onset carnitine palmitoyl transferase II deficiency + ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + CPT II deficiency + + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + 42 + NANDO:2201134 + + late-onset carnitine palmitoyltransferase II deficiency + ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + + ้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡ + + + 40 + NANDO:2201135 + + presymptomatic carnitine-acylcarnitine translocase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + 40 + NANDO:2201136 + + neonatal-onset carnitine-acylcarnitine translocase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + neonatal-onset CACT deficiency + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + 40 + NANDO:2201137 + + infantile-onset carnitine-acylcarnitine translocase deficiency + ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + 40 + NANDO:2201138 + + late-onset carnitine-acylcarnitine translocase deficiency + ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + ้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡ + + + 43 + NANDO:2201139 + + presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + + presymptomatic VLCAD deficiency + + ็™บ็—‡ๅ‰ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 43 + NANDO:2201140 + + neonatal-onset very-long-chain acyl-CoA dehydrogenase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 43 + NANDO:2201141 + + infant-onset very-long-chain acyl-CoA dehydrogenase deficiency + ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 43 + NANDO:2201142 + + late-onset very-long-chain acyl-CoA dehydrogenase deficiency + ใกใฏใคใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + ้…็™บๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 48 + NANDO:2201143 + + presymptomatic medium-chain acyl-CoA dehydrogenase deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + ็™บ็—‡ๅ‰ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 48 + NANDO:2201144 + + neonatal-onset medium-chain acyl-CoA dehydrogenase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 48 + NANDO:2201145 + + infant-onset medium-chain acyl-CoA dehydrogenase deficiency + ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 48 + NANDO:2201146 + + late-onset medium-chain acyl-CoA dehydrogenase deficiency + ใกใฏใคใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + ้…็™บๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ + + + 44 + NANDO:2201147 + + presymptomatic trifunctional protein deficiency + ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ็™บ็—‡ๅ‰ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + + TFP deficiency + + ็™บ็—‡ๅ‰ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + 44 + NANDO:2201148 + + Trifunctional protein deficiency, lethal type + ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + + + + ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + 44 + NANDO:2201149 + + Trifunctional protein deficiency, intermediate type + ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + + Reyeๆง˜็—‡ๅ€™็พค + ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + 44 + NANDO:2201150 + + Trifunctional protein deficiency, myopathic type + ใกใฏใคใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + + Trifunctional protein deficiency, late adult-onset + ้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡ + + + 62 + NANDO:2201151 + + Glycogen storage disease type 0a + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใˆใƒผใŒใŸ + ็ณ–ๅŽŸ็—…0aๅž‹ + + + + GSD type 0a + + ็ณ–ๅŽŸ็—…0aๅž‹ + + + 62 + NANDO:2201152 + + Glycogen storage disease type 0b + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใณใƒผใŒใŸ + ็ณ–ๅŽŸ็—…0bๅž‹ + + + + GSD type 0b + + ็ณ–ๅŽŸ็—…0bๅž‹ + + + 64 + NANDO:2201153 + + Glycogen storage disease type 1a + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใˆใƒผใŒใŸ + ็ณ–ๅŽŸ็—…Iaๅž‹ + + + + GSD Ia + + ็ณ–ๅŽŸ็—…Iaๅž‹ + + + 64 + NANDO:2201154 + + Glycogen storage disease type 1b + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ + ็ณ–ๅŽŸ็—…Ibๅž‹ + + + + + GSD Ib + + ็ณ–ๅŽŸ็—…Ibๅž‹ + + + 65 + NANDO:2201155 + + Glycogen storage disease type 3a + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใˆใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IIIaๅž‹ + + + + GSD IIIa + ็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰ + + ็ณ–ๅŽŸ็—…IIIaๅž‹ + + + 65 + NANDO:2201156 + + Glycogen storage disease type 3b + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใณใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IIIbๅž‹ + + + + GSD IIIb + ็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆ่‚ๅž‹๏ผ‰ + + ็ณ–ๅŽŸ็—…IIIbๅž‹ + + + 65 + NANDO:2201157 + + Glycogen storage disease type 3c + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IIIdๅž‹ + + + + GSD IIId + isolated transferase deficiency + ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ + ็ณ–ๅŽŸ็—…๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰ + + ็ณ–ๅŽŸ็—…IIIdๅž‹ + + + 65 + NANDO:2201158 + + Glycogen storage disease type 3d + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IIIdๅž‹ + + + + GSD IIId + ฮฑ -1,4-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ + + ็ณ–ๅŽŸ็—…IIIdๅž‹ + + + 66 + NANDO:2201159 + + Glycogen storage disease type IV, hepatic form + ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ + ่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + + hepatic type of GSD IV + ้‡็—‡่‚็กฌๅค‰ๅž‹็ณ–ๅŽŸ็—…โ…ฃๅž‹ + + ่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + 66 + NANDO:2201160 + + Glycogen storage disease type IV, non-progressive hepatic form + ใฒใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ + ้ž้€ฒ่กŒๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + non-progressive hepatic type of GSD IV + + ้ž้€ฒ่กŒๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + 66 + NANDO:2201161 + + Glycogen storage disease type IV, fatal neuromuscular form + ใกใ—ใ›ใ„ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ + ่‡ดๆญปๆ€ง็ฅž็ตŒใƒป็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + fatal perinatal neuromuscular type of GSD IV + + ่‡ดๆญปๆ€ง็ฅž็ตŒใƒป็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + 66 + NANDO:2201162 + + Glycogen storage disease type IV, childhood combined hepatic and myopathic form + ใ‚ˆใ†ใ˜ใใ‚“ใƒปใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ + ๅนผๅ…็ญ‹ใƒป่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + + ๅนผๅ…็ญ‹ใƒป่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + 66 + NANDO:2201163 + + Glycogen storage disease type IV, adult form + ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ + ๆˆไบบๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + + ใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—… + + ๆˆไบบๅž‹็ณ–ๅŽŸ็—…IVๅž‹ + + + 70 + NANDO:2201164 + + Glycogen storage disease type IXa + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใˆใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IXaๅž‹ + + + + Glycogen storage disease type IX a + X-linked liver glycogenosis + XLG + X้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—… + + ็ณ–ๅŽŸ็—…IXaๅž‹ + + + 70 + NANDO:2201165 + + Glycogen storage disease type IXb + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใณใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IXbๅž‹ + + + + GSD IXb + Glycogen storage disease type IX b + PHKB-Related Phosphorylase Kinase Deficiency + ่‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…โ…จๅž‹ + + ็ณ–ๅŽŸ็—…IXbๅž‹ + + + 70 + NANDO:2201166 + + Glycogen storage disease type IXc + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใ—ใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IXcๅž‹ + + + + GSD IXc + Glycogen storage disease type IX c + PHKG2-Related Phosphorylase Kinase Deficiency + + ็ณ–ๅŽŸ็—…IXcๅž‹ + + + 70 + NANDO:2201167 + + Glycogen storage disease type IXd + ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใงใƒใƒผใŒใŸ + ็ณ–ๅŽŸ็—…IXdๅž‹ + + + + GSD IXd + PHKA1-Related Phosphorylase Kinase Deficiency + ็ญ‹ๅž‹็ณ–ๅŽŸ็—…โ…จๅž‹ + + ็ณ–ๅŽŸ็—…IXdๅž‹ + + + 130 + NANDO:2201168 + + Hurler Disease + Hurler็—… + ใฏใƒผใ‚‰ใƒผใณใ‚‡ใ† + + + + Hurler's disease + + + Hurler็—… + + + 130 + NANDO:2201169 + + Scheie disease + Scheie็—… + ใ—ใ‚ƒใ„ใˆใณใ‚‡ใ† + + + + + Scheie็—… + + + 130 + NANDO:2201170 + + Hurler-Scheie disease + Hurler-Scheie็—… + ใฏใƒผใ‚‰ใƒผใ—ใ‚ƒใ„ใˆใณใ‚‡ใ† + + + + + Hurler-Scheie็—… + + + 131 + NANDO:2201171 + + Mucopolysaccharidosis type II, attenuated form + ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ + ่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + + + MPS IIB + + ่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + + + 131 + NANDO:2201172 + + Mucopolysaccharidosis type II, intermediate form + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ + ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + + + + ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + + + 131 + NANDO:2201173 + + Mucopolysaccharidosis type II, severe form + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ + ้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + + + MPS IIA + + ้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ + + + 132 + NANDO:2201174 + + Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + Mucopolysaccharidosis type III A + ใˆใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ + + + + MPS IIIA + Sanfilippo syndrome type A + heparan N-sylfataseๆฌ ๆ็—‡ + + Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + 132 + NANDO:2201175 + + Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + Mucopolysaccharidosis type III B + ใณใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ + + + + MPS IIIB + Sanfilippo syndrome type B + acetylglucosaminidaseๆฌ ๆ็—‡ + + Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + 132 + NANDO:2201176 + + Cๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + Mucopolysaccharidosis type III C + ใ—ใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ + + + + MPS IIIC + Sanfilippo syndrome type C + acetylCoA:ฮฑ-glucosaminide acetyltransferaseๆฌ ๆ็—‡ + + Cๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + 132 + NANDO:2201177 + + Dๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + Mucopolysaccharidosis type III D + ใงใƒใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ + + + + MPS IIID + Sanfilippo syndrome type D + + Dๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ + + + 133 + NANDO:2201178 + + Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + Mucopolysaccharidosis type IV A + ใˆใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ + + + + MPS IVA + Morquio syndrome type A + ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Aๅž‹ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹ + + Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + + + 133 + NANDO:2201179 + + Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + Mucopolysaccharidosis type IV B + ใณใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ + + + + MPS IVB + Morquio syndrome B + ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Bๅž‹ + ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹ + + Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ + + + 134 + NANDO:2201180 + + Mucopolysaccharidosis type VI, mild form + ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ + ่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + Maroteaux-Lamy็—‡ๅ€™็พค + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—… + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค + ่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + 134 + NANDO:2201181 + + Mucopolysaccharidosis type VI, intermediate form + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ + ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + Maroteaux-Lamy็—‡ๅ€™็พค + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—… + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค + ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + 134 + NANDO:2201182 + + Mucopolysaccharidosis type VI, severe form + ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ + ้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + Maroteaux-Lamy็—‡ๅ€™็พค + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—… + ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค + ้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ + + + 135 + NANDO:2201183 + + Mucopolysaccharidosis type VII, severe neonatal form + ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + 135 + NANDO:2201184 + + mucopolysaccharidosis type VII, mild form + ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ + ่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + ่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + 135 + NANDO:2201185 + + Mucopolysaccharidosis type VII, intermediate form + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ + ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ + + + 126 + NANDO:2201186 + + fucosidosis, infantile form + ใซใ‚…ใ†ใ˜ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™ + ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + + Fucosidosis type I + ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 126 + NANDO:2201187 + + Fucosidosis, milder form + ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™ + ่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + + Fucosidosis Type II + ่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 129 + NANDO:2201188 + + alpha-mannosidosis, infantile form + ใซใ‚…ใ†ใ˜ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ + ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + + alpha-mannosidosis, type I + ไนณๅ…ๅž‹๏ผˆtype I๏ผ‰ + + + ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 129 + NANDO:2201189 + + Alpha-mannosidosis, adult form + ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ˜ใ‚“ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ + ่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + + ่‹ฅๅนดๆˆไบบๅž‹๏ผˆtype II๏ผ‰ + + ่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 129 + NANDO:2201190 + + Beta-mannosidosis + ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + ในใƒผใŸใพใ‚“ใฎใ—ใฉใƒผใ—ใ™ + + + + + ฮฒ-mannosidosis + + ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 118 + NANDO:2201191 + + Sialidosis type 1 + ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™1ใŒใŸ + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นโ… ๅž‹ + + + + + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นโ… ๅž‹ + + + 118 + NANDO:2201192 + + Sialidosis type 2 + ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™2ใŒใŸ + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ + + + + + + + ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ + + + 114 + NANDO:2201193 + + galactosialidosis, early infantile form + ใ—ใ‚“ใ›ใ„ใ˜ใŠใ‚ˆใณใใ†ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ + ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + + + + Sialidosis type II + + ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + 114 + NANDO:2201194 + + galactosialidosis, late infantile form + ใฐใ‚“ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ + ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + + ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + 114 + NANDO:2201195 + + galactosialidosis, juvenile/adult form + ใ˜ใ‚ƒใใญใ‚“ใŠใ‚ˆใณใ›ใ„ใ˜ใ‚“ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™ + ่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + + ่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น + + + 119 + NANDO:2201196 + + GM1 gangliosidosis, infantile form + ใซใ‚…ใ†ใ˜ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + + + type 1 GM1 gangliosidosis + + ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 119 + NANDO:2201197 + + GM1 gangliosidosis, juvenile form + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + ่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + + + type 2 GM1 gangliosidosis + + ่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 119 + NANDO:2201198 + + GM1 gangliosidosis, adult form + ใ›ใ„ใ˜ใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + + + type 3 GM1 gangliosidosis + + ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 120 + NANDO:2201199 + + Tay-Sachs disease + ใฆใ„ใƒปใ•ใฃใใ™ใณใ‚‡ใ† + ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—… + + + + + GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นB็•ฐๅž‹ + Tay-Sachs็—… + + ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—… + + + 120 + NANDO:2201200 + + Sandhoff disease + ใ•ใ‚“ใฉใปใตใณใ‚‡ใ† + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—… + + + + + Sandhoff็—… + + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—… + + + 120 + NANDO:2201201 + + ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + GM2 gangliosidosis AB variant + ใˆใƒผใณใƒผใŒใŸใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™ + + + + + + ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น + + + 113 + NANDO:2201202 + + Metachromatic leukodystrophy, late infantile form + ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + + ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 113 + NANDO:2201203 + + Metachromatic leukodystrophy, juvenile form + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + + + ่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 113 + NANDO:2201204 + + Metachromatic leukodystrophy, adult form + ใ›ใ„ใ˜ใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + + ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 113 + NANDO:2201205 + + Saposin B deficiency + ใ•ใฝใ—ใ‚“ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡ + + + + + ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡ + + + 123 + NANDO:2201206 + + Niemann-Pick disease type A + ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใŒใŸ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹ + + + + + Niemann-Pick็—…Aๅž‹ + + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹ + + + 123 + NANDO:2201207 + + Niemann-Pick disease type B + ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใณใƒผใŒใŸ + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹ + + + + + Niemann-Pick็—…Bๅž‹ + + ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹ + + + 123 + NANDO:2201208 + + infantile-onset Niemann-Pick disease type C + ใซใ‚…ใ†ใ˜ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ + ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + + + + ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + + + 123 + NANDO:2201209 + + adult-onset Niemann-Pick disease type C + ใ›ใ„ใ˜ใ‚“ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ + ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + + + + + ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹ + + + 116 + NANDO:2201210 + + Gaucher disease type 1 + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†1ใŒใŸ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹ + + + + + GD type 1 + Gaucher็—…1ๅž‹ + + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹ + + + 116 + NANDO:2201211 + + Gaucher disease type 2 + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†2ใŒใŸ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹ + + + + + Gaucher็—…2ๅž‹ + + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹ + + + 116 + NANDO:2201212 + + Gaucher disease type 3 + ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†3ใŒใŸ + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹ + + + + + Gaucher็—…3ๅž‹ + + ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹ + + + 125 + NANDO:2201213 + + classical Fabry disease + ใ“ใฆใ‚“ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ† + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + + + + + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + + 125 + NANDO:2201214 + + variant Fabry disease + ใ‚ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ† + ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + + + + late-onset Fabry disease + + ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—… + + + 125 + NANDO:2201215 + + heterozygous Fabry disease + ใตใใถใ‚Šใƒผใณใ‚‡ใ†ใ‘ใ‚“ใ›ใ„ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„ + ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ + + + + ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ + + + 115 + NANDO:2201216 + + Infantile Krabbe disease + ใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ† + ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + + ไนณๅ…ๅž‹Krabbe็—… + + ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + 115 + NANDO:2201217 + + Late-infantile Krabbe disease + ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ† + ๅพŒๆœŸไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + ๅพŒๆœŸไนณๅ…ๅž‹Krabbe็—… + ๅพŒๆœŸไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + 115 + NANDO:2201218 + + Juvenile Krabbe disease + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ† + ่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + + ่‹ฅๅนดๅž‹Krabbe็—… + ่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + 115 + NANDO:2201219 + + Adult Krabbe disease + ใ›ใ„ใ˜ใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ† + ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + + ๆˆไบบๅž‹Krabbe็—… + + ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—… + + + 124 + NANDO:2201220 + + Type 1 Farber disease + ใ“ใฆใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + + + classic FD + ๅคๅ…ธๅž‹Farber็—… + + ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 124 + NANDO:2201221 + + Type 2 Farber disease + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + + + Intermediate FD + ไธญ้–“ๅž‹Farber็—… + + ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 124 + NANDO:2201222 + + Type 3 Farber disease + ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + + + mild FD + ่ปฝ็—‡ๅž‹Farber็—… + + ่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 124 + NANDO:2201223 + + Type 4 Farber disease + ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + + + neonatal-visceral FD + ๆ–ฐ็”Ÿๅ…ๅž‹Farber็—… + + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 124 + NANDO:2201224 + + Type 5 Farber disease + ใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + + + Neurological Progressive variant + neurologic FD + + ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 124 + NANDO:2201225 + + Type 6 Farber disease + ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†ใŒใฃใบใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ† + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + + + Combined Farber and Sandhoff Disease variant + + ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—… + + + 124 + NANDO:2201226 + + Type 7 Farber disease + ใตใใƒผใฐใƒผใณใ‚‡ใ†๏ผˆใทใ‚ใ•ใฝใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸ๏ผ‰ + ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰ + + + + Prosaposin Deficiency + ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰ + + + 128 + NANDO:2201227 + + neonatal multiple sulfatase deficiency + ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + + + ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + + 128 + NANDO:2201228 + + Late-infantile multiple sulfatase deficiency + ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + + + + + ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ + + + 127 + NANDO:2201229 + + Classic infantile Pompe disease + ใซใ‚…ใ†ใ˜ใŒใŸใฝใ‚“ใบใณใ‚‡ใ† + ไนณๅ…ๅž‹ใƒใƒณใƒš็—… + + + + ไนณๅ…ๅž‹Pompe็—… + + ไนณๅ…ๅž‹ใƒใƒณใƒš็—… + + + 127 + NANDO:2201230 + + Childhood-onset Pompe disease + ใ—ใ‚‡ใ†ใซใŒใŸใฝใ‚“ใบใณใ‚‡ใ† + ๅฐๅ…ๅž‹ใƒใƒณใƒš็—… + + + + ๅฐๅ…ๅž‹Pompe็—… + ๅฐๅ…ๅž‹ใƒใƒณใƒš็—… + + + 127 + NANDO:2201231 + + Adult-onset Pompe disease + ใ›ใ„ใ˜ใ‚“ใŒใŸใฝใ‚“ใบใณใ‚‡ใ† + ๆˆไบบๅž‹ใƒใƒณใƒš็—… + + + + ๆˆไบบๅž‹Pompe็—… + ๆˆไบบๅž‹ใƒใƒณใƒš็—… + + + 117 + NANDO:2201232 + + Wolman disease + ใ†ใ‰ใ‚‹ใพใ‚“ใณใ‚‡ใ† + ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—… + + + + Wolman็—… + + ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—… + + + 117 + NANDO:2201233 + + Cholesterol ester storage disease + ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใˆใ™ใฆใ‚‹ใกใใ›ใใ—ใ‚‡ใ† + ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡ + + + + CESD + + ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡ + + + 121 + NANDO:2201234 + + Nephropathic cystinosis + ใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† + ่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + + Infantile nephropathic cystinosis + + + ่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + 121 + NANDO:2201235 + + Intermediate cystinosis + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† + ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + + + Juvenile cystinosis + Juvenile nephropathic cystinosis + + ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + 121 + NANDO:2201236 + + Non-nephropathic cystinosis + ใฒใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ† + ้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + + + ocular cystinosis + ็œผๅž‹ใ‚ทใ‚นใƒใƒณ็—… + + ้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡ + + + 138 + NANDO:2201237 + + Infantile free sialic acid storage disease + ใซใ‚…ใ†ใ˜ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ† + ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + + + + + ISSD + ๆœ€้‡็—‡ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + + ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + + + 138 + NANDO:2201238 + + Intermediate severe Salla disease + ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ† + ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + + + + ้‡็—‡Salla็—… + + ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + + + 138 + NANDO:2201239 + + Skeletal dysplasias + ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“ + ้ชจ็ณป็ตฑ็–พๆ‚ฃ + + ้ชจ็ณป็ตฑ็–พๆ‚ฃ + + + 122 + NANDO:2201240 + + Congenital neuronal ceroid lipofuscinosis + ใ›ใ‚“ใฆใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + + + + ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + 122 + NANDO:2201241 + + Infantile neuronal ceroid lipofuscinosis + ใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + + + CLN1 + INCL + Infantile Batten disease + + + ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + 122 + NANDO:2201242 + + Late infantile neuronal ceroid lipofuscinosis + ใกใฏใคใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + + + CLN2 + Jansky-Bielschowsky disease + LINCL + + + ้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + 122 + NANDO:2201243 + + Juvenile neuronal ceroid lipofuscinosis + ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + + Batten disease + CLN3 + JNCL + Spielmeyer-Vogt-Sjogren disease + + ่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + 122 + NANDO:2201244 + + Adult neuronal ceroid lipofuscinosis + ใ›ใ„ใ˜ใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + + ANCL + CLN4 + Kufs disease + Kufs' disease + + ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + 122 + NANDO:2201245 + + Atypical neuronal ceroid lipofuscinosis + ใฒใฆใ„ใ‘ใ„ใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ† + ้žๅฎšๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + ้žๅฎšๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ + + + 82 + NANDO:2201246 + + Childhood cerebral adrenoleukodystrophy + ใ—ใ‚‡ใ†ใซใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + CCALD + ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 82 + NANDO:2201247 + + Adolescent cerebral adrenoleukodystrophy + ใ—ใ—ใ‚…ใ‚“ใใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + AdolCALD + ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 82 + NANDO:2201248 + + Adrenomyeloneuropathy + ใตใใ˜ใ‚“ใ›ใใšใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ + ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ + + + + AMN + Adrenoleukodystrophy + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ + + + 82 + NANDO:2201249 + + Adult cerebral adrenoleukodystrophy + ใ›ใ„ใ˜ใ‚“ใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + ACALD + ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 82 + NANDO:2201250 + + Atypical X-linked adult adrenoleukodystrophy + ใ—ใ‚‡ใ†ใฎใ†ใƒปใฎใ†ใ‹ใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 82 + NANDO:2201251 + + Addison-only adrenoleukodystrophy + ใ‚ใ˜ใใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ + ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + + + ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ + + + 82 + NANDO:2201252 + + female adrenoleukodystrophy + ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใ˜ใ‚‡ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ—ใ‚ƒ๏ผ‰ + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰ + + + + + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰ + + + 82 + NANDO:2201253 + + pre-symptomatic male adrenoleukodystrophy + ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใฏใฃใ—ใ‚‡ใ†ใพใˆใ ใ‚“ใ›ใ„ใชใฉ๏ผ‰ + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ็™บ็—‡ๅ‰็”ทๆ€ง็ญ‰๏ผ‰ + + + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใใฎไป–๏ผ‰ + ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ็™บ็—‡ๅ‰็”ทๆ€ง็ญ‰๏ผ‰ + + + 34 + NANDO:2201254 + + Heterozygous familial hypercholesterolemia + ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„ + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ + + + FHใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ + Heterozygous FH + Heterozygous familial hypercholesterolaemia + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ + + + 34 + NANDO:2201255 + + Homozygous familial hypercholesterolemia + ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใปใ‚‚ใ›ใคใ”ใ†ใŸใ„ + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“ + + + + FHใƒ›ใƒขๆŽฅๅˆไฝ“ + Homozygous FH + Homozygous familial hypercholesterolaemia + + ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“ + + + 31 + NANDO:2201256 + + Ehlers-Danlos syndrome, classical type + ใ“ใฆใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + + + classical EDS + + ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + 31 + NANDO:2201257 + + Ehlers-Danlos syndrome, hypermobility type + ใ‹ใ‚“ใ›ใคใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + + + Hypermobile EDS + + ้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + 31 + NANDO:2201258 + + Ehlers-Danlos syndrome, vascular type + ใ‘ใฃใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + + Vascular EDS + + ่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + 31 + NANDO:2201259 + + Ehlers-Danlos syndrome, kyphoscoliotic type + ใ“ใ†ใใใ‚ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + + + Kyphoscoliosis EDS + + + ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + 31 + NANDO:2201260 + + Ehlers-Danlos syndrome, arthrochalasis type + ใŸใฏใคใ‹ใ‚“ใ›ใคใ—ใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + + + Arthrochalasia EDS + + ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + 31 + NANDO:2201261 + + Ehlers-Danlos syndrome, dermatosparaxis type + ใฒใตใœใ„ใ˜ใ‚ƒใใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + + + Dermatosparaxis EDS + + ็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + 31 + NANDO:2201262 + + Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome + ใงใ‚‹ใพใŸใ‚“4ใŠใƒผใ‚Šใ‚…ใ†ใ•ใ‚“ใใฆใ‚“ใ„ใ“ใ†ใ1ใ‘ใฃใใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + + + ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค + + + 57 + NANDO:2201263 + + Acute intermittent porphyria + ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ‘ใคใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + + + + ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 57 + NANDO:2201264 + + Hereditary coproporphyria + ใ„ใงใ‚“ใ›ใ„ใ“ใทใ‚ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + ้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + + + + ้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 57 + NANDO:2201265 + + Variegate porphyria + ใ„ใ‘ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + ็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + + + + ็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 57 + NANDO:2201266 + + Erythropoietic protoporphyria + ใ›ใใŒใใ‚…ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + ่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + + + + + ่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 57 + NANDO:2201267 + + Porphyria cutanea tarda + ใฐใ‚“ใฏใคใ›ใ„ใฒใตใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + + + ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 57 + NANDO:2201268 + + Congenital erythropoietic porphyria + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + + ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 57 + NANDO:2201269 + + X-linked dominant protoporphyria + X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚†ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + + + + + + X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 57 + NANDO:2201270 + + Hepatoerythropoietic porphyria + ใ‹ใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ† + ่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + + + ่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ + + + 23 + NANDO:2201271 + + Idiopathic autoimmune hemolytic anemia + ใจใใฏใคใ›ใ„ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค + ็‰น็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ + + + Idiopathic AIHA + Idiopathic autoimmune haemolytic anaemia + ็‰น็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ + + + 23 + NANDO:2201272 + + Secondary autoimmune hemolytic anemia + ใžใใฏใคใ›ใ„ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค + ็ถš็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ + + + Secondary AIHA + Secondary autoimmune haemolytic anaemia + ็ถš็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ + + + 5 + NANDO:2201273 + + ฮฑ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข + ฮฑ-thalassemia + ใ‚ใ‚‹ใตใใ•ใ‚‰ใ›ใฟใ‚ + + + + Alpha-thalassaemia + Alpha-thalassemia + ฮฑ-thalassaemia + + ฮฑ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข + + + 5 + NANDO:2201274 + + ฮฒ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข + ฮฒ-thalassemia + ในใƒผใŸใ•ใ‚‰ใ›ใฟใ‚ + + + Beta-thalassaemia + Beta-thalassemia + ฮฒ-thalassaemia + + ฮฒ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข + + + 20 + NANDO:2201275 + + Congenital aplastic anemia + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค + ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + + Congenital aplastic anaemia + + ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + 20 + NANDO:2201276 + + Idiopathic aplastic anemia + ใจใใฏใคใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค + ็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + + + Idiopathic aplastic anaemia + + ็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + 20 + NANDO:2201277 + + Secondary aplastic anemia + ใซใ˜ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค + ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + + Secondary aplastic anaemia + ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + 20 + NANDO:2201278 + + Hepatitis-associated aplastic anemia + ใ‹ใ‚“ใˆใ‚“ใ”ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค + ่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + Hepatitis-associated aplastic anaemia + ่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ + + + 14 + NANDO:2201279 + + gp91phox-deficient chronic granulomatous disease + gp91phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + ใ˜ใƒผใดใƒผ91ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† + + + + + gp91phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + 14 + NANDO:2201280 + + p22phox-deficient chronic granulomatous disease + p22phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + ใดใƒผ22ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† + + + + + p22phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + 14 + NANDO:2201281 + + p47phox-deficient chronic granulomatous disease + p47phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + ใดใƒผ47ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† + + + + + p47phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + 14 + NANDO:2201282 + + p67phox-deficient chronic granulomatous disease + p67phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + ใดใƒผ67ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† + + + + + p67phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + 14 + NANDO:2201283 + + p40phox-deficient chronic granulomatous disease + p40phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + ใดใƒผ40ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ† + + + + + p40phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡ + + + 55 + NANDO:2201284 + + Altman type I sacrococcygeal teratoma + ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“1ใŒใŸ๏ผ‰ + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman โ… ๅž‹๏ผ‰ + + + + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman โ… ๅž‹๏ผ‰ + + + 55 + NANDO:2201285 + + Altman type II sacrococcygeal teratoma + ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“2ใŒใŸ๏ผ‰ + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIๅž‹๏ผ‰ + + + + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIๅž‹๏ผ‰ + + + 55 + NANDO:2201286 + + Altman type III sacrococcygeal teratoma + ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“3ใŒใŸ๏ผ‰ + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIIๅž‹๏ผ‰ + + + + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIIๅž‹๏ผ‰ + + + 55 + NANDO:2201287 + + Altman type IV sacrococcygeal teratoma + ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“4ใŒใŸ๏ผ‰ + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IVๅž‹๏ผ‰ + + + Presacral teratoma + + ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IVๅž‹๏ผ‰ + + + 4 + NANDO:2201288 + + Pelizaeus-Merzbacher disease + ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใณใ‚‡ใ† + ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—… + + + + + + ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—… + + + 4 + NANDO:2201289 + + Pelizaeus-Merzbacher like disease + ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใ‚ˆใ†ใณใ‚‡ใ†1 + ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘ + + + + + ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘ + + + 4 + NANDO:2201290 + + Hypomyelination with atrophy of the basal ganglia and cerebellum + ใใฆใ„ใ‹ใใŠใ‚ˆใณใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† + ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + + + + + HABC + + ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + + + 4 + NANDO:2201291 + + 18q-syndrome + 18qๆฌ ๅคฑ็—‡ๅ€™็พค + 18ใใ‚…ใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + + + + + 18qๆฌ ๅคฑ็—‡ๅ€™็พค + + + 4 + NANDO:2201292 + + Allan-Herndon-Dudley syndrome + ใ‚ใ‚‰ใ‚“ใƒปใฏใƒผใ‚“ใฉใ‚“ใƒปใ ใฉใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค + + + + AHDS + Allan-Herndon-Dudley็—‡ๅ€™็พค + MCT8ๆฌ ๆ็—‡ + Monocarboxylate transporter 8 deficiency + + ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค + + + 4 + NANDO:2201293 + + Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ็—… + Mitochondrial Hsp60 chaperonopathy + ใˆใ„ใกใˆใ™ใดใƒผ60ใ—ใ‚ƒใบใ‚ใ‚“ใณใ‚‡ใ† + + + + + HSP60 chaperon็—… + + Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ็—… + + + 4 + NANDO:2201294 + + Salla disease + ใ•ใ‚‰ใณใ‚‡ใ† + ใ‚ตใƒฉ็—… + + + + + + SD + Salla็—… + ๆœ€่ปฝ็—‡ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ + + ใ‚ตใƒฉ็—… + + + 4 + NANDO:2201295 + + Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum + ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใจใฎใ†ใ‚Šใ‚‡ใ†ใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใณใพใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† + ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณใพใ‚“ๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ + + + + ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณใพใ‚“ๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡ + + + 4 + NANDO:2201296 + + Hypomyelination and congenital cataract + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใชใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + + + + + HCC + + ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + + + 4 + NANDO:2201297 + + Ataxia, delayed dentition, and hypomyelination syndrome + ใ—ใฃใกใ‚‡ใ†ใ€ใ—ใŒใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ† + ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + + + + + ADDH + + ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ + + + 4 + NANDO:2201298 + + Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease + ใ ใคใšใ„ใŒใŸใพใฃใ—ใ‚‡ใ†ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ€ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ€ใ‚ใƒผใงใ‚“ใฐใƒผใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ€ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ† + ่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… + + + + + PCWH + ่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€Waardenburg็—‡ๅ€™็พคใ€Hirschsprung็—… + + ่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—… + + + 65 + NANDO:2201299 + + AGAT deficiency + AGATๆฌ ๆ็—‡ + ใˆใƒผใ˜ใƒผใˆใƒผใฆใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + + + + AGATๆฌ ๆ็—‡ + + + 65 + NANDO:2201300 + + GAMT deficiency + GAMTๆฌ ๆ็—‡ + ใ˜ใƒผใˆใƒผใˆใ‚€ใฆใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + + + Guanidinoacetate methyltransferase deficiency + + GAMTๆฌ ๆ็—‡ + + + 65 + NANDO:2201301 + + SLC6A8 deficiency + SLC6A8ๆฌ ๆ็—‡ + ใˆใ™ใˆใ‚‹ใ—ใƒผ6ใˆใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ† + + + + X-linked creatine transporter deficiency + + SLC6A8ๆฌ ๆ็—‡ + + + 33 + NANDO:2201302 + + non-syndromic sagittal craniosynostosis + ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + 33 + NANDO:2201303 + + non-syndromic coronal craniosynostosis + ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + 33 + NANDO:2201304 + + non-syndromic lambdoid craniosynostosis + ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰ + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆใƒฉใƒ ใƒ€็ธซๅˆ๏ผ‰ + + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + 33 + NANDO:2201305 + + non-syndromic metopic craniosynostosis + ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰ + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + 33 + NANDO:2201306 + + non-syndromic squamosal craniosynostosis + ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + ้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + 31 + NANDO:2201307 + + Apert syndrome (sagittal synostosis) + ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + 31 + NANDO:2201308 + + Apert syndrome (coronal synostosis) + ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + 31 + NANDO:2201309 + + Apert syndrome (lambdoid synostosis) + ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + 31 + NANDO:2201310 + + Apert syndrome (metopic synostosis) + ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + 31 + NANDO:2201311 + + Apert syndrome (squamosal synostosis) + ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + 32 + NANDO:2201312 + + Crouzon disease (sagittal synostosis) + ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + 32 + NANDO:2201313 + + Crouzon disease (coronal synostosis) + ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + 32 + NANDO:2201314 + + Crouzon disease (lambdoid synostosis) + ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰ + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + 32 + NANDO:2201315 + + Crouzon disease (metopic synostosis) + ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + 32 + NANDO:2201316 + + Crouzon disease (squamosal synostosis) + ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + 19 + NANDO:2201317 + + anti-NMDA receptor encephalitis + ใ“ใ†ใˆใฌใˆใ‚€ใงใƒใƒผใˆใƒผใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใฎใ†ใˆใ‚“ + ๆŠ—NMDAๅ—ๅฎนไฝ“่„ณ็‚Ž + + + + ๆŠ—NMDAๅ—ๅฎนไฝ“่„ณ็‚Ž + + + 19 + NANDO:2201318 + + anti-VGKC complex antibody encephalitis + ใ“ใ†ใถใ„ใ˜ใƒผใ‘ใƒผใ—ใƒผใตใใ”ใ†ใŸใ„ใ“ใ†ใŸใ„ใ‚ˆใ†ใ›ใ„ใฎใ†ใˆใ‚“ + ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้™ฝๆ€ง่„ณ็‚Ž + + + ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้™ฝๆ€ง่„ณ็‚Ž + + + 59 + NANDO:2201319 + + relapsing-remitting multiple sclerosis + ใ•ใ„ใฏใคใ‹ใ‚“ใ‹ใ„ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† + ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + + RRMS + relapsing-remitting MS + ๅ†็™บๅž‹MS + ๅ†็™บๅฏ›่งฃๅž‹MS + + ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + 59 + NANDO:2201320 + + primary progressive multiple sclerosis + ใ„ใกใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† + ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + + PPMS + primary progressive MS + ไธ€ๆฌกๆ€งๆ…ขๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + 59 + NANDO:2201321 + + secondary progressive multiple sclerosis + ใซใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ† + ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + + SPMS + secondary progressive + ไบŒๆฌกๆ€งๆ…ขๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS + + ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡ + + + 59 + NANDO:2201322 + + Neuromyelitis optica + ใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“ + ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž + + + + NMO + + ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž + + + 59 + NANDO:2201323 + + other multiple sclerosis + ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰ + ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆใใฎไป–๏ผ‰ + + + ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆใใฎไป–๏ผ‰ + + + 20 + NANDO:2201324 + + Purely ocular myasthenia gravis + ใ˜ใ‚…ใ‚“ใ™ใ„ใŒใ‚“ใใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† + ็ด”็ฒ‹็œผ็ญ‹ๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + ็ด”็ฒ‹็œผ็ญ‹ๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + 20 + NANDO:2201325 + + latent general myasthenia gravis + ใ›ใ‚“ใ–ใ„ใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† + ๆฝœๅœจๆ€งๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + ๆฝœๅœจๆ€งๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + 20 + NANDO:2201326 + generalized myasthenia gravis + ใ›ใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† + ๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + ๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + 16 + NANDO:2201327 + + 1ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + type I biliary atresia + โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + + โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + 16 + NANDO:2201328 + + 1ใ—ใ™ใจใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + type I cystic biliary atresia + โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + + โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + 16 + NANDO:2201329 + + 2ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + IIๅž‹่ƒ†้“้–‰้Ž–็—‡ + type II biliary atresia + + + + IIๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + 16 + NANDO:2201330 + + 3ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ† + IIIๅž‹่ƒ†้“้–‰้Ž–็—‡ + type III biliary atresia + + + + IIIๅž‹่ƒ†้“้–‰้Ž–็—‡ + + + 8 + NANDO:2201331 + + Antley-Bixler syndrome (sagittal synostosis) + ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + 8 + NANDO:2201332 + + Antley-Bixler syndrome (coronal synostosis) + ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + 8 + NANDO:2201333 + + Antley-Bixler syndrome (lambdoid synostosis) + ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + 8 + NANDO:2201334 + + Antley-Bixler syndrome (metopic synostosis) + ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + 8 + NANDO:2201335 + + Antley-Bixler syndrome (squamosal synostosis) + ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + 27 + NANDO:2201336 + + Pfeiffer syndrome (sagittal synostosis) + ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰ + + + 27 + NANDO:2201337 + + Pfeiffer syndrome (coronal synostosis) + ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰ + + + 27 + NANDO:2201338 + + Pfeiffer syndrome (lambdoid synostosis) + ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰ + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰ + + + 27 + NANDO:2201339 + + Pfeiffer syndrome (metopic synostosis) + ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰ + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰ + + + 27 + NANDO:2201340 + + Pfeiffer syndrome (squamosal synostosis) + ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰ + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰ + + + 12 + NANDO:2201341 + Epidermolysis bullosa simplex + ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + EBS + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰ + + ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201342 + Junctional epidermolysis bullosa + ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + JEB + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰ + + ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201343 + Dystrophic epidermolysis bullosa + ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + DEB + + ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201344 + + Other epidermolysis bullosa + ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰ + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + ่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + 14 + NANDO:2201345 + + Achondrogenesis type 2 + ใชใ‚“ใ“ใคใ‚€ใฏใฃใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ + ่ปŸ้ชจ็„ก็™บ็”Ÿ็—‡๏ผ’ๅž‹ + + + + + ACG2 + Langer-Saldinoๅž‹ + + + ่ปŸ้ชจ็„ก็™บ็”Ÿ็—‡๏ผ’ๅž‹ + + + 14 + NANDO:2201346 + + Hypochondrogenesis + ใชใ‚“ใ“ใคใฆใ„ใฏใฃใ›ใ„ใ—ใ‚‡ใ† + ่ปŸ้ชจไฝŽ็™บ็”Ÿ็—‡ + + + + HCG + + + ่ปŸ้ชจไฝŽ็™บ็”Ÿ็—‡ + + + 14 + NANDO:2201347 + + Platyspondylic dysplasia, Torrance type + ใธใ‚“ใบใ„ใคใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใจใƒผใ‚‰ใ‚“ใ™ใŒใŸ + ๆ‰ๅนณๆคŽ็•ฐๅฝขๆˆ็—‡ Torranceๅž‹ + + + + + ๆ‰ๅนณๆคŽ็•ฐๅฝขๆˆ็—‡ Torranceๅž‹ + + + 14 + NANDO:2201348 + + Spondyloepiphyseal dysplasia congenita + ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ๅ…ˆๅคฉๆ€ง่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡ + + + + + SEDC + + ๅ…ˆๅคฉๆ€ง่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡ + + + 14 + NANDO:2201349 + + Spondyloepimetaphyseal dysplasia, Strudwick type + ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใ™ใจใ‚‰ใฉใ†ใƒใฃใใŒใŸ + ่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ Strudwickๅž‹ + + + + SEMD-S + + ่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ Strudwickๅž‹ + + + 14 + NANDO:2201350 + + Kniest dysplasia + Kniest็•ฐๅฝขๆˆ็—‡ + ใใซใƒผใ™ใจใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + + + + + + Kniest็•ฐๅฝขๆˆ็—‡ + + + 14 + NANDO:2201351 + + Spondyloperipheral dysplasia + ใ›ใใคใ„ใพใฃใ—ใ‚‡ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ่„ŠๆคŽๆœซๆขข็•ฐๅฝขๆˆ็—‡ + + + ่„ŠๆคŽๆœซๆขข็•ฐๅฝขๆˆ็—‡ + + + 14 + NANDO:2201352 + + Mild spondyloepiphyseal dysplasia with premature-onset arthrosis + ใใ†ใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‘ใ„ใ—ใ‚‡ใ†ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ๆ—ฉ็™บๆ€ง้–ข็ฏ€็—‡ใ‚’ไผดใ†่ปฝ็—‡่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡ + + + + Mild SED with premature-onset arthrosis + + ๆ—ฉ็™บๆ€ง้–ข็ฏ€็—‡ใ‚’ไผดใ†่ปฝ็—‡่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡ + + + 14 + NANDO:2201353 + + Spondyloepiphyseal dysplasia with metatarsal shortening + ใกใ‚…ใ†ใใใ“ใคใŸใ‚“ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ไธญ่ถณ้ชจ็Ÿญ็ธฎใ‚’ไผดใ†่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡ + + + + Czech dysplasia + Czech็•ฐๅฝขๆˆ็—‡ + SED with metatarsal shortening + + ไธญ่ถณ้ชจ็Ÿญ็ธฎใ‚’ไผดใ†่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡ + + + 14 + NANDO:2201354 + + Stickler syndrome type 1 + Stickler็—‡ๅ€™็พค๏ผ‘ๅž‹ + ใ™ใฆใƒใฃใใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“1ใŒใŸ + + + + + Stickler็—‡ๅ€™็พค๏ผ‘ๅž‹ + + + 14 + NANDO:2201355 + + Stickler-like syndrome + Sticklerๆง˜็—‡ๅ€™็พค + ใ™ใฆใƒใฃใใ‚‰ใƒผใ‚ˆใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + + Sticklerๆง˜็—‡ๅ€™็พค + + + 10 + NANDO:2201356 + + X-linked recessive brachytelephalangic chondrodysplasia punctata + X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ‚Œใฃใ›ใ„ใพใฃใ›ใคใ“ใคใŸใ‚“ใ—ใ‚…ใใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + + + + CDPX1 + CDPX1 + + X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + + + 10 + NANDO:2201357 + + X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type + XๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง Conradi-Hunermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + ใˆใฃใใ™ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ“ใ‚“ใ‚‰ใƒผใงใƒใฒใ‚…ใƒผใญใ‚‹ใพใ‚“ใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + + + CDPX2 + CDPX2 + + XๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง Conradi-Hunermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + + + 10 + NANDO:2201358 + + CHILD syndrome + CHILD็—‡ๅ€™็พค + ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ + + + + + + Congenital hemidysplasia with ichthyosiform nevus and limb defects + + CHILD็—‡ๅ€™็พค + + + 10 + NANDO:2201359 + + Chondrodysplasia punctata, tibial-metacarpal type + ใ‘ใ„ใ“ใคใƒปใกใ‚…ใ†ใ—ใ‚…ใ“ใคใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + + + + + ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + + + 10 + NANDO:2201360 + + Brachytelephalangic chondrodysplasia punctata + ใพใฃใ›ใคใ“ใคใŸใ‚“ใ—ใ‚…ใใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + + + + + ๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ + + + 10 + NANDO:2201361 + + Greenberg dysplasia + Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ + ใใ‚Šใƒผใ‚“ใฐใƒผใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + + + + HEM dysplasia + + Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ + + + 10 + NANDO:2201362 + + Astley-Kendall dysplasia + Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ + ใ‚ใ™ใจใ‚Œใƒผใ‘ใ‚“ใŸใ‚‹ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + + + + Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ + + + 10 + NANDO:2201363 + + Other chondrodysplasia punctata + ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰ + ็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆใใฎไป–๏ผ‰ + + + ็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆใใฎไป–๏ผ‰ + + + 4 + NANDO:2201364 + + Melorheostosis + ใ‚Šใ‚…ใ†ใ‚ใ†ใ“ใคใ—ใ‚‡ใ† + ๆต่‹้ชจ็—‡ + + + + ใƒกใƒญใƒฌใ‚ชใ‚นใƒˆใƒผใ‚ทใ‚น + + ๆต่‹้ชจ็—‡ + + + 4 + NANDO:2201365 + + dysosteosclerosis + ใ„ใ“ใคใ›ใ„ใ“ใคใ“ใ†ใ‹ใ—ใ‚‡ใ† + ็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ + + + + + ็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ + + + 4 + NANDO:2201366 + + craniometaphyseal dysplasia + ใšใŒใ„ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ + + + CMD + + ้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ + + + 4 + NANDO:2201367 + + Metaphyseal dysplasias + ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ + + + + + Pyle disease + Pyle็—… + + ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ + + + 4 + NANDO:2201368 + + craniodiaphyseal dysplasia + ใšใŒใ„ใ“ใฃใ‹ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† + ้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ + + + + + + ้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ + + + 4 + NANDO:2201369 + + Sclerosteosis + ใ“ใ†ใ‹ใ›ใ„ใ“ใคใ—ใ‚‡ใ† + ็กฌๅŒ–ๆ€ง้ชจ็—‡ + + + + SOST + + ็กฌๅŒ–ๆ€ง้ชจ็—‡ + + + 5 + NANDO:2201370 + + stage I huge arteriovenous malformation + ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜1๏ผ‰ + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage โ… ๏ผ‰ + + + stage I AVM + stage I gigantic arteriovenous malformation + + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage โ… ๏ผ‰ + + + 5 + NANDO:2201371 + + stage II huge arteriovenous malformation + ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜2๏ผ‰ + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage II๏ผ‰ + + + stage II AVM + stage II gigantic arteriovenous malformation + + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage II๏ผ‰ + + + 5 + NANDO:2201372 + + stage III huge arteriovenous malformation + ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜3๏ผ‰ + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage III๏ผ‰ + + + stage III AVM + stage III gigantic arteriovenous malformation + + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage III๏ผ‰ + + + 5 + NANDO:2201373 + + stage IV huge arteriovenous malformation + ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜4๏ผ‰ + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage IV๏ผ‰ + + + stage IV AVM + stage IV gigantic arteriovenous malformation + + ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage IV๏ผ‰ + + + 20 + NANDO:2201374 + + bulbar myasthenia gravis + ใใ‚…ใ†ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ† + ็ƒๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + ็ƒ้บป็—บๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + ็ƒๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡ + + + 12 + NANDO:2201375 + + autosomal dominant epidermolysis bullosa simplex + ใ‚†ใ†ใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅ„ชๆ€งๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + ๅ„ชๆ€งๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201376 + + Epidermolysis bullosa simplex with muscular dystrophy + ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผใŒใฃใบใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + EBS MD + + ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201377 + + Other epidermolysis bullosa simplex + ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰ + ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + 12 + NANDO:2201378 + + Herlitz junctional epidermolysis bullosa + ใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + + Herlitz JEB + Herlitzๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201379 + + Non-Herlitz junctional epidermolysis bullosa + ใฒใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + non-Herlitz JEB + ้žHerlitzๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + ้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201380 + + Junctional epidermolysis bullosa with pyloric atresia + ใ‚†ใ†ใ‚‚ใ‚“ใธใ„ใ•ใŒใฃใบใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅนฝ้–€้–‰้Ž–ๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + EB-PA + PA-JEB + junctional epidermolysis bullosa with pyloric atresia + + ๅนฝ้–€้–‰้Ž–ๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201381 + + Other junctional epidermolysis bullosa + ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰ + ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + 12 + NANDO:2201382 + + Dominant dystrophic epidermolysis bullosa + ใ‚†ใ†ใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201383 + + Recessive dystrophic epidermolysis bullosa, generalized severe + ใ‚Œใฃใ›ใ„ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใฏใ‚“ใฑใคใŒใŸใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ† + ๅŠฃๆ€ง้‡็—‡ๆฑŽ็™บๅž‹ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + + Hallopeau-Siemensๅž‹RDEB + RDEB, generalized severe + + ๅŠฃๆ€ง้‡็—‡ๆฑŽ็™บๅž‹ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡ + + + 12 + NANDO:2201384 + + Other dystrophic epidermolysis bullosa + ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰ + ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰ + + + Relationship between a clinical entity and modes of inheritance. + has inheritance + ้บไผๅฝขๅผ + + has notification number ๅ‘Š็คบ็•ชๅท - Hiroshi Masuya - Kota Ninomiya - Orion Buske - Ryota Yamada - Shuichi Kawashima - Soichi Ogishima - Terue Takatsuki - Toshiaki Katayama - Toyofumi Fujiwara - Yasunori Yamamoto - 2020-11-11T11:00:00 - - 2020-11-11T11:00:00 - - 0.4.3 + Atsuo Kikuchi + Hiroshi Masuya + Kota Ninomiya + Orion Buske + Ryota Yamada + Shuichi Kawashima + Soichi Ogishima + Tatsuya Kushida + Terue Takatsuki + Toshiaki Katayama + Toyofumi Fujiwara + Yasunori Yamamoto + 2021-7-23T00:00:00 + + 2021-8-05T00:00:00 + + 1.0.0 diff --git a/results/nando.ttl b/results/nando.ttl index f2ff069..30083dd 100644 --- a/results/nando.ttl +++ b/results/nando.ttl @@ -1,25850 +1,32048 @@ -@prefix : . @prefix rdf: . +@prefix nando: . @prefix rdfs: . @prefix xml: . @prefix xsd: . @prefix owl: . -@prefix mondo: . -@prefix terms: . +@prefix obo: . +@prefix dcterms: . @prefix skos: . -# @base . +@prefix dc: . - -################################################################# -# Ontology -################################################################# - - rdf:type owl:Ontology ; - owl:versionIRI ; - owl:versionInfo "0.4.3"^^xsd:string ; - "Kota Ninomiya" , - "Ryota Yamada" , - "Terue Takatsuki" , - "Orion Buske" , - "Toshiaki Katayama" , - "Shuichi Kawashima" , - "Yasunori Yamamoto" , - "Hiroshi Masuya" , - "Soichi Ogishima" , - "Toyofumi Fujiwara" ; - ; - "2020-11-11T11:00:00"^^xsd:dateTime ; - "2020-11-11T11:00:00"^^xsd:dateTime . - - -################################################################# -# Datatype Properties -################################################################# - -### ๅ‘Š็คบ็•ชๅท -:hasNotificationNumber - rdf:type owl:DatatypeProperty ; - rdfs:label "ๅ‘Š็คบ็•ชๅท"@ja ; - rdfs:label "has notification number"@en . - - -################################################################# -# Classes -################################################################# - - -:0000001 - terms:identifier "0000001" ; - a owl:Class ; - rdfs:label "intractable disease"@en, "้›ฃ็—…"@ja ; + + dcterms:identifier "NANDO:0000001" ; + a owl:Class ; + rdfs:label "Intractable disease"@en, "ใชใ‚“ใณใ‚‡ใ†"@ja-Hira, "้›ฃ็—…"@ja ; rdfs:subClassOf owl:Thing ; skos:prefLabel "้›ฃ็—…"@ja . -:0000002 - terms:description "NANDO number no more in use."@en ; - terms:identifier "0000002" ; + + dcterms:identifier "NANDO:0000002" ; a owl:Class ; - rdfs:label "obsolete class"@en ; + rdfs:label "Obsolete class"@en, "obsolete class"@ja ; rdfs:subClassOf owl:Thing ; - skos:prefLabel "obsolete class"@en . + rdfs:subClassof ; + owl:deprecated true ; + skos:prefLabel "obsolete class"@ja . -:1000001 - terms:identifier "1000001" ; + + dcterms:identifier "NANDO:1000001" ; a owl:Class ; - rdfs:label "designated intractable disease"@en, "ๆŒ‡ๅฎš้›ฃ็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Designated intractable disease"@en, "ใ—ใฆใ„ใชใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๆŒ‡ๅฎš้›ฃ็—…"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๆŒ‡ๅฎš้›ฃ็—…"@ja . -:1100001 - terms:identifier "1100001" ; + + dcterms:identifier "NANDO:1100001" ; a owl:Class ; - rdfs:label "Neuromuscular disease"@en, "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Neuromuscular disease"@en, "ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019056 ; skos:prefLabel "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ"@ja . -:1100002 - terms:identifier "1100002" ; + + dcterms:identifier "NANDO:1100002" ; a owl:Class ; - rdfs:label "Metabolic disease"@en, "ไปฃ่ฌ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Metabolic disease"@en, "ใŸใ„ใ—ใ‚ƒใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ไปฃ่ฌ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004955, obo:MONDO_0005066 ; skos:prefLabel "ไปฃ่ฌ็ณป็–พๆ‚ฃ"@ja . -:1100003 - terms:identifier "1100003" ; + + dcterms:identifier "NANDO:1100003" ; a owl:Class ; - rdfs:label "Skin and connective tissue disease"@en, "็šฎ่†šใƒป็ตๅˆ็ต„็น”็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Skin and connective tissue disease"@en, "ใฒใตใƒปใ‘ใคใ”ใ†ใใ—ใใ—ใฃใ‹ใ‚“"@ja-Hira, "็šฎ่†šใƒป็ตๅˆ็ต„็น”็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "็šฎ่†šใƒป็ตๅˆ็ต„็น”็–พๆ‚ฃ"@ja . -:1100004 - terms:identifier "1100004" ; + + dcterms:identifier "NANDO:1100004" ; a owl:Class ; - rdfs:label "Immune system disease"@en, "ๅ…็–ซ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Immune system disease"@en, "ใ‚ใ‚“ใˆใใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ…็–ซ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005046 ; skos:prefLabel "ๅ…็–ซ็ณป็–พๆ‚ฃ"@ja . -:1100005 - terms:identifier "1100005" ; + + dcterms:identifier "NANDO:1100005" ; a owl:Class ; - rdfs:label "Cardiovascular disease"@en, "ๅพช็’ฐๅ™จ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Cardiovascular disease"@en, "ใ˜ใ‚…ใ‚“ใ‹ใ‚“ใใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅพช็’ฐๅ™จ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004995 ; skos:prefLabel "ๅพช็’ฐๅ™จ็ณป็–พๆ‚ฃ"@ja . -:1100006 - terms:identifier "1100006" ; + + dcterms:identifier "NANDO:1100006" ; a owl:Class ; - rdfs:label "Blood disease"@en, "่ก€ๆถฒ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Blood disease"@en, "ใ‘ใคใˆใใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่ก€ๆถฒ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005570 ; skos:prefLabel "่ก€ๆถฒ็ณป็–พๆ‚ฃ"@ja . -:1100007 - terms:identifier "1100007" ; + + dcterms:identifier "NANDO:1100007" ; a owl:Class ; - rdfs:label "Renal and urological disease"@en, "่…ŽใƒปๆณŒๅฐฟๅ™จ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Renal and urological disease"@en, "ใ˜ใ‚“ใƒปใฒใซใ‚‡ใ†ใใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่…ŽใƒปๆณŒๅฐฟๅ™จ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "่…ŽใƒปๆณŒๅฐฟๅ™จ็ณป็–พๆ‚ฃ"@ja . -:1100008 - terms:identifier "1100008" ; + + dcterms:identifier "NANDO:1100008" ; a owl:Class ; - rdfs:label "Bone and joint disease"@en, "้ชจใƒป้–ข็ฏ€็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Bone and joint disease"@en, "ใ“ใคใƒปใ‹ใ‚“ใ›ใคใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "้ชจใƒป้–ข็ฏ€็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "้ชจใƒป้–ข็ฏ€็ณป็–พๆ‚ฃ"@ja . -:1100009 - terms:identifier "1100009" ; + + dcterms:identifier "NANDO:1100009" ; a owl:Class ; - rdfs:label "Endocrine disease"@en, "ๅ†…ๅˆ†ๆณŒ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Endocrine disease"@en, "ใชใ„ใถใ‚“ใดใคใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ†…ๅˆ†ๆณŒ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005151 ; skos:prefLabel "ๅ†…ๅˆ†ๆณŒ็ณป็–พๆ‚ฃ"@ja . -:1100010 - terms:identifier "1100010" ; + + dcterms:identifier "NANDO:1100010" ; a owl:Class ; - rdfs:label "Respiratory disease"@en, "ๅ‘ผๅธๅ™จ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Respiratory disease"@en, "ใ“ใใ‚…ใ†ใใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ‘ผๅธๅ™จ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005087 ; skos:prefLabel "ๅ‘ผๅธๅ™จ็ณป็–พๆ‚ฃ"@ja . -:1100011 - terms:identifier "1100011" ; + + dcterms:identifier "NANDO:1100011" ; a owl:Class ; - rdfs:label "Eye and visual system disease"@en, "่ฆ–่ฆš็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Eye and visual system disease"@en, "ใ—ใ‹ใใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่ฆ–่ฆš็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "่ฆ–่ฆš็ณป็–พๆ‚ฃ"@ja . -:1100012 - terms:identifier "1100012" ; + + dcterms:identifier "NANDO:1100012" ; a owl:Class ; - rdfs:label "Hearing and balance disorder"@en, "่ด่ฆšใƒปๅนณ่กกๆฉŸ่ƒฝ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Hearing and balance disorder"@en, "ใกใ‚‡ใ†ใ‹ใใƒปใธใ„ใ“ใ†ใใฎใ†ใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่ด่ฆšใƒปๅนณ่กกๆฉŸ่ƒฝ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "่ด่ฆšใƒปๅนณ่กกๆฉŸ่ƒฝ็ณป็–พๆ‚ฃ"@ja . -:1100013 - terms:identifier "1100013" ; + + dcterms:identifier "NANDO:1100013" ; a owl:Class ; - rdfs:label "Gastrointestinal disease"@en, "ๆถˆๅŒ–ๅ™จ็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Gastrointestinal disease"@en, "ใ—ใ‚‡ใ†ใ‹ใใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆถˆๅŒ–ๅ™จ็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004335 ; skos:prefLabel "ๆถˆๅŒ–ๅ™จ็ณป็–พๆ‚ฃ"@ja . -:1100014 - terms:identifier "1100014" ; + + dcterms:identifier "NANDO:1100014" ; a owl:Class ; - rdfs:label "Chromosome abnormality"@en, "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Chromosome abnormality"@en, "ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019040 ; skos:prefLabel "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja . -:1100015 - terms:identifier "1100015" ; + + dcterms:identifier "NANDO:1100015" ; a owl:Class ; - rdfs:label "Otorhinolaryngological disease"@en, "่€ณ้ผป็ง‘็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Otorhinolaryngological disease"@en, "ใ˜ใณใ‹ใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่€ณ้ผป็ง‘็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024623 ; skos:prefLabel "่€ณ้ผป็ง‘็ณป็–พๆ‚ฃ"@ja . -:1200001 - :hasNotificationNumber "1" ; - terms:description "้€šๅธธๆˆไบบ็”ทๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€้บไผๆ€งไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ๅŠใณ็ญ‹่Ž็ธฎใ€็ƒ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใชใฉ่ปฝๅบฆใฎใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅ…จ็—‡ใ‚„่€็ณ–่ƒฝ็•ฐๅธธใ€่„‚่ณช็•ฐๅธธ็—‡ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚็ญ‹ๅŠ›ไฝŽไธ‹ใฎ็™บ็—‡ใฏ้€šๅธธ30๏ฝž60ๆญณ้ ƒใงใ€็ตŒ้Žใฏ็ทฉๅพ้€ฒ่กŒๆ€งใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๅ็งฐใฏ Spinal and Bulbar Muscular Atrophy ๏ผˆSBMA๏ผ‰ใงใ‚ใ‚‹ใŒใ€Kennedy diseaseใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200001" ; - terms:source ; - a owl:Class ; - rdfs:label "Spinal and bulbar muscular atrophy"@en, "็ƒ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010735, mondo:MONDO_0016113 ; + + nando:hasNotificationNumber "1" ; + dcterms:description "้€šๅธธๆˆไบบ็”ทๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€้บไผๆ€งไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ๅŠใณ็ญ‹่Ž็ธฎใ€็ƒ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใชใฉ่ปฝๅบฆใฎใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅ…จ็—‡ใ‚„่€็ณ–่ƒฝ็•ฐๅธธใ€่„‚่ณช็•ฐๅธธ็—‡ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚็ญ‹ๅŠ›ไฝŽไธ‹ใฎ็™บ็—‡ใฏ้€šๅธธ30๏ฝž60ๆญณ้ ƒใงใ€็ตŒ้Žใฏ็ทฉๅพ้€ฒ่กŒๆ€งใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๅ็งฐใฏ Spinal and Bulbar Muscular Atrophy ๏ผˆSBMA๏ผ‰ใงใ‚ใ‚‹ใŒใ€Kennedy diseaseใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200001" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spinal and bulbar muscular atrophy"@en, "ใใ‚…ใ†ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "็ƒ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "KAS"@ja, "Kennedy disease"@en, "Kennedy-Alter-Sung็—‡ๅ€™็พค"@ja, "SBMA"@en ; + skos:closeMatch obo:MONDO_0010735, obo:MONDO_0016113 ; skos:prefLabel "็ƒ่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja . -:1200002 - :hasNotificationNumber "2" ; - terms:description "ไธปใซไธญๅนดไปฅ้™ใซ็™บ็—‡ใ—ใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใจไบŒๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใŒ้ธๆŠž็š„ใซใ‹ใค้€ฒ่กŒๆ€งใซๅค‰ๆ€งใƒปๆถˆๅคฑใ—ใฆใ„ใๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ‹ขใฎ้€ฒๅฑ•ใฏๆฏ”่ผƒ็š„้€Ÿใใ€ไบบๅทฅๅ‘ผๅธๅ™จใ‚’็”จใ„ใชใ‘ใ‚Œใฐ้€šๅธธใฏ๏ผ’๏ฝž๏ผ•ๅนดใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200002" ; - terms:source ; - a owl:Class ; - rdfs:label "Amyotrophic lateral sclerosis"@en, "็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004976 ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ไธปใซไธญๅนดไปฅ้™ใซ็™บ็—‡ใ—ใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใจไบŒๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผˆไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ๏ผ‰ใŒ้ธๆŠž็š„ใซใ‹ใค้€ฒ่กŒๆ€งใซๅค‰ๆ€งใƒปๆถˆๅคฑใ—ใฆใ„ใๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ‹ขใฎ้€ฒๅฑ•ใฏๆฏ”่ผƒ็š„้€Ÿใใ€ไบบๅทฅๅ‘ผๅธๅ™จใ‚’็”จใ„ใชใ‘ใ‚Œใฐ้€šๅธธใฏ๏ผ’๏ฝž๏ผ•ๅนดใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200002" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Amyotrophic lateral sclerosis"@en, "ใใ‚“ใ„ใ—ใ‚…ใใ›ใ„ใใใ•ใใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ALS"@en ; + skos:closeMatch obo:MONDO_0004976 ; skos:prefLabel "็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡"@ja . -:1200003 - :hasNotificationNumber "3" ; - terms:description "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡๏ผˆspinal muscular atrophy๏ผšSMA๏ผ‰ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใ€IVๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95๏ผ…ใซSMN1้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ๏ผ‘๏ฝž๏ผ’ๅ‰ฒใซใŠใ„ใฆSMN๏ผ‘้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚SMN1้บไผๅญใซๅค‰็•ฐใŒใชใๆ—ฉๆœŸใซๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™Iๅž‹ใซใŠใ„ใฆใ€IGHMBP2ใฎ้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200003" ; - terms:source ; - a owl:Class ; - rdfs:label "Spinal muscular atrophy"@en, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001516 ; + + nando:hasNotificationNumber "3" ; + dcterms:description "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡๏ผˆspinal muscular atrophy๏ผšSMA๏ผ‰ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใ€IVๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95๏ผ…ใซSMN1้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ๏ผ‘๏ฝž๏ผ’ๅ‰ฒใซใŠใ„ใฆSMN๏ผ‘้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚SMN1้บไผๅญใซๅค‰็•ฐใŒใชใๆ—ฉๆœŸใซๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™Iๅž‹ใซใŠใ„ใฆใ€IGHMBP2ใฎ้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200003" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spinal muscular atrophy"@en, "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "SMA"@en ; + skos:closeMatch obo:MONDO_0001516 ; skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja . -:1200004 - :hasNotificationNumber "3" ; - terms:identifier "1200004" ; - terms:source ; - a owl:Class ; - rdfs:label "Werdnig-Hoffmann disease"@en, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ I ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Spinal muscular atrophy type1"@en, "ใ‚ฆใ‚งใƒซใƒ‰ใƒ‹ใƒƒใƒ’ใƒปใƒ›ใƒ•ใƒžใƒณ็—…"@ja ; - skos:closeMatch mondo:MONDO_0009669 ; - skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ I ๅž‹"@ja . - -:1200005 - :hasNotificationNumber "3" ; - terms:identifier "1200005" ; - terms:source ; - a owl:Class ; - rdfs:label "Dubowitz disease"@en, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ II ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Spinal muscular atrophy type2"@en, "ใƒ‡ใƒฅใƒœใƒ“ใƒƒใƒ„็—…"@ja ; - skos:closeMatch mondo:MONDO_0009124, mondo:MONDO_0009673 ; - skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ II ๅž‹"@ja . - -:1200006 - :hasNotificationNumber "3" ; - terms:identifier "1200006" ; - terms:source ; - a owl:Class ; - rdfs:label "Kugelberg-Welander disease"@en, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ III ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Spinal muscular atrophy type3"@en, "ใ‚ฏใƒผใ‚ฒใƒณใƒ™ใƒซใ‚ฐใƒปใ‚ฆใ‚งใƒฉใƒณใƒ€ใƒผ็—…"@ja ; - skos:closeMatch mondo:MONDO_0009672 ; - skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ III ๅž‹"@ja . - -:1200007 - :hasNotificationNumber "3" ; - terms:identifier "1200007" ; - terms:source ; - a owl:Class ; - rdfs:label "Spinal muscular atrophy type4"@en, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ IV ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "SMA type4"@en, "ๆˆไบบ็™บ็—‡ๅž‹"@ja ; - skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡ IV ๅž‹"@ja . - -:1200008 - :hasNotificationNumber "4" ; - terms:description "ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆprimary lateral sclerosis๏ผšPLS๏ผ‰ใฏใ€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใกใงไธ€ๆฌก๏ผˆไธŠไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฎใฟใŒ้ธๆŠž็š„ใ€้€ฒ่กŒๆ€งใซ้šœๅฎณใ•ใ‚Œใ€ไบŒๆฌก๏ผˆไธ‹ไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฏไฟใŸใ‚Œใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใ‹ใ‚‰ไธญๅนดไปฅ้™ใซใ‚ใŸใฃใฆๅน…ๅบƒใ„ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡ใฏใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ้šœๅฎณใŒๅ‰้ขใซๅ‡บใŸ็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆamyotrophic lateral sclerosis๏ผšALS๏ผ‰ใจใฎ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใชๅ ดๅˆใŒใ‚ใ‚Šใ€ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฎ้–ข้€ฃใ‚’ๆŒ‡ๆ‘˜ใ™ใ‚‹ๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆ•ฐใฏๅฐ‘ใชใ„ใ‚‚ใฎใฎใ€PLSใฎๅ‰–ๆคœไพ‹ใฏALSใ‚„ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฏ็•ฐใชใ‚‹็—…็†ๅƒใ‚’็คบใ—ใฆใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่‡จๅบŠ็š„ใซใฏๅฎถๆ—ๆญดใฎๆ˜Žใ‚‰ใ‹ใงใชใ„้บไผๆ€ง็—™ๆ€งๅฏพ้บป็—บใจใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ใ“ใฎ็‚นใซ็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ€€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใก็ด„1.6๏ฝž4.4๏ผ…ใŒPLSใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใง2005ๅนดใ‹ใ‚‰2006ๅนดใซใ‹ใ‘ใฆๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใ‚’ๅฎŸๆ–ฝใ—ใŸใจใ“ใ‚ใ€ๆ—ฅๆœฌใงใฎๆœ‰็—…็Ž‡ใฏใ€็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡็—‡ไพ‹ใฎ๏ผ’๏ผ…ใจใ„ใ†็ตๆžœใงใ‚ใฃใŸใ€‚"@ja ; - terms:identifier "1200008" ; - terms:source ; - a owl:Class ; - rdfs:label "Primary lateral sclerosis"@en, "ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018155 ; + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:1200004" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spinal muscular atrophy type I"@en, "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡Iๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SMA I"@en, "SMA type I"@en, "Werdnig-Hoffmann disease"@en, "ใ‚ฆใ‚งใƒซใƒ‰ใƒ‹ใƒƒใƒ’ใƒปใƒ›ใƒ•ใƒžใƒณ็—…"@ja, "ๆ€ฅๆ€งไนณๅ…ๅž‹SMA"@ja ; + skos:closeMatch obo:MONDO_0009669 ; + skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡Iๅž‹"@ja . + + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:1200005" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spinal muscular atrophy type II"@en, "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Dubowitz disease"@en, "SMA II"@en, "SMA type II"@en, "ใƒ‡ใƒฅใƒœใƒ“ใƒƒใƒ„็—…"@ja, "ใƒ‰ใƒฅใƒœใ‚ฆใ‚ฃใƒ„็—‡ๅ€™็พค"@ja, "ๆ…ขๆ€งไนณๅ…ๅž‹SMA"@ja ; + skos:closeMatch obo:MONDO_0009673 ; + skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:1200006" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spinal muscular atrophy type III"@en, "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Kugelberg-Welander disease"@en, "Kugelberg-Welander็—…"@ja, "SMA III"@en, "SMA type III"@en, "ใ‚ฏใƒผใ‚ฒใƒณใƒ™ใƒซใ‚ฐใƒปใ‚ฆใ‚งใƒฉใƒณใƒ€ใƒผ็—…"@ja, "ๆ…ขๆ€งๅž‹SMA"@ja, "่‹ฅๅนดๅž‹SMA"@ja ; + skos:closeMatch obo:MONDO_0009672 ; + skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:1200007" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spinal muscular atrophy type IV"@en, "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†4ใŒใŸ"@ja-Hira, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IVๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SMA IV"@en, "ๆˆไบบๅž‹SMA"@ja, "ๆˆไบบ็™บ็—‡ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0010056 ; + skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡IVๅž‹"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:description "ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆprimary lateral sclerosis๏ผšPLS๏ผ‰ใฏใ€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใกใงไธ€ๆฌก๏ผˆไธŠไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฎใฟใŒ้ธๆŠž็š„ใ€้€ฒ่กŒๆ€งใซ้šœๅฎณใ•ใ‚Œใ€ไบŒๆฌก๏ผˆไธ‹ไฝ๏ผ‰้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณใฏไฟใŸใ‚Œใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใ‹ใ‚‰ไธญๅนดไปฅ้™ใซใ‚ใŸใฃใฆๅน…ๅบƒใ„ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡ใฏใ€ไธ€ๆฌก้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ้šœๅฎณใŒๅ‰้ขใซๅ‡บใŸ็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡๏ผˆamyotrophic lateral sclerosis๏ผšALS๏ผ‰ใจใฎ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใชๅ ดๅˆใŒใ‚ใ‚Šใ€ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฎ้–ข้€ฃใ‚’ๆŒ‡ๆ‘˜ใ™ใ‚‹ๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆ•ฐใฏๅฐ‘ใชใ„ใ‚‚ใฎใฎใ€PLSใฎๅ‰–ๆคœไพ‹ใฏALSใ‚„ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใจใฏ็•ฐใชใ‚‹็—…็†ๅƒใ‚’็คบใ—ใฆใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่‡จๅบŠ็š„ใซใฏๅฎถๆ—ๆญดใฎๆ˜Žใ‚‰ใ‹ใงใชใ„้บไผๆ€ง็—™ๆ€งๅฏพ้บป็—บใจใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ใ“ใฎ็‚นใซ็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ€€้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็–พๆ‚ฃใฎใ†ใก็ด„1.6๏ฝž4.4๏ผ…ใŒPLSใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใง2005ๅนดใ‹ใ‚‰2006ๅนดใซใ‹ใ‘ใฆๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใ‚’ๅฎŸๆ–ฝใ—ใŸใจใ“ใ‚ใ€ๆ—ฅๆœฌใงใฎๆœ‰็—…็Ž‡ใฏใ€็ญ‹่Ž็ธฎๆ€งๅด็ดข็กฌๅŒ–็—‡็—‡ไพ‹ใฎ๏ผ’๏ผ…ใจใ„ใ†็ตๆžœใงใ‚ใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200008" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary lateral sclerosis"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใใใ•ใใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PLS"@en ; + skos:closeMatch obo:MONDO_0018155 ; skos:prefLabel "ๅŽŸ็™บๆ€งๅด็ดข็กฌๅŒ–็—‡"@ja . -:1200009 - :hasNotificationNumber "5" ; - terms:description "้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ๏ผˆprogressive supranuclea palsy๏ผšPSP๏ผ‰ใฏใ€ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ๆทก่’ผ็ƒใ€่ฆ–ๅบŠไธ‹ๆ ธใ€ๅฐ่„ณๆญฏ็Šถๆ ธใ€่ตคๆ ธใ€้ป’่ณชใ€่„ณๅนน่ขซ่“‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆ่›‹็™ฝใŒ็ฅž็ตŒ็ดฐ่ƒžๅ†…ๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆๅ†…ใฎtuft of abnormal fibers๏ผˆtufted astrocytes๏ผ‰ใŒใ€PSPใซ็‰น็•ฐ็š„ใชๆ‰€่ฆ‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็ฅž็ตŒๅญฆ็š„ใซใฏใ€ๆ˜“่ปขๅ€’ๆ€งใ€ๆ ธไธŠๆ€งๆณจ่ฆ–้บป็—บใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ€่ช็Ÿฅ็—‡ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็™บ็—‡ใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็”ทๆ€งใซๅคšใ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅˆ็™บ็—‡็Šถใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใซไผผใฆใ„ใ‚‹ใŒใ€ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใฏใพใ‚Œใงใ€ๆญฉ่กŒๆ™‚ใฎๆ˜“่ปขๅ€’ๆ€งใ€ใ™ใใฟ่ถณใ€ๅงฟๅ‹ขไฟๆŒ้šœๅฎณใŒ็›ฎ็ซ‹ใคใ€‚้€ฒ่กŒใ™ใ‚‹ใซใคใ‚Œใฆใ€้ ธ้ƒจใฎๅพŒๅฑˆใจๅใ‚Š่ฟ”ใฃใŸๅงฟๅ‹ขใ€ๅž‚็›ดๆ€งๆ ธไธŠๆ€ง็œผ็ƒ้‹ๅ‹•้šœๅฎณ๏ผˆๅˆๆœŸใซใฏใ€็œผ็ƒ้‹ๅ‹•ใฎ้šๆ„็š„ไธŠไธ‹ๆ–นๅ‘้‹ๅ‹•ใŒ้…ใใชใ‚Šใ€ใคใ„ใซใฏไธ‹ๆ–น่ฆ–ใŒใงใใชใใชใ‚‹ใ€‚๏ผ‰ใ€ๆง‹้Ÿณ้šœๅฎณใ‚„ๅšฅไธ‹้šœๅฎณใ€ๆƒณ่ตท้šœๅฎณใจๆ€่€ƒใฎ็ทฉๆ…ขใ‚’็‰นๅพดใจใ™ใ‚‹่ช็Ÿฅ็—‡ใ‚„ๆณจๆ„ๅŠ›ไฝŽไธ‹ใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๅพใ€…ใซๆญฉ่กŒไธ่ƒฝใ€็ซ‹ไฝไฟๆŒไธ่ƒฝใจใชใฃใฆใ€ๅฏใŸใใ‚Šใซใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200009" ; - terms:source ; - a owl:Class ; - rdfs:label "Progressive supranuclear palsy"@en, "้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019037 ; + + nando:hasNotificationNumber "5" ; + dcterms:description "้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ๏ผˆprogressive supranuclea palsy๏ผšPSP๏ผ‰ใฏใ€ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ๆทก่’ผ็ƒใ€่ฆ–ๅบŠไธ‹ๆ ธใ€ๅฐ่„ณๆญฏ็Šถๆ ธใ€่ตคๆ ธใ€้ป’่ณชใ€่„ณๅนน่ขซ่“‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆ่›‹็™ฝใŒ็ฅž็ตŒ็ดฐ่ƒžๅ†…ๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆๅ†…ใฎtuft of abnormal fibers๏ผˆtufted astrocytes๏ผ‰ใŒใ€PSPใซ็‰น็•ฐ็š„ใชๆ‰€่ฆ‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็ฅž็ตŒๅญฆ็š„ใซใฏใ€ๆ˜“่ปขๅ€’ๆ€งใ€ๆ ธไธŠๆ€งๆณจ่ฆ–้บป็—บใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ€่ช็Ÿฅ็—‡ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็™บ็—‡ใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็”ทๆ€งใซๅคšใ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅˆ็™บ็—‡็Šถใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใซไผผใฆใ„ใ‚‹ใŒใ€ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใฏใพใ‚Œใงใ€ๆญฉ่กŒๆ™‚ใฎๆ˜“่ปขๅ€’ๆ€งใ€ใ™ใใฟ่ถณใ€ๅงฟๅ‹ขไฟๆŒ้šœๅฎณใŒ็›ฎ็ซ‹ใคใ€‚้€ฒ่กŒใ™ใ‚‹ใซใคใ‚Œใฆใ€้ ธ้ƒจใฎๅพŒๅฑˆใจๅใ‚Š่ฟ”ใฃใŸๅงฟๅ‹ขใ€ๅž‚็›ดๆ€งๆ ธไธŠๆ€ง็œผ็ƒ้‹ๅ‹•้šœๅฎณ๏ผˆๅˆๆœŸใซใฏใ€็œผ็ƒ้‹ๅ‹•ใฎ้šๆ„็š„ไธŠไธ‹ๆ–นๅ‘้‹ๅ‹•ใŒ้…ใใชใ‚Šใ€ใคใ„ใซใฏไธ‹ๆ–น่ฆ–ใŒใงใใชใใชใ‚‹ใ€‚๏ผ‰ใ€ๆง‹้Ÿณ้šœๅฎณใ‚„ๅšฅไธ‹้šœๅฎณใ€ๆƒณ่ตท้šœๅฎณใจๆ€่€ƒใฎ็ทฉๆ…ขใ‚’็‰นๅพดใจใ™ใ‚‹่ช็Ÿฅ็—‡ใ‚„ๆณจๆ„ๅŠ›ไฝŽไธ‹ใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๅพใ€…ใซๆญฉ่กŒไธ่ƒฝใ€็ซ‹ไฝไฟๆŒไธ่ƒฝใจใชใฃใฆใ€ๅฏใŸใใ‚Šใซใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200009" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive supranuclear palsy"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใใ˜ใ‚‡ใ†ใ›ใ„ใพใฒ"@ja-Hira, "้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PSP"@en ; + skos:closeMatch obo:MONDO_0019037 ; skos:prefLabel "้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บ"@ja . -:1200010 - :hasNotificationNumber "6" ; - terms:description "ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใฏใ€้ป’่ณชใฎใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ดฐ่ƒžใฎๅค‰ๆ€งใ‚’ไธปไฝ“ใจใ™ใ‚‹้€ฒ่กŒๆ€งๅค‰ๆˆ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผ”ๅคง็—‡็Šถใจใ—ใฆ(๏ผ‘)ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใ€(๏ผ’)็ญ‹ๅผทๅ‰›๏ผˆ็ญ‹ๅ›บ็ธฎ๏ผ‰ใ€(๏ผ“)็„กๅ‹•ใƒปๅฏกๅ‹•ใ€(๏ผ”)ๅงฟๅ‹ขๅๅฐ„้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ“ใฎใปใ‹(๏ผ•)ๅŒๆ™‚ใซ๏ผ’ใคใฎๅ‹•ไฝœใ‚’ใ™ใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ€(๏ผ–)่‡ช็”ฑใซใƒชใ‚บใƒ ใ‚’ไฝœใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ‚’ๅŠ ใˆใ‚‹ใจใ€ใปใจใ‚“ใฉใฎ้‹ๅ‹•็—‡็Šถใ‚’่ชฌๆ˜Žใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚่ฟ‘ๅนดใงใฏ้‹ๅ‹•็—‡็Šถใฎใฟใชใ‚‰ใšใ€็ฒพ็ฅž็—‡็Šถใชใฉใฎ้ž้‹ๅ‹•็—‡็Šถใ‚‚ๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ50๏ฝž65ๆญณใซๅคšใ„ใŒใ€้ซ˜้ฝขใซใชใ‚‹ใปใฉ็™บ็—…็Ž‡ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚40ๆญณไปฅไธ‹ใง็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฏ่‹ฅๅนดๆ€งใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ“ใฎไธญใซใฏ้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200010" ; - terms:source ; - a owl:Class ; - rdfs:label "Parkinson's Disease"@en, "ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Parkinson disease"@en ; - skos:closeMatch mondo:MONDO_0005180 ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใฏใ€้ป’่ณชใฎใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ดฐ่ƒžใฎๅค‰ๆ€งใ‚’ไธปไฝ“ใจใ™ใ‚‹้€ฒ่กŒๆ€งๅค‰ๆˆ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผ”ๅคง็—‡็Šถใจใ—ใฆ(๏ผ‘)ๅฎ‰้™ๆ™‚ๆŒฏๆˆฆใ€(๏ผ’)็ญ‹ๅผทๅ‰›๏ผˆ็ญ‹ๅ›บ็ธฎ๏ผ‰ใ€(๏ผ“)็„กๅ‹•ใƒปๅฏกๅ‹•ใ€(๏ผ”)ๅงฟๅ‹ขๅๅฐ„้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ“ใฎใปใ‹(๏ผ•)ๅŒๆ™‚ใซ๏ผ’ใคใฎๅ‹•ไฝœใ‚’ใ™ใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ€(๏ผ–)่‡ช็”ฑใซใƒชใ‚บใƒ ใ‚’ไฝœใ‚‹่ƒฝๅŠ›ใฎไฝŽไธ‹ใ‚’ๅŠ ใˆใ‚‹ใจใ€ใปใจใ‚“ใฉใฎ้‹ๅ‹•็—‡็Šถใ‚’่ชฌๆ˜Žใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚่ฟ‘ๅนดใงใฏ้‹ๅ‹•็—‡็Šถใฎใฟใชใ‚‰ใšใ€็ฒพ็ฅž็—‡็Šถใชใฉใฎ้ž้‹ๅ‹•็—‡็Šถใ‚‚ๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ50๏ฝž65ๆญณใซๅคšใ„ใŒใ€้ซ˜้ฝขใซใชใ‚‹ใปใฉ็™บ็—…็Ž‡ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚40ๆญณไปฅไธ‹ใง็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฏ่‹ฅๅนดๆ€งใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ“ใฎไธญใซใฏ้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200010" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Parkinson's disease"@en, "ใฑใƒผใใ‚“ใใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PD"@en, "Parkinson disease"@en ; + skos:closeMatch obo:MONDO_0005180 ; skos:prefLabel "ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…"@ja . -:1200011 - :hasNotificationNumber "7" ; - terms:description "ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡๏ผˆcorticobasal degeneration๏ผšCBD๏ผ‰ใฏใ€ๅคง่„ณ็šฎ่ณชใจ็šฎ่ณชไธ‹็ฅž็ตŒๆ ธ๏ผˆ็‰นใซใ€้ป’่ณชใจๆทก่’ผ็ƒ๏ผ‰ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็ฅž็ตŒ็ดฐ่ƒžๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆใŒ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏใ€(๏ผ‘)ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ€(๏ผ’)ๅคง่„ณ็šฎ่ณชๅพดๅ€™ใจใ—ใฆ่‚ข็ฏ€้‹ๅ‹•ๅคฑ่กŒใ€่ฆณๅฟต้‹ๅ‹•ๅคฑ่กŒใ€็šฎ่ณชๆ€งๆ„Ÿ่ฆš้šœๅฎณใ€ๆŠŠๆกๅๅฟœใ€ไป–ไบบใฎๆ‰‹ๅพดๅ€™ใชใฉใŒ็พใ‚Œใ€ๅŠใณ(๏ผ“)้Œไฝ“ๅค–่ทฏๅพดๅ€™ใจใ—ใฆ็„กๅ‹•ใƒป็ญ‹ๅผทๅ‰›ใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใŒๅ‡บ็พใ—ใ€(๏ผ”)ใ“ใ‚Œใ‚‰ใฎ็ฅž็ตŒ็—‡ๅ€™ใซ้ก•่‘—ใชๅทฆๅณๅทฎใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ‰–ๆคœไพ‹ใฎ้›†็ฉใซใ‚ˆใ‚Šใ€ๅทฆๅณๅทฎใฎใชใ„ไพ‹ใ€่ช็Ÿฅ็—‡ใ‚„ๅคฑ่ชžใŒๅ‰ๆ™ฏใซใŸใคไพ‹ใ€้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บใฎ่‡จๅบŠ็—‡ๅ€™ใ‚’ๅ‘ˆใ—ใŸไพ‹ใชใฉ้žๅ…ธๅž‹ไพ‹ใŒๆ•ฐๅคšใๅ ฑๅ‘Šใ•ใ‚Œใ€CBDใฎ่‡จๅบŠๅƒใฏๆฅตใ‚ใฆๅคšๅฝฉใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚"@ja ; - terms:identifier "1200011" ; - terms:source ; - a owl:Class ; - rdfs:label "Corticobasal degeneration"@en, "ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0022308, mondo:MONDO_0022880 ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡๏ผˆcorticobasal degeneration๏ผšCBD๏ผ‰ใฏใ€ๅคง่„ณ็šฎ่ณชใจ็šฎ่ณชไธ‹็ฅž็ตŒๆ ธ๏ผˆ็‰นใซใ€้ป’่ณชใจๆทก่’ผ็ƒ๏ผ‰ใฎ็ฅž็ตŒ็ดฐ่ƒžใŒ่„ฑ่ฝใ—ใ€็ฅž็ตŒ็ดฐ่ƒžๅŠใณใ‚ฐใƒชใ‚ข็ดฐ่ƒžๅ†…ใซ็•ฐๅธธใƒชใƒณ้…ธๅŒ–ใ‚ฟใ‚ฆใŒ่“„็ฉใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏใ€(๏ผ‘)ไธญๅนดๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ€(๏ผ’)ๅคง่„ณ็šฎ่ณชๅพดๅ€™ใจใ—ใฆ่‚ข็ฏ€้‹ๅ‹•ๅคฑ่กŒใ€่ฆณๅฟต้‹ๅ‹•ๅคฑ่กŒใ€็šฎ่ณชๆ€งๆ„Ÿ่ฆš้šœๅฎณใ€ๆŠŠๆกๅๅฟœใ€ไป–ไบบใฎๆ‰‹ๅพดๅ€™ใชใฉใŒ็พใ‚Œใ€ๅŠใณ(๏ผ“)้Œไฝ“ๅค–่ทฏๅพดๅ€™ใจใ—ใฆ็„กๅ‹•ใƒป็ญ‹ๅผทๅ‰›ใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใŒๅ‡บ็พใ—ใ€(๏ผ”)ใ“ใ‚Œใ‚‰ใฎ็ฅž็ตŒ็—‡ๅ€™ใซ้ก•่‘—ใชๅทฆๅณๅทฎใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ‰–ๆคœไพ‹ใฎ้›†็ฉใซใ‚ˆใ‚Šใ€ๅทฆๅณๅทฎใฎใชใ„ไพ‹ใ€่ช็Ÿฅ็—‡ใ‚„ๅคฑ่ชžใŒๅ‰ๆ™ฏใซใŸใคไพ‹ใ€้€ฒ่กŒๆ€งๆ ธไธŠๆ€ง้บป็—บใฎ่‡จๅบŠ็—‡ๅ€™ใ‚’ๅ‘ˆใ—ใŸไพ‹ใชใฉ้žๅ…ธๅž‹ไพ‹ใŒๆ•ฐๅคšใๅ ฑๅ‘Šใ•ใ‚Œใ€CBDใฎ่‡จๅบŠๅƒใฏๆฅตใ‚ใฆๅคšๅฝฉใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200011" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Corticobasal degeneration"@en, "ใ ใ„ใฎใ†ใฒใ—ใคใใฆใ„ใ‹ใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CBD"@en ; + skos:closeMatch obo:MONDO_0022308, obo:MONDO_0022880 ; skos:prefLabel "ๅคง่„ณ็šฎ่ณชๅŸบๅบ•ๆ ธๅค‰ๆ€ง็—‡"@ja . -:1200012 - :hasNotificationNumber "8" ; - terms:description "ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆง˜ๅผใ‚’ใจใ‚Šใ€่ˆž่ธ็—…้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็Šถใ€่ช็Ÿฅ็—‡ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ๏ผ‘ใคใงใ€็—…ๅ› ้บไผๅญใฏ็ฌฌ๏ผ”ๆŸ“่‰ฒไฝ“็Ÿญ่…•4p16.3ใฎHTTใงใ‚ใ‚‹ใ€‚้บไผๅญ็”ฃ็‰ฉใฏhuntingtinใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚ๆตธ้€ใฎ้ซ˜ใ„้บไผ็—…ใจใ•ใ‚ŒใฆใŠใ‚Šใ€็’ฐๅขƒใซใ‚ˆใ‚‹็™บ็—‡็Ž‡ใฎๅทฎ็•ฐใฏๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ็‰นๅพดใจใ—ใฆใฎ่กจ็พไฟƒ้€ฒ็พ่ฑกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€ไธปใจใ—ใฆๆˆไบบใซ็™บ็—‡ใ—ใ€ๅฅฝ็™บๅนด้ฝขใฏ30ๆญณๅฐใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ๆœŸใ‹ใ‚‰่€้ฝขๆœŸใพใงๆง˜ใ€…ใชๅนด้ฝขใงใฎ็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๅทฎใฏใชใ„ใ€‚็ด„10๏ผ…ใฎ็—‡ไพ‹ใฏ20ๆญณไปฅไธ‹ใง็™บ็—‡ใ—ใ€่‹ฅๅนดๅž‹ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใจ็งฐใ™ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใฎใŸใ‚ใ€ๅคšใใฏไธก่ฆชใฎใฉใกใ‚‰ใ‹ใŒๆœฌ็—‡ใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹ใŒใ€ๅฐๅ…ๆœŸ็™บ็—‡ไพ‹๏ผˆ็‰นใซๅนผๅ…ๆœŸ็™บ็—‡ไพ‹๏ผ‰ใฎๅ ดๅˆใซใฏใ€่กจ็พไฟƒ้€ฒ็พ่ฑกใฎใŸใ‚ๅฐๅ…็™บ็—‡่€…ใฎ้บไผๅญ่จบๆ–ญใŒใ€ไธก่ฆชใฎใฉใกใ‚‰ใ‹ใซใจใฃใฆใฎ็™บ็—‡ๅ‰่จบๆ–ญใจใชใฃใฆใ—ใพใ†ใ“ใจใ‚‚ใ‚ใ‚Š็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็ฝน็—…ๆœŸ้–“ใฏไธ€่ˆฌใซ10๏ฝž20ๅนดใงใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใงใฏใ€่ˆž่ธ้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็ŠถใจใŒใ‚ใ‚‹ใ€‚่ˆž่ธ้‹ๅ‹•ใฏๆ—ฉๆœŸใซใฏๅ››่‚ข้ ไฝ้ƒจใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌก็ฌฌใซๅ…จ่บซๆ€งใจใชใ‚Šใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉไป–ใฎไธ้šๆ„้‹ๅ‹•ใŒๅŠ ใ‚ใ‚‹ใ€‚้‹ๅ‹•ใฎๆŒ็ถš้šœๅฎณใŒใ‚ใ‚Šใ€่ปขๅ€’ใ€ๆ‰‹ใฎๆŠŠๆŒๆŒ็ถš้šœๅฎณใฎ่ฆๅ› ใจใชใ‚‹ใ€‚็ฒพ็ฅž็—‡็Šถใซใฏไบบๆ ผ้šœๅฎณใจๆ˜“ๅˆบๆฟ€ๆ€งใ€ใ†ใคใชใฉใฎๆ„Ÿๆƒ…้šœๅฎณใจ่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚้€ฒ่กŒๆœŸใซใชใ‚‹ใจ็ซ‹ไฝไฟๆŒใŒไธ่ƒฝใจใชใ‚Šใ€่‡ฅๅบŠ็Šถๆ…‹ใจใชใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200012" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆง˜ๅผใ‚’ใจใ‚Šใ€่ˆž่ธ็—…้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็Šถใ€่ช็Ÿฅ็—‡ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใฏใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ๏ผ‘ใคใงใ€็—…ๅ› ้บไผๅญใฏ็ฌฌ๏ผ”ๆŸ“่‰ฒไฝ“็Ÿญ่…•4p16.3ใฎHTTใงใ‚ใ‚‹ใ€‚้บไผๅญ็”ฃ็‰ฉใฏhuntingtinใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚ๆตธ้€ใฎ้ซ˜ใ„้บไผ็—…ใจใ•ใ‚ŒใฆใŠใ‚Šใ€็’ฐๅขƒใซใ‚ˆใ‚‹็™บ็—‡็Ž‡ใฎๅทฎ็•ฐใฏๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใƒใƒชใ‚ฐใƒซใ‚ฟใƒŸใƒณ็—…ใฎ็‰นๅพดใจใ—ใฆใฎ่กจ็พไฟƒ้€ฒ็พ่ฑกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€ไธปใจใ—ใฆๆˆไบบใซ็™บ็—‡ใ—ใ€ๅฅฝ็™บๅนด้ฝขใฏ30ๆญณๅฐใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ๆœŸใ‹ใ‚‰่€้ฝขๆœŸใพใงๆง˜ใ€…ใชๅนด้ฝขใงใฎ็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๅทฎใฏใชใ„ใ€‚็ด„10๏ผ…ใฎ็—‡ไพ‹ใฏ20ๆญณไปฅไธ‹ใง็™บ็—‡ใ—ใ€่‹ฅๅนดๅž‹ใƒใƒณใƒใƒณใƒˆใƒณ็—…ใจ็งฐใ™ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใฎใŸใ‚ใ€ๅคšใใฏไธก่ฆชใฎใฉใกใ‚‰ใ‹ใŒๆœฌ็—‡ใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹ใŒใ€ๅฐๅ…ๆœŸ็™บ็—‡ไพ‹๏ผˆ็‰นใซๅนผๅ…ๆœŸ็™บ็—‡ไพ‹๏ผ‰ใฎๅ ดๅˆใซใฏใ€่กจ็พไฟƒ้€ฒ็พ่ฑกใฎใŸใ‚ๅฐๅ…็™บ็—‡่€…ใฎ้บไผๅญ่จบๆ–ญใŒใ€ไธก่ฆชใฎใฉใกใ‚‰ใ‹ใซใจใฃใฆใฎ็™บ็—‡ๅ‰่จบๆ–ญใจใชใฃใฆใ—ใพใ†ใ“ใจใ‚‚ใ‚ใ‚Š็•™ๆ„ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็ฝน็—…ๆœŸ้–“ใฏไธ€่ˆฌใซ10๏ฝž20ๅนดใงใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใงใฏใ€่ˆž่ธ้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใจ็ฒพ็ฅž็—‡็ŠถใจใŒใ‚ใ‚‹ใ€‚่ˆž่ธ้‹ๅ‹•ใฏๆ—ฉๆœŸใซใฏๅ››่‚ข้ ไฝ้ƒจใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌก็ฌฌใซๅ…จ่บซๆ€งใจใชใ‚Šใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉไป–ใฎไธ้šๆ„้‹ๅ‹•ใŒๅŠ ใ‚ใ‚‹ใ€‚้‹ๅ‹•ใฎๆŒ็ถš้šœๅฎณใŒใ‚ใ‚Šใ€่ปขๅ€’ใ€ๆ‰‹ใฎๆŠŠๆŒๆŒ็ถš้šœๅฎณใฎ่ฆๅ› ใจใชใ‚‹ใ€‚็ฒพ็ฅž็—‡็Šถใซใฏไบบๆ ผ้šœๅฎณใจๆ˜“ๅˆบๆฟ€ๆ€งใ€ใ†ใคใชใฉใฎๆ„Ÿๆƒ…้šœๅฎณใจ่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚้€ฒ่กŒๆœŸใซใชใ‚‹ใจ็ซ‹ไฝไฟๆŒใŒไธ่ƒฝใจใชใ‚Šใ€่‡ฅๅบŠ็Šถๆ…‹ใจใชใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200012" ; + dcterms:source ; a owl:Class ; - rdfs:label "Huntington's Disease"@en, "ใƒใƒณใƒใƒณใƒˆใƒณ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Huntington's disease"@en, "ใฏใ‚“ใกใ‚“ใจใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒใƒณใƒใƒณใƒˆใƒณ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Huntington disease"@en ; - skos:closeMatch mondo:MONDO_0007739 ; + skos:closeMatch obo:MONDO_0007739 ; skos:prefLabel "ใƒใƒณใƒใƒณใƒˆใƒณ็—…"@ja . -:1200013 - :hasNotificationNumber "9" ; - terms:description "็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡ใซใฏใ€ๆ•ฐ็–พๆ‚ฃใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไปฃ่กจใฏใ€ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—…ใจMcLeod็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ใƒใƒณใƒใƒณใƒˆใƒณ็—…้กž็—‡ๅž‹๏ผˆHuntington disease-like2๏ผ‰ใ‚„ใƒ‘ใƒณใƒ†ใƒˆใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆPahtothenate kinase associated neurodegeneration๏ผšPKAN๏ผ‰๏ผˆใƒใƒฉใƒผใƒซใƒ•ใ‚ฉใƒซใƒ‡ใƒณใƒปใ‚ทใƒฅใƒ‘ใƒƒใƒ„็—‡ๅ€™็พค๏ผˆHallervorden Spatz syndrome๏ผ‰๏ผ‰ใชใฉใ‚‚ใ“ใฎ็พคใซๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆœซๆขข่ก€ใซๆœ‰ๆฃ˜่ตค่ก€็ƒใ‚’่ชใ‚ใ€็ฅž็ตŒๅญฆ็š„ใซใฏ่ˆž่ธ้‹ๅ‹•ใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใ‚’่ชใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฎ็–ซๅญฆ่ชฟๆŸปใงใฏๅ…จๅ›ฝใง็ด„100ไบบ็จ‹ๅบฆใฎๆ‚ฃ่€…ใŒ่ฆ‹ๅ‡บใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200013" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡ใซใฏใ€ๆ•ฐ็–พๆ‚ฃใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไปฃ่กจใฏใ€ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—…ใจMcLeod็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ใƒใƒณใƒใƒณใƒˆใƒณ็—…้กž็—‡ๅž‹๏ผˆHuntington disease-like2๏ผ‰ใ‚„ใƒ‘ใƒณใƒ†ใƒˆใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆPahtothenate kinase associated neurodegeneration๏ผšPKAN๏ผ‰๏ผˆใƒใƒฉใƒผใƒซใƒ•ใ‚ฉใƒซใƒ‡ใƒณใƒปใ‚ทใƒฅใƒ‘ใƒƒใƒ„็—‡ๅ€™็พค๏ผˆHallervorden Spatz syndrome๏ผ‰๏ผ‰ใชใฉใ‚‚ใ“ใฎ็พคใซๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆœซๆขข่ก€ใซๆœ‰ๆฃ˜่ตค่ก€็ƒใ‚’่ชใ‚ใ€็ฅž็ตŒๅญฆ็š„ใซใฏ่ˆž่ธ้‹ๅ‹•ใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ้šๆ„้‹ๅ‹•ใ‚’่ชใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฎ็–ซๅญฆ่ชฟๆŸปใงใฏๅ…จๅ›ฝใง็ด„100ไบบ็จ‹ๅบฆใฎๆ‚ฃ่€…ใŒ่ฆ‹ๅ‡บใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200013" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neuroacanthocytosis"@en, "็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008695, mondo:MONDO_0016987 ; + rdfs:label "Neuroacanthocytosis"@en, "ใ—ใ‚“ใ‘ใ„ใ‚†ใ†ใใ‚‡ใใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016987 ; skos:prefLabel "็ฅž็ตŒๆœ‰ๆฃ˜่ตค่ก€็ƒ็—‡"@ja . -:1200014 - :hasNotificationNumber "9" ; - terms:identifier "1200014" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:identifier "NANDO:1200014" ; + dcterms:source ; a owl:Class ; - rdfs:label "Choreoacanthocytosis"@en, "ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008695 ; + rdfs:label "Chorea-acanthocytosis"@en, "ใ‚†ใ†ใใ‚‡ใใ›ใฃใ‘ใฃใใ‚…ใ†ใถใจใ†ใณใ‚‡ใ†"@ja-Hira, "ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ChAc"@en, "Choreoacanthocytosis"@en ; + skos:closeMatch obo:MONDO_0008695 ; skos:prefLabel "ๆœ‰ๆฃ˜่ตค่ก€็ƒ่ˆž่ธ็—…"@ja . -:1200015 - :hasNotificationNumber "9" ; - terms:identifier "1200015" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:identifier "NANDO:1200015" ; + dcterms:source ; a owl:Class ; - rdfs:label "McLeod syndrome"@en, "Mcleod็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018945 ; + rdfs:label "McLeod syndrome"@en, "Mcleod็—‡ๅ€™็พค"@ja, "ใพใใ‚‰ใ†ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MLS"@en, "ใƒžใ‚ฏใƒญใƒผใƒ‰็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018945 ; skos:prefLabel "Mcleod็—‡ๅ€™็พค"@ja . -:1200016 - :hasNotificationNumber "10" ; - terms:description "ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…๏ผˆCharcot-Marie-Tooth disease๏ผšCMT๏ผ‰ใฏใ€่‡จๅบŠ็—‡็Šถใ€้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€็ฅž็ตŒ็—…็†ๆ‰€่ฆ‹ใซๅŸบใฅใ„ใฆใ€่„ฑ้ซ„ๅž‹ใ€่ปธ็ดขๅž‹ใ€ไธญ้–“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่„ฑ้ซ„ๅž‹CMTใงใฏใ€ไธ€่ˆฌ็š„ใซ็ฅž็ตŒไผๅฐŽ้€Ÿๅบฆใฏ38m/sไปฅไธ‹ใ€ๆดปๅ‹•้›ปไฝใฏใปใผๆญฃๅธธๅˆใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏ็ฏ€ๆ€ง่„ฑ้ซ„ใ€onion bulb ใฎๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚่ปธ็ดขๅž‹CMTใงใฏใ€็ฅž็ตŒไผๅฐŽ้€ŸๅบฆใฏๆญฃๅธธใพใŸใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ™ใŒใ€ๆดปๅ‹•้›ปไฝใฏๆ˜Žใ‚‰ใ‹ใซไฝŽไธ‹ใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏๆœ‰้ซ„็ทš็ถญใฎ่‘—ๆ˜Žใชๆธ›ๅฐ‘ใ‚’็คบใ™ใ€‚ใ„ใšใ‚Œใจใ‚‚ๅˆ†ใ‘ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใฏใ€ไธญ้–“ๅž‹CMTใจใ—ใฆใ„ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒๆฌกใ€…ใจๆ˜Žใ‚‰ใ‹ใซใชใ‚Šใ€ใใฎ็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200016" ; - terms:source ; - a owl:Class ; - rdfs:label "Charcot-Marie-Tooth disease"@en, "ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015626 ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…๏ผˆCharcot-Marie-Tooth disease๏ผšCMT๏ผ‰ใฏใ€่‡จๅบŠ็—‡็Šถใ€้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€็ฅž็ตŒ็—…็†ๆ‰€่ฆ‹ใซๅŸบใฅใ„ใฆใ€่„ฑ้ซ„ๅž‹ใ€่ปธ็ดขๅž‹ใ€ไธญ้–“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่„ฑ้ซ„ๅž‹CMTใงใฏใ€ไธ€่ˆฌ็š„ใซ็ฅž็ตŒไผๅฐŽ้€Ÿๅบฆใฏ38m/sไปฅไธ‹ใ€ๆดปๅ‹•้›ปไฝใฏใปใผๆญฃๅธธๅˆใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏ็ฏ€ๆ€ง่„ฑ้ซ„ใ€onion bulb ใฎๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚่ปธ็ดขๅž‹CMTใงใฏใ€็ฅž็ตŒไผๅฐŽ้€ŸๅบฆใฏๆญฃๅธธใพใŸใฏ่ปฝๅบฆไฝŽไธ‹ใ‚’็คบใ™ใŒใ€ๆดปๅ‹•้›ปไฝใฏๆ˜Žใ‚‰ใ‹ใซไฝŽไธ‹ใ—ใ€่…“่…น็ฅž็ตŒๆ‰€่ฆ‹ใงใฏๆœ‰้ซ„็ทš็ถญใฎ่‘—ๆ˜Žใชๆธ›ๅฐ‘ใ‚’็คบใ™ใ€‚ใ„ใšใ‚Œใจใ‚‚ๅˆ†ใ‘ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใฏใ€ไธญ้–“ๅž‹CMTใจใ—ใฆใ„ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒๆฌกใ€…ใจๆ˜Žใ‚‰ใ‹ใซใชใ‚Šใ€ใใฎ็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200016" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Charcot-Marie-Tooth disease"@en, "ใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†"@ja-Hira, "ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CMT"@en ; + skos:closeMatch obo:MONDO_0015626 ; skos:prefLabel "ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja . -:1200017 - :hasNotificationNumber "10" ; - terms:identifier "1200017" ; - terms:source ; - a owl:Class ; - rdfs:label "Charcot-Marie-Tooth disease type 1"@en, "่„ฑ้ซ„ๅž‹CMT"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019011 ; - skos:prefLabel "่„ฑ้ซ„ๅž‹CMT"@ja . - -:1200018 - :hasNotificationNumber "10" ; - terms:identifier "1200018" ; - terms:source ; - a owl:Class ; - rdfs:label "Charcot-Marie-Tooth disease type 2"@en, "่ปธ็ดขๅž‹CMT"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018993 ; - skos:prefLabel "่ปธ็ดขๅž‹CMT"@ja . - -:1200019 - :hasNotificationNumber "10" ; - terms:identifier "1200019" ; - terms:source ; - a owl:Class ; - rdfs:label "Intermediate Charcot-Marie-Tooth disease"@en, "ไธญ้–“ๅž‹CMT"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018778 ; - skos:prefLabel "ไธญ้–“ๅž‹CMT"@ja . - -:1200020 - :hasNotificationNumber "11" ; - terms:description "้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMG๏ผ‰ใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎๅˆ†ๅญใซๅฏพใ™ใ‚‹่‡“ๅ™จ็‰น็•ฐ็š„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใฏ่ƒธ่…บ่…ซใ‚„่ƒธ่…บ้Žๅฝขๆˆใชใฉใฎ่ƒธ่…บ็•ฐๅธธใŒๅˆไฝตใ™ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซใฎๆจ™็š„ๅˆ†ๅญใฏใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAChR๏ผ‰ใŒ85๏ผ…ใ€็ญ‹็‰น็•ฐ็š„ๅ—ๅฎนไฝ“ๅž‹ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใŒ5-10๏ผ…ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚LDLๅ—ๅฎนไฝ“้–ข้€ฃ่›‹็™ฝ4๏ผˆLrp4๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใŒใ€ไป–ใซใ‚‚้™ฝๆ€งใซใชใ‚‹็–พๆ‚ฃใŒใ‚ใ‚Šใ€ใใฎๆ„็พฉใซใคใ„ใฆใฏๆคœ่จŽใ‚’่ฆใ™ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏ้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใงใ€้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚Š็ญ‹ๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹๏ผˆๆ˜“็–ฒๅŠดๆ€ง๏ผ‰ใ€ๅค•ๆ–นใซ็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹๏ผˆๆ—ฅๅ†…ๅค‰ๅ‹•๏ผ‰ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏใ€็œผ็žผไธ‹ๅž‚ใ€่ค‡่ฆ–ใชใฉใฎ็œผ็—‡็Šถใ€ๅ››่‚ขใƒป้ ธ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹๏ฝคๆง‹้Ÿณ้šœๅฎณ๏ฝคๅšฅไธ‹้šœๅฎณใง๏ฝค้‡็—‡ไพ‹ใงใฏๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚"@ja ; - terms:identifier "1200020" ; - terms:source ; - a owl:Class ; - rdfs:label "Myasthenia gravis"@en, "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009688 ; + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:1200017" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Charcot-Marie-Tooth disease type 1"@en, "ใ ใคใšใ„ใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†"@ja-Hira, "่„ฑ้ซ„ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CMT1"@en, "่„ฑ้ซ„ๅž‹CMT"@ja ; + skos:closeMatch obo:MONDO_0019011 ; + skos:prefLabel "่„ฑ้ซ„ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:1200018" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Charcot-Marie-Tooth disease type 2"@en, "ใ˜ใใ•ใใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†"@ja-Hira, "่ปธ็ดขๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CMT2"@en, "่ปธ็ดขๅž‹CMT"@ja ; + skos:closeMatch obo:MONDO_0018993 ; + skos:prefLabel "่ปธ็ดขๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:1200019" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intermediate Charcot-Marie-Tooth disease"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ‚ƒใ‚‹ใ“ใƒผใƒปใพใ‚Šใƒผใƒปใจใ…ใƒผใ™ใณใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Intermediate CMT"@en, "ไธญ้–“ๅž‹CMT"@ja ; + skos:closeMatch obo:MONDO_0018778 ; + skos:prefLabel "ไธญ้–“ๅž‹ใ‚ทใƒฃใƒซใ‚ณใƒผใƒปใƒžใƒชใƒผใƒปใƒˆใ‚ฅใƒผใ‚น็—…"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:description "้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMG๏ผ‰ใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎๅˆ†ๅญใซๅฏพใ™ใ‚‹่‡“ๅ™จ็‰น็•ฐ็š„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใฏ่ƒธ่…บ่…ซใ‚„่ƒธ่…บ้Žๅฝขๆˆใชใฉใฎ่ƒธ่…บ็•ฐๅธธใŒๅˆไฝตใ™ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซใฎๆจ™็š„ๅˆ†ๅญใฏใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAChR๏ผ‰ใŒ85๏ผ…ใ€็ญ‹็‰น็•ฐ็š„ๅ—ๅฎนไฝ“ๅž‹ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใŒ5-10๏ผ…ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚LDLๅ—ๅฎนไฝ“้–ข้€ฃ่›‹็™ฝ4๏ผˆLrp4๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใŒใ€ไป–ใซใ‚‚้™ฝๆ€งใซใชใ‚‹็–พๆ‚ฃใŒใ‚ใ‚Šใ€ใใฎๆ„็พฉใซใคใ„ใฆใฏๆคœ่จŽใ‚’่ฆใ™ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏ้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใงใ€้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚Š็ญ‹ๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹๏ผˆๆ˜“็–ฒๅŠดๆ€ง๏ผ‰ใ€ๅค•ๆ–นใซ็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹๏ผˆๆ—ฅๅ†…ๅค‰ๅ‹•๏ผ‰ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏใ€็œผ็žผไธ‹ๅž‚ใ€่ค‡่ฆ–ใชใฉใฎ็œผ็—‡็Šถใ€ๅ››่‚ขใƒป้ ธ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹๏ฝคๆง‹้Ÿณ้šœๅฎณ๏ฝคๅšฅไธ‹้šœๅฎณใง๏ฝค้‡็—‡ไพ‹ใงใฏๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1200020" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Myasthenia gravis"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "MG"@en ; + skos:closeMatch obo:MONDO_0009688 ; skos:prefLabel "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja . -:1200021 - :hasNotificationNumber "12" ; - terms:description "ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พคใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจๅˆ†ๅญใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅŠใณๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚„ๆ˜“็–ฒๅŠดๆ€งใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ๆฌ ๆ็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใฎใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃๆ™‚้–“ใŒ็•ฐๅธธๅปถ้•ทใ™ใ‚‹ใ€Œใ‚นใƒญใƒผใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€็•ฐๅธธ็Ÿญ็ธฎใ™ใ‚‹ใ€Œใƒ•ใ‚กใƒผใ‚นใƒˆใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€้ชจๆ ผ็ญ‹ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃไธๅ…จใ‚’่ตทใ“ใ™ใ€ŒใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ็ญ‹็„กๅŠ›็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅˆ†่งฃ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ใ€็ฅž็ตŒ็ต‚ๆœซใฎใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ†ๅˆๆˆ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็™บไฝœๆ€ง็„กๅ‘ผๅธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ใ€ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200021" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital myasthenic syndrome"@en, "ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018940 ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พคใฏใ€็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจๅˆ†ๅญใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅŠใณๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚„ๆ˜“็–ฒๅŠดๆ€งใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ๆฌ ๆ็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ใฎใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃๆ™‚้–“ใŒ็•ฐๅธธๅปถ้•ทใ™ใ‚‹ใ€Œใ‚นใƒญใƒผใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€็•ฐๅธธ็Ÿญ็ธฎใ™ใ‚‹ใ€Œใƒ•ใ‚กใƒผใ‚นใƒˆใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พคใ€ใ€้ชจๆ ผ็ญ‹ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซใฎ้–‹ๅฃไธๅ…จใ‚’่ตทใ“ใ™ใ€ŒใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ็ญ‹็„กๅŠ›็—‡ใ€ใ€ใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅˆ†่งฃ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ใ€็ฅž็ตŒ็ต‚ๆœซใฎใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ†ๅˆๆˆ้…ต็ด ใŒๆฌ ๆใ‚’ใ™ใ‚‹ใ€Œ็™บไฝœๆ€ง็„กๅ‘ผๅธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ใ€ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200021" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital myasthenic syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CMS"@en ; + skos:closeMatch obo:MONDO_0018940 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡ๅ€™็พค"@ja . -:1200022 - :hasNotificationNumber "13" ; - terms:description "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆmultiple sclerosis๏ผšMS๏ผ‰ใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฎไธญใซใฏใ€่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆNeuromyelitis Optica Spectrum Disorders๏ผšNMOSD๏ผ‰ใฎ็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOSDใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚MSใจNMOSDใฏใ€็พๆ™‚็‚นใงใฏใ€๏ผ‘ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200022" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆmultiple sclerosis๏ผšMS๏ผ‰ใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฎไธญใซใฏใ€่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆNeuromyelitis Optica Spectrum Disorders๏ผšNMOSD๏ผ‰ใฎ็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOSDใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚MSใจNMOSDใฏใ€็พๆ™‚็‚นใงใฏใ€๏ผ‘ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200022" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multiple sclerosis/Neuromyelitis Optica"@en, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Multiple sclerosis/Neuromyelitis optica spectrum disorders"@en, "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†๏ผใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“"@ja-Hira, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MS/NMO"@en, "MS/NMOSD"@en, "Multiple sclerosis/Neuromyelitis optica"@en ; skos:prefLabel "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja . -:1200023 - :hasNotificationNumber "13" ; - terms:identifier "1200023" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:1200023" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multiple sclerosis"@en, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005301 ; + rdfs:label "Multiple sclerosis"@en, "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MS"@en ; + skos:closeMatch obo:MONDO_0005301 ; skos:prefLabel "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . -:1200024 - :hasNotificationNumber "13" ; - terms:identifier "1200024" ; - terms:source ; - a owl:Class ; - rdfs:label "Relapsing-remittingย multiple sclerosis"@en, "ๅ†็™บๅฏ›่งฃๅž‹MS"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005314 ; - skos:prefLabel "ๅ†็™บๅฏ›่งฃๅž‹MS"@ja . - -:1200025 - :hasNotificationNumber "13" ; - terms:identifier "1200025" ; - terms:source ; - a owl:Class ; - rdfs:label "primaryย progressiveย multiple sclerosis"@en, "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000451 ; - skos:prefLabel "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS"@ja . - -:1200026 - :hasNotificationNumber "13" ; - terms:identifier "1200026" ; - terms:source ; - a owl:Class ; - rdfs:label "secondaryย progressiveย multiple sclerosis"@en, "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000450 ; - skos:prefLabel "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS"@ja . - -:1200027 - :hasNotificationNumber "13" ; - terms:identifier "1200027" ; - terms:source ; - a owl:Class ; - rdfs:label "Neuromyelitis Optica"@en, "่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019100 ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:1200024" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Relapsing-remitting multiple sclerosis"@en, "ใ•ใ„ใฏใคใ‹ใ‚“ใ‹ใ„ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "RRMS"@en, "relapsing-remitting MS"@en, "ๅ†็™บๅž‹MS"@ja, "ๅ†็™บๅฏ›่งฃๅž‹MS"@ja ; + skos:closeMatch obo:MONDO_0005314 ; + skos:prefLabel "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:1200025" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary progressive multiple sclerosis"@en, "ใ„ใกใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PPMS"@en, "primary progressive MS"@en, "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹MS"@ja ; + skos:closeMatch obo:MONDO_0000451 ; + skos:prefLabel "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:1200026" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Secondary progressive multiple sclerosis"@en, "ใซใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SPMS"@en, "secondary progressive MS"@en, "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS"@ja ; + skos:closeMatch obo:MONDO_0000450 ; + skos:prefLabel "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:1200027" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neuromyelitis optica spectrum disorders"@en, "ใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“"@ja-Hira, "่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "NMOSD"@en ; + skos:closeMatch obo:MONDO_0019100 ; skos:prefLabel "่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja . -:1200028 - :hasNotificationNumber "13" ; - terms:identifier "1200028" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:1200028" ; + dcterms:source ; a owl:Class ; - rdfs:label "Balรณ concentric sclerosis"@en, "Balรณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใƒใƒญใƒผๅŒๅฟƒๅ††็กฌๅŒ–็—‡"@ja ; - skos:closeMatch mondo:MONDO_0016430 ; + rdfs:label "Balรณ concentric sclerosis"@en, "Balรณ็—…"@ja, "ใฐใ‚ใƒผใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "BCS"@en, "Balรณ's disease"@en, "ใƒใƒญใƒผๅŒๅฟƒๅ††็กฌๅŒ–็—‡"@ja ; + skos:closeMatch obo:MONDO_0016430 ; skos:prefLabel "Balรณ็—…"@ja . -:1200029 - :hasNotificationNumber "14" ; - terms:description "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ€๏ผ’ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใ‚ใ‚‹ใ„ใฏ้šŽๆฎตๆ€งใ€ๅ†็™บๆ€งใฎๅทฆๅณๅฏพ็งฐๆ€งใฎๅ››่‚ขใฎ้ ไฝใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใƒปๆ„Ÿ่ฆš้šœๅฎณใ‚’ไธปๅพดใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๆœซๆขข็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ๆœซๆขข็ฅž็ตŒใƒŸใ‚จใƒชใƒณใฎๆง‹ๆˆๆˆๅˆ†ใซๅฏพใ™ใ‚‹ๅ…็–ซ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใšใ‚‹่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200029" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ€๏ผ’ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใ‚ใ‚‹ใ„ใฏ้šŽๆฎตๆ€งใ€ๅ†็™บๆ€งใฎๅทฆๅณๅฏพ็งฐๆ€งใฎๅ››่‚ขใฎ้ ไฝใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใƒปๆ„Ÿ่ฆš้šœๅฎณใ‚’ไธปๅพดใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๆœซๆขข็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ๆœซๆขข็ฅž็ตŒใƒŸใ‚จใƒชใƒณใฎๆง‹ๆˆๆˆๅˆ†ใซๅฏพใ™ใ‚‹ๅ…็–ซ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใšใ‚‹่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฉณ็ดฐใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200029" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic Inflammatory Demyelinating Polyneuropathy /Multifocal Motor Neuropathy"@en, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Chronic inflammatory demyelinating polyneuropathy/Multifocal motor neuropathy"@en, "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“๏ผ ใŸใใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใซใ‚…ใƒผใ‚ใฑใกใƒผ"@ja-Hira, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CIDP/MMN"@en ; skos:prefLabel "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž๏ผๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja . -:1200030 - :hasNotificationNumber "14" ; - terms:identifier "1200030" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:1200030" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Chronic Inflammatory Demyelinating Polyneuropathy"@en ; - skos:closeMatch mondo:MONDO_0002335, mondo:MONDO_0007691 ; + rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en, "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CIDP"@en ; + skos:closeMatch obo:MONDO_0002335, obo:MONDO_0006702, obo:MONDO_0007691 ; skos:prefLabel "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja . -:1200031 - :hasNotificationNumber "14" ; - terms:identifier "1200031" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:1200031" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multifocal motor neuropathy"@en, "ๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Multifocal Motor Neuropathy"@en ; - skos:closeMatch mondo:MONDO_0018979 ; + rdfs:label "Multifocal motor neuropathy"@en, "ใŸใใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใซใ‚…ใƒผใ‚ใฑใกใƒผ"@ja-Hira, "ๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MMN"@en ; + skos:closeMatch obo:MONDO_0018979 ; skos:prefLabel "ๅคšๅทฃๆ€ง้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja . -:1200032 - :hasNotificationNumber "15" ; - terms:description "่‡จๅบŠ็š„ใซใฏไธญ้ซ˜ๅนดไปฅ้™ใซ็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใงๅ››่‚ขใ€็‰นใซๅคง่…ฟ้ƒจใ‚„ๆ‰‹ๆŒ‡ใƒปๆ‰‹้ฆ–ๅฑˆ็ญ‹ใ‚’ไพตใ—ใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ใซใ‚ˆใ‚‹ๅŠนๆžœใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚ไธ€ๆ™‚็š„ใงใ‚ใ‚‹ใ€‚็ญ‹ใธใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใ€็‰นใซ้žๅฃŠๆญป็ทš็ถญใธใฎๆตธๆฝคใŒ็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€‚็ญ‹็ทš็ถญใฎ็ธๅ–ใ‚Š็ฉบ่ƒžใจไฝตใ›ใฆ็ญ‹็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200032" ; - terms:source ; - a owl:Class ; - rdfs:label "Inclusion body myositis"@en, "ๅฐๅ…ฅไฝ“็ญ‹็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007827 ; + + nando:hasNotificationNumber "15" ; + dcterms:description "่‡จๅบŠ็š„ใซใฏไธญ้ซ˜ๅนดไปฅ้™ใซ็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใงๅ››่‚ขใ€็‰นใซๅคง่…ฟ้ƒจใ‚„ๆ‰‹ๆŒ‡ใƒปๆ‰‹้ฆ–ๅฑˆ็ญ‹ใ‚’ไพตใ—ใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ใซใ‚ˆใ‚‹ๅŠนๆžœใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚ไธ€ๆ™‚็š„ใงใ‚ใ‚‹ใ€‚็ญ‹ใธใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใ€็‰นใซ้žๅฃŠๆญป็ทš็ถญใธใฎๆตธๆฝคใŒ็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€‚็ญ‹็ทš็ถญใฎ็ธๅ–ใ‚Š็ฉบ่ƒžใจไฝตใ›ใฆ็ญ‹็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200032" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sporadic inclusion body myositis"@en, "ใตใ†ใซใ‚…ใ†ใŸใ„ใใ‚“ใˆใ‚“"@ja-Hira, "ๅฐๅ…ฅไฝ“็ญ‹็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "sIBM"@en ; + skos:closeMatch obo:MONDO_0007827 ; skos:prefLabel "ๅฐๅ…ฅไฝ“็ญ‹็‚Ž"@ja . -:1200033 - :hasNotificationNumber "16" ; - terms:description "ใ“ใ‚Œใพใงใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ๏ผˆCrowโ€Fukase๏ผ‰็—‡ๅ€™็พคใ€POEMS๏ผˆPolyneuropathy, Organomegaly, Endocrinopathy, M-Protein, and Skin Changes Syndrome๏ผ‰็—‡ๅ€™็พคใ€้ซ˜ๆœˆ็—…ใ€PEP็—‡ๅ€™็พคใชใฉใฎๅ็งฐใงๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏๅ…จใฆๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœฌ้‚ฆใซใŠใ„ใฆใฏใ€ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พคใ€ๆฌง็ฑณใงใฏPOEMS็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚POEMSใจใฏใ€ๅคš็™บๆ€ง็ฅž็ตŒ็‚Žใ€่‡“ๅ™จ่…ซๅคงใ€ๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ€M่›‹็™ฝใ€็šฎ่†š็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’่กจใ—ใฆใ„ใ‚‹ใ€‚1997ๅนดใซใ€ๆœฌ็—‡ๅ€™็พคๆ‚ฃ่€…่ก€ๆธ…ไธญใฎ่ก€็ฎกๅ†…็šฎๅข—ๆฎ–ๅ› ๅญ๏ผˆVEGF๏ผ‰ใŒ็•ฐๅธธ้ซ˜ๅ€คใจใชใฃใฆใ„ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆไปฅๆฅใ€VEGFใŒๅคšๅฝฉใช็—‡็Šถใ‚’ๆƒน่ตทใ—ใฆใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€ๆœฌ็—‡ๅ€™็พคใฏใ€ๅฝข่ณช็ดฐ่ƒžๅ˜ใ‚ฏใƒญใƒผใƒณๆ€งๅข—ๆฎ–ใŒๅŸบ็คŽใซๅญ˜ๅœจใ—ใ€ๅคš็™บใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใ‚’ๅฟ…้ ˆใจใ—ใฆใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ไฝตๅญ˜ใ™ใ‚‹็—‡ๅ€™็พคใจๅฎš็พฉใ—ๅพ—ใ‚‹ใ€‚ใ€€็–ซๅญฆใจใ—ใฆใฏใ€ๆทฑ็€ฌใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆๅคšใใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚็™บ็—‡ใซๅœฐๅŸŸ็‰น็•ฐๆ€งใฏใชใใ€ๅ…จๅ›ฝใซๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ใพใŸใ€็™บ็—‡ใฏ20ๆญณไปฃใ‹ใ‚‰80ๆญณไปฃใจๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ็”ทๅฅณใจใ‚‚ใซ48ๆญณใงใ‚ใ‚Šใ€ๅคš็™บๆ€ง้ชจ้ซ„่…ซใซๆฏ”่ผƒใ—ใฆ็ด„10ๆญณ่‹ฅใ„ใ€‚2004ๅนดใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œๅ…็–ซๆ€ง็ฅž็ตŒ็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใ€ใซใ‚ˆใ‚‹ๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๅ›ฝๅ†…ใซ็ด„340ๅใฎๆ‚ฃ่€…ใŒใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚ŒใŸใ€‚ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏๅฐ‘ใชใใ€ๆ—ฅๆœฌใซใŠใ„ใฆใ‚ˆใ‚Š้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200033" ; - terms:source ; - a owl:Class ; - rdfs:label "Crow-Fukase syndrome"@en, "ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017364 ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ใ“ใ‚Œใพใงใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ๏ผˆCrowโ€Fukase๏ผ‰็—‡ๅ€™็พคใ€POEMS๏ผˆPolyneuropathy, Organomegaly, Endocrinopathy, M-Protein, and Skin Changes Syndrome๏ผ‰็—‡ๅ€™็พคใ€้ซ˜ๆœˆ็—…ใ€PEP็—‡ๅ€™็พคใชใฉใฎๅ็งฐใงๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏๅ…จใฆๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœฌ้‚ฆใซใŠใ„ใฆใฏใ€ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พคใ€ๆฌง็ฑณใงใฏPOEMS็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚POEMSใจใฏใ€ๅคš็™บๆ€ง็ฅž็ตŒ็‚Žใ€่‡“ๅ™จ่…ซๅคงใ€ๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ€M่›‹็™ฝใ€็šฎ่†š็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’่กจใ—ใฆใ„ใ‚‹ใ€‚1997ๅนดใซใ€ๆœฌ็—‡ๅ€™็พคๆ‚ฃ่€…่ก€ๆธ…ไธญใฎ่ก€็ฎกๅ†…็šฎๅข—ๆฎ–ๅ› ๅญ๏ผˆVEGF๏ผ‰ใŒ็•ฐๅธธ้ซ˜ๅ€คใจใชใฃใฆใ„ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆไปฅๆฅใ€VEGFใŒๅคšๅฝฉใช็—‡็Šถใ‚’ๆƒน่ตทใ—ใฆใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€ๆœฌ็—‡ๅ€™็พคใฏใ€ๅฝข่ณช็ดฐ่ƒžๅ˜ใ‚ฏใƒญใƒผใƒณๆ€งๅข—ๆฎ–ใŒๅŸบ็คŽใซๅญ˜ๅœจใ—ใ€ๅคš็™บใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใ‚’ๅฟ…้ ˆใจใ—ใฆใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ไฝตๅญ˜ใ™ใ‚‹็—‡ๅ€™็พคใจๅฎš็พฉใ—ๅพ—ใ‚‹ใ€‚ใ€€็–ซๅญฆใจใ—ใฆใฏใ€ๆทฑ็€ฌใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆๅคšใใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚็™บ็—‡ใซๅœฐๅŸŸ็‰น็•ฐๆ€งใฏใชใใ€ๅ…จๅ›ฝใซๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ใพใŸใ€็™บ็—‡ใฏ20ๆญณไปฃใ‹ใ‚‰80ๆญณไปฃใจๅบƒใๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใ€‚ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ็”ทๅฅณใจใ‚‚ใซ48ๆญณใงใ‚ใ‚Šใ€ๅคš็™บๆ€ง้ชจ้ซ„่…ซใซๆฏ”่ผƒใ—ใฆ็ด„10ๆญณ่‹ฅใ„ใ€‚2004ๅนดใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œๅ…็–ซๆ€ง็ฅž็ตŒ็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใ€ใซใ‚ˆใ‚‹ๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๅ›ฝๅ†…ใซ็ด„340ๅใฎๆ‚ฃ่€…ใŒใ„ใ‚‹ใ“ใจใŒๆŽจๅฎšใ•ใ‚ŒใŸใ€‚ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏๅฐ‘ใชใใ€ๆ—ฅๆœฌใซใŠใ„ใฆใ‚ˆใ‚Š้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200033" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crow-Fukase syndrome"@en, "ใใ‚ใ†ใƒปใตใ‹ใ›ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "POEMS syndrome"@en, "POEMS็—‡ๅ€™็พค"@ja, "Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes syndrome"@en ; + skos:closeMatch obo:MONDO_0017364 ; skos:prefLabel "ใ‚ฏใƒญใ‚ฆใƒปๆทฑ็€ฌ็—‡ๅ€™็พค"@ja . -:1200034 - :hasNotificationNumber "17" ; - terms:description "ๅคš็ณป็ตฑ่Ž็ธฎ็—‡๏ผˆmultiple system atrophy๏ผšMSA๏ผ‰ใฏๆˆๅนดๆœŸ๏ผˆ30ๆญณไปฅ้™ใ€ๅคšใใฏ40ๆญณไปฅ้™๏ผ‰ใซ็™บ็—‡ใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใซไธๆบถๅŒ–ใ—ใŸฮฑใ‚ทใƒŒใ‚ฏใƒฌใ‚คใƒณใŒ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ดฐ่ƒžๅค‰ๆ€ง่„ฑ่ฝใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆ็™บใ‹ใ‚‰็—…ๅˆๆœŸใฎ็—‡ๅ€™ใŒๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ชใƒชใƒผใƒ–ๆฉ‹ๅฐ่„ณ่Ž็ธฎ็—‡๏ผˆolivopontocerebellar atrophy๏ผšOPCA๏ผ‰ใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใงใ‚ใ‚‹ใ‚‚ใฎใฏ็ทšๆกไฝ“้ป’่ณชๅค‰ๆ€ง็—‡ใ€ใใ—ใฆ็‰นใซ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใชใฉ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใฎ้ก•่‘—ใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ทใƒฃใ‚คใƒปใƒ‰ใƒฌใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใจๅ„ใ€…ใฎๅŽŸ่‘—ใซๅพ“ใ„็งฐใ•ใ‚ŒใฆใใŸใ€‚ใ„ใšใ‚Œใ‚‚้€ฒ่กŒใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ไธ‰ๅคง็—‡ๅ€™ใฏ้‡่ค‡ใ—ใฆใใ‚‹ใ“ใจใ€็”ปๅƒ่จบๆ–ญใงใ‚‚่„ณๅนนใจๅฐ่„ณใฎ่Ž็ธฎใ‚„็ทšๆกไฝ“ใฎ็•ฐๅธธ็ญ‰ใฎๆ‰€่ฆ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใ‹ใค็ต„็น”็—…็†ใ‚‚ๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅคš็ณป็ตฑ่Ž็ธฎ็—‡ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚"@ja ; - terms:identifier "1200034" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "ๅคš็ณป็ตฑ่Ž็ธฎ็—‡๏ผˆmultiple system atrophy๏ผšMSA๏ผ‰ใฏๆˆๅนดๆœŸ๏ผˆ30ๆญณไปฅ้™ใ€ๅคšใใฏ40ๆญณไปฅ้™๏ผ‰ใซ็™บ็—‡ใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใซไธๆบถๅŒ–ใ—ใŸฮฑใ‚ทใƒŒใ‚ฏใƒฌใ‚คใƒณใŒ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ดฐ่ƒžๅค‰ๆ€ง่„ฑ่ฝใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆ็™บใ‹ใ‚‰็—…ๅˆๆœŸใฎ็—‡ๅ€™ใŒๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ชใƒชใƒผใƒ–ๆฉ‹ๅฐ่„ณ่Ž็ธฎ็—‡๏ผˆolivopontocerebellar atrophy๏ผšOPCA๏ผ‰ใ€ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใงใ‚ใ‚‹ใ‚‚ใฎใฏ็ทšๆกไฝ“้ป’่ณชๅค‰ๆ€ง็—‡ใ€ใใ—ใฆ็‰นใซ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใชใฉ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใฎ้ก•่‘—ใงใ‚ใ‚‹ใ‚‚ใฎใฏใ‚ทใƒฃใ‚คใƒปใƒ‰ใƒฌใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใจๅ„ใ€…ใฎๅŽŸ่‘—ใซๅพ“ใ„็งฐใ•ใ‚ŒใฆใใŸใ€‚ใ„ใšใ‚Œใ‚‚้€ฒ่กŒใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ไธ‰ๅคง็—‡ๅ€™ใฏ้‡่ค‡ใ—ใฆใใ‚‹ใ“ใจใ€็”ปๅƒ่จบๆ–ญใงใ‚‚่„ณๅนนใจๅฐ่„ณใฎ่Ž็ธฎใ‚„็ทšๆกไฝ“ใฎ็•ฐๅธธ็ญ‰ใฎๆ‰€่ฆ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใ‹ใค็ต„็น”็—…็†ใ‚‚ๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅคš็ณป็ตฑ่Ž็ธฎ็—‡ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200034" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multiple system atrophy"@en, "ๅคš็ณป็ตฑ่Ž็ธฎ็—‡"@ja ; + rdfs:label "Multiple system atrophy"@en, "ใŸใ‘ใ„ใจใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "ๅคš็ณป็ตฑ่Ž็ธฎ็—‡"@ja ; rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007803 ; + rdfs:subClassOf ; + skos:altLabel "MSA"@en ; + skos:closeMatch obo:MONDO_0007803 ; skos:prefLabel "ๅคš็ณป็ตฑ่Ž็ธฎ็—‡"@ja . -:1200035 - :hasNotificationNumber "17" ; - terms:identifier "1200035" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:1200035" ; + dcterms:source ; a owl:Class ; - rdfs:label "MSA-C"@ja, "Multiple system atrophy, cerebellar type"@en ; + rdfs:label "MSA-C"@ja, "Multiple system atrophy, cerebellar type"@en, "ใˆใ‚€ใˆใ™ใˆใƒผใ—ใƒผ"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016418 ; + rdfs:subClassOf ; + skos:altLabel "MSA-C"@en, "Multiple system atrophy, cerebellar variant"@en, "ๅฐ่„ณๅคฑ่ชฟๅ„ชไฝๅž‹"@ja ; + skos:closeMatch obo:MONDO_0016418 ; skos:prefLabel "MSA-C"@ja . -:1200036 - :hasNotificationNumber "17" ; - terms:identifier "1200036" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:1200036" ; + dcterms:source ; a owl:Class ; - rdfs:label "MSA-P"@ja, "Multiple system atrophy,ย parkinsonianย type"@en ; + rdfs:label "MSA-P"@ja, "Multiple system atrophy, Parkinsonian type"@en, "ใˆใ‚€ใˆใ™ใˆใƒผใดใƒผ"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020352 ; + rdfs:subClassOf ; + skos:altLabel "MSA-P"@en, "Multiple system atrophy, parkinsonian variant"@en ; + skos:closeMatch obo:MONDO_0020352 ; skos:prefLabel "MSA-P"@ja . -:1200037 - :hasNotificationNumber "18" ; - terms:description "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆๅคš็ณป็ตฑ้šœๅฎณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅŒใ˜ใใ€็ทฉๆ…ข้€ฒ่กŒๆ€งใฎ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใซใŠใ„ใฆใฏใ€่‡จๅบŠ็š„ใซ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡ๅ€™ใจใ™ใ‚‹็—…ๅž‹๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰ใจใ€ไป–ใฎ็ณป็ตฑ้šœๅฎณใฎ็—‡ๅ€™ใ‚’ไผดใ†็—…ๅž‹๏ผˆ่ค‡ๅˆๅž‹๏ผ‰ใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200037" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚ใ‚‹ใ„ใฏ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใคใ‚‚ใฎ๏ผˆๅคš็ณป็ตฑ้šœๅฎณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡ๅ€™ใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅŒใ˜ใใ€็ทฉๆ…ข้€ฒ่กŒๆ€งใฎ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใซใŠใ„ใฆใฏใ€่‡จๅบŠ็š„ใซ็—™ๆ€งๅฏพ้บป็—บใ‚’ไธป็—‡ๅ€™ใจใ™ใ‚‹็—…ๅž‹๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰ใจใ€ไป–ใฎ็ณป็ตฑ้šœๅฎณใฎ็—‡ๅ€™ใ‚’ไผดใ†็—…ๅž‹๏ผˆ่ค‡ๅˆๅž‹๏ผ‰ใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200037" ; + dcterms:source ; a owl:Class ; - rdfs:label "Spinocerebellar degeneration"@en, "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000437 ; + rdfs:label "Spinocerebellar degeneration"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "SCD"@en ; + skos:closeMatch obo:MONDO_0000437 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja . -:1200038 - :hasNotificationNumber "18" ; - terms:identifier "1200038" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200038" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sporadic Spinocerebellar Degeneration"@en, "ๅญค็™บๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Sporadic spinocerebellar degeneration"@en, "ใ“ใฏใคใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅญค็™บๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๅญค็™บๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja . -:1200039 - :hasNotificationNumber "18" ; - terms:identifier "1200039" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200039" ; + dcterms:source ; a owl:Class ; - rdfs:label "cortical cerebellar atrophy"@en, "็šฎ่ณชๆ€งๅฐ่„ณ่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Cortical cerebellar atrophy"@en, "ใฒใ—ใคใ›ใ„ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "็šฎ่ณชๆ€งๅฐ่„ณ่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CCA"@en ; skos:prefLabel "็šฎ่ณชๆ€งๅฐ่„ณ่Ž็ธฎ็—‡"@ja . -:1200040 - :hasNotificationNumber "18" ; - terms:identifier "1200040" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200040" ; + dcterms:source ; a owl:Class ; - rdfs:label "autosomal dominant spinocerebellarย degeneration"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Autosomal dominant hereditary spinocerebellar degeneration"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja . -:1200041 - :hasNotificationNumber "18" ; - terms:identifier "1200041" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200041" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar ataxia type 3"@en, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "MJD"@en ; - skos:closeMatch mondo:MONDO_0007182 ; + rdfs:label "Spinocerebellar ataxia type 3"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MJD"@en, "Machado-Joseph disease"@en, "SCA3"@en, "ใƒžใƒใƒฃใƒ‰ใƒปใ‚ธใƒงใ‚ปใƒ•็—…"@ja ; + skos:closeMatch obo:MONDO_0007182 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“ๅž‹"@ja . -:1200042 - :hasNotificationNumber "18" ; - terms:identifier "1200042" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200042" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar ataxia type 6"@en, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ–ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "SCA3"@en ; - skos:closeMatch mondo:MONDO_0007182, mondo:MONDO_0008457 ; + rdfs:label "Spinocerebellar ataxia type 6"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†6ใŒใŸ"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ–ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SCA6"@en ; + skos:closeMatch obo:MONDO_0008457 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ–ๅž‹"@ja . -:1200043 - :hasNotificationNumber "18" ; - terms:identifier "1200043" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200043" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dentatorubropallidoluysian atrophy"@en, "ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "DRPLA"@en ; - skos:closeMatch mondo:MONDO_0007435 ; + rdfs:label "Dentatorubropallidoluysian atrophy"@en, "ใ—ใ˜ใ‚‡ใ†ใ‹ใใ›ใใ‹ใใŸใ‚“ใใ†ใใ‚…ใ†ใ‚‹ใ„ใŸใ„ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DRPLA"@en, "Dentatorubral-pallidoluysian atrophy"@en ; + skos:closeMatch obo:MONDO_0007435 ; skos:prefLabel "ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡"@ja . -:1200044 - :hasNotificationNumber "18" ; - terms:identifier "1200044" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200044" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar ataxia type 31"@en, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007296 ; + rdfs:label "Spinocerebellar ataxia type 31"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†31ใŒใŸ"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SCA31"@en ; + skos:closeMatch obo:MONDO_0007296 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ‘ๅž‹"@ja . -:1200045 - :hasNotificationNumber "18" ; - terms:identifier "1200045" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200045" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar ataxia type 1"@en, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008119 ; + rdfs:label "Spinocerebellar ataxia type 1"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SCA1"@en ; + skos:closeMatch obo:MONDO_0008119 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ‘ๅž‹"@ja . -:1200046 - :hasNotificationNumber "18" ; - terms:identifier "1200046" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200046" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar ataxia type 2"@en, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008458 ; + rdfs:label "Spinocerebellar ataxia type 2"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SCA2"@en ; + skos:closeMatch obo:MONDO_0008458 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ’ๅž‹"@ja . -:1200047 - :hasNotificationNumber "18" ; - terms:identifier "1200047" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200047" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar ataxia type 7"@en, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ—ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008120 ; + rdfs:label "Spinocerebellar ataxia type 7"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†7ใŒใŸ"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ—ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SCA7"@en ; + skos:closeMatch obo:MONDO_0008120 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ—ๅž‹"@ja . -:1200048 - :hasNotificationNumber "18" ; - terms:identifier "1200048" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200048" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar ataxia type 36"@en, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ–ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013594 ; + rdfs:label "Spinocerebellar ataxia type 36"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†36ใŒใŸ"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ–ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SCA36"@en ; + skos:closeMatch obo:MONDO_0013594 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅคฑ่ชฟ็—‡๏ผ“๏ผ–ๅž‹"@ja . -:1200049 - :hasNotificationNumber "18" ; - terms:identifier "1200049" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200049" ; + dcterms:source ; a owl:Class ; - rdfs:label "autosomal dominant spinocerebellarย degeneration"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Autosomal recessive hereditary spinocerebellar degeneration"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja . -:1200050 - :hasNotificationNumber "18" ; - terms:identifier "1200050" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200050" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ataxia with isolated vitamin E deficiency"@en, "ใƒ“ใ‚ฟใƒŸใƒณEๅ˜็‹ฌๆฌ ไนๆ€งๅคฑ่ชฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010188 ; + rdfs:label "Ataxia with isolated vitamin E deficiency"@en, "ใณใŸใฟใ‚“ใ„ใƒผใŸใ‚“ใฉใใ‘ใคใผใ†ใ›ใ„ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณEๅ˜็‹ฌๆฌ ไนๆ€งๅคฑ่ชฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AVED"@en ; + skos:closeMatch obo:MONDO_0010188 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณEๅ˜็‹ฌๆฌ ไนๆ€งๅคฑ่ชฟ็—‡"@ja . -:1200051 - :hasNotificationNumber "18" ; - terms:identifier "1200051" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200051" ; + dcterms:source ; a owl:Class ; - rdfs:label "ataxia-oculomotor apraxia Type 1"@en, "ใ‚ขใƒ—ใƒฉใ‚ฟใ‚ญใ‚ทใƒณๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "AOA1"@en, "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia"@en, "็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใƒปไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚’ไผดใ†ๆ—ฉ็™บๅž‹ๅคฑ่ชฟ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0008842 ; + rdfs:label "Ataxia-oculomotor apraxia type 1"@en, "ใ‚ใทใ‚‰ใŸใใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒ—ใƒฉใ‚ฟใ‚ญใ‚ทใƒณๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AOA1"@en, "EAOH"@en, "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia"@en, "ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚’ไผดใ†ๆ—ฉ็™บๅž‹่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja, "็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ‚’ไผดใ†ๅคฑ่ชฟ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008842 ; skos:prefLabel "ใ‚ขใƒ—ใƒฉใ‚ฟใ‚ญใ‚ทใƒณๆฌ ๆ็—‡"@ja . -:1200052 - :hasNotificationNumber "18" ; - terms:identifier "1200052" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200052" ; + dcterms:source ; a owl:Class ; - rdfs:label "hereditary spastic paraplegia"@en, "็—™ๆ€งๅฏพ้บป็—บ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019064 ; + rdfs:label "Hereditary spastic paraplegia"@en, "ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ"@ja-Hira, "็—™ๆ€งๅฏพ้บป็—บ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HSP"@en ; + skos:closeMatch obo:MONDO_0019064 ; skos:prefLabel "็—™ๆ€งๅฏพ้บป็—บ"@ja . -:1200053 - :hasNotificationNumber "18" ; - terms:identifier "1200053" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200053" ; + dcterms:source ; a owl:Class ; - rdfs:label "pure hereditary spastic paraplegia"@en, "็—™ๆ€งๅฏพ้บป็—บ๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015149 ; + rdfs:label "Pure hereditary spastic paraplegia"@en, "ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ๏ผˆใ˜ใ‚…ใ‚“ใ™ใ„ใŒใŸ๏ผ‰"@ja-Hira, "็—™ๆ€งๅฏพ้บป็—บ๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015149 ; skos:prefLabel "็—™ๆ€งๅฏพ้บป็—บ๏ผˆ็ด”็ฒ‹ๅž‹๏ผ‰"@ja . -:1200054 - :hasNotificationNumber "18" ; - terms:identifier "1200054" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:1200054" ; + dcterms:source ; a owl:Class ; - rdfs:label "complex hereditary spastic paraplegia"@en, "็—™ๆ€งๅฏพ้บป็—บ๏ผˆ่ค‡ๅˆๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015150 ; + rdfs:label "Complex hereditary spastic paraplegia"@en, "ใ‘ใ„ใ›ใ„ใคใ„ใพใฒ๏ผˆใตใใ”ใ†ใŒใŸ๏ผ‰"@ja-Hira, "็—™ๆ€งๅฏพ้บป็—บ๏ผˆ่ค‡ๅˆๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015150 ; skos:prefLabel "็—™ๆ€งๅฏพ้บป็—บ๏ผˆ่ค‡ๅˆๅž‹๏ผ‰"@ja . -:1200055 - :hasNotificationNumber "19" ; - terms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€งๅˆ†่งฃ้…ต็ด ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅคง้‡ใฎ่„‚่ณชใ‚ใ‚‹ใ„ใฏใƒ ใ‚ณๅคš็ณ–ใชใฉใ‚’่“„็ฉใ—ใ€่‚่‡“ใƒป่„พ่‡“ใฎ่…ซๅคงใ€้ชจๅค‰ๅฝขใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใชใฉใ€็จฎใ€…ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจ60็จฎใฎ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200055" ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€งๅˆ†่งฃ้…ต็ด ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅคง้‡ใฎ่„‚่ณชใ‚ใ‚‹ใ„ใฏใƒ ใ‚ณๅคš็ณ–ใชใฉใ‚’่“„็ฉใ—ใ€่‚่‡“ใƒป่„พ่‡“ใฎ่…ซๅคงใ€้ชจๅค‰ๅฝขใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใชใฉใ€็จฎใ€…ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจ60็จฎใฎ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200055" ; a owl:Class ; - rdfs:label "Lysosomal Storage Disease"@en, "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002561 ; + rdfs:label "Lysosomal storage disease"@en, "ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ†"@ja-Hira, "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002561 ; skos:prefLabel "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja . -:1200056 - :hasNotificationNumber "19" ; - terms:identifier "1200056" ; - terms:source ; - a owl:Class ; - rdfs:label "Gaucher disease"@en, "Gaucher็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018150 ; - skos:prefLabel "Gaucher็—…"@ja . - -:1200057 - :hasNotificationNumber "19" ; - terms:identifier "1200057" ; - terms:source ; - a owl:Class ; - rdfs:label "Gaucher disease type 1"@en, "Gaucher็—…๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009265 ; - skos:prefLabel "Gaucher็—…๏ผ‘ๅž‹"@ja . - -:1200058 - :hasNotificationNumber "19" ; - terms:identifier "1200058" ; - terms:source ; - a owl:Class ; - rdfs:label "Gaucher disease type 2"@en, "Gaucher็—…๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009266 ; - skos:prefLabel "Gaucher็—…๏ผ’ๅž‹"@ja . - -:1200059 - :hasNotificationNumber "19" ; - terms:identifier "1200059" ; - terms:source ; - a owl:Class ; - rdfs:label "Gaucher disease type 3"@en, "Gaucher็—…๏ผ“ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009267 ; - skos:prefLabel "Gaucher็—…๏ผ“ๅž‹"@ja . - -:1200060 - :hasNotificationNumber "19" ; - terms:identifier "1200060" ; - terms:source ; - a owl:Class ; - rdfs:label "Niemann-Pick disease Type A, B"@en, "Niemann-Pick็—…Aใ€Bๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Niemann-Pick็—…Aใ€Bๅž‹"@ja . - -:1200061 - :hasNotificationNumber "19" ; - terms:identifier "1200061" ; - terms:source ; - a owl:Class ; - rdfs:label "Niemann-Pick disease type A"@en, "Niemann-Pick็—…Aๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Niemann-Pick disease type A/B"@en ; - skos:closeMatch mondo:MONDO_0009756 ; - skos:prefLabel "Niemann-Pick็—…Aๅž‹"@ja . - -:1200062 - :hasNotificationNumber "19" ; - terms:identifier "1200062" ; - terms:source ; - a owl:Class ; - rdfs:label "Niemann-Pick disease type B"@en, "Niemann-Pick็—…Bๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Niemann-Pick disease type A/B"@en ; - skos:closeMatch mondo:MONDO_0011871 ; - skos:prefLabel "Niemann-Pick็—…Bๅž‹"@ja . - -:1200063 - :hasNotificationNumber "19" ; - terms:identifier "1200063" ; - terms:source ; - a owl:Class ; - rdfs:label "Niemann-Pick disease Type C"@en, "Niemann-Pick็—…Cๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009757, mondo:MONDO_0018982 ; - skos:prefLabel "Niemann-Pick็—…Cๅž‹"@ja . - -:1200064 - :hasNotificationNumber "19" ; - terms:identifier "1200064" ; - terms:source ; - a owl:Class ; - rdfs:label "Niemann-Pick็—…Cๅž‹๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200065 - :hasNotificationNumber "19" ; - terms:identifier "1200065" ; - terms:source ; - a owl:Class ; - rdfs:label "Niemann-Pick็—…Cๅž‹๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200066 - :hasNotificationNumber "19" ; - terms:identifier "1200066" ; - terms:source ; - a owl:Class ; - rdfs:label "GM1 Gangliosidosis"@en, "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018149 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200056" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gaucher disease"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Gaucher็—…"@ja ; + skos:closeMatch obo:MONDO_0018150 ; + skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200057" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gaucher disease type 1"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "GD type 1"@en, "Gaucher็—…1ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009265 ; + skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200058" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gaucher disease type 2"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Gaucher็—…2ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009266 ; + skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200059" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gaucher disease type 3"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Gaucher็—…3ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009267 ; + skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200060" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Niemann-Pick disease types A and B"@en, "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใ€ใณใƒผใŒใŸ"@ja-Hira, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aใ€Bๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "NPD type A and B"@en, "Niemann-Pick็—…Aๅž‹ใ€Bๅž‹"@ja ; + skos:prefLabel "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aใ€Bๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200061" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Niemann-Pick disease type A"@en, "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใŒใŸ"@ja-Hira, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Niemann-Pick็—…Aๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009756 ; + skos:prefLabel "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200062" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Niemann-Pick disease type B"@en, "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใณใƒผใŒใŸ"@ja-Hira, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Niemann-Pick็—…Bๅž‹"@ja ; + skos:closeMatch obo:MONDO_0011871 ; + skos:prefLabel "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200063" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Niemann-Pick disease type C"@en, "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ"@ja-Hira, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "NP-C"@en, "Niemann-Pick็—…Cๅž‹"@ja ; + skos:closeMatch obo:MONDO_0018982 ; + skos:prefLabel "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200064" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile-onset Niemann-Pick disease type C"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ"@ja-Hira, "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel " Infantile-onset NPC"@en, "Niemann-Pick็—…Cๅž‹๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; + skos:prefLabel "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200065" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult-onset Niemann-Pick disease type C"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ"@ja-Hira, "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Niemann-Pick็—…Cๅž‹๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0016310 ; + skos:prefLabel "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200066" ; + dcterms:source ; + a owl:Class ; + rdfs:label "GM1 gangliosidosis"@en, "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "ใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Beta-galactosidase-1 deficiency"@en ; + skos:closeMatch obo:MONDO_0018149 ; skos:prefLabel "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200067 - :hasNotificationNumber "19" ; - terms:identifier "1200067" ; - terms:source ; - a owl:Class ; - rdfs:label "GM1 gangliosidosis type 1"@en, "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009260 ; - skos:prefLabel "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200068 - :hasNotificationNumber "19" ; - terms:identifier "1200068" ; - terms:source ; - a owl:Class ; - rdfs:label "GM1 gangliosidosis type 2"@en, "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009261 ; - skos:prefLabel "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja . - -:1200069 - :hasNotificationNumber "19" ; - terms:identifier "1200069" ; - terms:source ; - a owl:Class ; - rdfs:label "GM1 gangliosidosis type 3"@en, "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009262 ; - skos:prefLabel "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰"@ja . - -:1200070 - :hasNotificationNumber "19" ; - terms:identifier "1200070" ; - terms:source ; - a owl:Class ; - rdfs:label "GM2 Gangliosidosis"@en, "GM2ใ‚ฌใƒณใ‚ฐใƒชใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017720 ; - skos:prefLabel "GM2ใ‚ฌใƒณใ‚ฐใƒชใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . - -:1200071 - :hasNotificationNumber "19" ; - terms:identifier "1200071" ; - terms:source ; - a owl:Class ; - rdfs:label "Tay-Sachs็—…"@ja, "Tayโ€“Sachs disease"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "TSD"@en ; - skos:closeMatch mondo:MONDO_0010100 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200067" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile GM1 gangliosidosis"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira, "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Type 1 GM1 gangliosidosis"@en ; + skos:closeMatch obo:MONDO_0009260 ; + skos:prefLabel "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200068" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Juvenile GM1 gangliosidosis"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira, "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Type 2 GM1 gangliosidosis"@en ; + skos:closeMatch obo:MONDO_0009261 ; + skos:prefLabel "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200069" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult GM1 gangliosidosis"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira, "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Type 3 GM1 gangliosidosis"@en ; + skos:closeMatch obo:MONDO_0009262 ; + skos:prefLabel "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200070" ; + dcterms:source ; + a owl:Class ; + rdfs:label "GM2 gangliosidosis"@en, "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "ใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017720 ; + skos:prefLabel "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200071" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tay-Sachs disease"@en, "Tay-Sachs็—…"@ja, "ใฆใ„ใ•ใฃใใ™ใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "TSD"@en, "ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…"@ja ; + skos:closeMatch obo:MONDO_0010100 ; skos:prefLabel "Tay-Sachs็—…"@ja . -:1200072 - :hasNotificationNumber "19" ; - terms:identifier "1200072" ; - terms:source ; - a owl:Class ; - rdfs:label "Sandhoff disease"@en, "Sandhoff็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010006 ; - skos:prefLabel "Sandhoff็—…"@ja . - -:1200073 - :hasNotificationNumber "19" ; - terms:identifier "1200073" ; - terms:source ; - a owl:Class ; - rdfs:label "AB variant"@en, "ABๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "GM2-gangliosidosis,ย AB variant"@en ; - skos:closeMatch mondo:MONDO_0010099 ; - skos:prefLabel "ABๅž‹"@ja . - -:1200074 - :hasNotificationNumber "19" ; - terms:identifier "1200074" ; - terms:source ; - a owl:Class ; - rdfs:label "Krabbe disease"@en, "Krabbe็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009499 ; - skos:prefLabel "Krabbe็—…"@ja . - -:1200075 - :hasNotificationNumber "19" ; - terms:identifier "1200075" ; - terms:source ; - a owl:Class ; - rdfs:label "Infantile Krabbe disease"@en, "Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016089 ; - skos:prefLabel "Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200076 - :hasNotificationNumber "19" ; - terms:identifier "1200076" ; - terms:source ; - a owl:Class ; - rdfs:label "Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja, "Late-infantile/juvenile Krabbe disease"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Krabbe disease, late-onset"@en ; - skos:closeMatch mondo:MONDO_0016090 ; - skos:prefLabel "Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja . - -:1200077 - :hasNotificationNumber "19" ; - terms:identifier "1200077" ; - terms:source ; - a owl:Class ; - rdfs:label "Adult Krabbe disease"@en, "Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016091 ; - skos:prefLabel "Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰"@ja . - -:1200078 - :hasNotificationNumber "19" ; - terms:identifier "1200078" ; - terms:source ; - a owl:Class ; - rdfs:label "Metachromatic leukodystrophy"@en, "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009591, mondo:MONDO_0018868 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200072" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sandhoff disease"@en, "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "SD"@en ; + skos:closeMatch obo:MONDO_0010006 ; + skos:prefLabel "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200073" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "GM2 gangliosidosis AB variant"@en, "ใˆใƒผใณใƒผใŒใŸใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "GM2-gangliosidosis, AB variant"@en ; + skos:closeMatch obo:MONDO_0010099 ; + skos:prefLabel "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200074" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Krabbe disease"@en, "ใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Krabbe็—…"@ja ; + skos:closeMatch obo:MONDO_0009499 ; + skos:prefLabel "ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200075" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile Krabbe disease"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Krabbe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0016089 ; + skos:prefLabel "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200076" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Juvenile Krabbe disease"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Krabbe็—…๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja ; + skos:prefLabel "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200077" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult Krabbe disease"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Krabbe็—…๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0016091 ; + skos:prefLabel "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200078" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Metachromatic leukodystrophy"@en, "ใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MLD"@en ; + skos:closeMatch obo:MONDO_0018868 ; skos:prefLabel "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200079 - :hasNotificationNumber "19" ; - terms:identifier "1200079" ; - terms:source ; - a owl:Class ; - rdfs:label "Metachromatic leukodystrophy, late infantile form"@en, "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅพŒๆœŸไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017729 ; - skos:prefLabel "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅพŒๆœŸไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200080 - :hasNotificationNumber "19" ; - terms:identifier "1200080" ; - terms:source ; - a owl:Class ; - rdfs:label "Metachromatic leukodystrophy, juvenile form"@en, "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009591 ; - skos:prefLabel "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja . - -:1200081 - :hasNotificationNumber "19" ; - terms:identifier "1200081" ; - terms:source ; - a owl:Class ; - rdfs:label "Metachromatic leukodystrophy, adult form"@en, "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017730 ; - skos:prefLabel "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅž‹๏ผ‰"@ja . - -:1200082 - :hasNotificationNumber "19" ; - terms:identifier "1200082" ; - terms:source ; - a owl:Class ; - rdfs:label "Saposin B deficiency"@en, "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009590 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200079" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late infantile metachromatic leukodystrophy"@en, "ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017729 ; + skos:prefLabel "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200080" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Juvenile ๏ฝetachromatic leukodystrophy"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009591 ; + skos:prefLabel "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200081" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult metachromatic leukodystrophy"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017730 ; + skos:prefLabel "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200082" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Saposin B deficiency"@en, "ใ•ใฝใ—ใ‚“ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009590 ; skos:prefLabel "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡"@ja . -:1200083 - :hasNotificationNumber "19" ; - terms:identifier "1200083" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200083" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multiple sulfatase deficiency"@en, "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010088 ; + rdfs:label "Multiple sulfatase deficiency"@en, "ใพใ‚‹ใกใทใ‚‹ใ•ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja, "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010088 ; skos:prefLabel "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200084 - :hasNotificationNumber "19" ; - terms:identifier "1200084" ; - terms:source ; - a owl:Class ; - rdfs:label "neonatal multipleย sulfatase deficiency"@en, "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡(ๆ–ฐ็”Ÿๅ…ๅž‹)"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡(ๆ–ฐ็”Ÿๅ…ๅž‹)"@ja . - -:1200085 - :hasNotificationNumber "19" ; - terms:identifier "1200085" ; - terms:source ; - a owl:Class ; - rdfs:label "Late-infantile multiple sulfatase deficiency"@en, "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผˆไนณๅนผๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผˆไนณๅนผๅ…ๅž‹๏ผ‰"@ja . - -:1200086 - :hasNotificationNumber "19" ; - terms:identifier "1200086" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber disease"@en, "Farber็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009218 ; - skos:prefLabel "Farber็—…"@ja . - -:1200087 - :hasNotificationNumber "19" ; - terms:identifier "1200087" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja, "type 1 FD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja . - -:1200088 - :hasNotificationNumber "19" ; - terms:identifier "1200088" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja, "type 2 FD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja . - -:1200089 - :hasNotificationNumber "19" ; - terms:identifier "1200089" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja, "type 3 FD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja . - -:1200090 - :hasNotificationNumber "19" ; - terms:identifier "1200090" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰"@ja, "type 4 FD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰"@ja . - -:1200091 - :hasNotificationNumber "19" ; - terms:identifier "1200091" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰"@ja, "type 5 FD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰"@ja . - -:1200092 - :hasNotificationNumber "19" ; - terms:identifier "1200092" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰"@ja, "type 6 FD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰"@ja . - -:1200093 - :hasNotificationNumber "19" ; - terms:identifier "1200093" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰"@ja, "type 7 FD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰"@ja . - -:1200094 - :hasNotificationNumber "19" ; - terms:identifier "1200094" ; - terms:source ; - a owl:Class ; - rdfs:label "Hurler syndrome"@en, "Hurler็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 1"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0001586, mondo:MONDO_0011758 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200084" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal multiple sulfatase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200085" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-infantile multiple sulfatase deficiency"@en, "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:prefLabel "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200086" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Farber disease"@en, "ใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "FD"@en, "Farber's lipogranulomatosis"@en, "Farber็—…"@ja ; + skos:closeMatch obo:MONDO_0009218 ; + skos:prefLabel "ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200087" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 1 Farber disease"@en, "ใ“ใฆใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Classic FD"@en, "Farber็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja, "Type 1 FD"@en ; + skos:prefLabel "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200088" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 2 Farber disease"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Farber็—…๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja, "Intermediate FD"@en, "Type 2 FD"@en ; + skos:prefLabel "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200089" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 3 Farber disease"@en, "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Farber็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja, "Mild FD"@en, "Type 3 FD"@en ; + skos:prefLabel "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200090" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 4 Farber disease"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Farber็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰"@ja, "Neonatal-visceral FD"@en, "Type 4 FD"@en ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200091" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 5 Farber disease"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Farber็—…๏ผˆ็ฅž็ตŒ้€ฒ่กŒๅž‹๏ผ‰"@ja, "Neurologic FD"@en, "Neurological Progressive variant"@en, "Type 5 FD"@en ; + skos:prefLabel "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200092" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 6 Farber disease"@en, "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†ใŒใฃใบใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Combined Farber and Sandhoff Disease variant"@en, "Farber็—…๏ผˆใ‚ตใƒณใƒ‰ใƒ›ใƒƒใƒ•็—…ๅˆไฝตๅž‹๏ผ‰"@ja, "Type 6 FD"@en ; + skos:prefLabel "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200093" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 7 Farber disease"@en, "ใตใใƒผใฐใƒผใณใ‚‡ใ†๏ผˆใทใ‚ใ•ใฝใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Farber็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰"@ja, "Prosaposin Deficiency"@en, "Type 7 FD"@en ; + skos:prefLabel "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200094" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hurler syndrome"@en, "Hurler็—‡ๅ€™็พค"@ja, "ใฏใƒผใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IH"@en, "Mucopolysaccharidosis type IH"@en, "ใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค"@ja, "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆHurler็—‡ๅ€™็พค๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0011758 ; skos:prefLabel "Hurler็—‡ๅ€™็พค"@ja . -:1200095 - :hasNotificationNumber "19" ; - terms:identifier "1200095" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200095" ; + dcterms:source ; a owl:Class ; - rdfs:label "Scheie syndrome"@en, "Scheie็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 1"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0001586, mondo:MONDO_0011759, mondo:MONDO_0011760 ; + rdfs:label "Scheie syndrome"@en, "Scheie็—‡ๅ€™็พค"@ja, "ใ—ใ‚ƒใ„ใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IS"@en, "Mucopolysaccharidosis type IS"@en, "ใ‚ทใ‚งใ‚คใ‚จ็—‡ๅ€™็พค"@ja, "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆScheie็—‡ๅ€™็พค๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0011760 ; skos:prefLabel "Scheie็—‡ๅ€™็พค"@ja . -:1200096 - :hasNotificationNumber "19" ; - terms:identifier "1200096" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200096" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hurler-Scheie syndrome"@en, "Hurler๏ผScheie็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 1"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0001586, mondo:MONDO_0011759 ; + rdfs:label "Hurler-Scheie syndrome"@en, "Hurler๏ผScheie็—‡ๅ€™็พค"@ja, "ใฏใƒผใ‚‰ใƒผ/ใ—ใ‚ƒใ„ใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IH/S"@en, "Mucopolysaccharidosis type IH/S"@en, "ใƒใƒผใƒฉใƒผ๏ผใ‚ทใ‚งใ‚คใ‚จ็—‡ๅ€™็พค"@ja, "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹ ๏ผˆHurler๏ผScheie็—‡ๅ€™็พค๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0011759 ; skos:prefLabel "Hurler๏ผScheie็—‡ๅ€™็พค"@ja . -:1200097 - :hasNotificationNumber "19" ; - terms:identifier "1200097" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200097" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hunter syndrome"@en, "Hunter็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010674 ; + rdfs:label "Hunter syndrome"@en, "Hunter็—‡ๅ€™็พค"@ja, "ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS II"@en, "Mucopolysaccharidosis type II"@en, "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค"@ja, "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja ; + skos:closeMatch obo:MONDO_0010674 ; skos:prefLabel "Hunter็—‡ๅ€™็พค"@ja . -:1200098 - :hasNotificationNumber "19" ; - terms:identifier "1200098" ; - terms:source ; - a owl:Class ; - rdfs:label "Hunter syndrome type A"@en, "Hunter็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 2"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0010674, mondo:MONDO_0016315 ; - skos:prefLabel "Hunter็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja . - -:1200099 - :hasNotificationNumber "19" ; - terms:identifier "1200099" ; - terms:source ; - a owl:Class ; - rdfs:label "Hunter syndrome type B"@en, "Hunter็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 2"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0010674, mondo:MONDO_0016316 ; - skos:prefLabel "Hunter็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja . - -:1200100 - :hasNotificationNumber "19" ; - terms:identifier "1200100" ; - terms:source ; - a owl:Class ; - rdfs:label "Sanfilippo syndrome"@en, "Sanfilippo็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018937 ; - skos:prefLabel "Sanfilippo็—‡ๅ€™็พค"@ja . - -:1200101 - :hasNotificationNumber "19" ; - terms:identifier "1200101" ; - terms:source ; - a owl:Class ; - rdfs:label "Sanfilippo syndrome type A"@en, "Sanfilippo็—‡ๅ€™็พคAๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 3"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009655, mondo:MONDO_0018937 ; - skos:prefLabel "Sanfilippo็—‡ๅ€™็พคAๅž‹"@ja . - -:1200102 - :hasNotificationNumber "19" ; - terms:identifier "1200102" ; - terms:source ; - a owl:Class ; - rdfs:label "Sanfilippo syndrome type B"@en, "Sanfilippo็—‡ๅ€™็พคBๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 3"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009656, mondo:MONDO_0018937 ; - skos:prefLabel "Sanfilippo็—‡ๅ€™็พคBๅž‹"@ja . - -:1200103 - :hasNotificationNumber "19" ; - terms:identifier "1200103" ; - terms:source ; - a owl:Class ; - rdfs:label "Sanfilippo syndrome type C"@en, "Sanfilippo็—‡ๅ€™็พคCๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 3"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009657, mondo:MONDO_0018937 ; - skos:prefLabel "Sanfilippo็—‡ๅ€™็พคCๅž‹"@ja . - -:1200104 - :hasNotificationNumber "19" ; - terms:identifier "1200104" ; - terms:source ; - a owl:Class ; - rdfs:label "Sanfilippo syndrome type D"@en, "Sanfilippo็—‡ๅ€™็พคDๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 3"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009658, mondo:MONDO_0018937 ; - skos:prefLabel "Sanfilippo็—‡ๅ€™็พคDๅž‹"@ja . - -:1200105 - :hasNotificationNumber "19" ; - terms:identifier "1200105" ; - terms:source ; - a owl:Class ; - rdfs:label "Morquio disease"@en, "Morquio็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018938 ; - skos:prefLabel "Morquio็—‡ๅ€™็พค"@ja . - -:1200106 - :hasNotificationNumber "19" ; - terms:identifier "1200106" ; - terms:source ; - a owl:Class ; - rdfs:label "Morquio disease type A"@en, "Morquio็—‡ๅ€™็พคAๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 4"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009659, mondo:MONDO_0018938 ; - skos:prefLabel "Morquio็—‡ๅ€™็พคAๅž‹"@ja . - -:1200107 - :hasNotificationNumber "19" ; - terms:identifier "1200107" ; - terms:source ; - a owl:Class ; - rdfs:label "Morquio disease type B"@en, "Morquio็—‡ๅ€™็พคBๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 4"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009660, mondo:MONDO_0018938 ; - skos:prefLabel "Morquio็—‡ๅ€™็พคBๅž‹"@ja . - -:1200108 - :hasNotificationNumber "19" ; - terms:identifier "1200108" ; - terms:source ; - a owl:Class ; - rdfs:label "Maroteaux-Lamy syndrome"@en, "Maroteaux-Lamy็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009661 ; - skos:prefLabel "Maroteaux-Lamy็—‡ๅ€™็พค"@ja . - -:1200109 - :hasNotificationNumber "19" ; - terms:identifier "1200109" ; - terms:source ; - a owl:Class ; - rdfs:label "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja, "Mucopolysaccharidosis type 6, rapidly progressing"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 6"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009661, mondo:MONDO_0017171 ; - skos:prefLabel "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja . - -:1200110 - :hasNotificationNumber "19" ; - terms:identifier "1200110" ; - terms:source ; - a owl:Class ; - rdfs:label "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja, "Mucopolysaccharidosis type 6, slowly progressing"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 6"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009661, mondo:MONDO_0017172 ; - skos:prefLabel "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja . - -:1200111 - :hasNotificationNumber "19" ; - terms:identifier "1200111" ; - terms:source ; - a owl:Class ; - rdfs:label "Sly syndrome"@en, "Sly็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009662 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200098" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hunter syndrome type A"@en, "ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰"@ja-Hira, "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIA"@en, "Mucopolysaccharidosis type II, severe form"@en, "Mucopolysaccharidosis type IIA"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ ๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0016315 ; + skos:prefLabel "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200099" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hunter syndrome type B"@en, "ใฏใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰"@ja-Hira, "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIB"@en, "Mucopolysaccharidosis type II, attenuated form"@en, "Mucopolysaccharidosis type IIB"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0016316 ; + skos:prefLabel "ใƒใƒณใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200100" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sanfilippo disease"@en, "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS III"@en, "Mucopolysaccharidosis type III"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja ; + skos:closeMatch obo:MONDO_0018937 ; + skos:prefLabel "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200101" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sanfilippo disease type A"@en, "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใˆใƒผใŒใŸ"@ja-Hira, "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคAๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIIA"@en, "Mucopolysaccharidosis type IIIA"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Aๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009655 ; + skos:prefLabel "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคAๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200102" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sanfilippo disease type B"@en, "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใณใƒผใŒใŸ"@ja-Hira, "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคBๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIIB"@en, "Mucopolysaccharidosis type IIIB"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Bๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009656 ; + skos:prefLabel "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคBๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200103" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sanfilippo disease type C"@en, "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ—ใƒผใŒใŸ"@ja-Hira, "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคCๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIIC"@en, "Mucopolysaccharidosis type IIIC"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Cๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009657 ; + skos:prefLabel "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคCๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200104" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sanfilippo disease type D"@en, "ใ•ใ‚“ใตใƒใ‚Šใฃใฝใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใงใƒใƒผใŒใŸ"@ja-Hira, "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคDๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIID"@en, "Mucopolysaccharidosis type IIID"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹Dๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009658 ; + skos:prefLabel "ใ‚ตใƒณใƒ•ใ‚ฃใƒชใƒƒใƒ็—‡ๅ€™็พคDๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200105" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Morquio syndrome"@en, "ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IV"@en, "Morquio็—‡ๅ€™็พค"@ja, "Mucopolysaccharidosis type IV"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹"@ja ; + skos:closeMatch obo:MONDO_0018938 ; + skos:prefLabel "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200106" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Morquio syndrome type A"@en, "ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใˆใƒผใŒใŸ"@ja-Hira, "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IVA"@en, "Morquio็—‡ๅ€™็พคAๅž‹"@ja, "Mucopolysaccharidosis type IVA"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Aๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009659 ; + skos:prefLabel "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200107" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Morquio syndrome type B"@en, "ใ‚‚ใ‚‹ใใŠใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใณใƒผใŒใŸ"@ja-Hira, "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS IVB"@en, "Mucopolysaccharidosis type IVB"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Bๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009660 ; + skos:prefLabel "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200108" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Maroteaux-Lamy syndrome"@en, "ใพใ‚ใจใƒผใƒปใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPSVI"@en, "Maroteaux-Lamy disease"@en, "Maroteaux-Lamy็—‡ๅ€™็พค"@ja, "Mucopolysaccharidosis type VI"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009661 ; + skos:prefLabel "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200109" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Maroteaux Lamy syndrome, rapidly progressing form"@en, "ใพใ‚ใจใƒผใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰"@ja-Hira, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS VI"@en, "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja, "Mucopolysaccharidosis type VI"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ ๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0009661 ; + skos:prefLabel "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200110" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Maroteaux Lamy syndrome, slowly progressing form"@en, "ใพใ‚ใจใƒผใ‚‰ใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰"@ja-Hira, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS VI"@en, "Maroteaux-Lamy็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja, "Mucopolysaccharidosis type VI"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0009661 ; + skos:prefLabel "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200111" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sly syndrome"@en, "Sly็—…"@ja, "ใ™ใ‚‰ใ„ใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPS VII"@en, "Sly disease"@en, "mucopolysaccharidosis type VII"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009662 ; skos:prefLabel "Sly็—…"@ja . -:1200112 - :hasNotificationNumber "19" ; - terms:identifier "1200112" ; - terms:source ; - a owl:Class ; - rdfs:label "Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 7"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009662 . - -:1200113 - :hasNotificationNumber "19" ; - terms:identifier "1200113" ; - terms:source ; - a owl:Class ; - rdfs:label "Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 7"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009662 . - -:1200114 - :hasNotificationNumber "19" ; - terms:identifier "1200114" ; - terms:source ; - a owl:Class ; - rdfs:label "Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 7"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0009662 . - -:1200115 - :hasNotificationNumber "19" ; - terms:identifier "1200115" ; - terms:source ; - a owl:Class ; - rdfs:label "Hyaluronidase deficiency"@en, "ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mucopolysaccharidosis type 9"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IXๅž‹ "@ja ; - skos:closeMatch mondo:MONDO_0011093 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200112" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sly syndrome, neonatal form"@en, "Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰"@ja, "ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใ—ใ‚“ใ›ใ„ใ˜ใŒใŸ๏ผ‰"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "neonatal form of MPS-VII"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰"@ja ; + skos:prefLabel "Sly็—…๏ผˆๆ–ฐ็”Ÿๅ…ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200113" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sly syndrome, intermediate form"@en, "Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja, "ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใกใ‚…ใ†ใ‹ใ‚“ใŒใŸ๏ผ‰"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "intermediate form of MPS 7"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja ; + skos:prefLabel "Sly็—…๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200114" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sly syndrome, mild form"@en, "Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja, "ใ™ใ‚‰ใ„ใณใ‚‡ใ†๏ผˆใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸ๏ผ‰"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "mild form of MPS VII"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ ๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + skos:prefLabel "Sly็—…๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200115" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hyaluronidase deficiency"@en, "ใฒใ‚ใ‚‹ใ‚ใซใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Mucopolysaccharidosis Type IX"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IXๅž‹ "@ja ; + skos:closeMatch obo:MONDO_0011093 ; skos:prefLabel "ใƒ’ใ‚ขใƒซใƒญใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200116 - :hasNotificationNumber "19" ; - terms:identifier "1200116" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200116" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sialidosis"@en, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009738, mondo:MONDO_0017734 ; + rdfs:label "Sialidosis"@en, "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017734 ; skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200117 - :hasNotificationNumber "19" ; - terms:identifier "1200117" ; - terms:source ; - a owl:Class ; - rdfs:label "Sialidosis type 1"@en, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ… ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009738, mondo:MONDO_0019346 ; - skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ… ๅž‹๏ผ‰"@ja . - -:1200118 - :hasNotificationNumber "19" ; - terms:identifier "1200118" ; - terms:source ; - a owl:Class ; - rdfs:label "Sialidosis type 2"@en, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ…กๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009738 ; - skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆโ…กๅž‹๏ผ‰"@ja . - -:1200119 - :hasNotificationNumber "19" ; - terms:identifier "1200119" ; - terms:source ; - a owl:Class ; - rdfs:label "Galactosialidosis"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009737 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200117" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sialidosis type 1"@en, "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™1ใŒใŸ"@ja-Hira, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019346 ; + skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200118" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sialidosis type 2"@en, "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™2ใŒใŸ"@ja-Hira, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009738 ; + skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200119" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactosialidosis"@en, "ใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009737 ; skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200120 - :hasNotificationNumber "19" ; - terms:identifier "1200120" ; - terms:source ; - a owl:Class ; - rdfs:label "Early-infantile galactosialidosis"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200121 - :hasNotificationNumber "19" ; - terms:identifier "1200121" ; - terms:source ; - a owl:Class ; - rdfs:label "Late infantile galactosialidosis"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ™ฉๆœŸไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆๆ™ฉๆœŸไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200122 - :hasNotificationNumber "19" ; - terms:identifier "1200122" ; - terms:source ; - a owl:Class ; - rdfs:label "Juvenile/adult galactosialidosis"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅŠใณๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅŠใณๆˆไบบๅž‹๏ผ‰"@ja . - -:1200123 - :hasNotificationNumber "19" ; - terms:identifier "1200123" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucolipidosis Type II,III"@en, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200120" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactosialidosis, early infantile form"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŠใ‚ˆใณใใ†ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Sialidosis type II"@en ; + skos:closeMatch obo:MONDO_0009738 ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200121" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactosialidosis, late infantile form"@en, "ใฐใ‚“ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200122" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactosialidosis, juvenile/adult form"@en, "ใ˜ใ‚ƒใใญใ‚“ใŠใ‚ˆใณใ›ใ„ใ˜ใ‚“ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:prefLabel "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200123" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucolipidosis II, III"@en, "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ,3ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹,IIIๅž‹"@ja . -:1200124 - :hasNotificationNumber "19" ; - terms:identifier "1200124" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200124" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mucolipidosis Type II"@en, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009650 ; + rdfs:label "Mucolipidosis II"@en, "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "I-cell disease"@en, "I-cell็—…"@ja, "ML II"@en ; + skos:closeMatch obo:MONDO_0009650 ; skos:prefLabel "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja . -:1200125 - :hasNotificationNumber "19" ; - terms:identifier "1200125" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200125" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mucolipidosis Type III"@en, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018931 ; + rdfs:label "Mucolipidosis III"@en, "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™3ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ML III"@en ; + skos:closeMatch obo:MONDO_0018931 ; skos:prefLabel "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹"@ja . -:1200126 - :hasNotificationNumber "19" ; - terms:identifier "1200126" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200126" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alpha-mannosidosis"@en, "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009561 ; + rdfs:label "Alpha-mannosidosis"@en, "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "ใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ฮฑ-Mannosidosis"@en ; + skos:closeMatch obo:MONDO_0009561 ; skos:prefLabel "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200127 - :hasNotificationNumber "19" ; - terms:identifier "1200127" ; - terms:source ; - a owl:Class ; - rdfs:label "Alpha-mannosidosis, infantile form"@en, "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017732 ; - skos:prefLabel "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200128 - :hasNotificationNumber "19" ; - terms:identifier "1200128" ; - terms:source ; - a owl:Class ; - rdfs:label "Alpha-mannosidosis, adult form"@en, "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017733 ; - skos:prefLabel "ฮฑ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๆˆไบบๅž‹๏ผ‰"@ja . - -:1200129 - :hasNotificationNumber "19" ; - terms:identifier "1200129" ; - terms:source ; - a owl:Class ; - rdfs:label "Beta-mannosidosis"@en, "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009562 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200127" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alpha-mannosidosis, infantile form"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira, "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "alpha-mannosidosis, type I"@en, "ไนณๅ…ๅž‹๏ผˆtype I๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017732, obo:MONDO_0022424 ; + skos:prefLabel "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200128" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alpha-mannosidosis, adult form"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ˜ใ‚“ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira, "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "่‹ฅๅนดๆˆไบบๅž‹๏ผˆtype II๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017733 ; + skos:prefLabel "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200129" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Beta-mannosidosis"@en, "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "ในใƒผใŸใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "ฮฒ-mannosidosis"@en ; + skos:closeMatch obo:MONDO_0009562 ; skos:prefLabel "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200130 - :hasNotificationNumber "19" ; - terms:identifier "1200130" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200130" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fucosidosis"@en, "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009254 ; + rdfs:label "Fucosidosis"@en, "ใตใ“ใ—ใฉใƒผใ—ใ™"@ja-Hira, "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009254 ; skos:prefLabel "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200131 - :hasNotificationNumber "19" ; - terms:identifier "1200131" ; - terms:source ; - a owl:Class ; - rdfs:label "Fucosidosis type 1"@en, "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200132 - :hasNotificationNumber "19" ; - terms:identifier "1200132" ; - terms:source ; - a owl:Class ; - rdfs:label "Fucosidosis type 2"@en, "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja . - -:1200133 - :hasNotificationNumber "19" ; - terms:identifier "1200133" ; - terms:source ; - a owl:Class ; - rdfs:label "Aspartylglucosaminuria"@en, "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008830 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200131" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fucosidosis, infantile form"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™"@ja-Hira, "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Fucosidosis type I"@en ; + skos:prefLabel "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200132" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fucosidosis, milder form"@en, "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™"@ja-Hira, "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Fucosidosis Type II"@en ; + skos:prefLabel "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200133" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aspartylglucosaminuria"@en, "ใ‚ใ™ใฑใ‚‹ใกใ‚‹ใใ‚‹ใ“ใ•ใฟใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008830 ; skos:prefLabel "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡"@ja . -:1200134 - :hasNotificationNumber "19" ; - terms:identifier "1200134" ; - terms:source ; - a owl:Class ; - rdfs:label "Schindler disease"@en, "Schindler็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017779 ; - skos:prefLabel "Schindler็—…"@ja . - -:1200135 - :hasNotificationNumber "19" ; - terms:identifier "1200135" ; - terms:source ; - a owl:Class ; - rdfs:label "Schindler disease type 1"@en, "Schindler็—…Iๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012221 ; - skos:prefLabel "Schindler็—…Iๅž‹"@ja . - -:1200136 - :hasNotificationNumber "19" ; - terms:identifier "1200136" ; - terms:source ; - a owl:Class ; - rdfs:label "Schindler disease type 2"@en, "Schindler็—…IIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "็ฅžๅดŽ็—…"@ja ; - skos:closeMatch mondo:MONDO_0012222 ; - skos:prefLabel "Schindler็—…IIๅž‹"@ja . - -:1200137 - :hasNotificationNumber "19" ; - terms:identifier "1200137" ; - terms:source ; - a owl:Class ; - rdfs:label "Schindler disease type 3"@en, "Schindler็—…IIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012221, mondo:MONDO_0019264 ; - skos:prefLabel "Schindler็—…IIIๅž‹"@ja . - -:1200138 - :hasNotificationNumber "19" ; - terms:identifier "1200138" ; - terms:source ; - a owl:Class ; - rdfs:label "Pompe disease"@en, "Pompe็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009290 ; - skos:prefLabel "Pompe็—…"@ja . - -:1200139 - :hasNotificationNumber "19" ; - terms:identifier "1200139" ; - terms:source ; - a owl:Class ; - rdfs:label "Classic infantile-onset Pompe disease"@en, "Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200140 - :hasNotificationNumber "19" ; - terms:identifier "1200140" ; - terms:source ; - a owl:Class ; - rdfs:label "Non-classic infantile-onset Pompe disease"@en, "Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰"@ja . - -:1200141 - :hasNotificationNumber "19" ; - terms:identifier "1200141" ; - terms:source ; - a owl:Class ; - rdfs:label "Late-onset Pompe disease"@en, "Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰"@ja . - -:1200142 - :hasNotificationNumber "19" ; - terms:identifier "1200142" ; - terms:source ; - a owl:Class ; - rdfs:label "Lysosomal acid lipase deficiency"@en, "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010204, mondo:MONDO_0019148 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200134" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Schindler disease"@en, "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Alpha-N-acetylgalactosaminidase deficiency"@en, "NAGA deficiency"@en ; + skos:closeMatch obo:MONDO_0017779 ; + skos:prefLabel "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200135" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Schindler disease type I"@en, "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…Iๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Alpha-N-acetylgalactosaminidase deficiency type 1"@en, "NAGA deficiency type 1"@en, "Schindler็—…Iๅž‹"@ja ; + skos:closeMatch obo:MONDO_0012221 ; + skos:prefLabel "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…Iๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200136" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Schindler disease type 2"@en, "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Alpha-N-acetylgalactosaminidase deficiency type 2"@en, "Kanzaki disease"@en, "NAGA deficiency type 2"@en, "Schindler็—…IIๅž‹"@ja, "็ฅžๅดŽ็—…"@ja ; + skos:closeMatch obo:MONDO_0012222 ; + skos:prefLabel "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200137" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Schindler disease type 3"@en, "ใ—ใ‚“ใฉใ‚‰ใƒผใณใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Alpha-N-acetylgalactosaminidase deficiency type 3"@en, "NAGA deficiency type 3"@en, "Schindler็—…IIIๅž‹"@ja ; + skos:closeMatch obo:MONDO_0019264 ; + skos:prefLabel "ใ‚ทใƒณใƒ‰ใƒฉใƒผ็—…IIIๅž‹"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200138" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pompe disease"@en, "ใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Pompe็—…"@ja ; + skos:closeMatch obo:MONDO_0009290 ; + skos:prefLabel "ใƒใƒณใƒš็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200139" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Classic infantile Pompe disease"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Pompe็—…๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017694 ; + skos:prefLabel "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200140" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Childhood-onset Pompe disease"@en, "ใ—ใ‚‡ใ†ใซใŒใŸใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Pompe็—…๏ผˆๅฐๅ…ๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200141" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult-onset Pompe disease"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ๆˆไบบๅž‹ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Pompe็—…๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๆˆไบบๅž‹ใƒใƒณใƒš็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200142" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acid lipase deficiency"@en, "ใ•ใ‚“ใ›ใ„ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Cholesteryl ester storage disease and Wolman disease"@en, "Wolman disease and cholesterol ester storage disease"@en ; + skos:closeMatch obo:MONDO_0019148 ; skos:prefLabel "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200143 - :hasNotificationNumber "19" ; - terms:identifier "1200143" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200143" ; + dcterms:source ; a owl:Class ; - rdfs:label "Wolman disease"@en, "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010204, mondo:MONDO_0019148 ; + rdfs:label "Wolman disease"@en, "ใ†ใ‰ใ‚‹ใพใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Wolman็—…"@ja ; + skos:closeMatch obo:MONDO_0019148 ; skos:prefLabel "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…"@ja . -:1200144 - :hasNotificationNumber "19" ; - terms:identifier "1200144" ; - terms:source ; - a owl:Class ; - rdfs:label "Cholesterol ester storage disease"@en, "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„่†ฟ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019149 ; - skos:prefLabel "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„่†ฟ็—‡"@ja . - -:1200145 - :hasNotificationNumber "19" ; - terms:identifier "1200145" ; - terms:source ; - a owl:Class ; - rdfs:label "Danon disease"@en, "Danon็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010281 ; - skos:prefLabel "Danon็—…"@ja . - -:1200146 - :hasNotificationNumber "19" ; - terms:identifier "1200146" ; - terms:source ; - a owl:Class ; - rdfs:label "Free sialic acid storage disease"@en, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019366 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200144" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cholesterol ester storage disease"@en, "ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใˆใ™ใฆใ‚‹ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CESD"@en ; + skos:closeMatch obo:MONDO_0019149 ; + skos:prefLabel "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200145" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Danon disease"@en, "ใ ใฎใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒ€ใƒŽใƒณ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Danon็—…"@ja ; + skos:closeMatch obo:MONDO_0010281 ; + skos:prefLabel "ใƒ€ใƒŽใƒณ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200146" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Free sialic acid storage disease"@en, "ใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019366 ; skos:prefLabel "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja . -:1200147 - :hasNotificationNumber "19" ; - terms:identifier "1200147" ; - terms:source ; - a owl:Class ; - rdfs:label "Free sialic acid storage disease, infantile form"@en, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ISSD"@en, "infantileย sialicย acid storage disease"@en, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja ; - skos:closeMatch mondo:MONDO_0010027 ; - skos:prefLabel "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200148 - :hasNotificationNumber "19" ; - terms:identifier "1200148" ; - terms:source ; - a owl:Class ; - rdfs:label "intermediate severe Salla disease"@en, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017737 ; - skos:prefLabel "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja . - -:1200149 - :hasNotificationNumber "19" ; - terms:identifier "1200149" ; - terms:source ; - a owl:Class ; - rdfs:label "Salla disaese"@en, "ใ‚ตใƒฉ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200147" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile free sialic acid storage disease"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ISSD"@en, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ้‡็—‡ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0010027 ; + skos:prefLabel "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200148" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intermediate severe Salla disease"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "้‡็—‡Salla็—…"@ja ; + skos:closeMatch obo:MONDO_0017737 ; + skos:prefLabel "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200149" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Salla disease"@en, "ใ•ใ‚‰ใณใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒฉ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "SD"@en, "Salla็—…"@ja, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0011449 ; skos:prefLabel "ใ‚ตใƒฉ็—…"@ja . -:1200150 - :hasNotificationNumber "19" ; - terms:identifier "1200150" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200150" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neuronalย Ceroid Lipofuscinosis"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016295 ; + rdfs:label "Neuronal ceroid-lipofuscinosis"@en, "ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใฎใƒผใ—ใ™"@ja-Hira, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "NCL"@en, "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + skos:closeMatch obo:MONDO_0016295 ; skos:prefLabel "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น"@ja . -:1200151 - :hasNotificationNumber "19" ; - terms:identifier "1200151" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital neuronal ceroid lipofuscinosis"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๅ…ˆๅคฉๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008956 ; - skos:prefLabel "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๅ…ˆๅคฉๅž‹๏ผ‰"@ja . - -:1200152 - :hasNotificationNumber "19" ; - terms:identifier "1200152" ; - terms:source ; - a owl:Class ; - rdfs:label "Infantile neuronal ceroid lipofuscinosis"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009744, mondo:MONDO_0019261 ; - skos:prefLabel "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200153 - :hasNotificationNumber "19" ; - terms:identifier "1200153" ; - terms:source ; - a owl:Class ; - rdfs:label "Late infantile neuronal ceroid lipofuscinosis"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้…็™บไนณๅ…ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008769, mondo:MONDO_0015674 ; - skos:prefLabel "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้…็™บไนณๅ…ๅž‹๏ผ‰"@ja . - -:1200154 - :hasNotificationNumber "19" ; - terms:identifier "1200154" ; - terms:source ; - a owl:Class ; - rdfs:label "Juvenile neuronal ceroid lipofuscinosis"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008767, mondo:MONDO_0019262 ; - skos:prefLabel "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ่‹ฅๅนดๅž‹๏ผ‰"@ja . - -:1200155 - :hasNotificationNumber "19" ; - terms:identifier "1200155" ; - terms:source ; - a owl:Class ; - rdfs:label "Adult neuronal ceroid lipofuscinosis"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019260 ; - skos:prefLabel "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆๆˆไบบๅž‹๏ผ‰"@ja . - -:1200156 - :hasNotificationNumber "19" ; - terms:identifier "1200156" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical neuronal ceroid-lipofuscinosis"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200151" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital neuronal ceroid lipofuscinosis"@en, "ใ›ใ‚“ใฆใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008956 ; + skos:prefLabel "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200152" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile neuronal ceroid lipofuscinosis"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CLN1"@en, "INCL"@en, "Infantile Batten disease"@en ; + skos:closeMatch obo:MONDO_0009744, obo:MONDO_0019261 ; + skos:prefLabel "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200153" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late infantile neuronal ceroid lipofuscinosis"@en, "ใกใฏใคใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CLN2"@en, "Jansky-Bielschowsky disease"@en, "LINCL"@en ; + skos:closeMatch obo:MONDO_0008769, obo:MONDO_0015674 ; + skos:prefLabel "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200154" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Juvenile neuronal ceroid lipofuscinosis"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Batten disease"@en, "Batten็—…"@ja, "JNCL"@en, "NCL3"@en, "Spielmeyer-Vogt-Sjogren disease"@en ; + skos:closeMatch obo:MONDO_0019262 ; + skos:prefLabel "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200155" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult neuronal ceroid lipofuscinosis"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ANCL"@en, "CLN4"@en, "Kufs disease"@en, "Kufs' disease"@en ; + skos:closeMatch obo:MONDO_0019260 ; + skos:prefLabel "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200156" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical neuronal-ceroid lipofuscinosis"@en, "ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใฎใƒผใ—ใ™๏ผˆใฒใฆใ„ใ‘ใ„ใŒใŸ๏ผ‰"@ja-Hira, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น๏ผˆ้žๅฎšๅž‹ๅž‹๏ผ‰"@ja . -:1200157 - :hasNotificationNumber "19" ; - terms:identifier "1200157" ; - terms:source ; - a owl:Class ; - rdfs:label "Fabry disease"@en, "Fabry็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010526 ; - skos:prefLabel "Fabry็—…"@ja . - -:1200158 - :hasNotificationNumber "19" ; - terms:identifier "1200158" ; - terms:source ; - a owl:Class ; - rdfs:label "Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja, "type 1 Fabry disease"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "classic Fabry disease"@en ; - skos:prefLabel "Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja . - -:1200159 - :hasNotificationNumber "19" ; - terms:identifier "1200159" ; - terms:source ; - a owl:Class ; - rdfs:label "Fabry็—…๏ผˆไบœๅž‹๏ผ‰"@ja, "type 2 Fabry disease"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "late onset Fabry disease"@en ; - skos:prefLabel "Fabry็—…๏ผˆไบœๅž‹๏ผ‰"@ja . - -:1200160 - :hasNotificationNumber "19" ; - terms:identifier "1200160" ; - terms:source ; - a owl:Class ; - rdfs:label "Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰"@ja, "heterozygous Fabry disease"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰"@ja . - -:1200161 - :hasNotificationNumber "19" ; - terms:identifier "1200161" ; - terms:source ; - a owl:Class ; - rdfs:label "Cystinosis"@en, "ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016239 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200157" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fabry disease"@en, "ใตใใถใ‚Šใƒผใณใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Fabry็—…"@ja ; + skos:closeMatch obo:MONDO_0010526 ; + skos:prefLabel "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200158" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Classical Fabry disease"@en, "ใ“ใฆใ‚“ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†"@ja-Hira, "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Fabry็—…๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja, "Type 1 Fabry disease"@en, "classic Fabry disease"@en ; + skos:prefLabel "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200159" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Variant Fabry disease"@en, "ใ‚ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†"@ja-Hira, "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Fabry็—…๏ผˆไบœๅž‹๏ผ‰"@ja, "late-onset Fabry disease"@en ; + skos:prefLabel "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200160" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Heterozygous Fabry disease"@en, "ใตใใถใ‚Šใƒผใณใ‚‡ใ†ใ‘ใ‚“ใ›ใ„ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„"@ja-Hira, "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Fabry็—…๏ผˆ้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“๏ผ‰"@ja ; + skos:prefLabel "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200161" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cystinosis"@en, "ใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016239 ; skos:prefLabel "ใ‚ทใ‚นใƒใƒณ็—‡"@ja . -:1200162 - :hasNotificationNumber "19" ; - terms:identifier "1200162" ; - terms:source ; - a owl:Class ; - rdfs:label "Nephropathic infantile cystinosis"@en, "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ่…Žๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018467 ; - skos:prefLabel "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ่…Žๅž‹๏ผ‰"@ja . - -:1200163 - :hasNotificationNumber "19" ; - terms:identifier "1200163" ; - terms:source ; - a owl:Class ; - rdfs:label "Juvenile nephropathic cystinosis"@en, "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009066 ; - skos:prefLabel "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆไธญ้–“ๅž‹๏ผ‰"@ja . - -:1200164 - :hasNotificationNumber "19" ; - terms:identifier "1200164" ; - terms:source ; - a owl:Class ; - rdfs:label "Ocular cystinosis"@en, "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ้ž่…Žๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ็œผๅž‹๏ผ‰"@ja ; - skos:closeMatch mondo:MONDO_0009064 ; - skos:prefLabel "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ้ž่…Žๅž‹๏ผ‰"@ja . - -:1200165 - :hasNotificationNumber "20" ; - terms:description "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅ‰ฏ่…Žไธๅ…จใจไธญๆžข็ฅž็ตŒ็ณปใฎ่„ฑ้ซ„ใ‚’ไธปไฝ“ใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งๅฝขๅผใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ๅคง่„ณๅž‹ใ€ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ใ€ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผˆadrenomyeloneuropathy๏ผšAMN๏ผ‰ใ€ๆˆไบบๅคง่„ณๅž‹ใ€ๅฐ่„ณใƒป่„ณๅนนๅž‹ใ€ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ใ€ๅฅณๆ€ง็™บ็—‡่€…ใชใฉใฎ่‡จๅบŠ็—…ๅž‹ใŒๅญ˜ๅœจใ—ใ€ๅ„ใ€…ใฎ่‡จๅบŠ็ตŒ้Žใ€ไบˆๅพŒใฏ็•ฐใชใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใ ใ‘ใงใชใใ€ใปใจใ‚“ใฉใฎ็ต„็น”ใ‚„่ก€ๆผฟใ€่ตค่ก€็ƒ่†œใ€็™ฝ่ก€็ƒใชใฉใซใŠใ„ใฆๆฅต้•ท้Ž–่„‚่‚ช้…ธใฎๅข—ๅŠ ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200165" ; - terms:source ; - a owl:Class ; - rdfs:label "Adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010247, mondo:MONDO_0018544 ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200162" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nephropathic cystinosis"@en, "ใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Infantile nephropathic cystinosis"@en ; + skos:closeMatch obo:MONDO_0018467, obo:MONDO_0100151 ; + skos:prefLabel "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200163" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intermediate cystinosis"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Juvenile cystinosis"@en, "Juvenile nephropathic cystinosis"@en ; + skos:closeMatch obo:MONDO_0009066 ; + skos:prefLabel "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:1200164" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-nephropathic cystinosis "@en, "ใฒใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ocular cystinosis "@en, "ใ‚ทใ‚นใƒใƒณ็—‡๏ผˆ็œผๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0009064 ; + skos:prefLabel "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:description "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅ‰ฏ่…Žไธๅ…จใจไธญๆžข็ฅž็ตŒ็ณปใฎ่„ฑ้ซ„ใ‚’ไธปไฝ“ใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งๅฝขๅผใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ๅคง่„ณๅž‹ใ€ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ใ€ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผˆadrenomyeloneuropathy๏ผšAMN๏ผ‰ใ€ๆˆไบบๅคง่„ณๅž‹ใ€ๅฐ่„ณใƒป่„ณๅนนๅž‹ใ€ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ใ€ๅฅณๆ€ง็™บ็—‡่€…ใชใฉใฎ่‡จๅบŠ็—…ๅž‹ใŒๅญ˜ๅœจใ—ใ€ๅ„ใ€…ใฎ่‡จๅบŠ็ตŒ้Žใ€ไบˆๅพŒใฏ็•ฐใชใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆใฏใ€ไธญๆžข็ฅž็ตŒ็ณปใ ใ‘ใงใชใใ€ใปใจใ‚“ใฉใฎ็ต„็น”ใ‚„่ก€ๆผฟใ€่ตค่ก€็ƒ่†œใ€็™ฝ่ก€็ƒใชใฉใซใŠใ„ใฆๆฅต้•ท้Ž–่„‚่‚ช้…ธใฎๅข—ๅŠ ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200165" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adrenoleukodystrophy"@en, "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018544 ; skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200166 - :hasNotificationNumber "20" ; - terms:identifier "1200166" ; - terms:source ; - a owl:Class ; - rdfs:label "Childhood X-linked Adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰"@ja . - -:1200167 - :hasNotificationNumber "20" ; - terms:identifier "1200167" ; - terms:source ; - a owl:Class ; - rdfs:label "Adolescent-onset X-linkedย Adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰"@ja . - -:1200168 - :hasNotificationNumber "20" ; - terms:identifier "1200168" ; - terms:source ; - a owl:Class ; - rdfs:label "adrenomyeloneuropathy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "AMN"@ja ; - skos:closeMatch mondo:MONDO_0010247, mondo:MONDO_0015339 ; - skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ๏ผ‰"@ja . - -:1200169 - :hasNotificationNumber "20" ; - terms:identifier "1200169" ; - terms:source ; - a owl:Class ; - rdfs:label "Adult-onset adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰"@ja . - -:1200170 - :hasNotificationNumber "20" ; - terms:identifier "1200170" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical X-linked adult adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰"@ja . - -:1200171 - :hasNotificationNumber "20" ; - terms:identifier "1200171" ; - terms:source ; - a owl:Class ; - rdfs:label "Addison's Disease"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009410, mondo:MONDO_0015129 ; - skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰"@ja . - -:1200172 - :hasNotificationNumber "20" ; - terms:identifier "1200172" ; - terms:source ; - a owl:Class ; - rdfs:label "female adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:1200166" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Childhood cerebral adrenoleukodystrophy"@en, "ใ—ใ‚‡ใ†ใซใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CCALD"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐๅ…ๅคง่„ณๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0010247 ; + skos:prefLabel "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:1200167" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adolescent cerebral adrenoleukodystrophy"@en, "ใ—ใ—ใ‚…ใ‚“ใใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AdolCALD"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:1200168" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adrenomyeloneuropathy"@en, "ใตใใ˜ใ‚“ใ›ใใšใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ"@ja-Hira, "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AMN"@en, "Adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0015339 ; + skos:prefLabel "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:1200169" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult cerebral adrenoleukodystrophy"@en, "ใ›ใ„ใ˜ใ‚“ใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ACALD"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๆˆไบบๅคง่„ณๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:1200170" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical X-linked adult adrenoleukodystrophy"@en, "ใ—ใ‚‡ใ†ใฎใ†ใƒปใฎใ†ใ‹ใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฐ่„ณใƒป่„ณๅนนๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:1200171" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Addison-only adrenoleukodystrophy"@en, "ใ‚ใ˜ใใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใ‚ขใ‚ธใ‚ฝใƒณๅž‹๏ผ‰"@ja ; + skos:prefLabel "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:1200172" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Female adrenoleukodystrophy"@en, "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใ˜ใ‚‡ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ—ใ‚ƒ๏ผ‰"@ja-Hira, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰"@ja . -:1200173 - :hasNotificationNumber "21" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ€่‡จๅบŠ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ—ใฆใ„ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใซๅŠ ใˆใฆใ€ๆดปๆ€ง้…ธ็ด ็”ฃ็”Ÿใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใ€ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณใฎ่ฒฏ่”ตใ€ๆ„ŸๆŸ“้˜ฒๅพกใชใฉใซใ‚‚้–ขใ‚ใฃใฆใ„ใ‚‹ใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใฏใ“ใ‚Œใ‚‰ใฎ็”Ÿ็‰ฉๅญฆ็š„ๆฉŸ่ƒฝใŒๅค‰ๅŒ–ใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็พๅœจใฎใจใ“ใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซใŠใ‘ใ‚‹ๆฉŸ่ƒฝ็•ฐๅธธใฎไธปไฝ“ใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌ้šœๅฎณใซใ‚ˆใ‚‹็—…ๆ…‹ใŒๅŸบๆœฌใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200173" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ€่‡จๅบŠ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ—ใฆใ„ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใซๅŠ ใˆใฆใ€ๆดปๆ€ง้…ธ็ด ็”ฃ็”Ÿใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใ€ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณใฎ่ฒฏ่”ตใ€ๆ„ŸๆŸ“้˜ฒๅพกใชใฉใซใ‚‚้–ขใ‚ใฃใฆใ„ใ‚‹ใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใฏใ“ใ‚Œใ‚‰ใฎ็”Ÿ็‰ฉๅญฆ็š„ๆฉŸ่ƒฝใŒๅค‰ๅŒ–ใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็พๅœจใฎใจใ“ใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซใŠใ‘ใ‚‹ๆฉŸ่ƒฝ็•ฐๅธธใฎไธปไฝ“ใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌ้šœๅฎณใซใ‚ˆใ‚‹็—…ๆ…‹ใŒๅŸบๆœฌใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200173" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mitochondrial Diseases"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004069, mondo:MONDO_0044970 ; + rdfs:label "Mitochondrial diseases"@en, "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†"@ja-Hira, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡"@ja ; + skos:closeMatch obo:MONDO_0004069, obo:MONDO_0044970 ; skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja . -:1200174 - :hasNotificationNumber "21" ; - terms:identifier "1200174" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200174" ; + dcterms:source ; a owl:Class ; - rdfs:label "chronic progressive external ophthalmoplegia"@en, "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005181 ; + rdfs:label "Chronic progressive external ophthalmoplegia"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใ›ใ„ใŒใ„ใŒใ‚“ใใ‚“ใพใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CPEO"@en ; + skos:closeMatch obo:MONDO_0005181 ; skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๅค–็œผ็ญ‹้บป็—บ็—‡ๅ€™็พค"@ja . -:1200175 - :hasNotificationNumber "21" ; - terms:identifier "1200175" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200175" ; + dcterms:source ; a owl:Class ; - rdfs:label "Leigh syndrome"@en, "ใƒชใƒผ่„ณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009723 ; + rdfs:label "Leigh's encephalomyelopathy"@en, "ใ‚Šใƒผใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒผ่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Leigh encephalomyelopathy"@en ; + skos:closeMatch obo:MONDO_0009723 ; skos:prefLabel "ใƒชใƒผ่„ณ็—‡"@ja . -:1200176 - :hasNotificationNumber "21" ; - terms:identifier "1200176" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200176" ; + dcterms:source ; a owl:Class ; - rdfs:label "MELAS"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010789 ; + rdfs:label "Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome"@en, "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใฎใ†ใใ‚“ใ—ใ‚‡ใ†ใƒปใซใ‚…ใ†ใ•ใ‚“ใ‚ใ—ใฉใƒผใ—ใ™ใƒปใฎใ†ใใฃใกใ‚…ใ†ใ‚ˆใ†ใปใฃใ•ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MELAS"@en, "MELAS"@ja, "MELAS syndrome"@en ; + skos:closeMatch obo:MONDO_0010789 ; skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค"@ja . -:1200177 - :hasNotificationNumber "21" ; - terms:identifier "1200177" ; - terms:source ; - a owl:Class ; - rdfs:label "MERRF"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็•ฐๅธธใ‚’ไผดใ†ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010790 ; - skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็•ฐๅธธใ‚’ไผดใ†ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja . - -:1200178 - :hasNotificationNumber "21" ; - terms:identifier "1200178" ; - terms:source ; - a owl:Class ; - rdfs:label "Leber hereditary optic neuropathy"@en, "ใƒฌใƒผใƒใƒผ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010788 ; - skos:prefLabel "ใƒฌใƒผใƒใƒผ็—…"@ja . - -:1200179 - :hasNotificationNumber "21" ; - terms:identifier "1200179" ; - terms:source ; - a owl:Class ; - rdfs:label "็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200180 - :hasNotificationNumber "21" ; - terms:identifier "1200180" ; - terms:source ; - a owl:Class ; - rdfs:label "Mitochondrial complex I deficiency"@en, "่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009640 ; - skos:prefLabel "่ค‡ๅˆไฝ“โ… ๆฌ ๆ็—‡"@ja . - -:1200181 - :hasNotificationNumber "21" ; - terms:identifier "1200181" ; - terms:source ; - a owl:Class ; - rdfs:label "Mitochondrial complex II deficiency"@en, "่ค‡ๅˆไฝ“โ…กๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009641 ; - skos:prefLabel "่ค‡ๅˆไฝ“โ…กๆฌ ๆ็—‡"@ja . - -:1200182 - :hasNotificationNumber "21" ; - terms:identifier "1200182" ; - terms:source ; - a owl:Class ; - rdfs:label "ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200183 - :hasNotificationNumber "22" ; - terms:description "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡๏ผ‰ใฏใ€ๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€่„ณ่ก€็ฎกๆ’ฎๅฝฑๆคœๆŸปใงไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’10๏ฝž20๏ผ…ใซ่ชใ‚ใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš2.5ใงๆœ‰็—…็Ž‡ใฏๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏ10ไธ‡ไบบใซๅฏพใ—ใฆ๏ผ“๏ฝž10.5ไบบใจใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—๏ผ•๏ฝž10ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200183" ; - terms:source ; - a owl:Class ; - rdfs:label "Moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009649, mondo:MONDO_0016820, mondo:MONDO_0018792 ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200177" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Myoclonus epilepsy associated with ragged-red fibers"@en, "ใ›ใใ—ใ‚‡ใใผใ‚ใ›ใ‚“ใ„ใƒปใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "MERRF"@en, "MERRF"@ja ; + skos:closeMatch obo:MONDO_0010790 ; + skos:prefLabel "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200178" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Leber hereditary optic neuropathy"@en, "ใ‚Œใƒผในใ‚‹ใ„ใงใ‚“ใ›ใ„ใ—ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "LHON"@en, "ใƒฌใƒผใƒใƒผ็—…"@ja ; + skos:closeMatch obo:MONDO_0010788 ; + skos:prefLabel "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200179" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mitochondrial diseases with proven biochemical abnormality"@en, "ใ›ใ„ใ‹ใŒใใฆใใ„ใ˜ใ‚‡ใ†ใŒใ‚ใใ‚‰ใ‹ใซใชใฃใŸใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†"@ja-Hira, "็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "็”ŸๅŒ–ๅญฆ็š„็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200180" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mitochondrial complex I deficiency"@en, "ใตใใ”ใ†ใŸใ„1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่ค‡ๅˆไฝ“Iๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0100133, obo:MONDO_0100224 ; + skos:prefLabel "่ค‡ๅˆไฝ“Iๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200181" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mitochondrial complex II deficiency"@en, "ใตใใ”ใ†ใŸใ„2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่ค‡ๅˆไฝ“IIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009641 ; + skos:prefLabel "่ค‡ๅˆไฝ“IIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1200182" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hyperlacticacidemia with no identified etiology"@en, "ใ’ใ‚“ใ„ใ‚“ใตใ‚ใ„ใชใ“ใ†ใซใ‚…ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hyperlacticacidaemia with no identified etiology"@en ; + skos:prefLabel "ๅŽŸๅ› ไธๆ˜Žใช้ซ˜ไนณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "22" ; + dcterms:description "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡๏ผ‰ใฏใ€ๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€่„ณ่ก€็ฎกๆ’ฎๅฝฑๆคœๆŸปใงไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’10๏ฝž20๏ผ…ใซ่ชใ‚ใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš2.5ใงๆœ‰็—…็Ž‡ใฏๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏ10ไธ‡ไบบใซๅฏพใ—ใฆ๏ผ“๏ฝž10.5ไบบใจใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—๏ผ•๏ฝž10ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200183" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†"@ja-Hira, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡"@ja ; + skos:closeMatch obo:MONDO_0016820 ; skos:prefLabel "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja . -:1200184 - :hasNotificationNumber "22" ; - terms:identifier "1200184" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:1200184" ; + dcterms:source ; a owl:Class ; - rdfs:label "bilateral moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Bilateral moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†๏ผˆใ‚Šใ‚‡ใ†ใŒใ‚ใŒใŸ๏ผ‰"@ja-Hira, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆไธกๅดๅž‹๏ผ‰"@ja . -:1200185 - :hasNotificationNumber "22" ; - terms:identifier "1200185" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:1200185" ; + dcterms:source ; a owl:Class ; - rdfs:label "unilateral moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Unilateral moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†๏ผˆใ‹ใŸใŒใ‚ใŒใŸ๏ผ‰"@ja-Hira, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…๏ผˆ็‰‡ๅดๅž‹๏ผ‰"@ja . -:1200186 - :hasNotificationNumber "23" ; - terms:description "ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ๆญฃๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใŒไฝ•ใ‚‰ใ‹ใฎ็†็”ฑใงไผๆ’ญๆ€งใ‚’ๆœ‰ใ™ใ‚‹็•ฐๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใซๅค‰ๅŒ–ใ—ใ€ไธปใซไธญๆžข็ฅž็ตŒๅ†…ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆ€ฅ้€Ÿใซ็ฅž็ตŒ็ดฐ่ƒžๅค‰ๆ€งใ‚’่ตทใ“ใ™ใพใ‚Œใช่‡ดๆญปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฎไปฃ่กจ็š„ใชใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…๏ผˆCreutzfeldt-Jakob disease๏ผšCJD๏ผ‰ใฏใ€๏ผ‘ๅนด้–“ใซ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎๅ‰ฒๅˆใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ’ใƒˆใฎใƒ—ใƒชใ‚ชใƒณ็—…ใฏ็—…ๅ› ใซใ‚ˆใ‚Šใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆๅญค็™บๆ€งCJD๏ผˆsporadic CJD๏ผšsCJD๏ผ‰๏ผ‰ใ€ใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹้บไผๆ€ง๏ผˆๅฎถๆ—ๆ€งCJDใ€ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…๏ผˆGerstman-Strรคussler-Scheinker๏ผšGSS๏ผ‰ใ€่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡๏ผˆfatal familial insomnia๏ผšFFI๏ผ‰๏ผ‰ใ€ไป–ใ‹ใ‚‰ใฎใƒ—ใƒชใ‚ชใƒณๆ„ŸๆŸ“ใซใ‚ˆใ‚‹็ฒๅพ—ๆ€ง๏ผˆenvironmentally acquired๏ผ‰๏ผˆใ‚ฏใƒผใƒซใƒผใ€ๅŒปๅŽŸๆ€งใ€ๅค‰็•ฐๅž‹๏ผˆvariant Creutzfeldt-Jakob disease๏ผšvCJD๏ผ‰๏ผ‰ใฎ๏ผ“็จฎ้กžใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ไบบ็ฃๅ…ฑ้€šๆ„ŸๆŸ“็—‡ใงใ‚ใ‚Šใ€ใƒ’ใƒˆไปฅๅค–ใงใฏใ€็‰›ใฎ็‰›ๆตท็ถฟ็Šถ่„ณ็—‡๏ผˆBSE๏ผ‰ใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200186" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ๆญฃๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใŒไฝ•ใ‚‰ใ‹ใฎ็†็”ฑใงไผๆ’ญๆ€งใ‚’ๆœ‰ใ™ใ‚‹็•ฐๅธธใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝใซๅค‰ๅŒ–ใ—ใ€ไธปใซไธญๆžข็ฅž็ตŒๅ†…ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆ€ฅ้€Ÿใซ็ฅž็ตŒ็ดฐ่ƒžๅค‰ๆ€งใ‚’่ตทใ“ใ™ใพใ‚Œใช่‡ดๆญปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฎไปฃ่กจ็š„ใชใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…๏ผˆCreutzfeldt-Jakob disease๏ผšCJD๏ผ‰ใฏใ€๏ผ‘ๅนด้–“ใซ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎๅ‰ฒๅˆใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ’ใƒˆใฎใƒ—ใƒชใ‚ชใƒณ็—…ใฏ็—…ๅ› ใซใ‚ˆใ‚Šใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆๅญค็™บๆ€งCJD๏ผˆsporadic CJD๏ผšsCJD๏ผ‰๏ผ‰ใ€ใƒ—ใƒชใ‚ชใƒณ่›‹็™ฝ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹้บไผๆ€ง๏ผˆๅฎถๆ—ๆ€งCJDใ€ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…๏ผˆGerstman-Strรคussler-Scheinker๏ผšGSS๏ผ‰ใ€่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡๏ผˆfatal familial insomnia๏ผšFFI๏ผ‰๏ผ‰ใ€ไป–ใ‹ใ‚‰ใฎใƒ—ใƒชใ‚ชใƒณๆ„ŸๆŸ“ใซใ‚ˆใ‚‹็ฒๅพ—ๆ€ง๏ผˆenvironmentally acquired๏ผ‰๏ผˆใ‚ฏใƒผใƒซใƒผใ€ๅŒปๅŽŸๆ€งใ€ๅค‰็•ฐๅž‹๏ผˆvariant Creutzfeldt-Jakob disease๏ผšvCJD๏ผ‰๏ผ‰ใฎ๏ผ“็จฎ้กžใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใƒ—ใƒชใ‚ชใƒณ็—…ใฏใ€ไบบ็ฃๅ…ฑ้€šๆ„ŸๆŸ“็—‡ใงใ‚ใ‚Šใ€ใƒ’ใƒˆไปฅๅค–ใงใฏใ€็‰›ใฎ็‰›ๆตท็ถฟ็Šถ่„ณ็—‡๏ผˆBSE๏ผ‰ใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200186" ; + dcterms:source ; a owl:Class ; - rdfs:label "Prion disease"@en, "ใƒ—ใƒชใ‚ชใƒณ็—…"@ja ; + rdfs:label "Prion disease"@en, "ใทใ‚ŠใŠใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒชใ‚ชใƒณ็—…"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005429 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005429 ; skos:prefLabel "ใƒ—ใƒชใ‚ชใƒณ็—…"@ja . -:1200187 - :hasNotificationNumber "23" ; - terms:identifier "1200187" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200187" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sporadic Creutzfeldt-Jakob disease"@en, "ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "sCJD"@en ; - skos:closeMatch mondo:MONDO_0016079 ; + rdfs:label "Sporadic Creutzfeldt-Jakob disease"@en, "ใ“ใฏใคใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†"@ja-Hira, "ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "sCJD"@en, "็‰น็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; + skos:closeMatch obo:MONDO_0016079 ; skos:prefLabel "ๅญค็™บๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja . -:1200188 - :hasNotificationNumber "23" ; - terms:identifier "1200188" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200188" ; + dcterms:source ; a owl:Class ; - rdfs:label "Genetic Prion Diseases"@en, "้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Genetic prion diseases"@en, "ใ„ใงใ‚“ใ›ใ„ใทใ‚ŠใŠใ‚“ใณใ‚‡ใ†"@ja-Hira, "้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017234 ; skos:prefLabel "้บไผๆ€งใƒ—ใƒชใ‚ชใƒณ็—…"@ja . -:1200189 - :hasNotificationNumber "23" ; - terms:identifier "1200189" ; - terms:source ; - a owl:Class ; - rdfs:label "Familial Creutzfeldt-Jakob Disease"@en, "ๅฎถๆ—ๆ€งCJD"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ๅฎถๆ—ๆ€งCJD"@ja . - -:1200190 - :hasNotificationNumber "23" ; - terms:identifier "1200190" ; - terms:source ; - a owl:Class ; - rdfs:label "Gerstmann-Straussler-Scheinker syndrome"@en, "ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200189" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial Creutzfeldt-Jakob disease"@en, "ใ‹ใžใใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅฎถๆ—ๆ€งCJD"@ja ; + skos:closeMatch obo:MONDO_0007403 ; + skos:prefLabel "ๅฎถๆ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja . + + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200190" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gerstmann-Straussler-Scheinker syndrome"@en, "ใ’ใ‚‹ใ™ใจใพใ‚“ใƒปใ™ใจใ‚ใ„ใ™ใ‚‰ใƒผใƒปใ—ใ‚ƒใ„ใ‚“ใ‹ใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "GSS"@en ; - skos:closeMatch mondo:MONDO_0007656 ; + skos:closeMatch obo:MONDO_0007656 ; skos:prefLabel "ใ‚ฒใƒซใ‚นใƒˆใƒžใƒณใƒปใ‚นใƒˆใƒญใ‚คใ‚นใƒฉใƒผใƒปใ‚ทใƒฃใ‚คใƒณใ‚ซใƒผ็—…"@ja . -:1200191 - :hasNotificationNumber "23" ; - terms:identifier "1200191" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200191" ; + dcterms:source ; a owl:Class ; - rdfs:label "fatal familial insomnia"@en, "่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Fatal familial insomnia"@en, "ใกใ—ใ›ใ„ใ‹ใžใใ›ใ„ใตใฟใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "FFI"@en ; - skos:closeMatch mondo:MONDO_0010808 ; + skos:closeMatch obo:MONDO_0010808 ; skos:prefLabel "่‡ดๆญปๆ€งๅฎถๆ—ๆ€งไธ็œ ็—‡"@ja . -:1200192 - :hasNotificationNumber "23" ; - terms:identifier "1200192" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200192" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acquired Creutzfeldt-Jakob disease"@en, "็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018686 ; + rdfs:label "Environmentally acquired Creutzfeldt-Jakob disease"@en, "ใ‹ใใจใใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†"@ja-Hira, "็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018686 ; skos:prefLabel "็ฒๅพ—ๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja . -:1200193 - :hasNotificationNumber "23" ; - terms:identifier "1200193" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200193" ; + dcterms:source ; a owl:Class ; - rdfs:label "Iatrogenic Creutzfeldt-Jakob disease"@en, "ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Iatrogenic Creutzfeldt-Jakob disease"@en, "ใ„ใ’ใ‚“ใ›ใ„ใใ‚ใ„ใคใตใ‡ใ‚‹ใจใƒปใ‚„ใ“ใถใณใ‚‡ใ†"@ja-Hira, "ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Iatrogenic CJD"@en ; + skos:closeMatch obo:MONDO_0034976 ; skos:prefLabel "ๅŒปๅŽŸๆ€งใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒปใƒคใ‚ณใƒ–็—…"@ja . -:1200194 - :hasNotificationNumber "23" ; - terms:identifier "1200194" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:1200194" ; + dcterms:source ; a owl:Class ; - rdfs:label "variant Creutzfeldt-Jakob disease"@en, "ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Variant Creutzfeldt-Jakob disease"@en, "ใธใ‚“ใ„ใŒใŸใใ‚ใ„ใคใตใ‡ใ‚‹ใจใ‚„ใ“ใถใณใ‚‡ใ†"@ja-Hira, "ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "vCJD"@en ; - skos:closeMatch mondo:MONDO_0007012 ; + skos:closeMatch obo:MONDO_0007012 ; skos:prefLabel "ๅค‰็•ฐๅž‹ใ‚ฏใƒญใ‚คใƒ„ใƒ•ใ‚งใƒซใƒˆใƒคใ‚ณใƒ–็—…"@ja . -:1200195 - :hasNotificationNumber "24" ; - terms:description "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitis๏ผšSSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ใƒ’ใƒˆใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆprogressive multifocal leukoencephalopathy๏ผšPML๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200195" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitis๏ผšSSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ใƒ’ใƒˆใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆprogressive multifocal leukoencephalopathy๏ผšPML๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200195" ; + dcterms:source ; a owl:Class ; - rdfs:label "Subacute sclerosing panencephalitis"@en, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009835 ; + rdfs:label "Subacute sclerosing panencephalitis"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "SSPE"@en ; + skos:closeMatch obo:MONDO_0009835 ; skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja . -:1200196 - :hasNotificationNumber "24" ; - terms:identifier "1200196" ; - terms:source ; - a owl:Class ; - rdfs:label "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200197 - :hasNotificationNumber "24" ; - terms:identifier "1200197" ; - terms:source ; - a owl:Class ; - rdfs:label "ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200198 - :hasNotificationNumber "24" ; - terms:identifier "1200198" ; - terms:source ; - a owl:Class ; - rdfs:label "ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200199 - :hasNotificationNumber "24" ; - terms:identifier "1200199" ; - terms:source ; - a owl:Class ; - rdfs:label "็ทฉๅพ้€ฒ่กŒๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200200 - :hasNotificationNumber "24" ; - terms:identifier "1200200" ; - terms:source ; - a owl:Class ; - rdfs:label "ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200201 - :hasNotificationNumber "24" ; - terms:identifier "1200201" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical subacute sclerosing panencephalitis"@en, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200196" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Typical subacute sclerosing panencephalitis"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใฆใ‚“ใ‘ใ„๏ผ‰"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009835 ; + skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆๅ…ธๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200197" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Rapidly progressive subacute sclerosing panencephalitis"@en, "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ€ฅ้€Ÿ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja . + + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200198" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Subacute progressive sclerosing panencephalitis"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009835 ; + skos:prefLabel "ไบœๆ€ฅๆ€ง้€ฒ่กŒๅž‹็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja . + + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200199" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Slowly progressive subacute sclerosing panencephalitis"@en, "ใ‹ใ‚“ใ˜ใ‚‡ใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "็ทฉๅพ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "็ทฉๅพ้€ฒ่กŒๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja . + + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200200" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic relapsing-remitting subacute sclerosing panencephalitis"@en, "ใพใ‚“ใ›ใ„ใ•ใ„ใฏใค-ใ‹ใ‚“ใ‹ใ„ใŒใŸใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€งๅ†็™บโˆ’ๅฏ›่งฃๅž‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja . + + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200201" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical subacute sclerosing panencephalitis"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใฒใฆใ‚“ใ‘ใ„๏ผ‰"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ้žๅ…ธๅž‹๏ผ‰"@ja . -:1200202 - :hasNotificationNumber "24" ; - terms:identifier "1200202" ; - terms:source ; - a owl:Class ; - rdfs:label "็—‡็Šถใ‹ใ‚™็—™ๆ”ฃใฎใฟใฎไพ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200203 - :hasNotificationNumber "24" ; - terms:identifier "1200203" ; - terms:source ; - a owl:Class ; - rdfs:label "Jabbour ๅˆ†้กžใฎ I ๆœŸใ‹ใ‚™ ้ทๅปถใ™ใ‚‹ไพ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200204 - :hasNotificationNumber "24" ; - terms:identifier "1200204" ; - terms:source ; - a owl:Class ; - rdfs:label "ไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200205 - :hasNotificationNumber "25" ; - terms:description "ๅคšใใฎไบบใซๆฝœไผๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹JCใ‚ฆใ‚คใƒซใ‚นใŒใ€ๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ—ใŸ็Šถๆณใงๅ†ๆดปๆ€งๅŒ–ใ—ใฆ่„ณๅ†…ใซๅคš็™บๆ€งใฎ่„ฑ้ซ„็—…ๅทฃใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆใงใฎ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆProgressive Multifocal Leukoencephalopathy๏ผšPML๏ผ‰ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใฏใ€HIVๆ„ŸๆŸ“็—‡ใ‚„่ก€ๆถฒ็ณปๆ‚ชๆ€ง่…ซ็˜ใŒๅคšใใ€่† ๅŽŸ็—…๏ผ็ตๅˆ็น”็—…ใชใฉใŒ็ถšใใ€‚ๆฌง็ฑณใงใฏPMLใฎๅŸบ็คŽ็–พๆ‚ฃใฎๅคšใใ‚’HIVๆ„ŸๆŸ“็—‡ใŒๅ ใ‚ใ‚‹ใŒ๏ผˆ็ด„85๏ผ…๏ผ‰ใ€ๆœฌ้‚ฆใงใฏใใฎๅŸบ็คŽ็–พๆ‚ฃใฏๆฏ”่ผƒ็š„ๅคšๅฒใซใ‚ใŸใ‚‹็ตๆžœใงใ‚ใ‚‹ใ€‚JCใ‚ฆใ‚คใƒซใ‚นใฎๅˆๆ„ŸๆŸ“ใฏๅนผใƒปๅฐๅ…ๆœŸใซ่ตทใ“ใ‚Šใ€ๆˆไบบใฎๆŠ—ไฝ“ไฟๆœ‰็Ž‡ใฏๅ…จไบบๅฃใฎ80๏ผ…็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200205" ; - terms:source ; - a owl:Class ; - rdfs:label "Progressive multifocal leukoencephalopathy"@en, "้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016318 ; + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200202" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Subacute sclerosing panencephalitis presenting only with convulsion"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใ—ใ‚‡ใ†ใ˜ใ‚‡ใ†ใŒใ‘ใ„ใ‚Œใ‚“ใฎใฟใฎใ‚Œใ„๏ผ‰"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ็—‡็ŠถใŒ็—™ๆ”ฃใฎใฟใฎไพ‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆ็—‡็ŠถใŒ็—™ๆ”ฃใฎใฟใฎไพ‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200203" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Subacute sclerosing panencephalitis with prolonged Jabbour's clinical stage I"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใ˜ใ‚ƒใฐใƒผใถใ‚“ใ‚‹ใ„ใฎ1ใใŒใ›ใ‚“ใˆใ‚“ใ™ใ‚‹ใ‚Œใ„๏ผ‰"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆJabbourๅˆ†้กžใฎ I ๆœŸใŒ้ทๅปถใ™ใ‚‹ไพ‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆJabbourๅˆ†้กžใฎ I ๆœŸใŒ้ทๅปถใ™ใ‚‹ไพ‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "24" ; + dcterms:identifier "NANDO:1200204" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Subacute sclerosing panencephalitis in infants or adults"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“๏ผˆใซใ‚…ใ†ใ˜ใ‚ใ‚‹ใ„ใฏใ›ใ„ใ˜ใ‚“ใ‚Œใ„๏ผ‰"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆไนณๅ…ใ‚ใ‚‹ใ„ใฏๆˆไบบไพ‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "25" ; + dcterms:description "ๅคšใใฎไบบใซๆฝœไผๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹JCใ‚ฆใ‚คใƒซใ‚นใŒใ€ๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ—ใŸ็Šถๆณใงๅ†ๆดปๆ€งๅŒ–ใ—ใฆ่„ณๅ†…ใซๅคš็™บๆ€งใฎ่„ฑ้ซ„็—…ๅทฃใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆใงใฎ้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆProgressive Multifocal Leukoencephalopathy๏ผšPML๏ผ‰ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใฏใ€HIVๆ„ŸๆŸ“็—‡ใ‚„่ก€ๆถฒ็ณปๆ‚ชๆ€ง่…ซ็˜ใŒๅคšใใ€่† ๅŽŸ็—…๏ผ็ตๅˆ็น”็—…ใชใฉใŒ็ถšใใ€‚ๆฌง็ฑณใงใฏPMLใฎๅŸบ็คŽ็–พๆ‚ฃใฎๅคšใใ‚’HIVๆ„ŸๆŸ“็—‡ใŒๅ ใ‚ใ‚‹ใŒ๏ผˆ็ด„85๏ผ…๏ผ‰ใ€ๆœฌ้‚ฆใงใฏใใฎๅŸบ็คŽ็–พๆ‚ฃใฏๆฏ”่ผƒ็š„ๅคšๅฒใซใ‚ใŸใ‚‹็ตๆžœใงใ‚ใ‚‹ใ€‚JCใ‚ฆใ‚คใƒซใ‚นใฎๅˆๆ„ŸๆŸ“ใฏๅนผใƒปๅฐๅ…ๆœŸใซ่ตทใ“ใ‚Šใ€ๆˆไบบใฎๆŠ—ไฝ“ไฟๆœ‰็Ž‡ใฏๅ…จไบบๅฃใฎ80๏ผ…็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200205" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive multifocal leukoencephalopathy"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใŸใใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PML"@en ; + skos:closeMatch obo:MONDO_0016318 ; skos:prefLabel "้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡"@ja . -:1200206 - :hasNotificationNumber "26" ; - terms:description "HTLV-1ใฎใ‚ญใƒฃใƒชใ‚ขใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็—™ๆ€ง่„Š้ซ„้บป็—บใ‚’็คบใ™ไธ€็พคใ€‚"@ja ; - terms:identifier "1200206" ; - terms:source ; - a owl:Class ; - rdfs:label "HTLV-1-associated Myelopathy"@en, "HTLV-1้–ข้€ฃ่„Š้ซ„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "26" ; + dcterms:description "HTLV-1ใฎใ‚ญใƒฃใƒชใ‚ขใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็—™ๆ€ง่„Š้ซ„้บป็—บใ‚’็คบใ™ไธ€็พคใ€‚"@ja ; + dcterms:identifier "NANDO:1200206" ; + dcterms:source ; + a owl:Class ; + rdfs:label "HTLV-1-associated myelopathy"@en, "HTLV-1้–ข้€ฃ่„Š้ซ„็—‡"@ja, "ใˆใ„ใกใฆใƒใƒผใˆใ‚‹ใถใ„1ใ‹ใ‚“ใ‚Œใ‚“ใ›ใใšใ„ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HAM"@en, "HAM"@ja ; + skos:closeMatch obo:MONDO_0008039 ; skos:prefLabel "HTLV-1้–ข้€ฃ่„Š้ซ„็—‡"@ja . -:1200207 - :hasNotificationNumber "27" ; - terms:description "1930ๅนดใ€ใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…Theodor Fahr๏ผˆ1877๏ฝž1945๏ผ‰ใŒ็—…็†ๅญฆ็š„ใช็—‡ไพ‹ๅ ฑๅ‘Šใ‚’ใ—ใฆใ€ใใฎๅๅ‰ใŒ็—…ๅใซใคใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใƒ•ใ‚กใƒผใƒซ๏ผˆFahr๏ผ‰็—…ใจใ„ใ†็—…ๅใฏ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆ›–ๆ˜งใชใจใ“ใ‚ใŒใ‚ใ‚Šใ€ใ“ใ‚Œใพใงใ‚‚ๅคšใใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใ€ๆตทๅค–ใงใฏfamilial idiopathic basal ganglia calcification๏ผˆFIBGC๏ผ‰ใ€primary familial brain calcification๏ผˆPFBC๏ผ‰ใชใฉๆง˜ใ€…ใชๅ็งฐใŒไฝฟใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€ไธกๅดๅŸบๅบ•ๆ ธใซๆ˜Žใ‚‰ใ‹ใช็—…็š„ใช็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ€ไธ‹่จ˜ใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ใ‚‹้‘‘ๅˆฅ็–พๆ‚ฃใŒใชใ•ใ‚ŒใŸใ‚‚ใฎใ‚’็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆIdiopathic basal ganglia calcification๏ผšIBGC๏ผ‰ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅฎถๆ—ไพ‹๏ผˆๅฎถ็ณปๅ†…ใซ่ค‡ๆ•ฐใฎๅŒๆง˜ใฎๆ‚ฃ่€…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚๏ผ‰ใจๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใ‚„ใ€ๅพŒ่ฟฐใฎ้บไผๅญ็•ฐๅธธใŒๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใฏใ€ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆfamilial Idiopathic basal ganglia calcification๏ผšFIBGC๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ๅฝ“ๅˆใ€ๅญค็™บไพ‹ใจๆ€ใ‚ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ใใฎๅพŒใฎ่‡จๅบŠ็š„ๆคœ็ดขใ‹ใ‚‰ใ€ๅฎถๆ—ไพ‹ใจๅˆคๆ˜Žใ™ใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไปŠๅพŒใ€ๅฎถๆ—ไพ‹ใ‚’ไธปใซๆ›ดใชใ‚‹ๅŽŸๅ› ้บไผๅญใŒๅˆคๆ˜Žใ—ใฆใ„ใใ‚‚ใฎใจๆ€ใ‚ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200207" ; - terms:source ; - a owl:Class ; - rdfs:label "Idiopathic basal ganglia calcification"@en, "็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008947 ; + + nando:hasNotificationNumber "27" ; + dcterms:description "1930ๅนดใ€ใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…Theodor Fahr๏ผˆ1877๏ฝž1945๏ผ‰ใŒ็—…็†ๅญฆ็š„ใช็—‡ไพ‹ๅ ฑๅ‘Šใ‚’ใ—ใฆใ€ใใฎๅๅ‰ใŒ็—…ๅใซใคใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใƒ•ใ‚กใƒผใƒซ๏ผˆFahr๏ผ‰็—…ใจใ„ใ†็—…ๅใฏ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆ›–ๆ˜งใชใจใ“ใ‚ใŒใ‚ใ‚Šใ€ใ“ใ‚Œใพใงใ‚‚ๅคšใใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใ€ๆตทๅค–ใงใฏfamilial idiopathic basal ganglia calcification๏ผˆFIBGC๏ผ‰ใ€primary familial brain calcification๏ผˆPFBC๏ผ‰ใชใฉๆง˜ใ€…ใชๅ็งฐใŒไฝฟใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€ไธกๅดๅŸบๅบ•ๆ ธใซๆ˜Žใ‚‰ใ‹ใช็—…็š„ใช็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ€ไธ‹่จ˜ใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ใ‚‹้‘‘ๅˆฅ็–พๆ‚ฃใŒใชใ•ใ‚ŒใŸใ‚‚ใฎใ‚’็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆIdiopathic basal ganglia calcification๏ผšIBGC๏ผ‰ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅฎถๆ—ไพ‹๏ผˆๅฎถ็ณปๅ†…ใซ่ค‡ๆ•ฐใฎๅŒๆง˜ใฎๆ‚ฃ่€…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚๏ผ‰ใจๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใ‚„ใ€ๅพŒ่ฟฐใฎ้บไผๅญ็•ฐๅธธใŒๅˆคๆ˜Žใ—ใŸ็—‡ไพ‹ใฏใ€ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡๏ผˆfamilial Idiopathic basal ganglia calcification๏ผšFIBGC๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ๅฝ“ๅˆใ€ๅญค็™บไพ‹ใจๆ€ใ‚ใ‚ŒใŸ็—‡ไพ‹ใ‚‚ใใฎๅพŒใฎ่‡จๅบŠ็š„ๆคœ็ดขใ‹ใ‚‰ใ€ๅฎถๆ—ไพ‹ใจๅˆคๆ˜Žใ™ใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไปŠๅพŒใ€ๅฎถๆ—ไพ‹ใ‚’ไธปใซๆ›ดใชใ‚‹ๅŽŸๅ› ้บไผๅญใŒๅˆคๆ˜Žใ—ใฆใ„ใใ‚‚ใฎใจๆ€ใ‚ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200207" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic basal ganglia calcification"@en, "ใจใใฏใคใ›ใ„ใใฆใ„ใ‹ใใ›ใฃใ‹ใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IBGC"@en ; + skos:closeMatch obo:MONDO_0008947 ; skos:prefLabel "็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡"@ja . -:1200208 - :hasNotificationNumber "27" ; - terms:identifier "1200208" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:1200208" ; + dcterms:source ; a owl:Class ; - rdfs:label "Familial idiopathic basal ganglia calcification"@en, "ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Familial idiopathic basal ganglia calcification"@en, "ใ‹ใžใใ›ใ„ใจใฃใฑใคใ›ใ„ใใฆใ„ใ‹ใใ›ใฃใ‹ใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "FIBGC"@en, "FIBGC"@ja ; + skos:closeMatch obo:MONDO_0024538 ; skos:prefLabel "ๅฎถๆ—ๆ€ง็‰น็™บๆ€งๅŸบๅบ•ๆ ธ็Ÿณ็ฐๅŒ–็—‡"@ja . -:1200209 - :hasNotificationNumber "28" ; - terms:description "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น๏ผˆamyloidosis๏ผ‰ใฏใ€็ทš็ถญๆง‹้€ ใ‚’ใ‚‚ใค่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒใ€ๅ…จ่บซ่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ€€ใ‚ขใƒŸใƒญใ‚คใƒ‰ใฏใ€็—…็†ๅญฆ็š„ใซใ‚ขใƒซใ‚ซใƒชใ‚ณใƒณใ‚ด่ตคๆŸ“่‰ฒใงๆฉ™่ตค่‰ฒใซๆŸ“ใพใ‚Šใ€ๅๅ…‰้ก•ๅพฎ้กไธ‹ใง็ท‘่‰ฒใฎ่ค‡ๅฑˆๆŠ˜ใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่›‹็™ฝ่ณชใŒ็ซ‹ไฝ“ๆง‹้€ ๏ผˆใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ๏ผ‰ใ‚’ๅค‰ๅŒ–ใ•ใ›ใฆใ‚ขใƒŸใƒญใ‚คใƒ‰ใจใ—ใฆๅ‡้›†ใ—็–พๆ‚ฃใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‹ใ‚‰ใ€ใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ็—…ใฎ๏ผ‘ใคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200209" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น๏ผˆamyloidosis๏ผ‰ใฏใ€็ทš็ถญๆง‹้€ ใ‚’ใ‚‚ใค่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒใ€ๅ…จ่บซ่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ€€ใ‚ขใƒŸใƒญใ‚คใƒ‰ใฏใ€็—…็†ๅญฆ็š„ใซใ‚ขใƒซใ‚ซใƒชใ‚ณใƒณใ‚ด่ตคๆŸ“่‰ฒใงๆฉ™่ตค่‰ฒใซๆŸ“ใพใ‚Šใ€ๅๅ…‰้ก•ๅพฎ้กไธ‹ใง็ท‘่‰ฒใฎ่ค‡ๅฑˆๆŠ˜ใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่›‹็™ฝ่ณชใŒ็ซ‹ไฝ“ๆง‹้€ ๏ผˆใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ๏ผ‰ใ‚’ๅค‰ๅŒ–ใ•ใ›ใฆใ‚ขใƒŸใƒญใ‚คใƒ‰ใจใ—ใฆๅ‡้›†ใ—็–พๆ‚ฃใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‹ใ‚‰ใ€ใ‚ณใƒณใƒ•ใ‚ฉใƒกใƒผใ‚ทใƒงใƒณ็—…ใฎ๏ผ‘ใคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200209" ; + dcterms:source ; a owl:Class ; - rdfs:label "Systemic amyloidosis"@en, "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017816 ; + rdfs:label "Systemic amyloidosis"@en, "ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™"@ja-Hira, "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017816 ; skos:prefLabel "ๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200210 - :hasNotificationNumber "28" ; - terms:identifier "1200210" ; - terms:source ; - a owl:Class ; - rdfs:label "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹(TTR)ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200211 - :hasNotificationNumber "28" ; - terms:identifier "1200211" ; - terms:source ; - a owl:Class ; - rdfs:label "AL amyloidosis"@en, "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009693, mondo:MONDO_0019438 ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1200210" ; + dcterms:source ; + a owl:Class ; + rdfs:label "AL amyloidosis; Transthyretin-related senile systemic amyloidosis"@en, "ใ‚ใ‚“ใˆใใใ‚ใถใ‚Šใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™;ใ‚ใ†ใ˜ใ‚“ใ›ใ„ใจใ‚‰ใ‚“ใ™ใ•ใ„ใ‚Œใกใ‚“ใŒใŸ๏ผˆใฆใƒใƒผใฆใƒใƒผใ‚ใƒผใ‚‹๏ผ‰ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™;ใฏใ‚“ใฎใ†ใ›ใ„ใˆใƒผใˆใƒผใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™"@ja-Hira, "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹๏ผˆTTR๏ผ‰ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ALใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja, "Immunoglobulin-related amyloidosis"@en ; + skos:prefLabel "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹๏ผˆTTR๏ผ‰ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น;ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1200211" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Amyloid light-chain amyloidosis"@en, "ใ‚ใ‚“ใˆใใใ‚ใถใ‚Šใ‚“ใ›ใ„ใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™"@ja-Hira, "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AL amyloidosis"@en, "ALใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja, "Immunoglobulin-related amyloidosis"@en ; + skos:closeMatch obo:MONDO_0019438 ; skos:prefLabel "ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200212 - :hasNotificationNumber "28" ; - terms:identifier "1200212" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1200212" ; + dcterms:source ; a owl:Class ; - rdfs:label "senile systemic amyloidosis"@en, "่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "SSA"@en ; - skos:closeMatch mondo:MONDO_0018018 ; + rdfs:label "Transthyretin-related senile systemic amyloidosis"@en, "ใ‚ใ†ใ˜ใ‚“ใ›ใ„ใจใ‚‰ใ‚“ใ™ใ•ใ„ใ‚Œใกใ‚“ใŒใŸใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™"@ja-Hira, "่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "่€ไบบๆ€งTTRใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja, "่€ไบบๆ€งๅ…จ่บซๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + skos:closeMatch obo:MONDO_0018018 ; skos:prefLabel "่€ไบบๆ€งใƒˆใƒฉใƒณใ‚นใ‚ตใ‚คใƒฌใƒใƒณๅž‹ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200213 - :hasNotificationNumber "28" ; - terms:identifier "1200213" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1200213" ; + dcterms:source ; a owl:Class ; - rdfs:label "Reactive AA amyloidosis"@en, "ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Reactive AA amyloidosis"@en, "ใฏใ‚“ใฎใ†ใ›ใ„ใˆใƒผใˆใƒผใ‚ใฟใ‚ใ„ใฉใƒผใ—ใ™"@ja-Hira, "ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅๅฟœๆ€งAA"@ja ; skos:prefLabel "ๅๅฟœๆ€งAAใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200214 - :hasNotificationNumber "28" ; - terms:identifier "1200214" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1200214" ; + dcterms:source ; a owl:Class ; - rdfs:label "Familial amyloid polyneuropathy"@en, "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007100 ; + rdfs:label "Familial amyloid polyneuropathy"@en, "ใ‹ใžใใ›ใ„ใ‚ใฟใ‚ใ„ใฉใซใ‚…ใƒผใ‚ใฑใกใƒผ"@ja-Hira, "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FAP"@en, "FAP"@ja ; + skos:closeMatch obo:MONDO_0007100 ; skos:prefLabel "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja . -:1200215 - :hasNotificationNumber "29" ; - terms:description "็”Ÿไธ‹ๆ™‚ๅˆใฏไนณๅ…ๆ—ฉๆœŸใ‹ใ‚‰ใ€้ก”้ข็ญ‹ใ‚’ๅซใ‚€ๅ…จ่ˆฌๆ€งใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใ‚’ๆฅใ™ใ€‚้ ไฝ้–ข็ฏ€ใฎ้Žไผธๅฑ•ใจ่ฟ‘ไฝ้–ข็ฏ€ใฎๆ‹˜็ธฎใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคงๅŠใŒๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€ไธ€้ƒจใซๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ไพ‹ใŒใ‚ใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใฆใŠใ‚Šใ€Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎ้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็ต„็น”ๅญฆ็š„ใซใฏ็ญ‹็ทš็ถญๅฃŠๆญปใƒปๅ†็”Ÿๅค‰ๅŒ–ใŒไนใ—ใใ€ใ„ใ‚ใ‚†ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็•ฐใชใ‚‹็—…ๆ…‹ใŒใ‚ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎไธญ้–ขๅž‹ใจใ‚‚่จ€ใˆใ‚‹็ญ‹็กฌๅŒ–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎๅญ˜ๅœจใ‚’ไธปๅผตใ™ใ‚‹็ ”็ฉถ่€…ใ‚‚ใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€ๆใ‚‰ใไธ€้€ฃใฎใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใงใฏใชใ„ใ‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200215" ; - terms:source ; - a owl:Class ; - rdfs:label "Ullrich disease"@en, "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000355, mondo:MONDO_0009681 ; + + nando:hasNotificationNumber "29" ; + dcterms:description "็”Ÿไธ‹ๆ™‚ๅˆใฏไนณๅ…ๆ—ฉๆœŸใ‹ใ‚‰ใ€้ก”้ข็ญ‹ใ‚’ๅซใ‚€ๅ…จ่ˆฌๆ€งใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใ‚’ๆฅใ™ใ€‚้ ไฝ้–ข็ฏ€ใฎ้Žไผธๅฑ•ใจ่ฟ‘ไฝ้–ข็ฏ€ใฎๆ‹˜็ธฎใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคงๅŠใŒๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€ไธ€้ƒจใซๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ไพ‹ใŒใ‚ใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใฆใŠใ‚Šใ€Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎ้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็ต„็น”ๅญฆ็š„ใซใฏ็ญ‹็ทš็ถญๅฃŠๆญปใƒปๅ†็”Ÿๅค‰ๅŒ–ใŒไนใ—ใใ€ใ„ใ‚ใ‚†ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็•ฐใชใ‚‹็—…ๆ…‹ใŒใ‚ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎไธญ้–ขๅž‹ใจใ‚‚่จ€ใˆใ‚‹็ญ‹็กฌๅŒ–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎๅญ˜ๅœจใ‚’ไธปๅผตใ™ใ‚‹็ ”็ฉถ่€…ใ‚‚ใŠใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€ๆใ‚‰ใไธ€้€ฃใฎใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใงใฏใชใ„ใ‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200215" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ullrich disease"@en, "ใ†ใ‚‹ใ‚Šใฃใฒใณใ‚‡ใ†"@ja-Hira, "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Ullrich congenital muscular dystrophy"@en, "Ullrich's disease"@en, "ใ‚ฆใƒซใƒชใƒƒใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0000355, obo:MONDO_0009681 ; skos:prefLabel "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…"@ja . -:1200216 - :hasNotificationNumber "30" ; - terms:description "้ ไฝ็ญ‹ใŒๅฅฝใ‚“ใงไพตใ•ใ‚Œใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใฎ็ท็งฐใ€‚ไธ–็•Œ็š„ใซใฏๅฐ‘ใชใใจใ‚‚๏ผ™ใคใฎ็•ฐใชใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใพใงใฎใจใ“ใ‚ใ€ๆœฌ้‚ฆใงใฏใ€Œ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆ้บไผๅฝขๅผไธๆ˜Ž๏ผ‰ใฎ๏ผ“็–พๆ‚ฃใ—ใ‹่ฆ‹ใ„ใ ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ„ใšใ‚Œใ‚‚ๆœฌ้‚ฆใซใŠใ„ใฆ็™บ่ฆ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200216" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "้ ไฝ็ญ‹ใŒๅฅฝใ‚“ใงไพตใ•ใ‚Œใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใฎ็ท็งฐใ€‚ไธ–็•Œ็š„ใซใฏๅฐ‘ใชใใจใ‚‚๏ผ™ใคใฎ็•ฐใชใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใ‚Œใพใงใฎใจใ“ใ‚ใ€ๆœฌ้‚ฆใงใฏใ€Œ็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง๏ผ‰ใ€ใ€Œ็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ€๏ผˆ้บไผๅฝขๅผไธๆ˜Ž๏ผ‰ใฎ๏ผ“็–พๆ‚ฃใ—ใ‹่ฆ‹ใ„ใ ใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ„ใšใ‚Œใ‚‚ๆœฌ้‚ฆใซใŠใ„ใฆ็™บ่ฆ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200216" ; + dcterms:source ; a owl:Class ; - rdfs:label "Distal myopathy"@en, "้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018949 ; + rdfs:label "Distal myopathy"@en, "ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ"@ja-Hira, "้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018949 ; skos:prefLabel "้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200217 - :hasNotificationNumber "30" ; - terms:identifier "1200217" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:identifier "NANDO:1200217" ; + dcterms:source ; a owl:Class ; - rdfs:label "Miyoshi myopathy"@en, "ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009685, mondo:MONDO_0024545 ; + rdfs:label "Miyoshi myopathy"@en, "ใฟใ‚ˆใ—ใŒใŸใฟใŠใฑใกใƒผ"@ja-Hira, "ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Distal dysferlinopathy"@en, "Miyoshi distal myopathy"@en ; + skos:closeMatch obo:MONDO_0009685 ; skos:prefLabel "ไธ‰ๅฅฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200218 - :hasNotificationNumber "30" ; - terms:identifier "1200218" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:identifier "NANDO:1200218" ; + dcterms:source ; a owl:Class ; - rdfs:label "Distal myopathy with rimmed vacuoles"@en, "็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007827, mondo:MONDO_0011603 ; + rdfs:label "Distal myopathy with rimmed vacuoles"@en, "ใตใกใฉใ‚Šใใ†ใปใ†ใ‚’ใจใ‚‚ใชใ†ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ"@ja-Hira, "็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "DMRV"@en, "GNE myopathy"@en, "GNEใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + skos:closeMatch obo:MONDO_0007827, obo:MONDO_0011603, obo:MONDO_0014945 ; skos:prefLabel "็ธๅ–ใ‚Š็ฉบ่ƒžใ‚’ไผดใ†้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200219 - :hasNotificationNumber "30" ; - terms:identifier "1200219" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:identifier "NANDO:1200219" ; + dcterms:source ; a owl:Class ; - rdfs:label "Oculopharyngodistal myopathy"@en, "็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008117 ; + rdfs:label "Oculopharyngodistal myopathy"@en, "ใŒใ‚“ใ„ใ‚“ใจใ†ใˆใ‚“ใ„ใŒใŸใฟใŠใฑใกใƒผ"@ja-Hira, "็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020793, obo:MONDO_0025193 ; skos:prefLabel "็œผๅ’ฝ้ ญ้ ไฝๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200220 - :hasNotificationNumber "31" ; - terms:description "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹่ฟ‘ไฝ็ญ‹ๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใซๅŠ ใˆใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‚ˆใ‚Šๆ‰‹ๆŒ‡ใƒป่‚˜้–ข็ฏ€ใƒป่ถณ้–ข็ฏ€ใชใฉใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’ไผดใ†ใƒŸใ‚ชใƒ‘ใƒใƒผใงใ‚ใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใงใ‚ใ‚‹ใŒใ€ๆœ€่ฟ‘ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใ€‚ ่‹ฑๅ›ฝใฎ็–ซๅญฆ่ชฟๆŸปใงใฏใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆœ‰็—…็Ž‡0.77๏ผˆ10ไธ‡ๅฏพ๏ผ‰ใงใ‚ใ‚‹ใ€‚Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธญใงใฏใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใŒ้ซ˜้ ปๅบฆใงใ‚ใ‚‹ใ€‚ๅนณๆˆ22ๅนดๅบฆๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ่ฒป่ฃœๅŠฉ้‡‘้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใใฎ้กž็ธ็–พๆ‚ฃใฎๅฎŸๆ…‹่ชฟๆŸป๏ผˆ่ฅฟ้‡Ž็ญ๏ผ‰ใ€ใง็–ซๅญฆ่ชฟๆŸปใŒ่กŒใ‚ใ‚ŒใŸใŒใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆ‚ฃ่€…ๆ•ฐใฏใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎๆ‚ฃ่€…ๆ•ฐใฎ1/10็จ‹ๅบฆใงใ‚ใ‚Šใ€ๆœฌ้‚ฆใงใฏใ€ๅคง้ƒจๅˆ†ใฎไพ‹ใŒๆœช่จบๆ–ญใฎใพใพใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใ€ๆœฌ้‚ฆใ‹ใ‚‰ใฏใ€1989ๅนดใจ1992ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ไธกไพ‹ใจใ‚‚ใซ้บไผๅญฆ็š„ใซ่จบๆ–ญใŒ็ขบๅฎšใ—ใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "1200220" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹่ฟ‘ไฝ็ญ‹ๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใจ็ญ‹่Ž็ธฎใซๅŠ ใˆใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‚ˆใ‚Šๆ‰‹ๆŒ‡ใƒป่‚˜้–ข็ฏ€ใƒป่ถณ้–ข็ฏ€ใชใฉใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’ไผดใ†ใƒŸใ‚ชใƒ‘ใƒใƒผใงใ‚ใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใงใ‚ใ‚‹ใŒใ€ๆœ€่ฟ‘ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใจๅŒๆง˜ใซCollagen VI้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใ€‚ ่‹ฑๅ›ฝใฎ็–ซๅญฆ่ชฟๆŸปใงใฏใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆœ‰็—…็Ž‡0.77๏ผˆ10ไธ‡ๅฏพ๏ผ‰ใงใ‚ใ‚‹ใ€‚Collagen VI้–ข้€ฃใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธญใงใฏใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใŒ้ซ˜้ ปๅบฆใงใ‚ใ‚‹ใ€‚ๅนณๆˆ22ๅนดๅบฆๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ่ฒป่ฃœๅŠฉ้‡‘้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใ€Œใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใจใใฎ้กž็ธ็–พๆ‚ฃใฎๅฎŸๆ…‹่ชฟๆŸป๏ผˆ่ฅฟ้‡Ž็ญ๏ผ‰ใ€ใง็–ซๅญฆ่ชฟๆŸปใŒ่กŒใ‚ใ‚ŒใŸใŒใ€ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผใฎๆ‚ฃ่€…ๆ•ฐใฏใ‚ฆใƒซใƒชใƒƒใƒ’็—…ใฎๆ‚ฃ่€…ๆ•ฐใฎ1/10็จ‹ๅบฆใงใ‚ใ‚Šใ€ๆœฌ้‚ฆใงใฏใ€ๅคง้ƒจๅˆ†ใฎไพ‹ใŒๆœช่จบๆ–ญใฎใพใพใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใ€ๆœฌ้‚ฆใ‹ใ‚‰ใฏใ€1989ๅนดใจ1992ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ไธกไพ‹ใจใ‚‚ใซ้บไผๅญฆ็š„ใซ่จบๆ–ญใŒ็ขบๅฎšใ—ใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200220" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bethlem Myopathy"@en, "ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008029, mondo:MONDO_0024530 ; + rdfs:label "Bethlem Myopathy"@en, "ในใ™ใ‚Œใ‚€ใฟใŠใฑใกใƒผ"@ja-Hira, "ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008029 ; skos:prefLabel "ใƒ™ใ‚นใƒฌใƒ ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200221 - :hasNotificationNumber "32" ; - terms:description "้ชจๆ ผ็ญ‹ใฎ็ญ‹็ทš็ถญๅ†…ใซ็‰นๅพด็š„ใช่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžใŒๅ‡บ็พใ™ใ‚‹ๆฅตใ‚ใฆ็จ€ๅฐ‘ใช้บไผๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ€ๅŽŸๅ› ไธๆ˜Žใงๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚่‡ดๆญปๆ€งๅฟƒ็ญ‹็—‡ใจ้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใƒ‘ใƒใƒผ๏ผˆ็ญ‹ๅŠ›ไฝŽไธ‹ใƒป็ญ‹่Ž็ธฎ๏ผ‰ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช้€ฒ่กŒๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200221" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "้ชจๆ ผ็ญ‹ใฎ็ญ‹็ทš็ถญๅ†…ใซ็‰นๅพด็š„ใช่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžใŒๅ‡บ็พใ™ใ‚‹ๆฅตใ‚ใฆ็จ€ๅฐ‘ใช้บไผๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ€ๅŽŸๅ› ไธๆ˜Žใงๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚่‡ดๆญปๆ€งๅฟƒ็ญ‹็—‡ใจ้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใƒ‘ใƒใƒผ๏ผˆ็ญ‹ๅŠ›ไฝŽไธ‹ใƒป็ญ‹่Ž็ธฎ๏ผ‰ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช้€ฒ่กŒๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200221" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autophagic vacuolar myopathy"@en, "่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Autophagic vacuolar myopathy"@en, "ใ˜ใ“ใฉใ‚“ใ—ใ‚‡ใใใ†ใปใ†ใ›ใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "่‡ชๅทฑ่ฒช้ฃŸ็ฉบ่ƒžๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200222 - :hasNotificationNumber "32" ; - terms:identifier "1200222" ; - terms:source ; - a owl:Class ; - rdfs:label "Danon disease"@en, "Danon็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010281 ; - skos:prefLabel "Danon็—…"@ja . - -:1200223 - :hasNotificationNumber "32" ; - terms:identifier "1200223" ; - terms:source ; - a owl:Class ; - rdfs:label "X-linked Myopathy with excessive autophagy"@en, "้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "XMEA"@en ; - skos:closeMatch mondo:MONDO_0010684 ; + + nando:hasNotificationNumber "32" ; + dcterms:identifier "NANDO:1200222" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Danon disease"@en, "ใ ใฎใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒ€ใƒŽใƒณ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Danon็—…"@ja ; + skos:closeMatch obo:MONDO_0010281 ; + skos:prefLabel "ใƒ€ใƒŽใƒณ็—…"@ja . + + + nando:hasNotificationNumber "32" ; + dcterms:identifier "NANDO:1200223" ; + dcterms:source ; + a owl:Class ; + rdfs:label "X-linked Myopathy with excessive autophagy"@en, "ใ‹ใ˜ใ‚‡ใ†ใ˜ใ“ใฉใ‚“ใ—ใ‚‡ใใ‚’ใจใ‚‚ใชใ†ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "XMEA"@en, "XMEA"@ja ; + skos:closeMatch obo:MONDO_0010684 ; skos:prefLabel "้Žๅ‰ฐ่‡ชๅทฑ่ฒช้ฃŸใ‚’ไผดใ†๏ผธ้€ฃ้Ž–ๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200224 - :hasNotificationNumber "33" ; - terms:description "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค๏ผˆSchwartz-Jampel syndrome๏ผšSJS๏ผ‰ใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ๅˆใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ใ€€SJSใฏใ€1997ๅนดใซGiedionใ‚‰ใซใ‚ˆใ‚Š่‡จๅบŠๅž‹ใ‹ใ‚‰๏ผ‘๏ผกใ€๏ผ‘๏ผขใ€๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใ€‚๏ผ‘๏ผกใจ๏ผ‘๏ผขใฏ้‡็—‡ๅบฆใซใ‚ˆใฃใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€ๆ˜Ž็ขบใชๅŒบๅˆ†ใฏ้›ฃใ—ใ„ใ€‚็ญ‹็—‡็Šถใจ้ชจใ€่ปŸ้ชจ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸ่‡ดๆญปใ‚’ๅ‘ˆใ™ใ‚‹๏ผ’ๅž‹ใฏใ€็พๅœจใงใฏใ€leukemia inhibitory factor receptor๏ผˆLIFR๏ผ‰้บไผๅญๅค‰็•ฐใซ่ตทๅ› ใ™ใ‚‹Stuve-Wiedemann็—‡ๅ€™็พคใจๅŒไธ€ใฎ็–พๆ‚ฃใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200224" ; - terms:source ; - a owl:Class ; - rdfs:label "Schwartz-Jampel syndrome"@en, "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009717 ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค๏ผˆSchwartz-Jampel syndrome๏ผšSJS๏ผ‰ใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ๅˆใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚ใ€€SJSใฏใ€1997ๅนดใซGiedionใ‚‰ใซใ‚ˆใ‚Š่‡จๅบŠๅž‹ใ‹ใ‚‰๏ผ‘๏ผกใ€๏ผ‘๏ผขใ€๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใ€‚๏ผ‘๏ผกใจ๏ผ‘๏ผขใฏ้‡็—‡ๅบฆใซใ‚ˆใฃใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€ๆ˜Ž็ขบใชๅŒบๅˆ†ใฏ้›ฃใ—ใ„ใ€‚็ญ‹็—‡็Šถใจ้ชจใ€่ปŸ้ชจ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸ่‡ดๆญปใ‚’ๅ‘ˆใ™ใ‚‹๏ผ’ๅž‹ใฏใ€็พๅœจใงใฏใ€leukemia inhibitory factor receptor๏ผˆLIFR๏ผ‰้บไผๅญๅค‰็•ฐใซ่ตทๅ› ใ™ใ‚‹Stuve-Wiedemann็—‡ๅ€™็พคใจๅŒไธ€ใฎ็–พๆ‚ฃใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200224" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Schwartz-Jampel syndrome"@en, "ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "SJS"@en, "Schwartz-Jampel็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009717 ; skos:prefLabel "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja . -:1200225 - :hasNotificationNumber "34" ; - terms:description "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹๏ผˆneurofibromatosis type1๏ผšNF1ใ€ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…๏ผ‰ใฏใ€ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจ็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–้ชจใ€็œผใ€็ฅž็ตŒ็ณปใ€๏ผˆๅ‰ฏ่…Žใ€ๆถˆๅŒ–็ฎก๏ผ‰ใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹๏ผˆneurofibromatosis type2๏ผšNF2๏ผ‰ใฏใ€ไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹่ด็ฅž็ตŒ้ž˜่…ซ๏ผˆๅ‰ๅบญ็ฅž็ตŒ้ž˜่…ซ๏ผ‰ใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–ใฎ็ฅž็ตŒ็ณป่…ซ็˜๏ผˆ่„ณๅŠใณ่„Š้ซ„็ฅž็ตŒ้ž˜่…ซใ€้ซ„่†œ่…ซใ€่„Š้ซ„ไธŠ่กฃ่…ซ๏ผ‰ใ‚„็šฎ่†š็—…ๅค‰๏ผˆ็šฎไธ‹ใ‚„็šฎๅ†…ใฎๆœซๆขข็ฅž็ตŒ้ž˜่…ซใ€่‰ฒ็ด ๆ–‘๏ผ‰ใ€็œผ็—…ๅค‰๏ผˆ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200225" ; + + nando:hasNotificationNumber "34" ; + dcterms:description "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹๏ผˆneurofibromatosis type1๏ผšNF1ใ€ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…๏ผ‰ใฏใ€ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจ็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–้ชจใ€็œผใ€็ฅž็ตŒ็ณปใ€๏ผˆๅ‰ฏ่…Žใ€ๆถˆๅŒ–็ฎก๏ผ‰ใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹๏ผˆneurofibromatosis type2๏ผšNF2๏ผ‰ใฏใ€ไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹่ด็ฅž็ตŒ้ž˜่…ซ๏ผˆๅ‰ๅบญ็ฅž็ตŒ้ž˜่…ซ๏ผ‰ใ‚’ไธปๅพดใจใ—ใ€ใใฎไป–ใฎ็ฅž็ตŒ็ณป่…ซ็˜๏ผˆ่„ณๅŠใณ่„Š้ซ„็ฅž็ตŒ้ž˜่…ซใ€้ซ„่†œ่…ซใ€่„Š้ซ„ไธŠ่กฃ่…ซ๏ผ‰ใ‚„็šฎ่†š็—…ๅค‰๏ผˆ็šฎไธ‹ใ‚„็šฎๅ†…ใฎๆœซๆขข็ฅž็ตŒ้ž˜่…ซใ€่‰ฒ็ด ๆ–‘๏ผ‰ใ€็œผ็—…ๅค‰๏ผˆ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200225" ; a owl:Class ; - rdfs:label "Neurofibromatosis"@en, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡"@ja ; + rdfs:label "Neurofibromatosis"@en, "ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018975, mondo:MONDO_0021061 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018975, obo:MONDO_0021061 ; skos:prefLabel "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡"@ja . -:1200226 - :hasNotificationNumber "34" ; - terms:identifier "1200226" ; - terms:source ; - a owl:Class ; - rdfs:label "Neurofibromatosis Type 1"@en, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018975, mondo:MONDO_0021061 ; - skos:prefLabel "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹"@ja . - -:1200227 - :hasNotificationNumber "34" ; - terms:identifier "1200227" ; - terms:source ; - a owl:Class ; - rdfs:label "Neurofibromatosis Type 2"@en, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ…กๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007039, mondo:MONDO_0021061 ; - skos:prefLabel "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ…กๅž‹"@ja . - -:1200228 - :hasNotificationNumber "35" ; - terms:description "ๅคฉ็–ฑ็˜กใฏใ€็šฎ่†šใƒป็ฒ˜่†œใซ็—…ๅค‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž้–“ใฎๆŽฅ็€ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœ็”Ÿใ˜ใ‚‹ๆฃ˜่ž่งฃ๏ผˆacantholysis๏ผ‰ใซใ‚ˆใ‚‹่กจ็šฎๅ†…ๆฐด็–ฑๅฝขๆˆใ‚’่ชใ‚ใ€ๅ…็–ซ็—…็†ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž่†œ่กจ้ขใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็šฎ่†š็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏๅพช็’ฐ่ก€ไธญใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๅคฉ็–ฑ็˜กๆŠ—ๅŽŸ่›‹็™ฝใฏใ€่กจ็šฎ็ดฐ่ƒž้–“ๆŽฅ็€ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆŒใคใ‚ซใƒ‰ใƒ˜ใƒชใƒณๅž‹็ดฐ่ƒž้–“ๆŽฅ็€ๅ› ๅญใ€ใƒ‡ใ‚นใƒขใ‚ฐใƒฌใ‚คใƒณใงใ‚ใ‚‹ใ€‚ใ€€ๅคฉ็–ฑ็˜กใฏใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใ€ใใฎไป–ใฎ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใใฎไป–ใจใ—ใฆใ€่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜กใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜กใ€็–ฑ็–น็Šถๅคฉ็–ฑ็˜กใ€่–ฌๅ‰ค่ช˜็™บๆ€งๅคฉ็–ฑ็˜กใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200228" ; - terms:source ; - a owl:Class ; - rdfs:label "Pemphigus"@en, "ๅคฉ็–ฑ็˜ก"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006594 ; + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:1200226" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neurofibromatosis type 1"@en, "ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "NF1"@en, "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…"@ja ; + skos:closeMatch obo:MONDO_0018975, obo:MONDO_0021061 ; + skos:prefLabel "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹"@ja . + + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:1200227" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neurofibromatosis type 2"@en, "ใ—ใ‚“ใ‘ใ„ใ›ใ‚“ใ„ใ—ใ‚…ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "NF2"@en ; + skos:closeMatch obo:MONDO_0007039, obo:MONDO_0021061 ; + skos:prefLabel "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "35" ; + dcterms:description "ๅคฉ็–ฑ็˜กใฏใ€็šฎ่†šใƒป็ฒ˜่†œใซ็—…ๅค‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž้–“ใฎๆŽฅ็€ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœ็”Ÿใ˜ใ‚‹ๆฃ˜่ž่งฃ๏ผˆacantholysis๏ผ‰ใซใ‚ˆใ‚‹่กจ็šฎๅ†…ๆฐด็–ฑๅฝขๆˆใ‚’่ชใ‚ใ€ๅ…็–ซ็—…็†ๅญฆ็š„ใซ่กจ็šฎ็ดฐ่ƒž่†œ่กจ้ขใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็šฎ่†š็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏๅพช็’ฐ่ก€ไธญใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๅคฉ็–ฑ็˜กๆŠ—ๅŽŸ่›‹็™ฝใฏใ€่กจ็šฎ็ดฐ่ƒž้–“ๆŽฅ็€ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆŒใคใ‚ซใƒ‰ใƒ˜ใƒชใƒณๅž‹็ดฐ่ƒž้–“ๆŽฅ็€ๅ› ๅญใ€ใƒ‡ใ‚นใƒขใ‚ฐใƒฌใ‚คใƒณใงใ‚ใ‚‹ใ€‚ใ€€ๅคฉ็–ฑ็˜กใฏใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใ€ใใฎไป–ใฎ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใใฎไป–ใจใ—ใฆใ€่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜กใ€ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜กใ€่ฝ่‘‰็Šถๅคฉ็–ฑ็˜กใฎไบœๅž‹ใงใ‚ใ‚‹็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜กใ€็–ฑ็–น็Šถๅคฉ็–ฑ็˜กใ€่–ฌๅ‰ค่ช˜็™บๆ€งๅคฉ็–ฑ็˜กใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200228" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pemphigus"@en, "ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "ๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006594 ; skos:prefLabel "ๅคฉ็–ฑ็˜ก"@ja . -:1200229 - :hasNotificationNumber "35" ; - terms:identifier "1200229" ; - terms:source ; - a owl:Class ; - rdfs:label "ๅคฉ็–ฑ็˜ก๏ผˆๅฐ‹ๅธธๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200230 - :hasNotificationNumber "35" ; - terms:identifier "1200230" ; - terms:source ; - a owl:Class ; - rdfs:label "pemphigus foliaceus"@en, "ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019324 ; - skos:prefLabel "ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰"@ja . - -:1200231 - :hasNotificationNumber "35" ; - terms:identifier "1200231" ; - terms:source ; - a owl:Class ; - rdfs:label "Paraneoplastic pemphigus"@en, "ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018974 ; - skos:prefLabel "ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰"@ja . - -:1200232 - :hasNotificationNumber "35" ; - terms:identifier "1200232" ; - terms:source ; - a owl:Class ; - rdfs:label "pemphigus vegetans"@en, "ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019322 ; - skos:prefLabel "ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰"@ja . - -:1200233 - :hasNotificationNumber "35" ; - terms:identifier "1200233" ; - terms:source ; - a owl:Class ; - rdfs:label "Pemphigus erythematosus"@en, "ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019323 ; - skos:prefLabel "ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰"@ja . - -:1200234 - :hasNotificationNumber "36" ; - terms:description "่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ไธปใจใ—ใฆๅ…ˆๅคฉ็š„็ด ๅ› ใซใ‚ˆใ‚Šใ€ๆ—ฅๅธธ็”Ÿๆดปใงๅค–ๅŠ›ใฎๅŠ ใ‚ใ‚‹้ƒจไฝใซๆฐด็–ฑใŒๅๅพฉใ—ใฆ็”Ÿใšใ‚‹ใ“ใจใ‚’ไธปใช่‡จๅบŠ็—‡็Šถใจใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€้บไผๅฝขๅผใ€่‡จๅบŠ็—‡็Šถไธฆใณใซ้›ป้ก•ๆ‰€่ฆ‹ใซๅŸบใฅใ30ไปฅไธŠใฎไบœๅž‹ใซ็ดฐๅˆ†ใ•ใ‚Œใ‚‹ใŒใ€ๅ„ไบœๅž‹้–“ใซๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใ‚’ใพใจใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€๏ผ—ๅž‹ใ€๏ผ”ๅž‹ๅˆใฏ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ใ“ใ‚Œใ‚‰ใฎๅˆ†้กžๆณ•ใฎใ†ใกใ€๏ผ•ๅคง็—…ๅž‹ใ€ใ™ใชใ‚ใกใ€โ‘ ๅ˜็ด”ๅž‹ใ€โ‘กๆŽฅๅˆ้ƒจๅž‹ใ€โ‘ขๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹โ‘ฃๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€ๅŠใณโ‘คใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พคใซๅˆ†ใ‘ใ‚‹ๆ–นๆณ•ใŒๆœ€ๆ–ฐใฎๅˆ†้กžใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200234" ; - terms:source ; - a owl:Class ; - rdfs:label "Epidermolysis bullosa"@en, "่กจ็šฎๆฐด็–ฑ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006541 ; + + nando:hasNotificationNumber "35" ; + dcterms:identifier "NANDO:1200229" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pemphigus vulgaris"@en, "ใ˜ใ‚“ใ˜ใ‚‡ใ†ใ›ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅคฉ็–ฑ็˜ก๏ผˆๅฐ‹ๅธธๆ€ง๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0008219 ; + skos:prefLabel "ๅฐ‹ๅธธๆ€งๅคฉ็–ฑ็˜ก"@ja . + + + nando:hasNotificationNumber "35" ; + dcterms:identifier "NANDO:1200230" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pemphigus foliaceus"@en, "ใ‚‰ใใ‚ˆใ†ใ˜ใ‚‡ใ†ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "่ฝ่‘‰็Šถๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅคฉ็–ฑ็˜ก๏ผˆ่ฝ่‘‰็Šถ๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0019324 ; + skos:prefLabel "่ฝ่‘‰็Šถๅคฉ็–ฑ็˜ก"@ja . + + + nando:hasNotificationNumber "35" ; + dcterms:identifier "NANDO:1200231" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paraneoplastic pemphigus"@en, "ใ—ใ‚…ใ‚ˆใ†ใšใ„ใฏใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅคฉ็–ฑ็˜ก๏ผˆ่…ซ็˜้šไผดๆ€ง๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0018974 ; + skos:prefLabel "่…ซ็˜้šไผดๆ€งๅคฉ็–ฑ็˜ก"@ja . + + + nando:hasNotificationNumber "35" ; + dcterms:identifier "NANDO:1200232" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pemphigus vegetans"@en, "ใžใ†ใ—ใ‚‡ใใ›ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅคฉ็–ฑ็˜ก๏ผˆๅข—ๆฎ–ๆ€ง๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0019322 ; + skos:prefLabel "ๅข—ๆฎ–ๆ€งๅคฉ็–ฑ็˜ก"@ja . + + + nando:hasNotificationNumber "35" ; + dcterms:identifier "NANDO:1200233" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pemphigus erythematosus"@en, "ใ“ใ†ใฏใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Senear-Usher syndrome"@en, "ๅคฉ็–ฑ็˜ก๏ผˆ็ด…ๆ–‘ๆ€ง๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0019323 ; + skos:prefLabel "็ด…ๆ–‘ๆ€งๅคฉ็–ฑ็˜ก"@ja . + + + nando:hasNotificationNumber "36" ; + dcterms:description "่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ไธปใจใ—ใฆๅ…ˆๅคฉ็š„็ด ๅ› ใซใ‚ˆใ‚Šใ€ๆ—ฅๅธธ็”Ÿๆดปใงๅค–ๅŠ›ใฎๅŠ ใ‚ใ‚‹้ƒจไฝใซๆฐด็–ฑใŒๅๅพฉใ—ใฆ็”Ÿใšใ‚‹ใ“ใจใ‚’ไธปใช่‡จๅบŠ็—‡็Šถใจใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€้บไผๅฝขๅผใ€่‡จๅบŠ็—‡็Šถไธฆใณใซ้›ป้ก•ๆ‰€่ฆ‹ใซๅŸบใฅใ30ไปฅไธŠใฎไบœๅž‹ใซ็ดฐๅˆ†ใ•ใ‚Œใ‚‹ใŒใ€ๅ„ไบœๅž‹้–“ใซๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใ‚’ใพใจใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€๏ผ—ๅž‹ใ€๏ผ”ๅž‹ๅˆใฏ๏ผ“ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚ใ“ใ‚Œใ‚‰ใฎๅˆ†้กžๆณ•ใฎใ†ใกใ€๏ผ•ๅคง็—…ๅž‹ใ€ใ™ใชใ‚ใกใ€โ‘ ๅ˜็ด”ๅž‹ใ€โ‘กๆŽฅๅˆ้ƒจๅž‹ใ€โ‘ขๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹โ‘ฃๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€ๅŠใณโ‘คใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พคใซๅˆ†ใ‘ใ‚‹ๆ–นๆณ•ใŒๆœ€ๆ–ฐใฎๅˆ†้กžใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200234" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Epidermolysis bullosa"@en, "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006541 ; skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡"@ja . -:1200235 - :hasNotificationNumber "36" ; - terms:identifier "1200235" ; - terms:source ; - a owl:Class ; - rdfs:label "Epidermolysis bullosa simplex"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017610 ; - skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰"@ja . - -:1200236 - :hasNotificationNumber "36" ; - terms:identifier "1200236" ; - terms:source ; - a owl:Class ; - rdfs:label "Junctional epidermolysis bullosa"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017612 ; - skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰"@ja . - -:1200237 - :hasNotificationNumber "36" ; - terms:identifier "1200237" ; - terms:source ; - a owl:Class ; - rdfs:label "Dominant dystrophic epidermolysis bullosa"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007549 ; - skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰"@ja . - -:1200238 - :hasNotificationNumber "36" ; - terms:identifier "1200238" ; - terms:source ; - a owl:Class ; - rdfs:label "Recessive dystrophic epidermolysis bullosa"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009179 ; - skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰"@ja . - -:1200239 - :hasNotificationNumber "36" ; - terms:identifier "1200239" ; - terms:source ; - a owl:Class ; - rdfs:label "Kindler syndrome"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008260 ; - skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰"@ja . - -:1200240 - :hasNotificationNumber "37" ; - terms:description "ไนพ็™ฌใซใฏใ€ๆœ€ใ‚‚็™บ็—‡้ ปๅบฆใฎ้ซ˜ใ„ๅฐ‹ๅธธๆ€งไนพ็™ฌใฎไป–ใซไบœๅž‹ใจใ—ใฆใ€ไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผˆ้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ๏ผ‰ใ€ไนพ็™ฌๆ€ง็ด…็šฎ็—‡ใ€่†ฟ็–ฑๆ€งไนพ็™ฌใŒใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎ่†ฟ็–ฑๆ€งไนพ็™ฌใซใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้™ๅฑ€ๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆŽŒ่น ่†ฟ็–ฑ็—‡ใ€ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž๏ผ‰ใŒใ‚ใ‚Šใ€ๆœฌ็จฟใงๅ–ใ‚Šๆ‰ฑใ†ใฎใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใซใฏๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆvon Zumbuschๅž‹๏ผ‰ใ€ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใ€็–ฑ็–นๆ€ง่†ฟ็—‚็–นใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚von Zumbuschๅž‹ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎไป–ใฎๅž‹ใงใฏใ€ๅ…จ่บซ็—‡็Šถใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใง็ด…ๆ–‘ใจ่†ฟ็–ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ใ€€็ตŒ้Žไธญใซใ€ๅ…จ่บซ็‚Ž็—‡ๅๅฟœใซไผดใฃใฆ่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ๅฟƒใƒปๅพช็’ฐๅ™จไธๅ…จใ€ๅ‘ผๅธๅ™จไธๅ…จใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€่†ฟ็–ฑๅž‹่–ฌ็–น๏ผˆๆ€ฅๆ€งๆฑŽ็™บๆ€ง็™บ็–นๆ€ง่†ฟ็–ฑ็—‡๏ผˆacute generalized exanthematous pustulosis๏ผšAGEP๏ผ‰ใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ‚„่ง’ๅฑคไธ‹่†ฟ็–ฑ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200240" ; - terms:source ; - a owl:Class ; - rdfs:label "Pustular Psoriasis"@en, "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Generalized Pustular Psoriasis"@en ; - skos:closeMatch mondo:MONDO_0013626, mondo:MONDO_0016597, mondo:MONDO_0022205 ; + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:1200235" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Epidermolysis bullosa simplex"@en, "ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "EBS"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017610 ; + skos:prefLabel "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:1200236" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Junctional epidermolysis bullosa"@en, "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "JEB"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017612 ; + skos:prefLabel "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:1200237" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dominant dystrophic epidermolysis bullosa"@en, "ใ‚†ใ†ใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:1200238" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Recessive dystrophic epidermolysis bullosa"@en, "ใ‚Œใฃใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "RDEB"@en, "Recessive DEB"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0009179 ; + skos:prefLabel "ๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:1200239" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Kindler syndrome"@en, "ใใ‚“ใฉใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0008260 ; + skos:prefLabel "ใ‚ญใƒณใƒ‰ใƒฉใƒผ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "37" ; + dcterms:description "ไนพ็™ฌใซใฏใ€ๆœ€ใ‚‚็™บ็—‡้ ปๅบฆใฎ้ซ˜ใ„ๅฐ‹ๅธธๆ€งไนพ็™ฌใฎไป–ใซไบœๅž‹ใจใ—ใฆใ€ไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผˆ้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ๏ผ‰ใ€ไนพ็™ฌๆ€ง็ด…็šฎ็—‡ใ€่†ฟ็–ฑๆ€งไนพ็™ฌใŒใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎ่†ฟ็–ฑๆ€งไนพ็™ฌใซใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้™ๅฑ€ๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆŽŒ่น ่†ฟ็–ฑ็—‡ใ€ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž๏ผ‰ใŒใ‚ใ‚Šใ€ๆœฌ็จฟใงๅ–ใ‚Šๆ‰ฑใ†ใฎใฏ่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใซใฏๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆvon Zumbuschๅž‹๏ผ‰ใ€ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใ€็–ฑ็–นๆ€ง่†ฟ็—‚็–นใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚von Zumbuschๅž‹ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎไป–ใฎๅž‹ใงใฏใ€ๅ…จ่บซ็—‡็Šถใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใง็ด…ๆ–‘ใจ่†ฟ็–ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ใ€€็ตŒ้Žไธญใซใ€ๅ…จ่บซ็‚Ž็—‡ๅๅฟœใซไผดใฃใฆ่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ๅฟƒใƒปๅพช็’ฐๅ™จไธๅ…จใ€ๅ‘ผๅธๅ™จไธๅ…จใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใจ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€่†ฟ็–ฑๅž‹่–ฌ็–น๏ผˆๆ€ฅๆ€งๆฑŽ็™บๆ€ง็™บ็–นๆ€ง่†ฟ็–ฑ็—‡๏ผˆacute generalized exanthematous pustulosis๏ผšAGEP๏ผ‰ใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ‚„่ง’ๅฑคไธ‹่†ฟ็–ฑ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200240" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pustular psoriasis"@en, "ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰"@ja-Hira, "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "GPP"@en, "Generalized pustular psoriasis"@en ; + skos:closeMatch obo:MONDO_0016597, obo:MONDO_0022205 ; skos:prefLabel "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja . -:1200241 - :hasNotificationNumber "37" ; - terms:identifier "1200241" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:identifier "NANDO:1200241" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acuteย generalized pustular psoriasis"@en, "ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Acuteย generalized pustular psoriasis,ย von Zumbuschย type"@en, "von Zumbusch ๅž‹"@ja ; + rdfs:label "Acute generalized pustular psoriasis"@en, "ใใ‚…ใ†ใ›ใ„ใฏใ‚“ใฑใคใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“"@ja-Hira, "ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AGEP"@en, "Acute generalized pustular psoriasis, von Zumbusch type"@en, "von Zumbuschๅž‹"@ja ; skos:prefLabel "ๆ€ฅๆ€งๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ"@ja . -:1200242 - :hasNotificationNumber "37" ; - terms:identifier "1200242" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:identifier "NANDO:1200242" ; + dcterms:source ; a owl:Class ; - rdfs:label "Infantile generalized pustular psoriasis"@en, "ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Childhood generalized pustular psoriasis"@en, "ใ—ใ‚‡ใ†ใซใฏใ‚“ใฑใคใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“"@ja-Hira, "ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๅฐๅ…ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌ"@ja . -:1200243 - :hasNotificationNumber "37" ; - terms:identifier "1200243" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:identifier "NANDO:1200243" ; + dcterms:source ; a owl:Class ; - rdfs:label "Impetigo Herpesformis"@en, "็–ฑ็–น็Šถ่†ฟ็—‚็–น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Impetigo herpetiformis"@en, "ใปใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฎใ†ใ‹ใ—ใ‚“"@ja-Hira, "็–ฑ็–น็Šถ่†ฟ็—‚็–น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004591 ; skos:prefLabel "็–ฑ็–น็Šถ่†ฟ็—‚็–น"@ja . -:1200244 - :hasNotificationNumber "37" ; - terms:identifier "1200244" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:identifier "NANDO:1200244" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acrodermatitis Continua of Hallopeau"@en, "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Generalized Acrodermatitis Continua of Hallopeau"@en ; - skos:closeMatch mondo:MONDO_0013626 ; + rdfs:label "Acrodermatitis continua of Hallopeau"@en, "ใ‘ใ„ใ‚Šใ‚…ใ†ใ›ใ„ใ—ใŸใ‚“ใฒใตใˆใ‚“ใฎใฏใ‚“ใฑใคใ‹"@ja-Hira, "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Generalized acrodermatitis continua of Hallopeau"@en, "ใ‚ขใƒญใƒใƒผ็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–"@ja, "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽๆฑŽ็™บๅž‹"@ja ; + skos:closeMatch obo:MONDO_0013626 ; skos:prefLabel "็จฝ็•™ๆ€ง่‚ข็ซฏ็šฎ่†š็‚ŽใฎๆฑŽ็™บๅŒ–"@ja . -:1200245 - :hasNotificationNumber "38" ; - terms:description "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJSใ€็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใ€ๆฐด็–ฑใŒๅคš็™บใ—ใ€่กจ็šฎใฎๅฃŠๆญปๆ€ง้šœๅฎณใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200245" ; - terms:source ; - a owl:Class ; - rdfs:label "Stevens-Johnson syndrome"@en, "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018229 ; + + nando:hasNotificationNumber "38" ; + dcterms:description "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJSใ€็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใ€ๆฐด็–ฑใŒๅคš็™บใ—ใ€่กจ็šฎใฎๅฃŠๆญปๆ€ง้šœๅฎณใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200245" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stevens-Johnson syndrome"@en, "ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SJS"@en, "Stevens-Johnson็—‡ๅ€™็พค"@ja, "็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018229 ; skos:prefLabel "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:1200246 - :hasNotificationNumber "39" ; - terms:description "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆToxic epidermal necrolysis๏ผšTEN๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใŒๅบƒ็ฏ„ๅ›ฒใซๅ‡บ็พใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TENใฏใ€ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJS๏ผ‰ใ‹ใ‚‰้€ฒๅฑ•ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200246" ; - terms:source ; - a owl:Class ; - rdfs:label "Toxic epidermal necrolysis"@en, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019810 ; + + nando:hasNotificationNumber "39" ; + dcterms:description "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆToxic epidermal necrolysis๏ผšTEN๏ผ‰ใฏใ€้ซ˜็†ฑใ‚„ๅ…จ่บซๅ€ฆๆ€ ๆ„Ÿใชใฉใฎ็—‡็Šถใ‚’ไผดใฃใฆใ€ๅฃๅ”‡ใƒปๅฃ่…”ใ€็œผใ€ๅค–้™ฐ้ƒจใชใฉใ‚’ๅซใ‚€ๅ…จ่บซใซ็ด…ๆ–‘ใ€ใณใ‚‰ใ‚“ใŒๅบƒ็ฏ„ๅ›ฒใซๅ‡บ็พใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TENใฏใ€ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค๏ผˆStevens-Johnson syndrome๏ผšSJS๏ผ‰ใ‹ใ‚‰้€ฒๅฑ•ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200246" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Toxic epidermal necrolysis"@en, "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†"@ja-Hira, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "TEN"@en ; + skos:closeMatch obo:MONDO_0019810 ; skos:prefLabel "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡"@ja . -:1200247 - :hasNotificationNumber "39" ; - terms:identifier "1200247" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:identifier "NANDO:1200247" ; + dcterms:source ; a owl:Class ; - rdfs:label "toxic epidermal necrolysis with spots"@en, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "TEN without maclues"@en ; + rdfs:label "Toxic epidermal necrolysis with spots"@en, "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใˆใ™ใ˜ใ‡ใ„ใˆใ™ใ—ใ‚“ใฆใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "TEN with macules"@en ; skos:prefLabel "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆSJS้€ฒๅฑ•ๅž‹๏ผ‰"@ja . -:1200248 - :hasNotificationNumber "39" ; - terms:identifier "1200248" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:identifier "NANDO:1200248" ; + dcterms:source ; a owl:Class ; - rdfs:label "toxic epidermal necrolysis without spots"@en, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "TEN on large erythema "@en ; + rdfs:label "Toxic epidermal necrolysis without spots"@en, "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใณใพใ‚“ใ›ใ„ใ“ใ†ใฏใ‚“ใ—ใ‚“ใฆใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "TEN on large erythema"@en ; skos:prefLabel "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆใณใพใ‚“ๆ€ง็ด…็ญ้€ฒๅฑ•ๅž‹๏ผ‰"@ja . -:1200249 - :hasNotificationNumber "39" ; - terms:identifier "1200249" ; - terms:source ; - a owl:Class ; - rdfs:label "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200250 - :hasNotificationNumber "39" ; - terms:identifier "1200250" ; - terms:source ; - a owl:Class ; - rdfs:label "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200251 - :hasNotificationNumber "40" ; - terms:description "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใฏๅคงๅ‹•่„ˆๅŠใณใใฎไธป่ฆๅˆ†ๆžใ‚„่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‚Ž็—‡ๆ€งๅฃ่‚ฅๅŽšใ‚’ใใŸใ—ใ€ใพใŸใใฎ็ตๆžœใจใ—ใฆ็‹ญ็ช„ใ€้–‰ๅกžใพใŸใฏๆ‹กๅผต็—…ๅค‰ใ‚’ๆฅใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐ็š„ๅคงๅž‹่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใพใŸใฏ้–‰ๅกžใ‚’ๆฅใ—ใŸๅ‹•่„ˆใฎๆ”ฏ้…่‡“ๅ™จใซ็‰นๆœ‰ใฎ่™š่ก€้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏ้€†ใซๆ‹กๅผต็—…ๅค‰ใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใŒใใฎ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ็”Ÿใ˜ใŸ่ก€็ฎก้ ˜ๅŸŸใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่บซใฎ่ซธ่‡“ๅ™จใซๅคšๅฝฉใช็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใง้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค๏ผ‰ใจใ•ใ‚Œใฆใ„ใŸใŒๅ›ฝ้š›ๅˆ†้กžใซๆฒฟใฃใฆใ€้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจ็ตฑไธ€ใ—ใŸใ€‚ใพใŸใ€ๆฉˆ้ชจๅ‹•่„ˆ่„ˆๆ‹ใฎๆถˆๅคฑใŒใ‚ˆใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€่„ˆ็„กใ—็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅใฏใ€1908ๅนดใซๆœฌ็–พๆ‚ฃใ‚’็™บ่ฆ‹ใ—ใŸ้‡‘ๆฒขๅคงๅญฆ็œผ็ง‘ใฎ้ซ˜ๅฎ‰ๅณไบบๅšๅฃซใฎๅใซ็”ฑๆฅใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200251" ; - terms:source ; - a owl:Class ; - rdfs:label "Takayasu's Arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Aortitis syndrome"@en, "Takayasu arteritis"@en ; - skos:closeMatch mondo:MONDO_0006656, mondo:MONDO_0017991 ; + + nando:hasNotificationNumber "39" ; + dcterms:identifier "NANDO:1200249" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Toxic epidermal necrolysis (particular form)"@en, "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใจใใ—ใ‚…ใŒใŸ๏ผ‰"@ja-Hira, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆ็‰นๆฎŠๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "39" ; + dcterms:identifier "NANDO:1200250" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Toxic epidermal necrolysis (abortive form)"@en, "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†๏ผˆใตใœใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡๏ผˆไธๅ…จๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:description "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใฏๅคงๅ‹•่„ˆๅŠใณใใฎไธป่ฆๅˆ†ๆžใ‚„่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‚Ž็—‡ๆ€งๅฃ่‚ฅๅŽšใ‚’ใใŸใ—ใ€ใพใŸใใฎ็ตๆžœใจใ—ใฆ็‹ญ็ช„ใ€้–‰ๅกžใพใŸใฏๆ‹กๅผต็—…ๅค‰ใ‚’ๆฅใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐ็š„ๅคงๅž‹่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใพใŸใฏ้–‰ๅกžใ‚’ๆฅใ—ใŸๅ‹•่„ˆใฎๆ”ฏ้…่‡“ๅ™จใซ็‰นๆœ‰ใฎ่™š่ก€้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏ้€†ใซๆ‹กๅผต็—…ๅค‰ใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใŒใใฎ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ็”Ÿใ˜ใŸ่ก€็ฎก้ ˜ๅŸŸใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่บซใฎ่ซธ่‡“ๅ™จใซๅคšๅฝฉใช็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใง้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค๏ผ‰ใจใ•ใ‚Œใฆใ„ใŸใŒๅ›ฝ้š›ๅˆ†้กžใซๆฒฟใฃใฆใ€้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจ็ตฑไธ€ใ—ใŸใ€‚ใพใŸใ€ๆฉˆ้ชจๅ‹•่„ˆ่„ˆๆ‹ใฎๆถˆๅคฑใŒใ‚ˆใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€่„ˆ็„กใ—็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅใฏใ€1908ๅนดใซๆœฌ็–พๆ‚ฃใ‚’็™บ่ฆ‹ใ—ใŸ้‡‘ๆฒขๅคงๅญฆ็œผ็ง‘ใฎ้ซ˜ๅฎ‰ๅณไบบๅšๅฃซใฎๅใซ็”ฑๆฅใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200251" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Aortitis syndrome"@en, "Takayasu's arteritis"@en ; + skos:closeMatch obo:MONDO_0006656, obo:MONDO_0017991 ; skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja . -:1200252 - :hasNotificationNumber "40" ; - terms:identifier "1200252" ; - terms:source ; - a owl:Class ; - rdfs:label "Type I Takayasu arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ… ๅž‹๏ผ‰"@ja . - -:1200253 - :hasNotificationNumber "40" ; - terms:identifier "1200253" ; - terms:source ; - a owl:Class ; - rdfs:label "Type โ…กa Takayasu arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กaๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กaๅž‹๏ผ‰"@ja . - -:1200254 - :hasNotificationNumber "40" ; - terms:identifier "1200254" ; - terms:source ; - a owl:Class ; - rdfs:label "Type โ…กb Takayasu arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กbๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…กbๅž‹๏ผ‰"@ja . - -:1200255 - :hasNotificationNumber "40" ; - terms:identifier "1200255" ; - terms:source ; - a owl:Class ; - rdfs:label "Type โ…ข Takayasu arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ขๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ขๅž‹๏ผ‰"@ja . - -:1200256 - :hasNotificationNumber "40" ; - terms:identifier "1200256" ; - terms:source ; - a owl:Class ; - rdfs:label "Type โ…ฃ Takayasu arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ฃๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…ฃๅž‹๏ผ‰"@ja . - -:1200257 - :hasNotificationNumber "40" ; - terms:identifier "1200257" ; - terms:source ; - a owl:Class ; - rdfs:label "Type โ…ค Takayasu arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…คๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆโ…คๅž‹๏ผ‰"@ja . - -:1200258 - :hasNotificationNumber "41" ; - terms:description "ๅคงๅž‹ใƒปไธญๅž‹ใฎๅ‹•่„ˆใซๅทจ็ดฐ่ƒžใ‚’ไผดใ†่‚‰่Šฝ่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ๅ‹•่„ˆ็‚Žใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžใ€็‰นใซๅค–้ šๅ‹•่„ˆใ‚’้ซ˜ใ„้ ปๅบฆใงๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅด้ ญๅ‹•่„ˆใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ไปฅๅ‰ใฏใ€Œๅด้ ญๅ‹•่„ˆ็‚Žใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€็พๅœจใฏใ€Œๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Žใ€ใจใใฎๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚50ๆญณไปฅไธŠใฎ้ซ˜้ฝข่€…ใซ็™บ็—‡ใ—ใ€่‹ฅๅนด่€…ใซ็™บ็—‡ใ™ใ‚‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅฏพ็…ง็š„ใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ’๏ฝž๏ผ“ใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใƒชใ‚ฆใƒžใƒๆ€งๅคš็™บ็ญ‹็—›็—‡ใ‚’ไผดใ„ใ€ๅพŒ่ฟฐใ™ใ‚‹ใ‚ˆใ†ใซไธก่€…ใฏๆฅตใ‚ใฆ่ฟ‘ไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅœฐ็†็š„ใชๅใ‚ŠๅŠใณ้บไผ็ด ๅ› ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ๆฌง็ฑณ็™ฝไบบใซๅคšใใ€ๆ—ฅๆœฌใ‚’ๅซใ‚ใ‚ขใ‚ธใ‚ขไบบใซใฏๅฐ‘ใชใ„ใ€‚"@ja ; - terms:identifier "1200258" ; - terms:source ; - a owl:Class ; - rdfs:label "Giant cell arteritis"@en, "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008538 ; + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:1200252" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type I Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ1ใŒใŸ๏ผ‰"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:1200253" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type II a Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ2ใˆใƒผใŒใŸ๏ผ‰"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIaๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIaๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:1200254" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type II b Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ2ใณใƒผใŒใŸ๏ผ‰"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIbๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIbๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:1200255" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type III Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ3ใŒใŸ๏ผ‰"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIIๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIIIๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:1200256" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type IV Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ4ใŒใŸ๏ผ‰"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIVๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆIVๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:1200257" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type V Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆ5ใŒใŸ๏ผ‰"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆVๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆVๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "41" ; + dcterms:description "ๅคงๅž‹ใƒปไธญๅž‹ใฎๅ‹•่„ˆใซๅทจ็ดฐ่ƒžใ‚’ไผดใ†่‚‰่Šฝ่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ๅ‹•่„ˆ็‚Žใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžใ€็‰นใซๅค–้ šๅ‹•่„ˆใ‚’้ซ˜ใ„้ ปๅบฆใงๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅด้ ญๅ‹•่„ˆใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ไปฅๅ‰ใฏใ€Œๅด้ ญๅ‹•่„ˆ็‚Žใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€็พๅœจใฏใ€Œๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Žใ€ใจใใฎๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚50ๆญณไปฅไธŠใฎ้ซ˜้ฝข่€…ใซ็™บ็—‡ใ—ใ€่‹ฅๅนด่€…ใซ็™บ็—‡ใ™ใ‚‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅฏพ็…ง็š„ใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ’๏ฝž๏ผ“ใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใƒชใ‚ฆใƒžใƒๆ€งๅคš็™บ็ญ‹็—›็—‡ใ‚’ไผดใ„ใ€ๅพŒ่ฟฐใ™ใ‚‹ใ‚ˆใ†ใซไธก่€…ใฏๆฅตใ‚ใฆ่ฟ‘ไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅœฐ็†็š„ใชๅใ‚ŠๅŠใณ้บไผ็ด ๅ› ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ๆฌง็ฑณ็™ฝไบบใซๅคšใใ€ๆ—ฅๆœฌใ‚’ๅซใ‚ใ‚ขใ‚ธใ‚ขไบบใซใฏๅฐ‘ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200258" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Giant cell arteritis"@en, "ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "GCA"@en ; + skos:closeMatch obo:MONDO_0008538 ; skos:prefLabel "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž"@ja . -:1200259 - :hasNotificationNumber "41" ; - terms:identifier "1200259" ; - terms:source ; - a owl:Class ; - rdfs:label "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใจใ‚™ใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200260 - :hasNotificationNumber "41" ; - terms:identifier "1200260" ; - terms:source ; - a owl:Class ; - rdfs:label "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใ™ใ‚™ๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใจใ‚™ใซใ‚‚ๅˆ†ๅธƒ๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200261 - :hasNotificationNumber "42" ; - terms:description "ๅ‹•่„ˆใฏ่ก€็ฎกๅพ„ใซใ‚ˆใ‚Šใ€ๅคงๅž‹ใ€ไธญๅž‹ใ€ๅฐๅž‹ใ€ๆฏ›็ดฐ่ก€็ฎกใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใฏใ€ไธญๅž‹่ก€็ฎกใ‚’ไธปไฝ“ใจใ—ใฆใ€่ก€็ฎกๅฃใซ็‚Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰ใฏไธ€ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใŸ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใฏใ€ๆฏ›็ดฐ่ก€็ฎกใ‚’ไธปไฝ“ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฏใ€็•ฐใชใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใ‚‚่ก€ๆธ…ไธญใซใฏๆคœๅ‡บใ•ใ‚Œใšใ€็พๆ™‚็‚นใงใฏใ€ใ“ใฎ็–พๆ‚ฃใซๅฏพใ™ใ‚‹็‰น็•ฐๆ€งใฎ้ซ˜ใ„่จบๆ–ญใƒžใƒผใ‚ซใƒผใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใƒ•ใƒฉใƒณใ‚นใชใฉใงใฏใ€Bๅž‹่‚็‚Žใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซไผดใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒ็›ธๅฝ“ๆ•ฐๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏใพใ‚Œใซใ—ใ‹่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚PANใฏMPAใซๆฏ”่ผƒใ—ใฆ่‹ฅๅนฒ่‹ฅใ„ๅนด้ฝขๅฑคใซๅคšใใ€ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ55ๆญณใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ“๏ผš๏ผ‘ใงใ‚„ใ‚„็”ทๆ€งใซๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200261" ; - terms:source ; - a owl:Class ; - rdfs:label "Polyarteritis nodosa"@en, "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019170 ; + + nando:hasNotificationNumber "41" ; + dcterms:identifier "NANDO:1200259" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cranial giant cell arteritis"@en, "ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆใใใจใ†ใฉใ†ใฟใ‚ƒใใƒปใŒใใฉใ†ใฟใ‚ƒใใƒปใŒใ‚“ใฉใ†ใฟใ‚ƒใใชใฉใฎใšใŒใ„ใ‚Šใ‚‡ใ†ใ„ใใฎใฉใ†ใฟใ‚ƒใใซใ’ใ‚“ใใ‚‡ใ๏ผ‰"@ja-Hira, "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใฉใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "cranial GCA"@en, "ๅด้ ญๅ‹•่„ˆ็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0008538 ; + skos:prefLabel "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆๅด้ ญๅ‹•่„ˆใƒป้กŽๅ‹•่„ˆใƒป็œผๅ‹•่„ˆใชใฉใฎ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€๏ผ‰"@ja . + + + nando:hasNotificationNumber "41" ; + dcterms:identifier "NANDO:1200260" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Large-vessel giant cell arteritis"@en, "ใใ‚‡ใ•ใ„ใผใ†ใ›ใ„ใฉใ†ใฟใ‚ƒใใˆใ‚“๏ผˆใšใŒใ„ใ‚Šใ‚‡ใ†ใ„ใใฎใฉใ†ใฟใ‚ƒใใซใ’ใ‚“ใใ‚‡ใใ›ใšใ ใ„ใฉใ†ใฟใ‚ƒใใƒปใใ†ใ‘ใ„ใฉใ†ใฟใ‚ƒใใƒปใ•ใ“ใคใ‹ใฉใ†ใฟใ‚ƒใใชใฉใซใ‚‚ใถใ‚“ใท๏ผ‰"@ja-Hira, "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใšๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใฉใซใ‚‚ๅˆ†ๅธƒ๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "LV-GCA"@en ; + skos:closeMatch obo:MONDO_0008538 ; + skos:prefLabel "ๅทจ็ดฐ่ƒžๆ€งๅ‹•่„ˆ็‚Ž๏ผˆ้ ญ่“‹้ ˜ๅŸŸใฎๅ‹•่„ˆใซ้™ๅฑ€ใ›ใšๅคงๅ‹•่„ˆใƒป็ท้ ธๅ‹•่„ˆใƒป้Ž–้ชจไธ‹ๅ‹•่„ˆใชใฉใซใ‚‚ๅˆ†ๅธƒ๏ผ‰"@ja . + + + nando:hasNotificationNumber "42" ; + dcterms:description "ๅ‹•่„ˆใฏ่ก€็ฎกๅพ„ใซใ‚ˆใ‚Šใ€ๅคงๅž‹ใ€ไธญๅž‹ใ€ๅฐๅž‹ใ€ๆฏ›็ดฐ่ก€็ฎกใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใฏใ€ไธญๅž‹่ก€็ฎกใ‚’ไธปไฝ“ใจใ—ใฆใ€่ก€็ฎกๅฃใซ็‚Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰ใฏไธ€ใคใฎ็–พๆ‚ฃ็พคใจใ—ใฆๆ‰ใˆใ‚‰ใ‚Œใฆใ„ใŸ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใฏใ€ๆฏ›็ดฐ่ก€็ฎกใ‚’ไธปไฝ“ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฏใ€็•ฐใชใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใ‚‚่ก€ๆธ…ไธญใซใฏๆคœๅ‡บใ•ใ‚Œใšใ€็พๆ™‚็‚นใงใฏใ€ใ“ใฎ็–พๆ‚ฃใซๅฏพใ™ใ‚‹็‰น็•ฐๆ€งใฎ้ซ˜ใ„่จบๆ–ญใƒžใƒผใ‚ซใƒผใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใƒ•ใƒฉใƒณใ‚นใชใฉใงใฏใ€Bๅž‹่‚็‚Žใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซไผดใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒ็›ธๅฝ“ๆ•ฐๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏใพใ‚Œใซใ—ใ‹่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚PANใฏMPAใซๆฏ”่ผƒใ—ใฆ่‹ฅๅนฒ่‹ฅใ„ๅนด้ฝขๅฑคใซๅคšใใ€ๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ55ๆญณใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ“๏ผš๏ผ‘ใงใ‚„ใ‚„็”ทๆ€งใซๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200261" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Polyarteritis nodosa"@en, "ใ‘ใฃใ›ใคใ›ใ„ใŸใฏใคใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PAN"@en, "Periarteritis nodosa"@en, "็ต็ฏ€ๆ€งๅ‹•่„ˆๅ‘จๅ›ฒ็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0019170 ; skos:prefLabel "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž"@ja . -:1200262 - :hasNotificationNumber "43" ; - terms:description "1994ๅนดใซChapel Hillใง้–‹ใ‹ใ‚ŒใŸๅ›ฝ้š›ไผš่ญฐใซใŠใ„ใฆใ€ใ“ใ‚Œใพใง็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ไธญๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซ้™ๅฑ€ใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚ŽใฎใฟใŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใจๅฎš็พฉใ•ใ‚Œใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅฐๅ‹•ใƒป้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใฏๅˆฅใฎ็–พๆ‚ฃ็พคใจใ—ใฆๅŒบๅˆฅใ•ใ‚ŒใŸใ€‚ๅพŒ่€…ใฏใ€่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใŒใปใจใ‚“ใฉใฟใ‚‰ใ‚Œใชใ„ใ“ใจใจๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ‚’็‰นๅพดใจใ—ใ€ANCA้–ข้€ฃ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚ใ“ใฎใ†ใกใ€่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใŒ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใ‚„ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ‘ใงใ€ๅฅฝ็™บๅนด้ฝขใฏ55๏ฝž74ๆญณใจ้ซ˜้ฝข่€…ใซๅคšใ„ใ€‚ๅนด้–“็™บ็—‡็Ž‡ใฏใƒ‰ใ‚คใƒ„ใซใŠใ‘ใ‚‹๏ผ“ไบบ/็™พไธ‡ไบบใ‹ใ‚‰่‹ฑๅ›ฝใซใŠใ‘ใ‚‹8.4ไบบ/็™พไธ‡ไบบใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200262" ; - terms:source ; + + nando:hasNotificationNumber "43" ; + dcterms:description "1994ๅนดใซChapel Hillใง้–‹ใ‹ใ‚ŒใŸๅ›ฝ้š›ไผš่ญฐใซใŠใ„ใฆใ€ใ“ใ‚Œใพใง็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž๏ผˆperiarteritis nodosa๏ผšPAN๏ผ‰ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ไธญๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซ้™ๅฑ€ใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚ŽใฎใฟใŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใจๅฎš็พฉใ•ใ‚Œใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅฐๅ‹•ใƒป้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใฏๅˆฅใฎ็–พๆ‚ฃ็พคใจใ—ใฆๅŒบๅˆฅใ•ใ‚ŒใŸใ€‚ๅพŒ่€…ใฏใ€่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใŒใปใจใ‚“ใฉใฟใ‚‰ใ‚Œใชใ„ใ“ใจใจๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ‚’็‰นๅพดใจใ—ใ€ANCA้–ข้€ฃ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚ใ“ใฎใ†ใกใ€่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใŒ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž๏ผˆmicroscopic polyangiitis๏ผšMPA๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใ‚„ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏใปใผ๏ผ‘๏ผš๏ผ‘ใงใ€ๅฅฝ็™บๅนด้ฝขใฏ55๏ฝž74ๆญณใจ้ซ˜้ฝข่€…ใซๅคšใ„ใ€‚ๅนด้–“็™บ็—‡็Ž‡ใฏใƒ‰ใ‚คใƒ„ใซใŠใ‘ใ‚‹๏ผ“ไบบ/็™พไธ‡ไบบใ‹ใ‚‰่‹ฑๅ›ฝใซใŠใ‘ใ‚‹8.4ไบบ/็™พไธ‡ไบบใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200262" ; + dcterms:source ; a owl:Class ; - rdfs:label "Microscopic polyangiitis"@en, "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019124 ; + rdfs:label "Microscopic polyangiitis"@en, "ใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“"@ja-Hira, "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MPA"@en ; + skos:closeMatch obo:MONDO_0019124 ; skos:prefLabel "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž"@ja . -:1200263 - :hasNotificationNumber "44" ; - terms:description "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏใ€ไปฅๅ‰ใฏใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡ใจ็งฐใ•ใ‚Œใฆใ„ใŸ็–พๆ‚ฃใงใ€็—…็†็ต„็น”ๅญฆ็š„ใซ(๏ผ‘)ๅ…จ่บซใฎๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žใ€(๏ผ’)ไธŠๆฐ—้“ใจ่‚บใ‚’ไธปใจใ™ใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง็‚Žใ€(๏ผ“)ๅŠๆœˆไฝ“ๅฝขๆˆ่…Ž็‚Žใ‚’ๅ‘ˆใ—ใ€ใใฎ็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰)ใŒ้–ขไธŽใ™ใ‚‹่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ…ƒๆฅ็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹ใ€‚ๆ—ฉๆœŸ็ขบๅฎš่จบๆ–ญใซANCAใฎๆธฌๅฎšใฏๆฅตใ‚ใฆๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ANCAใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใฏใ€ๆฌง็ฑณใงใฏใ€ใปใจใ‚“ใฉใŒใƒ—ใƒญใƒ†ใ‚คใƒใƒผใ‚น๏ผ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆPR3-ANCA๏ผ‰ใงใ‚ใ‚‹ใŒใ€ใ‚ใŒๅ›ฝใงใฏใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„ๅŠๆ•ฐใ‚’ๅ ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200263" ; - terms:source ; - a owl:Class ; - rdfs:label "Granulomatosis with Polyangiitis"@en, "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Wegeners granulomatosis"@en ; - skos:closeMatch mondo:MONDO_0012105 ; + + nando:hasNotificationNumber "44" ; + dcterms:description "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏใ€ไปฅๅ‰ใฏใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡ใจ็งฐใ•ใ‚Œใฆใ„ใŸ็–พๆ‚ฃใงใ€็—…็†็ต„็น”ๅญฆ็š„ใซ(๏ผ‘)ๅ…จ่บซใฎๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žใ€(๏ผ’)ไธŠๆฐ—้“ใจ่‚บใ‚’ไธปใจใ™ใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง็‚Žใ€(๏ผ“)ๅŠๆœˆไฝ“ๅฝขๆˆ่…Ž็‚Žใ‚’ๅ‘ˆใ—ใ€ใใฎ็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰)ใŒ้–ขไธŽใ™ใ‚‹่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ…ƒๆฅ็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹ใ€‚ๆ—ฉๆœŸ็ขบๅฎš่จบๆ–ญใซANCAใฎๆธฌๅฎšใฏๆฅตใ‚ใฆๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ANCAใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใฏใ€ๆฌง็ฑณใงใฏใ€ใปใจใ‚“ใฉใŒใƒ—ใƒญใƒ†ใ‚คใƒใƒผใ‚น๏ผ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆPR3-ANCA๏ผ‰ใงใ‚ใ‚‹ใŒใ€ใ‚ใŒๅ›ฝใงใฏใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„ๅŠๆ•ฐใ‚’ๅ ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200263" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Granulomatosis with polyangiitis"@en, "ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "GPA"@en, "Wegeners granulomatosis"@en, "ใ‚ฆใ‚งใ‚ฒใƒŠใƒผ่‚‰่Šฝ่…ซ็—‡"@ja ; + skos:closeMatch obo:MONDO_0012105 ; skos:prefLabel "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . -:1200264 - :hasNotificationNumber "45" ; - terms:description "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆeosinophilic granulomatosis with polyangiitis๏ผšEGPA๏ผ‰ใฏใ€ๅพ“ๆฅใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผˆallergic granulomatous angiitis๏ผšAGA๏ผ‰ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค๏ผˆChurg Strauss syndrome๏ผšCSS๏ผ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ€2012ๅนดใฎๅ›ฝ้š›ไผš่ญฐใงๅ็งฐๅค‰ๆ›ดใŒใชใ•ใ‚ŒใŸใ€‚ๆ—ฅๆœฌ่ชžๅใ‚‚ใ€ใ“ใ‚Œใซๅ‘ผๅฟœใ—ใฆๆคœ่จŽใ•ใ‚Œใ€่กจ่จ˜ใฎใ‚ˆใ†ใซๅฎšใ‚ใ‚‰ใ‚ŒใŸใ€‚ใ€€่‡จๅบŠ็š„็‰นๅพดใฏใ€ๅ…ˆ่กŒ็—‡็Šถใจใ—ใฆๆฐ—็ฎกๆ”ฏ็‚Žๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒใฟใ‚‰ใ‚Œใ€ๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ่ก€็ฎก็‚Žใ‚’็”Ÿใ˜ใ€ๆœซๆขข็ฅž็ตŒ็‚Žใ€็ดซๆ–‘ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜ใ€่„ณๆข—ๅกžใƒป่„ณๅ‡บ่ก€ใƒปๅฟƒ็ญ‹ๆข—ๅกžใƒปๅฟƒๅค–่†œ็‚Žใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚30๏ฝž60ๆญณใฎๅฅณๆ€งใซๅฅฝ็™บใ—ใ€็”ท๏ผšๅฅณ๏ผ๏ผ”๏ผš๏ผ–ใงใ‚„ใ‚„ๅฅณๆ€งใซๅคšใ„ใ€‚ใ€€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๅนด้–“ๆ–ฐ่ฆๆ‚ฃ่€…ๆ•ฐใฏใ€็ด„100ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅนด้–“ใฎๅŒป็™‚ๆ–ฝ่จญๅ—่จบ่€…ใฏใ€็ด„1,800ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ก€ไธญใฎๅฅฝ้…ธ็ƒๅข—ๅŠ ไปฅๅค–ใซใ€ๅฅฝ้…ธ็ƒๆ€ง็ต„็น”้šœๅฎณๅ› ๅญ๏ผˆECPใชใฉ๏ผ‰ใฎไธŠๆ˜‡ใ€IgE้ซ˜ๅ€คใชใฉใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„50๏ผ…ใฎ็—‡ไพ‹ใง่ก€ๆธ…ไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ใ€€็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใฏใ€็œŸ็šฎๅฐ่ก€็ฎกใ‚’ไธญๅฟƒใซๆ ธๅกตใ‚’ไผดใ„ใ€่ก€็ฎกๅ‘จๅ›ฒใฎๅฅฝไธญ็ƒใจ่‘—ๆ˜Žใชๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹็ดฐๅฐ่ก€็ฎกใฎ่‚‰่Šฝ่…ซๆ€งใ‚ใ‚‹ใ„ใฏใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚คใƒ‰ๅค‰ๆ€งใ‚’ไผดใ†ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚„็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Ž๏ผˆleukocytoclastic vasculitis๏ผ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซใ€่ก€็ฎกๅค–ใซ่‚‰่Šฝ่…ซๅฝขๆˆใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ€‚่จบๆ–ญใฏๅพŒ่ฟฐใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€(๏ผ‘)ๅ…ˆ่กŒใ™ใ‚‹ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚ใ‚‹ใ„ใฏใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใ€(๏ผ’)่ก€ไธญใฎๅฅฝ้…ธ็ƒใฎๅข—ๅŠ ใ€(๏ผ“)ๅ‰้ …ใซใ‚ใ‚‹่ก€็ฎก็‚Ž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ใ•ใ‚‰ใซ็—…็†็ต„็น”ๆ‰€่ฆ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ็ขบๅฎŸใซใชใ‚‹ใ€‚ๅ‚่€ƒๆ‰€่ฆ‹ใจใ—ใฆใ€่ก€ๆฒˆไบข้€ฒใ€่ก€ๅฐๆฟๅข—ๅŠ ใ€IgE้ซ˜ๅ€คใ€่ก€ๆธ…MPO-ANCA๏ผˆp-ANCA๏ผ‰้™ฝๆ€งใชใฉใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200264" ; - terms:source ; - a owl:Class ; - rdfs:label "Eosinophilic Granulomatosis withย Polyangiitis"@en, "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015943 ; + + nando:hasNotificationNumber "45" ; + dcterms:description "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆeosinophilic granulomatosis with polyangiitis๏ผšEGPA๏ผ‰ใฏใ€ๅพ“ๆฅใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผˆallergic granulomatous angiitis๏ผšAGA๏ผ‰ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค๏ผˆChurg Strauss syndrome๏ผšCSS๏ผ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸ่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ€2012ๅนดใฎๅ›ฝ้š›ไผš่ญฐใงๅ็งฐๅค‰ๆ›ดใŒใชใ•ใ‚ŒใŸใ€‚ๆ—ฅๆœฌ่ชžๅใ‚‚ใ€ใ“ใ‚Œใซๅ‘ผๅฟœใ—ใฆๆคœ่จŽใ•ใ‚Œใ€่กจ่จ˜ใฎใ‚ˆใ†ใซๅฎšใ‚ใ‚‰ใ‚ŒใŸใ€‚ใ€€่‡จๅบŠ็š„็‰นๅพดใฏใ€ๅ…ˆ่กŒ็—‡็Šถใจใ—ใฆๆฐ—็ฎกๆ”ฏ็‚Žๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒใฟใ‚‰ใ‚Œใ€ๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ่ก€็ฎก็‚Žใ‚’็”Ÿใ˜ใ€ๆœซๆขข็ฅž็ตŒ็‚Žใ€็ดซๆ–‘ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜ใ€่„ณๆข—ๅกžใƒป่„ณๅ‡บ่ก€ใƒปๅฟƒ็ญ‹ๆข—ๅกžใƒปๅฟƒๅค–่†œ็‚Žใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚30๏ฝž60ๆญณใฎๅฅณๆ€งใซๅฅฝ็™บใ—ใ€็”ท๏ผšๅฅณ๏ผ๏ผ”๏ผš๏ผ–ใงใ‚„ใ‚„ๅฅณๆ€งใซๅคšใ„ใ€‚ใ€€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๅนด้–“ๆ–ฐ่ฆๆ‚ฃ่€…ๆ•ฐใฏใ€็ด„100ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅนด้–“ใฎๅŒป็™‚ๆ–ฝ่จญๅ—่จบ่€…ใฏใ€็ด„1,800ไพ‹ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ก€ไธญใฎๅฅฝ้…ธ็ƒๅข—ๅŠ ไปฅๅค–ใซใ€ๅฅฝ้…ธ็ƒๆ€ง็ต„็น”้šœๅฎณๅ› ๅญ๏ผˆECPใชใฉ๏ผ‰ใฎไธŠๆ˜‡ใ€IgE้ซ˜ๅ€คใชใฉใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“๏ผˆantineutrophil cytoplasmic antibody๏ผšANCA๏ผ‰ใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผˆMPO-ANCA๏ผ‰ใŒ็ด„50๏ผ…ใฎ็—‡ไพ‹ใง่ก€ๆธ…ไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚ใ€€็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใฏใ€็œŸ็šฎๅฐ่ก€็ฎกใ‚’ไธญๅฟƒใซๆ ธๅกตใ‚’ไผดใ„ใ€่ก€็ฎกๅ‘จๅ›ฒใฎๅฅฝไธญ็ƒใจ่‘—ๆ˜Žใชๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹็ดฐๅฐ่ก€็ฎกใฎ่‚‰่Šฝ่…ซๆ€งใ‚ใ‚‹ใ„ใฏใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚คใƒ‰ๅค‰ๆ€งใ‚’ไผดใ†ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚„็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Ž๏ผˆleukocytoclastic vasculitis๏ผ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซใ€่ก€็ฎกๅค–ใซ่‚‰่Šฝ่…ซๅฝขๆˆใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ€‚่จบๆ–ญใฏๅพŒ่ฟฐใฎ่จบๆ–ญๅŸบๆบ–ใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€(๏ผ‘)ๅ…ˆ่กŒใ™ใ‚‹ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚ใ‚‹ใ„ใฏใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใ€(๏ผ’)่ก€ไธญใฎๅฅฝ้…ธ็ƒใฎๅข—ๅŠ ใ€(๏ผ“)ๅ‰้ …ใซใ‚ใ‚‹่ก€็ฎก็‚Ž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ใ•ใ‚‰ใซ็—…็†็ต„็น”ๆ‰€่ฆ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ็ขบๅฎŸใซใชใ‚‹ใ€‚ๅ‚่€ƒๆ‰€่ฆ‹ใจใ—ใฆใ€่ก€ๆฒˆไบข้€ฒใ€่ก€ๅฐๆฟๅข—ๅŠ ใ€IgE้ซ˜ๅ€คใ€่ก€ๆธ…MPO-ANCA๏ผˆp-ANCA๏ผ‰้™ฝๆ€งใชใฉใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200264" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Eosinophilic granulomatosis with polyangiitis"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Allergic granulomatous angiitis"@en, "Churg Strauss syndrome"@en, "EGPA"@en, "ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž"@ja, "ใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0015943 ; skos:prefLabel "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . -:1200265 - :hasNotificationNumber "46" ; - terms:description "ๆ—ขๅญ˜ใฎ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ๏ผˆrheumatic arthritis๏ผšRA๏ผ‰ใซใ€่ก€็ฎก็‚Žใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹้–ข็ฏ€ๅค–็—‡็Šถใ‚’่ชใ‚ใ€้›ฃๆฒปๆ€งๅˆใฏ้‡็—‡ใช่‡จๅบŠ็—…ๆ…‹ใ‚’ไผดใ†ๅ ดๅˆใซใ€ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใ„ใ†ใ€‚ๅ†…่‡“้šœๅฎณใŒใชใใ€้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ้–ข็ฏ€็—…ๅค‰ใŒ้€ฒ่กŒใ—ใฆ้–ข็ฏ€ใฎๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใฆ่บซไฝ“้šœๅฎณใŒใ‚‚ใŸใ‚‰ใ•ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใฏใ„ใ‚ใชใ„ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ’ใงใ‚ใ‚‹ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ่ก€็ฎก็‚Žใฏ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽใจๅŒๆง˜ใชๅ…จ่บซๆ€งๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ†…่‡“ใ‚’็ณป็ตฑ็š„ใซไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏ๏ผ‰ใจๅ†…่†œใฎ็ทš็ถญๆ€งๅข—ๆฎ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆœซๆขขๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ››่‚ขๆœซๆขขๅŠใณ็šฎ่†šใ‚’ไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏๅฅฝ๏ผ‰ใฎ๏ผ’ใคใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่ก€็ฎก็‚Žไปฅๅค–ใฎ่‡“ๅ™จ็—‡็Šถใจใ—ใฆใฏใ€้–“่ณชๆ€ง่‚บ็‚Žใ‚’็”Ÿใ˜ใ‚‹ใจ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200265" ; - terms:source ; - a owl:Class ; - rdfs:label "Malignant Rheumatoid Arthritis"@en, "ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Rheumatoid arthritis with vasculitis"@en ; + + nando:hasNotificationNumber "46" ; + dcterms:description "ๆ—ขๅญ˜ใฎ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ๏ผˆrheumatic arthritis๏ผšRA๏ผ‰ใซใ€่ก€็ฎก็‚Žใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹้–ข็ฏ€ๅค–็—‡็Šถใ‚’่ชใ‚ใ€้›ฃๆฒปๆ€งๅˆใฏ้‡็—‡ใช่‡จๅบŠ็—…ๆ…‹ใ‚’ไผดใ†ๅ ดๅˆใซใ€ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใ„ใ†ใ€‚ๅ†…่‡“้šœๅฎณใŒใชใใ€้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ้–ข็ฏ€็—…ๅค‰ใŒ้€ฒ่กŒใ—ใฆ้–ข็ฏ€ใฎๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใฆ่บซไฝ“้šœๅฎณใŒใ‚‚ใŸใ‚‰ใ•ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจใฏใ„ใ‚ใชใ„ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ’ใงใ‚ใ‚‹ใ€‚ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใฎ่ก€็ฎก็‚Žใฏ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽใจๅŒๆง˜ใชๅ…จ่บซๆ€งๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ†…่‡“ใ‚’็ณป็ตฑ็š„ใซไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏ๏ผ‰ใจๅ†…่†œใฎ็ทš็ถญๆ€งๅข—ๆฎ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆœซๆขขๅ‹•่„ˆ็‚Žๅž‹๏ผˆๅ››่‚ขๆœซๆขขๅŠใณ็šฎ่†šใ‚’ไพตใ—ใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏๅฅฝ๏ผ‰ใฎ๏ผ’ใคใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚่ก€็ฎก็‚Žไปฅๅค–ใฎ่‡“ๅ™จ็—‡็Šถใจใ—ใฆใฏใ€้–“่ณชๆ€ง่‚บ็‚Žใ‚’็”Ÿใ˜ใ‚‹ใจ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200265" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Rheumatoid vasculitis"@en, "ใ‚ใใ›ใ„ใ‹ใ‚“ใ›ใคใ‚Šใ†ใพใก"@ja-Hira, "ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Malignant rheumatoid arthritis"@en, "Rheumatoid arthritis with vasculitis"@en, "ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰่ก€็ฎก็‚Ž"@ja, "่ก€็ฎก็‚Žใ‚’ไผดใ†้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ"@ja ; + skos:closeMatch obo:MONDO_0043267 ; skos:prefLabel "ๆ‚ชๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒ"@ja . -:1200266 - :hasNotificationNumber "47" ; - terms:description "้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Žใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ››่‚ขใฎไธปๅนนๅ‹•่„ˆใซ้–‰ๅกžๆ€งใฎ่ก€็ฎกๅ…จๅฑค็‚Žใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซไธ‹่‚ขๅ‹•่„ˆใซๅฅฝ็™บใ—ใฆใ€่™š่ก€็—‡็Šถใจใ—ใฆ้–“ๆฌ ๆ€ง่ท›่กŒใ‚„ๅฎ‰้™ๆ™‚็–ผ็—›ใ€่™š่ก€ๆ€ง็šฎ่†šๆฝฐ็˜ใ€ๅฃŠ็–ฝ๏ผˆ็‰น็™บๆ€ง่„ฑ็–ฝใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’ๆฅใ™ใ€‚ใพใŸใ€ใ—ใฐใ—ใฐ่กจๅœจ้™่„ˆใซใ‚‚็‚Ž็—‡ใ‚’ๆฅใ—๏ผˆ้Š่ตฐๆ€ง้™่„ˆ็‚Ž๏ผ‰ใ€ใพใ‚Œใซๅคงๅ‹•่„ˆใ‚„ๅ†…่‡“ๅ‹•้™่„ˆใซใ‚‚็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ๅพ“ๅ‰ใ€Œใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…ใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚"@ja ; - terms:identifier "1200266" ; - terms:source ; - a owl:Class ; - rdfs:label "Buerger's Disease"@en, "ใƒใƒผใ‚ธใƒฃใƒผ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Thromboangiitis obliterans"@en ; - skos:closeMatch mondo:MONDO_0008889 ; + + nando:hasNotificationNumber "47" ; + dcterms:description "้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Žใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ››่‚ขใฎไธปๅนนๅ‹•่„ˆใซ้–‰ๅกžๆ€งใฎ่ก€็ฎกๅ…จๅฑค็‚Žใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซไธ‹่‚ขๅ‹•่„ˆใซๅฅฝ็™บใ—ใฆใ€่™š่ก€็—‡็Šถใจใ—ใฆ้–“ๆฌ ๆ€ง่ท›่กŒใ‚„ๅฎ‰้™ๆ™‚็–ผ็—›ใ€่™š่ก€ๆ€ง็šฎ่†šๆฝฐ็˜ใ€ๅฃŠ็–ฝ๏ผˆ็‰น็™บๆ€ง่„ฑ็–ฝใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’ๆฅใ™ใ€‚ใพใŸใ€ใ—ใฐใ—ใฐ่กจๅœจ้™่„ˆใซใ‚‚็‚Ž็—‡ใ‚’ๆฅใ—๏ผˆ้Š่ตฐๆ€ง้™่„ˆ็‚Ž๏ผ‰ใ€ใพใ‚Œใซๅคงๅ‹•่„ˆใ‚„ๅ†…่‡“ๅ‹•้™่„ˆใซใ‚‚็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ๅพ“ๅ‰ใ€Œใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…ใ€ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200266" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Buerger's disease"@en, "ใฐใƒผใ˜ใ‚ƒใƒผใณใ‚‡ใ†"@ja-Hira, "ใƒใƒผใ‚ธใƒฃใƒผ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "TAO"@en, "Thromboangiitis obliterans"@en, "ใƒ“ใƒฅใƒซใ‚ฌใƒผ็—…"@ja, "้–‰ๅกžๆ€ง่ก€ๆ “่ก€็ฎก็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0008889 ; skos:prefLabel "ใƒใƒผใ‚ธใƒฃใƒผ็—…"@ja . -:1200267 - :hasNotificationNumber "48" ; - terms:description "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใซใฏใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaCL๏ผ‰ใ€ใƒซใƒผใƒ—ใ‚นๆŠ—ๅ‡ๅ›บๅ› ๅญ๏ผˆLAC๏ผ‰ใ€ใƒฏใƒƒใ‚ปใƒซใƒžใƒณๅๅฟœ๏ผˆSTS๏ผ‰ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฎๆŠ—ไฝ“ใ‚’ๆœ‰ใ—ใ€่‡จๅบŠ็š„ใซๅ‹•๏ฝฅ้™่„ˆใฎ่ก€ๆ “็—‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€็ฟ’ๆ…ฃๆต็”ฃ๏ฝฅๆญป็”ฃ๏ฝฅๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใชใฉใ‚’ใฟใ‚‹ๅ ดๅˆใซๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆAPS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๅง‹ใ‚ใจใ™ใ‚‹่† ๅŽŸ็—…ใ‚„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒ๏ผˆ็ถš็™บๆ€ง๏ผ‰ใ€ๅŽŸ็™บๆ€งAPSใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใพใŸใ€ๅคš่‡“ๅ™จๆข—ๅกžใ‚’ๅŒๆ™‚ใซใฟใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๆ…‹ใฏใ€ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆcatastrophicใ€€APS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200267" ; - terms:source ; - a owl:Class ; - rdfs:label "Antiphospholipid Antibody Syndrome"@en, "ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Antiphospholipid syndrome"@en ; - skos:closeMatch mondo:MONDO_0007140 ; + + nando:hasNotificationNumber "48" ; + dcterms:description "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใซใฏใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaCL๏ผ‰ใ€ใƒซใƒผใƒ—ใ‚นๆŠ—ๅ‡ๅ›บๅ› ๅญ๏ผˆLAC๏ผ‰ใ€ใƒฏใƒƒใ‚ปใƒซใƒžใƒณๅๅฟœ๏ผˆSTS๏ผ‰ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฎๆŠ—ไฝ“ใ‚’ๆœ‰ใ—ใ€่‡จๅบŠ็š„ใซๅ‹•๏ฝฅ้™่„ˆใฎ่ก€ๆ “็—‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€็ฟ’ๆ…ฃๆต็”ฃ๏ฝฅๆญป็”ฃ๏ฝฅๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใชใฉใ‚’ใฟใ‚‹ๅ ดๅˆใซๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆAPS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๅง‹ใ‚ใจใ™ใ‚‹่† ๅŽŸ็—…ใ‚„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒ๏ผˆ็ถš็™บๆ€ง๏ผ‰ใ€ๅŽŸ็™บๆ€งAPSใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใพใŸใ€ๅคš่‡“ๅ™จๆข—ๅกžใ‚’ๅŒๆ™‚ใซใฟใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๆ…‹ใฏใ€ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค๏ผˆcatastrophicใ€€APS๏ผ‰ใจ็งฐใ›ใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200267" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary antiphospholipid antibody syndrome"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Primary APS"@en, "Primary antiphospholipid syndrome"@en, "ๅŽŸ็™บๆ€งAPS"@ja ; + skos:closeMatch obo:MONDO_0005204 ; skos:prefLabel "ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja . -:1200268 - :hasNotificationNumber "48" ; - terms:identifier "1200268" ; - terms:source ; - a owl:Class ; - rdfs:label "Thrombotic Antiphospholipid Syndrome"@en, "ๅ‹•้™่„ˆ่ก€ๆ “็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅ‹•้™่„ˆ่ก€ๆ “็—‡"@ja . - -:1200269 - :hasNotificationNumber "48" ; - terms:identifier "1200269" ; - terms:source ; - a owl:Class ; - rdfs:label "Antiphospholipid Syndromeย andย Pregnancy"@en, "ๅฆŠๅจ ๅˆไฝต็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅฆŠๅจ ๅˆไฝต็—‡"@ja . - -:1200270 - :hasNotificationNumber "48" ; - terms:identifier "1200270" ; - terms:source ; - a owl:Class ; - rdfs:label "Catastrophic antiphospholipid syndrome"@en, "ๅŠ‡็—‡ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018737 ; - skos:prefLabel "ๅŠ‡็—‡ๅž‹"@ja . - -:1200271 - :hasNotificationNumber "48" ; - terms:identifier "1200271" ; - terms:source ; - a owl:Class ; - rdfs:label "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200272 - :hasNotificationNumber "49" ; - terms:description "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใฏDNA๏ผๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200272" ; - terms:source ; - a owl:Class ; - rdfs:label "Systemic lupus erythematosus"@en, "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007915 ; + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:1200268" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Arterial thrombosis in antiphospholipid syndrome"@en, "ใฉใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†ใ‚’ใ‚†ใ†ใ™ใ‚‹ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ‹•่„ˆ่ก€ๆ “็—‡ใ‚’ๆœ‰ใ™ใ‚‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๅ‹•่„ˆ่ก€ๆ “็—‡ใ‚’ๆœ‰ใ™ใ‚‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:1200269" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antiphospholipid antibody syndrome during pregnancy"@en, "ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใŒใฃใบใ„ใซใ‚“ใ—ใ‚“"@ja-Hira, "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคๅˆไฝตๅฆŠๅจ "@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคๅˆไฝตๅฆŠๅจ "@ja . + + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:1200270" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Catastrophic antiphospholipid syndrome"@en, "ใ’ใใ—ใ‚‡ใ†ใŒใŸใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅŠ‡็—‡ๅž‹ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅŠ‡็—‡ๅž‹APS"@ja ; + skos:closeMatch obo:MONDO_0018737 ; + skos:prefLabel "ๅŠ‡็—‡ๅž‹ๅŽŸ็™บๆ€งๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:1200271" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antiphospholipid antibody-related disease"@en, "ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007140 ; + skos:prefLabel "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“้–ข้€ฃ็–พๆ‚ฃ"@ja . + + + nando:hasNotificationNumber "49" ; + dcterms:description "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใฏDNA๏ผๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200272" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Systemic lupus erythematosus"@en, "ใœใ‚“ใ—ใ‚“ใ›ใ„ใˆใ‚Šใฆใพใจใƒผใงใ™"@ja-Hira, "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007915 ; skos:prefLabel "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น"@ja . -:1200273 - :hasNotificationNumber "50" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€งใฎ็‚Ž็—‡ๆ€ง็ญ‹็–พๆ‚ฃใงใ€ไธปใซไฝ“ๅนนใ‚„ๅ››่‚ข่ฟ‘ไฝ็ญ‹ใ€้ ธ็ญ‹ใ€ๅ’ฝ้ ญ็ญ‹ใชใฉใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๅ…ธๅž‹็š„ใช็šฎ็–นใ‚’ไผดใ†ใ‚‚ใฎใฏใ€็šฎ่†š็ญ‹็‚Žใจๅ‘ผใถใ€‚็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ญ‹็ต„็น”ใ‚„็šฎ่†š็ต„็น”ใซๅฏพใ™ใ‚‹่‡ชๅทฑๅ…็–ซใงใ‚ใ‚‹ใŒใ€ๅ…จใฆใฎ็ญ‹๏ฝฅ็šฎ่†š็ต„็น”ใŒๅ†’ใ•ใ‚Œใ‚‹ใ‚ใ‘ใงใฏใชใใ€็‰นใซ็šฎ่†š็—‡็Šถใงใฏใ€็‰นๅพด็š„้ƒจไฝใซ็šฎ็–นใŒๅ‡บใ‚„ใ™ใ„ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ไธŠใ€็ญ‹็ต„็น”ๅดฉๅฃŠใ‚’ๅๆ˜ ใ—ใฆใ€็ญ‹ๅŽŸๆ€ง้…ต็ด ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใปใ‹ใ€ไป–ใฎ่† ๅŽŸ็—…ใจๅŒๆง˜ใซ้ซ˜ฮณใ‚ฐใƒญใƒ—ใƒชใƒณ่ก€็—‡ใ‚„่‡ชๅทฑๆŠ—ไฝ“ใ‚’่ชใ‚ใ‚‹ใ€‚2009ๅนดใฎ่‡จๅบŠ่ชฟๆŸปๅ€‹ไบบ็ฅจใฎ่งฃๆž็ตๆžœใซใ‚ˆใ‚Œใฐใ€ๅคš็™บๆ€ง็ญ‹็‚Ž๏ผˆpolymyositis๏ผšPM๏ผ‰ใƒป็šฎ่†š็ญ‹็‚Ž๏ผˆdermatomyositis๏ผšDM๏ผ‰ใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏใปใผๅŒๆ•ฐใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ“ใงใ€็™บ็—‡ใƒ”ใƒผใ‚ฏใฏ๏ผ•๏ฝž๏ผ™ๆญณใจ50ๆญณไปฃใซใ‚ใฃใŸใ€‚"@ja ; - terms:identifier "1200273" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€งใฎ็‚Ž็—‡ๆ€ง็ญ‹็–พๆ‚ฃใงใ€ไธปใซไฝ“ๅนนใ‚„ๅ››่‚ข่ฟ‘ไฝ็ญ‹ใ€้ ธ็ญ‹ใ€ๅ’ฝ้ ญ็ญ‹ใชใฉใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๅ…ธๅž‹็š„ใช็šฎ็–นใ‚’ไผดใ†ใ‚‚ใฎใฏใ€็šฎ่†š็ญ‹็‚Žใจๅ‘ผใถใ€‚็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ญ‹็ต„็น”ใ‚„็šฎ่†š็ต„็น”ใซๅฏพใ™ใ‚‹่‡ชๅทฑๅ…็–ซใงใ‚ใ‚‹ใŒใ€ๅ…จใฆใฎ็ญ‹๏ฝฅ็šฎ่†š็ต„็น”ใŒๅ†’ใ•ใ‚Œใ‚‹ใ‚ใ‘ใงใฏใชใใ€็‰นใซ็šฎ่†š็—‡็Šถใงใฏใ€็‰นๅพด็š„้ƒจไฝใซ็šฎ็–นใŒๅ‡บใ‚„ใ™ใ„ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ไธŠใ€็ญ‹็ต„็น”ๅดฉๅฃŠใ‚’ๅๆ˜ ใ—ใฆใ€็ญ‹ๅŽŸๆ€ง้…ต็ด ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใปใ‹ใ€ไป–ใฎ่† ๅŽŸ็—…ใจๅŒๆง˜ใซ้ซ˜ฮณใ‚ฐใƒญใƒ—ใƒชใƒณ่ก€็—‡ใ‚„่‡ชๅทฑๆŠ—ไฝ“ใ‚’่ชใ‚ใ‚‹ใ€‚2009ๅนดใฎ่‡จๅบŠ่ชฟๆŸปๅ€‹ไบบ็ฅจใฎ่งฃๆž็ตๆžœใซใ‚ˆใ‚Œใฐใ€ๅคš็™บๆ€ง็ญ‹็‚Ž๏ผˆpolymyositis๏ผšPM๏ผ‰ใƒป็šฎ่†š็ญ‹็‚Ž๏ผˆdermatomyositis๏ผšDM๏ผ‰ใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏใปใผๅŒๆ•ฐใงใ€็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš๏ผ“ใงใ€็™บ็—‡ใƒ”ใƒผใ‚ฏใฏ๏ผ•๏ฝž๏ผ™ๆญณใจ50ๆญณไปฃใซใ‚ใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200273" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dermatomyositis/Polymyositis"@en, "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Dermatomyositis/Polymyositis"@en, "ใฒใตใใ‚“ใˆใ‚“๏ผใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“"@ja-Hira, "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "DM/PM"@en ; skos:prefLabel "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž"@ja . -:1200274 - :hasNotificationNumber "50" ; - terms:identifier "1200274" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:identifier "NANDO:1200274" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dermatomyositis"@en, "็šฎ่†š็ญ‹็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016367 ; + rdfs:label "Dermatomyositis"@en, "ใฒใตใใ‚“ใˆใ‚“"@ja-Hira, "็šฎ่†š็ญ‹็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016367 ; skos:prefLabel "็šฎ่†š็ญ‹็‚Ž"@ja . -:1200275 - :hasNotificationNumber "50" ; - terms:identifier "1200275" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:identifier "NANDO:1200275" ; + dcterms:source ; a owl:Class ; - rdfs:label "amyopathic dermatomyositis"@en, "็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016367, mondo:MONDO_0043317 ; + rdfs:label "Amyopathic dermatomyositis"@en, "ใ‚€ใใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใฒใตใใ‚“ใˆใ‚“"@ja-Hira, "็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ADM"@en ; + skos:closeMatch obo:MONDO_0043317 ; skos:prefLabel "็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž"@ja . -:1200276 - :hasNotificationNumber "50" ; - terms:identifier "1200276" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:identifier "NANDO:1200276" ; + dcterms:source ; a owl:Class ; - rdfs:label "Polymyositis"@en, "ๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019127 ; + rdfs:label "Polymyositis"@en, "ใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“"@ja-Hira, "ๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019127 ; skos:prefLabel "ๅคš็™บๆ€ง็ญ‹็‚Ž"@ja . -:1200277 - :hasNotificationNumber "51" ; - terms:description "ๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSystemic sclerosis๏ผšSSc๏ผ‰ใฏใ€็šฎ่†šใ‚„ๅ†…่‡“ใŒ็กฌใใชใ‚‹ๅค‰ๅŒ–๏ผˆ็กฌๅŒ–ใจใ„ใ†ใ€‚๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆๆง˜ใ€…ใงใ‚ใ‚‹็‚นใซๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ“ใฎ่ฆณ็‚นใ‹ใ‚‰ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ๏ผ’ใคใซๅˆ†ใ‘ใ‚‹ๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใคใพใ‚Šใ€ๅ…ธๅž‹็š„ใช็—‡็Šถใ‚’็คบใ™ใ€Œใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใซๅˆ†ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰่€…ใฏ็™บ็—‡ใ‚ˆใ‚Š๏ผ•๏ฝž๏ผ–ๅนดไปฅๅ†…ใฏ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅพŒ่€…ใฎ่ปฝ็—‡ๅž‹ใงใฏ้€ฒ่กŒใฏใปใจใ‚“ใฉใชใ„ใ‹ใ€ใ‚ใ‚‹ใ„ใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ใชใŠใ€ใ€Œ้™ๅฑ€ๆ€งๅผท็šฎ็—‡ใ€ใฏ็šฎ่†šใฎใฟใซ็กฌๅŒ–ใŒ่ตทใ“ใ‚‹ๅ…จใๅˆฅใฎ็—…ๆฐ—ใงใ‚ใ‚Šใ€ๅ‰่ฟฐใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใฏๅ…จใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200277" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSystemic sclerosis๏ผšSSc๏ผ‰ใฏใ€็šฎ่†šใ‚„ๅ†…่‡“ใŒ็กฌใใชใ‚‹ๅค‰ๅŒ–๏ผˆ็กฌๅŒ–ใจใ„ใ†ใ€‚๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆๆง˜ใ€…ใงใ‚ใ‚‹็‚นใซๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ“ใฎ่ฆณ็‚นใ‹ใ‚‰ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ๏ผ’ใคใซๅˆ†ใ‘ใ‚‹ๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใคใพใ‚Šใ€ๅ…ธๅž‹็š„ใช็—‡็Šถใ‚’็คบใ™ใ€Œใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใซๅˆ†ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰่€…ใฏ็™บ็—‡ใ‚ˆใ‚Š๏ผ•๏ฝž๏ผ–ๅนดไปฅๅ†…ใฏ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅพŒ่€…ใฎ่ปฝ็—‡ๅž‹ใงใฏ้€ฒ่กŒใฏใปใจใ‚“ใฉใชใ„ใ‹ใ€ใ‚ใ‚‹ใ„ใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ใชใŠใ€ใ€Œ้™ๅฑ€ๆ€งๅผท็šฎ็—‡ใ€ใฏ็šฎ่†šใฎใฟใซ็กฌๅŒ–ใŒ่ตทใ“ใ‚‹ๅ…จใๅˆฅใฎ็—…ๆฐ—ใงใ‚ใ‚Šใ€ๅ‰่ฟฐใฎใ€Œ้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ€ใจใฏๅ…จใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200277" ; + dcterms:source ; a owl:Class ; - rdfs:label "Systemic Sclerosis"@en, "ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Systemic sclerosis"@en, "ใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†"@ja-Hira, "ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Systemic scleroderma"@en ; - skos:closeMatch mondo:MONDO_0005100 ; + skos:closeMatch obo:MONDO_0005100 ; skos:prefLabel "ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja . -:1200278 - :hasNotificationNumber "52" ; - terms:description "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…๏ผˆmixed connective tissue disease๏ผšMCTD๏ผ‰ใฏ่† ๅŽŸ็—…้‡่ค‡็—‡ๅ€™็พคใฎไธญใฎไธ€็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€ไปฅไธ‹ใฎไบŒใคใฎ็‰นๅพดใ‚’ๆŒใคๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ๅŠใณๅคš็™บๆ€ง็ญ‹็‚Žใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใŒใ€ๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌไบŒใฏใ€่ก€ๆธ…ไธญใซๆŠ—U1-RNP๏ผˆribonucleoprotein๏ผ‰ๆŠ—ไฝ“ใŒใ€้ซ˜ใ„ๆŠ—ไฝ“ไพกใงๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200278" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:description "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…๏ผˆmixed connective tissue disease๏ผšMCTD๏ผ‰ใฏ่† ๅŽŸ็—…้‡่ค‡็—‡ๅ€™็พคใฎไธญใฎไธ€็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€ไปฅไธ‹ใฎไบŒใคใฎ็‰นๅพดใ‚’ๆŒใคๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใ€ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ๅŠใณๅคš็™บๆ€ง็ญ‹็‚Žใ‚’ๆ€ใ‚ใ›ใ‚‹่‡จๅบŠๆ‰€่ฆ‹ใŒใ€ๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌไบŒใฏใ€่ก€ๆธ…ไธญใซๆŠ—U1-RNP๏ผˆribonucleoprotein๏ผ‰ๆŠ—ไฝ“ใŒใ€้ซ˜ใ„ๆŠ—ไฝ“ไพกใงๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200278" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mixed connective tissue disease"@en, "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005854 ; + rdfs:label "Mixed connective tissue disease"@en, "ใ“ใ‚“ใ”ใ†ใ›ใ„ใ‘ใคใ”ใ†ใใ—ใใณใ‚‡ใ†"@ja-Hira, "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MCTD"@en ; + skos:closeMatch obo:MONDO_0005854 ; skos:prefLabel "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…"@ja . -:1200279 - :hasNotificationNumber "53" ; - terms:description "ๆ…ขๆ€งๅ”พๆถฒ่…บ็‚Žใจไนพ็‡ฅๆ€ง่ง’็ต่†œ็‚Žใ‚’ไธปๅพดใจใ—ใ€ๅคšๅฝฉใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ไนพ็‡ฅ็—‡ใŒไธป็—‡็Šถใจใชใ‚‹ใŒใ€ๅ”พๆถฒ่…บใ€ๆถ™่…บใ ใ‘ใงใชใใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€autoimmune exocrinopathyใจใ‚‚็งฐใ•ใ‚Œใ‚‹ใ€‚ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏไป–ใฎ่† ๅŽŸ็—…ใฎๅˆไฝตใŒใฟใ‚‰ใ‚Œใชใ„ไธ€ๆฌกๆ€งใจ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใ‚„ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใชใฉใฎ่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไบŒๆฌกๆ€งใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€็—…ๅค‰ใŒๆถ™่…บใ€ๅ”พๆถฒ่…บใซ้™ๅฑ€ใ™ใ‚‹่…บๅž‹ใจ็—…ๅค‰ใŒๅ…จ่บซ่ซธ่‡“ๅ™จใซๅŠใถ่…บๅค–ๅž‹ใจใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๆง˜ใ€…ใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„่‡“ๅ™จใซๆตธๆฝคใ—ใŸ่‡ชๅทฑๅๅฟœๆ€งใƒชใƒณใƒ‘็ƒใฎๅญ˜ๅœจใซใ‚ˆใ‚Šใ€่‡ชๅทฑๅ…็–ซๅฟœ็ญ”ใŒใใฎ็—…ๅ› ใจใ—ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒใƒชใ‚ฏใƒญใƒผใƒŠใƒซใช้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใปใ‹ใ€ๆŠ—ๆ ธๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญใ€ๆŠ—SSโ€AๆŠ—ไฝ“ใ€ๆŠ—SSโ€BๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใŒๅ‡บ็พใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200279" ; - terms:source ; - a owl:Class ; - rdfs:label "Sjogren's Syndrome"@en, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Sjogren syndrome"@en ; - skos:closeMatch mondo:MONDO_0010030 ; + + nando:hasNotificationNumber "53" ; + dcterms:description "ๆ…ขๆ€งๅ”พๆถฒ่…บ็‚Žใจไนพ็‡ฅๆ€ง่ง’็ต่†œ็‚Žใ‚’ไธปๅพดใจใ—ใ€ๅคšๅฝฉใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ไนพ็‡ฅ็—‡ใŒไธป็—‡็Šถใจใชใ‚‹ใŒใ€ๅ”พๆถฒ่…บใ€ๆถ™่…บใ ใ‘ใงใชใใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€autoimmune exocrinopathyใจใ‚‚็งฐใ•ใ‚Œใ‚‹ใ€‚ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏไป–ใฎ่† ๅŽŸ็—…ใฎๅˆไฝตใŒใฟใ‚‰ใ‚Œใชใ„ไธ€ๆฌกๆ€งใจ้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใ‚„ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นใชใฉใฎ่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไบŒๆฌกๆ€งใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€็—…ๅค‰ใŒๆถ™่…บใ€ๅ”พๆถฒ่…บใซ้™ๅฑ€ใ™ใ‚‹่…บๅž‹ใจ็—…ๅค‰ใŒๅ…จ่บซ่ซธ่‡“ๅ™จใซๅŠใถ่…บๅค–ๅž‹ใจใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๆง˜ใ€…ใช่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚„่‡“ๅ™จใซๆตธๆฝคใ—ใŸ่‡ชๅทฑๅๅฟœๆ€งใƒชใƒณใƒ‘็ƒใฎๅญ˜ๅœจใซใ‚ˆใ‚Šใ€่‡ชๅทฑๅ…็–ซๅฟœ็ญ”ใŒใใฎ็—…ๅ› ใจใ—ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒใƒชใ‚ฏใƒญใƒผใƒŠใƒซใช้ซ˜ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใปใ‹ใ€ๆŠ—ๆ ธๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญใ€ๆŠ—SSโ€AๆŠ—ไฝ“ใ€ๆŠ—SSโ€BๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใŒๅ‡บ็พใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200279" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sjogren's syndrome"@en, "ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Sjogren syndrome"@en, "Sjogren็—‡ๅ€™็พค"@ja, "Sjรถgren's syndrome"@en ; + skos:closeMatch obo:MONDO_0010030 ; skos:prefLabel "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja . -:1200280 - :hasNotificationNumber "53" ; - terms:identifier "1200280" ; - terms:source ; + + nando:hasNotificationNumber "53" ; + dcterms:identifier "NANDO:1200280" ; + dcterms:source ; a owl:Class ; - rdfs:label "Primary Sjogren syndrome"@en, "ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Primary Sjogren's syndrome"@en, "ใ„ใกใ˜ใ›ใ„ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Primary Sjogren syndrome"@en, "ไธ€ๆฌกๆ€งSjogren็—‡ๅ€™็พค"@ja, "ๅŽŸ็™บๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010030 ; skos:prefLabel "ไธ€ๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja . -:1200281 - :hasNotificationNumber "53" ; - terms:identifier "1200281" ; - terms:source ; + + nando:hasNotificationNumber "53" ; + dcterms:identifier "NANDO:1200281" ; + dcterms:source ; a owl:Class ; - rdfs:label "Secondary Sjogren Syndrome"@en, "ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Secondary Sjogren's syndrome"@en, "ใซใ˜ใ›ใ„ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Secondary Sjogren syndrome"@en ; skos:prefLabel "ไบŒๆฌกๆ€งใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja . -:1200282 - :hasNotificationNumber "54" ; - terms:description "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis๏ผ‰ใฎใ†ใกๅ…จ่บซๅž‹ใฏใ€ๅฐๅ…ใฎ็†ฑๆ€ง็–พๆ‚ฃใจใ—ใฆStill๏ผˆ1897๏ผ‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚ŒใŸใ‚นใƒใƒซ็—…ใจๅŒใ˜ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚นใƒใƒซ็—…ใซใฏๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ€Bywaters๏ผˆ1971๏ผ‰ใฎๅ ฑๅ‘Šไปฅๆฅ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚16ๆญณไปฅไธŠใ‚’ๆˆไบบใจใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใจ็—…ๅƒใฏๅŒๆง˜ใ€ๆฒป็™‚ๆ–น้‡ใ‚‚ๅŒใ˜ใงใ‚ใ‚‹ใ€‚ๅฐๅ…็™บ็—‡ใงๆˆไบบใพใง้ทๅปถใ—ใŸไพ‹ใจๅˆใ‚ใ›ใฆๆˆไบบใ‚นใƒใƒซ็—…ใจๅ‘ผใฐใ‚Œใ€ๆœฌ้‚ฆ้›†่จˆใงๆˆไบบไพ‹ใฎ88๏ผ…ใŒๆˆไบบ็™บ็—‡ๅž‹ใงใ‚ใฃใŸใ€‚ๆˆไบบไพ‹ใฎ็™บ็—‡ๅนด้ฝขใฏใ€ๆœฌ้‚ฆ้›†่จˆใง20ๆญณๅ‰ๅพŒใ‚’ใƒ”ใƒผใ‚ฏใซๅนด้ฝขใจใจใ‚‚ใซ้›†่จˆๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€๏ผ–ๅ‰ฒใฏ16๏ฝž35ๆญณใซๅˆ†ๅธƒใ—ใ€ๅฅณๆ€งใŒ็”ทๆ€งใฎ๏ผ’ๅ€ใงใ‚ใ‚‹ใ€‚้ซ˜ๅนด้ฝขใงใฏๅฅณๆ€งใซๅใ‚Šใ€็จ€ใซ80ๆญณไปฃใฎ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200282" ; - terms:source ; - a owl:Class ; - rdfs:label "Adult-Still's Disease"@en, "ๆˆไบบใ‚นใƒใƒซ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Adult still disease"@en ; - skos:closeMatch mondo:MONDO_0019355 ; + + nando:hasNotificationNumber "54" ; + dcterms:description "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis๏ผ‰ใฎใ†ใกๅ…จ่บซๅž‹ใฏใ€ๅฐๅ…ใฎ็†ฑๆ€ง็–พๆ‚ฃใจใ—ใฆStill๏ผˆ1897๏ผ‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚ŒใŸใ‚นใƒใƒซ็—…ใจๅŒใ˜ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚นใƒใƒซ็—…ใซใฏๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ€Bywaters๏ผˆ1971๏ผ‰ใฎๅ ฑๅ‘Šไปฅๆฅ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚16ๆญณไปฅไธŠใ‚’ๆˆไบบใจใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใจ็—…ๅƒใฏๅŒๆง˜ใ€ๆฒป็™‚ๆ–น้‡ใ‚‚ๅŒใ˜ใงใ‚ใ‚‹ใ€‚ๅฐๅ…็™บ็—‡ใงๆˆไบบใพใง้ทๅปถใ—ใŸไพ‹ใจๅˆใ‚ใ›ใฆๆˆไบบใ‚นใƒใƒซ็—…ใจๅ‘ผใฐใ‚Œใ€ๆœฌ้‚ฆ้›†่จˆใงๆˆไบบไพ‹ใฎ88๏ผ…ใŒๆˆไบบ็™บ็—‡ๅž‹ใงใ‚ใฃใŸใ€‚ๆˆไบบไพ‹ใฎ็™บ็—‡ๅนด้ฝขใฏใ€ๆœฌ้‚ฆ้›†่จˆใง20ๆญณๅ‰ๅพŒใ‚’ใƒ”ใƒผใ‚ฏใซๅนด้ฝขใจใจใ‚‚ใซ้›†่จˆๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€๏ผ–ๅ‰ฒใฏ16๏ฝž35ๆญณใซๅˆ†ๅธƒใ—ใ€ๅฅณๆ€งใŒ็”ทๆ€งใฎ๏ผ’ๅ€ใงใ‚ใ‚‹ใ€‚้ซ˜ๅนด้ฝขใงใฏๅฅณๆ€งใซๅใ‚Šใ€็จ€ใซ80ๆญณไปฃใฎ็™บ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200282" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult Still's disease"@en, "ใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ๆˆไบบใ‚นใƒใƒซ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AOSD"@en, "Adult Still disease"@en, "Adult-onset Still disease"@en, "ๆˆไบบStill็—…"@ja ; + skos:closeMatch obo:MONDO_0019355 ; skos:prefLabel "ๆˆไบบใ‚นใƒใƒซ็—…"@ja . -:1200283 - :hasNotificationNumber "55" ; - terms:description "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆrelapsing polychondritis๏ผšRP๏ผ‰ใฏใ€ๅ…จ่บซใฎ่ปŸ้ชจ็ต„็น”็‰น็•ฐ็š„ใซๆ…ขๆ€งใ‹ใคๅ†็™บๆ€งใฎ็‚Ž็—‡ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200283" ; - terms:source ; - a owl:Class ; - rdfs:label "Relapsing polychondritis"@en, "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019125 ; + + nando:hasNotificationNumber "55" ; + dcterms:description "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆrelapsing polychondritis๏ผšRP๏ผ‰ใฏใ€ๅ…จ่บซใฎ่ปŸ้ชจ็ต„็น”็‰น็•ฐ็š„ใซๆ…ขๆ€งใ‹ใคๅ†็™บๆ€งใฎ็‚Ž็—‡ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200283" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Relapsing polychondritis"@en, "ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“"@ja-Hira, "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "RP"@en ; + skos:closeMatch obo:MONDO_0019125 ; skos:prefLabel "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja . -:1200284 - :hasNotificationNumber "56" ; - terms:description "ๅฃ่…”็ฒ˜่†œใฎใ‚ขใƒ•ใ‚ฟๆ€งๆฝฐ็˜ใ€็šฎ่†š็—‡็Šถใ€็œผใฎใถใฉใ†่†œ็‚Žใ€ๅค–้™ฐ้ƒจๆฝฐ็˜ใ‚’ไธป็—‡็Šถใจใ—ใ€ๆ€ฅๆ€ง็‚Ž็—‡ๆ€ง็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200284" ; - terms:source ; + + nando:hasNotificationNumber "56" ; + dcterms:description "ๅฃ่…”็ฒ˜่†œใฎใ‚ขใƒ•ใ‚ฟๆ€งๆฝฐ็˜ใ€็šฎ่†š็—‡็Šถใ€็œผใฎใถใฉใ†่†œ็‚Žใ€ๅค–้™ฐ้ƒจๆฝฐ็˜ใ‚’ไธป็—‡็Šถใจใ—ใ€ๆ€ฅๆ€ง็‚Ž็—‡ๆ€ง็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200284" ; + dcterms:source ; a owl:Class ; - rdfs:label "Behcet's Disease"@en, "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Behcet's disease"@en, "ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†"@ja-Hira, "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Behcet disease"@en ; - skos:closeMatch mondo:MONDO_0007191 ; + skos:closeMatch obo:MONDO_0007191 ; skos:prefLabel "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja . -:1200285 - :hasNotificationNumber "57" ; - terms:description "ๅทฆๅฎคๅŽ็ธฎไฝŽไธ‹ใจๅทฆๅฎคๅ†…่…”ใฎๆ‹กๅผตใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ซ˜่ก€ๅœงๆ€งใ€ๅผ่†œๆ€งใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใช็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200285" ; - terms:source ; + + nando:hasNotificationNumber "57" ; + dcterms:description "ๅทฆๅฎคๅŽ็ธฎไฝŽไธ‹ใจๅทฆๅฎคๅ†…่…”ใฎๆ‹กๅผตใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ซ˜่ก€ๅœงๆ€งใ€ๅผ่†œๆ€งใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใช็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200285" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic Dilated Cardiomyopathy"@en, "็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016333 ; + rdfs:label "Idiopathic dilated cardiomyopathy"@en, "ใจใใฏใคใ›ใ„ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็‰น็™บๆ€งๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200286 - :hasNotificationNumber "58" ; - terms:description "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใจใฏใ€ๅŽŸ็™บๆ€งใฎๅฟƒๅฎค่‚ฅๅคงใ‚’ใใŸใ™ๅฟƒ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใฏใ€Œๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅคงใ‚’ไผดใ†ๅทฆๅฎคใชใ„ใ—ๅณๅฎคใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่‚ฅๅคงใ€ใจๅฎš็พฉใ•ใ‚Œใ€ๅทฆๅฎคๆ‹กๅผตๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ€Œๅทฆๅฎคๆตๅ‡บ่ทฏ้–‰ๅกžใ‚’ใใŸใ™้–‰ๅกžๆ€งใจใใŸใ•ใชใ„้ž้–‰ๅกžๆ€งใ€ใซๅˆ†้กžใ•ใ‚Œใ€ๅ‰่€…ใงใฏๅŽ็ธฎๆœŸใซๅทฆๅฎคๅ†…ๅœง่ผƒๅทฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎๅฎถๆ—ๆญดใ‚’ๆœ‰ใ™ไพ‹ใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200286" ; - terms:source ; - a owl:Class ; - rdfs:label "Hypertrophic cardiomyopathy"@en, "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005045 ; + + nando:hasNotificationNumber "58" ; + dcterms:description "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใจใฏใ€ๅŽŸ็™บๆ€งใฎๅฟƒๅฎค่‚ฅๅคงใ‚’ใใŸใ™ๅฟƒ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใฏใ€Œๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅคงใ‚’ไผดใ†ๅทฆๅฎคใชใ„ใ—ๅณๅฎคใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่‚ฅๅคงใ€ใจๅฎš็พฉใ•ใ‚Œใ€ๅทฆๅฎคๆ‹กๅผตๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ€Œๅทฆๅฎคๆตๅ‡บ่ทฏ้–‰ๅกžใ‚’ใใŸใ™้–‰ๅกžๆ€งใจใใŸใ•ใชใ„้ž้–‰ๅกžๆ€งใ€ใซๅˆ†้กžใ•ใ‚Œใ€ๅ‰่€…ใงใฏๅŽ็ธฎๆœŸใซๅทฆๅฎคๅ†…ๅœง่ผƒๅทฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ„ชๆ€งใฎๅฎถๆ—ๆญดใ‚’ๆœ‰ใ™ไพ‹ใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200286" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypertrophic cardiomyopathy"@en, "ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HCM"@en ; + skos:closeMatch obo:MONDO_0005045 ; skos:prefLabel "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200287 - :hasNotificationNumber "58" ; - terms:identifier "1200287" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:identifier "NANDO:1200287" ; + dcterms:source ; a owl:Class ; - rdfs:label "hypertrophic nonobstructive cardiomyopathy"@en, "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "HNCM"@en ; + rdfs:label "Hypertrophic non-obstructive cardiomyopathy"@en, "ใฒใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HNCM"@en, "NHCM"@en, "Non-obstructive hypertrophic cardiomyopathy"@en ; skos:prefLabel "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200288 - :hasNotificationNumber "58" ; - terms:identifier "1200288" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:identifier "NANDO:1200288" ; + dcterms:source ; a owl:Class ; - rdfs:label "hypertrophic obstructive cardiomyopathy"@en, "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Hypertrophic obstructive cardiomyopathy"@en, "ใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "HOCM"@en ; - skos:closeMatch mondo:MONDO_0005045 ; + skos:closeMatch obo:MONDO_0005045 ; skos:prefLabel "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200289 - :hasNotificationNumber "58" ; - terms:identifier "1200289" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:identifier "NANDO:1200289" ; + dcterms:source ; a owl:Class ; - rdfs:label "mid-ventricular obstruction"@en, "ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "MVO"@en ; + rdfs:label "Mid-ventricular obstructive hypertrophic cardiomyopathy"@en, "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใถใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MVOHCM"@en ; skos:prefLabel "ๅฟƒๅฎคไธญ้ƒจ้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200290 - :hasNotificationNumber "58" ; - terms:identifier "1200290" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:identifier "NANDO:1200290" ; + dcterms:source ; a owl:Class ; - rdfs:label "apical hypertrophic cardiomyopathy"@en, "ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Apical hypertrophic cardiomyopathy"@en, "ใ—ใ‚“ใ›ใ‚“ใถใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "APH"@en ; skos:prefLabel "ๅฟƒๅฐ–้ƒจ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200291 - :hasNotificationNumber "58" ; - terms:identifier "1200291" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:identifier "NANDO:1200291" ; + dcterms:source ; a owl:Class ; - rdfs:label "dilated phase of hypertrophic cardiomyopathy"@en, "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Dilated phase of hypertrophic cardiomyopathy"@en, "ใ‹ใใกใ‚‡ใ†ใใ†ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "D-HCM"@en ; skos:prefLabel "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200292 - :hasNotificationNumber "59" ; - terms:description "2005ๅนดใซ็™บ่กจใ•ใ‚ŒใŸ็‰น็™บๆ€งๅฟƒ็ญ‹็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹่จบๆ–ญใฎๆ‰‹ๅผ•ใใซใ‚ˆใ‚‹ใจใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎๅŸบๆœฌ็—…ๆ…‹ใฏๅทฆๅฟƒๅฎคๆ‹กๅผต้šœๅฎณใงใ‚ใ‚Šใ€๏ผˆ๏ผ‘๏ผ‰็กฌใ„ๅทฆๅฟƒๅฎค๏ผˆstiff left ventricle๏ผ‰ใฎๅญ˜ๅœจใ€๏ผˆ๏ผ’๏ผ‰ๅทฆๅฎคๆ‹กๅคงใ‚„่‚ฅๅคงใฎๆฌ ๅฆ‚ใ€๏ผˆ๏ผ“๏ผ‰ๆญฃๅธธใพใŸใฏๆญฃๅธธใซ่ฟ‘ใ„ๅทฆๅฎคๅŽ็ธฎๆฉŸ่ƒฝใ€๏ผˆ๏ผ”๏ผ‰ๅŽŸๅ› ๏ผˆๅŸบ็คŽๅฟƒ็–พๆ‚ฃ๏ผ‰ไธๆ˜Žใฎ๏ผ”้ …็›ฎใŒ่จบๆ–ญใฎๅฟ…่ฆๅๅˆ†ๆกไปถใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200292" ; - terms:source ; - a owl:Class ; - rdfs:label "Restrictive cardiomyopathy"@en, "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005201 ; + + nando:hasNotificationNumber "59" ; + dcterms:description "2005ๅนดใซ็™บ่กจใ•ใ‚ŒใŸ็‰น็™บๆ€งๅฟƒ็ญ‹็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹่จบๆ–ญใฎๆ‰‹ๅผ•ใใซใ‚ˆใ‚‹ใจใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎๅŸบๆœฌ็—…ๆ…‹ใฏๅทฆๅฟƒๅฎคๆ‹กๅผต้šœๅฎณใงใ‚ใ‚Šใ€๏ผˆ๏ผ‘๏ผ‰็กฌใ„ๅทฆๅฟƒๅฎค๏ผˆstiff left ventricle๏ผ‰ใฎๅญ˜ๅœจใ€๏ผˆ๏ผ’๏ผ‰ๅทฆๅฎคๆ‹กๅคงใ‚„่‚ฅๅคงใฎๆฌ ๅฆ‚ใ€๏ผˆ๏ผ“๏ผ‰ๆญฃๅธธใพใŸใฏๆญฃๅธธใซ่ฟ‘ใ„ๅทฆๅฎคๅŽ็ธฎๆฉŸ่ƒฝใ€๏ผˆ๏ผ”๏ผ‰ๅŽŸๅ› ๏ผˆๅŸบ็คŽๅฟƒ็–พๆ‚ฃ๏ผ‰ไธๆ˜Žใฎ๏ผ”้ …็›ฎใŒ่จบๆ–ญใฎๅฟ…่ฆๅๅˆ†ๆกไปถใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200292" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Restrictive cardiomyopathy"@en, "ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Restricted cardiomyopathy"@en ; + skos:closeMatch obo:MONDO_0005201 ; skos:prefLabel "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200293 - :hasNotificationNumber "59" ; - terms:identifier "1200293" ; - terms:source ; + + nando:hasNotificationNumber "59" ; + dcterms:identifier "NANDO:1200293" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic restrictive cardiomyopathy"@en, "็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Idiopathic restrictive cardiomyopathy"@en, "ใจใใฏใคใ›ใ„ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005201 ; skos:prefLabel "็‰น็™บๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200294 - :hasNotificationNumber "59" ; - terms:identifier "1200294" ; - terms:source ; + + nando:hasNotificationNumber "59" ; + dcterms:identifier "NANDO:1200294" ; + dcterms:source ; a owl:Class ; - rdfs:label "Secondary restrictive cardiomyopathy"@en, "ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Secondary restrictive cardiomyopathy"@en, "ใซใ˜ใ›ใ„ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016345 ; skos:prefLabel "ไบŒๆฌกๆ€งๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:1200295 - :hasNotificationNumber "60" ; - terms:description "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใฏใ€ๆœซๆขข่ก€ใงๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใŒไฝŽๅฝขๆˆใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ƒๆธ›ๅฐ‘ใฏๅฟ…ใšใ—ใ‚‚ๅ…จใฆใฎ่ก€็ƒใจใ„ใ†ใ‚ใ‘ใงใฏใชใใ€่ปฝ็—‡ไพ‹ใงใฏ่ฒง่ก€ใจ่ก€ๅฐๆฟๆธ›ๅฐ‘ใ ใ‘ใง็™ฝ่ก€็ƒๆ•ฐใฏๆญฃๅธธใจใ„ใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่จบๆ–ญใฎใŸใ‚ใซใฏใ€ไป–ใฎ็–พๆ‚ฃใซใ‚ˆใ‚‹ๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็‰นใซ่จบๆ–ญใŒ็ด›ใ‚‰ใ‚ใ—ใ„็–พๆ‚ฃใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎไธๅฟœๆ€ง่ฒง่ก€๏ผˆFABๅˆ†้กž๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200295" ; - terms:source ; - a owl:Class ; - rdfs:label "Aplastic anemia"@en, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012197, mondo:MONDO_0015909 ; + + nando:hasNotificationNumber "60" ; + dcterms:description "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใฏใ€ๆœซๆขข่ก€ใงๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใŒไฝŽๅฝขๆˆใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ƒๆธ›ๅฐ‘ใฏๅฟ…ใšใ—ใ‚‚ๅ…จใฆใฎ่ก€็ƒใจใ„ใ†ใ‚ใ‘ใงใฏใชใใ€่ปฝ็—‡ไพ‹ใงใฏ่ฒง่ก€ใจ่ก€ๅฐๆฟๆธ›ๅฐ‘ใ ใ‘ใง็™ฝ่ก€็ƒๆ•ฐใฏๆญฃๅธธใจใ„ใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่จบๆ–ญใฎใŸใ‚ใซใฏใ€ไป–ใฎ็–พๆ‚ฃใซใ‚ˆใ‚‹ๆฑŽ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚็‰นใซ่จบๆ–ญใŒ็ด›ใ‚‰ใ‚ใ—ใ„็–พๆ‚ฃใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎไธๅฟœๆ€ง่ฒง่ก€๏ผˆFABๅˆ†้กž๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200295" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aplastic anemia"@en, "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0015909 ; skos:prefLabel "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . -:1200296 - :hasNotificationNumber "60" ; - terms:identifier "1200296" ; - terms:source ; + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200296" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic aplastic anemia"@en, "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012197 ; + rdfs:label "Idiopathic aplastic anemia"@en, "ใจใใฏใคใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Idiopathic aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0012197 ; skos:prefLabel "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . -:1200297 - :hasNotificationNumber "60" ; - terms:identifier "1200297" ; - terms:source ; + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200297" ; + dcterms:source ; a owl:Class ; - rdfs:label "Secondary aplastic anemia"@en, "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012197 ; + rdfs:label "Secondary aplastic anemia"@en, "ใซใ˜ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Secondary aplastic anaemia"@en ; skos:prefLabel "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . -:1200298 - :hasNotificationNumber "60" ; - terms:identifier "1200298" ; - terms:source ; - a owl:Class ; - rdfs:label "็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200299 - :hasNotificationNumber "60" ; - terms:identifier "1200299" ; - terms:source ; - a owl:Class ; - rdfs:label "Hepatitis-Associated Aplastic Anemia"@en, "่‚็‚ŽๅพŒ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - skos:prefLabel "่‚็‚ŽๅพŒ"@ja . - -:1200300 - :hasNotificationNumber "60" ; - terms:identifier "1200300" ; - terms:source ; - a owl:Class ; - rdfs:label "aplastic anaemia--paroxysmal nocturnal haemoglobinuria syndrome"@en, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200298" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical aplastic anemia"@en, "ใจใใ—ใ‚…ใŒใŸใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Atypical aplastic anaemia"@en ; + skos:prefLabel "็‰นๆฎŠๅž‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200299" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatitis-associated aplastic anemia"@en, "ใ‹ใ‚“ใˆใ‚“ใ”ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Hepatitis-associated aplastic anaemia"@en ; + skos:prefLabel "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200300" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome"@en, "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใคใดใƒผใˆใฌใˆใ„ใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Aplastic anaemia-PNH syndrome"@en, "Aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome"@en ; + skos:closeMatch obo:MONDO_0018641 ; skos:prefLabel "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€-PNH็—‡ๅ€™็พค"@ja . -:1200301 - :hasNotificationNumber "60" ; - terms:identifier "1200301" ; - terms:source ; - a owl:Class ; - rdfs:label "MDSใจใฎๅขƒ็•Œๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200302 - :hasNotificationNumber "60" ; - terms:identifier "1200302" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital aplastic anemia"@en, "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001713 ; + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200301" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Borderline between aplastic anemia and MDS"@en, "MDSใจใฎๅขƒ็•Œๅž‹"@ja, "ใˆใ‚€ใงใƒใƒผใˆใ™ใจใฎใใ‚‡ใ†ใ‹ใ„ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Borderline between aplastic anaemia and MDS"@en ; + skos:closeMatch obo:MONDO_0013851, obo:MONDO_0015909 ; + skos:prefLabel "MDSใจใฎๅขƒ็•Œๅž‹"@ja . + + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200302" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital aplastic anemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0001713 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . -:1200303 - :hasNotificationNumber "60" ; - terms:identifier "1200303" ; - terms:source ; + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200303" ; + dcterms:source ; a owl:Class ; - rdfs:label "fanconi anemia"@en, "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009215, mondo:MONDO_0019391 ; + rdfs:label "Fanconi anemia"@en, "ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค"@ja-Hira, "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Fanconi anaemia"@en ; + skos:closeMatch obo:MONDO_0019391 ; skos:prefLabel "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja . -:1200304 - :hasNotificationNumber "60" ; - terms:identifier "1200304" ; - terms:source ; + + nando:hasNotificationNumber "60" ; + dcterms:identifier "NANDO:1200304" ; + dcterms:source ; a owl:Class ; - rdfs:label "dyskeratosis congenita"@en, "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015780 ; - skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡"@ja . + rdfs:label "Dyskeratosis congenita"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0015780 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡"@ja . -:1200305 - :hasNotificationNumber "61" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆAIHA๏ผ‰ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒใฎๅฏฟๅ‘ฝใŒ่‘—ใ—ใ็Ÿญ็ธฎ๏ผˆๆบถ่ก€๏ผ‰ ใ—ใ€่ฒง่ก€ใ‚’ๆฅใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใซใคใชใŒใ‚‹็—…ๅ› ใฎ่ฉณ็ดฐใฏใ„ใพใ ไธๆ˜Žใฎ้ƒจๅˆ†ใŒๅคšใใ€่‡จๅบŠ็ตŒ้ŽใƒปไบˆๅพŒใฎ้ขใงใ‚‚ๅคšๆง˜ๆ€งใซๅฏŒใ‚€ไธๅ‡่ณชใช็—…ๆ…‹็พคใจ็†่งฃใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚’ๅ…ฑ้€š็‚นใจใ™ใ‚‹ใŒใ€ๆŠ—ไฝ“ใฎๆ€ง็Šถใ€่‡จๅบŠ็š„่กจ็พๅž‹ใ€ๅฅฝ็™บๅนด้ฝขใชใฉๆง˜ใ€…ใช่ฆณ็‚นใ‹ใ‚‰ใฟใฆ็•ฐใชใ‚‹็‰นๅพดใ‚’ใ‚‚ใค็—…ๆ…‹ใ‚’ๅŒ…ๅซใ™ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎ่ตค่ก€็ƒ็ตๅˆใฎๆœ€้ฉๆธฉๅบฆใซใ‚ˆใ‚Šๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200305" ; - terms:source ; - a owl:Class ; - rdfs:label "Autoimmune hemolytic anemia"@en, "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020108 ; + + nando:hasNotificationNumber "61" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆAIHA๏ผ‰ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒใฎๅฏฟๅ‘ฝใŒ่‘—ใ—ใ็Ÿญ็ธฎ๏ผˆๆบถ่ก€๏ผ‰ ใ—ใ€่ฒง่ก€ใ‚’ๆฅใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใซใคใชใŒใ‚‹็—…ๅ› ใฎ่ฉณ็ดฐใฏใ„ใพใ ไธๆ˜Žใฎ้ƒจๅˆ†ใŒๅคšใใ€่‡จๅบŠ็ตŒ้ŽใƒปไบˆๅพŒใฎ้ขใงใ‚‚ๅคšๆง˜ๆ€งใซๅฏŒใ‚€ไธๅ‡่ณชใช็—…ๆ…‹็พคใจ็†่งฃใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎๅ‡บ็พใ‚’ๅ…ฑ้€š็‚นใจใ™ใ‚‹ใŒใ€ๆŠ—ไฝ“ใฎๆ€ง็Šถใ€่‡จๅบŠ็š„่กจ็พๅž‹ใ€ๅฅฝ็™บๅนด้ฝขใชใฉๆง˜ใ€…ใช่ฆณ็‚นใ‹ใ‚‰ใฟใฆ็•ฐใชใ‚‹็‰นๅพดใ‚’ใ‚‚ใค็—…ๆ…‹ใ‚’ๅŒ…ๅซใ™ใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใฎ่ตค่ก€็ƒ็ตๅˆใฎๆœ€้ฉๆธฉๅบฆใซใ‚ˆใ‚Šๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200305" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autoimmune hemolytic anemia"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "AIHA"@en, "Autoimmune haemolytic anaemia"@en ; + skos:closeMatch obo:MONDO_0020108 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:1200306 - :hasNotificationNumber "61" ; - terms:identifier "1200306" ; - terms:source ; + + nando:hasNotificationNumber "61" ; + dcterms:identifier "NANDO:1200306" ; + dcterms:source ; a owl:Class ; - rdfs:label "Warm autoimmune hemolytic anemia"@en, "ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Warm antibody hemolytic anemia"@en, "ใŠใ‚“ใ—ใใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Warm antibody AIHA"@en, "Warm antibody haemolytic anaemia"@en ; + skos:closeMatch obo:MONDO_0019532 ; skos:prefLabel "ๆธฉๅผ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:1200307 - :hasNotificationNumber "61" ; - terms:identifier "1200307" ; - terms:source ; + + nando:hasNotificationNumber "61" ; + dcterms:identifier "NANDO:1200307" ; + dcterms:source ; a owl:Class ; - rdfs:label "cold agglutinin disease"@en, "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018922 ; + rdfs:label "Cold agglutinin disease"@en, "ใ‹ใ‚“ใ‚Œใ„ใŽใ‚‡ใ†ใ—ใ‚…ใ†ใใ—ใ‚‡ใ†"@ja-Hira, "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CAD"@en ; + skos:closeMatch obo:MONDO_0018922 ; skos:prefLabel "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡"@ja . -:1200308 - :hasNotificationNumber "61" ; - terms:identifier "1200308" ; - terms:source ; - a owl:Class ; - rdfs:label "paroxysmal cold haemoglobinuria"@en, "ๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . - -:1200309 - :hasNotificationNumber "61" ; - terms:identifier "1200309" ; - terms:source ; - a owl:Class ; - rdfs:label "Mixed-type autoimmune hemolytic anemia"@en, "ๆททๅˆๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019534 ; + + nando:hasNotificationNumber "61" ; + dcterms:identifier "NANDO:1200308" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paroxysmal cold hemoglobinuria"@en, "ใปใฃใ•ใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PCH"@en, "Paroxysmal cold haemoglobinuria"@en ; + skos:closeMatch obo:MONDO_0019533 ; + skos:prefLabel "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "61" ; + dcterms:identifier "NANDO:1200309" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mixed-type autoimmune hemolytic anemia"@en, "ใ“ใ‚“ใ”ใ†ใŒใŸ"@ja-Hira, "ๆททๅˆๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Mixed-type autoimmune haemolytic anaemia"@en ; + skos:closeMatch obo:MONDO_0019534 ; skos:prefLabel "ๆททๅˆๅž‹"@ja . -:1200310 - :hasNotificationNumber "61" ; - terms:identifier "1200310" ; - terms:source ; + + nando:hasNotificationNumber "61" ; + dcterms:identifier "NANDO:1200310" ; + dcterms:source ; a owl:Class ; - rdfs:label "Evans syndrome"@en, "ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016030 ; + rdfs:label "Evans syndrome"@en, "ใˆใฐใ‚“ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ใ‚จใƒใƒณใ‚น็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0016030 ; skos:prefLabel "ใ‚จใƒดใ‚กใƒณใ‚บ็—‡ๅ€™็พค"@ja . -:1200311 - :hasNotificationNumber "62" ; - terms:description "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆParoximal Nocturnal Hemogrobinuria๏ผšPNH๏ผ‰ใฏใ€PIGA้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚’ไปฃ่กจใจใ™ใ‚‹้€ ่ก€ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏใพใ‚Œใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚PNHใฏใ€ๆ˜ญๅ’Œ49๏ผˆ1974๏ผ‰ๅนดใซๆบถ่ก€ๆ€ง่ฒง่ก€ใŒ็‰นๅฎš็–พๆ‚ฃใซๆŒ‡ๅฎšใ•ใ‚ŒใŸใ“ใจใซไผดใ„ใ€็ ”็ฉถๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅ–ใ‚ŠไธŠใ’ใ‚‰ใ‚Œใ€ใ€Œๆบถ่ก€ๆ€ง่ฒง่ก€่ชฟๆŸป็ ”็ฉถ็ญใ€๏ผˆ็ญ้•ทใ€€ไธ‰่ผชๅฒๆœ—๏ผ‰ใซใ‚ˆใฃใฆ็ต„็น”็š„ใช็ ”็ฉถใŒ้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‹ใ‚‰ไปŠๆ—ฅใซ่‡ณใ‚‹40ๅนดใซใ‚ใŸใฃใฆๆญดไปฃ็ญ้•ทใซใ‚ˆใ‚Š็–ซๅญฆใ€็—…ๅ› ใ€็—…ๆ…‹ใ€่จบๆ–ญใ€ๆฒป็™‚ใ€ไบˆๅพŒใชใฉๅน…ๅบƒใ„้ ˜ๅŸŸใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใŒ้‡ใญใ‚‰ใ‚ŒใฆใใŸใ€‚่จบๆ–ญๆ™‚๏ผˆๅˆ่จบๆ™‚๏ผ‰ๅนด้ฝขใฏใ€็‰น็™บๆ€ง้€ ่ก€้šœๅฎณใซ้–ขใ™ใ‚‹็ ”็ฉถ็ญใฎๅ…ฑๅŒ็ ”็ฉถใ€ŒPNHๆ‚ฃ่€…ใซใŠใ‘ใ‚‹่‡จๅบŠ็—…ๆญดใจ่‡ช็„ถๆญดใฎๆ—ฅ็ฑณๆฏ”่ผƒ่ชฟๆŸปใ€ใฎใƒ‡ใƒผใ‚ฟใซใ‚ˆใ‚‹ใจใ€45.1ๆญณ๏ผˆrange๏ผš10๏ฝž86๏ผ‰ใงใ‚ใฃใŸใ€‚่จบๆ–ญๆ™‚ๅนด้ฝขๅˆ†ๅธƒใฏใ€20๏ฝž60ๆญณไปฃใซๅคšใใพใ‚“ในใ‚“ใชใ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฌง็ฑณไพ‹ใงใฏใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟใ€่ก€ๆ “็—‡ใจใ„ใฃใŸPNHใฎๅคๅ…ธ็š„็—‡็ŠถใŒๅ‰้ขใซๅ‡บใ‚„ใ™ใ„ใฎใซๅฏพใ—ใ€ใ‚ขใ‚ธใ‚ขไพ‹ใงใฏใ‚€ใ—ใ‚้€ ่ก€ไธๅ…จ็—‡็ŠถใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200311" ; - terms:source ; - a owl:Class ; - rdfs:label "Paroxysmal nocturnal hemoglobinuria"@en, "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018641 ; + + nando:hasNotificationNumber "62" ; + dcterms:description "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆParoximal Nocturnal Hemogrobinuria๏ผšPNH๏ผ‰ใฏใ€PIGA้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚’ไปฃ่กจใจใ™ใ‚‹้€ ่ก€ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏใพใ‚Œใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚PNHใฏใ€ๆ˜ญๅ’Œ49๏ผˆ1974๏ผ‰ๅนดใซๆบถ่ก€ๆ€ง่ฒง่ก€ใŒ็‰นๅฎš็–พๆ‚ฃใซๆŒ‡ๅฎšใ•ใ‚ŒใŸใ“ใจใซไผดใ„ใ€็ ”็ฉถๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅ–ใ‚ŠไธŠใ’ใ‚‰ใ‚Œใ€ใ€Œๆบถ่ก€ๆ€ง่ฒง่ก€่ชฟๆŸป็ ”็ฉถ็ญใ€๏ผˆ็ญ้•ทใ€€ไธ‰่ผชๅฒๆœ—๏ผ‰ใซใ‚ˆใฃใฆ็ต„็น”็š„ใช็ ”็ฉถใŒ้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‹ใ‚‰ไปŠๆ—ฅใซ่‡ณใ‚‹40ๅนดใซใ‚ใŸใฃใฆๆญดไปฃ็ญ้•ทใซใ‚ˆใ‚Š็–ซๅญฆใ€็—…ๅ› ใ€็—…ๆ…‹ใ€่จบๆ–ญใ€ๆฒป็™‚ใ€ไบˆๅพŒใชใฉๅน…ๅบƒใ„้ ˜ๅŸŸใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใŒ้‡ใญใ‚‰ใ‚ŒใฆใใŸใ€‚่จบๆ–ญๆ™‚๏ผˆๅˆ่จบๆ™‚๏ผ‰ๅนด้ฝขใฏใ€็‰น็™บๆ€ง้€ ่ก€้šœๅฎณใซ้–ขใ™ใ‚‹็ ”็ฉถ็ญใฎๅ…ฑๅŒ็ ”็ฉถใ€ŒPNHๆ‚ฃ่€…ใซใŠใ‘ใ‚‹่‡จๅบŠ็—…ๆญดใจ่‡ช็„ถๆญดใฎๆ—ฅ็ฑณๆฏ”่ผƒ่ชฟๆŸปใ€ใฎใƒ‡ใƒผใ‚ฟใซใ‚ˆใ‚‹ใจใ€45.1ๆญณ๏ผˆrange๏ผš10๏ฝž86๏ผ‰ใงใ‚ใฃใŸใ€‚่จบๆ–ญๆ™‚ๅนด้ฝขๅˆ†ๅธƒใฏใ€20๏ฝž60ๆญณไปฃใซๅคšใใพใ‚“ในใ‚“ใชใ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฌง็ฑณไพ‹ใงใฏใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟใ€่ก€ๆ “็—‡ใจใ„ใฃใŸPNHใฎๅคๅ…ธ็š„็—‡็ŠถใŒๅ‰้ขใซๅ‡บใ‚„ใ™ใ„ใฎใซๅฏพใ—ใ€ใ‚ขใ‚ธใ‚ขไพ‹ใงใฏใ‚€ใ—ใ‚้€ ่ก€ไธๅ…จ็—‡็ŠถใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200311" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paroxysmal nocturnal hemoglobinuria"@en, "ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PNH"@en, "Paroxysmal nocturnal haemoglobinuria"@en ; + skos:closeMatch obo:MONDO_0018641 ; skos:prefLabel "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . -:1200312 - :hasNotificationNumber "62" ; - terms:identifier "1200312" ; - terms:source ; - a owl:Class ; - rdfs:label "Classicalย Paroxysmal Nocturnal Hemoglobinuria"@en, "ๅคๅ…ธ็š„PNH"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅคๅ…ธ็š„PNH"@ja . - -:1200313 - :hasNotificationNumber "62" ; - terms:identifier "1200313" ; - terms:source ; - a owl:Class ; - rdfs:label "PNH in the setting of another specified bone marrow disorder"@en, "้ชจ้ซ„ไธๅ…จๅž‹PNH"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "้ชจ้ซ„ไธๅ…จๅž‹PNH"@ja . - -:1200314 - :hasNotificationNumber "62" ; - terms:identifier "1200314" ; - terms:source ; - a owl:Class ; - rdfs:label "Paroxysmal nocturnal hemoglobinuria"@en, "ๆททๅˆๅž‹PNH"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018641 ; - skos:prefLabel "ๆททๅˆๅž‹PNH"@ja . - -:1200315 - :hasNotificationNumber "63" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็™บ็พใ—ใ€่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆฌง็ฑณใซใŠใ„ใฆๆœฌ็—‡ใฏใ€ไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆprimary immune thrombocytopenia๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฎๅทจๆ ธ็ƒ็”ฃ็”Ÿ่ƒฝใฎไฝŽไธ‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใชใ„ใ€‚ITPใฎ่จบๆ–ญใฏไปŠใงใ‚‚้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŸบ็คŽ็–พๆ‚ฃใ‚„ใ€่–ฌๅ‰คใฎ้–ขไธŽใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ยตLๆœชๆบ€ใ‚’ใ•ใ™ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ๅฐๆฟ่‡ชๅทฑๆŠ—ไฝ“ใŒ้ชจ้ซ„ๅทจๆ ธ็ƒใซใ‚‚็ตๅˆใ—ใ€่ก€ๅฐๆฟใฎ็”ฃ็”Ÿ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200315" ; - terms:source ; - a owl:Class ; - rdfs:label "Idiopathic thrombocytopenic purpura"@en, "็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008558 ; + + nando:hasNotificationNumber "62" ; + dcterms:identifier "NANDO:1200312" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Classical paroxysmal nocturnal hemoglobinuria"@en, "ใ“ใฆใ‚“ใฆใใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅคๅ…ธ็š„็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Classical Paroxysmal Nocturnal Haemoglobinuria"@en, "ๅคๅ…ธ็š„PNH"@ja ; + skos:prefLabel "ๅคๅ…ธ็š„็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "62" ; + dcterms:identifier "NANDO:1200313" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paroxysmal nocturnal hemoglobinuria in the setting of another specified bone marrow disorder"@en, "ใ“ใคใšใ„ใตใœใ‚“ใŒใŸใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ชจ้ซ„ไธๅ…จๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PNH in the setting of another specified bone marrow disorder"@en, "Paroxysmal nocturnal haemoglobinuria in the setting of another specified bone marrow disorder"@en, "้ชจ้ซ„ไธๅ…จๅž‹PNH"@ja ; + skos:prefLabel "้ชจ้ซ„ไธๅ…จๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "62" ; + dcterms:identifier "NANDO:1200314" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mixed type paroxysmal nocturnal hemoglobinuria"@en, "ใ“ใ‚“ใ”ใ†ใŒใŸใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆททๅˆๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Mixed type paroxysmal nocturnal haemoglobinuria"@en, "ๆททๅˆๅž‹PNH"@ja ; + skos:prefLabel "ๆททๅˆๅž‹็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "63" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็™บ็พใ—ใ€่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๆฅใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆฌง็ฑณใซใŠใ„ใฆๆœฌ็—‡ใฏใ€ไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆprimary immune thrombocytopenia๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฎๅทจๆ ธ็ƒ็”ฃ็”Ÿ่ƒฝใฎไฝŽไธ‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใชใ„ใ€‚ITPใฎ่จบๆ–ญใฏไปŠใงใ‚‚้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŸบ็คŽ็–พๆ‚ฃใ‚„ใ€่–ฌๅ‰คใฎ้–ขไธŽใ‚’้™คๅค–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ยตLๆœชๆบ€ใ‚’ใ•ใ™ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ๅฐๆฟ่‡ชๅทฑๆŠ—ไฝ“ใŒ้ชจ้ซ„ๅทจๆ ธ็ƒใซใ‚‚็ตๅˆใ—ใ€่ก€ๅฐๆฟใฎ็”ฃ็”Ÿ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200315" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic thrombocytopenic purpura"@en, "ใจใใฏใคใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Primary immune thrombocytopenia"@en ; + skos:closeMatch obo:MONDO_0008558 ; skos:prefLabel "็‰น็™บๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:1200316 - :hasNotificationNumber "64" ; - terms:description "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผšTTP๏ผ‰ใฏใ€1924ๅนด็ฑณๅ›ฝใฎEli Moschcowitzใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆญดๅฒ็š„ใซใฏ๏ผ‘๏ผ‰ๆถˆ่€—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€๏ผ“๏ผ‰่…ŽๆฉŸ่ƒฝ้šœๅฎณใ€๏ผ”๏ผ‰็™บ็†ฑใ€๏ผ•๏ผ‰ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ้šœๅฎณใฎๅคๅ…ธ็š„๏ผ•ๅพดๅ€™ใง่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€๏ผ‘๏ผ‰๏ผ’๏ผ‰ใฎใฟใฎ็—‡ไพ‹ใงใ‚‚ๅŒๆง˜ใฎ็—…ๆ…‹ใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸใŒใ€ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏADAMTS13ๆดปๆ€ง่‘—ๆธ›๏ผˆ10๏ผ…ๆœชๆบ€๏ผ‰ใฎใฟใŒTTPใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚TTPใฎ็ฝนๆ‚ฃๅนดไปคใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰่€ไบบใพใงใจๅน…ๅบƒใใ€ๆ—ฅๆœฌๅ›ฝๅ†…ใงใฏ30๏ฝž50ๆญณใจ60ๆญณๅ‰ๅพŒใซ็™บ็—‡ใƒ”ใƒผใ‚ฏใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฝนๆ‚ฃ็Ž‡ใฏๅฅณๆ€งใซใ‚„ใ‚„ๅคšใ„ใŒใ€30๏ฝž50ๆญณใงใฏๅฅณๆ€งใŒๆ˜Žใ‚‰ใ‹ใซๅคšใใ€้ซ˜้ฝขใซใชใ‚Œใฐ็”ทๆ€งใฎๆฏ”็Ž‡ใŒ้ซ˜ใพใ‚‹ใ€‚"@ja ; - terms:identifier "1200316" ; - terms:source ; - a owl:Class ; - rdfs:label "Thrombotic thrombocytopenic purpura"@en, "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018896 ; + + nando:hasNotificationNumber "64" ; + dcterms:description "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผšTTP๏ผ‰ใฏใ€1924ๅนด็ฑณๅ›ฝใฎEli Moschcowitzใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆญดๅฒ็š„ใซใฏ๏ผ‘๏ผ‰ๆถˆ่€—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€๏ผ“๏ผ‰่…ŽๆฉŸ่ƒฝ้šœๅฎณใ€๏ผ”๏ผ‰็™บ็†ฑใ€๏ผ•๏ผ‰ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ้šœๅฎณใฎๅคๅ…ธ็š„๏ผ•ๅพดๅ€™ใง่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€๏ผ‘๏ผ‰๏ผ’๏ผ‰ใฎใฟใฎ็—‡ไพ‹ใงใ‚‚ๅŒๆง˜ใฎ็—…ๆ…‹ใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸใŒใ€ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏADAMTS13ๆดปๆ€ง่‘—ๆธ›๏ผˆ10๏ผ…ๆœชๆบ€๏ผ‰ใฎใฟใŒTTPใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚TTPใฎ็ฝนๆ‚ฃๅนดไปคใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰่€ไบบใพใงใจๅน…ๅบƒใใ€ๆ—ฅๆœฌๅ›ฝๅ†…ใงใฏ30๏ฝž50ๆญณใจ60ๆญณๅ‰ๅพŒใซ็™บ็—‡ใƒ”ใƒผใ‚ฏใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ฝนๆ‚ฃ็Ž‡ใฏๅฅณๆ€งใซใ‚„ใ‚„ๅคšใ„ใŒใ€30๏ฝž50ๆญณใงใฏๅฅณๆ€งใŒๆ˜Žใ‚‰ใ‹ใซๅคšใใ€้ซ˜้ฝขใซใชใ‚Œใฐ็”ทๆ€งใฎๆฏ”็Ž‡ใŒ้ซ˜ใพใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200316" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Thrombotic thrombocytopenic purpura"@en, "ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "TTP"@en ; + skos:closeMatch obo:MONDO_0018896 ; skos:prefLabel "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:1200317 - :hasNotificationNumber "64" ; - terms:identifier "1200317" ; - terms:source ; + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:1200317" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital thrombotic thrombocytopenic purpura"@en, "ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010122 ; + rdfs:label "Congenital thrombotic thrombocytopenic purpura"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Upshaw-Schulman syndrome"@en, "Upshaw-Schulman็—‡ๅ€™็พค"@ja, "ใ‚ขใƒƒใƒ—ใ‚ทใƒงใƒผใƒปใ‚ทใƒฅใƒผใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010122 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:1200318 - :hasNotificationNumber "64" ; - terms:identifier "1200318" ; - terms:source ; + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:1200318" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acquired idiopathic thrombotic thrombocytopenic purpura"@en, "ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Acquired idiopathic thrombotic thrombocytopenic purpura"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใ’ใ‚“ใฑใคใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019740 ; skos:prefLabel "ๅพŒๅคฉๆ€งๅŽŸ็™บๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:1200319 - :hasNotificationNumber "64" ; - terms:identifier "1200319" ; - terms:source ; + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:1200319" ; + dcterms:source ; a owl:Class ; - rdfs:label "secondary thromboticย thrombocytopenic purpura"@en, "ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Secondary thrombotic thrombocytopenic purpura"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใซใ˜ใ›ใ„ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Secondary TTP"@en ; + skos:closeMatch obo:MONDO_0019740 ; skos:prefLabel "ๅพŒๅคฉๆ€งไบŒๆฌกๆ€ง่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:1200320 - :hasNotificationNumber "65" ; - terms:description "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซๅ…็–ซ็ณปใฎใ„ใšใ‚Œใ‹ใฎ้ƒจๅˆ†ใซๆฌ ้™ฅใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅพŒๅคฉ็š„ใซๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹ใ‚จใ‚คใ‚บใชใฉใฎๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ๅ…็–ซๆ‹…ๅฝ“็ดฐ่ƒž๏ผˆไพ‹ใˆใฐใ€ๅฅฝไธญ็ƒใ€T็ดฐ่ƒžใ€B็ดฐ่ƒž๏ผ‰ใชใฉใฎ็จฎ้กžใ‚„้ƒจไฝใซใ‚ˆใ‚Š200่ฟ‘ใใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹ใฎใฏใ€ๆ„ŸๆŸ“ใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๅŠ›ใฎไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚้‡็—‡ๆ„ŸๆŸ“ใฎใŸใ‚้‡็ฏคใช่‚บ็‚Žใ€ไธญ่€ณ็‚Žใ€่†ฟ็˜ใ€้ซ„่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚ๆ™‚ใซ็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ไธญ่€ณ็‚Žใฎๅๅพฉใซใ‚ˆใ‚‹้›ฃ่ดใ€่‚บๆ„ŸๆŸ“ใฎๅๅพฉใซใ‚ˆใ‚Šๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200320" ; - terms:source ; - a owl:Class ; - rdfs:label "Primary Immunodeficiency Syndrome"@en, "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Primary immunodeficiency"@en ; - skos:closeMatch mondo:MONDO_0003778 ; + + nando:hasNotificationNumber "65" ; + dcterms:description "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซๅ…็–ซ็ณปใฎใ„ใšใ‚Œใ‹ใฎ้ƒจๅˆ†ใซๆฌ ้™ฅใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅพŒๅคฉ็š„ใซๅ…็–ซๅŠ›ใŒไฝŽไธ‹ใ™ใ‚‹ใ‚จใ‚คใ‚บใชใฉใฎๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ๅ…็–ซๆ‹…ๅฝ“็ดฐ่ƒž๏ผˆไพ‹ใˆใฐใ€ๅฅฝไธญ็ƒใ€T็ดฐ่ƒžใ€B็ดฐ่ƒž๏ผ‰ใชใฉใฎ็จฎ้กžใ‚„้ƒจไฝใซใ‚ˆใ‚Š200่ฟ‘ใใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹ใฎใฏใ€ๆ„ŸๆŸ“ใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๅŠ›ใฎไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚้‡็—‡ๆ„ŸๆŸ“ใฎใŸใ‚้‡็ฏคใช่‚บ็‚Žใ€ไธญ่€ณ็‚Žใ€่†ฟ็˜ใ€้ซ„่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚ๆ™‚ใซ็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ไธญ่€ณ็‚Žใฎๅๅพฉใซใ‚ˆใ‚‹้›ฃ่ดใ€่‚บๆ„ŸๆŸ“ใฎๅๅพฉใซใ‚ˆใ‚Šๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200320" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary immunodeficiency syndrome"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PID"@en, "Primary immunodeficiency disease"@en ; + skos:closeMatch obo:MONDO_0003778 ; skos:prefLabel "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค"@ja . -:1200321 - :hasNotificationNumber "65" ; - terms:identifier "1200321" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200321" ; + dcterms:source ; a owl:Class ; - rdfs:label "X-linked severe combined immunodeficiency"@en, "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010315 ; + rdfs:label "X-linked severe combined immunodeficiency"@en, "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "X-SCID"@en ; + skos:closeMatch obo:MONDO_0010315 ; skos:prefLabel "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja . -:1200322 - :hasNotificationNumber "65" ; - terms:identifier "1200322" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200322" ; + dcterms:source ; a owl:Class ; - rdfs:label "Reticular dysgenesis"@en, "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009973 ; + rdfs:label "Reticular dysgenesis"@en, "ใ•ใ„ใ‚‚ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009973 ; skos:prefLabel "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡"@ja . -:1200323 - :hasNotificationNumber "65" ; - terms:identifier "1200323" ; - terms:source ; - a owl:Class ; - rdfs:label "Adenosine deaminase deficiency"@en, "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผ ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ADAๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0007064 ; - skos:prefLabel "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผ ๆฌ ๆ็—‡"@ja . - -:1200324 - :hasNotificationNumber "65" ; - terms:identifier "1200324" ; - terms:source ; - a owl:Class ; - rdfs:label "Omenn syndrome"@en, "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200323" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adenosine deaminase deficiency"@en, "ใ‚ใงใฎใ—ใ‚“ใงใ‚ใฟใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "ADA deficiency"@en, "ADAๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0007064 ; + skos:prefLabel "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200324" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Omenn syndrome"@en, "ใŠใƒผใ‚ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Omenn็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0011338 ; + skos:closeMatch obo:MONDO_0011338 ; skos:prefLabel "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค"@ja . -:1200325 - :hasNotificationNumber "65" ; - terms:identifier "1200325" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200325" ; + dcterms:source ; a owl:Class ; - rdfs:label "Purine nucleoside phosphorylase deficiency"@en, "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013171 ; + rdfs:label "Purine nucleoside phosphorylase deficiency"@en, "ใทใ‚Šใ‚“ใฌใใ‚ŒใŠใ—ใฉใปใ™ใปใ‚Šใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013171 ; skos:prefLabel "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200326 - :hasNotificationNumber "65" ; - terms:identifier "1200326" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200326" ; + dcterms:source ; a owl:Class ; - rdfs:label "CD8 deficiency"@en, "CD8ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "CD8 deficiency"@en, "CD8ๆฌ ๆ็—‡"@ja, "ใ—ใƒผใงใƒใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012161 ; skos:prefLabel "CD8ๆฌ ๆ็—‡"@ja . -:1200327 - :hasNotificationNumber "65" ; - terms:identifier "1200327" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200327" ; + dcterms:source ; a owl:Class ; - rdfs:label "ZAP-70ๆฌ ๆ็—‡"@ja, "Zap-70 deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010023 ; + rdfs:label "ZAP-70ๆฌ ๆ็—‡"@ja, "Zap-70 deficiency"@en, "ใ–ใฃใท70ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010023 ; skos:prefLabel "ZAP-70ๆฌ ๆ็—‡"@ja . -:1200328 - :hasNotificationNumber "65" ; - terms:identifier "1200328" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200328" ; + dcterms:source ; a owl:Class ; - rdfs:label "MHC class I deficiency"@en, "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011476 ; + rdfs:label "MHC class I deficiency"@en, "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡"@ja, "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Major histocompatibility complex class I deficiency"@en ; + skos:closeMatch obo:MONDO_0011476 ; skos:prefLabel "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡"@ja . -:1200329 - :hasNotificationNumber "65" ; - terms:identifier "1200329" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200329" ; + dcterms:source ; a owl:Class ; - rdfs:label "MHC class II deficiency"@en, "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008855 ; + rdfs:label "MHC class II deficiency"@en, "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡"@ja, "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Major histocompatibility complex class II deficiency"@en ; + skos:closeMatch obo:MONDO_0008855 ; skos:prefLabel "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡"@ja . -:1200330 - :hasNotificationNumber "65" ; - terms:identifier "1200330" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200330" ; + dcterms:source ; a owl:Class ; - rdfs:label "Wiskott-Aldrich syndrome"@en, "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Wiskott-Aldrich syndrome"@en, "ใ†ใƒใ™ใ“ใฃใจใƒปใŠใ‚‹ใฉใ‚Šใฃใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , , ; + rdfs:subClassOf ; skos:altLabel "Wiskott-Aldrich็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010518 ; + skos:closeMatch obo:MONDO_0010518 ; skos:prefLabel "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja . -:1200331 - :hasNotificationNumber "65" ; - terms:identifier "1200331" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200331" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ataxia telangiectasia"@en, "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008840 ; + rdfs:label "Ataxia telangiectasia"@en, "ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡"@ja ; + rdfs:seeAlso , , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008840 ; skos:prefLabel "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡"@ja . -:1200332 - :hasNotificationNumber "65" ; - terms:identifier "1200332" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200332" ; + dcterms:source ; a owl:Class ; - rdfs:label "Nijmegen breakage syndrome"@en, "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Nijmegen breakage syndrome"@en, "ใชใ„ใฟใƒผใธใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใตใ‚ใ‚“ใฆใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Nijmegen breakage็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009623 ; + skos:closeMatch obo:MONDO_0009623 ; skos:prefLabel "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค"@ja . -:1200333 - :hasNotificationNumber "65" ; - terms:identifier "1200333" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200333" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bloom syndrome"@en, "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Bloom syndrome"@en, "ใถใ‚‹ใƒผใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Bloom็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008876 ; + skos:closeMatch obo:MONDO_0008876 ; skos:prefLabel "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค"@ja . -:1200334 - :hasNotificationNumber "65" ; - terms:identifier "1200334" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200334" ; + dcterms:source ; a owl:Class ; - rdfs:label "ICF syndrome"@en, "ICF็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000133 ; + rdfs:label "ICF syndrome"@en, "ICF็—‡ๅ€™็พค"@ja, "ใ‚ใ„ใ—ใƒผใˆใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000133 ; skos:prefLabel "ICF็—‡ๅ€™็พค"@ja . -:1200335 - :hasNotificationNumber "65" ; - terms:identifier "1200335" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200335" ; + dcterms:source ; a owl:Class ; - rdfs:label "PMS2 deficiency"@en, "PMS2็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "PMS2 deficiency"@en, "PMS2็•ฐๅธธ็—‡"@ja, "ใดใƒผใˆใ‚€ใˆใ™2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "PMS2็•ฐๅธธ็—‡"@ja . -:1200336 - :hasNotificationNumber "65" ; - terms:identifier "1200336" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200336" ; + dcterms:source ; a owl:Class ; - rdfs:label "RIDDLE syndrome"@en, "RIDDLE็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012764 ; + rdfs:label "RIDDLE syndrome"@en, "RIDDLE็—‡ๅ€™็พค"@ja, "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Radiosensitivity, immunodeficiency dysmorphic features and learning difficulties syndrome"@en ; + skos:closeMatch obo:MONDO_0012764 ; skos:prefLabel "RIDDLE็—‡ๅ€™็พค"@ja . -:1200337 - :hasNotificationNumber "65" ; - terms:identifier "1200337" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200337" ; + dcterms:source ; a owl:Class ; - rdfs:label "Schimke syndrome"@en, "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Schimke syndrome"@en, "ใ—ใ‚€ใ‘ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Schimke็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009458 ; + skos:closeMatch obo:MONDO_0009458 ; skos:prefLabel "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค"@ja . -:1200338 - :hasNotificationNumber "65" ; - terms:identifier "1200338" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200338" ; + dcterms:source ; a owl:Class ; - rdfs:label "Netherton syndrome"@en, "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Netherton syndrome"@en, "ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Netherton็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009735 ; + skos:closeMatch obo:MONDO_0009735 ; skos:prefLabel "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja . -:1200339 - :hasNotificationNumber "65" ; - terms:identifier "1200339" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200339" ; + dcterms:source ; a owl:Class ; - rdfs:label "thymus hypoplasia"@en, "่ƒธ่…บไฝŽๅฝขๆˆ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "22q11.2 deletion syndrome"@en, "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "DiGeorge syndrome"@en, "DiGeorge็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008564, mondo:MONDO_0018923 ; + rdfs:label "Thymus hypoplasia"@en, "ใใ‚‡ใ†ใ›ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„"@ja-Hira, "่ƒธ่…บไฝŽๅฝขๆˆ"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "22q11.2 deletion syndrome"@en, "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "DiGeorge syndrome"@en, "DiGeorge็—‡ๅ€™็พค"@ja, "ใƒ‡ใ‚คใ‚ธใƒงใƒผใ‚ธ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008564, obo:MONDO_0008644, obo:MONDO_0018923 ; skos:prefLabel "่ƒธ่…บไฝŽๅฝขๆˆ"@ja . -:1200340 - :hasNotificationNumber "65" ; - terms:identifier "1200340" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200340" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyper-IgE syndrome"@en, "้ซ˜IgE็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018037 ; + rdfs:label "Hyper-IgE syndrome"@en, "ใ“ใ†ใ‚ใ„ใ˜ใƒผใ„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ซ˜IgE็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018037 ; skos:prefLabel "้ซ˜IgE็—‡ๅ€™็พค"@ja . -:1200341 - :hasNotificationNumber "65" ; - terms:identifier "1200341" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200341" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hepatic veno-occlusive disease-immunodeficiency syndrome"@en, "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Hepaticย Veno-Occlusive Diseaseย withย Immunodeficiency"@en ; - skos:closeMatch mondo:MONDO_0009338 ; + rdfs:label "Hepatic veno-occlusive disease with immunodeficiency"@en, "ใ‹ใ‚“ใกใ‚…ใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "VODI"@en ; + skos:closeMatch obo:MONDO_0009338 ; skos:prefLabel "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡"@ja . -:1200342 - :hasNotificationNumber "65" ; - terms:identifier "1200342" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200342" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dyskeratosis congenita"@en, "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015780 ; + rdfs:label "Dyskeratosis congenita"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0015780 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡"@ja . -:1200343 - :hasNotificationNumber "65" ; - terms:identifier "1200343" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200343" ; + dcterms:source ; a owl:Class ; - rdfs:label "X-linked agammaglobulinemia"@en, "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010421 ; + rdfs:label "X-linked agammaglobulinemia"@en, "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚€ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "X-linked agammaglobulinaemia"@en, "XLA"@en, "X้€ฃ้Ž–็„กฮณใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0010421 ; skos:prefLabel "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja . -:1200344 - :hasNotificationNumber "65" ; - terms:identifier "1200344" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200344" ; + dcterms:source ; a owl:Class ; - rdfs:label "Common variable immunodeficiency"@en, "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015517 ; + rdfs:label "Common variable immunodeficiency"@en, "ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใŒใŸใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CVID"@en ; + skos:closeMatch obo:MONDO_0015517 ; skos:prefLabel "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡"@ja . -:1200345 - :hasNotificationNumber "65" ; - terms:identifier "1200345" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200345" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyper IgM syndrome"@en, "้ซ˜IgM็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003947, mondo:MONDO_0010626 ; + rdfs:label "Hyper-IgM syndrome"@en, "ใ“ใ†ใ‚ใ„ใ˜ใƒผใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ซ˜IgM็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003947 ; skos:prefLabel "้ซ˜IgM็—‡ๅ€™็พค"@ja . -:1200346 - :hasNotificationNumber "65" ; - terms:identifier "1200346" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200346" ; + dcterms:source ; a owl:Class ; - rdfs:label "IgG subclass deficiency"@en, "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0045045 ; + rdfs:label "IgG subclass deficiency"@en, "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใ˜ใƒผใ˜ใƒผใ•ใถใใ‚‰ใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0045045 ; skos:prefLabel "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡"@ja . -:1200347 - :hasNotificationNumber "65" ; - terms:identifier "1200347" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200347" ; + dcterms:source ; a owl:Class ; - rdfs:label "Selective IgA deficiency"@en, "้ธๆŠž็š„IgAๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001341 ; + rdfs:label "Selective IgA deficiency"@en, "ใ›ใ‚“ใŸใใฆใใ‚ใ„ใ˜ใƒผใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ธๆŠž็š„IgAๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001341 ; skos:prefLabel "้ธๆŠž็š„IgAๆฌ ๆ็—‡"@ja . -:1200348 - :hasNotificationNumber "65" ; - terms:identifier "1200348" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200348" ; + dcterms:source ; a owl:Class ; - rdfs:label "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells"@en, "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells"@en, "ใจใใ„ใ“ใ†ใŸใ„ใ•ใ‚“ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015711 ; skos:prefLabel "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡"@ja . -:1200349 - :hasNotificationNumber "65" ; - terms:identifier "1200349" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200349" ; + dcterms:source ; a owl:Class ; - rdfs:label "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells"@en, "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Transient hypogammaglobulinemia of infancy with normal numbers of B cells"@en, "ใซใ‚…ใ†ใ˜ใ„ใฃใ‹ใ›ใ„ใฆใ„ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells"@en ; + skos:closeMatch obo:MONDO_0015698 ; skos:prefLabel "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja . -:1200350 - :hasNotificationNumber "65" ; - terms:identifier "1200350" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200350" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chรฉdiak-Higashi syndrome"@en, "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Chรฉdiak-Higashi็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008963 ; + rdfs:label "Chรฉdiak-Higashi syndrome"@en, "ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CHS"@en, "Chรฉdiak-Higashi็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008963 ; skos:prefLabel "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja . -:1200351 - :hasNotificationNumber "65" ; - terms:identifier "1200351" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200351" ; + dcterms:source ; a owl:Class ; - rdfs:label "X-linked lymphoproliferative syndrome"@en, "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010627 ; + rdfs:label "X-linked lymphoproliferative syndrome"@en, "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "XLP"@en ; + skos:closeMatch obo:MONDO_0010627 ; skos:prefLabel "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja . -:1200352 - :hasNotificationNumber "65" ; - terms:identifier "1200352" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200352" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune lymphoproliferative syndrome"@en, "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Autoimmune lymphoproliferative syndrome"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "ALPS"@en, "ALPS"@ja ; - skos:closeMatch mondo:MONDO_0011158, mondo:MONDO_0017979 ; + skos:closeMatch obo:MONDO_0017979 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja . -:1200353 - :hasNotificationNumber "65" ; - terms:identifier "1200353" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200353" ; + dcterms:source ; a owl:Class ; - rdfs:label "Severe congenital neutropenia"@en, "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018542 ; + rdfs:label "Severe congenital neutropenia"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018542 ; skos:prefLabel "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja . -:1200354 - :hasNotificationNumber "65" ; - terms:identifier "1200354" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200354" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cyclic neutropenia"@en, "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008090 ; + rdfs:label "Cyclic neutropenia"@en, "ใ—ใ‚…ใ†ใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008090 ; skos:prefLabel "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja . -:1200355 - :hasNotificationNumber "65" ; - terms:identifier "1200355" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200355" ; + dcterms:source ; a owl:Class ; - rdfs:label "Leukocyte adhesion deficiency"@en, "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017570 ; + rdfs:label "Leukocyte adhesion deficiency"@en, "ใฏใฃใ‘ใฃใใ‚…ใ†ใ›ใฃใกใ‚ƒใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "LAD"@en ; + skos:closeMatch obo:MONDO_0017570 ; skos:prefLabel "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡"@ja . -:1200356 - :hasNotificationNumber "65" ; - terms:identifier "1200356" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200356" ; + dcterms:source ; a owl:Class ; - rdfs:label "Shwachman-Diamond syndrome"@en, "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Shwachman-Diamond็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009833, mondo:MONDO_0044204 ; + rdfs:label "Shwachman-Diamond syndrome"@en, "ใ—ใ‚…ใ‚ใฃใฏใพใ‚“ใƒปใ ใ„ใ‚ใ‚‚ใ‚“ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "SDS"@en, "Shwachman-Diamond็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009833 ; skos:prefLabel "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค"@ja . -:1200357 - :hasNotificationNumber "65" ; - terms:identifier "1200357" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200357" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic granulomatous disease"@en, "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018305 ; + rdfs:label "Chronic granulomatous disease"@en, "ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CGD"@en ; + skos:closeMatch obo:MONDO_0018305 ; skos:prefLabel "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . -:1200358 - :hasNotificationNumber "65" ; - terms:identifier "1200358" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200358" ; + dcterms:source ; a owl:Class ; - rdfs:label "Myeloperoxidase deficiency"@en, "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009694 ; + rdfs:label "Myeloperoxidase deficiency"@en, "ใฟใˆใ‚ใบใ‚‹ใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009694 ; skos:prefLabel "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200359 - :hasNotificationNumber "65" ; - terms:identifier "1200359" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200359" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mendelian susceptibility to mycobacterial disease"@en, "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Mendelian susceptibility to mycobacterial disease"@en, "ใ‚ใ‚“ใงใ‚‹ใ„ใงใ‚“ใŒใŸใพใ„ใ“ใฐใใฆใ‚Šใ‚ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MSMD"@en ; + skos:closeMatch obo:MONDO_0019146 ; skos:prefLabel "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡"@ja . -:1200360 - :hasNotificationNumber "65" ; - terms:identifier "1200360" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200360" ; + dcterms:source ; a owl:Class ; - rdfs:label "Anhidrotic ectodermal dysplasia with immunodeficiency"@en, "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010293 ; + rdfs:label "Anhidrotic ectodermal dysplasia with immunodeficiency"@en, "ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EDA-ID"@en ; + skos:closeMatch obo:MONDO_0010293 ; skos:prefLabel "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡"@ja . -:1200361 - :hasNotificationNumber "65" ; - terms:identifier "1200361" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200361" ; + dcterms:source ; a owl:Class ; - rdfs:label "IRAK4 deficiency"@en, "IRAK4ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011888 ; + rdfs:label "IRAK4 deficiency"@en, "IRAK4ๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใ‚‰ใฃใ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011888 ; skos:prefLabel "IRAK4ๆฌ ๆ็—‡"@ja . -:1200362 - :hasNotificationNumber "65" ; - terms:identifier "1200362" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200362" ; + dcterms:source ; a owl:Class ; - rdfs:label "MyD88 deficiency"@en, "MyD88ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012839 ; + rdfs:label "MyD88 deficiency"@en, "MyD88ๆฌ ๆ็—‡"@ja, "ใฟใฃใฉ88 / ใพใ„ใงใƒใƒผ88ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012839 ; skos:prefLabel "MyD88ๆฌ ๆ็—‡"@ja . -:1200363 - :hasNotificationNumber "65" ; - terms:identifier "1200363" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200363" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic mucocutaneous candidiasis"@en, "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015279 ; + rdfs:label "Chronic mucocutaneous candidiasis"@en, "ใพใ‚“ใ›ใ„ใฒใตใญใ‚“ใพใใ‹ใ‚“ใ˜ใ ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CMC"@en ; + skos:closeMatch obo:MONDO_0015279 ; skos:prefLabel "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡"@ja . -:1200364 - :hasNotificationNumber "65" ; - terms:identifier "1200364" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200364" ; + dcterms:source ; a owl:Class ; - rdfs:label "Inherited deficiency of complement system"@en, "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Inherited deficiency of complement system"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003832 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja . -:1200365 - :hasNotificationNumber "65" ; - terms:identifier "1200365" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:1200365" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary angioedema"@en, "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Hereditary angioedema"@en, "ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ‹ใ‚“ใ›ใ„ใตใ—ใ‚…"@ja-Hira, "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "C1 inhibitor deficiency"@en, "C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0007361, mondo:MONDO_0019623 ; + skos:closeMatch obo:MONDO_0007361, obo:MONDO_0019623 ; skos:prefLabel "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ"@ja . -:1200366 - :hasNotificationNumber "66" ; - terms:description "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกใ€็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใจๅŸบ่ณชใฎๅข—ๆฎ–ๆ€งๅค‰ๅŒ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎIgAใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆฒˆ็€็‰ฉใจใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚ๅŒ็พฉ่ชžใจใ—ใฆIgA่…Ž็‚Žใ€ใƒใƒผใ‚ธใƒฃใƒผ๏ผˆBuerger๏ผ‰็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎไธ€็—…ๅž‹ใจใ—ใฆ็ขบ็ซ‹ใ—ใฆใ„ใ‚‹ใŒใ€ๆ—ฅๆœฌใซใŠใ„ใฆใฏ1970ๅนดไปฃๅˆๆœŸใ‹ใ‚‰ๆดป็™บใช็ ”็ฉถใŒ่กŒใ‚ใ‚Œใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกๆˆไบบใงใฏ30๏ผ…ไปฅไธŠใ€ๅฐๅ…ใงใ‚‚20๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๆ—ฅๆœฌใจๅŒใ˜ใ‚ˆใ†ใซๆœฌ็—‡ใŒๅคš็™บใ™ใ‚‹ๅ›ฝใจใ—ใฆใฏใ€ใ‚ขใ‚ธใ‚ขๅคชๅนณๆด‹ๅœฐๅŸŸใฎ่ซธๅ›ฝใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅŒ—ๆฌงใ‚„ๅŒ—็ฑณใงใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชๅœฐๅŸŸๅทฎใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚Šใ€ไธ€้ƒจใงใฏ่…Ž็”Ÿๆคœๆ–ฝ่กŒใฎ้ ปๅบฆใจๆฏ”ไพ‹ใ™ใ‚‹ใจใ‚‚ใ„ใ‚ใ‚Œใ€ๅŒ—็ฑณใซใŠใ„ใฆใฏ็™ฝไบบใซใฏๅคšใ„ใŒใ€้ป’ไบบใงใฏใพใ‚Œใงใ‚ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€ไฝ•ใ‚‰ใ‹ใฎไบบ็จฎ็š„ใƒป้บไผ็š„่ƒŒๆ™ฏใ‚‚ๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบใƒปๅฐๅ…ๅ…ฑใซ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ่ฆ‹ๆ™‚ใฎๅนด้ฝขใฏๆˆไบบใงใฏ20ๆญณไปฃใ€ๅฐๅ…ใงใฏ10ๆญณไปฃใŒๅคšใ„ใŒใ€ๆ‚ฃ่€…ๅฑคใฏๅ…จใฆใฎๅนด้ฝขใซใ‚ใŸใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200366" ; - terms:source ; + + nando:hasNotificationNumber "66" ; + dcterms:description "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกใ€็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใจๅŸบ่ณชใฎๅข—ๆฎ–ๆ€งๅค‰ๅŒ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎIgAใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆฒˆ็€็‰ฉใจใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚ๅŒ็พฉ่ชžใจใ—ใฆIgA่…Ž็‚Žใ€ใƒใƒผใ‚ธใƒฃใƒผ๏ผˆBuerger๏ผ‰็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎไธ€็—…ๅž‹ใจใ—ใฆ็ขบ็ซ‹ใ—ใฆใ„ใ‚‹ใŒใ€ๆ—ฅๆœฌใซใŠใ„ใฆใฏ1970ๅนดไปฃๅˆๆœŸใ‹ใ‚‰ๆดป็™บใช็ ”็ฉถใŒ่กŒใ‚ใ‚Œใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใกๆˆไบบใงใฏ30๏ผ…ไปฅไธŠใ€ๅฐๅ…ใงใ‚‚20๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๆ—ฅๆœฌใจๅŒใ˜ใ‚ˆใ†ใซๆœฌ็—‡ใŒๅคš็™บใ™ใ‚‹ๅ›ฝใจใ—ใฆใฏใ€ใ‚ขใ‚ธใ‚ขๅคชๅนณๆด‹ๅœฐๅŸŸใฎ่ซธๅ›ฝใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅŒ—ๆฌงใ‚„ๅŒ—็ฑณใงใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชๅœฐๅŸŸๅทฎใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚Šใ€ไธ€้ƒจใงใฏ่…Ž็”Ÿๆคœๆ–ฝ่กŒใฎ้ ปๅบฆใจๆฏ”ไพ‹ใ™ใ‚‹ใจใ‚‚ใ„ใ‚ใ‚Œใ€ๅŒ—็ฑณใซใŠใ„ใฆใฏ็™ฝไบบใซใฏๅคšใ„ใŒใ€้ป’ไบบใงใฏใพใ‚Œใงใ‚ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€ไฝ•ใ‚‰ใ‹ใฎไบบ็จฎ็š„ใƒป้บไผ็š„่ƒŒๆ™ฏใ‚‚ๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบใƒปๅฐๅ…ๅ…ฑใซ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ่ฆ‹ๆ™‚ใฎๅนด้ฝขใฏๆˆไบบใงใฏ20ๆญณไปฃใ€ๅฐๅ…ใงใฏ10ๆญณไปฃใŒๅคšใ„ใŒใ€ๆ‚ฃ่€…ๅฑคใฏๅ…จใฆใฎๅนด้ฝขใซใ‚ใŸใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200366" ; + dcterms:source ; a owl:Class ; - rdfs:label "IgA Nephropathy"@en, "Ig๏ผก่…Ž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005342 ; + rdfs:label "IgA nephropathy"@en, "Ig๏ผก่…Ž็—‡"@ja, "ใ‚ใ„ใ˜ใƒผใˆใƒผใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005342 ; skos:prefLabel "Ig๏ผก่…Ž็—‡"@ja . -:1200367 - :hasNotificationNumber "67" ; - terms:description "ไธกๅดใฎ่…Ž่‡“ใซๅšข่ƒžใŒ็„กๆ•ฐใซ็”Ÿใ˜ใ‚‹ใ€้บไผๆ€ง็–พๆ‚ฃใ€‚ๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆPolycystic Kidney๏ผ‰ใซใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Dominant Polycystic Kidney Disease๏ผšADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Recessive Polycystic Kidney Disease๏ผšARPKD๏ผ‰ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200367" ; + + nando:hasNotificationNumber "67" ; + dcterms:description "ไธกๅดใฎ่…Ž่‡“ใซๅšข่ƒžใŒ็„กๆ•ฐใซ็”Ÿใ˜ใ‚‹ใ€้บไผๆ€ง็–พๆ‚ฃใ€‚ๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆPolycystic Kidney๏ผ‰ใซใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Dominant Polycystic Kidney Disease๏ผšADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž๏ผˆAutosomal Recessive Polycystic Kidney Disease๏ผšARPKD๏ผ‰ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200367" ; a owl:Class ; - rdfs:label "Polycystic Kidney Disease"@en, "ๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Polycystic kidney"@en ; - skos:closeMatch mondo:MONDO_0020642 ; + rdfs:label "Polycystic kidney disease"@en, "ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“"@ja-Hira, "ๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PKD"@en, "Polycystic kidney"@en ; + skos:closeMatch obo:MONDO_0020642 ; skos:prefLabel "ๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja . -:1200368 - :hasNotificationNumber "67" ; - terms:identifier "1200368" ; - terms:source ; + + nando:hasNotificationNumber "67" ; + dcterms:identifier "NANDO:1200368" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autosomal Dominant Polycystic Kidney Disease"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ADPKD"@en ; - skos:closeMatch mondo:MONDO_0004691 ; + rdfs:label "Autosomal dominant polycystic kidney disease"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ADPKD"@en, "Autosomal dominant PKD"@en ; + skos:closeMatch obo:MONDO_0004691 ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja . -:1200369 - :hasNotificationNumber "67" ; - terms:identifier "1200369" ; - terms:source ; + + nando:hasNotificationNumber "67" ; + dcterms:identifier "NANDO:1200369" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autosomal Recessive Polycystic Kidney Disease"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Autosomal recessive polycystic kidney disease"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "ARPKD"@en ; - skos:closeMatch mondo:MONDO_0009889 ; + skos:closeMatch obo:MONDO_0009889 ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja . -:1200370 - :hasNotificationNumber "68" ; - terms:description "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡๏ผˆthe ossification of the ligamentum flavum๏ผšOLF๏ผ‰ใฏใ€้ป„่‰ฒ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€่ƒธ่…ฐ็งป่กŒ้ƒจใซๅคšใ„ใŒใ€ๅ…จ่„ŠๆŸฑใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่จบๆ–ญใซใฏๅ˜็ด”ใƒฌใƒณใƒˆใ‚ฒใƒณๅ†™็œŸใ€ๆ–ญๅฑคๅ†™็œŸใ‚ใ‚‹ใ„ใฏMRIใ€CTใŒๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคšๆคŽ้–“็ฝนๆ‚ฃไพ‹ใฏ็ด„35๏ผ…ใงใ‚ใ‚‹ใ€‚้ ธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใ€ใ‚ใ‚‹ใ„ใฏ่ƒธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใจๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€่„ŠๆŸฑ็ฎกๅ†…้ฑๅธฏ้ชจๅŒ–ใฎไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200370" ; - terms:source ; + + nando:hasNotificationNumber "68" ; + dcterms:description "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡๏ผˆthe ossification of the ligamentum flavum๏ผšOLF๏ผ‰ใฏใ€้ป„่‰ฒ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€่ƒธ่…ฐ็งป่กŒ้ƒจใซๅคšใ„ใŒใ€ๅ…จ่„ŠๆŸฑใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่จบๆ–ญใซใฏๅ˜็ด”ใƒฌใƒณใƒˆใ‚ฒใƒณๅ†™็œŸใ€ๆ–ญๅฑคๅ†™็œŸใ‚ใ‚‹ใ„ใฏMRIใ€CTใŒๆœ‰็”จใงใ‚ใ‚‹ใ€‚ๅคšๆคŽ้–“็ฝนๆ‚ฃไพ‹ใฏ็ด„35๏ผ…ใงใ‚ใ‚‹ใ€‚้ ธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใ€ใ‚ใ‚‹ใ„ใฏ่ƒธๆคŽๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใจๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€่„ŠๆŸฑ็ฎกๅ†…้ฑๅธฏ้ชจๅŒ–ใฎไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200370" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ossification of Ligamentum Flavum"@en, "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Ossification of the ligamentum flavum"@en ; + rdfs:label "Ossification of ligamentum flavum"@en, "ใŠใ†ใ—ใ‚‡ใใ˜ใ‚“ใŸใ„ใ“ใฃใ‹ใ—ใ‚‡ใ†"@ja-Hira, "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "OLF"@en, "Ossification of the ligamentum flavum"@en ; skos:prefLabel "้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–็—‡"@ja . -:1200371 - :hasNotificationNumber "69" ; - terms:description "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใฏใ€่„ŠๆคŽๆคŽไฝ“ใฎๅพŒ็ธใ‚’้€ฃ็ตใ—ใ€่„ŠๆŸฑใฎใปใผๅ…จ้•ทใ‚’็ธฆ่ตฐใ™ใ‚‹ๅพŒ็ธฆ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ŠๆคŽ็ฎก็‹ญ็ช„ใ‚’ๆฅใ—ใ€่„Š้ซ„ๅˆใฏ็ฅž็ตŒๆ นใฎๅœง่ฟซ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ธๆคŽใซๆœ€ใ‚‚ๅคšใ„ใŒใ€่ƒธๆคŽใ‚„่…ฐๆคŽใซใ‚‚็”Ÿใ˜ใ‚‹ใ€‚ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ๆ‚ฃ่€…ใงใฏใ€ๅ‰็ธฆ้ฑๅธฏ้ชจๅŒ–ใ‚’ไธญๅฟƒใจใ—ใฆใ€ๅบƒๆฑŽใซ่„ŠๆŸฑ้ฑๅธฏ้ชจๅŒ–ใ‚’ๆฅใ™ๅผท็›ดๆ€ง่„ŠๆคŽ้ชจๅข—ๆฎ–็—‡ใ‚’็ด„40๏ผ…ใซๅˆไฝตใ—ใ€ใพใŸ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–ใ‚„ๆฃ˜ไธŠ้ฑๅธฏ้ชจๅŒ–ใฎๅˆไฝตใ‚‚ๅคšใใ€่„ŠๆคŽ้ฑๅธฏ้ชจๅŒ–ใฎไธ€้ƒจๅˆ†็—‡ใจใ—ใฆๆ‰ใˆใ‚‹่€ƒใˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200371" ; - terms:source ; - a owl:Class ; - rdfs:label "Ossification of posterior longitudinal ligament"@en, "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011230 ; + + nando:hasNotificationNumber "69" ; + dcterms:description "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ใฏใ€่„ŠๆคŽๆคŽไฝ“ใฎๅพŒ็ธใ‚’้€ฃ็ตใ—ใ€่„ŠๆŸฑใฎใปใผๅ…จ้•ทใ‚’็ธฆ่ตฐใ™ใ‚‹ๅพŒ็ธฆ้ฑๅธฏใŒ้ชจๅŒ–ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ŠๆคŽ็ฎก็‹ญ็ช„ใ‚’ๆฅใ—ใ€่„Š้ซ„ๅˆใฏ็ฅž็ตŒๆ นใฎๅœง่ฟซ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ธๆคŽใซๆœ€ใ‚‚ๅคšใ„ใŒใ€่ƒธๆคŽใ‚„่…ฐๆคŽใซใ‚‚็”Ÿใ˜ใ‚‹ใ€‚ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡ๆ‚ฃ่€…ใงใฏใ€ๅ‰็ธฆ้ฑๅธฏ้ชจๅŒ–ใ‚’ไธญๅฟƒใจใ—ใฆใ€ๅบƒๆฑŽใซ่„ŠๆŸฑ้ฑๅธฏ้ชจๅŒ–ใ‚’ๆฅใ™ๅผท็›ดๆ€ง่„ŠๆคŽ้ชจๅข—ๆฎ–็—‡ใ‚’็ด„40๏ผ…ใซๅˆไฝตใ—ใ€ใพใŸ้ป„่‰ฒ้ฑๅธฏ้ชจๅŒ–ใ‚„ๆฃ˜ไธŠ้ฑๅธฏ้ชจๅŒ–ใฎๅˆไฝตใ‚‚ๅคšใใ€่„ŠๆคŽ้ฑๅธฏ้ชจๅŒ–ใฎไธ€้ƒจๅˆ†็—‡ใจใ—ใฆๆ‰ใˆใ‚‹่€ƒใˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200371" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ossification of posterior longitudinal ligament"@en, "ใ“ใ†ใ˜ใ‚…ใ†ใ˜ใ‚“ใŸใ„ใ“ใฃใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "OPLL"@en, "OPLL"@ja, "Ossification of the posterior longitudinal ligament"@en ; + skos:closeMatch obo:MONDO_0011230 ; skos:prefLabel "ๅพŒ็ธฆ้ฑๅธฏ้ชจๅŒ–็—‡"@ja . -:1200372 - :hasNotificationNumber "70" ; - terms:description "้ ธใ€่ƒธใ€่…ฐๆคŽ้ƒจใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹่„ŠๆŸฑ็ฎก็‹ญๅฐใซใ‚ˆใ‚Šใ€่„Š้ซ„ใ€้ฆฌๅฐพ็ฅž็ตŒๅˆใฏ็ฅž็ตŒๆ นใฎ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚"@ja ; - terms:identifier "1200372" ; - terms:source ; - a owl:Class ; - rdfs:label "Coexisting Cervical and Lumbar Spinal Stenosis"@en, "ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Spinal stenosis"@en ; - skos:closeMatch mondo:MONDO_0005965 ; + + nando:hasNotificationNumber "70" ; + dcterms:description "้ ธใ€่ƒธใ€่…ฐๆคŽ้ƒจใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹่„ŠๆŸฑ็ฎก็‹ญๅฐใซใ‚ˆใ‚Šใ€่„Š้ซ„ใ€้ฆฌๅฐพ็ฅž็ตŒๅˆใฏ็ฅž็ตŒๆ นใฎ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:1200372" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Coexisting cervical and lumbar spinal stenosis"@en, "ใ“ใ†ใฏใ‚“ใ›ใใกใ‚…ใ†ใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005965 ; skos:prefLabel "ๅบƒ็ฏ„่„ŠๆŸฑ็ฎก็‹ญ็ช„็—‡"@ja . -:1200373 - :hasNotificationNumber "71" ; - terms:description "ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฏใ€ๅคง่…ฟ้ชจ้ ญใŒ้˜ป่ก€ๆ€งๅฃŠๆญปใซ้™ฅใฃใฆๅœงๆฝฐใ—ใ€่‚ก้–ข็ฏ€ๆฉŸ่ƒฝใŒๅคฑใ‚ใ‚Œใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎใ†ใกใ€ ่„ฑ่‡ผใ‚„้ชจๆŠ˜ใชใฉใฎ้˜ป่ก€ๅŽŸๅ› ใŒๆ˜Žใ‚‰ใ‹ใงใ‚ใ‚‹ๅ ดๅˆไปฅๅค–ใŒ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎๆฒป็™‚ใฏ้•ทๆœŸ้–“ใซๅŠใถใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅŒป็™‚็ตŒๆธˆๅญฆ็š„ใซๅ•้กŒใŒๅคงใใ„ใ€‚ใพใŸใ€้’ใƒปๅฃฎๅนดๆœŸใซๅฅฝ็™บใ—ใฆๅŠดๅƒ่ƒฝๅŠ›ใ‚’่‘—ใ—ใไฝŽไธ‹ใ•ใ›ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅŠดๅƒ็ตŒๆธˆๅญฆ็š„ใซใ‚‚ๅคงใใชๆๅคฑใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎQOLใซๅคงใใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใซ้ฉๅˆ‡ใช่จบๆ–ญใ‚’่กŒใ„ใ€้ฉๅˆ‡ใชๆฒป็™‚ใธใจ็ตใณใคใ‘ใฆใ„ใๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200373" ; - terms:source ; - a owl:Class ; - rdfs:label "Idiopathic Osteonecrosis of Femoral Head"@en, "็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Idiopathic osteonecrosis of the femoral head"@en ; + + nando:hasNotificationNumber "71" ; + dcterms:description "ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฏใ€ๅคง่…ฟ้ชจ้ ญใŒ้˜ป่ก€ๆ€งๅฃŠๆญปใซ้™ฅใฃใฆๅœงๆฝฐใ—ใ€่‚ก้–ข็ฏ€ๆฉŸ่ƒฝใŒๅคฑใ‚ใ‚Œใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎใ†ใกใ€ ่„ฑ่‡ผใ‚„้ชจๆŠ˜ใชใฉใฎ้˜ป่ก€ๅŽŸๅ› ใŒๆ˜Žใ‚‰ใ‹ใงใ‚ใ‚‹ๅ ดๅˆไปฅๅค–ใŒ็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡ใฎๆฒป็™‚ใฏ้•ทๆœŸ้–“ใซๅŠใถใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅŒป็™‚็ตŒๆธˆๅญฆ็š„ใซๅ•้กŒใŒๅคงใใ„ใ€‚ใพใŸใ€้’ใƒปๅฃฎๅนดๆœŸใซๅฅฝ็™บใ—ใฆๅŠดๅƒ่ƒฝๅŠ›ใ‚’่‘—ใ—ใไฝŽไธ‹ใ•ใ›ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅŠดๅƒ็ตŒๆธˆๅญฆ็š„ใซใ‚‚ๅคงใใชๆๅคฑใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎQOLใซๅคงใใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใซ้ฉๅˆ‡ใช่จบๆ–ญใ‚’่กŒใ„ใ€้ฉๅˆ‡ใชๆฒป็™‚ใธใจ็ตใณใคใ‘ใฆใ„ใๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200373" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic osteonecrosis of femoral head"@en, "ใจใใฏใคใ›ใ„ใ ใ„ใŸใ„ใ“ใคใจใ†ใˆใ—ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ION"@en, "Idiopathic osteonecrosis of the femoral head"@en ; + skos:closeMatch obo:MONDO_0012126 ; skos:prefLabel "็‰น็™บๆ€งๅคง่…ฟ้ชจ้ ญๅฃŠๆญป็—‡"@ja . -:1200374 - :hasNotificationNumber "72" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200374" ; + + nando:hasNotificationNumber "72" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200374" ; a owl:Class ; - rdfs:label "Diencephalo-hypophysial Insufficiency-Inappropriate ADH Syndrome"@en, "ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Pituitary ADH secretion disorders"@en ; + rdfs:label "Diencephalo-hypophysial insufficiency-inappropriate ADH syndrome"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใˆใƒผใงใƒใƒผใˆใ„ใกใถใ‚“ใดใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Pituitary ADH secretion disorders"@en, "SIADH"@en, "Syndrome of inappropriate ADH secretion"@en ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆ€งADHๅˆ†ๆณŒ็•ฐๅธธ็—‡"@ja . -:1200375 - :hasNotificationNumber "72" ; - terms:identifier "1200375" ; - terms:source ; + + nando:hasNotificationNumber "72" ; + dcterms:identifier "NANDO:1200375" ; + dcterms:source ; a owl:Class ; - rdfs:label "Central diabetes insipidus"@en, "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Central diabetes insipidus"@en, "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - skos:closeMatch mondo:MONDO_0007450, mondo:MONDO_0015790 ; + skos:closeMatch obo:MONDO_0015790 ; skos:prefLabel "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja . -:1200376 - :hasNotificationNumber "72" ; - terms:identifier "1200376" ; - terms:source ; - a owl:Class ; - rdfs:label "Syndrome of inappropriate secretion of antidiuretic hormone"@en, "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "SIADH"@en ; - skos:closeMatch mondo:MONDO_0006802 ; - skos:prefLabel "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡"@ja . - -:1200377 - :hasNotificationNumber "73" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200377" ; - terms:source ; - a owl:Class ; - rdfs:label "Diencephalo-hypophysial Insufficiency-Inappropriate Thyroid stimulating Hormone Syndrome"@en, "ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "TSH-secreting pituitary adenoma"@en ; - skos:closeMatch mondo:MONDO_0019611 ; + + nando:hasNotificationNumber "72" ; + dcterms:identifier "NANDO:1200376" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Syndrome of inappropriate secretion of antidiuretic hormone"@en, "ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ADHๅˆ†ๆณŒไบข้€ฒ็—‡"@ja, "SIADH"@en, "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡"@ja ; + skos:closeMatch obo:MONDO_0006802 ; + skos:prefLabel "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "73" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200377" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใฆใƒใƒผใˆใ™ใˆใ„ใกใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Syndrome of inappropriate TSH secretion"@en, "Syndrome of inappropriate thyroid-stimulating hormone secretion"@en, "TSH-secreting pituitary adenoma"@en ; + skos:closeMatch obo:MONDO_0019611 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆ€งTSHๅˆ†ๆณŒไบข้€ฒ็—‡"@ja . -:1200378 - :hasNotificationNumber "74" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200378" ; - terms:source ; - a owl:Class ; - rdfs:label "Diencephalo-hypophysial Insufficiency-Inappropriate Prolactin Syndrome"@en, "ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Prolactin secreting pituitary adenoma"@en ; - skos:closeMatch mondo:MONDO_0010911 ; + + nando:hasNotificationNumber "74" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200378" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใดใƒผใ‚ใƒผใ‚‹ใˆใ‚‹ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Inappropriate prolactin secretion syndrome"@en, "PRL-secreting pituitary adenoma"@en, "Prolactin secreting pituitary adenoma"@en ; + skos:closeMatch obo:MONDO_0010911 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆ€งPRLๅˆ†ๆณŒไบข้€ฒ็—‡"@ja . -:1200379 - :hasNotificationNumber "75" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200379" ; - terms:source ; - a owl:Class ; - rdfs:label "Cushing's Disease"@en, "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Cushing disease"@en ; - skos:closeMatch mondo:MONDO_0003009, mondo:MONDO_0009050, mondo:MONDO_0018912 ; + + nando:hasNotificationNumber "75" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200379" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cushing disease"@en, "ใใฃใ—ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Cushing's Disease"@en, "Cushing็—…"@ja ; + skos:closeMatch obo:MONDO_0009050 ; skos:prefLabel "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…"@ja . -:1200380 - :hasNotificationNumber "76" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200380" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200380" ; + dcterms:source ; a owl:Class ; - rdfs:label "Diencephalo-hypophysial dysfunction-Syndrome of abnormal secretion of Gonadotropin"@en, "ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of gonadotropin"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Pituitary gonadotropin secretion hyperthyroidism"@en ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไบข้€ฒ็—‡"@ja . -:1200381 - :hasNotificationNumber "76" ; - terms:identifier "1200381" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:identifier "NANDO:1200381" ; + dcterms:source ; a owl:Class ; - rdfs:label "Central precocious puberty"@en, "ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Central precocious puberty"@en, "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†"@ja-Hira, "ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "ไธญๆžขๆ€งๆ€งๆ—ฉ็†Ÿ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0019165 ; + skos:closeMatch obo:MONDO_0019165 ; skos:prefLabel "ไธญๆžขๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja . -:1200382 - :hasNotificationNumber "76" ; - terms:identifier "1200382" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:identifier "NANDO:1200382" ; + dcterms:source ; a owl:Class ; - rdfs:label "idiopathic hypogonadotropic hypogonadism"@en, "็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007794 ; + rdfs:label "Idiopathic hypogonadotropic hypogonadism"@en, "ใจใใฏใคใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007794 ; skos:prefLabel "็‰น็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . -:1200383 - :hasNotificationNumber "76" ; - terms:identifier "1200383" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:identifier "NANDO:1200383" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital hypogonadotropic hypogonadism"@en, "ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015770 ; + rdfs:label "Congenital hypogonadotropic hypogonadism"@en, "ใ‹ใžใใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015770 ; skos:prefLabel "ๅฎถๆ—ๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . -:1200384 - :hasNotificationNumber "76" ; - terms:identifier "1200384" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:identifier "NANDO:1200384" ; + dcterms:source ; a owl:Class ; - rdfs:label "acquired hypogonadotropic hypogonadism"@en, "็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Acquired hypogonadotropic hypogonadism"@en, "ใžใใฏใคใ›ใ„ใ”ใชใฉใจใ‚ใดใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็ถš็™บๆ€งใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . -:1200385 - :hasNotificationNumber "76" ; - terms:identifier "1200385" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:identifier "NANDO:1200385" ; + dcterms:source ; a owl:Class ; - rdfs:label "GH secreting pituitary adenoma"@en, "ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Growth hormone secreting pituitary adenoma"@en, "ใ‹ใ™ใ„ใŸใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GH secreting pituitary adenoma"@en ; + skos:closeMatch obo:MONDO_0006238 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ็”ฃ็”Ÿ่…ซ็˜"@ja . -:1200386 - :hasNotificationNumber "77" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200386" ; - terms:source ; + + nando:hasNotificationNumber "77" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200386" ; + dcterms:source ; a owl:Class ; - rdfs:label "Diencephalo-hypophysial dysfunction-Syndrome of abnormal secretion of Growth hormone"@en, "ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Growth hormone secreting pituitary adenoma"@en ; - skos:closeMatch mondo:MONDO_0006238 ; + skos:closeMatch obo:MONDO_0006238 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒ็—‡"@ja . -:1200387 - :hasNotificationNumber "78" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200387" ; + + nando:hasNotificationNumber "78" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ADHใ€ACTHใ€TSHใ€GHใ€LHใ€FSHใ€PRLใฎๅ˜็‹ฌใชใ„ใ—่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ้šœๅฎณใ‚ใ‚‹ใ„ใฏๅˆ†ๆณŒไบข้€ฒใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆๆœซๆขขใƒ›ใƒซใƒขใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏ้Žๅ‰ฐใซใ‚ˆใ‚‹ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏใ€ไธ‹ๅž‚ไฝ“่‡ชไฝ“ใฎ้šœๅฎณใจใ€ไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎ้šœๅฎณๅŠใณไธก่€…ใ‚’้€ฃ็ตใ™ใ‚‹ไธ‹ๅž‚ไฝ“่ŒŽ้ƒจใฎ้šœๅฎณใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฎŸ้š›ใฏ้šœๅฎณ้ƒจไฝใŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซใพใŸใŒใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๅ…จใฆใฎๅ‰่‘‰ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’ๆฑŽไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒ็จฎใ€…ใฎ็จ‹ๅบฆใซ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ƒจๅˆ†ๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใพใŸใ€ๅ˜ไธ€ใฎใƒ›ใƒซใƒขใƒณใฎใฟใŒๆฌ ๆใ™ใ‚‹ใ‚‚ใฎใฏใ€ๅ˜็‹ฌๆฌ ๆ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€ๅˆ†ๆณŒไบข้€ฒใฏ้€šๅธธๅ˜็‹ฌใฎใƒ›ใƒซใƒขใƒณใฎใฟใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200387" ; a owl:Class ; - rdfs:label "Hypopituitarism Syndrome"@en, "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Hypopituitarism syndrome"@en, "ใ‹ใ™ใ„ใŸใ„ใœใ‚“ใ‚ˆใ†ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Hypopituitarism"@en ; - skos:closeMatch mondo:MONDO_0005152 ; + skos:closeMatch obo:MONDO_0005152 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:1200388 - :hasNotificationNumber "78" ; - terms:identifier "1200388" ; - terms:source ; - a owl:Class ; - rdfs:label "hypogonadotropic hypogonadism"@en, "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006823, mondo:MONDO_0018555 ; - skos:prefLabel "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . - -:1200389 - :hasNotificationNumber "78" ; - terms:identifier "1200389" ; - terms:source ; - a owl:Class ; - rdfs:label "Syndrome of abnormal secretion of adrenocorticotropic hormone"@en, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ACTHๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + + nando:hasNotificationNumber "78" ; + dcterms:identifier "NANDO:1200388" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypogonadotropic hypogonadism"@en, "ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + skos:closeMatch obo:MONDO_0018555 ; + skos:prefLabel "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . + + + nando:hasNotificationNumber "78" ; + dcterms:identifier "NANDO:1200389" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Syndrome of abnormal secretion of adrenocorticotropic hormone"@en, "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ACTHๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja, "Adrenocorticotropic hormone deficiency"@en ; skos:prefLabel "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . -:1200390 - :hasNotificationNumber "78" ; - terms:identifier "1200390" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:identifier "NANDO:1200390" ; + dcterms:source ; a owl:Class ; - rdfs:label "Syndrome of abnormal secretion of thyroid-stimulating hormone"@en, "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Thyroid-stimulating hormone deficiency"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "TSHๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + skos:closeMatch obo:MONDO_0016410 ; skos:prefLabel "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . -:1200391 - :hasNotificationNumber "78" ; - terms:identifier "1200391" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:identifier "NANDO:1200391" ; + dcterms:source ; a owl:Class ; - rdfs:label "GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰"@ja, "Growth hormone secretion deficiency of dwarfism"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๅฐๅ…๏ผ‰"@ja ; + rdfs:label "GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰"@ja, "Growth hormone secretion deficiency of dwarfism"@en, "ใ˜ใƒผใˆใ„ใกใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ‚‡ใ†ใซ๏ผ‰"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Growth hormone deficiency"@en, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๅฐๅ…๏ผ‰"@ja ; skos:prefLabel "GH ๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆๅฐๅ…๏ผ‰"@ja . -:1200392 - :hasNotificationNumber "78" ; - terms:identifier "1200392" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:identifier "NANDO:1200392" ; + dcterms:source ; a owl:Class ; - rdfs:label "Adult growth hormone deficiency"@en, "ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Adult growth hormone deficiency"@en, "ใ›ใ„ใ˜ใ‚“ใ˜ใƒผใˆใ„ใกใถใ‚“ใดใคใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆๆˆไบบ๏ผ‰"@ja ; skos:prefLabel "ๆˆไบบGH ๅˆ†ๆณŒไธๅ…จ็—‡"@ja . -:1200393 - :hasNotificationNumber "78" ; - terms:identifier "1200393" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:identifier "NANDO:1200393" ; + dcterms:source ; a owl:Class ; - rdfs:label "Syndrome of abnormal secretion of Prolactin"@en, "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:label "Syndrome of abnormal secretion of prolactin"@en, "ใทใ‚ใ‚‰ใใกใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PRLๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja, "Prolactin deficiency"@en ; skos:prefLabel "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . -:1200394 - :hasNotificationNumber "79" ; - terms:description "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆfamilial hypercholesterolaemia๏ผšFH๏ผ‰ใฏใ€LDLๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ˜ไธ€้บไผๅญ็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ๆ‚ฃ่€…ใฏ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎ้ ปๅบฆใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚FHใฏ้ซ˜LDL-ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใ€่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็กฌๅŒ–็—‡ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใจใƒ›ใƒขๆŽฅๅˆไฝ“ใฏใ€ๅ‡บ็พใ™ใ‚‹็—‡็Šถใ‚„็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅ€คใฎ็จ‹ๅบฆใ€ๆฒป็™‚ใธใฎๅๅฟœๆ€งใŒๅ…จใ็•ฐใชใ‚Šใ€ใใฎ็ฎก็†ใซใŠใ„ใฆใ‚‚ๅ…จใๅˆฅใฎๅ–ใ‚Šๆ‰ฑใ„ใ‚’ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200394" ; - terms:source ; - a owl:Class ; - rdfs:label "Familial Hypercholesterolemia ๏ผˆHomozygote ๏ผ‰"@en, "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Homozygous familial hypercholesterolemia"@en ; - skos:closeMatch mondo:MONDO_0018328 ; - skos:prefLabel "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰"@ja . - -:1200395 - :hasNotificationNumber "80" ; - terms:description "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡๏ผˆSyndrome of Resistance to Thyroid Hormone๏ผšRTH๏ผ‰ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967ๅนดใ€Refetoffใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚RTHใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“๏ผˆTR๏ผ‰ใ‚’ไป‹ใ—ใŸไฝœ็”จใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑๅž‹TR๏ผˆTRฮฑ๏ผ‰ใจTRฮฒใฎ๏ผ’ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85๏ผ…ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒใฎ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆฎ‹ใ‚Šใฎ็ด„15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใŒใ€TRฮฒ้บไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใงTRฮฒใฎๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนดTRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒใฎๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸใ€‚"@ja ; - terms:identifier "1200395" ; - terms:source ; - a owl:Class ; - rdfs:label "Syndrome of Resistance to Thyroid Hormone"@en, "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Resistance to thyroid hormone"@en, "Thyroid hormone insensitivity syndrome"@en ; + + nando:hasNotificationNumber "79" ; + dcterms:description "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆfamilial hypercholesterolaemia๏ผšFH๏ผ‰ใฏใ€LDLๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ˜ไธ€้บไผๅญ็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ๆ‚ฃ่€…ใฏ100ไธ‡ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใฎ้ ปๅบฆใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚FHใฏ้ซ˜LDL-ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใ€่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็กฌๅŒ–็—‡ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใจใƒ›ใƒขๆŽฅๅˆไฝ“ใฏใ€ๅ‡บ็พใ™ใ‚‹็—‡็Šถใ‚„็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅ€คใฎ็จ‹ๅบฆใ€ๆฒป็™‚ใธใฎๅๅฟœๆ€งใŒๅ…จใ็•ฐใชใ‚Šใ€ใใฎ็ฎก็†ใซใŠใ„ใฆใ‚‚ๅ…จใๅˆฅใฎๅ–ใ‚Šๆ‰ฑใ„ใ‚’ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200394" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Homozygous familial hypercholesterolemia"@en, "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใปใ‚‚ใ›ใคใ”ใ†ใŸใ„"@ja-Hira, "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FHใƒ›ใƒขๆŽฅๅˆไฝ“"@ja, "Homozygous FH"@en, "Homozygous familial hypercholesterolaemia"@en ; + skos:closeMatch obo:MONDO_0018328 ; + skos:prefLabel "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“"@ja . + + + nando:hasNotificationNumber "80" ; + dcterms:description "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡๏ผˆSyndrome of Resistance to Thyroid Hormone๏ผšRTH๏ผ‰ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967ๅนดใ€Refetoffใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚RTHใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“๏ผˆTR๏ผ‰ใ‚’ไป‹ใ—ใŸไฝœ็”จใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑๅž‹TR๏ผˆTRฮฑ๏ผ‰ใจTRฮฒใฎ๏ผ’ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85๏ผ…ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒใฎ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆฎ‹ใ‚Šใฎ็ด„15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใŒใ€TRฮฒ้บไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใงTRฮฒใฎๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนดTRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒใฎๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200395" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Resistance to thyroid hormone"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "RTH"@en, "Syndrome of Resistance to Thyroid Hormone"@en, "Thyroid hormone insensitivity syndrome"@en ; + skos:closeMatch obo:MONDO_0001328, obo:MONDO_0010131 ; skos:prefLabel "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja . -:1200396 - :hasNotificationNumber "81" ; - terms:description "ๅ‰ฏ่…Ž็šฎ่ณชใงใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žๆ€งใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใŒ็”ฃ็”Ÿใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใฏใ€ใ“ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใ‚’ไฝœใ‚‹้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใง่ตทใ“ใ‚‹็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒไฝœใ‚‰ใ‚Œใ‚‹้Ž็จ‹ใซใฏไบ”ใคใฎใƒใƒˆใ‚ฏใƒญใƒผใƒ ้…ต็ด ๏ผˆP450๏ผ‰ใจ3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผใฎๅ…ญใคใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใจใ—ใฆๅ…ญใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ“ใจใซใชใ‚‹ใ€‚ใ“ใฎใ†ใกใ€็‰นใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Šใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTH๏ผˆๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผ‰ใŒ้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹็ตๆžœๅ‰ฏ่…ŽใŒ้Žๅฝขๆˆใ‚’ๆฅใ™ใ‚‚ใฎใ‚’ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใจๅ‘ผใถใ€‚ใ“ใ‚Œใซใฏใ€ใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ใ€21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผ๏ผˆ3ฮฒ-HSD๏ผ‰ๆฌ ๆ็—‡ใฎไบ”ใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใ€้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใŒใงใใชใ„ใ‚‚ใฎใงใ€้Žๅ‰ฐใชACTHๅˆ†ๆณŒ้Žๅ‰ฐใ‚’ๆฅใ•ใชใ„ใ‚‚ใฎใจใ—ใฆ18-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚้…็™บๅž‹ใ‚’็คบใ™ใ‚‚ใฎใฏ21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใงใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ›ดใซๆœ€่ฟ‘ใงใฏใ€21ๆฐด้…ธๅŒ–้…ต็ด ใ€17ฮฑๆฐด้…ธๅŒ–้…ต็ด ๆดปๆ€งใŒใจใ‚‚ใซไฝŽไธ‹ใ—ใ€้ชจๅฅ‡ๅฝขใ‚’ไผดใ†้…ต็ด ๆฌ ๆ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผˆP450 ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€‚"@ja ; - terms:identifier "1200396" ; + + nando:hasNotificationNumber "81" ; + dcterms:description "ๅ‰ฏ่…Ž็šฎ่ณชใงใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žๆ€งใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใŒ็”ฃ็”Ÿใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใฏใ€ใ“ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใ‚’ไฝœใ‚‹้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใง่ตทใ“ใ‚‹็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒไฝœใ‚‰ใ‚Œใ‚‹้Ž็จ‹ใซใฏไบ”ใคใฎใƒใƒˆใ‚ฏใƒญใƒผใƒ ้…ต็ด ๏ผˆP450๏ผ‰ใจ3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผใฎๅ…ญใคใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡ใจใ—ใฆๅ…ญใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ“ใจใซใชใ‚‹ใ€‚ใ“ใฎใ†ใกใ€็‰นใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Šใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTH๏ผˆๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผ‰ใŒ้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹็ตๆžœๅ‰ฏ่…ŽใŒ้Žๅฝขๆˆใ‚’ๆฅใ™ใ‚‚ใฎใ‚’ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใจๅ‘ผใถใ€‚ใ“ใ‚Œใซใฏใ€ใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡ใ€21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผ๏ผˆ3ฮฒ-HSD๏ผ‰ๆฌ ๆ็—‡ใฎไบ”ใคใฎ็—…ๆฐ—ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใ€้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใŒใงใใชใ„ใ‚‚ใฎใงใ€้Žๅ‰ฐใชACTHๅˆ†ๆณŒ้Žๅ‰ฐใ‚’ๆฅใ•ใชใ„ใ‚‚ใฎใจใ—ใฆ18-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚้…็™บๅž‹ใ‚’็คบใ™ใ‚‚ใฎใฏ21ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใงใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ›ดใซๆœ€่ฟ‘ใงใฏใ€21ๆฐด้…ธๅŒ–้…ต็ด ใ€17ฮฑๆฐด้…ธๅŒ–้…ต็ด ๆดปๆ€งใŒใจใ‚‚ใซไฝŽไธ‹ใ—ใ€้ชจๅฅ‡ๅฝขใ‚’ไผดใ†้…ต็ด ๆฌ ๆ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผˆP450 ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:1200396" ; a owl:Class ; - rdfs:label "Congenital Adrenal Enzyme Deficiency"@en, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Congenital adrenal enzyme deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Congenial adrenal cortex enzyme deficiency"@en, "Congenital adrenal hyperplasia"@en ; - skos:closeMatch mondo:MONDO_0015898, mondo:MONDO_0018479 ; + skos:closeMatch obo:MONDO_0018479 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200397 - :hasNotificationNumber "81" ; - terms:identifier "1200397" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital Lipoid Adrenal Hyperplasia"@en, "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018479 ; - skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡"@ja . - -:1200398 - :hasNotificationNumber "81" ; - terms:identifier "1200398" ; - terms:source ; - a owl:Class ; - rdfs:label "3ฮฒ-Hydroxysteroid Dehydrogenase Deficiency"@en, "3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "๏ผ“ฮฒ-HSDๆฌ ๆ็—‡"@ja ; + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:1200397" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital lipoid adrenal hyperplasia"@en, "ใ‚Šใฝใ„ใฉใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0018479 ; + skos:prefLabel "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:1200398" ; + dcterms:source ; + a owl:Class ; + rdfs:label "3-ฮฒ-Hydroxysteroid dehydrogenase deficiency"@en, "3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja, "3ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "3-HSDๆฌ ๆ็—‡"@ja, "3-beta-Hydroxysteroid dehydrogenase deficiency"@en, "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ฒใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008727 ; skos:prefLabel "3ฮฒโˆ’ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200399 - :hasNotificationNumber "81" ; - terms:identifier "1200399" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:1200399" ; + dcterms:source ; a owl:Class ; - rdfs:label "21-Hydroxylase deficiency"@en, "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008728 ; + rdfs:label "21-Hydroxylase deficiency"@en, "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja, "21ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008728 ; skos:prefLabel "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200400 - :hasNotificationNumber "81" ; - terms:identifier "1200400" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:1200400" ; + dcterms:source ; a owl:Class ; - rdfs:label "11ฮฒ-Hydroxylase deficiency"@en, "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "11-ฮฒ-Hydroxylase deficiency"@en, "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja, "11ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "11-beta-hydroxylase deficiency"@en ; + skos:closeMatch obo:MONDO_0008729 ; skos:prefLabel "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200401 - :hasNotificationNumber "81" ; - terms:identifier "1200401" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:1200401" ; + dcterms:source ; a owl:Class ; - rdfs:label "17ฮฑ-Hydroxylase deficiency"@en, "17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "17-ฮฑ-Hydroxylase deficiency"@en, "17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja, "17ใ‚ใ‚‹ใตใใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "17-alpha-hydroxylase deficiency"@en ; + skos:closeMatch obo:MONDO_0008730 ; skos:prefLabel "17ฮฑโˆ’ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200402 - :hasNotificationNumber "81" ; - terms:identifier "1200402" ; - terms:source ; - a owl:Class ; - rdfs:label "P450 Oxidoreductase deficiency"@en, "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "PORๆฌ ๆ็—‡"@ja ; - skos:prefLabel "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . - -:1200403 - :hasNotificationNumber "82" ; - terms:description "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ใฏใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200403" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital adrenal hypoplasia"@en, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "X-linked congenital adrenal hypoplasia"@en ; - skos:closeMatch mondo:MONDO_0010264, mondo:MONDO_0016241 ; + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:1200402" ; + dcterms:source ; + a owl:Class ; + rdfs:label "P450 oxidoreductase deficiency"@en, "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja, "ใดใƒผ450ใ•ใ‚“ใ‹ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja, "PORD"@en, "PORๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0013310 ; + skos:prefLabel "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "82" ; + dcterms:description "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡ใฏใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200403" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital adrenal hypoplasia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ"@ja ; + skos:closeMatch obo:MONDO_0010264, obo:MONDO_0016241 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡"@ja . -:1200404 - :hasNotificationNumber "82" ; - terms:identifier "1200404" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:identifier "NANDO:1200404" ; + dcterms:source ; a owl:Class ; - rdfs:label "DAX-1็•ฐๅธธ็—‡"@ja, "DAX1 abnormality"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DAX-1็•ฐๅธธ็—‡"@ja, "DAX1 abnormality"@en, "ใ ใฃใใ™1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "X-linked congenital adrenal hypoplasia"@en, "X้€ฃ้Ž–ๆ€งๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010226 ; skos:prefLabel "DAX-1็•ฐๅธธ็—‡"@ja . -:1200405 - :hasNotificationNumber "82" ; - terms:identifier "1200405" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:identifier "NANDO:1200405" ; + dcterms:source ; a owl:Class ; - rdfs:label "SF-1 abnormality"@en, "SF-1็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "SF-1 abnormality"@en, "SF-1็•ฐๅธธ็—‡"@ja, "ใˆใ™ใˆใต1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "SF-1/Ad4BP็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0013066 ; skos:prefLabel "SF-1็•ฐๅธธ็—‡"@ja . -:1200406 - :hasNotificationNumber "82" ; - terms:identifier "1200406" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:identifier "NANDO:1200406" ; + dcterms:source ; a owl:Class ; - rdfs:label "IMAGe syndrome"@en, "IMAge็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013873 ; + rdfs:label "IMAge syndrome"@en, "IMAge็—‡ๅ€™็พค"@ja, "ใ„ใ‚ใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013873 ; skos:prefLabel "IMAge็—‡ๅ€™็พค"@ja . -:1200407 - :hasNotificationNumber "82" ; - terms:identifier "1200407" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:identifier "NANDO:1200407" ; + dcterms:source ; a owl:Class ; - rdfs:label "ACTH unresponsiveness"@en, "ACTHไธๅฟœ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ACTHไธๅฟœ็—‡"@ja . + rdfs:label "ACTH unresponsiveness"@en, "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ACTHไธๅฟœ็—‡"@ja, "Adrenocorticotropic hormone insensitivity"@en, "Adrenocorticotropic hormone unresponsiveness"@en, "Adrenocorticotropin unresponsiveness"@en ; + skos:prefLabel "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja . -:1200408 - :hasNotificationNumber "82" ; - terms:identifier "1200408" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:identifier "NANDO:1200408" ; + dcterms:source ; a owl:Class ; - rdfs:label "MC2R deficiency"@en, "MC2R็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "MC2R deficiency"@en, "MC2R็•ฐๅธธ็—‡"@ja, "ใˆใ‚€ใ—ใƒผ2ใ‚ใƒผใ‚‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024536 ; skos:prefLabel "MC2R็•ฐๅธธ็—‡"@ja . -:1200409 - :hasNotificationNumber "82" ; - terms:identifier "1200409" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:identifier "NANDO:1200409" ; + dcterms:source ; a owl:Class ; - rdfs:label "MRAP deficiency"@en, "MRAP็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "MRAP deficiency"@en, "MRAP็•ฐๅธธ็—‡"@ja, "ใˆใ‚€ใ‚ใƒผใ‚‹ใˆใƒผใดใƒผใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011826 ; skos:prefLabel "MRAP็•ฐๅธธ็—‡"@ja . -:1200410 - :hasNotificationNumber "82" ; - terms:identifier "1200410" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:identifier "NANDO:1200410" ; + dcterms:source ; a owl:Class ; - rdfs:label "Allgrove Syndrome"@en, "Allgrove็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Allgrove syndrome"@en, "Allgrove็—‡ๅ€™็พค"@ja, "ใŠใƒผใ‚‹ใใ‚ใƒผใถใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Triple A syndrome"@en, "TripleA็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009279 ; + skos:closeMatch obo:MONDO_0009279 ; skos:prefLabel "Allgrove็—‡ๅ€™็พค"@ja . -:1200411 - :hasNotificationNumber "83" ; - terms:description "ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏใ€1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ‚ขใ‚ธใ‚ฝใƒณ๏ผˆAddison๏ผ‰็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œใ€่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200411" ; - terms:source ; - a owl:Class ; - rdfs:label "Addison's Disease"@en, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Addison disease"@en, "Primary chronic adrenocortical insufficiency"@en ; - skos:closeMatch mondo:MONDO_0009410, mondo:MONDO_0015129 ; + + nando:hasNotificationNumber "83" ; + dcterms:description "ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏใ€1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ‚ขใ‚ธใ‚ฝใƒณ๏ผˆAddison๏ผ‰็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œใ€่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200411" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Addison's disease"@en, "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Addison disease"@en, "Addison็—…"@ja, "Primary chronic adrenocortical insufficiency"@en ; + skos:closeMatch obo:MONDO_0009410, obo:MONDO_0015129 ; skos:prefLabel "ใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja . -:1200412 - :hasNotificationNumber "83" ; - terms:identifier "1200412" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:identifier "NANDO:1200412" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune Addison disease"@en, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Autoimmune Addison's disease"@en, "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†๏ผˆใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใตใใ˜ใ‚“ใˆใ‚“๏ผ‰"@ja-Hira, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "็‰น็™บๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja ; - skos:closeMatch mondo:MONDO_0009410 ; + skos:closeMatch obo:MONDO_0009410 ; skos:prefLabel "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅ‰ฏ่…Ž็‚Ž๏ผ‰"@ja . -:1200413 - :hasNotificationNumber "83" ; - terms:identifier "1200413" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:identifier "NANDO:1200413" ; + dcterms:source ; a owl:Class ; - rdfs:label "Tuberculous Addison's disease"@en, "็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Tuberculous Addison's disease"@en, "ใ‘ใฃใ‹ใใ›ใ„ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†"@ja-Hira, "็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็ตๆ ธๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja . -:1200414 - :hasNotificationNumber "83" ; - terms:identifier "1200414" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:identifier "NANDO:1200414" ; + dcterms:source ; a owl:Class ; - rdfs:label "Infectious Addison's diseas"@en, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Infectious Addison's disease"@en, "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†๏ผˆใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†๏ผ‰"@ja-Hira, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AD"@en ; skos:prefLabel "ใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผˆๆ„ŸๆŸ“็—‡๏ผ‰"@ja . -:1200415 - :hasNotificationNumber "84" ; - terms:description "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅŽŸๅ› ไธๆ˜Žใฎๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‹ฅๅนด่€…ใ‹ใ‚‰้ซ˜้ฝข่€…ใพใง็™บ็—‡ใ™ใ‚‹ใ€‚็™บ็—…ๆ™‚ใฎ่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ€ใใฎๅพŒใฎ่‡จๅบŠ็ตŒ้ŽใŒๅคšๆง˜ใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚่‚บ้–€็ธฆ้š”ใƒชใƒณใƒ‘็ฏ€ใ€่‚บใ€็œผใ€็šฎ่†šใฎ็ฝนๆ‚ฃ้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€็ฅž็ตŒใ€็ญ‹ใ€ๅฟƒ่‡“ใ€่…Ž่‡“ใ€้ชจใ€ๆถˆๅŒ–ๅ™จใชใฉๅ…จ่บซใฎใปใจใ‚“ใฉใฎ่‡“ๅ™จใง็ฝนๆ‚ฃใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏๆคœ่จบใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถใฎใ‚‚ใฎใŒๅคšใ่‡ช็„ถๆ”นๅ–„ไพ‹ใ‚‚ๅคšใ‹ใฃใŸใŒใ€่ฟ‘ๅนดใฏ่‡ช่ฆš็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ‚‚ใฎใŒๅข—ๅŠ ใ—ใฆ็ตŒ้Žใ‚‚้•ทๅผ•ใไพ‹ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ไนพ้…ชๅฃŠๆญปใ‚’ไผดใ‚ใชใ„้กžไธŠ็šฎ็ดฐ่ƒž่‚‰่Šฝ่…ซใฎ่จผๆ˜ŽใŒใ‚ใ‚Œใฐ็ต„็น”่จบๆ–ญ็พคใจใชใ‚‹ใŒใ€็ต„็น”็”Ÿๆคœใซใ‚ˆใ‚‹่จบๆ–ญใŒๅพ—ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใซใฏ่‡จๅบŠ่จบๆ–ญ็พคๅˆใฏ็–‘่จบ็พคใจใชใ‚‹ใ€‚่‚บใ€ๅฟƒ่‡“ใ€็œผใ€็ฅž็ตŒใ€่…Ž่‡“ใชใฉ็”Ÿๅ‘ฝไบˆๅพŒใƒปๆฉŸ่ƒฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใงใฏใ€ๅๅˆ†ใชๆฒป็™‚ใจ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200415" ; - terms:source ; + + nando:hasNotificationNumber "84" ; + dcterms:description "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅŽŸๅ› ไธๆ˜Žใฎๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‹ฅๅนด่€…ใ‹ใ‚‰้ซ˜้ฝข่€…ใพใง็™บ็—‡ใ™ใ‚‹ใ€‚็™บ็—…ๆ™‚ใฎ่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ€ใใฎๅพŒใฎ่‡จๅบŠ็ตŒ้ŽใŒๅคšๆง˜ใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚่‚บ้–€็ธฆ้š”ใƒชใƒณใƒ‘็ฏ€ใ€่‚บใ€็œผใ€็šฎ่†šใฎ็ฝนๆ‚ฃ้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€็ฅž็ตŒใ€็ญ‹ใ€ๅฟƒ่‡“ใ€่…Ž่‡“ใ€้ชจใ€ๆถˆๅŒ–ๅ™จใชใฉๅ…จ่บซใฎใปใจใ‚“ใฉใฎ่‡“ๅ™จใง็ฝนๆ‚ฃใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏๆคœ่จบใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถใฎใ‚‚ใฎใŒๅคšใ่‡ช็„ถๆ”นๅ–„ไพ‹ใ‚‚ๅคšใ‹ใฃใŸใŒใ€่ฟ‘ๅนดใฏ่‡ช่ฆš็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ‚‚ใฎใŒๅข—ๅŠ ใ—ใฆ็ตŒ้Žใ‚‚้•ทๅผ•ใไพ‹ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ไนพ้…ชๅฃŠๆญปใ‚’ไผดใ‚ใชใ„้กžไธŠ็šฎ็ดฐ่ƒž่‚‰่Šฝ่…ซใฎ่จผๆ˜ŽใŒใ‚ใ‚Œใฐ็ต„็น”่จบๆ–ญ็พคใจใชใ‚‹ใŒใ€็ต„็น”็”Ÿๆคœใซใ‚ˆใ‚‹่จบๆ–ญใŒๅพ—ใ‚‰ใ‚Œใชใ„ๅ ดๅˆใซใฏ่‡จๅบŠ่จบๆ–ญ็พคๅˆใฏ็–‘่จบ็พคใจใชใ‚‹ใ€‚่‚บใ€ๅฟƒ่‡“ใ€็œผใ€็ฅž็ตŒใ€่…Ž่‡“ใชใฉ็”Ÿๅ‘ฝไบˆๅพŒใƒปๆฉŸ่ƒฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใงใฏใ€ๅๅˆ†ใชๆฒป็™‚ใจ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200415" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sarcoidosis"@en, "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008399, mondo:MONDO_0019338 ; + rdfs:label "Sarcoidosis"@en, "ใ•ใ‚‹ใ“ใ„ใฉใƒผใ—ใ™"@ja-Hira, "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019338 ; skos:prefLabel "ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja . -:1200416 - :hasNotificationNumber "85" ; - terms:description "้–“่ณชๆ€ง่‚บ็‚Žใจใฏใ€่ƒธ้ƒจX็ทšๅ†™็œŸใ‚„CT็”ปๅƒใซใฆไธกๅดใณใพใ‚“ๆ€งใฎ้™ฐๅฝฑใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎใ†ใกใ€่‚บใฎ้–“่ณชใ‚’็‚Ž็—‡ใ‚„็ทš็ถญๅŒ–็—…ๅค‰ใฎๅ ดใจใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้–“่ณชๆ€ง่‚บ็‚ŽใฎๅŽŸๅ› ใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€่ทๆฅญใƒป็’ฐๅขƒๆ€งใ‚„่–ฌๅ‰คใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใชใ‚‚ใฎใ‚„ใ€่† ๅŽŸ็—…ใƒปใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎๅ…จ่บซๆ€ง็–พๆ‚ฃใซไป˜้šใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใจใ‚‚ใซใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆIIPs๏ผ‰ใฏๅŽŸๅ› ใ‚’็‰นๅฎšใ—ใˆใชใ„้–“่ณชๆ€ง่‚บ็‚Žใฎ็ท็งฐใงใ‚ใ‚Šใ€็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡๏ผˆIPF๏ผ‰ใชใฉใฎ๏ผ—็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200416" ; - terms:source ; - a owl:Class ; - rdfs:label "Idiopathic interstitial pneumonia"@en, "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002429 ; + + nando:hasNotificationNumber "85" ; + dcterms:description "้–“่ณชๆ€ง่‚บ็‚Žใจใฏใ€่ƒธ้ƒจX็ทšๅ†™็œŸใ‚„CT็”ปๅƒใซใฆไธกๅดใณใพใ‚“ๆ€งใฎ้™ฐๅฝฑใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎใ†ใกใ€่‚บใฎ้–“่ณชใ‚’็‚Ž็—‡ใ‚„็ทš็ถญๅŒ–็—…ๅค‰ใฎๅ ดใจใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้–“่ณชๆ€ง่‚บ็‚ŽใฎๅŽŸๅ› ใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€่ทๆฅญใƒป็’ฐๅขƒๆ€งใ‚„่–ฌๅ‰คใชใฉๅŽŸๅ› ใฎๆ˜Žใ‚‰ใ‹ใชใ‚‚ใฎใ‚„ใ€่† ๅŽŸ็—…ใƒปใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎๅ…จ่บซๆ€ง็–พๆ‚ฃใซไป˜้šใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใจใ‚‚ใซใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆIIPs๏ผ‰ใฏๅŽŸๅ› ใ‚’็‰นๅฎšใ—ใˆใชใ„้–“่ณชๆ€ง่‚บ็‚Žใฎ็ท็งฐใงใ‚ใ‚Šใ€็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡๏ผˆIPF๏ผ‰ใชใฉใฎ๏ผ—็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200416" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic interstitial pneumonia"@en, "ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "IIPs"@en ; + skos:closeMatch obo:MONDO_0002429 ; skos:prefLabel "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja . -:1200417 - :hasNotificationNumber "85" ; - terms:identifier "1200417" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200417" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic pulmonary fibrosis"@en, "็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "IPF"@ja ; - skos:closeMatch mondo:MONDO_0008345 ; + rdfs:label "Idiopathic pulmonary fibrosis"@en, "ใจใใฏใคใ›ใ„ใฏใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "IPF"@en, "IPF"@ja ; + skos:closeMatch obo:MONDO_0008345 ; skos:prefLabel "็‰น็™บๆ€ง่‚บ็ทš็ถญ็—‡"@ja . -:1200418 - :hasNotificationNumber "85" ; - terms:identifier "1200418" ; - terms:source ; - a owl:Class ; - rdfs:label "IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200419 - :hasNotificationNumber "85" ; - terms:identifier "1200419" ; - terms:source ; - a owl:Class ; - rdfs:label "NSIP"@ja, "nonspecific interstitial pneumonia"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž "@ja ; - skos:closeMatch mondo:MONDO_0019622 ; - skos:prefLabel "NSIP"@ja . - -:1200420 - :hasNotificationNumber "85" ; - terms:identifier "1200420" ; - terms:source ; - a owl:Class ; - rdfs:label "AIP"@ja, "acute interstitial pneumonia"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; - skos:closeMatch mondo:MONDO_0019203 ; - skos:prefLabel "AIP"@ja . - -:1200421 - :hasNotificationNumber "85" ; - terms:identifier "1200421" ; - terms:source ; - a owl:Class ; - rdfs:label "COP"@ja, "Cryptogenic organizing pneumonia"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž"@ja ; - skos:closeMatch mondo:MONDO_0015264 ; - skos:prefLabel "COP"@ja . - -:1200422 - :hasNotificationNumber "85" ; - terms:identifier "1200422" ; - terms:source ; - a owl:Class ; - rdfs:label "DIP"@ja, "desquamative interstitial pneumonia"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž "@ja ; - skos:closeMatch mondo:MONDO_0009887 ; - skos:prefLabel "DIP"@ja . - -:1200423 - :hasNotificationNumber "85" ; - terms:identifier "1200423" ; - terms:source ; - a owl:Class ; - rdfs:label "RB-ILD"@ja, "Respiratory bronchiolitis-associated interstitial lung disease"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; - skos:closeMatch mondo:MONDO_0009887 ; - skos:prefLabel "RB-ILD"@ja . - -:1200424 - :hasNotificationNumber "85" ; - terms:identifier "1200424" ; - terms:source ; - a owl:Class ; - rdfs:label "LIP"@ja, "Lymphoid interstitial pneumonia"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; - skos:closeMatch mondo:MONDO_0009537 ; - skos:prefLabel "LIP"@ja . - -:1200425 - :hasNotificationNumber "86" ; - terms:description "ๆ—งๆฅใฎๅ…ธๅž‹็š„ใช๏ผˆ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰IPAH๏ผ๏ผˆ้บไผๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰HPAHใฏใ€ๆฅตใ‚ใฆใพใ‚Œใชใ€็‰นใซๅŽŸๅ› ใจๆ€ใ‚ใ‚Œใ‚‹ๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„้ซ˜ๅบฆใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš1.7ใจๅฅณๆ€งใซๅคšใใ€็™บ็—‡ๅนด้ฝขใ‚‚่‹ฅๅนดใงใ€ๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ100ไธ‡ไบบใซ๏ผ‘๏ฝž๏ผ’ไบบใจ็จ€ใช็–พๆ‚ฃใงใ€ๆฒป็™‚ไป‹ๅ…ฅใ‚’่กŒใ‚ใชใ‹ใฃใŸๅ ดๅˆใ€่จบๆ–ญใ‹ใ‚‰ใฎๅนณๅ‡็”Ÿๅญ˜ๆœŸ้–“ใŒ2.8ๅนดใจ้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใฃใŸใ€‚ใ—ใ‹ใ—ใ€ๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏๅฐๅ…ๆœŸใซใ‚‚ๅฅฝ็™บๅนด้ฝขๅธฏใŒๅญ˜ๅœจใ—ใ€ใ“ใฎๆ™‚ๆœŸใฎ็™บ็—‡ไพ‹ใงใฏๆ€งๅทฎใฏใชใ„ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใใŸใ€‚ๆœฌ็—‡ใฏใ“ใ‚Œใพใงๆฒป็™‚ๆณ•ใŒ็š†็„กใงใ‚ใฃใŸใŒใ€1990ๅนดไปฅ้™ใซๆฌกใ€…ใจๆฒป็™‚่–ฌใŒ้–‹็™บใ•ใ‚Œใ€็พๆ™‚็‚นใงใฏไฝœ็”จๆฉŸๅบใฎ็•ฐใชใ‚‹๏ผ“็จฎ้กžใฎๆฒป็™‚่–ฌใŒๅญ˜ๅœจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅ˜ๅ‰คใพใŸใฏ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Š็”Ÿๅ‘ฝไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใŸใ€‚ใ—ใ‹ใ—ใ€่–ฌๅ‰คๆŠตๆŠ—ๆ€งใฎไพ‹ใงใฏใ€้ฉๅˆ‡ใชๆ™‚ๆœŸใซ่‚บ็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200425" ; - terms:source ; - a owl:Class ; - rdfs:label "Pulmonary arterial hypertension"@en, "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015924, mondo:MONDO_0024533 ; + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200418" ; + dcterms:source ; + a owl:Class ; + rdfs:label "IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž"@ja, "Interstitial pneumonia other than IPF"@en, "ใ‚ใ„ใดใƒผใˆใตใ„ใŒใ„ใฎใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "IPFไปฅๅค–ใฎ้–“่ณชๆ€ง่‚บ็‚Ž"@ja . + + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200419" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-specific interstitial pneumonia"@en, "ใฒใจใใ„ใฆใใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž "@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "NSIP"@en, "NSIP"@ja ; + skos:closeMatch obo:MONDO_0019622 ; + skos:prefLabel "้ž็‰น็•ฐ็š„้–“่ณชๆ€ง่‚บ็‚Ž "@ja . + + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200420" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute interstitial pneumonia"@en, "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AIP"@en, "AIP"@ja ; + skos:closeMatch obo:MONDO_0019203 ; + skos:prefLabel "ๆ€ฅๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja . + + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200421" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cryptogenic organizing pneumonia"@en, "ใจใใฏใคใ›ใ„ใใ—ใคใ‹ใฏใ„ใˆใ‚“"@ja-Hira, "็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "COP"@en, "COP"@ja ; + skos:closeMatch obo:MONDO_0015264 ; + skos:prefLabel "็‰น็™บๆ€งๅ™จ่ณชๅŒ–่‚บ็‚Ž"@ja . + + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200422" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Desquamative interstitial pneumonia"@en, "ใฏใใ‚ŠใŒใŸใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž "@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DIP"@en, "DIP"@ja ; + skos:closeMatch obo:MONDO_0009887 ; + skos:prefLabel "ๅ‰ฅ้›ขๅž‹้–“่ณชๆ€ง่‚บ็‚Ž "@ja . + + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200423" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Respiratory bronchiolitis-associated interstitial lung disease"@en, "ใ“ใใ‚…ใ†ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "RB-ILD"@ja, "RBILD"@en ; + skos:closeMatch obo:MONDO_0009887 ; + skos:prefLabel "ๅ‘ผๅธ็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž้–ข้€ฃ้–“่ณชๆ€ง่‚บ็‚Ž"@ja . + + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:1200424" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lymphoid interstitial pneumonia"@en, "ใ‚Šใ‚“ใฑใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "LIP"@ja ; + skos:closeMatch obo:MONDO_0009537 ; + skos:prefLabel "ใƒชใƒณใƒ‘็ƒๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja . + + + nando:hasNotificationNumber "86" ; + dcterms:description "ๆ—งๆฅใฎๅ…ธๅž‹็š„ใช๏ผˆ็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰IPAH๏ผ๏ผˆ้บไผๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผ‰HPAHใฏใ€ๆฅตใ‚ใฆใพใ‚Œใชใ€็‰นใซๅŽŸๅ› ใจๆ€ใ‚ใ‚Œใ‚‹ๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„้ซ˜ๅบฆใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ‘๏ผš1.7ใจๅฅณๆ€งใซๅคšใใ€็™บ็—‡ๅนด้ฝขใ‚‚่‹ฅๅนดใงใ€ๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ100ไธ‡ไบบใซ๏ผ‘๏ฝž๏ผ’ไบบใจ็จ€ใช็–พๆ‚ฃใงใ€ๆฒป็™‚ไป‹ๅ…ฅใ‚’่กŒใ‚ใชใ‹ใฃใŸๅ ดๅˆใ€่จบๆ–ญใ‹ใ‚‰ใฎๅนณๅ‡็”Ÿๅญ˜ๆœŸ้–“ใŒ2.8ๅนดใจ้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใฃใŸใ€‚ใ—ใ‹ใ—ใ€ๆœ€่ฟ‘ใฎๆคœ่จŽใงใฏๅฐๅ…ๆœŸใซใ‚‚ๅฅฝ็™บๅนด้ฝขๅธฏใŒๅญ˜ๅœจใ—ใ€ใ“ใฎๆ™‚ๆœŸใฎ็™บ็—‡ไพ‹ใงใฏๆ€งๅทฎใฏใชใ„ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใใŸใ€‚ๆœฌ็—‡ใฏใ“ใ‚Œใพใงๆฒป็™‚ๆณ•ใŒ็š†็„กใงใ‚ใฃใŸใŒใ€1990ๅนดไปฅ้™ใซๆฌกใ€…ใจๆฒป็™‚่–ฌใŒ้–‹็™บใ•ใ‚Œใ€็พๆ™‚็‚นใงใฏไฝœ็”จๆฉŸๅบใฎ็•ฐใชใ‚‹๏ผ“็จฎ้กžใฎๆฒป็™‚่–ฌใŒๅญ˜ๅœจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅ˜ๅ‰คใพใŸใฏ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Š็”Ÿๅ‘ฝไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใŸใ€‚ใ—ใ‹ใ—ใ€่–ฌๅ‰คๆŠตๆŠ—ๆ€งใฎไพ‹ใงใฏใ€้ฉๅˆ‡ใชๆ™‚ๆœŸใซ่‚บ็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200425" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pulmonary arterial hypertension"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PAH"@en ; + skos:closeMatch obo:MONDO_0015924 ; skos:prefLabel "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja . -:1200426 - :hasNotificationNumber "87" ; - terms:description "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผˆpulmonary veno-occlusive disease๏ผšPVOD๏ผ‰ใฏๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‚บๅ†…ใฎ้™่„ˆใŒไธปใช็—…ๅค‰้ƒจไฝใงใ‚ใ‚Šใ€่‚บ้™่„ˆใฎๅ†…่†œ่‚ฅๅŽšใ‚„็ทš็ถญๅŒ–็ญ‰ใซใ‚ˆใ‚‹้–‰ๅกžใ‚’่ชใ‚ใ‚‹ใ€‚่‚บๆฏ›็ดฐ็ฎก่…ซ็—‡๏ผˆpulmonary capillary hemangiomatosis๏ผšPCH๏ผ‰ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซ่‚บ่ƒžๅฃใฎๆฏ›็ดฐ็ฎกๅข—็”Ÿใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไธก็–พๆ‚ฃใจใ‚‚ใซ่‚บๅ†…ใฎ้™่„ˆ้–‰ๅกžใ‚’็”Ÿใ˜ใ€่‚บ้™่„ˆไธญๆžขๅดใงใ‚ใ‚‹่‚บๅ‹•่„ˆใฎ่ก€ๅœง๏ผˆ่‚บๅ‹•่„ˆๅœง๏ผ‰ใฎๆŒ็ถš็š„ใชไธŠๆ˜‡ใ‚’ๆฅใŸใ™ใ“ใจใซใชใ‚‹ใ€‚ใใฎใŸใ‚ใ€่‡จๅบŠ็š„ใซใฏไธก่€…ใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็—…ๆ…‹็š„ใซใฏไป–ใฎ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆpulmonary arterial hypertension๏ผšPAH๏ผ‰ใจ้กžไผผใ—ใฆใŠใ‚Šใ€ไธ€่ˆฌๅ†…็ง‘่จบ็™‚ใซใŠใ„ใฆ่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰ใ ใ‘ใงใฏPVOD/PCHใ‚’็–‘ใ†ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏ่ƒธ้ƒจCTๅƒใซใŠใ„ใฆใ€ใ™ใ‚Šใ‚ฌใƒฉใ‚น็Šถ้™ฐๅฝฑใ€ๅฐ่‘‰้–“้š”ๅฃใฎ่‚ฅๅŽšใชใฉใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใฏ็พๅœจใงใ‚‚่‚บ็ต„็น”ใ‹ใ‚‰ใฎ็—…็†็ต„็น”่จบๆ–ญใงใฎใฟๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๅคšใใ€ๆญฃ็ขบใช็™บ็—‡ๆ•ฐใฏๆŠŠๆกใ•ใ‚Œใฆใ„ใชใ„ใฎใŒ็พ็Šถใงใ‚ใ‚‹ใ€‚PVOD/PCHใฏใ‚ใ‚‰ใ‚†ใ‚‹ๅนดไปฃใซ็™บ็—‡ใ—ใ€ๅ–ซ็…™่€…ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบไพ‹ใงใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚15ๆญณๆœชๆบ€ใฎ็—‡ไพ‹ใงใฏ็”ทๅฅณๅทฎใฏ็„กใ„ใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200426" ; - terms:source ; - a owl:Class ; - rdfs:label "Pulmonary Veno-Occlusive Disease / Pulmonary Capillary Hemangiomatosis"@en, "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"@en ; - skos:closeMatch mondo:MONDO_0018554 ; + + nando:hasNotificationNumber "87" ; + dcterms:description "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผˆpulmonary veno-occlusive disease๏ผšPVOD๏ผ‰ใฏๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‚บๅ†…ใฎ้™่„ˆใŒไธปใช็—…ๅค‰้ƒจไฝใงใ‚ใ‚Šใ€่‚บ้™่„ˆใฎๅ†…่†œ่‚ฅๅŽšใ‚„็ทš็ถญๅŒ–็ญ‰ใซใ‚ˆใ‚‹้–‰ๅกžใ‚’่ชใ‚ใ‚‹ใ€‚่‚บๆฏ›็ดฐ็ฎก่…ซ็—‡๏ผˆpulmonary capillary hemangiomatosis๏ผšPCH๏ผ‰ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซ่‚บ่ƒžๅฃใฎๆฏ›็ดฐ็ฎกๅข—็”Ÿใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไธก็–พๆ‚ฃใจใ‚‚ใซ่‚บๅ†…ใฎ้™่„ˆ้–‰ๅกžใ‚’็”Ÿใ˜ใ€่‚บ้™่„ˆไธญๆžขๅดใงใ‚ใ‚‹่‚บๅ‹•่„ˆใฎ่ก€ๅœง๏ผˆ่‚บๅ‹•่„ˆๅœง๏ผ‰ใฎๆŒ็ถš็š„ใชไธŠๆ˜‡ใ‚’ๆฅใŸใ™ใ“ใจใซใชใ‚‹ใ€‚ใใฎใŸใ‚ใ€่‡จๅบŠ็š„ใซใฏไธก่€…ใฎ้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็—…ๆ…‹็š„ใซใฏไป–ใฎ่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆpulmonary arterial hypertension๏ผšPAH๏ผ‰ใจ้กžไผผใ—ใฆใŠใ‚Šใ€ไธ€่ˆฌๅ†…็ง‘่จบ็™‚ใซใŠใ„ใฆ่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰ใ ใ‘ใงใฏPVOD/PCHใ‚’็–‘ใ†ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏ่ƒธ้ƒจCTๅƒใซใŠใ„ใฆใ€ใ™ใ‚Šใ‚ฌใƒฉใ‚น็Šถ้™ฐๅฝฑใ€ๅฐ่‘‰้–“้š”ๅฃใฎ่‚ฅๅŽšใชใฉใŒ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใฏ็พๅœจใงใ‚‚่‚บ็ต„็น”ใ‹ใ‚‰ใฎ็—…็†็ต„็น”่จบๆ–ญใงใฎใฟๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๅคšใใ€ๆญฃ็ขบใช็™บ็—‡ๆ•ฐใฏๆŠŠๆกใ•ใ‚Œใฆใ„ใชใ„ใฎใŒ็พ็Šถใงใ‚ใ‚‹ใ€‚PVOD/PCHใฏใ‚ใ‚‰ใ‚†ใ‚‹ๅนดไปฃใซ็™บ็—‡ใ—ใ€ๅ–ซ็…™่€…ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบไพ‹ใงใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใ„ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚15ๆญณๆœชๆบ€ใฎ็—‡ไพ‹ใงใฏ็”ทๅฅณๅทฎใฏ็„กใ„ใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200426" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis"@en, "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใใใ—ใ‚‡ใ†๏ผใฏใ„ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PVOD / PCH"@en, "Pulmonary veno-occlusive disease / pulmonary capillary haemangiomatosis"@en, "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"@en ; + skos:closeMatch obo:MONDO_0018554 ; skos:prefLabel "่‚บ้™่„ˆ้–‰ๅกž็—‡๏ผ่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡"@ja . -:1200427 - :hasNotificationNumber "87" ; - terms:identifier "1200427" ; - terms:source ; + + nando:hasNotificationNumber "87" ; + dcterms:identifier "NANDO:1200427" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary Veno-Occlusive Disease"@en, "่‚บ้™่„ˆ้–‰ๅกž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009937 ; + rdfs:label "Pulmonary veno-occlusive disease"@en, "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใใใ—ใ‚‡ใ†"@ja-Hira, "่‚บ้™่„ˆ้–‰ๅกž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PVOD"@en ; + skos:closeMatch obo:MONDO_0009937 ; skos:prefLabel "่‚บ้™่„ˆ้–‰ๅกž็—‡"@ja . -:1200428 - :hasNotificationNumber "87" ; - terms:identifier "1200428" ; - terms:source ; + + nando:hasNotificationNumber "87" ; + dcterms:identifier "NANDO:1200428" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary Capillary Hemangiomatosis"@en, "่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009329 ; + rdfs:label "Pulmonary capillary hemangiomatosis"@en, "ใฏใ„ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PCH"@en, "Pulmonary capillary haemangiomatosis"@en ; + skos:closeMatch obo:MONDO_0018554 ; skos:prefLabel "่‚บๆฏ›็ดฐ่ก€็ฎก่…ซ็—‡"@ja . -:1200429 - :hasNotificationNumber "88" ; - terms:description "ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใจใฏใ€ๅ™จ่ณชๅŒ–ใ—ใŸ่ก€ๆ “ใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใŒ้–‰ๅกžใ—ใ€่‚บ่ก€ๆตๅˆ†ๅธƒๅŠใณ่‚บๅพช็’ฐๅ‹•ๆ…‹ใฎ็•ฐๅธธใŒ๏ผ–ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅ›บๅฎšใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใซใŠใ„ใฆใ€ๅนณๅ‡่‚บๅ‹•่„ˆๅœงใŒ25mmHgไปฅไธŠใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ไพ‹ใ‚’ใ€ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆchronic thromoboembolic pulmonary hypertension๏ผšCTEPH๏ผ‰ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ€ๆ—งๆฅๅŽš็”ŸๅŠดๅƒ็œใŒๆŒ‡ๅฎšใ™ใ‚‹ๆฒป็™‚็ตฆไป˜ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ็‰น็™บๆ€งๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡๏ผˆ่‚บ้ซ˜่ก€ๅœงๅž‹๏ผ‰ใจใ„ใ†ๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€2009ๅนด10ๆœˆใ€ใƒ€ใƒŠใƒใ‚คใƒณใƒˆๅˆ†้กžใซๅˆใ‚ใ›ใฆๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚Œใ€CTEPHใซ็ตฑไธ€ใ•ใ‚ŒใŸใ€‚"@ja ; - terms:identifier "1200429" ; - terms:source ; - a owl:Class ; - rdfs:label "Chronic thromboembolic pulmonary hypertension"@en, "ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013024 ; + + nando:hasNotificationNumber "88" ; + dcterms:description "ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใจใฏใ€ๅ™จ่ณชๅŒ–ใ—ใŸ่ก€ๆ “ใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใŒ้–‰ๅกžใ—ใ€่‚บ่ก€ๆตๅˆ†ๅธƒๅŠใณ่‚บๅพช็’ฐๅ‹•ๆ…‹ใฎ็•ฐๅธธใŒ๏ผ–ใ‹ๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅ›บๅฎšใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡ใซใŠใ„ใฆใ€ๅนณๅ‡่‚บๅ‹•่„ˆๅœงใŒ25mmHgไปฅไธŠใฎ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ไพ‹ใ‚’ใ€ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡๏ผˆchronic thromoboembolic pulmonary hypertension๏ผšCTEPH๏ผ‰ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ€ๆ—งๆฅๅŽš็”ŸๅŠดๅƒ็œใŒๆŒ‡ๅฎšใ™ใ‚‹ๆฒป็™‚็ตฆไป˜ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ็‰น็™บๆ€งๆ…ขๆ€ง่‚บ่ก€ๆ “ๅกžๆ “็—‡๏ผˆ่‚บ้ซ˜่ก€ๅœงๅž‹๏ผ‰ใจใ„ใ†ๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใŒใ€2009ๅนด10ๆœˆใ€ใƒ€ใƒŠใƒใ‚คใƒณใƒˆๅˆ†้กžใซๅˆใ‚ใ›ใฆๅ็งฐใŒๅค‰ๆ›ดใ•ใ‚Œใ€CTEPHใซ็ตฑไธ€ใ•ใ‚ŒใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200429" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic thromboembolic pulmonary hypertension"@en, "ใพใ‚“ใ›ใ„ใ‘ใฃใ›ใ‚“ใใใ›ใ‚“ใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CTEPH"@en ; + skos:closeMatch obo:MONDO_0013024 ; skos:prefLabel "ๆ…ขๆ€ง่ก€ๆ “ๅกžๆ “ๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja . -:1200430 - :hasNotificationNumber "89" ; - terms:description "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใฏใ€ๅนณๆป‘็ญ‹ๆง˜ใฎ่…ซ็˜็ดฐ่ƒž๏ผˆLAM็ดฐ่ƒž๏ผ‰ใŒๅข—ๆฎ–ใ—ใ€่‚บใซๅคš็™บๆ€งๅšข่ƒžใ‚’ๅฝขๆˆใ™ใ‚‹ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‹ใคๅ…จ่บซๆ€งใฎ่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆTSC๏ผ‰ใซไผดใฃใฆ็™บ็”Ÿใ™ใ‚‹TSC-LAMใจใ€ๅ˜็‹ฌใง็™บ็”Ÿใ™ใ‚‹ๅญค็™บๆ€งLAMใจใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธปใจใ—ใฆๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎๅฅณๆ€งใซ็™บ็—‡ใ—ใ€้€ฒ่กŒใซไผดใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ€ๅ’ณๅ—ฝใ€่ก€็—ฐใ€ไนณใณ่ƒธๆฐดใชใฉใฎ็—‡็Šถใ‚„ๆ‰€่ฆ‹ใŒๅ‡บ็พใ—ใ€่‡ช็„ถๆฐ—่ƒธใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…Ž่‡“ใชใฉใซ่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บ็—…ๅค‰ใŒ้€ฒ่กŒใ™ใ‚‹ใจๅ‘ผๅธๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้€ฒ่กŒใฎ้€Ÿใ•ใฏ็—‡ไพ‹ใ”ใจใซๅคšๆง˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200430" ; - terms:source ; - a owl:Class ; - rdfs:label "Lymphangioleiomyomatosis"@en, "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006277, mondo:MONDO_0011705 ; + + nando:hasNotificationNumber "89" ; + dcterms:description "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใฏใ€ๅนณๆป‘็ญ‹ๆง˜ใฎ่…ซ็˜็ดฐ่ƒž๏ผˆLAM็ดฐ่ƒž๏ผ‰ใŒๅข—ๆฎ–ใ—ใ€่‚บใซๅคš็™บๆ€งๅšข่ƒžใ‚’ๅฝขๆˆใ™ใ‚‹ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‹ใคๅ…จ่บซๆ€งใฎ่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆTSC๏ผ‰ใซไผดใฃใฆ็™บ็”Ÿใ™ใ‚‹TSC-LAMใจใ€ๅ˜็‹ฌใง็™บ็”Ÿใ™ใ‚‹ๅญค็™บๆ€งLAMใจใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธปใจใ—ใฆๅฆŠๅจ ๅฏ่ƒฝๅนด้ฝขใฎๅฅณๆ€งใซ็™บ็—‡ใ—ใ€้€ฒ่กŒใซไผดใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ€ๅ’ณๅ—ฝใ€่ก€็—ฐใ€ไนณใณ่ƒธๆฐดใชใฉใฎ็—‡็Šถใ‚„ๆ‰€่ฆ‹ใŒๅ‡บ็พใ—ใ€่‡ช็„ถๆฐ—่ƒธใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…Ž่‡“ใชใฉใซ่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บ็—…ๅค‰ใŒ้€ฒ่กŒใ™ใ‚‹ใจๅ‘ผๅธๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้€ฒ่กŒใฎ้€Ÿใ•ใฏ็—‡ไพ‹ใ”ใจใซๅคšๆง˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200430" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lymphangioleiomyomatosis"@en, "ใ‚Šใ‚“ใฑใฟใ‚ƒใใ‹ใ‚“ใใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "LAM"@en, "LAM"@ja ; + skos:closeMatch obo:MONDO_0011705 ; skos:prefLabel "ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡"@ja . -:1200431 - :hasNotificationNumber "90" ; - terms:description "้บไผๅญๅค‰็•ฐใŒๅŽŸๅ› ใง็ถฒ่†œใฎ่ฆ–็ดฐ่ƒžๅŠใณ่‰ฒ็ด ไธŠ็šฎ็ดฐ่ƒžใŒๅบƒ็ฏ„ใซๅค‰ๆ€งใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆๆœŸใซใฏใ€ๅคœ็›ฒใจ่ฆ–้‡Ž็‹ญ็ช„ใ‚’่‡ช่ฆšใ™ใ‚‹ใ€‚ๅพใ€…ใซ้€ฒ่กŒใ—ใ€่€ๅนดใซ่‡ณใฃใฆ็คพไผš็š„ๅคฑๆ˜Ž๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›็ด„0.1ไปฅไธ‹๏ผ‰ใจใชใ‚‹ไพ‹ใ‚‚ๅคšใ„ใŒใ€็”Ÿๆถฏ่‰ฏๅฅฝใช่ฆ–ๅŠ›ใ‚’ไฟใคไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้€ฒ่กŒใซๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚่ฆ–็ดฐ่ƒžใฎใ†ใกๆ†ไฝ“็ดฐ่ƒžใฎใฟใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใ€ๆ†ไฝ“็ดฐ่ƒžใจ้Œไฝ“็ดฐ่ƒžไธก่€…ใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใจ็งฐใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200431" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:description "้บไผๅญๅค‰็•ฐใŒๅŽŸๅ› ใง็ถฒ่†œใฎ่ฆ–็ดฐ่ƒžๅŠใณ่‰ฒ็ด ไธŠ็šฎ็ดฐ่ƒžใŒๅบƒ็ฏ„ใซๅค‰ๆ€งใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅˆๆœŸใซใฏใ€ๅคœ็›ฒใจ่ฆ–้‡Ž็‹ญ็ช„ใ‚’่‡ช่ฆšใ™ใ‚‹ใ€‚ๅพใ€…ใซ้€ฒ่กŒใ—ใ€่€ๅนดใซ่‡ณใฃใฆ็คพไผš็š„ๅคฑๆ˜Ž๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›็ด„0.1ไปฅไธ‹๏ผ‰ใจใชใ‚‹ไพ‹ใ‚‚ๅคšใ„ใŒใ€็”Ÿๆถฏ่‰ฏๅฅฝใช่ฆ–ๅŠ›ใ‚’ไฟใคไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้€ฒ่กŒใซๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚่ฆ–็ดฐ่ƒžใฎใ†ใกๆ†ไฝ“็ดฐ่ƒžใฎใฟใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใ€ๆ†ไฝ“็ดฐ่ƒžใจ้Œไฝ“็ดฐ่ƒžไธก่€…ใฎๅค‰ๆ€งใ‚’ๆ†ไฝ“้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใจ็งฐใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200431" ; + dcterms:source ; a owl:Class ; - rdfs:label "Retinitis pigmentosa"@en, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008377, mondo:MONDO_0011202, mondo:MONDO_0019200 ; + rdfs:label "Retinitis pigmentosa"@en, "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019200 ; skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡"@ja . -:1200432 - :hasNotificationNumber "90" ; - terms:identifier "1200432" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:identifier "NANDO:1200432" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sporadic retinitis pigmentosa"@en, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Sporadic retinitis pigmentosa"@en, "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ“ใฏใคใŒใŸ๏ผ‰"@ja-Hira, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅญค็™บๅž‹๏ผ‰"@ja . -:1200433 - :hasNotificationNumber "90" ; - terms:identifier "1200433" ; - terms:source ; - a owl:Class ; - rdfs:label "autosomal dominant retinitis pigmentosa"@en, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅญๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅญๅž‹๏ผ‰"@ja . - -:1200434 - :hasNotificationNumber "90" ; - terms:identifier "1200434" ; - terms:source ; - a owl:Class ; - rdfs:label "Autosomal Recessive Retinitis Pigmentosa"@en, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰"@ja . - -:1200435 - :hasNotificationNumber "90" ; - terms:identifier "1200435" ; - terms:source ; - a owl:Class ; - rdfs:label "X-linked recessive retinitis pigmentosa"@en, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅญๅž‹๏ผ‰"@ja . - -:1200436 - :hasNotificationNumber "90" ; - terms:identifier "1200436" ; - terms:source ; - a owl:Class ; - rdfs:label "Digenic retinitis pigmentosa"@en, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "90" ; + dcterms:identifier "NANDO:1200433" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autosomal dominant retinitis pigmentosa"@en, "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "90" ; + dcterms:identifier "NANDO:1200434" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autosomal recessive retinitis pigmentosa"@en, "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "90" ; + dcterms:identifier "NANDO:1200435" ; + dcterms:source ; + a owl:Class ; + rdfs:label "X-linked recessive retinitis pigmentosa"@en, "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใˆใฃใใ™ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "90" ; + dcterms:identifier "NANDO:1200436" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Digenic retinitis pigmentosa"@en, "ใ‚‚ใ†ใพใใ—ใใใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใซใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใŒใŸ๏ผ‰"@ja-Hira, "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡๏ผˆไบŒ้บไผๅญ็•ฐๅธธๅž‹๏ผ‰"@ja . -:1200437 - :hasNotificationNumber "91" ; - terms:description "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใฏใ€่‚้™่„ˆใฎไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚ๆœฌ้‚ฆใงใฏไธก่€…ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹็—…ๆ…‹ใŒๅคšใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ไธ‹่…ฟๆตฎ่…ซใ€ไธ‹่‚ข้™่„ˆ็˜คใ€่ƒธ่…นๅฃใฎไธŠ่กŒๆ€ง็šฎไธ‹้™่„ˆๆ€’ๅผตใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅคšใใฏ็™บ็—‡ๆ™‚ๆœŸใŒไธๆ˜Žใงๆ…ขๆ€งใฎ็ตŒ้Ž๏ผˆใ‚ขใ‚ธใ‚ขใซๅคšใ„๏ผ‰ใ‚’ใจใ‚Šใ€ใ†ใฃ่ก€ๆ€ง่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Šๆ€ฅๆ€ง็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆ๏ผˆๆฌง็ฑณใซๅคšใ„๏ผ‰ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ขใ‚ธใ‚ขใงใฏไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใŒๅคšใใ€ๆฌง็ฑณใงใฏ่‚้™่„ˆ้–‰ๅกžใŒๅคšใ„ใ€‚ๅˆ†้กžใจใ—ใฆใ€ๅŽŸ็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจ็ถš็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใŒใ‚ใ‚‹ใ€‚็—…็ŠถใŒ้€ฒ่กŒใ™ใ‚‹ใจ่‚็ดฐ่ƒž็™Œใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚้™่„ˆๆœซๆขขๆžใฎ้ž่ก€ๆ “ๆ€ง้–‰ๅกžใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹้™่„ˆ้–‰ๅกžๆ€ง็–พๆ‚ฃ๏ผˆvenoโ€occlusive disease๏ผ‰ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200437" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:description "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใฏใ€่‚้™่„ˆใฎไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚ๆœฌ้‚ฆใงใฏไธก่€…ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹็—…ๆ…‹ใŒๅคšใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ไธ‹่…ฟๆตฎ่…ซใ€ไธ‹่‚ข้™่„ˆ็˜คใ€่ƒธ่…นๅฃใฎไธŠ่กŒๆ€ง็šฎไธ‹้™่„ˆๆ€’ๅผตใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅคšใใฏ็™บ็—‡ๆ™‚ๆœŸใŒไธๆ˜Žใงๆ…ขๆ€งใฎ็ตŒ้Ž๏ผˆใ‚ขใ‚ธใ‚ขใซๅคšใ„๏ผ‰ใ‚’ใจใ‚Šใ€ใ†ใฃ่ก€ๆ€ง่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง้–‰ๅกžใ‚„็‹ญ็ช„ใซใ‚ˆใ‚Šๆ€ฅๆ€ง็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆ๏ผˆๆฌง็ฑณใซๅคšใ„๏ผ‰ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ขใ‚ธใ‚ขใงใฏไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใŒๅคšใใ€ๆฌง็ฑณใงใฏ่‚้™่„ˆ้–‰ๅกžใŒๅคšใ„ใ€‚ๅˆ†้กžใจใ—ใฆใ€ๅŽŸ็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจ็ถš็™บๆ€งใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พคใจใŒใ‚ใ‚‹ใ€‚็—…็ŠถใŒ้€ฒ่กŒใ™ใ‚‹ใจ่‚็ดฐ่ƒž็™Œใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚้™่„ˆๆœซๆขขๆžใฎ้ž่ก€ๆ “ๆ€ง้–‰ๅกžใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹้™่„ˆ้–‰ๅกžๆ€ง็–พๆ‚ฃ๏ผˆvenoโ€occlusive disease๏ผ‰ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200437" ; + dcterms:source ; a owl:Class ; - rdfs:label "Budd-Chiari syndrome"@en, "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006786, mondo:MONDO_0010947 ; + rdfs:label "Budd-Chiari syndrome"@en, "ใฐใฃใฉใƒปใใ‚ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010947 ; skos:prefLabel "ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช็—‡ๅ€™็พค"@ja . -:1200438 - :hasNotificationNumber "92" ; - terms:description "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใจใฏใ€่‚ๅ†…ๆœซๆขข้–€่„ˆๆžใฎ้–‰ๅกžใ€็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚้€šๅธธใ€่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใฏใชใใ€่‚็ดฐ่ƒž็™Œใฎๆฏๅœฐใซใฏใชใ‚‰ใชใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€้–€่„ˆ่ก€ๆ “ใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅŽš็”ŸๅŠดๅƒ็œ็‰นๅฎš็–พๆ‚ฃ้–€่„ˆ่ก€่กŒ็•ฐๅธธ็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใฎ็ตๆžœใงใฏใ€็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ“ใ€็™บ็—‡ใฎใƒ”ใƒผใ‚ฏใฏ50ๆญณไปฃใงใ€ๅนณๅ‡ๅนด้ฝขใฏ47.0ๆญณ๏ผˆ็”ทๆ€ง39.7ๆญณใ€ๅฅณๆ€ง50.4ๆญณ๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200438" ; - terms:source ; - a owl:Class ; - rdfs:label "Idiopathic portal hypertension"@en, "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Banti syndrome"@en ; - skos:closeMatch mondo:MONDO_0021969, mondo:MONDO_0037251 ; + + nando:hasNotificationNumber "92" ; + dcterms:description "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใจใฏใ€่‚ๅ†…ๆœซๆขข้–€่„ˆๆžใฎ้–‰ๅกžใ€็‹ญ็ช„ใซใ‚ˆใ‚Š้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ใ„ใ†ใ€‚้€šๅธธใ€่‚็กฌๅค‰ใซ่‡ณใ‚‹ใ“ใจใฏใชใใ€่‚็ดฐ่ƒž็™Œใฎๆฏๅœฐใซใฏใชใ‚‰ใชใ„ใ€‚้‡็—‡ๅบฆใซๅฟœใ˜ๆ˜“ๅ‡บ่ก€ๆ€ง้ฃŸ้“ใƒป่ƒƒ้™่„ˆ็˜คใ€็•ฐๆ‰€ๆ€ง้™่„ˆ็˜คใ€้–€่„ˆๅœงไบข้€ฒ็—‡ๆ€ง่ƒƒ่…ธ็—‡ใ€่…นๆฐดใ€่‚ๆ€ง่„ณ็—‡ใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่„พ่…ซใ€่ฒง่ก€ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€้–€่„ˆ่ก€ๆ “ใชใฉใฎ็—‡ๅ€™ใ‚’็คบใ™ใ€‚ๅŽš็”ŸๅŠดๅƒ็œ็‰นๅฎš็–พๆ‚ฃ้–€่„ˆ่ก€่กŒ็•ฐๅธธ็—‡่ชฟๆŸป็ ”็ฉถ็ญใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใฎ็ตๆžœใงใฏใ€็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ“ใ€็™บ็—‡ใฎใƒ”ใƒผใ‚ฏใฏ50ๆญณไปฃใงใ€ๅนณๅ‡ๅนด้ฝขใฏ47.0ๆญณ๏ผˆ็”ทๆ€ง39.7ๆญณใ€ๅฅณๆ€ง50.4ๆญณ๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200438" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic portal hypertension"@en, "ใจใใฏใคใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‚ใคใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Banti syndrome"@en, "Banti็—‡ๅ€™็พค"@ja, "IPH"@en, "ใƒใƒณใƒ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0021969 ; skos:prefLabel "็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡"@ja . -:1200439 - :hasNotificationNumber "93" ; - terms:description "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary biliary cholangitis๏ผšPBCใ€‚ๆ—ง็งฐ๏ผšๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰๏ผ‰ใฏ็—…ๅ› ใŒๆœชใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†ๆฑใ†ใฃๆปžใซไผดใ„่‚ๅฎŸ่ณช็ดฐ่ƒžใฎ็ ดๅฃŠใจ็ทš็ถญๅŒ–ใ‚’็”Ÿใ˜ใ€ๆœ€็ต‚็š„ใซใฏ่‚็กฌๅค‰ใ‹ใ‚‰่‚ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่ƒ†ๆฑใ†ใฃๆปžใซไผดใ†ใใ†็—’ๆ„Ÿใ€ๅŠใณ่‡ชๅทฑๆŠ—ไฝ“ใฎ๏ผ‘ใคใงใ‚ใ‚‹ๆŠ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆŠ—ไฝ“๏ผˆAnti-mitochondrial antibodies๏ผšAMA๏ผ‰ใฎ้™ฝๆ€งๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ไธญๅนดไปฅๅพŒใฎๅฅณๆ€งใซๅคšใ„ใ€‚่‡จๅบŠ็—‡็Šถใ‚‚ๅ…จใใฟใ‚‰ใ‚Œใชใ„็„ก็—‡ๅ€™ๆ€งPBCใฎ็—‡ไพ‹ใ‚‚ๅคšใใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏ้•ทๅนด็„ก็—‡็Šถใง็ตŒ้Žใ—ไบˆๅพŒใ‚‚ใ‚ˆใ„ใ€‚ใชใŠใ€ๆœฌ็–พๆ‚ฃใฏไปฅๅ‰ใ€ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ๆœฌ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸๅฝ“ๆ™‚ใฏใ€ๅคงๅคšๆ•ฐใฎ็—‡ไพ‹ใŒ่‚็กฌๅค‰ใพใง้€ฒ่กŒใ—ใŸๆฎต้šŽใง็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใŸใŸใ‚ใ€Œ่‚็กฌๅค‰ใ€ใจใ„ใ†่ชžๅฅใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€่จบๆ–ญใƒปๆฒป็™‚ๆŠ€่ก“ใฎ้€ฒๆญฉใ—ใŸ็พๅœจใงใฏใ€ใปใจใ‚“ใฉใฎๆ‚ฃ่€…ใŒ่‚็กฌๅค‰ใฎ็Šถๆ…‹ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€2016ๅนดใซๆ—ฅๆœฌ่‚่‡“ๅญฆไผšๅŠใณๆ—ฅๆœฌๆถˆๅŒ–ๅ™จ็—…ๅญฆไผšใซใŠใ„ใฆใ€ŒๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Žใ€ใธใฎ็—…ๅๅค‰ๆ›ดใŒๆฑบๅฎšใ•ใ‚ŒใŸใ€‚"@ja ; - terms:identifier "1200439" ; - terms:source ; - a owl:Class ; - rdfs:label "Primary Biliary Cholangitis"@en, "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Primary biliary cirrhosis"@en ; - skos:closeMatch mondo:MONDO_0005388 ; + + nando:hasNotificationNumber "93" ; + dcterms:description "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary biliary cholangitis๏ผšPBCใ€‚ๆ—ง็งฐ๏ผšๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰๏ผ‰ใฏ็—…ๅ› ใŒๆœชใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†ๆฑใ†ใฃๆปžใซไผดใ„่‚ๅฎŸ่ณช็ดฐ่ƒžใฎ็ ดๅฃŠใจ็ทš็ถญๅŒ–ใ‚’็”Ÿใ˜ใ€ๆœ€็ต‚็š„ใซใฏ่‚็กฌๅค‰ใ‹ใ‚‰่‚ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่ƒ†ๆฑใ†ใฃๆปžใซไผดใ†ใใ†็—’ๆ„Ÿใ€ๅŠใณ่‡ชๅทฑๆŠ—ไฝ“ใฎ๏ผ‘ใคใงใ‚ใ‚‹ๆŠ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๆŠ—ไฝ“๏ผˆAnti-mitochondrial antibodies๏ผšAMA๏ผ‰ใฎ้™ฝๆ€งๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ไธญๅนดไปฅๅพŒใฎๅฅณๆ€งใซๅคšใ„ใ€‚่‡จๅบŠ็—‡็Šถใ‚‚ๅ…จใใฟใ‚‰ใ‚Œใชใ„็„ก็—‡ๅ€™ๆ€งPBCใฎ็—‡ไพ‹ใ‚‚ๅคšใใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏ้•ทๅนด็„ก็—‡็Šถใง็ตŒ้Žใ—ไบˆๅพŒใ‚‚ใ‚ˆใ„ใ€‚ใชใŠใ€ๆœฌ็–พๆ‚ฃใฏไปฅๅ‰ใ€ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่‚็กฌๅค‰๏ผˆprimary biliary cirrhosis๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚ๆœฌ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸๅฝ“ๆ™‚ใฏใ€ๅคงๅคšๆ•ฐใฎ็—‡ไพ‹ใŒ่‚็กฌๅค‰ใพใง้€ฒ่กŒใ—ใŸๆฎต้šŽใง็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใŸใŸใ‚ใ€Œ่‚็กฌๅค‰ใ€ใจใ„ใ†่ชžๅฅใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€่จบๆ–ญใƒปๆฒป็™‚ๆŠ€่ก“ใฎ้€ฒๆญฉใ—ใŸ็พๅœจใงใฏใ€ใปใจใ‚“ใฉใฎๆ‚ฃ่€…ใŒ่‚็กฌๅค‰ใฎ็Šถๆ…‹ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€2016ๅนดใซๆ—ฅๆœฌ่‚่‡“ๅญฆไผšๅŠใณๆ—ฅๆœฌๆถˆๅŒ–ๅ™จ็—…ๅญฆไผšใซใŠใ„ใฆใ€ŒๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Žใ€ใธใฎ็—…ๅๅค‰ๆ›ดใŒๆฑบๅฎšใ•ใ‚ŒใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200439" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary biliary cholangitis"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“"@ja-Hira, "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PBC"@en, "Primary biliary cirrhosis"@en ; + skos:closeMatch obo:MONDO_0005388 ; skos:prefLabel "ๅŽŸ็™บๆ€ง่ƒ†ๆฑๆ€ง่ƒ†็ฎก็‚Ž"@ja . -:1200440 - :hasNotificationNumber "94" ; - terms:description "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPSC๏ผ‰ใฏใ€่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใฎ็ทš็ถญๆ€ง็‹ญ็ช„ใ‚’็”Ÿใ˜ใ‚‹้€ฒ่กŒๆ€งใฎๆ…ขๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†็ฎก็‚Žใ€AIDSใฎ่ƒ†็ฎก้šœๅฎณใ€่ƒ†็ฎกๆ‚ชๆ€ง่…ซ็˜๏ผˆPSC่จบๆ–ญๅพŒๅŠใณๆ—ฉๆœŸ็™Œใฏไพ‹ๅค–๏ผ‰ใ€่ƒ†้“ใฎๆ‰‹่ก“ใ‚„ๅค–ๅ‚ทใ€็ท่ƒ†็ฎก็ต็Ÿณใ€ๅ…ˆๅคฉๆ€ง่ƒ†้“็•ฐๅธธใ€่…้ฃŸๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ€่ƒ†็ฎกใฎ่™š่ก€ๆ€ง็‹ญ็ช„ใ€floxuridineๅ‹•ๆณจใซใ‚ˆใ‚‹่ƒ†็ฎก้šœๅฎณใ‚„็‹ญ็ช„ใซไผดใ†ใ‚‚ใฎใฏใ€๏ผ’ๆฌกๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใจใ—ใฆ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใซไผดใ†ใ‚‚ใฎใ‚’ๅซใ‚ใฆใ€IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ‚‚้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚2012ๅนดใฎๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใซใ‚ˆใ‚Œใฐใ€้ ปๅบฆใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ็—‡ๅนด้ฝขใฏ20ๆญณใจ60ๆญณไปฃใฎ๏ผ’ๅณฐๆ€งใงใ‚ใ‚‹ใ€‚่‚ๅ†…่‚ๅค–่ƒ†็ฎกไธกๆ–นใฎ็ฝนๆ‚ฃไพ‹ใŒๅคšใใ€ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฎๅˆไฝตใ‚’34๏ผ…ใซใ€่ƒ†็ฎก็™Œใฎๅˆไฝตใ‚’7.3๏ผ…ใซ่ชใ‚ใŸใ€‚"@ja ; - terms:identifier "1200440" ; - terms:source ; - a owl:Class ; - rdfs:label "Primary sclerosing cholangitis"@en, "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013433, mondo:MONDO_0018646 ; + + nando:hasNotificationNumber "94" ; + dcterms:description "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPSC๏ผ‰ใฏใ€่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใฎ็ทš็ถญๆ€ง็‹ญ็ช„ใ‚’็”Ÿใ˜ใ‚‹้€ฒ่กŒๆ€งใฎๆ…ขๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒ†็ฎก็‚Žใ€AIDSใฎ่ƒ†็ฎก้šœๅฎณใ€่ƒ†็ฎกๆ‚ชๆ€ง่…ซ็˜๏ผˆPSC่จบๆ–ญๅพŒๅŠใณๆ—ฉๆœŸ็™Œใฏไพ‹ๅค–๏ผ‰ใ€่ƒ†้“ใฎๆ‰‹่ก“ใ‚„ๅค–ๅ‚ทใ€็ท่ƒ†็ฎก็ต็Ÿณใ€ๅ…ˆๅคฉๆ€ง่ƒ†้“็•ฐๅธธใ€่…้ฃŸๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ€่ƒ†็ฎกใฎ่™š่ก€ๆ€ง็‹ญ็ช„ใ€floxuridineๅ‹•ๆณจใซใ‚ˆใ‚‹่ƒ†็ฎก้šœๅฎณใ‚„็‹ญ็ช„ใซไผดใ†ใ‚‚ใฎใฏใ€๏ผ’ๆฌกๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใจใ—ใฆ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใซไผดใ†ใ‚‚ใฎใ‚’ๅซใ‚ใฆใ€IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Žใ‚‚้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚2012ๅนดใฎๅ…จๅ›ฝใ‚ขใƒณใ‚ฑใƒผใƒˆ่ชฟๆŸปใซใ‚ˆใ‚Œใฐใ€้ ปๅบฆใฏ็”ทๆ€งใซใ‚„ใ‚„ๅคšใใ€็™บ็—‡ๅนด้ฝขใฏ20ๆญณใจ60ๆญณไปฃใฎ๏ผ’ๅณฐๆ€งใงใ‚ใ‚‹ใ€‚่‚ๅ†…่‚ๅค–่ƒ†็ฎกไธกๆ–นใฎ็ฝนๆ‚ฃไพ‹ใŒๅคšใใ€ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฎๅˆไฝตใ‚’34๏ผ…ใซใ€่ƒ†็ฎก็™Œใฎๅˆไฝตใ‚’7.3๏ผ…ใซ่ชใ‚ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200440" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary sclerosing cholangitis"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“"@ja-Hira, "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PSC"@en, "PSC"@ja ; + skos:closeMatch obo:MONDO_0013433, obo:MONDO_0018646 ; skos:prefLabel "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja . -:1200441 - :hasNotificationNumber "95" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใฏใ€่‚็ดฐ่ƒž้šœๅฎณใฎๆˆ็ซ‹ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹่‚็‚Žใงใ‚ใ‚Šใ€ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅŽŸๅ‰‡็š„ใซใฏๆ—ข็Ÿฅใฎ่‚็‚Žใ‚ฆใ‚คใƒซใ‚นใ€ใ‚ขใƒซใ‚ณใƒผใƒซใ€่–ฌ็‰ฉใซใ‚ˆใ‚‹่‚้šœๅฎณใ€ๅŠใณไป–ใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซๅŸบใฅใ่‚้šœๅฎณใฏ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€ๆฒป็™‚ใซ้š›ใ—ๅ…็–ซๆŠ‘ๅˆถๅ‰คใ€็‰นใซใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใ‚คใƒ‰ใŒ่‘—ๅŠนใ‚’ๅฅใ™ใ€‚ไธ€ๆ–นใ€ๆœ€่ฟ‘ใฎ่ชฟๆŸปใซใ‚ˆใ‚Šใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใฎๅญ˜ๅœจใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ60ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ€ๅณฐๆ€งใ‚’็คบใ—ใ€ๅคšใใฏไธญๅนดไปฅ้™ใฎ็™บ็—‡ใงใ‚ใ‚Šใ€ๆœ€่ฟ‘้ซ˜้ฝขๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ–ใงๅฅณๆ€งใซๅคšใ„ใ€‚"@ja ; - terms:identifier "1200441" ; - terms:source ; + + nando:hasNotificationNumber "95" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใฏใ€่‚็ดฐ่ƒž้šœๅฎณใฎๆˆ็ซ‹ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹่‚็‚Žใงใ‚ใ‚Šใ€ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅŽŸๅ‰‡็š„ใซใฏๆ—ข็Ÿฅใฎ่‚็‚Žใ‚ฆใ‚คใƒซใ‚นใ€ใ‚ขใƒซใ‚ณใƒผใƒซใ€่–ฌ็‰ฉใซใ‚ˆใ‚‹่‚้šœๅฎณใ€ๅŠใณไป–ใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซๅŸบใฅใ่‚้šœๅฎณใฏ้™คๅค–ใ•ใ‚Œใ‚‹ใ€‚ใพใŸใ€ๆฒป็™‚ใซ้š›ใ—ๅ…็–ซๆŠ‘ๅˆถๅ‰คใ€็‰นใซใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใ‚คใƒ‰ใŒ่‘—ๅŠนใ‚’ๅฅใ™ใ€‚ไธ€ๆ–นใ€ๆœ€่ฟ‘ใฎ่ชฟๆŸปใซใ‚ˆใ‚Šใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใฎๅญ˜ๅœจใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏ60ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไธ€ๅณฐๆ€งใ‚’็คบใ—ใ€ๅคšใใฏไธญๅนดไปฅ้™ใฎ็™บ็—‡ใงใ‚ใ‚Šใ€ๆœ€่ฟ‘้ซ˜้ฝขๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ็ด„๏ผ‘๏ผš๏ผ–ใงๅฅณๆ€งใซๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200441" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune hepatitis"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016264 ; + rdfs:label "Autoimmune hepatitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AIH"@en ; + skos:closeMatch obo:MONDO_0016264 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja . -:1200442 - :hasNotificationNumber "95" ; - terms:identifier "1200442" ; - terms:source ; - a owl:Class ; - rdfs:label "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200443 - :hasNotificationNumber "95" ; - terms:identifier "1200443" ; - terms:source ; - a owl:Class ; - rdfs:label "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200444 - :hasNotificationNumber "96" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๅŽŸๅ› ไธๆ˜Žใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ๆฝฐ็˜ใ‚„็ทš็ถญๅŒ–ใ‚’ไผดใ†่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‹ใ‚‰ใชใ‚Šใ€ๆถˆๅŒ–็ฎกใฎใฉใฎ้ƒจไฝใซใ‚‚่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกไปฅๅค–๏ผˆ็‰นใซ็šฎ่†š๏ผ‰ใซใ‚‚็—…ๅค‰ใŒ่ตทใ“ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅฝ“ๅˆใฎๅ ฑๅ‘Šใงใฏๅ›ž่…ธๆœซ็ซฏใ‚’ไพตใ™๏ผˆๅ›ž่…ธๆœซ็ซฏ็‚Ž๏ผ‰ใจ่จ˜่ผ‰ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎๆถˆๅŒ–็ฎกใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ่ตทใ“ใ‚Šใ†ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚่‡จๅบŠๅƒใฏ็—…ๅค‰ใฎ้ƒจไฝใ‚„็ฏ„ๅ›ฒใซใ‚ˆใฃใฆๅคšๅฝฉใงใ‚ใ‚‹ใ€‚็™บ็†ฑใ€ๆ „้คŠ้šœๅฎณใ€่ฒง่ก€ใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚„้–ข็ฏ€็‚Žใ€่™นๅฝฉ็‚Žใ€่‚้šœๅฎณใชใฉใฎๅ…จ่บซๆ€งๅˆไฝต็—‡ใŒ่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚"@ja ; - terms:identifier "1200444" ; - terms:source ; - a owl:Class ; - rdfs:label "Crohn's Disease"@en, "ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Crohn disease"@en ; - skos:closeMatch mondo:MONDO_0005011, mondo:MONDO_0009960 ; + + nando:hasNotificationNumber "95" ; + dcterms:identifier "NANDO:1200442" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Typical autoimmune hepatitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“๏ผˆใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016264 ; + skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆๅ…ธๅž‹ไพ‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "95" ; + dcterms:identifier "NANDO:1200443" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical autoimmune hepatitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“๏ผˆใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "96" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๅŽŸๅ› ไธๆ˜Žใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ๆฝฐ็˜ใ‚„็ทš็ถญๅŒ–ใ‚’ไผดใ†่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‹ใ‚‰ใชใ‚Šใ€ๆถˆๅŒ–็ฎกใฎใฉใฎ้ƒจไฝใซใ‚‚่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกไปฅๅค–๏ผˆ็‰นใซ็šฎ่†š๏ผ‰ใซใ‚‚็—…ๅค‰ใŒ่ตทใ“ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅฝ“ๅˆใฎๅ ฑๅ‘Šใงใฏๅ›ž่…ธๆœซ็ซฏใ‚’ไพตใ™๏ผˆๅ›ž่…ธๆœซ็ซฏ็‚Ž๏ผ‰ใจ่จ˜่ผ‰ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎๆถˆๅŒ–็ฎกใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ่ตทใ“ใ‚Šใ†ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚่‡จๅบŠๅƒใฏ็—…ๅค‰ใฎ้ƒจไฝใ‚„็ฏ„ๅ›ฒใซใ‚ˆใฃใฆๅคšๅฝฉใงใ‚ใ‚‹ใ€‚็™บ็†ฑใ€ๆ „้คŠ้šœๅฎณใ€่ฒง่ก€ใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚„้–ข็ฏ€็‚Žใ€่™นๅฝฉ็‚Žใ€่‚้šœๅฎณใชใฉใฎๅ…จ่บซๆ€งๅˆไฝต็—‡ใŒ่ตทใ“ใ‚Šใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200444" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crohn's disease"@en, "ใใ‚ใƒผใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Crohn Disease"@en, "Crohn็—…"@ja ; + skos:closeMatch obo:MONDO_0005011 ; skos:prefLabel "ใ‚ฏใƒญใƒผใƒณ็—…"@ja . -:1200445 - :hasNotificationNumber "96" ; - terms:identifier "1200445" ; - terms:source ; + + nando:hasNotificationNumber "96" ; + dcterms:identifier "NANDO:1200445" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ileal Crohn's disease"@en, "ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "small bowel Crohn disease"@en, "ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Small bowel Crohn's disease"@en, "ๅฐ่…ธๅž‹Crohn็—…"@ja ; + skos:closeMatch obo:MONDO_0005539 ; skos:prefLabel "ๅฐ่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja . -:1200446 - :hasNotificationNumber "96" ; - terms:identifier "1200446" ; - terms:source ; + + nando:hasNotificationNumber "96" ; + dcterms:identifier "NANDO:1200446" ; + dcterms:source ; a owl:Class ; - rdfs:label "Colonicย Crohnย Disease"@en, "ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Colonic Crohn's disease"@en, "ใ ใ„ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005011, obo:MONDO_0005532 ; skos:prefLabel "ๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja . -:1200447 - :hasNotificationNumber "96" ; - terms:identifier "1200447" ; - terms:source ; + + nando:hasNotificationNumber "96" ; + dcterms:identifier "NANDO:1200447" ; + dcterms:source ; a owl:Class ; - rdfs:label "Crohn ileocolitis"@en, "ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Crohn ileocolitis"@en, "ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ ใ„ใกใ‚‡ใ†ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Crohn's ileocolitis"@en ; + skos:closeMatch obo:MONDO_0005534 ; skos:prefLabel "ๅฐ่…ธๅคง่…ธๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja . -:1200448 - :hasNotificationNumber "96" ; - terms:identifier "1200448" ; - terms:source ; + + nando:hasNotificationNumber "96" ; + dcterms:identifier "NANDO:1200448" ; + dcterms:source ; a owl:Class ; - rdfs:label "atypical crohn's disease"@en, "็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Atypical Crohn's disease"@en, "ใจใใ—ใ‚…ใŒใŸใใ‚ใƒผใ‚“ใณใ‚‡ใ†"@ja-Hira, "็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็‰นๆฎŠๅž‹ใ‚ฏใƒญใƒผใƒณ็—…"@ja . -:1200449 - :hasNotificationNumber "97" ; - terms:description "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฏใ€ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅคง่…ธใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ€‚ๅŒป็ง‘ๅญฆๅ›ฝ้š›็ต„็น”ๅง”ๅ“ก๏ผˆCIOMS๏ผ‰ใงใฏใ€Œไธปใจใ—ใฆ็ฒ˜่†œใจ็ฒ˜่†œไธ‹ๅฑคใ‚’ไพตใ™ใ€ๅคง่…ธ็‰นใซ็›ด่…ธใฎ็‰น็™บๆ€งใ€้ž็‰น็•ฐ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€‚30ๆญณไปฅไธ‹ใฎๆˆไบบใซๅคšใ„ใŒใ€ๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๅนด้ฝขๅฑคใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€ๅ…็–ซ็—…็†ๅญฆ็š„ๆฉŸๅบใ‚„ๅฟƒ็†ๅญฆ็š„่ฆๅ› ใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้€šๅธธ่ก€ๆ€งไธ‹็—ขใจ็จฎใ€…ใฎ็จ‹ๅบฆใฎๅ…จ่บซ็—‡็Šถใ‚’็คบใ™ใ€‚้•ทๆœŸใซใ‚ใŸใ‚Šใ€ใ‹ใคๅคง่…ธๅ…จไฝ“ใ‚’ไพตใ™ๅ ดๅˆใซใฏๆ‚ชๆ€งๅŒ–ใฎๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใฏๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‹ใ‚‰้•ทๆœŸ้–“ใฎๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200449" ; - terms:source ; + + nando:hasNotificationNumber "97" ; + dcterms:description "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใฏใ€ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅคง่…ธใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ€‚ๅŒป็ง‘ๅญฆๅ›ฝ้š›็ต„็น”ๅง”ๅ“ก๏ผˆCIOMS๏ผ‰ใงใฏใ€Œไธปใจใ—ใฆ็ฒ˜่†œใจ็ฒ˜่†œไธ‹ๅฑคใ‚’ไพตใ™ใ€ๅคง่…ธ็‰นใซ็›ด่…ธใฎ็‰น็™บๆ€งใ€้ž็‰น็•ฐ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€‚30ๆญณไปฅไธ‹ใฎๆˆไบบใซๅคšใ„ใŒใ€ๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๅนด้ฝขๅฑคใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€ๅ…็–ซ็—…็†ๅญฆ็š„ๆฉŸๅบใ‚„ๅฟƒ็†ๅญฆ็š„่ฆๅ› ใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้€šๅธธ่ก€ๆ€งไธ‹็—ขใจ็จฎใ€…ใฎ็จ‹ๅบฆใฎๅ…จ่บซ็—‡็Šถใ‚’็คบใ™ใ€‚้•ทๆœŸใซใ‚ใŸใ‚Šใ€ใ‹ใคๅคง่…ธๅ…จไฝ“ใ‚’ไพตใ™ๅ ดๅˆใซใฏๆ‚ชๆ€งๅŒ–ใฎๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใฏๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใ‹ใ‚‰้•ทๆœŸ้–“ใฎๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200449" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ulcerative colitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005101, mondo:MONDO_0009960 ; + rdfs:label "Ulcerative colitis"@en, "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“"@ja-Hira, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005101 ; skos:prefLabel "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž"@ja . -:1200450 - :hasNotificationNumber "97" ; - terms:identifier "1200450" ; - terms:source ; + + nando:hasNotificationNumber "97" ; + dcterms:identifier "NANDO:1200450" ; + dcterms:source ; a owl:Class ; - rdfs:label "pan-ulcerative colitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005536 ; + rdfs:label "Pan-ulcerative colitis"@en, "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใœใ‚“ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005536 ; skos:prefLabel "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅ…จๅคง่…ธ็‚Žๅž‹๏ผ‰"@ja . -:1200451 - :hasNotificationNumber "97" ; - terms:identifier "1200451" ; - terms:source ; + + nando:hasNotificationNumber "97" ; + dcterms:identifier "NANDO:1200451" ; + dcterms:source ; a owl:Class ; - rdfs:label "left-sided colitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Left-sided colitis"@en, "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใฒใ ใ‚ŠใŒใ‚ใ ใ„ใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005533 ; skos:prefLabel "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅทฆๅดๅคง่…ธ็‚Žๅž‹๏ผ‰"@ja . -:1200452 - :hasNotificationNumber "97" ; - terms:identifier "1200452" ; - terms:source ; + + nando:hasNotificationNumber "97" ; + dcterms:identifier "NANDO:1200452" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ulcerative proctitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Ulcerative proctitis"@en, "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใกใ‚‡ใใกใ‚‡ใ†ใˆใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆ็›ด่…ธ็‚Žๅž‹๏ผ‰"@ja . -:1200453 - :hasNotificationNumber "97" ; - terms:identifier "1200453" ; - terms:source ; + + nando:hasNotificationNumber "97" ; + dcterms:identifier "NANDO:1200453" ; + dcterms:source ; a owl:Class ; - rdfs:label "Right-sidedย ulcerativeย colitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "segmental colitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅˆ†็ฏ€ๅž‹๏ผ‰"@ja ; + rdfs:label "Right-sided ulcerative colitis"@en, "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“๏ผˆใฟใŽใŒใ‚ใŒใŸ๏ผ‰"@ja-Hira, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Segmental colitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅˆ†็ฏ€ๅž‹๏ผ‰"@ja ; skos:prefLabel "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž๏ผˆๅณๅดๅž‹๏ผ‰"@ja . -:1200454 - :hasNotificationNumber "98" ; - terms:description "ๆถˆๅŒ–็ฎกใ‚’ไธปๅบงใจใ™ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡็—‡ๅ€™็พค๏ผˆEosinophilic Gastro-Intestinal Disorder๏ผšEGID๏ผ‰ใฏใ€ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž ๏ผˆใ“ใ“ใงใฏๆ—ฅๆœฌใซใŠใ‘ใ‚‹ Food-Protein Induced Enterocolitis Syndrome ใจใ„ใ†ๆ„ๅ‘ณใงN-FPIESใจๅ‘ผใถใ€‚๏ผ‰ใ€ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใ€ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸใฎๆ‚ฃ่€…ใฏใ€1990ๅนดๅฐๆœซใ‹ใ‚‰ๆ€ฅๆฟ€ใซๅข—ๅŠ ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€EGEใฏๆœฌ้‚ฆใซ็‰นใซๆ‚ฃ่€…ใŒๅคšใ„ใ€‚่จบๆ–ญๆณ•ใ€ๆฒป็™‚ๆณ•ใŒ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅคšใใฎๆ‚ฃ่€…ใŒ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž๏ผˆN-FPIES๏ผ‰ใงใฏ10๏ผ…ใฎๆ‚ฃ่€…ใฏใ€็”Ÿๅ‘ฝใซใ‹ใ‹ใ‚ใ‚‹้‡ๅคงใชๅˆไฝต็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใŸใ‚ใ€็ทŠๆ€ฅใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃ็—‡ไพ‹ใฎๅ ดๅˆใ€็—‡็Šถใฏไธ€็”Ÿ็ถšใใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใงใฏใ€ๅšฅไธ‹้šœๅฎณใฎใŸใ‚ใซๆ—ฅๅธธ็”ŸๆดปใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใจใจใ‚‚ใซใ€้•ทๆœŸ็ตŒ้Žไพ‹ใงใฏใ€้ฃŸ้“็‹ญ็ช„ใ‚’่ตทใ“ใ—่ฆณ่ก€็š„ใชๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏ่ƒƒ-ๅคง่…ธใซ่‡ณใ‚‹้‡่ฆใช่‡“ๅ™จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŒใ€ๆฌง็ฑณใงใฏ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญๆฒป็™‚็ ”็ฉถใŒ้€ฒใ‚“ใงใ„ใชใ„ใ€‚ๅคšใใฎๆ‚ฃ่€…ใ‚’ๆŠฑใˆใ‚‹ๆˆ‘ใŒๅ›ฝใง็ ”็ฉถใ‚’้€ฒๆญฉใ•ใ›ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚60๏ผ…็จ‹ๅบฆใฎไพ‹ใงๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งๅŒ–ใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ไพๅญ˜ๆ€งใจใชใ‚‹ใชใฉใ—ใฆ่–ฌๅ‰คๆฒป็™‚ใซใจใ‚‚ใชใ†ๆง˜ใ€…ใชๅ‰ฏไฝœ็”จใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ—ฅๆœฌใงใฏๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏใ€ไปฅๅ‰ใ‹ใ‚‰็—‡ไพ‹ๅ ฑๅ‘ŠใŒๅคšใ„ใŒใ€ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใฏๅฐ‘ใชใ„ใ€‚้€†ใซๆฌง็ฑณใงใฏๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใŒๅคšใใ€EGEใฏๅฐ‘ใชใ„ใ€‚ไธ–็•Œ็š„ใซEGE ใฎ่จบๆ–ญๆฒป็™‚ๆณ•ใซ้–ขใ™ใ‚‹็ ”็ฉถใฏ้…ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200454" ; + + nando:hasNotificationNumber "98" ; + dcterms:description "ๆถˆๅŒ–็ฎกใ‚’ไธปๅบงใจใ™ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡็—‡ๅ€™็พค๏ผˆEosinophilic Gastro-Intestinal Disorder๏ผšEGID๏ผ‰ใฏใ€ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž ๏ผˆใ“ใ“ใงใฏๆ—ฅๆœฌใซใŠใ‘ใ‚‹ Food-Protein Induced Enterocolitis Syndrome ใจใ„ใ†ๆ„ๅ‘ณใงN-FPIESใจๅ‘ผใถใ€‚๏ผ‰ใ€ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใ€ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸใฎๆ‚ฃ่€…ใฏใ€1990ๅนดๅฐๆœซใ‹ใ‚‰ๆ€ฅๆฟ€ใซๅข—ๅŠ ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€EGEใฏๆœฌ้‚ฆใซ็‰นใซๆ‚ฃ่€…ใŒๅคšใ„ใ€‚่จบๆ–ญๆณ•ใ€ๆฒป็™‚ๆณ•ใŒ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅคšใใฎๆ‚ฃ่€…ใŒ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚ ๆ–ฐ็”Ÿๅ…๏ฝžไนณๅ…ใซใŠใ‘ใ‚‹้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž๏ผˆN-FPIES๏ผ‰ใงใฏ10๏ผ…ใฎๆ‚ฃ่€…ใฏใ€็”Ÿๅ‘ฝใซใ‹ใ‹ใ‚ใ‚‹้‡ๅคงใชๅˆไฝต็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใŸใ‚ใ€็ทŠๆ€ฅใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃ็—‡ไพ‹ใฎๅ ดๅˆใ€็—‡็Šถใฏไธ€็”Ÿ็ถšใใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใงใฏใ€ๅšฅไธ‹้šœๅฎณใฎใŸใ‚ใซๆ—ฅๅธธ็”ŸๆดปใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใจใจใ‚‚ใซใ€้•ทๆœŸ็ตŒ้Žไพ‹ใงใฏใ€้ฃŸ้“็‹ญ็ช„ใ‚’่ตทใ“ใ—่ฆณ่ก€็š„ใชๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ ๅนผๅ…๏ฝžๆˆไบบใซใŠใ‘ใ‚‹ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏ่ƒƒ-ๅคง่…ธใซ่‡ณใ‚‹้‡่ฆใช่‡“ๅ™จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŒใ€ๆฌง็ฑณใงใฏ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญๆฒป็™‚็ ”็ฉถใŒ้€ฒใ‚“ใงใ„ใชใ„ใ€‚ๅคšใใฎๆ‚ฃ่€…ใ‚’ๆŠฑใˆใ‚‹ๆˆ‘ใŒๅ›ฝใง็ ”็ฉถใ‚’้€ฒๆญฉใ•ใ›ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚60๏ผ…็จ‹ๅบฆใฎไพ‹ใงๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ…ขๆ€งๅŒ–ใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ไพๅญ˜ๆ€งใจใชใ‚‹ใชใฉใ—ใฆ่–ฌๅ‰คๆฒป็™‚ใซใจใ‚‚ใชใ†ๆง˜ใ€…ใชๅ‰ฏไฝœ็”จใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ—ฅๆœฌใงใฏๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž๏ผˆEGE๏ผ‰ใฏใ€ไปฅๅ‰ใ‹ใ‚‰็—‡ไพ‹ๅ ฑๅ‘ŠใŒๅคšใ„ใŒใ€ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใฏๅฐ‘ใชใ„ใ€‚้€†ใซๆฌง็ฑณใงใฏๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEoE๏ผ‰ใŒๅคšใใ€EGEใฏๅฐ‘ใชใ„ใ€‚ไธ–็•Œ็š„ใซEGE ใฎ่จบๆ–ญๆฒป็™‚ๆณ•ใซ้–ขใ™ใ‚‹็ ”็ฉถใฏ้…ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200454" ; a owl:Class ; - rdfs:label "Eosinophilic Gastro-Intestinal Disorder"@en, "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Eosinophilic gastrointestinal disease"@en ; - skos:closeMatch mondo:MONDO_0018438 ; + rdfs:label "Eosinophilic gastrointestinal disorders"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "EGID"@en, "Eosinophilic gastrointestinal disease"@en ; + skos:closeMatch obo:MONDO_0018438 ; skos:prefLabel "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ"@ja . -:1200455 - :hasNotificationNumber "98" ; - terms:identifier "1200455" ; - terms:source ; + + nando:hasNotificationNumber "98" ; + dcterms:identifier "NANDO:1200455" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neonatal food-protein induced enterocolitis"@en, "ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Neonatal food-protein induced enterocolitis"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใซใ‚…ใ†ใ˜ใ—ใ‚‡ใใ‚‚ใคใŸใ‚“ใฑใใ‚†ใ†ใฏใคใ„ใกใ‚‡ใ†ใˆใ‚“"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "N-FPIES"@ja ; skos:prefLabel "ๆ–ฐ็”Ÿๅ…ไนณๅ…้ฃŸ็‰ฉ่›‹็™ฝ่ช˜็™บ่ƒƒ่…ธ็‚Ž"@ja . -:1200456 - :hasNotificationNumber "98" ; - terms:identifier "1200456" ; - terms:source ; + + nando:hasNotificationNumber "98" ; + dcterms:identifier "NANDO:1200456" ; + dcterms:source ; a owl:Class ; - rdfs:label "Eosinophilic esophagitis"@en, "ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "EoE"@ja ; - skos:closeMatch mondo:MONDO_0005361 ; + rdfs:label "Eosinophilic esophagitis"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใใฉใ†ใˆใ‚“"@ja-Hira, "ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EoE"@en, "EoE"@ja ; + skos:closeMatch obo:MONDO_0005361 ; skos:prefLabel "ๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž"@ja . -:1200457 - :hasNotificationNumber "98" ; - terms:identifier "1200457" ; - terms:source ; + + nando:hasNotificationNumber "98" ; + dcterms:identifier "NANDO:1200457" ; + dcterms:source ; a owl:Class ; - rdfs:label "Eosinophilic gastroenteritis"@en, "ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "EGE"@ja ; - skos:closeMatch mondo:MONDO_0016129 ; + rdfs:label "Eosinophilic gastroenteritis"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ„ใกใ‚‡ใ†ใˆใ‚“"@ja-Hira, "ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EGE"@en, "EGE"@ja ; + skos:closeMatch obo:MONDO_0016129 ; skos:prefLabel "ๅฅฝ้…ธ็ƒๆ€ง่ƒƒ่…ธ็‚Ž"@ja . -:1200458 - :hasNotificationNumber "99" ; - terms:description "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinal Pseudo-Obstruction๏ผšCIIP๏ผ‰ใฏใ€้•ทๆœŸใซ่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›็ญ‰ใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๆฅใ™ๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Intestinal Pseudo-Obstruction๏ผšCIPO๏ผ‰ใซใฏใ€ๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง๏ผˆPrimary๏ผ‰ใ€ๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง๏ผˆSecondary๏ผ‰ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใซใฏใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใ‚„CIIPใ‚’้™คใ„ใŸใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…้กž็ธ็–พๆ‚ฃ็ญ‰ใŒใ‚ใ‚Šใ€ๅฐๅ…ๆœŸใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏ้‘‘ๅˆฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๆˆไบบใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏใ€็ถš็™บๆ€งใฎๅฝๆ€ง่…ธ้–‰ๅกžใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200458" ; - terms:source ; - a owl:Class ; - rdfs:label "Chronic Idiopathic Intestinal Pseudo-Obstruction"@en, "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Chronic intestinal pseudo-obstruction"@en ; - skos:closeMatch mondo:MONDO_0017574 ; + + nando:hasNotificationNumber "99" ; + dcterms:description "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinal Pseudo-Obstruction๏ผšCIIP๏ผ‰ใฏใ€้•ทๆœŸใซ่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›็ญ‰ใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๆฅใ™ๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Intestinal Pseudo-Obstruction๏ผšCIPO๏ผ‰ใซใฏใ€ๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง๏ผˆPrimary๏ผ‰ใ€ๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง๏ผˆSecondary๏ผ‰ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใซใฏใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใ‚„CIIPใ‚’้™คใ„ใŸใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…้กž็ธ็–พๆ‚ฃ็ญ‰ใŒใ‚ใ‚Šใ€ๅฐๅ…ๆœŸใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏ้‘‘ๅˆฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๆˆไบบใฎCIIPใฎ่จบๆ–ญใซใŠใ„ใฆใฏใ€็ถš็™บๆ€งใฎๅฝๆ€ง่…ธ้–‰ๅกžใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200458" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic idiopathic intestinal pseudo-obstruction"@en, "ใพใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใŽใ›ใ„ใกใ‚‡ใ†ใธใ„ใใใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CIIP"@en ; + skos:closeMatch obo:MONDO_0017574 ; skos:prefLabel "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡"@ja . -:1200459 - :hasNotificationNumber "100" ; - terms:description "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พค๏ผˆๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡๏ผˆMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผšMMIHS๏ผ‰๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; - terms:identifier "1200459" ; - terms:source ; - a owl:Class ; - rdfs:label "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome"@en, "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Huge bladder short and small colon intestinal peristalsis deficiency"@en, "Megacystis microcolon intestinal hypoperistalsis syndrome"@en ; - skos:closeMatch mondo:MONDO_0007960 ; + + nando:hasNotificationNumber "100" ; + dcterms:description "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พค๏ผˆๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡๏ผˆMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผšMMIHS๏ผ‰๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200459" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Megacystis-microcolon-intestinal hypoperistalsis syndrome"@en, "ใใ‚‡ใ ใ„ใผใ†ใ“ใ†ใŸใ‚“ใ—ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ‚“ใœใ‚“ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Huge bladder short and small colon intestinal peristalsis deficiency"@en, "MMIHS"@en, "Megacystis microcolon intestinal hypoperistalsis syndrome"@en ; + skos:closeMatch obo:MONDO_0007960 ; skos:prefLabel "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡"@ja . -:1200460 - :hasNotificationNumber "101" ; - terms:description "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; - terms:identifier "1200460" ; - terms:source ; + + nando:hasNotificationNumber "101" ; + dcterms:description "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200460" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital isolated hypoganglionosis"@en, "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Congenital isolated hypoganglionosis"@en, "ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚“ใ‘ใ„ใ›ใคใ•ใ„ใผใ†ใใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Intestinal ganglion cells insignificant disease"@en ; + skos:closeMatch obo:MONDO_0008738 ; skos:prefLabel "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡"@ja . -:1200461 - :hasNotificationNumber "102" ; - terms:description "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใจใƒ†ใ‚คใƒ“ใŒใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค๏ผ—็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“๏ผˆRubinstein-Taybi๏ผ‰็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚"@ja ; - terms:identifier "1200461" ; - terms:source ; + + nando:hasNotificationNumber "102" ; + dcterms:description "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใจใƒ†ใ‚คใƒ“ใŒใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค๏ผ—็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“๏ผˆRubinstein-Taybi๏ผ‰็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚"@ja ; + dcterms:identifier "NANDO:1200461" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rubinstein-Taybi syndrome"@en, "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019188 ; + rdfs:label "Rubinstein-Taybi syndrome"@en, "ใ‚‹ใณใ‚“ใ—ใ‚…ใŸใ„ใ‚“ใƒปใฆใ„ใณใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Rubinstein-Taybi็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0019188 ; skos:prefLabel "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค"@ja . -:1200462 - :hasNotificationNumber "103" ; - terms:description "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "1200462" ; - terms:source ; - a owl:Class ; - rdfs:label "CFC Syndrome"@en, "CFC็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Cardio-facio-cutaneous syndrome"@en ; - skos:closeMatch mondo:MONDO_0007265, mondo:MONDO_0015280 ; + + nando:hasNotificationNumber "103" ; + dcterms:description "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:1200462" ; + dcterms:source ; + a owl:Class ; + rdfs:label "CFC Syndrome"@en, "CFC็—‡ๅ€™็พค"@ja, "ใ—ใƒผใˆใตใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Cardio-facio-cutaneous syndrome"@en, "cardio-facio-cutaneous็—‡ๅ€™็พค"@ja, "ๅฟƒ่‡“ใƒป้ก”ใƒป็šฎ่†š็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0015280 ; skos:prefLabel "CFC็—‡ๅ€™็พค"@ja . -:1200463 - :hasNotificationNumber "104" ; - terms:description "ๅ…ˆๅคฉ็š„ใชHRAS้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "1200463" ; - terms:source ; - a owl:Class ; - rdfs:label "Costello's Syndrome"@en, "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Costello syndrome"@en ; - skos:closeMatch mondo:MONDO_0009026 ; + + nando:hasNotificationNumber "104" ; + dcterms:description "ๅ…ˆๅคฉ็š„ใชHRAS้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:1200463" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Costello syndrome"@en, "ใ“ใ™ใฆใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Costello็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009026 ; skos:prefLabel "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค"@ja . -:1200464 - :hasNotificationNumber "105" ; - terms:description "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ… 20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅฟƒๅฅ‡ๅฝขใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”้…ๆปžใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200464" ; - terms:source ; + + nando:hasNotificationNumber "105" ; + dcterms:description "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅคš็™บๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ… 20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅฟƒๅฅ‡ๅฝขใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”้…ๆปžใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200464" ; + dcterms:source ; a owl:Class ; - rdfs:label "CHARGE syndrome"@en, "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008965 ; + rdfs:label "CHARGE syndrome"@en, "ใกใ‚ƒใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , , ; + rdfs:subClassOf ; + skos:altLabel "CHARGE็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008965 ; skos:prefLabel "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค"@ja . -:1200465 - :hasNotificationNumber "106" ; - terms:description "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ๏ผˆCryopyrin๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ๏ผˆinflammasome๏ผ‰ใ‚’ไป‹ใ—ใŸใƒ—ใƒญใ‚ซใ‚นใƒ‘ใƒผใ‚ผ-๏ผ‘๏ผˆprocaspase-1๏ผ‰ใฎๆดปๆ€งๅŒ–ใซใ‚ˆใ‚‹IL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปฝ็—‡ๅž‹ใฎๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พค๏ผˆFamilial cold autoinflammatorysyndrome๏ผšFCAS๏ผ‰ใ€ไธญ็ญ‰็—‡ใฎใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค๏ผˆMucke-Wells syndrome๏ผšMWS๏ผ‰ใ€้‡็—‡ๅž‹ใฎๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค๏ผˆChronic infantile neurologic cutaneous, and articular syndrome๏ผšCINCA็—‡ๅ€™็พค)๏ผๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ๏ผˆNeonatal onset multisystem inflammatory disease๏ผšNOMID๏ผ‰ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ๆ˜Ž็ขบใซ็—…ๅž‹ใ‚’ๅŒบๅˆฅใงใใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใซใŠใ‘ใ‚‹ๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ100ไบบ็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใŒๅคšใ„ใŒใ€ๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚็™บ็—‡ใซใŠใ‘ใ‚‹็”ทๅฅณๅทฎใฏใชใ„ใ€‚"@ja ; - terms:identifier "1200465" ; - terms:source ; + + nando:hasNotificationNumber "106" ; + dcterms:description "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ๏ผˆCryopyrin๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ๏ผˆinflammasome๏ผ‰ใ‚’ไป‹ใ—ใŸใƒ—ใƒญใ‚ซใ‚นใƒ‘ใƒผใ‚ผ-๏ผ‘๏ผˆprocaspase-1๏ผ‰ใฎๆดปๆ€งๅŒ–ใซใ‚ˆใ‚‹IL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปฝ็—‡ๅž‹ใฎๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พค๏ผˆFamilial cold autoinflammatorysyndrome๏ผšFCAS๏ผ‰ใ€ไธญ็ญ‰็—‡ใฎใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค๏ผˆMucke-Wells syndrome๏ผšMWS๏ผ‰ใ€้‡็—‡ๅž‹ใฎๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค๏ผˆChronic infantile neurologic cutaneous, and articular syndrome๏ผšCINCA็—‡ๅ€™็พค)๏ผๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ๏ผˆNeonatal onset multisystem inflammatory disease๏ผšNOMID๏ผ‰ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ๆ˜Ž็ขบใซ็—…ๅž‹ใ‚’ๅŒบๅˆฅใงใใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใซใŠใ‘ใ‚‹ๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ100ไบบ็จ‹ๅบฆใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใŒๅคšใ„ใŒใ€ๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚็™บ็—‡ใซใŠใ‘ใ‚‹็”ทๅฅณๅทฎใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200465" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cryopyrin-associated periodic syndrome"@en, "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Cryopyrin-associated periodic syndrome"@en, "ใใ‚ŠใŠใดใ‚Šใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใญใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Cryopyrin associated periodic fever syndrome"@en ; - skos:closeMatch mondo:MONDO_0016168 ; + skos:closeMatch obo:MONDO_0016168 ; skos:prefLabel "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค"@ja . -:1200466 - :hasNotificationNumber "106" ; - terms:identifier "1200466" ; - terms:source ; + + nando:hasNotificationNumber "106" ; + dcterms:identifier "NANDO:1200466" ; + dcterms:source ; a owl:Class ; - rdfs:label "Familial cold autoinflammatorysyndrome"@en, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "FCAS"@en, "FCAS"@ja ; - skos:closeMatch mondo:MONDO_0007349, mondo:MONDO_0018768 ; + rdfs:label "Familial cold autoinflammatorysyndrome"@en, "ใ‹ใžใใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใ˜ใ‚“ใพใ—ใ‚“"@ja-Hira, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCAS"@en, "FCAS"@ja, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018768 ; skos:prefLabel "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น"@ja . -:1200467 - :hasNotificationNumber "106" ; - terms:identifier "1200467" ; - terms:source ; - a owl:Class ; - rdfs:label "Muckle-Wells syndrome"@en, "Muckle-Wells็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "MWS"@en, "MWS"@ja ; - skos:closeMatch mondo:MONDO_0008633, mondo:MONDO_0009564 ; - skos:prefLabel "Muckle-Wells็—‡ๅ€™็พค"@ja . - -:1200468 - :hasNotificationNumber "106" ; - terms:identifier "1200468" ; - terms:source ; - a owl:Class ; - rdfs:label "CINCA็—‡ๅ€™็พค"@ja, "Chronic infantileย neurological cutaneous articular syndrome"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "CINCA syndrome"@en, "NOMID"@ja, "Neonatal Onset Multisystem Inflammatory Disease"@en ; - skos:closeMatch mondo:MONDO_0011776 ; - skos:prefLabel "CINCA็—‡ๅ€™็พค"@ja . - -:1200469 - :hasNotificationNumber "107" ; - terms:description "16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ€ๅŽŸๅ› ไธๆ˜Žใฎ๏ผ–้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๆ…ขๆ€งใฎ้–ข็ฏ€็‚Žใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซ็พ่ฑกใ‚’ๅŸบ็›คใจใ—ใ€้€ฒ่กŒๆ€งใƒป็ ดๅฃŠๆ€งใฎ้–ข็ฏ€็‚Žใ‚’่ชใ‚ใ€ใถใฉใ†่†œ็‚Ž๏ผˆ่™นๅฝฉ็‚Ž๏ผ‰ใ€็šฎ็–นใ€่‚่„พ่…ซใ€ๆผฟ่†œ็‚Žใ€็™บ็†ฑใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใชใฉใ•ใพใ–ใพใช้–ข็ฏ€ๅค–็—‡็Šถใ‚’ไผดใ†ใ€‚ๅ…จ่บซ็—‡็Šถใฎๅผทใ„ๅ…จ่บซๅž‹ใจใ€ๅ…จ่บซ็—‡็Šถใฎใชใ„้–ข็ฏ€ๅž‹ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200469" ; - a owl:Class ; - rdfs:label "Systemic-Onset Juvenile Idiopathic Arthritis"@en, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Juvenile idiopathic arthritis"@en ; - skos:closeMatch mondo:MONDO_0011429, mondo:MONDO_0019434 ; + + nando:hasNotificationNumber "106" ; + dcterms:identifier "NANDO:1200467" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Muckle-Wells syndrome"@en, "ใพใฃใใ‚‹ใƒปใ†ใ‡ใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MWS"@en, "MWS"@ja, "Muckle-Wells็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008633 ; + skos:prefLabel "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "106" ; + dcterms:identifier "NANDO:1200468" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic infantileย neurological cutaneous articular syndrome"@en, "ใพใ‚“ใ›ใ„ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใฒใตใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CINCA syndrome"@en, "CINCA็—‡ๅ€™็พค"@ja, "NOMID"@en, "NOMID"@ja, "Neonatal onset multisystem inflammatory disease"@en, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅคš่‡“ๅ™จ็ณป็‚Ž็—‡ๆ€ง็–พๆ‚ฃ"@ja ; + skos:closeMatch obo:MONDO_0011776 ; + skos:prefLabel "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "107" ; + dcterms:description "16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ€ๅŽŸๅ› ไธๆ˜Žใฎ๏ผ–้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๆ…ขๆ€งใฎ้–ข็ฏ€็‚Žใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซ็พ่ฑกใ‚’ๅŸบ็›คใจใ—ใ€้€ฒ่กŒๆ€งใƒป็ ดๅฃŠๆ€งใฎ้–ข็ฏ€็‚Žใ‚’่ชใ‚ใ€ใถใฉใ†่†œ็‚Ž๏ผˆ่™นๅฝฉ็‚Ž๏ผ‰ใ€็šฎ็–นใ€่‚่„พ่…ซใ€ๆผฟ่†œ็‚Žใ€็™บ็†ฑใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใชใฉใ•ใพใ–ใพใช้–ข็ฏ€ๅค–็—‡็Šถใ‚’ไผดใ†ใ€‚ๅ…จ่บซ็—‡็Šถใฎๅผทใ„ๅ…จ่บซๅž‹ใจใ€ๅ…จ่บซ็—‡็Šถใฎใชใ„้–ข็ฏ€ๅž‹ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200469" ; + a owl:Class ; + rdfs:label "Juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "JIA"@en ; + skos:closeMatch obo:MONDO_0011429 ; skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja . -:1200470 - :hasNotificationNumber "107" ; - terms:identifier "1200470" ; - terms:source ; + + nando:hasNotificationNumber "107" ; + dcterms:identifier "NANDO:1200470" ; + dcterms:source ; a owl:Class ; - rdfs:label "Systemic juvenile idiopathic arthritis"@en, "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019434 ; + rdfs:label "Systemic juvenile idiopathic arthritis"@en, "ใœใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“"@ja-Hira, "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "sJIA"@en ; + skos:closeMatch obo:MONDO_0019434 ; skos:prefLabel "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja . -:1200471 - :hasNotificationNumber "107" ; - terms:identifier "1200471" ; - terms:source ; + + nando:hasNotificationNumber "107" ; + dcterms:identifier "NANDO:1200471" ; + dcterms:source ; a owl:Class ; - rdfs:label "Articular-typeย juvenile idiopathicย arthritis"@en, "้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Articular-type juvenile idiopathic arthritis"@en, "ใ‹ใ‚“ใ›ใคใŒใŸใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“"@ja-Hira, "้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019433 ; skos:prefLabel "้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja . -:1200472 - :hasNotificationNumber "108" ; - terms:description "่ฟ‘ๅนดใ€ๅ›ฝๅ†…ๅค–ใงๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็™บ็†ฑใ€็šฎ็–นใ€็ญ‹่‚‰็—›ใ€้–ข็ฏ€็—›ใ€ๆผฟ่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ™‚ใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TNFๅ—ๅฎนไฝ“๏ผ‘ๅž‹๏ผˆTNF๏ผฒSF1A๏ผ‰ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใŒใ€่ฉณใ—ใ„็—…ๆ…‹ใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Žใ‚„ๆˆไบบใ‚นใƒใƒซ็—…ใจ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€้‘‘ๅˆฅใŒ้‡่ฆใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200472" ; - terms:source ; - a owl:Class ; - rdfs:label "TNF receptor-associated periodic syndrome"@en, "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007727 ; + + nando:hasNotificationNumber "108" ; + dcterms:description "่ฟ‘ๅนดใ€ๅ›ฝๅ†…ๅค–ใงๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็™บ็†ฑใ€็šฎ็–นใ€็ญ‹่‚‰็—›ใ€้–ข็ฏ€็—›ใ€ๆผฟ่†œ็‚Žใชใฉใ‚’็นฐใ‚Š่ฟ”ใ—ใ€ๆ™‚ใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚TNFๅ—ๅฎนไฝ“๏ผ‘ๅž‹๏ผˆTNF๏ผฒSF1A๏ผ‰ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใŒใ€่ฉณใ—ใ„็—…ๆ…‹ใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Žใ‚„ๆˆไบบใ‚นใƒใƒซ็—…ใจ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€้‘‘ๅˆฅใŒ้‡่ฆใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200472" ; + dcterms:source ; + a owl:Class ; + rdfs:label "TNF receptor-associated periodic fever syndrome"@en, "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja, "ใฆใƒใƒผใˆใฌใˆใตใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "TRAPS"@en ; + skos:closeMatch obo:MONDO_0007727 ; skos:prefLabel "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja . -:1200473 - :hasNotificationNumber "109" ; - terms:description "ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome๏ผšHUS๏ผ‰ใฏใ€ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆ€ฅๆ€ง่…Ž้šœๅฎณใ‚’๏ผ“ๅพดๅ€™ใจใ™ใ‚‹ใ€ๅฐๅ…ใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚HUSใฎ็ด„90๏ผ…ใฏไธ‹็—ขใ‚’ไผดใ„ใ€O157็ญ‰ใฎ็—…ๅŽŸๆ€งๅคง่…ธ่Œใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไธ€ๆ–นใงใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‰ใชใ„HUSใŒ็ด„10๏ผ…ๅญ˜ๅœจใ—ใ€ใใ‚Œใ‚‰ใฏ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆthrombotic microangiopathy๏ผšTMA๏ผ‰ใฎไธญใงใ‚‚ใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‹HUSใ€ADAMTS13ๆดปๆ€งไฝŽไธ‹๏ผˆ๏ผœ10๏ผ…๏ผ‰ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผš TTP๏ผ‰ใ€่–ฌๅ‰คใƒป็งปๆคใชใฉใซใ‚ˆใ‚‹ใƒ‹ๆฌกๆ€งTMAใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใจใ—ใฆใ€้žๅ…ธๅž‹๏ผˆatypical,a๏ผ‰HUSใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅŽŸๆ€งๅคง่…ธ่Œใซใ‚ˆใ‚‹HUSใฏๆฏ”่ผƒ็š„ไบˆๅพŒใŒ่‰ฏใ„ใฎใซๅฏพใ—ใ€aHUSใงใฏ่‡ดๆญป็Ž‡ใŒ็ด„25๏ผ…ใจไบˆๅพŒใŒ้žๅธธใซๆ‚ชใ„ใ€‚ๆตทๅค–ใงใฏใ€ๆฏŽๅนด100ไธ‡ไบบใ‚ใŸใ‚Šๆˆไบบใง๏ผ’ไบบ็™บ็—‡ใ€ๅฐๅ…ใงใฏ100ไธ‡ไบบใซ๏ผ—ไบบ็™บ็—‡ใจๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšๅˆๅŒๅง”ๅ“กไผšใซใ‚ˆใ‚‹2013ๅนดใฎaHUSใฎ่จบๆ–ญๅŸบๆบ–ใงใฏใ€aHUSใ‚’ใ€Œ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆTMA๏ผ‰ใ‹ใ‚‰ๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSๅŠใณADAMTS13ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPใ‚’้™คใ„ใŸใ‚‚ใฎใ€ใจใ—ใ€ใใฎไธญใฎไธ€้ƒจใซๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎใ€Œ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใ€ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšใซใ‚ˆใ‚‹ใ€Œ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆaHUS๏ผ‰่จบ็™‚ใ‚ฌใ‚คใƒ‰2015ใ€ใซใŠใ‘ใ‚‹่จบๆ–ญๅŸบๆบ–ใฎๆ”น่จ‚็‰ˆใงใฏใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใฎใฟใŒๆ–ฐใŸใซaHUS๏ผˆ่ฃœไฝ“้–ข้€ฃHUS๏ผ‰ใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚TMAใฎใ†ใกใ€STEC-HUSใ€TTPใ€ไบŒๆฌกๆ€งTMAใ‚’้‘‘ๅˆฅใ—ใˆใŸๆ‚ฃ่€…ใง่‡จๅบŠ็š„ใซaHUSใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„aHUSๆ‚ฃ่€…ใซใŠใ„ใฆใ€ใ•ใ‚‰ใซaHUSใฎ็‰น็•ฐ็š„ใชๆคœๆŸปใ‚’่กŒใ„ใ€ๆ—ข็Ÿฅ่ฃœไฝ“้–ข้€ฃใฎ็—…็š„้บไผๅญๅค‰็•ฐไพ‹ใ€ๆŠ—Hๅ› ๅญๆŠ—ไฝ“้™ฝๆ€งไพ‹ใŒaHUS็ขบๅฎš่จบๆ–ญไพ‹ใงใ‚ใ‚‹ใ€‚ๅŒป็™‚่ฒปๅŠฉๆˆใฎๅฏพ่ฑกใจใ™ในใ็–พ็—…ใฎ็ฏ„ๅ›ฒใฏใ€2015ๅนดใฎๅŸบๆบ–ใซใ‚ˆใ‚‹่‡จๅบŠ็š„aHUS่จบๆ–ญไพ‹ใ€ๅˆใฏaHUS็ขบๅฎš่จบๆ–ญไพ‹ใฎใฟใซๅฏพใ—ใฆใงใ‚ใ‚Šใ€ๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200473" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical hemolytic uremic syndrome"@en, "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016244 ; + + nando:hasNotificationNumber "109" ; + dcterms:description "ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome๏ผšHUS๏ผ‰ใฏใ€ๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆ€ฅๆ€ง่…Ž้šœๅฎณใ‚’๏ผ“ๅพดๅ€™ใจใ™ใ‚‹ใ€ๅฐๅ…ใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚HUSใฎ็ด„90๏ผ…ใฏไธ‹็—ขใ‚’ไผดใ„ใ€O157็ญ‰ใฎ็—…ๅŽŸๆ€งๅคง่…ธ่Œใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไธ€ๆ–นใงใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‰ใชใ„HUSใŒ็ด„10๏ผ…ๅญ˜ๅœจใ—ใ€ใใ‚Œใ‚‰ใฏ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆthrombotic microangiopathy๏ผšTMA๏ผ‰ใฎไธญใงใ‚‚ใ€็—…ๅŽŸๆ€งๅคง่…ธ่Œๆ„ŸๆŸ“ใซใ‚ˆใ‚‹HUSใ€ADAMTS13ๆดปๆ€งไฝŽไธ‹๏ผˆ๏ผœ10๏ผ…๏ผ‰ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura๏ผš TTP๏ผ‰ใ€่–ฌๅ‰คใƒป็งปๆคใชใฉใซใ‚ˆใ‚‹ใƒ‹ๆฌกๆ€งTMAใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใจใ—ใฆใ€้žๅ…ธๅž‹๏ผˆatypical,a๏ผ‰HUSใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅŽŸๆ€งๅคง่…ธ่Œใซใ‚ˆใ‚‹HUSใฏๆฏ”่ผƒ็š„ไบˆๅพŒใŒ่‰ฏใ„ใฎใซๅฏพใ—ใ€aHUSใงใฏ่‡ดๆญป็Ž‡ใŒ็ด„25๏ผ…ใจไบˆๅพŒใŒ้žๅธธใซๆ‚ชใ„ใ€‚ๆตทๅค–ใงใฏใ€ๆฏŽๅนด100ไธ‡ไบบใ‚ใŸใ‚Šๆˆไบบใง๏ผ’ไบบ็™บ็—‡ใ€ๅฐๅ…ใงใฏ100ไธ‡ไบบใซ๏ผ—ไบบ็™บ็—‡ใจๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšๅˆๅŒๅง”ๅ“กไผšใซใ‚ˆใ‚‹2013ๅนดใฎaHUSใฎ่จบๆ–ญๅŸบๆบ–ใงใฏใ€aHUSใ‚’ใ€Œ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก็—‡๏ผˆTMA๏ผ‰ใ‹ใ‚‰ๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSๅŠใณADAMTS13ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPใ‚’้™คใ„ใŸใ‚‚ใฎใ€ใจใ—ใ€ใใฎไธญใฎไธ€้ƒจใซๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎใ€Œ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใ€ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผš๏ผๆ—ฅๆœฌๅฐๅ…็ง‘ๅญฆไผšใซใ‚ˆใ‚‹ใ€Œ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆaHUS๏ผ‰่จบ็™‚ใ‚ฌใ‚คใƒ‰2015ใ€ใซใŠใ‘ใ‚‹่จบๆ–ญๅŸบๆบ–ใฎๆ”น่จ‚็‰ˆใงใฏใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใฎ่ฃœไฝ“ๅˆถๅพก็•ฐๅธธใซใ‚ˆใ‚‹aHUSใฎใฟใŒๆ–ฐใŸใซaHUS๏ผˆ่ฃœไฝ“้–ข้€ฃHUS๏ผ‰ใจๅฎš็พฉใ•ใ‚ŒใŸใ€‚TMAใฎใ†ใกใ€STEC-HUSใ€TTPใ€ไบŒๆฌกๆ€งTMAใ‚’้‘‘ๅˆฅใ—ใˆใŸๆ‚ฃ่€…ใง่‡จๅบŠ็š„ใซaHUSใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„aHUSๆ‚ฃ่€…ใซใŠใ„ใฆใ€ใ•ใ‚‰ใซaHUSใฎ็‰น็•ฐ็š„ใชๆคœๆŸปใ‚’่กŒใ„ใ€ๆ—ข็Ÿฅ่ฃœไฝ“้–ข้€ฃใฎ็—…็š„้บไผๅญๅค‰็•ฐไพ‹ใ€ๆŠ—Hๅ› ๅญๆŠ—ไฝ“้™ฝๆ€งไพ‹ใŒaHUS็ขบๅฎš่จบๆ–ญไพ‹ใงใ‚ใ‚‹ใ€‚ๅŒป็™‚่ฒปๅŠฉๆˆใฎๅฏพ่ฑกใจใ™ในใ็–พ็—…ใฎ็ฏ„ๅ›ฒใฏใ€2015ๅนดใฎๅŸบๆบ–ใซใ‚ˆใ‚‹่‡จๅบŠ็š„aHUS่จบๆ–ญไพ‹ใ€ๅˆใฏaHUS็ขบๅฎš่จบๆ–ญไพ‹ใฎใฟใซๅฏพใ—ใฆใงใ‚ใ‚Šใ€ๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200473" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical hemolytic uremic syndrome"@en, "ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Atypical haemolytic uraemic syndrome"@en, "aHUS"@en ; + skos:closeMatch obo:MONDO_0016244 ; skos:prefLabel "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja . -:1200474 - :hasNotificationNumber "109" ; - terms:identifier "1200474" ; - terms:source ; + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:1200474" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital atypical hemolytic uremicย syndrome"@en, "ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Congenital atypical hemolytic uremic syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital atypical haemolytic uremic syndrome"@en ; + skos:closeMatch obo:MONDO_0016244 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja . -:1200475 - :hasNotificationNumber "109" ; - terms:identifier "1200475" ; - terms:source ; + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:1200475" ; + dcterms:source ; a owl:Class ; - rdfs:label "acquired aHUS"@en, "ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "acquired atypical hemolytic uremicย syndrome"@en ; + rdfs:label "Acquired aHUS"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acquired atypical hemolytic uremic syndrome"@en ; skos:prefLabel "ๅพŒๅคฉๆ€ง้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja . -:1200476 - :hasNotificationNumber "110" ; - terms:description "ๆœฌ็—‡ใฏใ€NOD2้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใซใฆ็™บ็—‡ใ™ใ‚‹ๅ…จ่บซๆ€ง่‚‰่Šฝ่…ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏNOD2้บไผๅญใฎexon3๏ผˆNOD้ ˜ๅŸŸ๏ผ‰ใซๅค‰็•ฐใ‚’่ชใ‚ใ€in vitroใซใŠใ„ใฆNF-ฮบ Bใฎ่‡ช็™บ็š„ใช่ปขๅ†™ไบข้€ฒใ‚’ๅฐŽใๆฉŸ่ƒฝไบข้€ฒๅค‰็•ฐใงใ‚ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ‚‚ใฎใฎใ€ๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็šฎ่†š็—‡็Šถใƒป้–ข็ฏ€็—‡็Šถใƒป็œผ็—‡็Šถใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ใŒใ€ๅคšใใฎๅ ดๅˆ็—‡็Šถใฏใ“ใฎ้ †ใซๅ‡บ็พใ—ใ€๏ผ“ไธปๅพดๅ…จใฆใŒๅ‡บๆƒใ†ใซใฏๆ™‚้–“ใŒใ‹ใ‹ใ‚‹ใ€‚็ฝนๆ‚ฃ้ƒจไฝใฎ็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏ่‚‰่Šฝ่…ซ๏ผˆ้žไนพ้…ชๆ€งใ€้กžไธŠ็šฎ็ดฐ่ƒžๆ€ง๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200476" ; - terms:source ; - a owl:Class ; - rdfs:label "Blau syndrome"@en, "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008523 ; + + nando:hasNotificationNumber "110" ; + dcterms:description "ๆœฌ็—‡ใฏใ€NOD2้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใซใฆ็™บ็—‡ใ™ใ‚‹ๅ…จ่บซๆ€ง่‚‰่Šฝ่…ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏNOD2้บไผๅญใฎexon3๏ผˆNOD้ ˜ๅŸŸ๏ผ‰ใซๅค‰็•ฐใ‚’่ชใ‚ใ€in vitroใซใŠใ„ใฆNF-ฮบ Bใฎ่‡ช็™บ็š„ใช่ปขๅ†™ไบข้€ฒใ‚’ๅฐŽใๆฉŸ่ƒฝไบข้€ฒๅค‰็•ฐใงใ‚ใ‚‹ใ€‚ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ‚‚ใฎใฎใ€ๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็šฎ่†š็—‡็Šถใƒป้–ข็ฏ€็—‡็Šถใƒป็œผ็—‡็Šถใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ใŒใ€ๅคšใใฎๅ ดๅˆ็—‡็Šถใฏใ“ใฎ้ †ใซๅ‡บ็พใ—ใ€๏ผ“ไธปๅพดๅ…จใฆใŒๅ‡บๆƒใ†ใซใฏๆ™‚้–“ใŒใ‹ใ‹ใ‚‹ใ€‚็ฝนๆ‚ฃ้ƒจไฝใฎ็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏ่‚‰่Šฝ่…ซ๏ผˆ้žไนพ้…ชๆ€งใ€้กžไธŠ็šฎ็ดฐ่ƒžๆ€ง๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200476" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Blau syndrome"@en, "ใถใ‚‰ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Blau็—‡ๅ€™็พค"@ja, "Early onset sarcoidosis"@en, "่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + skos:closeMatch obo:MONDO_0008523 ; skos:prefLabel "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค"@ja . -:1200477 - :hasNotificationNumber "111" ; - terms:description "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฏใ€้ชจๆ ผ็ญ‹ใฎๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใชใ„ใ—ไนณๅ…ๆœŸใ‹ใ‚‰็ญ‹ๅŠ›ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’็คบใ—ใ€ใพใŸ็ญ‹็—‡็Šถไปฅๅค–ใซใ‚‚ๅ‘ผๅธ้šœๅฎณใ€ๅฟƒๅˆไฝต็—‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅดๅผฏใ€็™บ่‚ฒใƒป็™บ้”ใฎ้…ใ‚Œ็ญ‰ใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚็ตŒ้Žใฏ็ทฉๅพใชใŒใ‚‰้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ใฏใ€่ก€ๆธ…ใ‚ฏใƒฌใ‚ขใƒใƒณใ‚ญใƒŠใƒผใ‚ผๅ€คใฎๆญฃๅธธใ‹ใ‚‰่ปฝๅบฆไธŠๆ˜‡ใ‚’ใ€็ญ‹้›ปๅ›ณใงใฏๆญฃๅธธใชใ„ใ—็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ—ใ€้ชจๆ ผ็ญ‹็”ปๅƒใงใฏ่Ž็ธฎใ€่„‚่‚ชๅค‰ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ‚Œใ‚‰ๆ‰€่ฆ‹ใฎใฟใงใฏใ€ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅŠใณไปฃ่ฌๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธ€้ƒจใจใฎๅŒบๅˆฅใŒใคใ‹ใชใ„ใ€‚ใใฎใŸใ‚ใ€็ขบๅฎš่จบๆ–ญใซใฏ็ญ‹็”Ÿๆคœใซใ‚ˆใ‚‹็ญ‹็—…็†ๆคœๆŸปใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹็—…็†ๅƒใซๅŸบใฅใใ€็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธ็—…ใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใจใ„ใฃใŸ็—…ๅž‹ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ไธญใซใฏ็‰นๅพด็š„็—…็†ๆ‰€่ฆ‹ใ‚’็คบใ•ใšใ€้ž็‰น็•ฐ็š„็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ™ใฎใฟใงๅˆ†้กžไธ่ƒฝใช้ž็‰น็•ฐ็š„ใชๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ„็—…ๅž‹ใง่ค‡ๆ•ฐใฎ้บไผๅญใฎ้–ขไธŽใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€้‡็—‡ๅบฆใจ็—…็†ๅƒใ€้บไผๅญๅค‰็•ฐใจใซๅฟ…ใšใ—ใ‚‚็›ธ้–ขใŒใ‚ใ‚‹ใ‚ใ‘ใงใฏใชใ„ใ€‚"@ja ; - terms:identifier "1200477" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:description "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฏใ€้ชจๆ ผ็ญ‹ใฎๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใชใ„ใ—ไนณๅ…ๆœŸใ‹ใ‚‰็ญ‹ๅŠ›ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’็คบใ—ใ€ใพใŸ็ญ‹็—‡็Šถไปฅๅค–ใซใ‚‚ๅ‘ผๅธ้šœๅฎณใ€ๅฟƒๅˆไฝต็—‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅดๅผฏใ€็™บ่‚ฒใƒป็™บ้”ใฎ้…ใ‚Œ็ญ‰ใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚็ตŒ้Žใฏ็ทฉๅพใชใŒใ‚‰้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚ๆคœๆŸปๆ‰€่ฆ‹ใฏใ€่ก€ๆธ…ใ‚ฏใƒฌใ‚ขใƒใƒณใ‚ญใƒŠใƒผใ‚ผๅ€คใฎๆญฃๅธธใ‹ใ‚‰่ปฝๅบฆไธŠๆ˜‡ใ‚’ใ€็ญ‹้›ปๅ›ณใงใฏๆญฃๅธธใชใ„ใ—็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ—ใ€้ชจๆ ผ็ญ‹็”ปๅƒใงใฏ่Ž็ธฎใ€่„‚่‚ชๅค‰ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ‚Œใ‚‰ๆ‰€่ฆ‹ใฎใฟใงใฏใ€ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅŠใณไปฃ่ฌๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใฎไธ€้ƒจใจใฎๅŒบๅˆฅใŒใคใ‹ใชใ„ใ€‚ใใฎใŸใ‚ใ€็ขบๅฎš่จบๆ–ญใซใฏ็ญ‹็”Ÿๆคœใซใ‚ˆใ‚‹็ญ‹็—…็†ๆคœๆŸปใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹็—…็†ๅƒใซๅŸบใฅใใ€็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธ็—…ใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใจใ„ใฃใŸ็—…ๅž‹ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ไธญใซใฏ็‰นๅพด็š„็—…็†ๆ‰€่ฆ‹ใ‚’็คบใ•ใšใ€้ž็‰น็•ฐ็š„็ญ‹ๅŽŸๆ€งๅค‰ๅŒ–ใ‚’็คบใ™ใฎใฟใงๅˆ†้กžไธ่ƒฝใช้ž็‰น็•ฐ็š„ใชๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ„็—…ๅž‹ใง่ค‡ๆ•ฐใฎ้บไผๅญใฎ้–ขไธŽใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€้‡็—‡ๅบฆใจ็—…็†ๅƒใ€้บไผๅญๅค‰็•ฐใจใซๅฟ…ใšใ—ใ‚‚็›ธ้–ขใŒใ‚ใ‚‹ใ‚ใ‘ใงใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200477" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital myopathy"@en, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019952 ; + rdfs:label "Congenital myopathy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019952 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200478 - :hasNotificationNumber "111" ; - terms:identifier "1200478" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:identifier "NANDO:1200478" ; + dcterms:source ; a owl:Class ; - rdfs:label "Nemaline myopathy"@en, "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018958 ; + rdfs:label "Nemaline myopathy"@en, "ใญใพใ‚Šใ‚“ใฟใŠใฑใกใƒผ"@ja-Hira, "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018958 ; skos:prefLabel "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200479 - :hasNotificationNumber "111" ; - terms:identifier "1200479" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:identifier "NANDO:1200479" ; + dcterms:source ; a owl:Class ; - rdfs:label "Central core disease"@en, "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007294 ; + rdfs:label "Central core disease"@en, "ใ›ใ‚“ใจใ‚‰ใ‚‹ใ“ใ‚ใณใ‚‡ใ†"@ja-Hira, "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007294 ; skos:prefLabel "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…"@ja . -:1200480 - :hasNotificationNumber "111" ; - terms:identifier "1200480" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:identifier "NANDO:1200480" ; + dcterms:source ; a owl:Class ; - rdfs:label "Minicore myopathy"@en, "ใƒŸใƒ‹ใ‚ณใ‚ข็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009712 ; + rdfs:label "Minicore myopathy"@en, "ใฟใซใ“ใ‚ใณใ‚‡ใ†"@ja-Hira, "ใƒŸใƒ‹ใ‚ณใ‚ข็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Mini core disease"@en ; + skos:closeMatch obo:MONDO_0018948 ; skos:prefLabel "ใƒŸใƒ‹ใ‚ณใ‚ข็—…"@ja . -:1200481 - :hasNotificationNumber "111" ; - terms:identifier "1200481" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:identifier "NANDO:1200481" ; + dcterms:source ; a owl:Class ; - rdfs:label "Myotubular myopathy"@en, "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018947 ; + rdfs:label "Myotubular myopathy"@en, "ใฟใŠใกใ‚…ใถใ‚‰ใƒผใฟใŠใฑใกใƒผ"@ja-Hira, "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "X-linked centronuclear myopathy"@en ; + skos:closeMatch obo:MONDO_0018947 ; skos:prefLabel "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200482 - :hasNotificationNumber "111" ; - terms:identifier "1200482" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:identifier "NANDO:1200482" ; + dcterms:source ; a owl:Class ; - rdfs:label "Centronuclear myopathy"@en, "ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002921, mondo:MONDO_0018947 ; + rdfs:label "Centronuclear myopathy"@en, "ใกใ‚…ใ†ใ—ใ‚“ใ‹ใใฟใŠใฑใกใƒผ"@ja-Hira, "ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002921, obo:MONDO_0018947 ; skos:prefLabel "ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:1200483 - :hasNotificationNumber "111" ; - terms:identifier "1200483" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital fiber-type disproportion myopathy"@en, "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009711 ; - skos:prefLabel "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡"@ja . - -:1200484 - :hasNotificationNumber "111" ; - terms:identifier "1200484" ; - a owl:Class ; - rdfs:label "Type 1 Fiber Predominance Myopathy"@en, "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็นŠ็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็นŠ็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . - -:1200485 - :hasNotificationNumber "112" ; - terms:description "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€ๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ€ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็‰นๅพดใจใ™ใ‚‹ไนณๅนผๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200485" ; - terms:source ; - a owl:Class ; - rdfs:label "Marinesco-Sjogren syndrome"@en, "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009567 ; - skos:prefLabel "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja . - -:1200486 - :hasNotificationNumber "113" ; - terms:description "้ชจๆ ผ็ญ‹ใฎๅฃŠๆญปใƒปๅ†็”Ÿใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใงใ€50ไปฅไธŠใฎๅŽŸๅ› ้บไผๅญใŒ่งฃๆ˜Žใ•ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚้ชจๆ ผ็ญ‹้šœๅฎณใซไผดใ†้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใŒใ€้–ข็ฏ€ๆ‹˜็ธฎ๏ฝฅๅค‰ๅฝขใ€ๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใ€ๅฟƒ็ญ‹้šœๅฎณใ€ๅšฅไธ‹ๆฉŸ่ƒฝ้šœๅฎณใ€ๆถˆๅŒ–็ฎก็—‡็Šถใ€้ชจไปฃ่ฌ็•ฐๅธธใ€ๅ†…ๅˆ†ๆณŒไปฃ่ฌ็•ฐๅธธใ€็œผ็—‡็Šถใ€้›ฃ่ดใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ™ใชใ‚ใกใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€้ชจๆ ผ็ญ‹ไปฅๅค–ใซใ‚‚ๅคš่‡“ๅ™จใŒไพตใ•ใ‚Œใ€้›†ๅญฆ็š„ใช็ฎก็†ใ‚’่ฆใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็—…ๅž‹ใจใ—ใฆใฏใ€ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡๏ผˆใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹๏ผใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผ‰ใ€่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200486" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:identifier "NANDO:1200483" ; + dcterms:source ; a owl:Class ; - rdfs:label "Muscular dystrophy"@en, "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020121 ; - skos:prefLabel "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + rdfs:label "Congenital fiber-type disproportion myopathy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ›ใ‚“ใ„ใตใใ‚“ใจใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡"@ja ; + skos:closeMatch obo:MONDO_0009711 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡"@ja . -:1200487 - :hasNotificationNumber "113" ; - terms:identifier "1200487" ; - terms:source ; - a owl:Class ; - rdfs:label "Dystrophinopathies"@en, "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "111" ; + dcterms:identifier "NANDO:1200484" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 1 fiber predominance myopathy"@en, "ใœใ‚“ใŸใ„ใท1ใ›ใ‚“ใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . + + + nando:hasNotificationNumber "112" ; + dcterms:description "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พคใฏใ€ๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ€ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็‰นๅพดใจใ™ใ‚‹ไนณๅนผๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200485" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Marinesco-Sjogren syndrome"@en, "ใพใ‚Šใญใ™ใ“ใƒปใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MSS"@ja, "Marinesco-Sjogren็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009567 ; + skos:prefLabel "ใƒžใƒชใƒใ‚นใ‚ณใƒปใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "113" ; + dcterms:description "้ชจๆ ผ็ญ‹ใฎๅฃŠๆญปใƒปๅ†็”Ÿใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใงใ€50ไปฅไธŠใฎๅŽŸๅ› ้บไผๅญใŒ่งฃๆ˜Žใ•ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚้ชจๆ ผ็ญ‹้šœๅฎณใซไผดใ†้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใŒใ€้–ข็ฏ€ๆ‹˜็ธฎ๏ฝฅๅค‰ๅฝขใ€ๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใ€ๅฟƒ็ญ‹้šœๅฎณใ€ๅšฅไธ‹ๆฉŸ่ƒฝ้šœๅฎณใ€ๆถˆๅŒ–็ฎก็—‡็Šถใ€้ชจไปฃ่ฌ็•ฐๅธธใ€ๅ†…ๅˆ†ๆณŒไปฃ่ฌ็•ฐๅธธใ€็œผ็—‡็Šถใ€้›ฃ่ดใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ™ใชใ‚ใกใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€้ชจๆ ผ็ญ‹ไปฅๅค–ใซใ‚‚ๅคš่‡“ๅ™จใŒไพตใ•ใ‚Œใ€้›†ๅญฆ็š„ใช็ฎก็†ใ‚’่ฆใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็—…ๅž‹ใจใ—ใฆใฏใ€ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡๏ผˆใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹๏ผใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผ‰ใ€่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200486" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Muscular dystrophy"@en, "ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็ญ‹ใ‚ทใ‚™ใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020121 ; + skos:prefLabel "็ญ‹ใ‚ทใ‚™ใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200487" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dystrophinopathies"@en, "ใ˜ใ™ใจใ‚ใตใƒใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016147 ; skos:prefLabel "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ็•ฐๅธธ็—‡"@ja . -:1200488 - :hasNotificationNumber "113" ; - terms:identifier "1200488" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200488" ; + dcterms:source ; a owl:Class ; - rdfs:label "Duchenne muscular dystrophy"@en, "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010679 ; + rdfs:label "Duchenne muscular dystrophy"@en, "ใงใ‚…ใ—ใ‡ใ‚“ใฌใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Duchenneๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0010679 ; skos:prefLabel "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200489 - :hasNotificationNumber "113" ; - terms:identifier "1200489" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200489" ; + dcterms:source ; a owl:Class ; - rdfs:label "Becker muscular dystrophy"@en, "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010311 ; + rdfs:label "Becker muscular dystrophy"@en, "ในใฃใ‹ใƒผใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "BMD"@en ; + skos:closeMatch obo:MONDO_0010311 ; skos:prefLabel "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200490 - :hasNotificationNumber "113" ; - terms:identifier "1200490" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200490" ; + dcterms:source ; a owl:Class ; - rdfs:label "Limb-girdle muscular dystrophy"@en, "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016971 ; + rdfs:label "Limb-girdle muscular dystrophy"@en, "ใ—ใŸใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016971 ; skos:prefLabel "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200491 - :hasNotificationNumber "113" ; - terms:identifier "1200491" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200491" ; + dcterms:source ; a owl:Class ; - rdfs:label "Facioscapulohumeral muscular dystrophy"@en, "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001347, mondo:MONDO_0008030 ; + rdfs:label "Facioscapulohumeral muscular dystrophy"@en, "ใŒใ‚“ใ‚ใ‚“ใ‘ใ‚“ใ“ใ†ใ˜ใ‚‡ใ†ใ‚ใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "FSMD"@en ; + skos:closeMatch obo:MONDO_0001347 ; skos:prefLabel "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200492 - :hasNotificationNumber "113" ; - terms:identifier "1200492" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200492" ; + dcterms:source ; a owl:Class ; - rdfs:label "Emery-Dreifuss muscular dystrophy"@en, "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016830 ; + rdfs:label "Emery-Dreifuss muscular dystrophy"@en, "ใˆใ‚ใ‚Šใƒผใƒปใฉใ‚Œใ„ใตใ™ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Emery-Dreifussๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0016830 ; skos:prefLabel "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200493 - :hasNotificationNumber "113" ; - terms:identifier "1200493" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200493" ; + dcterms:source ; a owl:Class ; - rdfs:label "Oculopharyngeal muscular dystrophy"@en, "็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008116 ; + rdfs:label "Oculopharyngeal muscular dystrophy"@en, "ใŒใ‚“ใ„ใ‚“ใจใ†ใใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "OPMD"@en ; + skos:closeMatch obo:MONDO_0008116 ; skos:prefLabel "็œผๅ’ฝ้ ญ็ญ‹ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200494 - :hasNotificationNumber "113" ; - terms:identifier "1200494" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200494" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fukuyama type congenital muscular dystrophy"@en, "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009678 ; + rdfs:label "Fukuyama type congenital muscular dystrophy"@en, "ใตใใ‚„ใพใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "FCMD"@en ; + skos:closeMatch obo:MONDO_0009678 ; skos:prefLabel "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200495 - :hasNotificationNumber "113" ; - terms:identifier "1200495" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:1200495" ; + dcterms:source ; a owl:Class ; - rdfs:label "Myotonic dystrophy"@en, "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016107 ; + rdfs:label "Myotonic dystrophy"@en, "ใใ‚“ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0016107 ; skos:prefLabel "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200496 - :hasNotificationNumber "114" ; - terms:description "็ญ‹็ทš็ถญใฎ่ˆˆๅฅฎๆ€ง็•ฐๅธธใซใ‚ˆใ‚‹็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰็พ่ฑกใ‚’ไธปๅพดใจใ—ใ€็ญ‹ใฎๅค‰ๆ€ง๏ผˆใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅค‰ๅŒ–๏ผ‰ใ‚’ไผดใ‚ใชใ„้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใ‚„ๅŽŸๅ› ้บไผๅญใ‹ใ‚‰ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅŒๆง˜ใซ็ญ‹ๅผท็›ด็พ่ฑกใ‚’็คบใ™้–ข้€ฃ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พคใซใฏๅซใ‚ใชใ„ใ€‚"@ja ; - terms:identifier "1200496" ; - terms:source ; - a owl:Class ; - rdfs:label "Non-dystrophic Myotonia"@en, "้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Non-dystrophic myotonia syndrome"@en ; - skos:closeMatch mondo:MONDO_0016110 ; + + nando:hasNotificationNumber "114" ; + dcterms:description "็ญ‹็ทš็ถญใฎ่ˆˆๅฅฎๆ€ง็•ฐๅธธใซใ‚ˆใ‚‹็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰็พ่ฑกใ‚’ไธปๅพดใจใ—ใ€็ญ‹ใฎๅค‰ๆ€ง๏ผˆใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅค‰ๅŒ–๏ผ‰ใ‚’ไผดใ‚ใชใ„้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใ‚„ๅŽŸๅ› ้บไผๅญใ‹ใ‚‰ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ๅŒๆง˜ใซ็ญ‹ๅผท็›ด็พ่ฑกใ‚’็คบใ™้–ข้€ฃ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พคใซใฏๅซใ‚ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200496" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-dystrophic myotonia"@en, "ใฒใ˜ใ™ใจใ‚ใตใƒใƒผใ›ใ„ใฟใŠใจใซใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Non-dystrophic myotonic syndromes"@en ; + skos:closeMatch obo:MONDO_0016110 ; skos:prefLabel "้žใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ็—‡ๅ€™็พค"@ja . -:1200497 - :hasNotificationNumber "114" ; - terms:identifier "1200497" ; - terms:source ; + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:1200497" ; + dcterms:source ; a owl:Class ; - rdfs:label "Myotonia congenita"@en, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009710 ; + rdfs:label "Myotonia congenita"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใจใซใƒผ"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "MC"@en ; + skos:closeMatch obo:MONDO_0009710 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja . -:1200498 - :hasNotificationNumber "114" ; - terms:identifier "1200498" ; - terms:source ; - a owl:Class ; - rdfs:label "Thomsen disease"@en, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ใƒˆใƒ ใ‚ผใƒณ็—…"@ja ; - skos:closeMatch mondo:MONDO_0008055, mondo:MONDO_0009710 ; - skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰"@ja . - -:1200499 - :hasNotificationNumber "114" ; - terms:identifier "1200499" ; - terms:source ; - a owl:Class ; - rdfs:label "Becker disease"@en, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ใƒ™ใƒƒใ‚ซใƒผ็—…"@ja ; - skos:closeMatch mondo:MONDO_0009715 ; - skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰"@ja . - -:1200500 - :hasNotificationNumber "114" ; - terms:identifier "1200500" ; - terms:source ; - a owl:Class ; - rdfs:label "Sodium channel myotonia"@en, "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ(ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ)"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ(ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ)"@ja . - -:1200501 - :hasNotificationNumber "114" ; - terms:identifier "1200501" ; - terms:source ; - a owl:Class ; - rdfs:label "Paramyotonia congenita"@en, "ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja ; - skos:closeMatch mondo:MONDO_0008195 ; + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:1200498" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Thomsen disease"@en, "ใจใ‚€ใœใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒˆใƒ ใ‚ผใƒณ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Thomsen's disease"@en, "Thomsen็—…"@ja, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒˆใƒ ใ‚ผใƒณ็—…๏ผˆๅ„ชๆ€ง้บไผ๏ผ‰๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0009710 ; + skos:prefLabel "ใƒˆใƒ ใ‚ผใƒณ็—…"@ja . + + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:1200499" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Becker disease"@en, "ในใฃใ‹ใƒผใณใ‚‡ใ†"@ja-Hira, "ใƒ™ใƒƒใ‚ซใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Becker's disease"@en, "Becker็—…"@ja, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผˆใƒ™ใƒƒใ‚ซใƒผ็—…๏ผˆๅŠฃๆ€ง้บไผ๏ผ‰๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0009715 ; + skos:prefLabel "ใƒ™ใƒƒใ‚ซใƒผ็—…"@ja . + + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:1200500" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sodium channel myotonia"@en, "ใชใจใ‚Šใ†ใ‚€ใกใ‚ƒใญใ‚‹ใฟใŠใจใซใƒผ"@ja-Hira, "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "NaใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใ‚ข"@ja, "NaใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja, "SCM"@en, "ใ‚ซใƒชใ‚ฆใƒ ๆƒน่ตทๆ€งใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja ; + skos:closeMatch obo:MONDO_0018959 ; + skos:prefLabel "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja . + + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:1200501" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paramyotonia congenita"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฑใ‚‰ใฟใŠใจใซใƒผ"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PMC"@en ; + skos:closeMatch obo:MONDO_0008195 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ‘ใƒฉใƒŸใ‚ชใƒˆใƒ‹ใƒผ"@ja . -:1200502 - :hasNotificationNumber "115" ; - terms:description "็™บไฝœๆ€งใฎ้ชจๆ ผ็ญ‹ใฎ่„ฑๅŠ›ใƒป้บป็—บใ‚’ๆฅใ™้บไผๆ€ง็–พๆ‚ฃใงใ€่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็™บไฝœๆ™‚ใฎ่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚ŠไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใจ้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200502" ; + + nando:hasNotificationNumber "115" ; + dcterms:description "็™บไฝœๆ€งใฎ้ชจๆ ผ็ญ‹ใฎ่„ฑๅŠ›ใƒป้บป็—บใ‚’ๆฅใ™้บไผๆ€ง็–พๆ‚ฃใงใ€่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็™บไฝœๆ™‚ใฎ่ก€ๆธ…ใ‚ซใƒชใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚ŠไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใจ้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200502" ; a owl:Class ; - rdfs:label "Hereditary Hypokalemic Periodic Paralysis"@en, "้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Hereditary periodic paralysis"@en ; - skos:closeMatch mondo:MONDO_0000995 ; + rdfs:label "Hereditary periodic paralysis"@en, "ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ"@ja-Hira, "้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Familial periodic paralysis"@en ; + skos:closeMatch obo:MONDO_0000995 ; skos:prefLabel "้บไผๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja . -:1200503 - :hasNotificationNumber "115" ; - terms:identifier "1200503" ; - terms:source ; + + nando:hasNotificationNumber "115" ; + dcterms:identifier "NANDO:1200503" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary Hypokalemic Periodic Paralysis"@en, "้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Hereditary hypokalemic periodic paralysis"@en, "ใ„ใงใ‚“ใ›ใ„ใฆใ„ใ‹ใ‚Šใ†ใ‚€ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ"@ja-Hira, "้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hereditary hypokalaemic periodic paralysis"@en ; + skos:closeMatch obo:MONDO_0008223 ; skos:prefLabel "้บไผๆ€งไฝŽใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja . -:1200504 - :hasNotificationNumber "115" ; - terms:identifier "1200504" ; - terms:source ; + + nando:hasNotificationNumber "115" ; + dcterms:identifier "NANDO:1200504" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary Hyperkalemic Periodic Paralysis"@en, "้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; + rdfs:label "Hereditary hyperkalemic periodic paralysis"@en, "ใ„ใงใ‚“ใ›ใ„ใ“ใ†ใ‹ใ‚Šใ†ใ‚€ใ›ใ„ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ—ใพใฒ"@ja-Hira, "้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Hereditary hyperkalaemic periodic paralysis"@en, "ๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja, "้บไผๆ€งๆญฃใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja ; + skos:closeMatch obo:MONDO_0008224 ; skos:prefLabel "้บไผๆ€ง้ซ˜ใ‚ซใƒชใ‚ฆใƒ ๆ€งๅ‘จๆœŸๆ€งๅ››่‚ข้บป็—บ"@ja . -:1200505 - :hasNotificationNumber "116" ; - terms:description "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจใฏใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใƒป็ต่†œ็‚Žใชใฉใฎใ‚ขใƒˆใƒ”ใƒผ็ด ๅ› ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹่„Š้ซ„็‚Žใงใ‚ใ‚‹ใ€‚1997ๅนดใซๅ‰่‰ฏใ‚‰ใŒ๏ผ”ไพ‹ใฎ้ซ˜IgE่ก€็—‡ใจใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ‚’ไผดใฃใŸใ€ๅ››่‚ขใฎ็•ฐๅธธๆ„Ÿ่ฆš๏ผˆใ˜ใ‚“ใ˜ใ‚“ๆ„Ÿ๏ผ‰ใ‚’ๅ‘ˆใ—้ š้ซ„ๅพŒ็ดขใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹่„Š้ซ„็‚Žใ‚’ๅ ฑๅ‘Šใ—ใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจๅ‘ฝๅใ—ใŸใ€‚"@ja ; - terms:identifier "1200505" ; - terms:source ; + + nando:hasNotificationNumber "116" ; + dcterms:description "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจใฏใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚Žใƒป็ต่†œ็‚Žใชใฉใฎใ‚ขใƒˆใƒ”ใƒผ็ด ๅ› ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹่„Š้ซ„็‚Žใงใ‚ใ‚‹ใ€‚1997ๅนดใซๅ‰่‰ฏใ‚‰ใŒ๏ผ”ไพ‹ใฎ้ซ˜IgE่ก€็—‡ใจใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ‚’ไผดใฃใŸใ€ๅ››่‚ขใฎ็•ฐๅธธๆ„Ÿ่ฆš๏ผˆใ˜ใ‚“ใ˜ใ‚“ๆ„Ÿ๏ผ‰ใ‚’ๅ‘ˆใ—้ š้ซ„ๅพŒ็ดขใ‚’ไธป็—…ๅค‰ใจใ™ใ‚‹่„Š้ซ„็‚Žใ‚’ๅ ฑๅ‘Šใ—ใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Žใจๅ‘ฝๅใ—ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200505" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atopic myelitis"@en, "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Atopic myelitis"@en, "ใ‚ใจใดใƒผใ›ใ„ใ›ใใšใ„ใˆใ‚“"@ja-Hira, "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "ใ‚ขใƒˆใƒ”ใƒผๆ€ง่„Š้ซ„็‚Ž"@ja . -:1200506 - :hasNotificationNumber "117" ; - terms:description "่„Š้ซ„ๅ†…ใซ็ฉบๆดž๏ผˆsyrinx๏ผ‰ใŒๅฝขๆˆใ•ใ‚Œใ€ๅฐ่„ณ็—‡็Šถใ€ไธ‹ไฝ่„ณ็ฅž็ตŒ็—‡็Šถใ€ไธŠไธ‹่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆธฉ็—›่ฆš้šœๅฎณใ€่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ€ๅดๅผฏ็—‡ใชใฉๅคšๅฝฉใช็ฅž็ตŒ็—‡็Šถใ€ๅ…จ่บซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็จฎใ€…ใฎๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200506" ; - terms:source ; + + nando:hasNotificationNumber "117" ; + dcterms:description "่„Š้ซ„ๅ†…ใซ็ฉบๆดž๏ผˆsyrinx๏ผ‰ใŒๅฝขๆˆใ•ใ‚Œใ€ๅฐ่„ณ็—‡็Šถใ€ไธ‹ไฝ่„ณ็ฅž็ตŒ็—‡็Šถใ€ไธŠไธ‹่‚ขใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆธฉ็—›่ฆš้šœๅฎณใ€่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ€ๅดๅผฏ็—‡ใชใฉๅคšๅฝฉใช็ฅž็ตŒ็—‡็Šถใ€ๅ…จ่บซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็จฎใ€…ใฎๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200506" ; + dcterms:source ; a owl:Class ; - rdfs:label "Syringomyelia"@en, "่„Š้ซ„็ฉบๆดž็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017987 ; + rdfs:label "Syringomyelia"@en, "ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ†"@ja-Hira, "่„Š้ซ„็ฉบๆดž็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017987 ; skos:prefLabel "่„Š้ซ„็ฉบๆดž็—‡"@ja . -:1200507 - :hasNotificationNumber "117" ; - terms:identifier "1200507" ; - terms:source ; + + nando:hasNotificationNumber "117" ; + dcterms:identifier "NANDO:1200507" ; + dcterms:source ; a owl:Class ; - rdfs:label "symptomatic Syringomyelia"@en, "็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Symptomatic syringomyelia"@en, "ใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ†"@ja-Hira, "็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017987 ; skos:prefLabel "็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡"@ja . -:1200508 - :hasNotificationNumber "117" ; - terms:identifier "1200508" ; - terms:source ; + + nando:hasNotificationNumber "117" ; + dcterms:identifier "NANDO:1200508" ; + dcterms:source ; a owl:Class ; - rdfs:label "asymptomatic Syringomyelia"@en, "็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Asymptomatic syringomyelia"@en, "ใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใ›ใใšใ„ใใ†ใฉใ†ใ—ใ‚‡ใ†"@ja-Hira, "็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็„ก็—‡ๅ€™ๆ€ง่„Š้ซ„็ฉบๆดž็—‡"@ja . -:1200509 - :hasNotificationNumber "118" ; - terms:description "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พ็—…๏ผˆ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณ๏ผ‰ใฏใ€่„Š้ซ„้ซ„่†œ็˜คใ€็„ก่„ณ็—‡ใ€่„ณ็•™ใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใ€‚็„ก่„ณ็—‡ใจ่„ณ็•™ใฏ้ŽๅŠๆ•ฐใŒ่‡ช็„ถๆต็”ฃใ™ใ‚‹ใ‹ใ€ๅฆŠๅจ ไธญ็ตถใ‚’ใ†ใ‘ใ‚‹ใ‹ใ€ๅ‡บ็”Ÿใ—ใฆใ‚‚24ๆ™‚้–“ไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใฎไบŒๅˆ†่„ŠๆคŽใฏ้ก•ๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida aperta๏ผ‰ใจๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida occulta๏ผ‰ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹ใ€‚่„Š้ซ„้ซ„่†œ็˜คใฏๅ‰่€…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใฏใ€็™บ็”Ÿๅญฆ็š„ใซ็›ธ้•ใ™ใ‚‹ใฎใงใ€ๅŽŸๅ› ใ€่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆณ•ใชใฉใ‚’็”ปไธ€็š„ใซ่ญฐ่ซ–ใ™ใ‚‹ใ“ใจใฏ้ฉๅˆ‡ใงใชใ„ใ€‚็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฏใ€ๅฆŠๅจ ๏ผ–้€ฑ๏ผˆๅ—็ฒพ๏ผ”้€ฑๅพŒ๏ผ‰้ ƒใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅฆŠๅจ ๅ‰ใ‹ใ‚‰่‘‰้…ธใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ50๏ฝž70๏ผ…ใ‚’้˜ฒๆญขใงใใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใฏๆฐด้ ญ็—‡ใ€่„ŠๆคŽๅดๅผฏใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆฉŸ่ƒฝ้šœๅฎณใ€ๆŽ’ไพฟ้šœๅฎณใชใฉใŒไธป่ฆใช่‡จๅบŠ็—‡็Šถใงใ‚ใ‚Šใ€่„ณ็ฅž็ตŒๅค–็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€ๆณŒๅฐฟๅ™จ็ง‘ใ€ๅฐๅ…็ง‘ใ€ใƒชใƒใƒ“ใƒชใƒ†ใƒผใ‚ทใƒงใƒณ็ง‘ใชใฉใฎๅŒ…ๆ‹ฌ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200509" ; - terms:source ; + + nando:hasNotificationNumber "118" ; + dcterms:description "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พ็—…๏ผˆ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณ๏ผ‰ใฏใ€่„Š้ซ„้ซ„่†œ็˜คใ€็„ก่„ณ็—‡ใ€่„ณ็•™ใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใ€‚็„ก่„ณ็—‡ใจ่„ณ็•™ใฏ้ŽๅŠๆ•ฐใŒ่‡ช็„ถๆต็”ฃใ™ใ‚‹ใ‹ใ€ๅฆŠๅจ ไธญ็ตถใ‚’ใ†ใ‘ใ‚‹ใ‹ใ€ๅ‡บ็”Ÿใ—ใฆใ‚‚24ๆ™‚้–“ไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใฎไบŒๅˆ†่„ŠๆคŽใฏ้ก•ๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida aperta๏ผ‰ใจๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽ๏ผˆspina bifida occulta๏ผ‰ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹ใ€‚่„Š้ซ„้ซ„่†œ็˜คใฏๅ‰่€…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎ๏ผ’ใคใฎ็—…ๆ…‹ใฏใ€็™บ็”Ÿๅญฆ็š„ใซ็›ธ้•ใ™ใ‚‹ใฎใงใ€ๅŽŸๅ› ใ€่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆณ•ใชใฉใ‚’็”ปไธ€็š„ใซ่ญฐ่ซ–ใ™ใ‚‹ใ“ใจใฏ้ฉๅˆ‡ใงใชใ„ใ€‚็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฏใ€ๅฆŠๅจ ๏ผ–้€ฑ๏ผˆๅ—็ฒพ๏ผ”้€ฑๅพŒ๏ผ‰้ ƒใซ็™บ็—‡ใ™ใ‚‹ใ€‚ๅฆŠๅจ ๅ‰ใ‹ใ‚‰่‘‰้…ธใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ50๏ฝž70๏ผ…ใ‚’้˜ฒๆญขใงใใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใฏๆฐด้ ญ็—‡ใ€่„ŠๆคŽๅดๅผฏใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆฉŸ่ƒฝ้šœๅฎณใ€ๆŽ’ไพฟ้šœๅฎณใชใฉใŒไธป่ฆใช่‡จๅบŠ็—‡็Šถใงใ‚ใ‚Šใ€่„ณ็ฅž็ตŒๅค–็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€ๆณŒๅฐฟๅ™จ็ง‘ใ€ๅฐๅ…็ง‘ใ€ใƒชใƒใƒ“ใƒชใƒ†ใƒผใ‚ทใƒงใƒณ็ง‘ใชใฉใฎๅŒ…ๆ‹ฌ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200509" ; + dcterms:source ; a owl:Class ; - rdfs:label "Myelomeningocele"@en, "่„Š้ซ„้ซ„่†œ็˜ค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017069, mondo:MONDO_0019773 ; + rdfs:label "Myelomeningocele"@en, "ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ†"@ja-Hira, "่„Š้ซ„้ซ„่†œ็˜ค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017069, obo:MONDO_0019773 ; skos:prefLabel "่„Š้ซ„้ซ„่†œ็˜ค"@ja . -:1200510 - :hasNotificationNumber "119" ; - terms:description "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พคใฏใ€ๆŒ็ถšๆ€งใฎๅ››่‚ขใƒป่บฏๅนนใฎ็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ใƒŸใ‚ชใ‚ญใƒŸใ‚ขใ€ใƒ‹ใƒฅใƒผใƒญใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ปไฝไพๅญ˜ๆ€งใ‚ซใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“๏ผ‰ใŒ้–ข้€ฃใ™ใ‚‹ใ€‚ใ‚ˆใ‚Š้‡็—‡ๅž‹ใฎใƒขใƒซใƒใƒณ็—‡ๅ€™็พคใฏใ€ไธŠ่จ˜ใซๅŠ ใˆใ€ไธๆ•ด่„ˆใ€ๅฐฟๅคฑ็ฆใชใฉใฎๅคšๅฝฉใช่‡ชๅพ‹็ฅž็ตŒ็ณปใฎ็—‡็Šถใจ้‡ๅบฆใฎไธ็œ ใ€ๅคœ้–“่กŒๅ‹•็•ฐๅธธใ€ๅนป่ฆšใ€่จ˜้Š˜ๅŠ›้šœๅฎณใชใฉใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€ๅฅๅฟ˜ใ€ๅคฑ่ฆ‹ๅฝ“่ญ˜้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใชใฉไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใ‚’ๅ‘ˆใ™ใ‚‹ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้–ข้€ฃ่„ณ็‚Žใจใ„ใ†็–พๆ‚ฃๅ˜ไฝใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200510" ; - terms:source ; - a owl:Class ; - rdfs:label "Isaacs syndrome"@en, "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016227, mondo:MONDO_0019399 ; + + nando:hasNotificationNumber "119" ; + dcterms:description "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พคใฏใ€ๆŒ็ถšๆ€งใฎๅ››่‚ขใƒป่บฏๅนนใฎ็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ใƒŸใ‚ชใ‚ญใƒŸใ‚ขใ€ใƒ‹ใƒฅใƒผใƒญใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ปไฝไพๅญ˜ๆ€งใ‚ซใƒชใ‚ฆใƒ ใƒใƒฃใƒใƒซใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“๏ผ‰ใŒ้–ข้€ฃใ™ใ‚‹ใ€‚ใ‚ˆใ‚Š้‡็—‡ๅž‹ใฎใƒขใƒซใƒใƒณ็—‡ๅ€™็พคใฏใ€ไธŠ่จ˜ใซๅŠ ใˆใ€ไธๆ•ด่„ˆใ€ๅฐฟๅคฑ็ฆใชใฉใฎๅคšๅฝฉใช่‡ชๅพ‹็ฅž็ตŒ็ณปใฎ็—‡็Šถใจ้‡ๅบฆใฎไธ็œ ใ€ๅคœ้–“่กŒๅ‹•็•ฐๅธธใ€ๅนป่ฆšใ€่จ˜้Š˜ๅŠ›้šœๅฎณใชใฉใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€ๅฅๅฟ˜ใ€ๅคฑ่ฆ‹ๅฝ“่ญ˜้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใชใฉไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใ‚’ๅ‘ˆใ™ใ‚‹ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้–ข้€ฃ่„ณ็‚Žใจใ„ใ†็–พๆ‚ฃๅ˜ไฝใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200510" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Isaacs syndrome"@en, "ใ‚ใ„ใ–ใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Isaacs' syndrome"@en, "Isaacs็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0019399 ; skos:prefLabel "ใ‚ขใ‚คใ‚ถใƒƒใ‚ฏใ‚น็—‡ๅ€™็พค"@ja . -:1200511 - :hasNotificationNumber "120" ; - terms:description "ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใฏๆŒ็ถšๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็—‡็Šถใงใ€ไธ€้ƒจใฎๆ‚ฃ่€…ใงใฏ็ญ‹ๅŽ็ธฎใฎๆŒ็ถšใŒ็Ÿญใไธ่ฆๅ‰‡ใงใ‚ใฃใŸใ‚Šใ€้–“ๆญ‡็š„ใƒปๅพ‹ๅ‹•็š„ใซ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆŒ็ถšๆ€งใฎ็•ฐๅธธใช็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Šๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ™ใ“ใจใŒๅคšใ„ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’็—‡ๅ€™ใจใ—ใฆ็คบใ™็–พๆ‚ฃใซใฏๅคšใ€…ใ‚ใ‚‹ใŒใ€้บไผๆ€งใŒใ‚ใ‚Šใ€ไป–ใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใซๅฑžใ•ใชใ„็–พๆ‚ฃ็พคใ‚’้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจๅ‘ผใถใ€‚ใ“ใฎ็พคใฎไธญใซใฏใ€้บไผๅญใŒๆœชใ ๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅคšใ€…ใ‚ใ‚‹ใŒใ€ใ“ใ“ใงใฏ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎใ†ใกๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹็–พๆ‚ฃ็พคใ‚’ๆ‰ฑใ†ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏใ€้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡็Šถใ‚’ๅซใ‚€ๆง˜ใ€…ใช็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€DYTใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็พคใจ้‡‘ๅฑžไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹NBIAใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็–พๆ‚ฃใŒๅคšใใ‚’ๅ ใ‚ใ‚‹ใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏๅนผๅ…ใ‹ใ‚‰ๆˆๅนดๆœŸ๏ผˆ้…ใใฆใ‚‚30ๆญณไปฃ๏ผ‰ใซ็™บ็—‡ใ—ใ€ๅ››่‚ขใ€ไฝ“ๅนนใ€้ ญ้ ธ้ƒจใฎใ„ใšใ‚Œใ‹ใซใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’่ชใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ้€ฒ่กŒๆ€งใซ็—‡็Šถใฎๅข—ๆ‚ชใ‚„ๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ—ใ€ๆญฉ่กŒ้šœๅฎณใ€่ตท็ซ‹้šœๅฎณใ€ๅบงไฝ้šœๅฎณใ‚’ๆฅใ™ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆใฏไป–ใฎไธ้šๆ„้‹ๅ‹•๏ผไพ‹ใˆใฐๆŒฏๆˆฆใ€่ˆž่ธ้‹ๅ‹•ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใชใฉใ‚’ๅŒๆ™‚ใซ็คบใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€็ฒพ็ฅž็™บ้”้…ๆปžใ‚„็Ÿฅ็š„ๆฉŸ่ƒฝๆธ›้€€ใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏ้€ฒ่กŒๆ€งใฎ็—…ๆ…‹ใ‚’็คบใ—ใ€็™บ็—‡่ฆๅ› ใซใคใ„ใฆใฏๆœช่งฃๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ไธ€่ˆฌใซใ€ไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใŒใ€็–พๆ‚ฃใซใ‚ˆใฃใฆใฏๅฏพ็—‡็™‚ๆณ•ใซใ‚ˆใฃใฆ็—‡็Šถใฎไธ€้ƒจใŒ่ปฝๅฟซๅˆใฏ็ทฉ่งฃใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใซใ‚‚็ถ™็ถšๆฒป็™‚ใจ้ฉๅˆ‡ใชๅฏพ็—‡็™‚ๆณ•ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ็ญๅŠใณๅ›ฝ็ซ‹็ฒพ็ฅžใƒป็ฅž็ตŒใ‚ปใƒณใ‚ฟใƒผๅง”่จ—็ ”็ฉถใซใ‚ˆใ‚‹็ ”็ฉถ็ญใซใ‚ˆใ‚Œใฐใ€้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจ่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใฏๅ…จๅ›ฝใง็ด„500ไบบใงใ‚ใ‚‹ใ€‚ใพใŸใ€NBIใ‚ทใƒชใƒผใ‚บใซ้–ขใ™ใ‚‹่ชฟๆŸปใงใฏNBIใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹็—‡ไพ‹ๆ•ฐใฏ100ไพ‹ๆœชๆบ€ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200511" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:description "ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใฏๆŒ็ถšๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็—‡็Šถใงใ€ไธ€้ƒจใฎๆ‚ฃ่€…ใงใฏ็ญ‹ๅŽ็ธฎใฎๆŒ็ถšใŒ็Ÿญใไธ่ฆๅ‰‡ใงใ‚ใฃใŸใ‚Šใ€้–“ๆญ‡็š„ใƒปๅพ‹ๅ‹•็š„ใซ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆŒ็ถšๆ€งใฎ็•ฐๅธธใช็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚Šๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ™ใ“ใจใŒๅคšใ„ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’็—‡ๅ€™ใจใ—ใฆ็คบใ™็–พๆ‚ฃใซใฏๅคšใ€…ใ‚ใ‚‹ใŒใ€้บไผๆ€งใŒใ‚ใ‚Šใ€ไป–ใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใซๅฑžใ•ใชใ„็–พๆ‚ฃ็พคใ‚’้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจๅ‘ผใถใ€‚ใ“ใฎ็พคใฎไธญใซใฏใ€้บไผๅญใŒๆœชใ ๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅคšใ€…ใ‚ใ‚‹ใŒใ€ใ“ใ“ใงใฏ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎใ†ใกๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹็–พๆ‚ฃ็พคใ‚’ๆ‰ฑใ†ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏใ€้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡็Šถใ‚’ๅซใ‚€ๆง˜ใ€…ใช็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€DYTใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็พคใจ้‡‘ๅฑžไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹NBIAใ‚ทใƒชใƒผใ‚บใซๅฑžใ™ใ‚‹็–พๆ‚ฃใŒๅคšใใ‚’ๅ ใ‚ใ‚‹ใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏๅนผๅ…ใ‹ใ‚‰ๆˆๅนดๆœŸ๏ผˆ้…ใใฆใ‚‚30ๆญณไปฃ๏ผ‰ใซ็™บ็—‡ใ—ใ€ๅ››่‚ขใ€ไฝ“ๅนนใ€้ ญ้ ธ้ƒจใฎใ„ใšใ‚Œใ‹ใซใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ‚’่ชใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ้€ฒ่กŒๆ€งใซ็—‡็Šถใฎๅข—ๆ‚ชใ‚„ๅงฟไฝใฎ็•ฐๅธธใ‚’ๆฅใ—ใ€ๆญฉ่กŒ้šœๅฎณใ€่ตท็ซ‹้šœๅฎณใ€ๅบงไฝ้šœๅฎณใ‚’ๆฅใ™ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆใฏไป–ใฎไธ้šๆ„้‹ๅ‹•๏ผไพ‹ใˆใฐๆŒฏๆˆฆใ€่ˆž่ธ้‹ๅ‹•ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใชใฉใ‚’ๅŒๆ™‚ใซ็คบใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€็ฒพ็ฅž็™บ้”้…ๆปžใ‚„็Ÿฅ็š„ๆฉŸ่ƒฝๆธ›้€€ใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฎๅคšใใฏ้€ฒ่กŒๆ€งใฎ็—…ๆ…‹ใ‚’็คบใ—ใ€็™บ็—‡่ฆๅ› ใซใคใ„ใฆใฏๆœช่งฃๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ไธ€่ˆฌใซใ€ไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใŒใ€็–พๆ‚ฃใซใ‚ˆใฃใฆใฏๅฏพ็—‡็™‚ๆณ•ใซใ‚ˆใฃใฆ็—‡็Šถใฎไธ€้ƒจใŒ่ปฝๅฟซๅˆใฏ็ทฉ่งฃใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใซใ‚‚็ถ™็ถšๆฒป็™‚ใจ้ฉๅˆ‡ใชๅฏพ็—‡็™‚ๆณ•ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถ็ญๅŠใณๅ›ฝ็ซ‹็ฒพ็ฅžใƒป็ฅž็ตŒใ‚ปใƒณใ‚ฟใƒผๅง”่จ—็ ”็ฉถใซใ‚ˆใ‚‹็ ”็ฉถ็ญใซใ‚ˆใ‚Œใฐใ€้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจ่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใฏๅ…จๅ›ฝใง็ด„500ไบบใงใ‚ใ‚‹ใ€‚ใพใŸใ€NBIใ‚ทใƒชใƒผใ‚บใซ้–ขใ™ใ‚‹่ชฟๆŸปใงใฏNBIใซ็ฝนๆ‚ฃใ—ใฆใ„ใ‚‹็—‡ไพ‹ๆ•ฐใฏ100ไพ‹ๆœชๆบ€ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200511" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary dystonia"@en, "้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Hereditary dystonia"@en, "ใ„ใงใ‚“ใ›ใ„ใ˜ใ™ใจใซใ‚"@ja-Hira, "้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0044807 ; skos:prefLabel "้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200512 - :hasNotificationNumber "120" ; - terms:identifier "1200512" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200512" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT1 dystonia"@en, "DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 1"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ1ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT1"@en, "Dystonia 1, torsion, autosomal dominant"@en, "Dystonia musculorum deformans (DMD)"@en, "Oppenheim's dystonia"@en, "SLC30A10 deficiency"@en, "Torsion dystonia-1"@en, "ๆ—ฉๆœŸ็™บ็—‡ๆป่ปขใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; + skos:closeMatch obo:MONDO_0007492, obo:MONDO_0044808 ; skos:prefLabel "DYT1ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200513 - :hasNotificationNumber "120" ; - terms:identifier "1200513" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200513" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT2 dystonia"@en, "DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 2"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ2ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT2"@en, "Dystonia 2, autosomal recessive"@en, "SLC39A14 deficiency"@en, "Torsion dystonia-2"@en ; + skos:closeMatch obo:MONDO_0009141 ; skos:prefLabel "DYT2ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200514 - :hasNotificationNumber "120" ; - terms:identifier "1200514" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200514" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT3 dystonia"@en, "DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "X ๆŸ“่‰ฒไฝ“้€ฃ้Ž–ใ‚ทใ‚™ใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒใ‚šใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚นใƒ "@ja, "X-linked dystonia-parkinsonism"@en, "lubag"@en ; - skos:closeMatch mondo:MONDO_0010747 ; + rdfs:label "DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 3"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ3ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT3"@en, "Dystonia 3, torsion, X-linked"@en, "X-linked dystonia-parkinsonism"@en, "XDP"@en, "XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚นใƒ "@ja, "lubag"@en ; + skos:closeMatch obo:MONDO_0010747 ; skos:prefLabel "DYT3ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200515 - :hasNotificationNumber "120" ; - terms:identifier "1200515" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200515" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT4 dystonia"@en, "DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 4"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ4ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT4"@en, "Dystonia 4, torsion, autosomal dominant"@en ; + skos:closeMatch obo:MONDO_0007493 ; skos:prefLabel "DYT4ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200516 - :hasNotificationNumber "120" ; - terms:identifier "1200516" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200516" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT5 dystonia"@en, "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "DYT14 dystonia"@en, "DYT14ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dopamine-responsive dystonia"@en, "Segawa syndrome"@en, "ใƒ‰ใƒ‘ๅๅฟœๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "็€ฌๅท็—…"@ja ; - skos:closeMatch mondo:MONDO_0016812 ; + rdfs:label "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 5"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ5ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DRD"@en, "DYT5"@en, "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia, DOPA-responsive"@en, "Segawa syndrome"@en, "ใƒ‰ใƒ‘ๅๅฟœๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "็€ฌๅท็—…"@ja ; + skos:closeMatch obo:MONDO_0007495, obo:MONDO_0016812 ; skos:prefLabel "DYT5ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200517 - :hasNotificationNumber "120" ; - terms:identifier "1200517" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200517" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT6 dystonia"@en, "DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 6 "@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ6ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT6"@en, "Dystonia 6, torsion"@en ; + skos:closeMatch obo:MONDO_0011264 ; skos:prefLabel "DYT6ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200518 - :hasNotificationNumber "120" ; - terms:identifier "1200518" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200518" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT7 dystonia"@en, "DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 7"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ7ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel " adult-onset focal dystonia"@en, "DYT7"@en, "Dystonia 7, torsion"@en ; + skos:closeMatch obo:MONDO_0011200 ; skos:prefLabel "DYT7ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200519 - :hasNotificationNumber "120" ; - terms:identifier "1200519" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200519" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT8 dystonia"@en, "DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "PNKD1"@en, "Paroxysmal nonkinesigenic dyskinesia 1"@en, "็™บไฝœๆ€ง้ž้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1"@ja ; - skos:closeMatch mondo:MONDO_0007326 ; + rdfs:label "DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 8"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ8ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT8"@en, "PNKD1"@en, "Paroxysmal nonkinesigenic dyskinesia 1"@en, "็™บไฝœๆ€ง้ž้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1"@ja ; + skos:closeMatch obo:MONDO_0007326 ; skos:prefLabel "DYT8ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200520 - :hasNotificationNumber "120" ; - terms:identifier "1200520" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200520" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT9 dystonia"@en, "DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "CSE"@en, "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"@en, "็™บไฝœๆ€ง่ˆž่ธใ‚ขใƒ†ใƒˆใƒผใ‚ทใ‚นใƒป็—™ๆ€งๅฏพ้บป็—บ"@ja ; - skos:closeMatch mondo:MONDO_0010983 ; + rdfs:label "DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 9"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ9ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CSE "@en, "DYT9"@en, "Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity"@en, "็™บไฝœๆ€ง่ˆž่ธใ‚ขใƒ†ใƒˆใƒผใ‚ทใ‚นใƒป็—™ๆ€งๅฏพ้บป็—บ"@ja ; + skos:closeMatch obo:MONDO_0010983 ; skos:prefLabel "DYT9ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200521 - :hasNotificationNumber "120" ; - terms:identifier "1200521" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200521" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT10 dystonia"@en, "DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "EKD1"@en, "Episodic kinesigenic dyskinesia 1"@en, "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1"@ja ; - skos:closeMatch mondo:MONDO_0007494 ; + rdfs:label "DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 10"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ10ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT10"@en, "EKD1"@en, "Episodic kinesigenic dyskinesia 1"@en, "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข1"@ja ; + skos:closeMatch obo:MONDO_0007494 ; skos:prefLabel "DYT10ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200522 - :hasNotificationNumber "120" ; - terms:identifier "1200522" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200522" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT11 dystonia"@en, "DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "MDS"@en, "Myoclonus-dystonia syndrome"@en, "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใƒปใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0000903, mondo:MONDO_0008044, mondo:MONDO_0009532, mondo:MONDO_0018881 ; + rdfs:label "DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 11"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ11ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "DYT11"@en, "MDS"@en, "Myoclonus-dystonia syndrome"@en, "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใƒปใ‚ธใ‚นใƒˆใƒ‹ใ‚ข็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0000903 ; skos:prefLabel "DYT11ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200523 - :hasNotificationNumber "120" ; - terms:identifier "1200523" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200523" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT12 dystonia"@en, "DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 12"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ12ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT12"@en ; + skos:closeMatch obo:MONDO_0007496 ; skos:prefLabel "DYT12ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200524 - :hasNotificationNumber "120" ; - terms:identifier "1200524" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200524" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rapid-onset dystonia-parkinsonism"@en, "ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ "@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Rapid-onset dystonia-parkinsonism"@en, "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ˜ใ™ใจใซใ‚ใƒปใฑใƒผใใ‚“ใใซใšใ‚€"@ja-Hira, "ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ "@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "RDP"@en ; - skos:closeMatch mondo:MONDO_0007496 ; + skos:closeMatch obo:MONDO_0007496 ; skos:prefLabel "ๆ€ฅๆ€ง็™บ็—‡ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใƒปใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ "@ja . -:1200525 - :hasNotificationNumber "120" ; - terms:identifier "1200525" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200525" ; + dcterms:source ; a owl:Class ; - rdfs:label "alternating hemiplegia of childhood"@en, "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Alternating hemiplegia of childhood"@en, "ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ"@ja-Hira, "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "AHC"@en ; - skos:closeMatch mondo:MONDO_0010264, mondo:MONDO_0016241 ; + skos:closeMatch obo:MONDO_0016241 ; skos:prefLabel "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja . -:1200526 - :hasNotificationNumber "120" ; - terms:identifier "1200526" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200526" ; + dcterms:source ; a owl:Class ; - rdfs:label "cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss"@en, "ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss"@en, "ใ—ใ‚‡ใ†ใฎใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ—ใ‚“ใถใฏใ‚“ใ—ใ‚ƒใ—ใ‚‡ใ†ใ—ใคใŠใ†ใใใ—ใ—ใ‚“ใ‘ใ„ใ„ใ—ใ‚…ใใ‹ใ‚“ใ‹ใใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใกใ‚‡ใ†ใ‹ใใ—ใ‚‡ใ†ใŒใ„"@ja-Hira, "ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "CAPOS"@en ; - skos:closeMatch mondo:MONDO_0011038 ; + skos:closeMatch obo:MONDO_0011038 ; skos:prefLabel "ๅฐ่„ณๅคฑ่ชฟ็—‡ๆทฑ้ƒจๅๅฐ„ๆถˆๅคฑๅ‡น่ถณ่ฆ–็ฅž็ตŒ่Ž็ธฎๆ„Ÿ่ฆš็ฅž็ตŒ้šœๅฎณๆ€ง่ด่ฆš้šœๅฎณ"@ja . -:1200527 - :hasNotificationNumber "120" ; - terms:identifier "1200527" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200527" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT13 dystonia"@en, "DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 13"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ13ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT13"@en, "Dystonia 13, torsion, autosomal dominant"@en ; + skos:closeMatch obo:MONDO_0011886 ; skos:prefLabel "DYT13ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200528 - :hasNotificationNumber "120" ; - terms:identifier "1200528" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200528" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT15 dystonia"@en, "DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 15"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ15ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT15"@en, "Dystonia-15, myoclonic"@en ; + skos:closeMatch obo:MONDO_0011844 ; skos:prefLabel "DYT15ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200529 - :hasNotificationNumber "120" ; - terms:identifier "1200529" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200529" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT16 dystonia"@en, "DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 16"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ16ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT16"@en ; + skos:closeMatch obo:MONDO_0012789 ; skos:prefLabel "DYT16ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200530 - :hasNotificationNumber "120" ; - terms:identifier "1200530" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200530" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT17 dystonia"@en, "DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 17"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ17ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT17"@en, "Dystonia-17, primary torsion, autosomal recessive"@en ; + skos:closeMatch obo:MONDO_0012895 ; skos:prefLabel "DYT17ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200531 - :hasNotificationNumber "120" ; - terms:identifier "1200531" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200531" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT18 dystonia"@en, "DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "PED"@en, "Paroxysmal execise-induced dyskinesia"@en, "็™บไฝœๆ€งๅŠดไฝœ่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข"@ja ; - skos:closeMatch mondo:MONDO_0012805 ; + rdfs:label "DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 18"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ18ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT18"@en, "GLUT1 deficiency syndrome 2, childhood onset"@en, "PED"@en, "Paroxysmal execise-induced dyskinesia"@en, "็™บไฝœๆ€งๅŠดไฝœ่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข"@ja ; + skos:closeMatch obo:MONDO_0012805 ; skos:prefLabel "DYT18ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200532 - :hasNotificationNumber "120" ; - terms:identifier "1200532" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200532" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT19 dystonia"@en, "DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "EKD2"@en, "Episodic kinesigenic dyskinesia 2"@en, "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข2"@ja ; - skos:closeMatch mondo:MONDO_0012603 ; + rdfs:label "DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 19"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ19ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT19"@en, "EKD2"@en, "Episodic kinesigenic dyskinesia 2"@en, "ๅๅพฉ็™บไฝœๆ€ง้‹ๅ‹•่ช˜็™บๆ€งใ‚ธใ‚นใ‚ญใƒใ‚ธใ‚ข2"@ja ; + skos:closeMatch obo:MONDO_0012603 ; skos:prefLabel "DYT19ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200533 - :hasNotificationNumber "120" ; - terms:identifier "1200533" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200533" ; + dcterms:source ; a owl:Class ; - rdfs:label "DYT20 dystonia"@en, "DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "PNKD2"@en, "Paroxysmal nonkinesigenic dyskinesia 2"@en ; - skos:closeMatch mondo:MONDO_0012629 ; + rdfs:label "DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja, "Dystonia 20"@en, "ใงใƒใƒผใ‚ใ„ใฆใƒใƒผ20ใ˜ใ™ใจใซใ‚"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "DYT20"@en, "PNKD2"@en, "Paroxysmal nonkinesigenic dyskinesia 2"@en ; + skos:closeMatch obo:MONDO_0012629 ; skos:prefLabel "DYT20ใ‚ธใ‚นใƒˆใƒ‹ใ‚ข"@ja . -:1200534 - :hasNotificationNumber "120" ; - terms:identifier "1200534" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200534" ; + dcterms:source ; a owl:Class ; - rdfs:label "NBIA1"@ja, "NBIA๏ผ‘"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "NBIA1"@ja, "Neurodegeneration with brain iron accumulation type 1"@en, "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ1"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Hallervorden-Spatz syndrome"@en, "NBIA 1"@en, "PKAN"@en, "Pantothenate kinase-associated neurodegeneration"@en, "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง"@ja ; + skos:closeMatch obo:MONDO_0009319 ; skos:prefLabel "NBIA1"@ja . -:1200535 - :hasNotificationNumber "120" ; - terms:identifier "1200535" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200535" ; + dcterms:source ; a owl:Class ; - rdfs:label "classical PKAN"@en, "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Classical pantothenate kinase-associated neurodegeneration"@en, "Hallervorden-Spatz syndrome "@en ; - skos:closeMatch mondo:MONDO_0009319 ; + rdfs:label "Classic pantothenate kinase-associated neurodegeneration"@en, "ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใธใ‚“ใ„ใซใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใ“ใฆใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Classic Hallervorden-Spatz syndrome"@en, "Classic PKAN"@en, "NBIA1, classic form"@en ; + skos:closeMatch obo:MONDO_0016304 ; skos:prefLabel "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja . -:1200536 - :hasNotificationNumber "120" ; - terms:identifier "1200536" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200536" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atypical PKAN"@en, "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Atypical pantothenate kinase-associated neurodegeneration"@en, "Hallervorden-Spatz syndrome "@en ; - skos:closeMatch mondo:MONDO_0009319, mondo:MONDO_0016305 ; + rdfs:label "Atypical pantothenate kinase-associated neurodegeneration"@en, "ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใธใ‚“ใ„ใซใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„๏ผ‰"@ja-Hira, "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Atypical Hallervorden-Spatz syndrome"@en, "Atypical PKAN"@en, "NBIA1, atypical form"@en ; + skos:closeMatch obo:MONDO_0016305 ; skos:prefLabel "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja . -:1200537 - :hasNotificationNumber "120" ; - terms:identifier "1200537" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200537" ; + dcterms:source ; a owl:Class ; - rdfs:label "NBIA2a"@en, "NBIA2a"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Classical INAD"@en, "Classical Infantile neuroaxonal dystrophy"@en, "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja ; - skos:closeMatch mondo:MONDO_0024457 ; + rdfs:label "NBIA2a"@ja, "Neurodegeneration with brain iron accumulation type 2A"@en, "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ2ใˆใƒผ"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Classic INAD"@en, "Classic infantile neuroaxonal dystrophy"@en, "NBIA2A"@en, "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅคๅ…ธๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0024457 ; skos:prefLabel "NBIA2a"@ja . -:1200538 - :hasNotificationNumber "120" ; - terms:identifier "1200538" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200538" ; + dcterms:source ; a owl:Class ; - rdfs:label "NBIA2b"@en, "NBIA2b"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Atypical INAD"@en, "Atypical Infantile neuroaxonal dystrophy"@en, "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; - skos:closeMatch mondo:MONDO_0012444 ; + rdfs:label "NBIA2b"@ja, "Neurodegeneration with brain iron accumulation type 2B"@en, "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ2ใณใƒผ"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Atypical neuroaxonal dystrophy"@en, "NBIA2B"@en, "atypical NAD"@en, "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ้žๅ…ธๅž‹ไพ‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0012444 ; skos:prefLabel "NBIA2b"@ja . -:1200539 - :hasNotificationNumber "120" ; - terms:identifier "1200539" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200539" ; + dcterms:source ; a owl:Class ; - rdfs:label "NBIA๏ผ“"@en, "NBIA๏ผ“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Neuroferritinopathy"@en, "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0011638 ; + rdfs:label "NBIA๏ผ“"@ja, "Neurodegeneration with brain iron accumulation type 3"@en, "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ3"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "NBIA 3"@en, "Neuroferritinopathy"@en, "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡"@ja ; + skos:closeMatch obo:MONDO_0011638 ; skos:prefLabel "NBIA๏ผ“"@ja . -:1200540 - :hasNotificationNumber "120" ; - terms:identifier "1200540" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200540" ; + dcterms:source ; a owl:Class ; - rdfs:label "NBIA๏ผ”"@en, "NBIA๏ผ”"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Aceruloplasminemia"@en, "Hereditary ceruloplasmin deficiency "@en, "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡"@ja ; - skos:closeMatch mondo:MONDO_0011426 ; + rdfs:label "NBIA๏ผ”"@ja, "Neurodegeneration with brain iron accumulation type 4"@en, "ใˆใฌใณใƒผใ‚ใ„ใˆใƒผ4"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Aceruloplasminemia"@en, "Hereditary ceruloplasmin deficiency"@en, "MPAN"@en, "Mitochondrial membrane protein-associated neurodegeneration"@en, "NBIA4"@en, "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0011426, obo:MONDO_0013674 ; skos:prefLabel "NBIA๏ผ”"@ja . -:1200541 - :hasNotificationNumber "120" ; - terms:identifier "1200541" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:1200541" ; + dcterms:source ; a owl:Class ; - rdfs:label "FAHN"@en, "FAHN"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Fatty Acid Hydroxylase-associated neurodegeneration"@en, "dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35"@en, "่„‚่‚ช้…ธๆฐด้…ธๅŒ–้…ต็ด ๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡"@ja ; - skos:closeMatch mondo:MONDO_0012866, mondo:MONDO_0017999 ; + rdfs:label "FAHN"@ja, "Fatty acid hydroxylase-associated neurodegeneration"@en, "ใˆใตใˆใƒผใˆใ„ใกใˆใฌ"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia"@en, "FAHN"@en, "SPG35"@en, "Spastic paraplegia 35"@en, "่„‚่‚ช้…ธๆฐด้…ธๅŒ–้…ต็ด ๅค‰็•ฐใซไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡"@ja ; + skos:closeMatch obo:MONDO_0012866, obo:MONDO_0017999 ; skos:prefLabel "FAHN"@ja . -:1200542 - :hasNotificationNumber "121" ; - terms:description "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ใฏใ€ใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–้บไผๅญๅค‰็•ฐใซ้–ข้€ฃใ™ใ‚‹ๅคšๅฝฉใช็ฅž็ตŒ็—‡ๅ€™ใ‚’ๆ•ฐๅๅนดใซใ‚ใŸใ‚Š่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใฏๅŸบๅบ•ๆ ธ็—…ๅค‰ใ‚’ๅๆ˜ ใ—ใฆT2ๅปถ้•ทใจ็Ÿญ็ธฎใŒๆททๅœจใ™ใ‚‹ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใจใ•ใ‚Œใ€็—…็†ๅญฆ็š„ใซใฏๅค‰็•ฐใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใ€ๆญฃๅธธใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใŠใ‚ˆใณ้‡้Ž–ใŒใ€็ฅž็ตŒ็ดฐ่ƒžไฝ“ๅŠใณๆ ธๅ†…ใ€ใ‚ฐใƒชใ‚ข็ดฐ่ƒžๆ ธๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200542" ; - terms:source ; + + nando:hasNotificationNumber "121" ; + dcterms:description "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡ใฏใ€ใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–้บไผๅญๅค‰็•ฐใซ้–ข้€ฃใ™ใ‚‹ๅคšๅฝฉใช็ฅž็ตŒ็—‡ๅ€™ใ‚’ๆ•ฐๅๅนดใซใ‚ใŸใ‚Š่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใฏๅŸบๅบ•ๆ ธ็—…ๅค‰ใ‚’ๅๆ˜ ใ—ใฆT2ๅปถ้•ทใจ็Ÿญ็ธฎใŒๆททๅœจใ™ใ‚‹ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใจใ•ใ‚Œใ€็—…็†ๅญฆ็š„ใซใฏๅค‰็•ฐใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใ€ๆญฃๅธธใƒ•ใ‚งใƒชใƒใƒณ่ปฝ้Ž–ใŠใ‚ˆใณ้‡้Ž–ใŒใ€็ฅž็ตŒ็ดฐ่ƒžไฝ“ๅŠใณๆ ธๅ†…ใ€ใ‚ฐใƒชใ‚ข็ดฐ่ƒžๆ ธๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200542" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neuroferritinopathy"@en, "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011638 ; + rdfs:label "Neuroferritinopathy"@en, "ใ—ใ‚“ใ‘ใ„ใตใ‡ใ‚Šใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011638 ; skos:prefLabel "็ฅž็ตŒใƒ•ใ‚งใƒชใƒใƒณ็—‡"@ja . -:1200543 - :hasNotificationNumber "122" ; - terms:description "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ใฏใ€้‰„๏ผˆใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณ๏ผ‰ใŒ่„ณ่กจใ€่„ณๅฎŸ่ณชใซๆฒˆ็€ใ—ใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่„ณใ€่„ณๅนนใชใฉๅพŒ้ ญ่“‹็ชฉใ‚„่„Š้ซ„ใ‚’ไธญๅฟƒใซไธญๆžข็ฅž็ตŒ็ณปใซใณใพใ‚“ๆ€งใƒปๅฏพ็งฐๆ€งใซ็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆๅคๅ…ธๅž‹๏ผ‰ใจใ€้™ๅฑ€ๆ€ง๏ผˆไพ‹๏ผšไธ€ๅดใฎๅ‰้ ญ่‘‰ใชใฉ๏ผ‰ใซ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใฎ๏ผ’็จฎ้กžใŒใ‚ใ‚Šใ€้€šๅธธใฏๅ‰่€…ใ‚’ๆŒ‡ใ™ใ€‚ๅคๅ…ธๅž‹ใฎ่‡จๅบŠ็—‡ๅ€™ใจใ—ใฆๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ‚’้ซ˜ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ไธ€้ƒจใซใฏใ€่„ณๅ‹•่„ˆ็˜คใ€่„ณๅ‹•้™่„ˆ็˜ปใ€ใ‚ขใƒŸใƒญใ‚คใƒ‰่ก€็ฎก็—‡ใ€่…ซ็˜ใ€ๅค–ๅ‚ทใ€่„ณ่„Š้ซ„ๆถฒๆธ›ๅฐ‘็—‡ใ€่„ŠๆŸฑ็ฎกๅ†…ใฎๅšข่ƒžๆ€ง็–พๆ‚ฃใƒป็กฌ่†œ็•ฐๅธธ็—‡ใชใฉใฎๅˆไฝตใ‚’่ชใ‚ใ€ๅŽŸๅ› ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ˜Žใ‚‰ใ‹ใช้–ข้€ฃ็–พๆ‚ฃใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ๅ ดๅˆใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200543" ; - terms:source ; + + nando:hasNotificationNumber "122" ; + dcterms:description "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡ใฏใ€้‰„๏ผˆใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณ๏ผ‰ใŒ่„ณ่กจใ€่„ณๅฎŸ่ณชใซๆฒˆ็€ใ—ใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่„ณใ€่„ณๅนนใชใฉๅพŒ้ ญ่“‹็ชฉใ‚„่„Š้ซ„ใ‚’ไธญๅฟƒใซไธญๆžข็ฅž็ตŒ็ณปใซใณใพใ‚“ๆ€งใƒปๅฏพ็งฐๆ€งใซ็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆๅคๅ…ธๅž‹๏ผ‰ใจใ€้™ๅฑ€ๆ€ง๏ผˆไพ‹๏ผšไธ€ๅดใฎๅ‰้ ญ่‘‰ใชใฉ๏ผ‰ใซ็”Ÿใ˜ใ‚‹ใ‚ฟใ‚คใƒ—๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใฎ๏ผ’็จฎ้กžใŒใ‚ใ‚Šใ€้€šๅธธใฏๅ‰่€…ใ‚’ๆŒ‡ใ™ใ€‚ๅคๅ…ธๅž‹ใฎ่‡จๅบŠ็—‡ๅ€™ใจใ—ใฆๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ‚’้ซ˜ๅบฆใซ่ชใ‚ใ‚‹ใ€‚ไธ€้ƒจใซใฏใ€่„ณๅ‹•่„ˆ็˜คใ€่„ณๅ‹•้™่„ˆ็˜ปใ€ใ‚ขใƒŸใƒญใ‚คใƒ‰่ก€็ฎก็—‡ใ€่…ซ็˜ใ€ๅค–ๅ‚ทใ€่„ณ่„Š้ซ„ๆถฒๆธ›ๅฐ‘็—‡ใ€่„ŠๆŸฑ็ฎกๅ†…ใฎๅšข่ƒžๆ€ง็–พๆ‚ฃใƒป็กฌ่†œ็•ฐๅธธ็—‡ใชใฉใฎๅˆไฝตใ‚’่ชใ‚ใ€ๅŽŸๅ› ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๆ˜Žใ‚‰ใ‹ใช้–ข้€ฃ็–พๆ‚ฃใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ๅ ดๅˆใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200543" ; + dcterms:source ; a owl:Class ; - rdfs:label "Superficial siderosis"@en, "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Superficial siderosis"@en, "ใฎใ†ใฒใ‚‡ใ†ใธใ‚‚ใ˜ใงใ‚Šใ‚“ใกใ‚“ใกใ‚ƒใใ—ใ‚‡ใ†"@ja-Hira, "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Brain table hemosiderosis"@en ; - skos:closeMatch mondo:MONDO_0016594 ; + skos:closeMatch obo:MONDO_0016594 ; skos:prefLabel "่„ณ่กจใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณๆฒˆ็€็—‡"@ja . -:1200544 - :hasNotificationNumber "123" ; - terms:description "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆCARASIL๏ผ‰ใฏใ€้’ๅนดๆœŸใ‹ใ‚‰่‹ฅๅนดๆˆไบบๆœŸใซใ€้€ฒ่กŒๆ€งใฎๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใ€ๅคš็™บๆ€งใƒฉใ‚ฏใƒŠๆข—ๅกžใ€็ฆฟ้ ญใ€ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœฌ้‚ฆใง๏ผ—ๅฎถ็ณป๏ผ˜ไพ‹ใ€ๆœฌ้‚ฆไปฅๅค–ใง๏ผ•ไพ‹๏ผ•ๅฎถ็ณปใฎ้บไผๅญ่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200544" ; - terms:source ; - a owl:Class ; - rdfs:label "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy"@en, "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis"@en, "Cerebral autosomal recessive arteriopathy"@en, "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis"@en ; - skos:closeMatch mondo:MONDO_0010829 ; + + nando:hasNotificationNumber "123" ; + dcterms:description "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆCARASIL๏ผ‰ใฏใ€้’ๅนดๆœŸใ‹ใ‚‰่‹ฅๅนดๆˆไบบๆœŸใซใ€้€ฒ่กŒๆ€งใฎๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใ€ๅคš็™บๆ€งใƒฉใ‚ฏใƒŠๆข—ๅกžใ€็ฆฟ้ ญใ€ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœฌ้‚ฆใง๏ผ—ๅฎถ็ณป๏ผ˜ไพ‹ใ€ๆœฌ้‚ฆไปฅๅค–ใง๏ผ•ไพ‹๏ผ•ๅฎถ็ณปใฎ้บไผๅญ่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200544" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy"@en, "ใจใใจใ†ใจใธใ‚“ใ‘ใ„ใ›ใ„ใ›ใใคใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis"@en, "CARASIL"@en, "CARASIL"@ja, "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis"@en ; + skos:closeMatch obo:MONDO_0010829 ; skos:prefLabel "็ฆฟ้ ญใจๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็™ฝ่ณช่„ณ็—‡"@ja . -:1200545 - :hasNotificationNumber "124" ; - terms:description "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡๏ผˆCerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy๏ผšCADASIL๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ—ใ€่‹ฅๅนดๆœŸใ‹ใ‚‰ๅ‰ๅ…†ใ‚’ไผดใ†็‰‡้ ญ็—›ใŒๅ…ˆ่กŒใ€CTใƒปMRIใงๅŒๅฎšใ•ใ‚Œใ‚‹ๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใŒๅพใ€…ใซ้€ฒ่กŒใ€ไธญๅนดๆœŸใ‹ใ‚‰่„ณๅ’ไธญๅฑ้™บๅ› ๅญใŒใชใใฆใ‚‚็šฎ่ณชไธ‹็™ฝ่ณชใซใƒฉใ‚ฏใƒŠๆข—ๅกžใ‚’็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ—ใ€ใ†ใค็—‡็Šถใ€่„ณ่ก€็ฎกๆ€ง่ช็Ÿฅ็—‡ใซ่‡ณใ‚‹ใ€‚NOTCH3้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ€็—…็†ๅญฆ็š„ใซ่„ณๅฐ่ก€็ฎกใฎๅนณๆป‘็ญ‹ใฎๅค‰ๆ€งใจใ€้›ป้ก•ใงใ‚ชใ‚นใƒŸใ‚ฆใƒ ใซๆฟƒๆŸ“ใ™ใ‚‹้ก†็ฒ’๏ผˆGOM๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ—ใ€้บไผๅญ่จบๆ–ญๅˆใฏ็—…็†่จบๆ–ญใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200545" ; - terms:source ; - a owl:Class ; - rdfs:label "Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy"@en, "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy"@en, "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"@en ; - skos:closeMatch mondo:MONDO_0007432 ; + + nando:hasNotificationNumber "124" ; + dcterms:description "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡๏ผˆCerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy๏ผšCADASIL๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ—ใ€่‹ฅๅนดๆœŸใ‹ใ‚‰ๅ‰ๅ…†ใ‚’ไผดใ†็‰‡้ ญ็—›ใŒๅ…ˆ่กŒใ€CTใƒปMRIใงๅŒๅฎšใ•ใ‚Œใ‚‹ๅคง่„ณ็™ฝ่ณช็—…ๅค‰ใŒๅพใ€…ใซ้€ฒ่กŒใ€ไธญๅนดๆœŸใ‹ใ‚‰่„ณๅ’ไธญๅฑ้™บๅ› ๅญใŒใชใใฆใ‚‚็šฎ่ณชไธ‹็™ฝ่ณชใซใƒฉใ‚ฏใƒŠๆข—ๅกžใ‚’็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ—ใ€ใ†ใค็—‡็Šถใ€่„ณ่ก€็ฎกๆ€ง่ช็Ÿฅ็—‡ใซ่‡ณใ‚‹ใ€‚NOTCH3้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ€็—…็†ๅญฆ็š„ใซ่„ณๅฐ่ก€็ฎกใฎๅนณๆป‘็ญ‹ใฎๅค‰ๆ€งใจใ€้›ป้ก•ใงใ‚ชใ‚นใƒŸใ‚ฆใƒ ใซๆฟƒๆŸ“ใ™ใ‚‹้ก†็ฒ’๏ผˆGOM๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ—ใ€้บไผๅญ่จบๆ–ญๅˆใฏ็—…็†่จบๆ–ญใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200545" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy"@en, "ใฒใ—ใคใ‹ใ“ใ†ใใใจใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฎใ†ใฉใ†ใฟใ‚ƒใใ—ใ‚‡ใ†"@ja-Hira, "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy"@en, "CADASIL"@en, "CADASIL"@ja, "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"@en ; + skos:closeMatch obo:MONDO_0007432 ; skos:prefLabel "็šฎ่ณชไธ‹ๆข—ๅกžใจ็™ฝ่ณช่„ณ็—‡ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่„ณๅ‹•่„ˆ็—‡"@ja . -:1200546 - :hasNotificationNumber "125" ; - terms:description "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆhereditary diffuse leukoencephalopathy with spheroid๏ผšHDLS๏ผ‰ใฏใ€ๅคง่„ณ็™ฝ่ณชใ‚’็—…ๅค‰ใฎไธปๅบงใจใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ๅญค็™บไพ‹ใŒๆ•ฐๅคšใๅญ˜ๅœจใ™ใ‚‹ใ€‚1984ๅนดใซใ‚นใ‚ฆใ‚งใƒผใƒ‡ใƒณๅฎถ็ณปใงๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ไธ–็•Œๅ„ๅœฐใซ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚HDLSใฏใ€่„ณ็”Ÿๆคœๅˆใฏๅ‰–ๆคœใซใ‚ˆใ‚‹็ฅž็ตŒ็—…็†ๅญฆ็š„ๆคœๆŸปใซใ‚ˆใ‚Šๅพ“ๆฅ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใŒใ€2012ๅนดใซHDLSใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆไปฅ้™ใฏใ€้บไผๅญๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใŒๅฏ่ƒฝใซใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200546" ; - terms:source ; - a owl:Class ; - rdfs:label "Hereditary diffuse leukoencephalopathy with spheroid"@en, "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "125" ; + dcterms:description "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆhereditary diffuse leukoencephalopathy with spheroid๏ผšHDLS๏ผ‰ใฏใ€ๅคง่„ณ็™ฝ่ณชใ‚’็—…ๅค‰ใฎไธปๅบงใจใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ๅญค็™บไพ‹ใŒๆ•ฐๅคšใๅญ˜ๅœจใ™ใ‚‹ใ€‚1984ๅนดใซใ‚นใ‚ฆใ‚งใƒผใƒ‡ใƒณๅฎถ็ณปใงๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ไธ–็•Œๅ„ๅœฐใซ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚HDLSใฏใ€่„ณ็”Ÿๆคœๅˆใฏๅ‰–ๆคœใซใ‚ˆใ‚‹็ฅž็ตŒ็—…็†ๅญฆ็š„ๆคœๆŸปใซใ‚ˆใ‚Šๅพ“ๆฅ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใŒใ€2012ๅนดใซHDLSใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆไปฅ้™ใฏใ€้บไผๅญๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใŒๅฏ่ƒฝใซใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200546" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hereditary diffuse leukoencephalopathy with spheroid"@en, "ใ—ใ‚“ใ‘ใ„ใ˜ใใ•ใใ™ใตใ‡ใ‚ใ„ใฉใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใ„ใงใ‚“ใ›ใ„ใณใพใ‚“ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HDLS"@en ; + skos:closeMatch obo:MONDO_0009096 ; skos:prefLabel "็ฅž็ตŒ่ปธ็ดขใ‚นใƒ•ใ‚งใƒญใ‚คใƒ‰ๅฝขๆˆใ‚’ไผดใ†้บไผๆ€งใณใพใ‚“ๆ€ง็™ฝ่ณช่„ณ็—‡"@ja . -:1200547 - :hasNotificationNumber "126" ; - terms:description "ใƒšใƒชใƒผ๏ผˆPerry๏ผ‰็—‡ๅ€™็พคใฏ้žๅธธใซใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ1975ๅนดใซPerryใ‚‰ใซใ‚ˆใ‚Šๅฎถๆ—ๆ€งใฎใ†ใค็—‡็ŠถๅŠใณใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงๆฌง็ฑณ่ซธๅ›ฝใ‚„ๆœฌ้‚ฆใ‹ใ‚‰ๅŒๆง˜ใฎๅฎถ็ณปใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆใฏๅนณๅ‡48ๆญณ็™บ็—‡ใจ่‹ฅๅนดใง็™บ็—‡ใ—ใ€ๆฏ”่ผƒ็š„ๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใจไฝ“้‡ๆธ›ๅฐ‘ใซๅŠ ใˆใฆใ€ใ†ใค็—‡็Šถใ€ใ‚ขใƒ‘ใ‚ทใƒผใ€่„ฑๆŠ‘ๅˆถใ€ๅผ•ใใ“ใ‚‚ใ‚Šใจใ„ใฃใŸ็ฒพ็ฅž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆไธญๆžขๆ€งใฎไฝŽๆ›ๆฐ—ใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใซๅฏพใ—ใฆL-ใƒ‰ใƒ‘่ฃฝๅ‰คใชใฉใฎใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ๆฒป็™‚่–ฌใ‚„ๆŠ—ใ†ใค่–ฌใ€ไฝŽๆ›ๆฐ—ใซๅฏพใ—ใฆไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใชใฉๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€ๆ นๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚"@ja ; - terms:identifier "1200547" ; - terms:source ; - a owl:Class ; - rdfs:label "Perry syndrome"@en, "ใƒšใƒชใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008201 ; + + nando:hasNotificationNumber "126" ; + dcterms:description "ใƒšใƒชใƒผ๏ผˆPerry๏ผ‰็—‡ๅ€™็พคใฏ้žๅธธใซใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ1975ๅนดใซPerryใ‚‰ใซใ‚ˆใ‚Šๅฎถๆ—ๆ€งใฎใ†ใค็—‡็ŠถๅŠใณใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงๆฌง็ฑณ่ซธๅ›ฝใ‚„ๆœฌ้‚ฆใ‹ใ‚‰ๅŒๆง˜ใฎๅฎถ็ณปใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆใฏๅนณๅ‡48ๆญณ็™บ็—‡ใจ่‹ฅๅนดใง็™บ็—‡ใ—ใ€ๆฏ”่ผƒ็š„ๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใจไฝ“้‡ๆธ›ๅฐ‘ใซๅŠ ใˆใฆใ€ใ†ใค็—‡็Šถใ€ใ‚ขใƒ‘ใ‚ทใƒผใ€่„ฑๆŠ‘ๅˆถใ€ๅผ•ใใ“ใ‚‚ใ‚Šใจใ„ใฃใŸ็ฒพ็ฅž็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆไธญๆžขๆ€งใฎไฝŽๆ›ๆฐ—ใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒ‹ใ‚บใƒ ใซๅฏพใ—ใฆL-ใƒ‰ใƒ‘่ฃฝๅ‰คใชใฉใฎใƒ‘ใƒผใ‚ญใƒณใ‚ฝใƒณ็—…ๆฒป็™‚่–ฌใ‚„ๆŠ—ใ†ใค่–ฌใ€ไฝŽๆ›ๆฐ—ใซๅฏพใ—ใฆไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใชใฉๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€ๆ นๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200547" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Perry syndrome"@en, "ใบใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒšใƒชใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Perry็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008201 ; skos:prefLabel "ใƒšใƒชใƒผ็—‡ๅ€™็พค"@ja . -:1200548 - :hasNotificationNumber "127" ; - terms:description "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใฏไธปใจใ—ใฆๅˆ่€ๆœŸใซ็™บ็—‡ใ—ใ€ๅคง่„ณใฎๅ‰้ ญ่‘‰ใ‚„ๅด้ ญ่‘‰ใ‚’ไธญๅฟƒใซ็ฅž็ตŒๅค‰ๆ€งใ‚’ๆฅใŸใ™ใŸใ‚ใ€ไบบๆ ผๅค‰ๅŒ–ใ‚„่กŒๅ‹•้šœๅฎณใ€ๅคฑ่ชž็—‡ใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใชใฉใŒ็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ฝก"@ja ; - terms:identifier "1200548" ; + + nando:hasNotificationNumber "127" ; + dcterms:description "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡ใฏไธปใจใ—ใฆๅˆ่€ๆœŸใซ็™บ็—‡ใ—ใ€ๅคง่„ณใฎๅ‰้ ญ่‘‰ใ‚„ๅด้ ญ่‘‰ใ‚’ไธญๅฟƒใซ็ฅž็ตŒๅค‰ๆ€งใ‚’ๆฅใŸใ™ใŸใ‚ใ€ไบบๆ ผๅค‰ๅŒ–ใ‚„่กŒๅ‹•้šœๅฎณใ€ๅคฑ่ชž็—‡ใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใชใฉใŒ็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ฝก"@ja ; + dcterms:identifier "NANDO:1200548" ; a owl:Class ; - rdfs:label "Frontotemporal lobar degeneration"@en, "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017276 ; + rdfs:label "Frontotemporal lobar degeneration"@en, "ใœใ‚“ใจใ†ใใใจใ†ใ‚ˆใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FTLD"@en ; + skos:closeMatch obo:MONDO_0017276 ; skos:prefLabel "ๅ‰้ ญๅด้ ญ่‘‰ๅค‰ๆ€ง็—‡"@ja . -:1200549 - :hasNotificationNumber "127" ; - terms:identifier "1200549" ; - terms:source ; + + nando:hasNotificationNumber "127" ; + dcterms:identifier "NANDO:1200549" ; + dcterms:source ; a owl:Class ; - rdfs:label "Behavioral variant frontotemporal dementia"@en, "๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017160 ; + rdfs:label "(ใ“ใ†ใฉใ†ใ„ใ˜ใ‚‡ใ†ใŒใŸ)ใœใ‚“ใจใ†ใใใจใ†ใŒใŸใซใ‚“ใกใ—ใ‚‡ใ†"@ja-Hira, "Behavioral variant frontotemporal dementia"@en, "๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "bvFTD"@en, "่กŒๅ‹•็•ฐๅธธๅž‹ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡"@ja ; + skos:closeMatch obo:MONDO_0017160 ; skos:prefLabel "๏ผˆ่กŒๅ‹•็•ฐๅธธๅž‹๏ผ‰ๅ‰้ ญๅด้ ญๅž‹่ช็Ÿฅ็—‡"@ja . -:1200550 - :hasNotificationNumber "127" ; - terms:identifier "1200550" ; - terms:source ; + + nando:hasNotificationNumber "127" ; + dcterms:identifier "NANDO:1200550" ; + dcterms:source ; a owl:Class ; - rdfs:label "Semantic dementia"@en, "ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010857 ; + rdfs:label "Semantic dementia"@en, "ใ„ใฟใ›ใ„ใซใ‚“ใกใ—ใ‚‡ใ†"@ja-Hira, "ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SD"@en ; + skos:closeMatch obo:MONDO_0010857 ; skos:prefLabel "ๆ„ๅ‘ณๆ€ง่ช็Ÿฅ็—‡"@ja . -:1200551 - :hasNotificationNumber "128" ; - terms:description "็œผ็ƒ้‹ๅ‹•ใ‚„้‹ๅ‹•ๅคฑ่ชฟใ€ๆ„่ญ˜้šœๅฎณใ‚’ไธ‰ไธปๅพดใจใ—ใ€่„ณๅนนใ‚’็—…ๅค‰ใฎ้ฆ–ๅบงใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏ๏ผ”้€ฑไปฅๅ†…ใซใƒ”ใƒผใ‚ฏใจใชใ‚Šใ€ใใฎๅพŒใฏๅพใ€…ใซๅ›žๅพฉใซๅ‘ใ‹ใ†ใฎใŒๅŽŸๅ‰‡ใงใ‚ใ‚‹ใŒใ€็ด„ๅŠๆ•ฐใฎ็—‡ไพ‹ใงๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ—ใ€ไธปใจใ—ใฆๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…จใฆใฎๅนด้ฝขๅฑคใง็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใŒใ€30ๆญณไปฃใ‚’ไธญๅฟƒใจใ—ใฆ่‹ฅๅนด่€…ใฎ็™บ็—‡ใŒๅคšใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200551" ; - terms:source ; - a owl:Class ; - rdfs:label "Bickerstaff's Brainstem encephalitis"@en, "ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Bickerstaff Brainstem encephalitis"@en, "Vickers staff brainstem encephalitis"@en ; - skos:closeMatch mondo:MONDO_0019208 ; + + nando:hasNotificationNumber "128" ; + dcterms:description "็œผ็ƒ้‹ๅ‹•ใ‚„้‹ๅ‹•ๅคฑ่ชฟใ€ๆ„่ญ˜้šœๅฎณใ‚’ไธ‰ไธปๅพดใจใ—ใ€่„ณๅนนใ‚’็—…ๅค‰ใฎ้ฆ–ๅบงใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—‡็Šถใฏ๏ผ”้€ฑไปฅๅ†…ใซใƒ”ใƒผใ‚ฏใจใชใ‚Šใ€ใใฎๅพŒใฏๅพใ€…ใซๅ›žๅพฉใซๅ‘ใ‹ใ†ใฎใŒๅŽŸๅ‰‡ใงใ‚ใ‚‹ใŒใ€็ด„ๅŠๆ•ฐใฎ็—‡ไพ‹ใงๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ—ใ€ไธปใจใ—ใฆๅ››่‚ข็ญ‹ๅŠ›ไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…จใฆใฎๅนด้ฝขๅฑคใง็™บ็—‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใŒใ€30ๆญณไปฃใ‚’ไธญๅฟƒใจใ—ใฆ่‹ฅๅนด่€…ใฎ็™บ็—‡ใŒๅคšใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200551" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bickerstaff's brainstem encephalitis"@en, "ใณใฃใ‹ใƒผใ™ใŸใฃใตใฎใ†ใ‹ใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Bickerstaff brainstem encephalitis"@en, "Bickerstaffๅž‹่„ณๅนน่„ณ็‚Ž"@ja, "Vickers staff brainstem encephalitis"@en ; + skos:closeMatch obo:MONDO_0019208 ; skos:prefLabel "ใƒ“ใƒƒใ‚ซใƒผใ‚นใ‚ฟใƒƒใƒ•่„ณๅนน่„ณ็‚Ž"@ja . -:1200552 - :hasNotificationNumber "129" ; - terms:description "ๅฐๅ…ใซๅคšใใ€็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆฟ€ใซ็™บ็—‡ใ—ใ€ๅ…ธๅž‹ไพ‹ใงใฏไบŒ็›ธๆ€งใฎ็—™ๆ”ฃใจใใ‚Œใซ็ถšใๆ„่ญ˜้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ„่ญ˜้šœๅฎณใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใซใ€ๅคง่„ณ็šฎ่ณชใฎๆฉŸ่ƒฝไฝŽไธ‹ใจใฆใ‚“ใ‹ใ‚“ใŒใ—ใฐใ—ใฐๅ‡บ็พใ™ใ‚‹ใ€‚็ฝน็—…็Ž‡ใฏ๏ผ‘ๅนดใซ100๏ฝž200ไบบใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200552" ; - terms:source ; - a owl:Class ; - rdfs:label "Acute Encephalopathy with Febrile Convulsive Status Epilepticus"@en, "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Acute encephalopathy with biphasic seizures and late reduced diffusion"@en, "Epilepticus type acute encphalopathy"@en, "Epilepticus type biphasic acute encphalopathy"@en ; - skos:closeMatch mondo:MONDO_0018198 ; + + nando:hasNotificationNumber "129" ; + dcterms:description "ๅฐๅ…ใซๅคšใใ€็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆฟ€ใซ็™บ็—‡ใ—ใ€ๅ…ธๅž‹ไพ‹ใงใฏไบŒ็›ธๆ€งใฎ็—™ๆ”ฃใจใใ‚Œใซ็ถšใๆ„่ญ˜้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ„่ญ˜้šœๅฎณใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใซใ€ๅคง่„ณ็šฎ่ณชใฎๆฉŸ่ƒฝไฝŽไธ‹ใจใฆใ‚“ใ‹ใ‚“ใŒใ—ใฐใ—ใฐๅ‡บ็พใ™ใ‚‹ใ€‚็ฝน็—…็Ž‡ใฏ๏ผ‘ๅนดใซ100๏ฝž200ไบบใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200552" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute encephalopathy with biphasic seizures and late reduced diffusion"@en, "ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸ๏ผˆใซใใ†ใ›ใ„๏ผ‰ใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AESD"@en, "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡"@ja ; + skos:closeMatch obo:MONDO_0018198 ; skos:prefLabel "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡"@ja . -:1200553 - :hasNotificationNumber "130" ; - terms:description "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใฏใ€ๅ…จ่บซใฎ็„ก็—›ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ€้‹ๅ‹•้บป็—บใ‚’ไผดใ‚ใชใ„ใ€‚ๆธฉ็—›่ฆš้šœๅฎณใซ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใ‚’ใ€้บไผๆ€งๆ„Ÿ่ฆš่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจๅ‘ผใถใŒใ€ใ“ใฎใ†ใก๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใŒๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใซ็›ธๅฝ“ใ™ใ‚‹๏ผˆ๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใฏๆ˜Ž็ขบใชๅŒบๅˆฅใŒๅ›ฐ้›ฃใง่‡จๅบŠ็—‡็ŠถใŒใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใŸใ‚ใ€ไธก่€…ใ‚’ๅซใ‚ใ‚‹๏ผ‰ใ€‚๏ผ”ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใซใ€ๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ๅˆใฏๆถˆๅคฑใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€๏ผ•ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’็คบใ™ใŒ็™บๆฑ—ไฝŽไธ‹ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไผดใ‚ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€๏ผ”ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚็ฒพ็ฅž็™บ้”้…ๆปžใŒใ”ใ่ปฝๅบฆใฎๆ‚ฃ่€…ใ€๏ผ•ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚่ปฝๅบฆใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’็คบใ™ๆ‚ฃ่€…ใ‚‚ใŠใ‚Šใ€่ฟ‘ๅนดใ“ใ‚Œใ‚‰ใฏใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200553" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital Insensitivity to Pain with Anhidrosis"@en, "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009746 ; + + nando:hasNotificationNumber "130" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใฏใ€ๅ…จ่บซใฎ็„ก็—›ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ€้‹ๅ‹•้บป็—บใ‚’ไผดใ‚ใชใ„ใ€‚ๆธฉ็—›่ฆš้šœๅฎณใซ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใ‚’ใ€้บไผๆ€งๆ„Ÿ่ฆš่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจๅ‘ผใถใŒใ€ใ“ใฎใ†ใก๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใŒๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใซ็›ธๅฝ“ใ™ใ‚‹๏ผˆ๏ผ”ๅž‹ใจ๏ผ•ๅž‹ใฏๆ˜Ž็ขบใชๅŒบๅˆฅใŒๅ›ฐ้›ฃใง่‡จๅบŠ็—‡็ŠถใŒใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใŸใ‚ใ€ไธก่€…ใ‚’ๅซใ‚ใ‚‹๏ผ‰ใ€‚๏ผ”ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใซใ€ๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ๅˆใฏๆถˆๅคฑใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€๏ผ•ๅž‹ใฏๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’็คบใ™ใŒ็™บๆฑ—ไฝŽไธ‹ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไผดใ‚ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€๏ผ”ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚็ฒพ็ฅž็™บ้”้…ๆปžใŒใ”ใ่ปฝๅบฆใฎๆ‚ฃ่€…ใ€๏ผ•ๅž‹ใจ่จบๆ–ญใ•ใ‚Œใฆใ‚‚่ปฝๅบฆใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’็คบใ™ๆ‚ฃ่€…ใ‚‚ใŠใ‚Šใ€่ฟ‘ๅนดใ“ใ‚Œใ‚‰ใฏใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200553" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital insensitivity to pain with anhidrosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใคใ†ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CIPA"@en ; + skos:closeMatch obo:MONDO_0009746 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡"@ja . -:1200554 - :hasNotificationNumber "131" ; - terms:description "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ๏ผˆGFAP๏ผ‰ใ€ฮฑ B-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็ŠถๅŠใณMRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹๏ผˆ๏ผ‘ๅž‹๏ผ‰ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹๏ผˆ๏ผ’ๅž‹๏ผ‰ใ€ไธญ้–“ๅž‹๏ผˆ๏ผ“ๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใซใŠใ„ใฆGFAPใฎใƒŸใ‚นใ‚ปใƒณใ‚นๅค‰็•ฐใ‚ใ‚‹ใ„ใฏๆ•ฐๅกฉๅŸบๆฌ ๅคฑใ‚„ๆŒฟๅ…ฅใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใซใคใ„ใฆใฏ็ ”็ฉถใŒ้€ฒใฟใคใคใ‚ใ‚‹ใŒๅๅˆ†่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๆฒป็™‚ใฏๅฏพ็—‡็™‚ๆณ•ใซใจใฉใพใ‚‹ใ€‚"@ja ; - terms:identifier "1200554" ; - terms:source ; - a owl:Class ; - rdfs:label "Alexander Disease"@en, "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008752 ; + + nando:hasNotificationNumber "131" ; + dcterms:description "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ๏ผˆGFAP๏ผ‰ใ€ฮฑ B-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ใ‚ขใ‚นใƒˆใƒญใ‚ตใ‚คใƒˆใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็ŠถๅŠใณMRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹๏ผˆ๏ผ‘ๅž‹๏ผ‰ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹๏ผˆ๏ผ’ๅž‹๏ผ‰ใ€ไธญ้–“ๅž‹๏ผˆ๏ผ“ๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใซใŠใ„ใฆGFAPใฎใƒŸใ‚นใ‚ปใƒณใ‚นๅค‰็•ฐใ‚ใ‚‹ใ„ใฏๆ•ฐๅกฉๅŸบๆฌ ๅคฑใ‚„ๆŒฟๅ…ฅใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๆ…‹ใซใคใ„ใฆใฏ็ ”็ฉถใŒ้€ฒใฟใคใคใ‚ใ‚‹ใŒๅๅˆ†่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๆฒป็™‚ใฏๅฏพ็—‡็™‚ๆณ•ใซใจใฉใพใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200554" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alexander disease"@en, "ใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Alexander็—…"@ja, "AxD"@en ; + skos:closeMatch obo:MONDO_0008752 ; skos:prefLabel "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja . -:1200555 - :hasNotificationNumber "131" ; - terms:identifier "1200555" ; - terms:source ; + + nando:hasNotificationNumber "131" ; + dcterms:identifier "NANDO:1200555" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alexander disease type I"@en, "ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "1ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja, "cerebral Alexander disease"@en ; - skos:closeMatch mondo:MONDO_0018209 ; + rdfs:label "Alexander disease type I"@en, "ใ ใ„ใฎใ†ใ‚†ใ†ใ„ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†"@ja-Hira, "ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "1ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja, "Cerebral Alexander disease"@en, "Type I AxD"@en ; + skos:closeMatch obo:MONDO_0018209 ; skos:prefLabel "ๅคง่„ณๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja . -:1200556 - :hasNotificationNumber "131" ; - terms:identifier "1200556" ; - terms:source ; + + nando:hasNotificationNumber "131" ; + dcterms:identifier "NANDO:1200556" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alexander disease type II"@en, "ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "2ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja, "bulbospinal Alexander disease"@en ; - skos:closeMatch mondo:MONDO_0018210 ; + rdfs:label "Alexander disease type II"@en, "ใˆใ‚“ใšใ„ใƒปใ›ใใšใ„ใ‚†ใ†ใ„ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†"@ja-Hira, "ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "2ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja, "Bulbospinal Alexander disease"@en, "Type II AxD"@en ; + skos:closeMatch obo:MONDO_0018210 ; skos:prefLabel "ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja . -:1200557 - :hasNotificationNumber "131" ; - terms:identifier "1200557" ; - terms:source ; + + nando:hasNotificationNumber "131" ; + dcterms:identifier "NANDO:1200557" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alexander disease type III"@en, "ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Alexander disease type III"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "3ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; skos:prefLabel "ไธญ้–“ๅž‹ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja . -:1200558 - :hasNotificationNumber "132" ; - terms:description "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ๏ผˆใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค๏ผ‰ใฏใ€่ƒŽๅ…ใ‹ใ‚‰ๆ–ฐ็”Ÿๅ…ๆœŸใฎ้ž้€ฒ่กŒๆ€ง่„ณ้šœๅฎณใซใ‚ˆใ‚Šๅ’ฝ้ ญๅ–‰้ ญ้ƒจ๏ผˆ็ƒ็ญ‹๏ผ‰ใฎ้‹ๅ‹•้šœๅฎณใ‚’ๆฅใ—ใ€ๅšฅไธ‹ใ€ๆ‘‚้ฃŸใ€ไผš่ฉฑใ€ๅ”พๆถฒใ‚ณใƒณใƒˆใƒผใƒซใฎๆฉŸ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็—‡็Šถใฏๆˆ้•ทใซไผดใฃใฆๅค‰ๅŒ–ใ™ใ‚‹ใŒใ€ๆถˆๅคฑใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚็ตŒ้Žใฏ่„ณๆ€ง้บป็—บใซไผผใ‚‹ใŒใ€ไธŠไธ‹่‚ขใฎ้‹ๅ‹•้šœๅฎณใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅ‚ใ‚ทใƒซใƒ“ใ‚ฆใ‚น่ฃ‚็—‡ๅ€™็พคใจใฏ็•ฐใชใ‚Šใ€็”ปๅƒไธŠ็—…ๅค‰ใ‚’ไผดใ‚ใชใ„ใ€‚"@ja ; - terms:identifier "1200558" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital Suprabulbar Paresis"@en, "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Congenital supranuclear bulbar palsy"@en, "Worcester drought syndrome"@en, "Worster-Drought syndrome"@en ; - skos:closeMatch mondo:MONDO_0008503 ; + + nando:hasNotificationNumber "132" ; + dcterms:description "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ๏ผˆใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค๏ผ‰ใฏใ€่ƒŽๅ…ใ‹ใ‚‰ๆ–ฐ็”Ÿๅ…ๆœŸใฎ้ž้€ฒ่กŒๆ€ง่„ณ้šœๅฎณใซใ‚ˆใ‚Šๅ’ฝ้ ญๅ–‰้ ญ้ƒจ๏ผˆ็ƒ็ญ‹๏ผ‰ใฎ้‹ๅ‹•้šœๅฎณใ‚’ๆฅใ—ใ€ๅšฅไธ‹ใ€ๆ‘‚้ฃŸใ€ไผš่ฉฑใ€ๅ”พๆถฒใ‚ณใƒณใƒˆใƒผใƒซใฎๆฉŸ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็—‡็Šถใฏๆˆ้•ทใซไผดใฃใฆๅค‰ๅŒ–ใ™ใ‚‹ใŒใ€ๆถˆๅคฑใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚็ตŒ้Žใฏ่„ณๆ€ง้บป็—บใซไผผใ‚‹ใŒใ€ไธŠไธ‹่‚ขใฎ้‹ๅ‹•้šœๅฎณใฏใชใ„ใ‹ใ€ใ‚ใฃใฆใ‚‚่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅ‚ใ‚ทใƒซใƒ“ใ‚ฆใ‚น่ฃ‚็—‡ๅ€™็พคใจใฏ็•ฐใชใ‚Šใ€็”ปๅƒไธŠ็—…ๅค‰ใ‚’ไผดใ‚ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200558" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital suprabulbar paresis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ˜ใ‚‡ใ†ใ›ใ„ใใ‚…ใ†ใพใฒ"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital supranuclear bulbar palsy"@en, "Worster-Drought syndrome"@en, "ใ‚ฆใƒผใ‚นใ‚ฟใƒผใƒปใƒ‰ใƒญใƒผใƒˆ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008503 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆ ธไธŠๆ€ง็ƒ้บป็—บ"@ja . -:1200559 - :hasNotificationNumber "133" ; - terms:description "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€ๅฐ‘ใชใใจใ‚‚็”Ÿ็”ฃๅ…๏ผ˜ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ๅ…จๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏ1,000ไบบๅ‰ๅพŒใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200559" ; - terms:source ; - a owl:Class ; - rdfs:label "Mobius Syndrome"@en, "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Moebius syndrome"@en ; - skos:closeMatch mondo:MONDO_0008006 ; + + nando:hasNotificationNumber "133" ; + dcterms:description "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€ๅฐ‘ใชใใจใ‚‚็”Ÿ็”ฃๅ…๏ผ˜ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚ๅ…จๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏ1,000ไบบๅ‰ๅพŒใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200559" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Moebius syndrome"@en, "ใ‚ใณใ†ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Moebius็—‡ๅ€™็พค"@ja, "Mรถbius syndrome"@en ; + skos:closeMatch obo:MONDO_0008006 ; skos:prefLabel "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค"@ja . -:1200560 - :hasNotificationNumber "134" ; - terms:description "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข๏ผˆDe Morsier๏ผ‰็—‡ๅ€™็พคใฏใ€้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ๏ผ“็—‡็Šถใ‚’ๆฅใ™ๅ…ธๅž‹ไพ‹ใฏ30๏ผ…ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200560" ; - terms:source ; - a owl:Class ; - rdfs:label "Septo-optic Dysplasia / De Morsier syndrome"@en, "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "134" ; + dcterms:description "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข๏ผˆDe Morsier๏ผ‰็—‡ๅ€™็พคใฏใ€้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ๏ผ“็—‡็Šถใ‚’ๆฅใ™ๅ…ธๅž‹ไพ‹ใฏ30๏ผ…ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200560" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Septo-optic dysplasia / De Morsier syndrome"@en, "ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†/ใฉใ‚‚ใ‚‹ใ—ใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SOD"@en, "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผDe Morsier็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008428 ; skos:prefLabel "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡๏ผใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค"@ja . -:1200561 - :hasNotificationNumber "134" ; - terms:identifier "1200561" ; - terms:source ; - a owl:Class ; - rdfs:label "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "De Morsier syndrome"@en, "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008428 . - -:1200562 - :hasNotificationNumber "135" ; - terms:description "1965ๅนดใซAicardiใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่„ณๆขๆฌ ๆใ€็‚น้ ญใฆใ‚“ใ‹ใ‚“ใ€็ถฒ่„ˆ็ตก่†œ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ๆง˜ใ€…ใช็จฎ้กžใฎ่„ณๅฅ‡ๅฝขใ€้›ฃ็Ÿฅๆ€ง็—™ๆ”ฃใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ๅ‘ˆใ—ใ€ๆœฌ็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ฅž็ตŒ็™บ็”Ÿ็•ฐๅธธใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŽŸๅ› ใ‚‚ไธๆ˜Žใงใ‚ใ‚‹ใŸใ‚ๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "1200562" ; - terms:source ; - a owl:Class ; - rdfs:label "Aicardi syndrome"@en, "ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010568 ; + + nando:hasNotificationNumber "134" ; + dcterms:identifier "NANDO:1200561" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Septo-optic dysplasia"@en, "ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "De Morsier syndrome"@en, "De Morsier็—‡ๅ€™็พค"@ja, "SOD"@en, "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค"@ja, "ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅธธ็—‡"@ja, "ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅฝขๆˆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008428, obo:MONDO_0019029 ; + skos:prefLabel "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡"@ja . + + + nando:hasNotificationNumber "135" ; + dcterms:description "1965ๅนดใซAicardiใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่„ณๆขๆฌ ๆใ€็‚น้ ญใฆใ‚“ใ‹ใ‚“ใ€็ถฒ่„ˆ็ตก่†œ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใ€‚ๆง˜ใ€…ใช็จฎ้กžใฎ่„ณๅฅ‡ๅฝขใ€้›ฃ็Ÿฅๆ€ง็—™ๆ”ฃใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ๅ‘ˆใ—ใ€ๆœฌ็–พๆ‚ฃใฎๆœฌๆ…‹ใฏ็ฅž็ตŒ็™บ็”Ÿ็•ฐๅธธใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŽŸๅ› ใ‚‚ไธๆ˜Žใงใ‚ใ‚‹ใŸใ‚ๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200562" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aicardi syndrome"@en, "ใ‚ใ„ใ‹ใ‚‹ใงใƒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Aicardi็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010568 ; skos:prefLabel "ใ‚ขใ‚คใ‚ซใƒซใƒ‡ใ‚ฃ็—‡ๅ€™็พค"@ja . -:1200563 - :hasNotificationNumber "136" ; - terms:description "็‰‡ๅดๅทจ่„ณ็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซไธ€ๅดใฎๅคง่„ณๅŠ็ƒใŒๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚ŠๅทจๅคงๅŒ–ใ—ใŸ็Šถๆ…‹ใงใ€้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใ€ไธๅ…จ็‰‡้บป็—บใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใฎไธ‰ไธปๅพดใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใฎใชใ„ๅญค็™บๆ€ง ๏ผˆisolated form๏ผ‰ ใจ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใ‚’ๅŸบ็คŽ็–พๆ‚ฃใจใ™ใ‚‹็—‡ๅ€™ๆ€ง ๏ผˆsyndromic form๏ผ‰ ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200563" ; - terms:source ; + + nando:hasNotificationNumber "136" ; + dcterms:description "็‰‡ๅดๅทจ่„ณ็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซไธ€ๅดใฎๅคง่„ณๅŠ็ƒใŒๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚ŠๅทจๅคงๅŒ–ใ—ใŸ็Šถๆ…‹ใงใ€้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใ€ไธๅ…จ็‰‡้บป็—บใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใฎไธ‰ไธปๅพดใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใฎใชใ„ๅญค็™บๆ€ง ๏ผˆisolated form๏ผ‰ ใจ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใ‚’ๅŸบ็คŽ็–พๆ‚ฃใจใ™ใ‚‹็—‡ๅ€™ๆ€ง ๏ผˆsyndromic form๏ผ‰ ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200563" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hemimegalencephaly"@en, "็‰‡ๅดๅทจ่„ณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020492 ; + rdfs:label "Hemimegalencephaly"@en, "ใธใ‚“ใใใใ‚‡ใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็‰‡ๅดๅทจ่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020492 ; skos:prefLabel "็‰‡ๅดๅทจ่„ณ็—‡"@ja . -:1200564 - :hasNotificationNumber "137" ; - terms:description "ๅคง่„ณ็šฎ่ณชใซใŠใ‘ใ‚‹ๅฑ€ๆ‰€็š„ใช็™บ็”Ÿ็•ฐๅธธ๏ผˆ็ฅž็ตŒ็ดฐ่ƒžใฎ็™บ็”Ÿใ€ๅข—ๆฎ–ๅŠใณ้Š่ตฐใฎ้šœๅฎณ๏ผ‰ใซ้–ข้€ฃใ—ใŸ็—…ๅทฃใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธปใซไนณๅนผๅ…๏ฝžๅญฆ็ซฅๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€ไธญๅญฆ็”Ÿไปฅ้™ใ‚ใ‚‹ใ„ใฏๆˆไบบใงใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚MRIใซใ‚ˆใ‚Š้™ๅฑ€ๆ€งใฎ็šฎ่ณชใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็•ฐๅธธๆ‰€่ฆ‹ใงๆคœๅ‡บใ•ใ‚Œใ‚‹ไธ€ๆ–นใ€MRI็•ฐๅธธใ‚’ๆฌ ใ็—…็†่จบๆ–ญใงๆ˜Žใ‚‰ใ‹ใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณช็ฅž็ตŒ็ดฐ่ƒžใฎ้…ๅˆ—ใŒๆง˜ใ€…ใช็จ‹ๅบฆใซไนฑใ‚Œใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใฎ็‰นๅพดใ‹ใ‚‰ใ‚ฟใ‚คใƒ—ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณชใฎใฉใ“ใซใงใ‚‚็”Ÿใ˜ใ†ใ‚‹ใ€‚"@ja ; - terms:identifier "1200564" ; - terms:source ; - a owl:Class ; - rdfs:label "Focal cortical dysplasia"@en, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "137" ; + dcterms:description "ๅคง่„ณ็šฎ่ณชใซใŠใ‘ใ‚‹ๅฑ€ๆ‰€็š„ใช็™บ็”Ÿ็•ฐๅธธ๏ผˆ็ฅž็ตŒ็ดฐ่ƒžใฎ็™บ็”Ÿใ€ๅข—ๆฎ–ๅŠใณ้Š่ตฐใฎ้šœๅฎณ๏ผ‰ใซ้–ข้€ฃใ—ใŸ็—…ๅทฃใซใ‚ˆใ‚Šใ€ไธปใจใ—ใฆใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธปใซไนณๅนผๅ…๏ฝžๅญฆ็ซฅๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€ไธญๅญฆ็”Ÿไปฅ้™ใ‚ใ‚‹ใ„ใฏๆˆไบบใงใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚MRIใซใ‚ˆใ‚Š้™ๅฑ€ๆ€งใฎ็šฎ่ณชใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็•ฐๅธธๆ‰€่ฆ‹ใงๆคœๅ‡บใ•ใ‚Œใ‚‹ไธ€ๆ–นใ€MRI็•ฐๅธธใ‚’ๆฌ ใ็—…็†่จบๆ–ญใงๆ˜Žใ‚‰ใ‹ใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณช็ฅž็ตŒ็ดฐ่ƒžใฎ้…ๅˆ—ใŒๆง˜ใ€…ใช็จ‹ๅบฆใซไนฑใ‚Œใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใฎ็‰นๅพดใ‹ใ‚‰ใ‚ฟใ‚คใƒ—ๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅคง่„ณ็šฎ่ณชใฎใฉใ“ใซใงใ‚‚็”Ÿใ˜ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200564" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD"@en, "FCD"@ja ; + skos:closeMatch obo:MONDO_0019009 ; skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆ"@ja . -:1200565 - :hasNotificationNumber "137" ; - terms:identifier "1200565" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—1a"@ja, "Focal cortical dysplasia type 1a"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—1a"@ja . - -:1200566 - :hasNotificationNumber "137" ; - terms:identifier "1200566" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—1b"@ja, "Focal cortical dysplasia type 1b"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—1b"@ja . - -:1200567 - :hasNotificationNumber "137" ; - terms:identifier "1200567" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—1c"@ja, "Focal cortical dysplasia type 1c"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—1c"@ja . - -:1200568 - :hasNotificationNumber "137" ; - terms:identifier "1200568" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—2a"@ja, "Focal cortical dysplasia type 2a"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011818 ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—2a"@ja . - -:1200569 - :hasNotificationNumber "137" ; - terms:identifier "1200569" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—2b"@ja, "Focal cortical dysplasia type 2b"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011818 ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—2b"@ja . - -:1200570 - :hasNotificationNumber "137" ; - terms:identifier "1200570" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—3a"@ja, "Focal cortical dysplasia type 3a"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—3a"@ja . - -:1200571 - :hasNotificationNumber "137" ; - terms:identifier "1200571" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—3b"@ja, "Focal cortical dysplasia type 3b"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—3b"@ja . - -:1200572 - :hasNotificationNumber "137" ; - terms:identifier "1200572" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—3c"@ja, "Focal cortical dysplasia type 3c"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—3c"@ja . - -:1200573 - :hasNotificationNumber "137" ; - terms:identifier "1200573" ; - terms:source ; - a owl:Class ; - rdfs:label "FCD ใ‚ฟใ‚คใƒ—3d"@ja, "Focal cortical dysplasia type 3d"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "FCD ใ‚ฟใ‚คใƒ—3d"@ja . - -:1200574 - :hasNotificationNumber "138" ; - terms:description "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•๏ผˆๅพŒ๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผˆ็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใจ่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผ‰ใ€ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆใ€่ฃ‚่„ณ็—‡ใ€ๅญ”่„ณ็—‡ใ‚’ๅซใ‚€ใ€‚"@ja ; - terms:identifier "1200574" ; - terms:source ; - a owl:Class ; - rdfs:label "Neuronal Migration Defects"@en, "็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Lissencephaly"@en, "Nerve cell migration disorders"@en ; - skos:closeMatch mondo:MONDO_0018838 ; + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200565" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 1a"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใˆใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1a"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 1a"@en, "FCD ใ‚ฟใ‚คใƒ—1a"@ja, "Focal cortical dysplasia type Ia"@en ; + skos:closeMatch obo:MONDO_0017096 ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1a"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200566" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 1b"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใณใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1b"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 1b"@en, "FCD ใ‚ฟใ‚คใƒ—1b"@ja, "Focal cortical dysplasia type Ib"@en ; + skos:closeMatch obo:MONDO_0017097 ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1b"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200567" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 1c"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท1ใ—ใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1c"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 1c"@en, "FCD ใ‚ฟใ‚คใƒ—1c"@ja, "Focal cortical dysplasia type Ic"@en ; + skos:closeMatch obo:MONDO_0017098 ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—1c"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200568" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 2a"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท2ใˆใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2a"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 2a"@en, "FCD ใ‚ฟใ‚คใƒ—2a"@ja, "Focal cortical dysplasia type IIa"@en ; + skos:closeMatch obo:MONDO_0017101 ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2a"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200569" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 2b"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท2ใณใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2b"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 2b"@en, "FCD ใ‚ฟใ‚คใƒ—2b"@ja, "Focal cortical dysplasia type IIb"@en ; + skos:closeMatch obo:MONDO_0017102 ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—2b"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200570" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 3a"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใˆใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3a"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 3a"@en, "FCD ใ‚ฟใ‚คใƒ—3a"@ja, "Focal cortical dysplasia type IIIa"@en ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3a"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200571" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 3b"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใณใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3b"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 3b"@en, "FCD ใ‚ฟใ‚คใƒ—3b"@ja, "Focal cortical dysplasia type IIIb"@en ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3b"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200572" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 3c"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใ—ใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3c"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD Type 3c"@en, "FCD ใ‚ฟใ‚คใƒ—3c"@ja, "Focal cortical dysplasia type IIIc"@en ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3c"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:1200573" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Focal cortical dysplasia type 3d"@en, "ใ’ใ‚“ใใ‚‡ใใ›ใ„ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„ใŸใ„ใท3ใงใƒใƒผ"@ja-Hira, "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3d"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCD type 3d"@en, "FCD ใ‚ฟใ‚คใƒ—3d"@ja, "Focal cortical dysplasia type IIId"@en ; + skos:prefLabel "้™ๅฑ€ๆ€ง็šฎ่ณช็•ฐๅฝขๆˆใ‚ฟใ‚คใƒ—3d"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:description "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•๏ผˆๅพŒ๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผˆ็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใจ่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช๏ผ‰ใ€ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆใ€่ฃ‚่„ณ็—‡ใ€ๅญ”่„ณ็—‡ใ‚’ๅซใ‚€ใ€‚"@ja ; + dcterms:identifier "NANDO:1200574" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neuronal migration defects"@en, "ใ—ใ‚“ใ‘ใ„ใ•ใ„ใผใ†ใ„ใฉใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Lissencephaly"@en, "Miller-Dieker syndrom"@en, "Nerve cell migration disorders"@en ; + skos:closeMatch obo:MONDO_0018838 ; skos:prefLabel "็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡"@ja . -:1200575 - :hasNotificationNumber "139" ; - terms:description "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - terms:identifier "1200575" ; + + nando:hasNotificationNumber "139" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + dcterms:identifier "NANDO:1200575" ; a owl:Class ; - rdfs:label "Congenital Cerebral Hypomyelination"@en, "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Congenital hypomyelinating leukodystrophy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Congenital cerebral white matter aplasia"@en ; + skos:closeMatch obo:MONDO_0019046 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja . -:1200576 - :hasNotificationNumber "139" ; - terms:identifier "1200576" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200576" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pelizaeus-Merzbacher disease"@en, "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010714 ; + rdfs:label "Pelizaeus-Merzbacher disease"@en, "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใณใ‚‡ใ†"@ja-Hira, "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PMD"@en, "PMD"@ja, "Pelizaeus-Merzbacher็—…"@ja ; + skos:closeMatch obo:MONDO_0010714 ; skos:prefLabel "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…"@ja . -:1200577 - :hasNotificationNumber "139" ; - terms:identifier "1200577" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200577" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pelizaeus-Merzbacher like disease"@en, "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017226 ; + rdfs:label "Pelizaeus-Merzbacher like disease"@en, "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใ‚ˆใ†ใณใ‚‡ใ†1"@ja-Hira, "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PMLD1"@en, "Pelizaeus-Merzbacher like disease 1"@en, "Pelizaeus-Merzbacherๆง˜็—…๏ผ‘"@ja ; + skos:closeMatch obo:MONDO_0017226 ; skos:prefLabel "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘"@ja . -:1200578 - :hasNotificationNumber "139" ; - terms:identifier "1200578" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200578" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypomyelination with atrophy of the basal ganglia and cerebellum"@en, "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Hypomyelination with atrophy of the basal ganglia and cerebellum"@en, "ใใฆใ„ใ‹ใใŠใ‚ˆใณใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HABC"@en ; + skos:closeMatch obo:MONDO_0012905 ; skos:prefLabel "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja . -:1200579 - :hasNotificationNumber "139" ; - terms:identifier "1200579" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200579" ; + dcterms:source ; a owl:Class ; - rdfs:label "18q-syndrome"@en, "18qๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011147 ; + rdfs:label "18q-syndrome"@en, "18qๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "18ใใ‚…ใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011147 ; skos:prefLabel "18qๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . -:1200580 - :hasNotificationNumber "139" ; - terms:identifier "1200580" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200580" ; + dcterms:source ; a owl:Class ; - rdfs:label "Allan-Herndon-Dudley syndrome"@en, "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010354 ; + rdfs:label "Allan-Herndon-Dudley syndrome"@en, "ใ‚ใ‚‰ใ‚“ใƒปใฏใƒผใ‚“ใฉใ‚“ใƒปใŸใฉใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AHDS"@en, "Allan-Herndon-Dudley็—‡ๅ€™็พค"@ja, "MCT8ๆฌ ๆ็—‡"@ja, "Monocarboxylate transporter 8 deficiency"@en ; + skos:closeMatch obo:MONDO_0010354 ; skos:prefLabel "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใ‚ฟใƒ‰ใƒชใƒผ็—‡ๅ€™็พค"@ja . -:1200581 - :hasNotificationNumber "139" ; - terms:identifier "1200581" ; - terms:source ; - a owl:Class ; - rdfs:label "HSP60 chaperon็—…"@ja, "Mitochondrial Hsp60 chaperonopathy"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012824 ; - skos:prefLabel "HSP60 chaperon็—…"@ja . - -:1200582 - :hasNotificationNumber "139" ; - terms:identifier "1200582" ; - terms:source ; - a owl:Class ; - rdfs:label "Salla disease"@en, "ใ‚ตใƒฉ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011449 ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200581" ; + dcterms:source ; + a owl:Class ; + rdfs:label "HSP60ใ‚ทใƒฃใƒšใƒญใƒณ็—…"@ja, "Mitochondrial Hsp60 chaperonopathy"@en, "ใˆใ„ใกใˆใ™ใดใƒผ60ใ—ใ‚ƒใบใ‚ใ‚“ใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HSP60 chaperon็—…"@ja ; + skos:closeMatch obo:MONDO_0012824 ; + skos:prefLabel "HSP60ใ‚ทใƒฃใƒšใƒญใƒณ็—…"@ja . + + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200582" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Salla disease"@en, "ใ•ใ‚‰ใณใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒฉ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "SD"@en, "Salla็—…"@ja, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡๏ผˆ่ปฝ็—‡ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0011449 ; skos:prefLabel "ใ‚ตใƒฉ็—…"@ja . -:1200583 - :hasNotificationNumber "139" ; - terms:identifier "1200583" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200583" ; + dcterms:source ; a owl:Class ; - rdfs:label "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum"@en, "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum"@en, "ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใจใฎใ†ใ‚Šใ‚‡ใ†ใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใณใพใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "๏ผจ๏ผฃ๏ผก๏ผจ๏ผฃ"@en ; + skos:closeMatch obo:MONDO_0018655 ; skos:prefLabel "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja . -:1200584 - :hasNotificationNumber "139" ; - terms:identifier "1200584" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200584" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypomyelination and congenital cataract"@en, "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012514 ; + rdfs:label "Hypomyelination and congenital cataract"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใชใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HCC"@en ; + skos:closeMatch obo:MONDO_0012514 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja . -:1200585 - :hasNotificationNumber "139" ; - terms:identifier "1200585" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200585" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ataxia, delayed dentition, and hypomyelination"@en, "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011897 ; + rdfs:label "Ataxia, delayed dentition, and hypomyelination syndrome"@en, "ใ—ใฃใกใ‚‡ใ†ใ€ใ—ใŒใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ADDH"@en ; + skos:closeMatch obo:MONDO_0011897 ; skos:prefLabel "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja . -:1200586 - :hasNotificationNumber "139" ; - terms:identifier "1200586" ; - terms:source ; + + nando:hasNotificationNumber "139" ; + dcterms:identifier "NANDO:1200586" ; + dcterms:source ; a owl:Class ; - rdfs:label "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease"@en, "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "PCWH"@en ; - skos:closeMatch mondo:MONDO_0012198 ; + rdfs:label "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease"@en, "ใ ใคใšใ„ใŒใŸใพใฃใ—ใ‚‡ใ†ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ€ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ€ใ‚ใƒผใงใ‚“ใฐใƒผใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ€ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PCWH"@en, "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€Waardenburg็—‡ๅ€™็พคใ€Hirschsprung็—…"@ja ; + skos:closeMatch obo:MONDO_0012198 ; skos:prefLabel "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:1200587 - :hasNotificationNumber "140" ; - terms:description "๏ผ‘ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใ€ๅ…จ่บซๅผท็›ด้–“ไปฃ็™บไฝœใ‚„ๅŠ่บซๆ€ง้–“ไปฃ็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€็™บ็†ฑ่ช˜็™บใ‘ใ„ใ‚Œใ‚“ใ€ใ‘ใ„ใ‚Œใ‚“้‡็ฉใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€่–ฌ็‰ฉๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใ€ใจใ„ใ†็‰นๅพดใ‚’ใ‚‚ใคใ€‚๏ผ‘ๆญณใ‚’้ŽใŽใ‚‹ใจ็™บ้”้…ๆปžใ‚„้‹ๅ‹•ๅคฑ่ชฟใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„ๆฌ ็ฅž็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅŽŸๅ› ใจใ—ใฆSCN1A้บไผๅญใฎ็•ฐๅธธใ‚’้ซ˜็Ž‡ใซ่ชใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฎ๏ผ‘ใคใ€‚"@ja ; - terms:identifier "1200587" ; - terms:source ; + + nando:hasNotificationNumber "140" ; + dcterms:description "๏ผ‘ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใ€ๅ…จ่บซๅผท็›ด้–“ไปฃ็™บไฝœใ‚„ๅŠ่บซๆ€ง้–“ไปฃ็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€็™บ็†ฑ่ช˜็™บใ‘ใ„ใ‚Œใ‚“ใ€ใ‘ใ„ใ‚Œใ‚“้‡็ฉใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€่–ฌ็‰ฉๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใ€ใจใ„ใ†็‰นๅพดใ‚’ใ‚‚ใคใ€‚๏ผ‘ๆญณใ‚’้ŽใŽใ‚‹ใจ็™บ้”้…ๆปžใ‚„้‹ๅ‹•ๅคฑ่ชฟใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„ๆฌ ็ฅž็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅŽŸๅ› ใจใ—ใฆSCN1A้บไผๅญใฎ็•ฐๅธธใ‚’้ซ˜็Ž‡ใซ่ชใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฎ๏ผ‘ใคใ€‚"@ja ; + dcterms:identifier "NANDO:1200587" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dravet syndrome"@en, "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Dravet syndrome"@en, "ใฉใ‚‰ในใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Dorabe syndrome"@en ; - skos:closeMatch mondo:MONDO_0011794 ; + skos:closeMatch obo:MONDO_0100135 ; skos:prefLabel "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค"@ja . -:1200588 - :hasNotificationNumber "141" ; - terms:description "ใฆใ‚“ใ‹ใ‚“ๅŽŸๆ€ง็„ฆ็‚นใ‚’ๅด้ ญ่‘‰ใฎๅ†…ๅดใซๆœ‰ใ™ใ‚‹้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใงใ€ใ‹ใค็—…็†ๅญฆ็š„ใซๆตท้ฆฌ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ€‚ๆŽจๅฎš็—…ๅ› ใ€่‡จๅบŠ็ตŒ้Žใ€็™บไฝœ็—‡็Šถใ€่„ณๆณขๆ‰€่ฆ‹ใ€็”ปๅƒๆ‰€่ฆ‹ใชใฉใŒใŠใŠใ‚€ใญๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ€‚ไธŠ่…น้ƒจไธๅฟซๆ„Ÿใชใฉใฎๅ‰ๅ…†ใ€ๅผท็›ดใ‚„่‡ชๅ‹•็—‡ใ‚’ไผดใ†่ค‡้›‘้ƒจๅˆ†็™บไฝœใ‚’่ชใ‚ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใซๆฅตใ‚ใฆๆŠตๆŠ—ใ™ใ‚‹ใŒใ€ไธ€ๅดใฎๆตท้ฆฌ็กฌๅŒ–็—‡ใฎๅ ดๅˆใฏๅค–็ง‘็š„ๆฒป็™‚ใฎๆˆ็ธพใฏใ‚ˆใ„ใ€‚"@ja ; - terms:identifier "1200588" ; - terms:source ; + + nando:hasNotificationNumber "141" ; + dcterms:description "ใฆใ‚“ใ‹ใ‚“ๅŽŸๆ€ง็„ฆ็‚นใ‚’ๅด้ ญ่‘‰ใฎๅ†…ๅดใซๆœ‰ใ™ใ‚‹้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใงใ€ใ‹ใค็—…็†ๅญฆ็š„ใซๆตท้ฆฌ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ€‚ๆŽจๅฎš็—…ๅ› ใ€่‡จๅบŠ็ตŒ้Žใ€็™บไฝœ็—‡็Šถใ€่„ณๆณขๆ‰€่ฆ‹ใ€็”ปๅƒๆ‰€่ฆ‹ใชใฉใŒใŠใŠใ‚€ใญๅ…ฑ้€šใ—ใฆใ„ใ‚‹ใ€‚ไธŠ่…น้ƒจไธๅฟซๆ„Ÿใชใฉใฎๅ‰ๅ…†ใ€ๅผท็›ดใ‚„่‡ชๅ‹•็—‡ใ‚’ไผดใ†่ค‡้›‘้ƒจๅˆ†็™บไฝœใ‚’่ชใ‚ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใซๆฅตใ‚ใฆๆŠตๆŠ—ใ™ใ‚‹ใŒใ€ไธ€ๅดใฎๆตท้ฆฌ็กฌๅŒ–็—‡ใฎๅ ดๅˆใฏๅค–็ง‘็š„ๆฒป็™‚ใฎๆˆ็ธพใฏใ‚ˆใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200588" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mesial Temporal Lobe Epilepsy with Bilateral Hippocampal Sclerosis"@en, "ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis"@en, "ใ‹ใ„ใฐใ“ใ†ใ‹ใ‚’ใจใ‚‚ใชใ†ใชใ„ใใใใใจใ†ใ‚ˆใ†ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Mesial temporal lobe epilepsy with hippocampal sclerosis"@en ; - skos:closeMatch mondo:MONDO_0020476 ; + skos:closeMatch obo:MONDO_0020476 ; skos:prefLabel "ๆตท้ฆฌ็กฌๅŒ–ใ‚’ไผดใ†ๅ†…ๅดๅด้ ญ่‘‰ใฆใ‚“ใ‹ใ‚“"@ja . -:1200589 - :hasNotificationNumber "142" ; - terms:description "ไธป็—‡็ŠถใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅž็™บไฝœ๏ผˆๆ„่ญ˜ใฏๆ›‡ใ‚Šใ€ไธกไธŠ่‚ขใ‚’ไธญๅฟƒใจใ™ใ‚‹ๅ››่‚ขใฎๅพ‹ๅ‹•็š„ใชใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆ€งๆ”ฃ็ธฎใจๅผท็›ดๆ€งๅŽ็ธฎใ‚’็‰นๅพดใจใ™ใ‚‹็‰น็•ฐใช็™บไฝœๅž‹๏ผ‰ใงใ‚ใ‚Šใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ‚‚่ชใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ—ๆญณ๏ผˆ11ใ‹ๆœˆ๏ฝž12ๆญณ๏ผ–ใ‹ๆœˆ๏ผ‰ใงใ€็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200589" ; - terms:source ; - a owl:Class ; - rdfs:label "Myoclonic absence epilepsy"@en, "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "142" ; + dcterms:description "ไธป็—‡็ŠถใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅž็™บไฝœ๏ผˆๆ„่ญ˜ใฏๆ›‡ใ‚Šใ€ไธกไธŠ่‚ขใ‚’ไธญๅฟƒใจใ™ใ‚‹ๅ››่‚ขใฎๅพ‹ๅ‹•็š„ใชใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆ€งๆ”ฃ็ธฎใจๅผท็›ดๆ€งๅŽ็ธฎใ‚’็‰นๅพดใจใ™ใ‚‹็‰น็•ฐใช็™บไฝœๅž‹๏ผ‰ใงใ‚ใ‚Šใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ‚‚่ชใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ—ๆญณ๏ผˆ11ใ‹ๆœˆ๏ฝž12ๆญณ๏ผ–ใ‹ๆœˆ๏ผ‰ใงใ€็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200589" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Myoclonic absence epilepsy"@en, "ใฟใŠใใ‚ใซใƒผใ‘ใฃใ—ใ‚“ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EMA"@en, "Epilepsy with myoclonic absence"@en ; + skos:closeMatch obo:MONDO_0019487 ; skos:prefLabel "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผๆฌ ็ฅžใฆใ‚“ใ‹ใ‚“"@ja . -:1200590 - :hasNotificationNumber "143" ; - terms:description "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅฐๅž‹้‹ๅ‹•็™บไฝœ๏ผˆใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ€ๅคฑ็ซ‹็™บไฝœใ€่„ฑๅŠ›็™บไฝœใชใฉ๏ผ‰ใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“็พคใฏใ€ใใฎ็‰น็•ฐใช็™บไฝœๅž‹ใ‚„ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงไธ–็•Œ็š„ใซๆ—ฉใใ‹ใ‚‰ๆณจ็›ฎใ•ใ‚ŒใฆใใŸใ€‚ไธญใงใ‚‚๏ผ‘ๆญณไปฅไธŠใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใ—ใฆใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผšLGS๏ผ‰ใŒใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณขใจๅผท็›ด็™บไฝœใ€้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใชใฉใฎๅคšๅฝฉใช็™บไฝœๅž‹ใ‚’ๆŒใค็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒใ€Dooseใ‚‰ใฏๆญฃๅธธ็™บ้”ๅนผๅ…ใงใ€้บไผๆ€ง็ด ๅ› ใ‚’่ƒŒๆ™ฏใจใ—ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไธปๅพดใจใ™ใ‚‹ใ€ŒใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ใ€ใ‚’ๆๅ”ฑใ—ใŸใ€‚ๆฝœๅ› ๆ€งLGSใ€ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใ‚„ไนณๅ…่‰ฏๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจใฎ็•ฐๅŒใŒๅ•้กŒใจใชใฃใŸๆ™‚ๆœŸใ‚‚ใ‚ใ‚‹ใŒใ€1989ๅนดๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใ‚ˆใ‚Š็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ่ช็Ÿฅใ•ใ‚ŒใŸใ€‚"@ja ; - terms:identifier "1200590" ; - terms:source ; + + nando:hasNotificationNumber "143" ; + dcterms:description "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅฐๅž‹้‹ๅ‹•็™บไฝœ๏ผˆใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ€ๅคฑ็ซ‹็™บไฝœใ€่„ฑๅŠ›็™บไฝœใชใฉ๏ผ‰ใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“็พคใฏใ€ใใฎ็‰น็•ฐใช็™บไฝœๅž‹ใ‚„ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงไธ–็•Œ็š„ใซๆ—ฉใใ‹ใ‚‰ๆณจ็›ฎใ•ใ‚ŒใฆใใŸใ€‚ไธญใงใ‚‚๏ผ‘ๆญณไปฅไธŠใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจใ—ใฆใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผšLGS๏ผ‰ใŒใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณขใจๅผท็›ด็™บไฝœใ€้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใชใฉใฎๅคšๅฝฉใช็™บไฝœๅž‹ใ‚’ๆŒใค็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใŒใ€ใใฎๅพŒใ€Dooseใ‚‰ใฏๆญฃๅธธ็™บ้”ๅนผๅ…ใงใ€้บไผๆ€ง็ด ๅ› ใ‚’่ƒŒๆ™ฏใจใ—ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไธปๅพดใจใ™ใ‚‹ใ€ŒใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“ใ€ใ‚’ๆๅ”ฑใ—ใŸใ€‚ๆฝœๅ› ๆ€งLGSใ€ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใ‚„ไนณๅ…่‰ฏๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจใฎ็•ฐๅŒใŒๅ•้กŒใจใชใฃใŸๆ™‚ๆœŸใ‚‚ใ‚ใ‚‹ใŒใ€1989ๅนดๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใ‚ˆใ‚Š็‹ฌ็ซ‹ใ—ใŸใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใจใ—ใฆ่ช็Ÿฅใ•ใ‚ŒใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200590" ; + dcterms:source ; a owl:Class ; - rdfs:label "Epilepsy with Myoclonic Atonic Seizures"@en, "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Epilepsy with myoclonic atonic seizures"@en, "ใฟใŠใใ‚ใซใƒผใ ใคใ‚Šใ‚‡ใใปใฃใ•ใ‚’ใจใ‚‚ใชใ†ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Epilepsy with myoclonic cataplexy"@en ; - skos:closeMatch mondo:MONDO_0016025 ; + skos:closeMatch obo:MONDO_0016025 ; skos:prefLabel "ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†ใฆใ‚“ใ‹ใ‚“"@ja . -:1200591 - :hasNotificationNumber "144" ; - terms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200591" ; - terms:source ; + + nando:hasNotificationNumber "144" ; + dcterms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200591" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lennox-Gastaut syndrome"@en, "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016532 ; + rdfs:label "Lennox-Gastaut syndrome"@en, "ใ‚Œใฎใฃใใ™ใƒปใŒใ™ใจใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Lennox-Gastaut็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0016532 ; skos:prefLabel "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค"@ja . -:1200592 - :hasNotificationNumber "145" ; - terms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200592" ; - terms:source ; - a owl:Class ; - rdfs:label "West syndrome"@en, "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Infantile spasms"@en ; - skos:closeMatch mondo:MONDO_0018097 ; + + nando:hasNotificationNumber "145" ; + dcterms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200592" ; + dcterms:source ; + a owl:Class ; + rdfs:label "West syndrome"@en, "ใ†ใˆใ™ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Infantile spasms"@en, "West็—‡ๅ€™็พค"@ja, "็‚น้ ญใฆใ‚“ใ‹ใ‚“"@ja ; + skos:closeMatch obo:MONDO_0018097 ; skos:prefLabel "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค"@ja . -:1200593 - :hasNotificationNumber "146" ; - terms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200593" ; - terms:source ; - a owl:Class ; - rdfs:label "Ohtahara syndrome"@en, "ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Early infantile epileptic encephalopathy with suppression burst"@en ; - skos:closeMatch mondo:MONDO_0016021 ; + + nando:hasNotificationNumber "146" ; + dcterms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200593" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ohtahara syndrome"@en, "ใŠใŠใŸใฏใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Early infantile epileptic encephalopathy with suppression burst"@en, "ๆ—ฉๆœŸไนณๅ…ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡"@ja ; + skos:closeMatch obo:MONDO_0100062 ; skos:prefLabel "ๅคง็”ฐๅŽŸ็—‡ๅ€™็พค"@ja . -:1200594 - :hasNotificationNumber "147" ; - terms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200594" ; - terms:source ; - a owl:Class ; - rdfs:label "Early myoclonic encephalopathy"@en, "ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016022 ; + + nando:hasNotificationNumber "147" ; + dcterms:description "็”ŸๅพŒ1ใƒถๆœˆไปฅๅ†…๏ผˆใพใ‚Œใซ3ใƒถๆœˆไปฅๅ†…๏ผ‰ใซ็™บ็—‡ใ™ใ‚‹้‡ใ„ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡๏ผˆใฆใ‚“ใ‹ใ‚“ใฎใŸใ‚็Ÿฅ่ƒฝ้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใŒ่ตทใ‚‹็Šถๆ…‹๏ผ‰ใงใ€ใพใถใŸใ€้ก”ใ€ๆ‰‹่ถณใชใฉใฎไธ่ฆๅ‰‡ใง้ƒจๅˆ†็š„ใชใ€ใฐใ‚‰ใฐใ‚‰ใฎใƒ”ใ‚ฏใƒ”ใ‚ฏใ—ใŸๅ‹•ใ๏ผˆerratic myoclonus๏ผšไธ่ฆๅ‰‡ใช ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น ๏ผ‰ใงใฏใ˜ใพใ‚Šใ€่‡ชๅ‹•็—‡๏ผˆใ‚ใกใ“ใกใŒๅ‹ๆ‰‹ใซๅ‹•ใ๏ผ‰ใ€ๅ‘ผๅธใ‚’ๆญขใ‚ใ‚‹ใ€้ก”ใŒ่ตคใใชใ‚‹ใ“ใจใชใฉใ‚’ไผดใ†ใ„ใ‚ใ„ใ‚ใช้ƒจๅˆ†็™บไฝœใŒ็พใ‚Œใพใ™ใ€‚ๆ™‚ใซๅ…จ่บซใ‚’ใƒ”ใ‚ฏใƒ”ใ‚ฏใ•ใ›ใ‚‹ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅพŒใซใฏไฝ“ใ‚’ๅ›บใ็ชใฃๅผตใ‚‹ๅผท็›ด็™บไฝœใ€ไธ€็žฌใณใใ‚“ใจๅ‹•ใ็™บไฝœ๏ผˆใ‚นใƒ‘ใ‚บใƒ ๏ผ‰ใ‚‚ใพใ‚Œใซใ‚ใ‚Šใพใ™ใ€‚่„ณๆณขใŒ็‰นๅพด็š„ใงใ‚ใ‚Šใ€ๅ…จไฝ“็š„ใช็™บไฝœๆณขใจใปใจใ‚“ใฉๅนณใ‚‰ใซใชใ‚‹ใ“ใจใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚ตใƒ—ใƒฌใƒƒใ‚ทใƒงใƒณใƒปใƒใƒผใ‚นใƒˆใจใ„ใ†ๅฝขใ‚’็คบใ—ใ€็ก็œ ๆ™‚ใซใ‚ˆใ‚Šใฏใฃใใ‚Šใ—ใพใ™ใ€‚็™บไฝœใฏๆฅตใ‚ใฆ้ ป็™บใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌใ‚„ACTH็™‚ๆณ•ใ€ใ‚ฑใƒˆใƒณ้ฃŸใงใฏๆญขใพใ‚‰ใšใ€ใฆใ‚“ใ‹ใ‚“ๅค–็ง‘ๆ‰‹่ก“ใซใ‚‚ๅฝ“ใฆใฏใพใ‚Šใพใ›ใ‚“ใ€‚็™บไฝœใฎ็ตŒ้Žใ€็™บ้”ใฎ็ตŒ้Žใจใ‚‚ใซๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚Šใ€ๅŠๆ•ฐใฏ1ๆญณไปฅๅ†…ใซๆญปไบกใ—ใ€ๆฎ‹ใ‚Šใ‚‚ๅ…จใฆๅฏใŸใใ‚Šใซใชใ‚‹ใจใ„ใ†ใ€้žๅธธใซๅŽณใ—ใ„็—…ๆฐ—ใงใ™ใ€‚ๅŽŸๅ› ใจใ—ใฆใ€ๆฌง็ฑณใงใฏใ€็”Ÿใพใ‚Œใคใไฝ“ใฎไธญใงๅฟ…่ฆใชใ‚‚ใฎใŒไฝœใ‚‰ใ‚Œใชใ„ ๅ…ˆๅคฉๆ€ง ไปฃ่ฌ็•ฐๅธธ็—‡ใŒๅคšใ„ใจใ•ใ‚Œใฆใ„ใพใ™ใŒใ€ใ‚ใŒๅ›ฝใงใฏ่„ณใฎๅฝขๆ…‹็•ฐๅธธใŒๅฐ‘ใชใใ‚ใ‚Šใพใ›ใ‚“ใ€‚ใ„ใใคใ‹ใฎ้บไผๅญใฎ็•ฐๅธธใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใพใ™ใŒใ€ๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œไธ–็•Œใงใ‚‚๏ผ‘๏ฝž3ไบบใฎใฟใงใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1200594" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Early myoclonic encephalopathy"@en, "ใใ†ใใฟใŠใใ‚ใซใƒผใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EME"@ja ; + skos:closeMatch obo:MONDO_0016022 ; skos:prefLabel "ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡"@ja . -:1200595 - :hasNotificationNumber "148" ; - terms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200595" ; - terms:source ; - a owl:Class ; - rdfs:label "Epilepsy of infancy with migrating focal seizures"@en, "้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Infant epilepsy with migratory focus seizure"@en, "Migrating partial seizures in infancy"@en ; - skos:closeMatch mondo:MONDO_0017385, mondo:MONDO_0100025 ; + + nando:hasNotificationNumber "148" ; + dcterms:description "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค๏ผˆLennox-Gastaut็—‡ๅ€™็พค๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€โ‘ ๅผท็›ด็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่„ฑๅŠ›็™บไฝœใ‚’ไธญๅฟƒใจใ—ใŸๅคšๅฝฉใชใฆใ‚“ใ‹ใ‚“็™บไฝœใŒๅ‡บ็พใ€โ‘ก็ก็œ ๆ™‚ใฎ้€Ÿๅพ‹ๅ‹•ใ€ๅ…จ่ˆฌๆ€ง้…ๆฃ˜ๅพๆณข่ค‡ๅˆใจใ„ใฃใŸ็‰นๅพด็š„ใช่„ณๆณขๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€โ‘ข็Ÿฅ็š„้šœๅฎณใ‚„ๅคฑ่ชฟ็—‡็Šถใ€็ก็œ ้šœๅฎณใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚้–ข้€ฃใ™ใ‚‹่„ณ็—‡ใซใฏใ€ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พคใ€ๅคง็”ฐๅŽŸ็—‡ๅ€™็พคใ€ๆ—ฉๆœŸใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ่„ณ็—‡ใ€้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“ใชใฉใŒใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฏๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžๅนผๅ…ๆœŸใฎๅนด้ฝขไพๅญ˜ๆ€งใงใ€ใฎใกใซใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พคใซ็งป่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไป–ใฎๅ…จ่ˆฌใƒป้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200595" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Epilepsy of infancy with migrating focal seizures"@en, "ใ‚†ใ†ใใ†ใ›ใ„ใ—ใ‚‡ใ†ใฆใ‚“ใปใฃใ•ใ‚’ใจใ‚‚ใชใ†ใซใ‚…ใ†ใ˜ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EIMFS"@en, "Infant epilepsy with migratory focus seizure"@en, "Migrating partial seizures in infancy"@en ; + skos:closeMatch obo:MONDO_0017385, obo:MONDO_0100025 ; skos:prefLabel "้Š่ตฐๆ€ง็„ฆ็‚น็™บไฝœใ‚’ไผดใ†ไนณๅ…ใฆใ‚“ใ‹ใ‚“"@ja . -:1200596 - :hasNotificationNumber "149" ; - terms:description "็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๅคšใใฏ็‰‡ๅดๆ€ง๏ผ‰ใซๅผ•ใ็ถšใใ€ไธ€้Žๆ€งใพใŸใฏๆ’ไน…็š„ใช็‰‡้บป็—บใ‚’ๆฎ‹ใ™็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใŸ็—‡ไพ‹ใซใŠใ„ใฆใ€ๅพŒใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใฏ๏ผ”ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹้ž็‰น็•ฐ็š„็†ฑๆ€ง็–พๆ‚ฃใซไผดใ†ใ“ใจใŒๅคšใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎ็™บ็—‡ใฏใ€็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พค็™บ็—‡ใ‹ใ‚‰ใŠใ‚ˆใ๏ผ”ๅนดไปฅๅ†…ใŒๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅˆไฝต็—‡ใจใ—ใฆใ€็‰‡้บป็—บใฎไป–ใซ็Ÿฅ็š„้šœๅฎณใ€็ฒพ็ฅž่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200596" ; - terms:source ; - a owl:Class ; - rdfs:label "Hemiconvulsion-Hemiplegia-Epilepsy Syndrome"@en, "็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "One side convulsions, hemiplegia - epilepsy syndrome"@en ; - skos:closeMatch mondo:MONDO_0019485 ; + + nando:hasNotificationNumber "149" ; + dcterms:description "็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๅคšใใฏ็‰‡ๅดๆ€ง๏ผ‰ใซๅผ•ใ็ถšใใ€ไธ€้Žๆ€งใพใŸใฏๆ’ไน…็š„ใช็‰‡้บป็—บใ‚’ๆฎ‹ใ™็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใŸ็—‡ไพ‹ใซใŠใ„ใฆใ€ๅพŒใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใฏ๏ผ”ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹้ž็‰น็•ฐ็š„็†ฑๆ€ง็–พๆ‚ฃใซไผดใ†ใ“ใจใŒๅคšใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎ็™บ็—‡ใฏใ€็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บ็—‡ๅ€™็พค็™บ็—‡ใ‹ใ‚‰ใŠใ‚ˆใ๏ผ”ๅนดไปฅๅ†…ใŒๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅˆไฝต็—‡ใจใ—ใฆใ€็‰‡้บป็—บใฎไป–ใซ็Ÿฅ็š„้šœๅฎณใ€็ฒพ็ฅž่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200596" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hemiconvulsion-hemiplegia-epilepsy syndrome"@en, "ใธใ‚“ใใใ‘ใ„ใ‚Œใ‚“ใƒปใ‹ใŸใพใฒใƒปใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HHE"@en, "One side convulsions, hemiplegia epilepsy syndrome"@en ; + skos:closeMatch obo:MONDO_0019485 ; skos:prefLabel "็‰‡ๅด็—™ๆ”ฃใƒป็‰‡้บป็—บใƒปใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค"@ja . -:1200597 - :hasNotificationNumber "150" ; - terms:description "ไธป็—‡็Šถใฏใ€้›ฃๆฒปใช้ž็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๆ„่ญ˜ใŒๆ›‡ใ‚Šใ€้ฉๅˆ‡ใช่กŒๅ‹•ใŒใงใใชใ„ใ€‚๏ผ‰ใงใ‚ใ‚Šใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅฐๅž‹ๅˆใฏๅคงๅž‹ใฎ้‹ๅ‹•็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใ€้žๅฏพ็งฐๆ€งใฎๅผท็›ด็™บไฝœใ€้Ž้‹ๅ‹•็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ–ๆญณ๏ผˆ๏ผ๏ฝž24ๆญณ๏ผ‰ใ€‚็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ใ•ใพใ–ใพใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200597" ; - terms:source ; + + nando:hasNotificationNumber "150" ; + dcterms:description "ไธป็—‡็Šถใฏใ€้›ฃๆฒปใช้ž็—™ๆ”ฃๆ€งใฆใ‚“ใ‹ใ‚“้‡็ฉ็Šถๆ…‹๏ผˆๆ„่ญ˜ใŒๆ›‡ใ‚Šใ€้ฉๅˆ‡ใช่กŒๅ‹•ใŒใงใใชใ„ใ€‚๏ผ‰ใงใ‚ใ‚Šใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ๅฐๅž‹ๅˆใฏๅคงๅž‹ใฎ้‹ๅ‹•็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใ€้žๅฏพ็งฐๆ€งใฎๅผท็›ด็™บไฝœใ€้Ž้‹ๅ‹•็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅนณๅ‡็™บ็—‡ๅนด้ฝขใฏ๏ผ–ๆญณ๏ผˆ๏ผ๏ฝž24ๆญณ๏ผ‰ใ€‚็‰นๅพด็š„ใช่„ณๆณข็•ฐๅธธใ‚’ไผดใ†ใ€‚ใ•ใพใ–ใพใช็จ‹ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ‚„่กŒๅ‹•้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200597" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ring Chromosome 20 Syndrome"@en, "็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Ring chromosome 20 syndrome"@en, "ใ‹ใ‚“ใ˜ใ‚‡ใ†20ใฐใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Ring chromosome 20 epilepsy syndrome"@en ; - skos:closeMatch mondo:MONDO_0015436 ; + skos:closeMatch obo:MONDO_0015436 ; skos:prefLabel "็’ฐ็Šถ20็•ชๆŸ“่‰ฒไฝ“็—‡ๅ€™็พค"@ja . -:1200598 - :hasNotificationNumber "151" ; - terms:description "ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฅๅธธ่€…ใซไฝ•ใ‚‰ใ‹ใฎๅ…ˆ่กŒๆ„ŸๆŸ“็—‡ใ‚„ใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎใŒใ‚ใฃใŸๅพŒใซใ€ใ‚ใ‚‹ใ„ใฏๅ…ˆ่กŒๆ„ŸๆŸ“ใชใ้™ๅฑ€ๆ€งใซ็ดฐ่ƒžๅ‚ทๅฎณๆ€งT็ดฐ่ƒžใ‚’ไธปๅฝนใจใ—ใŸ่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€้€šๅธธใฏใฆใ‚“ใ‹ใ‚“็™บไฝœใง็™บ็—…ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใŒ้›ฃๆฒปใซ็ตŒ้Žใ—ใ€ๆฌก็ฌฌใซ็‰‡้บป็—บใƒป็Ÿฅ็š„้šœๅฎณใชใฉใŒๅ‡บ็พใ—ใ€ๅŠ็ƒๆ€งใฎ่Ž็ธฎใŒMRIใงๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็—…ๅนด้ฝขใฏๅนณๅ‡9.0๏ผˆยฑ10.3๏ผ‰ๆญณใ ใŒใ€ๆˆไบบใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใ€‚"@ja ; - terms:identifier "1200598" ; - terms:source ; - a owl:Class ; - rdfs:label "Rasmussen's Encephalitis"@en, "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Rasmussen encephalitis"@en ; - skos:closeMatch mondo:MONDO_0016019 ; + + nando:hasNotificationNumber "151" ; + dcterms:description "ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฅๅธธ่€…ใซไฝ•ใ‚‰ใ‹ใฎๅ…ˆ่กŒๆ„ŸๆŸ“็—‡ใ‚„ใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎใŒใ‚ใฃใŸๅพŒใซใ€ใ‚ใ‚‹ใ„ใฏๅ…ˆ่กŒๆ„ŸๆŸ“ใชใ้™ๅฑ€ๆ€งใซ็ดฐ่ƒžๅ‚ทๅฎณๆ€งT็ดฐ่ƒžใ‚’ไธปๅฝนใจใ—ใŸ่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€้€šๅธธใฏใฆใ‚“ใ‹ใ‚“็™บไฝœใง็™บ็—…ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใŒ้›ฃๆฒปใซ็ตŒ้Žใ—ใ€ๆฌก็ฌฌใซ็‰‡้บป็—บใƒป็Ÿฅ็š„้šœๅฎณใชใฉใŒๅ‡บ็พใ—ใ€ๅŠ็ƒๆ€งใฎ่Ž็ธฎใŒMRIใงๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็—…ๅนด้ฝขใฏๅนณๅ‡9.0๏ผˆยฑ10.3๏ผ‰ๆญณใ ใŒใ€ๆˆไบบใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200598" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Rasmussen's encephalitis"@en, "ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Rasmussen encephalitis"@en, "Rasmussen่„ณ็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0016019 ; skos:prefLabel "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja . -:1200599 - :hasNotificationNumber "152" ; - terms:description "ๆญฃๅธธๅˆใฏ่ปฝๅบฆใฎ้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œใ‚’ๆœ‰ใ™ใ‚‹ไนณๅนผๅ…ๆœŸใฎๅฅณๅ…ใซใ€็™บ็†ฑใƒปๆ„ŸๆŸ“็—‡็ญ‰ใ‚’ๅฅ‘ๆฉŸใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏไธ€ๅบฆๅ‡บ็พใ™ใ‚‹ใจ้ซ˜็Ž‡ใซ็พค็™บใ—๏ผˆๆ—ฅใซไฝ•ๅบฆใ‚‚็นฐใ‚Š่ฟ”ใ™ใ€‚๏ผ‰ใ€ไปฅ้™ใ‚‚ใ—ใฐใ—ใฐ็™บ็†ฑใชใฉใซไผดใ„้ ‘ๅ›บใช็™บไฝœ็พค็™บใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅพŒใฏใ€ใ—ใฐใ—ใฐ็Ÿฅ็š„้šœๅฎณใŒ้€ฒ่กŒใ—ใ€่‡ช้–‰ใ€ๅคšๅ‹•ใ€็จฎใ€…ใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "1200599" ; - terms:source ; - a owl:Class ; - rdfs:label "PCDH19-related Syndrome"@en, "๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Epilepsy and mental retardation limited to females"@en, "PCDH19 Epilepsy"@en ; - skos:closeMatch mondo:MONDO_0010246 ; + + nando:hasNotificationNumber "152" ; + dcterms:description "ๆญฃๅธธๅˆใฏ่ปฝๅบฆใฎ้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œใ‚’ๆœ‰ใ™ใ‚‹ไนณๅนผๅ…ๆœŸใฎๅฅณๅ…ใซใ€็™บ็†ฑใƒปๆ„ŸๆŸ“็—‡็ญ‰ใ‚’ๅฅ‘ๆฉŸใซใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏไธ€ๅบฆๅ‡บ็พใ™ใ‚‹ใจ้ซ˜็Ž‡ใซ็พค็™บใ—๏ผˆๆ—ฅใซไฝ•ๅบฆใ‚‚็นฐใ‚Š่ฟ”ใ™ใ€‚๏ผ‰ใ€ไปฅ้™ใ‚‚ใ—ใฐใ—ใฐ็™บ็†ฑใชใฉใซไผดใ„้ ‘ๅ›บใช็™บไฝœ็พค็™บใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅพŒใฏใ€ใ—ใฐใ—ใฐ็Ÿฅ็š„้šœๅฎณใŒ้€ฒ่กŒใ—ใ€่‡ช้–‰ใ€ๅคšๅ‹•ใ€็จฎใ€…ใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200599" ; + dcterms:source ; + a owl:Class ; + rdfs:label "PCDH19-related syndrome"@en, "ใดใƒผใ—ใƒผใงใƒใƒผใˆใ„ใก19ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EFMR"@en, "Epilepsy and mental retardation limited to females"@en, "PCDH19 epilepsy"@en, "PCDH19-related epilepsy"@en, "PCDH19้–ข้€ฃใฆใ‚“ใ‹ใ‚“"@ja ; + skos:closeMatch obo:MONDO_0010246 ; skos:prefLabel "๏ผฐ๏ผฃ๏ผค๏ผจ19้–ข้€ฃ็—‡ๅ€™็พค"@ja . -:1200600 - :hasNotificationNumber "153" ; - terms:description "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž๏ผˆacute encephalitis with refractory, repetitive partial seizures ๏ผšAERRPS๏ผ‰ใฏใ€ๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ็„ฆ็‚น็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑๅž‹๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚Febrile infection related epilepsy syndrome ๏ผˆFIRES๏ผ‰ใ€New onset refractory status epilepsy ๏ผˆNORSE๏ผ‰็—‡ๅ€™็พคใจใปใผๅŒ็พฉใงใ‚ใ‚‹ใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š็—™ๆ”ฃใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸใ€็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200600" ; - terms:source ; - a owl:Class ; - rdfs:label "Acute encephalitis with refractory, repetitive partial seizures"@en, "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Refractory frequent partial seizures intussusception acute encephalitis"@en ; - skos:closeMatch mondo:MONDO_0015584 ; + + nando:hasNotificationNumber "153" ; + dcterms:description "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž๏ผˆacute encephalitis with refractory, repetitive partial seizures ๏ผšAERRPS๏ผ‰ใฏใ€ๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ็„ฆ็‚น็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑๅž‹๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚Febrile infection related epilepsy syndrome ๏ผˆFIRES๏ผ‰ใ€New onset refractory status epilepsy ๏ผˆNORSE๏ผ‰็—‡ๅ€™็พคใจใปใผๅŒ็พฉใงใ‚ใ‚‹ใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š็—™ๆ”ฃใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸใ€็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200600" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute encephalitis with refractory, repetitive partial seizures"@en, "ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“"@ja-Hira, "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "AERRPS"@en, "Refractory frequent partial seizures intussusception acute encephalitis"@en ; + skos:closeMatch obo:MONDO_0015584 ; skos:prefLabel "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja . -:1200601 - :hasNotificationNumber "154" ; - terms:description "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200601" ; - terms:source ; + + nando:hasNotificationNumber "154" ; + dcterms:description "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200601" ; + dcterms:source ; a owl:Class ; - rdfs:label "Epileptic Encephalopathy with Continuous Spike-and-Wave During Sleep"@en, "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Epileptic encephalopathy with continuous spike-and-wave during sleep"@en, "ใ˜ใ‚‡ใฏใ™ใ„ใฟใ‚“ใใ˜ใžใใ›ใ„ใใ‚‡ใใ˜ใ‚‡ใฏใ‚’ใ—ใ‚ใ™ใฆใ‚“ใ‹ใ‚“ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Epilepsy with continuous spikes and waves during slow sleep"@en ; + skos:closeMatch obo:MONDO_0019123, obo:MONDO_0022858 ; skos:prefLabel "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡"@ja . -:1200602 - :hasNotificationNumber "155" ; - terms:description "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200602" ; - terms:source ; - a owl:Class ; - rdfs:label "Landau-Kleffner Syndrome"@en, "ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Acquired aphasia with convulsive disorder"@en ; - skos:closeMatch mondo:MONDO_0009509 ; + + nando:hasNotificationNumber "155" ; + dcterms:description "ๅพๆณข็ก็œ ๆœŸๆŒ็ถšๆ€งๆฃ˜ๅพๆณขใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใฏใ€็„ฆ็‚นๆ€ง็™บไฝœใชใ‚‰ใณใซไธ€่ฆ‹ๅ…จ่ˆฌๆ€งใฎ็™บไฝœ๏ผˆ็‰‡ๅดใ‚ใ‚‹ใ„ใฏไธกๅดๆ€งใฎ้–“ไปฃ็™บไฝœใ€ๅผท็›ด้–“ไปฃ็™บไฝœใ€ๆฌ ็ฅž็™บไฝœ๏ผ‰ใ‚’็”Ÿใ˜ใ€ๅพๆณข็ก็œ ๆ™‚ใซๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๆŒ็ถšๆ€งใซๅ‡บ็พใ—ใ€็Ÿฅ็š„ใƒป่ช็ŸฅๆฉŸ่ƒฝใฎ้€€่กŒใฎๅฝขใ‚’ใจใ‚‹็ฅž็ตŒๅฟƒ็†ๅญฆ็š„้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้–ข้€ฃ็—‡ๅ€™็พคใซใ€ๅบƒๆฑŽๆ€งๆฃ˜ๅพๆณขใŒๅ„ชๅ‹ขใซๅ‡บ็พใ™ใ‚‹้ƒจไฝใซๅฏพๅฟœใ—ใฆใ€่ด่ฆšๆ€ง่จ€่ชž้šœๅฎณใ‚’ไธปๅพดใจใ™ใ‚‹ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200602" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Landau-Kleffner syndrome"@en, "ใ‚‰ใ‚“ใฉใ†ใƒปใใ‚Œใตใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Acquired aphasia with convulsive disorder"@en, "Landau-Kleffner็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009509 ; skos:prefLabel "ใƒฉใƒณใƒ‰ใ‚ฆใƒปใ‚ฏใƒฌใƒ•ใƒŠใƒผ็—‡ๅ€™็พค"@ja . -:1200603 - :hasNotificationNumber "156" ; - terms:description "1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "1200603" ; - terms:source ; - a owl:Class ; - rdfs:label "Rett's Syndrome"@en, "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Rett syndrome"@en ; - skos:closeMatch mondo:MONDO_0010726 ; - skos:prefLabel "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja . - -:1200604 - :hasNotificationNumber "156" ; - terms:identifier "1200604" ; - terms:source ; + + nando:hasNotificationNumber "156" ; + dcterms:description "1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200603" ; + dcterms:source ; a owl:Class ; - rdfs:label "ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . + rdfs:label "Rett syndrome"@en, "ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Rett็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010726 ; + skos:prefLabel "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja . -:1200605 - :hasNotificationNumber "156" ; - terms:identifier "1200605" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical Rett syndrome"@en, "้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017746 ; + + nando:hasNotificationNumber "156" ; + dcterms:identifier "NANDO:1200604" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Typical Rett syndrome"@en, "ใฆใ‚“ใ‘ใ„ใฆใใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ธๅž‹็š„Rett็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010726 ; + skos:prefLabel "ๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "156" ; + dcterms:identifier "NANDO:1200605" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical Rett syndrome"@en, "ใฒใฆใ‚“ใ‘ใ„ใฆใใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "้žๅ…ธๅž‹็š„Rett็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0017746 ; skos:prefLabel "้žๅ…ธๅž‹็š„ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja . -:1200606 - :hasNotificationNumber "157" ; - terms:description "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€่„ณๅ†…ใฎ่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใฎใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ€็œผใฎ็ท‘ๅ†…้šœใ‚’ๆœ‰ใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใชใฉใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200606" ; - terms:source ; + + nando:hasNotificationNumber "157" ; + dcterms:description "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€่„ณๅ†…ใฎ่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใฎใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ€็œผใฎ็ท‘ๅ†…้šœใ‚’ๆœ‰ใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใชใฉใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200606" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sturge-Weber syndrome"@en, "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008501 ; + rdfs:label "Sturge-Weber syndrome"@en, "ใ™ใŸใƒผใ˜ใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008501 ; skos:prefLabel "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja . -:1200607 - :hasNotificationNumber "158" ; - terms:description "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆtuberous sclerosis complex๏ผšTSC๏ผ‰ใฏใ€ๅŽŸๅ› ้บไผๅญTSC1ใ€TSC2ใฎ็”ฃ็”Ÿใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใƒใƒžใƒซใƒใƒณใ€ใƒใƒฅใƒ™ใƒชใƒณใฎ่ค‡ๅˆไฝ“ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ไธ‹ๆตใฎmTORC1ใฎๆŠ‘ๅˆถใŒใจใ‚Œใ‚‹ใŸใ‚ใซใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใชใฉใฎ่กŒๅ‹•็•ฐๅธธใ‚„ใ€ไธŠ่กฃไธ‹ๅทจ็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ๏ผˆSEGA๏ผ‰ใ€่…Ž่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ€ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใ€้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใชใฉใฎ้Ž่ชค่…ซใ‚’ๅ…จ่บซใซ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200607" ; - terms:source ; - a owl:Class ; - rdfs:label "Tuberous Sclerosis Complex"@en, "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Tuberous sclerosis"@en ; - skos:closeMatch mondo:MONDO_0001734, mondo:MONDO_0008612, mondo:MONDO_0019341 ; + + nando:hasNotificationNumber "158" ; + dcterms:description "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡๏ผˆtuberous sclerosis complex๏ผšTSC๏ผ‰ใฏใ€ๅŽŸๅ› ้บไผๅญTSC1ใ€TSC2ใฎ็”ฃ็”Ÿใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใƒใƒžใƒซใƒใƒณใ€ใƒใƒฅใƒ™ใƒชใƒณใฎ่ค‡ๅˆไฝ“ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ไธ‹ๆตใฎmTORC1ใฎๆŠ‘ๅˆถใŒใจใ‚Œใ‚‹ใŸใ‚ใซใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใชใฉใฎ่กŒๅ‹•็•ฐๅธธใ‚„ใ€ไธŠ่กฃไธ‹ๅทจ็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ๏ผˆSEGA๏ผ‰ใ€่…Ž่ก€็ฎก็ญ‹่„‚่‚ช่…ซใ€ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆlymphangioleiomyomatosis๏ผšLAM๏ผ‰ใ€้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใชใฉใฎ้Ž่ชค่…ซใ‚’ๅ…จ่บซใซ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200607" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tuberous sclerosis complex"@en, "ใ‘ใฃใ›ใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "TSC"@en, "Tuberous sclerosis"@en ; + skos:closeMatch obo:MONDO_0001734, obo:MONDO_0019341 ; skos:prefLabel "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡"@ja . -:1200608 - :hasNotificationNumber "159" ; - terms:description "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ใฏใ€ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ๏ผ˜ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ‚ฟใ‚คใƒ—ใซใ‚ˆใ‚Šๆง˜ใ€…ใช็ฅž็ตŒ็—‡็Šถใ‚’ๆฅใ™ใ“ใจใ‚‚ใ‚ใ‚‹ๅ…จ่บซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200608" ; - terms:source ; + + nando:hasNotificationNumber "159" ; + dcterms:description "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡ใฏใ€ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ๏ผ˜ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ‚ฟใ‚คใƒ—ใซใ‚ˆใ‚Šๆง˜ใ€…ใช็ฅž็ตŒ็—‡็Šถใ‚’ๆฅใ™ใ“ใจใ‚‚ใ‚ใ‚‹ๅ…จ่บซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200608" ; + dcterms:source ; a owl:Class ; - rdfs:label "Xeroderma pigmentosum"@en, "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019600 ; + rdfs:label "Xeroderma pigmentosum"@en, "ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ†"@ja-Hira, "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "XP"@en ; + skos:closeMatch obo:MONDO_0019600 ; skos:prefLabel "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja . -:1200609 - :hasNotificationNumber "160" ; - terms:description "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€็šฎ่†šใฎใƒใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ€‚ๅ‡บ็”Ÿๆ™‚ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซใ€ๅ…จ่บซๅˆใฏๅบƒ็ฏ„ๅ›ฒใฎ็šฎ่†šใŒๅŽšใ„่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ไปฅไธ‹ใฎ๏ผ”็ดฐๅˆ†้กžใ‚’ๅซใ‚€ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็ดฐๅˆ†้กž๏ผ‘๏ผšใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ๏ผˆ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€งใƒปๅŠฃๆ€ง๏ผ‰ใ€่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ’๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ ็ดฐๅˆ†้กž๏ผ“๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ใ€่‘‰็Šถ้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ”๏ผš้ญš้ฑ—็™ฌ็—‡ๅ€™็พค๏ผˆใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พคใ€ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พคใ€KID๏ผˆkeratitis-ichtyosis-deafness๏ผ‰็—‡ๅ€™็พคใ€ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พคใ€ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ใ€ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใ€ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature๏ผˆIBID๏ผ‰ใ€Trichothiodystrophyใ€ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌใ€CHILD๏ผˆcongenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects๏ผ‰็—‡ๅ€™็พคใ€Conradi-Hรผnermann-Happle็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰"@ja ; - terms:identifier "1200609" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€็šฎ่†šใฎใƒใƒชใ‚ขๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ€‚ๅ‡บ็”Ÿๆ™‚ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซใ€ๅ…จ่บซๅˆใฏๅบƒ็ฏ„ๅ›ฒใฎ็šฎ่†šใŒๅŽšใ„่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฏใ€ไปฅไธ‹ใฎ๏ผ”็ดฐๅˆ†้กžใ‚’ๅซใ‚€ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็ดฐๅˆ†้กž๏ผ‘๏ผšใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ๏ผˆ่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€งใƒปๅŠฃๆ€ง๏ผ‰ใ€่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ’๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ ็ดฐๅˆ†้กž๏ผ“๏ผš้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡ใ€่‘‰็Šถ้ญš้ฑ—็™ฌใ‚’ๅซใ‚€ใ€‚๏ผ‰ใ€€็ดฐๅˆ†้กž๏ผ”๏ผš้ญš้ฑ—็™ฌ็—‡ๅ€™็พค๏ผˆใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พคใ€ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พคใ€KID๏ผˆkeratitis-ichtyosis-deafness๏ผ‰็—‡ๅ€™็พคใ€ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พคใ€ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡ใ€ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใ€ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature๏ผˆIBID๏ผ‰ใ€Trichothiodystrophyใ€ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌใ€CHILD๏ผˆcongenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects๏ผ‰็—‡ๅ€™็พคใ€Conradi-Hรผnermann-Happle็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰"@ja ; + dcterms:identifier "NANDO:1200609" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital ichthyosis"@en, "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015947 ; + rdfs:label "Congenital ichthyosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015947 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja . -:1200610 - :hasNotificationNumber "160" ; - terms:identifier "1200610" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200610" ; + dcterms:source ; a owl:Class ; - rdfs:label "Keratinopathic ichthyosis"@en, "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017266 ; + rdfs:label "Keratinopathic ichthyosis"@en, "ใ‘ใ‚‰ใกใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017266 ; skos:prefLabel "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ"@ja . -:1200611 - :hasNotificationNumber "160" ; - terms:identifier "1200611" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200611" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autosomalย dominant epidermolytic ichthyosis"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007239, mondo:MONDO_0020702 ; + rdfs:label "Autosomal dominant epidermolytic ichthyosis"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020702 ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja . -:1200612 - :hasNotificationNumber "160" ; - terms:identifier "1200612" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200612" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autosomal recessive epidermolytic ichthyosis"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0044742 ; + rdfs:label "Autosomal recessive epidermolytic ichthyosis"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0044742 ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja . -:1200613 - :hasNotificationNumber "160" ; - terms:identifier "1200613" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200613" ; + dcterms:source ; a owl:Class ; - rdfs:label "Superficial epidermolytic ichthyosis"@en, "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007813 ; + rdfs:label "Superficial epidermolytic ichthyosis"@en, "ใฒใ‚‡ใ†ใ–ใ„ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007813 ; skos:prefLabel "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja . -:1200614 - :hasNotificationNumber "160" ; - terms:identifier "1200614" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200614" ; + dcterms:source ; a owl:Class ; - rdfs:label "Harlequin ichthyosis"@en, "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009443 ; + rdfs:label "Harlequin ichthyosis"@en, "ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009443 ; skos:prefLabel "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ"@ja . -:1200615 - :hasNotificationNumber "160" ; - terms:identifier "1200615" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200615" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autosomal recessive congenital ichthyosis"@en, "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017265 ; + rdfs:label "Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis"@en, "ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ„ใŒใ„ใฎใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017265 ; skos:prefLabel "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌไปฅๅค–ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ"@ja . -:1200616 - :hasNotificationNumber "160" ; - terms:identifier "1200616" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200616" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital Ichthyosiform Erythroderma"@en, "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019306 ; + rdfs:label "Congenital ichthyosiform erythroderma"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ‚ˆใ†ใ“ใ†ใฒใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Non-bullous congenital ichthyosiform erythroderma"@en ; + skos:closeMatch obo:MONDO_0019306 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌๆง˜็ด…็šฎ็—‡"@ja . -:1200617 - :hasNotificationNumber "160" ; - terms:identifier "1200617" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200617" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lamellar ichthyosis"@en, "่‘‰็Šถ้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017778, mondo:MONDO_0019306 ; + rdfs:label "Lamellar ichthyosis"@en, "ใ‚ˆใ†ใ˜ใ‚‡ใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "่‘‰็Šถ้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017778, obo:MONDO_0019306 ; skos:prefLabel "่‘‰็Šถ้ญš้ฑ—็™ฌ"@ja . -:1200618 - :hasNotificationNumber "160" ; - terms:identifier "1200618" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200618" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ichthyosis syndrome"@en, "้ญš้ฑ—็™ฌ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019269 ; + rdfs:label "Ichthyosis syndrome"@en, "ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ญš้ฑ—็™ฌ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019269 ; skos:prefLabel "้ญš้ฑ—็™ฌ็—‡ๅ€™็พค"@ja . -:1200619 - :hasNotificationNumber "160" ; - terms:identifier "1200619" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200619" ; + dcterms:source ; a owl:Class ; - rdfs:label "Netherton syndrome"@en, "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009735 ; + rdfs:label "Netherton syndrome"@en, "ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Netherton็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009735 ; skos:prefLabel "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja . -:1200620 - :hasNotificationNumber "160" ; - terms:identifier "1200620" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200620" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sjรถgren-Larsson syndrome"@en, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Sjogren-Larsson syndrome"@en ; - skos:closeMatch mondo:MONDO_0010031 ; + rdfs:label "Sjรถgren-Larsson syndrome"@en, "ใ—ใ‡ใƒผใใ‚Œใ‚“ใƒปใ‚‰ใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Sjogren-Larsson syndrome"@en, "Sjรถgren-Larsson็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010031 ; skos:prefLabel "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:1200621 - :hasNotificationNumber "160" ; - terms:identifier "1200621" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200621" ; + dcterms:source ; a owl:Class ; - rdfs:label "KID็—‡ๅ€™็พค"@ja, "Keratitis-ichthyosis-deafness syndrome"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "KID็—‡ๅ€™็พค"@ja, "Keratitis-ichthyosis-deafness syndrome"@en, "ใ‘ใƒผใ‚ใ„ใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "KID syndrome"@en ; - skos:closeMatch mondo:MONDO_0018781 ; + skos:closeMatch obo:MONDO_0018781 ; skos:prefLabel "KID็—‡ๅ€™็พค"@ja . -:1200622 - :hasNotificationNumber "160" ; - terms:identifier "1200622" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200622" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dorfman-Chanarin syndrome"@en, "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Chanarin-Dorfman Syndrome"@en ; - skos:closeMatch mondo:MONDO_0010155, mondo:MONDO_0015611 ; + rdfs:label "Dorfman-Chanarin syndrome"@en, "ใฉใ‚‹ใตใพใ‚“ใƒปใ—ใ‚ƒใชใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Chanarin-Dorfman Syndrome"@en, "Dorfman-Chanarin็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010155, obo:MONDO_0015611 ; skos:prefLabel "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค"@ja . -:1200623 - :hasNotificationNumber "160" ; - terms:identifier "1200623" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200623" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neutral lipid storage disease with ichthyosis"@en, "ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "NLSDI"@en, "ichthyotic neutral lipid storage disease"@en ; - skos:closeMatch mondo:MONDO_0010155 ; + rdfs:label "Neutral lipid storage disease with ichthyosis"@en, "ใกใ‚…ใ†ใ›ใ„ใ—ใผใ†ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Ichthyotic neutral lipid storage disease"@en, "NLSDI"@en ; + skos:closeMatch obo:MONDO_0010155 ; skos:prefLabel "ไธญๆ€ง่„‚่‚ช่“„็ฉ็—‡"@ja . -:1200624 - :hasNotificationNumber "160" ; - terms:identifier "1200624" ; - terms:source ; - a owl:Class ; - rdfs:label "Multiple sulfatase deficiency"@en, "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010088 ; - skos:prefLabel "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . - -:1200625 - :hasNotificationNumber "160" ; - terms:identifier "1200625" ; - terms:source ; - a owl:Class ; - rdfs:label "Recessive X-linked ichtyosis"@en, "X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200624" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Multiple sulfatase deficiency"@en, "ใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010088 ; + skos:prefLabel "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200625" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Recessive X-linked ichtyosis"@en, "X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ‚Œใฃใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010622 ; skos:prefLabel "X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้ญš้ฑ—็™ฌ็—‡ๅ€™็พค"@ja . -:1200626 - :hasNotificationNumber "160" ; - terms:identifier "1200626" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200626" ; + dcterms:source ; a owl:Class ; - rdfs:label "IBID"@ja, "ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "IBID"@ja, "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature"@en, "ใ‚ใ„ใณใƒผใ‚ใ„ใงใƒใƒผ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "IBID"@en ; + skos:closeMatch obo:MONDO_0002470 ; skos:prefLabel "IBID"@ja . -:1200627 - :hasNotificationNumber "160" ; - terms:identifier "1200627" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200627" ; + dcterms:source ; a owl:Class ; - rdfs:label "Trichothiodystrophy"@en, "็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Trichothiodystrophy"@en, "ใ„ใŠใ†ใ‘ใคใผใ†ใ›ใ„ใ‚‚ใ†ใฏใคใฏใคใ„ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Trichothiodystrophy"@ja ; - skos:closeMatch mondo:MONDO_0002470, mondo:MONDO_0018053 ; + skos:closeMatch obo:MONDO_0018053 ; skos:prefLabel "็กซ้ป„ๆฌ ไนๆ€งๆฏ›้ซช็™บ่‚ฒ็•ฐๅธธ็—‡"@ja . -:1200628 - :hasNotificationNumber "160" ; - terms:identifier "1200628" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200628" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ichthyosis Follicularis"@en, "ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Ichthyosis follicularis"@en, "ใ‚‚ใ†ใปใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0043094 ; skos:prefLabel "ๆฏ›ๅŒ…ๆ€ง้ญš้ฑ—็™ฌ"@ja . -:1200629 - :hasNotificationNumber "160" ; - terms:identifier "1200629" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200629" ; + dcterms:source ; a owl:Class ; - rdfs:label "CHILD็—‡ๅ€™็พค"@ja, "congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "CHILD syndrome"@en ; - skos:closeMatch mondo:MONDO_0010621, mondo:MONDO_0017015 ; + rdfs:label "CHILD syndrome"@en, "CHILD็—‡ๅ€™็พค"@ja, "ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital hemidysplasia with ichthyosiform nevus and limb defects"@en ; + skos:closeMatch obo:MONDO_0010621 ; skos:prefLabel "CHILD็—‡ๅ€™็พค"@ja . -:1200630 - :hasNotificationNumber "160" ; - terms:identifier "1200630" ; - terms:source ; + + nando:hasNotificationNumber "160" ; + dcterms:identifier "NANDO:1200630" ; + dcterms:source ; a owl:Class ; - rdfs:label "Conradi Hรผnermann Happle syndrome"@en, "Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Conradi Hunermann Happle syndrome"@en ; - skos:closeMatch mondo:MONDO_0020603 ; + rdfs:label "Conradi Hรผnermann Happle syndrome"@en, "Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค"@ja, "ใ“ใ‚“ใ‚‰ใƒผใงใƒใฒใ‚…ใƒผใญใ‚‹ใพใ‚“ใฏใฃใทใ‚‹็—‡ๅ€™็พค"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Conradi Hunermann Happle syndrome"@en, "Conradi-Hรผnermann-Happle็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0020603 ; skos:prefLabel "Conradi-Hรผnermann-Happle ็—‡ๅ€™็พค"@ja . -:1200631 - :hasNotificationNumber "161" ; - terms:description "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก๏ผˆใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็šฎ่†š็–พๆ‚ฃใงใ€็”Ÿไธ‹ๆ™‚ใซใฏ็šฎ่†š็—…ๅค‰ใฏใชใ้’ๅฃฎๅนดๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…‹็ชฉใƒป้™ฐ่‚ก้ƒจใƒป้ ธ้ƒจใƒป่‚›ๅ›ฒใชใฉใฎ้–“ๆ“ฆ้ƒจใซๅฐๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ€็—‚็šฎใ‚’ๅฝขๆˆใ™ใ‚‹ใŒใ€ใ‚ˆใ‚Šๅบƒ็ฏ„ๅ›ฒใซ็šฎ่†š็—…ๅค‰ใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้€šๅธธใ€ไบˆๅพŒ่‰ฏๅฅฝใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅคๅญฃใซๆ‚ชๅŒ–ใ—ใ€็ดซๅค–็ทšๆ›้œฒใ‚„ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ€ไบŒๆฌกๆ„ŸๆŸ“ใŒๅข—ๆ‚ชๅ› ๅญใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏใ€่กจ็šฎๅŸบๅบ•ๅฑค็›ดไธŠใ‹ใ‚‰ไธŠๅฑคใฎๆฃ˜่ž่งฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏATP2C1ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200631" ; - terms:source ; + + nando:hasNotificationNumber "161" ; + dcterms:description "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก๏ผˆใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…๏ผ‰ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็šฎ่†š็–พๆ‚ฃใงใ€็”Ÿไธ‹ๆ™‚ใซใฏ็šฎ่†š็—…ๅค‰ใฏใชใ้’ๅฃฎๅนดๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่…‹็ชฉใƒป้™ฐ่‚ก้ƒจใƒป้ ธ้ƒจใƒป่‚›ๅ›ฒใชใฉใฎ้–“ๆ“ฆ้ƒจใซๅฐๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ€็—‚็šฎใ‚’ๅฝขๆˆใ™ใ‚‹ใŒใ€ใ‚ˆใ‚Šๅบƒ็ฏ„ๅ›ฒใซ็šฎ่†š็—…ๅค‰ใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้€šๅธธใ€ไบˆๅพŒ่‰ฏๅฅฝใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅคๅญฃใซๆ‚ชๅŒ–ใ—ใ€็ดซๅค–็ทšๆ›้œฒใ‚„ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ€ไบŒๆฌกๆ„ŸๆŸ“ใŒๅข—ๆ‚ชๅ› ๅญใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏใ€่กจ็šฎๅŸบๅบ•ๅฑค็›ดไธŠใ‹ใ‚‰ไธŠๅฑคใฎๆฃ˜่ž่งฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏATP2C1ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200631" ; + dcterms:source ; a owl:Class ; - rdfs:label "Benign Familial Pemphigus"@en, "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Benign familial pemphigus"@en, "ใ‹ใžใใ›ใ„ใ‚Šใ‚‡ใ†ใ›ใ„ใพใ‚“ใ›ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Familial benign chronic pemphigus"@en, "Hailey-Hailey disease"@en, "ใƒ˜ใ‚คใƒชใƒผใƒปใƒ˜ใ‚คใƒชใƒผ็—…"@ja ; - skos:closeMatch mondo:MONDO_0008218 ; + skos:closeMatch obo:MONDO_0008218 ; skos:prefLabel "ๅฎถๆ—ๆ€ง่‰ฏๆ€งๆ…ขๆ€งๅคฉ็–ฑ็˜ก"@ja . -:1200632 - :hasNotificationNumber "162" ; - terms:description "่กจ็šฎๅŸบๅบ•่†œๆง‹ๆˆใ‚ฟใƒณใƒ‘ใ‚ฏใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆIgG๏ผ‰ใซใ‚ˆใฃใฆใ€่กจ็šฎไธ‹ๆฐด็–ฑใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑ็—‡ใ€‚ๅ…จ่บซใฎ็šฎ่†šๅŠใณ็ฒ˜่†œใซใ€ๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹ใ€‚้กžๅคฉ็–ฑ็˜กใซใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็šฎ่†šใซ็—‡็Šถ๏ผ‰ใจ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็ฒ˜่†œใซ็—‡็Šถ๏ผ‰ใฎไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜กใจ่‡จๅบŠ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€็—…็†ๅญฆ็š„ๆ‰€่ฆ‹ใ€่›ๅ…‰ๆŠ—ไฝ“ๆณ•ๆ‰€่ฆ‹ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€็พๆ™‚็‚นใงใฏๅŒไธ€ใฎ็–พ็—…ใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; - terms:identifier "1200632" ; - terms:source ; + + nando:hasNotificationNumber "162" ; + dcterms:description "่กจ็šฎๅŸบๅบ•่†œๆง‹ๆˆใ‚ฟใƒณใƒ‘ใ‚ฏใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“๏ผˆIgG๏ผ‰ใซใ‚ˆใฃใฆใ€่กจ็šฎไธ‹ๆฐด็–ฑใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€งๆฐด็–ฑ็—‡ใ€‚ๅ…จ่บซใฎ็šฎ่†šๅŠใณ็ฒ˜่†œใซใ€ๆฐด็–ฑใ‚„ใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹ใ€‚้กžๅคฉ็–ฑ็˜กใซใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็šฎ่†šใซ็—‡็Šถ๏ผ‰ใจ็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก๏ผˆไธปใซ็ฒ˜่†œใซ็—‡็Šถ๏ผ‰ใฎไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜กใจ่‡จๅบŠ็—‡็ŠถใŒ้กžไผผใ—ใฆใŠใ‚Šใ€็—…็†ๅญฆ็š„ๆ‰€่ฆ‹ใ€่›ๅ…‰ๆŠ—ไฝ“ๆณ•ๆ‰€่ฆ‹ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€็พๆ™‚็‚นใงใฏๅŒไธ€ใฎ็–พ็—…ใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:1200632" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pemphigoid ๏ผˆincluding Epidermolysis Bullosa Acquisita๏ผ‰"@en, "้กžๅคฉ็–ฑ็˜ก"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Pemphigoid (including Epidermolysis bullosa acquisita)"@en, "ใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "้กžๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Pemphigoid"@en ; - skos:closeMatch mondo:MONDO_0019082 ; + skos:closeMatch obo:MONDO_0019082 ; skos:prefLabel "้กžๅคฉ็–ฑ็˜ก"@ja . -:1200633 - :hasNotificationNumber "162" ; - terms:identifier "1200633" ; - terms:source ; + + nando:hasNotificationNumber "162" ; + dcterms:identifier "NANDO:1200633" ; + dcterms:source ; a owl:Class ; - rdfs:label "bullous pemphigoid"@en, "ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019082 ; + rdfs:label "Bullous pemphigoid"@en, "ใ™ใ„ใปใ†ใ›ใ„ใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019082 ; skos:prefLabel "ๆฐด็–ฑๆ€ง้กžๅคฉ็–ฑ็˜ก"@ja . -:1200634 - :hasNotificationNumber "162" ; - terms:identifier "1200634" ; - terms:source ; + + nando:hasNotificationNumber "162" ; + dcterms:identifier "NANDO:1200634" ; + dcterms:source ; a owl:Class ; - rdfs:label "mucous membrane pemphigoid"@en, "็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018746 ; + rdfs:label "Mucous membrane pemphigoid"@en, "ใญใ‚“ใพใใ‚‹ใ„ใฆใ‚“ใฝใ†ใใ†"@ja-Hira, "็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018746 ; skos:prefLabel "็ฒ˜่†œ้กžๅคฉ็–ฑ็˜ก"@ja . -:1200635 - :hasNotificationNumber "162" ; - terms:identifier "1200635" ; - terms:source ; + + nando:hasNotificationNumber "162" ; + dcterms:identifier "NANDO:1200635" ; + dcterms:source ; a owl:Class ; - rdfs:label "Epidermolysis bullosa acquisita"@en, "ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018747 ; + rdfs:label "Epidermolysis bullosa acquisita"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018747 ; skos:prefLabel "ๅพŒๅคฉๆ€ง่กจ็šฎๆฐด็–ฑ็—‡"@ja . -:1200636 - :hasNotificationNumber "163" ; - terms:description "็™บๆฑ—ใ‚’ไฟƒใ™็’ฐๅขƒไธ‹๏ผˆ้ซ˜ๆธฉใ€ๅคšๆนฟ๏ผ‰ใซใŠใ„ใฆใ‚‚ใ€็™บๆฑ—ใŒใฟใ‚‰ใ‚Œใชใ„็–พๆ‚ฃใ‚’็„กๆฑ—็—‡ใจใ„ใ†ใ€‚ใพใ‚Œใช็–พๆ‚ฃใง็™บ็—‡็Ž‡ใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใ€‚็„กๆฑ—ใฎใŸใ‚ใ€็šฎ่†šใฏไนพ็‡ฅใ—ใ€ๆ™‚ใซใฏใ‚ณใƒชใƒณๆ€ง่•้บป็–นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€้ซ˜ๆธฉใฎ็’ฐๅขƒไธ‹ใซใŠใ„ใฆไฝ“ๆธฉ่ชฟ็ฏ€ใŒใงใใš็†ฑไธญ็—‡ใ‚’ๅฎนๆ˜“ใซ็™บ็—‡ใ—็™บ็†ฑใ€่„ฑๅŠ›ๆ„Ÿใ€็–ฒๅŠดๆ„Ÿใ€ใ‚ใพใ„ใ€ๅ‹•ๆ‚ธใ•ใ‚‰ใซใฏๆ„่ญ˜้šœๅฎณใชใฉ้‡็ฏคใช็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅคใซใฏๅค–ๅ‡บใงใใชใใชใ‚‹ใชใฉใฎ็”Ÿๆดปใฎๅˆถ้™ใŒใ‚ใ‚ŠQOLใŒ่‘—ใ—ใๆใชใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†้กžใ•ใ‚Œๅ…ˆๅคฉๆ€ง็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใ€ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฎๅŽŸๅ› ใฏใ‚จใ‚ฏใƒชใƒณๆฑ—่…บใฎ็•ฐๅธธใ€ไบคๆ„Ÿ็ฅž็ตŒใฎ็•ฐๅธธใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใฎ็™บๆฑ—้šœๅฎณใจๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซใ€็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใชใๆฒป็™‚ใซ่‹ฆๆ…ฎใ™ใ‚‹็–พๆ‚ฃใงใ‚ใฃใŸใ€‚็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏใ€็‰น็™บๆ€งๅˆ†็ฏ€ๅž‹็„กๆฑ—็—‡ใจidiopathic pure sudomtor fairlure๏ผˆIPSF๏ผ‰ใชใฉใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใใฎ็—…ๆ…‹ใฏๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "1200636" ; - terms:source ; + + nando:hasNotificationNumber "163" ; + dcterms:description "็™บๆฑ—ใ‚’ไฟƒใ™็’ฐๅขƒไธ‹๏ผˆ้ซ˜ๆธฉใ€ๅคšๆนฟ๏ผ‰ใซใŠใ„ใฆใ‚‚ใ€็™บๆฑ—ใŒใฟใ‚‰ใ‚Œใชใ„็–พๆ‚ฃใ‚’็„กๆฑ—็—‡ใจใ„ใ†ใ€‚ใพใ‚Œใช็–พๆ‚ฃใง็™บ็—‡็Ž‡ใฏๆ˜Žใ‚‰ใ‹ใงใชใ„ใ€‚็„กๆฑ—ใฎใŸใ‚ใ€็šฎ่†šใฏไนพ็‡ฅใ—ใ€ๆ™‚ใซใฏใ‚ณใƒชใƒณๆ€ง่•้บป็–นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€้ซ˜ๆธฉใฎ็’ฐๅขƒไธ‹ใซใŠใ„ใฆไฝ“ๆธฉ่ชฟ็ฏ€ใŒใงใใš็†ฑไธญ็—‡ใ‚’ๅฎนๆ˜“ใซ็™บ็—‡ใ—็™บ็†ฑใ€่„ฑๅŠ›ๆ„Ÿใ€็–ฒๅŠดๆ„Ÿใ€ใ‚ใพใ„ใ€ๅ‹•ๆ‚ธใ•ใ‚‰ใซใฏๆ„่ญ˜้šœๅฎณใชใฉ้‡็ฏคใช็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅคใซใฏๅค–ๅ‡บใงใใชใใชใ‚‹ใชใฉใฎ็”Ÿๆดปใฎๅˆถ้™ใŒใ‚ใ‚ŠQOLใŒ่‘—ใ—ใๆใชใ‚ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†้กžใ•ใ‚Œๅ…ˆๅคฉๆ€ง็„กๆฑ—็—‡ใฏๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡ใ€ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฎๅŽŸๅ› ใฏใ‚จใ‚ฏใƒชใƒณๆฑ—่…บใฎ็•ฐๅธธใ€ไบคๆ„Ÿ็ฅž็ตŒใฎ็•ฐๅธธใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใฎ็™บๆฑ—้šœๅฎณใจๅŽŸๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซใ€็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏๆฒป็™‚ๆณ•ใ‚‚็ขบ็ซ‹ใ•ใ‚Œใฆใชใๆฒป็™‚ใซ่‹ฆๆ…ฎใ™ใ‚‹็–พๆ‚ฃใงใ‚ใฃใŸใ€‚็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡ใฏใ€็‰น็™บๆ€งๅˆ†็ฏ€ๅž‹็„กๆฑ—็—‡ใจidiopathic pure sudomtor fairlure๏ผˆIPSF๏ผ‰ใชใฉใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใใฎ็—…ๆ…‹ใฏๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200636" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acquired Idiopathic Generalized Anhidrosis"@en, "็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Idiopathic acquired systemic anhidrosis"@en, "Idiopathic pure sudomotor failure"@en ; + rdfs:label "Acquired idiopathic generalized anhidrosis"@en, "ใจใใฏใคใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AIGA"@en, "Idiopathic acquired systemic anhidrosis"@en, "Idiopathic pure sudomotor failure"@en ; skos:prefLabel "็‰น็™บๆ€งๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง็„กๆฑ—็—‡"@ja . -:1200637 - :hasNotificationNumber "164" ; - terms:description "ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซใฎ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใ€้’ใ‹ใ‚‰็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€่ฆ–ๅŠ›้šœๅฎณใ€็™ฝใ‹ใ‚‰่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200637" ; - terms:source ; - a owl:Class ; - rdfs:label "Oculocutaneous albinism"@en, "็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018910 ; + + nando:hasNotificationNumber "164" ; + dcterms:description "ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซใฎ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใ€้’ใ‹ใ‚‰็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€่ฆ–ๅŠ›้šœๅฎณใ€็™ฝใ‹ใ‚‰่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200637" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Oculocutaneous albinism"@en, "ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†"@ja-Hira, "็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "OCA"@en ; + skos:closeMatch obo:MONDO_0018910 ; skos:prefLabel "็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja . -:1200638 - :hasNotificationNumber "164" ; - terms:identifier "1200638" ; - terms:source ; + + nando:hasNotificationNumber "164" ; + dcterms:identifier "NANDO:1200638" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hermansky-Pudlak syndrome"@en, "ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019312 ; + rdfs:label "Hermansky-Pudlak syndrome"@en, "ใธใ‚‹ใพใ‚“ใ™ใใƒผใƒปใฑใฉใ‚‰ใฃใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HPS"@en, "Hermansky-Pudlak็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0019312 ; skos:prefLabel "ใƒ˜ใƒซใƒžใƒณใ‚นใ‚ญใƒผใƒปใƒ‘ใƒ‰ใƒฉใƒƒใ‚ฏ็—‡ๅ€™็พค"@ja . -:1200639 - :hasNotificationNumber "164" ; - terms:identifier "1200639" ; - terms:source ; + + nando:hasNotificationNumber "164" ; + dcterms:identifier "NANDO:1200639" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chรฉdiak-Higashi syndrome"@en, "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008963 ; + rdfs:label "Chรฉdiak-Higashi syndrome"@en, "ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CHS"@en ; + skos:closeMatch obo:MONDO_0008963 ; skos:prefLabel "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja . -:1200640 - :hasNotificationNumber "164" ; - terms:identifier "1200640" ; - terms:source ; + + nando:hasNotificationNumber "164" ; + dcterms:identifier "NANDO:1200640" ; + dcterms:source ; a owl:Class ; - rdfs:label "Griscelli syndrome"@en, "ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018306 ; + rdfs:label "Griscelli syndrome"@en, "ใใ‚Šใ›ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Griscelli็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018306 ; skos:prefLabel "ใ‚ฐใƒชใ‚ปใƒช็—‡ๅ€™็พค"@ja . -:1200641 - :hasNotificationNumber "164" ; - terms:identifier "1200641" ; - terms:source ; + + nando:hasNotificationNumber "164" ; + dcterms:identifier "NANDO:1200641" ; + dcterms:source ; a owl:Class ; - rdfs:label "non-syndromicย oculocutaneous albinism"@en, "้ž็—‡ๅ€™ๅž‹ใฎ็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Non-syndromic oculocutaneous albinism"@en, "ใฒใ—ใ‚‡ใ†ใ“ใ†ใŒใŸใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†"@ja-Hira, "้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "้ž็—‡ๅ€™ๆ€ง็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0018910 ; - skos:prefLabel "้ž็—‡ๅ€™ๅž‹ใฎ็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja . - -:1200642 - :hasNotificationNumber "165" ; - terms:description "ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽšๆ€งๅค‰ๅŒ–๏ผˆ้ ญ้ƒจ่„ณๅ›ž่ปข็Šถ็šฎ่†šใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1868ๅนดใ€FriedreichใŒ๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ใใฎๅพŒใ€็จฎใ€…ใฎๅ็งฐใงๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸๅฝ“่ฉฒ็–พๆ‚ฃใฏ1935ๅนดTouraineใ‚‰ใซใ‚ˆใฃใฆ่‡จๅบŠไบœๅž‹ใ‚’็”จใ„ใŸๆœฌ็—‡ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚"@ja ; - terms:identifier "1200642" ; - terms:source ; - a owl:Class ; - rdfs:label "Pachydermoperiostosis"@en, "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009799, mondo:MONDO_0016620 ; + skos:closeMatch obo:MONDO_0018910 ; + skos:prefLabel "้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja . + + + nando:hasNotificationNumber "165" ; + dcterms:description "ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽšๆ€งๅค‰ๅŒ–๏ผˆ้ ญ้ƒจ่„ณๅ›ž่ปข็Šถ็šฎ่†šใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1868ๅนดใ€FriedreichใŒ๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ใใฎๅพŒใ€็จฎใ€…ใฎๅ็งฐใงๅ ฑๅ‘Šใ•ใ‚ŒใฆใใŸๅฝ“่ฉฒ็–พๆ‚ฃใฏ1935ๅนดTouraineใ‚‰ใซใ‚ˆใฃใฆ่‡จๅบŠไบœๅž‹ใ‚’็”จใ„ใŸๆœฌ็—‡ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200642" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pachydermoperiostosis"@en, "ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ†"@ja-Hira, "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PDP"@en ; + skos:closeMatch obo:MONDO_0009799, obo:MONDO_0016620 ; skos:prefLabel "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja . -:1200643 - :hasNotificationNumber "166" ; - terms:description "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ๏ผˆPXE๏ผ‰ใฏใ€ๅผพๆ€ง็ทš็ถญใซๅค‰ๆ€งใƒป็Ÿณ็ฐๅŒ–ใŒ็”Ÿใ˜็ต„็น”้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใใฎใŸใ‚็šฎ่†šใ€็œผใ€ๅฟƒใƒป่ก€็ฎกใ€ๆถˆๅŒ–็ฎกใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200643" ; - terms:source ; - a owl:Class ; - rdfs:label "Pseudoxanthoma elasticum"@en, "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009925, mondo:MONDO_0024308 ; + + nando:hasNotificationNumber "166" ; + dcterms:description "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ๏ผˆPXE๏ผ‰ใฏใ€ๅผพๆ€ง็ทš็ถญใซๅค‰ๆ€งใƒป็Ÿณ็ฐๅŒ–ใŒ็”Ÿใ˜็ต„็น”้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใใฎใŸใ‚็šฎ่†šใ€็œผใ€ๅฟƒใƒป่ก€็ฎกใ€ๆถˆๅŒ–็ฎกใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200643" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pseudoxanthoma elasticum"@en, "ใ ใ‚“ใ›ใ„ใ›ใ‚“ใ„ใ›ใ„ใ‹ใ›ใ„ใŠใ†ใ—ใ‚‡ใใ—ใ‚…"@ja-Hira, "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PXE"@en, "PXE"@ja ; + skos:closeMatch obo:MONDO_0024308 ; skos:prefLabel "ๅผพๆ€ง็ทš็ถญๆ€งไปฎๆ€ง้ป„่‰ฒ่…ซ"@ja . -:1200644 - :hasNotificationNumber "167" ; - terms:description "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใ™ใ€‚"@ja ; - terms:identifier "1200644" ; - terms:source ; - a owl:Class ; - rdfs:label "Marfan's Syndrome"@en, "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Marfan syndrome"@en ; - skos:closeMatch mondo:MONDO_0007947 ; + + nando:hasNotificationNumber "167" ; + dcterms:description "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1200644" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Marfan syndrome"@en, "ใพใ‚‹ใตใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , , ; + rdfs:subClassOf ; + skos:altLabel "Marfan็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007947 ; skos:prefLabel "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค"@ja . -:1200645 - :hasNotificationNumber "168" ; - terms:description "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค๏ผˆEhlers-Danlos syndrome๏ผšEDS๏ผ‰ใฏใ€็šฎ่†šใ€้–ข็ฏ€ใ€่ก€็ฎกใชใฉๅ…จ่บซ็š„ใช็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใซๅŸบใฅใ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅŽŸๅ› ใจ็—‡็Šถใ‹ใ‚‰ใ€๏ผ–ใคใฎไธป็—…ๅž‹๏ผˆๅคๅ…ธๅž‹ใ€้–ข็ฏ€ๅž‹ใ€่ก€็ฎกๅž‹ใ€ๅพŒๅดๅฝŽๅž‹ใ€ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ€็šฎ่†š่„†ๅผฑๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ…จ็—…ๅž‹ใ‚’ๅˆใ‚ใ›ใŸๆŽจๅฎš้ ปๅบฆใฏ็ด„๏ผ‘/5,000ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆœ€่ฟ‘ใ€้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญ็ ”็ฉถ็ญใซใŠใ„ใฆ่ฆ‹ๅ‡บใ—ใ€็–พๆ‚ฃๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸใ€ŒD4ST1ๆฌ ๆใซๅŸบใฅใEDS๏ผˆDDEDS๏ผ‰ใ€ใ‚’ๅซใ‚ใ€ๆ–ฐใŸใช็—…ๅž‹ใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200645" ; + + nando:hasNotificationNumber "168" ; + dcterms:description "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค๏ผˆEhlers-Danlos syndrome๏ผšEDS๏ผ‰ใฏใ€็šฎ่†šใ€้–ข็ฏ€ใ€่ก€็ฎกใชใฉๅ…จ่บซ็š„ใช็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใซๅŸบใฅใ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅŽŸๅ› ใจ็—‡็Šถใ‹ใ‚‰ใ€๏ผ–ใคใฎไธป็—…ๅž‹๏ผˆๅคๅ…ธๅž‹ใ€้–ข็ฏ€ๅž‹ใ€่ก€็ฎกๅž‹ใ€ๅพŒๅดๅฝŽๅž‹ใ€ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ€็šฎ่†š่„†ๅผฑๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ…จ็—…ๅž‹ใ‚’ๅˆใ‚ใ›ใŸๆŽจๅฎš้ ปๅบฆใฏ็ด„๏ผ‘/5,000ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆœ€่ฟ‘ใ€้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญ็ ”็ฉถ็ญใซใŠใ„ใฆ่ฆ‹ๅ‡บใ—ใ€็–พๆ‚ฃๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸใ€ŒD4ST1ๆฌ ๆใซๅŸบใฅใEDS๏ผˆDDEDS๏ผ‰ใ€ใ‚’ๅซใ‚ใ€ๆ–ฐใŸใช็—…ๅž‹ใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200645" ; a owl:Class ; - rdfs:label "Ehlers-Danlos Syndrome"@en, "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020066 ; + rdfs:label "Ehlers-Danlos Syndrome"@en, "ใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "EDS"@en ; + skos:closeMatch obo:MONDO_0020066 ; skos:prefLabel "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200646 - :hasNotificationNumber "168" ; - terms:identifier "1200646" ; - terms:source ; + + nando:hasNotificationNumber "168" ; + dcterms:identifier "NANDO:1200646" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ehlers-Danlos syndrome, classic type"@en, "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Ehlers-Danlos Syndrome (Classical type)"@en ; - skos:closeMatch mondo:MONDO_0007522 ; + rdfs:label "Ehlers-Danlos syndrome, classical type"@en, "ใ“ใฆใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "classical EDS"@en ; + skos:closeMatch obo:MONDO_0007522 ; skos:prefLabel "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200647 - :hasNotificationNumber "168" ; - terms:identifier "1200647" ; - terms:source ; + + nando:hasNotificationNumber "168" ; + dcterms:identifier "NANDO:1200647" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ehlers-Danlos syndrome, hypermobility type"@en, "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Ehlers-Danlos Syndrome (Hypermobility type)"@en ; - skos:closeMatch mondo:MONDO_0007523 ; + rdfs:label "Ehlers-Danlos syndrome, hypermobility type"@en, "ใ‹ใ‚“ใ›ใคใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Hypermobile EDS"@en ; + skos:closeMatch obo:MONDO_0007523 ; skos:prefLabel "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200648 - :hasNotificationNumber "168" ; - terms:identifier "1200648" ; - terms:source ; + + nando:hasNotificationNumber "168" ; + dcterms:identifier "NANDO:1200648" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ehlers-Danlos syndrome, vascular type"@en, "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Ehlers-Danlos Syndrome (Vascular type)"@en ; - skos:closeMatch mondo:MONDO_0007524, mondo:MONDO_0017314 ; + rdfs:label "Ehlers-Danlos syndrome, vascular type"@en, "ใ‘ใฃใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Vascular EDS"@en ; + skos:closeMatch obo:MONDO_0017314 ; skos:prefLabel "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200649 - :hasNotificationNumber "168" ; - terms:identifier "1200649" ; - terms:source ; + + nando:hasNotificationNumber "168" ; + dcterms:identifier "NANDO:1200649" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ehlers-Danlos syndrome, kyphoscoliotic type"@en, "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Ehlers-Danlos Syndrome (Kyphoscoliosis tyep)"@en ; - skos:closeMatch mondo:MONDO_0016002 ; + rdfs:label "Ehlers-Danlos syndrome, kyphoscoliotic type"@en, "ใ“ใ†ใใใ‚ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Kyphoscoliosis EDS"@en ; + skos:closeMatch obo:MONDO_0016002, obo:MONDO_0034024 ; skos:prefLabel "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200650 - :hasNotificationNumber "168" ; - terms:identifier "1200650" ; - terms:source ; + + nando:hasNotificationNumber "168" ; + dcterms:identifier "NANDO:1200650" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ehlers-Danlos syndrome, arthrochalasis type"@en, "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Ehlers-Danlos Syndrome (Arthrochalasia type)"@en ; - skos:closeMatch mondo:MONDO_0007525, mondo:MONDO_0009159 ; + rdfs:label "Ehlers-Danlos syndrome, arthrochalasis type"@en, "ใŸใฏใคใ‹ใ‚“ใ›ใคใ—ใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Arthrochalasia EDS"@en ; + skos:closeMatch obo:MONDO_0007525 ; skos:prefLabel "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200651 - :hasNotificationNumber "168" ; - terms:identifier "1200651" ; - terms:source ; + + nando:hasNotificationNumber "168" ; + dcterms:identifier "NANDO:1200651" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ehlers-Danlos syndrome, dermatosparaxis type"@en, "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Ehlers-Danlos Syndrome (Dermatosparaxis type)"@en ; - skos:closeMatch mondo:MONDO_0009161 ; + rdfs:label "Ehlers-Danlos syndrome, dermatosparaxis type"@en, "ใฒใตใœใ„ใ˜ใ‚ƒใใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Dermatosparaxis EDS"@en ; + skos:closeMatch obo:MONDO_0009161 ; skos:prefLabel "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200652 - :hasNotificationNumber "168" ; - terms:identifier "1200652" ; - terms:source ; + + nando:hasNotificationNumber "168" ; + dcterms:identifier "NANDO:1200652" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome"@en, "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome"@en, "ใงใ‚‹ใพใŸใ‚“4ใŠใƒผใ‚Šใ‚…ใ†ใ•ใ‚“ใใฆใ‚“ใ„ใ“ใ†ใ1ใ‘ใฃใใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011142 ; skos:prefLabel "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:1200653 - :hasNotificationNumber "169" ; - terms:description "ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฏใ€้Š…่ผธ้€ATPaseใฎ๏ผ‘ใคใงใ‚ใ‚‹ATP7A้บไผๅญ็•ฐๅธธใงใ€XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใฎใงใ€ๆ‚ฃ่€…ใฏๅŽŸๅ‰‡็”ทๅ…ใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใงใฎ้Š…่ผธ้€้šœๅฎณใฎใŸใ‚ใ€ๆ‘‚ๅ–ใ—ใŸ้Š…ใฏ่…ธ็ฒ˜่†œใซ่“„็ฉใ—ใ€ไฝ“ๅ†…ใซ่ผธ้€ใ•ใ‚Œใชใ„ใ€‚ใใฎ็ตๆžœใ€้‡็ฏคใช้Š…ๆฌ ไนใซใ‚ˆใ‚Šใ€้Š…้…ต็ด ๆดปๆ€งใŒไฝŽไธ‹ใ—ใ€้‡ๅบฆใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ€่ก€็ฎก็•ฐๅธธใƒป่†€่ƒฑๆ†ฉๅฎคใƒป้ชจ็ฒ—้ฌ†็—‡็ญ‰ใฎ็ตๅˆ็น”็•ฐๅธธใ€็‰นๅพด็š„้ ญ้ซช็•ฐๅธธใชใฉใŒๅ‡บ็พใ™ใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏๆฏไฝ“็”ฑๆฅใฎ้Š…ใŒๆถˆๅคฑใ™ใ‚‹็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ใ‹ๆœˆใ‹ใ‚‰ใฏ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใƒ’ใ‚นใƒใ‚ธใƒณ้Š…ใฎ็šฎไธ‹ๆณจๅฐ„ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆฒป็™‚้–‹ๅง‹ใŒ็ฅž็ตŒ็—‡็Šถๅ‡บ็พๅพŒใงใฏ็ฅž็ตŒ้šœๅฎณใซๅฏพใ—ใฆๅ…จใๅŠนๆžœใŒใชใ„ใ€‚"@ja ; - terms:identifier "1200653" ; - terms:source ; - a owl:Class ; - rdfs:label "Menkes' Disease"@en, "ใƒกใƒณใ‚ฑใ‚น็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Menkes disease"@en ; - skos:closeMatch mondo:MONDO_0010651 ; + + nando:hasNotificationNumber "169" ; + dcterms:description "ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฏใ€้Š…่ผธ้€ATPaseใฎ๏ผ‘ใคใงใ‚ใ‚‹ATP7A้บไผๅญ็•ฐๅธธใงใ€XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใฎใงใ€ๆ‚ฃ่€…ใฏๅŽŸๅ‰‡็”ทๅ…ใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใงใฎ้Š…่ผธ้€้šœๅฎณใฎใŸใ‚ใ€ๆ‘‚ๅ–ใ—ใŸ้Š…ใฏ่…ธ็ฒ˜่†œใซ่“„็ฉใ—ใ€ไฝ“ๅ†…ใซ่ผธ้€ใ•ใ‚Œใชใ„ใ€‚ใใฎ็ตๆžœใ€้‡็ฏคใช้Š…ๆฌ ไนใซใ‚ˆใ‚Šใ€้Š…้…ต็ด ๆดปๆ€งใŒไฝŽไธ‹ใ—ใ€้‡ๅบฆใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ€่ก€็ฎก็•ฐๅธธใƒป่†€่ƒฑๆ†ฉๅฎคใƒป้ชจ็ฒ—้ฌ†็—‡็ญ‰ใฎ็ตๅˆ็น”็•ฐๅธธใ€็‰นๅพด็š„้ ญ้ซช็•ฐๅธธใชใฉใŒๅ‡บ็พใ™ใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏๆฏไฝ“็”ฑๆฅใฎ้Š…ใŒๆถˆๅคฑใ™ใ‚‹็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ใ‹ๆœˆใ‹ใ‚‰ใฏ็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใƒ’ใ‚นใƒใ‚ธใƒณ้Š…ใฎ็šฎไธ‹ๆณจๅฐ„ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆฒป็™‚้–‹ๅง‹ใŒ็ฅž็ตŒ็—‡็Šถๅ‡บ็พๅพŒใงใฏ็ฅž็ตŒ้šœๅฎณใซๅฏพใ—ใฆๅ…จใๅŠนๆžœใŒใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200653" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Menkes disease"@en, "ใ‚ใ‚“ใ‘ใ™ใณใ‚‡ใ†"@ja-Hira, "ใƒกใƒณใ‚ฑใ‚น็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010651 ; skos:prefLabel "ใƒกใƒณใ‚ฑใ‚น็—…"@ja . -:1200654 - :hasNotificationNumber "170" ; - terms:description "ๆœฌ็—‡ใฏATP7A้บไผๅญ็•ฐๅธธ็—‡ใงใ€ๅŒใ˜้บไผๅญ็•ฐๅธธ็–พๆ‚ฃใงใ‚ใ‚‹ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฎๆฅต่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€ๆœฌ็—‡ใฎๅๅ‰ใฎ็”ฑๆฅใซใชใฃใฆใ„ใ‚‹ใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚‹็ตๅˆ็น”็•ฐๅธธใŒไธป็—‡็Šถใงใ€็šฎ่†š้Žไผธๅฑ•ใ€่ก€็ฎก็•ฐๅธธใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€่†€่ƒฑๆ†ฉๅฎคใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๅคšใใฏๅญฆ็ซฅๆœŸไปฅ้™ใ€็Ÿฅ่ƒฝ้šœๅฎณใฏ่ปฝๅบฆ๏ฝžๆญฃๅธธใงใ‘ใ„ใ‚Œใ‚“ใฏใชใ„ใ€้ ญ้ซช็•ฐๅธธใฏ่ฆ‹ใ‚‰ใ‚Œใชใ„ใชใฉใฎ็‚นใŒใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใจ็•ฐใชใ‚Šใ€็พๆ™‚็‚นใงใฏไธก่€…ใ‚’็ตฑไธ€็š„ใซๅ–ใ‚Šๆ‰ฑใ†็–พๆ‚ฃๆฆ‚ๅฟตใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚็พๅœจๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€็™บ็—‡ใฏๅŽŸๅ‰‡็”ทๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200654" ; - terms:source ; + + nando:hasNotificationNumber "170" ; + dcterms:description "ๆœฌ็—‡ใฏATP7A้บไผๅญ็•ฐๅธธ็—‡ใงใ€ๅŒใ˜้บไผๅญ็•ฐๅธธ็–พๆ‚ฃใงใ‚ใ‚‹ใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใฎๆฅต่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€ๆœฌ็—‡ใฎๅๅ‰ใฎ็”ฑๆฅใซใชใฃใฆใ„ใ‚‹ใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚‹็ตๅˆ็น”็•ฐๅธธใŒไธป็—‡็Šถใงใ€็šฎ่†š้Žไผธๅฑ•ใ€่ก€็ฎก็•ฐๅธธใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€่†€่ƒฑๆ†ฉๅฎคใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๅคšใใฏๅญฆ็ซฅๆœŸไปฅ้™ใ€็Ÿฅ่ƒฝ้šœๅฎณใฏ่ปฝๅบฆ๏ฝžๆญฃๅธธใงใ‘ใ„ใ‚Œใ‚“ใฏใชใ„ใ€้ ญ้ซช็•ฐๅธธใฏ่ฆ‹ใ‚‰ใ‚Œใชใ„ใชใฉใฎ็‚นใŒใƒกใƒณใ‚ฑใ‚น๏ผˆMenkes๏ผ‰็—…ใจ็•ฐใชใ‚Šใ€็พๆ™‚็‚นใงใฏไธก่€…ใ‚’็ตฑไธ€็š„ใซๅ–ใ‚Šๆ‰ฑใ†็–พๆ‚ฃๆฆ‚ๅฟตใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใ€‚็พๅœจๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€็™บ็—‡ใฏๅŽŸๅ‰‡็”ทๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200654" ; + dcterms:source ; a owl:Class ; - rdfs:label "Occipital horn syndrome"@en, "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010572 ; + rdfs:label "Occipital horn syndrome"@en, "ใŠใใ—ใดใŸใ‚‹ใƒปใปใƒผใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010572 ; skos:prefLabel "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค"@ja . -:1200655 - :hasNotificationNumber "171" ; - terms:description "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใง้บไผใ™ใ‚‹่ƒ†ๆฑไธญใธใฎ้Š…ๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง้Š…้Žๅ‰ฐ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200655" ; - terms:source ; - a owl:Class ; - rdfs:label "Wilson's Disease"@en, "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Wilson disease"@en ; - skos:closeMatch mondo:MONDO_0010200 ; + + nando:hasNotificationNumber "171" ; + dcterms:description "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใง้บไผใ™ใ‚‹่ƒ†ๆฑไธญใธใฎ้Š…ๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง้Š…้Žๅ‰ฐ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200655" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Wilson disease"@en, "ใ†ใƒใ‚‹ใใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Wilson็—…"@ja ; + skos:closeMatch obo:MONDO_0010200 ; skos:prefLabel "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…"@ja . -:1200656 - :hasNotificationNumber "172" ; - terms:description "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ใฏใ€้ชจใƒฌใƒณใƒˆใ‚ฒใƒณๆคœๆŸปใง้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ€่ก€ๆถฒๆคœๆŸปใง่ก€ๆธ…ใ‚ขใƒซใ‚ซใƒชใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰ๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ALPใฎๆดปๆ€งไฝŽไธ‹ใซใจใ‚‚ใชใ„่“„็ฉใ™ใ‚‹ใƒ”ใƒญใƒชใƒณ้…ธใŒ็Ÿณ็ฐๅŒ–ใ‚’้šœๅฎณใ™ใ‚‹ใ“ใจใ‚„ใ€ๅฑ€ๆ‰€ใฎใƒชใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ALPใฎๅŸบ่ณชใงใ‚ใ‚‹phosphoethanolamine, inorganic pyrophosphate๏ผˆใƒ”ใƒญใƒชใƒณ้…ธ๏ผ‰, pyridoxal 5'-phosphateใฎไธŠๆ˜‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใŒใ€็จ€ใซๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200656" ; - terms:source ; + + nando:hasNotificationNumber "172" ; + dcterms:description "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡ใฏใ€้ชจใƒฌใƒณใƒˆใ‚ฒใƒณๆคœๆŸปใง้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ€่ก€ๆถฒๆคœๆŸปใง่ก€ๆธ…ใ‚ขใƒซใ‚ซใƒชใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰ๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ALPใฎๆดปๆ€งไฝŽไธ‹ใซใจใ‚‚ใชใ„่“„็ฉใ™ใ‚‹ใƒ”ใƒญใƒชใƒณ้…ธใŒ็Ÿณ็ฐๅŒ–ใ‚’้šœๅฎณใ™ใ‚‹ใ“ใจใ‚„ใ€ๅฑ€ๆ‰€ใฎใƒชใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€ใใ‚‹็—…ๆง˜ๅค‰ๅŒ–ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ALPใฎๅŸบ่ณชใงใ‚ใ‚‹phosphoethanolamine, inorganic pyrophosphate๏ผˆใƒ”ใƒญใƒชใƒณ้…ธ๏ผ‰, pyridoxal 5'-phosphateใฎไธŠๆ˜‡ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้€šๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใŒใ€็จ€ใซๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200656" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypophosphatasia"@en, "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018570 ; + rdfs:label "Hypophosphatasia"@en, "ใฆใ„ใปใ™ใตใใŸใƒผใœใ—ใ‚‡ใ†"@ja-Hira, "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018570 ; skos:prefLabel "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡"@ja . -:1200657 - :hasNotificationNumber "173" ; - terms:description "VATER็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ• ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200657" ; - terms:source ; + + nando:hasNotificationNumber "173" ; + dcterms:description "VATER็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ• ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200657" ; + dcterms:source ; a owl:Class ; - rdfs:label "VATER syndrome"@en, "VATER็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "VATER syndrome"@en, "VATER็—‡ๅ€™็พค"@ja, "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผใตใใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "VATER association"@en ; - skos:closeMatch mondo:MONDO_0008642 ; + skos:closeMatch obo:MONDO_0008642 ; skos:prefLabel "VATER็—‡ๅ€™็พค"@ja . -:1200658 - :hasNotificationNumber "174" ; - terms:description "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…๏ผˆNasu-Hakola disease๏ผ‰ใฏใ€ๅคš็™บๆ€ง้ชจๅšข่ƒžใซใ‚ˆใ‚‹็—…็š„้ชจๆŠ˜ใจ็™ฝ่ณช่„ณ็—‡ใซใ‚ˆใ‚‹่‹ฅๅนดๆ€ง่ช็Ÿฅ็—‡ใ‚’ไธปๅพดใจใ—ใ€DAP12๏ผˆTYROBP๏ผ‰้บไผๅญๅˆใฏTREM2้บไผๅญใฎๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1970ๅนดไปฃใซใ€้‚ฃ้ ˆๆฏ…ๅšๅฃซใจHakolaๅšๅฃซใซใ‚ˆใ‚Š็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œใ€polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ๏ผˆPLOSL๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏๆœฌ้‚ฆใจๅŒ—ๆฌง๏ผˆใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰๏ผ‰ใซ้›†็ฉใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ‚ฃ่€…ๆ•ฐใฏ็ด„200ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200658" ; - terms:source ; + + nando:hasNotificationNumber "174" ; + dcterms:description "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…๏ผˆNasu-Hakola disease๏ผ‰ใฏใ€ๅคš็™บๆ€ง้ชจๅšข่ƒžใซใ‚ˆใ‚‹็—…็š„้ชจๆŠ˜ใจ็™ฝ่ณช่„ณ็—‡ใซใ‚ˆใ‚‹่‹ฅๅนดๆ€ง่ช็Ÿฅ็—‡ใ‚’ไธปๅพดใจใ—ใ€DAP12๏ผˆTYROBP๏ผ‰้บไผๅญๅˆใฏTREM2้บไผๅญใฎๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1970ๅนดไปฃใซใ€้‚ฃ้ ˆๆฏ…ๅšๅฃซใจHakolaๅšๅฃซใซใ‚ˆใ‚Š็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œใ€polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ๏ผˆPLOSL๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏๆœฌ้‚ฆใจๅŒ—ๆฌง๏ผˆใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰๏ผ‰ใซ้›†็ฉใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ‚ฃ่€…ๆ•ฐใฏ็ด„200ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200658" ; + dcterms:source ; a owl:Class ; - rdfs:label "Nasu-Hakola disease"@en, "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009092 ; + rdfs:label "Nasu-Hakola disease"@en, "ใชใ™ใƒปใฏใ“ใ‚‰ใณใ‚‡ใ†"@ja-Hira, "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009092 ; skos:prefLabel "้‚ฃ้ ˆใƒปใƒใ‚ณใƒฉ็—…"@ja . -:1200659 - :hasNotificationNumber "175" ; - terms:description "ใ‚ฆใ‚ฃใƒผใƒใƒผ๏ผˆWeaver๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€่ปฝๅบฆ๏ฝžไธญ็ญ‰ๅบฆใฎ็™บ้”ใฎ้…ใ‚Œใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใปใ‹ใซใ€ๅคง้ ญ็—‡ใ€ไฝŽใ„ๆณฃใๅฃฐใ€ๅฐ้กŽ็—‡ใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใ€ๆŒ‡ใƒปๅ››่‚ข้–ข็ฏ€ไผธๅฑ•ใƒปๆ‹˜็ธฎ๏ผŒไฝ™ๅ‰ฐ็šฎ่†šใ€็ดฐใ็ฒ—ใชๆฏ›้ซชใชใฉใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200659" ; - terms:source ; + + nando:hasNotificationNumber "175" ; + dcterms:description "ใ‚ฆใ‚ฃใƒผใƒใƒผ๏ผˆWeaver๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€่ปฝๅบฆ๏ฝžไธญ็ญ‰ๅบฆใฎ็™บ้”ใฎ้…ใ‚Œใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใปใ‹ใซใ€ๅคง้ ญ็—‡ใ€ไฝŽใ„ๆณฃใๅฃฐใ€ๅฐ้กŽ็—‡ใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใ€ๆŒ‡ใƒปๅ››่‚ข้–ข็ฏ€ไผธๅฑ•ใƒปๆ‹˜็ธฎ๏ผŒไฝ™ๅ‰ฐ็šฎ่†šใ€็ดฐใ็ฒ—ใชๆฏ›้ซชใชใฉใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200659" ; + dcterms:source ; a owl:Class ; - rdfs:label "Weaver syndrome"@en, "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010193 ; + rdfs:label "Weaver syndrome"@en, "ใ†ใƒใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Weaver็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010193 ; skos:prefLabel "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค"@ja . -:1200660 - :hasNotificationNumber "176" ; - terms:description "็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฐ้ ญ็—‡ใ€ๅ…ˆ็ดฐใ‚ŠใฎๆŒ‡ใชใฉ้ชจๆ ผ็ณปใฎ็‰นๅพดใ‚’ๆœ‰ใ—ใ€้Ÿณใ‚„่งฆ่ฆšใชใฉใฎๆ€ฅใชๅˆบๆฟ€ใงๆ„่ญ˜ๆถˆๅคฑใ‚’ไผดใ‚ใชใ„่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200660" ; - terms:source ; + + nando:hasNotificationNumber "176" ; + dcterms:description "็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฐ้ ญ็—‡ใ€ๅ…ˆ็ดฐใ‚ŠใฎๆŒ‡ใชใฉ้ชจๆ ผ็ณปใฎ็‰นๅพดใ‚’ๆœ‰ใ—ใ€้Ÿณใ‚„่งฆ่ฆšใชใฉใฎๆ€ฅใชๅˆบๆฟ€ใงๆ„่ญ˜ๆถˆๅคฑใ‚’ไผดใ‚ใชใ„่„ฑๅŠ›็™บไฝœใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200660" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coffin-Lowry syndrome"@en, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010561 ; + rdfs:label "Coffin-Lowry syndrome"@en, "ใ“ใตใƒใ‚“ใƒปใ‚ใƒผใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Coffin-Lowry็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010561 ; skos:prefLabel "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค"@ja . -:1200661 - :hasNotificationNumber "177" ; - terms:description "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€1969ๅนดใซๅฐ่„ณ่™ซ้ƒจๆฌ ๆใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅคฑ่ชฟใ€็™บ้”ใฎ้…ใ‚Œใ€็œผ็ƒ้‹ๅ‹•็•ฐๅธธใชใฉใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็ถฒ่†œ็•ฐๅธธใ€่…Žๅšข่ƒžใ€่‚้šœๅฎณใ€ๅฃ่…”ๅ‘จๅ›ฒใ€ๆŒ‡๏ผˆ่ถพ๏ผ‰ใชใฉใฎๅน…ๅบƒใ„่‡จๅบŠ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ็–พๆ‚ฃ็พคใซใฏๆ”พๅฐ„็ทšๅญฆ็š„ใช่„ณๅนนใฎๅฝขๆˆ็•ฐๅธธ๏ผˆMTS: Molar Tooth Sign๏ผ‰ใ‚’ๅ…ฑ้€šใซๆœ‰ใ™ใ‚‹็‰นๅพดใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚ใใฎใŸใ‚ใ€ใ“ใฎใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใ‚’ๅซใ‚€ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใ‚’ใ€ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใจใใฎ้–ข้€ฃ็–พๆ‚ฃ๏ผˆJSRD๏ผ‰ใจๅ‘ผใถใ‚ˆใ†ใซใชใฃใŸใ€‚ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅŽŸๅ› ้บไผๅญใฎ้•ใ„ใ‹ใ‚‰28ไบœๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹๏ผˆJBTS1 (OMIM: 213300)ใ€œJBTS28๏ผˆOMIM: 617121๏ผ‰๏ผ‰ใ€‚ใใฎ่‡จๅบŠ็š„็‰นๅพดใฏใ€่„ณ็”ปๅƒใฎMTSใจใ€ๆง˜ใ€…ใช็จ‹ๅบฆใซ็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚JSRDใซใฏใ€ๆœ‰้ฆฌ็—‡ๅ€™็พค๏ผˆOMIM: 243910๏ผ‰ใ€ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค๏ผˆOMIM: 266900๏ผ‰ใ€COACH็—‡ๅ€™็พค๏ผˆOMIM: 216360๏ผ‰ใ€ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค๏ผˆOMIM: 258860๏ผ‰ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใงใฏใ€็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅˆไฝตใ—ใ€ๆˆไบบใงใฏใ€่…Žไธๅ…จใฎใŸใ‚่…Ž้€ๆžใชใ„ใ—่…Ž็งปๆคใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏ1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž๏ผˆใƒใƒ•ใƒญใƒณ็™†๏ผ‰ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€่…Ž้€ๆžใชใฉใ‚’่กŒใ‚ใชใ„ใจๅฐๅ…ๆœŸใพใงใซๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พคใงใฏใ€Leberๅ…ˆๅคฉ็›ฒใ€็ถฒ่†œๅค‰ๆ€ง็—‡ใ€ใƒใƒ•ใƒญใƒณ็™†ใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸใ‚ˆใ‚Šๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่ฆ–่ฆš้šœๅฎณ๏ผˆๅคฑๆ˜Žใ‚’ๅซใ‚€ใ€‚๏ผ‰ใจ่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚COACH็—‡ๅ€™็พคใงใฏใ€็ฒพ็ฅž้…ๆปžใ€ๅฐ่„ณๅคฑ่ชฟใ€่„ˆ็ตก่†œๆฌ ๆใ€่‚็ทš็ถญ็—‡ใ‚’ๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่‚็ทš็ถญ็—‡ใซใ‚ˆใ‚‹้™่„ˆ็˜คใฎๅ‡บ่ก€ใ‚„่‚ไธๅ…จใ€่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใงใฏใ€ๅฃ่“‹่ฃ‚ใชใฉใฎๅฃ่…”็•ฐๅธธใ€้ก”้ขใจๆŒ‡๏ผˆ่ถพ๏ผ‰ๅฅ‡ๅฝขใ€ๅบƒ็ฏ„ใช่„ณๅฝขๆˆ็•ฐๅธธ๏ผˆๅ…จๅ‰่„ณ่ƒž็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚„ไธ‹ๅž‚ไฝ“ใฎ็•ฐๅฝขๆˆ๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๆˆไบบใงใฏ็Ÿฅ็š„้šœๅฎณใซ่ตทๅ› ใ™ใ‚‹็”Ÿๆดปๆ”ฏๆดใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใฎไธ€้ƒจใฏXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ไป–ใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200661" ; - terms:source ; + + nando:hasNotificationNumber "177" ; + dcterms:description "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€1969ๅนดใซๅฐ่„ณ่™ซ้ƒจๆฌ ๆใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅคฑ่ชฟใ€็™บ้”ใฎ้…ใ‚Œใ€็œผ็ƒ้‹ๅ‹•็•ฐๅธธใชใฉใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็ถฒ่†œ็•ฐๅธธใ€่…Žๅšข่ƒžใ€่‚้šœๅฎณใ€ๅฃ่…”ๅ‘จๅ›ฒใ€ๆŒ‡๏ผˆ่ถพ๏ผ‰ใชใฉใฎๅน…ๅบƒใ„่‡จๅบŠ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ็–พๆ‚ฃ็พคใซใฏๆ”พๅฐ„็ทšๅญฆ็š„ใช่„ณๅนนใฎๅฝขๆˆ็•ฐๅธธ๏ผˆMTS: Molar Tooth Sign๏ผ‰ใ‚’ๅ…ฑ้€šใซๆœ‰ใ™ใ‚‹็‰นๅพดใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใŸใ€‚ใใฎใŸใ‚ใ€ใ“ใฎใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใ‚’ๅซใ‚€ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใ‚’ใ€ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใจใใฎ้–ข้€ฃ็–พๆ‚ฃ๏ผˆJSRD๏ผ‰ใจๅ‘ผใถใ‚ˆใ†ใซใชใฃใŸใ€‚ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅŽŸๅ› ้บไผๅญใฎ้•ใ„ใ‹ใ‚‰28ไบœๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹๏ผˆJBTS1 (OMIM: 213300)ใ€œJBTS28๏ผˆOMIM: 617121๏ผ‰๏ผ‰ใ€‚ใใฎ่‡จๅบŠ็š„็‰นๅพดใฏใ€่„ณ็”ปๅƒใฎMTSใจใ€ๆง˜ใ€…ใช็จ‹ๅบฆใซ็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏใ€่‚้šœๅฎณใ€่…Ž้šœๅฎณใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚JSRDใซใฏใ€ๆœ‰้ฆฌ็—‡ๅ€™็พค๏ผˆOMIM: 243910๏ผ‰ใ€ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค๏ผˆOMIM: 266900๏ผ‰ใ€COACH็—‡ๅ€™็พค๏ผˆOMIM: 216360๏ผ‰ใ€ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค๏ผˆOMIM: 258860๏ผ‰ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใงใฏใ€็Ÿฅ็š„้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅˆไฝตใ—ใ€ๆˆไบบใงใฏใ€่…Žไธๅ…จใฎใŸใ‚่…Ž้€ๆžใชใ„ใ—่…Ž็งปๆคใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏ1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž๏ผˆใƒใƒ•ใƒญใƒณ็™†๏ผ‰ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€่…Ž้€ๆžใชใฉใ‚’่กŒใ‚ใชใ„ใจๅฐๅ…ๆœŸใพใงใซๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พคใงใฏใ€Leberๅ…ˆๅคฉ็›ฒใ€็ถฒ่†œๅค‰ๆ€ง็—‡ใ€ใƒใƒ•ใƒญใƒณ็™†ใ€่…Ž้šœๅฎณใ‚’ๅฐๅ…ๆœŸใ‚ˆใ‚Šๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่ฆ–่ฆš้šœๅฎณ๏ผˆๅคฑๆ˜Žใ‚’ๅซใ‚€ใ€‚๏ผ‰ใจ่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚COACH็—‡ๅ€™็พคใงใฏใ€็ฒพ็ฅž้…ๆปžใ€ๅฐ่„ณๅคฑ่ชฟใ€่„ˆ็ตก่†œๆฌ ๆใ€่‚็ทš็ถญ็—‡ใ‚’ๅˆไฝตใ—ใ€ๆˆไบบใงใฏ่‚็ทš็ถญ็—‡ใซใ‚ˆใ‚‹้™่„ˆ็˜คใฎๅ‡บ่ก€ใ‚„่‚ไธๅ…จใ€่…Žไธๅ…จใฎ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใงใฏใ€ๅฃ่“‹่ฃ‚ใชใฉใฎๅฃ่…”็•ฐๅธธใ€้ก”้ขใจๆŒ‡๏ผˆ่ถพ๏ผ‰ๅฅ‡ๅฝขใ€ๅบƒ็ฏ„ใช่„ณๅฝขๆˆ็•ฐๅธธ๏ผˆๅ…จๅ‰่„ณ่ƒž็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚„ไธ‹ๅž‚ไฝ“ใฎ็•ฐๅฝขๆˆ๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๆˆไบบใงใฏ็Ÿฅ็š„้šœๅฎณใซ่ตทๅ› ใ™ใ‚‹็”Ÿๆดปๆ”ฏๆดใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พคใฎไธ€้ƒจใฏXๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ไป–ใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200661" ; + dcterms:source ; a owl:Class ; - rdfs:label "Joubert Syndrome and related disorders"@en, "ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Joubert syndrome and related disorders"@en, "ใ˜ใ‚…ในใƒผใ‚‹ใ—ใฃใ‹ใ‚“ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Cerebro-oculo-hepato-renal syndrome"@en ; - skos:closeMatch mondo:MONDO_0009480, mondo:MONDO_0015369 ; + skos:closeMatch obo:MONDO_0015369 ; skos:prefLabel "ใ‚ธใƒฅใƒ™ใƒผใƒซ็–พๆ‚ฃ็พค้–ข้€ฃ็–พๆ‚ฃ"@ja . -:1200662 - :hasNotificationNumber "177" ; - terms:identifier "1200662" ; - terms:source ; + + nando:hasNotificationNumber "177" ; + dcterms:identifier "NANDO:1200662" ; + dcterms:source ; a owl:Class ; - rdfs:label "Arima syndrome"@en, "ๆœ‰้ฆฌ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009480 ; + rdfs:label "Arima syndrome"@en, "ใ‚ใ‚Šใพใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆœ‰้ฆฌ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009480 ; skos:prefLabel "ๆœ‰้ฆฌ็—‡ๅ€™็พค"@ja . -:1200663 - :hasNotificationNumber "178" ; - terms:description "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200663" ; - terms:source ; + + nando:hasNotificationNumber "178" ; + dcterms:description "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200663" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mowat Wilson Syndrome"@en, "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009341 ; + rdfs:label "Mowat-Wilson syndrome"@en, "ใ‚‚ใ‚ใฃใจใƒปใ†ใƒใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Mowat-Wilson็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009341 ; skos:prefLabel "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:1200664 - :hasNotificationNumber "179" ; - terms:description "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ๏ผˆWilliams๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ๅŠใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒใ€้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—ใ€็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„ใ€็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200664" ; - terms:source ; + + nando:hasNotificationNumber "179" ; + dcterms:description "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ๏ผˆWilliams๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ๅŠใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒใ€้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—ใ€็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„ใ€็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200664" ; + dcterms:source ; a owl:Class ; - rdfs:label "Williams syndrome"@en, "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008678 ; + rdfs:label "Williams syndrome"@en, "ใ†ใƒใ‚Šใ‚ใ‚€ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Williams็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008678 ; skos:prefLabel "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค"@ja . -:1200665 - :hasNotificationNumber "180" ; - terms:description "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พคใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พคใฎไธ€ใคใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข๏ผˆHbH็—…๏ผ‰ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200665" ; - terms:source ; - a owl:Class ; - rdfs:label "ATR-X syndrome"@en, "๏ผก๏ผด๏ผฒโˆ’๏ผธ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Alpha-thalassemia mental retardation syndrome"@en ; - skos:closeMatch mondo:MONDO_0007716, mondo:MONDO_0010519 ; - skos:prefLabel "๏ผก๏ผด๏ผฒโˆ’๏ผธ็—‡ๅ€™็พค"@ja . - -:1200666 - :hasNotificationNumber "181" ; - terms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200666" ; - terms:source ; - a owl:Class ; - rdfs:label "Crouzon's Syndrome"@en, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007405 ; + + nando:hasNotificationNumber "180" ; + dcterms:description "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พคใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พคใฎไธ€ใคใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข๏ผˆHbH็—…๏ผ‰ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200665" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ATR-X syndrome"@en, "ATR-X็—‡ๅ€™็พค"@ja, "ใˆใƒผใฆใƒใƒผใ‚ใƒผใ‚‹ใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Alpha-thalassemia/mental retardation syndrome"@en, "X-linked a-thalassemia/intellectual disability syndrome"@en, "X้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010519 ; + skos:prefLabel "ATR-X็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "181" ; + dcterms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200666" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crouzon's syndrome"@en, "ใใ‚‹ใƒผใžใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Crouzon syndrome"@en, "Crouzon็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007405 ; skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พค"@ja . -:1200667 - :hasNotificationNumber "182" ; - terms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200667" ; - terms:source ; + + nando:hasNotificationNumber "182" ; + dcterms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200667" ; + dcterms:source ; a owl:Class ; - rdfs:label "Apert syndrome"@en, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007041, mondo:MONDO_0019796 ; + rdfs:label "Apert syndrome"@en, "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Apert็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007041 ; skos:prefLabel "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค"@ja . -:1200668 - :hasNotificationNumber "183" ; - terms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200668" ; - terms:source ; + + nando:hasNotificationNumber "183" ; + dcterms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200668" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pfeiffer syndrome"@en, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005810, mondo:MONDO_0007043 ; + rdfs:label "Pfeiffer syndrome"@en, "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Pfeiffer็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0005810, obo:MONDO_0007043 ; skos:prefLabel "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค"@ja . -:1200669 - :hasNotificationNumber "184" ; - terms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200669" ; - terms:source ; + + nando:hasNotificationNumber "184" ; + dcterms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200669" ; + dcterms:source ; a owl:Class ; - rdfs:label "Antley-Bixler syndrome"@en, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Antley-Bixler syndrome"@en, "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Antley-Bixler Syndrome Phenotype"@en ; - skos:closeMatch mondo:MONDO_0008803 ; + skos:closeMatch obo:MONDO_0008803 ; skos:prefLabel "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค"@ja . -:1200670 - :hasNotificationNumber "185" ; - terms:description "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200670" ; - terms:source ; + + nando:hasNotificationNumber "185" ; + dcterms:description "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200670" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coffin-Siris Syndrome"@en, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007617, mondo:MONDO_0015452 ; + rdfs:label "Coffin-Siris syndrome"@en, "ใ“ใตใƒใ‚“ใƒปใ—ใ‚Šใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Coffin-Siris็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0015452 ; skos:prefLabel "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค"@ja . -:1200671 - :hasNotificationNumber "186" ; - terms:description "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พคใฏใ€ๅฐๆŸ„ใชไฝ“ๅž‹ใ€ๆ—ฅๅ…‰้Žๆ•ๆ€ง็ด…ๆ–‘ใ€ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ใ€้ชจๆ ผ็•ฐๅธธใ€่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผ็—…ใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พคใ€ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พคใŒใ‚ใ‚‹ใŒใ€ๅŒใ˜้บไผๅญๅบงใซ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰็พๆ™‚็‚นใงใฏๅฝ“่ฉฒ็–พๆ‚ฃใซๅซใ‚ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; - terms:identifier "1200671" ; - terms:source ; + + nando:hasNotificationNumber "186" ; + dcterms:description "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พคใฏใ€ๅฐๆŸ„ใชไฝ“ๅž‹ใ€ๆ—ฅๅ…‰้Žๆ•ๆ€ง็ด…ๆ–‘ใ€ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡ใ€้ชจๆ ผ็•ฐๅธธใ€่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผ็—…ใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พคใ€ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พคใŒใ‚ใ‚‹ใŒใ€ๅŒใ˜้บไผๅญๅบงใซ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใ‹ใ‚‰็พๆ™‚็‚นใงใฏๅฝ“่ฉฒ็–พๆ‚ฃใซๅซใ‚ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:1200671" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rothmund-Thomson syndrome"@en, "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010002 ; + rdfs:label "Rothmund-Thomson syndrome"@en, "ใ‚ใ™ใ‚€ใ‚“ใฉใƒปใจใ‚€ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010002 ; skos:prefLabel "ใƒญใ‚นใƒ ใƒณใƒ‰ใƒปใƒˆใƒ ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:1200672 - :hasNotificationNumber "187" ; - terms:description "1981ๅนดใซๆˆ‘ใŒๅ›ฝใง่ฆ‹ใ„ใ ใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๆญŒ่ˆžไผŽ็—‡ๅ€™็พคใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚Šใ€ๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000็จ‹ๅบฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๅญค็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใ‚ใฆๅฐ‘ๆ•ฐใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200672" ; - terms:source ; + + nando:hasNotificationNumber "187" ; + dcterms:description "1981ๅนดใซๆˆ‘ใŒๅ›ฝใง่ฆ‹ใ„ใ ใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๆญŒ่ˆžไผŽ็—‡ๅ€™็พคใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚Šใ€ๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000็จ‹ๅบฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๅญค็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใ‚ใฆๅฐ‘ๆ•ฐใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200672" ; + dcterms:source ; a owl:Class ; - rdfs:label "Kabuki syndrome"@en, "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007843, mondo:MONDO_0016512 ; + rdfs:label "Kabuki syndrome"@en, "ใ‹ใถใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016512 ; skos:prefLabel "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค"@ja . -:1200673 - :hasNotificationNumber "188" ; - terms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚"@ja ; - terms:identifier "1200673" ; - terms:source ; + + nando:hasNotificationNumber "188" ; + dcterms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200673" ; + dcterms:source ; a owl:Class ; - rdfs:label "Polysplenia syndrome"@en, "ๅคš่„พ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008832 ; + rdfs:label "Polysplenia syndrome"@en, "ใŸใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคš่„พ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:prefLabel "ๅคš่„พ็—‡ๅ€™็พค"@ja . -:1200674 - :hasNotificationNumber "189" ; - terms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚"@ja ; - terms:identifier "1200674" ; - terms:source ; + + nando:hasNotificationNumber "189" ; + dcterms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒๅˆใฏๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚ใใ‚Œใžใ‚Œใ‚’็„ก่„พ็—‡ๅ€™็พคๅˆใฏๅคš่„พ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใ“ใงใฏใ€ๅ†…่‡“ใŒๅทฆๅณๅ่ปขใ™ใ‚‹ๅ†…่‡“้€†ไฝใฏๅซใพใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚็„ก่„พ็—‡ๅ€™็พคใงใฏใ€้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚ๅคš่„พ็—‡ๅ€™็พคใงใฏ้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50๏ฝž90๏ผ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚้‡็—‡็ดฐ่Œๆ€งๆ„ŸๆŸ“็—‡๏ผˆ็‰นใซ่‚บ็‚ŽๅŒ็ƒ่Œ๏ผ‰ใซ็ฝนๆ‚ฃใ—ใ‚„ใ™ใใ€ๆ„ŸๆŸ“็—‡ใงใฎ็ช็„ถๆญปใ‚‚ใ‚ใ‚‹ใ€‚ๅˆไฝตใ™ใ‚‹ๅฟƒๅฅ‡ๅฝขใซใ‚ˆใ‚‹ใŒใ€ๅ˜ๅฟƒๆˆฟใ€ๅ˜ๅฟƒๅฎคใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็ต„ใฟๅˆใ‚ใ›ใŒๅคšใ้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ—ใ€็”Ÿๆถฏใ€ๅฟƒไธๅ…จใŒๆŒ็ถšใ—ใ€ไบˆๅพŒใŒๆ‚ชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200674" ; + dcterms:source ; a owl:Class ; - rdfs:label "Asplenia syndrome"@en, "็„ก่„พ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008832 ; + rdfs:label "Asplenia syndrome"@en, "ใ‚€ใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็„ก่„พ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "็„ก่„พ็—‡ๅ€™็พค"@ja . -:1200675 - :hasNotificationNumber "190" ; - terms:description "้ฐ“่€ณ่…Ž๏ผˆBranchio-oto-renal๏ผšBOR๏ผ‰็—‡ๅ€™็พคใฏใ€้ ธ็˜ปใƒป่€ณ็˜ปๅญ”ใƒปๅค–่€ณๅฅ‡ๅฝขใชใฉใฎ้ฐ“ๅŽŸๆ€งๅฅ‡ๅฝขใ€ๆง˜ใ€…ใชใ‚ฟใ‚คใƒ—ใฎ้›ฃ่ดใ€่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ™‚ใซ้ก”้ข็ฅž็ตŒ้บป็—บใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใŒใ€ไธ€่ˆฌใซ็Ÿฅ็š„็™บ้”ใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ้›ฃ่ดใธใฎๆ—ฉๆœŸไป‹ๅ…ฅใŒๆ‚ฃ่€…ใฎ่จ€่ชž็™บ้”ใ‚’ๆ”นๅ–„ใ—ใ€ใพใŸ่…Ž็—‡็Šถใฎ้‡็—‡ๅบฆใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200675" ; - terms:source ; - a owl:Class ; - rdfs:label "Branchio-oto-renal syndrome"@en, "้ฐ“่€ณ่…Ž็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "BOR syndrome"@en ; - skos:closeMatch mondo:MONDO_0007029, mondo:MONDO_0018878 ; + + nando:hasNotificationNumber "190" ; + dcterms:description "้ฐ“่€ณ่…Ž๏ผˆBranchio-oto-renal๏ผšBOR๏ผ‰็—‡ๅ€™็พคใฏใ€้ ธ็˜ปใƒป่€ณ็˜ปๅญ”ใƒปๅค–่€ณๅฅ‡ๅฝขใชใฉใฎ้ฐ“ๅŽŸๆ€งๅฅ‡ๅฝขใ€ๆง˜ใ€…ใชใ‚ฟใ‚คใƒ—ใฎ้›ฃ่ดใ€่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ™‚ใซ้ก”้ข็ฅž็ตŒ้บป็—บใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใŒใ€ไธ€่ˆฌใซ็Ÿฅ็š„็™บ้”ใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ้›ฃ่ดใธใฎๆ—ฉๆœŸไป‹ๅ…ฅใŒๆ‚ฃ่€…ใฎ่จ€่ชž็™บ้”ใ‚’ๆ”นๅ–„ใ—ใ€ใพใŸ่…Ž็—‡็Šถใฎ้‡็—‡ๅบฆใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200675" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Branchio-oto-renal syndrome"@en, "ใ•ใ„ใ˜ใ˜ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ฐ“่€ณ่…Ž็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "BOR syndrome"@en, "BOR็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007029, obo:MONDO_0018878 ; skos:prefLabel "้ฐ“่€ณ่…Ž็—‡ๅ€™็พค"@ja . -:1200676 - :hasNotificationNumber "191" ; - terms:description "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚งใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅพดๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค๏ผˆWerner syndrome๏ผ‰ใฏ็™ฝๅ†…้šœใ‚„็™ฝๆฏ›ใ€่„ฑๆฏ›ใชใฉใ€ๅฎŸๅนด้ฝขใซๆฏ”ในใฆใ€Œ่€ๅŒ–ใŒไฟƒ้€ฒใ•ใ‚ŒใŸใ€ใ‚ˆใ†ใซ่ฆ‹ใˆใ‚‹่ซธ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‹ใ‚‰โ€œๆ—ฉ่€็—‡โ€ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ใŒใ‚“ใ‚„ๅ‹•่„ˆ็กฌๅŒ–ใฎใŸใ‚40ๆญณๅŠใฐใงๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ€ๆ—ฅๆœฌใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ็ด„2,000ๅใงใ‚ใ‚Šใ€ไธ–็•Œใฎๅ ฑๅ‘Šใฎ๏ผ–ๅ‰ฒใŒๆ—ฅๆœฌไบบใงใ‚ใ‚Šๆˆ‘ใŒๅ›ฝใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒ1994ๅนดใซๅŒๅฎšใ•ใ‚ŒใŸใŒใ€ๆ—ฉ่€ๆฉŸๅบใฏๆœช่งฃๆ˜Žใ€ๆ นๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚Šใ€ๅคšใใฎๆ‚ฃ่€…ใŒใ€้›ฃๆฒปๆ€ง็šฎ่†šๆฝฐ็˜ใซไผดใ†ไธ‹่‚ขๅˆ‡ๆ–ญใ‚„ๆ‚ชๆ€ง่…ซ็˜ใ€็ณ–ๅฐฟ็—…ใฎใŸใ‚ใ€็”Ÿๅ‘ฝใฎๅฑๆฉŸๅˆใฏๆญปใ‚’ๅ…ใ‚Œใฆใ‚‚้‡็ฏคใชๅพŒ้บ็—‡ใซ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200676" ; - terms:source ; + + nando:hasNotificationNumber "191" ; + dcterms:description "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚งใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅพดๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค๏ผˆWerner syndrome๏ผ‰ใฏ็™ฝๅ†…้šœใ‚„็™ฝๆฏ›ใ€่„ฑๆฏ›ใชใฉใ€ๅฎŸๅนด้ฝขใซๆฏ”ในใฆใ€Œ่€ๅŒ–ใŒไฟƒ้€ฒใ•ใ‚ŒใŸใ€ใ‚ˆใ†ใซ่ฆ‹ใˆใ‚‹่ซธ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‹ใ‚‰โ€œๆ—ฉ่€็—‡โ€ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ—ใ€ใŒใ‚“ใ‚„ๅ‹•่„ˆ็กฌๅŒ–ใฎใŸใ‚40ๆญณๅŠใฐใงๆญปไบกใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ€ๆ—ฅๆœฌใฎๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ็ด„2,000ๅใงใ‚ใ‚Šใ€ไธ–็•Œใฎๅ ฑๅ‘Šใฎ๏ผ–ๅ‰ฒใŒๆ—ฅๆœฌไบบใงใ‚ใ‚Šๆˆ‘ใŒๅ›ฝใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใŒ1994ๅนดใซๅŒๅฎšใ•ใ‚ŒใŸใŒใ€ๆ—ฉ่€ๆฉŸๅบใฏๆœช่งฃๆ˜Žใ€ๆ นๆฒป็™‚ๆณ•ใ‚‚ๆœช็ขบ็ซ‹ใงใ‚ใ‚Šใ€ๅคšใใฎๆ‚ฃ่€…ใŒใ€้›ฃๆฒปๆ€ง็šฎ่†šๆฝฐ็˜ใซไผดใ†ไธ‹่‚ขๅˆ‡ๆ–ญใ‚„ๆ‚ชๆ€ง่…ซ็˜ใ€็ณ–ๅฐฟ็—…ใฎใŸใ‚ใ€็”Ÿๅ‘ฝใฎๅฑๆฉŸๅˆใฏๆญปใ‚’ๅ…ใ‚Œใฆใ‚‚้‡็ฏคใชๅพŒ้บ็—‡ใซ่‹ฆใ—ใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200676" ; + dcterms:source ; a owl:Class ; - rdfs:label "Werner syndrome"@en, "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010196 ; + rdfs:label "Werner syndrome"@en, "ใ†ใ‡ใ‚‹ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010196 ; skos:prefLabel "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค"@ja . -:1200677 - :hasNotificationNumber "192" ; - terms:description "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค๏ผˆCockayne syndrome๏ผšCS๏ผ‰ใฏ็ดซๅค–็ทšๆ€งDNAๆๅ‚ทใฎไฟฎๅพฉใ‚ทใ‚นใƒ†ใƒ ใ€็‰นใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰้™คๅŽปไฟฎๅพฉใซใŠใ‘ใ‚‹่ปขๅ†™ๅ…ฑ็›Šไฟฎๅพฉ๏ผˆ่ปขๅ†™้ ˜ๅŸŸใฎDNAๆๅ‚ทใฎๅ„ชๅ…ˆ็š„ใชไฟฎๅพฉ๏ผ‰ใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆ—ฉ่€็—‡ใงใ‚ใ‚‹ใ€‚1936ๅนดใซใ‚คใ‚ฎใƒชใ‚นใฎๅฐๅ…็ง‘ๅŒป Cockayneใซใ‚ˆใ‚Šใ€Œ่ฆ–็ฅž็ตŒใฎ่Ž็ธฎใจ้›ฃ่ดใ‚’ไผดใ„็™บ่‚ฒใŒ่‘—ๆ˜ŽใซไฝŽไธ‹ใ—ใŸ็—‡ไพ‹ใ€ใจใ—ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ๆ—ฅๅ…‰้Žๆ•็—‡ใ€็‰น็•ฐใช่€ไบบๆง˜้ก”่ฒŒใ€็šฎไธ‹่„‚่‚ชใฎ่Ž็ธฎใ€ไฝŽ่บซ้•ทใ€่‘—ๆ˜Žใชๆ „้คŠ้šœๅฎณใ€่ฆ–ๅŠ›้šœๅฎณใ€้›ฃ่ดใชใฉใ‚‚ไผดใ†็จ€ใช็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚CSใฎๆœฌ้‚ฆใงใฎ็™บ็—‡้ ปๅบฆใฏ2.7/100ไธ‡ไบบใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200677" ; - terms:source ; + + nando:hasNotificationNumber "192" ; + dcterms:description "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค๏ผˆCockayne syndrome๏ผšCS๏ผ‰ใฏ็ดซๅค–็ทšๆ€งDNAๆๅ‚ทใฎไฟฎๅพฉใ‚ทใ‚นใƒ†ใƒ ใ€็‰นใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰้™คๅŽปไฟฎๅพฉใซใŠใ‘ใ‚‹่ปขๅ†™ๅ…ฑ็›Šไฟฎๅพฉ๏ผˆ่ปขๅ†™้ ˜ๅŸŸใฎDNAๆๅ‚ทใฎๅ„ชๅ…ˆ็š„ใชไฟฎๅพฉ๏ผ‰ใŒใงใใชใ„ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆ—ฉ่€็—‡ใงใ‚ใ‚‹ใ€‚1936ๅนดใซใ‚คใ‚ฎใƒชใ‚นใฎๅฐๅ…็ง‘ๅŒป Cockayneใซใ‚ˆใ‚Šใ€Œ่ฆ–็ฅž็ตŒใฎ่Ž็ธฎใจ้›ฃ่ดใ‚’ไผดใ„็™บ่‚ฒใŒ่‘—ๆ˜ŽใซไฝŽไธ‹ใ—ใŸ็—‡ไพ‹ใ€ใจใ—ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ๆ—ฅๅ…‰้Žๆ•็—‡ใ€็‰น็•ฐใช่€ไบบๆง˜้ก”่ฒŒใ€็šฎไธ‹่„‚่‚ชใฎ่Ž็ธฎใ€ไฝŽ่บซ้•ทใ€่‘—ๆ˜Žใชๆ „้คŠ้šœๅฎณใ€่ฆ–ๅŠ›้šœๅฎณใ€้›ฃ่ดใชใฉใ‚‚ไผดใ†็จ€ใช็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚CSใฎๆœฌ้‚ฆใงใฎ็™บ็—‡้ ปๅบฆใฏ2.7/100ไธ‡ไบบใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200677" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cockayne syndrome"@en, "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016006 ; + rdfs:label "Cockayne syndrome"@en, "ใ“ใ‘ใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Cockayne็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0016006 ; skos:prefLabel "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค"@ja . -:1200678 - :hasNotificationNumber "193" ; - terms:description "1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚ฃใƒชใŒๅˆๅŒใง็™บ่กจใ—ใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚15็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ็•ฐๅธธใซใ‚ˆใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใ€ๆบ€่…นไธญๆžขใ‚’ใฏใ˜ใ‚ไฝ“ๆธฉใ€ๅ‘ผๅธไธญๆžขใชใฉใฎ็•ฐๅธธใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚้ ปๅบฆใฏใ€๏ผ‘ไธ‡ไบบใ‹ใ‚‰๏ผ‘ไธ‡๏ผ•ๅƒไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ไบบ็จฎๅทฎใฏใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200678" ; - terms:source ; + + nando:hasNotificationNumber "193" ; + dcterms:description "1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚ฃใƒชใŒๅˆๅŒใง็™บ่กจใ—ใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚15็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ็•ฐๅธธใซใ‚ˆใ‚‹่ฆ–ๅบŠไธ‹้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใ€ๆบ€่…นไธญๆžขใ‚’ใฏใ˜ใ‚ไฝ“ๆธฉใ€ๅ‘ผๅธไธญๆžขใชใฉใฎ็•ฐๅธธใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚้ ปๅบฆใฏใ€๏ผ‘ไธ‡ไบบใ‹ใ‚‰๏ผ‘ไธ‡๏ผ•ๅƒไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ไบบ็จฎๅทฎใฏใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200678" ; + dcterms:source ; a owl:Class ; - rdfs:label "Prader-Willi syndrome"@en, "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008300 ; + rdfs:label "Prader-Willi syndrome"@en, "ใทใ‚‰ใ ใƒผใƒปใ†ใƒใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Prader-Willi็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008300 ; skos:prefLabel "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค"@ja . -:1200679 - :hasNotificationNumber "194" ; - terms:description "ใ‚ฝใƒˆใ‚น๏ผˆSotos๏ผ‰็—‡ๅ€™็พคใฏใ€NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅฝŽใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚"@ja ; - terms:identifier "1200679" ; - terms:source ; + + nando:hasNotificationNumber "194" ; + dcterms:description "ใ‚ฝใƒˆใ‚น๏ผˆSotos๏ผ‰็—‡ๅ€™็พคใฏใ€NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅฝŽใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚"@ja ; + dcterms:identifier "NANDO:1200679" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sotos syndrome"@en, "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007299, mondo:MONDO_0019349 ; + rdfs:label "Sotos syndrome"@en, "ใใจใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Sotos็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0019349 ; skos:prefLabel "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค"@ja . -:1200680 - :hasNotificationNumber "195" ; - terms:description "ใƒŒใƒผใƒŠใƒณ๏ผˆNoonan๏ผ‰็—‡ๅ€™็พคใฏใ€็ดฐ่ƒžๅ†…ใฎRas/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€ไฝŽ่บซ้•ทใ€่ƒธ้ƒญ็•ฐๅธธใ€ๅœ็•™็ฒพๅทฃใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200680" ; - terms:source ; + + nando:hasNotificationNumber "195" ; + dcterms:description "ใƒŒใƒผใƒŠใƒณ๏ผˆNoonan๏ผ‰็—‡ๅ€™็พคใฏใ€็ดฐ่ƒžๅ†…ใฎRas/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€ไฝŽ่บซ้•ทใ€่ƒธ้ƒญ็•ฐๅธธใ€ๅœ็•™็ฒพๅทฃใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200680" ; + dcterms:source ; a owl:Class ; - rdfs:label "Noonan syndrome"@en, "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008104, mondo:MONDO_0018997 ; + rdfs:label "Noonan syndrome"@en, "ใฌใƒผใชใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Noonan็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018997 ; skos:prefLabel "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค"@ja . -:1200681 - :hasNotificationNumber "196" ; - terms:description "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200681" ; - terms:source ; + + nando:hasNotificationNumber "196" ; + dcterms:description "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200681" ; + dcterms:source ; a owl:Class ; - rdfs:label "Young-Simpson syndrome"@en, "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011365, mondo:MONDO_0017393 ; + rdfs:label "Young-Simpson syndrome"@en, "ใ‚„ใ‚“ใใƒปใ—ใ‚“ใทใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Young-Simpson็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0011365 ; skos:prefLabel "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:1200682 - :hasNotificationNumber "197" ; - terms:description "๏ผ‘็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆœซ็ซฏ1p36้ ˜ๅŸŸใฎๆฌ ๅคฑใซใ‚ˆใฃใฆใŠใ“ใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆˆ้•ท้šœๅฎณใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”้…ๆปžใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใชใฉใฎ็—‡็Šถใ‚’ๆฅใŸใ™ใ€‚"@ja ; - terms:identifier "1200682" ; - terms:source ; + + nando:hasNotificationNumber "197" ; + dcterms:description "๏ผ‘็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆœซ็ซฏ1p36้ ˜ๅŸŸใฎๆฌ ๅคฑใซใ‚ˆใฃใฆใŠใ“ใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆˆ้•ท้šœๅฎณใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”้…ๆปžใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใชใฉใฎ็—‡็Šถใ‚’ๆฅใŸใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1200682" ; + dcterms:source ; a owl:Class ; - rdfs:label "1p36 deletion syndrome"@en, "๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011929 ; + rdfs:label "1p36 deletion syndrome"@en, "1ใดใƒผ36ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011929 ; skos:prefLabel "๏ผ‘๏ฝ36ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . -:1200683 - :hasNotificationNumber "198" ; - terms:description "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€ๅคš็™บๅฝขๆ…‹็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200683" ; - terms:source ; - a owl:Class ; - rdfs:label "4p deletion syndrome"@en, "๏ผ”pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "4p-syndrome"@en ; - skos:closeMatch mondo:MONDO_0008684, mondo:MONDO_0022762 ; - skos:prefLabel "๏ผ”pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . - -:1200684 - :hasNotificationNumber "199" ; - terms:description "5pๆฌ ๅคฑ็—‡ๅ€™็พคใฏ๏ผ•็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200684" ; - terms:source ; - a owl:Class ; - rdfs:label "5p deletion syndrome"@en, "๏ผ•pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "5p-syndrome"@en ; - skos:closeMatch mondo:MONDO_0007404 ; - skos:prefLabel "๏ผ•pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . - -:1200685 - :hasNotificationNumber "200" ; - terms:description "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€14็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ32.2้ ˜ๅŸŸ๏ผˆ14q32.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹ใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ้บไผๅญใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๅฐ่ƒธ้ƒญใซใ‚ˆใ‚‹ๅ‘ผๅธ้šœๅฎณใ€่…นๅฃ็•ฐๅธธใ€็‰นๅพด็š„ใช้ก”่ฒŒใ‚’็คบใ™ใ€‚ๆฒป็™‚ๆณ•ใฏๆœช็ขบ็ซ‹ใงใ€ๅฏพ็—‡็™‚ๆณ•ใŒไธญๅฟƒใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200685" ; - terms:source ; - a owl:Class ; - rdfs:label "Paternal uniparental disomy of chromosome 14"@en, "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Kagami-Ogata syndrome"@en, "No. 14 chromosome father disomy syndrome"@en ; - skos:closeMatch mondo:MONDO_0011975 ; + + nando:hasNotificationNumber "198" ; + dcterms:description "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€ๅคš็™บๅฝขๆ…‹็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200683" ; + dcterms:source ; + a owl:Class ; + rdfs:label "4p deletion syndrome"@en, "4pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "4ใดใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "4p-syndrome"@en, "Wolf-Hirschhorn syndrome"@en, "ใ‚ฆใ‚ฉใƒซใƒ•ใƒปใƒ’ใƒซใ‚ทใƒฅใƒ›ใƒผใƒณ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008684 ; + skos:prefLabel "4pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "199" ; + dcterms:description "5pๆฌ ๅคฑ็—‡ๅ€™็พคใฏ๏ผ•็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200684" ; + dcterms:source ; + a owl:Class ; + rdfs:label "5p deletion syndrome"@en, "5pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "5ใดใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "5p-syndrome"@en, "5p-็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007404 ; + skos:prefLabel "5pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "200" ; + dcterms:description "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€14็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎ32.2้ ˜ๅŸŸ๏ผˆ14q32.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹ใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ้บไผๅญใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๅฐ่ƒธ้ƒญใซใ‚ˆใ‚‹ๅ‘ผๅธ้šœๅฎณใ€่…นๅฃ็•ฐๅธธใ€็‰นๅพด็š„ใช้ก”่ฒŒใ‚’็คบใ™ใ€‚ๆฒป็™‚ๆณ•ใฏๆœช็ขบ็ซ‹ใงใ€ๅฏพ็—‡็™‚ๆณ•ใŒไธญๅฟƒใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200685" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paternal uniparental disomy of chromosome 14"@en, "ใ ใ„14ใฐใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใกใกใŠใ‚„ใ›ใ„ใ ใ„ใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Kagami-Ogata syndrome"@en, "No. 14 chromosome father disomy syndrome"@en, "Paternal uniparental disomy 14"@en ; + skos:closeMatch obo:MONDO_0011975 ; skos:prefLabel "็ฌฌ14็•ชๆŸ“่‰ฒไฝ“็ˆถ่ฆชๆ€งใƒ€ใ‚คใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja . -:1200686 - :hasNotificationNumber "201" ; - terms:description "้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ€ๆ—ฅๆœฌใงใฏ500๏ฝž1,000ไบบ็จ‹ๅบฆใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200686" ; - terms:source ; + + nando:hasNotificationNumber "201" ; + dcterms:description "้‡ๅบฆใฎ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ€ๆ—ฅๆœฌใงใฏ500๏ฝž1,000ไบบ็จ‹ๅบฆใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200686" ; + dcterms:source ; a owl:Class ; - rdfs:label "Angelman syndrome"@en, "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007113 ; + rdfs:label "Angelman syndrome"@en, "ใ‚ใ‚“ใ˜ใ‡ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Angelman็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007113 ; skos:prefLabel "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja . -:1200687 - :hasNotificationNumber "202" ; - terms:description "17็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎไธญ้–“้ƒจๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€่‡ชๅ‚ท่กŒ็‚บใ€่กŒๅ‹•็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใƒฌใƒ ็ก็œ ใฎๆธ›ๅฐ‘ใ‚„ๆฌ ๅฆ‚ใซใ‚ˆใ‚‹็ก็œ ้šœๅฎณใ‚’่ชใ‚ใ‚‹ๆ‚ฃ่€…ใ‚‚ใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200687" ; - terms:source ; + + nando:hasNotificationNumber "202" ; + dcterms:description "17็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎไธญ้–“้ƒจๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€่‡ชๅ‚ท่กŒ็‚บใ€่กŒๅ‹•็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใƒฌใƒ ็ก็œ ใฎๆธ›ๅฐ‘ใ‚„ๆฌ ๅฆ‚ใซใ‚ˆใ‚‹็ก็œ ้šœๅฎณใ‚’่ชใ‚ใ‚‹ๆ‚ฃ่€…ใ‚‚ใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200687" ; + dcterms:source ; a owl:Class ; - rdfs:label "Smith-Magenis syndrome"@en, "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008434 ; + rdfs:label "Smith-Magenis syndrome"@en, "ใ™ใฟใ™ใƒปใพใŽใซใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Smith-Magenis็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008434 ; skos:prefLabel "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค"@ja . -:1200688 - :hasNotificationNumber "203" ; - terms:description "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พคใฏใ€ๆ‚ฃ่€…ใฎ80๏ผ…ใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€่ƒธ่…บ็™บ้”้…ๅปถใƒป็„กๅฝขๆˆใซใ‚ˆใ‚‹ๅ…็–ซไฝŽไธ‹ใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใƒป่ปŸๅฃ่“‹้–‰้Ž–ไธๅ…จใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚4,000๏ฝž5,000ไบบใซ๏ผ‘ไบบใฎ้ ปๅบฆใง็™บ็”Ÿใ™ใ‚‹ๅธŒใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“22q11.2ใฎๅพฎ็ดฐๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œ็ด„30ๅ€‹ไปฅไธŠใฎ้บไผๅญใŒๆฌ ๅคฑใ—ใฆใ„ใ‚‹ใŒใ€ๆœชใ ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒ็–พๆ‚ฃใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€่‚บๅ‹•่„ˆๅผๆฌ ๆใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธป่ฆไฝ“่‚บๅดๅ‰ฏๅ‹•่„ˆใฎๅˆไฝตใชใฉใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ใŒใ—ใฐใ—ใฐๅ›ฐ้›ฃใงใ€ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚‹ๆญปไบกไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅˆไฝตใ™ใ‚‹ๅ…็–ซไฝŽไธ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่‚บ้ซ˜่ก€ๅœงใชใฉใซใ‚ˆใ‚Šๆ‰‹่ก“ๆญปไบกใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€ๆœชใ ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใฏๆœช็ขบ็ซ‹ใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏใŸใจใˆ็”Ÿๅญ˜ใ—ใฆใ‚‚ใ€็™บ้”้…ๅปถใ‚„็ฒพ็ฅž็–พๆ‚ฃใ€็ตฑๅˆๅคฑ่ชฟ็—‡ใชใฉใซใ‚ˆใ‚‹็”Ÿๆดป้ขใฎ้•ทๆœŸใซใ‚ใŸใ‚‹ๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚"@ja ; - terms:identifier "1200688" ; - terms:source ; - a owl:Class ; - rdfs:label "22q11.2 deletion syndrome"@en, "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008564, mondo:MONDO_0018923 ; + + nando:hasNotificationNumber "203" ; + dcterms:description "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พคใฏใ€ๆ‚ฃ่€…ใฎ80๏ผ…ใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€่ƒธ่…บ็™บ้”้…ๅปถใƒป็„กๅฝขๆˆใซใ‚ˆใ‚‹ๅ…็–ซไฝŽไธ‹ใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใƒป่ปŸๅฃ่“‹้–‰้Ž–ไธๅ…จใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚4,000๏ฝž5,000ไบบใซ๏ผ‘ไบบใฎ้ ปๅบฆใง็™บ็”Ÿใ™ใ‚‹ๅธŒใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“22q11.2ใฎๅพฎ็ดฐๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œ็ด„30ๅ€‹ไปฅไธŠใฎ้บไผๅญใŒๆฌ ๅคฑใ—ใฆใ„ใ‚‹ใŒใ€ๆœชใ ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒ็–พๆ‚ฃใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€่‚บๅ‹•่„ˆๅผๆฌ ๆใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธป่ฆไฝ“่‚บๅดๅ‰ฏๅ‹•่„ˆใฎๅˆไฝตใชใฉใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ใŒใ—ใฐใ—ใฐๅ›ฐ้›ฃใงใ€ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚‹ๆญปไบกไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๅˆไฝตใ™ใ‚‹ๅ…็–ซไฝŽไธ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่‚บ้ซ˜่ก€ๅœงใชใฉใซใ‚ˆใ‚Šๆ‰‹่ก“ๆญปไบกใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€ๆœชใ ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใฏๆœช็ขบ็ซ‹ใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏใŸใจใˆ็”Ÿๅญ˜ใ—ใฆใ‚‚ใ€็™บ้”้…ๅปถใ‚„็ฒพ็ฅž็–พๆ‚ฃใ€็ตฑๅˆๅคฑ่ชฟ็—‡ใชใฉใซใ‚ˆใ‚‹็”Ÿๆดป้ขใฎ้•ทๆœŸใซใ‚ใŸใ‚‹ๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1200688" ; + dcterms:source ; + a owl:Class ; + rdfs:label "22q11.2 deletion syndrome"@en, "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "22ใใ‚…ใƒผ11.2ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Chromosome 22q11.2 deletion syndrome"@en ; + skos:closeMatch obo:MONDO_0008564, obo:MONDO_0008644, obo:MONDO_0018923 ; skos:prefLabel "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . -:1200689 - :hasNotificationNumber "204" ; - terms:description "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พคใฏ็‰น็•ฐ้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅฐ้กŽ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚22็•ช้Žๅ‰ฐๆดพ็”ŸๆŸ“่‰ฒไฝ“็—‡ๅ€™็พคใ€11/22ๆททๅˆใƒˆใƒชใ‚ฝใƒŸใƒผใชใฉใจใ‚‚ๅ‘ผใฐใ‚ŒใฆใŠใ‚Šใ€ๆŸ“่‰ฒไฝ“่ปขๅบงt(11;22)ใซ็”ฑๆฅใ™ใ‚‹22็•ชๆดพ็”ŸๆŸ“่‰ฒไฝ“ใ‚’47ๆœฌ็›ฎใฎๆŸ“่‰ฒไฝ“ใจใ—ใฆ้Žๅ‰ฐใซๆŒใคใ“ใจใŒๆœฌ็–พๆ‚ฃใฎๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฎๅˆ†ๅญ้บไผๅญฆ็ ”็ฉถใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆœฌ็–พๆ‚ฃใฎ็™บ็”Ÿ้ ปๅบฆใŒไบˆๆƒณๅค–ใซ้ซ˜ใ„ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚"@ja ; - terms:identifier "1200689" ; - terms:source ; + + nando:hasNotificationNumber "204" ; + dcterms:description "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พคใฏ็‰น็•ฐ้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅฐ้กŽ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚22็•ช้Žๅ‰ฐๆดพ็”ŸๆŸ“่‰ฒไฝ“็—‡ๅ€™็พคใ€11/22ๆททๅˆใƒˆใƒชใ‚ฝใƒŸใƒผใชใฉใจใ‚‚ๅ‘ผใฐใ‚ŒใฆใŠใ‚Šใ€ๆŸ“่‰ฒไฝ“่ปขๅบงt(11;22)ใซ็”ฑๆฅใ™ใ‚‹22็•ชๆดพ็”ŸๆŸ“่‰ฒไฝ“ใ‚’47ๆœฌ็›ฎใฎๆŸ“่‰ฒไฝ“ใจใ—ใฆ้Žๅ‰ฐใซๆŒใคใ“ใจใŒๆœฌ็–พๆ‚ฃใฎๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฎๅˆ†ๅญ้บไผๅญฆ็ ”็ฉถใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆœฌ็–พๆ‚ฃใฎ็™บ็”Ÿ้ ปๅบฆใŒไบˆๆƒณๅค–ใซ้ซ˜ใ„ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200689" ; + dcterms:source ; a owl:Class ; - rdfs:label "Emanuel syndrome"@en, "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012176 ; + rdfs:label "Emanuel syndrome"@en, "ใˆใพใฌใˆใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012176 ; skos:prefLabel "ใ‚จใƒžใƒŒใ‚จใƒซ็—‡ๅ€™็พค"@ja . -:1200690 - :hasNotificationNumber "205" ; - terms:description "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200690" ; - terms:source ; - a owl:Class ; - rdfs:label "Fragile X syndrome related diseases"@en, "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Fragile X-associated tremor/ataxia syndrome"@en ; - skos:closeMatch mondo:MONDO_0010382 ; + + nando:hasNotificationNumber "205" ; + dcterms:description "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200690" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fragile X syndrome related diseases"@en, "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Fragile X syndrome and associated disorders"@en, "Fragile X-associated disorders"@en, "Fragile X-associated tremor/ataxia syndrome"@en ; + skos:closeMatch obo:MONDO_0010382 ; skos:prefLabel "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja . -:1200691 - :hasNotificationNumber "205" ; - terms:identifier "1200691" ; - terms:source ; + + nando:hasNotificationNumber "205" ; + dcterms:identifier "NANDO:1200691" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fragile X tremor/ataxia syndrome"@en, "่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Fragile X tremor/ataxia syndrome"@en, "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใšใ„ใฏใ‚“ใ—ใ‚“ใ›ใ‚“/ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "FXTAS"@en ; - skos:closeMatch mondo:MONDO_0010382 ; + skos:closeMatch obo:MONDO_0010382 ; skos:prefLabel "่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ/ๅคฑ่ชฟ็—‡ๅ€™็พค"@ja . -:1200692 - :hasNotificationNumber "206" ; - terms:description "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200692" ; - terms:source ; + + nando:hasNotificationNumber "206" ; + dcterms:description "XๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎFMR1้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50ใ‹ใ‚‰200ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑX้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑX็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎCGG็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ200ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑX็—‡ๅ€™็พคใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200692" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fragile X syndrome"@en, "่„†ๅผฑX็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010383 ; + rdfs:label "Fragile X syndrome"@en, "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่„†ๅผฑX็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010383 ; skos:prefLabel "่„†ๅผฑX็—‡ๅ€™็พค"@ja . -:1200693 - :hasNotificationNumber "207" ; - terms:description "ๅคงใใชๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๆœ‰ใ—ใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ๅ˜ไธ€ใฎๅ‹•่„ˆใซ่ก€ๆถฒใ‚’้ง†ๅ‡บใ™ใ‚‹ใ“ใจใงใ€ๅคงๅ‹•่„ˆใ€่‚บๅ‹•่„ˆๅŠใณๅ† ๅ‹•่„ˆใซ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ไผดใ†่‚บ่ก€ๆตๅข—ๅคšใจใ€็ทๅ‹•่„ˆๅนนๅผๅฝขๆˆไธๅ…จใซใ‚ˆใ‚‹ๅผ้€†ๆตใซใ‚ˆใ‚Šใ€ๅ‡บ็”ŸๅพŒใŸใ ใกใซๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ€€Collett and Edwardsใฎๅˆ†้กž"@ja ; - terms:identifier "1200693" ; - terms:source ; - a owl:Class ; - rdfs:label "Persistent truncus arteriosus"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Truncus arteriosus communis"@en ; - skos:closeMatch mondo:MONDO_0016581, mondo:MONDO_0018072 ; + + nando:hasNotificationNumber "207" ; + dcterms:description "ๅคงใใชๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๆœ‰ใ—ใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ๅ˜ไธ€ใฎๅ‹•่„ˆใซ่ก€ๆถฒใ‚’้ง†ๅ‡บใ™ใ‚‹ใ“ใจใงใ€ๅคงๅ‹•่„ˆใ€่‚บๅ‹•่„ˆๅŠใณๅ† ๅ‹•่„ˆใซ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ไผดใ†่‚บ่ก€ๆตๅข—ๅคšใจใ€็ทๅ‹•่„ˆๅนนๅผๅฝขๆˆไธๅ…จใซใ‚ˆใ‚‹ๅผ้€†ๆตใซใ‚ˆใ‚Šใ€ๅ‡บ็”ŸๅพŒใŸใ ใกใซๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ€€Collett and Edwardsใฎๅˆ†้กž"@ja ; + dcterms:identifier "NANDO:1200693" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Truncus arteriosus communis"@en, "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018072 ; skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja . -:1200694 - :hasNotificationNumber "207" ; - terms:identifier "1200694" ; - terms:source ; - a owl:Class ; - rdfs:label "Truncus arteriosus communis type I"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ… ๅž‹๏ผ‰"@ja . - -:1200695 - :hasNotificationNumber "207" ; - terms:identifier "1200695" ; - terms:source ; - a owl:Class ; - rdfs:label "Truncus arteriosus communis type II"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…กๅž‹๏ผ‰"@ja . - -:1200696 - :hasNotificationNumber "207" ; - terms:identifier "1200696" ; - terms:source ; - a owl:Class ; - rdfs:label "Truncus arteriosus communis type III"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ขๅž‹๏ผ‰"@ja . - -:1200697 - :hasNotificationNumber "207" ; - terms:identifier "1200697" ; - terms:source ; - a owl:Class ; - rdfs:label "Truncus arteriosus communis type โ…ฃ"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆโ…ฃๅž‹๏ผ‰"@ja . - -:1200698 - :hasNotificationNumber "208" ; - terms:description "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200698" ; - terms:source ; - a owl:Class ; - rdfs:label "Corrected Transposition of Great Arteries"@en, "ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "207" ; + dcterms:identifier "NANDO:1200694" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Truncus arteriosus communis type I"@en, "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡Iๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Type I truncus arteriosus communis"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆIๅž‹๏ผ‰"@ja ; + skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡Iๅž‹"@ja . + + + nando:hasNotificationNumber "207" ; + dcterms:identifier "NANDO:1200695" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Truncus arteriosus communis type II"@en, "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆIIๅž‹๏ผ‰"@ja ; + skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "207" ; + dcterms:identifier "NANDO:1200696" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Truncus arteriosus communis type III"@en, "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆIIIๅž‹๏ผ‰"@ja ; + skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "207" ; + dcterms:identifier "NANDO:1200697" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Truncus arteriosus communis type IV"@en, "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†4ใŒใŸ"@ja-Hira, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IVๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡๏ผˆIVๅž‹๏ผ‰"@ja ; + skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡IVๅž‹"@ja . + + + nando:hasNotificationNumber "208" ; + dcterms:description "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200698" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Corrected transposition of great arteries"@en, "ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Corrected transposition of the great arteries"@en ; + skos:closeMatch obo:MONDO_0019443 ; skos:prefLabel "ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja . -:1200699 - :hasNotificationNumber "209" ; - terms:description "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200699" ; - terms:source ; - a owl:Class ; - rdfs:label "Complete Transposition of Great Arteries"@en, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Complete TGA"@en, "Complete transpositionย of theย great arteries"@en ; + + nando:hasNotificationNumber "209" ; + dcterms:description "ๅคง่ก€็ฎก่ปขไฝ็—‡ใซใฏใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅณๆˆฟใจๅณๅฎคใ€ๅทฆๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹๏ผˆใŠใ‚ˆใณๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹๏ผ‰ใซๅˆ†้กžใ™ใ‚‹ใ€‚ใ€€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝใ€€ไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡ใจใฏใ€ๅทฆๅณใฎๅฟƒๅฎคใŒๅ…ฅใ‚Œๆ›ฟใ‚ใ‚Šใ€ๅณๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎค๏ผˆๅณๅด๏ผ‰โ†’่‚บๅ‹•่„ˆใธ็น‹ใŒใ‚Šใ€ๅทฆๆˆฟโ†’่งฃๅ‰–ๅญฆ็š„ๅณๅฎค๏ผˆๅทฆๅด๏ผ‰โ†’ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ใ€‚่ก€ๆถฒใฎๆตใ‚Œใฏใ€ๆญฃๅธธใจๅŒๆง˜ใซใ€้™่„ˆ่ก€ใฏ่‚บๅ‹•่„ˆใธใ€ๅ‹•่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚ใ€ๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚ใพใŸใฏใ€่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฏ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใจ็•ฐใชใ‚Šใ€ไธ€็”Ÿๆถฏ120mmHgไปฅไธŠใฎ่ก€ๅœงใ‚’็ถญๆŒใ™ใ‚‹ใ“ใจใฏไธๅฏ่ƒฝใงใ‚ใ‚Šใ€ๆˆไบบๆœŸใซ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใฎๅฟƒไธๅ…จใŒ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200699" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Complete transposition of the great arteries"@en, "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Complete TGA"@en ; + skos:closeMatch obo:MONDO_0016301 ; skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja . -:1200700 - :hasNotificationNumber "209" ; - terms:identifier "1200700" ; - terms:source ; - a owl:Class ; - rdfs:label "Complete transpositionย of theย great arteries (Group1)"@en, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ… ๅž‹๏ผ‰"@ja . - -:1200701 - :hasNotificationNumber "209" ; - terms:identifier "1200701" ; - terms:source ; - a owl:Class ; - rdfs:label "Complete transpositionย of theย great arteries (Group2)"@en, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…กๅž‹๏ผ‰"@ja . - -:1200702 - :hasNotificationNumber "209" ; - terms:identifier "1200702" ; - terms:source ; - a owl:Class ; - rdfs:label "Complete transpositionย of theย great arteries (Group3)"@en, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ขๅž‹๏ผ‰"@ja . - -:1200703 - :hasNotificationNumber "209" ; - terms:identifier "1200703" ; - terms:source ; - a owl:Class ; - rdfs:label "Complete transpositionย of theย great arteries (Group4)"@en, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆโ…ฃๅž‹๏ผ‰"@ja . - -:1200704 - :hasNotificationNumber "210" ; - terms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200704" ; - terms:source ; - a owl:Class ; - rdfs:label "Single ventricle heart defect"@en, "ๅ˜ๅฟƒๅฎค็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "209" ; + dcterms:identifier "NANDO:1200700" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Complete transposition of the great arteries (Group1)"@en, "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡Iๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆIๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡Iๅž‹"@ja . + + + nando:hasNotificationNumber "209" ; + dcterms:identifier "NANDO:1200701" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Complete transposition of the great arteries (Group2)"@en, "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆIIๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0016301, obo:MONDO_0016303 ; + skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "209" ; + dcterms:identifier "NANDO:1200702" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Complete transposition of the great arteries (Group3)"@en, "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆIIIๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "209" ; + dcterms:identifier "NANDO:1200703" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Complete transposition of the great arteries (Group4)"@en, "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†4ใŒใŸ"@ja-Hira, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IVๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡๏ผˆIVๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0016301, obo:MONDO_0020385 ; + skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡IVๅž‹"@ja . + + + nando:hasNotificationNumber "210" ; + dcterms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200704" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Single ventricle"@en, "ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ†"@ja-Hira, "ๅ˜ๅฟƒๅฎค็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Univentricular heart"@en ; - skos:closeMatch mondo:MONDO_0015451 ; + skos:closeMatch obo:MONDO_0015451 ; skos:prefLabel "ๅ˜ๅฟƒๅฎค็—‡"@ja . -:1200705 - :hasNotificationNumber "211" ; - terms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200705" ; - terms:source ; + + nando:hasNotificationNumber "211" ; + dcterms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200705" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypoplastic left heart syndrome"@en, "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004933 ; + rdfs:label "Hypoplastic left heart syndrome"@en, "ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004933 ; skos:prefLabel "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja . -:1200706 - :hasNotificationNumber "212" ; - terms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200706" ; - terms:source ; + + nando:hasNotificationNumber "212" ; + dcterms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200706" ; + dcterms:source ; a owl:Class ; - rdfs:label "Tricuspid atresia"@en, "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011514 ; + rdfs:label "Tricuspid atresia"@en, "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011514 ; skos:prefLabel "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja . -:1200707 - :hasNotificationNumber "213" ; - terms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200707" ; - terms:source ; + + nando:hasNotificationNumber "213" ; + dcterms:description "ๅ˜ๅฟƒๅฎค็—‡ใ€ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พคใ€ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฎ็ท็งฐใ‚’ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใจใฏใ€ไฝ“ๅพช็’ฐใจ่‚บๅพช็’ฐใฎๅŒๆ–นใ‚’ใ€ๆฉŸ่ƒฝ็š„ใซไธ€ใคใฎๅฟƒๅฎคใฎใฟใซไพๅญ˜ใ™ใ‚‹่ก€่กŒๅ‹•ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅ…จใฆใ€ๅ…ˆๅคฉๆ€งใงใ‚ใ‚Šใ€ๅพŒๅคฉๆ€งใฎ็–พๆ‚ฃใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ใชใŠใ€ๅ˜ๅฟƒๅฎค็—‡ใจใฏใ€ๅฝขๆ…‹็š„ใซๅฟƒๅฎคใŒไธ€ใคใฎใฟๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใ€€ๅ˜ๅฟƒๅฎคๅพช็’ฐ็—‡ๅ€™็พคใงใฏใ€้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ€ๅคšๅ‘ผๅธใ€ๆ˜“็–ฒๅŠดๆ„Ÿใชใฉใฎๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅข—ๅŠ ใ€ๆธ›ๅฐ‘ใฎๅŒๆ–นใŒๅญ˜ๅœจใ—ใ€ๅฟƒๅฎคใƒฌใƒ™ใƒซใง่ก€ๆถฒใŒๅณโ€”ๅทฆ็Ÿญ็ตกใ™ใ‚‹ใŸใ‚ใ€้…ธ็ด ๆŠ•ไธŽใซๅๅฟœใ—ใชใ„ไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใ€่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใ€€ๆ‰‹่ก“ใ‚’ๅซใ‚ใ€ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๅŠดไฝœๆ™‚ใฎๆ˜“็–ฒๅŠดใฎใŸใ‚ใ€ๅฐฑๆฅญใชๅ›ฐ้›ฃใชๅ ดๅˆใŒๅคšใ„ใ€‚้‡ๅบฆใฎๆ…ขๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚„ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ๅพŒใฎๅพช็’ฐ็ ด็ถปใซใ‚ˆใฃใฆๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200707" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary Atresia with Intact Ventricular Septum"@en, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Pulmonary atresia with intact ventricular septum"@en, "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ‚ใชใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Pulmonary atresia without ventricular septum defect"@en ; - skos:closeMatch mondo:MONDO_0009931 ; + skos:closeMatch obo:MONDO_0009931 ; skos:prefLabel "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja . -:1200708 - :hasNotificationNumber "214" ; - terms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200708" ; - terms:source ; - a owl:Class ; - rdfs:label "Pulmonary atresia with ventricular septum defect"@en, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Pulmonary atresia with ventricular septal defect"@en ; - skos:closeMatch mondo:MONDO_0008343 ; + + nando:hasNotificationNumber "214" ; + dcterms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200708" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pulmonary atresia with ventricular septal defect"@en, "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja ; + skos:closeMatch obo:MONDO_0008343 ; skos:prefLabel "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja . -:1200709 - :hasNotificationNumber "215" ; - terms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200709" ; - terms:source ; + + nando:hasNotificationNumber "215" ; + dcterms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200709" ; + dcterms:source ; a owl:Class ; - rdfs:label "Tetralogy of Fallot"@en, "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Tetralogy of Fallot"@en, "ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Fallot's Tetralogy"@en ; - skos:closeMatch mondo:MONDO_0008542 ; + skos:closeMatch obo:MONDO_0008542 ; skos:prefLabel "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja . -:1200710 - :hasNotificationNumber "216" ; - terms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200710" ; - terms:source ; + + nando:hasNotificationNumber "216" ; + dcterms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใจใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ใจใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–ใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ใฏใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใซใŠใ‘ใ‚‹่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–ใจใชใฃใŸๅž‹ใงใ‚ใ‚Šใ€ๅˆฅๅใ€ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎ๏ผ’ใคใฎๅคง่ก€็ฎกใฎใ†ใกใ€ใฉใกใ‚‰ใ‹ไธ€ๆ–นใฎๅคง่ก€็ฎกใŒๅฎŒๅ…จใซใ€ไป–ๆ–นใฎๅคง่ก€็ฎกใŒ50๏ผ…ไปฅไธŠใ€ๅณๅฟƒๅฎคใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šใ™ใ‚‹็‰นๅพดใจใ—ใฆใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ€โ‘ขๅคง่ก€็ฎกใจๅฟƒๅฎคใฎ่งฃๅ‰–ๅญฆ็š„้€ฃ็ถšๆ€งใฎ็•ฐๅธธใ€โ‘ฃๅณๅฎค่‚ฅๅคงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผใŒ้–‰้Ž–ใ—ใฆใ„ใŸใ‚Šใ€่‚บๅ‹•่„ˆใŒไฝŽๅฝขๆˆใงใ‚ใฃใŸใ‚Šใ™ใ‚‹ๅ ดๅˆใซใฏใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ใ€€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡้กž็ธ็–พๆ‚ฃใซใฏใ€๏ผ‘๏ผ‰้ซ˜ๅบฆ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใฎใŸใ‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ๅ ดๅˆใ€๏ผ’๏ผ‰ๅฟƒๅ†…ไฟฎๅพฉ่ก“ๅพŒใ ใŒใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€ๅค–็ง‘ๆฒป็™‚ใ‚’ใ—ใชใ‘ใ‚Œใฐใ€๏ผ‘ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€๏ผ“ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจใ„ใ‚ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใงๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒใงใใชใ„ไพ‹ใงใฏใ€ๆˆไบบๆœŸใฎๆญปไบกๅŽŸๅ› ใฏไฝŽ้…ธ็ด ่ก€็—‡ใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใ€ๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ใƒฉใ‚นใƒ†ใƒช๏ผˆRastelli๏ผ‰ๆ‰‹่ก“ใชใฉๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆ–ฝ่กŒใ•ใ‚ŒใŸไพ‹ใงใฏใ€ๆˆไบบๆœŸไปฅ้™ใซใ€ๅณๅฎคไธๅ…จใ€ๅทฆๅฎคไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ไพ‹ใŒใ‚ใ‚Šใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200710" ; + dcterms:source ; a owl:Class ; - rdfs:label "Double outlet right ventricle"@en, "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016581, mondo:MONDO_0018089 ; + rdfs:label "Double outlet right ventricle"@en, "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018089 ; skos:prefLabel "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja . -:1200711 - :hasNotificationNumber "217" ; - terms:description "ไธ‰ๅฐ–ๅผใฎ๏ผ‘ๆžšๅˆใฏ๏ผ’ๆžšใฎๅผๅฐ–ไป˜็€ไฝ็ฝฎใŒๅณๅฎคๅ†…ใซใšใ‚Œ่ฝใกใ‚‹ใŸใ‚ใซไธ‰ๅฐ–ๅผใฎ้–‰้Ž–ใซๆ”ฏ้šœใŒ็”Ÿใ˜ใฆ้ซ˜ๅบฆใฎ้€†ๆตใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸๅณๆˆฟๅŒ–ใ—ใŸๅณๅฎคใฎๅฟƒ็ญ‹ใฏ่ฒ่–„ๅŒ–ใ™ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผ้€†ๆตใจๅณๆˆฟๅŒ–ๅณๅฎคใฎใŸใ‚ใซๅณๆˆฟใฏ่‘—ๆ˜Žใซๆ‹กๅคงใ—ใ€ๆฉŸ่ƒฝ็š„ๅณๅฎคใฏ็‹ญๅฐๅŒ–ใ—ใ€ๆฉŸ่ƒฝ็š„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆฟๅฎคๆŽฅๅˆ้ƒจใซใŠใ‘ใ‚‹็ทš็ถญ่ผชใฎๅฝขๆˆใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ๆˆฟๅฎคๅ‰ฏไผๅฐŽ่ทฏใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚‹WPW็—‡ๅ€™็พคใฎๅˆไฝตไพ‹ใŒ็ด„20๏ฝž30๏ผ…ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200711" ; - terms:source ; - a owl:Class ; - rdfs:label "Ebstein disease"@en, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Ebstein malformation"@en ; - skos:closeMatch mondo:MONDO_0009144 ; + + nando:hasNotificationNumber "217" ; + dcterms:description "ไธ‰ๅฐ–ๅผใฎ๏ผ‘ๆžšๅˆใฏ๏ผ’ๆžšใฎๅผๅฐ–ไป˜็€ไฝ็ฝฎใŒๅณๅฎคๅ†…ใซใšใ‚Œ่ฝใกใ‚‹ใŸใ‚ใซไธ‰ๅฐ–ๅผใฎ้–‰้Ž–ใซๆ”ฏ้šœใŒ็”Ÿใ˜ใฆ้ซ˜ๅบฆใฎ้€†ๆตใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸๅณๆˆฟๅŒ–ใ—ใŸๅณๅฎคใฎๅฟƒ็ญ‹ใฏ่ฒ่–„ๅŒ–ใ™ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผ้€†ๆตใจๅณๆˆฟๅŒ–ๅณๅฎคใฎใŸใ‚ใซๅณๆˆฟใฏ่‘—ๆ˜Žใซๆ‹กๅคงใ—ใ€ๆฉŸ่ƒฝ็š„ๅณๅฎคใฏ็‹ญๅฐๅŒ–ใ—ใ€ๆฉŸ่ƒฝ็š„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎ่ก€่กŒๅ‹•ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆฟๅฎคๆŽฅๅˆ้ƒจใซใŠใ‘ใ‚‹็ทš็ถญ่ผชใฎๅฝขๆˆใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ๆˆฟๅฎคๅ‰ฏไผๅฐŽ่ทฏใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚‹WPW็—‡ๅ€™็พคใฎๅˆไฝตไพ‹ใŒ็ด„20๏ฝž30๏ผ…ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200711" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ebstein's anomaly"@en, "ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Ebstein anomaly"@en, "Ebstein malformation"@en, "Ebstein's malformation"@en, "Ebsteinๅฅ‡ๅฝข"@ja, "Ebstein็—…"@ja ; + skos:closeMatch obo:MONDO_0009144 ; skos:prefLabel "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja . -:1200712 - :hasNotificationNumber "218" ; - terms:description "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พคใฏ้€ฒ่กŒๆ€ง้บไผๆ€ง่…Ž็‚Žใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใŒX้€ฃ้Ž–ๅž‹้บไผๅฝขๅผใ‚’็คบใ—ใ€ใใฎ้‡็—‡ไพ‹ใงใฏ็”ทๆ€งใง10ไปฃๅพŒๅŠใ‹ใ‚‰20ไปฃๅ‰ๅŠใซๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚่‹ฅๅนด้€ๆžๅฐŽๅ…ฅใฎไธปๅ› ใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใซ้›ปๅญ้ก•ๅพฎ้กใง็‰นๅพด็š„็ถฒ็›ฎ็Šถๅค‰ๅŒ–ใ‚’่ชใ‚่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚็šฎ่†šๅŸบๅบ•่†œใ‚„็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎIVๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ่›‹็™ฝใฎ็•ฐๅธธใฎๆคœๅ‡บใŒ็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚้บไผๅญ่งฃๆžใ‚‚ๅฏ่ƒฝใงใ€็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200712" ; - terms:source ; - a owl:Class ; - rdfs:label "Alport's Syndrome"@en, "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Alport syndrome"@en ; - skos:closeMatch mondo:MONDO_0018965 ; + + nando:hasNotificationNumber "218" ; + dcterms:description "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พคใฏ้€ฒ่กŒๆ€ง้บไผๆ€ง่…Ž็‚Žใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใŒX้€ฃ้Ž–ๅž‹้บไผๅฝขๅผใ‚’็คบใ—ใ€ใใฎ้‡็—‡ไพ‹ใงใฏ็”ทๆ€งใง10ไปฃๅพŒๅŠใ‹ใ‚‰20ไปฃๅ‰ๅŠใซๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚่‹ฅๅนด้€ๆžๅฐŽๅ…ฅใฎไธปๅ› ใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใซ้›ปๅญ้ก•ๅพฎ้กใง็‰นๅพด็š„็ถฒ็›ฎ็Šถๅค‰ๅŒ–ใ‚’่ชใ‚่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚็šฎ่†šๅŸบๅบ•่†œใ‚„็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎIVๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ่›‹็™ฝใฎ็•ฐๅธธใฎๆคœๅ‡บใŒ็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚้บไผๅญ่งฃๆžใ‚‚ๅฏ่ƒฝใงใ€็ขบๅฎš่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200712" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alport's syndrome"@en, "ใ‚ใ‚‹ใฝใƒผใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Alport syndrome"@en, "Alport็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018965 ; skos:prefLabel "ใ‚ขใƒซใƒใƒผใƒˆ็—‡ๅ€™็พค"@ja . -:1200713 - :hasNotificationNumber "219" ; - terms:description "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ๏ผˆGalloway-Mowat๏ผ‰็—‡ๅ€™็พคใฏใ€่…Ž็ณธ็ƒไฝ“็กฌๅŒ–็—‡(ใƒใƒ•ใƒญใƒผใ‚ผ๏ผ‰ใ€ๅฐ้ ญ็—‡(ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•้…ๆปž)ใ‚’๏ผ’ไธปๅพดใจใ—ใ€้ก”้ขใƒปๅ››่‚ขๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200713" ; - terms:source ; - a owl:Class ; - rdfs:label "Galloway-Mowat syndrome"@en, "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009627 ; + + nando:hasNotificationNumber "219" ; + dcterms:description "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ๏ผˆGalloway-Mowat๏ผ‰็—‡ๅ€™็พคใฏใ€่…Ž็ณธ็ƒไฝ“็กฌๅŒ–็—‡(ใƒใƒ•ใƒญใƒผใ‚ผ๏ผ‰ใ€ๅฐ้ ญ็—‡(ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•้…ๆปž)ใ‚’๏ผ’ไธปๅพดใจใ—ใ€้ก”้ขใƒปๅ››่‚ขๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200713" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galloway-Mowat syndrome"@en, "ใŽใ‚ƒใ‚ใ†ใ‡ใ„ใƒปใ‚‚ใ‚ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Galloway-Mowat็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009627 ; skos:prefLabel "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja . -:1200714 - :hasNotificationNumber "220" ; - terms:description "่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒ็”Ÿใ˜ใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ—ใฆ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚้‡็ฏคใช็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็”Ÿๅ‘ฝไบˆๅพŒใ€่…ŽไบˆๅพŒใจใ‚‚ใซไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200714" ; - terms:source ; - a owl:Class ; - rdfs:label "Rapidly progressive glomerulonephritis"@en, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "crescenticย glomerulonephritis"@en ; - skos:closeMatch mondo:MONDO_0001645, mondo:MONDO_0017236 ; + + nando:hasNotificationNumber "220" ; + dcterms:description "่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒ็”Ÿใ˜ใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ—ใฆ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚้‡็ฏคใช็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็”Ÿๅ‘ฝไบˆๅพŒใ€่…ŽไบˆๅพŒใจใ‚‚ใซไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200714" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Rapidly progressive glomerulonephritis"@en, "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Crescentic glomerulonephritis"@en ; + skos:closeMatch obo:MONDO_0001645, obo:MONDO_0017236 ; skos:prefLabel "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200715 - :hasNotificationNumber "220" ; - terms:identifier "1200715" ; - terms:source ; + + nando:hasNotificationNumber "220" ; + dcterms:identifier "NANDO:1200715" ; + dcterms:source ; a owl:Class ; - rdfs:label "MPO-ANCAย positiveย rapidly progressive glomerulonephritis"@en, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "MPO-ANCAย associated crescenticย glomerulonephritis"@en ; + rdfs:label "MPO-ANCA positive rapidly progressive glomerulonephritis"@en, "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใˆใ‚€ใดใƒผใŠใƒผ-ใˆใƒผใˆใฌใ—ใƒผใˆใƒผใ‚ˆใ†ใ›ใ„๏ผ‰"@ja-Hira, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPO-ANCA associated crescentic glomerulonephritis"@en ; skos:prefLabel "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPO-ANCA้™ฝๆ€ง๏ผ‰"@ja . -:1200716 - :hasNotificationNumber "220" ; - terms:identifier "1200716" ; - terms:source ; + + nando:hasNotificationNumber "220" ; + dcterms:identifier "NANDO:1200716" ; + dcterms:source ; a owl:Class ; - rdfs:label "PR3-ANCAย positiveย rapidly progressive glomerulonephritis"@en, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "PR3-ANCA positive rapidly progressive glomerulonephritis"@en, "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใดใƒผใ‚ใƒผใ‚‹3-ใˆใƒผใˆใฌใ—ใƒผใˆใƒผใ‚ˆใ†ใ›ใ„๏ผ‰"@ja-Hira, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆPR3-ANCA้™ฝๆ€ง๏ผ‰"@ja . -:1200717 - :hasNotificationNumber "220" ; - terms:identifier "1200717" ; - terms:source ; + + nando:hasNotificationNumber "220" ; + dcterms:identifier "NANDO:1200717" ; + dcterms:source ; a owl:Class ; - rdfs:label "Anti-GBM rapidly progressive glomerulonephritis"@en, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Anti-GBM rapidly progressive glomerulonephritis"@en, "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ“ใ†ใ˜ใƒผใณใƒผใˆใ‚€ใ“ใ†ใŸใ„ใ‚ˆใ†ใ›ใ„๏ผ‰"@ja-Hira, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003136, obo:MONDO_0009303 ; skos:prefLabel "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๆŠ—GBMๆŠ—ไฝ“้™ฝๆ€ง๏ผ‰"@ja . -:1200718 - :hasNotificationNumber "221" ; - terms:description "่ก€ๆธ…ไธญๅˆใฏ่…Ž็ณธ็ƒไฝ“ใซๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œๆŠ—ไฝ“ใ‚’่ชใ‚ใ€ๅ…ธๅž‹ไพ‹ใงใฏ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒใŠใ“ใ‚Šใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ™ใ‚‹ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‡บ่ก€ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Šใ€่…ŽไบˆๅพŒใ€็”Ÿๅ‘ฝไบˆๅพŒใจใ‚‚ไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎ็ฎก็†ๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200718" ; - terms:source ; - a owl:Class ; - rdfs:label "Anti-GBM Nephritis"@en, "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Anti-glomerular basement membrane disease"@en ; - skos:closeMatch mondo:MONDO_0009303 ; + + nando:hasNotificationNumber "221" ; + dcterms:description "่ก€ๆธ…ไธญๅˆใฏ่…Ž็ณธ็ƒไฝ“ใซๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œๆŠ—ไฝ“ใ‚’่ชใ‚ใ€ๅ…ธๅž‹ไพ‹ใงใฏ่…Ž็ณธ็ƒไฝ“ใซๆ€ฅ้€Ÿใ‹ใคๆฟ€็ƒˆใช็‚Ž็—‡ใŒใŠใ“ใ‚Šใ€ๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆ้–“ใฎ็ตŒ้Žใง่…ŽๆฉŸ่ƒฝใŒๆ€ฅ้€ŸใซไฝŽไธ‹ใ™ใ‚‹ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‡บ่ก€ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Šใ€่…ŽไบˆๅพŒใ€็”Ÿๅ‘ฝไบˆๅพŒใจใ‚‚ไธ่‰ฏใง็ถญๆŒ้€ๆžใธ็งป่กŒใ—ใชใ„ๅ ดๅˆใ‚‚ๆ…ขๆ€ง่…Žไธๅ…จใจใ—ใฆใฎ็ฎก็†ๅŠ ็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคงๅŠใงใ‚ใ‚‹ใ€‚่…Ž็–พๆ‚ฃใฎไธญใงใ‚‚ๆœ€ใ‚‚ไบˆๅพŒใŒๆ‚ชใใ€ๆฒป็™‚ใซใ‚‚้›ฃๆธ‹ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200718" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Goodpasture syndrome"@en, "ใ“ใ†ใ—ใใ‚…ใ†ใŸใ„ใใฆใ„ใพใใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Anti-GBM nephritis"@en, "Anti-glomerular basement membrane disease"@en, "Goodpasture็—‡ๅ€™็พค"@ja, "ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009303 ; skos:prefLabel "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž"@ja . -:1200719 - :hasNotificationNumber "222" ; - terms:description "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏๅคง้‡ใฎ็ณธ็ƒไฝ“ๆ€ง่›‹็™ฝๅฐฟใ‚’ๆฅใ—ใ€ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚„ๆตฎ่…ซใŒๅ‡บ็พใ™ใ‚‹่…Ž็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆˆไบบใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ่จบๆ–ญๅŸบๆบ–ใฏใ€ๅฐฟ่›‹็™ฝ3.5๏ฝ‡/ๆ—ฅไปฅไธŠ๏ผˆ้šๆ™‚ๅฐฟใซใŠใ„ใฆๅฐฟ่›‹็™ฝ๏ผๅฐฟใ‚ฏใƒฌใ‚ขใƒใƒ‹ใƒณๆฏ”ใŒ3.5g/gCrไปฅไธŠใฎๅ ดๅˆใ‚‚ใ“ใ‚Œใซๆบ–ใšใ‚‹๏ผ‰ใŒ็ถ™็ถšใ—ใ€่ก€ๆธ…ใ‚ขใƒซใƒ–ใƒŸใƒณๅ€คใŒ3.0g/dLไปฅไธ‹ใซไฝŽไธ‹ใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๅŽŸๅ› ็–พๆ‚ฃใŒใ‚ใ‚‹ใ‚‚ใฎใŒไบŒๆฌกๆ€งใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ใ‚‚ใฎใŒไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใชใŠใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPGN๏ผ‰ใซใคใ„ใฆใฏใ€ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎๆฆ‚่ฆใ‚‚ๅ‚็…งใ™ใ‚‹ใ“ใจใ€‚"@ja ; - terms:identifier "1200719" ; - terms:source ; + + nando:hasNotificationNumber "222" ; + dcterms:description "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏๅคง้‡ใฎ็ณธ็ƒไฝ“ๆ€ง่›‹็™ฝๅฐฟใ‚’ๆฅใ—ใ€ไฝŽใ‚ขใƒซใƒ–ใƒŸใƒณ่ก€็—‡ใ‚„ๆตฎ่…ซใŒๅ‡บ็พใ™ใ‚‹่…Ž็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆˆไบบใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ่จบๆ–ญๅŸบๆบ–ใฏใ€ๅฐฟ่›‹็™ฝ3.5๏ฝ‡/ๆ—ฅไปฅไธŠ๏ผˆ้šๆ™‚ๅฐฟใซใŠใ„ใฆๅฐฟ่›‹็™ฝ๏ผๅฐฟใ‚ฏใƒฌใ‚ขใƒใƒ‹ใƒณๆฏ”ใŒ3.5g/gCrไปฅไธŠใฎๅ ดๅˆใ‚‚ใ“ใ‚Œใซๆบ–ใšใ‚‹๏ผ‰ใŒ็ถ™็ถšใ—ใ€่ก€ๆธ…ใ‚ขใƒซใƒ–ใƒŸใƒณๅ€คใŒ3.0g/dLไปฅไธ‹ใซไฝŽไธ‹ใ™ใ‚‹ใ“ใจใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๅŽŸๅ› ็–พๆ‚ฃใŒใ‚ใ‚‹ใ‚‚ใฎใŒไบŒๆฌกๆ€งใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ใ‚‚ใฎใŒไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใชใŠใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆMPGN๏ผ‰ใซใคใ„ใฆใฏใ€ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎๆฆ‚่ฆใ‚‚ๅ‚็…งใ™ใ‚‹ใ“ใจใ€‚"@ja ; + dcterms:identifier "NANDO:1200719" ; + dcterms:source ; a owl:Class ; - rdfs:label "Primary nephrotic syndrome"@en, "ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Primary nephrotic syndrome"@en, "ใ„ใกใ˜ใ›ใ„ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018170 ; skos:prefLabel "ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja . -:1200720 - :hasNotificationNumber "222" ; - terms:identifier "1200720" ; - terms:source ; + + nando:hasNotificationNumber "222" ; + dcterms:identifier "NANDO:1200720" ; + dcterms:source ; a owl:Class ; - rdfs:label "Minimal change nephrotic syndrome"@en, "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Minimal change nephrotic syndrome"@en, "ใณใ—ใ‚‡ใ†ใธใ‚“ใ‹ใŒใŸใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "MCNS"@en ; - skos:closeMatch mondo:MONDO_0006835 ; + skos:closeMatch obo:MONDO_0006835 ; skos:prefLabel "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja . -:1200721 - :hasNotificationNumber "222" ; - terms:identifier "1200721" ; - terms:source ; + + nando:hasNotificationNumber "222" ; + dcterms:identifier "NANDO:1200721" ; + dcterms:source ; a owl:Class ; - rdfs:label "Membranous nephropathy"@en, "่†œๆ€ง่…Ž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005376 ; + rdfs:label "Membranous nephropathy"@en, "ใพใใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่†œๆ€ง่…Ž็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005376 ; skos:prefLabel "่†œๆ€ง่…Ž็—‡"@ja . -:1200722 - :hasNotificationNumber "222" ; - terms:identifier "1200722" ; - terms:source ; + + nando:hasNotificationNumber "222" ; + dcterms:identifier "NANDO:1200722" ; + dcterms:source ; a owl:Class ; - rdfs:label "Focal segmental glomerulosclerosis"@en, "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Focal segmental glomerulosclerosis"@en, "ใใ†ใ˜ใ‚‡ใ†ใถใ‚“ใ›ใคใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "FSGS"@en ; - skos:closeMatch mondo:MONDO_0005363 ; + skos:closeMatch obo:MONDO_0005363 ; skos:prefLabel "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡"@ja . -:1200723 - :hasNotificationNumber "222" ; - terms:identifier "1200723" ; - terms:source ; + + nando:hasNotificationNumber "222" ; + dcterms:identifier "NANDO:1200723" ; + dcterms:source ; a owl:Class ; - rdfs:label "Crescentic Glomerulonephritis"@en, "ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001645, mondo:MONDO_0017236 ; + rdfs:label "Crescentic glomerulonephritis"@en, "ใฏใ‚“ใ’ใคใŸใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001645, obo:MONDO_0017236 ; skos:prefLabel "ๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200724 - :hasNotificationNumber "222" ; - terms:identifier "1200724" ; - terms:source ; + + nando:hasNotificationNumber "222" ; + dcterms:identifier "NANDO:1200724" ; + dcterms:source ; a owl:Class ; - rdfs:label "Endocapillary proliferative glomerulonephritis"@en, "็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Endocapillary proliferative glomerulonephritis"@en, "ใ‹ใ‚“ใชใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็ฎกๅ†…ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200725 - :hasNotificationNumber "223" ; - terms:description "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏใ€ๅ…‰ๅญฆ้ก•ๅพฎ้กๆ‰€่ฆ‹ใง็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽš๏ผˆๅŸบๅบ•่†œไบŒ้‡ๅŒ–๏ผ‰ใจๅˆ†่‘‰็Šถใฎ็ดฐ่ƒžๅข—ๆฎ–็—…ๅค‰ใจใ„ใฃใŸ็‰นๅพด็š„ใช็ต„็น”็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ใใฎๅฝขๆ…‹ใ‚ˆใ‚ŠIๅž‹ใ€IIๅž‹๏ผˆ็พๅœจใฎใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…๏ผ‰ใ€IIIๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€็„ก็—‡ๅ€™ๆ€งใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž็‚Žใ€ๆ…ขๆ€ง่…Ž็‚Žใ‚ใ‚‹ใ„ใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใง็™บ็—‡ใ—ใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ไธ€ๆฌกๆ€งใจ็จฎใ€…ใฎๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใ‚„ๆ„ŸๆŸ“็—‡ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ€ๆฌกๆ€งใฏใ€๏ผ˜๏ฝž30ๆญณไปฃใฎ่‹ฅๅนดๅฑคใ‚’ไธปใจใ—ใ€ใใ‚Œไปฅ้™ใฏใ€ไบŒๆฌกๆ€งใŒไธปใงใ‚ใ‚‹ใ€‚ใพใŸใ€้บไผ็š„่ฆๅ› ใซใ‚ˆใ‚‹่ฃœไฝ“็ตŒ่ทฏใฎ่ชฟ็ฏ€็•ฐๅธธใซใ‚ˆใฃใฆ้กžไผผ็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "1200725" ; - terms:source ; - a owl:Class ; - rdfs:label "Primary membranoproliferative glomerulonephritis"@en, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ๅ‚ๅฃๅˆ†้กž๏ผˆhttps://www.jstage.jst.go.jp/article/jpnjnephrol1959/26/6/26_6_671/_pdf/-char/ja๏ผ‰"@ja ; - skos:closeMatch mondo:MONDO_0018904 ; + + nando:hasNotificationNumber "223" ; + dcterms:description "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏใ€ๅ…‰ๅญฆ้ก•ๅพฎ้กๆ‰€่ฆ‹ใง็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽš๏ผˆๅŸบๅบ•่†œไบŒ้‡ๅŒ–๏ผ‰ใจๅˆ†่‘‰็Šถใฎ็ดฐ่ƒžๅข—ๆฎ–็—…ๅค‰ใจใ„ใฃใŸ็‰นๅพด็š„ใช็ต„็น”็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ใใฎๅฝขๆ…‹ใ‚ˆใ‚ŠIๅž‹ใ€IIๅž‹๏ผˆ็พๅœจใฎใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…๏ผ‰ใ€IIIๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€็„ก็—‡ๅ€™ๆ€งใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž็‚Žใ€ๆ…ขๆ€ง่…Ž็‚Žใ‚ใ‚‹ใ„ใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใง็™บ็—‡ใ—ใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ็–พๆ‚ฃใŒใชใ„ไธ€ๆฌกๆ€งใจ็จฎใ€…ใฎๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใ‚„ๆ„ŸๆŸ“็—‡ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ€ๆฌกๆ€งใฏใ€๏ผ˜๏ฝž30ๆญณไปฃใฎ่‹ฅๅนดๅฑคใ‚’ไธปใจใ—ใ€ใใ‚Œไปฅ้™ใฏใ€ไบŒๆฌกๆ€งใŒไธปใงใ‚ใ‚‹ใ€‚ใพใŸใ€้บไผ็š„่ฆๅ› ใซใ‚ˆใ‚‹่ฃœไฝ“็ตŒ่ทฏใฎ่ชฟ็ฏ€็•ฐๅธธใซใ‚ˆใฃใฆ้กžไผผ็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200725" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary membranoproliferative glomerulonephritis"@en, "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Primary MPGN"@en ; + skos:closeMatch obo:MONDO_0018904 ; skos:prefLabel "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200726 - :hasNotificationNumber "223" ; - terms:identifier "1200726" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… "@en, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ… ๅž‹"@ja . - -:1200727 - :hasNotificationNumber "223" ; - terms:identifier "1200727" ; - terms:source ; - a owl:Class ; - rdfs:label "mesangial proliferative GN,slight"@en, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "post MPGN"@en, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž 1aๅž‹"@ja ; + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200726" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary membranoproliferative glomerulonephritis type I"@en, "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“1ใŒใŸ"@ja-Hira, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MPGN type I"@en ; + skos:closeMatch obo:MONDO_0014005 ; + skos:prefLabel "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIๅž‹"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200727" ; + a owl:Class ; + rdfs:label "Slight mesangial proliferative glomerulonephritis"@en, "ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ•ใ„ใผใ†ใ‘ใ„ใฉใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Mild MesPGN"@en ; skos:prefLabel "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒž่ปฝๅบฆๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200728 - :hasNotificationNumber "223" ; - terms:identifier "1200728" ; - terms:source ; + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200728" ; a owl:Class ; - rdfs:label "mesangial proliferative GN,moderate"@en, "ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "pre MPGN"@en, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž 1bๅž‹"@ja ; + rdfs:label "Moderate mesangial proliferative glomerulonephritis"@en, "ใกใ‚…ใ†ใจใ†ใฉใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ•ใ„ใผใ†ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Moderate MesPGN"@en ; skos:prefLabel "ไธญ็ญ‰ๅบฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200729 - :hasNotificationNumber "223" ; - terms:identifier "1200729" ; - terms:source ; + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200729" ; + dcterms:source ; a owl:Class ; - rdfs:label "MPGN typeโ… ,chronic,focal"@en, "ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Chronic focal membranoproliferative glomerulonephritis type I"@en, "ใพใ‚“ใ›ใ„ใƒปใใ†ใ˜ใ‚‡ใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Chronic, focal MPGN type I"@en ; skos:prefLabel "ๆ…ขๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200730 - :hasNotificationNumber "223" ; - terms:identifier "1200730" ; - terms:source ; + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200730" ; + dcterms:source ; a owl:Class ; - rdfs:label "MPGN typeโ… ,acute,focal"@en, "ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Acute focal membranoproliferative glomerulonephritis type I"@en, "ใใ‚…ใ†ใ›ใ„ใƒปใใ†ใ˜ใ‚‡ใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acute, focal MPGN type I"@en ; skos:prefLabel "ๆ€ฅๆ€งใƒปๅทฃ็Šถๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200731 - :hasNotificationNumber "223" ; - terms:identifier "1200731" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… ,chronic diffuse,slight"@en, "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4aๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4aๅž‹"@ja . - -:1200732 - :hasNotificationNumber "223" ; - terms:identifier "1200732" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… ,chronic diffuse,non-lobular"@en, "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4bๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4bๅž‹"@ja . - -:1200733 - :hasNotificationNumber "223" ; - terms:identifier "1200733" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… ,chronic diffuse,moderate"@en, "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4cๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€4cๅž‹"@ja . - -:1200734 - :hasNotificationNumber "223" ; - terms:identifier "1200734" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… ,acute diffuse,endocapillary"@en, "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5aๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5aๅž‹"@ja . - -:1200735 - :hasNotificationNumber "223" ; - terms:identifier "1200735" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… ,acute diffuse,moderate"@en, "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5bๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5bๅž‹"@ja . - -:1200736 - :hasNotificationNumber "223" ; - terms:identifier "1200736" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… ,acute diffuse,marked"@en, "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5cๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€€5cๅž‹"@ja . - -:1200737 - :hasNotificationNumber "223" ; - terms:identifier "1200737" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ… ,lobular"@en, "ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200731" ; + a owl:Class ; + rdfs:label "Chronic diffuse moderate membranoproliferative glomerulonephritis type I"@en, "ใ‘ใ„ใฉใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "่ปฝๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Chronic, diffuse, moderate MPGN type I"@en ; + skos:prefLabel "่ปฝๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200732" ; + a owl:Class ; + rdfs:label "Chronic diffuse non-lobular glomerulonephritis type I"@en, "ใฒใถใ‚“ใ‚ˆใ†ใŒใŸใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "้žๅˆ†่‘‰ๅž‹ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Chronic, diffuse, non-lobular MPGN type I"@en ; + skos:prefLabel "้žๅˆ†่‘‰ๅž‹ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200733" ; + a owl:Class ; + rdfs:label "Chronic diffuse moderate membranoproliferative glomerulonephritis type I"@en, "ใกใ‚…ใ†ใจใ†ใฉใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ไธญ็ญ‰ๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Chronic, diffuse, moderate MPGN type I"@en ; + skos:prefLabel "ไธญ็ญ‰ๅบฆๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200734" ; + a owl:Class ; + rdfs:label "Acute diffuse endocapillary membranoproliferative glomerulonephritis type I"@en, "ใ‹ใ‚“ใชใ„ใžใ†ใ—ใ‚‡ใใŒใŸใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "็ฎกๅ†…ๅข—ๆฎ–ๅž‹ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acute, diffuse, endocapillary MPGN type I"@en ; + skos:prefLabel "็ฎกๅ†…ๅข—ๆฎ–ๅž‹ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200735" ; + a owl:Class ; + rdfs:label "Acute diffuse moderate membranoproliferative glomerulonephritis type I"@en, "ใกใ‚…ใ†ใจใ†ใฉใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ไธญ็ญ‰ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acute, diffuse, moderate MPGN type I"@en ; + skos:prefLabel "ไธญ็ญ‰ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200736" ; + a owl:Class ; + rdfs:label "Acute diffuse marked membranoproliferative glomerulonephritis type I"@en, "ใ“ใ†ใฉใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "้ซ˜ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acute diffuse, marked MPGN type I"@en ; + skos:prefLabel "้ซ˜ๅบฆๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200737" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lobular membranoproliferative glomerulonephritis type I"@en, "ใถใ‚“ใ‚ˆใ†ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Lobular MPGN type I"@en ; + skos:closeMatch obo:MONDO_0002461 ; skos:prefLabel "ๅˆ†่‘‰ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200738 - :hasNotificationNumber "223" ; - terms:identifier "1200738" ; - terms:source ; + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200738" ; + dcterms:source ; a owl:Class ; - rdfs:label "MPGN typeโ… ,end stage"@en, "็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "End-stage membranoproliferative glomerulonephritis type I"@en, "ใ—ใ‚…ใ†ใพใคใใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "End stage MPGN type 1"@en ; skos:prefLabel "็ต‚ๆœซๆœŸๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:1200739 - :hasNotificationNumber "223" ; - terms:identifier "1200739" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ…ก"@en, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…กๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "dense deposit disease"@en, "ใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…"@ja ; - skos:closeMatch mondo:MONDO_0019736 ; - skos:prefLabel "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…กๅž‹"@ja . - -:1200740 - :hasNotificationNumber "223" ; - terms:identifier "1200740" ; - terms:source ; - a owl:Class ; - rdfs:label "MPGN typeโ…ข"@en, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…ขๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žโ…ขๅž‹"@ja . - -:1200741 - :hasNotificationNumber "224" ; - terms:description "่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฎไธ€็—‡็Šถใจใ—ใฆใฟใ‚‰ใ‚Œใ‚‹่…Ž็‚Žใงใ€็ดซๆ–‘็—…ใซไผดใ„ใ€็ณธ็ƒไฝ“ใซIgAใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฏใ€ๅ…็–ซๅญฆ็š„ๅๅฟœใซ่ตทๅ› ใ™ใ‚‹ๅ…จ่บซๆ€งใฎๅฐ่ก€็ฎก็‚Žใงใ€็ดซๆ–‘ใ‚’ใฏใ˜ใ‚ใจใ—ใŸ็šฎ่†š็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€้–ข็ฏ€็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใŠใ‚ˆใๅŠๆ•ฐใฎไพ‹ใŒ่…Ž็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200741" ; - terms:source ; - a owl:Class ; - rdfs:label "Purpura nephritis"@en, "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200739" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary membranoproliferative glomerulonephritis type II"@en, "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“2ใŒใŸ"@ja-Hira, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Dense deposit disease"@en, "MPGN type II"@en, "ใƒ‡ใƒณใ‚นใƒ‡ใƒใ‚ธใƒƒใƒˆ็—…"@ja ; + skos:closeMatch obo:MONDO_0019736 ; + skos:prefLabel "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIๅž‹"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1200740" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary membranoproliferative glomerulonephritis type III"@en, "ใ„ใกใ˜ใ›ใ„ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“3ใ‹ใŸ"@ja-Hira, "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPGN type III"@en ; + skos:prefLabel "ไธ€ๆฌกๆ€ง่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽIIIๅž‹"@ja . + + + nando:hasNotificationNumber "224" ; + dcterms:description "่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฎไธ€็—‡็Šถใจใ—ใฆใฟใ‚‰ใ‚Œใ‚‹่…Ž็‚Žใงใ€็ดซๆ–‘็—…ใซไผดใ„ใ€็ณธ็ƒไฝ“ใซIgAใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚่ก€็ฎกๆ€ง็ดซๆ–‘็—…ใฏใ€ๅ…็–ซๅญฆ็š„ๅๅฟœใซ่ตทๅ› ใ™ใ‚‹ๅ…จ่บซๆ€งใฎๅฐ่ก€็ฎก็‚Žใงใ€็ดซๆ–‘ใ‚’ใฏใ˜ใ‚ใจใ—ใŸ็šฎ่†š็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€้–ข็ฏ€็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใŠใ‚ˆใๅŠๆ•ฐใฎไพ‹ใŒ่…Ž็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200741" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Henoch-Schonlein purpura nephritis"@en, "ใ—ใฏใ‚“ใณใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HSPN"@en, "Henoch-Schรถnlein purpura nephritis"@en ; + skos:closeMatch obo:MONDO_0006785 ; skos:prefLabel "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž"@ja . -:1200742 - :hasNotificationNumber "225" ; - terms:description "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "1200742" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital nephrogenic diabetes insipidus"@en, "ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Nephrogenic diabetes insipidus"@en ; - skos:closeMatch mondo:MONDO_0016383 ; + + nando:hasNotificationNumber "225" ; + dcterms:description "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:1200742" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital nephrogenic diabetes insipidus"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ˜ใ‚“ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Nephrogenic diabetes insipidus"@en, "้บไผๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡"@ja ; + skos:closeMatch obo:MONDO_0016383 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่…Žๆ€งๅฐฟๅดฉ็—‡"@ja . -:1200743 - :hasNotificationNumber "226" ; - terms:description "้–“่ณชๆ€ง่†€่ƒฑ็‚Žใจใฏใ€ใ€Œ่†€่ƒฑใฎ้ž็‰น็•ฐ็š„ใชๆ…ขๆ€ง็‚Ž็—‡ใ‚’ไผดใ„ใ€้ ปๅฐฟใƒปๅฐฟๆ„ไบข้€ฒใƒปๅฐฟๆ„ๅˆ‡่ฟซๆ„Ÿใƒป่†€่ƒฑ็—›ใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€๏ผˆ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž่จบ็™‚ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใซใ‚ˆใ‚‹๏ผ‰ใงใ‚ใ‚‹ใ€‚ใใฎ็—…ๅž‹ใฏใƒใƒณใƒŠๅž‹๏ผˆใƒใƒณใƒŠ็—…ๅค‰ใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎ๏ผ‰ใจ้žใƒใƒณใƒŠๅž‹๏ผˆๆœ‰ใ—ใชใ„ใ‚‚ใฎ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ€ใƒใƒณใƒŠๅž‹ใฏๅ†…่ฆ–้ก็š„ใซใ‚‚็—…็†ๅญฆ็š„ใซใ‚‚ๆ˜Ž็ขบใช็•ฐๅธธๆ‰€่ฆ‹ใ‚’ๆœ‰ใ—ใ€็—‡็Šถ็š„ใซใ‚‚ใ‚ˆใ‚Š้‡็—‡ใงใ‚ใ‚‹ใ€‚ไธญ้ซ˜้ฝขใฎๅฅณๆ€งใซๅคšใ„ใŒใ€็”ทๆ€งใ‚„ๅฐๅ…ใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€่†€่ƒฑ็ฒ˜่†œใฎๆฉŸ่ƒฝ้šœๅฎณใ‚„ๅ…็–ซๅญฆ็š„ๆฉŸๅบใŒๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ปๅ›žใชๆŽ’ๅฐฟใ‚„่†€่ƒฑใฎ็—›ใฟใซใ‚ˆใ‚‹่‹ฆ็—›ใ‹ใ‚‰็”Ÿๆดปใฎ่ณชใฏๅคงใใๆใชใ‚ใ‚Œใ‚‹ใ€‚็ขบ็ซ‹ใ—ใŸๆฒป็™‚ๆณ•ใฏใชใใ€ๅฏพ็—‡็š„ใชๆฒป็™‚ใซ็•™ใพใ‚‹ใ€‚ๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ—้•ทๆœŸใซใ‚ใŸใ‚‹ๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200743" ; - terms:source ; - a owl:Class ; - rdfs:label "Interstitial Cystitis ๏ผˆHunner type๏ผ‰"@en, "้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Interstitial cystitis"@en, "Interstitial cystitis with Hunners ulcer"@en ; - skos:closeMatch mondo:MONDO_0018301 ; + + nando:hasNotificationNumber "226" ; + dcterms:description "้–“่ณชๆ€ง่†€่ƒฑ็‚Žใจใฏใ€ใ€Œ่†€่ƒฑใฎ้ž็‰น็•ฐ็š„ใชๆ…ขๆ€ง็‚Ž็—‡ใ‚’ไผดใ„ใ€้ ปๅฐฟใƒปๅฐฟๆ„ไบข้€ฒใƒปๅฐฟๆ„ๅˆ‡่ฟซๆ„Ÿใƒป่†€่ƒฑ็—›ใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€๏ผˆ้–“่ณชๆ€ง่†€่ƒฑ็‚Ž่จบ็™‚ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใซใ‚ˆใ‚‹๏ผ‰ใงใ‚ใ‚‹ใ€‚ใใฎ็—…ๅž‹ใฏใƒใƒณใƒŠๅž‹๏ผˆใƒใƒณใƒŠ็—…ๅค‰ใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎ๏ผ‰ใจ้žใƒใƒณใƒŠๅž‹๏ผˆๆœ‰ใ—ใชใ„ใ‚‚ใฎ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ€ใƒใƒณใƒŠๅž‹ใฏๅ†…่ฆ–้ก็š„ใซใ‚‚็—…็†ๅญฆ็š„ใซใ‚‚ๆ˜Ž็ขบใช็•ฐๅธธๆ‰€่ฆ‹ใ‚’ๆœ‰ใ—ใ€็—‡็Šถ็š„ใซใ‚‚ใ‚ˆใ‚Š้‡็—‡ใงใ‚ใ‚‹ใ€‚ไธญ้ซ˜้ฝขใฎๅฅณๆ€งใซๅคšใ„ใŒใ€็”ทๆ€งใ‚„ๅฐๅ…ใซใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅŽŸๅ› ใฏไธๆ˜Žใงใ€่†€่ƒฑ็ฒ˜่†œใฎๆฉŸ่ƒฝ้šœๅฎณใ‚„ๅ…็–ซๅญฆ็š„ๆฉŸๅบใŒๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ปๅ›žใชๆŽ’ๅฐฟใ‚„่†€่ƒฑใฎ็—›ใฟใซใ‚ˆใ‚‹่‹ฆ็—›ใ‹ใ‚‰็”Ÿๆดปใฎ่ณชใฏๅคงใใๆใชใ‚ใ‚Œใ‚‹ใ€‚็ขบ็ซ‹ใ—ใŸๆฒป็™‚ๆณ•ใฏใชใใ€ๅฏพ็—‡็š„ใชๆฒป็™‚ใซ็•™ใพใ‚‹ใ€‚ๅ†็‡ƒใจๅฏ›่งฃใ‚’็นฐใ‚Š่ฟ”ใ—้•ทๆœŸใซใ‚ใŸใ‚‹ๅŒปๅญฆ็ฎก็†ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200743" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Interstitial cystitis (Hunner type)"@en, "ใ‹ใ‚“ใ—ใคใ›ใ„ใผใ†ใ“ใ†ใˆใ‚“(ใฏใ‚“ใชใŒใŸ)"@ja-Hira, "้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Interstitial cystitis"@en, "Interstitial cystitis with Hunner's ulcer"@en ; + skos:closeMatch obo:MONDO_0018301 ; skos:prefLabel "้–“่ณชๆ€ง่†€่ƒฑ็‚Ž๏ผˆใƒใƒณใƒŠๅž‹๏ผ‰"@ja . -:1200744 - :hasNotificationNumber "227" ; - terms:description "ใ‚ชใ‚นใƒฉใƒผ็—…๏ผˆ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผ‰ใฏใ€๏ผ‘๏ผŽ้ผปๅ‡บ่ก€ใ€๏ผ’๏ผŽ่ˆŒใƒปๅฃ่…”็ฒ˜่†œใƒปๆŒ‡ใƒป้ผปใฎๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€๏ผ“๏ผŽๅ†…่‡“็—…ๅค‰๏ผˆ่ƒƒ่…ธๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€่‚บใ€่‚ใ€่„ณใ€่„Š้ซ„ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ€ ๏ผ”๏ผŽๅฎถๆ—ๆญด๏ผˆ้บไผๆ€ง๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200744" ; - terms:source ; - a owl:Class ; - rdfs:label "Osler disease"@en, "ใ‚ชใ‚นใƒฉใƒผ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Hereditary hemorrhagic telangiectasia"@en, "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡"@ja ; - skos:closeMatch mondo:MONDO_0019180 ; + + nando:hasNotificationNumber "227" ; + dcterms:description "ใ‚ชใ‚นใƒฉใƒผ็—…๏ผˆ้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผ‰ใฏใ€๏ผ‘๏ผŽ้ผปๅ‡บ่ก€ใ€๏ผ’๏ผŽ่ˆŒใƒปๅฃ่…”็ฒ˜่†œใƒปๆŒ‡ใƒป้ผปใฎๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€๏ผ“๏ผŽๅ†…่‡“็—…ๅค‰๏ผˆ่ƒƒ่…ธๆœซๆขข่ก€็ฎกๆ‹กๅผตใ€่‚บใ€่‚ใ€่„ณใ€่„Š้ซ„ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ€ ๏ผ”๏ผŽๅฎถๆ—ๆญด๏ผˆ้บไผๆ€ง๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200744" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Osler disease"@en, "ใŠใ™ใ‚‰ใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚ชใ‚นใƒฉใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Hereditary haemorrhagic telangiectasia"@en, "Hereditary hemorrhagic telangiectasia"@en, "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡"@ja ; + skos:closeMatch obo:MONDO_0019180 ; skos:prefLabel "ใ‚ชใ‚นใƒฉใƒผ็—…"@ja . -:1200745 - :hasNotificationNumber "228" ; - terms:description "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Žใฏใ€็‰น็™บๆ€งใ‚‚ใ—ใใฏๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚Šๆœซๆขขๆฐ—้“ใงใ‚ใ‚‹็ดฐๆฐ—็ฎกๆ”ฏใฎไธๅฏ้€†็š„้–‰ๅกžใ‚’ๆฅใ™ใ“ใจใซใ‚ˆใ‚Šๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200745" ; - terms:source ; + + nando:hasNotificationNumber "228" ; + dcterms:description "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Žใฏใ€็‰น็™บๆ€งใ‚‚ใ—ใใฏๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚Šๆœซๆขขๆฐ—้“ใงใ‚ใ‚‹็ดฐๆฐ—็ฎกๆ”ฏใฎไธๅฏ้€†็š„้–‰ๅกžใ‚’ๆฅใ™ใ“ใจใซใ‚ˆใ‚Šๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200745" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bronchiolitis obliterans"@en, "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Bronchiolitis obliterans"@en, "ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“"@ja-Hira, "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Obliterating bronchiolitis"@en ; - skos:closeMatch mondo:MONDO_0015265 ; + skos:closeMatch obo:MONDO_0015265 ; skos:prefLabel "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja . -:1200746 - :hasNotificationNumber "229" ; - terms:description "่‚บ่ƒž่›‹็™ฝ็—‡๏ผˆPAP๏ผ‰ใฏ1958ๅนดRosenใ‚‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€ๆˆ‘ใŒๅ›ฝใงใฏ1960ๅนดๅฒกใ‚‰ใซใ‚ˆใฃใฆ็ดนไป‹ใ•ใ‚ŒใŸ็จ€ๅฐ‘่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ่ƒž่›‹็™ฝ็—‡ใฏใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆใฎ็”Ÿๆˆๅˆใฏๅˆ†่งฃ้Ž็จ‹้šœๅฎณใซใ‚ˆใ‚Š่‚บ่ƒž่…”ๅ†…ใ‚’ไธปใจใ—ใฆๆœซๆขขๆฐ—่…”ๅ†…ใซใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆ็”ฑๆฅ็‰ฉ่ณชใงใ‚ใ‚‹ๅฅฝ้…ธๆ€งใฎ้ก†็ฒ’็Šถใฎ่›‹็™ฝๆง˜็‰ฉ่ณชใฎ็•ฐๅธธ่ฒฏ็•™ใ‚’ๆฅใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆŒ‡ๅฎš้›ฃ็—…ใฏใ€่‡ชๅทฑๅ…็–ซๆ€งPAPใจๅ…ˆๅคฉๆ€งPAPใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200746" ; - terms:source ; - a owl:Class ; - rdfs:label "pulmonary alveolar proteinosis"@en, "่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Congenital pulmonary alveolar proteinosis"@en, "Hereditary pulmonary alveolar proteinosis"@en ; - skos:closeMatch mondo:MONDO_0001437, mondo:MONDO_0012580 ; + + nando:hasNotificationNumber "229" ; + dcterms:description "่‚บ่ƒž่›‹็™ฝ็—‡๏ผˆPAP๏ผ‰ใฏ1958ๅนดRosenใ‚‰ใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€ๆˆ‘ใŒๅ›ฝใงใฏ1960ๅนดๅฒกใ‚‰ใซใ‚ˆใฃใฆ็ดนไป‹ใ•ใ‚ŒใŸ็จ€ๅฐ‘่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ่ƒž่›‹็™ฝ็—‡ใฏใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆใฎ็”Ÿๆˆๅˆใฏๅˆ†่งฃ้Ž็จ‹้šœๅฎณใซใ‚ˆใ‚Š่‚บ่ƒž่…”ๅ†…ใ‚’ไธปใจใ—ใฆๆœซๆขขๆฐ—่…”ๅ†…ใซใ‚ตใƒผใƒ•ใ‚กใ‚ฏใ‚ฟใƒณใƒˆ็”ฑๆฅ็‰ฉ่ณชใงใ‚ใ‚‹ๅฅฝ้…ธๆ€งใฎ้ก†็ฒ’็Šถใฎ่›‹็™ฝๆง˜็‰ฉ่ณชใฎ็•ฐๅธธ่ฒฏ็•™ใ‚’ๆฅใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆŒ‡ๅฎš้›ฃ็—…ใฏใ€่‡ชๅทฑๅ…็–ซๆ€งPAPใจๅ…ˆๅคฉๆ€งPAPใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200746" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pulmonary alveolar proteinosis"@en, "ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†"@ja-Hira, "่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PAP"@en ; + skos:closeMatch obo:MONDO_0001437, obo:MONDO_0012580 ; skos:prefLabel "่‚บ่ƒž่›‹็™ฝ็—‡"@ja . -:1200747 - :hasNotificationNumber "229" ; - terms:identifier "1200747" ; - terms:source ; + + nando:hasNotificationNumber "229" ; + dcterms:identifier "NANDO:1200747" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune pulmonary alveolar proteinosis"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012579 ; + rdfs:label "Autoimmune pulmonary alveolar proteinosis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "aPAP"@en, "่‡ชๅทฑๅ…็–ซๆ€งPAP"@ja ; + skos:closeMatch obo:MONDO_0012579 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja . -:1200748 - :hasNotificationNumber "229" ; - terms:identifier "1200748" ; - terms:source ; + + nando:hasNotificationNumber "229" ; + dcterms:identifier "NANDO:1200748" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic pulmonary alveolar proteinosis"@en, "็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012579 ; + rdfs:label "Idiopathic pulmonary alveolar proteinosis"@en, "ใจใใฏใคใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "I-PAP"@en ; + skos:closeMatch obo:MONDO_0012579 ; skos:prefLabel "็‰น็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja . -:1200749 - :hasNotificationNumber "229" ; - terms:identifier "1200749" ; - terms:source ; + + nando:hasNotificationNumber "229" ; + dcterms:identifier "NANDO:1200749" ; + dcterms:source ; a owl:Class ; - rdfs:label "Secondary Pulmonary Alveolar Proteinosis"@en, "็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018483 ; + rdfs:label "Secondary Pulmonary Alveolar Proteinosis"@en, "ใžใใฏใคใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†"@ja-Hira, "็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "S-PAP"@en ; + skos:closeMatch obo:MONDO_0018483 ; skos:prefLabel "็ถš็™บๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja . -:1200750 - :hasNotificationNumber "229" ; - terms:identifier "1200750" ; - terms:source ; + + nando:hasNotificationNumber "229" ; + dcterms:identifier "NANDO:1200750" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital pulmonary alveolar proteinosis"@en, "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Hereditary pulmonary alveolar proteinosis"@en ; - skos:closeMatch mondo:MONDO_0012580 ; + rdfs:label "Congenital alveolar proteinosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "C-PAP"@en, "Congenital PAP"@en, "Congenital pulmonary alveolar proteinosis"@en, "Hereditary pulmonary alveolar proteinosis"@en, "ๅ…ˆๅคฉๆ€งPAP"@ja ; + skos:closeMatch obo:MONDO_0012580 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja . -:1200751 - :hasNotificationNumber "230" ; - terms:description "็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—้šœๅฎณ๏ผˆsleep related hypoventilation disorders๏ผ‰ใซใฏไปฅไธ‹ใฎ๏ผ–็—…ๆ…‹ใŒๅซใพใ‚Œใ‚‹ใ€‚โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘กๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital central hypoventilation syndrome: CCHS๏ผ‰ใ€โ‘ข่ฆ–ๅบŠไธ‹้ƒจๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้…็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—ใ€โ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘ค่–ฌๅ‰คใ‚„็‰ฉ่ณชใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€โ‘ฅ่บซไฝ“้šœๅฎณใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€‚ใ“ใ‚Œใ‚‰ใฎไธญใงใ€โ‘ขใ€โ‘คใ€โ‘ฅใ‚’้™คๅค–ใ—ใ€โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎไธ€้ƒจ๏ผˆ่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใŒCPAPใซใ‚ˆใ‚‹ๆฒป็™‚ใงใ‚‚ๆ”นๅ–„ใ—ใชใ„ๅ ดๅˆใ‚’ใ„ใ†ใ€‚๏ผ‰ใ€โ‘กCCHSใ€ใŠใ‚ˆใณโ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใคใ„ใฆใฏใ€่‚บ่ƒžไฝŽๆ›ๆฐ—ใฎไธปใŸใ‚‹็—…ๆ…‹ใจใ—ใฆๅ‘ผๅธ่ชฟ็ฏ€็ณปใฎ็•ฐๅธธใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ‚’่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆalveolar hypoventilation syndrome:AHS๏ผ‰ใจใ™ใ‚‹ใ€‚่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใŠใ‘ใ‚‹่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่‚ฅๆบ€ใฎๅญ˜ๅœจใจใฏ้–ขไฟ‚ใ—ใชใ„ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏๆง˜ใ€…ใช็—…ๆ…‹ใง่ตทใ“ใ‚Šๅพ—ใ‚‹ใฎใงใ€ไบŒๆฌกๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎ้‘‘ๅˆฅใ‚’ใ—ใฆใ€AHSใฎ่จบๆ–ญใ‚’ใ™ใ‚‹ใ€‚้›ฃๆฒปๆ€ง็จ€ๅฐ‘ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็™บ็—‡ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ๅ‘ผๅธไธญๆžขๆฉŸ่ƒฝ็•ฐๅธธใซ้–ขไฟ‚ใ—ใŸ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—๏ผˆ่ฆš้†’ใ‹ใ‚‰็ก็œ ใซใชใ‚‹ใจๅ‘ผๅธ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚๏ผ‰ใ€ๅ‘ผๅธ่ชฟ็ฏ€็•ฐๅธธ๏ผˆ็„กๆ„่ญ˜ใงใฏ็”Ÿ็†ๅญฆ็š„ใซๆญฃๅธธใชๅ‘ผๅธ็Šถๆ…‹ใ‚’็ถญๆŒใงใใชใ„ใ€‚๏ผ‰ใŒ็—…ๆ…‹ใฎไธปไฝ“ใงใ‚ใ‚‹ใ€‚AHSใฏใ€ๅ‘ผๅธๅ™จใƒป่ƒธ้ƒญใƒป่‚บๆฉŸ่ƒฝไธŠใซๆ˜Žใ‚‰ใ‹ใช็•ฐๅธธใŒใชใ„ใ€ใพใŸใฏ่ปฝๅบฆใฎ็•ฐๅธธใŒใ‚ใฃใฆใ‚‚AHSใฎไธปใŸใ‚‹ๅŽŸๅ› ใจใฏ่€ƒใˆใ‚‰ใ‚Œใชใ„ใ€‚ใ™ใชใ‚ใกใ€ๅ‘ผๅธ่ชฟ็ฏ€ไธŠใฎ็•ฐๅธธใŒไธปใŸใ‚‹็—…ๆ…‹ใง็ก็œ ๆ™‚ใซ่‚บ่ƒžไฝŽๆ›ๆฐ—๏ผˆ้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใจไฝŽ้…ธ็ด ่ก€็—‡๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่ฆš้†’ไธญใ‚ˆใ‚Šใ‚‚็ก็œ ไธญใซๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200751" ; - terms:source ; + + nando:hasNotificationNumber "230" ; + dcterms:description "็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—้šœๅฎณ๏ผˆsleep related hypoventilation disorders๏ผ‰ใซใฏไปฅไธ‹ใฎ๏ผ–็—…ๆ…‹ใŒๅซใพใ‚Œใ‚‹ใ€‚โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘กๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital central hypoventilation syndrome: CCHS๏ผ‰ใ€โ‘ข่ฆ–ๅบŠไธ‹้ƒจๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้…็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—ใ€โ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใ€โ‘ค่–ฌๅ‰คใ‚„็‰ฉ่ณชใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€โ‘ฅ่บซไฝ“้šœๅฎณใซใ‚ˆใ‚‹็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—ใ€‚ใ“ใ‚Œใ‚‰ใฎไธญใงใ€โ‘ขใ€โ‘คใ€โ‘ฅใ‚’้™คๅค–ใ—ใ€โ‘ ่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎไธ€้ƒจ๏ผˆ่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใŒCPAPใซใ‚ˆใ‚‹ๆฒป็™‚ใงใ‚‚ๆ”นๅ–„ใ—ใชใ„ๅ ดๅˆใ‚’ใ„ใ†ใ€‚๏ผ‰ใ€โ‘กCCHSใ€ใŠใ‚ˆใณโ‘ฃ็‰น็™บๆ€งไธญๆžขๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใคใ„ใฆใฏใ€่‚บ่ƒžไฝŽๆ›ๆฐ—ใฎไธปใŸใ‚‹็—…ๆ…‹ใจใ—ใฆๅ‘ผๅธ่ชฟ็ฏ€็ณปใฎ็•ฐๅธธใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ‚’่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆalveolar hypoventilation syndrome:AHS๏ผ‰ใจใ™ใ‚‹ใ€‚่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใซใŠใ‘ใ‚‹่ฆš้†’ๆ™‚ใฎ่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่‚ฅๆบ€ใฎๅญ˜ๅœจใจใฏ้–ขไฟ‚ใ—ใชใ„ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏๆง˜ใ€…ใช็—…ๆ…‹ใง่ตทใ“ใ‚Šๅพ—ใ‚‹ใฎใงใ€ไบŒๆฌกๆ€ง่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พคใฎ้‘‘ๅˆฅใ‚’ใ—ใฆใ€AHSใฎ่จบๆ–ญใ‚’ใ™ใ‚‹ใ€‚้›ฃๆฒปๆ€ง็จ€ๅฐ‘ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็™บ็—‡ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ๅ‘ผๅธไธญๆžขๆฉŸ่ƒฝ็•ฐๅธธใซ้–ขไฟ‚ใ—ใŸ็ก็œ ้–ข้€ฃไฝŽๆ›ๆฐ—๏ผˆ่ฆš้†’ใ‹ใ‚‰็ก็œ ใซใชใ‚‹ใจๅ‘ผๅธ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚๏ผ‰ใ€ๅ‘ผๅธ่ชฟ็ฏ€็•ฐๅธธ๏ผˆ็„กๆ„่ญ˜ใงใฏ็”Ÿ็†ๅญฆ็š„ใซๆญฃๅธธใชๅ‘ผๅธ็Šถๆ…‹ใ‚’็ถญๆŒใงใใชใ„ใ€‚๏ผ‰ใŒ็—…ๆ…‹ใฎไธปไฝ“ใงใ‚ใ‚‹ใ€‚AHSใฏใ€ๅ‘ผๅธๅ™จใƒป่ƒธ้ƒญใƒป่‚บๆฉŸ่ƒฝไธŠใซๆ˜Žใ‚‰ใ‹ใช็•ฐๅธธใŒใชใ„ใ€ใพใŸใฏ่ปฝๅบฆใฎ็•ฐๅธธใŒใ‚ใฃใฆใ‚‚AHSใฎไธปใŸใ‚‹ๅŽŸๅ› ใจใฏ่€ƒใˆใ‚‰ใ‚Œใชใ„ใ€‚ใ™ใชใ‚ใกใ€ๅ‘ผๅธ่ชฟ็ฏ€ไธŠใฎ็•ฐๅธธใŒไธปใŸใ‚‹็—…ๆ…‹ใง็ก็œ ๆ™‚ใซ่‚บ่ƒžไฝŽๆ›ๆฐ—๏ผˆ้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใจไฝŽ้…ธ็ด ่ก€็—‡๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่‚บ่ƒžไฝŽๆ›ๆฐ—ใฏ่ฆš้†’ไธญใ‚ˆใ‚Šใ‚‚็ก็œ ไธญใซๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200751" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alveolar hypoventilation syndrome"@en, "่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Alveolar hypoventilation syndrome"@en, "ใฏใ„ใปใ†ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AHS"@en ; - skos:closeMatch mondo:MONDO_0008346, mondo:MONDO_0008758 ; + skos:closeMatch obo:MONDO_0008346 ; skos:prefLabel "่‚บ่ƒžไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja . -:1200752 - :hasNotificationNumber "230" ; - terms:identifier "1200752" ; - terms:source ; + + nando:hasNotificationNumber "230" ; + dcterms:identifier "NANDO:1200752" ; + dcterms:source ; a owl:Class ; - rdfs:label "obesity hypoventilation syndrome"@en, "่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Obesity hypoventilation syndrome"@en, "ใฒใพใ‚“ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "OHS"@en ; - skos:closeMatch mondo:MONDO_0008493, mondo:MONDO_0009763, mondo:MONDO_0010572 ; + skos:closeMatch obo:MONDO_0009763 ; skos:prefLabel "่‚ฅๆบ€ไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja . -:1200753 - :hasNotificationNumber "230" ; - terms:identifier "1200753" ; - terms:source ; + + nando:hasNotificationNumber "230" ; + dcterms:identifier "NANDO:1200753" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital central hypoventilation syndrome"@en, "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Congenital central hypoventilation syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "CCHS"@en ; - skos:closeMatch mondo:MONDO_0008852 ; + skos:closeMatch obo:MONDO_0008852 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja . -:1200754 - :hasNotificationNumber "230" ; - terms:identifier "1200754" ; - terms:source ; + + nando:hasNotificationNumber "230" ; + dcterms:identifier "NANDO:1200754" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic central hypoventilation syndrome"@en, "็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Idiopathic central hypoventilation syndrome"@en, "ใจใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็‰น็™บๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja . -:1200755 - :hasNotificationNumber "231" ; - terms:description "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณ๏ผˆAAT๏ผ‰ๆฌ ไน็—‡๏ผˆฮฑ1-antitrypsin deficiency๏ผšAATD๏ผ‰ใฏใ€AATใฎๆฌ ไนใซใ‚ˆใ‚Šใ€่‹ฅๅนดๆ€งใซๆ…ขๆ€ง้–‰ๅกžๆ€ง่‚บ็–พๆ‚ฃ๏ผˆChronic Obstructive Pulmonary Disease๏ผšCOPD๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฏใ€AATๆฌ ๆ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใŸใŒใ€COPD็™บ็—‡ไปฎ่ชฌใ‹ใ‚‰่€ƒๆ…ฎใ™ใ‚‹ใจใ€่‚บใฎ้˜ฒๅพกๅ› ๅญใงใ‚ใ‚‹AATใฎๆธ›ๅฐ‘ใฏCOPD็™บ็—‡็ด ๅ› ใซใชใ‚Šใ†ใ‚‹ใŸใ‚ใ€AATๆฌ ไน็—‡ใจใ™ใ‚‹ใ€‚AATDใฏใ€่ก€ๆธ…AATๆฟƒๅบฆ๏ผœ90mg/dL๏ผˆใƒใƒ•ใ‚งใƒญใƒกใƒˆใƒชใƒผๆณ•๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€่ปฝ็—‡๏ผˆ50mg/dLโ‰ฆ่ก€ๆธ…AAT๏ผœ90mg/dL๏ผ‰ใ€้‡็—‡๏ผˆ่ก€ๆธ…AAT๏ผœ50mg/dL๏ผ‰ใ€ใฎ๏ผ’ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใชใŠใ€AATD้กž็ธ่‚บ็–พๆ‚ฃใจใ—ใฆใ€่ก€ๆธ…AATใŒๆญฃๅธธ็ฏ„ๅ›ฒใงใ‚‚ใ€AATDใจ้กžไผผใ—ใŸ็—…ๆ…‹๏ผˆ55ๆญณๆœชๆบ€ใง็™บ็—‡ใ™ใ‚‹้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณ๏ผ‰ใ‚’็คบใ™็—‡ไพ‹ใŒใ‚ใ‚Šใ€AATไปฅๅค–ใฎๆœช็Ÿฅใฎ็™บ็—‡็ด ๅ› ใซใ‚ˆใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏไปŠๅพŒใฎ็ ”็ฉถ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚AATD้กž็ธ่‚บ็–พๆ‚ฃใ‚’ๅซใ‚€่‹ฅๅนด็™บ็—‡้‡็—‡COPDใฏใ€้‡ๅบฆใฎๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใ‚ใ‚Šใ€่–ฌ็‰ฉๆฒป็™‚ใซใ‚‚ไฟ‚ใ‚‰ใš45๏ผ…ใฎๆ‚ฃ่€…ใงๅœจๅฎ…้…ธ็ด ็™‚ๆณ•ใ‚’่ฆใ—ใ€ๅข—ๆ‚ชใฎ้ ปๅบฆใŒๅคšใ„ใจใ„ใ†้‡็—‡ใƒป้›ฃๆฒปๆ€งใฎ็—…ๅƒใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€AATDใฏ้€šๅธธใฎCOPDใจใฏ็•ฐใชใ‚‹็–พ็—…ใงใ‚ใ‚Šใ€ๅ–ซ็…™ใฎๅฝฑ้Ÿฟใ‚’ใใฎ็™บ็—‡่ฆๅ› ใจใ—ใฆใฏใ€ใปใผ่€ƒๆ…ฎใ‹ใ‚‰ๅค–ใ›ใ‚‹็–พ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200755" ; - terms:source ; - a owl:Class ; - rdfs:label "Alpha-1-antitrypsin deficiency"@en, "ฮฑ1โˆ’ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013282 ; - skos:prefLabel "ฮฑ1โˆ’ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ไน็—‡"@ja . - -:1200756 - :hasNotificationNumber "232" ; - terms:description "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ๏ผˆCarney่ค‡ๅˆ๏ผ‰ใฏใ€็ฒ˜ๆถฒ่…ซใ€็šฎ่†šใฎ่‰ฒ็ด ๆ–‘ใ€ๅ†…ๅˆ†ๆณŒๆฉŸ่ƒฝไบข้€ฒ็Šถๆ…‹ใ‚’ๅˆไฝตใ—ใŸ็—‡ไพ‹ใ‚’ใพใจใ‚ใ€1985ๅนดใซๅไป˜ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ใ“ใฎใ†ใก๏ผ’ใคไปฅไธŠใฎ็—‡ๅ€™ใŒใ‚ใ‚Œใฐ่‡จๅบŠ็š„ใซ่จบๆ–ญใ•ใ‚ŒใฆใใŸใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ€ๅ…ˆ็ซฏ่‚ฅๅคง็—‡ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใ€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ€ๅ†…ๅˆ†ๆณŒ่…บ่…ซ็˜ใชใฉๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใ‚‰ใ‚’ๅฅ‘ๆฉŸใจใ—ใฆ่จบๆ–ญใซ็ตใณใคใใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€ๅคš็™บๆ€ง่…ซ็˜็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200756" ; - terms:source ; - a owl:Class ; - rdfs:label "Carney complex"@en, "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015285 ; + + nando:hasNotificationNumber "231" ; + dcterms:description "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณ๏ผˆAAT๏ผ‰ๆฌ ไน็—‡๏ผˆฮฑ1-antitrypsin deficiency๏ผšAATD๏ผ‰ใฏใ€AATใฎๆฌ ไนใซใ‚ˆใ‚Šใ€่‹ฅๅนดๆ€งใซๆ…ขๆ€ง้–‰ๅกžๆ€ง่‚บ็–พๆ‚ฃ๏ผˆChronic Obstructive Pulmonary Disease๏ผšCOPD๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฏใ€AATๆฌ ๆ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใŸใŒใ€COPD็™บ็—‡ไปฎ่ชฌใ‹ใ‚‰่€ƒๆ…ฎใ™ใ‚‹ใจใ€่‚บใฎ้˜ฒๅพกๅ› ๅญใงใ‚ใ‚‹AATใฎๆธ›ๅฐ‘ใฏCOPD็™บ็—‡็ด ๅ› ใซใชใ‚Šใ†ใ‚‹ใŸใ‚ใ€AATๆฌ ไน็—‡ใจใ™ใ‚‹ใ€‚AATDใฏใ€่ก€ๆธ…AATๆฟƒๅบฆ๏ผœ90mg/dL๏ผˆใƒใƒ•ใ‚งใƒญใƒกใƒˆใƒชใƒผๆณ•๏ผ‰ใจๅฎš็พฉใ•ใ‚Œใ€่ปฝ็—‡๏ผˆ50mg/dLโ‰ฆ่ก€ๆธ…AAT๏ผœ90mg/dL๏ผ‰ใ€้‡็—‡๏ผˆ่ก€ๆธ…AAT๏ผœ50mg/dL๏ผ‰ใ€ใฎ๏ผ’ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใชใŠใ€AATD้กž็ธ่‚บ็–พๆ‚ฃใจใ—ใฆใ€่ก€ๆธ…AATใŒๆญฃๅธธ็ฏ„ๅ›ฒใงใ‚‚ใ€AATDใจ้กžไผผใ—ใŸ็—…ๆ…‹๏ผˆ55ๆญณๆœชๆบ€ใง็™บ็—‡ใ™ใ‚‹้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณ๏ผ‰ใ‚’็คบใ™็—‡ไพ‹ใŒใ‚ใ‚Šใ€AATไปฅๅค–ใฎๆœช็Ÿฅใฎ็™บ็—‡็ด ๅ› ใซใ‚ˆใ‚‹็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏไปŠๅพŒใฎ็ ”็ฉถ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚AATD้กž็ธ่‚บ็–พๆ‚ฃใ‚’ๅซใ‚€่‹ฅๅนด็™บ็—‡้‡็—‡COPDใฏใ€้‡ๅบฆใฎๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใ‚ใ‚Šใ€่–ฌ็‰ฉๆฒป็™‚ใซใ‚‚ไฟ‚ใ‚‰ใš45๏ผ…ใฎๆ‚ฃ่€…ใงๅœจๅฎ…้…ธ็ด ็™‚ๆณ•ใ‚’่ฆใ—ใ€ๅข—ๆ‚ชใฎ้ ปๅบฆใŒๅคšใ„ใจใ„ใ†้‡็—‡ใƒป้›ฃๆฒปๆ€งใฎ็—…ๅƒใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€AATDใฏ้€šๅธธใฎCOPDใจใฏ็•ฐใชใ‚‹็–พ็—…ใงใ‚ใ‚Šใ€ๅ–ซ็…™ใฎๅฝฑ้Ÿฟใ‚’ใใฎ็™บ็—‡่ฆๅ› ใจใ—ใฆใฏใ€ใปใผ่€ƒๆ…ฎใ‹ใ‚‰ๅค–ใ›ใ‚‹็–พ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200755" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alpha-1-antitrypsin deficiency"@en, "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja, "ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "AATD"@en, "ฮฑ-1-antitrypsin deficiency"@en ; + skos:closeMatch obo:MONDO_0013282 ; + skos:prefLabel "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "232" ; + dcterms:description "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ๏ผˆCarney่ค‡ๅˆ๏ผ‰ใฏใ€็ฒ˜ๆถฒ่…ซใ€็šฎ่†šใฎ่‰ฒ็ด ๆ–‘ใ€ๅ†…ๅˆ†ๆณŒๆฉŸ่ƒฝไบข้€ฒ็Šถๆ…‹ใ‚’ๅˆไฝตใ—ใŸ็—‡ไพ‹ใ‚’ใพใจใ‚ใ€1985ๅนดใซๅไป˜ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ใ“ใฎใ†ใก๏ผ’ใคไปฅไธŠใฎ็—‡ๅ€™ใŒใ‚ใ‚Œใฐ่‡จๅบŠ็š„ใซ่จบๆ–ญใ•ใ‚ŒใฆใใŸใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ€ๅ…ˆ็ซฏ่‚ฅๅคง็—‡ใ€ๅฅณๆ€งๅŒ–ไนณๆˆฟใ€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ€ๅ†…ๅˆ†ๆณŒ่…บ่…ซ็˜ใชใฉๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใฎๅˆไฝตใŒๅคšใใ€ใใ‚Œใ‚‰ใ‚’ๅฅ‘ๆฉŸใจใ—ใฆ่จบๆ–ญใซ็ตใณใคใใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใจใ•ใ‚Œใ‚‹ใ€ๅคš็™บๆ€ง่…ซ็˜็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200756" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carney complex"@en, "ใ‹ใƒผใซใƒผใตใใ”ใ†"@ja-Hira, "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Carney่ค‡ๅˆ"@ja ; + skos:closeMatch obo:MONDO_0015285 ; skos:prefLabel "ใ‚ซใƒผใƒ‹ใƒผ่ค‡ๅˆ"@ja . -:1200757 - :hasNotificationNumber "233" ; - terms:description "่‹ฅๅนด็™บ็—‡ใฎ็ณ–ๅฐฟ็—…ใŒๅˆ็™บ็—‡็Šถใจใชใ‚Šใ€ๆฌกใ„ใง่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ‚ˆใ‚Š่ฆ–ๅŠ›้šœๅฎณใ‚’ๆฅใ™ใ€‚ใ“ใฎ๏ผ’ใคใฎ็‰นๅพด็š„ใช็—‡ๅ€™ใฎๅˆไฝตใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚ใ€€็ณ–ๅฐฟ็—…ใจ่ฆ–็ฅž็ตŒ่Ž็ธฎใซๅŠ ใˆใฆๅ†…ๅˆ†ๆณŒไปฃ่ฌ็ณปใ€็ฒพ็ฅž็ฅž็ตŒ็ณปใ‚’ๅบƒ็ฏ„ใซ้šœๅฎณใ—ใ€ๅฐฟๅดฉ็—‡ใ€้›ฃ่ดใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅคšๅฝฉใช็ฅž็ตŒใƒป็ฒพ็ฅž็—‡็Šถใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธป่ฆๅพดๅ€™ใ‚’่‹ฑ่ชžใง็พใ—ใŸใจใใฎ้ ญๆ–‡ๅญ—ใ‚’ๅ–ใฃใฆDIDMOAD็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200757" ; - terms:source ; - a owl:Class ; - rdfs:label "Wolfram syndrome"@en, "ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018105 ; + + nando:hasNotificationNumber "233" ; + dcterms:description "่‹ฅๅนด็™บ็—‡ใฎ็ณ–ๅฐฟ็—…ใŒๅˆ็™บ็—‡็Šถใจใชใ‚Šใ€ๆฌกใ„ใง่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ‚ˆใ‚Š่ฆ–ๅŠ›้šœๅฎณใ‚’ๆฅใ™ใ€‚ใ“ใฎ๏ผ’ใคใฎ็‰นๅพด็š„ใช็—‡ๅ€™ใฎๅˆไฝตใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚ใ€€็ณ–ๅฐฟ็—…ใจ่ฆ–็ฅž็ตŒ่Ž็ธฎใซๅŠ ใˆใฆๅ†…ๅˆ†ๆณŒไปฃ่ฌ็ณปใ€็ฒพ็ฅž็ฅž็ตŒ็ณปใ‚’ๅบƒ็ฏ„ใซ้šœๅฎณใ—ใ€ๅฐฟๅดฉ็—‡ใ€้›ฃ่ดใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅคšๅฝฉใช็ฅž็ตŒใƒป็ฒพ็ฅž็—‡็Šถใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธป่ฆๅพดๅ€™ใ‚’่‹ฑ่ชžใง็พใ—ใŸใจใใฎ้ ญๆ–‡ๅญ—ใ‚’ๅ–ใฃใฆDIDMOAD็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200757" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Wolfram syndrome"@en, "ใ†ใ‰ใ‚‹ใตใ‚‰ใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Wolfram็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018105 ; skos:prefLabel "ใ‚ฆใ‚ฉใƒซใƒ•ใƒฉใƒ ็—‡ๅ€™็พค"@ja . -:1200758 - :hasNotificationNumber "234" ; - terms:description "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏ็ดฐ่ƒžๅ†…ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใƒปใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใใ‚Œใ‚‰ใฎใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชPEXใ‚ฟใƒณใƒ‘ใ‚ฏใฎ้บไผๅญ็•ฐๅธธ็—‡๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ๏ผ’ใคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Šๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ไปฃ่ฌ็ณปใŒ้šœๅฎณใ•ใ‚Œใ€ไธญๆžข็ฅž็ตŒ็ณปใ‚’ไธญๅฟƒใซๅฏพ่ฑกใจใชใ‚‹่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ—ใฆๅคšๅฒใซใ‚ใŸใ‚‹่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๆœ€ใ‚‚้‡็ฏคใ‹ใคใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎๆฅตๅž‹ใงใ‚ใ‚‹ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใชใฉ15ใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ“ใงใฏๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’้™คใ„ใŸใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200758" ; + + nando:hasNotificationNumber "234" ; + dcterms:description "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏ็ดฐ่ƒžๅ†…ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใƒปใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใใ‚Œใ‚‰ใฎใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชPEXใ‚ฟใƒณใƒ‘ใ‚ฏใฎ้บไผๅญ็•ฐๅธธ็—‡๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ๏ผ’ใคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Šๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ไปฃ่ฌ็ณปใŒ้šœๅฎณใ•ใ‚Œใ€ไธญๆžข็ฅž็ตŒ็ณปใ‚’ไธญๅฟƒใซๅฏพ่ฑกใจใชใ‚‹่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ—ใฆๅคšๅฒใซใ‚ใŸใ‚‹่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใ‚Œใพใงใซๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๆœ€ใ‚‚้‡็ฏคใ‹ใคใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎๆฅตๅž‹ใงใ‚ใ‚‹ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พคใชใฉ15ใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ“ใงใฏๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’้™คใ„ใŸใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200758" ; a owl:Class ; - rdfs:label "Peroxisomal Disorder"@en, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Peroxisomal disease "@en ; - skos:closeMatch mondo:MONDO_0019053 ; + rdfs:label "Peroxisomal disorder"@en, "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ†"@ja-Hira, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Peroxisomal disease"@en ; + skos:closeMatch obo:MONDO_0019053 ; skos:prefLabel "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja . -:1200759 - :hasNotificationNumber "234" ; - terms:identifier "1200759" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200759" ; + dcterms:source ; a owl:Class ; - rdfs:label "Peroxisome biogenesis disorders"@en, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019234, mondo:MONDO_0019609 ; + rdfs:label "Peroxisome biogenesis disorders"@en, "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PBD"@en, "PEX้บไผๅญ็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0019234 ; skos:prefLabel "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡"@ja . -:1200760 - :hasNotificationNumber "234" ; - terms:identifier "1200760" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200760" ; + dcterms:source ; a owl:Class ; - rdfs:label "Zellweger syndrome"@en, "ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019609 ; + rdfs:label "Zellweger syndrome"@en, "ใคใ‡ใ‚‹ในใƒผใŒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Zellweger็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0019609 ; skos:prefLabel "ใƒ„ใ‚งใƒซใƒ™ใƒผใ‚ฌใƒผ็—‡ๅ€™็พค"@ja . -:1200761 - :hasNotificationNumber "234" ; - terms:identifier "1200761" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200761" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neonatal adrenoleukodystrophy"@en, "ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018598 ; + rdfs:label "Neonatal adrenoleukodystrophy"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018598 ; skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200762 - :hasNotificationNumber "234" ; - terms:identifier "1200762" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200762" ; + dcterms:source ; a owl:Class ; - rdfs:label "Infantile Refsum disease"@en, "ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009959, mondo:MONDO_0019174 ; + rdfs:label "Infantile Refsum disease"@en, "ใซใ‚…ใ†ใ˜ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ†"@ja-Hira, "ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019174 ; skos:prefLabel "ไนณๅ…ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja . -:1200763 - :hasNotificationNumber "234" ; - terms:identifier "1200763" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200763" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rhizomelic chondrodysplasia punctata type 1"@en, "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Rhizomelic chondrodysplasia punctata type 1"@en, "ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "RCDP type 1"@en ; - skos:closeMatch mondo:MONDO_0008972 ; + skos:closeMatch obo:MONDO_0008972 ; skos:prefLabel "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡1ๅž‹"@ja . -:1200764 - :hasNotificationNumber "234" ; - terms:identifier "1200764" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200764" ; + dcterms:source ; a owl:Class ; - rdfs:label "Peroxisomal beta-oxidation enzyme deficiency"@en, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Peroxisomal beta-oxidation enzyme deficiency"@en, "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ในใƒผใŸใ•ใ‚“ใ‹ใ‘ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Peroxisomal ฮฒ-oxidation enzyme deficiency"@en ; + skos:closeMatch obo:MONDO_0019233 ; skos:prefLabel "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ฮฒ้…ธๅŒ–็ณป้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200765 - :hasNotificationNumber "234" ; - terms:identifier "1200765" ; - terms:source ; - a owl:Class ; - rdfs:label "Peroxisomal acyl-CoA oxidase deficiency"@en, "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใ‚ฟใ‚™ใƒผใ‚ปใ‚™ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "AOXๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009919 ; - skos:prefLabel "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใ‚ฟใ‚™ใƒผใ‚ปใ‚™ๆฌ ๆ็—‡"@ja . - -:1200766 - :hasNotificationNumber "234" ; - terms:identifier "1200766" ; - terms:source ; - a owl:Class ; - rdfs:label "D-bifunctional protein deficiency"@en, "D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200765" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Peroxisomal acyl-CoA oxidase deficiency"@en, "ใ‚ใ—ใ‚‹ ใ“ใˆใƒผใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ "@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "AOXๆฌ ๆ็—‡"@ja, "Peroxisomal acyl-coenzyme A oxidase deficiency"@en ; + skos:closeMatch obo:MONDO_0009919 ; + skos:prefLabel "ใ‚ขใ‚ทใƒซ CoA ใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ "@ja . + + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200766" ; + dcterms:source ; + a owl:Class ; + rdfs:label "D-bifunctional protein deficiency"@en, "D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja, "ใงใƒใƒผใซใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "DBPๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009855 ; + skos:closeMatch obo:MONDO_0009855 ; skos:prefLabel "D-ไบŒ้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200767 - :hasNotificationNumber "234" ; - terms:identifier "1200767" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200767" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sterol carrier protein 2 deficiency"@en, "ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Sterol carrier protein 2 deficiency"@en, "ใ™ใฆใ‚ใƒผใ‚‹ใใ‚ƒใ‚Šใ‚ใทใ‚ใฆใ„ใ‚“ใˆใฃใใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "SCPxๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0013391 ; + skos:closeMatch obo:MONDO_0013391 ; skos:prefLabel "ใ‚นใƒ†ใƒญใƒผใƒซใ‚ญใƒฃใƒชใ‚ขใƒ—ใƒญใƒ†ใ‚คใƒณXๆฌ ๆ็—‡"@ja . -:1200768 - :hasNotificationNumber "234" ; - terms:identifier "1200768" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200768" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alpha-methylacyl-CoA racemase deficiency"@en, "๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "AMACRๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0013681 ; + rdfs:label "2ใ‚ใกใ‚‹ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ‚‰ใ›ใพใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "Alpha-methylacyl-CoA racemase deficiency"@en, "๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "2-Methylacyl-CoA racemaseๆฌ ๆ็—‡"@ja, "AMACRๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0013681 ; skos:prefLabel "๏ผ’-ใƒกใƒใƒซใ‚ขใ‚ทใƒซCoAใƒฉใ‚ปใƒžใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200769 - :hasNotificationNumber "234" ; - terms:identifier "1200769" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200769" ; + dcterms:source ; a owl:Class ; - rdfs:label "Refsum disease"@en, "ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009958 ; + rdfs:label "Refsum disease"@en, "ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ†"@ja-Hira, "ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Refsum็—…"@ja ; + skos:closeMatch obo:MONDO_0009958 ; skos:prefLabel "ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja . -:1200770 - :hasNotificationNumber "234" ; - terms:identifier "1200770" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200770" ; + dcterms:source ; a owl:Class ; - rdfs:label "Plasmalogen biosynthesis enzyme deficiency"@en, "ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Plasmalogen biosynthesis enzyme deficiency"@en, "ใทใ‚‰ใ™ใพใ‚ใƒผใ’ใ‚“ใ”ใ†ใ›ใ„ใ‘ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017986 ; skos:prefLabel "ใƒ—ใƒฉใ‚นใƒžใƒญใƒผใ‚ฒใƒณๅˆๆˆ็ณป้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200771 - :hasNotificationNumber "234" ; - terms:identifier "1200771" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200771" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rhizomelic chondrodysplasia punctata type2"@en, "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "RCDP type2"@en ; + rdfs:label "Rhizomelic chondrodysplasia punctata type 2"@en, "ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "RCDP type 2"@en ; + skos:closeMatch obo:MONDO_0009112 ; skos:prefLabel "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹"@ja . -:1200772 - :hasNotificationNumber "234" ; - terms:identifier "1200772" ; - terms:source ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200772" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rhizomelic chondrodysplasia punctata type3"@en, "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "RCDP type3"@en ; + rdfs:label "Rhizomelic chondrodysplasia punctata type 3"@en, "ใ“ใ‚“ใ˜ใ‚‡ใ†ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "RCDP type 3"@en ; + skos:closeMatch obo:MONDO_0010823 ; skos:prefLabel "ๆ นๆ€ง็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ“ๅž‹"@ja . -:1200773 - :hasNotificationNumber "234" ; - terms:identifier "1200773" ; - terms:source ; - a owl:Class ; - rdfs:label "Primary hyperoxaluria type 1"@en, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009823 ; - skos:prefLabel "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹"@ja . - -:1200774 - :hasNotificationNumber "234" ; - terms:identifier "1200774" ; - terms:source ; - a owl:Class ; - rdfs:label "Acatalasemia"@en, "ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Acatalasia"@en, "็„กใ‚ซใ‚ฟใƒฉใƒผใ‚ผ่ก€็—‡"@ja ; - skos:closeMatch mondo:MONDO_0013571 ; + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200773" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary hyperoxaluria type 1"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ—ใ‚…ใ†ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡Iๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PH1"@en ; + skos:closeMatch obo:MONDO_0009823 ; + skos:prefLabel "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡Iๅž‹"@ja . + + + nando:hasNotificationNumber "234" ; + dcterms:identifier "NANDO:1200774" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acatalasemia"@en, "ใ‚ใ‹ใŸใ‚‰ใ›ใฟใ‚"@ja-Hira, "ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Acatalasaemia"@en, "Acatalasia"@en, "็„กใ‚ซใ‚ฟใƒฉใƒผใ‚ผ่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0013571 ; skos:prefLabel "ใ‚ขใ‚ซใ‚ฟใƒฉใ‚ปใƒŸใ‚ข"@ja . -:1200775 - :hasNotificationNumber "235" ; - terms:description "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆparathyroid hormone๏ผšPTH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹PTHไฝœ็”จ้šœๅฎณใ‹ใ‚‰ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚„้ซ˜ใƒชใƒณ่ก€็—‡ใŒๆƒน่ตทใ•ใ‚Œใ€ไธปใซไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅ•้กŒใจใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200775" ; - terms:source ; + + nando:hasNotificationNumber "235" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆparathyroid hormone๏ผšPTH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹PTHไฝœ็”จ้šœๅฎณใ‹ใ‚‰ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚„้ซ˜ใƒชใƒณ่ก€็—‡ใŒๆƒน่ตทใ•ใ‚Œใ€ไธปใซไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅ•้กŒใจใชใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200775" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypoparathyroidism"@en, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Hypoparathyroidism"@en, "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Accessory thyroid hypergasia disease"@en ; - skos:closeMatch mondo:MONDO_0001220, mondo:MONDO_0015895 ; + skos:closeMatch obo:MONDO_0001220, obo:MONDO_0015895 ; skos:prefLabel "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:1200776 - :hasNotificationNumber "236" ; - terms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200776" ; - terms:source ; + + nando:hasNotificationNumber "236" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200776" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pseudohypoparathyroidism"@en, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019992 ; + rdfs:label "Pseudohypoparathyroidism"@en, "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019992 ; skos:prefLabel "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:1200777 - :hasNotificationNumber "237" ; - terms:description "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆACTH๏ผ‰ไธๅฟœ็—‡ใฏใ€ๅฎถๆ—ๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…ใ‹ใ‚‰็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใงใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅŠใณๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ™ใ‚‹ใŒใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ACTHไธๅฟœ็—‡ใฏใ€็„กๆถ™็—‡๏ผˆalacrima๏ผ‰ใ€ใ‚ขใ‚ซใƒฉใ‚ทใ‚ข๏ผˆachalasia๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€Triple A็—‡ๅ€™็พค๏ผˆAllgrove็—‡ๅ€™็พค๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200777" ; - terms:source ; + + nando:hasNotificationNumber "237" ; + dcterms:description "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆACTH๏ผ‰ไธๅฟœ็—‡ใฏใ€ๅฎถๆ—ๆ€งใ‚ขใ‚ธใ‚ฝใƒณ็—…ใ‹ใ‚‰็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใงใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€งใฎ่ฆๅ› ใซใ‚ˆใ‚Šใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ๅŠใณๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ™ใ‚‹ใŒใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ACTHไธๅฟœ็—‡ใฏใ€็„กๆถ™็—‡๏ผˆalacrima๏ผ‰ใ€ใ‚ขใ‚ซใƒฉใ‚ทใ‚ข๏ผˆachalasia๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€Triple A็—‡ๅ€™็พค๏ผˆAllgrove็—‡ๅ€™็พค๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200777" ; + dcterms:source ; a owl:Class ; - rdfs:label "Adrenocorticotropic Hormone Insensitivity"@en, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ACTH unresponsiveness"@en, "Adrenocorticotropic hormone unresponsiveness"@en ; + rdfs:label "ACTH unresponsiveness"@en, "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ACTHไธๅฟœ็—‡"@ja, "Adrenocorticotropic hormone insensitivity"@en, "Adrenocorticotropic hormone unresponsiveness"@en, "Adrenocorticotropin unresponsiveness"@en ; skos:prefLabel "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja . -:1200778 - :hasNotificationNumber "238" ; - terms:description "ๅˆฅๅใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจๅ‘ผใฐใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆˆ้•ท่ปŸ้ชจๅธฏ้–‰้Ž–ไปฅๅ‰ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ใใ‚‹็—…ใจๅ‘ผใ‚“ใงใ„ใ‚‹ใ€‚ใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใฏใ€้ชจ็Ÿณ็ฐๅŒ–้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธ‹่จ˜ใฎ็—‡็Šถใซใ‚ˆใ‚Šใ€็ฝนๆ‚ฃๆ‚ฃ่€…ใฎQOLใ‚’้‡ๅบฆใซ้šœๅฎณใ—ใ†ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณDๆฌ ไนๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจใฏ็•ฐใชใ‚Šใ€ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซใ‚ˆใ‚ŠๅฎŒๆฒปใ—ใชใ„ใ€‚"@ja ; - terms:identifier "1200778" ; + + nando:hasNotificationNumber "238" ; + dcterms:description "ๅˆฅๅใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจๅ‘ผใฐใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€ๆˆ้•ท่ปŸ้ชจๅธฏ้–‰้Ž–ไปฅๅ‰ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ใใ‚‹็—…ใจๅ‘ผใ‚“ใงใ„ใ‚‹ใ€‚ใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใฏใ€้ชจ็Ÿณ็ฐๅŒ–้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธ‹่จ˜ใฎ็—‡็Šถใซใ‚ˆใ‚Šใ€็ฝนๆ‚ฃๆ‚ฃ่€…ใฎQOLใ‚’้‡ๅบฆใซ้šœๅฎณใ—ใ†ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณDๆฌ ไนๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡ใจใฏ็•ฐใชใ‚Šใ€ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซใ‚ˆใ‚ŠๅฎŒๆฒปใ—ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200778" ; a owl:Class ; - rdfs:label "Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia"@en, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Vitamin D Resistant Rickets / Osteomalacia "@en ; + rdfs:label "Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†/ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Vitamin D Resistant Rickets / Osteomalacia"@en, "ไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใƒป้ชจ่ปŸๅŒ–็—‡"@ja ; + skos:closeMatch obo:MONDO_0024300 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡"@ja . -:1200779 - :hasNotificationNumber "238" ; - terms:identifier "1200779" ; - terms:source ; + + nando:hasNotificationNumber "238" ; + dcterms:identifier "NANDO:1200779" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vitamin D-resistant rickets"@en, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010931, mondo:MONDO_0024300 ; + rdfs:label "Vitamin D-resistant rickets"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010619, obo:MONDO_0010931 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€งใใ‚‹็—…"@ja . -:1200780 - :hasNotificationNumber "238" ; - terms:identifier "1200780" ; - terms:source ; + + nando:hasNotificationNumber "238" ; + dcterms:identifier "NANDO:1200780" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vitamin D-resistant osteomalacia"@en, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Vitamin D-resistant osteomalacia"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024300 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja . -:1200781 - :hasNotificationNumber "239" ; - terms:description "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ใฏใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใ‚‚ใ„ใ„ใ€้บไผๆ€งใซๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใ‚’็คบใ™ใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD-1ฮฑๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ๏ผˆCYP27B1๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR 1๏ผ‰ใจใ€ใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ๏ผˆVDR๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type 2๏ผšVDDR 2๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200781" ; + + nando:hasNotificationNumber "239" ; + dcterms:description "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡ใฏใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใ‚‚ใ„ใ„ใ€้บไผๆ€งใซๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใ‚’็คบใ™ใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD-1ฮฑๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ๏ผˆCYP27B1๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR 1๏ผ‰ใจใ€ใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ๏ผˆVDR๏ผ‰ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type 2๏ผšVDDR 2๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200781" ; a owl:Class ; - rdfs:label "Vitamin D-dependent rickets"@en, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Vitamin D-dependent Rickets / Osteomalacia "@en, "Vitamin D-dependent osteomalacia"@en ; - skos:closeMatch mondo:MONDO_0005520, mondo:MONDO_0024299 ; + rdfs:label "Vitamin D-dependent rickets / Osteomalacia"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ†/ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Vitamin D-dependent osteomalacia"@en ; + skos:closeMatch obo:MONDO_0024299 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคไพๅญ˜ๆ€งใใ‚‹็—…/้ชจ่ปŸๅŒ–็—‡"@ja . -:1200782 - :hasNotificationNumber "239" ; - terms:identifier "1200782" ; - terms:source ; + + nando:hasNotificationNumber "239" ; + dcterms:identifier "NANDO:1200782" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vitamin D-dependent rickets, type 1"@en, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009924 ; + rdfs:label "Vitamin D-dependent rickets, type 1"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "VDDR 1"@en, "VDDR-I"@en ; + skos:closeMatch obo:MONDO_0009924 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ‘ๅž‹"@ja . -:1200783 - :hasNotificationNumber "239" ; - terms:identifier "1200783" ; - terms:source ; + + nando:hasNotificationNumber "239" ; + dcterms:identifier "NANDO:1200783" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vitamin D-dependent rickets, type 2"@en, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019642 ; + rdfs:label "Vitamin D-dependent rickets, type 2"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "VDDR 2"@en, "VDDR-II"@en ; + skos:closeMatch obo:MONDO_0019642 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡๏ผ’ๅž‹"@ja . -:1200784 - :hasNotificationNumber "240" ; - terms:description "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใซไปฃ่กจใจใ•ใ‚Œใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃ็พคใฏใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚Pheใฏๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใฎใฒใจใคใงใ€ๆญฃๅธธใช่›‹็™ฝๅˆๆˆใ‚’ๅ–ถใ‚€ใŸใ‚ใซใฏไฝ“ๅค–ใ‹ใ‚‰ๆ‘‚ๅ–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ“ใฎ้ฃŸไบ‹ไธญใฎPheใฏ่›‹็™ฝๅˆๆˆใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ไปฅๅค–ใฏใ€ไธปใซPheๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใซใ‚ˆใ‚Šใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ•ใ‚ŒTyrไปฃ่ฌ็ตŒ่ทฏใงๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚Pheๆฐด้…ธๅŒ–ๅๅฟœใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใ€PheใŒ่“„็ฉใ—่ก€ไธญPheๅ€คใŒไธŠๆ˜‡ใ—ใ€ๅฐฟไธญใซใฏPheใฎใปใ‹ใใฎไปฃ่ฌ็”ฃ็‰ฉใฎใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใŒๅคง้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰PKUใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚้Žๅ‰ฐใฎPheใจใจใ‚‚ใซใ“ใ‚Œใ‚‰ใฎไปฃ่ฌ็”ฃ็‰ฉใฏๆญฃๅธธใฎไปฃ่ฌใ‚’้˜ปๅฎณใ—ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใงใฏ่„ณๆง‹็ฏ‰้šœๅฎณใซใ‚ˆใ‚‹็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไปฃ่กจใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ใŒใ€ๆˆไบบใซใŠใ„ใฆใ‚‚ใ•ใพใ–ใพใช็ฒพ็ฅž็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ—ใŸใ‚Šใ€้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใฎๆˆๅ› ใจใชใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200784" ; - terms:source ; + + nando:hasNotificationNumber "240" ; + dcterms:description "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใซไปฃ่กจใจใ•ใ‚Œใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃ็พคใฏใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚Pheใฏๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใฎใฒใจใคใงใ€ๆญฃๅธธใช่›‹็™ฝๅˆๆˆใ‚’ๅ–ถใ‚€ใŸใ‚ใซใฏไฝ“ๅค–ใ‹ใ‚‰ๆ‘‚ๅ–ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ“ใฎ้ฃŸไบ‹ไธญใฎPheใฏ่›‹็™ฝๅˆๆˆใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ไปฅๅค–ใฏใ€ไธปใซPheๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใซใ‚ˆใ‚Šใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ•ใ‚ŒTyrไปฃ่ฌ็ตŒ่ทฏใงๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚Pheๆฐด้…ธๅŒ–ๅๅฟœใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใ€PheใŒ่“„็ฉใ—่ก€ไธญPheๅ€คใŒไธŠๆ˜‡ใ—ใ€ๅฐฟไธญใซใฏPheใฎใปใ‹ใใฎไปฃ่ฌ็”ฃ็‰ฉใฎใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใŒๅคง้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰PKUใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚้Žๅ‰ฐใฎPheใจใจใ‚‚ใซใ“ใ‚Œใ‚‰ใฎไปฃ่ฌ็”ฃ็‰ฉใฏๆญฃๅธธใฎไปฃ่ฌใ‚’้˜ปๅฎณใ—ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใงใฏ่„ณๆง‹็ฏ‰้šœๅฎณใซใ‚ˆใ‚‹็ฒพ็ฅž็™บ้”้…ๆปžใ‚’ไปฃ่กจใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ใŒใ€ๆˆไบบใซใŠใ„ใฆใ‚‚ใ•ใพใ–ใพใช็ฒพ็ฅž็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ—ใŸใ‚Šใ€้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใฎๆˆๅ› ใจใชใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200784" ; + dcterms:source ; a owl:Class ; - rdfs:label "Phenylketonuria"@en, "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009861 ; + rdfs:label "Phenylketonuria"@en, "ใตใ‡ใซใ‚‹ใ‘ใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "HPA"@en, "Hyperphenylalaninemia"@en, "PKU"@en, "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0009861 ; skos:prefLabel "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡"@ja . -:1200785 - :hasNotificationNumber "240" ; - terms:identifier "1200785" ; - terms:source ; - a owl:Class ; - rdfs:label "PAHๆฌ ๆ็—‡"@ja, "Phenylalanine Hydroxylase Deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009861 ; - skos:prefLabel "PAHๆฌ ๆ็—‡"@ja . - -:1200786 - :hasNotificationNumber "240" ; - terms:identifier "1200786" ; - terms:source ; - a owl:Class ; - rdfs:label "BH4ๆฌ ๆ็—‡"@ja, "Tetrahydrobiopterin deficiency"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "240" ; + dcterms:identifier "NANDO:1200785" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Phenylalanine hydroxylase deficiency"@en, "ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "PAH deficiency"@en, "PAHๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009861 ; + skos:prefLabel "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "240" ; + dcterms:identifier "NANDO:1200786" ; + dcterms:source ; + a owl:Class ; + rdfs:label "BH4ๆฌ ๆ็—‡"@ja, "Tetrahydrobiopterin deficiency"@en, "ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "BH4 deficiency"@en, "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0016543 ; skos:prefLabel "BH4ๆฌ ๆ็—‡"@ja . -:1200787 - :hasNotificationNumber "240" ; - terms:identifier "1200787" ; - terms:source ; + + nando:hasNotificationNumber "240" ; + dcterms:identifier "NANDO:1200787" ; + dcterms:source ; a owl:Class ; - rdfs:label "BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡"@ja, "Tetrahydrobiopterin responsive hyperphenylalaninemia"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "BH4- responsive hyperphenylalaninemia"@en, "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡"@ja ; + rdfs:label "BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡"@ja, "Tetrahydrobiopterin-responsive hyperphenylalaninemia"@en, "ใณใƒผใˆใ„ใก4ใฏใ‚“ใฎใ†ใ›ใ„ใ“ใ†ใดใƒผใˆใ„ใกใ„ใƒผใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "BH4-responsive hyperphenylalaninemia"@en, "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡"@ja, "Tetrahydrobiopterin-responsive hyperphenylalaninaemia"@en ; + skos:closeMatch obo:MONDO_0017389 ; skos:prefLabel "BH4ๅๅฟœๆ€ง้ซ˜Phe่ก€็—‡"@ja . -:1200788 - :hasNotificationNumber "241" ; - terms:description "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200788" ; - terms:source ; - a owl:Class ; - rdfs:label "Hypertyrosinemia type I"@en, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Tyrosinemia type 1"@en ; - skos:closeMatch mondo:MONDO_0010161 ; - skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡1ๅž‹"@ja . - -:1200789 - :hasNotificationNumber "242" ; - terms:description "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200789" ; - terms:source ; - a owl:Class ; - rdfs:label "Hypertyrosinemia type II"@en, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Tyrosinemia type 2"@en ; - skos:closeMatch mondo:MONDO_0010160 ; - skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡2ๅž‹"@ja . - -:1200790 - :hasNotificationNumber "243" ; - terms:description "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200790" ; - terms:source ; - a owl:Class ; - rdfs:label "Hypertyrosinemia type III"@en, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "High tyrosinemia"@en, "Tyrosinemia type 3"@en ; - skos:closeMatch mondo:MONDO_0010162 ; - skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡3ๅž‹"@ja . - -:1200791 - :hasNotificationNumber "244" ; - terms:description "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡๏ผˆMSUD๏ผ‰ใฏๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธ๏ผˆBCAA๏ผšใƒใƒชใƒณใ€ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณ๏ผ‰็”ฑๆฅใฎๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ๏ผˆBCKA๏ผ‰ใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎ้šœๅฎณใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใฎๆ€ฅๆ€งๆœŸใงใฏๅ…ƒๆฐ—ใŒใชใ„ใ€ๅ“บไนณๅŠ›ไฝŽไธ‹ใ€ไธๆฉŸๅซŒใ€ๅ˜”ๅใชใฉใง็™บ็—‡ใ™ใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“ใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅพŒๅผ“ๅๅผตใชใฉใŒๅ‡บ็พใ—ใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจๆญปไบกใ™ใ‚‹ใ‹้‡็ฏคใช็ฅž็ตŒๅพŒ้บ็—‡ใ‚’ใฎใ“ใ™ใ€‚ๆ…ขๆ€ง็—‡็Šถใจใ—ใฆใฏ็™บ้”้šœๅฎณใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅคฑ่ชฟ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉๅ…จใฆใฎๆ‚ฃ่€…ใฏใ“ใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใซใ‚ˆใฃใฆ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใ‚ใŒๅ›ฝใงใฎ้ ปๅบฆใฏๅ‡บ็”Ÿ็ด„50ไธ‡ไบบใซ๏ผ‘ไบบใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200791" ; - terms:source ; - a owl:Class ; - rdfs:label "Maple syrup urine disease"@en, "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009563 ; + + nando:hasNotificationNumber "241" ; + dcterms:description "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200788" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tyrosinemia type 1"@en, "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ‘ใŒใŸ"@ja-Hira, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Tyrosinaemia type 1"@en ; + skos:closeMatch obo:MONDO_0010161 ; + skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "242" ; + dcterms:description "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200789" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tyrosinemia type 2"@en, "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ’ใŒใŸ"@ja-Hira, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Tyrosinaemia type 2"@en ; + skos:closeMatch obo:MONDO_0010160 ; + skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹"@ja . + + + nando:hasNotificationNumber "243" ; + dcterms:description "ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธๅˆ†่งฃ้…ต็ด ใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใซใฏ็จฎใ€…ใฎๅŽŸๅ› ใŒใ‚ใ‚Šใ€๏ผ‘ๅž‹ใ€๏ผ’ๅž‹ใ€๏ผ“ๅž‹ใฎ๏ผ“ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผ๏ผˆFAH๏ผ‰ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ใใฎไป–ใฎไปฃ่ฌ้šœๅฎณใ€ๅ‡ๅ›บๅ› ๅญใฎไฝŽไธ‹ใ€่‹ฅๅนดๆ€ง่‚่‡“็™Œใ€่‚ไธๅ…จใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใซใŠใ„ใฆใ‚‚็ดฐ่ƒž้šœๅฎณใŒๅ‡บ็พใ—ใ€ใ‚ขใƒŸใƒŽ้…ธๅฐฟใ€็ณ–ๅฐฟใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พคใŒ็™บ็—‡ใ™ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆTAT๏ผ‰ใฎๆฌ ๆ็—‡ใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ๏ผˆHPD๏ผ‰ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚ไธ–็•ŒใซใŠใ‘ใ‚‹้ ปๅบฆใฏ๏ผ‘ๅž‹ใง10ไธ‡๏ฝž12ไธ‡ไบบใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹๏ผ‘ๅž‹ใฎ้ ปๅบฆใฏใ•ใ‚‰ใซไฝŽใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ’ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใง็ขบๅฎš่จบๆ–ญใ•ใ‚ŒใŸ็—‡ไพ‹ใจใ—ใฆ๏ผ”ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€๏ผ“ๅž‹ใ‚‚ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€่จบๆ–ญใ•ใ‚Œใฆใ„ใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200790" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tyrosinemia type 3"@en, "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†๏ผ“ใŒใŸ"@ja-Hira, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Tyrosinaemia type 3"@en ; + skos:closeMatch obo:MONDO_0010162 ; + skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹"@ja . + + + nando:hasNotificationNumber "244" ; + dcterms:description "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡๏ผˆMSUD๏ผ‰ใฏๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธ๏ผˆBCAA๏ผšใƒใƒชใƒณใ€ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณ๏ผ‰็”ฑๆฅใฎๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ๏ผˆBCKA๏ผ‰ใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ๅˆ†ๆž้Ž–ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎ้šœๅฎณใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใฎๆ€ฅๆ€งๆœŸใงใฏๅ…ƒๆฐ—ใŒใชใ„ใ€ๅ“บไนณๅŠ›ไฝŽไธ‹ใ€ไธๆฉŸๅซŒใ€ๅ˜”ๅใชใฉใง็™บ็—‡ใ™ใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“ใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅพŒๅผ“ๅๅผตใชใฉใŒๅ‡บ็พใ—ใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจๆญปไบกใ™ใ‚‹ใ‹้‡็ฏคใช็ฅž็ตŒๅพŒ้บ็—‡ใ‚’ใฎใ“ใ™ใ€‚ๆ…ขๆ€ง็—‡็Šถใจใ—ใฆใฏ็™บ้”้šœๅฎณใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅคฑ่ชฟ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉๅ…จใฆใฎๆ‚ฃ่€…ใฏใ“ใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใซใ‚ˆใฃใฆ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใ‚ใŒๅ›ฝใงใฎ้ ปๅบฆใฏๅ‡บ็”Ÿ็ด„50ไธ‡ไบบใซ๏ผ‘ไบบใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200791" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Maple syrup urine disease"@en, "ใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "MSUD"@en ; + skos:closeMatch obo:MONDO_0009563 ; skos:prefLabel "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja . -:1200792 - :hasNotificationNumber "245" ; - terms:description "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡๏ผˆPA๏ผ‰ใฏใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200792" ; - terms:source ; - a owl:Class ; - rdfs:label "Propionic acidemia"@en, "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011628 ; + + nando:hasNotificationNumber "245" ; + dcterms:description "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡๏ผˆPA๏ผ‰ใฏใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200792" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Propionic acidemia"@en, "ใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "PA"@en, "Propionic acidaemia"@en ; + skos:closeMatch obo:MONDO_0011628 ; skos:prefLabel "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja . -:1200793 - :hasNotificationNumber "246" ; - terms:description "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ใฏใ€ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA(MM-CoA)ใƒ ใ‚ฟใƒผใ‚ผ(EC5.4.99.2;MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA ใฎไปฃ่ฌใซ้šœๅฎณใ‚’ๆฅใ™ๅŽŸๅ› ใจใ—ใฆใฏใ€(๏ผ‘)MCM ๆฌ ๆ็—‡(MIM#251000)ใจใ€(๏ผ’)ใƒ“ใ‚ฟใƒŸใƒณB12ใฎๆ‘‚ๅ–ใƒป่…ธ็ฎกใงใฎๅธๅŽใƒป่ผธ้€ใ‹ใ‚‰ใ€MCMใฎๆดปๆ€งๅž‹่ฃœ้…ต็ด ใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณ(ใ‚ณใƒใƒžใƒŸใƒ‰)ๅˆๆˆใพใงใฎ่ซธๆฎต้šŽใซใŠใ‘ใ‚‹้šœๅฎณใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธใฏ็›ธ่ฃœๆ€ง่งฃๆžใ‹ใ‚‰cblA๏ฝžcblGใซๅˆ†้กžใ•ใ‚Œใ€cblAใ€cblBใฏใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณๅˆๆˆใ ใ‘ใซ้šœๅฎณใ‚’ๆฅใ—ใฆMCMๆฌ ๆ็—‡ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ใƒกใƒใ‚ชใƒ‹ใƒณๅˆๆˆ้…ต็ด ใซๅฟ…่ฆใชใƒกใƒใƒซใ‚ณใƒใƒฉใƒŸใƒณใฎๅˆๆˆใซๅ…ฑ้€šใ™ใ‚‹็ตŒ่ทฏใฎ้šœๅฎณใงใ‚ใ‚‹cblCใ€cblEใ€cblFใ€cblGใฏใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ„ใ€่‡จๅบŠๅƒใ‚’็•ฐใซใ™ใ‚‹ใ€‚cblDใฏใ€่ฒฌไปปๅˆ†ๅญMMADHCใŒcblCใฎ่ฒฌไปปๅˆ†ๅญMMACHCใซใ‚ˆใ‚‹ไฟฎ้ฃพใ‚’ๅ—ใ‘ใŸใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌไธญ้–“ไฝ“ใฎ็ดฐ่ƒžๅ†…ๅฑ€ๅœจ๏ผˆใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅˆใฏ็ดฐ่ƒž่ณช๏ผ‰ใฎๆŒฏใ‚Šๅˆ†ใ‘ใ‚’ๆ‹…ใฃใฆใŠใ‚Šใ€้บไผๅญๅค‰็•ฐใฎไฝ็ฝฎใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ๅ˜็‹ฌๅž‹๏ผใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ๅ˜็‹ฌๅž‹๏ผๆททๅˆๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ๆœฌ่จบๆ–ญๅŸบๆบ–ใงใฏใ€MCMๆฌ ๆ็—‡ใ€cblAใ€cblBใ€ๅŠใณcblDใฎใ†ใกใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„็—…ๅž‹ใ‚’ๅฏพ่ฑกใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200793" ; - terms:source ; - a owl:Class ; - rdfs:label "Methylmalonic acidemia"@en, "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002012 ; + + nando:hasNotificationNumber "246" ; + dcterms:description "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ใฏใ€ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA(MM-CoA)ใƒ ใ‚ฟใƒผใ‚ผ(EC5.4.99.2;MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoA ใฎไปฃ่ฌใซ้šœๅฎณใ‚’ๆฅใ™ๅŽŸๅ› ใจใ—ใฆใฏใ€(๏ผ‘)MCM ๆฌ ๆ็—‡(MIM#251000)ใจใ€(๏ผ’)ใƒ“ใ‚ฟใƒŸใƒณB12ใฎๆ‘‚ๅ–ใƒป่…ธ็ฎกใงใฎๅธๅŽใƒป่ผธ้€ใ‹ใ‚‰ใ€MCMใฎๆดปๆ€งๅž‹่ฃœ้…ต็ด ใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณ(ใ‚ณใƒใƒžใƒŸใƒ‰)ๅˆๆˆใพใงใฎ่ซธๆฎต้šŽใซใŠใ‘ใ‚‹้šœๅฎณใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธใฏ็›ธ่ฃœๆ€ง่งฃๆžใ‹ใ‚‰cblA๏ฝžcblGใซๅˆ†้กžใ•ใ‚Œใ€cblAใ€cblBใฏใ‚ขใƒ‡ใƒŽใ‚ทใƒซใ‚ณใƒใƒฉใƒŸใƒณๅˆๆˆใ ใ‘ใซ้šœๅฎณใ‚’ๆฅใ—ใฆMCMๆฌ ๆ็—‡ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ใƒกใƒใ‚ชใƒ‹ใƒณๅˆๆˆ้…ต็ด ใซๅฟ…่ฆใชใƒกใƒใƒซใ‚ณใƒใƒฉใƒŸใƒณใฎๅˆๆˆใซๅ…ฑ้€šใ™ใ‚‹็ตŒ่ทฏใฎ้šœๅฎณใงใ‚ใ‚‹cblCใ€cblEใ€cblFใ€cblGใฏใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ„ใ€่‡จๅบŠๅƒใ‚’็•ฐใซใ™ใ‚‹ใ€‚cblDใฏใ€่ฒฌไปปๅˆ†ๅญMMADHCใŒcblCใฎ่ฒฌไปปๅˆ†ๅญMMACHCใซใ‚ˆใ‚‹ไฟฎ้ฃพใ‚’ๅ—ใ‘ใŸใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌไธญ้–“ไฝ“ใฎ็ดฐ่ƒžๅ†…ๅฑ€ๅœจ๏ผˆใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅˆใฏ็ดฐ่ƒž่ณช๏ผ‰ใฎๆŒฏใ‚Šๅˆ†ใ‘ใ‚’ๆ‹…ใฃใฆใŠใ‚Šใ€้บไผๅญๅค‰็•ฐใฎไฝ็ฝฎใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡ๅ˜็‹ฌๅž‹๏ผใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ๅ˜็‹ฌๅž‹๏ผๆททๅˆๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ๆœฌ่จบๆ–ญๅŸบๆบ–ใงใฏใ€MCMๆฌ ๆ็—‡ใ€cblAใ€cblBใ€ๅŠใณcblDใฎใ†ใกใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„็—…ๅž‹ใ‚’ๅฏพ่ฑกใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200793" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia"@en, "ใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MMA"@en, "Methylmalonic acidaemia"@en ; + skos:closeMatch obo:MONDO_0002012 ; skos:prefLabel "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja . -:1200794 - :hasNotificationNumber "246" ; - terms:identifier "1200794" ; - terms:source ; - a owl:Class ; - rdfs:label "MCMๆฌ ๆ็—‡"@ja, "Methylmalonyl-Coenzyme A mutase deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009612 ; - skos:prefLabel "MCMๆฌ ๆ็—‡"@ja . - -:1200795 - :hasNotificationNumber "246" ; - terms:identifier "1200795" ; - terms:source ; - a owl:Class ; - rdfs:label "Methylmalonic acidemia type cb1A"@en, "cb1A"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "cb1A"@ja . - -:1200796 - :hasNotificationNumber "246" ; - terms:identifier "1200796" ; - terms:source ; - a owl:Class ; - rdfs:label "Methylmalonic acidemia type cb1B"@en, "cb1B"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "cb1B"@ja . - -:1200797 - :hasNotificationNumber "246" ; - terms:identifier "1200797" ; - terms:source ; - a owl:Class ; - rdfs:label "Methylmalonic acidemia type cb1D"@en, "cb1D"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "cb1D"@ja . - -:1200798 - :hasNotificationNumber "247" ; - terms:description "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ใฏใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€Œ่ถณใฎ่’ธใ‚ŒใŸใ‚ˆใ†ใชใ€ใจใ‹ใ€Œๆฑ—่‡ญใ„ใ€ใจๅฝขๅฎนใ•ใ‚Œใ‚‹็‰นๅพด็š„ใชไฝ“่‡ญใ‚’ๅ‘ˆใ—ใ€ๅคšใใฏๆ–ฐ็”Ÿๅ…ๆœŸใซๅ“บไนณไธ่‰ฏใ‚„ๅ˜”ๅใ€ๆ„่ญ˜้šœๅฎณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅผทใ„ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€ไฝŽ่ก€็ณ–ใชใฉใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„50ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ฃŸไบ‹็™‚ๆณ•ใ‚„่–ฌ็‰ฉ็™‚ๆณ•ใง็—‡็Šถใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใงใใ‚ŒใฐไบˆๅพŒ่‰ฏๅฅฝใ ใŒใ€ๆ€ฅๆ€งๆœŸใฎๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200798" ; - terms:source ; - a owl:Class ; - rdfs:label "Isovaleric acidemia"@en, "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009475 ; + + nando:hasNotificationNumber "246" ; + dcterms:identifier "NANDO:1200794" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonyl-Coenzyme A mutase deficiency"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†๏ผˆใˆใ‚€ใ—ใƒผใˆใ‚€ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†๏ผ‰"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ๏ผˆMCMๆฌ ๆ็—‡๏ผ‰"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "methylmalonyl-CoA mutase deficiency"@en ; + skos:closeMatch obo:MONDO_0009612 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ๏ผˆMCMๆฌ ๆ็—‡๏ผ‰"@ja . + + + nando:hasNotificationNumber "246" ; + dcterms:identifier "NANDO:1200795" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia cblA type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia cblA type"@en ; + skos:closeMatch obo:MONDO_0009613 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA"@ja . + + + nando:hasNotificationNumber "246" ; + dcterms:identifier "NANDO:1200796" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia cblB type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใณใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia cblB type"@en ; + skos:closeMatch obo:MONDO_0009614 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB"@ja . + + + nando:hasNotificationNumber "246" ; + dcterms:identifier "NANDO:1200797" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia CblD type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใงใƒใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia CblD type"@en ; + skos:closeMatch obo:MONDO_0010185 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD"@ja . + + + nando:hasNotificationNumber "247" ; + dcterms:description "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡ใฏใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€Œ่ถณใฎ่’ธใ‚ŒใŸใ‚ˆใ†ใชใ€ใจใ‹ใ€Œๆฑ—่‡ญใ„ใ€ใจๅฝขๅฎนใ•ใ‚Œใ‚‹็‰นๅพด็š„ใชไฝ“่‡ญใ‚’ๅ‘ˆใ—ใ€ๅคšใใฏๆ–ฐ็”Ÿๅ…ๆœŸใซๅ“บไนณไธ่‰ฏใ‚„ๅ˜”ๅใ€ๆ„่ญ˜้šœๅฎณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅผทใ„ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€ไฝŽ่ก€็ณ–ใชใฉใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„50ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ฃŸไบ‹็™‚ๆณ•ใ‚„่–ฌ็‰ฉ็™‚ๆณ•ใง็—‡็Šถใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใงใใ‚ŒใฐไบˆๅพŒ่‰ฏๅฅฝใ ใŒใ€ๆ€ฅๆ€งๆœŸใฎๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200798" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Isovaleric acidemia"@en, "ใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Isovaleric acidaemia"@en ; + skos:closeMatch obo:MONDO_0009475 ; skos:prefLabel "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja . -:1200799 - :hasNotificationNumber "248" ; - terms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ๆฌ ๆ็—‡็—‡ๅ€™็พค๏ผˆglucose transporter type 1 deficiency syndrome๏ผšGLUT-1 DS๏ผ‰ใฏใ€่„ณใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚นใŒไธญๆžข็ฅž็ตŒ็ณปใซๅ–ใ‚Š่พผใพใ‚Œใชใ„ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ไปฃ่ฌๆ€ง่„ณ็—‡ใงใ€1991ๅนดใซDe Vivoใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่ก€็ณ–ใฏๆญฃๅธธๅ€คใงใ‚ใ‚‹ใŒ้ซ„ๆถฒ็ณ–ใŒไฝŽๅ€คใจใชใ‚‹ใ“ใจใ‚ˆใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅ†…ใฎไฝŽ่ก€็ณ–็Šถๆ…‹ใ‚’็”Ÿใ˜ใ€ๆง˜ใ€…ใชไธญๆžข็ฅž็ตŒ็ณปๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™ใ€‚ไธญใงใ‚‚้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟ็ญ‰ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚GLUT-1DSใฏใ‚ฑใƒˆใƒณ้ฃŸใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๆœ‰ๅŠนใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ—ฉๆœŸ็™บ่ฆ‹ใƒปๆฒป็™‚ใซใ‚ˆใ‚ŠไบˆๅพŒใ‚’ๆ”นๅ–„ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200799" ; - terms:source ; - a owl:Class ; - rdfs:label "Glucose transporter type 1 deficiency"@en, "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Glut1 deficiency"@en ; - skos:closeMatch mondo:MONDO_0000188, mondo:MONDO_0011724 ; + + nando:hasNotificationNumber "248" ; + dcterms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ๆฌ ๆ็—‡็—‡ๅ€™็พค๏ผˆglucose transporter type 1 deficiency syndrome๏ผšGLUT-1 DS๏ผ‰ใฏใ€่„ณใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚นใŒไธญๆžข็ฅž็ตŒ็ณปใซๅ–ใ‚Š่พผใพใ‚Œใชใ„ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ไปฃ่ฌๆ€ง่„ณ็—‡ใงใ€1991ๅนดใซDe Vivoใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่ก€็ณ–ใฏๆญฃๅธธๅ€คใงใ‚ใ‚‹ใŒ้ซ„ๆถฒ็ณ–ใŒไฝŽๅ€คใจใชใ‚‹ใ“ใจใ‚ˆใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅ†…ใฎไฝŽ่ก€็ณ–็Šถๆ…‹ใ‚’็”Ÿใ˜ใ€ๆง˜ใ€…ใชไธญๆžข็ฅž็ตŒ็ณปๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™ใ€‚ไธญใงใ‚‚้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟ็ญ‰ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚GLUT-1DSใฏใ‚ฑใƒˆใƒณ้ฃŸใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๆœ‰ๅŠนใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ—ฉๆœŸ็™บ่ฆ‹ใƒปๆฒป็™‚ใซใ‚ˆใ‚ŠไบˆๅพŒใ‚’ๆ”นๅ–„ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200799" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glucose transporter 1 deficiency"@en, "ใใ‚‹ใ“ใƒผใ™ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "GLUT-1 DS"@en, "GLUT-1 deficiency"@en, "GLUT1ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0000188, obo:MONDO_0011724 ; skos:prefLabel "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡"@ja . -:1200800 - :hasNotificationNumber "249" ; - terms:description "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ๆฅใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ๏ผ“๏ฝž36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„21ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ—ฆ็™บ็—‡ใ™ใ‚‹ใจใปใจใ‚“ใฉใŒ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใ€ๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200800" ; - terms:source ; - a owl:Class ; - rdfs:label "Glutaric Acidemia type 1"@en, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009281 ; - skos:prefLabel "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹"@ja . + + nando:hasNotificationNumber "249" ; + dcterms:description "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ๆฅใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ๏ผ“๏ฝž36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๆœฌใงใฎ็ฝนๆ‚ฃ้ ปๅบฆใฏ็ด„21ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ—ฆ็™บ็—‡ใ™ใ‚‹ใจใปใจใ‚“ใฉใŒ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใ€ๆฒป็™‚ใฏไธ€็”Ÿ็ถ™็ถšใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200800" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glutaric acidemia type 1"@en, "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "GA1"@en, "Glutaric acidaemia type 1"@en, "Glutaryl-CoA dehydrogenase deficiency"@en ; + skos:closeMatch obo:MONDO_0009281 ; + skos:prefLabel "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "250" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ๏ผˆelectron transfer flavoprotein๏ผšETF๏ผ‰ๅŠใณETF่„ฑๆฐด็ด ้…ต็ด ๏ผˆETF dehydrogenase๏ผšETFDH๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ETFๅŠใณETFDHใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซใŠใ‘ใ‚‹ฮฒ้…ธๅŒ–็ตŒ่ทฏใ‚’ๅซใ‚€่ค‡ๆ•ฐใฎ่„ฑๆฐด็ด ้…ต็ด ๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹้›ปๅญใ‚’้›ปๅญไผ้”็ณปใซไพ›็ตฆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจ่จ˜่ผ‰ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„ๅคšๅšข่ƒžๆ€งๅšข่ƒž่…Žใ‚’ๅˆไฝตใ—ใ€ๆฅตใ‚ใฆ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—ๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็™บ็—‡ใ—็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎใƒ‘ใ‚คใƒญใƒƒใƒˆ็ ”็ฉถใฎ็ตๆžœใซใ‚ˆใ‚‹ใจ็ด„31ไธ‡ไบบใซ๏ผ‘ไบบใฎ็™บ่ฆ‹้ ปๅบฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200801" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glutaric acidemia type 2"@en, "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "GA2"@en, "Glutaric acidaemia type 2"@en, "Multiple acyl-CoA dehydrogenase deficiency"@en ; + skos:closeMatch obo:MONDO_0009282 ; + skos:prefLabel "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹"@ja . -:1200801 - :hasNotificationNumber "250" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ๏ผˆelectron transfer flavoprotein๏ผšETF๏ผ‰ๅŠใณETF่„ฑๆฐด็ด ้…ต็ด ๏ผˆETF dehydrogenase๏ผšETFDH๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ETFๅŠใณETFDHใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซใŠใ‘ใ‚‹ฮฒ้…ธๅŒ–็ตŒ่ทฏใ‚’ๅซใ‚€่ค‡ๆ•ฐใฎ่„ฑๆฐด็ด ้…ต็ด ๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹้›ปๅญใ‚’้›ปๅญไผ้”็ณปใซไพ›็ตฆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจ่จ˜่ผ‰ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„ๅคšๅšข่ƒžๆ€งๅšข่ƒž่…Žใ‚’ๅˆไฝตใ—ใ€ๆฅตใ‚ใฆ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—ๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็™บ็—‡ใ—็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎใƒ‘ใ‚คใƒญใƒƒใƒˆ็ ”็ฉถใฎ็ตๆžœใซใ‚ˆใ‚‹ใจ็ด„31ไธ‡ไบบใซ๏ผ‘ไบบใฎ็™บ่ฆ‹้ ปๅบฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200801" ; - terms:source ; - a owl:Class ; - rdfs:label "Glutaric Acidemia type 2"@en, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009282 ; - skos:prefLabel "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡2ๅž‹"@ja . - -:1200802 - :hasNotificationNumber "251" ; - terms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฏไธปใซ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ๅฐฟ็ด ใ‚’็”ฃ็”Ÿใ™ใ‚‹็ตŒ่ทฏใงใ‚ใ‚Šใ€ใ‚ชใƒซใƒ‹ใƒใƒณใ€ใ‚ทใƒˆใƒซใƒชใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใฎ๏ผ”ใคใฎใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฏๅฐฟ็ด ๅˆๆˆ็ตŒ่ทฏใฎไปฃ่ฌ็ณปใซๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใฎ็—‡็Šถใชใฉใง็™บ็—‡ใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใ‚’ใ•ใ™ใ€‚Nใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200802" ; - terms:source ; - a owl:Class ; - rdfs:label "Urea cycle disorder"@en, "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004739, mondo:MONDO_0019217 ; + + nando:hasNotificationNumber "251" ; + dcterms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฏไธปใซ่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ๅฐฟ็ด ใ‚’็”ฃ็”Ÿใ™ใ‚‹็ตŒ่ทฏใงใ‚ใ‚Šใ€ใ‚ชใƒซใƒ‹ใƒใƒณใ€ใ‚ทใƒˆใƒซใƒชใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใฎ๏ผ”ใคใฎใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฏๅฐฟ็ด ๅˆๆˆ็ตŒ่ทฏใฎไปฃ่ฌ็ณปใซๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใฎ็—‡็Šถใชใฉใง็™บ็—‡ใ™ใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใ‚’ใ•ใ™ใ€‚Nใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ€ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡ใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200802" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Urea cycle disorder"@en, "ใซใ‚‡ใ†ใใ•ใ„ใใ‚‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004739 ; skos:prefLabel "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡"@ja . -:1200803 - :hasNotificationNumber "251" ; - terms:identifier "1200803" ; - terms:source ; + + nando:hasNotificationNumber "251" ; + dcterms:identifier "NANDO:1200803" ; + dcterms:source ; a owl:Class ; - rdfs:label "CPSIๆฌ ๆ็—‡"@ja, "Carbamoyl phosphate synthetase I deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009376 ; + rdfs:label "CPSIๆฌ ๆ็—‡"@ja, "Carbamoyl phosphate synthetase I deficiency"@en, "ใ—ใƒผใดใƒผใˆใ™ใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CPS1 deficiency"@en, "CPS1D"@en, "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009376 ; skos:prefLabel "CPSIๆฌ ๆ็—‡"@ja . -:1200804 - :hasNotificationNumber "251" ; - terms:identifier "1200804" ; - terms:source ; + + nando:hasNotificationNumber "251" ; + dcterms:identifier "NANDO:1200804" ; + dcterms:source ; a owl:Class ; - rdfs:label "OTCๆฌ ๆ็—‡"@ja, "Ornithine transcarbamylase deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010703 ; + rdfs:label "OTCๆฌ ๆ็—‡"@ja, "Ornithine transcarbamylase deficiency"@en, "ใŠใƒผใฆใƒใƒผใ—ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "OTC deficiency"@en, "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010703 ; skos:prefLabel "OTCๆฌ ๆ็—‡"@ja . -:1200805 - :hasNotificationNumber "251" ; - terms:identifier "1200805" ; - terms:source ; + + nando:hasNotificationNumber "251" ; + dcterms:identifier "NANDO:1200805" ; + dcterms:source ; a owl:Class ; - rdfs:label "classic citrullinemia"@en, "ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Citrullinemia type I"@en, "โ… ๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja ; - skos:closeMatch mondo:MONDO_0008988 ; + rdfs:label "Classic citrullinemia"@en, "ใ“ใฆใ‚“ใŒใŸใ—ใจใ‚‹ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Citrullinemia type I"@en, "Classic citrullinaemia"@en, "IIIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja, "Iๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0008988 ; skos:prefLabel "ๅคๅ…ธๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja . -:1200806 - :hasNotificationNumber "251" ; - terms:identifier "1200806" ; - terms:source ; + + nando:hasNotificationNumber "251" ; + dcterms:identifier "NANDO:1200806" ; + dcterms:source ; a owl:Class ; - rdfs:label "Argininosuccinic aciduria"@en, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008815 ; + rdfs:label "Argininosuccinic aciduria"@en, "ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008815 ; skos:prefLabel "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja . -:1200807 - :hasNotificationNumber "251" ; - terms:identifier "1200807" ; - terms:source ; + + nando:hasNotificationNumber "251" ; + dcterms:identifier "NANDO:1200807" ; + dcterms:source ; a owl:Class ; - rdfs:label "Argininemia"@en, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008814 ; + rdfs:label "Argininemia"@en, "ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Argininaemia"@en, "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0008814 ; skos:prefLabel "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja . -:1200808 - :hasNotificationNumber "251" ; - terms:identifier "1200808" ; - terms:source ; + + nando:hasNotificationNumber "251" ; + dcterms:identifier "NANDO:1200808" ; + dcterms:source ; a owl:Class ; - rdfs:label "NAGS deficiency"@en, "NAGSๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009377 ; + rdfs:label "NAGS deficiency"@en, "NAGSๆฌ ๆ็—‡"@ja, "ใˆใฌใˆใƒผใ˜ใƒผใˆใ™ๆฌ ๆ็—‡"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "N-acetyl glutamate synthase deficiency"@en, "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009377 ; skos:prefLabel "NAGSๆฌ ๆ็—‡"@ja . -:1200809 - :hasNotificationNumber "252" ; - terms:description "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€่›‹็™ฝใฎไธ€ใคใงใ‚ใ‚‹y+LAT-1๏ผˆy+L amino acid transporter-1๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใฃใฆใ€ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€็•ฐๅธธ๏ผˆๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใชใฉใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ๅˆ็™บๆ™‚ใฎไธปใช่‡จๅบŠๆ‰€่ฆ‹ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่›‹็™ฝๅซŒใ„ใ€ๆˆ้•ท้šœๅฎณใ€ๅ˜”ๅใ€่‚่…ซๅคงใชใฉใงใ‚ใ‚‹ใŒๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚ๆœฌ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ—ใ€่ฟ‘ๅนดใฎๆœฌ้‚ฆๆ‚ฃ่€…ๆ•ฐใฏ30๏ฝž40ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚LPIใฎ่ฒฌไปป้บไผๅญSLC7A7๏ผˆSolute carrier family7, member7๏ผ‰ใฏy+LAT-1ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200809" ; - terms:source ; + + nando:hasNotificationNumber "252" ; + dcterms:description "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€่›‹็™ฝใฎไธ€ใคใงใ‚ใ‚‹y+LAT-1๏ผˆy+L amino acid transporter-1๏ผ‰ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใฃใฆใ€ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€็•ฐๅธธ๏ผˆๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใชใฉใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚ๅˆ็™บๆ™‚ใฎไธปใช่‡จๅบŠๆ‰€่ฆ‹ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่›‹็™ฝๅซŒใ„ใ€ๆˆ้•ท้šœๅฎณใ€ๅ˜”ๅใ€่‚่…ซๅคงใชใฉใงใ‚ใ‚‹ใŒๅ€‹ไบบๅทฎใŒๅคงใใ„ใ€‚ๆœฌ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ—ใ€่ฟ‘ๅนดใฎๆœฌ้‚ฆๆ‚ฃ่€…ๆ•ฐใฏ30๏ฝž40ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚LPIใฎ่ฒฌไปป้บไผๅญSLC7A7๏ผˆSolute carrier family7, member7๏ผ‰ใฏy+LAT-1ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200809" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lysinuric protein intolerance"@en, "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009109 ; + rdfs:label "Lysinuric protein intolerance"@en, "ใ‚Šใ˜ใ‚“ใซใ‚‡ใ†ใ›ใ„ใŸใ‚“ใฑใใตใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009109 ; skos:prefLabel "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡"@ja . -:1200810 - :hasNotificationNumber "253" ; - terms:description "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹proton-coupled folate transporter๏ผˆPCFT๏ผ‰ใฎๆฉŸ่ƒฝๅ–ชๅคฑใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใ‹ใ‚‰ใฎ่‘‰้…ธๅธๅŽไธๅ…จใจ่„ˆ็ตก่†œใซใŠใ‘ใ‚‹ๅ–ใ‚Š่พผใฟ้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…็–ซไธๅ…จใ€้ทๅปถๆ€งไธ‹็—ขใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็—™ๆ”ฃใชใฉใ‚’ๆฅใ™ใ€‚ๅคง่„ณๅŸบๅบ•ๆ ธใซ็Ÿณ็ฐๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200810" ; - terms:source ; + + nando:hasNotificationNumber "253" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹proton-coupled folate transporter๏ผˆPCFT๏ผ‰ใฎๆฉŸ่ƒฝๅ–ชๅคฑใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่…ธ็ฎกใ‹ใ‚‰ใฎ่‘‰้…ธๅธๅŽไธๅ…จใจ่„ˆ็ตก่†œใซใŠใ‘ใ‚‹ๅ–ใ‚Š่พผใฟ้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…็–ซไธๅ…จใ€้ทๅปถๆ€งไธ‹็—ขใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็—™ๆ”ฃใชใฉใ‚’ๆฅใ™ใ€‚ๅคง่„ณๅŸบๅบ•ๆ ธใซ็Ÿณ็ฐๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200810" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary Folate Malabsorption"@en, "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Hereditary folate malabsorption"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ˆใ†ใ•ใ‚“ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; skos:altLabel "Congenital folate malabsorption"@en ; - skos:closeMatch mondo:MONDO_0009238 ; - skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ"@ja . - -:1200811 - :hasNotificationNumber "254" ; - terms:description "ใƒ˜ใƒ ไปฃ่ฌ็ณปใซ้–ขใ‚ใ‚‹๏ผ˜ใคใฎ้…ต็ด ใฎใ„ใšใ‚Œใ‹ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใƒใƒซใƒ•ใ‚ฃใƒชใƒณไฝ“ใ‚ใ‚‹ใ„ใฏใใฎๅ‰้ง†ไฝ“ใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ™ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…ๆ…‹ใฎๅคง้ƒจๅˆ†ใŒไธๆ˜Žใงใ‚ใ‚Šใ€ๆ นๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ๅ„็—…ๅž‹้–“ใง็—‡็Šถใซใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใŒใ‚ใ‚Šใ€่จบๆ–ญใŒ้žๅธธใซ้›ฃใ—ใใ€็ขบๅฎš่จบๆ–ญใซใฏ้บไผๅญ่จบๆ–ญใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200811" ; - a owl:Class ; - rdfs:label "Porphyria"@en, "ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019142, mondo:MONDO_0037939 ; + skos:closeMatch obo:MONDO_0009238 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡"@ja . + + + nando:hasNotificationNumber "254" ; + dcterms:description "ใƒ˜ใƒ ไปฃ่ฌ็ณปใซ้–ขใ‚ใ‚‹๏ผ˜ใคใฎ้…ต็ด ใฎใ„ใšใ‚Œใ‹ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใƒใƒซใƒ•ใ‚ฃใƒชใƒณไฝ“ใ‚ใ‚‹ใ„ใฏใใฎๅ‰้ง†ไฝ“ใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ™ใคใฎ็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…ๆ…‹ใฎๅคง้ƒจๅˆ†ใŒไธๆ˜Žใงใ‚ใ‚Šใ€ๆ นๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚ๅ„็—…ๅž‹้–“ใง็—‡็Šถใซใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใŒใ‚ใ‚Šใ€่จบๆ–ญใŒ้žๅธธใซ้›ฃใ—ใใ€็ขบๅฎš่จบๆ–ญใซใฏ้บไผๅญ่จบๆ–ญใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200811" ; + a owl:Class ; + rdfs:label "Porphyria"@en, "ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0037939 ; skos:prefLabel "ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200812 - :hasNotificationNumber "254" ; - terms:identifier "1200812" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200812" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute intermittent porphyria"@en, "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008294 ; + rdfs:label "Acute intermittent porphyria"@en, "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ‘ใคใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "AIP"@en, "AIP"@ja ; + skos:closeMatch obo:MONDO_0008294 ; skos:prefLabel "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200813 - :hasNotificationNumber "254" ; - terms:identifier "1200813" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200813" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary coproporphyria"@en, "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007369 ; + rdfs:label "Hereditary coproporphyria"@en, "ใ„ใงใ‚“ใ›ใ„ใ“ใทใ‚ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HCP"@en, "HCP"@ja ; + skos:closeMatch obo:MONDO_0007369 ; skos:prefLabel "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200814 - :hasNotificationNumber "254" ; - terms:identifier "1200814" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200814" ; + dcterms:source ; a owl:Class ; - rdfs:label "Variegate porphyria"@en, "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008297 ; + rdfs:label "Variegate porphyria"@en, "ใ„ใ‘ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "VP"@en, "ๅคšๆง˜ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008297 ; skos:prefLabel "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200815 - :hasNotificationNumber "254" ; - terms:identifier "1200815" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200815" ; + dcterms:source ; a owl:Class ; - rdfs:label "Erythropoietic protoporphyria"@en, "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Erythropoietic protoporphyria"@en, "ใ›ใใŒใใ‚…ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "EPP"@en, "้ชจ้ซ„ๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0001676, mondo:MONDO_0008319, mondo:MONDO_0019263 ; + skos:closeMatch obo:MONDO_0001676, obo:MONDO_0008319, obo:MONDO_0019263 ; skos:prefLabel "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200816 - :hasNotificationNumber "254" ; - terms:identifier "1200816" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200816" ; + dcterms:source ; a owl:Class ; - rdfs:label "Porphyria cutanea tarda"@en, "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008296, mondo:MONDO_0015104 ; + rdfs:label "Porphyria cutanea tarda"@en, "ใฐใ‚“ใฏใคใ›ใ„ใฒใตใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PCT"@en ; + skos:closeMatch obo:MONDO_0015104 ; skos:prefLabel "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200817 - :hasNotificationNumber "254" ; - terms:identifier "1200817" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200817" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital erythropoietic porphyria"@en, "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009902 ; + rdfs:label "Congenital erythropoietic porphyria"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CEP"@en, "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja, "้บไผๆ€ง่ตค่Šฝ็ƒๅข—ๆฎ–ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009902 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200818 - :hasNotificationNumber "254" ; - terms:identifier "1200818" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200818" ; + dcterms:source ; a owl:Class ; - rdfs:label "X-linked dominant protoporphyria"@en, "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010420 ; + rdfs:label "X-linked dominant protoporphyria"@en, "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚†ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CLDP"@en, "XLDPP"@en ; + skos:closeMatch obo:MONDO_0010420 ; skos:prefLabel "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200819 - :hasNotificationNumber "254" ; - terms:identifier "1200819" ; - terms:source ; + + nando:hasNotificationNumber "254" ; + dcterms:identifier "NANDO:1200819" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hepatoerythropoietic porphyria"@en, "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019799 ; + rdfs:label "Hepatoerythropoietic porphyria"@en, "ใ‹ใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HEP"@en ; + skos:closeMatch obo:MONDO_0019799 ; skos:prefLabel "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:1200820 - :hasNotificationNumber "255" ; - terms:description "ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ™ใ‚‹๏ผ”็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใจใ—ใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPCC๏ผ‰ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ใ€ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆACC๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธใงใฏใ“ใ‚Œใ‚‰ใฎๆดปๆ€งใŒๅŒๆ™‚ใซไฝŽไธ‹ใ™ใ‚‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใจใชใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใจใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใฎ๏ผ’็จฎ้กžใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใงใฏไธ€่ˆฌใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸๆ—ฉๆœŸใซๅ˜”ๅใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใง็™บ็—‡ใ—ใ€ใ‚„ใŒใฆ้›ฃๆฒปๆ€งๆนฟ็–นใ€็—™ๆ”ฃใ‚’ๆฅใ™ใ€‚ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไนณๅ…ๆœŸไปฅ้™ใซใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้›ฃๆฒปๆ€งๆนฟ็–นๆง˜็šฎ่†š็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ใจใ‚‚ใซ่–ฌ็†้‡ใฎใƒ“ใ‚ชใƒใƒณ๏ผˆ10๏ฝž100mg/ๆ—ฅ๏ผ‰ใฎ็ตŒๅฃๆŠ•ไธŽใซใ‚ˆใ‚Š่‡จๅบŠ็š„ใ€็”ŸๅŒ–ๅญฆ็š„ใซใ‚‚่ปฝๅฟซใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200820" ; - terms:source ; + + nando:hasNotificationNumber "255" ; + dcterms:description "ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ™ใ‚‹๏ผ”็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผใจใ—ใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPCC๏ผ‰ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ใ€ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆACC๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธใงใฏใ“ใ‚Œใ‚‰ใฎๆดปๆ€งใŒๅŒๆ™‚ใซไฝŽไธ‹ใ™ใ‚‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใจใชใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใƒ“ใ‚ชใƒใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใจใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใฎ๏ผ’็จฎ้กžใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใงใฏไธ€่ˆฌใซๆ–ฐ็”Ÿๅ…ๆœŸ๏ฝžไนณๅ…ๆœŸๆ—ฉๆœŸใซๅ˜”ๅใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใง็™บ็—‡ใ—ใ€ใ‚„ใŒใฆ้›ฃๆฒปๆ€งๆนฟ็–นใ€็—™ๆ”ฃใ‚’ๆฅใ™ใ€‚ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไนณๅ…ๆœŸไปฅ้™ใซใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้›ฃๆฒปๆ€งๆนฟ็–นๆง˜็šฎ่†š็—…ๅค‰ใ‚’ๆฅใ™ใ€‚ใจใ‚‚ใซ่–ฌ็†้‡ใฎใƒ“ใ‚ชใƒใƒณ๏ผˆ10๏ฝž100mg/ๆ—ฅ๏ผ‰ใฎ็ตŒๅฃๆŠ•ไธŽใซใ‚ˆใ‚Š่‡จๅบŠ็š„ใ€็”ŸๅŒ–ๅญฆ็š„ใซใ‚‚่ปฝๅฟซใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200820" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multiple carboxylase deficiency"@en, "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009666, mondo:MONDO_0015454 ; + rdfs:label "Multiple carboxylase deficiency"@en, "ใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015454 ; skos:prefLabel "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200821 - :hasNotificationNumber "255" ; - terms:identifier "1200821" ; - terms:source ; + + nando:hasNotificationNumber "255" ; + dcterms:identifier "NANDO:1200821" ; + dcterms:source ; a owl:Class ; - rdfs:label "Holocarboxylase synthetase deficiency"@en, "ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "HCSๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009666 ; + rdfs:label "Holocarboxylase synthetase deficiency"@en, "ใปใ‚ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HCSๆฌ ๆ็—‡"@ja, "HLCS deficiency"@en ; + skos:closeMatch obo:MONDO_0009666 ; skos:prefLabel "ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200822 - :hasNotificationNumber "255" ; - terms:identifier "1200822" ; - terms:source ; + + nando:hasNotificationNumber "255" ; + dcterms:identifier "NANDO:1200822" ; + dcterms:source ; a owl:Class ; - rdfs:label "Biotinidase deficiency"@en, "ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009665 ; + rdfs:label "Biotinidase deficiency"@en, "ใณใŠใกใซใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009665 ; skos:prefLabel "ใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200823 - :hasNotificationNumber "256" ; - terms:description "็ณ–ๅŽŸ็—…ใฏใ€ๅ…ˆๅคฉ็š„ใชใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ๅคงใใ่‚ๅž‹ใ€็ญ‹ๅž‹ใฎ็—…ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹ใงใฏไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹ใงใฏๆ€ฅๆ€ง็—‡็Šถใจใ—ใฆๆจช็ด‹็ญ‹่ž่งฃ็—‡ใ€ใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใชใฉใ‚’ๆฅใ—ใ€่…Žไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸ่€ๅนดๆœŸใงใฏ็ญ‹ๅŠ›ไฝŽไธ‹๏ผˆ้€ฒ่กŒๆ€ง๏ผ‰ใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…ใฎๅฅฝ็™บ็—…ๅž‹ใฏIIใ€IIIใ€Vใ€VIIๅž‹ใงใ€ๅ…จไฝ“ใฎ90๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎๅธŒใช็ญ‹ๅž‹็—…ๅž‹ใจใ—ใฆ0ๅž‹ใ€IVๅž‹ใ€IXๅž‹ใ€ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆPGK๏ผ‰ๆฌ ๆ็—‡ใ€Xๅž‹ใ€XIๅž‹ใ€XIIๅž‹ใ€XIIIๅž‹ใ€XIVๅž‹ใ€XVๅž‹ใŒใ‚ใ‚‹๏ผˆ็ญ‹ๅž‹็ณ–ๅŽŸ็—…ๅฏพๅฟœ่กจๅ‚็…ง๏ผ‰ใ€‚"@ja ; - terms:identifier "1200823" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:description "็ณ–ๅŽŸ็—…ใฏใ€ๅ…ˆๅคฉ็š„ใชใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ๅคงใใ่‚ๅž‹ใ€็ญ‹ๅž‹ใฎ็—…ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹ใงใฏไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹ใงใฏๆ€ฅๆ€ง็—‡็Šถใจใ—ใฆๆจช็ด‹็ญ‹่ž่งฃ็—‡ใ€ใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใชใฉใ‚’ๆฅใ—ใ€่…Žไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸ่€ๅนดๆœŸใงใฏ็ญ‹ๅŠ›ไฝŽไธ‹๏ผˆ้€ฒ่กŒๆ€ง๏ผ‰ใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…ใฎๅฅฝ็™บ็—…ๅž‹ใฏIIใ€IIIใ€Vใ€VIIๅž‹ใงใ€ๅ…จไฝ“ใฎ90๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎๅธŒใช็ญ‹ๅž‹็—…ๅž‹ใจใ—ใฆ0ๅž‹ใ€IVๅž‹ใ€IXๅž‹ใ€ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆPGK๏ผ‰ๆฌ ๆ็—‡ใ€Xๅž‹ใ€XIๅž‹ใ€XIIๅž‹ใ€XIIIๅž‹ใ€XIVๅž‹ใ€XVๅž‹ใŒใ‚ใ‚‹๏ผˆ็ญ‹ๅž‹็ณ–ๅŽŸ็—…ๅฏพๅฟœ่กจๅ‚็…ง๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:1200823" ; + dcterms:source ; a owl:Class ; - rdfs:label "Muscle Glycogen Storage Disease"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; + rdfs:label "Muscle glycogen storage disease"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Glycogen storage disease type VII"@en, "Muscular glycogenosis"@en, "Skeletal muscle glycogenosis"@en ; - skos:closeMatch mondo:MONDO_0009295, mondo:MONDO_0016118 ; + skos:closeMatch obo:MONDO_0009295, obo:MONDO_0016118 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…"@ja . -:1200824 - :hasNotificationNumber "256" ; - terms:identifier "1200824" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200824" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type 0"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Glycogen synthase deficiency"@en, "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009414, mondo:MONDO_0017693 ; + rdfs:label "Glycogen storage diseases type 0"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Glycogen synthase deficiency"@en, "็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja, "็ณ–ๅŽŸ็—…0bๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009414, obo:MONDO_0017693 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…0ๅž‹"@ja . -:1200825 - :hasNotificationNumber "256" ; - terms:identifier "1200825" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200825" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type II"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Pompe disease"@en, "Pompe็—…"@ja ; - skos:closeMatch mondo:MONDO_0009290 ; + rdfs:label "Glycogen storage diseases type II"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†2ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Acid maltase deficiency"@en, "Pompe disease"@en, "Pompe็—…"@ja, "ใƒใƒณใƒš็—…"@ja ; + skos:closeMatch obo:MONDO_0009290 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIๅž‹"@ja . -:1200826 - :hasNotificationNumber "256" ; - terms:identifier "1200826" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200826" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type III"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Cori disease"@en, "Cori็—…"@ja ; - skos:closeMatch mondo:MONDO_0009291 ; + rdfs:label "Glycogen storage diseases type III"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Cori disease"@en, "Cori็—…"@ja, "ใ‚ณใƒผใƒชใƒผ็—…"@ja ; + skos:closeMatch obo:MONDO_0009291 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹"@ja . -:1200827 - :hasNotificationNumber "256" ; - terms:identifier "1200827" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200827" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type IV"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Andersen disease"@en, "Andersen็—…"@ja ; - skos:closeMatch mondo:MONDO_0008222, mondo:MONDO_0009292 ; + rdfs:label "Glycogen storage diseases type IV"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Andersen disease"@en, "Andersen็—…"@ja, "ใ‚ขใƒณใƒ€ใƒผใ‚นใƒณ็—…"@ja, "ใ‚ขใƒณใƒ€ใƒผใ‚ฝใƒณ็—…"@ja ; + skos:closeMatch obo:MONDO_0008222, obo:MONDO_0009292 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja . -:1200828 - :hasNotificationNumber "256" ; - terms:identifier "1200828" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200828" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type V"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "McArdle disease"@en, "McArdle็—…"@ja ; - skos:closeMatch mondo:MONDO_0009293 ; + rdfs:label "Glycogen storage diseases type V"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†5ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "McArdle disease"@en, "McArdle็—…"@ja, "ใƒžใƒƒใ‚ซใƒผใƒ‰ใƒซ็—…"@ja ; + skos:closeMatch obo:MONDO_0009293 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Vๅž‹"@ja . -:1200829 - :hasNotificationNumber "256" ; - terms:identifier "1200829" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200829" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type VII"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Tarui disease"@en, "Tarui็—…"@ja ; - skos:closeMatch mondo:MONDO_0009295 ; + rdfs:label "Glycogen storage diseases type VII"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†7ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Tarui disease"@en, "Tarui็—…"@ja, "ๅž‚ไบ•็—…"@ja ; + skos:closeMatch obo:MONDO_0009295 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…VIIๅž‹"@ja . -:1200830 - :hasNotificationNumber "256" ; - terms:identifier "1200830" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200830" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type IXd"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010362 ; + rdfs:label "Glycogen storage diseases type IXd"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใงใƒใƒผใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GSD IXd"@en, "PHKA1-Related Phosphorylase Kinase Deficiency"@en ; + skos:closeMatch obo:MONDO_0010362 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…IXdๅž‹"@ja . -:1200831 - :hasNotificationNumber "256" ; - terms:identifier "1200831" ; - terms:source ; - a owl:Class ; - rdfs:label "PGKๆฌ ๆ็—‡"@ja, "Phosphoglycerate kinase deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010392 ; - skos:prefLabel "PGKๆฌ ๆ็—‡"@ja . - -:1200832 - :hasNotificationNumber "256" ; - terms:identifier "1200832" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage diseases type X"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009865 ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200831" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Phosphoglycerate kinase deficiency"@en, "ใปใ™ใปใใ‚Šใ›ใ‚Šใ‚“ใ•ใ‚“ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PGK deficiency"@en, "PGKๆฌ ๆ็—‡"@ja, "Phosphoglycerate kinaseๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010392 ; + skos:prefLabel "ใƒ›ใ‚นใƒ›ใ‚ฐใƒชใ‚ปใƒชใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200832" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage diseases type X"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†10ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PGAM deficiency"@en, "Phosphoglycerate mutase deficiency"@en ; + skos:closeMatch obo:MONDO_0009865 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…Xๅž‹"@ja . -:1200833 - :hasNotificationNumber "256" ; - terms:identifier "1200833" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200833" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type XI"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Kanno disease"@en, "Kanno็—…"@ja ; - skos:closeMatch mondo:MONDO_0009216, mondo:MONDO_0013047 ; + rdfs:label "Glycogen storage diseases type XI"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†11ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FBS"@en, "Fanconi-Bickel syndrome"@en, "Kanno disease"@en, "Kanno็—…"@ja ; + skos:closeMatch obo:MONDO_0013047 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIๅž‹"@ja . -:1200834 - :hasNotificationNumber "256" ; - terms:identifier "1200834" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200834" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type XII"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012747 ; + rdfs:label "Glycogen storage diseases type XII"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†12ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012747 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIๅž‹"@ja . -:1200835 - :hasNotificationNumber "256" ; - terms:identifier "1200835" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200835" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type XIII"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013046 ; + rdfs:label "Glycogen storage diseases type XIII"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†13ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GSDXIII"@en ; + skos:closeMatch obo:MONDO_0013046 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIIIๅž‹"@ja . -:1200836 - :hasNotificationNumber "256" ; - terms:identifier "1200836" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200836" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type XIV"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013968 ; + rdfs:label "Glycogen storage diseases type XIV"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†14ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Glycogenosis type XIV"@en ; + skos:closeMatch obo:MONDO_0013968 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XIVๅž‹"@ja . -:1200837 - :hasNotificationNumber "256" ; - terms:identifier "1200837" ; - terms:source ; + + nando:hasNotificationNumber "256" ; + dcterms:identifier "NANDO:1200837" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage diseases type XV"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013291 ; + rdfs:label "Glycogen storage diseases type XV"@en, "ใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†15ใŒใŸ"@ja-Hira, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GSD XV"@en ; + skos:closeMatch obo:MONDO_0013291 ; skos:prefLabel "็ญ‹ๅž‹็ณ–ๅŽŸ็—…XVๅž‹"@ja . -:1200838 - :hasNotificationNumber "257" ; - terms:description "็ณ–ๅŽŸ็—…ใฏ็ณ–ไปฃ่ฌใฎ็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚็ณ–ใ‚’ใ‚จใƒใƒซใ‚ฎใƒผใจใ—ใฆ่“„็ฉใ™ใ‚‹ใŸใ‚ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใธใจๅค‰ๆ›ใ™ใ‚‹็ณปใ€ๅŠใณ่“„็ฉใ—ใŸใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ไปฃ่ฌใ™ใ‚‹็ณปใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š็ณ–ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚้šœๅฎณใ‚’ๅ—ใ‘ใŸ้…ต็ด ใฎ็™บ็พ้ƒจไฝใซใ‚ˆใ‚Š่‚ๅž‹ใƒป็ญ‹ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹็ณ–ๅŽŸ็—…ใซใฏIใ€IIIใ€IVใ€VIใ€IXๅž‹ใŒใ‚ใ‚Šใ€ไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200838" ; + + nando:hasNotificationNumber "257" ; + dcterms:description "็ณ–ๅŽŸ็—…ใฏ็ณ–ไปฃ่ฌใฎ็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚็ณ–ใ‚’ใ‚จใƒใƒซใ‚ฎใƒผใจใ—ใฆ่“„็ฉใ™ใ‚‹ใŸใ‚ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใธใจๅค‰ๆ›ใ™ใ‚‹็ณปใ€ๅŠใณ่“„็ฉใ—ใŸใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ไปฃ่ฌใ™ใ‚‹็ณปใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š็ณ–ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚้šœๅฎณใ‚’ๅ—ใ‘ใŸ้…ต็ด ใฎ็™บ็พ้ƒจไฝใซใ‚ˆใ‚Š่‚ๅž‹ใƒป็ญ‹ๅž‹ใซๅคงๅˆฅใงใใ‚‹ใ€‚ใ—ใ‹ใ—้…ต็ด ็™บ็พใฎ่‡“ๅ™จ็‰น็•ฐๆ€งใ‹ใ‚‰ใ€่‚่‡“ใ€็ญ‹่‚‰ไปฅๅค–ใฎไป–่‡“ๅ™จใฎ้šœๅฎณใŒ่‡จๅบŠ็—‡็Šถใจใ—ใฆไธฆๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่‚ๅž‹็ณ–ๅŽŸ็—…ใซใฏIใ€IIIใ€IVใ€VIใ€IXๅž‹ใŒใ‚ใ‚Šใ€ไฝŽ่ก€็ณ–ใ€่‚ๆฉŸ่ƒฝ้šœๅฎณใ€ๆˆไบบๆœŸใซ่‚็กฌๅค‰ใ€่‚่…ซ็˜ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200838" ; a owl:Class ; - rdfs:label "Hepatic Glycogen Storage Disease"@en, "่‚ๅž‹็ณ–ๅŽŸ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Hepatic glycogen storage disease"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Hepatic glycogenosis"@en ; + skos:closeMatch obo:MONDO_0002412, obo:MONDO_0009414 ; skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…"@ja . -:1200839 - :hasNotificationNumber "257" ; - terms:identifier "1200839" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type I-III-VI-IX"@en, "็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹"@ja . - -:1200840 - :hasNotificationNumber "257" ; - terms:identifier "1200840" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type Ia"@en, "็ณ–ๅŽŸ็—…โ… aๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Glycogen storage disease due to glucose-6-phosphatase deficiency"@en, "ใ‚ฏใ‚™ใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ปใ‚™ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0002413, mondo:MONDO_0009287 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ… aๅž‹"@ja . - -:1200841 - :hasNotificationNumber "257" ; - terms:identifier "1200841" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type Ib"@en, "็ณ–ๅŽŸ็—…โ… bๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "G6P translocase deficiency"@en, "G6PT deficiency"@en, "ใ‚ฏใ‚™ใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ปใ‚™ใƒˆใƒฉใƒณใ‚นใƒ›ใ‚šใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009288, mondo:MONDO_0023258 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ… bๅž‹"@ja . - -:1200842 - :hasNotificationNumber "257" ; - terms:identifier "1200842" ; - terms:source ; - a owl:Class ; - rdfs:label "GSD type IIIa"@en, "็ณ–ๅŽŸ็—…โ…ขaๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Glycogen storage disease due to glycogen debranching enzyme deficiency"@en, "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009291 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ขaๅž‹"@ja . - -:1200843 - :hasNotificationNumber "257" ; - terms:identifier "1200843" ; - terms:source ; - a owl:Class ; - rdfs:label "GSD type IIIb"@en, "็ณ–ๅŽŸ็—…โ…ขbๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + dcterms:identifier "NANDO:1200839" ; + a owl:Class ; + rdfs:label "obsolete Hepatic glycogen storage disease type I-III-VI-IX"@en, "obsolete ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1-3-6-9ใŒใŸ"@ja-Hira, "obsolete ่‚ๅž‹็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹"@ja ; + rdfs:subClassOf ; + rdfs:subClassof ; + owl:deprecated true ; + skos:prefLabel "obsolete ่‚ๅž‹็ณ–ๅŽŸ็—…โ… -โ…ข-โ…ฅ-โ…จๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200840" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type Ia"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใˆใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…Iaๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Glucose-6-phosphatase deficiency "@en, "Glycogen storage disease due to glucose-6-phosphatase deficiency"@en, "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0002413 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…Iaๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200841" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type Ib"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…Ibๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "G6P translocase deficiency"@en, "G6PT deficiency"@en, "Glucose-6-phosphate translocase deficiency"@en, "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009288, obo:MONDO_0023258 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…Ibๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200842" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic GSD type IIIa"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใˆใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IIIaๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IIIa"@en, "Glycogen storage disease due to glycogen debranching enzyme deficiency"@en, "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡"@ja ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IIIaๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200843" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic GSD type IIIb"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใณใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IIIbๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Glycogen storage disease due to glycogen debranching enzyme deficiency"@en, "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009291 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ขbๅž‹"@ja . - -:1200844 - :hasNotificationNumber "257" ; - terms:identifier "1200844" ; - terms:source ; - a owl:Class ; - rdfs:label "GSD type IIIc"@en, "็ณ–ๅŽŸ็—…โ…ขcๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "amylo 1,6- glucosidase deficiency"@en, "ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009291 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ขcๅž‹"@ja . - -:1200845 - :hasNotificationNumber "257" ; - terms:identifier "1200845" ; - terms:source ; - a owl:Class ; - rdfs:label "GSD type IIId"@en, "็ณ–ๅŽŸ็—…โ…ขdๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IIIbๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200844" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic GSD type IIIc"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใ—ใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IIIcๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Amylo-1,6-glucosidase deficiency"@en, "ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009291 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IIIcๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200845" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic GSD type IIId"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IIIdๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "4-alpha-glucanotransferase deficiency"@en, "ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ขdๅž‹"@ja . - -:1200846 - :hasNotificationNumber "257" ; - terms:identifier "1200846" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type VI"@en, "็ณ–ๅŽŸ็—…โ…ฅๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Hepatic phosphorylase deficiency"@en, "Hers disease"@en, "ใƒใƒผใ‚น็—…"@ja, "่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009294 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ฅๅž‹"@ja . - -:1200847 - :hasNotificationNumber "257" ; - terms:identifier "1200847" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type โ…จa"@en, "็ณ–ๅŽŸ็—…โ…จaๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰"@ja ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…จaๅž‹"@ja . - -:1200848 - :hasNotificationNumber "257" ; - terms:identifier "1200848" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type โ…จb"@en, "็ณ–ๅŽŸ็—…โ…จbๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰"@ja ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…จbๅž‹"@ja . - -:1200849 - :hasNotificationNumber "257" ; - terms:identifier "1200849" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type โ…จc"@en, "็ณ–ๅŽŸ็—…โ…จcๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰"@ja ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…จcๅž‹"@ja . - -:1200850 - :hasNotificationNumber "257" ; - terms:identifier "1200850" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type IV"@en, "โ…ฃๅž‹็ณ–ๅŽŸ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009292 ; - skos:prefLabel "โ…ฃๅž‹็ณ–ๅŽŸ็—…"@ja . - -:1200851 - :hasNotificationNumber "258" ; - terms:description "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅˆใฏๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200851" ; - terms:source ; - a owl:Class ; - rdfs:label "Galactose-1-phosphate Uridyltransferase Deficiency"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "GALT deficiency"@en, "Galactose-1-phosphate uridylyltransferase deficiency"@en, "Galactosemia type 1"@en ; - skos:closeMatch mondo:MONDO_0009258 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IIIdๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200846" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type VI"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†6ใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…VIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Glycogenosis type VI"@en, "Hepatic phosphorylase deficiency"@en, "Hers disease"@en, "ใƒใƒผใ‚น็—…"@ja, "่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009294 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…VIๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200847" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type IXa"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใˆใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IXaๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GSD type IXa"@en, "Hepatic glycogen storage disease type IX a"@en, "ฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚ๅž‹๏ผ‰"@ja, "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฑใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0010598 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IXaๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200848" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type IXb"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใณใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IXbๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GSD type IXb"@en, "Hepatic glycogen storage disease type IX b"@en, "ฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚็ญ‹ๅž‹๏ผ‰"@ja, "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0009868 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IXbๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200849" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type IXc"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใ—ใƒผใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IXcๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GSD type IXc"@en, "Hepatic glycogen storage disease type IX c"@en, "ฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผˆ่‚ๅž‹๏ผ‰"@ja, "ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผˆฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆ็•ฐๅธธ็—‡๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0013091 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IXcๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1200850" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type IV"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "GSD IV"@en, "ใ‚ขใƒŸใƒญ1๏ผŒ4โ†’1๏ผŒ6ใƒˆใƒฉใƒณใ‚นใ‚ฐใƒซใ‚ณใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009292 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja . + + + nando:hasNotificationNumber "258" ; + dcterms:description "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆๅˆใฏๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200851" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactose-1-phosphate uridyltransferase deficiency"@en, "ใŒใ‚‰ใใจใƒผใ™1ใ‚Šใ‚“ใ•ใ‚“ใ†ใ‚Šใ˜ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "GALT deficiency"@en, "GALTๆฌ ๆ็—‡"@ja, "Galactose-1-phosphate uridylyltransferase deficiency"@en, "Galactosemia type 1"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น่ก€็—‡I ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009258 ; skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200852 - :hasNotificationNumber "259" ; - terms:description "ๅฎถๆ—ๆ€งใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆlecithin cholesterol acyl transferase๏ผšLCAT๏ผ‰ๆฌ ๆ็—‡ใฏใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฎใจใ“ใ‚ไธ–็•Œใง80็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใจใ‚Šใ‚ใ‘ใ€ๅŒ—ๆฌงใ‚„ๆˆ‘ใŒๅ›ฝใงใฎๅ ฑๅ‘ŠใŒๅคšใ„ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใช้…ต็ด  LCATใฎ้…ต็ด ๆฌ ๆใ‚„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€้Š้›ขใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒฌใ‚ทใƒใƒณ๏ผˆใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณ๏ผ‰ใŒๅข—ๅŠ ใ—ใ€ใใฎ็ตๆžœHDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่‘—ๅใชไฝŽไธ‹ๅŠใณ่ก€ๆธ…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚็ต„ๆˆใฎๅค‰ๅŒ–ใ—ใŸใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใŒ็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใงใ€่ง’่†œๆททๆฟใ€ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่…Ž้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "1200852" ; - terms:source ; - a owl:Class ; - rdfs:label "Lecithin Cholesterol Acyltransferase Deficiency"@en, "ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "LCAT deficiency"@en ; - skos:closeMatch mondo:MONDO_0009515, mondo:MONDO_0018999 ; + + nando:hasNotificationNumber "259" ; + dcterms:description "ๅฎถๆ—ๆ€งใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆlecithin cholesterol acyl transferase๏ผšLCAT๏ผ‰ๆฌ ๆ็—‡ใฏใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็พๅœจใฎใจใ“ใ‚ไธ–็•Œใง80็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใจใ‚Šใ‚ใ‘ใ€ๅŒ—ๆฌงใ‚„ๆˆ‘ใŒๅ›ฝใงใฎๅ ฑๅ‘ŠใŒๅคšใ„ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใช้…ต็ด  LCATใฎ้…ต็ด ๆฌ ๆใ‚„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€้Š้›ขใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒฌใ‚ทใƒใƒณ๏ผˆใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณ๏ผ‰ใŒๅข—ๅŠ ใ—ใ€ใใฎ็ตๆžœHDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่‘—ๅใชไฝŽไธ‹ๅŠใณ่ก€ๆธ…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚’่ชใ‚ใ‚‹ใ€‚็ต„ๆˆใฎๅค‰ๅŒ–ใ—ใŸใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใŒ็ต„็น”ใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใงใ€่ง’่†œๆททๆฟใ€ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่…Ž้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200852" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lecithin cholesterol acyltransferase deficiency"@en, "ใ‚Œใ—ใกใ‚“ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‚ใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "LCAT deficiency"@en, "LCATๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009515, obo:MONDO_0018999 ; skos:prefLabel "ใƒฌใ‚ทใƒใƒณใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ขใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200853 - :hasNotificationNumber "260" ; - terms:description "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ใจใ‚‹้บไผๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚Šใ€ๆžœ็‰ฉใ‚„้‡Ž่œใซๅซใพใ‚Œใ‚‹ๆค็‰ฉใ‚นใƒ†ใƒญใƒผใƒซใฎไธ€็จฎใงใ‚ใ‚‹ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใฎๆŽ’ๆณ„ไฝŽไธ‹ใซใ‚ˆใ‚Š่ก€ไธญๅˆใฏ็ต„็น”ใซใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซใ‚„ๆ—ฉ็™บๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใจใ„ใฃใŸ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200853" ; - terms:source ; - a owl:Class ; - rdfs:label "Sitosterolemia"@en, "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008863 ; + + nando:hasNotificationNumber "260" ; + dcterms:description "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ใจใ‚‹้บไผๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚Šใ€ๆžœ็‰ฉใ‚„้‡Ž่œใซๅซใพใ‚Œใ‚‹ๆค็‰ฉใ‚นใƒ†ใƒญใƒผใƒซใฎไธ€็จฎใงใ‚ใ‚‹ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใฎๆŽ’ๆณ„ไฝŽไธ‹ใซใ‚ˆใ‚Š่ก€ไธญๅˆใฏ็ต„็น”ใซใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซใ‚„ๆ—ฉ็™บๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใจใ„ใฃใŸ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200853" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sitosterolemia"@en, "ใ—ใจใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Sitosterolaemia"@en ; + skos:closeMatch obo:MONDO_0008863 ; skos:prefLabel "ใ‚ทใƒˆใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡"@ja . -:1200854 - :hasNotificationNumber "261" ; - terms:description "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…ใฏใ€่ก€ๆธ…HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใƒปใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-๏ผฉๆฟƒๅบฆใŒ่‘—ใ—ใ„ไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Šใ€HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๆฌ ๆ็—‡ใฎใปใ‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๅ’ฝ้ ญๆ‰ๆกƒ่…ซๅคงใ€่‚่„พ่…ซใ€่ง’่†œๆททๆฟใ€ๆœซๆขข็ฅž็ตŒ้šœๅฎณใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-๏ผฉใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซใŠใ„ใฆ้‡่ฆใชATP binding cassette transporter A1๏ผˆABCA1๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ–็•Œ็š„ใซใ‚‚ใพใ‚Œใงๆˆ‘ใŒๅ›ฝใงใฏ10ๅฎถ็ณป็จ‹ๅบฆใฎๅ ฑๅ‘Šใ—ใ‹ใชใ„ใ€‚่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๆฅใ™ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200854" ; - terms:source ; - a owl:Class ; - rdfs:label "Tangier disease"@en, "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008783 ; + + nando:hasNotificationNumber "261" ; + dcterms:description "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…ใฏใ€่ก€ๆธ…HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใƒปใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-๏ผฉๆฟƒๅบฆใŒ่‘—ใ—ใ„ไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Šใ€HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๆฌ ๆ็—‡ใฎใปใ‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๅ’ฝ้ ญๆ‰ๆกƒ่…ซๅคงใ€่‚่„พ่…ซใ€่ง’่†œๆททๆฟใ€ๆœซๆขข็ฅž็ตŒ้šœๅฎณใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-๏ผฉใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซใŠใ„ใฆ้‡่ฆใชATP binding cassette transporter A1๏ผˆABCA1๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ–็•Œ็š„ใซใ‚‚ใพใ‚Œใงๆˆ‘ใŒๅ›ฝใงใฏ10ๅฎถ็ณป็จ‹ๅบฆใฎๅ ฑๅ‘Šใ—ใ‹ใชใ„ใ€‚่‹ฅๅนดๆ€งๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๆฅใ™ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200854" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tangier disease"@en, "ใŸใ‚“ใ˜ใƒผใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Tangier็—…"@ja ; + skos:closeMatch obo:MONDO_0008783 ; skos:prefLabel "ใ‚ฟใƒณใ‚ธใƒผใƒซ็—…"@ja . -:1200855 - :hasNotificationNumber "262" ; - terms:description "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณไปฃ่ฌใซๅฟ…่ฆใช้…ต็ด ใฎๆฌ ๆใ‚„ใ€่ผธ้€่›‹็™ฝใฎๆฌ ๆใชใฉใซใ‚ˆใ‚Šใ€่ก€ไธญใซ็•ฐๅธธใซใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซ๏ผˆ็™บ็–นๆ€ง้ป„่‰ฒ่…ซ๏ผ‰ใ‚„ใ€ๆ™‚ใซๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ•ใ›ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณช็•ฐๅธธ็—‡ใฎWHOๅˆ†้กžใงใฏIๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎๅข—ๅŠ ๏ผ‰ๅŠใณVๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใจVLDLใฎๅข—ๅŠ ๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’็คบใ™ใ€‚ใ€€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใจใ—ใฆใ€ใƒชใƒ่›‹็™ฝใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏC-IIๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-Vๆฌ ๆ็—‡ใ€GPIHBP1ๆฌ ๆ็—‡ใ€LMF1ๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€ง๏ผถๅž‹้ซ˜่„‚่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใ‚‚่ก€ๆธ…ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ไธŠๆ˜‡ใซใ‚ˆใ‚Šๆ€ฅๆ€ง่†ต็‚Žใฎ็™บ็—‡ใƒป้‡็—‡ๅŒ–ใƒชใ‚นใ‚ฏใŒ้ซ˜ใใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200855" ; - terms:source ; + + nando:hasNotificationNumber "262" ; + dcterms:description "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณไปฃ่ฌใซๅฟ…่ฆใช้…ต็ด ใฎๆฌ ๆใ‚„ใ€่ผธ้€่›‹็™ฝใฎๆฌ ๆใชใฉใซใ‚ˆใ‚Šใ€่ก€ไธญใซ็•ฐๅธธใซใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใŒ่“„็ฉใ—ใ€้ป„่‰ฒ่…ซ๏ผˆ็™บ็–นๆ€ง้ป„่‰ฒ่…ซ๏ผ‰ใ‚„ใ€ๆ™‚ใซๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ•ใ›ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณช็•ฐๅธธ็—‡ใฎWHOๅˆ†้กžใงใฏIๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎๅข—ๅŠ ๏ผ‰ๅŠใณVๅž‹๏ผˆใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใจVLDLใฎๅข—ๅŠ ๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’็คบใ™ใ€‚ใ€€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใจใ—ใฆใ€ใƒชใƒ่›‹็™ฝใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏC-IIๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-Vๆฌ ๆ็—‡ใ€GPIHBP1ๆฌ ๆ็—‡ใ€LMF1ๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€ง๏ผถๅž‹้ซ˜่„‚่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใ‚‚่ก€ๆธ…ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ไธŠๆ˜‡ใซใ‚ˆใ‚Šๆ€ฅๆ€ง่†ต็‚Žใฎ็™บ็—‡ใƒป้‡็—‡ๅŒ–ใƒชใ‚นใ‚ฏใŒ้ซ˜ใใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200855" ; + dcterms:source ; a owl:Class ; - rdfs:label "Primary Hyperchylomicronemia"@en, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Primary hyperchylomicronemia"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ„ใ‚ใฟใใ‚ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Primary hyperchylomicronaemia"@en ; skos:prefLabel "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡"@ja . -:1200856 - :hasNotificationNumber "263" ; - terms:description "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡๏ผˆ27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใฏใ€ใ‚ทใƒˆใ‚ฏใƒญใƒ P-450๏ผˆCYP๏ผ‰้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚ŠCYP่›‹็™ฝใงใ‚ใ‚‹27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆCYP27๏ผ‰ๆดปๆ€งใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฅž็ตŒ็ต„็น”ใ‚„่…ฑ็ต„็น”ใซ่“„็ฉใ—ใŸ่„‚่ณชๆˆๅˆ†ใŒใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅŠใณใ‚ณใƒฌใ‚นใ‚ฟใƒŽใƒผใƒซ๏ผˆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใซ้กžไผผใ—ใŸๆง‹้€ ใ‚’็คบใ™็‰ฉ่ณช๏ผ‰ใงใ‚ใฃใŸใ“ใจใ‹ใ‚‰ใ€ๅ…ˆๅคฉๆ€งใ‚นใƒ†ใƒญใƒผใƒซ่“„็ฉ็—‡ใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏ60ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใฟใ‚‰ใ‚Œใ€20ๆญณไปฅๅ‰ใซๅคšใใŒ็™บ็—‡ใ—ใ€ๅนณๅ‡ๅนด้ฝขใŒ็”ทๆ€ง40.4ๆญณใ€ๅฅณๆ€ง36.8ๆญณใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็Ÿฅ่ƒฝไฝŽไธ‹ใƒป้Œ˜ไฝ“่ทฏ็—‡็Šถใƒปๅฐ่„ณ็—‡็Šถใชใฉใฎ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณใ€ใ‚ขใ‚ญใƒฌใ‚น่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ€ๆ—ฉ็™บๆ€งๅฟƒ่ก€็ฎก็–พๆ‚ฃใชใฉใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200856" ; - terms:source ; - a owl:Class ; - rdfs:label "Cerebrotendinous xanthomatosis"@en, "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008948 ; + + nando:hasNotificationNumber "263" ; + dcterms:description "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡๏ผˆ27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใฏใ€ใ‚ทใƒˆใ‚ฏใƒญใƒ P-450๏ผˆCYP๏ผ‰้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚ŠCYP่›‹็™ฝใงใ‚ใ‚‹27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆCYP27๏ผ‰ๆดปๆ€งใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฅž็ตŒ็ต„็น”ใ‚„่…ฑ็ต„็น”ใซ่“„็ฉใ—ใŸ่„‚่ณชๆˆๅˆ†ใŒใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅŠใณใ‚ณใƒฌใ‚นใ‚ฟใƒŽใƒผใƒซ๏ผˆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใซ้กžไผผใ—ใŸๆง‹้€ ใ‚’็คบใ™็‰ฉ่ณช๏ผ‰ใงใ‚ใฃใŸใ“ใจใ‹ใ‚‰ใ€ๅ…ˆๅคฉๆ€งใ‚นใƒ†ใƒญใƒผใƒซ่“„็ฉ็—‡ใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏ60ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใฟใ‚‰ใ‚Œใ€20ๆญณไปฅๅ‰ใซๅคšใใŒ็™บ็—‡ใ—ใ€ๅนณๅ‡ๅนด้ฝขใŒ็”ทๆ€ง40.4ๆญณใ€ๅฅณๆ€ง36.8ๆญณใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็Ÿฅ่ƒฝไฝŽไธ‹ใƒป้Œ˜ไฝ“่ทฏ็—‡็Šถใƒปๅฐ่„ณ็—‡็Šถใชใฉใฎ้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณใ€ใ‚ขใ‚ญใƒฌใ‚น่…ฑ้ป„่‰ฒ่…ซๅŠใณ่‹ฅๅนดๆ€ง็™ฝๅ†…้šœใ€ๆ—ฉ็™บๆ€งๅฟƒ่ก€็ฎก็–พๆ‚ฃใชใฉใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200856" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cerebrotendinous xanthomatosis"@en, "ใฎใ†ใ‘ใ‚“ใŠใ†ใ—ใ‚‡ใใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "27-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja, "CTX"@en ; + skos:closeMatch obo:MONDO_0008948 ; skos:prefLabel "่„ณ่…ฑ้ป„่‰ฒ่…ซ็—‡"@ja . -:1200857 - :hasNotificationNumber "264" ; - terms:description "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ใฏ่‘—ใ—ใ„ไฝŽใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ๅŠใณไฝŽใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’ๆฅใ™ใ€ใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒBๅซๆœ‰ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใ€VLDLใ€LDLใŒๆฌ ๅฆ‚ใ—ใฆใŠใ‚Šใ€ๆ‚ฃ่€…่ก€ไธญใซใ‚ขใƒBใฏใ‚ขใƒB-48ใ€ใ‚ขใƒB-100ใจใ‚‚ใซ่ชใ‚ใชใ„ใ€‚่„‚่‚ชๅธๅŽ้šœๅฎณใจใใ‚Œใซใ‚ˆใ‚‹่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไน็—‡ใŒๆŽˆไนณ้–‹ๅง‹ๆ™‚ใ‚ˆใ‚ŠๆŒ็ถšใ™ใ‚‹ใŸใ‚ใ€้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้•ทๆœŸใซ็ถ™็ถšใ—ใชใ„ใจไธๅฏ้€†็š„ใช็œผ็—‡็Šถใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ—ใ†ใ‚‹ใ€‚1993ๅนดใซๆœฌ็–พๆ‚ฃใซใŠใ„ใฆMTPใฎ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚Œใ€MTPๆฌ ๆ็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200857" ; - terms:source ; - a owl:Class ; - rdfs:label "Abetalipoproteinemia"@en, "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008692 ; + + nando:hasNotificationNumber "264" ; + dcterms:description "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ใฏ่‘—ใ—ใ„ไฝŽใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ๅŠใณไฝŽใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ก€็—‡ใ‚’ๆฅใ™ใ€ใพใ‚ŒใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒBๅซๆœ‰ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใ€VLDLใ€LDLใŒๆฌ ๅฆ‚ใ—ใฆใŠใ‚Šใ€ๆ‚ฃ่€…่ก€ไธญใซใ‚ขใƒBใฏใ‚ขใƒB-48ใ€ใ‚ขใƒB-100ใจใ‚‚ใซ่ชใ‚ใชใ„ใ€‚่„‚่‚ชๅธๅŽ้šœๅฎณใจใใ‚Œใซใ‚ˆใ‚‹่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไน็—‡ใŒๆŽˆไนณ้–‹ๅง‹ๆ™‚ใ‚ˆใ‚ŠๆŒ็ถšใ™ใ‚‹ใŸใ‚ใ€้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้•ทๆœŸใซ็ถ™็ถšใ—ใชใ„ใจไธๅฏ้€†็š„ใช็œผ็—‡็Šถใ€็ฅž็ตŒ้šœๅฎณใ‚’ๆฅใ—ใ†ใ‚‹ใ€‚1993ๅนดใซๆœฌ็–พๆ‚ฃใซใŠใ„ใฆMTPใฎ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚Œใ€MTPๆฌ ๆ็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200857" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Abetalipoproteinemia"@en, "ใ‚€ในใƒผใŸใ‚ŠใฝใŸใ‚“ใฑใใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Abetalipoproteinaemia"@en, "MTPๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008692 ; skos:prefLabel "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡"@ja . -:1200858 - :hasNotificationNumber "265" ; - terms:description "่„‚่‚ช่Ž็ธฎ็—‡ใฏๅ…จ่บซๆ€งใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆ€งใซ่„‚่‚ช็ต„็น”ใŒๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ€่„‚่‚ช็ต„็น”ใฎๆถˆๅคฑใจใจใ‚‚ใซ้‡ๅบฆใฎใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ‚„้ซ˜ไธญๆ€ง่„‚่‚ช่ก€็—‡ใ€้žใ‚ขใƒซใ‚ณใƒผใƒซๆ€ง่„‚่‚ช่‚็‚Žใชใฉๆง˜ใ€…ใชไปฃ่ฌ็•ฐๅธธใ‚’็™บ็—‡ใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่‚ช่Ž็ธฎใใฎใ‚‚ใฎใซๅฏพใ™ใ‚‹ๆ นๆฒป็™‚ๆณ•ใฏ้–‹็™บใ•ใ‚Œใฆใ„ใชใ„ใŒใ€่„‚่‚ช่Ž็ธฎใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ‚’ไธญๅฟƒใจใ™ใ‚‹ไปฃ่ฌ็•ฐๅธธใซๅฏพใ—ใฆใฏใ€ใƒฌใƒ—ใƒใƒณใฎๆœ‰ๅŠนๆ€งใŒ่จผๆ˜Žใ•ใ‚Œใ€ใƒฌใƒ—ใƒใƒณ่ฃฝๅ‰คใฎๅธ‚่ฒฉใŒๆœ€่ฟ‘้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚"@ja ; - terms:identifier "1200858" ; - terms:source ; - a owl:Class ; - rdfs:label "Lipodystrophy"@en, "่„‚่‚ช่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006573 ; + + nando:hasNotificationNumber "265" ; + dcterms:description "่„‚่‚ช่Ž็ธฎ็—‡ใฏๅ…จ่บซๆ€งใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆ€งใซ่„‚่‚ช็ต„็น”ใŒๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ€่„‚่‚ช็ต„็น”ใฎๆถˆๅคฑใจใจใ‚‚ใซ้‡ๅบฆใฎใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ‚„้ซ˜ไธญๆ€ง่„‚่‚ช่ก€็—‡ใ€้žใ‚ขใƒซใ‚ณใƒผใƒซๆ€ง่„‚่‚ช่‚็‚Žใชใฉๆง˜ใ€…ใชไปฃ่ฌ็•ฐๅธธใ‚’็™บ็—‡ใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่‚ช่Ž็ธฎใใฎใ‚‚ใฎใซๅฏพใ™ใ‚‹ๆ นๆฒป็™‚ๆณ•ใฏ้–‹็™บใ•ใ‚Œใฆใ„ใชใ„ใŒใ€่„‚่‚ช่Ž็ธฎใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ‚’ไธญๅฟƒใจใ™ใ‚‹ไปฃ่ฌ็•ฐๅธธใซๅฏพใ—ใฆใฏใ€ใƒฌใƒ—ใƒใƒณใฎๆœ‰ๅŠนๆ€งใŒ่จผๆ˜Žใ•ใ‚Œใ€ใƒฌใƒ—ใƒใƒณ่ฃฝๅ‰คใฎๅธ‚่ฒฉใŒๆœ€่ฟ‘้–‹ๅง‹ใ•ใ‚ŒใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200858" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lipodystrophy"@en, "ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "่„‚่‚ช็•ฐๆ „้คŠ็—‡"@ja ; + skos:closeMatch obo:MONDO_0006573 ; skos:prefLabel "่„‚่‚ช่Ž็ธฎ็—‡"@ja . -:1200859 - :hasNotificationNumber "265" ; - terms:identifier "1200859" ; - terms:source ; + + nando:hasNotificationNumber "265" ; + dcterms:identifier "NANDO:1200859" ; + dcterms:source ; a owl:Class ; - rdfs:label "Generalized congenital lipodystrophy"@en, "ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018883 ; + rdfs:label "Generalized congenital lipodystrophy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Berardinelli-Seip syndrome"@en, "Berardinelli-Seip็—‡ๅ€™็พค"@ja, "CGL"@en ; + skos:closeMatch obo:MONDO_0006536, obo:MONDO_0018883 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja . -:1200860 - :hasNotificationNumber "265" ; - terms:identifier "1200860" ; - terms:source ; + + nando:hasNotificationNumber "265" ; + dcterms:identifier "NANDO:1200860" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acquired generalized lipodystrophy"@en, "ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019193 ; + rdfs:label "Acquired generalized lipodystrophy"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใœใ‚“ใ—ใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AGL"@en, "Lawrence syndrome"@en, "Lawrence็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0019193 ; skos:prefLabel "ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja . -:1200861 - :hasNotificationNumber "265" ; - terms:identifier "1200861" ; - terms:source ; + + nando:hasNotificationNumber "265" ; + dcterms:identifier "NANDO:1200861" ; + dcterms:source ; a owl:Class ; - rdfs:label "Familial partial lipodystrophy"@en, "ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020088 ; + rdfs:label "Familial partial lipodystrophy"@en, "ใ‹ใžใใ›ใ„ใถใถใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FPLD"@en ; + skos:closeMatch obo:MONDO_0020088 ; skos:prefLabel "ๅฎถๆ—ๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja . -:1200862 - :hasNotificationNumber "265" ; - terms:identifier "1200862" ; - terms:source ; + + nando:hasNotificationNumber "265" ; + dcterms:identifier "NANDO:1200862" ; + dcterms:source ; a owl:Class ; - rdfs:label "Partial acquired lipodystrophy"@en, "ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012104 ; + rdfs:label "Acquired partial lipodystrophy"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใถใถใ‚“ใ›ใ„ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "APL"@en, "Barraquer-Simons syndrome"@en, "Barraquer-Simons็—‡ๅ€™็พค"@ja, "Partial acquired lipodystrophy"@en ; + skos:closeMatch obo:MONDO_0012104 ; skos:prefLabel "ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja . -:1200863 - :hasNotificationNumber "266" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever๏ผšFMF๏ผ‰ใฏใ€็‚Ž็—‡็ตŒ่ทฏใฎใฒใจใคใงใ‚ใ‚‹ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ใฎๅƒใใ‚’ๆŠ‘ใˆใ‚‹ใƒ‘ใ‚คใƒชใƒณใฎ็•ฐๅธธใง็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บไฝœๆ€งใฎ็™บ็†ฑใ‚„้šไผด็—‡็Šถใจใ—ใฆๆผฟ่†œ็‚Žใซใ‚ˆใ‚‹ๆฟ€ใ—ใ„็–ผ็—›ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200863" ; - terms:source ; - a owl:Class ; - rdfs:label "Familial Mediterranean fever"@en, "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009572, mondo:MONDO_0018088 ; + + nando:hasNotificationNumber "266" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever๏ผšFMF๏ผ‰ใฏใ€็‚Ž็—‡็ตŒ่ทฏใฎใฒใจใคใงใ‚ใ‚‹ใ‚คใƒณใƒ•ใƒฉใƒžใ‚ฝใƒผใƒ ใฎๅƒใใ‚’ๆŠ‘ใˆใ‚‹ใƒ‘ใ‚คใƒชใƒณใฎ็•ฐๅธธใง็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บไฝœๆ€งใฎ็™บ็†ฑใ‚„้šไผด็—‡็Šถใจใ—ใฆๆผฟ่†œ็‚Žใซใ‚ˆใ‚‹ๆฟ€ใ—ใ„็–ผ็—›ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200863" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial Mediterranean fever"@en, "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใค"@ja-Hira, "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "FMF"@en ; + skos:closeMatch obo:MONDO_0018088 ; skos:prefLabel "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ"@ja . -:1200864 - :hasNotificationNumber "266" ; - terms:identifier "1200864" ; - terms:source ; - a owl:Class ; - rdfs:label "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200865 - :hasNotificationNumber "266" ; - terms:identifier "1200865" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical familial Mediterranean fever"@en, "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "266" ; + dcterms:identifier "NANDO:1200864" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Typical familial Mediterranean fever"@en, "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใคใฆใ‚“ใ‘ใ„ใ‚Œใ„"@ja-Hira, "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009572 ; + skos:prefLabel "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑๅ…ธๅž‹ไพ‹"@ja . + + + nando:hasNotificationNumber "266" ; + dcterms:identifier "NANDO:1200865" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical familial Mediterranean fever"@en, "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใคใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„"@ja-Hira, "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ้žๅ…ธๅž‹ไพ‹"@ja . -:1200866 - :hasNotificationNumber "267" ; - terms:description "้ซ˜IgD็—‡ๅ€™็พค๏ผˆHyper IgD Syndrome๏ผšHIDS๏ผ‰ใฏใ€ๅˆฅๅใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผˆMevalonate Kinase Deficiency๏ผšMKD๏ผ‰ใจใ‚‚่จ€ใ„ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMVK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ก€ๆธ…IgDใŒ้ซ˜ๅ€คใงใ‚ใ‚‹็—‡ไพ‹ใŒๅคšใ„ใ“ใจใงๅ‘ฝๅใŒใชใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200866" ; - terms:source ; - a owl:Class ; - rdfs:label "Hyper-IgD syndrome"@en, "้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Hyperimmunoglobulinemia D and periodic fever syndrome"@en ; - skos:closeMatch mondo:MONDO_0009849 ; - skos:prefLabel "้ซ˜๏ผฉ๏ฝ‡๏ผค็—‡ๅ€™็พค"@ja . - -:1200867 - :hasNotificationNumber "268" ; - terms:description "ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใจ้€ฒ่กŒๆ€งใฎใ‚„ใ›ใƒปๆถˆ่€—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€็‰น็•ฐใช้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใ€‚1939ๅนดใฎไธญๆขใ€1950ๅนดใฎ่ฅฟๆ‘ใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ใ€Œๅ‡็˜กใ‚’ๅˆไฝตใ™ใ‚‹้ชจ้ชจ่†œ็—‡ใ€ใชใฉใฎ็—…ๅใงใ€ๅ’ŒๆญŒๅฑฑใƒปๆณ‰ๅ—ใ‚’ไธญๅฟƒใจใ—ใŸ้–ข่ฅฟใจ้–ขๆฑใƒปๆฑๅŒ—ใ‹ใ‚‰ใ€ใ“ใ‚Œใพใงใซ30ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ใ€€ๅนผๅฐๅ…ๆœŸใซๅ‡็˜กๆง˜็šฎ็–นใซใฆ็™บ็—‡ใ—ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ‚„ๅ‘จๆœŸๆ€ง็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใชใŒใ‚‰ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆ็‰นๆœ‰ใจใ•ใ‚ŒใŸใŒใ€2010ๅนดใซๆœฌ็–พๆ‚ฃใจ่‡จๅบŠ็š„ใซ้…ทไผผใ™ใ‚‹็—‡ไพ‹ใŒJMP็—‡ๅ€™็พคใƒปCANDLE ็—‡ๅ€™็พคใจใ„ใ†็—…ๅใงๆฌง็ฑณใƒปไธญๆฑใ‹ใ‚‰ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚๏ผ“็–พๆ‚ฃใจใ‚‚ใ€ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ่ค‡ๅˆไฝ“ใฎ่ช˜ๅฐŽๅž‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹PSMB8้บไผๅญใซๅค‰็•ฐใฎใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใ‚Œใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅŒไธ€็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200867" ; - terms:source ; - a owl:Class ; - rdfs:label "Nakajo-Nishimura syndrome"@en, "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Autoinflammation, lipodystrophy, and dermatosis syndrome"@en, "CANDLE syndrome"@en, "JMP syndrome"@en ; - skos:closeMatch mondo:MONDO_0009726, mondo:MONDO_0016849, mondo:MONDO_0017959, mondo:MONDO_0017960, mondo:MONDO_0054698 ; + + nando:hasNotificationNumber "267" ; + dcterms:description "้ซ˜IgD็—‡ๅ€™็พค๏ผˆHyper IgD Syndrome๏ผšHIDS๏ผ‰ใฏใ€ๅˆฅๅใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผˆMevalonate Kinase Deficiency๏ผšMKD๏ผ‰ใจใ‚‚่จ€ใ„ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMVK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ก€ๆธ…IgDใŒ้ซ˜ๅ€คใงใ‚ใ‚‹็—‡ไพ‹ใŒๅคšใ„ใ“ใจใงๅ‘ฝๅใŒใชใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200866" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hyper IgD syndrome"@en, "ใ“ใ†ใ‚ใ„ใ˜ใƒผใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ซ˜IgD็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "HIDS"@en, "Hyperimmunoglobulinemia D and periodic fever syndrome"@en, "MKD"@en, "Mevalonate kinase deffiency"@en, "ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009849, obo:MONDO_0012481 ; + skos:prefLabel "้ซ˜IgD็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "268" ; + dcterms:description "ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใจ้€ฒ่กŒๆ€งใฎใ‚„ใ›ใƒปๆถˆ่€—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€็‰น็•ฐใช้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚‹ใ€‚1939ๅนดใฎไธญๆขใ€1950ๅนดใฎ่ฅฟๆ‘ใ‚‰ใฎๅ ฑๅ‘Šไปฅๆฅใ€ใ€Œๅ‡็˜กใ‚’ๅˆไฝตใ™ใ‚‹้ชจ้ชจ่†œ็—‡ใ€ใชใฉใฎ็—…ๅใงใ€ๅ’ŒๆญŒๅฑฑใƒปๆณ‰ๅ—ใ‚’ไธญๅฟƒใจใ—ใŸ้–ข่ฅฟใจ้–ขๆฑใƒปๆฑๅŒ—ใ‹ใ‚‰ใ€ใ“ใ‚Œใพใงใซ30ไพ‹ใปใฉใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚ใ€€ๅนผๅฐๅ…ๆœŸใซๅ‡็˜กๆง˜็šฎ็–นใซใฆ็™บ็—‡ใ—ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ‚„ๅ‘จๆœŸๆ€ง็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ—ใชใŒใ‚‰ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆœฌ้‚ฆ็‰นๆœ‰ใจใ•ใ‚ŒใŸใŒใ€2010ๅนดใซๆœฌ็–พๆ‚ฃใจ่‡จๅบŠ็š„ใซ้…ทไผผใ™ใ‚‹็—‡ไพ‹ใŒJMP็—‡ๅ€™็พคใƒปCANDLE ็—‡ๅ€™็พคใจใ„ใ†็—…ๅใงๆฌง็ฑณใƒปไธญๆฑใ‹ใ‚‰ๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚๏ผ“็–พๆ‚ฃใจใ‚‚ใ€ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ่ค‡ๅˆไฝ“ใฎ่ช˜ๅฐŽๅž‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹PSMB8้บไผๅญใซๅค‰็•ฐใฎใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใ‚Œใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅŒไธ€็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200867" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nakajo-Nishimura syndrome"@en, "ใชใ‹ใ˜ใ‚‡ใ†ใƒปใซใ—ใ‚€ใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Autoinflammation, lipodystrophy, and dermatosis syndrome"@en, "CANDLE syndrome"@en, "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome"@en, "JMP syndrome"@en, "Joint contractures, muscle atrophy, microcytic anemia, and panniculitis induced lipodystrophy"@en, "่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค"@ja, "้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0009726 ; skos:prefLabel "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค"@ja . -:1200868 - :hasNotificationNumber "269" ; - terms:description "PSTPIP1๏ผˆproline-serine-threonine phosphatase interacting protein 1๏ผˆCD2-binding protein 1๏ผšCD2BP1๏ผ‰๏ผ‰ใฎๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใง็™บ็—‡ใ—ใ€้€ฒ่กŒๆ€งใฎใณใ‚‰ใ‚“ๆ€ง้–ข็ฏ€็‚ŽๅŠใณใ€้›ฃๆฒปๆ€งใฎ็šฎ่†š็—‡็Šถ๏ผˆๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ๆง˜็—…ๅค‰ใ€ๅšข่ƒžๆ€งๅบง็˜ก๏ผ‰ใ‚’ไผดใ†ใ€‚"@ja ; - terms:identifier "1200868" ; - terms:source ; - a owl:Class ; - rdfs:label "Pyogenic Arthritis, Pyoderma Gangrenosum, Acne Syndrome"@en, "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "PAPA syndrome"@en, "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome"@en ; - skos:closeMatch mondo:MONDO_0011462, mondo:MONDO_0019673 ; + + nando:hasNotificationNumber "269" ; + dcterms:description "PSTPIP1๏ผˆproline-serine-threonine phosphatase interacting protein 1๏ผˆCD2-binding protein 1๏ผšCD2BP1๏ผ‰๏ผ‰ใฎๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนดใง็™บ็—‡ใ—ใ€้€ฒ่กŒๆ€งใฎใณใ‚‰ใ‚“ๆ€ง้–ข็ฏ€็‚ŽๅŠใณใ€้›ฃๆฒปๆ€งใฎ็šฎ่†š็—‡็Šถ๏ผˆๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ๆง˜็—…ๅค‰ใ€ๅšข่ƒžๆ€งๅบง็˜ก๏ผ‰ใ‚’ไผดใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:1200868" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pyogenic arthritis, pyoderma gangrenosum, acne syndrome"@en, "ใ‹ใฎใ†ใ›ใ„ใ‚€ใใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ใƒปใˆใใ›ใ„ใฎใ†ใฒใ—ใ‚‡ใ†ใƒปใ‚ใใญใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "PAPA syndrome"@en, "PAPA็—‡ๅ€™็พค"@ja, "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome"@en ; + skos:closeMatch obo:MONDO_0011462 ; skos:prefLabel "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค"@ja . -:1200869 - :hasNotificationNumber "270" ; - terms:description "ๅŽŸๅ› ไธๆ˜Žใชใ€็„ก่Œๆ€งใƒป้ž่…ซ็˜ๆ€งใฎ้ชจใƒป้ชจ้ซ„ใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅค‰ใฏๅ˜็™บๆ€งใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใซ็™บ็—‡ใ—ใ€ๆ€ฅๆ€งใƒปๆ…ขๆ€งใƒปๅ†็™บๆ€งใ„ใšใ‚Œใฎ็ตŒ้Žใ‚‚ใจใ‚Šๅพ—ใ‚‹ใŒใ€ใ“ใฎใ†ใกๅคš็™บๆ€งใซ็™บ็—‡ใ—ๆ…ขๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็—…ๆ…‹ใ‚’ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใจๅ‘ผใถใ€‚็—‡็Šถใจใ—ใฆ้ชจ็—›ๅŠใณใใฎ้ƒจไฝใซไธ€่‡ดใ—ใŸ็šฎ่†šใฎ็†ฑๆ„Ÿใจ็™บ่ตคใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200869" ; - terms:source ; - a owl:Class ; - rdfs:label "Chronic recurrent multifocal osteomyelitis"@en, "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009813 ; + + nando:hasNotificationNumber "270" ; + dcterms:description "ๅŽŸๅ› ไธๆ˜Žใชใ€็„ก่Œๆ€งใƒป้ž่…ซ็˜ๆ€งใฎ้ชจใƒป้ชจ้ซ„ใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…ๅค‰ใฏๅ˜็™บๆ€งใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใซ็™บ็—‡ใ—ใ€ๆ€ฅๆ€งใƒปๆ…ขๆ€งใƒปๅ†็™บๆ€งใ„ใšใ‚Œใฎ็ตŒ้Žใ‚‚ใจใ‚Šๅพ—ใ‚‹ใŒใ€ใ“ใฎใ†ใกๅคš็™บๆ€งใซ็™บ็—‡ใ—ๆ…ขๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็—…ๆ…‹ใ‚’ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใจๅ‘ผใถใ€‚็—‡็Šถใจใ—ใฆ้ชจ็—›ๅŠใณใใฎ้ƒจไฝใซไธ€่‡ดใ—ใŸ็šฎ่†šใฎ็†ฑๆ„Ÿใจ็™บ่ตคใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200869" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic recurrent multifocal osteomyelitis"@en, "ใพใ‚“ใ›ใ„ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใ›ใ„ใ“ใคใšใ„ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CRMO"@en, "CRMO"@ja ; + skos:closeMatch obo:MONDO_0009813 ; skos:prefLabel "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž"@ja . -:1200870 - :hasNotificationNumber "271" ; - terms:description "ไธปใซ่„ŠๆคŽใƒป้ชจ็›ค๏ผˆไป™่…ธ้–ข็ฏ€๏ผ‰ๅŠใณๅ››่‚ขใฎๅคง้–ข็ฏ€ใ‚’ไพตใ™ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใŒ30ๆญณๅ‰ใฎ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€้ ธ๏ฝž่ƒŒ๏ฝž่…ฐๆฎฟ้ƒจใ€่ƒธ้ƒจใ€ใ•ใ‚‰ใซใฏ่‚กใ€่†ใ€่‚ฉ้–ข็ฏ€ใชใฉๅ…จ่บซๅบƒ็ฏ„ๅ›ฒใซ็‚Ž็—‡ๆ€ง็–ผ็—›ใŒๆ‹กใŒใ‚Šใ€ๆฌก็ฌฌใซๅ„้ƒจไฝใฎๆ‹˜็ธฎ๏ผˆ้‹ๅ‹•ๅˆถ้™๏ผ‰ใ‚„ๅผท็›ด๏ผˆ้‹ๅ‹•ๆ€งๆถˆๅคฑ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่บซไฝ“็š„ใฎใฟใชใ‚‰ใšๅฟƒ็†็š„ใƒป็คพไผš็š„ใซใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ๆ‹›ใใ€็‰นใซ่‹ฅๅนด่€…ใงใฏๅฐฑๅญฆใƒปๅฐฑๅŠดใฎๅคงใใช้šœๅฃใจใชใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้ ธๆคŽใ‹ใ‚‰่…ฐๆคŽ๏ผˆ้ชจ็›ค๏ผ‰ใพใงๅ…จ่„ŠๆคŽใŒๅพŒๅผฏ๏ผˆๅ‰ๅฑˆ๏ผ‰ไฝใง้ชจๆ€งใซๅผท็›ดใ—ใฆ้‹ๅ‹•ๆ€งใŒๆถˆๅคฑใ—ใ€ๅ‰ๆ–นใ‚’ๆณจ่ฆ–ใงใใชใ„ใ€ไธŠๆ–นใ‚’่ฆ‹ไธŠใ’ใ‚‰ใ‚Œใชใ„ใ€ๅพŒใ‚ใ‚’ๆŒฏใ‚Šๅ‘ใ‘ใชใ„ใ€ๅ‘จๅ›ฒใ‚’่ฆ‹ๅ›žใ›ใชใ„ใ€้•ทๆ™‚้–“ๅŒใ˜ๅงฟๅ‹ข๏ผˆ็ซ‹ไฝใƒปๅบงไฝใƒป่‡ฅไฝ๏ผ‰ใ‚’็ถญๆŒใ™ใ‚‹ใฎใŒๅ›ฐ้›ฃใซใชใ‚‹ใชใฉใ€ๅคšๅฝฉใ‹ใค็‹ฌ็‰นใฎไฝ“ๅนนๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ•ใ‚‰ใซใฏใ€ใ“ใฎใ‚ˆใ†ใชๆ—ฅๅธธ็”ŸๆดปไธŠใฎไธไพฟใซใจใฉใพใ‚‰ใšใ€่„ŠๆคŽ้ชจๆŠ˜ใ‚„ใ“ใ‚Œใซไผดใ†่„Š้ซ„ๆๅ‚ท๏ผˆ้บป็—บ๏ผ‰ใชใฉๅค–ๅ‚ท็™บ็”Ÿใฎๅฑ้™บๆ€งใ‚‚้ซ˜ใพใ‚‹ใ€‚ใ€€้บไผ็š„่ƒŒๆ™ฏใซใ‚ˆใ‚Šใ€ๆˆ‘ใŒๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏๆฌง็ฑณใซๆฏ”ในๆฅตใ‚ใฆๅฐ‘ใชใใ€ๅŒปๅธซใฎ้–“ใงใ‚‚ๅๅˆ†ใซๅ‘จ็Ÿฅใ•ใ‚Œใฆใ„ใชใ„ใŸใ‚่จบๆ–ญใŒ้…ใ‚ŒใŒใกใจใชใ‚Šใ€ๅˆ็™บใ‹ใ‚‰่จบๆ–ญใพใงใซๅนณๅ‡9.3ๅนดใ‚’่ฆใ—ใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200870" ; - terms:source ; + + nando:hasNotificationNumber "271" ; + dcterms:description "ไธปใซ่„ŠๆคŽใƒป้ชจ็›ค๏ผˆไป™่…ธ้–ข็ฏ€๏ผ‰ๅŠใณๅ››่‚ขใฎๅคง้–ข็ฏ€ใ‚’ไพตใ™ๆ…ขๆ€ง้€ฒ่กŒๆ€งใฎ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใŒ30ๆญณๅ‰ใฎ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€้ ธ๏ฝž่ƒŒ๏ฝž่…ฐๆฎฟ้ƒจใ€่ƒธ้ƒจใ€ใ•ใ‚‰ใซใฏ่‚กใ€่†ใ€่‚ฉ้–ข็ฏ€ใชใฉๅ…จ่บซๅบƒ็ฏ„ๅ›ฒใซ็‚Ž็—‡ๆ€ง็–ผ็—›ใŒๆ‹กใŒใ‚Šใ€ๆฌก็ฌฌใซๅ„้ƒจไฝใฎๆ‹˜็ธฎ๏ผˆ้‹ๅ‹•ๅˆถ้™๏ผ‰ใ‚„ๅผท็›ด๏ผˆ้‹ๅ‹•ๆ€งๆถˆๅคฑ๏ผ‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่บซไฝ“็š„ใฎใฟใชใ‚‰ใšๅฟƒ็†็š„ใƒป็คพไผš็š„ใซใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ๆ‹›ใใ€็‰นใซ่‹ฅๅนด่€…ใงใฏๅฐฑๅญฆใƒปๅฐฑๅŠดใฎๅคงใใช้šœๅฃใจใชใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้ ธๆคŽใ‹ใ‚‰่…ฐๆคŽ๏ผˆ้ชจ็›ค๏ผ‰ใพใงๅ…จ่„ŠๆคŽใŒๅพŒๅผฏ๏ผˆๅ‰ๅฑˆ๏ผ‰ไฝใง้ชจๆ€งใซๅผท็›ดใ—ใฆ้‹ๅ‹•ๆ€งใŒๆถˆๅคฑใ—ใ€ๅ‰ๆ–นใ‚’ๆณจ่ฆ–ใงใใชใ„ใ€ไธŠๆ–นใ‚’่ฆ‹ไธŠใ’ใ‚‰ใ‚Œใชใ„ใ€ๅพŒใ‚ใ‚’ๆŒฏใ‚Šๅ‘ใ‘ใชใ„ใ€ๅ‘จๅ›ฒใ‚’่ฆ‹ๅ›žใ›ใชใ„ใ€้•ทๆ™‚้–“ๅŒใ˜ๅงฟๅ‹ข๏ผˆ็ซ‹ไฝใƒปๅบงไฝใƒป่‡ฅไฝ๏ผ‰ใ‚’็ถญๆŒใ™ใ‚‹ใฎใŒๅ›ฐ้›ฃใซใชใ‚‹ใชใฉใ€ๅคšๅฝฉใ‹ใค็‹ฌ็‰นใฎไฝ“ๅนนๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ•ใ‚‰ใซใฏใ€ใ“ใฎใ‚ˆใ†ใชๆ—ฅๅธธ็”ŸๆดปไธŠใฎไธไพฟใซใจใฉใพใ‚‰ใšใ€่„ŠๆคŽ้ชจๆŠ˜ใ‚„ใ“ใ‚Œใซไผดใ†่„Š้ซ„ๆๅ‚ท๏ผˆ้บป็—บ๏ผ‰ใชใฉๅค–ๅ‚ท็™บ็”Ÿใฎๅฑ้™บๆ€งใ‚‚้ซ˜ใพใ‚‹ใ€‚ใ€€้บไผ็š„่ƒŒๆ™ฏใซใ‚ˆใ‚Šใ€ๆˆ‘ใŒๅ›ฝใฎๆ‚ฃ่€…ๆ•ฐใฏๆฌง็ฑณใซๆฏ”ในๆฅตใ‚ใฆๅฐ‘ใชใใ€ๅŒปๅธซใฎ้–“ใงใ‚‚ๅๅˆ†ใซๅ‘จ็Ÿฅใ•ใ‚Œใฆใ„ใชใ„ใŸใ‚่จบๆ–ญใŒ้…ใ‚ŒใŒใกใจใชใ‚Šใ€ๅˆ็™บใ‹ใ‚‰่จบๆ–ญใพใงใซๅนณๅ‡9.3ๅนดใ‚’่ฆใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200870" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ankylosing spondylitis"@en, "ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Ankylosing spondylitis"@en, "ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ›ใใคใ„ใˆใ‚“"@ja-Hira, "ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Spondylarthritis ankylopoietica"@en ; - skos:closeMatch mondo:MONDO_0005306 ; + skos:closeMatch obo:MONDO_0005306 ; skos:prefLabel "ๅผท็›ดๆ€ง่„ŠๆคŽ็‚Ž"@ja . -:1200871 - :hasNotificationNumber "272" ; - terms:description "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆFibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๆฏ่ถพๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆœ‰็—…็Ž‡ใฏ200ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200871" ; - terms:source ; - a owl:Class ; - rdfs:label "Fibrodysplasia ossificans progressiva"@en, "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003964, mondo:MONDO_0007606 ; + + nando:hasNotificationNumber "272" ; + dcterms:description "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆFibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๆฏ่ถพๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆœ‰็—…็Ž‡ใฏ200ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200871" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fibrodysplasia ossificans progressiva"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ“ใฃใ‹ใ›ใ„ใ›ใ‚“ใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "FOP"@en, "FOP"@ja ; + skos:closeMatch obo:MONDO_0003964, obo:MONDO_0007606 ; skos:prefLabel "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡"@ja . -:1200872 - :hasNotificationNumber "273" ; - terms:description "ๅฐๅ…ใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅดๅผฏ็—‡ใฏใใฎๅŽŸๅ› ใ‚‚ๆง˜ใ€…ใงใ€ใใฎๆ…‹ๆง˜ใ‚‚ๅ€‹ใ€…ใฎๆ‚ฃ่€…ใ”ใจใงๅคงๅค‰ๅคงใใชๅทฎใŒใ‚ใ‚‹ใ€‚ๆˆ้•ทๆœŸใ€็‰นใซๆ€ๆ˜ฅๆœŸใซๆ‚ชๅŒ–ใ—ใ‚„ใ™ใ„ใŒใ€่„ŠๆŸฑๅค‰ๅฝขใฎๆ‚ชๅŒ–ใŒๅฐ‘ใชใ„ใ‚‚ใฎใฏไบˆๅพŒใ‚‚่‰ฏใQOL๏ผˆ็”Ÿๆดปใฎ่ณช๏ผ‰ใฎ่ฆณ็‚นใ‹ใ‚‰ใ‚‚ๅคงใใชๅ•้กŒใซใฏใชใ‚‰ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅค‰ๅฝขใฎไธญใซใฏใใฎๅค‰ๅฝขๆ‚ชๅŒ–ใŒ่‘—ใ—ใ„็—‡ไพ‹ใŒๅฐ‘ใชใ‹ใ‚‰ใšใ‚ใ‚Šใ€ใใ‚Œใซไผดใ„่ƒธ้ƒญๅค‰ๅฝขใ‚‚้ซ˜ๅบฆใซใชใ‚Šใ€่ƒธ้ƒญๅฎน้‡ใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š่‚บๆˆ้•ทใŒ้˜ปๅฎณใ•ใ‚Œๅ‘ผๅธๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๆ‚ฃ่€…ใซใ‚ˆใฃใฆใฏๆˆ้•ทใซไผดใ„ใ•ใ‚‰ใซๆ‚ชๅŒ–ใ—ใฆใ€ๆœ€็ต‚็š„ใซใฏๆ‹˜ๆŸๆ€งๆ›ๆฐ—้šœๅฎณใ€้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณใชใฉใฎ็—…ๆ…‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใฎ็Šถๆ…‹ใจใชใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซ่„ŠๆŸฑๅค‰ๅฝขใชใฉ็จฎใ€…ใฎๅŽŸๅ› ใงๅฐๅ…ๆˆ้•ทๆœŸใซ้ซ˜ๅบฆ่ƒธ้ƒญๅค‰ๅฝขใŒ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใงใฏใ€็ตๆžœใจใ—ใฆๆญฃๅธธใช่‚บใฎๆˆ้•ทใ‚„ใใฎๅ‘ผๅธๆฉŸ่ƒฝใ‚’ใ‚ตใƒใƒผใƒˆใงใใชใ„็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใใฎๆฒป็™‚ใจใ—ใฆVEPTR๏ผˆVertical Expandable Prosthetic Titanium Rib๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ไบบๅทฅ่‚‹้ชจใŒ้–‹็™บใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎไธญใงใ€็‰นใซไธ€ๆฌกๆ€งใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆคŽ้ชจใจ่‚‹้ชจใฎไธกๆ–นใฎ็™บ็”Ÿๅญฆ็š„็•ฐๅธธใซใ‚ˆใ‚Šๅฝขๆ…‹็š„ๅค‰ๅŒ–ใ‚’ๆฅใ—่„ŠๆŸฑๅค‰ๅฝขใฎใฟใชใ‚‰ใš่ƒธ้ƒญๅค‰ๅฝขใจใใ‚Œใ‚‰ใฎๆˆ้•ท้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆœ€็ต‚็š„ใซใฏๅ‘ผๅธๅ™จ็ณปใฎ้šœๅฎณใ‹ใ‚‰็”Ÿๅ‘ฝใซใ‚‚้‡ๅคงใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎ่‡ช็„ถ็ตŒ้Žใ‚„็—…ๆ…‹ใซใฏๆœชใ ๆœช่งฃๆ˜Žใชใ‚‚ใฎใŒๅคšใ€…ใ‚ใ‚‹ใŒใ€VEPTRใ‚’ไปฃ่กจใจใ—ใŸๆˆ้•ทๆธฉๅญ˜ๆ‰‹่ก“ๆฒป็™‚ใฏใ€ๆœฌ็–พๆ‚ฃใซ็ฝนๆ‚ฃใ—ใŸๅฐๅ…ๆ‚ฃ่€…ใฎๆˆ้•ทๅพŒใฎ็”Ÿๆดปใ‚’ๆ”นๅ–„ใ•ใ›ใ‚‹ใฎใฟใชใ‚‰ใšใ€็”Ÿๅ‘ฝไบˆๅพŒใ‚‚ๆ”นๅ–„ใ•ใ›ใ‚‹ใ“ใจใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200872" ; - terms:source ; + + nando:hasNotificationNumber "273" ; + dcterms:description "ๅฐๅ…ใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅดๅผฏ็—‡ใฏใใฎๅŽŸๅ› ใ‚‚ๆง˜ใ€…ใงใ€ใใฎๆ…‹ๆง˜ใ‚‚ๅ€‹ใ€…ใฎๆ‚ฃ่€…ใ”ใจใงๅคงๅค‰ๅคงใใชๅทฎใŒใ‚ใ‚‹ใ€‚ๆˆ้•ทๆœŸใ€็‰นใซๆ€ๆ˜ฅๆœŸใซๆ‚ชๅŒ–ใ—ใ‚„ใ™ใ„ใŒใ€่„ŠๆŸฑๅค‰ๅฝขใฎๆ‚ชๅŒ–ใŒๅฐ‘ใชใ„ใ‚‚ใฎใฏไบˆๅพŒใ‚‚่‰ฏใQOL๏ผˆ็”Ÿๆดปใฎ่ณช๏ผ‰ใฎ่ฆณ็‚นใ‹ใ‚‰ใ‚‚ๅคงใใชๅ•้กŒใซใฏใชใ‚‰ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹่„ŠๆŸฑๅค‰ๅฝขใฎไธญใซใฏใใฎๅค‰ๅฝขๆ‚ชๅŒ–ใŒ่‘—ใ—ใ„็—‡ไพ‹ใŒๅฐ‘ใชใ‹ใ‚‰ใšใ‚ใ‚Šใ€ใใ‚Œใซไผดใ„่ƒธ้ƒญๅค‰ๅฝขใ‚‚้ซ˜ๅบฆใซใชใ‚Šใ€่ƒธ้ƒญๅฎน้‡ใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š่‚บๆˆ้•ทใŒ้˜ปๅฎณใ•ใ‚Œๅ‘ผๅธๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ๆฅใ™ใ€‚ๆ‚ฃ่€…ใซใ‚ˆใฃใฆใฏๆˆ้•ทใซไผดใ„ใ•ใ‚‰ใซๆ‚ชๅŒ–ใ—ใฆใ€ๆœ€็ต‚็š„ใซใฏๆ‹˜ๆŸๆ€งๆ›ๆฐ—้šœๅฎณใ€้–‰ๅกžๆ€งๆ›ๆฐ—้šœๅฎณใชใฉใฎ็—…ๆ…‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใฎ็Šถๆ…‹ใจใชใ‚‹็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซ่„ŠๆŸฑๅค‰ๅฝขใชใฉ็จฎใ€…ใฎๅŽŸๅ› ใงๅฐๅ…ๆˆ้•ทๆœŸใซ้ซ˜ๅบฆ่ƒธ้ƒญๅค‰ๅฝขใŒ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใงใฏใ€็ตๆžœใจใ—ใฆๆญฃๅธธใช่‚บใฎๆˆ้•ทใ‚„ใใฎๅ‘ผๅธๆฉŸ่ƒฝใ‚’ใ‚ตใƒใƒผใƒˆใงใใชใ„็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใใฎๆฒป็™‚ใจใ—ใฆVEPTR๏ผˆVertical Expandable Prosthetic Titanium Rib๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ไบบๅทฅ่‚‹้ชจใŒ้–‹็™บใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎไธญใงใ€็‰นใซไธ€ๆฌกๆ€งใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆคŽ้ชจใจ่‚‹้ชจใฎไธกๆ–นใฎ็™บ็”Ÿๅญฆ็š„็•ฐๅธธใซใ‚ˆใ‚Šๅฝขๆ…‹็š„ๅค‰ๅŒ–ใ‚’ๆฅใ—่„ŠๆŸฑๅค‰ๅฝขใฎใฟใชใ‚‰ใš่ƒธ้ƒญๅค‰ๅฝขใจใใ‚Œใ‚‰ใฎๆˆ้•ท้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๆœ€็ต‚็š„ใซใฏๅ‘ผๅธๅ™จ็ณปใฎ้šœๅฎณใ‹ใ‚‰็”Ÿๅ‘ฝใซใ‚‚้‡ๅคงใชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎ่‡ช็„ถ็ตŒ้Žใ‚„็—…ๆ…‹ใซใฏๆœชใ ๆœช่งฃๆ˜Žใชใ‚‚ใฎใŒๅคšใ€…ใ‚ใ‚‹ใŒใ€VEPTRใ‚’ไปฃ่กจใจใ—ใŸๆˆ้•ทๆธฉๅญ˜ๆ‰‹่ก“ๆฒป็™‚ใฏใ€ๆœฌ็–พๆ‚ฃใซ็ฝนๆ‚ฃใ—ใŸๅฐๅ…ๆ‚ฃ่€…ใฎๆˆ้•ทๅพŒใฎ็”Ÿๆดปใ‚’ๆ”นๅ–„ใ•ใ›ใ‚‹ใฎใฟใชใ‚‰ใšใ€็”Ÿๅ‘ฝไบˆๅพŒใ‚‚ๆ”นๅ–„ใ•ใ›ใ‚‹ใ“ใจใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200872" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital Scoliosis with Rib Anomalies"@en, "่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Congenital scoliosis with rib anomalies"@en, "ใ‚ใฃใ“ใคใ„ใ˜ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ›ใ‚“ใฆใ„ใ›ใ„ใใใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Congenital scoliosis with rib anomaly"@en ; skos:prefLabel "่‚‹้ชจ็•ฐๅธธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅดๅผฏ็—‡"@ja . -:1200873 - :hasNotificationNumber "274" ; - terms:description "้ชจๅฝขๆˆไธๅ…จ็—‡๏ผˆOsteogenesis imperfecta๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจ่„†ๅผฑๆ€งใซใ‚ˆใ‚‹ๆ˜“้ชจๆŠ˜ๆ€งใ‚„้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใซๅŠ ใˆใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ็ด„๏ผ’๏ฝž๏ผ“ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2010ๅนด็‰ˆใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃๅ›ฝ้š›ๅˆ†้กžใงใฏใ€Sillenceใซใ‚ˆใ‚‹๏ผ‘ๅž‹๏ผˆ้žๅค‰ๅฝขๅž‹๏ผ‰ใ€๏ผ’ๅž‹๏ผˆๅ‘จ็”ฃๆœŸ่‡ดๆญปๅž‹๏ผ‰ใ€๏ผ“ๅž‹๏ผˆๅค‰ๅฝข้€ฒ่กŒๅž‹๏ผ‰ใ€๏ผ”ๅž‹๏ผˆไธญ็ญ‰็—‡ๅž‹๏ผ‰ใซๅŠ ใˆใฆใ€้ชจ้–“่†œ็Ÿณ็ฐๅŒ–ใƒป้Žๅฝขๆˆไปฎ้ชจใ‚’ไผดใ†ๅž‹๏ผˆ๏ผ•ๅž‹๏ผ‰ใ€ใใฎไป–ใฎๅž‹ใ€ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200873" ; - terms:source ; + + nando:hasNotificationNumber "274" ; + dcterms:description "้ชจๅฝขๆˆไธๅ…จ็—‡๏ผˆOsteogenesis imperfecta๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจ่„†ๅผฑๆ€งใซใ‚ˆใ‚‹ๆ˜“้ชจๆŠ˜ๆ€งใ‚„้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใซๅŠ ใˆใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ็ด„๏ผ’๏ฝž๏ผ“ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2010ๅนด็‰ˆใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃๅ›ฝ้š›ๅˆ†้กžใงใฏใ€Sillenceใซใ‚ˆใ‚‹๏ผ‘ๅž‹๏ผˆ้žๅค‰ๅฝขๅž‹๏ผ‰ใ€๏ผ’ๅž‹๏ผˆๅ‘จ็”ฃๆœŸ่‡ดๆญปๅž‹๏ผ‰ใ€๏ผ“ๅž‹๏ผˆๅค‰ๅฝข้€ฒ่กŒๅž‹๏ผ‰ใ€๏ผ”ๅž‹๏ผˆไธญ็ญ‰็—‡ๅž‹๏ผ‰ใซๅŠ ใˆใฆใ€้ชจ้–“่†œ็Ÿณ็ฐๅŒ–ใƒป้Žๅฝขๆˆไปฎ้ชจใ‚’ไผดใ†ๅž‹๏ผˆ๏ผ•ๅž‹๏ผ‰ใ€ใใฎไป–ใฎๅž‹ใ€ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200873" ; + dcterms:source ; a owl:Class ; - rdfs:label "Osteogenesis Imperfecta"@en, "้ชจๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013515, mondo:MONDO_0019019 ; + rdfs:label "Osteogenesis imperfecta"@en, "ใ“ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ชจๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019019 ; skos:prefLabel "้ชจๅฝขๆˆไธๅ…จ็—‡"@ja . -:1200874 - :hasNotificationNumber "275" ; - terms:description "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ ๏ผˆthanatophoric dysplasia๏ผ‰ใฏ1967ๅนดใซMaroteauxใ‚‰ใŒ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ—ใŸใ€‚โ€thanatophoricโ€ใจใฏdeath bearingใ€€๏ผˆ่‡ดๆญปๆ€ง๏ผ‰ใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚ฎใƒชใ‚ทใƒฃ่ชžใงใ‚ใ‚‹ใ€‚ไธปใช็‰นๅพดใฏ้•ท็ฎก้ชจ๏ผˆ็‰นใซไธŠ่…•้ชจใจๅคง่…ฟ้ชจ๏ผ‰ใฎ่‘—ๆ˜Žใช็Ÿญ็ธฎใงใ‚ใ‚‹ใ€‚็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญๅ—ๅฎนไฝ“๏ผ“้บไผๅญใฎ็‚น็ช็„ถๅค‰็•ฐใŒๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ใใฎX็ทšๆ‰€่ฆ‹ใ‹ใ‚‰ๅคง่…ฟ้ชจใŒๅฝŽๆ›ฒ๏ผˆๅ—่ฉฑๅ™จ็”จๅค‰ๅฝข๏ผ‰ใ—ใ€้ ญ่“‹้ชจใฎๅค‰ๅฝขใฎใชใ„๏ผ‘ๅž‹ใจใ€ๅคง่…ฟ้ชจใฎๅฝŽๆ›ฒใฏๅฐ‘ใชใใ€้ ญ่“‹้ชจใŒใ‚ฏใƒญใƒผใƒใƒผ่‘‰ๆง˜ใซๅค‰ๅฝขใ—ใŸ๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚ŒใซใŠใ„ใฆใ‚‚่‚‹้ชจใฎ็Ÿญ็ธฎใซใ‚ˆใ‚‹่ƒธ้ƒญไฝŽๅฝขๆˆใงใ€ใƒ™ใƒซ็Šถ่ƒธ้ƒญใจใชใ‚Šใ€้‡ๅบฆใฎๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ใพใŸๅทจๅคง้ ญ่“‹ใจๅ‰้ ญ้ƒจ็ชๅ‡บใ‚’็คบใ—ใ€้ก”้ขใฏๆฏ”่ผƒ็š„ไฝŽๅฝขๆˆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200874" ; - terms:source ; - a owl:Class ; - rdfs:label "Thanatophoric dysplasia"@en, "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008546, mondo:MONDO_0017042 ; + + nando:hasNotificationNumber "275" ; + dcterms:description "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡ ๏ผˆthanatophoric dysplasia๏ผ‰ใฏ1967ๅนดใซMaroteauxใ‚‰ใŒ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅ ฑๅ‘Šใ—ใŸใ€‚โ€thanatophoricโ€ใจใฏdeath bearingใ€€๏ผˆ่‡ดๆญปๆ€ง๏ผ‰ใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ‚ฎใƒชใ‚ทใƒฃ่ชžใงใ‚ใ‚‹ใ€‚ไธปใช็‰นๅพดใฏ้•ท็ฎก้ชจ๏ผˆ็‰นใซไธŠ่…•้ชจใจๅคง่…ฟ้ชจ๏ผ‰ใฎ่‘—ๆ˜Žใช็Ÿญ็ธฎใงใ‚ใ‚‹ใ€‚็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญๅ—ๅฎนไฝ“๏ผ“้บไผๅญใฎ็‚น็ช็„ถๅค‰็•ฐใŒๅŽŸๅ› ใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ใใฎX็ทšๆ‰€่ฆ‹ใ‹ใ‚‰ๅคง่…ฟ้ชจใŒๅฝŽๆ›ฒ๏ผˆๅ—่ฉฑๅ™จ็”จๅค‰ๅฝข๏ผ‰ใ—ใ€้ ญ่“‹้ชจใฎๅค‰ๅฝขใฎใชใ„๏ผ‘ๅž‹ใจใ€ๅคง่…ฟ้ชจใฎๅฝŽๆ›ฒใฏๅฐ‘ใชใใ€้ ญ่“‹้ชจใŒใ‚ฏใƒญใƒผใƒใƒผ่‘‰ๆง˜ใซๅค‰ๅฝขใ—ใŸ๏ผ’ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚ŒใซใŠใ„ใฆใ‚‚่‚‹้ชจใฎ็Ÿญ็ธฎใซใ‚ˆใ‚‹่ƒธ้ƒญไฝŽๅฝขๆˆใงใ€ใƒ™ใƒซ็Šถ่ƒธ้ƒญใจใชใ‚Šใ€้‡ๅบฆใฎๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ™ใ€‚ใพใŸๅทจๅคง้ ญ่“‹ใจๅ‰้ ญ้ƒจ็ชๅ‡บใ‚’็คบใ—ใ€้ก”้ขใฏๆฏ”่ผƒ็š„ไฝŽๅฝขๆˆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200874" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Thanatophoric dysplasia"@en, "ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "TD"@en ; + skos:closeMatch obo:MONDO_0017042 ; skos:prefLabel "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡"@ja . -:1200875 - :hasNotificationNumber "275" ; - terms:identifier "1200875" ; - terms:source ; + + nando:hasNotificationNumber "275" ; + dcterms:identifier "NANDO:1200875" ; + dcterms:source ; a owl:Class ; - rdfs:label "Thanatophoric dysplasia type 1"@en, "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008546 ; + rdfs:label "Thanatophoric dysplasia type 1"@en, "ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "TD1"@en ; + skos:closeMatch obo:MONDO_0008546 ; skos:prefLabel "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ‘ๅž‹"@ja . -:1200876 - :hasNotificationNumber "275" ; - terms:identifier "1200876" ; - terms:source ; + + nando:hasNotificationNumber "275" ; + dcterms:identifier "NANDO:1200876" ; + dcterms:source ; a owl:Class ; - rdfs:label "Thanatophoric dysplasia type 2"@en, "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008547 ; + rdfs:label "Thanatophoric dysplasia type 2"@en, "ใŸใชใจใตใ‰ใ‚Šใฃใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "TD2"@en ; + skos:closeMatch obo:MONDO_0008547 ; skos:prefLabel "ใ‚ฟใƒŠใƒˆใƒ•ใ‚ฉใƒชใƒƒใ‚ฏ้ชจ็•ฐๅฝขๆˆ็—‡๏ผ’ๅž‹"@ja . -:1200877 - :hasNotificationNumber "276" ; - terms:description "่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ท็—‡ใ‚’ๅ‘ˆใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใฎไปฃ่กจใงใ€ใŠใ‚ˆใ๏ผ’ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใง็™บ็”Ÿใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจX็ทšๅƒใ‹ใ‚‰่จบๆ–ญใฏๅฎนๆ˜“ใงใ‚ใ‚‹ใŒๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆˆไบบ่บซ้•ทใฏ็”ทๆ€งใง็ด„130cmใ€ๅฅณๆ€งใง็ด„125cmใจไฝŽใ่‘—ๆ˜Žใชๅ››่‚ข็Ÿญ็ธฎใฎใŸใ‚ใ€ๆ‚ฃ่€…ใฏๆ—ฅๅธธ็”Ÿๆดปใงๆง˜ใ€…ใชๅˆถ็ด„ใ‚’ใ†ใ‘ใ‚‹ใ€‚่„ŠๆŸฑ็ฎก็‹ญ็ช„ใฎใŸใ‚ไธญ้ซ˜ๅนดใซใชใ‚‹ใจไธกไธ‹่‚ข้บป็—บใ‚’ๅ‘ˆใ—ใŸใ‚Šใ€ไธ‹่‚ขใ‚ขใƒฉใ‚คใƒกใƒณใƒˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’็™บ็—‡ใ—ๆญฉ่กŒ้šœๅฎณใ‚’็”Ÿใ˜ใŸใ‚Šใ™ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚"@ja ; - terms:identifier "1200877" ; - terms:source ; + + nando:hasNotificationNumber "276" ; + dcterms:description "่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ท็—‡ใ‚’ๅ‘ˆใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใฎไปฃ่กจใงใ€ใŠใ‚ˆใ๏ผ’ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใฎๅ‰ฒๅˆใง็™บ็”Ÿใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจX็ทšๅƒใ‹ใ‚‰่จบๆ–ญใฏๅฎนๆ˜“ใงใ‚ใ‚‹ใŒๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆˆไบบ่บซ้•ทใฏ็”ทๆ€งใง็ด„130cmใ€ๅฅณๆ€งใง็ด„125cmใจไฝŽใ่‘—ๆ˜Žใชๅ››่‚ข็Ÿญ็ธฎใฎใŸใ‚ใ€ๆ‚ฃ่€…ใฏๆ—ฅๅธธ็”Ÿๆดปใงๆง˜ใ€…ใชๅˆถ็ด„ใ‚’ใ†ใ‘ใ‚‹ใ€‚่„ŠๆŸฑ็ฎก็‹ญ็ช„ใฎใŸใ‚ไธญ้ซ˜ๅนดใซใชใ‚‹ใจไธกไธ‹่‚ข้บป็—บใ‚’ๅ‘ˆใ—ใŸใ‚Šใ€ไธ‹่‚ขใ‚ขใƒฉใ‚คใƒกใƒณใƒˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’็™บ็—‡ใ—ๆญฉ่กŒ้šœๅฎณใ‚’็”Ÿใ˜ใŸใ‚Šใ™ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200877" ; + dcterms:source ; a owl:Class ; - rdfs:label "Achondroplasia"@en, "่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007037 ; + rdfs:label "Achondroplasia"@en, "ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007037 ; skos:prefLabel "่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja . -:1200878 - :hasNotificationNumber "277" ; - terms:description "ไธญๆžข็ฅž็ตŒ็ณปใ‚’้™คใใ€้ชจใ‚„่ƒธ้ƒจ๏ผˆ่‚บใ€็ธฆ้š”ใ€ๅฟƒ่‡“๏ผ‰ใ€่…น้ƒจ๏ผˆ่…น่…”ๅ†…ใ€่„พ่‡“๏ผ‰ใ€็šฎ่†šใ€็šฎไธ‹็ต„็น”ใชใฉๅ…จ่บซ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซ็•ฐๅธธใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎก็ต„็น”ใŒๆตธๆฝคใ™ใ‚‹ๅŽŸๅ› ไธๆ˜ŽใฎๅธŒๅฐ‘ๆ€ง้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใ€่‹ฅๅนด่€…ใซๅคšใ็™บ็—‡ใ™ใ‚‹ใŒๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใ‚„ไบˆๅพŒใฏๆง˜ใ€…ใงใ‚ใ‚‹ใŒใ€่ƒธ้ƒจใซ็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚้ชจๆบถ่งฃใ‚’่ตทใ“ใ™ใ‚ดใƒผใƒใƒ ็—…ใ‚‚ใ€้ชจ็—…ๅค‰ใ ใ‘ใงใชใๅŒๆง˜ใฎๅ†…่‡“็—…ๅค‰ใ‚’ๆŒใคๅ ดๅˆใŒใ‚ใ‚‹ใŸใ‚ใ€้กž็ธ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๆ™‚็‚นใงใฏ๏ผ‘ใคใฎ็–พๆ‚ฃใจใ—ใฆใจใ‚‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏไธ่ฆๅ‰‡ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใŒใ€ๅ†…็šฎ็ดฐ่ƒžใฎMIB-1ใฏ้™ฐๆ€งใง่…ซ็˜ๆ€งใฎๅข—ๆฎ–ใฏ็„กใ„ใ€‚ใพใŸ้‘‘ๅˆฅไธŠๅ•้กŒใจใชใ‚‹ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใใ€ไธ€ๆ–นใงใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏๅคš็™บๆ€งใƒปใณใพใ‚“ๆ€ง๏ผˆๅคš่‡“ๅ™จใซๅŠใถใ€ใƒชใƒณใƒ‘ๆถฒ่ฒฏ็•™ใ‚„ๅ‘จๅ›ฒใฎ็ต„็น”ใซๆตธๆฝคๅ‚พๅ‘ใŒใ‚ใ‚‹ใชใฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใชใŠใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผใ‚ดใƒผใƒใƒ ็—…ใฏใ€ใณใพใ‚“ๆ€งใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใ€ใ‚ดใƒผใƒใƒ ใƒปใ‚นใ‚ฟใ‚ฆใƒˆ็—‡ๅ€™็พคใ€ๅคง้‡้ชจๆบถ่งฃ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200878" ; - terms:source ; + + nando:hasNotificationNumber "277" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็ณปใ‚’้™คใใ€้ชจใ‚„่ƒธ้ƒจ๏ผˆ่‚บใ€็ธฆ้š”ใ€ๅฟƒ่‡“๏ผ‰ใ€่…น้ƒจ๏ผˆ่…น่…”ๅ†…ใ€่„พ่‡“๏ผ‰ใ€็šฎ่†šใ€็šฎไธ‹็ต„็น”ใชใฉๅ…จ่บซ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซ็•ฐๅธธใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎก็ต„็น”ใŒๆตธๆฝคใ™ใ‚‹ๅŽŸๅ› ไธๆ˜ŽใฎๅธŒๅฐ‘ๆ€ง้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใ€่‹ฅๅนด่€…ใซๅคšใ็™บ็—‡ใ™ใ‚‹ใŒๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใ‚„ไบˆๅพŒใฏๆง˜ใ€…ใงใ‚ใ‚‹ใŒใ€่ƒธ้ƒจใซ็—…ๅค‰ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚้ชจๆบถ่งฃใ‚’่ตทใ“ใ™ใ‚ดใƒผใƒใƒ ็—…ใ‚‚ใ€้ชจ็—…ๅค‰ใ ใ‘ใงใชใๅŒๆง˜ใฎๅ†…่‡“็—…ๅค‰ใ‚’ๆŒใคๅ ดๅˆใŒใ‚ใ‚‹ใŸใ‚ใ€้กž็ธ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๆ™‚็‚นใงใฏ๏ผ‘ใคใฎ็–พๆ‚ฃใจใ—ใฆใจใ‚‰ใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏไธ่ฆๅ‰‡ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใŒใ€ๅ†…็šฎ็ดฐ่ƒžใฎMIB-1ใฏ้™ฐๆ€งใง่…ซ็˜ๆ€งใฎๅข—ๆฎ–ใฏ็„กใ„ใ€‚ใพใŸ้‘‘ๅˆฅไธŠๅ•้กŒใจใชใ‚‹ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใใ€ไธ€ๆ–นใงใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏๅคš็™บๆ€งใƒปใณใพใ‚“ๆ€ง๏ผˆๅคš่‡“ๅ™จใซๅŠใถใ€ใƒชใƒณใƒ‘ๆถฒ่ฒฏ็•™ใ‚„ๅ‘จๅ›ฒใฎ็ต„็น”ใซๆตธๆฝคๅ‚พๅ‘ใŒใ‚ใ‚‹ใชใฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใชใŠใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผใ‚ดใƒผใƒใƒ ็—…ใฏใ€ใณใพใ‚“ๆ€งใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใ€ใ‚ดใƒผใƒใƒ ใƒปใ‚นใ‚ฟใ‚ฆใƒˆ็—‡ๅ€™็พคใ€ๅคง้‡้ชจๆบถ่งฃ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200878" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lymphangiomatosis / Gorham-Stout Disease"@en, "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Lymphangiomatosis / Gorham-Stout disease"@en, "ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†๏ผใ”ใƒผใฏใ‚€ใณใ‚‡ใ†"@ja-Hira, "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Lymphangiomatosis/Gorham disease"@en ; + skos:closeMatch obo:MONDO_0003157, obo:MONDO_0007414 ; skos:prefLabel "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡/ใ‚ดใƒผใƒใƒ ็—…"@ja . -:1200879 - :hasNotificationNumber "277" ; - terms:identifier "1200879" ; - terms:source ; + + dcterms:identifier "NANDO:1200879" ; a owl:Class ; - rdfs:label "Lymphangiomatosis"@en, "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "obsolete Lymphangiomatosis"@en, "obsolete ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "obsolete ใƒชใƒณใƒ‘็ฎก่…ซ็—‡"@ja ; + rdfs:subClassOf ; + rdfs:subClassof ; + owl:deprecated true ; skos:altLabel "Generalized lymphatic anomaly"@en ; - skos:closeMatch mondo:MONDO_0015408 ; - skos:prefLabel "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡"@ja . + skos:prefLabel "obsolete ใƒชใƒณใƒ‘็ฎก่…ซ็—‡"@ja . -:1200880 - :hasNotificationNumber "277" ; - terms:identifier "1200880" ; - terms:source ; + + dcterms:identifier "NANDO:1200880" ; a owl:Class ; - rdfs:label "Gorham disease"@en, "ใ‚ดใƒผใƒใƒ ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "obsolete Gorham disease"@en, "obsolete ใ”ใƒผใฏใ‚€ใณใ‚‡ใ†"@ja-Hira, "obsolete ใ‚ดใƒผใƒใƒ ็—…"@ja ; + rdfs:subClassOf ; + rdfs:subClassof ; + owl:deprecated true ; skos:altLabel "Gorham-Stout disease"@en ; - skos:closeMatch mondo:MONDO_0003157, mondo:MONDO_0007414 ; - skos:prefLabel "ใ‚ดใƒผใƒใƒ ็—…"@ja . - -:1200881 - :hasNotificationNumber "278" ; - terms:description "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ใฏ้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจใซๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎใƒชใƒณใƒ‘็ฎกๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€ใ‚ดใƒผใƒใƒ ็—…๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผ‰ใจใฏ็•ฐใชใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธญๅฟƒใซๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜คๆ€ง็—…ๅค‰ใงใ€ๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใ„ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญใƒปๆฒป็™‚ใซๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็‰นใซ็—…ๅค‰ใŒๅคงใใๅบƒ็ฏ„ๅ›ฒใซๅบƒใŒใ‚‹ใ‚‚ใฎใฏ้›ฃๆฒปๆ€งใงใ€ๆฉŸ่ƒฝ้ขใฎใฟใชใ‚‰ใšๆ•ดๅฎน้ขใ‹ใ‚‰ใ‚‚ๆ‚ฃ่€…ใฎQOLใฏ่‘—ใ—ใๅˆถ้™ใ•ใ‚Œใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใ€่…น่…”ใƒปๅพŒ่…น่†œๅ†…ใ€ๅ››่‚ขใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคง็—…ๅค‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ็ฅž็ตŒใ‚„ไป–ใฎไธป่ฆใช่„ˆ็ฎกใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ใŒๅ›ฐ้›ฃใจใชใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไป–้ƒจไฝใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚็—…ๅค‰ๅ†…ใฎใƒชใƒณใƒ‘ๅšข่ƒžใฎๅคงใใ•ใ‚„็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Šไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅฎŒๆฒปใฏใปใผไธๅฏ่ƒฝใงใ€ๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200881" ; - terms:source ; - a owl:Class ; - rdfs:label "Giant Lymphatic Malformation ๏ผˆCervicofacial Lesion๏ผ‰"@en, "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Huge Lymphatic malformation"@en, "Huge Lymphatic malformation with cervicofacial lesion"@en ; + skos:prefLabel "obsolete ใ‚ดใƒผใƒใƒ ็—…"@ja . + + + nando:hasNotificationNumber "278" ; + dcterms:description "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰ใฏ้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจใซๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎใƒชใƒณใƒ‘็ฎกๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€ใ‚ดใƒผใƒใƒ ็—…๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ็—‡๏ผ‰ใจใฏ็•ฐใชใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆใƒชใƒณใƒ‘็ฎก่…ซ๏ผ‰ใฏๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธญๅฟƒใซๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜คๆ€ง็—…ๅค‰ใงใ€ๅคšใใฎๅ ดๅˆ็—…ๅค‰ใฎ็ฏ„ๅ›ฒๆ‹กๅคงใ‚„้›ขใ‚ŒใŸ้ƒจไฝใฎๆ–ฐใŸใชๅ‡บ็พใฏใชใ„ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€่จบๆ–ญใƒปๆฒป็™‚ใซๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็‰นใซ็—…ๅค‰ใŒๅคงใใๅบƒ็ฏ„ๅ›ฒใซๅบƒใŒใ‚‹ใ‚‚ใฎใฏ้›ฃๆฒปๆ€งใงใ€ๆฉŸ่ƒฝ้ขใฎใฟใชใ‚‰ใšๆ•ดๅฎน้ขใ‹ใ‚‰ใ‚‚ๆ‚ฃ่€…ใฎQOLใฏ่‘—ใ—ใๅˆถ้™ใ•ใ‚Œใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใ€่…น่…”ใƒปๅพŒ่…น่†œๅ†…ใ€ๅ››่‚ขใซๅฅฝ็™บใ™ใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคง็—…ๅค‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ็ฅž็ตŒใ‚„ไป–ใฎไธป่ฆใช่„ˆ็ฎกใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ใŒๅ›ฐ้›ฃใจใชใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไป–้ƒจไฝใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚็—…ๅค‰ๅ†…ใฎใƒชใƒณใƒ‘ๅšข่ƒžใฎๅคงใใ•ใ‚„็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Šไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅฎŒๆฒปใฏใปใผไธๅฏ่ƒฝใงใ€ๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200881" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Giant lymphatic malformation (cervicofacial lesion)"@en, "ใใ‚‡ใ ใ„ใ‚Šใ‚“ใฑใ‹ใ‚“ใใ‘ใ„๏ผˆใ‘ใ„ใถใŒใ‚“ใ‚ใ‚“ใณใ‚‡ใ†ใธใ‚“๏ผ‰"@ja-Hira, "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Huge lymphatic malformation"@en, "Huge lymphatic malformation with cervicofacial lesion"@en ; + skos:closeMatch obo:MONDO_0016233, obo:MONDO_0019328 ; skos:prefLabel "ๅทจๅคงใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ข็—…ๅค‰๏ผ‰"@ja . -:1200882 - :hasNotificationNumber "279" ; - terms:description "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎๅ…จ้ ˜ๅŸŸใซใณใพใ‚“ๆ€ง้€ฃ็ถšๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใซ็ตฑไธ€ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€งๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ไธๅฏ่ƒฝใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200882" ; - terms:source ; + + nando:hasNotificationNumber "279" ; + dcterms:description "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎๅ…จ้ ˜ๅŸŸใซใณใพใ‚“ๆ€ง้€ฃ็ถšๆ€งใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใซ็ตฑไธ€ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€งๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ใ•ใ‚‰ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้ š้ƒจใƒปๅฃ่…”ใƒปๅ’ฝ้ ญใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ไธๅฏ่ƒฝใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200882" ; + dcterms:source ; a owl:Class ; - rdfs:label "Giant Venous Malformation ๏ผˆCervical, Oral and Oropharyngeal Diffuse Lesion๏ผ‰"@en, "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Giant venous malformation (cervical, oral and oropharyngeal diffuse lesion)"@en, "ใใ‚‡ใ ใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ‘ใ„ใถใ“ใ†ใใ†ใ„ใ‚“ใจใ†ใณใพใ‚“ใ›ใ„ใณใ‚‡ใ†ใธใ‚“๏ผ‰"@ja-Hira, "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Huge venous malformation"@en, "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion"@en ; skos:prefLabel "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจๅฃ่…”ๅ’ฝ้ ญใณใพใ‚“ๆ€ง็—…ๅค‰๏ผ‰"@ja . -:1200883 - :hasNotificationNumber "280" ; - terms:description "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจๅˆใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขใฎๅบƒ็ฏ„ๅ›ฒใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎๅ‹•้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆAVM๏ผ‰ใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก๏ผˆใ‚ทใƒฃใƒณใƒˆ๏ผ‰ใ‚’ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†้ซ˜ๆต้€Ÿ่ก€็ฎกๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆไธ€่‚ขใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€้‡ๅบฆใฎๆŒ็ถš็š„็–ผ็—›ใ€ๆ‚ฃ่‚ขใฎ่™š่ก€ๅฃŠๆญปใ€ๅ››่‚ขๆฉŸ่ƒฝไธๅ…จใชใฉใ‚’ๆฅใ™ใ€‚ใ•ใ‚‰ใซไธก่€…ใจใ‚‚ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใงใฏ็—…ๅค‰ใฎๅ†็™บ้€ฒ่กŒใŒๆ—ฉใใ€ๆฒป็™‚ๅŠนๆžœใฏไธ€ๆ™‚็š„ใจใชใ‚Šใ€ใ‚€ใ—ใ‚ๆ‚ชๅŒ–ใซใ„ใŸใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎๅฐ็—…ๅค‰ใงใฏๆ‚ฃ่‚ขๅˆ‡ๆ–ญใซใ‚ˆใ‚Š็—…ๅค‰้™คๅŽปใŒๅฏ่ƒฝใจใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏ่‚ก้–ข็ฏ€ใ‚„่‚ฉ้–ข็ฏ€ไป˜่ฟ‘ใพใง็—…ๅค‰ใŒๅŠใถใŸใ‚ๆ‚ฃ่‚ขๅˆ‡ๆ–ญ่ก“่‡ชไฝ“ใซ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใฎๅฑ้™บๆ€งใŒใ‚ใ‚Šใ€ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๅˆ‡ๆ–ญไธ่ƒฝใงใ‚ใ‚‹ใ“ใจใฏ่‡ชๆ˜Žใงใ‚ใ‚Šใ€ๅบƒ็ฏ„ๅ›ฒๅˆ‡้™คใฏ่‡ดๆญป็š„ๅ‡บ่ก€ใ‚„้ก”้ขใƒป้ผป่…”ใƒปๅฃ่…”ใƒป้ š้ƒจใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ใ€ใ“ใ‚Œใ‚‚ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ใชใŠ่„ณ๏ฝฅ่„Š้ซ„ใจใ„ใฃใŸไธญๆžข็ฅž็ตŒ็ณปใŒไธปไฝ“ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใใ‚Œไปฅๅค–ใฎ้ƒจไฝใจใฏ่จบๆ–ญ๏ฝฅ็ตŒ้Žใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใฃใฆใŠใ‚Šใ€ๆŒ‡ๅฎš้›ฃ็—…ใจใ—ใฆใฏ้ š้ƒจ้ก”้ขใƒปๅ››่‚ขใฎๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200883" ; - terms:source ; + + nando:hasNotificationNumber "280" ; + dcterms:description "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ก”้ขใƒปๅฃ่…”ใƒปๅ’ฝๅ–‰้ ญใƒป้ š้ƒจๅˆใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขใฎๅบƒ็ฏ„ๅ›ฒใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎๅ‹•้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆAVM๏ผ‰ใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก๏ผˆใ‚ทใƒฃใƒณใƒˆ๏ผ‰ใ‚’ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†้ซ˜ๆต้€Ÿ่ก€็ฎกๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ใณใพใ‚“ๆ€งๅทจๅคง็—…ๅค‰ใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚ใชใ‹ใงใ‚‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใฎๅบƒ็ฏ„ๅ›ฒใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€ๆฐ—้“ๅœง่ฟซใ€ๆ‘‚้ฃŸใƒปๅšฅไธ‹ๅ›ฐ้›ฃใชใฉ็”Ÿๅ‘ฝใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆไธ€่‚ขใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใฏใ€้‡ๅบฆใฎๆŒ็ถš็š„็–ผ็—›ใ€ๆ‚ฃ่‚ขใฎ่™š่ก€ๅฃŠๆญปใ€ๅ››่‚ขๆฉŸ่ƒฝไธๅ…จใชใฉใ‚’ๆฅใ™ใ€‚ใ•ใ‚‰ใซไธก่€…ใจใ‚‚ใซ้‡่ฆใช็ฅž็ตŒใ€่ก€็ฎกใ‚„ไธป่ฆ่‡“ๅ™จใจ็ตกใฟๅˆใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€้€ฒ่กŒใซไผดใ„ๅฟƒไธๅ…จใ€่‡ดๆญป็š„ๅ‡บ่ก€ใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ไป–ใฎ็—…ๅค‰ใจใฏๅˆฅใฎ็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใงใฏ็—…ๅค‰ใฎๅ†็™บ้€ฒ่กŒใŒๆ—ฉใใ€ๆฒป็™‚ๅŠนๆžœใฏไธ€ๆ™‚็š„ใจใชใ‚Šใ€ใ‚€ใ—ใ‚ๆ‚ชๅŒ–ใซใ„ใŸใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅ››่‚ขใฎๅฐ็—…ๅค‰ใงใฏๆ‚ฃ่‚ขๅˆ‡ๆ–ญใซใ‚ˆใ‚Š็—…ๅค‰้™คๅŽปใŒๅฏ่ƒฝใจใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅ››่‚ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏ่‚ก้–ข็ฏ€ใ‚„่‚ฉ้–ข็ฏ€ไป˜่ฟ‘ใพใง็—…ๅค‰ใŒๅŠใถใŸใ‚ๆ‚ฃ่‚ขๅˆ‡ๆ–ญ่ก“่‡ชไฝ“ใซ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใฎๅฑ้™บๆ€งใŒใ‚ใ‚Šใ€ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚้ š้ƒจ้ก”้ขๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๅˆ‡ๆ–ญไธ่ƒฝใงใ‚ใ‚‹ใ“ใจใฏ่‡ชๆ˜Žใงใ‚ใ‚Šใ€ๅบƒ็ฏ„ๅ›ฒๅˆ‡้™คใฏ่‡ดๆญป็š„ๅ‡บ่ก€ใ‚„้ก”้ขใƒป้ผป่…”ใƒปๅฃ่…”ใƒป้ š้ƒจใฎ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ใ€ใ“ใ‚Œใ‚‚ๅฎŒๆฒปใฏไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขใƒปๅ››่‚ข็—…ๅค‰๏ผ‰ใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ใชใŠ่„ณ๏ฝฅ่„Š้ซ„ใจใ„ใฃใŸไธญๆžข็ฅž็ตŒ็ณปใŒไธปไฝ“ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใใ‚Œไปฅๅค–ใฎ้ƒจไฝใจใฏ่จบๆ–ญ๏ฝฅ็ตŒ้Žใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใฃใฆใŠใ‚Šใ€ๆŒ‡ๅฎš้›ฃ็—…ใจใ—ใฆใฏ้ š้ƒจ้ก”้ขใƒปๅ››่‚ขใฎๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200883" ; + dcterms:source ; a owl:Class ; - rdfs:label "Giant Arteriovenous Malformation ๏ผˆCervicofacial / Limb Lesion๏ผ‰"@en, "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Huge arteriovenous malformation"@en, "Huge arteriovenous malformation with cervicofacial or limb lesion"@en ; + rdfs:label "Huge arteriovenous malformation with cervicofacial or limb lesion"@en, "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ‘ใ„ใถใŒใ‚“ใ‚ใ‚“ใพใŸใฏใ—ใ—ใณใ‚‡ใ†ใธใ‚“๏ผ‰"@ja-Hira, "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "gigantic arteriovenous malformation (cervicofacial/limb lesion)"@en ; skos:prefLabel "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ้ š้ƒจ้ก”้ขๅˆใฏๅ››่‚ข็—…ๅค‰๏ผ‰"@ja . -:1200884 - :hasNotificationNumber "281" ; - terms:description "ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€่ปŸ้ƒจใƒปไฝ“่กจใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ˜็ด”ๅž‹ใฎไธญใซใฏ้™่„ˆๅฅ‡ๅฝขใ€ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ็˜ป๏ผ‰ใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใŒๅซใพใ‚Œใ€ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆๆททๅˆๅž‹่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใฏใ“ใ‚Œใ‚‰ใฎ็ต„ใฟๅˆใ‚ใ›ใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่‡ช็„ถ้€€็ธฎใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒใ—ใ€็–ผ็—›ใ‚„ๆฝฐ็˜ใ€ๆ‚ฃ่‚ขใฎๆˆ้•ท็•ฐๅธธใ€ๆฉŸ่ƒฝ้šœๅฎณใ€ๆ•ดๅฎนไธŠใฎๅ•้กŒ็ญ‰ใซใ‚ˆใ‚Š้•ทๆœŸใซใ‚ใŸใ‚Šๆ‚ฃ่€…ใฎQOLใ‚’ๆใชใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซใฏใ€ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹็—…ๅค‰ใ‚„ใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹็—…ๅค‰ใชใฉๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅ‰่€…ใจๅพŒ่€…ใงใฏ็—…ๆ…‹ใ‚„ๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚‹ใ€‚ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€ๅคๅ…ธ็š„ใซใฏใ€ๅ››่‚ขใฎ็‰‡ๅด่‚ฅๅคงใ€็šฎ่†šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ไบŒๆฌกๆ€ง้™่„ˆ็˜คใ€ใ‚’ไธ‰ๅพดใจใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใฏไฝŽๆต้€Ÿๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆ้™่„ˆๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใ€้ซ˜ๆต้€Ÿ็—…ๅค‰๏ผˆๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจๅˆ†ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใจใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใ‚’ๅŽณๅฏ†ใซๅŒบๅˆ†ใ™ใ‚‹ใ“ใจใฏ็‰นใซๅฐๅ…ไพ‹ใงใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆœฌๅฏพ่ฑก็–พ็—…ใจใ—ใฆใฏใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚ๅˆๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใ‚„ๅทจๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใชใฉใฎๆŒ‡่ถพๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่„š้•ทๅทฎใŒ้ซ˜ๅบฆใซใชใ‚‹ใจ่ท›่กŒใ‚„ไปฃๅ„Ÿๆ€ง่„ŠๆคŽๅดๅฝŽ็—‡ใ‚’ๆฅใ™ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฏใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚Šใ€ๅ‡ๅ›บ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“๏ผˆ้ชจ็ซฏ็ทšๆˆ้•ทๆŠ‘ๅˆถ่ก“ใ€้ชจๅปถ้•ท่ก“๏ผ‰ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใƒปๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200884" ; - terms:source ; - a owl:Class ; - rdfs:label "Klippel-Trenaunay-Weber syndrome"@en, "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007864 ; + + nando:hasNotificationNumber "281" ; + dcterms:description "ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰ๅ†…ใซๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€่ปŸ้ƒจใƒปไฝ“่กจใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ˜็ด”ๅž‹ใฎไธญใซใฏ้™่„ˆๅฅ‡ๅฝขใ€ๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆ็˜ป๏ผ‰ใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใŒๅซใพใ‚Œใ€ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆๆททๅˆๅž‹่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใฏใ“ใ‚Œใ‚‰ใฎ็ต„ใฟๅˆใ‚ใ›ใงใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏ่‡ช็„ถ้€€็ธฎใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒใ—ใ€็–ผ็—›ใ‚„ๆฝฐ็˜ใ€ๆ‚ฃ่‚ขใฎๆˆ้•ท็•ฐๅธธใ€ๆฉŸ่ƒฝ้šœๅฎณใ€ๆ•ดๅฎนไธŠใฎๅ•้กŒ็ญ‰ใซใ‚ˆใ‚Š้•ทๆœŸใซใ‚ใŸใ‚Šๆ‚ฃ่€…ใฎQOLใ‚’ๆใชใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซใฏใ€ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹็—…ๅค‰ใ‚„ใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹็—…ๅค‰ใชใฉๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅ‰่€…ใจๅพŒ่€…ใงใฏ็—…ๆ…‹ใ‚„ๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚‹ใ€‚ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€ๅคๅ…ธ็š„ใซใฏใ€ๅ››่‚ขใฎ็‰‡ๅด่‚ฅๅคงใ€็šฎ่†šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ไบŒๆฌกๆ€ง้™่„ˆ็˜คใ€ใ‚’ไธ‰ๅพดใจใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใฏไฝŽๆต้€Ÿๅž‹่„ˆ็ฎกๅฅ‡ๅฝข๏ผˆ้™่„ˆๅฅ‡ๅฝขใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€ใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใ€้ซ˜ๆต้€Ÿ็—…ๅค‰๏ผˆๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผ‰ใ‚’ไธปใจใ™ใ‚‹ใ‚‚ใฎใ‚’ใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจๅˆ†ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผ็—‡ๅ€™็พคใจใƒ‘ใƒผใ‚ฏใ‚นใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใ‚’ๅŽณๅฏ†ใซๅŒบๅˆ†ใ™ใ‚‹ใ“ใจใฏ็‰นใซๅฐๅ…ไพ‹ใงใฏๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆœฌๅฏพ่ฑก็–พ็—…ใจใ—ใฆใฏใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚ๅˆๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใ‚„ๅทจๆŒ‡๏ผˆ่ถพ๏ผ‰็—‡ใชใฉใฎๆŒ‡่ถพๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่„š้•ทๅทฎใŒ้ซ˜ๅบฆใซใชใ‚‹ใจ่ท›่กŒใ‚„ไปฃๅ„Ÿๆ€ง่„ŠๆคŽๅดๅฝŽ็—‡ใ‚’ๆฅใ™ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝขใฏใ€ๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚Šใ€ๅ‡ๅ›บ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“๏ผˆ้ชจ็ซฏ็ทšๆˆ้•ทๆŠ‘ๅˆถ่ก“ใ€้ชจๅปถ้•ท่ก“๏ผ‰ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใƒปๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200884" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Klippel-Trenaunay-Weber syndrome"@en, "ใใ‚Šใฃใบใ‚‹ใƒปใจใ‚Œใฎใญใƒผใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Klippel-Trรฉnanay-Weber syndrome"@en ; + skos:closeMatch obo:MONDO_0007864 ; skos:prefLabel "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja . -:1200885 - :hasNotificationNumber "282" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€๏ผˆCongenital dyserythropoietic anemia๏ผšCDA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ๅŠใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200885" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital dyserythropoietic anemia"@en, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019403 ; + + nando:hasNotificationNumber "282" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€๏ผˆCongenital dyserythropoietic anemia๏ผšCDA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ๅŠใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200885" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital dyserythropoietic anemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CDA"@en, "Congenital dyserythropoietic anaemia"@en ; + skos:closeMatch obo:MONDO_0019403 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja . -:1200886 - :hasNotificationNumber "282" ; - terms:identifier "1200886" ; - terms:source ; + + nando:hasNotificationNumber "282" ; + dcterms:identifier "NANDO:1200886" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital dyserythropoietic anemia type I"@en, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020337 ; + rdfs:label "Congenital dyserythropoietic anemia type I"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท1"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CDA I"@en, "Congenital dyserythropoietic anaemia type I"@en ; + skos:closeMatch obo:MONDO_0020337 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type I"@ja . -:1200887 - :hasNotificationNumber "282" ; - terms:identifier "1200887" ; - terms:source ; + + nando:hasNotificationNumber "282" ; + dcterms:identifier "NANDO:1200887" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital dyserythropoietic anemia type II"@en, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009134 ; + rdfs:label "Congenital dyserythropoietic anemia type II"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท2"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CDA II"@en, "Congenital dyserythropoietic anaemia type II"@en ; + skos:closeMatch obo:MONDO_0009134 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type II"@ja . -:1200888 - :hasNotificationNumber "282" ; - terms:identifier "1200888" ; - terms:source ; + + nando:hasNotificationNumber "282" ; + dcterms:identifier "NANDO:1200888" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital dyserythropoietic anemia type III"@en, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007109 ; + rdfs:label "Congenital dyserythropoietic anemia type III"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค ใŸใ„ใท3"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CDA III"@en, "Congenital dyserythropoietic aanemia type III"@en ; + skos:closeMatch obo:MONDO_0007109 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€ Type III"@ja . -:1200889 - :hasNotificationNumber "283" ; - terms:description "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ๅŠใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็—…ๅ› ใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚่ตค่Šฝ็ƒ็™†ใฎ็—…ๅž‹ๅˆ†้กžใจใ—ใฆๅคงใใใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200889" ; - terms:source ; + + nando:hasNotificationNumber "283" ; + dcterms:description "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ๅŠใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€็—…ๅ› ใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚่ตค่Šฝ็ƒ็™†ใฎ็—…ๅž‹ๅˆ†้กžใจใ—ใฆๅคงใใใ€ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200889" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acquired pure red cell aplasia"@en, "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020338 ; + rdfs:label "Acquired pure red cell aplasia"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ†"@ja-Hira, "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020338 ; skos:prefLabel "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja . -:1200890 - :hasNotificationNumber "284" ; - terms:description "่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ด„ๅŠๆ•ฐใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200890" ; - terms:source ; - a owl:Class ; - rdfs:label "Diamond-Blackfan Anaemia"@en, "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "284" ; + dcterms:description "่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ด„ๅŠๆ•ฐใซ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200890" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Diamond-Blackfan anemia"@en, "ใ ใ„ใ‚ใ‚‚ใ‚“ใฉใƒปใถใ‚‰ใฃใใตใใ‚“ใฒใ‚“ใ‘ใค"@ja-Hira, "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital red cell aplasia"@en, "Diamond-Blackfan anaemia"@en, "Diamond-Blackfan่ฒง่ก€"@ja, "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja ; + skos:closeMatch obo:MONDO_0015253 ; skos:prefLabel "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€"@ja . -:1200891 - :hasNotificationNumber "285" ; - terms:description "ๆŸ“่‰ฒไฝ“ใฎ่„†ๅผฑๆ€งใ‚’่ƒŒๆ™ฏใซใ€๏ผ‘)้€ฒ่กŒๆ€งๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใ‚„็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€๏ผ“๏ผ‰่บซไฝ“ๅฅ‡ๅฝขใ€๏ผ”๏ผ‰ๅ›บๅฝขใŒใ‚“ใฎๅˆไฝตใ‚’ๆฅใ™ใ“ใจใฎใ‚ใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200891" ; - terms:source ; - a owl:Class ; - rdfs:label "Fanconi anemia"@en, "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009215, mondo:MONDO_0019391 ; + + nando:hasNotificationNumber "285" ; + dcterms:description "ๆŸ“่‰ฒไฝ“ใฎ่„†ๅผฑๆ€งใ‚’่ƒŒๆ™ฏใซใ€๏ผ‘)้€ฒ่กŒๆ€งๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€๏ผ’๏ผ‰้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใ‚„็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€๏ผ“๏ผ‰่บซไฝ“ๅฅ‡ๅฝขใ€๏ผ”๏ผ‰ๅ›บๅฝขใŒใ‚“ใฎๅˆไฝตใ‚’ๆฅใ™ใ“ใจใฎใ‚ใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200891" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fanconi anemia"@en, "ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค"@ja-Hira, "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Fanconi anaemia"@en ; + skos:closeMatch obo:MONDO_0019391 ; skos:prefLabel "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja . -:1200892 - :hasNotificationNumber "286" ; - terms:description "้ชจ้ซ„ใซใŠใ„ใฆใ€ๆ ธใฎๅ‘จๅ›ฒใซ็’ฐ็Šถใซ้‰„ใŒๆฒˆ็€ใ—ใŸ่ตค่Šฝ็ƒ๏ผˆ็’ฐ็Šถ้‰„่Šฝ็ƒ๏ผ‰ใฎๅ‡บ็พใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ฒง่ก€ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใซไปฃ่กจใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฎ้‘‘ๅˆฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ„ใฆใฏ่ตค่ก€็ƒใซใŠใ‘ใ‚‹ใƒ˜ใƒ ๅˆๆˆใฎๅˆ็™บ้…ต็ด ใงใ‚ใ‚‹่ตค่ก€็ƒๅž‹ใ‚ขใƒŸใƒŽใƒฌใƒ–ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใฏXๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€งใฎ้บไผๅฝขๅผใ‚’ใจใ‚Šใ€็”ทๅ…ใซใฎใฟใซ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200892" ; - terms:source ; - a owl:Class ; - rdfs:label "Hereditary sideroblastic anemia"@en, "้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "286" ; + dcterms:description "้ชจ้ซ„ใซใŠใ„ใฆใ€ๆ ธใฎๅ‘จๅ›ฒใซ็’ฐ็Šถใซ้‰„ใŒๆฒˆ็€ใ—ใŸ่ตค่Šฝ็ƒ๏ผˆ็’ฐ็Šถ้‰„่Šฝ็ƒ๏ผ‰ใฎๅ‡บ็พใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ฒง่ก€ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใซไปฃ่กจใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฎ้‘‘ๅˆฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใซใŠใ„ใฆใฏ่ตค่ก€็ƒใซใŠใ‘ใ‚‹ใƒ˜ใƒ ๅˆๆˆใฎๅˆ็™บ้…ต็ด ใงใ‚ใ‚‹่ตค่ก€็ƒๅž‹ใ‚ขใƒŸใƒŽใƒฌใƒ–ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใ€‚ใ“ใฎๅ ดๅˆใฏXๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€งใฎ้บไผๅฝขๅผใ‚’ใจใ‚Šใ€็”ทๅ…ใซใฎใฟใซ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200892" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hereditary sideroblastic anemia"@en, "ใ„ใงใ‚“ใ›ใ„ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Hereditary sideroblastic anaemia"@en ; + skos:closeMatch obo:MONDO_0020099 ; skos:prefLabel "้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja . -:1200893 - :hasNotificationNumber "287" ; - terms:description "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พคใฏใ€MYH9้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใฎใฒใจใคใงใ€ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ€้€ฒ่กŒๆ€ง่…Ž้šœๅฎณ๏ผˆๅทฃ็Šถ็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใชใฉ๏ผ‰ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็™ฝๅ†…้šœใ‚’ใจใ‚‚ใชใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200893" ; - terms:source ; - a owl:Class ; - rdfs:label "Epstein syndrome"@en, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007954, mondo:MONDO_0015912 ; + + nando:hasNotificationNumber "287" ; + dcterms:description "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พคใฏใ€MYH9้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใฎใฒใจใคใงใ€ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ€้€ฒ่กŒๆ€ง่…Ž้šœๅฎณ๏ผˆๅทฃ็Šถ็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใชใฉ๏ผ‰ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็™ฝๅ†…้šœใ‚’ใจใ‚‚ใชใ†ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200893" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Epstein syndrome"@en, "ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Epstein็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007954 ; skos:prefLabel "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja . -:1200894 - :hasNotificationNumber "287" ; - terms:identifier "1200894" ; - terms:source ; + + nando:hasNotificationNumber "287" ; + dcterms:identifier "NANDO:1200894" ; + dcterms:source ; a owl:Class ; - rdfs:label "severe Epstein syndrome"@en, "ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Severe Epstein syndrome"@en, "ใ•ใ„ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๆœ€้‡็—‡ๅž‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja . -:1200895 - :hasNotificationNumber "287" ; - terms:identifier "1200895" ; - terms:source ; - a owl:Class ; - rdfs:label "ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200896 - :hasNotificationNumber "288" ; - terms:description "่ก€ๆถฒใŒๅ‡ๅ›บใ™ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใงใ‚ใ‚‹ๅ‡ๅ›บๅ› ๅญใŒใ€ๅ…ˆๅคฉๆ€งใ‚„้บไผๆ€งใงใฏใชใ„็†็”ฑใง่‘—ใ—ใๆธ›ๅฐ‘ใ™ใ‚‹ใŸใ‚ใ€ๆญข่ก€ใฎใŸใ‚ใฎๆญข่ก€ๆ “ใŒใงใใซใใใชใฃใŸใ‚Šใ€ๅผฑใใชใฃใฆ็ฐกๅ˜ใซๅฃŠใ‚Œใ‚„ใ™ใใชใ‚Šใ€่‡ช็„ถใซใ‚ใ‚‹ใ„ใฏ่ปฝใ„ๆ‰“ๆ’ฒใชใฉใงใ•ใˆ้‡ใ„ๅ‡บ่ก€ใ‚’่ตทใ“ใ™็–พ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆฌ ไนใ™ใ‚‹ๅ‡ๅ›บๅ› ๅญใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€๏ผ‘๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXIII๏ผ13ๅ› ๅญ๏ผˆF13๏ผ‰ๆฌ ไน็—‡๏ผˆๆ—ง็งฐ๏ผš่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII๏ผ‰ใ€ใ€๏ผ’๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌVIII๏ผ8ๅ› ๅญ๏ผˆF8๏ผ‰ๆฌ ไน็—‡๏ผˆๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A๏ผ‰ใ€ใ€๏ผ“๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆvon Willebrand factor๏ผšVWF๏ผ‰ๆฌ ไน็—‡๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…๏ผˆvon Willebrand Disease๏ผšVWD๏ผ‰๏ผ‰ใ€ใ€๏ผ”๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌV๏ผ5ๅ› ๅญ๏ผˆF5๏ผ‰ๆฌ ไน็—‡๏ผˆใ„ใ‚ใ‚†ใ‚‹็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ๏ผ‰ใ€ใฎ๏ผ”็–พ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200896" ; - terms:source ; - a owl:Class ; - rdfs:label "autoimmune acquired coagulation factor deficiency"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "287" ; + dcterms:identifier "NANDO:1200895" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Moderate Epstein syndrome"@en, "ใกใ‚…ใ†ใจใ†ใ—ใ‚‡ใ†ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ไธญ็ญ‰็—‡ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "288" ; + dcterms:description "่ก€ๆถฒใŒๅ‡ๅ›บใ™ใ‚‹ใŸใ‚ใซๅฟ…่ฆใชใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใงใ‚ใ‚‹ๅ‡ๅ›บๅ› ๅญใŒใ€ๅ…ˆๅคฉๆ€งใ‚„้บไผๆ€งใงใฏใชใ„็†็”ฑใง่‘—ใ—ใๆธ›ๅฐ‘ใ™ใ‚‹ใŸใ‚ใ€ๆญข่ก€ใฎใŸใ‚ใฎๆญข่ก€ๆ “ใŒใงใใซใใใชใฃใŸใ‚Šใ€ๅผฑใใชใฃใฆ็ฐกๅ˜ใซๅฃŠใ‚Œใ‚„ใ™ใใชใ‚Šใ€่‡ช็„ถใซใ‚ใ‚‹ใ„ใฏ่ปฝใ„ๆ‰“ๆ’ฒใชใฉใงใ•ใˆ้‡ใ„ๅ‡บ่ก€ใ‚’่ตทใ“ใ™็–พ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆฌ ไนใ™ใ‚‹ๅ‡ๅ›บๅ› ๅญใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€๏ผ‘๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXIII๏ผ13ๅ› ๅญ๏ผˆF13๏ผ‰ๆฌ ไน็—‡๏ผˆๆ—ง็งฐ๏ผš่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII๏ผ‰ใ€ใ€๏ผ’๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌVIII๏ผ8ๅ› ๅญ๏ผˆF8๏ผ‰ๆฌ ไน็—‡๏ผˆๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A๏ผ‰ใ€ใ€๏ผ“๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆvon Willebrand factor๏ผšVWF๏ผ‰ๆฌ ไน็—‡๏ผˆ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…๏ผˆvon Willebrand Disease๏ผšVWD๏ผ‰๏ผ‰ใ€ใ€๏ผ”๏ผ‰ใ€Œ่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌV๏ผ5ๅ› ๅญ๏ผˆF5๏ผ‰ๆฌ ไน็—‡๏ผˆใ„ใ‚ใ‚†ใ‚‹็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ๏ผ‰ใ€ใฎ๏ผ”็–พ็—…ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200896" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autoimmune acquired coagulation factor deficiency"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AiCFD"@en ; + skos:closeMatch obo:MONDO_0020599 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡"@ja . -:1200897 - :hasNotificationNumber "288" ; - terms:identifier "1200897" ; - terms:source ; + + nando:hasNotificationNumber "288" ; + dcterms:identifier "NANDO:1200897" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune Hemorrhaphilia XIII/13"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "AH13"@en ; + rdfs:label "Autoimmune hemorrhaphilia XIII/13"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„13/13ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AH 13"@en, "Autoimmune haemorrhaphilia XIII/13"@en, "Autoimmune hemophilia-like disease due to anti-factor XIII antibodies"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅ‡บ่ก€็—…XIII"@ja ; + skos:closeMatch obo:MONDO_0021133 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ XIII/13 ๅ› ๅญๆฌ ไน็—‡"@ja . -:1200898 - :hasNotificationNumber "288" ; - terms:identifier "1200898" ; - terms:source ; + + nando:hasNotificationNumber "288" ; + dcterms:identifier "NANDO:1200898" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acquired hemophilia A"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A"@ja ; + rdfs:label "Acquired hemophilia A"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„8/8ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acquired haemophilia A"@en, "ๅพŒๅคฉๆ€ง่ก€ๅ‹็—…A"@ja ; + skos:closeMatch obo:MONDO_0019139 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ VIII/8 ๅ› ๅญๆฌ ไน็—‡"@ja . -:1200899 - :hasNotificationNumber "288" ; - terms:identifier "1200899" ; - terms:source ; - a owl:Class ; - rdfs:label "Acquired von Willebrand disease"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ•ใ‚™ใƒฉใƒณใƒˆใ‚™ๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "AVWD"@en, "AVWD"@ja, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja ; - skos:closeMatch mondo:MONDO_0020460 ; - skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ•ใ‚™ใƒฉใƒณใƒˆใ‚™ๅ› ๅญๆฌ ไน็—‡"@ja . - -:1200900 - :hasNotificationNumber "288" ; - terms:identifier "1200900" ; - terms:source ; - a owl:Class ; - rdfs:label "Acquired Factor V Inhibitor"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "AF5D"@en ; + + nando:hasNotificationNumber "288" ; + dcterms:identifier "NANDO:1200899" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acquired von Willebrand disease"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใตใ‰ใ‚“ใ†ใƒใ‚‹ใถใ‚‰ใ‚“ใฉใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AVWD"@ja, "Acquired von Willebrand syndrome"@en, "AvWD"@en, "AvWS"@en, "von Willebrand็—…"@ja, "ๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใƒปใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—‡ๅ€™็พค"@ja, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja ; + skos:closeMatch obo:MONDO_0020460 ; + skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "288" ; + dcterms:identifier "NANDO:1200900" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acquired factor V inhibitor"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„5/5ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AF5D"@en, "AFVI"@en, "ๅพŒๅคฉๆ€ง็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ"@ja, "็ฌฌ5ๅ› ๅญใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ"@ja, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งF5ๆฌ ไน็—‡"@ja ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌ V/5 ๅ› ๅญๆฌ ไน็—‡"@ja . -:1200901 - :hasNotificationNumber "289" ; - terms:description "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€๏ผˆCronkhite-canada๏ผ‰็—‡ๅ€™็พคใฏใ€ๆถˆๅŒ–็ฎก๏ผˆ็‰นใซ่ƒƒใƒปๅคง่…ธ๏ผ‰ใซๅคšๆ•ฐใฎ้ž่…ซ็˜ๆ€งใƒใƒชใƒผใƒ—ใŒ็™บ็”Ÿใ™ใ‚‹้ž้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็—‡็Šถ๏ผˆ่„ฑๆฏ›ใƒป็ˆช็”ฒ่Ž็ธฎใƒป็šฎ่†š่‰ฒ็ด ๆฒˆ็€๏ผ‰ใ‚’ไผดใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚„่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ‚’้ซ˜็Ž‡ใซไผดใ†ใ€‚ไธญ้ซ˜ๅนดใฎ็”ทๆ€งใซๅคšใ„ใ€‚ไธ–็•Œ็š„ใซๅธŒๅฐ‘ใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅ ฑๅ‘Šใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚"@ja ; - terms:identifier "1200901" ; - terms:source ; - a owl:Class ; - rdfs:label "Cronkhite-Canada syndrome"@en, "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008283 ; + + nando:hasNotificationNumber "289" ; + dcterms:description "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€๏ผˆCronkhite-canada๏ผ‰็—‡ๅ€™็พคใฏใ€ๆถˆๅŒ–็ฎก๏ผˆ็‰นใซ่ƒƒใƒปๅคง่…ธ๏ผ‰ใซๅคšๆ•ฐใฎ้ž่…ซ็˜ๆ€งใƒใƒชใƒผใƒ—ใŒ็™บ็”Ÿใ™ใ‚‹้ž้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็—‡็Šถ๏ผˆ่„ฑๆฏ›ใƒป็ˆช็”ฒ่Ž็ธฎใƒป็šฎ่†š่‰ฒ็ด ๆฒˆ็€๏ผ‰ใ‚’ไผดใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚„่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ‚’้ซ˜็Ž‡ใซไผดใ†ใ€‚ไธญ้ซ˜ๅนดใฎ็”ทๆ€งใซๅคšใ„ใ€‚ไธ–็•Œ็š„ใซๅธŒๅฐ‘ใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฎๅ ฑๅ‘Šใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200901" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cronkhite-Canada syndrome"@en, "ใใ‚ใ‚“ใ‹ใ„ใจใƒปใ‹ใชใ ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Cronkhite-Canada็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008283 ; skos:prefLabel "ใ‚ฏใƒญใƒณใ‚ซใ‚คใƒˆใƒปใ‚ซใƒŠใƒ€็—‡ๅ€™็พค"@ja . -:1200902 - :hasNotificationNumber "290" ; - terms:description "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€่‹ฅๅนดๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฏไธญๅฟƒ้™่„ˆๆ „้คŠ้‡ๆณ•ไปฅๅค–ใฎใ‚ใ‚‰ใ‚†ใ‚‹ๆฒป็™‚ๆณ•ใซๆŠตๆŠ—ๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200902" ; - terms:source ; + + nando:hasNotificationNumber "290" ; + dcterms:description "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€่‹ฅๅนดๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฏไธญๅฟƒ้™่„ˆๆ „้คŠ้‡ๆณ•ไปฅๅค–ใฎใ‚ใ‚‰ใ‚†ใ‚‹ๆฒป็™‚ๆณ•ใซๆŠตๆŠ—ๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200902" ; + dcterms:source ; a owl:Class ; - rdfs:label "Nonspecific Multiple Ulcers of Small Intestine"@en, "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Chronic nonspecific multiple ulcers of the small intestine"@en ; + rdfs:label "Chronic nonspecific multiple ulcers of the small intestine"@en, "ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CEAS"@en, "Chronic enteropathy associated with SLCO2A1"@en ; skos:prefLabel "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja . -:1200903 - :hasNotificationNumber "291" ; - terms:description "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10๏ผ…็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200903" ; - terms:source ; - a owl:Class ; - rdfs:label "Hirschsprung disease"@en, "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "Hirschsprung Disease ๏ผˆEntire Colon type / Extensive type๏ผ‰"@en ; - skos:closeMatch mondo:MONDO_0007723, mondo:MONDO_0018309 ; + + nando:hasNotificationNumber "291" ; + dcterms:description "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10๏ผ…็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200903" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hirschsprung disease"@en, "ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Hirschsprung Disease (Entire Colon type / Extensive type)"@en, "Hirschsprung's disease"@en, "Hirschsprung็—…"@ja ; + skos:closeMatch obo:MONDO_0018309 ; skos:prefLabel "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:1200904 - :hasNotificationNumber "291" ; - terms:identifier "1200904" ; - terms:source ; + + nando:hasNotificationNumber "291" ; + dcterms:identifier "NANDO:1200904" ; + dcterms:source ; a owl:Class ; - rdfs:label "Short-Segment Hirschsprung'sย Disease"@en, "็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Short-segment Hirschsprung's disease"@en, "ใกใ‚‡ใใกใ‚‡ใ†ใ‹ใถใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Short-segment Hirschsprung disease"@en ; skos:prefLabel "็›ด่…ธไธ‹้ƒจๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:1200905 - :hasNotificationNumber "291" ; - terms:identifier "1200905" ; - terms:source ; + + nando:hasNotificationNumber "291" ; + dcterms:identifier "NANDO:1200905" ; + dcterms:source ; a owl:Class ; - rdfs:label "S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja, "rectosigmoid Hirschsprung'sย disease"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Rectosigmoid Hirschsprung's disease"@en, "S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja, "ใˆใ™ใ˜ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Rectosigmoid Hirschsprung disease"@en ; skos:prefLabel "S็Šถ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:1200906 - :hasNotificationNumber "291" ; - terms:identifier "1200906" ; - terms:source ; + + nando:hasNotificationNumber "291" ; + dcterms:identifier "NANDO:1200906" ; + dcterms:source ; a owl:Class ; - rdfs:label "Long-segment Hirschsprung'sย disease"@en, "ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Long-segment Hirschsprung's disease"@en, "ใ•ใ‚†ใ†ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Long-segment Hirschsprung disease"@en ; skos:prefLabel "ๅทฆๅณ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:1200907 - :hasNotificationNumber "291" ; - terms:identifier "1200907" ; - terms:source ; + + nando:hasNotificationNumber "291" ; + dcterms:identifier "NANDO:1200907" ; + dcterms:source ; a owl:Class ; - rdfs:label "Entire colon Hirschsprung disease"@en, "ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Entire colon Hirschsprung disease"@en, "ใœใ‚“ใ‘ใฃใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Entire colon Hirschsprung's disease"@en ; skos:prefLabel "ๅ…จ็ต่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:1200908 - :hasNotificationNumber "291" ; - terms:identifier "1200908" ; - terms:source ; + + nando:hasNotificationNumber "291" ; + dcterms:identifier "NANDO:1200908" ; + dcterms:source ; a owl:Class ; - rdfs:label "Extensive aganglionosis Hirschsprung disease"@en, "ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Extensive aganglionosis Hirschsprung disease"@en, "ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใŒใŸใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Extensive aganglionosis Hirschsprung's disease"@en ; skos:prefLabel "ๅฐ่…ธๅž‹ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:1200909 - :hasNotificationNumber "292" ; - terms:description "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏไฝŽๅฝขๆˆใง็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่…Ÿๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ€€็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ15๏ฝž20ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๆ€งๅˆฅใงใฏใ€่‹ฅๅนฒๅฅณๅ…ใซๅคšใ„ใ€‚ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€229ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„20ไธ‡ใฎๅ‡บ็”Ÿใซ1ไบบใงใ‚ใฃใŸใ€‚"@ja ; - terms:identifier "1200909" ; - terms:source ; + + nando:hasNotificationNumber "292" ; + dcterms:description "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏไฝŽๅฝขๆˆใง็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่…Ÿๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ใ€€็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ15๏ฝž20ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๆ€งๅˆฅใงใฏใ€่‹ฅๅนฒๅฅณๅ…ใซๅคšใ„ใ€‚ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€229ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„20ไธ‡ใฎๅ‡บ็”Ÿใซ1ไบบใงใ‚ใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200909" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cloacal exstrophy"@en, "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009774 ; + rdfs:label "Cloacal exstrophy"@en, "ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009774 ; skos:prefLabel "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja . -:1200910 - :hasNotificationNumber "293" ; - terms:description "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่…Ÿใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ๏ผ•๏ฝž๏ผ™้€ฑใซใ‹ใ‘ใฆ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่…Ÿใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่…Ÿๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ๏ผ–๏ฝž10ไธ‡ใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ466ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„10ไธ‡ใฎๅ‡บ็”Ÿใซ๏ผ‘ไบบใงใ‚ใฃใŸใ€‚"@ja ; - terms:identifier "1200910" ; - terms:source ; + + nando:hasNotificationNumber "293" ; + dcterms:description "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่…Ÿใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ๏ผ•๏ฝž๏ผ™้€ฑใซใ‹ใ‘ใฆ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่…ŸๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่…Ÿใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่…Ÿๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ๏ผ–๏ฝž10ไธ‡ใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ๅนณๆˆ26ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ466ไพ‹ใŒ้›†่จˆใ•ใ‚Œใ€ๆœ€่ฟ‘30ๅนด้–“ใฎ็™บ็”Ÿ้ ปๅบฆใฏ็ด„10ไธ‡ใฎๅ‡บ็”Ÿใซ๏ผ‘ไบบใงใ‚ใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200910" ; + dcterms:source ; a owl:Class ; - rdfs:label "Persistent cloaca"@en, "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Persistent cloaca"@en, "ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“"@ja-Hira, "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009774 ; skos:prefLabel "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja . -:1200911 - :hasNotificationNumber "294" ; - terms:description "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚่ƒธ่…”ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200911" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital diaphragmatic hernia"@en, "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005711 ; + + nando:hasNotificationNumber "294" ; + dcterms:description "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚่ƒธ่…”ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200911" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital diaphragmatic hernia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CDH"@en ; + skos:closeMatch obo:MONDO_0005711 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja . -:1200912 - :hasNotificationNumber "295" ; - terms:description "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใ‚’ๅŒ…ๅซใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใฏ็„ก็—‡ๅ€™ๆ€งใ ใŒใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€่‡ดๆญป็š„็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็‹ฌ็ซ‹ใ—ใŸ่‡จๅบŠ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚ŒใŸใ€‚ๅนณๆˆ22ๅนดๅบฆใ‹ใ‚‰ใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ่ชฟๆŸปใงใฏใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ–ฐ่ฆ็™บ็—‡ไพ‹ๆ•ฐใฏๅนด้–“๏ผ•๏ฝž10ไพ‹็จ‹ๅบฆใจๆŽจๅฎšใ•ใ‚Œใ€ๆ˜Žใ‚‰ใ‹ใช็”ทๅฅณๅทฎใฏใชใ„ใ€‚ๅคšใใฏไนณๅ…ๆœŸๆ—ฉๆœŸใพใงใซ่จบๆ–ญใ•ใ‚Œใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญไพ‹ใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ็—‡ไพ‹ใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใฏ้‡็—‡ใง้ซ˜ใƒชใ‚นใ‚ฏใจใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸไปฅ้™ใซใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใฎ่‚ๅ†…้–€่„ˆ่‚้™่„ˆใ‚ทใƒฃใƒณใƒˆใฎๆต้‡ๅข—ๅคงใ‹ใ‚‰ใ€่‚็กฌๅค‰็—‡ใ€่‚ๆฉŸ่ƒฝไฝŽไธ‹ใŒ้€ฒ่กŒใ—ใ€่‚ไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใฎใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€่‡ดๆญป็š„ใชๆ€ฅๆ€งๆœŸ็—‡็Šถใจๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใฎๅŒๆ–นใŒๅ•้กŒใจใชใฃใฆใ„ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใซๅฏพใ—ใฆใฏ่‚็งปๆคไปฅๅค–ใซๆ นๆฒป็š„ใชๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚"@ja ; - terms:identifier "1200912" ; - terms:source ; + + nando:hasNotificationNumber "295" ; + dcterms:description "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใ‚’ๅŒ…ๅซใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใฏ็„ก็—‡ๅ€™ๆ€งใ ใŒใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€่‡ดๆญป็š„็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็‹ฌ็ซ‹ใ—ใŸ่‡จๅบŠ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚ŒใŸใ€‚ๅนณๆˆ22ๅนดๅบฆใ‹ใ‚‰ใฎๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ่ชฟๆŸปใงใฏใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๆ–ฐ่ฆ็™บ็—‡ไพ‹ๆ•ฐใฏๅนด้–“๏ผ•๏ฝž10ไพ‹็จ‹ๅบฆใจๆŽจๅฎšใ•ใ‚Œใ€ๆ˜Žใ‚‰ใ‹ใช็”ทๅฅณๅทฎใฏใชใ„ใ€‚ๅคšใใฏไนณๅ…ๆœŸๆ—ฉๆœŸใพใงใซ่จบๆ–ญใ•ใ‚Œใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญไพ‹ใ‚‚ๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ็—‡ไพ‹ใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใฏ้‡็—‡ใง้ซ˜ใƒชใ‚นใ‚ฏใจใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸไปฅ้™ใซใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใฎ่‚ๅ†…้–€่„ˆ่‚้™่„ˆใ‚ทใƒฃใƒณใƒˆใฎๆต้‡ๅข—ๅคงใ‹ใ‚‰ใ€่‚็กฌๅค‰็—‡ใ€่‚ๆฉŸ่ƒฝไฝŽไธ‹ใŒ้€ฒ่กŒใ—ใ€่‚ไธๅ…จใซ้™ฅใ‚‹็—‡ไพ‹ใฎใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใฆใŠใ‚Šใ€่‡ดๆญป็š„ใชๆ€ฅๆ€งๆœŸ็—‡็Šถใจๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใฎๅŒๆ–นใŒๅ•้กŒใจใชใฃใฆใ„ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใฎ็—…ๆ…‹ใซๅฏพใ—ใฆใฏ่‚็งปๆคไปฅๅค–ใซๆ นๆฒป็š„ใชๆฒป็™‚ๆณ•ใŒใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200912" ; + dcterms:source ; a owl:Class ; - rdfs:label "Infantile Giant Hepatic Haemangiomas"@en, "ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Infant huge hepatic hemangioma"@en ; + rdfs:label "Infantile giant hepatic hemangiomas"@en, "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…"@ja-Hira, "ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Infantile giant hepatic haemangiomas"@en ; skos:prefLabel "ไนณๅนผๅ…่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja . -:1200913 - :hasNotificationNumber "296" ; - terms:description "่ƒ†้“้–‰้Ž–็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‚Ž็—‡ๆ€งใซ่‚ๅค–่ƒ†็ฎก็ต„็น”ใฎ็ ดๅฃŠใŒ่ตทใ“ใ‚Šใ€ๆง˜ใ€…ใชใƒฌใƒ™ใƒซใงใฎ่‚ๅค–่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จไฝ“ใฎ็ด„85๏ผ…ใŒ่‚้–€้ƒจใซใŠใ„ใฆ่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸๅคšใใฎ็—‡ไพ‹ใง็‚Ž็—‡ๆ€งใฎ่ƒ†็ฎก้šœๅฎณใฏ่‚ๅค–่ƒ†็ฎกใฎใฟใชใ‚‰ใš่‚ๅ†…ใฎๅฐ่‘‰้–“่ƒ†็ฎกใพใงใŠใ‚ˆใ‚“ใงใ„ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ10,000ใ‹ใ‚‰15,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1989ๅนดใ‹ใ‚‰่กŒใ‚ใ‚Œใฆใ„ใ‚‹ๆ—ฅๆœฌ่ƒ†้“้–‰้Ž–็—‡็ ”็ฉถไผšใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็™ป้Œฒใซใฏ2010ๅนดใพใงใซ2516ไพ‹ใฎ็™ป้ŒฒใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200913" ; - terms:source ; - a owl:Class ; - rdfs:label "Biliary atresia"@en, "่ƒ†้“้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008867, mondo:MONDO_0028737 ; + + nando:hasNotificationNumber "296" ; + dcterms:description "่ƒ†้“้–‰้Ž–็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้›ฃๆฒปๆ€งใฎ่ƒ†ๆฑใ†ใฃๆปž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‚Ž็—‡ๆ€งใซ่‚ๅค–่ƒ†็ฎก็ต„็น”ใฎ็ ดๅฃŠใŒ่ตทใ“ใ‚Šใ€ๆง˜ใ€…ใชใƒฌใƒ™ใƒซใงใฎ่‚ๅค–่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จไฝ“ใฎ็ด„85๏ผ…ใŒ่‚้–€้ƒจใซใŠใ„ใฆ่ƒ†็ฎกใฎ้–‰ๅกžใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸๅคšใใฎ็—‡ไพ‹ใง็‚Ž็—‡ๆ€งใฎ่ƒ†็ฎก้šœๅฎณใฏ่‚ๅค–่ƒ†็ฎกใฎใฟใชใ‚‰ใš่‚ๅ†…ใฎๅฐ่‘‰้–“่ƒ†็ฎกใพใงใŠใ‚ˆใ‚“ใงใ„ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏ10,000ใ‹ใ‚‰15,000ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1989ๅนดใ‹ใ‚‰่กŒใ‚ใ‚Œใฆใ„ใ‚‹ๆ—ฅๆœฌ่ƒ†้“้–‰้Ž–็—‡็ ”็ฉถไผšใซใ‚ˆใ‚‹ๅ…จๅ›ฝ็™ป้Œฒใซใฏ2010ๅนดใพใงใซ2516ไพ‹ใฎ็™ป้ŒฒใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200913" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Biliary atresia"@en, "ใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "่ƒ†้“้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "BA"@en ; + skos:closeMatch obo:MONDO_0008867, obo:MONDO_0028737 ; skos:prefLabel "่ƒ†้“้–‰้Ž–็—‡"@ja . -:1200914 - :hasNotificationNumber "296" ; - terms:identifier "1200914" ; - terms:source ; - a owl:Class ; - rdfs:label "type II biliaryย atresia"@en, "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "โ… ๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . - -:1200915 - :hasNotificationNumber "296" ; - terms:identifier "1200915" ; - terms:source ; - a owl:Class ; - rdfs:label "type I cystic biliary atresia"@en, "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "โ… cystๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . - -:1200916 - :hasNotificationNumber "296" ; - terms:identifier "1200916" ; - terms:source ; - a owl:Class ; - rdfs:label "type II biliaryย atresia"@en, "โ…กๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "โ…กๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . - -:1200917 - :hasNotificationNumber "296" ; - terms:identifier "1200917" ; - terms:source ; - a owl:Class ; - rdfs:label "type III biliaryย atresia"@en, "โ…ขๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:prefLabel "โ…ขๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . - -:1200918 - :hasNotificationNumber "297" ; - terms:description "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€ใ€Œ่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ๏ผ“็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€ใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๆ‚ฃ่€…ๆ•ฐใฏ200๏ฝž300ไบบ็จ‹ๅบฆใจๆŽจๆธฌใ•ใ‚ŒใŸใ€‚"@ja ; - terms:identifier "1200918" ; - terms:source ; - a owl:Class ; - rdfs:label "Alagille syndrome"@en, "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007318 ; + + nando:hasNotificationNumber "296" ; + dcterms:identifier "NANDO:1200914" ; + dcterms:source ; + a owl:Class ; + rdfs:label "1ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "Iๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type I biliary atresia"@en ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "Iๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "296" ; + dcterms:identifier "NANDO:1200915" ; + dcterms:source ; + a owl:Class ; + rdfs:label "1ใ—ใ™ใจใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "Icystๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type I cystic biliary atresia"@en ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "Icystๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "296" ; + dcterms:identifier "NANDO:1200916" ; + dcterms:source ; + a owl:Class ; + rdfs:label "2ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "IIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type II biliary atresia"@en ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "IIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "296" ; + dcterms:identifier "NANDO:1200917" ; + dcterms:source ; + a owl:Class ; + rdfs:label "3ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type III biliary atresia"@en ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "297" ; + dcterms:description "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€ใ€Œ่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ๏ผ“็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€ใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ—ฅๆœฌใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏใ€ๆ‚ฃ่€…ๆ•ฐใฏ200๏ฝž300ไบบ็จ‹ๅบฆใจๆŽจๆธฌใ•ใ‚ŒใŸใ€‚"@ja ; + dcterms:identifier "NANDO:1200918" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alagille syndrome"@en, "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "AGS"@en, "Alagille็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007318 ; skos:prefLabel "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค"@ja . -:1200919 - :hasNotificationNumber "297" ; - terms:identifier "1200919" ; - terms:source ; - a owl:Class ; - rdfs:label "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . - -:1200920 - :hasNotificationNumber "297" ; - terms:identifier "1200920" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical Alagille Syndrome"@en, "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "297" ; + dcterms:identifier "NANDO:1200919" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Typical Alagille syndrome"@en, "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใฆใ‚“ใ‘ใ„ใ‚Œใ„"@ja-Hira, "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007318 ; + skos:prefLabel "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคๅ…ธๅž‹ไพ‹"@ja . + + + nando:hasNotificationNumber "297" ; + dcterms:identifier "NANDO:1200920" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical Alagille Syndrome"@en, "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใฒใฆใ‚“ใ‘ใ„ใ‚Œใ„"@ja-Hira, "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค้žๅ…ธๅž‹ไพ‹"@ja . -:1200921 - :hasNotificationNumber "298" ; - terms:description "้บไผๆ€ง่†ต็‚Žใจใฏใ€้บไผใซใ‚ˆใ‚Šๆ…ขๆ€ง่†ต็‚ŽใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚้บไผๆ€ง่†ต็‚Žใฎๅฎš็พฉใจใ—ใฆGrossใฏใ€โ‘ ่ก€็ธ่€…ใซ๏ผ“ไบบไปฅไธŠใฎ่†ต็‚Ž็—‡ไพ‹ใ‚’่ชใ‚ใ€โ‘ก่‹ฅๅนด็™บ็—‡ใ€โ‘ขๅคง้‡้ฃฒ้…’ใชใฉๆ…ขๆ€ง่†ต็‚Žใฎๆˆๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒ่ชใ‚ใ‚‰ใ‚Œใšใ€โ‘ฃ๏ผ’ไธ–ไปฃไปฅไธŠใงๆ‚ฃ่€…ใŒ็™บ็”Ÿใ—ใฆใ„ใ‚‹ใ“ใจใ‚’ๆŒ™ใ’ใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๅฐ‘ๅญๅŒ–ใซไผดใ„ๆ˜Ž็ขบใชๅฎถๆ—ๆญดใ‚’ๅพ—ใ‚‹ใ“ใจใŒๅ›ฐ้›ฃใชใŸใ‚ใ€ๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง่†ต็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใฎ็ญ–ๅฎšใ—ใŸ่‡จๅบŠ่จบๆ–ญๅŸบๆบ–ใซๅŸบใฅใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200921" ; - terms:source ; + + nando:hasNotificationNumber "298" ; + dcterms:description "้บไผๆ€ง่†ต็‚Žใจใฏใ€้บไผใซใ‚ˆใ‚Šๆ…ขๆ€ง่†ต็‚ŽใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚้บไผๆ€ง่†ต็‚Žใฎๅฎš็พฉใจใ—ใฆGrossใฏใ€โ‘ ่ก€็ธ่€…ใซ๏ผ“ไบบไปฅไธŠใฎ่†ต็‚Ž็—‡ไพ‹ใ‚’่ชใ‚ใ€โ‘ก่‹ฅๅนด็™บ็—‡ใ€โ‘ขๅคง้‡้ฃฒ้…’ใชใฉๆ…ขๆ€ง่†ต็‚Žใฎๆˆๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒ่ชใ‚ใ‚‰ใ‚Œใšใ€โ‘ฃ๏ผ’ไธ–ไปฃไปฅไธŠใงๆ‚ฃ่€…ใŒ็™บ็”Ÿใ—ใฆใ„ใ‚‹ใ“ใจใ‚’ๆŒ™ใ’ใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๅฐ‘ๅญๅŒ–ใซไผดใ„ๆ˜Ž็ขบใชๅฎถๆ—ๆญดใ‚’ๅพ—ใ‚‹ใ“ใจใŒๅ›ฐ้›ฃใชใŸใ‚ใ€ๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง่†ต็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถ็ญใฎ็ญ–ๅฎšใ—ใŸ่‡จๅบŠ่จบๆ–ญๅŸบๆบ–ใซๅŸบใฅใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200921" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary pancreatitis"@en, "้บไผๆ€ง่†ต็‚Ž"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008185 ; + rdfs:label "Hereditary pancreatitis"@en, "ใ„ใงใ‚“ใ›ใ„ใ™ใ„ใˆใ‚“"@ja-Hira, "้บไผๆ€ง่†ต็‚Ž"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008185 ; skos:prefLabel "้บไผๆ€ง่†ต็‚Ž"@ja . -:1200922 - :hasNotificationNumber "299" ; - terms:description "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡๏ผˆ่†ตๅ›Š่ƒž็ทš็ถญ็—‡cystic fibrosis๏ผšCFใ€ใ‚ทใ‚นใƒ†ใ‚ฃใƒƒใ‚ฏใƒปใƒ•ใ‚กใ‚คใƒ–ใƒญใƒผใ‚ทใ‚น๏ผ‰ใฏใ€cystic fibrosis transmembrane conductance regulator๏ผˆCFTR๏ผ‰ใ‚’ๅŽŸๅ› ๅˆ†ๅญใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฐ—้“ๅ†…ๆถฒใ€่…ธ็ฎกๅ†…ๆถฒใ€่†ตๆถฒใชใฉๅ…จ่บซใฎๅˆ†ๆณŒๆถฒ๏ผ็ฒ˜ๆถฒใŒ่‘—ใ—ใ็ฒ˜็จ ใจใชใ‚Šใ€็ฎก่…”ใŒ้–‰ๅกžใ—ๆ„ŸๆŸ“ใ—ๆ˜“ใใชใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช็—‡ไพ‹ใงใฏใ€่ƒŽไพฟๆ€งใ‚คใƒฌใ‚ฆใ‚นใ‚’่ตทใ“ใ—ใ€่†ต่‡“ใŒ่Ž็ธฎใ—ใฆ่†ตๅค–ๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚’ๆฅใŸใ—ใ€ๅ‘ผๅธๅ™จๆ„ŸๆŸ“ใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ๆฑ—ไธญใฎๅกฉๅŒ–็‰ฉใ‚คใ‚ชใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใฏ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚Šใ€่จบๆ–ญใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200922" ; - terms:source ; + + nando:hasNotificationNumber "299" ; + dcterms:description "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡๏ผˆ่†ตๅ›Š่ƒž็ทš็ถญ็—‡cystic fibrosis๏ผšCFใ€ใ‚ทใ‚นใƒ†ใ‚ฃใƒƒใ‚ฏใƒปใƒ•ใ‚กใ‚คใƒ–ใƒญใƒผใ‚ทใ‚น๏ผ‰ใฏใ€cystic fibrosis transmembrane conductance regulator๏ผˆCFTR๏ผ‰ใ‚’ๅŽŸๅ› ๅˆ†ๅญใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฐ—้“ๅ†…ๆถฒใ€่…ธ็ฎกๅ†…ๆถฒใ€่†ตๆถฒใชใฉๅ…จ่บซใฎๅˆ†ๆณŒๆถฒ๏ผ็ฒ˜ๆถฒใŒ่‘—ใ—ใ็ฒ˜็จ ใจใชใ‚Šใ€็ฎก่…”ใŒ้–‰ๅกžใ—ๆ„ŸๆŸ“ใ—ๆ˜“ใใชใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช็—‡ไพ‹ใงใฏใ€่ƒŽไพฟๆ€งใ‚คใƒฌใ‚ฆใ‚นใ‚’่ตทใ“ใ—ใ€่†ต่‡“ใŒ่Ž็ธฎใ—ใฆ่†ตๅค–ๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ๆถˆๅŒ–ๅธๅŽไธ่‰ฏใ‚’ๆฅใŸใ—ใ€ๅ‘ผๅธๅ™จๆ„ŸๆŸ“ใ‚’็นฐใ‚Š่ฟ”ใ—ใฆๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚ๆฑ—ไธญใฎๅกฉๅŒ–็‰ฉใ‚คใ‚ชใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใฏ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚Šใ€่จบๆ–ญใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200922" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cystic fibrosis"@en, "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009061 ; + rdfs:label "Cystic fibrosis"@en, "ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CF"@en ; + skos:closeMatch obo:MONDO_0009061 ; skos:prefLabel "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja . -:1200923 - :hasNotificationNumber "300" ; - terms:description "ๆœฌ้‚ฆใ‚ˆใ‚Š็™บไฟกใ•ใ‚ŒใŸๆ–ฐใ—ใ„ๆฆ‚ๅฟตใจใ—ใฆๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ็•ฐๅธธใ‚„่ก€ไธญIgG4้ซ˜ๅ€คใซๅŠ ใˆใ€ใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ่‘—ใ—ใ„ๆตธๆฝคใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚Šใ€ๅŒๆ™‚ๆ€งใ‚ใ‚‹ใ„ใฏ็•ฐๆ™‚ๆ€งใซๅ…จ่บซ่ซธ่‡“ๅ™จใฎ่…ซๅคงใ‚„็ต็ฏ€ใƒป่‚ฅๅŽšๆ€ง็—…ๅค‰ใชใฉใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฝนๆ‚ฃ่‡“ๅ™จใจใ—ใฆใฏ่†ต่‡“ใ€่ƒ†็ฎกใ€ๆถ™่…บใƒปๅ”พๆถฒ่…บใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็”ฒ็Šถ่…บใ€่‚บใ€่‚่‡“ใ€ๆถˆๅŒ–็ฎกใ€่…Ž่‡“ใ€ๅ‰็ซ‹่…บใ€ๅพŒ่…น่†œใ€ๅ‹•่„ˆใ€ใƒชใƒณใƒ‘็ฏ€ใ€็šฎ่†šใ€ไนณ่…บใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅค‰ใŒ่ค‡ๆ•ฐ่‡“ๅ™จใซๅŠใณๅ…จ่บซ็–พๆ‚ฃใจใ—ใฆใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅ˜ไธ€่‡“ๅ™จ็—…ๅค‰ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใ‚„ๆถ™่…บๅ”พๆถฒ่…บ็‚Ž๏ผˆใƒŸใ‚ฏใƒชใƒƒใƒ„็—…๏ผ‰ใชใฉใŒๅ…ธๅž‹็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏ่†ต็™Œใ‚„่ƒ†็ฎก็™Œใจ่ชค่จบใ•ใ‚Œใ€ๅค–็ง‘็š„ๆ‰‹่ก“ใ‚’ๅ—ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏๅ„่‡“ๅ™จ็—…ๅค‰ใซใ‚ˆใ‚Š็•ฐใชใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡“ๅ™จ่…ซๅคงใ€่‚ฅๅŽšใซใ‚ˆใ‚‹้–‰ๅกžใ€ๅœง่ฟซ็—‡็Šถใ‚„็ดฐ่ƒžๆตธๆฝคใ€็ทš็ถญๅŒ–ใซไผดใ†่‡“ๅ™จๆฉŸ่ƒฝไธๅ…จใชใฉๆ™‚ใซ้‡็ฏคใชๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใŒ็ฌฌไธ€้ธๆŠžใจใชใ‚‹ใŒใ€ๆธ›้‡ใ€ไธญๆ–ญใซใ‚ˆใฃใฆๅคšใใฎไพ‹ใงๅ†็™บใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200923" ; + + nando:hasNotificationNumber "300" ; + dcterms:description "ๆœฌ้‚ฆใ‚ˆใ‚Š็™บไฟกใ•ใ‚ŒใŸๆ–ฐใ—ใ„ๆฆ‚ๅฟตใจใ—ใฆๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ็•ฐๅธธใ‚„่ก€ไธญIgG4้ซ˜ๅ€คใซๅŠ ใˆใ€ใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ่‘—ใ—ใ„ๆตธๆฝคใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚Šใ€ๅŒๆ™‚ๆ€งใ‚ใ‚‹ใ„ใฏ็•ฐๆ™‚ๆ€งใซๅ…จ่บซ่ซธ่‡“ๅ™จใฎ่…ซๅคงใ‚„็ต็ฏ€ใƒป่‚ฅๅŽšๆ€ง็—…ๅค‰ใชใฉใ‚’่ชใ‚ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ฝนๆ‚ฃ่‡“ๅ™จใจใ—ใฆใฏ่†ต่‡“ใ€่ƒ†็ฎกใ€ๆถ™่…บใƒปๅ”พๆถฒ่…บใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็”ฒ็Šถ่…บใ€่‚บใ€่‚่‡“ใ€ๆถˆๅŒ–็ฎกใ€่…Ž่‡“ใ€ๅ‰็ซ‹่…บใ€ๅพŒ่…น่†œใ€ๅ‹•่„ˆใ€ใƒชใƒณใƒ‘็ฏ€ใ€็šฎ่†šใ€ไนณ่…บใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—…ๅค‰ใŒ่ค‡ๆ•ฐ่‡“ๅ™จใซๅŠใณๅ…จ่บซ็–พๆ‚ฃใจใ—ใฆใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅ˜ไธ€่‡“ๅ™จ็—…ๅค‰ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใ‚„ๆถ™่…บๅ”พๆถฒ่…บ็‚Ž๏ผˆใƒŸใ‚ฏใƒชใƒƒใƒ„็—…๏ผ‰ใชใฉใŒๅ…ธๅž‹็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นใซใ€่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏ่†ต็™Œใ‚„่ƒ†็ฎก็™Œใจ่ชค่จบใ•ใ‚Œใ€ๅค–็ง‘็š„ๆ‰‹่ก“ใ‚’ๅ—ใ‘ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏๅ„่‡“ๅ™จ็—…ๅค‰ใซใ‚ˆใ‚Š็•ฐใชใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡“ๅ™จ่…ซๅคงใ€่‚ฅๅŽšใซใ‚ˆใ‚‹้–‰ๅกžใ€ๅœง่ฟซ็—‡็Šถใ‚„็ดฐ่ƒžๆตธๆฝคใ€็ทš็ถญๅŒ–ใซไผดใ†่‡“ๅ™จๆฉŸ่ƒฝไธๅ…จใชใฉๆ™‚ใซ้‡็ฏคใชๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใŒ็ฌฌไธ€้ธๆŠžใจใชใ‚‹ใŒใ€ๆธ›้‡ใ€ไธญๆ–ญใซใ‚ˆใฃใฆๅคšใใฎไพ‹ใงๅ†็™บใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200923" ; a owl:Class ; - rdfs:label "IgG4-related disease"@en, "IgG4้–ข้€ฃ็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017287 ; + rdfs:label "IgG4-related disease"@en, "IgG4้–ข้€ฃ็–พๆ‚ฃ"@ja, "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IgG4-RD"@en ; + skos:closeMatch obo:MONDO_0017287 ; skos:prefLabel "IgG4้–ข้€ฃ็–พๆ‚ฃ"@ja . -:1200924 - :hasNotificationNumber "300" ; - terms:identifier "1200924" ; - terms:source ; + + nando:hasNotificationNumber "300" ; + dcterms:identifier "NANDO:1200924" ; + dcterms:source ; a owl:Class ; - rdfs:label "IgG4-related disease"@en, "IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017287 ; + rdfs:label "IgG4-related disease"@en, "IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ"@ja, "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“ใปใ†ใ‹ใค"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IgG4-RD"@en ; + skos:closeMatch obo:MONDO_0017287 ; skos:prefLabel "IgG4้–ข้€ฃ็–พๆ‚ฃๅŒ…ๆ‹ฌ"@ja . -:1200925 - :hasNotificationNumber "300" ; - terms:identifier "1200925" ; - terms:source ; + + nando:hasNotificationNumber "300" ; + dcterms:identifier "NANDO:1200925" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune pancreatitis"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015175 ; + rdfs:label "Autoimmune pancreatitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015175 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja . -:1200926 - :hasNotificationNumber "300" ; - terms:identifier "1200926" ; - terms:source ; + + nando:hasNotificationNumber "300" ; + dcterms:identifier "NANDO:1200926" ; + dcterms:source ; a owl:Class ; - rdfs:label "diffuse-typeย autoimmune pancreatitis"@en, "ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Diffuse-type autoimmune pancreatitis"@en, "ใณใพใ‚“ใŒใŸใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“"@ja-Hira, "ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ใณใพใ‚“ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja . -:1200927 - :hasNotificationNumber "300" ; - terms:identifier "1200927" ; - terms:source ; + + nando:hasNotificationNumber "300" ; + dcterms:identifier "NANDO:1200927" ; + dcterms:source ; a owl:Class ; - rdfs:label "focal-type autoimmune pancreatitis"@en, "้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Focal-type autoimmune pancreatitis"@en, "ใ’ใ‚“ใใ‚‡ใใŒใŸใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“"@ja-Hira, "้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "้™ๅฑ€ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja . -:1200928 - :hasNotificationNumber "300" ; - terms:identifier "1200928" ; - terms:source ; + + nando:hasNotificationNumber "300" ; + dcterms:identifier "NANDO:1200928" ; + dcterms:source ; a owl:Class ; - rdfs:label "IgG4-related sclerosing cholangitis"@en, "IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018645 ; + rdfs:label "IgG4-related sclerosing cholangitis"@en, "IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja, "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IgG4-SC"@en ; + skos:closeMatch obo:MONDO_0018645 ; skos:prefLabel "IgG4้–ข้€ฃ็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja . -:1200929 - :hasNotificationNumber "300" ; - terms:identifier "1200929" ; - terms:source ; + + nando:hasNotificationNumber "300" ; + dcterms:identifier "NANDO:1200929" ; + dcterms:source ; a owl:Class ; - rdfs:label "IgG4 related dacryoadenitis and sialadenitis"@en, "IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019191 ; + rdfs:label "IgG4-related dacryoadenitis and sialadenitis"@en, "IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰"@ja, "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ‚‹ใ„ใ›ใ‚“ใƒปใŒใ‚“ใ‹ใŠใ‚ˆใณใ ใˆใใ›ใ‚“ใณใ‚‡ใ†ใธใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IgG4-DS"@en ; + skos:closeMatch obo:MONDO_0019191 ; skos:prefLabel "IgG4้–ข้€ฃๆถ™่…บใƒป็œผ็ชฉใŠใ‚ˆใณๅ”พๆถฒ่…บ็—…ๅค‰"@ja . -:1200930 - :hasNotificationNumber "300" ; - terms:identifier "1200930" ; - terms:source ; + + nando:hasNotificationNumber "300" ; + dcterms:identifier "NANDO:1200930" ; + dcterms:source ; a owl:Class ; - rdfs:label "IgG4-related kidney disease"@en, "IgG4้–ข้€ฃ่…Ž่‡“็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018671 ; + rdfs:label "IgG4-related kidney disease"@en, "IgG4้–ข้€ฃ่…Ž่‡“็—…"@ja, "ใ‚ใ„ใ˜ใƒผใ˜ใƒผ4ใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใžใ†ใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IgG4-RKD"@en ; + skos:closeMatch obo:MONDO_0018671 ; skos:prefLabel "IgG4้–ข้€ฃ่…Ž่‡“็—…"@ja . -:1200931 - :hasNotificationNumber "301" ; - terms:description "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆmacular dystrophy๏ผ‰ใฏ็œผๅบ•ใฎ้ป„ๆ–‘้ƒจใซไธก็œผๆ€งใ€้€ฒ่กŒๆ€งใฎ็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆdystrophy๏ผ‰ใจใฏใ€้ž็‚Ž็—‡ๆ€งใ€้€ฒ่กŒๆ€งใฎๆ „้คŠไธŠใ‚ใ‚‹ใ„ใฏไปฃ่ฌไธŠใฎ็•ฐๅธธใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏใ€ไฝ•ใ‚‰ใ‹ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ้ป„ๆ–‘้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ่จบๆ–ญใซใฏใ€๏ผˆ๏ผ‘๏ผ‰ๅŸบๆœฌ็š„ใซไธก็œผๆ€งใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ’๏ผ‰ๅฎถๆ—ๆ€งใ€้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ“๏ผ‰ใชใ‚“ใ‚‰ๅค–ๅ› ใŒๅŠ ใ‚ใ‚‹ใ“ใจใชใ—ใซ็™บ็”Ÿใ™ใ‚‹ใ€‚๏ผˆ๏ผ”๏ผ‰ไป–่ฆš็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€่‡ช่ฆš็š„ๆฉŸ่ƒฝๆคœๆŸปๆ‰€่ฆ‹ใ€ใ„ใšใ‚Œใ‹ใ‚‰ใฟใฆใ‚‚ๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ๏ผ”ใคใฎ้ …็›ฎใ‚’ๆบ€ใŸใ™๏ผˆๅŽš็”Ÿ็œ็‰นๆ€ง็–พๆ‚ฃ็ถฒ่†œ่„ˆ็ตก่†œ่Ž็ธฎ็—‡่ชฟๆŸป็ ”็ฉถ็ญใ€€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ่จบๆ–ญใฎๆ‰‹ๅผ•ใใ‚’ๅ‚็…ง๏ผ‰ใ€‚ใชใŠ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็‹ญ็พฉใซใฏ็—…ๅค‰ใŒ้ป„ๆ–‘้ƒจใซ้™ๅฑ€ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใŒใ€ๅคšใใฎ็—…ๅž‹ใซใŠใ„ใฆ็—…ๅค‰ใฏ้ป„ๆ–‘้ƒจใ‹ใ‚‰ๅพŒๆฅต้ƒจใซๅบƒใŒใ‚Šใ€ใจใใซๅ‘จ่พบ้ƒจ็ถฒ่†œใพใงๅŠใถใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200931" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:description "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆmacular dystrophy๏ผ‰ใฏ็œผๅบ•ใฎ้ป„ๆ–‘้ƒจใซไธก็œผๆ€งใ€้€ฒ่กŒๆ€งใฎ็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆdystrophy๏ผ‰ใจใฏใ€้ž็‚Ž็—‡ๆ€งใ€้€ฒ่กŒๆ€งใฎๆ „้คŠไธŠใ‚ใ‚‹ใ„ใฏไปฃ่ฌไธŠใฎ็•ฐๅธธใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏใ€ไฝ•ใ‚‰ใ‹ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ้ป„ๆ–‘้ƒจใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไธ€็พคใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ่จบๆ–ญใซใฏใ€๏ผˆ๏ผ‘๏ผ‰ๅŸบๆœฌ็š„ใซไธก็œผๆ€งใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ’๏ผ‰ๅฎถๆ—ๆ€งใ€้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚๏ผˆ๏ผ“๏ผ‰ใชใ‚“ใ‚‰ๅค–ๅ› ใŒๅŠ ใ‚ใ‚‹ใ“ใจใชใ—ใซ็™บ็”Ÿใ™ใ‚‹ใ€‚๏ผˆ๏ผ”๏ผ‰ไป–่ฆš็š„ๆคœๆŸปๆ‰€่ฆ‹ใ€่‡ช่ฆš็š„ๆฉŸ่ƒฝๆคœๆŸปๆ‰€่ฆ‹ใ€ใ„ใšใ‚Œใ‹ใ‚‰ใฟใฆใ‚‚ๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ๏ผ”ใคใฎ้ …็›ฎใ‚’ๆบ€ใŸใ™๏ผˆๅŽš็”Ÿ็œ็‰นๆ€ง็–พๆ‚ฃ็ถฒ่†œ่„ˆ็ตก่†œ่Ž็ธฎ็—‡่ชฟๆŸป็ ”็ฉถ็ญใ€€้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ่จบๆ–ญใฎๆ‰‹ๅผ•ใใ‚’ๅ‚็…ง๏ผ‰ใ€‚ใชใŠ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจใฏ็‹ญ็พฉใซใฏ็—…ๅค‰ใŒ้ป„ๆ–‘้ƒจใซ้™ๅฑ€ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใŒใ€ๅคšใใฎ็—…ๅž‹ใซใŠใ„ใฆ็—…ๅค‰ใฏ้ป„ๆ–‘้ƒจใ‹ใ‚‰ๅพŒๆฅต้ƒจใซๅบƒใŒใ‚Šใ€ใจใใซๅ‘จ่พบ้ƒจ็ถฒ่†œใพใงๅŠใถใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200931" ; + dcterms:source ; a owl:Class ; - rdfs:label "Macular dystrophy"@en, "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Macular dystrophy"@en, "ใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020242 ; skos:prefLabel "้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200932 - :hasNotificationNumber "301" ; - terms:identifier "1200932" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200932" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vitelliform macular dystrophy"@en, "ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Vitelliform macular dystrophy"@en, "ใ‚‰ใ‚“ใŠใ†ใ‚ˆใ†ใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Best vitelliform macular dystrophy"@en, "ใƒ™ใ‚นใƒˆ็—…"@ja ; - skos:closeMatch mondo:MONDO_0000390 ; + skos:closeMatch obo:MONDO_0000390 ; skos:prefLabel "ๅต้ป„ๆง˜้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200933 - :hasNotificationNumber "301" ; - terms:identifier "1200933" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200933" ; + dcterms:source ; a owl:Class ; - rdfs:label "Stargardt disease"@en, "Stargardt็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019353 ; + rdfs:label "Stargardt disease"@en, "Stargardt็—…"@ja, "ใ™ใŸใƒผใŒใ‚‹ใฉใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019353 ; skos:prefLabel "Stargardt็—…"@ja . -:1200934 - :hasNotificationNumber "301" ; - terms:identifier "1200934" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200934" ; + dcterms:source ; a owl:Class ; - rdfs:label "Occult macular dystrophy"@en, "ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013316 ; + rdfs:label "Occult macular dystrophy"@en, "ใŠใ‹ใ‚‹ใจใŠใ†ใฏใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013316 ; skos:prefLabel "ใ‚ชใ‚ซใƒซใƒˆ้ป„ๆ–‘ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200935 - :hasNotificationNumber "301" ; - terms:identifier "1200935" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200935" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cone-rod dystrophy and cone dystrophy"@en, "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Cone-rod dystrophy and cone dystrophy"@en, "ใ™ใ„ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผใ€ใŠใ‚ˆใณใ™ใ„ใŸใ„ใ‹ใ‚“ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ใŠใ‚ˆใณ้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200936 - :hasNotificationNumber "301" ; - terms:identifier "1200936" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200936" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cone dystrophy"@en, "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Cone dystrophy"@en, "ใ™ใ„ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "COD"@en ; - skos:closeMatch mondo:MONDO_0000455 ; + skos:closeMatch obo:MONDO_0000455 ; skos:prefLabel "้Œไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200937 - :hasNotificationNumber "301" ; - terms:identifier "1200937" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200937" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cone-rod dystrophy"@en, "้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Cone-rod dystrophy"@en, "ใ™ใ„ใŸใ„ใ‹ใ‚“ใŸใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CORD"@en ; - skos:closeMatch mondo:MONDO_0007362, mondo:MONDO_0015993 ; + skos:closeMatch obo:MONDO_0015993 ; skos:prefLabel "้Œไฝ“ๆ†ไฝ“ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200938 - :hasNotificationNumber "301" ; - terms:identifier "1200938" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200938" ; + dcterms:source ; a owl:Class ; - rdfs:label "X-linked juvenile retinoschisis"@en, "X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "X-linked juvenile retinoschisis"@en, "X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ‚‚ใ†ใพใใถใ‚“ใ‚Šใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "XๆŸ“่‰ฒไฝ“่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡"@ja ; - skos:closeMatch mondo:MONDO_0010725 ; + skos:closeMatch obo:MONDO_0010725 ; skos:prefLabel "X้€ฃ้Ž–ๆ€ง่‹ฅๅนด็ถฒ่†œๅˆ†้›ข็—‡"@ja . -:1200939 - :hasNotificationNumber "301" ; - terms:identifier "1200939" ; - terms:source ; + + nando:hasNotificationNumber "301" ; + dcterms:identifier "NANDO:1200939" ; + dcterms:source ; a owl:Class ; - rdfs:label "Central areolar choroidal dystrophy"@en, "ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008982 ; + rdfs:label "Central areolar choroidal dystrophy"@en, "ใกใ‚…ใ†ใ—ใ‚“ใ›ใ„ใ‚Šใ‚“ใ‚‚ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚‰ใใพใใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ไธญๅฟƒ่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0004890, obo:MONDO_0008982 ; skos:prefLabel "ไธญๅฟƒๆ€ง่ผช็ด‹็Šถ่„ˆ็ตก่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1200940 - :hasNotificationNumber "302" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้บไผๅญๅค‰็•ฐใŒๆฏ็ณป้บไผๅฝขๅผใ‚’่ฆๅฎšใ—ใ€ไป–ใฎ้บไผๅ› ๅญใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚คใƒƒใ‚ฏไฟฎ้ฃพใ€็’ฐๅขƒๅ› ๅญใŒ็™บ็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนด็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๆฏ็ณป้บไผใฎใŸใ‚ใ€็ฝนๆ‚ฃ็”ทๆ€งใฎๅญๅญซใซใฏๆ‚ฃ่€…ใฏ็พใ‚Œใšใ€็„กๅ…†ๅ€™ๅฅณๆ€งไฟๅ› ่€…ใฎๅญๅญซใซๆ‚ฃ่€…ใŒ็พใ‚Œใ‚‹ใ€‚ไธ€็œผใฎ่ฆ–ๅŠ›ไฝŽไธ‹ใ€ไธญๅฟƒๆš—็‚นใงๅง‹ใพใ‚Šใ€ไธๅฎšๆœŸ้–“ใ‚’ใŠใ„ใฆๅๅฏพ็œผใ‚‚ๅŒๆง˜ใฎ็—‡็Šถใ‚’็คบใ™ใ€‚็ถฒ่†œ็ฅž็ตŒ็ฏ€็ดฐ่ƒžใŒๅค‰ๆ€ง่„ฑ่ฝใ—ใ€ๆ•ฐใ‹ๆœˆใฎใ†ใกใซใ€ไธก็œผใฎ้ซ˜ๅบฆ่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ„ใŸใ‚‹๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›0.1ไปฅไธ‹๏ผ‰ใ€‚"@ja ; - terms:identifier "1200940" ; - terms:source ; - a owl:Class ; - rdfs:label "Leber hereditary optic neuropathy"@en, "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "ใƒฌใƒผใƒ™ใƒซ็—…"@ja ; - skos:closeMatch mondo:MONDO_0010788 ; + + nando:hasNotificationNumber "302" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้บไผๅญๅค‰็•ฐใŒๆฏ็ณป้บไผๅฝขๅผใ‚’่ฆๅฎšใ—ใ€ไป–ใฎ้บไผๅ› ๅญใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚คใƒƒใ‚ฏไฟฎ้ฃพใ€็’ฐๅขƒๅ› ๅญใŒ็™บ็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹่ฆ–็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‹ฅๅนด็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๆฏ็ณป้บไผใฎใŸใ‚ใ€็ฝนๆ‚ฃ็”ทๆ€งใฎๅญๅญซใซใฏๆ‚ฃ่€…ใฏ็พใ‚Œใšใ€็„กๅ…†ๅ€™ๅฅณๆ€งไฟๅ› ่€…ใฎๅญๅญซใซๆ‚ฃ่€…ใŒ็พใ‚Œใ‚‹ใ€‚ไธ€็œผใฎ่ฆ–ๅŠ›ไฝŽไธ‹ใ€ไธญๅฟƒๆš—็‚นใงๅง‹ใพใ‚Šใ€ไธๅฎšๆœŸ้–“ใ‚’ใŠใ„ใฆๅๅฏพ็œผใ‚‚ๅŒๆง˜ใฎ็—‡็Šถใ‚’็คบใ™ใ€‚็ถฒ่†œ็ฅž็ตŒ็ฏ€็ดฐ่ƒžใŒๅค‰ๆ€ง่„ฑ่ฝใ—ใ€ๆ•ฐใ‹ๆœˆใฎใ†ใกใซใ€ไธก็œผใฎ้ซ˜ๅบฆ่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ„ใŸใ‚‹๏ผˆ็Ÿฏๆญฃ่ฆ–ๅŠ›0.1ไปฅไธ‹๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:1200940" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Leber hereditary optic neuropathy"@en, "ใ‚Œใƒผในใ‚‹ใ„ใงใ‚“ใ›ใ„ใ—ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "LHON"@en, "ใƒฌใƒผใƒ™ใƒซ็—…"@ja ; + skos:closeMatch obo:MONDO_0010788 ; skos:prefLabel "ใƒฌใƒผใƒ™ใƒซ้บไผๆ€ง่ฆ–็ฅž็ตŒ็—‡"@ja . -:1200941 - :hasNotificationNumber "303" ; - terms:description "ใ‚ขใƒƒใ‚ทใƒฃใƒผ๏ผˆUsher๏ผ‰็—‡ๅ€™็พคใฏใ€้›ฃ่ดใซ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ‚’ไผดใ†็—‡ๅ€™็พคๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ฃ่ดใฎ็จ‹ๅบฆใฏไธญ็ญ‰ๅบฆ๏ฝž้‡ๅบฆ้›ฃ่ดใพใงใจๅน…ๅบƒใใ€ๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใ‚’ๅ ใ‚ใ‚‹ใ€‚ใพใŸ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€งใฏ้…็™บๆ€งใซ็™บ็—‡ใ—ใ€ๅพใ€…ใซ่ฆ–้‡Ž็‹ญ็ช„ใŒ้€ฒ่กŒใ—ใฆ็คพไผš็š„ๅคฑๆ˜Žใจใชใ‚‹ไพ‹ใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200941" ; - terms:source ; - a owl:Class ; - rdfs:label "Usher syndrome"@en, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019501 ; + + nando:hasNotificationNumber "303" ; + dcterms:description "ใ‚ขใƒƒใ‚ทใƒฃใƒผ๏ผˆUsher๏ผ‰็—‡ๅ€™็พคใฏใ€้›ฃ่ดใซ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ‚’ไผดใ†็—‡ๅ€™็พคๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้›ฃ่ดใฎ็จ‹ๅบฆใฏไธญ็ญ‰ๅบฆ๏ฝž้‡ๅบฆ้›ฃ่ดใพใงใจๅน…ๅบƒใใ€ๅ…ˆๅคฉๆ€งใซ็™บ็—‡ใ™ใ‚‹ไพ‹ใŒใปใจใ‚“ใฉใ‚’ๅ ใ‚ใ‚‹ใ€‚ใพใŸ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€งใฏ้…็™บๆ€งใซ็™บ็—‡ใ—ใ€ๅพใ€…ใซ่ฆ–้‡Ž็‹ญ็ช„ใŒ้€ฒ่กŒใ—ใฆ็คพไผš็š„ๅคฑๆ˜Žใจใชใ‚‹ไพ‹ใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200941" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Usher syndrome"@en, "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Usher็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0019501 ; skos:prefLabel "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค"@ja . -:1200942 - :hasNotificationNumber "303" ; - terms:identifier "1200942" ; - terms:source ; + + nando:hasNotificationNumber "303" ; + dcterms:identifier "NANDO:1200942" ; + dcterms:source ; a owl:Class ; - rdfs:label "Usher Syndrome Type I"@en, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010168 ; + rdfs:label "Usher syndrome type I"@en, "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“1ใŒใŸ"@ja-Hira, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010168 ; skos:prefLabel "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ‘ๅž‹"@ja . -:1200943 - :hasNotificationNumber "303" ; - terms:identifier "1200943" ; - terms:source ; + + nando:hasNotificationNumber "303" ; + dcterms:identifier "NANDO:1200943" ; + dcterms:source ; a owl:Class ; - rdfs:label "Usher Syndrome Type II"@en, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016484 ; + rdfs:label "Usher syndrome Type II"@en, "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ"@ja-Hira, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016484 ; skos:prefLabel "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ’ๅž‹"@ja . -:1200944 - :hasNotificationNumber "303" ; - terms:identifier "1200944" ; - terms:source ; + + nando:hasNotificationNumber "303" ; + dcterms:identifier "NANDO:1200944" ; + dcterms:source ; a owl:Class ; - rdfs:label "Usher Syndrome Type III"@en, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010170, mondo:MONDO_0016485 ; + rdfs:label "Usher syndrome Type III"@en, "ใ‚ใฃใ—ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“3ใŒใŸ"@ja-Hira, "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016485 ; skos:prefLabel "ใ‚ขใƒƒใ‚ทใƒฃใƒผ็—‡ๅ€™็พค๏ผ“ๅž‹"@ja . -:1200945 - :hasNotificationNumber "304" ; - terms:description "่‹ฅๅนด๏ผˆ40ๆญณๆœชๆบ€๏ผ‰ใง็™บ็—‡ใ™ใ‚‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ‚’ใ•ใ™ใ€‚ๅพ“ๆฅใ‹ใ‚‰ๅŽŸๅ› ไธๆ˜Žใฎๆ„Ÿ้Ÿณ้›ฃ่ดใฎใ†ใกใ€ไธกๅดๆ€งใซ้›ฃ่ดใŒ้€ฒ่กŒใ™ใ‚‹็–พๆ‚ฃใ‚’ใ€Œ็‰น็™บๆ€งไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ€ใจใ—ใฆใใŸใŒใ€่€ไบบๆ€ง้›ฃ่ดใจใฎ้‘‘ๅˆฅใŒๅฟ…ใšใ—ใ‚‚ๅฎนๆ˜“ใงใฏใชใ‹ใฃใŸใ€‚ใใ“ใงๆญฃ็ขบใซ้‘‘ๅˆฅ่จบๆ–ญใŒ่กŒใˆใ‚‹ใ‚ˆใ†ๅนด้ฝข่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ้…็™บๆ€ง้›ฃ่ดใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ€ๆ—ข็Ÿฅใฎๅค–็š„ๅ› ๅญใ€ไพ‹ใˆใฐ้จ’้Ÿณใ€ๅค–ๅ‚ทใ€่–ฌๅ‰คใ€ๆ€ฅๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏ้™คใใจใ„ใ†้™คๅค–่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚่ฟ‘ๅนดใ€้บไผๅญใจใฎ้–ข้€ฃใŒๅฐ‘ใ—ใšใคๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใใฆใ„ใ‚‹ใŒ็—…ๆ…‹่งฃๆ˜Žใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ๅพŒๅคฉ็š„ใซ็™บ็—‡ใ€้€ฒ่กŒใ—ไธกๅด้‡ๅบฆ้›ฃ่ดใƒปใ‚ใ†ใจใชใ‚‹ไพ‹ใชใฉๆง˜ใ€…ใช็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ่จ€่ชž็™บ้”ใ‚„ๆ•™่‚ฒใฎใปใ‹็คพไผš็”Ÿๆดปใ‚„ๆ—ฅๅธธ็”Ÿๆดปใซๅคงใใชๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ใพใŸๆฒป็™‚ๆณ•ใŒๆœช็ขบ็ซ‹ใงใ‚ใ‚Š้•ทๆœŸ็š„ใช็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใฎ่งฃๆ˜Žใ‚„ๆฒป็™‚ๆณ•ใฎ้–‹็™บใฏ้‡่ฆใช่ชฒ้กŒใงใ‚ใ‚‹ใ€‚่จบๆ–ญๅŸบๆบ–ใซใ‚‚ใจใฅใ„ใŸๆ‚ฃ่€…ๆ•ฐใฏๅคšใใชใ„ใ€‚"@ja ; - terms:identifier "1200945" ; - terms:source ; + + nando:hasNotificationNumber "304" ; + dcterms:description "่‹ฅๅนด๏ผˆ40ๆญณๆœชๆบ€๏ผ‰ใง็™บ็—‡ใ™ใ‚‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ‚’ใ•ใ™ใ€‚ๅพ“ๆฅใ‹ใ‚‰ๅŽŸๅ› ไธๆ˜Žใฎๆ„Ÿ้Ÿณ้›ฃ่ดใฎใ†ใกใ€ไธกๅดๆ€งใซ้›ฃ่ดใŒ้€ฒ่กŒใ™ใ‚‹็–พๆ‚ฃใ‚’ใ€Œ็‰น็™บๆ€งไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ดใ€ใจใ—ใฆใใŸใŒใ€่€ไบบๆ€ง้›ฃ่ดใจใฎ้‘‘ๅˆฅใŒๅฟ…ใšใ—ใ‚‚ๅฎนๆ˜“ใงใฏใชใ‹ใฃใŸใ€‚ใใ“ใงๆญฃ็ขบใซ้‘‘ๅˆฅ่จบๆ–ญใŒ่กŒใˆใ‚‹ใ‚ˆใ†ๅนด้ฝข่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ้…็™บๆ€ง้›ฃ่ดใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ€ๆ—ข็Ÿฅใฎๅค–็š„ๅ› ๅญใ€ไพ‹ใˆใฐ้จ’้Ÿณใ€ๅค–ๅ‚ทใ€่–ฌๅ‰คใ€ๆ€ฅๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏ้™คใใจใ„ใ†้™คๅค–่ฆไปถใŒๅŠ ใˆใ‚‰ใ‚ŒใŸใ€‚่ฟ‘ๅนดใ€้บไผๅญใจใฎ้–ข้€ฃใŒๅฐ‘ใ—ใšใคๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใใฆใ„ใ‚‹ใŒ็—…ๆ…‹่งฃๆ˜Žใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚ๅพŒๅคฉ็š„ใซ็™บ็—‡ใ€้€ฒ่กŒใ—ไธกๅด้‡ๅบฆ้›ฃ่ดใƒปใ‚ใ†ใจใชใ‚‹ไพ‹ใชใฉๆง˜ใ€…ใช็ตŒ้Žใ‚’ใจใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏ่จ€่ชž็™บ้”ใ‚„ๆ•™่‚ฒใฎใปใ‹็คพไผš็”Ÿๆดปใ‚„ๆ—ฅๅธธ็”Ÿๆดปใซๅคงใใชๆ”ฏ้šœใ‚’ๆฅใ™ใ€‚ใพใŸๆฒป็™‚ๆณ•ใŒๆœช็ขบ็ซ‹ใงใ‚ใ‚Š้•ทๆœŸ็š„ใช็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใฎ่งฃๆ˜Žใ‚„ๆฒป็™‚ๆณ•ใฎ้–‹็™บใฏ้‡่ฆใช่ชฒ้กŒใงใ‚ใ‚‹ใ€‚่จบๆ–ญๅŸบๆบ–ใซใ‚‚ใจใฅใ„ใŸๆ‚ฃ่€…ๆ•ฐใฏๅคšใใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200945" ; + dcterms:source ; a owl:Class ; - rdfs:label "Juvenile Bilateral Sensorineural Hearing Loss"@en, "่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Juvenile bilateral sensorineural hearing loss"@en, "ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚Šใ‚‡ใ†ใใใ›ใ„ใ‹ใ‚“ใŠใ‚“ใชใ‚“ใกใ‚‡ใ†"@ja-Hira, "่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Juvenile-onset bilateral sensorineural hearing loss"@en ; skos:prefLabel "่‹ฅๅนด็™บ็—‡ๅž‹ไธกๅดๆ€งๆ„Ÿ้Ÿณ้›ฃ่ด"@ja . -:1200946 - :hasNotificationNumber "305" ; - terms:description "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใจใฏใ€้™ณๆ—งๆ€ง้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใฎ้…็™บๆ€ง็ถš็™บ็—‡ใจใ—ใฆๅ†…่€ณใซๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใŒ็”Ÿใ˜ใ€ใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ๅ†…่€ณๆ€งใ‚ใพใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡่€ณๅˆใฏไธก่€ณใฎ้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใŒๅ…ˆ่กŒใ—ใ€ๆ•ฐๅนดใ‹ใ‚‰ๆ•ฐๅๅนดใฎๅพŒใซใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ใŒใ€้›ฃ่ดใฏๅค‰ๅ‹•ใ—ใชใ„ใ€‚"@ja ; - terms:identifier "1200946" ; - terms:source ; + + nando:hasNotificationNumber "305" ; + dcterms:description "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใจใฏใ€้™ณๆ—งๆ€ง้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใฎ้…็™บๆ€ง็ถš็™บ็—‡ใจใ—ใฆๅ†…่€ณใซๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซใŒ็”Ÿใ˜ใ€ใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ๅ†…่€ณๆ€งใ‚ใพใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡่€ณๅˆใฏไธก่€ณใฎ้ซ˜ๅบฆๆ„Ÿ้Ÿณ้›ฃ่ดใŒๅ…ˆ่กŒใ—ใ€ๆ•ฐๅนดใ‹ใ‚‰ๆ•ฐๅๅนดใฎๅพŒใซใ‚ใพใ„็™บไฝœใ‚’ๅๅพฉใ™ใ‚‹ใŒใ€้›ฃ่ดใฏๅค‰ๅ‹•ใ—ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200946" ; + dcterms:source ; a owl:Class ; - rdfs:label "Delayed endolymphatic hydrops"@en, "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Delayed endolymphatic hydrops"@en, "ใกใฏใคใ›ใ„ใชใ„ใ‚Šใ‚“ใฑใ™ใ„ใ—ใ‚…"@ja-Hira, "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "้…็™บๆ€งๅ†…ใƒชใƒณใƒ‘ๆฐด่…ซ"@ja . -:1200947 - :hasNotificationNumber "306" ; - terms:description "ไธกๅดใฎๅคš็™บๆ€ง้ผป่Œธใจ็ฒ˜่ชฟใช้ผปๆฑใซใ‚ˆใ‚Šใ€้ซ˜ๅบฆใฎ้ผป้–‰ใจๅ—…่ฆš้šœๅฎณใ‚’็คบใ™ใ€ๆˆไบบ็™บ็—‡ใฎ้›ฃๆฒปๆ€งๅ‰ฏ้ผป่…”็‚Žใงใ‚ใ‚‹ใ€‚ๆŠ—่Œ่–ฌใฏ็„กๅŠนใงใ‚ใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๅ†…ๆœใซใฎใฟๅๅฟœใ™ใ‚‹ใ€‚้ผป่…”ๅ†…ใซ้ผป่ŒธใŒๅ……ๆบ€ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€้ผปๅ‰ฏ้ผป่…”ๆ‰‹่ก“ใง้ผป่Œธใฎๆ‘˜ๅ‡บใ‚’่กŒใ†ใŒใ€ใ™ใใซๅ†็™บใ™ใ‚‹ใ€‚้ผป้–‰ใจๅ—…ไธŠ็šฎใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ—…่ฆšใฏๆถˆๅคฑใ™ใ‚‹ใ€‚ๅ—…่ฆš้šœๅฎณใฎใŸใ‚้ขจๅ‘ณ้šœๅฎณใ‚’ๅซใ‚ใŸๅ‘ณ่ฆš้šœๅฎณใ‚’ๆฅใ™ใ€‚ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใ‚นใƒ”ใƒชใƒณๅ–˜ๆฏ๏ผˆใ‚ขใ‚นใƒ”ใƒชใƒณไธ่€็—‡๏ผ‰ใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚้ผป้–‰ใฎใŸใ‚ใฎๅฃๅ‘ผๅธใŒๅ–˜ๆฏ็™บไฝœใ‚’่ช˜็™บใ—ใ€่‘—ใ—ใ„ๅ‘ผๅธ้šœๅฎณใ‚’่ตทใ“ใ™ใ€‚ใพใŸไธญ่€ณ็‚Žใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅฅฝ้…ธ็ƒๆ€งไธญ่€ณ็‚Žใจๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎไธญ่€ณ็‚Žใฏใ€้›ฃๆฒปๆ€งใง่ดๅŠ›้šœๅฎณใฏ้€ฒ่กŒใ—ใ€่พใซ่‡ณใ‚‹ใ€‚้ผป็ฒ˜่†œใซใฏๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŒใ€ไธญ่€ณ็‚Žใ‚’ไผดใ†ใจ่€ณๆผใซใ‚‚ๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใฏใ€ๆœฌ็–พๆ‚ฃใŒ่‰ฏๆ€ง็–พๆ‚ฃใฎใŸใ‚ใ€ไธปๆฒปๅŒปใฏ็ถ™็ถšไฝฟ็”จใซใŸใ‚ใ‚‰ใ„ใ‚’ๆ„Ÿใ˜ใ€ๆ•ฐใ‹ๆœˆใงๆŠ•ไธŽใ‚’ไธญๆญขใ™ใ‚‹ใจๅข—ๆ‚ชใ‚’ใ™ใ‚‹ใ€‚ไธŠๆฐ—้“ๆ„ŸๆŸ“ใซใ‚ˆใฃใฆใ‚‚็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹ใŸใ‚ๅ†ๅบฆ็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใ‚’ๆŠ•ไธŽใ›ใ–ใ‚‹ใ‚’ๅพ—ใชใ„็Šถๆณใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200947" ; - terms:source ; + + nando:hasNotificationNumber "306" ; + dcterms:description "ไธกๅดใฎๅคš็™บๆ€ง้ผป่Œธใจ็ฒ˜่ชฟใช้ผปๆฑใซใ‚ˆใ‚Šใ€้ซ˜ๅบฆใฎ้ผป้–‰ใจๅ—…่ฆš้šœๅฎณใ‚’็คบใ™ใ€ๆˆไบบ็™บ็—‡ใฎ้›ฃๆฒปๆ€งๅ‰ฏ้ผป่…”็‚Žใงใ‚ใ‚‹ใ€‚ๆŠ—่Œ่–ฌใฏ็„กๅŠนใงใ‚ใ‚Šใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๅ†…ๆœใซใฎใฟๅๅฟœใ™ใ‚‹ใ€‚้ผป่…”ๅ†…ใซ้ผป่ŒธใŒๅ……ๆบ€ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€้ผปๅ‰ฏ้ผป่…”ๆ‰‹่ก“ใง้ผป่Œธใฎๆ‘˜ๅ‡บใ‚’่กŒใ†ใŒใ€ใ™ใใซๅ†็™บใ™ใ‚‹ใ€‚้ผป้–‰ใจๅ—…ไธŠ็šฎใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ—…่ฆšใฏๆถˆๅคฑใ™ใ‚‹ใ€‚ๅ—…่ฆš้šœๅฎณใฎใŸใ‚้ขจๅ‘ณ้šœๅฎณใ‚’ๅซใ‚ใŸๅ‘ณ่ฆš้šœๅฎณใ‚’ๆฅใ™ใ€‚ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ€ใ‚ขใ‚นใƒ”ใƒชใƒณๅ–˜ๆฏ๏ผˆใ‚ขใ‚นใƒ”ใƒชใƒณไธ่€็—‡๏ผ‰ใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚้ผป้–‰ใฎใŸใ‚ใฎๅฃๅ‘ผๅธใŒๅ–˜ๆฏ็™บไฝœใ‚’่ช˜็™บใ—ใ€่‘—ใ—ใ„ๅ‘ผๅธ้šœๅฎณใ‚’่ตทใ“ใ™ใ€‚ใพใŸไธญ่€ณ็‚Žใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅฅฝ้…ธ็ƒๆ€งไธญ่€ณ็‚Žใจๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎไธญ่€ณ็‚Žใฏใ€้›ฃๆฒปๆ€งใง่ดๅŠ›้šœๅฎณใฏ้€ฒ่กŒใ—ใ€่พใซ่‡ณใ‚‹ใ€‚้ผป็ฒ˜่†œใซใฏๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŒใ€ไธญ่€ณ็‚Žใ‚’ไผดใ†ใจ่€ณๆผใซใ‚‚ๅคšๆ•ฐใฎๅฅฝ้…ธ็ƒๆตธๆฝคใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใฏใ€ๆœฌ็–พๆ‚ฃใŒ่‰ฏๆ€ง็–พๆ‚ฃใฎใŸใ‚ใ€ไธปๆฒปๅŒปใฏ็ถ™็ถšไฝฟ็”จใซใŸใ‚ใ‚‰ใ„ใ‚’ๆ„Ÿใ˜ใ€ๆ•ฐใ‹ๆœˆใงๆŠ•ไธŽใ‚’ไธญๆญขใ™ใ‚‹ใจๅข—ๆ‚ชใ‚’ใ™ใ‚‹ใ€‚ไธŠๆฐ—้“ๆ„ŸๆŸ“ใซใ‚ˆใฃใฆใ‚‚็—‡็ŠถใŒๅข—ๆ‚ชใ™ใ‚‹ใŸใ‚ๅ†ๅบฆ็ตŒๅฃใ‚นใƒ†ใƒญใ‚คใƒ‰ใ‚’ๆŠ•ไธŽใ›ใ–ใ‚‹ใ‚’ๅพ—ใชใ„็Šถๆณใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200947" ; + dcterms:source ; a owl:Class ; - rdfs:label "Eosinophilic sinusitis"@en, "ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Eosinophilic sinusitis"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใตใใณใใ†ใˆใ‚“"@ja-Hira, "ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "ๅฅฝ้…ธ็ƒๆ€งๅ‰ฏ้ผป่…”็‚Ž"@ja . -:1200948 - :hasNotificationNumber "307" ; - terms:description "ใ‚ซใƒŠใƒใƒณ็—…ใฏใ€ใ‚ขใ‚นใƒ‘ใƒซใƒˆใ‚ขใ‚ทใƒฉใƒผใ‚ผ๏ผˆaspartoacylase๏ผšASPA๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžข็ฅž็ตŒ็ณปใซๅคง้‡ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€็จฎใงใ‚ใ‚‹N-ใ‚ขใ‚ปใƒใƒซใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธ๏ผˆN-acetyl-aspartate๏ผšNAA๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็™ฝ่ณชใฎใƒŸใ‚จใƒชใƒณ้ž˜ใฎ็ฉบ่ƒžๅŒ–ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€งใงไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅบงไฝใ‚„็™บ่ชžใ‚’็ฒๅพ—ใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚Šๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใชใฉใงๆญปไบกใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚"@ja ; - terms:identifier "1200948" ; - terms:source ; + + nando:hasNotificationNumber "307" ; + dcterms:description "ใ‚ซใƒŠใƒใƒณ็—…ใฏใ€ใ‚ขใ‚นใƒ‘ใƒซใƒˆใ‚ขใ‚ทใƒฉใƒผใ‚ผ๏ผˆaspartoacylase๏ผšASPA๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžข็ฅž็ตŒ็ณปใซๅคง้‡ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€็จฎใงใ‚ใ‚‹N-ใ‚ขใ‚ปใƒใƒซใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธ๏ผˆN-acetyl-aspartate๏ผšNAA๏ผ‰ใฎ่“„็ฉใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็™ฝ่ณชใฎใƒŸใ‚จใƒชใƒณ้ž˜ใฎ็ฉบ่ƒžๅŒ–ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€งใงไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅบงไฝใ‚„็™บ่ชžใ‚’็ฒๅพ—ใ™ใ‚‹ใ“ใจใชใ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ–ใ‚Šๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใชใฉใงๆญปไบกใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:1200948" ; + dcterms:source ; a owl:Class ; - rdfs:label "Canavan disease"@en, "ใ‚ซใƒŠใƒใƒณ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010079 ; + rdfs:label "Canavan disease"@en, "ใ‹ใชใฐใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒŠใƒใƒณ็—…"@ja ; + rdfs:seeAlso , , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010079 ; skos:prefLabel "ใ‚ซใƒŠใƒใƒณ็—…"@ja . -:1200949 - :hasNotificationNumber "308" ; - terms:description "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡๏ผˆMegalencephalic leukoencephalopathy with subcortical cysts๏ผ‰ใ€็™ฝ่ณชๆถˆๅคฑ็—…๏ผˆLeukoencephalopathy with vanishing white matter๏ผ‰ใ€ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆLeukoencephalopathy, progressive, with ovarian failure๏ผ‰ใฏใ€ไธ€ๅฎšๅนด้ฝขใพใงใฏๆญฃๅธธใซ็™บ้”ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅพŒใซ้€ฒ่กŒๆ€งใซๅคง่„ณ็™ฝ่ณช้šœๅฎณใ‚’ๆฅใ—ใ€ๅพใ€…ใซ้€€่กŒใ™ใ‚‹้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใฏใ€ๅคง่„ณ็™ฝ่ณช้šœๅฎณใŒ่ปฝๅบฆ้ ญ้ƒจๅค–ๅ‚ทใ‚„ๆ„ŸๆŸ“็—‡ใซใ‚ˆใ‚‹้ซ˜็†ฑใชใฉใ‚’ๅฅ‘ๆฉŸใซ้šŽๆฎต็Šถใซๆ‚ชๅŒ–ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„่ช็ŸฅๆฉŸ่ƒฝใฎไฝŽไธ‹ใ€ๅ››่‚ข้บป็—บ็—‡็Šถใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๅธธ็”Ÿๆดป่ƒฝๅŠ›ใฎไฝŽไธ‹ใŒๅพใ€…ใซ้ก•่‘—ใจใชใ‚‹ใ€‚ๆœ€็ต‚็š„ใซใฏๅฏใŸใใ‚Šใซใชใ‚Šใ€ๅŒป็™‚็š„ใ‚ฑใ‚ขใŒๅฟ…่ฆใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŒไธ€็–พๆ‚ฃใงใ‚ใฃใฆใ‚‚็™บ็—‡ๅนด้ฝขใฎๅน…ใฏๅบƒใใ€ไนณๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰ๆˆไบบๆœŸไปฅ้™ใฎ็™บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIๆคœๆŸปใซใ‚ˆใ‚‹ๅคง่„ณ็™ฝ่ณชใฎT2W้ซ˜ไฟกๅทใ‚„ๅšข่ƒžๅŒ–ใŒ็‰นๅพดใงใ‚ใ‚‹ใŒใ€็”ŸๅŒ–ๅญฆ็š„ๆคœๆŸปใชใฉใฎๅฎข่ฆณ็š„ใชๆŒ‡ๆจ™ใฏใชใใ€็ขบๅฎš่จบๆ–ญใฏ้บไผๅญ่จบๆ–ญใซใ‚ˆใ‚‹ใ—ใ‹ใชใ„ใ€‚"@ja ; - terms:identifier "1200949" ; + + nando:hasNotificationNumber "308" ; + dcterms:description "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡๏ผˆMegalencephalic leukoencephalopathy with subcortical cysts๏ผ‰ใ€็™ฝ่ณชๆถˆๅคฑ็—…๏ผˆLeukoencephalopathy with vanishing white matter๏ผ‰ใ€ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡๏ผˆLeukoencephalopathy, progressive, with ovarian failure๏ผ‰ใฏใ€ไธ€ๅฎšๅนด้ฝขใพใงใฏๆญฃๅธธใซ็™บ้”ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅพŒใซ้€ฒ่กŒๆ€งใซๅคง่„ณ็™ฝ่ณช้šœๅฎณใ‚’ๆฅใ—ใ€ๅพใ€…ใซ้€€่กŒใ™ใ‚‹้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡ใฏใ€ๅคง่„ณ็™ฝ่ณช้šœๅฎณใŒ่ปฝๅบฆ้ ญ้ƒจๅค–ๅ‚ทใ‚„ๆ„ŸๆŸ“็—‡ใซใ‚ˆใ‚‹้ซ˜็†ฑใชใฉใ‚’ๅฅ‘ๆฉŸใซ้šŽๆฎต็Šถใซๆ‚ชๅŒ–ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„่ช็ŸฅๆฉŸ่ƒฝใฎไฝŽไธ‹ใ€ๅ››่‚ข้บป็—บ็—‡็Šถใชใฉใ‚’ๆฅใ™ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๅธธ็”Ÿๆดป่ƒฝๅŠ›ใฎไฝŽไธ‹ใŒๅพใ€…ใซ้ก•่‘—ใจใชใ‚‹ใ€‚ๆœ€็ต‚็š„ใซใฏๅฏใŸใใ‚Šใซใชใ‚Šใ€ๅŒป็™‚็š„ใ‚ฑใ‚ขใŒๅฟ…่ฆใซใชใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŒไธ€็–พๆ‚ฃใงใ‚ใฃใฆใ‚‚็™บ็—‡ๅนด้ฝขใฎๅน…ใฏๅบƒใใ€ไนณๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰ๆˆไบบๆœŸไปฅ้™ใฎ็™บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIๆคœๆŸปใซใ‚ˆใ‚‹ๅคง่„ณ็™ฝ่ณชใฎT2W้ซ˜ไฟกๅทใ‚„ๅšข่ƒžๅŒ–ใŒ็‰นๅพดใงใ‚ใ‚‹ใŒใ€็”ŸๅŒ–ๅญฆ็š„ๆคœๆŸปใชใฉใฎๅฎข่ฆณ็š„ใชๆŒ‡ๆจ™ใฏใชใใ€็ขบๅฎš่จบๆ–ญใฏ้บไผๅญ่จบๆ–ญใซใ‚ˆใ‚‹ใ—ใ‹ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200949" ; a owl:Class ; - rdfs:label "Progressive multifocal leukoencephalopathy"@en, "้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Progressive leukoencephalopathy"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Leukoencephalopathy"@en ; - skos:closeMatch mondo:MONDO_0016318 ; skos:prefLabel "้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡"@ja . -:1200950 - :hasNotificationNumber "308" ; - terms:identifier "1200950" ; - terms:source ; + + nando:hasNotificationNumber "308" ; + dcterms:identifier "NANDO:1200950" ; + dcterms:source ; a owl:Class ; - rdfs:label "Megalencephalic leukoencephalopathy with subcortical cysts"@en, "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011391 ; + rdfs:label "Megaloencephalic leukoencephalopathy with subcortical cysts"@en, "ใฒใ—ใคใ‹ใฎใ†ใปใ†ใ‚’ใ‚‚ใคใ ใ„ใจใ†ใŒใŸใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011391 ; skos:prefLabel "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡"@ja . -:1200951 - :hasNotificationNumber "308" ; - terms:identifier "1200951" ; - terms:source ; + + nando:hasNotificationNumber "308" ; + dcterms:identifier "NANDO:1200951" ; + dcterms:source ; a owl:Class ; - rdfs:label "Leukoencephalopathy with vanishing white matter"@en, "็™ฝ่ณชๆถˆๅคฑ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011380 ; + rdfs:label "Vanishing white matter disease"@en, "ใฏใใ—ใคใ—ใ‚‡ใ†ใ—ใคใณใ‚‡ใ†"@ja-Hira, "็™ฝ่ณชๆถˆๅคฑ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011380 ; skos:prefLabel "็™ฝ่ณชๆถˆๅคฑ็—…"@ja . -:1200952 - :hasNotificationNumber "308" ; - terms:identifier "1200952" ; - terms:source ; + + nando:hasNotificationNumber "308" ; + dcterms:identifier "NANDO:1200952" ; + dcterms:source ; a owl:Class ; - rdfs:label "Leukoencephalopathy, progressive, with ovarian failure"@en, "ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0014387 ; + rdfs:label "Leukoencephalopathy, progressive, with ovarian failure"@en, "ใ‚‰ใ‚“ใใ†ใใฎใ†ใ—ใ‚‡ใ†ใŒใ„ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚“ใ“ใ†ใ›ใ„ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "LKENP"@en ; + skos:closeMatch obo:MONDO_0014387 ; skos:prefLabel "ๅตๅทฃๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†้€ฒ่กŒๆ€ง็™ฝ่ณช่„ณ็—‡"@ja . -:1200953 - :hasNotificationNumber "309" ; - terms:description "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…๏ผˆUnverricht-Lundborg็—…๏ผšULD๏ผ‰ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…๏ผˆLafora็—…๏ผ‰ๅŠใณ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆbenign adult familial myoclonus epilepsy๏ผšBAFME๏ผ‰ใฏใ€้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonus epilepsy๏ผšPME๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚PMEใฏใ€โ‘ ไธ้šๆ„้‹ๅ‹•ใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€โ‘กใฆใ‚“ใ‹ใ‚“็™บไฝœใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœๅŠใณๅ…จ่ˆฌๅผท็›ด้–“ไปฃ็™บไฝœใ€โ‘ขๅฐ่„ณ็—‡็Šถใ€โ‘ฃ่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ‚’๏ผ”ๅพดใจใ—ใฆ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ใชใฉใฎ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใ€MELASใ‚„MERRFใชใฉใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ€็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใชใฉใ‚‚ๅซใ‚€ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ“ใงใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใซ็™บ็—‡ใ—ใฆๆˆไบบไปฅ้™ใ‚‚็ฝน็—…ๆœŸ้–“ใŒ้•ทใ„PMEใฎไธญๆ ธ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…ใ€ใ•ใ‚‰ใซใ€่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใ‚’ๆ‰ฑใ†ใ€‚่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฏใ€ๆ—ฅๆœฌใงๅคšใ„้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใงใ€ๆˆไบบไปฅ้™ใซ็™บ็—‡ใ—ใฆใ€ๅฝ“ๅˆ็—‡็Šถใฏ่ปฝๅบฆใงใ‹ใค็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹ใŒใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ๅ‰่€…ใฎ็‰นๅพดใ‹ใ‚‰ใ€Œ่‰ฏๆ€งใ€ใฎๅ็งฐใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใฎ็ ”็ฉถใ‹ใ‚‰ใฏ้€ฒ่กŒๆ€งใงใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ—ๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆActivities of Daily Living๏ผšADL๏ผ‰ใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "1200953" ; + + nando:hasNotificationNumber "309" ; + dcterms:description "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…๏ผˆUnverricht-Lundborg็—…๏ผšULD๏ผ‰ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…๏ผˆLafora็—…๏ผ‰ๅŠใณ่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆbenign adult familial myoclonus epilepsy๏ผšBAFME๏ผ‰ใฏใ€้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonus epilepsy๏ผšPME๏ผ‰ใ‚’ๅ‘ˆใ—ใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚PMEใฏใ€โ‘ ไธ้šๆ„้‹ๅ‹•ใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€โ‘กใฆใ‚“ใ‹ใ‚“็™บไฝœใจใ—ใฆใฎใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœๅŠใณๅ…จ่ˆฌๅผท็›ด้–“ไปฃ็™บไฝœใ€โ‘ขๅฐ่„ณ็—‡็Šถใ€โ‘ฃ่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ‚’๏ผ”ๅพดใจใ—ใฆ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๆญฏ็Šถๆ ธ่ตคๆ ธๆทก่’ผ็ƒใƒซใ‚คไฝ“่Ž็ธฎ็—‡ใชใฉใฎ่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใ€MELASใ‚„MERRFใชใฉใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ€็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใชใฉใ‚‚ๅซใ‚€ใ€‚ใ—ใ‹ใ—ใ€ใ“ใ“ใงใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใซ็™บ็—‡ใ—ใฆๆˆไบบไปฅ้™ใ‚‚็ฝน็—…ๆœŸ้–“ใŒ้•ทใ„PMEใฎไธญๆ ธ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…ใ€ใƒฉใƒ•ใ‚ฉใƒฉ็—…ใ€ใ•ใ‚‰ใซใ€่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใ‚’ๆ‰ฑใ†ใ€‚่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฏใ€ๆ—ฅๆœฌใงๅคšใ„้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใงใ€ๆˆไบบไปฅ้™ใซ็™บ็—‡ใ—ใฆใ€ๅฝ“ๅˆ็—‡็Šถใฏ่ปฝๅบฆใงใ‹ใค็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹ใŒใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ™ใ‚‹ใ€‚ๅ‰่€…ใฎ็‰นๅพดใ‹ใ‚‰ใ€Œ่‰ฏๆ€งใ€ใฎๅ็งฐใŒไฝฟ็”จใ•ใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใฎ็ ”็ฉถใ‹ใ‚‰ใฏ้€ฒ่กŒๆ€งใงใ€้ซ˜้ฝขใจใชใ‚Š็‰นใซ็—‡็ŠถใŒๆ‚ชๅŒ–ใ—ๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆActivities of Daily Living๏ผšADL๏ผ‰ใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200953" ; a owl:Class ; - rdfs:label "Progressive myoclonus epilepsy"@en, "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Progressive myoclonus epilepsy"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "PME"@en ; - skos:closeMatch mondo:MONDO_0020074 ; + skos:closeMatch obo:MONDO_0020074 ; skos:prefLabel "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja . -:1200954 - :hasNotificationNumber "309" ; - terms:identifier "1200954" ; - terms:source ; - a owl:Class ; - rdfs:label "Unverricht-Lundborg disease"@en, "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ULD"@en ; - skos:closeMatch mondo:MONDO_0009698 ; - skos:prefLabel "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒ‰ใƒœใƒซใ‚ฐ็—…"@ja . - -:1200955 - :hasNotificationNumber "309" ; - terms:identifier "1200955" ; - terms:source ; - a owl:Class ; - rdfs:label "Lafora disease"@en, "ใƒฉใƒ•ใ‚ฉใƒฉ็—…"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009697 ; + + nando:hasNotificationNumber "309" ; + dcterms:identifier "NANDO:1200954" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Unverricht-Lundborg disease"@en, "ใ†ใ‚“ใตใ‡ใ‚‹ใ‚Šใฒใจใƒปใ‚‹ใ‚“ใจใผใ‚‹ใใณใ‚‡ใ†"@ja-Hira, "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ULD"@en, "Unverricht-Lundborg็—…"@ja ; + skos:closeMatch obo:MONDO_0009698 ; + skos:prefLabel "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฐ็—…"@ja . + + + nando:hasNotificationNumber "309" ; + dcterms:identifier "NANDO:1200955" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lafora disease"@en, "ใ‚‰ใตใ‰ใ‚‰ใณใ‚‡ใ†"@ja-Hira, "ใƒฉใƒ•ใ‚ฉใƒฉ็—…"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Lafora็—…"@ja ; + skos:closeMatch obo:MONDO_0009697 ; skos:prefLabel "ใƒฉใƒ•ใ‚ฉใƒฉ็—…"@ja . -:1200956 - :hasNotificationNumber "309" ; - terms:identifier "1200956" ; - terms:source ; + + nando:hasNotificationNumber "309" ; + dcterms:identifier "NANDO:1200956" ; + dcterms:source ; a owl:Class ; - rdfs:label "benign adult familial myoclonus epilepsy"@en, "่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Benign adult familial myoclonus epilepsy"@en, "ใ‚Šใ‚‡ใ†ใ›ใ„ใ›ใ„ใ˜ใ‚“ใŒใŸใ‹ใžใใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "BAFME"@en ; - skos:closeMatch mondo:MONDO_0019448 ; + skos:closeMatch obo:MONDO_0019448 ; skos:prefLabel "่‰ฏๆ€งๆˆไบบๅž‹ๅฎถๆ—ๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja . -:1200957 - :hasNotificationNumber "310" ; - terms:description "ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆmalformation๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซ่ค‡ๆ•ฐใฎๅ™จๅฎ˜็ณป็ตฑใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅ˜ไธ€้ƒจไฝใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹่งฃๅ‰–ๅญฆ็š„้ƒจไฝใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๆ•ฐๅใ‹ใ‚‰ๆ•ฐ็™พใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹็—‡็Šถใฏใ€ๅฝฑ้Ÿฟใ‚’ๅ—ใ‘ใ‚‹่‡“ๅ™จใซใ‚ˆใ‚‹ใ€‚ๅฟƒ่‚บๆฉŸ่ƒฝใƒปๆถˆๅŒ–็ฎกๆฉŸ่ƒฝใƒป้›ฃๆฒปๆ€ง็—™ๆ”ฃใชใฉใฎไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚ˆใ‚Š็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€้‹ๅ‹•ๅ™จใ‚„ๆ„Ÿ่ฆšๅ™จใฎ้€ฒ่กŒๆ€งใฎๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200957" ; + + nando:hasNotificationNumber "310" ; + dcterms:description "ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆmalformation๏ผ‰็—‡ๅ€™็พคใฏใ€ๅ…ˆๅคฉ็š„ใซ่ค‡ๆ•ฐใฎๅ™จๅฎ˜็ณป็ตฑใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅ˜ไธ€้ƒจไฝใซๅ…ˆๅคฉ็•ฐๅธธใŒใ‚ใ‚‹็–พๆ‚ฃใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹่งฃๅ‰–ๅญฆ็š„้ƒจไฝใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๆ•ฐๅใ‹ใ‚‰ๆ•ฐ็™พใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงๅ•้กŒใจใชใ‚‹็—‡็Šถใฏใ€ๅฝฑ้Ÿฟใ‚’ๅ—ใ‘ใ‚‹่‡“ๅ™จใซใ‚ˆใ‚‹ใ€‚ๅฟƒ่‚บๆฉŸ่ƒฝใƒปๆถˆๅŒ–็ฎกๆฉŸ่ƒฝใƒป้›ฃๆฒปๆ€ง็—™ๆ”ฃใชใฉใฎไธญๆžข็ฅž็ตŒ้šœๅฎณ็ญ‰ใ‚ˆใ‚Š็”Ÿๅ‘ฝใฎๅฑ้™บใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€้‹ๅ‹•ๅ™จใ‚„ๆ„Ÿ่ฆšๅ™จใฎ้€ฒ่กŒๆ€งใฎๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200957" ; a owl:Class ; - rdfs:label "Congenital anomalies syndrome"@en, "ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Malformative syndrome"@en ; + rdfs:label "Congenital anomalies syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital malformation syndrome"@en, "Malformative syndrome"@en ; + skos:closeMatch obo:MONDO_0000839 ; skos:prefLabel "ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค"@ja . -:1200958 - :hasNotificationNumber "310" ; - terms:identifier "1200958" ; - terms:source ; + + nando:hasNotificationNumber "310" ; + dcterms:identifier "NANDO:1200958" ; + dcterms:source ; a owl:Class ; - rdfs:label "1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค"@ja, "Partial trisomy 1q"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016952 ; + rdfs:label "1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค"@ja, "1ใใ‚…ใƒผใถใถใ‚“ใ˜ใ‚…ใ†ใตใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "Partial trisomy 1q"@en ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016952 ; skos:prefLabel "1q้ƒจๅˆ†้‡่ค‡็—‡ๅ€™็พค"@ja . -:1200959 - :hasNotificationNumber "310" ; - terms:identifier "1200959" ; - terms:source ; + + nando:hasNotificationNumber "310" ; + dcterms:identifier "NANDO:1200959" ; + dcterms:source ; a owl:Class ; - rdfs:label "9q34 deletion syndrome"@en, "9q34ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "9q34 deletion syndrome"@en, "9q34ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "9ใใ‚…ใƒผ34ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Kleefstra syndrome"@en ; - skos:closeMatch mondo:MONDO_0012455, mondo:MONDO_0027407 ; + skos:closeMatch obo:MONDO_0012455 ; skos:prefLabel "9q34ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . -:1200960 - :hasNotificationNumber "310" ; - terms:identifier "1200960" ; - terms:source ; + + nando:hasNotificationNumber "310" ; + dcterms:identifier "NANDO:1200960" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cornelia de lange syndrome"@en, "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016033 ; + rdfs:label "Cornelia de lange syndrome"@en, "ใ“ใ‚‹ใญใ‚Šใ‚ใƒปใงใ‚‰ใ‚“ใ’ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Cornelia de Lange็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0016033 ; skos:prefLabel "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค"@ja . -:1200961 - :hasNotificationNumber "310" ; - terms:identifier "1200961" ; - terms:source ; + + nando:hasNotificationNumber "310" ; + dcterms:identifier "NANDO:1200961" ; + dcterms:source ; a owl:Class ; - rdfs:label "Smith-lemli-opitz syndrome"@en, "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010035 ; + rdfs:label "Smith-lemli-opitz syndrome"@en, "ใ™ใฟใ™ใƒปใ‚Œใ‚€ใ‚ŠใƒปใŠใดใฃใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Smith-Lemli-Opitz็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010035 ; skos:prefLabel "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค"@ja . -:1200962 - :hasNotificationNumber "311" ; - terms:description "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆๅณๆˆฟใ‹ใ‚‰ๅณๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๆˆฟๆตๅ…ฅ่ก€ๆตใฎๅ…จใฆใ‚’ๅณๅฎคใธ้€š้Žใ•ใ›ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ๅฟƒๆˆฟ้–“ใงใฏๅณๅทฆ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ€ไฝŽ้…ธ็ด ่ก€็—‡ใจใชใ‚‹ใ€‚ๆ‰‹่ก“ใ‚’ๅซใ‚ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆŒ็ถšใ™ใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹ๅคš่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ€‚่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ€้ซ˜ๅบฆใชไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จใ‚’ไฝต็™บใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซๅฟƒใƒป่‚บใฎ็Šถๆ…‹ใŒ่จฑใ›ใฐใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ใฎๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ นๆฒป็š„ใชๆฒป็™‚ใงใฏใชใ้ ้š”ๆœŸใซๅพช็’ฐ็ ด็ถปใ‚’็”Ÿใ˜ๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200962" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital tricuspid stenosis"@en, "ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Congenital tricuspid atresia"@en, "Tricuspid atresia"@en ; - skos:closeMatch mondo:MONDO_0011514, mondo:MONDO_0019813 ; + + nando:hasNotificationNumber "311" ; + dcterms:description "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆๅณๆˆฟใ‹ใ‚‰ๅณๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๆˆฟๆตๅ…ฅ่ก€ๆตใฎๅ…จใฆใ‚’ๅณๅฎคใธ้€š้Žใ•ใ›ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ๅฟƒๆˆฟ้–“ใงใฏๅณๅทฆ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ€ไฝŽ้…ธ็ด ่ก€็—‡ใจใชใ‚‹ใ€‚ๆ‰‹่ก“ใ‚’ๅซใ‚ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ๆŒ็ถšใ™ใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹ๅคš่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ€‚่‚บ่ก€็ฎกไฝŽๅฝขๆˆใ€้ซ˜ๅบฆใชไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จใ‚’ไฝต็™บใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซๅฟƒใƒป่‚บใฎ็Šถๆ…‹ใŒ่จฑใ›ใฐใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ใฎๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ นๆฒป็š„ใชๆฒป็™‚ใงใฏใชใ้ ้š”ๆœŸใซๅพช็’ฐ็ ด็ถปใ‚’็”Ÿใ˜ๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200962" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital tricuspid stenosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ‚“ใ›ใ‚“ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital tricuspid atresia"@en, "Congenital tricuspid valve stenosis"@en, "Tricuspid atresia"@en ; + skos:closeMatch obo:MONDO_0011514, obo:MONDO_0019813 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡"@ja . -:1200963 - :hasNotificationNumber "312" ; - terms:description "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…ˆๅคฉ็š„ใชๅผ่ผชใฎไฝŽๅฝขๆˆใ€ๅผไธŠ็‹ญ็ช„่ผชใ€ๅผๅˆใฏๅผไธ‹็ต„็น”ใฎๆง‹้€ ็•ฐๅธธใชใฉใซ่ตทๅ› ใ™ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃ๏ผˆๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉ๏ผ‰ใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "1200963" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital mitral stenosis"@en, "ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "mitral stenosis"@en ; - skos:closeMatch mondo:MONDO_0005852, mondo:MONDO_0020398 ; + + nando:hasNotificationNumber "312" ; + dcterms:description "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ๆฅใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…ˆๅคฉ็š„ใชๅผ่ผชใฎไฝŽๅฝขๆˆใ€ๅผไธŠ็‹ญ็ช„่ผชใ€ๅผๅˆใฏๅผไธ‹็ต„็น”ใฎๆง‹้€ ็•ฐๅธธใชใฉใซ่ตทๅ› ใ™ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃ๏ผˆๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉ๏ผ‰ใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200963" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital mitral stenosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ†ใผใ†ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital mitral valve stenosis"@en, "Mitral stenosis"@en, "Mitral valve stenosis"@en ; + skos:closeMatch obo:MONDO_0005852, obo:MONDO_0020398 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„็—‡"@ja . -:1200964 - :hasNotificationNumber "313" ; - terms:description "่‚บ้™่„ˆใŒๅ…ˆๅคฉๆ€งใซ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ้–‰้Ž–ใจใชใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ฑ้€š่‚บ้™่„ˆ่…”ใฎๅทฆๆˆฟใธใฎๅธๅŽ้Ž็จ‹ใซใŠใ‘ใ‚‹็•ฐๅธธใจใ•ใ‚Œใ€่‚บๅค–ใฎ่‚บ้™่„ˆใŒไธปใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ใใฎ็™บ็”Ÿ็•ฐๅธธใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็‰‡ๅดใฎใฟใฎ่‚บ้™่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใฏๅทฆๅดใงใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ“ๆœฌไปฅไธŠ็‹ญ็ช„ใŒใ‚ใ‚Œใฐใ€่‚บ้ซ˜่ก€ๅœงใ€ๅณๅฟƒไธๅ…จใ‚’ๅˆไฝตใ—ใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "1200964" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital pulmonary vein stenosis"@en, "ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "313" ; + dcterms:description "่‚บ้™่„ˆใŒๅ…ˆๅคฉๆ€งใซ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‹ญ็ช„ใŒ้‡็—‡ๅŒ–ใ—ใฆ้–‰้Ž–ใจใชใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ฑ้€š่‚บ้™่„ˆ่…”ใฎๅทฆๆˆฟใธใฎๅธๅŽ้Ž็จ‹ใซใŠใ‘ใ‚‹็•ฐๅธธใจใ•ใ‚Œใ€่‚บๅค–ใฎ่‚บ้™่„ˆใŒไธปใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ใใฎ็™บ็”Ÿ็•ฐๅธธใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็‰‡ๅดใฎใฟใฎ่‚บ้™่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใงใ‚ใ‚Šใ€็ด„๏ผ™ๅ‰ฒใฏๅทฆๅดใงใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ“ๆœฌไปฅไธŠ็‹ญ็ช„ใŒใ‚ใ‚Œใฐใ€่‚บ้ซ˜่ก€ๅœงใ€ๅณๅฟƒไธๅ…จใ‚’ๅˆไฝตใ—ใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1200964" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital pulmonary vein stenosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital pulmonary venous obstruction"@en ; + skos:closeMatch obo:MONDO_0017864 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja . -:1200965 - :hasNotificationNumber "314" ; - terms:description "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นๅŠใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจๅŠใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใฏใ€ๆˆไบบๆœŸใซใฏ่‚บๆฐ—่…ซใ€็„กๆฐ—่‚บใชใฉใซใ‚ˆใฃใฆๆ…ขๆ€งๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200965" ; - terms:source ; + + nando:hasNotificationNumber "314" ; + dcterms:description "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นๅŠใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจๅŠใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใฏใ€ๆˆไบบๆœŸใซใฏ่‚บๆฐ—่…ซใ€็„กๆฐ—่‚บใชใฉใซใ‚ˆใฃใฆๆ…ขๆ€งๅ‘ผๅธไธๅ…จใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200965" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vascular sling"@en, "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Vascular sling"@en, "ใฒใ ใ‚Šใฏใ„ใฉใ†ใฟใ‚ƒใใฟใŽใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "PA sling"@en, "Pulmonary artery sling"@en ; skos:prefLabel "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja . -:1200966 - :hasNotificationNumber "315" ; - terms:description "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผLMX1B้–ข้€ฃ่…Ž็—‡ใฏใ€็ˆชๅฝขๆˆไธๅ…จใ€่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆใ€่…ธ้ชจใฎ่ง’็Šถ็ช่ตท๏ผˆiliac horn๏ผ‰ใ€่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’๏ผ”ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—ใ€ไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ๅŽŸๅ› ใฏLMX1B้บไผๅญๅค‰็•ฐใงใ‚ใ‚‹ใ€‚็ˆชใ€่†่“‹้ชจใ€่…ธ้ชจใชใฉใฎๅค‰ๅŒ–ใ‚’ไผดใ‚ใšใ€่…Ž็—‡ใ ใ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พคๆง˜่…Ž็—‡๏ผˆnail-patella-like renal disease๏ผšNPLRD๏ผ‰ใ‚„ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ๆ‚ฃ่€…ใซใ‚‚ใ€LMX1B้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใฏLMX1B้–ข้€ฃ่…Ž็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200966" ; - terms:source ; + + nando:hasNotificationNumber "315" ; + dcterms:description "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผLMX1B้–ข้€ฃ่…Ž็—‡ใฏใ€็ˆชๅฝขๆˆไธๅ…จใ€่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆใ€่…ธ้ชจใฎ่ง’็Šถ็ช่ตท๏ผˆiliac horn๏ผ‰ใ€่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’๏ผ”ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—ใ€ไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚ๅŽŸๅ› ใฏLMX1B้บไผๅญๅค‰็•ฐใงใ‚ใ‚‹ใ€‚็ˆชใ€่†่“‹้ชจใ€่…ธ้ชจใชใฉใฎๅค‰ๅŒ–ใ‚’ไผดใ‚ใšใ€่…Ž็—‡ใ ใ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พคๆง˜่…Ž็—‡๏ผˆnail-patella-like renal disease๏ผšNPLRD๏ผ‰ใ‚„ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ๆ‚ฃ่€…ใซใ‚‚ใ€LMX1B้บไผๅญๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใฏLMX1B้–ข้€ฃ่…Ž็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200966" ; + dcterms:source ; a owl:Class ; - rdfs:label "nail-patella syndrome/LMX1B-Associated Nephropathy"@en, "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Nail-patella syndrome/LMX1B-associated nephropathy"@en, "ใญใ„ใ‚‹ใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใใ†ใ—ใคใŒใ„ใ“ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผ‰๏ผใˆใ‚‹ใˆใ‚€ใˆใฃใใ™1ใณใƒผใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Nail-patella็—‡ๅ€™็พค"@ja ; skos:prefLabel "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค๏ผˆ็ˆช่†่“‹้ชจ็—‡ๅ€™็พค๏ผ‰๏ผ๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡"@ja . -:1200967 - :hasNotificationNumber "315" ; - terms:identifier "1200967" ; - terms:source ; - a owl:Class ; - rdfs:label "nail-patella syndrome"@en, "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008061 ; - skos:prefLabel "ใƒใ‚คใƒซใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค"@ja . - -:1200968 - :hasNotificationNumber "315" ; - terms:identifier "1200968" ; - terms:source ; - a owl:Class ; - rdfs:label "LMX1B-Associated Nephropathy"@en, "๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "315" ; + dcterms:identifier "NANDO:1200967" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nail-patella syndrome"@en, "ใญใ„ใ‚‹ใƒปใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "Nail-patella็—‡ๅ€™็พค"@ja, "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008061 ; + skos:prefLabel "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "315" ; + dcterms:identifier "NANDO:1200968" ; + dcterms:source ; + a owl:Class ; + rdfs:label "LMX1B-associated nephropathy"@en, "ใˆใ‚‹ใˆใ‚€ใˆใฃใใ™1ใณใƒผใ‹ใ‚“ใ‚Œใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "๏ผฌ๏ผญ๏ผธ๏ผ‘๏ผข้–ข้€ฃ่…Ž็—‡"@ja . -:1200969 - :hasNotificationNumber "316" ; - terms:description "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ตใ‚คใ‚ฏใƒซใ‚’ๆง‹ๆˆใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ‘๏ผˆCPT1๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ’๏ผˆCPT2๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผ๏ผˆCACT๏ผ‰ๅŠใณใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซ่ผธ้€ใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆOCTN-2๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใชใใชใ‚Šใ€ใใฎ็ตๆžœใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚่‡จๅบŠ็—…ๅž‹ใจใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200969" ; - terms:source ; + + nando:hasNotificationNumber "316" ; + dcterms:description "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ตใ‚คใ‚ฏใƒซใ‚’ๆง‹ๆˆใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ‘๏ผˆCPT1๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผ’๏ผˆCPT2๏ผ‰ใ€ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผ๏ผˆCACT๏ผ‰ๅŠใณใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซ่ผธ้€ใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆOCTN-2๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใชใใชใ‚Šใ€ใใฎ็ตๆžœใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚่‡จๅบŠ็—…ๅž‹ใจใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200969" ; + dcterms:source ; a owl:Class ; - rdfs:label "carnitine cycle disorders"@en, "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Carnitine cycle disorders"@en, "ใ‹ใ‚‹ใซใกใ‚“ใ‹ใ„ใ‚ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017716 ; skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡"@ja . -:1200970 - :hasNotificationNumber "316" ; - terms:identifier "1200970" ; - terms:source ; - a owl:Class ; - rdfs:label "CPT1ๆฌ ๆ็—‡"@ja, "Carnitine Palmitoyltransferase I deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009705 ; - skos:prefLabel "CPT1ๆฌ ๆ็—‡"@ja . - -:1200971 - :hasNotificationNumber "316" ; - terms:identifier "1200971" ; - terms:source ; - a owl:Class ; - rdfs:label "CPT2ๆฌ ๆ็—‡"@ja, "Carnitine Palmitoyltransferase II deficiency"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0015515 ; - skos:prefLabel "CPT2ๆฌ ๆ็—‡"@ja . - -:1200972 - :hasNotificationNumber "316" ; - terms:identifier "1200972" ; - terms:source ; - a owl:Class ; - rdfs:label "CACTๆฌ ๆ็—‡"@ja, "Carnitine-acylcarnitine translocase deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008918 ; - skos:prefLabel "CACTๆฌ ๆ็—‡"@ja . - -:1200973 - :hasNotificationNumber "316" ; - terms:identifier "1200973" ; - terms:source ; - a owl:Class ; - rdfs:label "OCTN-2็•ฐๅธธ็—‡"@ja, "Systemic primary carnitine deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "CDSP"@en, "Carnitine deficiency, systemic primary"@en, "Carnitine uptakeย defect"@en, "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡"@ja ; - skos:closeMatch mondo:MONDO_0008919 ; - skos:prefLabel "OCTN-2็•ฐๅธธ็—‡"@ja . - -:1200974 - :hasNotificationNumber "317" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎฮฒ-้…ธๅŒ–็ณปใฎใ†ใกใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซ็ตๅˆใ—ใŸ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ๅ›ž่ทฏใ‚’ๅฝขๆˆใ™ใ‚‹๏ผ’้…ต็ด ใฎ๏ผ‘ใคใงใ€้•ท้Ž–่„‚่‚ช้…ธฮฒ้…ธๅŒ–ๅ›ž่ทฏใฎ็ฌฌ๏ผ’ใฎ้…ต็ด ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆenoyl-CoA hydratase๏ผšLCEH๏ผ‰ใ€็ฌฌ๏ผ“ใฎ 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆ3-hydroxyacyl-CoA dehydrogenase๏ผšLCHAD๏ผ‰ใ€็ฌฌ๏ผ”ใฎ3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆ3-ketoacyl-CoA thiolase๏ผšLCKT๏ผ‰ใฎ๏ผ“ใคใฎๆฉŸ่ƒฝใ‚’ๆŒใฃใŸไธ‰้ ญ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใงใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ๅนผๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ—้ชจๆ ผ็ญ‹็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง่จบๆ–ญใ•ใ‚ŒใŸใ€ๅˆใฏๅฎถๆ—ๆคœ็ดขใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็„ก็—‡็Šถใฎ็—‡ไพ‹ใฏใฉใฎ็—…ๅž‹ใ‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใพใงใ€็™บ็—‡ๅ‰ๅž‹ใจๆšซๅฎš็š„ใซๅˆ†้กžใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200974" ; - terms:source ; - a owl:Class ; - rdfs:label "Trifunctional protein deficiency"@en, "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Mitochondrialย Trifunctional protein deficiency"@en, "TFP"@en ; - skos:closeMatch mondo:MONDO_0012172 ; + + nando:hasNotificationNumber "316" ; + dcterms:identifier "NANDO:1200970" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carnitine palmitoyltransferase I deficiency"@en, "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CPT1ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009705 ; + skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "316" ; + dcterms:identifier "NANDO:1200971" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carnitine palmitoyltransferase II deficiency"@en, "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CPT II deficiency"@en, "CPT2ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0015515 ; + skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "316" ; + dcterms:identifier "NANDO:1200972" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carnitine-acylcarnitine translocase deficiency"@en, "ใ‹ใ‚‹ใซใกใ‚“/ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "CACT deficiency"@en, "CACTๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008918 ; + skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "316" ; + dcterms:identifier "NANDO:1200973" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Systemic primary carnitine deficiency"@en, "ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "CDSP"@en, "Carnitine deficiency, systemic primary"@en, "Carnitine uptake defect"@en, "OCTN-2็•ฐๅธธ็—‡"@ja, "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡"@ja ; + skos:closeMatch obo:MONDO_0008919 ; + skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "317" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎฮฒ-้…ธๅŒ–็ณปใฎใ†ใกใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซ็ตๅˆใ—ใŸ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ๅ›ž่ทฏใ‚’ๅฝขๆˆใ™ใ‚‹๏ผ’้…ต็ด ใฎ๏ผ‘ใคใงใ€้•ท้Ž–่„‚่‚ช้…ธฮฒ้…ธๅŒ–ๅ›ž่ทฏใฎ็ฌฌ๏ผ’ใฎ้…ต็ด ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆenoyl-CoA hydratase๏ผšLCEH๏ผ‰ใ€็ฌฌ๏ผ“ใฎ 3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆ3-hydroxyacyl-CoA dehydrogenase๏ผšLCHAD๏ผ‰ใ€็ฌฌ๏ผ”ใฎ3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆ3-ketoacyl-CoA thiolase๏ผšLCKT๏ผ‰ใฎ๏ผ“ใคใฎๆฉŸ่ƒฝใ‚’ๆŒใฃใŸไธ‰้ ญ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใงใ€ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ใ€ๅนผๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ—้ชจๆ ผ็ญ‹็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง่จบๆ–ญใ•ใ‚ŒใŸใ€ๅˆใฏๅฎถๆ—ๆคœ็ดขใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็„ก็—‡็Šถใฎ็—‡ไพ‹ใฏใฉใฎ็—…ๅž‹ใ‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใพใงใ€็™บ็—‡ๅ‰ๅž‹ใจๆšซๅฎš็š„ใซๅˆ†้กžใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200974" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Trifunctional protein deficiency"@en, "ใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "TFP deficiency"@en, "mitochondrial trifunctional protein deficiency"@en ; + skos:closeMatch obo:MONDO_0012172 ; skos:prefLabel "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200975 - :hasNotificationNumber "317" ; - terms:identifier "1200975" ; - terms:source ; + + nando:hasNotificationNumber "317" ; + dcterms:identifier "NANDO:1200975" ; + dcterms:source ; a owl:Class ; - rdfs:label "Trifunctional protein deficiency,lethal type"@en, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Trifunctional protein deficiency, lethal type"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200976 - :hasNotificationNumber "317" ; - terms:identifier "1200976" ; - terms:source ; + + nando:hasNotificationNumber "317" ; + dcterms:identifier "NANDO:1200976" ; + dcterms:source ; a owl:Class ; - rdfs:label "Trifunctional protein deficiency,intermediate type"@en, "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Trifunctional protein deficiency, intermediate type"@en, "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200977 - :hasNotificationNumber "317" ; - terms:identifier "1200977" ; - terms:source ; + + nando:hasNotificationNumber "317" ; + dcterms:identifier "NANDO:1200977" ; + dcterms:source ; a owl:Class ; - rdfs:label "Trifunctional protein deficiency,myopathic type"@en, "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Trifunctional protein deficiency, myopathic type"@en, "ใกใฏใคใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:prefLabel "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200978 - :hasNotificationNumber "318" ; - terms:description "ใ‚ทใƒˆใƒชใƒณใฏใ€่‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใƒปใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚Šใ€ใƒชใƒณใ‚ด้…ธใƒปใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‚ทใƒฃใƒˆใƒซใฎไธ€ๅ“กใจใ—ใฆใ€็ดฐ่ƒž่ณชใง็”Ÿใ˜ใŸNADHใฎ้‚„ๅ…ƒใ‚จใƒใƒซใ‚ฎใƒผใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธ่ผธ้€ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซNADHใ‚’็”ฃ็”Ÿใ™ใ‚‹ๅๅฟœใซ้–ขไธŽใ™ใ‚‹ใ€‚ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใงใฏๅนด้ฝขไพๅญ˜็š„ใซ๏ผ’ใคใฎ็—…ๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ใฎ็—…ๅž‹ใงใ‚ใ‚‹NICCD๏ผˆneonatal intrahepatic cholestasis caused by citrin deficiency๏ผ‰ๅŠใณๆˆไบบๆœŸใฎๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆCTLN2๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆฑใ‚ขใ‚ธใ‚ขใ‹ใ‚‰ๆฑๅ—ใ‚ขใ‚ธใ‚ขใง้ ปๅบฆใŒ้ซ˜ใใ€ๅฐ‘ๆ•ฐใชใŒใ‚‰ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฎไฟๅ› ่€…้ ปๅบฆใฏ1/65ใงใ‚ใ‚Šใ€็†่ซ–ไธŠใฎๆœ‰็—…็Ž‡ใฏ1/17,000ใจใชใ‚‹ใ€‚CTLN2ใฎ็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใฎ็ด„20๏ผ…ใฎๆ‚ฃ่€…ใŒCTLN2ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200978" ; - terms:source ; + + nando:hasNotificationNumber "318" ; + dcterms:description "ใ‚ทใƒˆใƒชใƒณใฏใ€่‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใƒปใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚Šใ€ใƒชใƒณใ‚ด้…ธใƒปใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‚ทใƒฃใƒˆใƒซใฎไธ€ๅ“กใจใ—ใฆใ€็ดฐ่ƒž่ณชใง็”Ÿใ˜ใŸNADHใฎ้‚„ๅ…ƒใ‚จใƒใƒซใ‚ฎใƒผใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธ่ผธ้€ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซNADHใ‚’็”ฃ็”Ÿใ™ใ‚‹ๅๅฟœใซ้–ขไธŽใ™ใ‚‹ใ€‚ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใงใฏๅนด้ฝขไพๅญ˜็š„ใซ๏ผ’ใคใฎ็—…ๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ใฎ็—…ๅž‹ใงใ‚ใ‚‹NICCD๏ผˆneonatal intrahepatic cholestasis caused by citrin deficiency๏ผ‰ๅŠใณๆˆไบบๆœŸใฎๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆCTLN2๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆฑใ‚ขใ‚ธใ‚ขใ‹ใ‚‰ๆฑๅ—ใ‚ขใ‚ธใ‚ขใง้ ปๅบฆใŒ้ซ˜ใใ€ๅฐ‘ๆ•ฐใชใŒใ‚‰ๆฌง็ฑณใ‹ใ‚‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฎไฟๅ› ่€…้ ปๅบฆใฏ1/65ใงใ‚ใ‚Šใ€็†่ซ–ไธŠใฎๆœ‰็—…็Ž‡ใฏ1/17,000ใจใชใ‚‹ใ€‚CTLN2ใฎ็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใฎ็ด„20๏ผ…ใฎๆ‚ฃ่€…ใŒCTLN2ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200978" ; + dcterms:source ; a owl:Class ; - rdfs:label "Citrin deficiency"@en, "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011326, mondo:MONDO_0016602 ; + rdfs:label "Citrin deficiency"@en, "ใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016602 ; skos:prefLabel "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja . -:1200979 - :hasNotificationNumber "318" ; - terms:identifier "1200979" ; - terms:source ; + + nando:hasNotificationNumber "318" ; + dcterms:identifier "NANDO:1200979" ; + dcterms:source ; a owl:Class ; - rdfs:label "neonatal intrahepatic cholestasis caused by citrin deficiency"@en, "ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "NICCD"@en ; - skos:closeMatch mondo:MONDO_0011601 ; + rdfs:label "Neonatal intrahepatic cholestasis caused by citrin deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "NICCD"@en, "NICCD"@ja ; + skos:closeMatch obo:MONDO_0011601 ; skos:prefLabel "ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja . -:1200980 - :hasNotificationNumber "318" ; - terms:identifier "1200980" ; - terms:source ; - a owl:Class ; - rdfs:label "adult-onset type II citrullinemia"@en, "ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "CTLN2"@en ; - skos:closeMatch mondo:MONDO_0011326, mondo:MONDO_0016603 ; - skos:prefLabel "ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja . - -:1200981 - :hasNotificationNumber "318" ; - terms:identifier "1200981" ; - terms:source ; - a owl:Class ; - rdfs:label "Failure to thrive and dyslipidemia caused by citrin deficiency"@en, "้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "FTTDCD"@en ; + + nando:hasNotificationNumber "318" ; + dcterms:identifier "NANDO:1200980" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult-onset type II citrullinemia"@en, "ใ›ใ„ใ˜ใ‚“ใฏใฃใ—ใ‚‡ใ†2ใŒใŸใ—ใจใ‚‹ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Adult-onset type II citrullinaemia"@en, "CTLN2"@en, "CTLN2"@ja ; + skos:closeMatch obo:MONDO_0011326, obo:MONDO_0016603 ; + skos:prefLabel "ๆˆไบบ็™บ็—‡IIๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "318" ; + dcterms:identifier "NANDO:1200981" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Failure to thrive and dyslipidemia caused by citrin deficiency"@en, "ใฆใใŠใ†ใƒปใ ใ„ใ—ใ‚‡ใ†ใใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FTTDCD"@en, "Failure to thrive and dyslipidaemia caused by citrin deficiency"@en ; skos:prefLabel "้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja . -:1200982 - :hasNotificationNumber "319" ; - terms:description "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใฏ๏ผ“็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธๆฐด้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎ็”Ÿๅˆๆˆใซ้–ขใ‚ใ‚‹SRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€BH4ใฎๆฌ ไนใ‚’ๆฅใ™้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ใ€‚่‚่‡“ใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใงBH4ใŒๅˆๆˆใ•ใ‚Œใ‚‹ใŸใ‚ใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใฏๆฅใ•ใชใ„ใŒใ€่„ณใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใŒๅผฑใๅฟ…่ฆใชBH4ใฏๅˆๆˆใ•ใ‚Œใชใ„ใŸใ‚ใ€ใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณๅŠใณใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€BH4ๆฌ ๆ็—‡ใจๅŒๆง˜ใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใŒใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใ‚’ๆฅใ•ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€่จบๆ–ญใจๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ‚ฃ่€…ๆ•ฐใฏใ€ๆœฌ้‚ฆใงใฏ2014ๅนดใซ็ฌฌ๏ผ‘ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใซ้ŽใŽใšใ€ไธ–็•Œใงใ‚‚50ไพ‹็จ‹ๅบฆใฎๆฅตใ‚ใฆใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200982" ; - terms:source ; + + nando:hasNotificationNumber "319" ; + dcterms:description "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใฏ๏ผ“็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธๆฐด้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎ็”Ÿๅˆๆˆใซ้–ขใ‚ใ‚‹SRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€BH4ใฎๆฌ ไนใ‚’ๆฅใ™้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใ‚’ๅ–ใ‚‹ใ€‚่‚่‡“ใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใงBH4ใŒๅˆๆˆใ•ใ‚Œใ‚‹ใŸใ‚ใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใฏๆฅใ•ใชใ„ใŒใ€่„ณใงใฏSRไปฅๅค–ใฎ้‚„ๅ…ƒ้…ต็ด ใฎๅƒใใŒๅผฑใๅฟ…่ฆใชBH4ใฏๅˆๆˆใ•ใ‚Œใชใ„ใŸใ‚ใ€ใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณๅŠใณใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€BH4ๆฌ ๆ็—‡ใจๅŒๆง˜ใฎไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใŒใ€้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡ใ‚’ๆฅใ•ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€่จบๆ–ญใจๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆ‚ฃ่€…ๆ•ฐใฏใ€ๆœฌ้‚ฆใงใฏ2014ๅนดใซ็ฌฌ๏ผ‘ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใซ้ŽใŽใšใ€ไธ–็•Œใงใ‚‚50ไพ‹็จ‹ๅบฆใฎๆฅตใ‚ใฆใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200982" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sepiapterin reductase deficiency"@en, "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Sepiapterin reductase deficiency"@en, "ใ›ใดใ‚ใทใฆใ‚Šใ‚“ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "SRD"@en, "๏ผณ๏ผฒๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0012994 ; + skos:closeMatch obo:MONDO_0012994 ; skos:prefLabel "ใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200983 - :hasNotificationNumber "320" ; - terms:description "็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚GPIใŒๆฌ ๆใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ใฎๅ…จใฆใฎ่›‹็™ฝ่ณชใŒ็ดฐ่ƒž่กจ้ขใซ็™บ็พใงใใชใ„ใ€‚็พๅœจใพใงใซ27ๅ€‹ใฎ้บไผๅญใŒGPIใ‚ขใƒณใ‚ซใƒผๅž‹่›‹็™ฝ่ณชใฎ็”Ÿๅˆๆˆใ‚„ใ€ไฟฎ้ฃพใซๅฟ…่ฆใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡๏ผˆInherited GPI deficienc๏ฝ™๏ผšIGD๏ผ‰ใŒๆฌกใ€…ใจ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€็พๅœจใพใงใซ15็จฎ้กžใฎ้บไผๅญใซใ‚ˆใ‚‹IGDใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200983" ; - terms:source ; - a owl:Class ; - rdfs:label "Inherited GPI deficiency"@en, "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "GPIๆฌ ๆ็—‡"@ja, "IGD"@en ; + + nando:hasNotificationNumber "320" ; + dcterms:description "็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚GPIใŒๆฌ ๆใ™ใ‚‹ใจใ“ใ‚Œใ‚‰ใฎๅ…จใฆใฎ่›‹็™ฝ่ณชใŒ็ดฐ่ƒž่กจ้ขใซ็™บ็พใงใใชใ„ใ€‚็พๅœจใพใงใซ27ๅ€‹ใฎ้บไผๅญใŒGPIใ‚ขใƒณใ‚ซใƒผๅž‹่›‹็™ฝ่ณชใฎ็”Ÿๅˆๆˆใ‚„ใ€ไฟฎ้ฃพใซๅฟ…่ฆใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡๏ผˆInherited GPI deficienc๏ฝ™๏ผšIGD๏ผ‰ใŒๆฌกใ€…ใจ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€็พๅœจใพใงใซ15็จฎ้กžใฎ้บไผๅญใซใ‚ˆใ‚‹IGDใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200983" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Inherited glycosylphosphatidylinositol deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "IGD"@en, "ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0012465 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡"@ja . -:1200984 - :hasNotificationNumber "321" ; - terms:description "ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใงใ‚ใ‚‹ใ‚ฐใƒชใ‚ทใƒณใ‚’ๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ—ใฆใ„ใ‚‹ใŸใ‚ใซไฝ“ๅ†…ใซใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒๆ•ฐๆ—ฅใงๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€ใชใฉ่„ณ็—‡ๆง˜ใฎ็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไธญๆžข็ฅž็ตŒ็ณปใฎ้šœๅฎณใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคง้ƒจๅˆ†ใ‚’ๅ ใ‚ใ€่‚่‡“ใ‚„่…Ž่‡“ใชใฉใฎไป–ใฎ่‡“ๅ™จ้šœๅฎณใฏๅŸบๆœฌ็š„ใซ่ชใ‚ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ€ฅๆ€งๆœŸใฎ็—‡็Šถใฏ้‡็ฏคใงใ‚ใ‚Šใ€ๅคง้ƒจๅˆ†ใฎ็—‡ไพ‹ใงไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใŒๅฟ…่ฆใซใชใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸใ‚’่„ฑใ—ใŸๅพŒใฏไธญๆžข็ฅž็ตŒใฎ้šœๅฎณใ‚’ๆฎ‹ใ™ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็™‚้คŠใŒๅฟ…่ฆใซใชใ‚‹ใ€‚็™บ็—‡ใซ็”ทๅฅณๅทฎใฏใชใใ€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็—‡้ ปๅบฆใฏ50๏ฝž100ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200984" ; - terms:source ; - a owl:Class ; - rdfs:label "nonketotic hyperglycinemia"@en, "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , , , ; - rdfs:subClassOf ; - skos:altLabel "NKH"@en ; - skos:closeMatch mondo:MONDO_0011612 ; + + nando:hasNotificationNumber "321" ; + dcterms:description "ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใงใ‚ใ‚‹ใ‚ฐใƒชใ‚ทใƒณใ‚’ๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ—ใฆใ„ใ‚‹ใŸใ‚ใซไฝ“ๅ†…ใซใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ€ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒๆ•ฐๆ—ฅใงๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธๅ›ฐ้›ฃใ€ใชใฉ่„ณ็—‡ๆง˜ใฎ็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไธญๆžข็ฅž็ตŒ็ณปใฎ้šœๅฎณใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคง้ƒจๅˆ†ใ‚’ๅ ใ‚ใ€่‚่‡“ใ‚„่…Ž่‡“ใชใฉใฎไป–ใฎ่‡“ๅ™จ้šœๅฎณใฏๅŸบๆœฌ็š„ใซ่ชใ‚ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ€ฅๆ€งๆœŸใฎ็—‡็Šถใฏ้‡็ฏคใงใ‚ใ‚Šใ€ๅคง้ƒจๅˆ†ใฎ็—‡ไพ‹ใงไบบๅทฅๅ‘ผๅธๅ™จใซใ‚ˆใ‚‹ๅ‘ผๅธ็ฎก็†ใŒๅฟ…่ฆใซใชใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸใ‚’่„ฑใ—ใŸๅพŒใฏไธญๆžข็ฅž็ตŒใฎ้šœๅฎณใ‚’ๆฎ‹ใ™ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็™‚้คŠใŒๅฟ…่ฆใซใชใ‚‹ใ€‚็™บ็—‡ใซ็”ทๅฅณๅทฎใฏใชใใ€ๆˆ‘ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็—‡้ ปๅบฆใฏ50๏ฝž100ไธ‡ๅ‡บ็”Ÿใซ๏ผ‘ไบบใจๆŽจๅฎšใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200984" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nonketotic hyperglycinemia"@en, "ใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:altLabel "NKH"@en, "Nonketotic hyperglycinaemia"@en ; + skos:closeMatch obo:MONDO_0011612 ; skos:prefLabel "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja . -:1200985 - :hasNotificationNumber "321" ; - terms:identifier "1200985" ; - terms:source ; + + nando:hasNotificationNumber "321" ; + dcterms:identifier "NANDO:1200985" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neonatal nonketotic hyperglycinemia"@en, "ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Neonatal nonketotic hyperglycinemia"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Neonatal nonketotic hyperglycinaemia"@en ; + skos:closeMatch obo:MONDO_0017353 ; skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja . -:1200986 - :hasNotificationNumber "321" ; - terms:identifier "1200986" ; - terms:source ; + + nando:hasNotificationNumber "321" ; + dcterms:identifier "NANDO:1200986" ; + dcterms:source ; a owl:Class ; - rdfs:label "infantile nonketotic hyperglycinemia"@en, "ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Infantile nonketotic hyperglycinemia"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Infantile nonketotic hyperglycinaemia"@en ; + skos:closeMatch obo:MONDO_0017354 ; skos:prefLabel "ไนณๅ…ๅž‹้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja . -:1200987 - :hasNotificationNumber "322" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆT2๏ผ‰ใฎๆฌ ๆ็—‡ใงใ€ๅๅพฉๆ€งใฎ้‡็ฏคใชใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใฎใ‚นใƒ†ใƒƒใƒ—ใจใ‚ฑใƒˆใƒณไฝ“ใฎ่‚่‡“ๅค–็ต„็น”ใงใฎๅˆฉ็”จใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1200987" ; - terms:source ; - a owl:Class ; - rdfs:label "beta-ketothiolase deficiency"@en, "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008760 ; + + nando:hasNotificationNumber "322" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆT2๏ผ‰ใฎๆฌ ๆ็—‡ใงใ€ๅๅพฉๆ€งใฎ้‡็ฏคใชใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใฎใ‚นใƒ†ใƒƒใƒ—ใจใ‚ฑใƒˆใƒณไฝ“ใฎ่‚่‡“ๅค–็ต„็น”ใงใฎๅˆฉ็”จใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200987" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Beta-ketothiolase deficiency"@en, "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja, "ในใƒผใŸใ‘ใจใกใŠใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "ฮฒ-ketothiolase deficiency"@en ; + skos:closeMatch obo:MONDO_0008760 ; skos:prefLabel "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:1200988 - :hasNotificationNumber "323" ; - terms:description "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๏ผˆAromatic L-amino acid decarboxylase๏ผšAADC๏ผ‰ใฏL-ใƒ‰ใƒผใƒ‘๏ผˆL-DOPA๏ผ‰ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5โˆ’ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-hydroxytryptophan๏ผš5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใซๅฟ…้ ˆใฎ้…ต็ด ใงใ‚ใ‚‹ใ€‚ใใฎๆฌ ๆ็—‡ใฎๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžๅŠใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎใƒ›ใƒขใƒใƒชใƒ‹ใƒณ้…ธ๏ผˆhomovanillic acid๏ผšHVA๏ผ‰ๅŠใณใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใ‚คใƒณใƒ‰ใƒผใƒซ้…ข้…ธ๏ผˆ5-hydroxyindolacetic acid๏ผš5-HIAA๏ผ‰ใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎ็„กใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚"@ja ; - terms:identifier "1200988" ; - terms:source ; + + nando:hasNotificationNumber "323" ; + dcterms:description "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๏ผˆAromatic L-amino acid decarboxylase๏ผšAADC๏ผ‰ใฏL-ใƒ‰ใƒผใƒ‘๏ผˆL-DOPA๏ผ‰ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5โˆ’ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-hydroxytryptophan๏ผš5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใซๅฟ…้ ˆใฎ้…ต็ด ใงใ‚ใ‚‹ใ€‚ใใฎๆฌ ๆ็—‡ใฎๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžๅŠใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎใƒ›ใƒขใƒใƒชใƒ‹ใƒณ้…ธ๏ผˆhomovanillic acid๏ผšHVA๏ผ‰ๅŠใณใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใ‚คใƒณใƒ‰ใƒผใƒซ้…ข้…ธ๏ผˆ5-hydroxyindolacetic acid๏ผš5-HIAA๏ผ‰ใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎ็„กใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200988" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aromatic L-amino acid decarboxylase deficiency"@en, "่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012084 ; + rdfs:label "Aromatic L-amino acid decarboxylase deficiency"@en, "ใปใ†ใ“ใ†ใžใใˆใ‚‹ใ‚ใฟใฎใ•ใ‚“ใ ใคใŸใ‚“ใ•ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012084 ; skos:prefLabel "่Šณ้ฆ™ๆ—L๏ผใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡"@ja . -:1200989 - :hasNotificationNumber "324" ; - terms:description "ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’ๆฅใ™็–พๆ‚ฃใ‚’็ทใ˜ใฆใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใฆใŠใ‚Šใ€็•ฐ่ณชๆ€งใŒ้ซ˜ใใ€็พๅœจ๏ผ•ใคใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ใฏใ€ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผใฏใƒญใ‚คใ‚ทใƒณไปฃ่ฌใฎ๏ผ•ๆฎต้šŽ็›ฎใซไฝ็ฝฎใ—ใ€Iๅž‹ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚IIๅž‹ใฏBarth็—‡ๅ€™็พคใ€IIIๅž‹ใฏCosteff็—‡ๅ€™็พคใซใ‚ใŸใ‚‹๏ผˆใใ‚Œใžใ‚ŒX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€‚ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’่ชใ‚ใชใŒใ‚‰ใ€Iใ€IIใ€IIIๅž‹ใซใ‚ใŸใ‚‰ใชใ„ใ‚‚ใฎใŒIVๅž‹ใจใ•ใ‚Œใ€็จฎใ€…ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธ็—‡ใŒIVๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใจๅฐ่„ณๅคฑ่ชฟใ‚’ไผดใ†็–พๆ‚ฃ็พค๏ผˆDCMA็—‡ๅ€™็พค๏ผ‰ใŒVๅž‹ใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ๏ผˆIVๅž‹ใ€Vๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจใ—ใฆๆ‰ฑใ†ใ€‚๏ผ‰ใ€‚"@ja ; - terms:identifier "1200989" ; + + nando:hasNotificationNumber "324" ; + dcterms:description "ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’ๆฅใ™็–พๆ‚ฃใ‚’็ทใ˜ใฆใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡ใจๅ‘ผ็งฐใ•ใ‚ŒใฆใŠใ‚Šใ€็•ฐ่ณชๆ€งใŒ้ซ˜ใใ€็พๅœจ๏ผ•ใคใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹ใฏใ€ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผใฏใƒญใ‚คใ‚ทใƒณไปฃ่ฌใฎ๏ผ•ๆฎต้šŽ็›ฎใซไฝ็ฝฎใ—ใ€Iๅž‹ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใฎๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚IIๅž‹ใฏBarth็—‡ๅ€™็พคใ€IIIๅž‹ใฏCosteff็—‡ๅ€™็พคใซใ‚ใŸใ‚‹๏ผˆใใ‚Œใžใ‚ŒX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€‚ๅฐฟไธญใซใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธใฎๆŽ’ๆณ„ใ‚’่ชใ‚ใชใŒใ‚‰ใ€Iใ€IIใ€IIIๅž‹ใซใ‚ใŸใ‚‰ใชใ„ใ‚‚ใฎใŒIVๅž‹ใจใ•ใ‚Œใ€็จฎใ€…ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธ็—‡ใŒIVๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใจๅฐ่„ณๅคฑ่ชฟใ‚’ไผดใ†็–พๆ‚ฃ็พค๏ผˆDCMA็—‡ๅ€™็พค๏ผ‰ใŒVๅž‹ใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ๏ผˆIVๅž‹ใ€Vๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจใ—ใฆๆ‰ฑใ†ใ€‚๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:1200989" ; a owl:Class ; - rdfs:label "Methylglutaconic aciduria"@en, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Methylglutaconic aciduria"@en, "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017359 ; skos:prefLabel "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡"@ja . -:1200990 - :hasNotificationNumber "324" ; - terms:identifier "1200990" ; - terms:source ; + + nando:hasNotificationNumber "324" ; + dcterms:identifier "NANDO:1200990" ; + dcterms:source ; a owl:Class ; - rdfs:label "3-methylglutaconic aciduria type I"@en, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "3-methylglutaconic aciduria type I"@en, "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "3-methylglutaconyl-CoA hydratase deficiency"@en, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009610 ; + skos:closeMatch obo:MONDO_0009610 ; skos:prefLabel "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡Iๅž‹"@ja . -:1200991 - :hasNotificationNumber "324" ; - terms:identifier "1200991" ; - terms:source ; + + nando:hasNotificationNumber "324" ; + dcterms:identifier "NANDO:1200991" ; + dcterms:source ; a owl:Class ; - rdfs:label "3-methylglutaconicaciduria type II"@en, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "3-methylglutaconicaciduria type II"@en, "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Barth syndrome"@en, "Barth็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010543 ; + skos:closeMatch obo:MONDO_0010543 ; skos:prefLabel "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIๅž‹"@ja . -:1200992 - :hasNotificationNumber "324" ; - terms:identifier "1200992" ; - terms:source ; + + nando:hasNotificationNumber "324" ; + dcterms:identifier "NANDO:1200992" ; + dcterms:source ; a owl:Class ; - rdfs:label "3-methylglutaconic aciduria type III"@en, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "3-methylglutaconic aciduria type III"@en, "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Costeff syndrome"@en, "Costeff็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009787 ; + skos:closeMatch obo:MONDO_0009787 ; skos:prefLabel "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡IIIๅž‹"@ja . -:1200993 - :hasNotificationNumber "325" ; - terms:description "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฏใ€่‡ช็„ถๅ…็–ซ็ณปใซ้–ขใ‚ใ‚‹้บไผๅญ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใ€็”Ÿๆถฏใซใ‚ใŸใ‚ŠๆŒ็ถšใ™ใ‚‹็‚Ž็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆˆไบบๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹็–พ็—…ใฎใ†ใกใ€ๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พคใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€้ซ˜IgD็—‡ๅ€™็พคใ€ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พคใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ‚’้™คใ„ใŸใ€NLRC๏ผ”็•ฐๅธธ็—‡ใ€ADA๏ผ’๏ผˆAdenosine deaminase ๏ผ’๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค๏ผˆAicardi-Goutiรจresใ€€Syndrome๏ผšAGS๏ผ‰ใ€A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ADA๏ผ’ๆฌ ๆ็—‡ใงใฏใ€ไธปใซไธญๅ‹•่„ˆใซ็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใซ้กžไผผใ—ใŸๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พคใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ‚ใ‚Šใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใฏใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชA20ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅๅพฉๆ€งๅฃ่…”ๅ†…ใ‚ขใƒ•ใ‚ฟใ€็™บ็†ฑใ€้–ข็ฏ€็—›ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜็ญ‰ใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…้กžไผผ็—‡็Šถใ‚’่‹ฅๅนดใง็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1200993" ; + + nando:hasNotificationNumber "325" ; + dcterms:description "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฏใ€่‡ช็„ถๅ…็–ซ็ณปใซ้–ขใ‚ใ‚‹้บไผๅญ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใ€็”Ÿๆถฏใซใ‚ใŸใ‚ŠๆŒ็ถšใ™ใ‚‹็‚Ž็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏใ€ๆˆไบบๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹็–พ็—…ใฎใ†ใกใ€ๆ—ขใซๆŒ‡ๅฎš้›ฃ็—…ใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พคใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€้ซ˜IgD็—‡ๅ€™็พคใ€ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พคใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ‚’้™คใ„ใŸใ€NLRC๏ผ”็•ฐๅธธ็—‡ใ€ADA๏ผ’๏ผˆAdenosine deaminase ๏ผ’๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค๏ผˆAicardi-Goutiรจresใ€€Syndrome๏ผšAGS๏ผ‰ใ€A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ADA๏ผ’ๆฌ ๆ็—‡ใงใฏใ€ไธปใซไธญๅ‹•่„ˆใซ็‚Ž็—‡ใŒ่ตทใ“ใ‚Šใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žใซ้กžไผผใ—ใŸๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พคใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ‚ใ‚Šใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚A20ใƒใƒ—ใƒญไธๅ…จ็—‡ใฏใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชA20ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅๅพฉๆ€งๅฃ่…”ๅ†…ใ‚ขใƒ•ใ‚ฟใ€็™บ็†ฑใ€้–ข็ฏ€็—›ใ€ๆถˆๅŒ–็ฎกๆฝฐ็˜็ญ‰ใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…้กžไผผ็—‡็Šถใ‚’่‹ฅๅนดใง็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200993" ; a owl:Class ; - rdfs:label "Hereditary autoinflammatory syndrome"@en, "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "hereditary autoinflammatory diseases"@en ; + rdfs:label "Hereditary autoinflammatory syndrome"@en, "ใ„ใงใ‚“ใ›ใ„ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ—ใฃใ‹ใ‚“"@ja-Hira, "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hereditary autoinflammatory diseases"@en ; skos:prefLabel "้บไผๆ€ง่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ"@ja . -:1200994 - :hasNotificationNumber "325" ; - terms:identifier "1200994" ; - terms:source ; + + nando:hasNotificationNumber "325" ; + dcterms:identifier "NANDO:1200994" ; + dcterms:source ; a owl:Class ; - rdfs:label "NLRC4 inflammasomopathies"@en, "NLRC๏ผ”็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "NLRC4 mutation"@en, "NLRC๏ผ”็•ฐๅธธ็—‡"@ja, "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใ—ใƒผ4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0014472 ; skos:prefLabel "NLRC๏ผ”็•ฐๅธธ็—‡"@ja . -:1200995 - :hasNotificationNumber "325" ; - terms:identifier "1200995" ; - terms:source ; - a owl:Class ; - rdfs:label "ADA๏ผ’ๆฌ ๆ็—‡"@ja, "Adenosine deaminase 2 deficiency"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0014306 ; - skos:prefLabel "ADA๏ผ’ๆฌ ๆ็—‡"@ja . - -:1200996 - :hasNotificationNumber "325" ; - terms:identifier "1200996" ; - terms:source ; - a owl:Class ; - rdfs:label "Aicardi-Goutiรจresใ€€Syndrome"@en, "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "AGS"@en ; - skos:closeMatch mondo:MONDO_0009165, mondo:MONDO_0018866 ; + + nando:hasNotificationNumber "325" ; + dcterms:identifier "NANDO:1200995" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ADA2ๆฌ ๆ็—‡"@ja, "Adenosine deaminase 2 deficiency"@en, "ใˆใƒผใงใƒใƒผใˆใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ADA2 deficiency"@en ; + skos:closeMatch obo:MONDO_0014306 ; + skos:prefLabel "ADA2ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "325" ; + dcterms:identifier "NANDO:1200996" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aicardi-Goutiรจres Syndrome"@en, "ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "AGS"@en, "Aicardi-Goutieres็—‡ๅ€™็พค"@ja, "Aicardi-Goutiรจres็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018866 ; skos:prefLabel "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja . -:1200997 - :hasNotificationNumber "325" ; - terms:identifier "1200997" ; - terms:source ; + + nando:hasNotificationNumber "325" ; + dcterms:identifier "NANDO:1200997" ; + dcterms:source ; a owl:Class ; - rdfs:label "A20 haploinsufficiency"@en, "A20ใƒใƒ—ใƒญไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "A20 haploinsufficiency"@en, "A20ใƒใƒ—ใƒญไธๅ…จ็—‡"@ja, "ใˆใƒผ20ใฏใทใ‚ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HA20"@en ; + skos:closeMatch obo:MONDO_0100222 ; skos:prefLabel "A20ใƒใƒ—ใƒญไธๅ…จ็—‡"@ja . -:1200998 - :hasNotificationNumber "326" ; - terms:description "ๅคง็†็Ÿณ้ชจ็—…ใฏใ€็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚‹้ชจๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็ ด้ชจ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ใฏๅคš็›ธใงใ‚ใ‚‹ใŸใ‚ใ€้บไผ็š„็•ฐ่ณชๆ€งใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€็—‡็Šถใ‚‚ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹๏ผไนณๅ…ๅž‹ใ€ไธญ็ญ‰ๅบฆใฎไธญ้–“ๅž‹ใ€่ปฝ็—‡ใฎ้…็™บๅž‹ใพใงๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ๆœช็†Ÿ้ชจ๏ผˆไธ€ๆฌก้ชจๆข๏ผ‰ใฎๆˆ็†Ÿ้ชจ๏ผˆ็ทปๅฏ†้ชจ๏ผ‰ใธใฎ็ฝฎๆ›ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœใ€ๆœช็†Ÿ้ชจใง่ฆ†ใ„ๅฐฝใใ•ใ‚ŒใŸ้ชจใฏ็กฌๅŒ–ใ—ใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่„†ใ„ใ€‚ใพใŸใ€้Žๅ‰ฐใชๆœช็†Ÿ้ชจใฏ้ชจ้ซ„่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€้ชจ้ซ„ๆฉŸ่ƒฝไธๅ…จ๏ผˆ่ฒง่ก€ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่‚่„พ่…ซใชใฉ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ญ่“‹ๅบ•ใฎ้ชจ่‚ฅๅŽšใซใ‚ˆใ‚‹่„ณ็ฅž็ตŒ็—‡็Šถ๏ผˆ้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€้ก”้ข็ฅž็ตŒ้บป็—บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1200998" ; - terms:source ; + + nando:hasNotificationNumber "326" ; + dcterms:description "ๅคง็†็Ÿณ้ชจ็—…ใฏใ€็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚‹้ชจๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็ ด้ชจ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ใฏๅคš็›ธใงใ‚ใ‚‹ใŸใ‚ใ€้บไผ็š„็•ฐ่ณชๆ€งใฎ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€็—‡็Šถใ‚‚ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹๏ผไนณๅ…ๅž‹ใ€ไธญ็ญ‰ๅบฆใฎไธญ้–“ๅž‹ใ€่ปฝ็—‡ใฎ้…็™บๅž‹ใพใงๅคšๆง˜ใงใ‚ใ‚‹ใ€‚ๆœช็†Ÿ้ชจ๏ผˆไธ€ๆฌก้ชจๆข๏ผ‰ใฎๆˆ็†Ÿ้ชจ๏ผˆ็ทปๅฏ†้ชจ๏ผ‰ใธใฎ็ฝฎๆ›ใŒ้šœๅฎณใ•ใ‚Œใ‚‹็ตๆžœใ€ๆœช็†Ÿ้ชจใง่ฆ†ใ„ๅฐฝใใ•ใ‚ŒใŸ้ชจใฏ็กฌๅŒ–ใ—ใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่„†ใ„ใ€‚ใพใŸใ€้Žๅ‰ฐใชๆœช็†Ÿ้ชจใฏ้ชจ้ซ„่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€้ชจ้ซ„ๆฉŸ่ƒฝไธๅ…จ๏ผˆ่ฒง่ก€ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ€่‚่„พ่…ซใชใฉ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ญ่“‹ๅบ•ใฎ้ชจ่‚ฅๅŽšใซใ‚ˆใ‚‹่„ณ็ฅž็ตŒ็—‡็Šถ๏ผˆ้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€้ก”้ข็ฅž็ตŒ้บป็—บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200998" ; + dcterms:source ; a owl:Class ; - rdfs:label "Osteopetrosis"@en, "ๅคง็†็Ÿณ้ชจ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017198 ; + rdfs:label "Osteopetrosis"@en, "ใ ใ„ใ‚Šใ›ใใ“ใคใณใ‚‡ใ†"@ja-Hira, "ๅคง็†็Ÿณ้ชจ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017198 ; skos:prefLabel "ๅคง็†็Ÿณ้ชจ็—…"@ja . -:1200999 - :hasNotificationNumber "327" ; - terms:description "็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "1200999" ; - terms:source ; + + nando:hasNotificationNumber "327" ; + dcterms:description "็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1200999" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic thrombosis ๏ผˆinherited cause of thrombosis๏ผ‰๏ผˆneonates, infants๏ผ‰"@en, "็‰น็™บๆ€ง่ก€ๆ “็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Idiopathic thrombosis"@en ; + rdfs:label "Idiopathic thrombosis (due to inherited predisposition to thrombosis) (neonates, infants)"@en, "ใจใใฏใคใ›ใ„ใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€ง่ก€ๆ “็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็‰น็™บๆ€ง่ก€ๆ “็—‡"@ja . -:1201000 - :hasNotificationNumber "328" ; - terms:description "ๅ‰็œผ้ƒจใฎ็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๆ€งใซ่ง’่†œๆททๆฟใ‚’ๆฅใ—ใ€่ฆ–ๅŠ›้šœๅฎณใ€่ฆ–ๆฉŸ่ƒฝ็™บ้”็•ฐๅธธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "1201000" ; - terms:source ; - a owl:Class ; - rdfs:label "Anterior segment dysgenesis"@en, "ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ASGD1"@en ; - skos:closeMatch mondo:MONDO_0007138, mondo:MONDO_0019503 ; + + nando:hasNotificationNumber "328" ; + dcterms:description "ๅ‰็œผ้ƒจใฎ็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๆ€งใซ่ง’่†œๆททๆฟใ‚’ๆฅใ—ใ€่ฆ–ๅŠ›้šœๅฎณใ€่ฆ–ๆฉŸ่ƒฝ็™บ้”็•ฐๅธธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201000" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Anterior segment dysgenesis"@en, "ใœใ‚“ใŒใ‚“ใถใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†"@ja-Hira, "ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ASD"@en, "ASGD1"@en ; + skos:closeMatch obo:MONDO_0019503 ; skos:prefLabel "ๅ‰็œผ้ƒจๅฝขๆˆ็•ฐๅธธ"@ja . -:1201001 - :hasNotificationNumber "329" ; - terms:description "็„ก่™นๅฝฉ็—‡ใฏ่™นๅฝฉใŒๅฎŒๅ…จใพใŸใฏไธๅฎŒๅ…จใซๆฌ ๆใ—ใฆใ„ใ‚‹ใ“ใจใง่ฆ‹ๅ‡บใ•ใ‚Œใ‚‹้บไผๆ€ง็–พ็—…ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚่ฒฌไปป้บไผๅญใฏPAX6้บไผๅญใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰ไธก็œผๆ€งใฎๅผทใ„่ฆ–ๅŠ›ไธ่‰ฏใ‚’่ชใ‚ใ€ๅคงๅŠใŒ่ฆ–่ฆš้šœๅฎณๅ…ใจใชใ‚‹ใ€‚ๆœฌ็–พ็—…ใฎ็™บ็—‡้ ปๅบฆใฏ10ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏใชใ„ใ€‚ๆ‚ฃ่€…ใฎ๏ผ˜ๅ‰ฒ็จ‹ๅบฆใŒๅฎถๆ—ๆ€งใซ็™บ็—‡ใ—ใฆใŠใ‚Šใ€ๆฎ‹ใ‚‹๏ผ’ๅ‰ฒใฏๆ•ฃ็™บๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "1201001" ; - terms:source ; + + nando:hasNotificationNumber "329" ; + dcterms:description "็„ก่™นๅฝฉ็—‡ใฏ่™นๅฝฉใŒๅฎŒๅ…จใพใŸใฏไธๅฎŒๅ…จใซๆฌ ๆใ—ใฆใ„ใ‚‹ใ“ใจใง่ฆ‹ๅ‡บใ•ใ‚Œใ‚‹้บไผๆ€ง็–พ็—…ใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚่ฒฌไปป้บไผๅญใฏPAX6้บไผๅญใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰ไธก็œผๆ€งใฎๅผทใ„่ฆ–ๅŠ›ไธ่‰ฏใ‚’่ชใ‚ใ€ๅคงๅŠใŒ่ฆ–่ฆš้šœๅฎณๅ…ใจใชใ‚‹ใ€‚ๆœฌ็–พ็—…ใฎ็™บ็—‡้ ปๅบฆใฏ10ไธ‡ไบบใซ๏ผ‘ไบบใจใ•ใ‚Œใ€ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏใชใ„ใ€‚ๆ‚ฃ่€…ใฎ๏ผ˜ๅ‰ฒ็จ‹ๅบฆใŒๅฎถๆ—ๆ€งใซ็™บ็—‡ใ—ใฆใŠใ‚Šใ€ๆฎ‹ใ‚‹๏ผ’ๅ‰ฒใฏๆ•ฃ็™บๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201001" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aniridia"@en, "็„ก่™นๅฝฉ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019172 ; + rdfs:label "Aniridia"@en, "ใ‚€ใ“ใ†ใ•ใ„ใ—ใ‚‡ใ†"@ja-Hira, "็„ก่™นๅฝฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019172 ; skos:prefLabel "็„ก่™นๅฝฉ็—‡"@ja . -:1201002 - :hasNotificationNumber "330" ; - terms:description "ๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅ–‰้ ญ๏ผ‰ใจไธ‹ๆฐ—้“๏ผˆๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏๅฃฐ้–€ไธ‹่…”ใ‚„ๆฐ—็ฎกใซๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ใ‚„ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚ๅคšใใŒๆ•‘ๅ‘ฝใฎใŸใ‚็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใฏ้™คใใ€‚"@ja ; - terms:identifier "1201002" ; + + nando:hasNotificationNumber "330" ; + dcterms:description "ๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅ–‰้ ญ๏ผ‰ใจไธ‹ๆฐ—้“๏ผˆๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆŒ‡ๅฎš้›ฃ็—…ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏๅฃฐ้–€ไธ‹่…”ใ‚„ๆฐ—็ฎกใซๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡ใ‚„ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใช็–พ็—…ใงใ‚ใ‚‹ใ€‚ๅคšใใŒๆ•‘ๅ‘ฝใฎใŸใ‚็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใฏ้™คใใ€‚"@ja ; + dcterms:identifier "NANDO:1201002" ; a owl:Class ; - rdfs:label "Congenital tracheal stenosis/Congenital Subglottic Stenosis"@en, "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Congenital tracheal stenosis/congenital subglottic stenosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†๏ผใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡๏ผๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja . -:1201003 - :hasNotificationNumber "330" ; - terms:identifier "1201003" ; - terms:source ; + + nando:hasNotificationNumber "330" ; + dcterms:identifier "NANDO:1201003" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital tracheal stenosis"@en, "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Congenital tracheal stenosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "CTS"@en ; - skos:closeMatch mondo:MONDO_0007275, mondo:MONDO_0011340, mondo:MONDO_0020730 ; + skos:closeMatch obo:MONDO_0011340 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆฐ—็ฎก็‹ญ็ช„็—‡"@ja . -:1201004 - :hasNotificationNumber "330" ; - terms:identifier "1201004" ; - terms:source ; + + nando:hasNotificationNumber "330" ; + dcterms:identifier "NANDO:1201004" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital Subglottic Stenosis"@en, "ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015395 ; + rdfs:label "Congenital subglottic stenosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015395 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja . -:1201005 - :hasNotificationNumber "331" ; - terms:description "ใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ๏ผŒใƒชใƒณใƒ‘็ฏ€ใฎ็—…็†็ต„็น”ๅƒใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅคšใ‚ฏใƒญใƒผใƒณๆ€งใฎใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็—…ๅค‰ใŒ1ใคใฎ้ ˜ๅŸŸใซ้™ๅฑ€ใ™ใ‚‹ๅ˜ไธญๅฟƒๆ€ง๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใจ๏ผŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซๅบƒใŒใ‚‹ๅคšไธญๅฟƒๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚‰ใฏ่‡จๅบŠๅƒใ‚„ๆฒป็™‚ๆณ•ใŒๅคงใใ็•ฐใชใ‚‹ใ€‚ๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฎใ†ใกใ€ใƒ’ใƒˆใƒปใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผ˜ๅž‹ๆ„ŸๆŸ“ใŒใฟใ‚‰ใ‚Œใชใ„ๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใŒ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใจใ—ใฆๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใฆๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ้ซ˜ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณ๏ผ–่ก€็—‡ใซใ‚ˆใ‚‹็™บ็†ฑใ‚„ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€่ฒง่ก€ใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšใใฎๅ ดๅˆใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "1201005" ; - terms:source ; + + nando:hasNotificationNumber "331" ; + dcterms:description "ใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ๏ผŒใƒชใƒณใƒ‘็ฏ€ใฎ็—…็†็ต„็น”ๅƒใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅคšใ‚ฏใƒญใƒผใƒณๆ€งใฎใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็—…ๅค‰ใŒ1ใคใฎ้ ˜ๅŸŸใซ้™ๅฑ€ใ™ใ‚‹ๅ˜ไธญๅฟƒๆ€ง๏ผˆ้™ๅฑ€ๅž‹๏ผ‰ใจ๏ผŒ่ค‡ๆ•ฐใฎ้ ˜ๅŸŸใซๅบƒใŒใ‚‹ๅคšไธญๅฟƒๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚‰ใฏ่‡จๅบŠๅƒใ‚„ๆฒป็™‚ๆณ•ใŒๅคงใใ็•ฐใชใ‚‹ใ€‚ๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฎใ†ใกใ€ใƒ’ใƒˆใƒปใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผ˜ๅž‹ๆ„ŸๆŸ“ใŒใฟใ‚‰ใ‚Œใชใ„ๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใŒ็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใจใ—ใฆๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใฆๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…ใฏ้ซ˜ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณ๏ผ–่ก€็—‡ใซใ‚ˆใ‚‹็™บ็†ฑใ‚„ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€่ฒง่ก€ใชใฉใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšใใฎๅ ดๅˆใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201005" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic multicentric Castleman's disease"@en, "็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019754 ; + rdfs:label "Idiopathic multicentric Castleman's disease"@en, "ใจใใฏใคใ›ใ„ใŸใกใ‚…ใ†ใ—ใ‚“ใ›ใ„ใใ‚ƒใฃใ™ใ‚‹ใพใ‚“ใณใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็‰น็™บๆ€งๅคšไธญๅฟƒๆ€งใ‚ญใƒฃใƒƒใ‚นใƒซใƒžใƒณ็—…"@ja . -:1201006 - :hasNotificationNumber "332" ; - terms:description "่ง’่†œๅฎŸ่ณชใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็œผ็—›ใชใฉใฎไธๅฟซๆ„Ÿใจใจใ‚‚ใซ่‘—ๆ˜Žใช่ฆ–ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบๅ”†ใ™ใ‚‹ๅฎถๆ—ๆญด(ๅ…„ๅผŸๅง‰ๅฆน้–“ใฎๅฎถ็ณปๅ†…็™บ็—‡ใ€ไธก่ฆชใฎ่ก€ๆ—ๅฉšใชใฉ)ใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ€TACSTD2้บไผๅญใฎไธกใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๆ€งๅค‰็•ฐใซใ‚ˆใ‚‹่ง’่†œไธŠ็šฎใƒใƒชใ‚ขๆฉŸ่ƒฝใฎ็ ด็ถปใŒๅŽŸๅ› ใจใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "1201006" ; - terms:source ; - a owl:Class ; - rdfs:label "gelatinous drop-like corneal dystrophy"@en, "่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008777 ; + + nando:hasNotificationNumber "332" ; + dcterms:description "่ง’่†œๅฎŸ่ณชใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็œผ็—›ใชใฉใฎไธๅฟซๆ„Ÿใจใจใ‚‚ใซ่‘—ๆ˜Žใช่ฆ–ๅŠ›ไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบๅ”†ใ™ใ‚‹ๅฎถๆ—ๆญด(ๅ…„ๅผŸๅง‰ๅฆน้–“ใฎๅฎถ็ณปๅ†…็™บ็—‡ใ€ไธก่ฆชใฎ่ก€ๆ—ๅฉšใชใฉ)ใ‚’่ชใ‚ใ‚‹้บไผๆ€ง่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ€TACSTD2้บไผๅญใฎไธกใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๆ€งๅค‰็•ฐใซใ‚ˆใ‚‹่ง’่†œไธŠ็šฎใƒใƒชใ‚ขๆฉŸ่ƒฝใฎ็ ด็ถปใŒๅŽŸๅ› ใจใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201006" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gelatinous drop-like corneal dystrophy"@en, "ใ“ใ†ใ‚ˆใ†ใฆใใ˜ใ‚‡ใ†ใ‹ใใพใใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GDLD"@en ; + skos:closeMatch obo:MONDO_0008777 ; skos:prefLabel "่† ๆง˜ๆปด็Šถ่ง’่†œใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:1201007 - :hasNotificationNumber "333" ; - terms:description "้บไผๆ€งๆ—ฉ่€็—‡ใฎไธญใงๆœ€ใ‚‚็—‡็ŠถใŒ้‡็ฏคใช็–พๆ‚ฃใ€‚็”ŸๅพŒๅŠๅนดใ‹ใ‚‰๏ผ’ๅนดใงๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽๅŠใณๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณๅŠใณๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ14.6ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้›ฃ็—…็ ”็ฉถ็ญใฎๅ…จๅ›ฝ่ชฟๆŸปใง็ด„10ไบบใฎๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚ŒใฆใŠใ‚Šใ€ๆˆไบบไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ๅ›ฝๅ†…ใง20ๆญณใ‚’่ถ…ใˆใŸ็”Ÿๅญ˜ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบๆœŸใฎๅˆไฝต็—‡ใง้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใจใ—ใฆใฏใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃๅŠใณๅคš้‡ใŒใ‚“ใŒใ‚ใ‚Šใ€็‰นใซ่„ณ่ก€็ฎก้šœๅฎณใซใคใ„ใฆใฏ็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ™ใ‚‹ใจใ„ใ†็‰นๅพดใ‚’ๆŒใคใ€‚"@ja ; - terms:identifier "1201007" ; - terms:source ; + + nando:hasNotificationNumber "333" ; + dcterms:description "้บไผๆ€งๆ—ฉ่€็—‡ใฎไธญใงๆœ€ใ‚‚็—‡็ŠถใŒ้‡็ฏคใช็–พๆ‚ฃใ€‚็”ŸๅพŒๅŠๅนดใ‹ใ‚‰๏ผ’ๅนดใงๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽๅŠใณๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณๅŠใณๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ14.6ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้›ฃ็—…็ ”็ฉถ็ญใฎๅ…จๅ›ฝ่ชฟๆŸปใง็ด„10ไบบใฎๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚ŒใฆใŠใ‚Šใ€ๆˆไบบไพ‹ใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ๅ›ฝๅ†…ใง20ๆญณใ‚’่ถ…ใˆใŸ็”Ÿๅญ˜ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆไบบๆœŸใฎๅˆไฝต็—‡ใง้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใจใ—ใฆใฏใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃๅŠใณๅคš้‡ใŒใ‚“ใŒใ‚ใ‚Šใ€็‰นใซ่„ณ่ก€็ฎก้šœๅฎณใซใคใ„ใฆใฏ็นฐใ‚Š่ฟ”ใ—็™บ็—‡ใ™ใ‚‹ใจใ„ใ†็‰นๅพดใ‚’ๆŒใคใ€‚"@ja ; + dcterms:identifier "NANDO:1201007" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hutchinson-Gilford syndrome"@en, "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008310 ; + rdfs:label "Hutchinson-Gilford syndrome"@en, "ใฏใฃใกใ‚“ใใ‚“ใƒปใŽใ‚‹ใตใ‰ใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "HGPS"@en, "Hutchinson-Gilford progeria syndrome"@en ; + skos:closeMatch obo:MONDO_0008310 ; skos:prefLabel "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค"@ja . -:2000001 - terms:identifier "2000001" ; - a owl:Class ; - rdfs:label "specific chronic pediatric disease"@en, "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…"@ja . + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:1201008" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Limited form of granulomatosis with polyangiitis"@en, "ใ’ใ‚“ใใ‚‡ใใŒใŸใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "้™ๅฑ€ๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆ้™ๅฑ€ๅž‹๏ผ‰"@ja ; + skos:prefLabel "้™ๅฑ€ๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:1201009" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Systemic granulomatosis with polyangiitis"@en, "ใœใ‚“ใ—ใ‚“ใŒใŸใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…จ่บซๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡๏ผˆๅ…จ่บซๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0012105 ; + skos:prefLabel "ๅ…จ่บซๅž‹ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "51" ; + dcterms:identifier "NANDO:1201010" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Diffuse cutaneous systemic sclerosis"@en, "ใณใพใ‚“ใฒใตใ“ใ†ใ‹ใŒใŸใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†"@ja-Hira, "ใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "dcSSc"@en ; + skos:closeMatch obo:MONDO_0016356 ; + skos:prefLabel "ใณใพใ‚“็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja . + + + nando:hasNotificationNumber "51" ; + dcterms:identifier "NANDO:1201011" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Limited cutaneous systemic sclerosis"@en, "ใ’ใ‚“ใใ‚‡ใใฒใตใ“ใ†ใ‹ใŒใŸใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†"@ja-Hira, "้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "lcSSc"@en ; + skos:closeMatch obo:MONDO_0016358, obo:MONDO_0019563 ; + skos:prefLabel "้™ๅฑ€็šฎ่†š็กฌๅŒ–ๅž‹ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja . + + + nando:hasNotificationNumber "54" ; + dcterms:identifier "NANDO:1201012" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Monocyclic adult onset Still's disease"@en, "ใŸใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ๅ˜ๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "monocyclic AOSD"@en, "ๆˆไบบใ‚นใƒใƒซ็—…๏ผˆ่‡ช็„ถๅฏ›่งฃใ‚’็คบใ™ใ‚‚ใฎ๏ผ‰"@ja ; + skos:prefLabel "ๅ˜ๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…"@ja . + + + nando:hasNotificationNumber "54" ; + dcterms:identifier "NANDO:1201013" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Polycyclic adult onset Still's disease"@en, "ใŸใ—ใ‚…ใ†ใใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ๅคšๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "polycyclic AOSD"@en ; + skos:prefLabel "ๅคšๅ‘จๆœŸๆ€งๅ…จ่บซๅž‹ๆˆไบบใ‚นใƒใƒซ็—…"@ja . + + + nando:hasNotificationNumber "54" ; + dcterms:identifier "NANDO:1201014" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic articular adult onset Still's disease"@en, "ใพใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใŒใŸใ›ใ„ใ˜ใ‚“ใ™ใกใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้–ข็ฏ€ๅž‹ๆˆไบบใ‚นใƒใƒซ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€ง้–ข็ฏ€ๅž‹ๆˆไบบใ‚นใƒใƒซ็—…"@ja . + + + nando:hasNotificationNumber "56" ; + dcterms:identifier "NANDO:1201015" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Vascular Behรงet's Disease"@en, "ใ‘ใฃใ‹ใ‚“ใŒใŸในใƒผใกใ‡ใฃใจใณใ‚‡ใ†"@ja-Hira, "่ก€็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "่ก€็ฎกใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja, "่ก€็ฎกๅž‹Behรงet็—…"@ja ; + skos:prefLabel "่ก€็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja . + + + nando:hasNotificationNumber "56" ; + dcterms:identifier "NANDO:1201016" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intestinal Behรงet's Disease"@en, "ใกใ‚‡ใ†ใ‹ใ‚“ใŒใŸในใƒผใกใ‡ใฃใจใณใ‚‡ใ†"@ja-Hira, "่…ธ็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "่…ธ็ฎกใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja, "่…ธ็ฎกๅž‹Behรงet็—…"@ja ; + skos:prefLabel "่…ธ็ฎกๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja . + + + nando:hasNotificationNumber "56" ; + dcterms:identifier "NANDO:1201017" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neuro-Behรงet's Disease"@en, "ใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "็ฅž็ตŒBehรงet็—…"@ja, "็ฅž็ตŒๅž‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + skos:prefLabel "็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1201018" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type I"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…Iๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002413 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…Iๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1201019" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type III"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009291 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IIIๅž‹"@ja . + + + nando:hasNotificationNumber "257" ; + dcterms:identifier "NANDO:1201020" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic glycogen storage disease type IX"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IXๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018251 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IXๅž‹"@ja . + + + nando:hasNotificationNumber "299" ; + dcterms:identifier "NANDO:1201021" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cystic fibrosis"@en, "ใฒใฎใ†ใปใ†ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่†ตๅ›Š่ƒž็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CF"@en, "Pancreatic cystic fibrosis"@en, "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009061 ; + skos:prefLabel "่†ตๅ›Š่ƒž็ทš็ถญ็—‡"@ja . + + + nando:hasNotificationNumber "310" ; + dcterms:identifier "NANDO:1201022" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Micro-deletion syndrome and other syndromes"@en, "ใณใ•ใ„ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใจใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค"@ja . + + + dcterms:identifier "NANDO:1201023" ; + a owl:Class ; + rdfs:label "obsolete Micro-deletion syndrome and other syndromes"@en, "obsolete ใณใ•ใ„ใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใจใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "obsolete ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + rdfs:subClassof ; + owl:deprecated true ; + skos:prefLabel "obsolete ๅพฎ็ดฐๆฌ ๅคฑ็—‡ๅ€™็พค็ญ‰็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:1201024" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Monophasic chronic inflammatory demyelinating polyneuropathy"@en, "ใŸใ‚“ใใ†ใŒใŸใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“"@ja-Hira, "ๅ˜็›ธๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๅ˜็›ธๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:1201025" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Multifocal chronic inflammatory demyelinating polyneuropathy"@en, "ใŸใใ†ใ›ใ„ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“"@ja-Hira, "ๅคš็›ธๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅ†็™บๅฏ›่งฃๅž‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; + skos:prefLabel "ๅคš็›ธๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:1201026" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic progressive chronic inflammatory demyelinating polyneuropathy"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใ›ใ„ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๆ€งๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja . + + + nando:hasNotificationNumber "56" ; + dcterms:identifier "NANDO:1201027" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic progressive Neuro-Behรงet's disease"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja . + + + nando:hasNotificationNumber "56" ; + dcterms:identifier "NANDO:1201028" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute Neuro-Behรงet's disease"@en, "ใใ‚…ใ†ใ›ใ„ใŒใŸใ—ใ‚“ใ‘ใ„ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€งๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "acute NB"@en ; + skos:prefLabel "ๆ€ฅๆ€งๅž‹็ฅž็ตŒใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1201029" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mesangial proliferative glomerulonephritis"@en, "ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MesPGN"@en, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง่…Ž็‚Žๅž‹"@ja ; + skos:closeMatch obo:MONDO_0003139 ; + skos:prefLabel "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:2100001 - terms:identifier "2100001" ; - a owl:Class ; - rdfs:label "Malignant neoplasms"@en, "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ"@ja . + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1201030" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic diffuse membranoproliferative glomerulonephritis type I"@en, "ใพใ‚“ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "223" ; + dcterms:identifier "NANDO:1201031" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute diffuse membranoproliferative glomerulonephritis type I"@en, "ใใ‚…ใ†ใ›ใ„ใƒปใณใพใ‚“ใŒใŸใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ€ฅๆ€งใƒปใณใพใ‚“ๅž‹่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "334" ; + dcterms:description "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค(cerebral creatine deficiency syndromes: CCDSs๏ผ›ICD10 ใ‚ณใƒผใƒ‰ E728)ใฏใ€่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใซใ‚ˆใ‚Šใ€็Ÿฅ็š„้šœๅฎณใ€่จ€่ชž็™บ้”้…ๆปžใ€ใฆใ‚“ใ‹ใ‚“ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ ใ‚ฏใƒฌใ‚ขใƒใƒณ ็”Ÿๅˆๆˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปข็งป้…ต็ด (GAMT)ๆฌ ๆ็—‡ๅŠใณใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆAGAT๏ผ‰ๆฌ ๆ็—‡ไธฆใณใซใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€้šœๅฎณใซใ‚ˆใ‚‹ ใ‚ฏใƒฌใ‚ขใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ ๏ผˆSLC6A8๏ผ‰ๆฌ ๆ็—‡ใฎ 3 ็–พๆ‚ฃใŒๅซใพใ‚Œใ€ใใ‚Œใžใ‚Œใ€GAMT ้บไผๅญ๏ผˆ19p13.3๏ผ‰ใ€GATM ้บไผๅญ๏ผˆ15q21.1๏ผ‰ๅŠใณ SLC6A8 ้บไผๅญ๏ผˆXq28๏ผ‰ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚GAMT ๆฌ ๆ็—‡ๅŠใณ AGAT ๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹ๅผใ€SLC6A8 ๆฌ ๆ็—‡ใฏ X้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚็‰นใซใ€SLC6A8 ๆฌ ๆ็—‡ใฏใ€้บไผๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธญใงๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„็–พๆ‚ฃใฎไธ€ใคใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๅˆไฝต็—‡ใฎ็จ‹ๅบฆใซใ‚ˆใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201032" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cerebral creatine deficiency syndromes"@en, "ใฎใ†ใใ‚Œใ‚ใกใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CCDSs"@en ; + skos:closeMatch obo:MONDO_0000456 ; + skos:prefLabel "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja . -:2100002 - terms:identifier "2100002" ; - a owl:Class ; - rdfs:label "leukemia"@en, "็™ฝ่ก€็—…"@ja ; - rdfs:subClassOf ; - skos:prefLabel "็™ฝ่ก€็—…"@ja . + + nando:hasNotificationNumber "334" ; + dcterms:identifier "NANDO:1201033" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Arginine:glycine amidinotransferase deficiency"@en, "ใ‚ใ‚‹ใŽใซใ‚“ใƒปใใ‚Šใ—ใ‚“ใ‚ใฟใ˜ใฎใใฆใ‚“ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AGAT deficiency"@en, "AGATๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0012996 ; + skos:prefLabel "ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "334" ; + dcterms:identifier "NANDO:1201034" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Guanidinoacetate methyltransferase deficiency"@en, "ใใ‚ใซใ˜ใฎใ•ใใ•ใ‚“ใ‚ใกใ‚‹ใใฆใ‚“ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปขไฝ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GAMT deficiency"@en, "GAMTๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0012999 ; + skos:prefLabel "ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปขไฝ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "334" ; + dcterms:identifier "NANDO:1201035" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Creatine transporter deficiency"@en, "ใใ‚Œใ‚ใกใ‚“ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒฌใ‚ขใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SLC6A8 deficiency"@en ; + skos:closeMatch obo:MONDO_0010305 ; + skos:prefLabel "ใ‚ฏใƒฌใ‚ขใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "335" ; + dcterms:description "ใƒใƒ•ใƒญใƒณ็™†ใฏใ€ไธ€ๆฌก็นŠๆฏ›ใซๅญ˜ๅœจใ™ใ‚‹่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹NPHP้บไผๅญใฎ็•ฐๅธธใŒไธปใŸใ‚‹ๅŽŸๅ› ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่…Ž้–“่ณช้šœๅฎณใ‚ใ‚‹ใ„ใฏ่…Žไธๅ…จใซไผดใ†็—‡็ŠถใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใŒใ€็‰นๅพด็š„ใช็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆ นๆœฌ็š„ใชๆฒป็™‚ๆณ•ใฏใชใใ€ๅŸบๆœฌ็š„ใซใฏ30ๆญณใพใงใซๆœซๆœŸ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201036" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nephronophthisis"@en, "ใญใตใ‚ใ‚“ใ‚ใ†"@ja-Hira, "ใƒใƒ•ใƒญใƒณ็™†"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "NPH"@en ; + skos:closeMatch obo:MONDO_0009728, obo:MONDO_0019005 ; + skos:prefLabel "ใƒใƒ•ใƒญใƒณ็™†"@ja . -:2100003 - terms:identifier "2100003" ; - a owl:Class ; - rdfs:label "Myelodysplastic syndrome"@en, "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "336" ; + dcterms:description "ๅฎถๆ—ๆ€งไฝŽฮฒ ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡(familial hypobetalipoproteinemia: FHBL)1ใฏๅธธๆŸ“่‰ฒไฝ“ๅ…ฑๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚1987ๅนดใซๆœฌ็–พๆ‚ฃใซใŠใ„ใฆใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏB๏ผˆไปฅไธ‹ใ€Œใ‚ขใƒBใ€ใจใ„ใ†ใ€‚๏ผ‰ใฎ็•ฐๅธธ๏ผˆAPOB้บไผๅญๅค‰็•ฐ๏ผ‰ใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใฏๆฏ”่ผƒ็š„้ซ˜้ ปๅบฆใ ใŒใ€ใƒ›ใƒขๆŽฅๅˆไฝ“ใฏ็จ€ใงใ‚ใ‚‹ใ€‚ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใจใƒ›ใƒขๆŽฅๅˆไฝ“ใฏใ€ๅ‡บ็พใ™ใ‚‹็—‡็Šถใ‚„็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅ€คใฎ็จ‹ๅบฆใ€ๆฒป็™‚ใธใฎๅๅฟœๆ€งใŒๅ…จใ็•ฐใชใ‚Šใ€ใใฎ็ฎก็†ใซใŠใ„ใฆใ‚‚ๅ…จใๅˆฅใฎๅ–ๆ‰ฑใ„ใ‚’ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใ‚ขใƒBใฏใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰๏ผˆtriglycerides: TG๏ผ‰ใ‚’ๆœซๆขข็ต„็น”ใธ้‹ใถ่ถ…ไฝŽๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ณช๏ผˆvery low-density lipoprotein: VLDL๏ผ‰ใ€่…ธ็ฎกใ‹ใ‚‰่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใ‚„ใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใฆใฎ่„‚่ณชใ‚’ๅธๅŽใƒป้‹ๆฌใ™ใ‚‹ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใ‚’ๆง‹ๆˆใ™ใ‚‹้‡่ฆใชใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใงใ‚ใ‚‹ใ€‚ใ‚ขใƒBใฎ้‡ๅบฆใชๆฉŸ่ƒฝ้šœๅฎณใ‚’ใ‚‚ใŸใ‚‰ใ™APOBๅค‰็•ฐใฎใƒ›ใƒขๆŽฅๅˆไฝ“ใฎๅ ดๅˆใซใฏใ€็„กฮฒ ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡ใจๅŒๆง˜ใซ่„‚่‚ชๅธๅŽ้šœๅฎณใจใใ‚Œใซใ‚ˆใ‚‹่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไน็—‡ใ€่‘—ใ—ใ„ไฝŽใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใ€ๆœซๆขข่ก€ใซๆœ‰ๆฃ˜่ตค่ก€็ƒใ‚’่ชใ‚ใ‚‹ใ€‚่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใฎ่ฃœๅ……็™‚ๆณ•ใชใฉใฎๆฒป็™‚ใ‚’่กŒใ†ใŒใ€ๆœชๆฒป็™‚ใงใฏ30ๆญณๅ‰ๅพŒใพใงใซๆญฉ่กŒ้šœๅฎณใชใฉ่‘—ใ—ใ„ADL้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็ฅž็ตŒ้šœๅฎณใ€็œผ็—‡็Šถใ‚’ๆฅใ—ใ€ใ“ใ‚ŒใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201037" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Homozygous familial hypobetalipoproteinemia 1"@en, "ใ‹ใžใใ›ใ„ใฆใ„ในใƒผใŸใ‚ŠใฝใŸใ‚“ใฑใใ‘ใฃใ—ใ‚‡ใ†1๏ผˆใปใ‚‚ใ›ใคใ”ใ†ใŸใ„๏ผ‰"@ja-Hira, "ๅฎถๆ—ๆ€งไฝŽฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡1๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0014252 ; + skos:prefLabel "ๅฎถๆ—ๆ€งไฝŽฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡1๏ผˆใƒ›ใƒขๆŽฅๅˆไฝ“๏ผ‰"@ja . + + + nando:hasNotificationNumber "337" ; + dcterms:description "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎไธ€็จฎใงใ‚ใ‚Šใ€ใƒกใƒใ‚ชใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใŒ่ก€ไธญใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ๆฌ ๆ้…ต็ด ใฎ็จฎ้กžใซใ‚ˆใ‚Š๏ผ“็—…ๅž‹ใŒใ‚ใ‚Šใ€ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡โ… ๅž‹ใฏใ‚ทใ‚นใ‚ฟใƒใ‚ชใƒ‹ใƒณฮฒๅˆๆˆ้…ต็ด (CBS)ๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ—ใ€่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณใ‚’ๆŒ‡ๆจ™ใจใ™ใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚โ…กๅž‹ใฏใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็ณปใ‚ณใƒใƒฉใƒŸใƒณC๏ผˆcblC๏ผ‰ใ€โ…ขๅž‹ใฏ่‘‰้…ธไปฃ่ฌ็ณปใƒกใƒใƒฌใƒณใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญ่‘‰้…ธ้‚„ๅ…ƒ้…ต็ด ๏ผˆMTHFR๏ผ‰ใฎ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใŒใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใฏใชใ„ใ€‚ๅ…จ่บซๆ€งใซ็ฅž็ตŒ้šœๅฎณใ‚„่ก€ๆ “็—‡ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅ‡บ็พใ—ใ€็—…ๅž‹ใซใ‚ˆใ‚Š้ชจๆ ผ็•ฐๅธธใ€็œผ็—‡็Šถใ€่ก€ๆถฒ็•ฐๅธธใŒๅŠ ใ‚ใ‚‹ใ€‚้ฃŸไบ‹็™‚ๆณ•ใ‚„ใƒ“ใ‚ฟใƒŸใƒณ่ฃœๅ……ใชใฉใŒๅฏพ็—‡็™‚ๆณ•ใจใ—ใฆ่กŒใ‚ใ‚Œใ‚‹ใ€‚็‰นใซ่ก€ๆ “็—‡ใซใ‚ˆใ‚‹ๅˆไฝต็—‡ใŒ็”Ÿๅ‘ฝๅŠใณ้•ทๆœŸ็š„ไบˆๅพŒใ‚’ไธ่‰ฏใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201038" ; + a owl:Class ; + rdfs:label "Homocystinuria"@en, "ใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004737 ; + skos:prefLabel "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "337" ; + dcterms:description "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡โ… ๅž‹ใงใฏไปฅไธ‹ใฎโ‘ ๏ฝžโ‘ฃใ‚’ไธป่ฆ็—‡็Šถใจใ™ใ‚‹ใ€‚โ‘ ไธญๆžข็ฅž็ตŒ็ณป็•ฐๅธธ๏ผš็Ÿฅ็š„้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž็—‡็Šถ๏ผˆใƒ‘ใƒผใ‚ฝใƒŠใƒชใƒ†ใ‚ฃ้šœๅฎณใ€ไธๅฎ‰ใ€ๆŠ‘ใ†ใคใชใฉ๏ผ‰โ‘ก้ชจๆ ผ็•ฐๅธธ๏ผš้ซ˜่บซ้•ทใƒปใ‚ฏใƒข็ŠถๆŒ‡ใƒปๅดๅผฏ็—‡ใƒป้ณฉ่ƒธใชใฉใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคๆง˜ไฝ“ๅž‹ใ€้ชจ็ฒ—้ฌ†็—‡โ‘ข็œผ็—‡็Šถ๏ผš ๆฐดๆ™ถไฝ“่„ฑ่‡ผ ๏ผˆ็„กๆฒป็™‚ใงใฏ10ๆญณใพใงใซ80๏ผ…ไปฅไธŠใง ๆฐดๆ™ถไฝ“่„ฑ่‡ผ ใ‚’ๅ‘ˆใ™ใ‚‹๏ผ‰ใ€็ท‘ๅ†…้šœโ‘ฃ่ก€็ฎก็ณป้šœๅฎณ๏ผšๅ† ๅ‹•่„ˆ่ก€ๆ “็—‡ใ€่‚บๅกžๆ “็—‡ใ€่„ณ่ก€ๆ “ๅกžๆ “็—‡็„กๆฒป็™‚ใฎๅ ดๅˆใ€ๅฐๅ…ๆœŸใ‹ใ‚‰ไธŠ่จ˜โ‘ ใ€โ‘กใ€โ‘ขใฎ็—‡็Šถใ‚’่ชใ‚ใ€ๆ€ๆ˜ฅๆœŸใ‹ใ‚‰ๆˆไบบๆœŸใซโ‘ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚็„กๆฒป็™‚็™บ็—‡ไพ‹ใซ่ฉฒๅฝ“ใ™ใ‚‹ใฎใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐๅฐŽๅ…ฅๅ‰๏ผˆ1977ๅนดไปฅๅ‰๏ผ‰ใฎ40ๆญณไปฃไปฅไธŠใฎ็—‡ไพ‹ใ‚„ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ‚’ใ™ใ‚Šใฌใ‘ใŸ็—‡ไพ‹ใงใ‚ใ‚‹ใ€‚็—‡็Šถ็™บ็พๅ‰ใซๆฒป็™‚้–‹ๅง‹ใ•ใ‚Œใฆใ‚‚ใ€ๆˆไบบๆœŸใซ่‡ณใ‚‹้Ž็จ‹ใง่ก€ไธญใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใซ้›ฃๆธ‹ใ™ใ‚‹็—‡ไพ‹ใŒๅคšใใ€็ฒพ็ฅž็—‡็Šถใ€้ชจ็ฒ—้ฌ†็—‡๏ผˆ้ชจๆŠ˜๏ผ‰ใ€่ก€ๆ “็—‡็ญ‰ใฎ็™บ็—‡ใซ็”Ÿๆถฏใ‚’้€šใ˜ใฆๆณจๆ„ใ‚’ๆ‰•ใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201039" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Homocystinuria type 1"@en, "ใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡Iๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CBSๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009352 ; + skos:prefLabel "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡Iๅž‹"@ja . + + + nando:hasNotificationNumber "337" ; + dcterms:description "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡โ…กๅž‹ใงใฏ่ก€ไธญใƒ›ใƒขใ‚ทใ‚นใƒใƒณใซๅŠ ใˆใ€่ก€ไธญใƒกใƒใƒซใƒžใƒญใƒณ้…ธใฎไธŠๆ˜‡ใซใ‚ˆใ‚‹ๅ“บไนณไธ่‰ฏใ€ๅ˜”ๆฐ—ใ€ๆ„่ญ˜้šœๅฎณใชใฉๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธใฎ็—‡็Šถๅ‡บ็พใจ่ฒง่ก€ใชใฉ่ก€ๆถฒ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ไปฅไธ‹ใฎโ‘ ๏ฝžโ‘ฃใ‚’ไธป่ฆ็—‡็Šถใจใ™ใ‚‹ใ€‚โ‘ ็ฅž็ตŒ้šœๅฎณ๏ผšไนณๅนผๅ…ๆœŸใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๅฐ้ ญ็—‡ใ€ๆฐด้ ญ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใ€‚ๅญฆ็ซฅๆœŸไปฅ้™ใฎ้…็™บๅž‹ใงใฏ้€€่กŒใ€ๅญฆๆฅญๆˆ็ธพๆ‚ชๅŒ–ใ€ๆ€งๆ ผใ‚„่กŒๅ‹•ใฎ็•ฐๅธธใชใฉใฎ็ฒพ็ฅž็—‡็Šถโ‘ก็œผ็—‡็Šถ๏ผš็ถฒ่†œ็—‡ใ‚„่ฆ–็ฅž็ตŒ่Ž็ธฎใซใ‚ˆใ‚‹่ฆ–ๅŠ›้šœๅฎณโ‘ข่ก€ๆถฒ็•ฐๅธธ๏ผšๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘โ‘ฃ่ก€ๆ “็—‡๏ผšๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่‚บๅกžๆ “็—‡ใ€่„ณ่ก€ๆ “ๅกžๆ “็—‡ใชใฉ"@ja ; + dcterms:identifier "NANDO:1201040" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Homocystinuria type 2"@en, "ใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡IIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Homocystinuria type CblC"@en, "ใ‚ณใƒใ‚™ใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ cblC"@ja ; + skos:closeMatch obo:MONDO_0010184 ; + skos:prefLabel "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "337" ; + dcterms:description "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡โ…ขๅž‹ใงใฏ่‘‰้…ธๆฌ ไนใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ้šœๅฎณใŒๅŠ ใ‚ใ‚Š้‡็ฏคใชๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใ€‚ไปฅไธ‹ใฎ๏ผˆ๏ผ‘๏ผ‰๏ผˆ๏ผ’๏ผ‰ใ‚’ไธป่ฆ็—‡็Šถใจใ™ใ‚‹ใ€‚๏ผˆ๏ผ‘๏ผ‰็ฅž็ตŒ้šœๅฎณ๏ผšไนณๅนผๅ…ๆœŸใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๅฐ้ ญ็—‡ใ€ใ‘ใ„ใ‚Œใ‚“ใ€‚ๅญฆ็ซฅๆœŸไปฅ้™ใฎ้…็™บๅž‹ใงใฏๆฐด้ ญ็—‡ใ€ๆญฉ่กŒ้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“ใ€ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€็™ฝ่ณช่„ณ็—‡ใ€็ตฑๅˆๅคฑ่ชฟ็—‡ใ€‚๏ผ‰๏ผˆ๏ผ’๏ผ‰่ก€ๆ “็—‡๏ผš้’ๅนดๆœŸไปฅ้™ใฎๅฟƒ่ก€็ฎก่ก€ๆ “็—‡ใ€่‹ฅๅนดๆ€ง่„ณๆข—ๅกž"@ja ; + dcterms:identifier "NANDO:1201041" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Homocystinuria type 3"@en, "ใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡IIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Homocystinuria due to MTHFR deficiency"@en, "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"@en, "MTHFR ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009353 ; + skos:prefLabel "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "338" ; + dcterms:description "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†… ่ƒ†ๆฑ ใ†ใฃๆปž็—‡(Progressive familial intrahepatic cholestasis ; PFIC)ใฏใ€ไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้บไผๆ€งใฎ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹็–พๆ‚ฃใงๅŽŸๅ› ้บไผๅญใฏ็พๅœจใพใงใซPFIC1-5ใฎ5็—…ๅž‹ใŒOMIM (Online Mendelian Inheritance in Man)ใซ็™ป้Œฒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚PFIC3ใ‚’้™คใใ€่ก€ๆธ…็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธๅŠใณASTใƒปALTใฎ้ซ˜ๅ€คใ€ฮณ -GTPๅ€คใฏๆญฃๅธธๅˆใฏ่ปฝๅบฆ้ซ˜ๅ€คใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ ็—‡็Šถใฏใ„ใšใ‚Œใ‚‚ไนณๅ…ๆœŸใ‹ใ‚‰ๆ…ขๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžใซใ‚ˆใ‚‹่‚่„พ่…ซใ‚„่‘—ๆ˜Žใช็˜™็—’ๆ„Ÿใ‚’ๅ‘ˆใ—ใฆ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใŒใ€PFIC1ใงใฏไธ‹็—ขใ€่†ตๆฉŸ่ƒฝไธๅ…จใ€้›ฃ่ดใชใฉ่‚ๅค–็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใฎใซๅฏพใ—ใ€PFIC2ๅŠใณPFIC4ใฏ็—‡็ŠถใŒ่‚ใซ้™ๅฑ€ใ™ใ‚‹ไธ€ๆ–นใงๆ—ฉๆœŸใซ่‚ไธๅ…จใŒ้€ฒ่กŒใ—ใ€ๆ™‚ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏๅˆฉ่ƒ†ๅ‰คใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณ่ฃœๅ……ใชใฉใฎๅฏพ็—‡็™‚ๆณ•ใŒไธปไฝ“ใงใ€ไฟๅญ˜็š„ๆฒป็™‚ใฎ็„กๅŠนไพ‹ใฏ่‚็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚็งปๆคๅพŒใฎ็ตŒ้Žใฏ่‚ๅค–็—‡็Šถใฎๆœ‰็„กใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚PFIC3-5ใฏๆ—ฅๆœฌไบบใงใฏ็™บ็—‡ใŒๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201042" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive familial intrahepatic cholestasis"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PFIC"@en ; + skos:closeMatch obo:MONDO_0015762 ; + skos:prefLabel "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja . + + + nando:hasNotificationNumber "338" ; + dcterms:description "PFIC1ใฏใ€ไนณๅ…ๆœŸใ‹ใ‚‰้ทๅปถๆ€ง้ป„็–ธใจใ—ใฆ็™บ็—‡ใ—ใ€ๆˆ้•ท้šœๅฎณใ€่‚ไธๅ…จใธใจ้€ฒ่กŒใ™ใ‚‹ใ€‚ใพใŸ่‚่„พ่…ซใ€่‘—ๆ˜Žใช็˜™็—’ๆ„Ÿใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใใฎไป–ใ€ไฝŽ่บซ้•ทใ€็‰น็•ฐ็š„ๆŒ‡่ถพ(stubby fingers)ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚FIC1ใฏ่‚่‡“ใฎใปใ‹ใ€่…Ž่‡“ใ€ๅฐ่…ธใ€่†ต่‡“ใ€่ธ็‰›ๆœ‰ๆฏ›็ดฐ่ƒžใ€่†€่ƒฑใ€่ƒƒใงใ‚‚็™บ็พใ—ใฆใ„ใ‚‹ใŸใ‚ใ€่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚้šœๅฎณใจใจใ‚‚ใซใ€่‚ๅค–็—‡็Šถใจใ—ใฆไธ‹็—ขใ‚„่†ต็‚Žใ€้›ฃ่ดใ‚’ใใŸใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ก€ๆถฒๆคœๆŸปใงใฏ็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธๅŠใณAST/ALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€่ก€ๆธ…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ€ฮณ -GTPๅ€คใฏไธŠๆ˜‡ใ—ใชใ„ใ€‚่‚็ต„็น”ใงใฏใ€่ƒ†ๆฑใ†ใฃๆปžใŒๅฐ่‘‰้–“่ƒ†็ฎกใ‚ˆใ‚Šใ‚‚ๆฏ›็ดฐ่ƒ†็ฎกใงใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้›ปๅญ้ก•ๅพฎ้กใงใฏๆฏ›็ดฐ่ƒ†็ฎกๅ†…ใซBylerโ€™s bileใจๅ‘ผใฐใ‚Œใ‚‹็ฒ—้›‘ใช่ƒ†ๆฑใฎ้ก†็ฒ’ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹๏ผˆPFIC2ใงใฏ่ƒ†ๆฑใฏ็„กๆง‹้€ ใงใ‚ใ‚‹๏ผ‰ใ€‚้–“ๆฌ ็š„ใซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹่ปฝ็—‡ๅž‹ใฎๅญ˜ๅœจใŒ็Ÿฅใ‚‰ใ‚Œใ€่‰ฏๆ€งๅๅพฉๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ (benign recurrent intrahepatic cholestasis; BRIC) 1ๅž‹ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใŒใ€้บไผๅญๅค‰็•ฐใจ็–พๆ‚ฃใฎ้‡็—‡ๅบฆใฎ็›ธ้–ขใฏ็Ÿฅใ‚‰ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:1201043" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive familial intrahepatic cholestasis type 1"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FIC1็—…"@ja, "PFIC type 1"@en, "PFIC1"@en ; + skos:closeMatch obo:MONDO_0008892 ; + skos:prefLabel "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "338" ; + dcterms:description "PFIC2ใซใŠใ„ใฆๅŽŸๅ› ใจใชใ‚‹BSEPใฏ่‚็ดฐ่ƒžใซใฎใฟ็™บ็พใ—่‚ๅค–็—‡็Šถใ‚’ๆฅใ•ใชใ„ใŒใ€่‚ไธๅ…จใธใฎ้€ฒ่กŒใฏๆ—ฉใใ€่‹ฅๅนดใฎๅ†…ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚่ก€ๆถฒๆคœๆŸปใงใฏใ€็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธๅŠใณASTใƒปALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ฮณ -GTPๅ€คใฏไธŠๆ˜‡ใ—ใชใ„ใ€‚่‚็ต„็น”ใงใฏใ€ๅทจ็ดฐ่ƒžๆ€ง่‚็‚ŽใŒ็‰นๅพด็š„ใจใ•ใ‚Œใ‚‹ใŒใ€ๅ…จไพ‹ใง่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใงใฏใชใ„ใ€‚ใพใŸๆ—ฉๆœŸใ‚ˆใ‚Š่‚็กฌๅค‰ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚PFIC1ใจๅŒๆง˜ใซใ€้–“ๆฌ ็š„ใซ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹่ปฝ็—‡ๅž‹ใฎๅญ˜ๅœจใŒ็Ÿฅใ‚‰ใ‚Œใ€่‰ฏๆ€งๅๅพฉๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡2ๅž‹๏ผˆBRIC2๏ผ‰ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201044" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive familial intrahepatic cholestasis type 2"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "BSEP็—…"@ja, "PFIC type 2"@en, "PFIC2"@en ; + skos:closeMatch obo:MONDO_0011156 ; + skos:prefLabel "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผ’ๅž‹"@ja . + + + nando:hasNotificationNumber "338" ; + dcterms:description "PFIC3ใฏไนณๅ…ๆœŸใซ้ทๅปถๆ€ง้ป„็–ธใง็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ๅฆŠๅจ ไธญใซ่ƒ†็Ÿณ็—‡ใชใฉใง็™บ็—‡ใ™ใ‚‹ไพ‹ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚PFIC3ใงใฏฮณ -GTPๅ€คใ‚‚้ซ˜ๅ€คใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1201045" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive familial intrahepatic cholestasis type 3"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MDR3็—…"@ja, "PFIC type 3"@en, "PFIC3"@en ; + skos:closeMatch obo:MONDO_0011214 ; + skos:prefLabel "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผ“ๅž‹"@ja . + + + nando:hasNotificationNumber "338" ; + dcterms:description "PFIC4ใ€PFIC5ใจใ‚‚้žๅธธใซ็จ€ใงใ‚ใ‚‹ใŒๅ›ฝๅ†…ใซใŠใ„ใฆๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201046" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive familial intrahepatic cholestasis type 4"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†4ใŒใŸ"@ja-Hira, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡4ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PFIC4"@en ; + skos:closeMatch obo:MONDO_0014381 ; + skos:prefLabel "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡4ๅž‹"@ja . + + + nando:hasNotificationNumber "338" ; + dcterms:description "PFIC4ใ€PFIC5ใจใ‚‚้žๅธธใซ็จ€ใงใ‚ใ‚‹ใŒๅ›ฝๅ†…ใซใŠใ„ใฆๆ‚ฃ่€…ใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201047" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Progressive familial intrahepatic cholestasis type 5"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†5ใŒใŸ"@ja-Hira, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡5ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PFIC5"@en ; + skos:closeMatch obo:MONDO_0014884 ; + skos:prefLabel "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡5ๅž‹"@ja . + + + nando:hasNotificationNumber "288" ; + dcterms:identifier "NANDO:1201048" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acquired factor X inhibitor"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ†ใ“ใ ใ„10ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0021134 ; + skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅพŒๅคฉๆ€งๅ‡ๅ›บ็ฌฌXๅ› ๅญๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "177" ; + dcterms:identifier "NANDO:1201049" ; + a owl:Class ; + rdfs:label "Senior-Loken syndrome"@en, "ใ›ใซใŠใƒผใ‚‹ใƒปใ‚ใƒผใ‘ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SLS"@en ; + skos:closeMatch obo:MONDO_0017842 ; + skos:prefLabel "ใ‚ปใƒ‹ใ‚ชใƒผใƒซใƒปใƒญใƒผใ‚ฑใƒณ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "177" ; + dcterms:identifier "NANDO:1201050" ; + a owl:Class ; + rdfs:label "COACH syndrome"@en, "COACH็—‡ๅ€™็พค"@ja, "ใ—ใƒผใŠใƒผใˆใƒผใ—ใƒผใˆใ„ใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008996 ; + skos:prefLabel "COACH็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "177" ; + dcterms:identifier "NANDO:1201051" ; + a owl:Class ; + rdfs:label "Oral-facial-digital syndrome"@en, "ใใก-ใ‹ใŠ-ใ‚†ใณใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Orofaciodigital syndrome"@en ; + skos:closeMatch obo:MONDO_0015375 ; + skos:prefLabel "ๅฃ-้ก”-ๆŒ‡็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "12" ; + dcterms:identifier "NANDO:1201052" ; + dcterms:source ; + a owl:Class ; + rdfs:label "End-plate acetylcholine receptor deficiency"@en, "ใ—ใ‚…ใ†ใฐใ‚“ใ‚ใ›ใกใ‚‹ใ“ใ‚Šใ‚“ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Endplate acetylcholine receptor deficiency"@en, "Endplate acetylcholine receptor deficiency"@ja, "endplate AChR deficiency"@en ; + skos:prefLabel "็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "12" ; + dcterms:identifier "NANDO:1201053" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Slow-channel congenital myasthenic syndrome"@en, "ใ™ใ‚ใƒผใกใ‚ƒใ‚“ใญใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒญใƒผใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SCCMS"@en, "slow-channel CMS"@en ; + skos:prefLabel "ใ‚นใƒญใƒผใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "12" ; + dcterms:identifier "NANDO:1201054" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fast-channel congenital myasthenic syndrome"@en, "ใตใใƒผใ™ใจใกใ‚ƒใ‚“ใญใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚กใƒผใ‚นใƒˆใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ•ใ‚กใƒผใ‚นใƒˆใƒใƒฃใƒณใƒใƒซ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "12" ; + dcterms:identifier "NANDO:1201055" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sodium channel myasthenia"@en, "ใชใจใ‚Šใ†ใ‚€ใกใ‚ƒใ‚“ใญใ‚‹ใ‚€ใใ‚“ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ็ญ‹็„กๅŠ›็—‡"@ja . + + + nando:hasNotificationNumber "12" ; + dcterms:identifier "NANDO:1201056" ; + dcterms:source ; + a owl:Class ; + rdfs:label "End-plate acetylcholine esterase deficiency"@en, "ใ—ใ‚…ใ†ใฐใ‚“ใ‚ใ›ใกใ‚‹ใ“ใ‚Šใ‚“ใˆใ™ใฆใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Endplate acetylcholinesterase deficiency"@en ; + skos:closeMatch obo:MONDO_0011281 ; + skos:prefLabel "็ต‚ๆฟใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "12" ; + dcterms:identifier "NANDO:1201057" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital myasthenic syndrome with episodic apnoea"@en, "ใปใฃใ•ใ›ใ„ใ‚€ใ“ใใ‚…ใ†ใ‚’ใจใ‚‚ใชใ†ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "็™บไฝœๆ€ง็„กๅ‘ผๅธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital myasthenic syndrome with episodic apnea"@en ; + skos:closeMatch obo:MONDO_0009689 ; + skos:prefLabel "็™บไฝœๆ€ง็„กๅ‘ผๅธใ‚’ไผดใ†ๅ…ˆๅคฉๆ€ง็ญ‹็„กๅŠ›็—‡"@ja . + + + nando:hasNotificationNumber "186" ; + dcterms:description "ๆฉˆ้ชจๆฌ ๆใƒปไฝŽๅฝขๆˆใ€่†่“‹้ชจๆฌ ๆใƒปไฝŽๅฝขๆˆใ€ๅฃ่“‹ใฎไฝŽๅฝขๆˆใ€ๅฃ่“‹่ฃ‚ใ€ๆ…ขๆ€งใฎไธ‹็—ขใ€้–ข็ฏ€ใฎ่„ฑ่‡ผใ€ๅฐๆŸ„ใชไฝ“ๅž‹ใ€ๅ››่‚ขใฎๅฅ‡ๅฝขใ€็ดฐ้•ทใ„้ผปใ€ๆญฃๅธธใช็Ÿฅ่ƒฝใ‚’็‰นๅพดใจใ—ใพใ™ใ€‚้ซ˜็Ž‡ใซ้ชจ่‚‰่…ซ็ญ‰ใฎ็™Œ่…ซใ‚’ๅˆไฝตใ—ใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1201058" ; + a owl:Class ; + rdfs:label "RAPADILINO syndrome"@en, "ใ‚‰ใฑใงใ‚Šใฎใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "RAPADILINO็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009955 ; + skos:prefLabel "ใƒฉใƒ‘ใƒ‡ใƒชใƒŽ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "186" ; + dcterms:description "ๅ† ็Šถ็ธซๅˆใฎๆ—ฉๆœŸ็™’ๅˆใซใ‚ˆใ‚‹็Ÿญ้ ญใ‚„ๆฉˆ้ชจๆฌ ๆใ€ๆ‹‡ๆŒ‡ๆฌ ๆใ‚’็‰นๅพดใจใ—ใพใ™ใ€‚้ชจ่‚‰่…ซใ€็šฎ่†š็™Œใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Šใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:1201059" ; + a owl:Class ; + rdfs:label "Baller-Gerold syndrome"@en, "ใฐใ‚Œใƒผใƒปใ˜ใ‡ใ‚ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "BGS"@en, "Baller-Gerold็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009039 ; + skos:prefLabel "ใƒใƒฌใƒผใƒปใ‚ธใ‚งใƒญใƒซใƒ‰็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1201060" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial amyloid polyneuropathy type 1"@en, "ใ‹ใžใใ›ใ„ใ‚ใฟใ‚ใ„ใฉใซใ‚…ใƒผใ‚ใฑใกใƒผ1ใŒใŸ"@ja-Hira, "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FAP 1"@en, "Type I FAP"@en, "Type I familial amyloid polyneuropathy"@en ; + skos:closeMatch obo:MONDO_0007100 ; + skos:prefLabel "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIๅž‹"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1201061" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial amyloid polyneuropathy type 2"@en, "ใ‹ใžใใ›ใ„ใ‚ใฟใ‚ใ„ใฉใซใ‚…ใƒผใ‚ใฑใกใƒผ2ใŒใŸ"@ja-Hira, "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Amyloid Polyneuropathy, Swiss Type"@en, "FAP II"@en ; + skos:prefLabel "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIIๅž‹"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1201062" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial amyloid polyneuropathy type 3"@en, "ใ‹ใžใใ›ใ„ใ‚ใฟใ‚ใ„ใฉใซใ‚…ใƒผใ‚ใฑใกใƒผ3ใŒใŸ"@ja-Hira, "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FAP III"@en, "Familial amyloid polyneuropathy, Iowa type"@en ; + skos:closeMatch obo:MONDO_0019731 ; + skos:prefLabel "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIIIๅž‹"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:1201063" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial amyloid polyneuropathy type 4"@en, "ใ‹ใžใใ›ใ„ใ‚ใฟใ‚ใ„ใฉใซใ‚…ใƒผใ‚ใฑใกใƒผ4ใŒใŸ"@ja-Hira, "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIVๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FAP IV"@en ; + skos:closeMatch obo:MONDO_0007097 ; + skos:prefLabel "ๅฎถๆ—ๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผIVๅž‹"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:1201064" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Kearns-Sayre syndrome"@en, "ใ‹ใƒผใ‚“ใšใƒปใ›ใ„ใ‚„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Kearns-Sayre็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010787 ; + skos:prefLabel "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:1201065" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Herlitz junctional epidermolysis bullosa"@en, "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใธใ‚‹ใ‚ŠใฃใคใŒใŸ๏ผ‰"@ja-Hira, "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HJEB"@en ; + skos:closeMatch obo:MONDO_0009182 ; + skos:prefLabel "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:1201066" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-Herlitz junctional epidermolysis bullosa"@en, "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใฒใธใ‚‹ใ‚ŠใฃใคใŒใŸ๏ผ‰"@ja-Hira, "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆ้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "nH-JEB"@en ; + skos:closeMatch obo:MONDO_0009180 ; + skos:prefLabel "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆ้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹๏ผ‰"@ja . + + + dcterms:identifier "NANDO:1201067" ; + a owl:Class ; + rdfs:label "Nodular lymphocyte predominance Hodgkin lymphoma"@en, "obsolete ็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ"@ja, "ใ‘ใฃใใใ›ใ„ใ‚Šใ‚“ใฑใใ‚…ใ†ใ‚†ใ†ใ„ใŒใŸใปใ˜ใใ‚“ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira ; + rdfs:subClassof ; + owl:deprecated true ; + skos:altLabel "NLPHL"@en, "Nodular lymphocyte predominance Hodgkin's lymphoma"@en, "็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹Hodgkinใƒชใƒณใƒ‘่…ซ"@ja ; + skos:prefLabel "obsolete ็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201068" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Agyria"@en, "ใ‚€ใฎใ†ใ‹ใ„"@ja-Hira, "็„ก่„ณๅ›ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015146, obo:MONDO_0022402 ; + skos:prefLabel "็„ก่„ณๅ›ž"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201069" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pachygyria"@en, "ใ“ใ†ใฎใ†ใ‹ใ„"@ja-Hira, "ๅŽš่„ณๅ›ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015146, obo:MONDO_0022402 ; + skos:prefLabel "ๅŽš่„ณๅ›ž"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201070" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Subcortical band heterotopia"@en, "ใฒใ—ใคใ‹ใŸใ„ใ˜ใ‚‡ใ†ใ„ใ—ใ‚‡ใ›ใ„ใฏใ„ใฏใใ—ใค"@ja-Hira, "็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SBH"@en ; + skos:closeMatch obo:MONDO_0020491 ; + skos:prefLabel "็šฎ่ณชไธ‹ๅธฏ็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201071" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Polymicrogyria"@en, "ใŸใ—ใ‚‡ใ†ใฎใ†ใ‹ใ„"@ja-Hira, "ๅคšๅฐ่„ณๅ›ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000087 ; + skos:prefLabel "ๅคšๅฐ่„ณๅ›ž"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201072" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cobblestone brain malformation"@en, "ใ—ใใ„ใ—ใ‚ˆใ†ใฒใ—ใคใ„ใ‘ใ„ใ›ใ„"@ja-Hira, "ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "COB"@en ; + skos:closeMatch obo:MONDO_0018869 ; + skos:prefLabel "ๆ•ท็Ÿณๆง˜็šฎ่ณช็•ฐๅฝขๆˆ"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201073" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Schizencephaly"@en, "ใ‚Œใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "่ฃ‚่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Cleft brain"@en ; + skos:closeMatch obo:MONDO_0010011 ; + skos:prefLabel "่ฃ‚่„ณ็—‡"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201074" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Porencephaly"@en, "ใ“ใ†ใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅญ”่„ณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017410 ; + skos:prefLabel "ๅญ”่„ณ็—‡"@ja . + + + nando:hasNotificationNumber "236" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201075" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pseudohypoparathyroidism type 1A"@en, "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†ใ‚ใ„ใˆใƒผใŒใŸ"@ja-Hira, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡Iaๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PHP1A"@en ; + skos:closeMatch obo:MONDO_0007078 ; + skos:prefLabel "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡Iaๅž‹"@ja . + + + nando:hasNotificationNumber "236" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201076" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pseudohypoparathyroidism type 1B"@en, "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†ใ‚ใ„ใณใƒผใŒใŸ"@ja-Hira, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡Ibๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PHP1B"@en ; + skos:closeMatch obo:MONDO_0011301 ; + skos:prefLabel "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡Ibๅž‹"@ja . + + + nando:hasNotificationNumber "236" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201077" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pseudohypoparathyroidism type 1C"@en, "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†ใ‚ใ„ใ—ใƒผใŒใŸ"@ja-Hira, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡Icๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PHPIc"@en ; + skos:closeMatch obo:MONDO_0012911 ; + skos:prefLabel "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡Icๅž‹"@ja . + + + nando:hasNotificationNumber "236" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใŒๆญฃๅธธใซๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€PTHใซๅฏพใ—ใฆๆจ™็š„็ต„็น”ใŒๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ้บไผๆ€ง้ชจใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆAlbright hereditary osteodystrophy๏ผšAHO๏ผ‰ใฎ็—‡ๅ€™ใ‚’ๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’Iaๅž‹ใ€ๅˆไฝตใ—ใชใ„ใ‚‚ใฎใ‚’Ibๅž‹ใจๅ‘ผใถใ€‚ใใฎไป–ใซIcๅž‹ใ€IIๅž‹ใฎ็—…ๅž‹ใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€Icๅž‹ใฎๅŒบๅˆ†ใฏๆ„็พฉใŒ็ขบ็ซ‹ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€IIๅž‹ใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใฎใ‹็–‘ๅ•่ฆ–ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201078" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pseudohypoparathyroidism type 2"@en, "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008749 ; + skos:prefLabel "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201079" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Periventricular nodular heterotopia"@en, "ใฎใ†ใ—ใคใ—ใ‚…ใ†ใ„ใ‘ใฃใ›ใคใ˜ใ‚‡ใ†ใ„ใ—ใ‚‡ใ›ใ„ใฏใ„ใฏใใ—ใค"@ja-Hira, "่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PNH"@en ; + skos:closeMatch obo:MONDO_0020341 ; + skos:prefLabel "่„ณๅฎคๅ‘จๅ›ฒ็ต็ฏ€็Šถ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณช"@ja . + + + nando:hasNotificationNumber "327" ; + dcterms:description "็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201080" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Protein C deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใ—ใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡ "@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital protein C deficiency"@en, "Heritable thrombophilia"@en ; + skos:closeMatch obo:MONDO_0019145 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡ "@ja . + + + nando:hasNotificationNumber "327" ; + dcterms:description "็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201081" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Protein S deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใˆใ™ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital protein S deficiency"@en, "Heritable thrombophilia"@en ; + skos:closeMatch obo:MONDO_0002304 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "327" ; + dcterms:description "็‰น็™บๆ€ง่ก€ๆ “็—‡๏ผˆ้บไผๆ€ง่ก€ๆ “ๆ€ง็ด ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰ใฏใ€่ก€ๆถฒๅ‡ๅ›บๅˆถๅพกๅ› ๅญใฎใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS๏ผˆPS๏ผ‰ๅŠใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ใฎๅ…ˆๅคฉ็š„ๆฌ ไนใซใ‚ˆใ‚Š็—…็š„่ก€ๆ “ๅ‚พๅ‘ใจใชใ‚Šใ€่‹ฅๅนดๆ€งใซ้‡็ฏคใช่ก€ๆ “็—‡ใ‚’็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซใฏ่„ณๅ‡บ่ก€ใƒปๆข—ๅกžใ‚„้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใชใฉใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ๅฐๅ…ๆœŸใƒปๆˆไบบใงใฏๆ™‚ใซ่‡ดๆญปๆ€งใจใชใ‚‹้™่„ˆ่ก€ๆ “ๅกžๆ “็—‡ใฎ่‹ฅๅนด็™บ็—‡ใ‚„็นฐใ‚Š่ฟ”ใ™ๅ†็™บใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:1201082" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antithrombin deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใกใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Heritable thrombophilia"@en, "Inherited antithrombin deficiency"@en ; + skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:1201083" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Miller Dieker syndrome"@en, "ใฟใ‚‰ใƒผใƒปใงใƒใŒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒŸใƒฉใƒผใƒปใƒ‡ใ‚ฃใ‚ซใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Miller-Dieker syndrome"@en, "Miller-Dieker็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009532 ; + skos:prefLabel "ใƒŸใƒฉใƒผใƒปใƒ‡ใ‚ฃใ‚ซใƒผ็—‡ๅ€™็พค"@ja . + + + dcterms:identifier "NANDO:2000001" ; + a owl:Class ; + rdfs:label "Specific pediatric chronic disease"@en, "ใ—ใ‚‡ใ†ใซใพใ‚“ใ›ใ„ใจใใฆใ„ใ—ใฃใบใ„"@ja-Hira, "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๅฐๅ…ๆ…ขๆ€ง็‰นๅฎš็–พ็—…"@ja . + + + dcterms:identifier "NANDO:2100001" ; + a owl:Class ; + rdfs:label "Malignant neoplasms"@en, "ใ‚ใใ›ใ„ใ—ใ‚“ใ›ใ„ใถใค"@ja-Hira, "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๆ‚ชๆ€งๆ–ฐ็”Ÿ็‰ฉ"@ja . + + + dcterms:identifier "NANDO:2100002" ; + a owl:Class ; + rdfs:label "Leukemia"@en, "ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "็™ฝ่ก€็—…"@ja ; + rdfs:subClassOf ; + skos:altLabel "Leukaemia"@en ; + skos:closeMatch obo:MONDO_0004355, obo:MONDO_0005059 ; + skos:prefLabel "็™ฝ่ก€็—…"@ja . + + + dcterms:identifier "NANDO:2100003" ; + a owl:Class ; + rdfs:label "Myelodysplastic syndrome"@en, "ใ“ใคใšใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "MDS"@en ; + skos:closeMatch obo:MONDO_0018881, obo:MONDO_0044873 ; skos:prefLabel "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค"@ja . -:2100004 - terms:identifier "2100004" ; + + dcterms:identifier "NANDO:2100004" ; a owl:Class ; - rdfs:label "Lymphoma"@en, "ใƒชใƒณใƒ‘่…ซ"@ja ; - rdfs:subClassOf ; + rdfs:label "Lymphoma"@en, "ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "ใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003659, obo:MONDO_0003660, obo:MONDO_0005062 ; skos:prefLabel "ใƒชใƒณใƒ‘่…ซ"@ja . -:2100005 - terms:identifier "2100005" ; + + dcterms:identifier "NANDO:2100005" ; a owl:Class ; - rdfs:label "Histiocytosis"@en, "็ต„็น”็ƒ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Histiocytosis"@en, "ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ต„็น”็ƒ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002637 ; skos:prefLabel "็ต„็น”็ƒ็—‡"@ja . -:2100006 - terms:identifier "2100006" ; + + dcterms:identifier "NANDO:2100006" ; a owl:Class ; - rdfs:label "Solid tumor (excluding solid tumour of the central nervous system)"@en, "ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Solid tumor (excluding solid tumour of the central nervous system)"@en, "ใ“ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†ใ‚’ใฎใžใใ€‚๏ผ‰"@ja-Hira, "ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅ›บๅฝข่…ซ็˜๏ผˆไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใ‚’้™คใใ€‚๏ผ‰"@ja . -:2100007 - terms:identifier "2100007" ; + + dcterms:identifier "NANDO:2100007" ; a owl:Class ; - rdfs:label "Central nervous system tumors"@en, "ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜"@ja ; - rdfs:subClassOf ; + rdfs:label "Central nervous system tumors"@en, "ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜"@ja ; + rdfs:subClassOf ; + skos:altLabel "CNS tumors"@en ; + skos:closeMatch obo:MONDO_0002714 ; skos:prefLabel "ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜"@ja . -:2100008 - terms:identifier "2100008" ; + + dcterms:identifier "NANDO:2100008" ; a owl:Class ; - rdfs:label "Chronic kidney disease"@en, "ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic kidney disease"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:altLabel "CKD"@en, "ๆ…ขๆ€ง่…Ž่‡“็—…"@ja ; + skos:closeMatch obo:MONDO_0005300 ; skos:prefLabel "ๆ…ขๆ€ง่…Ž็–พๆ‚ฃ"@ja . -:2100009 - terms:identifier "2100009" ; + + dcterms:identifier "NANDO:2100009" ; a owl:Class ; - rdfs:label "Nephrotic syndrome"@en, "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; + rdfs:label "Nephrotic syndrome"@en, "ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005377 ; skos:prefLabel "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja . -:2100010 - terms:identifier "2100010" ; + + dcterms:identifier "NANDO:2100010" ; a owl:Class ; - rdfs:label "Chronic glomerulonephritis"@en, "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic glomerulonephritis"@en, "ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:2100011 - terms:identifier "2100011" ; + + dcterms:identifier "NANDO:2100011" ; a owl:Class ; - rdfs:label "Chronic tubulointerstitial nephritis (excluding urinary tract malformation)"@en, "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja . + rdfs:label "Chronic tubulointerstitial nephritis (excluding urinary tract malformation)"@en, "ใพใ‚“ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž"@ja . -:2100012 - terms:identifier "2100012" ; + + dcterms:identifier "NANDO:2100012" ; a owl:Class ; - rdfs:label "Chronic pyelonephritis"@en, "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic pyelonephritis"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ†ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001110 ; skos:prefLabel "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž"@ja . -:2100013 - terms:identifier "2100013" ; + + dcterms:identifier "NANDO:2100013" ; a owl:Class ; - rdfs:label "Amyloid nephropathy"@en, "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž"@ja ; - rdfs:subClassOf ; + rdfs:label "Amyloid nephropathy"@en, "ใ‚ใฟใ‚ใ„ใฉใ˜ใ‚“"@ja-Hira, "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž"@ja . -:2100014 - terms:identifier "2100014" ; + + dcterms:identifier "NANDO:2100014" ; a owl:Class ; - rdfs:label "Familial juvenile hyperuricaemic nephropathy"@en, "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Familial juvenile hyperuricemic nephropathy"@en, "ใ‹ใžใใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใ†ใซใ‚‡ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "FJHN"@en, "Familial juvenile hyperuricaemic nephropathy"@en ; + skos:closeMatch obo:MONDO_0000608 ; skos:prefLabel "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡"@ja . -:2100015 - terms:identifier "2100015" ; + + dcterms:identifier "NANDO:2100015" ; a owl:Class ; - rdfs:label "Nephronophthisis"@en, "ใƒใƒ•ใƒญใƒณ็™†"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Nephronophthisis"@en, "ใญใตใ‚ใ‚“ใ‚ใ†"@ja-Hira, "ใƒใƒ•ใƒญใƒณ็™†"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Juvenile nephronophthisis"@en, "NPH"@en ; + skos:closeMatch obo:MONDO_0019005 ; skos:prefLabel "ใƒใƒ•ใƒญใƒณ็™†"@ja . -:2100016 - terms:identifier "2100016" ; + + dcterms:identifier "NANDO:2100016" ; a owl:Class ; - rdfs:label "Renovascular hypertension"@en, "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง"@ja ; - rdfs:subClassOf ; + rdfs:label "Renovascular hypertension"@en, "ใ˜ใ‚“ใ‘ใฃใ‹ใ‚“ใ›ใ„ใ“ใ†ใ‘ใคใ‚ใค"@ja-Hira, "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001105, obo:MONDO_0006947 ; skos:prefLabel "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง"@ja . -:2100017 - terms:identifier "2100017" ; + + dcterms:identifier "NANDO:2100017" ; a owl:Class ; - rdfs:label "Renal vein thrombosis"@en, "่…Ž้™่„ˆ่ก€ๆ “็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Renal vein thrombosis"@en, "ใ˜ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่…Ž้™่„ˆ่ก€ๆ “็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "RVT"@en ; skos:prefLabel "่…Ž้™่„ˆ่ก€ๆ “็—‡"@ja . -:2100018 - terms:identifier "2100018" ; + + dcterms:identifier "NANDO:2100018" ; a owl:Class ; - rdfs:label "Renal arteriovenous fistula"@en, "่…Žๅ‹•้™่„ˆ็˜ป"@ja ; - rdfs:subClassOf ; + rdfs:label "Renal arteriovenous fistula"@en, "ใ˜ใ‚“ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ†"@ja-Hira, "่…Žๅ‹•้™่„ˆ็˜ป"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่…Žๅ‹•้™่„ˆ็˜ป"@ja . -:2100019 - terms:identifier "2100019" ; + + dcterms:identifier "NANDO:2100019" ; a owl:Class ; - rdfs:label "Renal tubular acidosis"@en, "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Renal tubular acidosis"@en, "ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ›ใ„ใ‚ใ—ใฉใƒผใ—ใ™"@ja-Hira, "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "RTA"@en ; + skos:closeMatch obo:MONDO_0001909 ; skos:prefLabel "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:2100020 - terms:identifier "2100020" ; + + dcterms:identifier "NANDO:2100020" ; a owl:Class ; - rdfs:label "Gitelman Bartter syndrome"@en, "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ๏ผˆGitelman๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ๏ผˆGitelman๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Gitelman syndrome"@en, "ใŽใฃใฆใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GS"@en, "Gitelman็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009904 ; + skos:prefLabel "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja . -:2100021 - terms:identifier "2100021" ; + + dcterms:identifier "NANDO:2100021" ; a owl:Class ; - rdfs:label "Bartter Gitelman syndrome"@en, "ใƒใƒผใ‚ฟใƒผ๏ผˆBartter๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒใƒผใ‚ฟใƒผ๏ผˆBartter๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Bartter syndrome"@en, "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "BS"@en, "Bartter็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0015231 ; + skos:prefLabel "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค"@ja . -:2100022 - terms:identifier "2100022" ; + + dcterms:identifier "NANDO:2100022" ; a owl:Class ; - rdfs:label "Nephro- and urolithiasis"@en, "่…Žๅฐฟ็ฎก็ต็Ÿณ"@ja ; - rdfs:subClassOf ; + rdfs:label "Nephro- and urolithiasis"@en, "ใ˜ใ‚“ใซใ‚‡ใ†ใ‹ใ‚“ใ‘ใฃใ›ใ"@ja-Hira, "่…Žๅฐฟ็ฎก็ต็Ÿณ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Nephro-urolithiasis"@en ; skos:prefLabel "่…Žๅฐฟ็ฎก็ต็Ÿณ"@ja . -:2100023 - terms:identifier "2100023" ; + + dcterms:identifier "NANDO:2100023" ; a owl:Class ; - rdfs:label "Chronic renal failure"@en, "ๆ…ขๆ€ง่…Žไธๅ…จ"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic renal failure"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“"@ja-Hira, "ๆ…ขๆ€ง่…Žไธๅ…จ"@ja ; + rdfs:subClassOf ; + skos:altLabel "CRF"@en ; + skos:closeMatch obo:MONDO_0005300, obo:MONDO_0024327 ; skos:prefLabel "ๆ…ขๆ€ง่…Žไธๅ…จ"@ja . -:2100024 - terms:identifier "2100024" ; + + dcterms:identifier "NANDO:2100024" ; a owl:Class ; - rdfs:label "Renal malformation"@en, "่…Žๅฅ‡ๅฝข"@ja ; - rdfs:subClassOf ; + rdfs:label "Renal malformation"@en, "ใ˜ใ‚“ใใ‘ใ„"@ja-Hira, "่…Žๅฅ‡ๅฝข"@ja ; + rdfs:subClassOf ; skos:prefLabel "่…Žๅฅ‡ๅฝข"@ja . -:2100025 - terms:identifier "2100025" ; + + dcterms:identifier "NANDO:2100025" ; a owl:Class ; - rdfs:label "Urinary tract malformation"@en, "ๅฐฟ่ทฏๅฅ‡ๅฝข"@ja ; - rdfs:subClassOf ; + rdfs:label "Urinary tract malformation"@en, "ใซใ‚‡ใ†ใ‚ใใ‘ใ„"@ja-Hira, "ๅฐฟ่ทฏๅฅ‡ๅฝข"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅฐฟ่ทฏๅฅ‡ๅฝข"@ja . -:2100026 - terms:identifier "2100026" ; + + dcterms:identifier "NANDO:2100026" ; a owl:Class ; - rdfs:label "Atrophic kidney (excluding urinary tract malformation)"@en, "่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Atrophic kidney (excluding urinary tract malformation)"@en, "ใ„ใ—ใ‚…ใใ˜ใ‚“๏ผˆใซใ‚‡ใ†ใ‚ใใ‘ใ„ใŒใ’ใ‚“ใ„ใ‚“ใฎใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰"@ja-Hira, "่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่Ž็ธฎ่…Ž๏ผˆๅฐฟ่ทฏๅฅ‡ๅฝขใŒๅŽŸๅ› ใฎใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja . -:2100027 - terms:identifier "2100027" ; + + dcterms:identifier "NANDO:2100027" ; a owl:Class ; - rdfs:label "Fanconi syndrome"@en, "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹๏ผˆFanconi๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Fanconi syndrome"@en, "ใตใใ‚“ใ“ใƒผใซใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Fanconi็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0001083 ; + skos:prefLabel "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค"@ja . -:2100028 - terms:identifier "2100028" ; + + dcterms:identifier "NANDO:2100028" ; a owl:Class ; - rdfs:label "Lowe syndrome"@en, "ใƒญใ‚ฆ๏ผˆLowe๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒญใ‚ฆ๏ผˆLowe๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Lowe syndrome"@en, "ใ‚ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒญใ‚ฆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Lowe็—‡ๅ€™็พค"@ja, "OCRL"@en, "Oculocerebrorenal syndrome of Lowe"@en ; + skos:closeMatch obo:MONDO_0010645 ; + skos:prefLabel "ใƒญใ‚ฆ็—‡ๅ€™็พค"@ja . -:2100029 - terms:identifier "2100029" ; + + dcterms:identifier "NANDO:2100029" ; a owl:Class ; - rdfs:label "Chronic respiratory disease"@en, "ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic respiratory disease"@en, "ใพใ‚“ใ›ใ„ใ“ใใ‚…ใ†ใใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๅ‘ผๅธๅ™จ็–พๆ‚ฃ"@ja . -:2100030 - terms:identifier "2100030" ; + + dcterms:identifier "NANDO:2100030" ; a owl:Class ; - rdfs:label "Airway obstruction and stenosis"@en, "ๆฐ—้“็‹ญ็ช„"@ja ; - rdfs:subClassOf ; + rdfs:label "Airway obstruction and stenosis"@en, "ใใฉใ†ใใ‚‡ใ†ใ•ใ"@ja-Hira, "ๆฐ—้“็‹ญ็ช„"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๆฐ—้“็‹ญ็ช„"@ja . -:2100031 - terms:identifier "2100031" ; + + dcterms:identifier "NANDO:2100031" ; a owl:Class ; - rdfs:label "Bronchial asthma"@en, "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ"@ja ; - rdfs:subClassOf ; + rdfs:label "Bronchial asthma"@en, "ใใ‹ใ‚“ใ—ใœใ‚“ใใ"@ja-Hira, "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010940 ; skos:prefLabel "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ"@ja . -:2100032 - terms:identifier "2100032" ; + + dcterms:identifier "NANDO:2100032" ; a owl:Class ; - rdfs:label "Congenital central hypoventilation syndrome"@en, "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Congenital central hypoventilation syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CCHS"@en ; + skos:closeMatch obo:MONDO_0008852 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja . -:2100033 - terms:identifier "2100033" ; + + dcterms:identifier "NANDO:2100033" ; a owl:Class ; - rdfs:label "Interstitial pneumonia"@en, "้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Interstitial pneumonia"@en, "ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:altLabel "IP"@en ; skos:prefLabel "้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ"@ja . -:2100034 - terms:identifier "2100034" ; + + dcterms:identifier "NANDO:2100034" ; a owl:Class ; - rdfs:label "primary ciliary dyskinesia"@en, "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Primary ciliary dyskinesia"@en, "ใ›ใ‚“ใ‚‚ใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016575 ; skos:prefLabel "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค"@ja . -:2100035 - terms:identifier "2100035" ; + + dcterms:identifier "NANDO:2100035" ; a owl:Class ; - rdfs:label "Cystic fibrosis"@en, "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Cystic fibrosis"@en, "ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CF"@en ; + skos:closeMatch obo:MONDO_0009061 ; skos:prefLabel "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja . -:2100036 - terms:identifier "2100036" ; + + dcterms:identifier "NANDO:2100036" ; a owl:Class ; - rdfs:label "Bronchiectasis"@en, "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Bronchiectasis"@en, "ใใ‹ใ‚“ใ—ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "BE"@en ; + skos:closeMatch obo:MONDO_0004822 ; skos:prefLabel "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡"@ja . -:2100037 - terms:identifier "2100037" ; + + dcterms:identifier "NANDO:2100037" ; a owl:Class ; - rdfs:label "Idiopathic pulmonary hemosiderosis"@en, "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น"@ja ; - rdfs:subClassOf ; + rdfs:label "Idiopathic pulmonary hemosiderosis"@en, "ใจใใฏใคใ›ใ„ใฏใ„ใธใ‚‚ใ˜ใงใ‚ใƒผใ—ใ™"@ja-Hira, "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Idiopathic pulmonary haemosiderosis"@en ; + skos:closeMatch obo:MONDO_0008346 ; skos:prefLabel "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น"@ja . -:2100038 - terms:identifier "2100038" ; + + dcterms:identifier "NANDO:2100038" ; a owl:Class ; - rdfs:label "Chronic lung disease"@en, "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic lung disease"@en, "ใพใ‚“ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:altLabel "CLD"@en ; skos:prefLabel "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ"@ja . -:2100039 - terms:identifier "2100039" ; + + dcterms:identifier "NANDO:2100039" ; a owl:Class ; - rdfs:label "Bronchiolitis obliterans"@en, "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Bronchiolitis obliterans"@en, "ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“"@ja-Hira, "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "BO"@en, "Obliterating bronchiolitis"@en ; + skos:closeMatch obo:MONDO_0015265 ; skos:prefLabel "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja . -:2100040 - terms:identifier "2100040" ; + + dcterms:identifier "NANDO:2100040" ; a owl:Class ; - rdfs:label "Congenital diaphragmatic hernia"@en, "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Congenital diaphragmatic hernia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CDH"@en ; + skos:closeMatch obo:MONDO_0005711 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja . -:2100041 - terms:identifier "2100041" ; + + dcterms:identifier "NANDO:2100041" ; a owl:Class ; - rdfs:label "Congenital cystic lung disease"@en, "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Congenital cystic lung disease"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ"@ja . -:2100042 - terms:identifier "2100042" ; + + dcterms:identifier "NANDO:2100042" ; a owl:Class ; - rdfs:label "Chronic heart disease"@en, "ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic heart disease"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๅฟƒ็–พๆ‚ฃ"@ja . -:2100043 - terms:identifier "2100043" ; + + dcterms:identifier "NANDO:2100043" ; a owl:Class ; - rdfs:label "Sick sinus syndrome"@en, "ๆดžไธๅ…จ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Sick sinus syndrome"@en, "ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆดžไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "SSS"@en ; + skos:closeMatch obo:MONDO_0001823 ; skos:prefLabel "ๆดžไธๅ…จ็—‡ๅ€™็พค"@ja . -:2100044 - terms:identifier "2100044" ; + + dcterms:identifier "NANDO:2100044" ; a owl:Class ; - rdfs:label "Mobitz type II second degree atrioventricular block"@en, "ใƒขใƒ“ใƒƒใƒ„๏ผˆMobitz๏ผ‰2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ "@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒขใƒ“ใƒƒใƒ„๏ผˆMobitz๏ผ‰2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ "@ja . + rdfs:label "Mobitz type II second degree atrioventricular block"@en, "ใ‚‚ใณใฃใค๏ผ’ใŒใŸใถใ‚ใฃใ"@ja-Hira, "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Mobitz2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ "@ja ; + skos:closeMatch obo:MONDO_0001261 ; + skos:prefLabel "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ"@ja . -:2100045 - terms:identifier "2100045" ; + + dcterms:identifier "NANDO:2100045" ; a owl:Class ; - rdfs:label "Complete atrio-ventricular block"@en, "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ "@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ "@ja . + rdfs:label "Complete atrio-ventricular block"@en, "ใ‹ใ‚“ใœใ‚“ใผใ†ใ—ใคใถใ‚ใฃใ"@ja-Hira, "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ"@ja . -:2100046 - terms:identifier "2100046" ; + + dcterms:identifier "NANDO:2100046" ; a owl:Class ; - rdfs:label "Bundle branch block"@en, "่„šใƒ–ใƒญใƒƒใ‚ฏ"@ja ; - rdfs:subClassOf ; + rdfs:label "Bundle branch block"@en, "ใใ‚ƒใใถใ‚ใฃใ"@ja-Hira, "่„šใƒ–ใƒญใƒƒใ‚ฏ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020803 ; skos:prefLabel "่„šใƒ–ใƒญใƒƒใ‚ฏ"@ja . -:2100047 - terms:identifier "2100047" ; + + dcterms:identifier "NANDO:2100047" ; a owl:Class ; - rdfs:label "Polymorphic ventricular premature beat"@en, "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ"@ja ; - rdfs:subClassOf ; + rdfs:label "Polymorphic ventricular premature beat"@en, "ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใ—ใคใใŒใ„ใ—ใ‚…ใ†ใ—ใ‚…ใ"@ja-Hira, "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ"@ja . -:2100048 - terms:identifier "2100048" ; + + dcterms:identifier "NANDO:2100048" ; a owl:Class ; - rdfs:label "Supraventricular tachycardia"@en, "ไธŠๅฎค้ ปๆ‹"@ja ; - rdfs:subClassOf ; + rdfs:label "Supraventricular tachycardia"@en, "ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "ไธŠๅฎค้ ปๆ‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ไธŠๅฎค้ ปๆ‹"@ja . -:2100049 - terms:identifier "2100049" ; + + dcterms:identifier "NANDO:2100049" ; a owl:Class ; - rdfs:label "Ventricular tachycardia"@en, "ๅฟƒๅฎค้ ปๆ‹"@ja ; - rdfs:subClassOf ; + rdfs:label "Ventricular tachycardia"@en, "ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "ๅฟƒๅฎค้ ปๆ‹"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005477 ; skos:prefLabel "ๅฟƒๅฎค้ ปๆ‹"@ja . -:2100050 - terms:identifier "2100050" ; + + dcterms:identifier "NANDO:2100050" ; a owl:Class ; - rdfs:label "Atrial flutter"@en, "ๅฟƒๆˆฟ็ฒ—ๅ‹•"@ja ; - rdfs:subClassOf ; + rdfs:label "Atrial flutter"@en, "ใ—ใ‚“ใผใ†ใใฉใ†"@ja-Hira, "ๅฟƒๆˆฟ็ฒ—ๅ‹•"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005310 ; skos:prefLabel "ๅฟƒๆˆฟ็ฒ—ๅ‹•"@ja . -:2100051 - terms:identifier "2100051" ; + + dcterms:identifier "NANDO:2100051" ; a owl:Class ; - rdfs:label "Atrial Fibrillation"@en, "ๅฟƒๆˆฟ็ดฐๅ‹•"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Atrial fibrillation"@en, "ใ—ใ‚“ใผใ†ใ•ใ„ใฉใ†"@ja-Hira, "ๅฟƒๆˆฟ็ดฐๅ‹•"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "AF"@en ; + skos:closeMatch obo:MONDO_0004981 ; skos:prefLabel "ๅฟƒๆˆฟ็ดฐๅ‹•"@ja . -:2100052 - terms:identifier "2100052" ; + + dcterms:identifier "NANDO:2100052" ; a owl:Class ; - rdfs:label "Ventricular fibrillation"@en, "ๅฟƒๅฎค็ดฐๅ‹•"@ja ; - rdfs:subClassOf ; + rdfs:label "Ventricular fibrillation"@en, "ใ—ใ‚“ใ—ใคใ•ใ„ใฉใ†"@ja-Hira, "ๅฟƒๅฎค็ดฐๅ‹•"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000190 ; skos:prefLabel "ๅฟƒๅฎค็ดฐๅ‹•"@ja . -:2100053 - terms:identifier "2100053" ; + + dcterms:identifier "NANDO:2100053" ; a owl:Class ; - rdfs:label "Long QT syndrome"@en, "QTๅปถ้•ท็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Long QT syndrome"@en, "QTๅปถ้•ท็—‡ๅ€™็พค"@ja, "ใใ‚…ใƒผใฆใƒใƒผใˆใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "LQTS"@en ; + skos:closeMatch obo:MONDO_0002442 ; skos:prefLabel "QTๅปถ้•ท็—‡ๅ€™็พค"@ja . -:2100054 - terms:identifier "2100054" ; + + dcterms:identifier "NANDO:2100054" ; a owl:Class ; - rdfs:label "Hypertrophic cardiomyopathy"@en, "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hypertrophic cardiomyopathy"@en, "ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "HCM"@en ; + skos:closeMatch obo:MONDO_0005045 ; skos:prefLabel "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:2100055 - terms:identifier "2100055" ; + + dcterms:identifier "NANDO:2100055" ; a owl:Class ; - rdfs:label "Arrhythmogenic right ventricular cardiomyopathy or dysplasia"@en, "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Arrhythmogenic right ventricular cardiomyopathy or dysplasia"@en, "ใตใ›ใ„ใฟใ‚ƒใใ’ใ‚“ใ›ใ„ใ†ใ—ใคใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016587 ; skos:prefLabel "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡"@ja . -:2100056 - terms:identifier "2100056" ; + + dcterms:identifier "NANDO:2100056" ; a owl:Class ; - rdfs:label "Non-compaction of the ventricle"@en, "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ"@ja ; - rdfs:subClassOf ; + rdfs:label "Non-compaction of the ventricle"@en, "ใ—ใ‚“ใใ‚“ใกใฟใคใ‹ใ—ใ‚‡ใ†ใŒใ„"@ja-Hira, "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ"@ja . -:2100057 - terms:identifier "2100057" ; + + dcterms:identifier "NANDO:2100057" ; a owl:Class ; - rdfs:label "Dilated cardiomyopathy"@en, "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Dilated cardiomyopathy"@en, "ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "DCM"@en ; + skos:closeMatch obo:MONDO_0005021 ; skos:prefLabel "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:2100058 - terms:identifier "2100058" ; + + dcterms:identifier "NANDO:2100058" ; a owl:Class ; - rdfs:label "Restricted cardiomyopathy"@en, "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Restrictive cardiomyopathy"@en, "ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Restricted cardiomyopathy"@en ; + skos:closeMatch obo:MONDO_0005201 ; skos:prefLabel "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:2100059 - terms:identifier "2100059" ; + + dcterms:identifier "NANDO:2100059" ; a owl:Class ; - rdfs:label "Aneurysm of ventricle"@en, "ๅฟƒๅฎค็˜ค"@ja ; - rdfs:subClassOf ; + rdfs:label "Aneurysm of ventricle"@en, "ใ—ใ‚“ใ—ใคใ‚Šใ‚…ใ†"@ja-Hira, "ๅฟƒๅฎค็˜ค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Diverticulum of ventricle"@en ; skos:prefLabel "ๅฟƒๅฎค็˜ค"@ja . -:2100060 - terms:identifier "2100060" ; + + dcterms:identifier "NANDO:2100060" ; a owl:Class ; - rdfs:label "Endocardial fibroelastosis"@en, "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Endocardial fibroelastosis"@en, "ใ—ใ‚“ใชใ„ใพใใ›ใ‚“ใ„ใ ใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009169 ; skos:prefLabel "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡"@ja . -:2100061 - terms:identifier "2100061" ; + + dcterms:identifier "NANDO:2100061" ; a owl:Class ; - rdfs:label "Cardiac tumor"@en, "ๅฟƒ่‡“่…ซ็˜"@ja ; - rdfs:subClassOf ; + rdfs:label "Cardiac tumor"@en, "ใ—ใ‚“ใžใ†ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๅฟƒ่‡“่…ซ็˜"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0021209 ; skos:prefLabel "ๅฟƒ่‡“่…ซ็˜"@ja . -:2100062 - terms:identifier "2100062" ; + + dcterms:identifier "NANDO:2100062" ; a owl:Class ; - rdfs:label "Chronic myocarditis"@en, "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic myocarditis"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž"@ja . -:2100063 - terms:identifier "2100063" ; + + dcterms:identifier "NANDO:2100063" ; a owl:Class ; - rdfs:label "Chronic pericarditis"@en, "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic pericarditis"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใพใใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž"@ja . -:2100064 - terms:identifier "2100064" ; + + dcterms:identifier "NANDO:2100064" ; a owl:Class ; - rdfs:label "Constrictive pericarditis"@en, "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž"@ja ; - rdfs:subClassOf ; + rdfs:label "Constrictive pericarditis"@en, "ใ—ใ‚…ใ†ใ—ใ‚…ใใ›ใ„ใ—ใ‚“ใพใใˆใ‚“"@ja-Hira, "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006711 ; skos:prefLabel "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž"@ja . -:2100065 - terms:identifier "2100065" ; + + dcterms:identifier "NANDO:2100065" ; a owl:Class ; - rdfs:label "Congenital defect of the pericardium"@en, "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Congenital defect of the pericardium"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚“ใพใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡"@ja . -:2100066 - terms:identifier "2100066" ; + + dcterms:identifier "NANDO:2100066" ; a owl:Class ; - rdfs:label "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants"@en, "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚"@ja ; - rdfs:subClassOf ; + rdfs:label "Idiopathic rupture of chordae tendineae of the mitral valve in infants"@en, "ใซใ‚…ใ†ใ˜ใจใใฏใคใ›ใ„ใใ†ใผใ†ในใ‚“ใ‘ใ‚“ใ•ใใ ใ‚“ใ‚Œใค"@ja-Hira, "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚"@ja . -:2100067 - terms:identifier "2100067" ; + + dcterms:identifier "NANDO:2100067" ; a owl:Class ; - rdfs:label "Abnormal origin of coronary artery from pulmonary artery"@en, "ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ"@ja ; - rdfs:subClassOf ; + rdfs:label "Abnormal origin of coronary artery from pulmonary artery"@en, "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ—ใ„ใ˜ใ‚‡ใ†"@ja-Hira, "ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ"@ja . -:2100068 - terms:identifier "2100068" ; + + dcterms:identifier "NANDO:2100068" ; a owl:Class ; - rdfs:label "Coronary aneurysms complicated with kawasaki disease"@en, "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค"@ja ; - rdfs:subClassOf ; + rdfs:label "Coronary aneurysms complicated with Kawasaki disease"@en, "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค"@ja . -:2100069 - terms:identifier "2100069" ; + + dcterms:identifier "NANDO:2100069" ; a owl:Class ; - rdfs:label "Stenosis or atresia of coronary artery"@en, "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Stenosis or atresia of coronary artery (not caused by Kawasaki disease)"@en, "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†๏ผˆใ‹ใ‚ใ•ใใณใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰"@ja-Hira, "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡๏ผˆๅทๅดŽ็—…ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja . -:2100070 - terms:identifier "2100070" ; + + dcterms:identifier "NANDO:2100070" ; a owl:Class ; - rdfs:label "Ischemic heart disease"@en, "่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Ischemic heart disease"@en, "ใใ‚‡ใ‘ใคใ›ใ„ใ—ใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:altLabel "Ischaemic heart disease"@en ; + skos:closeMatch obo:MONDO_0024644 ; skos:prefLabel "่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃ"@ja . -:2100071 - terms:identifier "2100071" ; + + dcterms:identifier "NANDO:2100071" ; a owl:Class ; - rdfs:label "Hypoplastic left heart syndrome"@en, "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hypoplastic left heart syndrome"@en, "ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "HLHS"@en ; + skos:closeMatch obo:MONDO_0004933 ; skos:prefLabel "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja . -:2100072 - terms:identifier "2100072" ; + + dcterms:identifier "NANDO:2100072" ; a owl:Class ; - rdfs:label "Single ventricle"@en, "ๅ˜ๅฟƒๅฎค็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Single ventricle"@en, "ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ†"@ja-Hira, "ๅ˜ๅฟƒๅฎค็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅ˜ๅฟƒๅฎค็—‡"@ja . -:2100073 - terms:identifier "2100073" ; + + dcterms:identifier "NANDO:2100073" ; a owl:Class ; - rdfs:label "Tricuspid atresia"@en, "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Tricuspid atresia"@en, "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011514 ; skos:prefLabel "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja . -:2100074 - terms:identifier "2100074" ; + + dcterms:identifier "NANDO:2100074" ; a owl:Class ; - rdfs:label "Pulmonary atresia"@en, "่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ "@ja ; - rdfs:subClassOf ; + rdfs:label "Pulmonary atresia"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ "@ja ; + rdfs:subClassOf ; + skos:altLabel "PA"@en ; skos:prefLabel "่‚บๅ‹•่„ˆ้–‰้Ž–็—‡ "@ja . -:2100075 - terms:identifier "2100075" ; + + dcterms:identifier "NANDO:2100075" ; a owl:Class ; - rdfs:label "Tetralogy of Fallot"@en, "ใƒ•ใ‚กใƒญใƒผ๏ผˆFallot๏ผ‰ๅ››ๅพด็—‡"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒ•ใ‚กใƒญใƒผ๏ผˆFallot๏ผ‰ๅ››ๅพด็—‡"@ja . + rdfs:label "Tetralogy of Fallot"@en, "ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Fallot's Tetralogy"@en, "Fallotๅ››ๅพด็—‡"@ja ; + skos:closeMatch obo:MONDO_0008542 ; + skos:prefLabel "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja . -:2100076 - terms:identifier "2100076" ; + + dcterms:identifier "NANDO:2100076" ; a owl:Class ; - rdfs:label "Double-outlet right ventricle"@en, "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Double outlet right ventricle"@en, "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "DORV"@en ; + skos:closeMatch obo:MONDO_0018089 ; skos:prefLabel "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja . -:2100077 - terms:identifier "2100077" ; + + dcterms:identifier "NANDO:2100077" ; a owl:Class ; - rdfs:label "Double-outlet left ventricle"@en, "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Double-outlet left ventricle"@en, "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ•ใ—ใคใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018090 ; skos:prefLabel "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡"@ja . -:2100078 - terms:identifier "2100078" ; + + dcterms:identifier "NANDO:2100078" ; a owl:Class ; - rdfs:label "Complete transposition of the great arteries"@en, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Complete transposition of the great arteries"@en, "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Complete TGA"@en ; skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja . -:2100079 - terms:identifier "2100079" ; + + dcterms:identifier "NANDO:2100079" ; a owl:Class ; - rdfs:label "Congenitally corrected transposition of the great arteries"@en, "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Congenitally corrected transposition of the great arteries"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016301 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja . -:2100080 - terms:identifier "2100080" ; + + dcterms:identifier "NANDO:2100080" ; a owl:Class ; - rdfs:label "Ebsteinโ€™s anomaly"@en, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEbstein๏ผ‰็—…"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEbstein๏ผ‰็—…"@ja . + rdfs:label "Ebstein's anomaly"@en, "ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Ebstein anomaly"@en, "Ebstein malformation"@en, "Ebstein's malformation"@en, "Ebsteinๅฅ‡ๅฝข"@ja, "Ebstein็—…"@ja ; + skos:closeMatch obo:MONDO_0009144 ; + skos:prefLabel "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja . -:2100081 - terms:identifier "2100081" ; + + dcterms:identifier "NANDO:2100081" ; a owl:Class ; - rdfs:label "Truncus arteriosus communis"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Truncus arteriosus communis"@en, "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja . -:2100082 - terms:identifier "2100082" ; + + dcterms:identifier "NANDO:2100082" ; a owl:Class ; - rdfs:label "Aorto-pulmonary window"@en, "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ "@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ "@ja . + rdfs:label "Aorto-pulmonary window"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ†"@ja-Hira, "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0021902 ; + skos:prefLabel "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“"@ja . -:2100083 - terms:identifier "2100083" ; + + dcterms:identifier "NANDO:2100083" ; a owl:Class ; - rdfs:label "Cor triatriatum"@en, "ไธ‰ๅฟƒๆˆฟๅฟƒ"@ja ; - rdfs:subClassOf ; + rdfs:label "Cor triatriatum"@en, "ใ•ใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚“"@ja-Hira, "ไธ‰ๅฟƒๆˆฟๅฟƒ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015450 ; skos:prefLabel "ไธ‰ๅฟƒๆˆฟๅฟƒ"@ja . -:2100084 - terms:identifier "2100084" ; + + dcterms:identifier "NANDO:2100084" ; a owl:Class ; - rdfs:label "Patent ductus arteriosus"@en, "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Patent ductus arteriosus"@en, "ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ‹ใ„ใžใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "PDA"@en ; + skos:closeMatch obo:MONDO_0011827 ; skos:prefLabel "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡"@ja . -:2100085 - terms:identifier "2100085" ; + + dcterms:identifier "NANDO:2100085" ; a owl:Class ; - rdfs:label "Atrial septal defect"@en, "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Atrial septal defect"@en, "ใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006664 ; skos:prefLabel "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja . -:2100086 - terms:identifier "2100086" ; + + dcterms:identifier "NANDO:2100086" ; a owl:Class ; - rdfs:label "Complete atrioventricular septal defect"@en, "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Complete atrioventricular septal defect"@en, "ใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015273 ; skos:prefLabel "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja . -:2100087 - terms:identifier "2100087" ; + + dcterms:identifier "NANDO:2100087" ; a owl:Class ; - rdfs:label "Ventricular septal defect"@en, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Ventricular septal defect"@en, "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "VSD"@en ; + skos:closeMatch obo:MONDO_0002070 ; skos:prefLabel "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja . -:2100088 - terms:identifier "2100088" ; + + dcterms:identifier "NANDO:2100088" ; a owl:Class ; - rdfs:label "Total anomalous pulmonary venous connection"@en, "่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; - skos:prefLabel "่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja . + rdfs:label "Total anomalous pulmonary venous connection"@en, "ใใ†ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja . -:2100089 - terms:identifier "2100089" ; + + dcterms:identifier "NANDO:2100089" ; a owl:Class ; - rdfs:label "Pulmonary venous obstruction"@en, "่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Pulmonary venous obstruction"@en, "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja . -:2100090 - terms:identifier "2100090" ; + + dcterms:identifier "NANDO:2100090" ; a owl:Class ; - rdfs:label "Left ventricular-right atrial communication"@en, "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Left ventricular-right atrial communication"@en, "ใ•ใ—ใคใ†ใผใ†ใ“ใ†ใคใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020428 ; skos:prefLabel "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡"@ja . -:2100091 - terms:identifier "2100091" ; + + dcterms:identifier "NANDO:2100091" ; a owl:Class ; - rdfs:label "Double-chambered right ventricle"@en, "ๅณๅฎคไบŒ่…”็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Double-chambered right ventricle"@en, "ใ†ใ—ใคใซใใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅณๅฎคไบŒ่…”็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅณๅฎคไบŒ่…”็—‡"@ja . -:2100092 - terms:identifier "2100092" ; + + dcterms:identifier "NANDO:2100092" ; a owl:Class ; - rdfs:label "Subvalvular pulmonary stenosis"@en, "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Subvalvular pulmonary stenosis"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006935 ; skos:prefLabel "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja . -:2100093 - terms:identifier "2100093" ; + + dcterms:identifier "NANDO:2100093" ; a owl:Class ; - rdfs:label "Subvalvular aortic stenosis"@en, "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Subvalvular aortic stenosis"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006987 ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja . -:2100094 - terms:identifier "2100094" ; + + dcterms:identifier "NANDO:2100094" ; a owl:Class ; - rdfs:label "Supravalvular pulmonary stenosis"@en, "่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Pulmonary arteriostenosis"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja . -:2100095 - terms:identifier "2100095" ; + + dcterms:identifier "NANDO:2100095" ; a owl:Class ; - rdfs:label "Absent pulmonary valve"@en, "่‚บๅ‹•่„ˆๅผๆฌ ๆ"@ja ; - rdfs:subClassOf ; + rdfs:label "Absent pulmonary valve"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‘ใฃใใ‚“"@ja-Hira, "่‚บๅ‹•่„ˆๅผๆฌ ๆ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020064 ; skos:prefLabel "่‚บๅ‹•่„ˆๅผๆฌ ๆ"@ja . -:2100096 - terms:identifier "2100096" ; + + dcterms:identifier "NANDO:2100096" ; a owl:Class ; - rdfs:label "Origin of pulmonary artery from ascending aorta"@en, "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Origin of pulmonary artery from ascending aorta"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใใ˜ใ‚‡ใ†ใ“ใ†ใ ใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡"@ja . -:2100097 - terms:identifier "2100097" ; + + dcterms:identifier "NANDO:2100097" ; a owl:Class ; - rdfs:label "Unilateral absence of a pulmonary artery"@en, "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ"@ja ; - rdfs:subClassOf ; + rdfs:label "Unilateral absence of a pulmonary artery"@en, "ใ„ใฃใใใฏใ„ใฉใ†ใฟใ‚ƒใใ‘ใฃใใ‚“"@ja-Hira, "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ"@ja . -:2100098 - terms:identifier "2100098" ; + + dcterms:identifier "NANDO:2100098" ; a owl:Class ; - rdfs:label "Coarctation of the aorta"@en, "ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Aortic stenosis"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004978 ; skos:prefLabel "ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja . -:2100099 - terms:identifier "2100099" ; + + dcterms:identifier "NANDO:2100099" ; a owl:Class ; - rdfs:label "Aortic arch occlusive disease"@en, "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Aortic arch occlusive disease"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใธใ„ใใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡"@ja . -:2100100 - terms:identifier "2100100" ; + + dcterms:identifier "NANDO:2100100" ; a owl:Class ; - rdfs:label "Vascular ring"@en, "่ก€็ฎก่ผช"@ja ; - rdfs:subClassOf ; + rdfs:label "Vascular ring"@en, "ใ‘ใฃใ‹ใ‚“ใ‚Šใ‚“"@ja-Hira, "่ก€็ฎก่ผช"@ja ; + rdfs:subClassOf ; skos:prefLabel "่ก€็ฎก่ผช"@ja . -:2100101 - terms:identifier "2100101" ; + + dcterms:identifier "NANDO:2100101" ; a owl:Class ; - rdfs:label "Aortic aneurysm"@en, "ๅคงๅ‹•่„ˆ็˜ค"@ja ; - rdfs:subClassOf ; + rdfs:label "Aortic aneurysm"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆ็˜ค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005160 ; skos:prefLabel "ๅคงๅ‹•่„ˆ็˜ค"@ja . -:2100102 - terms:identifier "2100102" ; + + dcterms:identifier "NANDO:2100102" ; a owl:Class ; - rdfs:label "Arteriovenous fistulae"@en, "ๅ‹•้™่„ˆ็˜ป"@ja ; - rdfs:subClassOf ; + rdfs:label "Arteriovenous fistulae"@en, "ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ†"@ja-Hira, "ๅ‹•้™่„ˆ็˜ป"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅ‹•้™่„ˆ็˜ป"@ja . -:2100103 - terms:identifier "2100103" ; + + dcterms:identifier "NANDO:2100103" ; a owl:Class ; - rdfs:label "Idiopathic pulmonary arterial hypertension"@en, "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Pulmonary arterial hypertension"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "IPAH"@en, "PAH"@en, "็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + skos:closeMatch obo:MONDO_0015924 ; skos:prefLabel "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja . -:2100104 - terms:identifier "2100104" ; + + dcterms:identifier "NANDO:2100104" ; a owl:Class ; - rdfs:label "Chronic cor pulmonale"@en, "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic cor pulmonale"@en, "ใพใ‚“ใ›ใ„ใฏใ„ใ›ใ„ใ—ใ‚“"@ja-Hira, "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ"@ja . -:2100105 - terms:identifier "2100105" ; + + dcterms:identifier "NANDO:2100105" ; a owl:Class ; - rdfs:label "Valvular heart disease"@en, "ๅฟƒ่‡“ๅผ่†œ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Valvular heart disease"@en, "ใ—ใ‚“ใžใ†ในใ‚“ใพใใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒ่‡“ๅผ่†œ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002869 ; skos:prefLabel "ๅฟƒ่‡“ๅผ่†œ็—‡"@ja . -:2100106 - terms:identifier "2100106" ; + + dcterms:identifier "NANDO:2100106" ; a owl:Class ; - rdfs:label "Supramitral ring"@en, "ๅƒงๅธฝๅผๅผไธŠ่ผช"@ja ; - rdfs:subClassOf ; + rdfs:label "Supramitral ring"@en, "ใใ†ใผใ†ในใ‚“ในใ‚“ใ˜ใ‚‡ใ†ใ‚Šใ‚“"@ja-Hira, "ๅƒงๅธฝๅผๅผไธŠ่ผช"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅƒงๅธฝๅผๅผไธŠ่ผช"@ja . -:2100107 - terms:identifier "2100107" ; + + dcterms:identifier "NANDO:2100107" ; a owl:Class ; - rdfs:label "Hheterotaxy syndrome"@en, "ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Hheterotaxy syndrome"@en, "ใชใ„ใžใ†ใ•ใใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅ†…่‡“้Œฏไฝ็—‡ๅ€™็พค"@ja . -:2100108 - terms:identifier "2100108" ; + + dcterms:identifier "NANDO:2100108" ; a owl:Class ; - rdfs:label "Post-Fontan syndrome"@en, "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ๏ผˆFontan๏ผ‰่ก“ๅพŒ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ๏ผˆFontan๏ผ‰่ก“ๅพŒ็—‡ๅ€™็พค"@ja . + rdfs:label "Post-Fontan syndrome"@en, "ใตใ‰ใ‚“ใŸใ‚“ใ˜ใ‚…ใคใ”ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Fontan่ก“ๅพŒ็—‡ๅ€™็พค"@ja ; + skos:prefLabel "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค"@ja . -:2100109 - terms:identifier "2100109" ; + + dcterms:identifier "NANDO:2100109" ; a owl:Class ; - rdfs:label "Endocrine disease"@en, "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Endocrine disease"@en, "ใชใ„ใถใ‚“ใดใคใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005151 ; skos:prefLabel "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃ"@ja . -:2100110 - terms:identifier "2100110" ; + + dcterms:identifier "NANDO:2100110" ; a owl:Class ; - rdfs:label "Hypopituitarism"@en, "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Hypopituitarism"@en, "ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005152 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2100111 - terms:identifier "2100111" ; + + dcterms:identifier "NANDO:2100111" ; a owl:Class ; - rdfs:label "Pituitary gigantism"@en, "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Pituitary gigantism"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใใ‚‡ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020479 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡"@ja . -:2100112 - terms:identifier "2100112" ; + + dcterms:identifier "NANDO:2100112" ; a owl:Class ; - rdfs:label "Acromegaly"@en, "ๅ…ˆ็ซฏๅทจๅคง็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Acromegaly"@en, "ใ›ใ‚“ใŸใ‚“ใใ‚‡ใ ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆ็ซฏๅทจๅคง็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019933 ; skos:prefLabel "ๅ…ˆ็ซฏๅทจๅคง็—‡"@ja . -:2100113 - terms:identifier "2100113" ; + + dcterms:identifier "NANDO:2100113" ; a owl:Class ; - rdfs:label "Growth hormone deficiency"@en, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Growth hormone deficiency"@en, "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "GHD"@en, "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; skos:prefLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja . -:2100114 - terms:identifier "2100114" ; + + dcterms:identifier "NANDO:2100114" ; a owl:Class ; - rdfs:label "Growth hormone insensitivity"@en, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Growth hormone insensitivity"@en, "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015892 ; skos:prefLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค"@ja . -:2100115 - terms:identifier "2100115" ; + + dcterms:identifier "NANDO:2100115" ; a owl:Class ; - rdfs:label "Hyperprolactinemia"@en, "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hyperprolactinemia"@en, "ใ“ใ†ใทใ‚ใ‚‰ใใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Hyperprolactinaemia"@en ; + skos:closeMatch obo:MONDO_0005804 ; skos:prefLabel "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡"@ja . -:2100116 - terms:identifier "2100116" ; + + dcterms:identifier "NANDO:2100116" ; a owl:Class ; - rdfs:label "Syndrome of inappropriate secretion of antidiuretic hormone"@en, "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณ๏ผˆADH๏ผ‰ไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณ๏ผˆADH๏ผ‰ไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja . + rdfs:label "Syndrome of inappropriate secretion of antidiuretic hormone"@en, "ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "ADHๅˆ†ๆณŒไบข้€ฒ็—‡"@ja, "SIADH"@en, "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡"@ja ; + skos:closeMatch obo:MONDO_0006802 ; + skos:prefLabel "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja . -:2100117 - terms:identifier "2100117" ; + + dcterms:identifier "NANDO:2100117" ; a owl:Class ; - rdfs:label "Diabetes insipidus"@en, "ๅฐฟๅดฉ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Diabetes insipidus"@en, "ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅฐฟๅดฉ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004782 ; skos:prefLabel "ๅฐฟๅดฉ็—‡"@ja . -:2100118 - terms:identifier "2100118" ; + + dcterms:identifier "NANDO:2100118" ; a owl:Class ; - rdfs:label "Cerebral salt wasting syndrome"@en, "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Cerebral salt wasting syndrome"@en, "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใˆใ‚“ใใ†ใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค"@ja . -:2100119 - terms:identifier "2100119" ; + + dcterms:identifier "NANDO:2100119" ; a owl:Class ; - rdfs:label "hyperthyroidism"@en, "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hyperthyroidism"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004425 ; skos:prefLabel "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja . -:2100120 - terms:identifier "2100120" ; + + dcterms:identifier "NANDO:2100120" ; a owl:Class ; - rdfs:label "Hypothyroidism"@en, "็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Hypothyroidism"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005420 ; skos:prefLabel "็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2100121 - terms:identifier "2100121" ; + + dcterms:identifier "NANDO:2100121" ; a owl:Class ; - rdfs:label "Resistance to thyroid hormone"@en, "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Resistance to thyroid hormone"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "RTH"@en, "Syndrome of Resistance to Thyroid Hormone"@en ; + skos:closeMatch obo:MONDO_0001328, obo:MONDO_0010131 ; skos:prefLabel "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja . -:2100122 - terms:identifier "2100122" ; + + dcterms:identifier "NANDO:2100122" ; a owl:Class ; - rdfs:label "Adenomatous goiter"@en, "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ"@ja ; - rdfs:subClassOf ; + rdfs:label "Adenomatous goiter"@en, "ใ›ใ‚“ใ—ใ‚…ใ‚ˆใ†ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚…"@ja-Hira, "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ"@ja ; + rdfs:subClassOf ; + skos:altLabel "Adenomatous goitre"@en ; skos:prefLabel "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ"@ja . -:2100123 - terms:identifier "2100123" ; + + dcterms:identifier "NANDO:2100123" ; a owl:Class ; - rdfs:label "Hyperparathyroidism"@en, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hyperparathyroidism"@en, "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001741 ; skos:prefLabel "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja . -:2100124 - terms:identifier "2100124" ; + + dcterms:identifier "NANDO:2100124" ; a owl:Class ; - rdfs:label "Hypoparathyroidism"@en, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hypoparathyroidism"@en, "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001220, obo:MONDO_0015895 ; skos:prefLabel "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2100125 - terms:identifier "2100125" ; + + dcterms:identifier "NANDO:2100125" ; a owl:Class ; - rdfs:label "Autoimmune polyendocrinopathy"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Autoimmune polyendocrinopathy"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017278 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค"@ja . -:2100126 - terms:identifier "2100126" ; + + dcterms:identifier "NANDO:2100126" ; a owl:Class ; - rdfs:label "Pseudopseudohypoparathyroidism"@en, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Pseudohypoparathyroidism"@en, "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019992 ; skos:prefLabel "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2100127 - terms:identifier "2100127" ; + + dcterms:identifier "NANDO:2100127" ; a owl:Class ; - rdfs:label "Cushing (Cushing) syndrome"@en, "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ๏ผˆCushing๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ๏ผˆCushing๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Cushing (Cushing) syndrome"@en, "ใใฃใ—ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Cushing's syndrome"@en, "Cushing็—‡ๅ€™็พค"@ja ; + skos:prefLabel "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค"@ja . -:2100128 - terms:identifier "2100128" ; + + dcterms:identifier "NANDO:2100128" ; a owl:Class ; - rdfs:label "Chronic adrenal insufficiency"@en, "ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic adrenal insufficiency"@en, "ใพใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2100129 - terms:identifier "2100129" ; + + dcterms:identifier "NANDO:2100129" ; a owl:Class ; - rdfs:label "Aldosteronism"@en, "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Aldosteronism"@en, "ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja . -:2100130 - terms:identifier "2100130" ; + + dcterms:identifier "NANDO:2100130" ; a owl:Class ; - rdfs:label "Apparent mineralocorticoid excess syndrome"@en, "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค๏ผˆAME็—‡ๅ€™็พค๏ผ‰"@ja ; - rdfs:subClassOf ; - skos:prefLabel "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค๏ผˆAME็—‡ๅ€™็พค๏ผ‰"@ja . + rdfs:label "Apparent mineralocorticoid excess syndrome"@en, "ใฟใ‹ใ‘ใฎใ“ใ†ใ—ใคใ“ใ‚‹ใกใ“ใ„ใฉใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AME syndrome"@en, "AME็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0006657, obo:MONDO_0009025 ; + skos:prefLabel "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค"@ja . -:2100131 - terms:identifier "2100131" ; + + dcterms:identifier "NANDO:2100131" ; a owl:Class ; - rdfs:label "Liddle syndrome"@en, "ใƒชใƒ‰ใƒซ๏ผˆLiddle๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒชใƒ‰ใƒซ๏ผˆLiddle๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Liddle syndrome"@en, "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Liddle็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008323 ; + skos:prefLabel "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค"@ja . -:2100132 - terms:identifier "2100132" ; + + dcterms:identifier "NANDO:2100132" ; a owl:Class ; - rdfs:label "Hypoaldosteronism"@en, "ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Hypoaldosteronism"@en, "ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015900 ; skos:prefLabel "ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja . -:2100133 - terms:identifier "2100133" ; + + dcterms:identifier "NANDO:2100133" ; a owl:Class ; - rdfs:label "Pseudohypoaldosteronism"@en, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Pseudohypoaldosteronism"@en, "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018638 ; skos:prefLabel "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja . -:2100134 - terms:identifier "2100134" ; + + dcterms:identifier "NANDO:2100134" ; a owl:Class ; - rdfs:label "Congenital adrenal hyperplasia"@en, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja ; + rdfs:label "Congenital adrenal hyperplasia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "CAH"@en ; + skos:closeMatch obo:MONDO_0018479 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja . -:2100135 - terms:identifier "2100135" ; + + dcterms:identifier "NANDO:2100135" ; a owl:Class ; - rdfs:label "ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; + rdfs:label "Precocious puberty"@en, "ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000088 ; + skos:prefLabel "ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja . -:2100136 - terms:identifier "2100136" ; + + dcterms:identifier "NANDO:2100136" ; a owl:Class ; - rdfs:label "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰"@ja ; - rdfs:subClassOf . + rdfs:label "Hyperestrogenism (excluding precocious puberty)"@en, "ใˆใ™ใจใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja . -:2100137 - terms:identifier "2100137" ; + + dcterms:identifier "NANDO:2100137" ; a owl:Class ; - rdfs:label "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡๏ผˆๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’้™คใใ€‚๏ผ‰"@ja ; - rdfs:subClassOf . + rdfs:label "Hyperandrogenism (excluding precocious puberty)"@en, "ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja . -:2100138 - terms:identifier "2100138" ; + + dcterms:identifier "NANDO:2100138" ; a owl:Class ; - rdfs:label "Hypogonadotropic hypogonadism"@en, "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hypogonadotropic hypogonadism"@en, "ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018555 ; skos:prefLabel "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2100139 - terms:identifier "2100139" ; + + dcterms:identifier "NANDO:2100139" ; a owl:Class ; - rdfs:label "Hypergonadotropic hypogonadism"@en, "้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Hypergonadotropic hypogonadism"@en, "ใ“ใ†ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005387 ; skos:prefLabel "้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2100140 - terms:identifier "2100140" ; + + dcterms:identifier "NANDO:2100140" ; a owl:Class ; - rdfs:label "Disorders of sex development"@en, "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorders of sex development"@en, "ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002145 ; skos:prefLabel "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja . -:2100141 - terms:identifier "2100141" ; + + dcterms:identifier "NANDO:2100141" ; a owl:Class ; - rdfs:label "ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜"@ja ; - rdfs:subClassOf . + rdfs:label "Gastrointestinal Hormone Producing Tumors"@en, "ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๆถˆๅŒ–็ฎกใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ่…ซ็˜"@ja . -:2100142 - terms:identifier "2100142" ; + + dcterms:identifier "NANDO:2100142" ; a owl:Class ; - rdfs:label "Glucagonoma"@en, "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž"@ja ; - rdfs:subClassOf ; + rdfs:label "Glucagonoma"@en, "ใใ‚‹ใ‹ใ”ใฎใƒผใพ"@ja-Hira, "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019959 ; skos:prefLabel "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž"@ja . -:2100143 - terms:identifier "2100143" ; + + dcterms:identifier "NANDO:2100143" ; a owl:Class ; - rdfs:label "hyperinsulinaemic hypoglycaemia"@en, "้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Hyperinsulinemic hypoglycemia"@en, "ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ›ใ„ใฆใ„ใ‘ใฃใจใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Hyperinsulinaemic hypoglycaemia"@en ; + skos:closeMatch obo:MONDO_0005803, obo:MONDO_0017182 ; skos:prefLabel "้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡"@ja . -:2100144 - terms:identifier "2100144" ; + + dcterms:identifier "NANDO:2100144" ; a owl:Class ; - rdfs:label "Vitamin d-dependent rickets"@en, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Vitamin D-dependent rickets"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024299 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…"@ja . -:2100145 - terms:identifier "2100145" ; + + dcterms:identifier "NANDO:2100145" ; a owl:Class ; - rdfs:label "Vitamin d resistant osteomalacia"@en, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Vitamin D-resistant osteomalacia"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณ๏ผคๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja . -:2100146 - terms:identifier "2100146" ; + + dcterms:identifier "NANDO:2100146" ; a owl:Class ; - rdfs:label "Primary hypophosphataemic rickets"@en, "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Primary hypophosphatemic rickets"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใฆใ„ใ‚Šใ‚“ใ‘ใคใ—ใ‚‡ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Primary hypophosphataemic rickets"@en ; skos:prefLabel "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…"@ja . -:2100147 - terms:identifier "2100147" ; + + dcterms:identifier "NANDO:2100147" ; a owl:Class ; - rdfs:label "Lipodystrophy"@en, "่„‚่‚ช็•ฐๆ „้คŠ็—‡๏ผˆ่„‚่‚ช่Ž็ธฎ็—‡๏ผ‰"@ja ; - rdfs:subClassOf ; - skos:prefLabel "่„‚่‚ช็•ฐๆ „้คŠ็—‡๏ผˆ่„‚่‚ช่Ž็ธฎ็—‡๏ผ‰"@ja . + rdfs:label "Lipodystrophy"@en, "ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "่„‚่‚ช็•ฐๆ „้คŠ็—‡"@ja ; + skos:closeMatch obo:MONDO_0006573 ; + skos:prefLabel "่„‚่‚ช่Ž็ธฎ็—‡"@ja . -:2100148 - terms:identifier "2100148" ; + + dcterms:identifier "NANDO:2100148" ; a owl:Class ; - rdfs:label "Multiple endocrine neoplasia"@en, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜"@ja ; - rdfs:subClassOf ; + rdfs:label "Multiple endocrine neoplasia"@en, "ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜"@ja ; + rdfs:subClassOf ; + skos:altLabel "MEN"@en ; + skos:closeMatch obo:MONDO_0017169 ; skos:prefLabel "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜"@ja . -:2100149 - terms:identifier "2100149" ; + + dcterms:identifier "NANDO:2100149" ; a owl:Class ; - rdfs:label "Polycystic ovary syndrome"@en, "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Polycystic ovary syndrome"@en, "ใŸใฎใ†ใปใ†ใ›ใ„ใ‚‰ใ‚“ใใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008487 ; skos:prefLabel "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค"@ja . -:2100150 - terms:identifier "2100150" ; + + dcterms:identifier "NANDO:2100150" ; a owl:Class ; - rdfs:label "Other endocrine disease"@en, "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Other endocrine disease"@en, "ใชใ„ใถใ‚“ใดใคใ—ใฃใ‹ใ‚“ใ‚’ใจใ‚‚ใชใ†ใใฎใปใ‹ใฎใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ‚’ไผดใ†ใใฎไป–ใฎ็—‡ๅ€™็พค"@ja . -:2100151 - terms:identifier "2100151" ; + + dcterms:identifier "NANDO:2100151" ; a owl:Class ; - rdfs:label "Collagen disease"@en, "่† ๅŽŸ็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Collagen disease"@en, "ใ“ใ†ใ’ใ‚“ใณใ‚‡ใ†"@ja-Hira, "่† ๅŽŸ็—…"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005554 ; skos:prefLabel "่† ๅŽŸ็—…"@ja . -:2100152 - terms:identifier "2100152" ; + + dcterms:identifier "NANDO:2100152" ; a owl:Class ; - rdfs:label "Collagen disease disease"@en, "่† ๅŽŸ็—…็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Collagen disease"@en, "ใ“ใ†ใ’ใ‚“ใณใ‚‡ใ†ใ—ใฃใ‹ใ‚“"@ja-Hira, "่† ๅŽŸ็—…็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005554 ; skos:prefLabel "่† ๅŽŸ็—…็–พๆ‚ฃ"@ja . -:2100153 - terms:identifier "2100153" ; + + dcterms:identifier "NANDO:2100153" ; a owl:Class ; - rdfs:label "่ก€็ฎก็‚Ž็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf . + rdfs:label "vasculitic syndrome"@en, "ใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ก€็ฎก็‚Ž็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + skos:prefLabel "่ก€็ฎก็‚Ž็—‡ๅ€™็พค"@ja . -:2100154 - terms:identifier "2100154" ; + + dcterms:identifier "NANDO:2100154" ; a owl:Class ; - rdfs:label "Relapsing polychondritis"@en, "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Relapsing Polychondritis"@en, "ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“"@ja-Hira, "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019125 ; skos:prefLabel "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja . -:2100155 - terms:identifier "2100155" ; + + dcterms:identifier "NANDO:2100155" ; a owl:Class ; - rdfs:label "Skin and connective tissue disease"@en, "็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; - skos:prefLabel "็šฎ่†š๏ฝฅ็ตๅˆ็ต„็น”็–พๆ‚ฃ"@ja . + rdfs:label "Skin and connective tissue disease"@en, "ใฒใตใƒปใ‘ใคใ”ใ†ใใ—ใใ—ใฃใ‹ใ‚“"@ja-Hira, "็šฎ่†šใƒป็ตๅˆ็ต„็น”็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็šฎ่†šใƒป็ตๅˆ็ต„็น”็–พๆ‚ฃ"@ja . -:2100156 - terms:identifier "2100156" ; + + dcterms:identifier "NANDO:2100156" ; a owl:Class ; - rdfs:label "autoinflammatory disease"@en, "่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Autoinflammatory disease"@en, "ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019751 ; skos:prefLabel "่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ"@ja . -:2100157 - terms:identifier "2100157" ; + + dcterms:identifier "NANDO:2100157" ; a owl:Class ; - rdfs:label "Diabetes"@en, "็ณ–ๅฐฟ็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Diabetes"@en, "ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "็ณ–ๅฐฟ็—…"@ja ; + rdfs:subClassOf ; + skos:altLabel "Diabetes mellitus"@en ; + skos:closeMatch obo:MONDO_0005015 ; skos:prefLabel "็ณ–ๅฐฟ็—…"@ja . -:2100158 - terms:identifier "2100158" ; + + dcterms:identifier "NANDO:2100158" ; a owl:Class ; - rdfs:label "Diabetes"@en, "็ณ–ๅฐฟ็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Diabetes"@en, "ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "็ณ–ๅฐฟ็—…"@ja ; + rdfs:subClassOf ; + skos:altLabel "Diabetes mellitus"@en ; + skos:closeMatch obo:MONDO_0005015 ; skos:prefLabel "็ณ–ๅฐฟ็—…"@ja . -:2100159 - terms:identifier "2100159" ; + + dcterms:identifier "NANDO:2100159" ; a owl:Class ; - rdfs:label "Inborn errors of metabolism"@en, "ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ"@ja ; - rdfs:subClassOf ; + rdfs:label "Inborn errors of metabolism"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019052 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธ"@ja . -:2100160 - terms:identifier "2100160" ; + + dcterms:identifier "NANDO:2100160" ; a owl:Class ; - rdfs:label "Disorder of amino acid metabolism"@en, "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of amino acid metabolism"@en, "ใ‚ใฟใฎใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0037871 ; skos:prefLabel "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100161 - terms:identifier "2100161" ; + + dcterms:identifier "NANDO:2100161" ; a owl:Class ; - rdfs:label "Disorder of organic acid metabolism"@en, "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of organic acid metabolism"@en, "ใ‚†ใ†ใใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0045022 ; skos:prefLabel "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100162 - terms:identifier "2100162" ; + + dcterms:identifier "NANDO:2100162" ; a owl:Class ; - rdfs:label "Disorder of fatty-acid metabolism"@en, "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of fatty-acid metabolism"@en, "ใ—ใผใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0037858 ; skos:prefLabel "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100163 - terms:identifier "2100163" ; + + dcterms:identifier "NANDO:2100163" ; a owl:Class ; - rdfs:label "Mitochondrial disease"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Mitochondrial diseases"@en, "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†"@ja-Hira, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja ; + rdfs:subClassOf ; + skos:altLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡"@ja ; + skos:closeMatch obo:MONDO_0004069, obo:MONDO_0044970 ; skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja . -:2100164 - terms:identifier "2100164" ; + + dcterms:identifier "NANDO:2100164" ; a owl:Class ; - rdfs:label "Disorder of carbohydrate metabolism"@en, "็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of carbohydrate metabolism"@en, "ใจใ†ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019214, obo:MONDO_0037792 ; skos:prefLabel "็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100165 - terms:identifier "2100165" ; + + dcterms:identifier "NANDO:2100165" ; a owl:Class ; - rdfs:label "Lysosomal disease"@en, "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Lysosomal storage disease"@en, "ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ†"@ja-Hira, "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002561 ; skos:prefLabel "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja . -:2100166 - terms:identifier "2100166" ; + + dcterms:identifier "NANDO:2100166" ; a owl:Class ; - rdfs:label "Peroxisomal disease"@en, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Peroxisomal disorder"@en, "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ†"@ja-Hira, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja ; + rdfs:subClassOf ; + skos:altLabel "Peroxisomal disease"@en ; + skos:closeMatch obo:MONDO_0019053 ; skos:prefLabel "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja . -:2100167 - terms:identifier "2100167" ; + + dcterms:identifier "NANDO:2100167" ; a owl:Class ; - rdfs:label "Disorder of metal metabolism"@en, "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of metal metabolism"@en, "ใใ‚“ใžใใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100168 - terms:identifier "2100168" ; + + dcterms:identifier "NANDO:2100168" ; a owl:Class ; - rdfs:label "Disorder of purine and pyrimidine metabolism"@en, "ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of purine and pyrimidine metabolism"@en, "ใทใ‚Šใ‚“ใดใ‚Šใฟใ˜ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100169 - terms:identifier "2100169" ; + + dcterms:identifier "NANDO:2100169" ; a owl:Class ; - rdfs:label "Disorder of vitamin metabolism"@en, "ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of vitamin metabolism"@en, "ใณใŸใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100170 - terms:identifier "2100170" ; + + dcterms:identifier "NANDO:2100170" ; a owl:Class ; - rdfs:label "Disorder of neurotransmitter metabolism and transport"@en, "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of neurotransmitter metabolism and transport"@en, "ใ—ใ‚“ใ‘ใ„ใงใ‚“ใŸใคใถใฃใ—ใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡"@ja . -:2100171 - terms:identifier "2100171" ; + + dcterms:identifier "NANDO:2100171" ; a owl:Class ; - rdfs:label "Disorder of lipid metabolism"@en, "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Disorder of lipid metabolism"@en, "ใ—ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2100172 - terms:identifier "2100172" ; + + dcterms:identifier "NANDO:2100172" ; a owl:Class ; - rdfs:label "Connective tissue disorder"@en, "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Connective tissue disorder"@en, "ใ‘ใคใ”ใ†ใใ—ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003900 ; skos:prefLabel "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡"@ja . -:2100173 - terms:identifier "2100173" ; + + dcterms:identifier "NANDO:2100173" ; a owl:Class ; - rdfs:label "porphyria"@en, "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Porphyria"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "congenital Porphyria"@en ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:2100174 - terms:identifier "2100174" ; + + dcterms:identifier "NANDO:2100174" ; a owl:Class ; - rdfs:label "Alpha-1-antitrypsin deficiency"@en, "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Alpha-1-antitrypsin deficiency"@en, "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja, "ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AATD"@en, "ฮฑ-1-antitrypsin deficiency"@en ; + skos:closeMatch obo:MONDO_0013282 ; skos:prefLabel "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja . -:2100175 - terms:identifier "2100175" ; + + dcterms:identifier "NANDO:2100175" ; a owl:Class ; - rdfs:label "Blood disease"@en, "่ก€ๆถฒ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Blood disease"@en, "ใ‘ใคใˆใใ—ใฃใ‹ใ‚“"@ja-Hira, "่ก€ๆถฒ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005570 ; skos:prefLabel "่ก€ๆถฒ็–พๆ‚ฃ"@ja . -:2100176 - terms:identifier "2100176" ; + + dcterms:identifier "NANDO:2100176" ; a owl:Class ; - rdfs:label "Megaloblastic anemia"@en, "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; - rdfs:subClassOf ; + rdfs:label "Megaloblastic anemia"@en, "ใใ‚‡ใ›ใใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Megaloblastic anaemia"@en ; + skos:closeMatch obo:MONDO_0001700 ; skos:prefLabel "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€"@ja . -:2100177 - terms:identifier "2100177" ; + + dcterms:identifier "NANDO:2100177" ; a owl:Class ; - rdfs:label "pure red cell aplasia"@en, "่ตค่Šฝ็ƒ็™†"@ja ; - rdfs:subClassOf ; + rdfs:label "Pure red cell aplasia"@en, "ใ›ใใŒใใ‚…ใ†ใ‚ใ†"@ja-Hira, "่ตค่Šฝ็ƒ็™†"@ja ; + rdfs:subClassOf ; + skos:altLabel "PRCA"@en ; + skos:closeMatch obo:MONDO_0001705 ; skos:prefLabel "่ตค่Šฝ็ƒ็™†"@ja . -:2100178 - terms:identifier "2100178" ; + + dcterms:identifier "NANDO:2100178" ; a owl:Class ; - rdfs:label "Congenital red blood cell dysplasia anemia"@en, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Congenital dyserythropoietic anemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CDA"@en, "Congenital dyserythropoietic anaemia"@en ; + skos:closeMatch obo:MONDO_0019403 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja . -:2100179 - terms:identifier "2100179" ; + + dcterms:identifier "NANDO:2100179" ; a owl:Class ; - rdfs:label "Sideroblastic anemia"@en, "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; - rdfs:subClassOf ; + rdfs:label "Sideroblastic anemia"@en, "ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Sideroblastic anaemia"@en ; + skos:closeMatch obo:MONDO_0015194 ; skos:prefLabel "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja . -:2100180 - terms:identifier "2100180" ; + + dcterms:identifier "NANDO:2100180" ; a owl:Class ; - rdfs:label "Atransferrinemia"@en, "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Congenital atransferrinemia"@en, "ใ‚€ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital atransferrinaemia"@en ; + skos:closeMatch obo:MONDO_0008846 ; skos:prefLabel "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡"@ja . -:2100181 - terms:identifier "2100181" ; + + dcterms:identifier "NANDO:2100181" ; a owl:Class ; - rdfs:label "Autoimmune hemolytic anemia"@en, "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Autoimmune hemolytic anemia"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AIHA"@en, "Autoimmune haemolytic anaemia"@en ; + skos:closeMatch obo:MONDO_0020108 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:2100182 - terms:identifier "2100182" ; + + dcterms:identifier "NANDO:2100182" ; a owl:Class ; - rdfs:label "Paroxysmal nocturnal hemoglobinuria"@en, "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Paroxysmal nocturnal haemoglobinuria"@en, "ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "PNH"@en, "Paroxysmal nocturnal haemoglobinuria"@en ; + skos:closeMatch obo:MONDO_0018641 ; skos:prefLabel "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . -:2100183 - terms:identifier "2100183" ; + + dcterms:identifier "NANDO:2100183" ; a owl:Class ; - rdfs:label "Hereditary hemolytic anemia"@en, "้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; - rdfs:subClassOf ; + rdfs:label "Hereditary hemolytic anemia"@en, "ใ„ใงใ‚“ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:subClassOf ; + skos:altLabel "Hereditary haemolytic anaemia"@en ; + skos:closeMatch obo:MONDO_0003689 ; skos:prefLabel "้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:2100184 - terms:identifier "2100184" ; + + dcterms:identifier "NANDO:2100184" ; a owl:Class ; - rdfs:label "haemolytic anaemia due to hypersplenism"@en, "ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Hemolytic anemia due to hypersplenism"@en, "ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค๏ผˆใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Haemolytic anaemia due to hypersplenism"@en ; skos:prefLabel "ๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2100185 - terms:identifier "2100185" ; + + dcterms:identifier "NANDO:2100185" ; a owl:Class ; - rdfs:label "microangiopathic haemolytic anaemia"@en, "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; - rdfs:subClassOf ; + rdfs:label "Microangiopathic hemolytic anemia"@en, "ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "MAHA"@en, "Microangiopathic haemolytic anaemia"@en ; skos:prefLabel "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:2100186 - terms:identifier "2100186" ; + + dcterms:identifier "NANDO:2100186" ; a owl:Class ; - rdfs:label "Polycythemia vera"@en, "็œŸๆ€งๅคš่ก€็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Polycythemia vera"@en, "ใ—ใ‚“ใ›ใ„ใŸใ‘ใคใ—ใ‚‡ใ†"@ja-Hira, "็œŸๆ€งๅคš่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PV"@en, "Polycythaemia vera"@en ; + skos:closeMatch obo:MONDO_0009891 ; skos:prefLabel "็œŸๆ€งๅคš่ก€็—‡"@ja . -:2100187 - terms:identifier "2100187" ; + + dcterms:identifier "NANDO:2100187" ; a owl:Class ; - rdfs:label "Familial vera"@en, "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Familial polycythemia"@en, "ใ‹ใžใใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Familial polycythaemia"@en ; + skos:closeMatch obo:MONDO_0001115 ; skos:prefLabel "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡"@ja . -:2100188 - terms:identifier "2100188" ; + + dcterms:identifier "NANDO:2100188" ; a owl:Class ; - rdfs:label "Thrombocytopenic purpura"@en, "่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Thrombocytopenic purpura"@en, "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0043768 ; skos:prefLabel "่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:2100189 - terms:identifier "2100189" ; + + dcterms:identifier "NANDO:2100189" ; a owl:Class ; - rdfs:label "Thrombotic thrombocytopenic purpura"@en, "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Thrombotic thrombocytopenic purpura"@en, "ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "TTP"@en ; + skos:closeMatch obo:MONDO_0018896 ; skos:prefLabel "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:2100190 - terms:identifier "2100190" ; + + dcterms:identifier "NANDO:2100190" ; a owl:Class ; - rdfs:label "Thrombocytopenia (limited to those caused by hypersplenism.)"@en, "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Thrombocytopenia (limited to those caused by hypersplenism.)"@en, "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2100191 - terms:identifier "2100191" ; + + dcterms:identifier "NANDO:2100191" ; a owl:Class ; - rdfs:label "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf . + rdfs:label " Congenital bone marrow failure syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค"@ja . -:2100192 - terms:identifier "2100192" ; + + dcterms:identifier "NANDO:2100192" ; a owl:Class ; - rdfs:label "cyclic thrombocytopenia"@en, "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Cyclic thrombocytopenia"@en, "ใ—ใ‚…ใ†ใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008556 ; skos:prefLabel "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2100193 - terms:identifier "2100193" ; + + dcterms:identifier "NANDO:2100193" ; a owl:Class ; - rdfs:label "Mayโ€Hegglin anomaly"@en, "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธ็—‡"@ja . + rdfs:label "May-Hegglin anomaly"@en, "ใ‚ใ„ใƒปใธใใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "May-Hegglin็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0007954 ; + skos:prefLabel "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡"@ja . -:2100194 - terms:identifier "2100194" ; + + dcterms:identifier "NANDO:2100194" ; a owl:Class ; - rdfs:label "essential thrombocythaemia"@en, "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Essential thrombocythemia"@en, "ใปใ‚“ใŸใ„ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "ET"@en, "Essential thrombocythaemia"@en ; + skos:closeMatch obo:MONDO_0005029 ; skos:prefLabel "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡"@ja . -:2100195 - terms:identifier "2100195" ; + + dcterms:identifier "NANDO:2100195" ; a owl:Class ; - rdfs:label "platelet dysfunction"@en, "่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Platelet dysfunction"@en, "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใใฎใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡"@ja . -:2100196 - terms:identifier "2100196" ; + + dcterms:identifier "NANDO:2100196" ; a owl:Class ; - rdfs:label "Inherited bleeding disorder"@en, "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ"@ja ; - rdfs:subClassOf ; + rdfs:label "Inherited bleeding disorder "@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใคใˆใใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ„ใ˜ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ"@ja . -:2100197 - terms:identifier "2100197" ; + + dcterms:identifier "NANDO:2100197" ; a owl:Class ; - rdfs:label "protein C deficiency"@en, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Protein C deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใ—ใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Congenital protein C deficiency"@en, "Heritable thrombophilia"@en ; + skos:closeMatch obo:MONDO_0019145 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡"@ja . -:2100198 - terms:identifier "2100198" ; + + dcterms:identifier "NANDO:2100198" ; a owl:Class ; - rdfs:label "protein S deficiency"@en, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Protein S deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใˆใ™ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Heritable thrombophilia"@en ; + skos:closeMatch obo:MONDO_0002304 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja . -:2100199 - terms:identifier "2100199" ; + + dcterms:identifier "NANDO:2100199" ; a owl:Class ; - rdfs:label "antithrombin deficiency"@en, "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Antithrombin deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใกใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Heritable thrombophilia"@en ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja . -:2100200 - terms:identifier "2100200" ; + + dcterms:identifier "NANDO:2100200" ; a owl:Class ; - rdfs:label "Myelofibrosis"@en, "้ชจ้ซ„็ทš็ถญ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Myelofibrosis"@en, "ใ“ใคใšใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "้ชจ้ซ„็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "MF"@en ; + skos:closeMatch obo:MONDO_0044903 ; skos:prefLabel "้ชจ้ซ„็ทš็ถญ็—‡"@ja . -:2100201 - terms:identifier "2100201" ; + + dcterms:identifier "NANDO:2100201" ; a owl:Class ; - rdfs:label "Aplastic anemia"@en, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Aplastic anemia"@en, "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0015909 ; skos:prefLabel "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . -:2100202 - terms:identifier "2100202" ; + + dcterms:identifier "NANDO:2100202" ; a owl:Class ; - rdfs:label "Immune system disease"@en, "ๅ…็–ซ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Immune system disease"@en, "ใ‚ใ‚“ใˆใใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ…็–ซ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005046 ; skos:prefLabel "ๅ…็–ซ็–พๆ‚ฃ"@ja . -:2100203 - terms:identifier "2100203" ; + + dcterms:identifier "NANDO:2100203" ; a owl:Class ; - rdfs:label "Combined immunodeficiency"@en, "่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja ; + rdfs:label "Combined immunodeficiency"@en, "ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015131, obo:MONDO_0018035 ; skos:prefLabel "่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja . -:2100204 - terms:identifier "2100204" ; + + dcterms:identifier "NANDO:2100204" ; a owl:Class ; - rdfs:label "immunodeficiency"@en, "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Immunodeficiency"@en, "ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใจใใกใ‚‡ใ†ใฆใใชใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003778, obo:MONDO_0021094 ; skos:prefLabel "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็‰นๅพด็š„ใช็—‡ๅ€™็พค"@ja . -:2100205 - terms:identifier "2100205" ; + + dcterms:identifier "NANDO:2100205" ; a owl:Class ; - rdfs:label "predominantly antibody deficiency"@en, "ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Predominantly antibody deficiency"@en, "ใˆใใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใ—ใ‚…ใจใ™ใ‚‹ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ"@ja . -:2100206 - terms:identifier "2100206" ; + + dcterms:identifier "NANDO:2100206" ; a owl:Class ; - rdfs:label "disease of immune dysregulation"@en, "ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ"@ja ; - rdfs:subClassOf ; + rdfs:label "Disease of immune dysregulation"@en, "ใ‚ใ‚“ใˆใใกใ‚‡ใ†ใ›ใคใ—ใ‚‡ใ†ใŒใ„"@ja-Hira, "ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ"@ja . -:2100207 - terms:identifier "2100207" ; + + dcterms:identifier "NANDO:2100207" ; a owl:Class ; - rdfs:label "ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf . + rdfs:label "Primary phagocyte dysfunction and phagocyte deficiency"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ—ใ‚‡ใใ•ใ„ใผใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใŠใ‚ˆใณใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๅŽŸ็™บๆ€ง้ฃŸ็ดฐ่ƒžๆฉŸ่ƒฝไธๅ…จ็—‡ใŠใ‚ˆใณๆฌ ๆ็—‡"@ja . -:2100208 - terms:identifier "2100208" ; + + dcterms:identifier "NANDO:2100208" ; a owl:Class ; - rdfs:label "defect in innate immunity"@en, "่‡ช็„ถๅ…็–ซ็•ฐๅธธ"@ja ; - rdfs:subClassOf ; + rdfs:label "Defect in innate immunity"@en, "ใ—ใœใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†"@ja-Hira, "่‡ช็„ถๅ…็–ซ็•ฐๅธธ"@ja ; + rdfs:subClassOf ; skos:prefLabel "่‡ช็„ถๅ…็–ซ็•ฐๅธธ"@ja . -:2100209 - terms:identifier "2100209" ; + + dcterms:identifier "NANDO:2100209" ; a owl:Class ; - rdfs:label "inherited deficiency of complement system"@en, "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Inherited deficiency of complement system"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja . -:2100210 - terms:identifier "2100210" ; + + dcterms:identifier "NANDO:2100210" ; a owl:Class ; - rdfs:label "hyper eosinophilic syndrome"@en, "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Hyper eosinophilic syndrome"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "HES"@en ; skos:prefLabel "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja . -:2100211 - terms:identifier "2100211" ; + + dcterms:identifier "NANDO:2100211" ; a owl:Class ; - rdfs:label "Chronic active EB virus infection"@en, "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic active EB virus infection"@en, "ใพใ‚“ใ›ใ„ใ‹ใคใฉใ†ใ›ใ„ใ„ใƒผใณใƒผใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CAEBV"@en ; skos:prefLabel "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja . -:2100212 - terms:identifier "2100212" ; + + dcterms:identifier "NANDO:2100212" ; a owl:Class ; - rdfs:label "Acquired immune deficiency syndrome"@en, "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Acquired immune deficiency syndrome"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡"@ja ; + rdfs:subClassOf ; + skos:altLabel "AIDS"@en, "Aquired immunodeficiency"@en ; + skos:closeMatch obo:MONDO_0012268 ; skos:prefLabel "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡"@ja . -:2100213 - terms:identifier "2100213" ; + + dcterms:identifier "NANDO:2100213" ; a owl:Class ; - rdfs:label "chronic graft-versus-host disease"@en, "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic graft-versus-host disease"@en, "ใพใ‚“ใ›ใ„ใ„ใ—ใ‚‡ใใธใ‚“ใŸใ„ใ—ใ‚…ใใ—ใ‚…ใณใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Chronic GVHD"@en ; + skos:closeMatch obo:MONDO_0020547 ; skos:prefLabel "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…"@ja . -:2100214 - terms:identifier "2100214" ; + + dcterms:identifier "NANDO:2100214" ; a owl:Class ; - rdfs:label "Neuromuscular disease"@en, "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Neuromuscular disease"@en, "ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019056 ; skos:prefLabel "็ฅž็ตŒใƒป็ญ‹็–พๆ‚ฃ"@ja . -:2100215 - terms:identifier "2100215" ; + + dcterms:identifier "NANDO:2100215" ; a owl:Class ; - rdfs:label "myelomeningocele"@en, "่„Š้ซ„้ซ„่†œ็˜ค"@ja ; - rdfs:subClassOf ; + rdfs:label "Myelomeningocele"@en, "ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ†"@ja-Hira, "่„Š้ซ„้ซ„่†œ็˜ค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017069, obo:MONDO_0019773 ; skos:prefLabel "่„Š้ซ„้ซ„่†œ็˜ค"@ja . -:2100216 - terms:identifier "2100216" ; + + dcterms:identifier "NANDO:2100216" ; a owl:Class ; - rdfs:label "Sacrococcygeal teratoma"@en, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ"@ja ; - rdfs:subClassOf ; + rdfs:label "Sacrococcygeal teratoma"@en, "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…"@ja-Hira, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0042727 ; skos:prefLabel "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ"@ja . -:2100217 - terms:identifier "2100217" ; + + dcterms:identifier "NANDO:2100217" ; a owl:Class ; - rdfs:label "่„ณๅฝขๆˆ้šœๅฎณ"@ja ; - rdfs:subClassOf . + rdfs:label "Brain malformation"@en, "ใฎใ†ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใŒใ„"@ja-Hira, "่„ณๅฝขๆˆ้šœๅฎณ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016054 ; + skos:prefLabel "่„ณๅฝขๆˆ้šœๅฎณ"@ja . -:2100218 - terms:identifier "2100218" ; + + dcterms:identifier "NANDO:2100218" ; a owl:Class ; - rdfs:label "Joubert syndrome related disorders"@en, "ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja . + rdfs:label "Joubert syndrome related disorders"@en, "ใ˜ใ‚…ในใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; + skos:closeMatch obo:MONDO_0015369 ; + skos:prefLabel "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja . -:2100219 - terms:identifier "2100219" ; + + dcterms:identifier "NANDO:2100219" ; a owl:Class ; - rdfs:label "Rett syndrome"@en, "ใƒฌใƒƒใƒˆ๏ผˆRett๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒฌใƒƒใƒˆ๏ผˆRett๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Rett syndrome"@en, "ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Rett็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010726 ; + skos:prefLabel "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja . -:2100220 - terms:identifier "2100220" ; + + dcterms:identifier "NANDO:2100220" ; a owl:Class ; - rdfs:label "็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf . + rdfs:label "Neurocutaneous syndrome"@en, "ใ—ใ‚“ใ‘ใ„ใฒใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0042983 ; + skos:prefLabel "็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พค"@ja . -:2100221 - terms:identifier "2100221" ; + + dcterms:identifier "NANDO:2100221" ; a owl:Class ; - rdfs:label "ๆ—ฉ่€็—‡"@ja ; - rdfs:subClassOf . + rdfs:label "Progeroid syndromes"@en, "ใใ†ใ‚ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆ—ฉ่€็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015333 ; + skos:prefLabel "ๆ—ฉ่€็—‡"@ja . -:2100222 - terms:identifier "2100222" ; + + dcterms:identifier "NANDO:2100222" ; a owl:Class ; - rdfs:label "Leukoencephalopathy caused by genetic abnormalities"@en, "้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Leukoencephalopathy caused by genetic abnormalities"@en, "ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใซใ‚ˆใ‚‹ใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:subClassOf ; skos:prefLabel "้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็™ฝ่ณช่„ณ็—‡"@ja . -:2100223 - terms:identifier "2100223" ; + + dcterms:identifier "NANDO:2100223" ; a owl:Class ; - rdfs:label "ATR-X syndrome"@en, "ATR-X็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "ATR-X syndrome"@en, "ATR-X็—‡ๅ€™็พค"@ja, "ใˆใƒผใฆใƒใƒผใƒผใ‚‹ใˆใฃใใ™ใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "X-linked a-thalassemia/intellectual disability syndrome"@en, "X้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010519 ; skos:prefLabel "ATR-X็—‡ๅ€™็พค"@ja . -:2100224 - terms:identifier "2100224" ; + + dcterms:identifier "NANDO:2100224" ; a owl:Class ; - rdfs:label "Fragile X syndrome"@en, "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Fragile X syndrome"@en, "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010383 ; skos:prefLabel "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค"@ja . -:2100225 - terms:identifier "2100225" ; + + dcterms:identifier "NANDO:2100225" ; a owl:Class ; - rdfs:label "Inherited GPI deficiency"@en, "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซ๏ผˆGPI๏ผ‰ๆฌ ๆ็—‡"@ja . + rdfs:label "Inherited glycosylphosphatidylinositol deficiency"@en, "obsolete ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡"@ja, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚Šใ“ใ—ใ‚‹ใปใ™ใตใใกใ˜ใ‚‹ใ„ใฎใ—ใจใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:subClassOf ; + rdfs:subClassof ; + owl:deprecated true ; + skos:altLabel "IGD"@en, "ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ"@ja ; + skos:prefLabel "obsolete ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡"@ja . -:2100226 - terms:identifier "2100226" ; + + dcterms:identifier "NANDO:2100226" ; a owl:Class ; - rdfs:label "Cerebral creatine deficiency syndrome"@en, "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Cerebral creatine deficiency syndromes"@en, "ใฎใ†ใใ‚Œใ‚ใกใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CCDSs"@en ; + skos:closeMatch obo:MONDO_0000456 ; skos:prefLabel "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja . -:2100227 - terms:identifier "2100227" ; + + dcterms:identifier "NANDO:2100227" ; a owl:Class ; - rdfs:label "craniosynostosis"@en, "้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Craniosynostosis"@en, "ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015469 ; skos:prefLabel "้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja . -:2100228 - terms:identifier "2100228" ; + + dcterms:identifier "NANDO:2100228" ; a owl:Class ; - rdfs:label "Moyamoya Disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†"@ja-Hira, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡"@ja ; + skos:closeMatch obo:MONDO_0016820 ; skos:prefLabel "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja . -:2100229 - terms:identifier "2100229" ; + + dcterms:identifier "NANDO:2100229" ; a owl:Class ; - rdfs:label "Cerebral arteriovenous malformation"@en, "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja ; - rdfs:subClassOf ; + rdfs:label "Cerebral arteriovenous malformation"@en, "ใฎใ†ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„"@ja-Hira, "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Cerebral AVM"@en ; + skos:closeMatch obo:MONDO_0007154 ; skos:prefLabel "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja . -:2100230 - terms:identifier "2100230" ; + + dcterms:identifier "NANDO:2100230" ; a owl:Class ; - rdfs:label "Cavernous angioma of the brain and spinal cord"@en, "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Cavernous angioma of the brain and spinal cord"@en, "ใ‹ใ„ใ‚ใ‚“ใ˜ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚…๏ผˆใฎใ†ใ›ใใšใ„๏ผ‰"@ja-Hira, "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰"@ja . -:2100231 - terms:identifier "2100231" ; + + dcterms:identifier "NANDO:2100231" ; a owl:Class ; - rdfs:label "spinal muscular atrophy"@en, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Spinal muscular atrophy"@en, "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "SMA"@en ; + skos:closeMatch obo:MONDO_0001516, obo:MONDO_0019079 ; skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja . -:2100232 - terms:identifier "2100232" ; + + dcterms:identifier "NANDO:2100232" ; a owl:Class ; - rdfs:label "ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; - rdfs:subClassOf . + rdfs:label "Congenital neuropathy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja . -:2100233 - terms:identifier "2100233" ; + + dcterms:identifier "NANDO:2100233" ; a owl:Class ; - rdfs:label "Muscular dystrophy"@en, "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:subClassOf ; + rdfs:label "Muscular dystrophy"@en, "ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020121 ; skos:prefLabel "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2100234 - terms:identifier "2100234" ; + + dcterms:identifier "NANDO:2100234" ; a owl:Class ; - rdfs:label "congenital structural myopathy"@en, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Congenital myopathy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019952 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:2100235 - terms:identifier "2100235" ; + + dcterms:identifier "NANDO:2100235" ; a owl:Class ; - rdfs:label "Schwartz-Jampel syndrome"@en, "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Schwartz-Jampel syndrome"@en, "ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SJS"@en, "Schwartz-Jampel็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009717 ; + skos:prefLabel "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja . -:2100236 - terms:identifier "2100236" ; + + dcterms:identifier "NANDO:2100236" ; a owl:Class ; - rdfs:label "้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡"@ja ; - rdfs:subClassOf . + rdfs:label "Refractory epileptic encephalopathy"@en, "ใชใ‚“ใ˜ใฆใ‚“ใ‹ใ‚“ใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡"@ja ; + rdfs:subClassOf ; + skos:prefLabel "้›ฃๆฒปใฆใ‚“ใ‹ใ‚“่„ณ็—‡"@ja . -:2100237 - terms:identifier "2100237" ; + + dcterms:identifier "NANDO:2100237" ; a owl:Class ; - rdfs:label "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:label "Progressive myoclonus epilepsy"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:subClassOf ; + skos:altLabel "PME"@en ; + skos:closeMatch obo:MONDO_0020074 ; + skos:prefLabel "้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“"@ja . -:2100238 - terms:identifier "2100238" ; + + dcterms:identifier "NANDO:2100238" ; a owl:Class ; - rdfs:label "Spinocerebellar degeneration"@en, "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Spinocerebellar degeneration"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "SCD"@en ; + skos:closeMatch obo:MONDO_0000437 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja . -:2100239 - terms:identifier "2100239" ; + + dcterms:identifier "NANDO:2100239" ; a owl:Class ; - rdfs:label "alternating hemiplegia of childhood"@en, "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Alternating hemiplegia of childhood"@en, "ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ"@ja-Hira, "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "AHC"@en ; + skos:closeMatch obo:MONDO_0016241 ; skos:prefLabel "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja . -:2100240 - terms:identifier "2100240" ; + + dcterms:identifier "NANDO:2100240" ; a owl:Class ; - rdfs:label "dystonia musculorum deformans"@en, "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ"@ja ; - rdfs:subClassOf ; + rdfs:label "Dystonia musculorum deformans"@en, "ใธใ‚“ใ‘ใ„ใ›ใ„ใใ‚“ใ˜ใ™ใจใซใƒผ"@ja-Hira, "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007492 ; skos:prefLabel "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ"@ja . -:2100241 - terms:identifier "2100241" ; + + dcterms:identifier "NANDO:2100241" ; a owl:Class ; - rdfs:label "่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ"@ja ; + rdfs:label "Neurodegeneration with brain iron accumulation"@en, "ใฎใ†ใฎใฆใคใกใ‚“ใกใ‚ƒใใ‚’ใจใ‚‚ใชใ†ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:altLabel "NBIA"@en ; + skos:closeMatch obo:MONDO_0018307 ; + skos:prefLabel "่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ"@ja . -:2100242 - terms:identifier "2100242" ; + + dcterms:identifier "NANDO:2100242" ; a owl:Class ; - rdfs:label "infantile bilateral striatal necrosis"@en, "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป"@ja ; - rdfs:subClassOf ; + rdfs:label "Infantile bilateral striatal necrosis"@en, "ใซใ‚…ใ†ใ˜ใ‚Šใ‚‡ใ†ใใใ›ใ‚“ใ˜ใ‚‡ใ†ใŸใ„ใˆใ—"@ja-Hira, "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IBSN"@en ; + skos:closeMatch obo:MONDO_0015518 ; skos:prefLabel "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป"@ja . -:2100243 - terms:identifier "2100243" ; + + dcterms:identifier "NANDO:2100243" ; a owl:Class ; - rdfs:label "ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡"@ja ; - rdfs:subClassOf . + rdfs:label "congenital infections"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡"@ja ; + rdfs:subClassOf ; + skos:prefLabel "ๅ…ˆๅคฉๆ€งๆ„ŸๆŸ“็—‡"@ja . -:2100244 - terms:identifier "2100244" ; + + dcterms:identifier "NANDO:2100244" ; a owl:Class ; - rdfs:label "Aicardi-Goutieres syndrome"@en, "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ๏ผˆAicardi-Goutieres๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ๏ผˆAicardi-Goutieres๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Aicardi-Goutiรจres Syndrome"@en, "ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "AGS"@en, "Aicardi-Goutieres็—‡ๅ€™็พค"@ja, "Aicardi-Goutiรจres็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018866 ; + skos:prefLabel "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja . -:2100245 - terms:identifier "2100245" ; + + dcterms:identifier "NANDO:2100245" ; a owl:Class ; - rdfs:label "subacute sclerosing panencephalitis"@en, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Subacute sclerosing panencephalitis"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SSPE"@en ; + skos:closeMatch obo:MONDO_0009835 ; skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja . -:2100246 - terms:identifier "2100246" ; + + dcterms:identifier "NANDO:2100246" ; a owl:Class ; - rdfs:label "Rasmussen encephalitis"@en, "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผˆRasmussen๏ผ‰่„ณ็‚Ž"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผˆRasmussen๏ผ‰่„ณ็‚Ž"@ja . + rdfs:label "Rasmussen's encephalitis"@en, "ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Rasmussen encephalitis"@en, "Rasmussen่„ณ็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0016019 ; + skos:prefLabel "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja . -:2100247 - terms:identifier "2100247" ; + + dcterms:identifier "NANDO:2100247" ; a owl:Class ; - rdfs:label "Acute encephalopathy with biphasic seizures and late reduced diffusion"@en, "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Acute encephalopathy with biphasic seizures and late reduced diffusion"@en, "ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡"@ja ; + rdfs:subClassOf ; + skos:altLabel "AESD"@en ; + skos:closeMatch obo:MONDO_0018198 ; skos:prefLabel "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡"@ja . -:2100248 - terms:identifier "2100248" ; + + dcterms:identifier "NANDO:2100248" ; a owl:Class ; - rdfs:label "Autoimmune encephalitis"@en, "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Autoimmune encephalitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ‹ใ„ใ–ใ„ใ›ใ„ใฎใ†ใˆใ‚“ใƒปใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020640 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡"@ja . -:2100249 - terms:identifier "2100249" ; + + dcterms:identifier "NANDO:2100249" ; a owl:Class ; - rdfs:label "acute encephalitis with refractory, repetitive partial seizures"@en, "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Acute encephalitis with refractory, repetitive partial seizures"@en, "ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“"@ja-Hira, "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "AERRPS"@en ; + skos:closeMatch obo:MONDO_0015584 ; skos:prefLabel "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja . -:2100250 - terms:identifier "2100250" ; + + dcterms:identifier "NANDO:2100250" ; a owl:Class ; - rdfs:label "multiple sclerosis"@en, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Multiple sclerosis"@en, "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "MS"@en ; + skos:closeMatch obo:MONDO_0005301 ; skos:prefLabel "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . -:2100251 - terms:identifier "2100251" ; + + dcterms:identifier "NANDO:2100251" ; a owl:Class ; - rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en, "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CIDP"@en ; + skos:closeMatch obo:MONDO_0002335, obo:MONDO_0006702, obo:MONDO_0007691 ; skos:prefLabel "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja . -:2100252 - terms:identifier "2100252" ; + + dcterms:identifier "NANDO:2100252" ; a owl:Class ; - rdfs:label "myasthenia gravis"@en, "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Myasthenia gravis"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MG"@en ; + skos:closeMatch obo:MONDO_0009688 ; skos:prefLabel "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja . -:2100253 - terms:identifier "2100253" ; + + dcterms:identifier "NANDO:2100253" ; a owl:Class ; - rdfs:label "Chronic digestive disease"@en, "ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Chronic digestive disease"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๆถˆๅŒ–ๅ™จ็–พๆ‚ฃ"@ja . -:2100254 - terms:identifier "2100254" ; + + dcterms:identifier "NANDO:2100254" ; a owl:Class ; - rdfs:label "ๅ…ˆๅคฉๆ€งๅธๅŽไธๅ…จ็—‡"@ja ; - rdfs:subClassOf . + rdfs:label "Congenital malabsorption"@en, "ใชใ‚“ใกใ›ใ„ใ’ใ‚Šใ—ใ‚‡ใ†"@ja-Hira, "้›ฃๆฒปๆ€งไธ‹็—ข็—‡"@ja ; + rdfs:subClassOf ; + skos:prefLabel "้›ฃๆฒปๆ€งไธ‹็—ข็—‡"@ja . -:2100255 - terms:identifier "2100255" ; + + dcterms:identifier "NANDO:2100255" ; a owl:Class ; - rdfs:label "microvillus inclusion disease"@en, "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…"@ja ; - rdfs:subClassOf ; + rdfs:label "Microvillus inclusion disease"@en, "ใณใ˜ใ‚…ใ†ใ‚‚ใ†ใตใ†ใซใ‚…ใ†ใŸใ„ใณใ‚‡ใ†"@ja-Hira, "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital microvillus atrophy"@en, "ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009635 ; skos:prefLabel "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…"@ja . -:2100256 - terms:identifier "2100256" ; + + dcterms:identifier "NANDO:2100256" ; a owl:Class ; - rdfs:label "Intestinal Lymphangiectasia"@en, "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Intestinal lymphangiectasia"@en, "ใกใ‚‡ใ†ใ‚Šใ‚“ใฑใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018178 ; skos:prefLabel "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡"@ja . -:2100257 - terms:identifier "2100257" ; + + dcterms:identifier "NANDO:2100257" ; a owl:Class ; - rdfs:label "Polyposis"@en, "ใƒใƒชใƒใƒผใ‚ทใ‚น"@ja ; - rdfs:subClassOf ; + rdfs:label "Polyposis"@en, "ใฝใ‚Šใฝใƒผใ—ใ™"@ja-Hira, "ใƒใƒชใƒใƒผใ‚ทใ‚น"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000147 ; skos:prefLabel "ใƒใƒชใƒใƒผใ‚ทใ‚น"@ja . -:2100258 - terms:identifier "2100258" ; + + dcterms:identifier "NANDO:2100258" ; a owl:Class ; - rdfs:label "Cyclic Vomiting Syndrome"@en, "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Cyclic vomiting syndrome"@en, "ใ—ใ‚…ใ†ใใ›ใ„ใŠใ†ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CVS"@en ; + skos:closeMatch obo:MONDO_0010778 ; skos:prefLabel "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค"@ja . -:2100259 - terms:identifier "2100259" ; + + dcterms:identifier "NANDO:2100259" ; a owl:Class ; - rdfs:label "Inflammatory bowel disease"@en, "็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Inflammatory bowel disease"@en, "ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใกใ‚‡ใ†ใ—ใฃใ‹ใ‚“"@ja-Hira, "็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:altLabel "IBD"@en ; + skos:closeMatch obo:MONDO_0005265 ; skos:prefLabel "็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ"@ja . -:2100260 - terms:identifier "2100260" ; + + dcterms:identifier "NANDO:2100260" ; a owl:Class ; - rdfs:label "Autoimmune enteropathy (including IPEX syndrome.)"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Autoimmune enteropathy (including IPEX syndrome)"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใ‚ใ„ใบใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‚’ใตใใ‚€ใ€‚๏ผ‰"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡๏ผˆIPEX็—‡ๅ€™็พคใ‚’ๅซใ‚€ใ€‚๏ผ‰"@ja . -:2100261 - terms:identifier "2100261" ; + + dcterms:identifier "NANDO:2100261" ; a owl:Class ; - rdfs:label "Non-specific multiple of the small intestine ulcer disease"@en, "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Chronic nonspecific multiple ulcers of the small intestine"@en, "ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CEAS"@en, "Chronic enteropathy associated with SLCO2A1"@en ; + skos:closeMatch obo:MONDO_0018766 ; skos:prefLabel "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja . -:2100262 - terms:identifier "2100262" ; + + dcterms:identifier "NANDO:2100262" ; a owl:Class ; - rdfs:label "Acute Liver Failure"@en, "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Acute liver failure with hepatic coma"@en, "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใตใœใ‚“๏ผˆใ“ใ‚“ใ™ใ„ใŒใŸ๏ผ‰"@ja-Hira, "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Hepatic coma"@en ; skos:prefLabel "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰"@ja . -:2100263 - terms:identifier "2100263" ; + + dcterms:identifier "NANDO:2100263" ; a owl:Class ; - rdfs:label "Neonatal Hemochromatosis"@en, "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น"@ja . + rdfs:label "ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ…็–ซๆ€ง่‚็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅ…็–ซๆ€ง่‚็–พๆ‚ฃ"@ja . -:2100264 - terms:identifier "2100264" ; + + dcterms:identifier "NANDO:2100264" ; a owl:Class ; - rdfs:label "Autoimmune hepatitis"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Autoimmune hepatitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‹ใ‚“ใˆใ‚“"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "AIH"@en ; + skos:closeMatch obo:MONDO_0016264 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja . -:2100265 - terms:identifier "2100265" ; + + dcterms:identifier "NANDO:2100265" ; a owl:Class ; - rdfs:label "Primary sclerosing cholangitis"@en, "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Primary sclerosing cholangitis"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใŸใ‚“ใ‹ใ‚“ใˆใ‚“"@ja-Hira, "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "PSC"@en ; + skos:closeMatch obo:MONDO_0013433, obo:MONDO_0018646 ; skos:prefLabel "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja . -:2100266 - terms:identifier "2100266" ; + + dcterms:identifier "NANDO:2100266" ; a owl:Class ; - rdfs:label "่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ"@ja ; - rdfs:subClassOf . + rdfs:label "intrahepatic cholestatic disorders"@en, "ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ›ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:prefLabel "่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžๆ€ง็–พๆ‚ฃ"@ja . -:2100267 - terms:identifier "2100267" ; + + dcterms:identifier "NANDO:2100267" ; a owl:Class ; - rdfs:label "Congenital hepatic fibrosis"@en, "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Congenital hepatic fibrosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CHF"@en ; + skos:closeMatch obo:MONDO_0018840 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡"@ja . -:2100268 - terms:identifier "2100268" ; + + dcterms:identifier "NANDO:2100268" ; a owl:Class ; - rdfs:label "Liver Cirrhosis"@en, "่‚็กฌๅค‰็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Liver cirrhosis"@en, "ใ‹ใ‚“ใ“ใ†ใธใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚็กฌๅค‰็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005155 ; skos:prefLabel "่‚็กฌๅค‰็—‡"@ja . -:2100269 - terms:identifier "2100269" ; + + dcterms:identifier "NANDO:2100269" ; a owl:Class ; - rdfs:label "portal hypertension"@en, "้–€่„ˆๅœงไบข้€ฒ็—‡"@ja ; - rdfs:subClassOf ; - skos:prefLabel "้–€่„ˆๅœงไบข้€ฒ็—‡"@ja . + rdfs:label "ใ‹ใ‚“ใ‘ใฃใ“ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‚่ก€่กŒ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "่‚่ก€่กŒ็•ฐๅธธ็—‡"@ja . -:2100270 - terms:identifier "2100270" ; + + dcterms:identifier "NANDO:2100270" ; a owl:Class ; - rdfs:label "Congenital Absence of Portal Vein"@en, "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Congenital absence of portal vein"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚‚ใ‚“ใฟใ‚ƒใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CAPV"@en ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡"@ja . -:2100271 - terms:identifier "2100271" ; + + dcterms:identifier "NANDO:2100271" ; a owl:Class ; - rdfs:label "Congenital Hepatoportal Arteriovenous Fistula"@en, "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป"@ja ; - rdfs:subClassOf ; + rdfs:label "Congenital hepatoportal arteriovenous fistula"@en, "ใ‚‚ใ‚“ใฟใ‚ƒใใƒปใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚ใ†"@ja-Hira, "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป"@ja . -:2100272 - terms:identifier "2100272" ; + + dcterms:identifier "NANDO:2100272" ; a owl:Class ; - rdfs:label "Crigler-Najjar syndrome"@en, "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค"@ja . + rdfs:label "Crigler-Najjar syndrome"@en, "ใใ‚Šใใ‚‰ใƒผใƒปใชใ˜ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Crigler-Najjar็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009044 ; + skos:prefLabel "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค"@ja . -:2100273 - terms:identifier "2100273" ; + + dcterms:identifier "NANDO:2100273" ; a owl:Class ; - rdfs:label "Intractable pancreatitis"@en, "้›ฃๆฒปๆ€ง่†ต็‚Ž"@ja ; - rdfs:subClassOf ; + rdfs:label "Intractable pancreatitis"@en, "ใชใ‚“ใ˜ใ›ใ„ใ™ใ„ใˆใ‚“"@ja-Hira, "้›ฃๆฒปๆ€ง่†ต็‚Ž"@ja ; + rdfs:subClassOf ; skos:prefLabel "้›ฃๆฒปๆ€ง่†ต็‚Ž"@ja . -:2100274 - terms:identifier "2100274" ; + + dcterms:identifier "NANDO:2100274" ; a owl:Class ; - rdfs:label "Short Bowel Syndrome"@en, "็Ÿญ่…ธ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Short bowel syndrome"@en, "ใŸใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็Ÿญ่…ธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015183 ; skos:prefLabel "็Ÿญ่…ธ็—‡"@ja . -:2100275 - terms:identifier "2100275" ; + + dcterms:identifier "NANDO:2100275" ; a owl:Class ; - rdfs:label "Hirschsprung disease and related disease"@en, "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ๏ผˆHirschsprung๏ผ‰็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ"@ja . + rdfs:label "Hirschsprung disease and related disease"@en, "ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†ใŠใ‚ˆใณใ‚‹ใ„ใˆใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:altLabel "Allied disorders of Hirschsprung's disease"@en, "Hirschsprung็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ"@ja ; + skos:prefLabel "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ๅŠใณ้กž็ธ็–พๆ‚ฃ"@ja . -:2100276 - terms:identifier "2100276" ; + + dcterms:identifier "NANDO:2100276" ; a owl:Class ; - rdfs:label "giant hepatic haemangiomas"@en, "่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja ; - rdfs:subClassOf ; + rdfs:label "Giant hepatic hemangiomas"@en, "ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…"@ja-Hira, "่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Critical infantile hepatic haemangioma"@en, "Giant hepatic haemangiomas"@en, "ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ"@ja ; skos:prefLabel "่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja . -:2100277 - terms:identifier "2100277" ; + + dcterms:identifier "NANDO:2100277" ; a owl:Class ; - rdfs:label "persistent cloaca"@en, "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Persistent cloaca"@en, "ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“"@ja-Hira, "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja . -:2100278 - terms:identifier "2100278" ; + + dcterms:identifier "NANDO:2100278" ; a owl:Class ; - rdfs:label "Cloacal extrophy"@en, "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Cloacal extrophy"@en, "ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja . -:2100279 - terms:identifier "2100279" ; + + dcterms:identifier "NANDO:2100279" ; a owl:Class ; - rdfs:label "Chromosome abnormality"@en, "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja . + rdfs:label "Chromosome abnormality"@en, "ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019040 ; + skos:prefLabel "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja . -:2100280 - terms:identifier "2100280" ; + + dcterms:identifier "NANDO:2100280" ; a owl:Class ; - rdfs:label "Chromosome abnormality"@en, "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ๆŸ“่‰ฒไฝ“ๅˆใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja . + rdfs:label "Chromosome abnormality"@en, "ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใพใŸใฏใ„ใงใ‚“ใ—ใซใธใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019040 ; + skos:prefLabel "ๆŸ“่‰ฒไฝ“ใพใŸใฏ้บไผๅญใซๅค‰ๅŒ–ใ‚’ไผดใ†็—‡ๅ€™็พค"@ja . -:2100281 - terms:identifier "2100281" ; + + dcterms:identifier "NANDO:2100281" ; a owl:Class ; - rdfs:label "Skin disease"@en, "็šฎ่†š็–พๆ‚ฃ็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Skin disease"@en, "ใฒใตใ—ใฃใ‹ใ‚“ใใ‚“"@ja-Hira, "็šฎ่†š็–พๆ‚ฃ็พค"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005093 ; skos:prefLabel "็šฎ่†š็–พๆ‚ฃ็พค"@ja . -:2100282 - terms:identifier "2100282" ; + + dcterms:identifier "NANDO:2100282" ; a owl:Class ; - rdfs:label "oculocutaneous albinism(congenital albinism)"@en, "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Oculocutaneous albinism (Congenital albinism)"@en, "ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†๏ผˆใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใฒใ—ใ‚‡ใ†๏ผ‰"@ja-Hira, "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "OCA"@en ; skos:prefLabel "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡๏ผ‰"@ja . -:2100283 - terms:identifier "2100283" ; + + dcterms:identifier "NANDO:2100283" ; a owl:Class ; - rdfs:label "Congenital ichthyosis"@en, "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Congenital ichthyosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015947 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja . -:2100284 - terms:identifier "2100284" ; + + dcterms:identifier "NANDO:2100284" ; a owl:Class ; - rdfs:label "epidermolysis bullosa"@en, "่กจ็šฎๆฐด็–ฑ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Epidermolysis bullosa"@en, "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006541 ; skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡"@ja . -:2100285 - terms:identifier "2100285" ; + + dcterms:identifier "NANDO:2100285" ; a owl:Class ; - rdfs:label "pustular psoriasis"@en, "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja ; - rdfs:subClassOf ; + rdfs:label "Pustular psoriasis"@en, "ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰"@ja-Hira, "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "GPP"@en, "Generalized pustular psoriasis"@en ; + skos:closeMatch obo:MONDO_0022205 ; skos:prefLabel "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja . -:2100286 - terms:identifier "2100286" ; + + dcterms:identifier "NANDO:2100286" ; a owl:Class ; - rdfs:label "Xeroderma pigmentosum"@en, "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Xeroderma pigmentosum"@en, "ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ†"@ja-Hira, "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "XP"@en ; + skos:closeMatch obo:MONDO_0019600 ; skos:prefLabel "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja . -:2100287 - terms:identifier "2100287" ; + + dcterms:identifier "NANDO:2100287" ; a owl:Class ; - rdfs:label "von Recklinghausen's disease"@en, "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ๏ผˆRecklinghausen๏ผ‰็—…๏ผˆ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹๏ผ‰"@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ๏ผˆRecklinghausen๏ผ‰็—…๏ผˆ็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹๏ผ‰"@ja . + rdfs:label "von Recklinghausen's disease"@en, "ใ‚Œใฃใใ‚Šใ‚“ใใฏใ†ใœใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Neurofibromatosis type 1"@en, "Recklinghausen็—…"@ja, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0018975 ; + skos:prefLabel "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…"@ja . -:2100288 - terms:identifier "2100288" ; + + dcterms:identifier "NANDO:2100288" ; a owl:Class ; - rdfs:label "pachydermoperiostosis"@en, "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Pachydermoperiostosis"@en, "ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ†"@ja-Hira, "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "PDP"@en ; + skos:closeMatch obo:MONDO_0009799, obo:MONDO_0016620 ; skos:prefLabel "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja . -:2100289 - terms:identifier "2100289" ; + + dcterms:identifier "NANDO:2100289" ; a owl:Class ; - rdfs:label "ectodermal dysplsia"@en, "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ"@ja ; - rdfs:subClassOf ; + rdfs:label "Ectodermal dysplsia"@en, "ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“"@ja-Hira, "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ"@ja ; + rdfs:subClassOf ; skos:prefLabel "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ"@ja . -:2100290 - terms:identifier "2100290" ; + + dcterms:identifier "NANDO:2100290" ; a owl:Class ; - rdfs:label "Stevens-Johnson syndrome"@en, "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Stevens-Johnson syndrome"@en, "ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:subClassOf ; + skos:altLabel "SJS"@en, "Stevens-Johnson็—‡ๅ€™็พค"@ja, "Toxic epidermal necrolysis"@en, "็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018229 ; skos:prefLabel "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:2100291 - terms:identifier "2100291" ; + + dcterms:identifier "NANDO:2100291" ; a owl:Class ; - rdfs:label "Bone disease"@en, "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Bone disease"@en, "ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“"@ja-Hira, "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005381 ; skos:prefLabel "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja . -:2100292 - terms:identifier "2100292" ; + + dcterms:identifier "NANDO:2100292" ; a owl:Class ; - rdfs:label "Thoracic insufficiency syndrome"@en, "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค"@ja ; - rdfs:subClassOf ; + rdfs:label "Thoracic insufficiency syndrome"@en, "ใใ‚‡ใ†ใ‹ใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค"@ja . -:2100293 - terms:identifier "2100293" ; + + dcterms:identifier "NANDO:2100293" ; a owl:Class ; - rdfs:label "Bone disease"@en, "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Bone disease"@en, "ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“"@ja-Hira, "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005381 ; skos:prefLabel "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja . -:2100294 - terms:identifier "2100294" ; + + dcterms:identifier "NANDO:2100294" ; a owl:Class ; - rdfs:label "Vascular disease"@en, "่„ˆ็ฎก็ณป็–พๆ‚ฃ"@ja ; - rdfs:subClassOf ; + rdfs:label "Vascular disease"@en, "ใฟใ‚ƒใฃใ‹ใ‚“ใ‘ใ„/ใฟใ‚ƒใใ‹ใ‚“ใ‘ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "่„ˆ็ฎก็ณป็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005385 ; skos:prefLabel "่„ˆ็ฎก็ณป็–พๆ‚ฃ"@ja . -:2100295 - terms:identifier "2100295" ; + + dcterms:identifier "NANDO:2100295" ; a owl:Class ; - rdfs:label "่„ˆ็ฎกๅฅ‡ๅฝข"@ja ; - rdfs:subClassOf . + rdfs:label "Vascular malformation"@en, "ใฟใ‚ƒใฃใ‹ใ‚“ใ‘ใ„/ใฟใ‚ƒใใ‹ใ‚“ใ‘ใ„ใใ‘ใ„"@ja-Hira, "่„ˆ็ฎกๅฅ‡ๅฝข"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024291 ; + skos:prefLabel "่„ˆ็ฎกๅฅ‡ๅฝข"@ja . -:2100296 - terms:identifier "2100296" ; + + dcterms:identifier "NANDO:2100296" ; a owl:Class ; - rdfs:label "Hereditary hemorrhagic telangiectasia"@en, "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡"@ja ; - rdfs:subClassOf ; + rdfs:label "Hereditary hemorrhagic telangiectasia"@en, "ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใพใฃใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "HHT"@en, "Hereditary haemorrhagic telangiectasia"@en, "Osler-Weber-Rendu disease"@en, "ใ‚ชใ‚นใƒฉใƒผ็—…"@ja ; + skos:closeMatch obo:MONDO_0019180 ; skos:prefLabel "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡"@ja . -:2100297 - terms:identifier "2100297" ; + + dcterms:identifier "NANDO:2100297" ; a owl:Class ; - rdfs:label "Kasabach-Merritt syndrome"@en, "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ๏ผˆKasabach-Merritt๏ผ‰็—‡ๅ€™็พค "@ja ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ๏ผˆKasabach-Merritt๏ผ‰็—‡ๅ€™็พค "@ja . + rdfs:label "Kasabach-Merritt syndrome"@en, "ใ‹ใ•ใฐใฃใฏใƒปใ‚ใ‚Šใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค "@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Kasabach-Merritt็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007708 ; + skos:prefLabel "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค "@ja . -:2200001 - :hasNotificationNumber "80" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200001" ; - terms:source ; + + nando:hasNotificationNumber "80" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200001" ; + dcterms:source ; a owl:Class ; - rdfs:label "B-cell precursor lymphoblastic leukaemia"@en, "ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "B-cell precursor lymphoblastic leukemia"@en, "ใœใ‚“ใใณใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "B-cell precursor lymphoblastic leukaemia"@en ; + skos:closeMatch obo:MONDO_0020511 ; skos:prefLabel "ๅ‰้ง†B็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja . -:2200002 - :hasNotificationNumber "77" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200002" ; - terms:source ; + + nando:hasNotificationNumber "77" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200002" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mature B-cell lymphoblastic leukaemia"@en, "ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Mature B-cell lymphoblastic leukemia"@en, "ใ›ใ„ใ˜ใ‚…ใใณใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "ALL"@en, "Acute lymphoblastic leukemia"@en, "Mature B-cell acute lymphoblastic leukemia"@en, "ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + skos:closeMatch obo:MONDO_0000872 ; skos:prefLabel "ๆˆ็†ŸB็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja . -:2200003 - :hasNotificationNumber "81" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200003" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€้ชจ้ซ„ใซใŠใ„ใฆใƒชใƒณใƒ‘่Šฝ็ƒใŒๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…๏ผˆAcute lymphoblastic leukemiaใ€ALL๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Šฝ็ƒใฏไธญๆžข็ฅž็ตŒใ‚„็ฒพๅทฃใธใจๆตธๆฝคใ™ใ‚‹ใ“ใจใ‚„ใ€็šฎไธ‹่…ซ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่Šฝ็ƒๆฏ”็Ž‡ใŒไฝŽใ„ๅ ดๅˆใฏใ€25%ไปฅไธŠใงALLใ€25%ๆœชๆบ€ใงใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซใฎ้ชจ้ซ„ๆตธๆฝคใจ่จบๆ–ญใ™ใ‚‹ใ€‚้ชจ้ซ„ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ็™ฝ่ก€็—…็ดฐ่ƒžใฎ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Šๅ‰้ง†B็ดฐ่ƒžใ€ๆˆ็†ŸB็ดฐ่ƒžใ€T็ดฐ่ƒžใ€NK็ดฐ่ƒžใชใฉใฎ็ดฐๅˆ†้กžใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200003" ; + dcterms:source ; a owl:Class ; - rdfs:label "T-cell lymphoblastic leukaemia"@en, "T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "T-cell lymphoblastic leukemia"@en, "T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja, "ใฆใƒใƒผใ•ใ„ใผใ†ใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "ALL"@en, "Acute lymphoblastic leukemia"@en, "T-cell lymphoblastic leukaemia"@en, "ๆ€ฅๆ€งใƒชใƒณใƒ‘่Šฝ็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + skos:closeMatch obo:MONDO_0004963 ; skos:prefLabel "T็ดฐ่ƒžๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…"@ja . -:2200004 - :hasNotificationNumber "71" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200004" ; - terms:source ; + + nando:hasNotificationNumber "71" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200004" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute myeloid leukaemia with minimal differentiation"@en, "ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ–"@ja ; + rdfs:label "Acute myeloid leukemia with minimal differentiation"@en, "ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†ใ€ใ•ใ„ใฟใถใ‚“ใ‹"@ja-Hira, "ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ–"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Acute myeloid leukaemia with minimal differentiation"@en ; + skos:closeMatch obo:MONDO_0005223 ; skos:prefLabel "ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆœ€ๆœชๅˆ†ๅŒ–"@ja . -:2200005 - :hasNotificationNumber "79" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200005" ; - terms:source ; + + nando:hasNotificationNumber "79" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200005" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute myeloid leukaemia without maturation"@en, "ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute myeloid leukemia without maturation"@en, "ใ›ใ„ใ˜ใ‚…ใใ‚’ใจใ‚‚ใชใ‚ใชใ„ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Acute myeloid leukaemia without maturation"@en ; + skos:closeMatch obo:MONDO_0005224 ; skos:prefLabel "ๆˆ็†Ÿใ‚’ไผดใ‚ใชใ„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja . -:2200006 - :hasNotificationNumber "78" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200006" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200006" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute myeloid leukaemia with maturation"@en, "ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute myeloid leukemia with maturation"@en, "ใ›ใ„ใ˜ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Acute myeloid leukaemia with maturation"@en ; + skos:closeMatch obo:MONDO_0020320 ; skos:prefLabel "ๆˆ็†Ÿใ‚’ไผดใ†ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja . -:2200007 - :hasNotificationNumber "74" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200007" ; - terms:source ; + + nando:hasNotificationNumber "74" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200007" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute promyelocytic leukaemia"@en, "ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute promyelocytic leukemia"@en, "ใใ‚…ใ†ใ›ใ„ใœใ‚“ใ“ใคใšใ„ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Acute promyelocytic leukaemia"@en ; + skos:closeMatch obo:MONDO_0012883 ; skos:prefLabel "ๆ€ฅๆ€งๅ‰้ชจ้ซ„็ƒๆ€ง็™ฝ่ก€็—…"@ja . -:2200008 - :hasNotificationNumber "72" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200008" ; - terms:source ; + + nando:hasNotificationNumber "72" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200008" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute monocytic leukaemia"@en, "ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute monocytic leukemia"@en, "ใใ‚…ใ†ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Acute monocytic leukaemia"@en ; + skos:closeMatch obo:MONDO_0000875, obo:MONDO_0007896 ; skos:prefLabel "ๆ€ฅๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja . -:2200009 - :hasNotificationNumber "75" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200009" ; - terms:source ; + + nando:hasNotificationNumber "75" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200009" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute megakaryoblastic leukaemia"@en, "ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute monocytic leukemia"@en, "ใใ‚…ใ†ใ›ใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018872 ; + rdfs:subClassOf ; + skos:altLabel "Acute monocytic leukaemia"@en ; + skos:closeMatch obo:MONDO_0000875, obo:MONDO_0007896 ; skos:prefLabel "ๆ€ฅๆ€งๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja . -:2200010 - :hasNotificationNumber "73" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200010" ; - terms:source ; + + nando:hasNotificationNumber "73" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200010" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute erythremia"@en, "ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute erythremia"@en, "ใใ‚…ใ†ใ›ใ„ใ›ใใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Acute erythraemia"@en, "Di Guglielmo's disease"@en ; + skos:closeMatch obo:MONDO_0017858 ; skos:prefLabel "ๆ€ฅๆ€ง่ตค็™ฝ่ก€็—…"@ja . -:2200011 - :hasNotificationNumber "70" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่กจ1. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎFABๅˆ†้กž่กจ2. ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆAML๏ผ‰ใฎWHOๅˆ†้กž๏ผˆ็ฌฌ4็‰ˆ๏ผ‰"@ja ; - terms:identifier "2200011" ; - terms:source ; + + nando:hasNotificationNumber "70" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šๅข—ๆฎ–่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅˆ†ๅŒ–่ƒฝใ‚’ๅคฑใฃใŸๅนผ่‹ฅ้€ ่ก€็ดฐ่ƒž๏ผˆ่Šฝ็ƒ๏ผ‰ใŒ่‡ชๅพ‹็š„ใซๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎใ†ใก่Šฝ็ƒใฎๅฝข่ณชใŒ้ชจ้ซ„็ณป้€ ่ก€็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ๅ‚พๅ‘ใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆacute myeloid leukemia: AML๏ผ‰ใจใ„ใ†ใŒใ€ๅฐๅ…ใซใŠใ„ใฆใฏๆ€ฅๆ€ง็™ฝ่ก€็—…ใฎ็ด„25%ใŒAMLใงใ‚ใ‚‹ใ€‚AMLใฏWHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใซใ—ใŸใŒใฃใฆใ€ๅŽŸๅ‰‡ใจใ—ใฆ่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ‚‹1)ใ€‚FABๅˆ†้กžใงใฏ้ชจ้ซ„ใพใŸใฏๆœซๆขข่ก€ๆจ™ๆœฌใฎๆŸ“่‰ฒๆ‰€่ฆ‹ใŠใ‚ˆใณ่กจ้ขๆŠ—ๅŽŸๆคœๆŸปใซใ‚ˆใ‚Š็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€WHOๅˆ†้กž๏ผˆๆ”น่จ‚็ฌฌ4็‰ˆ๏ผ‰ใงใฏใ“ใ‚Œใ‚‰ใซๅŠ ใˆใฆAMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“็•ฐๅธธใƒป้บไผๅญๅค‰็•ฐใฎๆœ‰็„กใ€ๆŠ—ใŒใ‚“ๅ‰คใƒปๆ”พๅฐ„็ทšๆฒป็™‚ๆญดใฎๆœ‰็„ก็ญ‰ใซๅŸบใฅใ„ใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ€่Šฝ็ƒใŒๆœซๆขข่ก€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„ใซใŠใ‘ใ‚‹ๅ…จๆœ‰ๆ ธ็ดฐ่ƒžๆ•ฐใฎ20%ๆœชๆบ€ใงใ‚ใฃใฆใ‚‚ใ€AMLใซ็‰น็•ฐ็š„ใชๆŸ“่‰ฒไฝ“ใƒป้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏAMLใจ่จบๆ–ญใ—ใ†ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200011" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute megakaryoblastic leukaemia"@en, "ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute megakaryoblastic leukemia"@en, "ใใ‚…ใ†ใ›ใ„ใใ‚‡ใ‹ใใŒใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018872 ; + rdfs:subClassOf ; + skos:altLabel "Acute megakaryoblastic leukaemia"@en ; + skos:closeMatch obo:MONDO_0018872 ; skos:prefLabel "ๆ€ฅๆ€งๅทจๆ ธ่Šฝ็ƒๆ€ง็™ฝ่ก€็—…"@ja . -:2200012 - :hasNotificationNumber "82" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200012" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200012" ; + dcterms:source ; a owl:Class ; - rdfs:label "NK cell leukaemia"@en, "NK็ดฐ่ƒž็™ฝ่ก€็—…"@ja ; + rdfs:label "NK cell leukemia"@en, "NK็ดฐ่ƒž็™ฝ่ก€็—…"@ja, "ใˆใฌใ‘ใƒผใ•ใ„ใผใ†ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ็ดฐ่ƒž็™ฝ่ก€็—…"@ja ; + rdfs:subClassOf ; + skos:altLabel "NK cell leukaemia"@en, "ใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ็ดฐ่ƒž็™ฝ่ก€็—…"@ja ; + skos:closeMatch obo:MONDO_0019470 ; skos:prefLabel "NK็ดฐ่ƒž็™ฝ่ก€็—…"@ja . -:2200013 - :hasNotificationNumber "83" ; - terms:description "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆCML๏ผ‰ใฏๆ…ขๆ€งๆœŸใ‹ใ‚‰็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใธ้€ฒ่กŒใ™ใ‚‹้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ ่ก€ๅนน็ดฐ่ƒžใซPhๆŸ“่‰ฒไฝ“ใ€ใ™ใชใ‚ใกBCR-ABLใ‚ญใƒกใƒฉ้บไผๅญใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใจใ€ABLใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผใฎๆ’ๅธธ็š„ใชๆดปๆ€งๅŒ–ใ‹ใ‚‰็ดฐ่ƒžๅข—ๆฎ–ใฎไบข้€ฒใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใฎ้˜ปๅฎณใ€้ชจ้ซ„ใ‚นใƒˆใƒญใƒผใƒžใธใฎๆŽฅ็€็•ฐๅธธใ€ใ‚ฒใƒŽใƒ ใฎไธๅฎ‰ๅฎšๆ€งใŒ็”Ÿใ˜ใ€ๆ…ขๆ€งๆœŸใซใฏ้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ใ€ๅข—ๆฎ–ใŒๅผทใ่ช˜ๅฐŽใ•ใ‚Œใ‚‹ใ€‚็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใซใฏๆœชๅˆ†ๅŒ–ใช่Šฝ็ƒใฎๅข—ๆฎ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200013" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:description "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…๏ผˆCML๏ผ‰ใฏๆ…ขๆ€งๆœŸใ‹ใ‚‰็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใธ้€ฒ่กŒใ™ใ‚‹้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ ่ก€ๅนน็ดฐ่ƒžใซPhๆŸ“่‰ฒไฝ“ใ€ใ™ใชใ‚ใกBCR-ABLใ‚ญใƒกใƒฉ้บไผๅญใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใจใ€ABLใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผใฎๆ’ๅธธ็š„ใชๆดปๆ€งๅŒ–ใ‹ใ‚‰็ดฐ่ƒžๅข—ๆฎ–ใฎไบข้€ฒใ€ใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใฎ้˜ปๅฎณใ€้ชจ้ซ„ใ‚นใƒˆใƒญใƒผใƒžใธใฎๆŽฅ็€็•ฐๅธธใ€ใ‚ฒใƒŽใƒ ใฎไธๅฎ‰ๅฎšๆ€งใŒ็”Ÿใ˜ใ€ๆ…ขๆ€งๆœŸใซใฏ้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใธใฎๅˆ†ๅŒ–ใ€ๅข—ๆฎ–ใŒๅผทใ่ช˜ๅฐŽใ•ใ‚Œใ‚‹ใ€‚็งป่กŒๆœŸใ€ๆ€ฅๆ€ง่ปขๅŒ–ๆœŸใซใฏๆœชๅˆ†ๅŒ–ใช่Šฝ็ƒใฎๅข—ๆฎ–ใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200013" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic myeloid leukaemia"@en, "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Chronic myeloid leukemia"@en, "ใพใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "CML"@en ; - skos:closeMatch mondo:MONDO_0001014, mondo:MONDO_0011996 ; + rdfs:subClassOf ; + skos:altLabel " Chronic myelogenous leukemia"@en, "CML"@en, "Chronic myeloid leukaemia"@en ; + skos:closeMatch obo:MONDO_0011996 ; skos:prefLabel "ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…"@ja . -:2200014 - :hasNotificationNumber "84" ; - terms:description "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (CMML)ใฏๅ˜็ƒๅข—ๅŠ ใ‚’็‰นๅพดใจใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง่…ซ็˜(MPN)ใจ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค (MDS)ใฎๆ€ง่ณชใ‚’ไฝตใ›ๆŒใคใ‚ฏใƒญใƒผใƒณๆ€ง้ชจ้ซ„่…ซ็˜ใงใ‚ใ‚‹1)ใ€‚ๅฐๅ…ใซใŠใ„ใฆใฏๅŒๆง˜ใฎ็—…ๆ…‹ใจใ—ใฆRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚’ๆœ‰ใ—ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใŒใ‚ใ‚‹ใŒใ€ๅŽณๅฏ†ใช้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200014" ; - terms:source ; + + nando:hasNotificationNumber "84" ; + dcterms:description "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (CMML)ใฏๅ˜็ƒๅข—ๅŠ ใ‚’็‰นๅพดใจใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง่…ซ็˜(MPN)ใจ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค (MDS)ใฎๆ€ง่ณชใ‚’ไฝตใ›ๆŒใคใ‚ฏใƒญใƒผใƒณๆ€ง้ชจ้ซ„่…ซ็˜ใงใ‚ใ‚‹1)ใ€‚ๅฐๅ…ใซใŠใ„ใฆใฏๅŒๆง˜ใฎ็—…ๆ…‹ใจใ—ใฆRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚’ๆœ‰ใ—ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใŒใ‚ใ‚‹ใŒใ€ๅŽณๅฏ†ใช้‘‘ๅˆฅใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200014" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic myelomonocytic leukaemia"@en, "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Chronic myelomonocytic leukemia"@en, "ใพใ‚“ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "CMML"@en, "Chronic myelomonocytic leukaemia"@en ; + skos:closeMatch obo:MONDO_0011908, obo:MONDO_0020311 ; skos:prefLabel "ๆ…ขๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja . -:2200015 - :hasNotificationNumber "76" ; - terms:description "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใฏๅคš่ƒฝๆ€ง้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Šๅ˜็ƒใจ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใŒ็•ฐๅธธๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ€ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹ใ€‚้ก†็ฒ’็ƒๅ˜็ƒใ‚ณใƒญใƒ‹ใƒผๅˆบๆฟ€ๅ› ๅญ (granulocyte-macrophage colony stimulating factor: GM-CSF)ๅ—ๅฎนไฝ“ฮฒ้Ž–ไธ‹ๆตใฎRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใŒ็ด„90%ใฎ็—‡ไพ‹ใงๆคœๅ‡บใ•ใ‚Œใ€JMMLใฎ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใฏGM-CSFใซๅฏพใ™ใ‚‹้ซ˜ๆ„Ÿๅ—ๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใ‚ฏใƒญใƒผใƒณใซ็”ฑๆฅใ™ใ‚‹็ดฐ่ƒžใŒๆœซๆขข่ก€ใ‚„้ชจ้ซ„ใฎใฟใชใ‚‰ใšๅ…จ่บซใฎ่‡“ๅ™จใงๅข—ๆฎ–ใ—ใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ใใŸใ™ใ€‚"@ja ; - terms:identifier "2200015" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:description "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—… (JMML)ใฏๅคš่ƒฝๆ€ง้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Šๅ˜็ƒใจ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใŒ็•ฐๅธธๅข—ๆฎ–ใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ€ไนณๅนผๅ…ใซๅฅฝ็™บใ™ใ‚‹ใ€‚้ก†็ฒ’็ƒๅ˜็ƒใ‚ณใƒญใƒ‹ใƒผๅˆบๆฟ€ๅ› ๅญ (granulocyte-macrophage colony stimulating factor: GM-CSF)ๅ—ๅฎนไฝ“ฮฒ้Ž–ไธ‹ๆตใฎRAS็ตŒ่ทฏใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎๅค‰็•ฐใŒ็ด„90%ใฎ็—‡ไพ‹ใงๆคœๅ‡บใ•ใ‚Œใ€JMMLใฎ้ชจ้ซ„็ƒ็ณปๅ‰้ง†็ดฐ่ƒžใฏGM-CSFใซๅฏพใ™ใ‚‹้ซ˜ๆ„Ÿๅ—ๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใ‚ฏใƒญใƒผใƒณใซ็”ฑๆฅใ™ใ‚‹็ดฐ่ƒžใŒๆœซๆขข่ก€ใ‚„้ชจ้ซ„ใฎใฟใชใ‚‰ใšๅ…จ่บซใฎ่‡“ๅ™จใงๅข—ๆฎ–ใ—ใ€ๅคšๅฝฉใช็—‡็Šถใ‚’ใใŸใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200015" ; + dcterms:source ; a owl:Class ; - rdfs:label "Juvenile myelomonocytic leukaemia"@en, "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Juvenile myelomonocytic leukemia"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใคใšใ„ใŸใ‚“ใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "JMML"@en, "JMML"@ja, "Juvenile myelomonocytic leukaemia"@en ; + skos:closeMatch obo:MONDO_0011908 ; skos:prefLabel "่‹ฅๅนดๆ€ง้ชจ้ซ„ๅ˜็ƒๆ€ง็™ฝ่ก€็—…"@ja . -:2200016 - :hasNotificationNumber "85" ; - terms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200016" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:description "ๆ€ฅๆ€ง็™ฝ่ก€็—…ใฏ้€ ่ก€ๅ™จใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏไธ€่ˆฌใซๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€ๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซๅคงๅˆฅใ•ใ‚Œใ‚‹(ๅฐๅ…ใงใฏๆ…ขๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹)ใ€‚ใ—ใ‹ใ—ใ€ใ“ใฎใ„ใšใ‚Œใซใ‚‚ใ‚ใฆใฏใพใ‚‰ใชใ„่กจ็พๅž‹ใ‚’ใจใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆAcute leukemia of ambiguous lineage๏ผ‰ใจใ•ใ‚Œใ€WHOๅˆ†้กžใงใฏใฒใจใคใฎ็–พๆ‚ฃๅˆ†้กžใจใ—ใฆ็‹ฌ็ซ‹ใ—ใฆใ„ใ‚‹1)ใ€‚็‰นๅฎšใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ•ใšใซใ€ใฉใฎๅˆ†้กžใ‚‚ๆบ€ใŸใ•ใชใ„ใ‚‚ใฎใ‚’ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…๏ผˆAcute undifferentiated leukemia๏ผ‰ใ‚‚ใ—ใใฏๆ€ฅๆ€งๅˆ†้กžไธ่ƒฝๅž‹็™ฝ่ก€็—…๏ผˆAcute unclassified leukemia๏ผ‰ใจๅˆ†้กžใ—ใ€ใ„ใšใ‚Œใ‚‚AULใจ็•ฅใ•ใ‚Œใ‚‹ใ€‚่ค‡ๆ•ฐใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’็คบใ™ใ‚‚ใฎใ‚’ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…๏ผˆMixed phenotype acute leukemia, MPAL๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚NK๏ผˆใƒŠใƒใƒฅใƒฉใƒซใ‚ญใƒฉใƒผ๏ผ‰็ดฐ่ƒžใฎ่กจ็พๅž‹ใ‚’ๆŒใคใ‚‚ใฎใฏNK็ดฐ่ƒž็™ฝ่ก€็—…ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€ใ—ใฐใ—ใฐๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใชใฉใธใฎๅˆ†ๅŒ–็ณป็ตฑใ‚’ไฝตใ›ๆŒใคใ“ใจใ‹ใ‚‰ใ€ๆšซๅฎš็š„ใซๅˆ†ๅŒ–็ณป็ตฑไธๆ˜Ž็žญใชๆ€ฅๆ€ง็™ฝ่ก€็—…ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ๅŸบๆœฌ็š„ใช็—…ๆ…‹ใฏไป–ใฎ็™ฝ่ก€็—…ใจๅ…ฑ้€šใงใ‚ใ‚Šใ€็™ฝ่ก€็—…ใฎ่จบๆ–ญใฏ้ชจ้ซ„็ฉฟๅˆบใงใฎ่Šฝ็ƒใฎๆคœๅ‡บใซใ‚ˆใฃใฆใชใ•ใ‚Œใ€่กจ้ขๆŠ—ๅŽŸใฎ็™บ็พใƒ‘ใ‚ฟใƒผใƒณใซใ‚ˆใ‚Šๅˆ†้กžใŒใชใ•ใ‚Œใ‚‹ใ€‚่Šฝ็ƒใฎๅข—ๆฎ–ใซใ‚ˆใ‚Šๆญฃๅธธใช้€ ่ก€ใŒๆใชใ‚ใ‚Œใ‚‹ใปใ‹ใ€่Šฝ็ƒใฎๆตธๆฝคใซใ‚ˆใ‚‹ใƒชใƒณใƒ‘็ฏ€ใ‚„่‚่‡“ใƒป่„พ่‡“ใชใฉใฎ่…ซๅคงใŒใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200016" ; + dcterms:source ; a owl:Class ; - rdfs:label "1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—…"@ja, "Other leukaemia"@en ; + rdfs:label "1ใ‹ใ‚‰15ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—…"@ja, "Other leukemia"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Other leukaemia"@en ; skos:prefLabel "1ใ‹ใ‚‰15ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็—…"@ja . -:2200017 - :hasNotificationNumber "85" ; - terms:identifier "2200017" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:2200017" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acute undifferentiated leukemia"@en, "ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…"@ja ; + rdfs:label "Acute undifferentiated leukemia"@en, "ใใ‚…ใ†ใ›ใ„ใฟใถใ‚“ใ‹ใŒใŸใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "AUL"@en, "Acute leukemia of ambiguous lineage"@en, "Acute unclassified leukemia"@en ; - skos:closeMatch mondo:MONDO_0019460, mondo:MONDO_0020321 ; + rdfs:subClassOf ; + skos:altLabel "AUL"@en, "Acute leukemia of ambiguous lineage"@en, "Acute unclassified leukaemia"@en, "Acute undifferentiated leukaemia"@en ; + skos:closeMatch obo:MONDO_0019460, obo:MONDO_0020321 ; skos:prefLabel "ๆ€ฅๆ€งๆœชๅˆ†ๅŒ–ๅž‹็™ฝ่ก€็—…"@ja . -:2200018 - :hasNotificationNumber "85" ; - terms:identifier "2200018" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:2200018" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mixed phenotype acute leukemia"@en, "ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…"@ja ; + rdfs:label "Mixed phenotype acute leukemia"@en, "ใ“ใ‚“ใ”ใ†ใŒใŸใใ‚…ใ†ใ›ใ„ใฏใฃใ‘ใคใณใ‚‡ใ†"@ja-Hira, "ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "MPAL"@en ; - skos:closeMatch mondo:MONDO_0019460, mondo:MONDO_0020743 ; + rdfs:subClassOf ; + skos:altLabel "MPAL"@en, "Mixed phenotype acute leukaemia"@en ; + skos:closeMatch obo:MONDO_0019460, obo:MONDO_0020743 ; skos:prefLabel "ๆททๅˆๅž‹ๆ€ฅๆ€ง็™ฝ่ก€็—…"@ja . -:2200019 - :hasNotificationNumber "44" ; - terms:description "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Š็„กๅŠน้€ ่ก€ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…(AML)ใซ้€ฒ่กŒใ™ใ‚‹ใƒชใ‚นใ‚ฏใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆœซๆขข่ก€ใŠใ‚ˆใณ้ชจ้ซ„ใซใŠใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใซใ‚ˆใฃใฆ็—…ๅƒใŒ็•ฐใชใ‚Šใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„MDSใฏ็„กๅŠน้€ ่ก€ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใŒไธปไฝ“ใจใชใฃใฆๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ (AA)ใจใฎ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹ใฎใซๅฏพใ—ใฆใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ†MDSใฏAMLใซ่ฟ‘ใ„็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ๅฐๅ…ใฎMDSใฏใพใ‚Œใงใ€ๆˆไบบใฎใ‚‚ใฎใจใฏ็•ฐใชใ‚‹็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจ 5q-็—‡ๅ€™็พคใฏๅฐๅ…ใงใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ไธ€ๆ–นใงFanconi่ฒง่ก€ใชใฉใฎ้บไผๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค (inherited bone marrow failure syndrome: IBMFS)ใ‚„Down็—‡ๅ€™็พคใ€€(Down syndrome; DS)ใชใฉๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ ใพใŸใ€ๆ‚ชๆ€ง่…ซ็˜ใซๅฏพใ™ใ‚‹ๅŒ–ๅญฆ็™‚ๆณ•ใƒปๆ”พๅฐ„็ทšๆฒป็™‚ใ€AAใซๅฏพใ™ใ‚‹ๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใชใฉใซ็ถš็™บใ—ใ†ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็‰นๅพดใ‚’้‘‘ใฟใฆใ€ใƒจใƒผใƒญใƒƒใƒ‘ๅฐๅ…MDS็ ”็ฉถใ‚ฐใƒซใƒผใƒ— (EWOG)ใฏ2003ๅนดใซๅฐๅ…็‹ฌ่‡ชใฎMDS/MPD (้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ)็—…ๅž‹ๅˆ†้กžใ‚’ๆๆกˆใ—ใŸ1)ใ€‚WHOๅˆ†้กž็ฌฌ๏ผ”็‰ˆใซใŠใ„ใฆใ‚‚ใ“ใฎๅˆ†้กžใŒๆŽก็”จใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚่กจ ๅฐๅ…MDS/MPD็—…ๅž‹ๅˆ†้กž1)*่จป๏ผš AMLใจMDSใ‚’ใ‚ใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ใจใ—ใฆWHOๅˆ†้กžใฏ20%ใ‚’็”จใ„ใฆใ„ใ‚‹ใŒใ€ใ“ใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ๅ€คใฎๆ„็พฉใŒๅฐๅ…ใงใฏไธๆ˜Žใงใ‚ใ‚‹ใจใฎ็†็”ฑใ‹ใ‚‰EWOGใฏใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’30%ใจใ—ใฆFABๅˆ†้กžใง็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸRAEB-Tใ‚’MDSใซๆฎ‹ใ—ใฆใ„ใ‚‹ใ€‚ๆœฌๆฆ‚่ฆใฏAMLใฎ่จบๆ–ญๆฆ‚่ฆใจใฎๆ•ดๅˆๆ€งใ‚’้‘‘ใฟใฆใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’20%ใจใ—ใŸใ€‚"@ja ; - terms:identifier "2200019" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:description "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใฎใ‚ฏใƒญใƒผใƒณๆ€ง็•ฐๅธธใซใ‚ˆใ‚Š็„กๅŠน้€ ่ก€ใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…(AML)ใซ้€ฒ่กŒใ™ใ‚‹ใƒชใ‚นใ‚ฏใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ๆœซๆขข่ก€ใŠใ‚ˆใณ้ชจ้ซ„ใซใŠใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใซใ‚ˆใฃใฆ็—…ๅƒใŒ็•ฐใชใ‚Šใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ‚ใชใ„MDSใฏ็„กๅŠน้€ ่ก€ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใŒไธปไฝ“ใจใชใฃใฆๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ (AA)ใจใฎ้‘‘ๅˆฅใ‚’่ฆใ™ใ‚‹ใฎใซๅฏพใ—ใฆใ€่Šฝ็ƒๅข—ๅŠ ใ‚’ไผดใ†MDSใฏAMLใซ่ฟ‘ใ„็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ๅฐๅ…ใฎMDSใฏใพใ‚Œใงใ€ๆˆไบบใฎใ‚‚ใฎใจใฏ็•ฐใชใ‚‹็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจ 5q-็—‡ๅ€™็พคใฏๅฐๅ…ใงใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚Šใ€ไธ€ๆ–นใงFanconi่ฒง่ก€ใชใฉใฎ้บไผๆ€ง้ชจ้ซ„ไธๅ…จ็—‡ๅ€™็พค (inherited bone marrow failure syndrome: IBMFS)ใ‚„Down็—‡ๅ€™็พคใ€€(Down syndrome; DS)ใชใฉๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ ใพใŸใ€ๆ‚ชๆ€ง่…ซ็˜ใซๅฏพใ™ใ‚‹ๅŒ–ๅญฆ็™‚ๆณ•ใƒปๆ”พๅฐ„็ทšๆฒป็™‚ใ€AAใซๅฏพใ™ใ‚‹ๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใชใฉใซ็ถš็™บใ—ใ†ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็‰นๅพดใ‚’้‘‘ใฟใฆใ€ใƒจใƒผใƒญใƒƒใƒ‘ๅฐๅ…MDS็ ”็ฉถใ‚ฐใƒซใƒผใƒ— (EWOG)ใฏ2003ๅนดใซๅฐๅ…็‹ฌ่‡ชใฎMDS/MPD (้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ)็—…ๅž‹ๅˆ†้กžใ‚’ๆๆกˆใ—ใŸ1)ใ€‚WHOๅˆ†้กž็ฌฌ๏ผ”็‰ˆใซใŠใ„ใฆใ‚‚ใ“ใฎๅˆ†้กžใŒๆŽก็”จใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚่กจ ๅฐๅ…MDS/MPD็—…ๅž‹ๅˆ†้กž1)*่จป๏ผš AMLใจMDSใ‚’ใ‚ใ‘ใ‚‹่Šฝ็ƒๅ‰ฒๅˆใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ใจใ—ใฆWHOๅˆ†้กžใฏ20%ใ‚’็”จใ„ใฆใ„ใ‚‹ใŒใ€ใ“ใฎใ‚ซใƒƒใƒˆใ‚ชใƒ•ๅ€คใฎๆ„็พฉใŒๅฐๅ…ใงใฏไธๆ˜Žใงใ‚ใ‚‹ใจใฎ็†็”ฑใ‹ใ‚‰EWOGใฏใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’30%ใจใ—ใฆFABๅˆ†้กžใง็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸRAEB-Tใ‚’MDSใซๆฎ‹ใ—ใฆใ„ใ‚‹ใ€‚ๆœฌๆฆ‚่ฆใฏAMLใฎ่จบๆ–ญๆฆ‚่ฆใจใฎๆ•ดๅˆๆ€งใ‚’้‘‘ใฟใฆใ‚ซใƒƒใƒˆใ‚ชใƒ•ใ‚’20%ใจใ—ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200019" ; + dcterms:source ; a owl:Class ; - rdfs:label "Myelodysplastic syndrome"@en, "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค"@ja ; + rdfs:label "Myelodysplastic syndrome"@en, "ใ“ใคใšใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018881, mondo:MONDO_0044873 ; + rdfs:subClassOf ; + skos:altLabel "MDS"@en, "MDS"@ja ; + skos:closeMatch obo:MONDO_0018881, obo:MONDO_0044873 ; skos:prefLabel "้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค"@ja . -:2200020 - :hasNotificationNumber "86" ; - terms:description "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚"@ja ; - terms:identifier "2200020" ; - terms:source ; + + nando:hasNotificationNumber "86" ; + dcterms:description "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200020" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mature B-cell lymphoma"@en, "ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:label "Mature B-cell lymphoma"@en, "ใ›ใ„ใ˜ใ‚…ใใณใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "B-NHL"@en, "B-NHL"@ja ; + skos:closeMatch obo:MONDO_0015759 ; skos:prefLabel "ๆˆ็†ŸB็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja . -:2200021 - :hasNotificationNumber "90" ; - terms:description "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚"@ja ; - terms:identifier "2200021" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:description "ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ๏ผˆALCL๏ผ‰ใฏใ€NHLใซๅฑžใ—ใ€ๅ…็–ซ่กจ็พๅž‹ใฏไธปใจใ—ใฆๆˆ็†ŸT็ดฐ่ƒžๅž‹ใงใ‚ใ‚‹ใŒใ€ใƒŒใƒซ็ดฐ่ƒžๅž‹ใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…จใฆใฎ็—‡ไพ‹ใงCD30ใŒ้™ฝๆ€งใจใชใ‚‹ใ€‚90%ไปฅไธŠใฎ็—‡ไพ‹ใงALK้บไผๅญๅ†ๆง‹ๆˆ้™ฝๆ€งใจใชใ‚‹ใ€‚WHOๅˆ†้กžๆ”นๅฎš็ฌฌ4็‰ˆใงใฏใ€ALK้™ฝๆ€งใจ้™ฐๆ€งใงALCLใฎ็—…ๅž‹ใ‚’ๅŒบๅˆฅใ—ใฆๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200021" ; + dcterms:source ; a owl:Class ; - rdfs:label "Anaplastic large cell lymphoma"@en, "ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:label "Anaplastic large cell lymphoma"@en, "ใฟใถใ‚“ใ‹ใ ใ„ใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020325 ; + rdfs:subClassOf ; + skos:altLabel "ALCL"@en, "ALCL"@ja ; + skos:closeMatch obo:MONDO_0020325 ; skos:prefLabel "ๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja . -:2200022 - :hasNotificationNumber "88" ; - terms:description "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚"@ja ; - terms:identifier "2200022" ; - terms:source ; + + nando:hasNotificationNumber "88" ; + dcterms:description "ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆLBL๏ผ‰ใฏNHLใซๅฑžใ—ใ€Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆB-LBL๏ผ‰ใฏterminal deoxynucleotidyl transferase๏ผˆTdT๏ผ‰้™ฝๆ€งใงๅ‰้ง†B็ดฐ่ƒžๅž‹ใฎ่กจ็พๅž‹ใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้ชจ้ซ„ใซๆตธๆฝคใŒใ‚ใ‚‹ๅ ดๅˆใ€LBLใจๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…๏ผˆALL๏ผ‰ใฎๆ˜Ž็ขบใชๅŒบๅˆฅใฏ้›ฃใ—ใ„ใŒใ€ๅพ“ๆฅใ€้ชจ้ซ„่Šฝ็ƒใŒ25%ไปฅไธŠใงใ‚ใ‚‹ๅ ดๅˆใ‚’ALLใจใ—ใ€25๏ผ…ๆœชๆบ€ใ‚’LBLใจใ—ใฆใ„ใ‚‹ใ€‚WHOๅˆ†้กžใฏLBLใจALLใ‚’ๅŒใ˜็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200022" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ"@ja, "Precursor B lymphoblastic lymphoma"@en ; + rdfs:label "Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ"@ja, "Precursor B lymphoblastic lymphoma"@en, "ใณใƒผใ‚Šใ‚“ใฑใŒใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020511 ; skos:prefLabel "Bใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ"@ja . -:2200023 - :hasNotificationNumber "87" ; - terms:description "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚"@ja ; - terms:identifier "2200023" ; - terms:source ; + + nando:hasNotificationNumber "87" ; + dcterms:description "ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใฏใ€ใƒชใƒณใƒ‘็ณป็ดฐ่ƒž็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง้ชจ้ซ„ใ‚’้™คใใƒชใƒณใƒ‘็ต„็น”ใƒป้žใƒชใƒณใƒ‘็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ€ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใƒณใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆNHL๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆLBL๏ผ‰ใฏNHLใซๅฑžใ—ใ€Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผˆT-LBL๏ผ‰ใฏterminal deoxynucleotidyl transferase๏ผˆTdT๏ผ‰้™ฝๆ€งใงT็ดฐ่ƒžๅž‹ใฎ่กจ็พๅž‹ใ‚’ๆœ‰ใ™ใ‚‹ใ€‚้ชจ้ซ„ใซๆตธๆฝคใŒใ‚ใ‚‹ๅ ดๅˆใ€LBLใจๆ€ฅๆ€งใƒชใƒณใƒ‘ๆ€ง็™ฝ่ก€็—…๏ผˆALL๏ผ‰ใฎๆ˜Ž็ขบใชๅŒบๅˆฅใฏ้›ฃใ—ใ„ใŒใ€ๅพ“ๆฅใ€้ชจ้ซ„่Šฝ็ƒใŒ25%ไปฅไธŠใงใ‚ใ‚‹ๅ ดๅˆใ‚’ALLใจใ—ใ€25๏ผ…ๆœชๆบ€ใ‚’LBLใจใ—ใฆใ„ใ‚‹ใ€‚WHOๅˆ†้กžใฏLBLใจALLใ‚’ๅŒใ˜็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€‚LBLใฏALLใจใฏๅฏพ็…ง็š„ใซใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใฏใปใจใ‚“ใฉๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใŒใ€ๅฐๅ…T-LBLใซใŠใ„ใฆใฏใ€6็•ชๆŸ“่‰ฒไฝ“้•ท่…•ใฎใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๅ–ชๅคฑ๏ผˆ6q LOH๏ผ‰ใŒไบˆๅพŒไธ่‰ฏใจ้–ข้€ฃใ—ใ€NOTCH1้บไผๅญๅค‰็•ฐใŒไบˆๅพŒ่‰ฏๅฅฝใจ้–ข้€ฃใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200023" ; + dcterms:source ; a owl:Class ; - rdfs:label "Precursor T lymphoblastic lymphoma"@en, "Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:label "Precursor T lymphoblastic lymphoma"@en, "Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ"@ja, "ใฆใƒใƒผใ‚Šใ‚“ใฑใŒใใ‚…ใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0044917 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0044917 ; skos:prefLabel "Tใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ"@ja . -:2200024 - :hasNotificationNumber "89" ; - terms:description "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆHodgkin lymphoma, HL๏ผ‰ใฏใƒชใƒณใƒ‘็ฏ€ใพใŸใฏไป–ใฎใƒชใƒณใƒ‘ๆ€ง็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใƒชใƒณใƒ‘ๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€็ต„็น”ๅญฆ็š„ใซReed-Sternberg็ดฐ่ƒžใพใŸใฏใใฎๅค‰็จฎใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใ€็—…็†ๅƒใฎ็›ธ้•ใ‹ใ‚‰็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹HL (nodular lymphocyte predominance Hodgkin lymphoma: NLPHL)ใจๅคๅ…ธ็š„classical (C) HL [ๆททๅˆๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆmixed cellularity: MCCHL๏ผ‰,็ต็ฏ€ๆ€ง็กฌๅŒ–ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆnodular sclerosis: NSCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒ่ฑŠๅฏŒๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte-rich: LRCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒๆธ›ๅฐ‘ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte depletion: LDCHL๏ผ‰]ใซๅคงๅˆฅใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200024" ; - terms:source ; + + nando:hasNotificationNumber "89" ; + dcterms:description "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆHodgkin lymphoma, HL๏ผ‰ใฏใƒชใƒณใƒ‘็ฏ€ใพใŸใฏไป–ใฎใƒชใƒณใƒ‘ๆ€ง็ต„็น”ใซๅŽŸ็™บใ™ใ‚‹ใƒชใƒณใƒ‘ๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚Šใ€็ต„็น”ๅญฆ็š„ใซReed-Sternberg็ดฐ่ƒžใพใŸใฏใใฎๅค‰็จฎใ‚’ๆœ‰ใ™ใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใ€็—…็†ๅƒใฎ็›ธ้•ใ‹ใ‚‰็ต็ฏ€ๆ€งใƒชใƒณใƒ‘็ƒๅ„ชไฝๅž‹HL (nodular lymphocyte predominance Hodgkin lymphoma: NLPHL)ใจๅคๅ…ธ็š„classical (C) HL [ๆททๅˆๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆmixed cellularity: MCCHL๏ผ‰,็ต็ฏ€ๆ€ง็กฌๅŒ–ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆnodular sclerosis: NSCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒ่ฑŠๅฏŒๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte-rich: LRCHL๏ผ‰, ใƒชใƒณใƒ‘็ƒๆธ›ๅฐ‘ๅž‹ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ๏ผˆlymphocyte depletion: LDCHL๏ผ‰]ใซๅคงๅˆฅใ•ใ‚Œใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200024" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hodgkin lymphoma"@en, "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:label "Hodgkin lymphoma"@en, "ใปใ˜ใใ‚“ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "HL"@en, "Hodgkinใƒชใƒณใƒ‘่…ซ"@ja ; - skos:closeMatch mondo:MONDO_0004952 ; + skos:closeMatch obo:MONDO_0004952 ; skos:prefLabel "ใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ"@ja . -:2200025 - :hasNotificationNumber "91" ; - terms:description "ๆญฃๅธธใƒชใƒณใƒ‘็ต„็น”ใฎๆง‹ๆˆ็ดฐ่ƒžใซ็”ฑๆฅใ—ใŸๆ‚ชๆ€ง่…ซ็˜ใŒๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใงใ‚ใ‚Šใ€ๅคšใใฏใƒชใƒณใƒ‘็ฏ€ๅŽŸ็™บใงใ‚ใ‚‹ใŒใ€ใจใใซ็ธฆ้š”ใ‚„ๆถˆๅŒ–็ฎกใƒป็šฎ่†šใชใฉใฎใƒชใƒณใƒ‘็ฏ€ไปฅๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซใซใ‚ใ‹ใ‚Œใ€ๆœฌ้‚ฆๅฐๅ…ใงใฏๅพŒ่€…ใŒๅœงๅ€’็š„ใซๅคšใ„ใ€‚"@ja ; - terms:identifier "2200025" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:description "ๅฐๅ…ใƒชใƒณใƒ‘่…ซใฏใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ (HL)ใจ้žใƒ›ใ‚ธใ‚ญใƒณใƒชใƒณใƒ‘่…ซ (NHL)ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใŒใ€NHLใฎใ†ใกๅฐ‘ๆ•ฐไพ‹ใงใฏใ‚ใ‚‹ใŒใ€ๆˆ็†ŸB็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ๏ผŒใƒชใƒณใƒ‘่Šฝ็ƒๆ€งใƒชใƒณใƒ‘่…ซ๏ผŒๆœชๅˆ†ๅŒ–ๅคง็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซไปฅๅค–ใฎใ‚‚ใฎใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ใใ‚Œใ‚‰็จ€ใชใƒชใƒณใƒ‘่…ซใฏใ€ใ™ในใฆใ‚’ๅˆ่จˆใ—ใฆใ‚‚ๅฐๅ…ใƒชใƒณใƒ‘่…ซใฎๆ•ฐ%ใงใ‚ใ‚‹ใŒใ€ๆฏ”่ผƒ็š„ใ‚ˆใใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใจใ—ใฆๆˆ็†ŸB็ดฐ่ƒž็”ฑๆฅใงใฏใ€ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ (FL)๏ผŒๅŽŸ็™บๆ€ง็ธฆ้š”ๅคง็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ (PMBCL)ใŒใ‚ใ‚Šใ€ใใฎไป–ๆˆ็†ŸT็ดฐ่ƒžใชใฉใ‚’็”ฑๆฅใจใ™ใ‚‹ใ‚‚ใฎใฏใ€ๆœซๆขขๆ€งT็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹ (PTCL-NOS)ใ€็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ(ENKTL)ใ€่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซใ€ใใ—ใฆ็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200025" ; + dcterms:source ; a owl:Class ; - rdfs:label "18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ"@ja, "Other malignant lymphomas"@en ; + rdfs:label "18ใ‹ใ‚‰22ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ"@ja, "Other malignant lymphomas"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "18ใ‹ใ‚‰22ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒชใƒณใƒ‘่…ซ"@ja . -:2200026 - :hasNotificationNumber "91" ; - terms:identifier "2200026" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:identifier "NANDO:2200026" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pediatric follicular lymphoma"@en, "ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:label "Pediatric follicular lymphoma"@en, "ใ—ใ‚‡ใ†ใซใ‚ใปใ†ใ›ใ„ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "FL"@ja, "PFL"@en ; skos:prefLabel "ๅฐๅ…ๆฟพ่ƒžๆ€งใƒชใƒณใƒ‘่…ซ"@ja . -:2200027 - :hasNotificationNumber "91" ; - terms:identifier "2200027" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:identifier "NANDO:2200027" ; + dcterms:source ; a owl:Class ; - rdfs:label "Extranodal NK/T-cell lymphoma, nasal type"@en, "็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹"@ja ; + rdfs:label "Extranodal NK/T-cell lymphoma, nasal type"@en, "ใ›ใคใŒใ„ใ›ใ„ใˆใฌใ‘ใƒผ/ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…-ใฏใชใŒใŸ"@ja-Hira, "็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019472 ; + rdfs:subClassOf ; + skos:altLabel "ENKTL"@en, "ENKTL"@ja ; + skos:closeMatch obo:MONDO_0019472 ; skos:prefLabel "็ฏ€ๅค–ๆ€งNK/T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ผปๅž‹"@ja . -:2200028 - :hasNotificationNumber "91" ; - terms:identifier "2200028" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:identifier "NANDO:2200028" ; + dcterms:source ; a owl:Class ; - rdfs:label "Peripheral T-cell lymphoma, not otherwise specified"@en, "ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹"@ja ; + rdfs:label "Peripheral T-cell lymphoma, not otherwise specified"@en, "ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…-ใฒใจใใฆใ„ใŒใŸ"@ja-Hira, "ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004964 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004964 ; skos:prefLabel "ๆœซๆขขๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ-้ž็‰นๅฎšๅž‹"@ja . -:2200029 - :hasNotificationNumber "91" ; - terms:identifier "2200029" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:identifier "NANDO:2200029" ; + dcterms:source ; a owl:Class ; - rdfs:label "Angioimmunoblastic T-cell lymphoma"@en, "่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:label "Angioimmunoblastic T-cell lymphoma"@en, "ใ‘ใฃใ‹ใ‚“ใ‚ใ‚“ใˆใใŒใใ‚…ใ†ใ›ใ„ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004977 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004977 ; skos:prefLabel "่ก€็ฎกๅ…็–ซ่Šฝ็ƒๆ€งT็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja . -:2200030 - :hasNotificationNumber "91" ; - terms:identifier "2200030" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:identifier "NANDO:2200030" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sucutaneous panniculitis-like T-cell lymphoma"@en, "็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; + rdfs:label "Sucutaneous panniculitis-like T-cell lymphoma"@en, "ใฒใ‹ใ—ใผใ†ใ—ใใˆใ‚“ใ‚ˆใ†ใฆใƒใƒผใ•ใ„ใผใ†ใ‚Šใ‚“ใฑใ—ใ‚…"@ja-Hira, "็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019475 ; skos:prefLabel "็šฎไธ‹่„‚่‚ช็น”็‚Žๆง˜T็ดฐ่ƒžใƒชใƒณใƒ‘่…ซ"@ja . -:2200031 - :hasNotificationNumber "46" ; - terms:description "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200031" ; - terms:source ; + + nando:hasNotificationNumber "46" ; + dcterms:description "็ต„็น”็ƒ็—‡ใฏใ€ๆจน็Šถ็ดฐ่ƒžใพใŸใฏใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ็”ฑๆฅใ™ใ‚‹ใจ็ดฐ่ƒžๅข—ๆฎ–ใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2016ๅนดใซHistiocyte Societyใ‹ใ‚‰ๆ–ฐใŸใชๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€๏ผ‘๏ผ‰Langerhans-related (L-Group)ใ€2๏ผ‰Cutaneous and mucocutaneous (C-Group)ใ€3๏ผ‰Malignant histiocytosis (M-Group)ใ€4๏ผ‰Rosai-Dorfman diseaseใ€๏ผ•๏ผ‰Hemophagocytic lymphohistiocytosis (H-Group)ใฎ5ๅˆ†้กžใซๅคงๅˆฅใ•ใ‚ŒใŸใ€‚L-Groupใซๅซใพใ‚Œใ‚‹ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใฏ็ต„็น”็ƒ็—‡ใฎไธญใงๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใใ€็ต„็น”็ƒ็—‡ใฏ๏ผ‘๏ผ‰LCHใจ๏ผ’๏ผ‰้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆNon-LCH๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ [1]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200031" ; + dcterms:source ; a owl:Class ; - rdfs:label "Langerhans cell histiocytosis"@en, "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡"@ja ; + rdfs:label "Langerhans cell histiocytosis"@en, "ใ‚‰ใ‚“ใ’ใ‚‹ใฏใ‚“ใ™ใ•ใ„ใผใ†ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "LCH"@en, "Langerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0017025, mondo:MONDO_0017029, mondo:MONDO_0018310, mondo:MONDO_0019450 ; + skos:closeMatch obo:MONDO_0017025, obo:MONDO_0017029, obo:MONDO_0018310 ; skos:prefLabel "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡"@ja . -:2200032 - :hasNotificationNumber "45" ; - terms:description "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200032" ; - terms:source ; + + nando:hasNotificationNumber "45" ; + dcterms:description "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200032" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hemophagocytic lymphohistiocytosis"@en, "่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡"@ja ; + rdfs:label "Hemophagocytic lymphohistiocytosis"@en, "ใ‘ใฃใใ‚…ใ†ใฉใ‚“ใ—ใ‚‡ใใ›ใ„ใ‚Šใ‚“ใฑใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "HLH"@en ; - skos:closeMatch mondo:MONDO_0015540 ; + rdfs:subClassOf ; + skos:altLabel "HLH"@en, "HLH"@ja, "Haemophagocytic lymphohistiocytosis"@en ; + skos:closeMatch obo:MONDO_0015540 ; skos:prefLabel "่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡"@ja . -:2200033 - :hasNotificationNumber "47" ; - terms:description "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200033" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "็ต„็น”็ƒใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็ต„็น”็ƒใฏใ€ๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใงใ‚ใ‚‹ๆจน็Šถ็ดฐ่ƒžใจๆŠ—ๅŽŸ่ฒช้ฃŸ็ดฐ่ƒžใงใ‚ใ‚‹ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซๅคงๅˆฅใ•ใ‚Œใ€ใจใ‚‚ใซ้ชจ้ซ„่ตทๆบใฎ้€ ่ก€ๅนน็ดฐ่ƒžใซ็”ฑๆฅใ™ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆLangerhans็ดฐ่ƒž็ต„็น”็ƒ็—‡๏ผˆLCH๏ผ‰ใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใŒๅข—ๆฎ–ใ™ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใจใ—ใฆ่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆHLH๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใใฎไป–ใฎใพใ‚Œใช็ต„็น”็ƒ็—‡ใจใ—ใฆใ€ๆจน็Šถ็ดฐ่ƒžๆ€ง่…ซ็˜ใจ้žใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž็ต„็น”็ƒ็—‡ใŒใ‚ใ‚Šใ€ๅ‰่€…ใซใฏใ€ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆFollicular dendritic cell sarcoma๏ผšFDCS)ใ€ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ๏ผˆInterdigitating dendritic cell sarcoma๏ผšIDCS)ใ€ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ๏ผˆLangerhans cell sarcoma๏ผšLCS)ใŒใ€ๅพŒ่€…ใซใฏใ€่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ๏ผˆJuvenile xanthogranuloma๏ผšJXG)ใ€ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…๏ผˆErdheim-Chester disease๏ผšECD)ใ€ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…๏ผˆRosai-Dorfman disease๏ผšRDDใ€ๅˆฅๅ๏ผšๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡(Sinus histiocytosis with massive lymphadenopathy)๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200033" ; + dcterms:source ; a owl:Class ; - rdfs:label "24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡"@ja, "Other histiocytosis"@en ; + rdfs:label "24ใŠใ‚ˆใณ25ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ—ใใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡"@ja, "Other histiocytosis"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "24ๅŠใณ25ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ต„็น”็ƒ็—‡"@ja . -:2200034 - :hasNotificationNumber "47" ; - terms:identifier "2200034" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:identifier "NANDO:2200034" ; + dcterms:source ; a owl:Class ; - rdfs:label "Follicular dendritic cell sarcoma"@en, "ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ"@ja ; + rdfs:label "Follicular dendritic cell sarcoma"@en, "ใ‚ใปใ†ใ˜ใ‚…ใ˜ใ‚‡ใ†ใ•ใ„ใผใ†ใซใใ—ใ‚…"@ja-Hira, "ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004380, mondo:MONDO_0005764 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005764 ; skos:prefLabel "ๆฟพ่ƒžๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ"@ja . -:2200035 - :hasNotificationNumber "47" ; - terms:identifier "2200035" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:identifier "NANDO:2200035" ; + dcterms:source ; a owl:Class ; - rdfs:label "Interdigitating dendritic cell sarcoma"@en, "ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ"@ja ; + rdfs:label "Interdigitating dendritic cell sarcoma"@en, "ใ—ใ˜ใ‚‡ใ†ใ‹ใ‚“ใซใ‚…ใ†ใ˜ใ‚…ใ˜ใ‚‡ใ†ใ•ใ„ใผใ†ใซใใ—ใ‚…"@ja-Hira, "ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005813 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005813 ; skos:prefLabel "ๆŒ‡็ŠถๅตŒๅ…ฅๆจน็Šถ็ดฐ่ƒž่‚‰่…ซ"@ja . -:2200036 - :hasNotificationNumber "47" ; - terms:identifier "2200036" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:identifier "NANDO:2200036" ; + dcterms:source ; a owl:Class ; - rdfs:label "Langerhans cell sarcoma"@en, "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ"@ja ; + rdfs:label "Langerhans cell sarcoma"@en, "ใ‚‰ใ‚“ใ’ใ‚‹ใฏใ‚“ใ™ใ•ใ„ใผใ†ใซใใ—ใ‚…"@ja-Hira, "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019480 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019480 ; skos:prefLabel "ใƒฉใƒณใ‚ฒใƒซใƒใƒณใ‚น็ดฐ่ƒž่‚‰่…ซ"@ja . -:2200037 - :hasNotificationNumber "47" ; - terms:identifier "2200037" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:identifier "NANDO:2200037" ; + dcterms:source ; a owl:Class ; - rdfs:label "Juvenile xanthogranuloma"@en, "่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ"@ja ; + rdfs:label "Juvenile xanthogranuloma"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใŠใ†ใ—ใ‚‡ใใซใใ’ใ—ใ‚…"@ja-Hira, "่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015534 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015534 ; skos:prefLabel "่‹ฅๅนดๆ€ง้ป„่‰ฒ่‚‰่Šฝ่…ซ"@ja . -:2200038 - :hasNotificationNumber "47" ; - terms:identifier "2200038" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:identifier "NANDO:2200038" ; + dcterms:source ; a owl:Class ; - rdfs:label "Erdheim-Chester disease"@en, "ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…"@ja ; + rdfs:label "Erdheim-Chester disease"@en, "ใˆใ‚‹ใฉใฏใ„ใ‚€ใƒปใกใ‡ใ™ใŸใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018153 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018153 ; skos:prefLabel "ใ‚จใƒซใƒ‰ใƒใ‚คใƒ ใƒปใƒใ‚งใ‚นใ‚ฟใƒผ็—…"@ja . -:2200039 - :hasNotificationNumber "47" ; - terms:identifier "2200039" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:identifier "NANDO:2200039" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rosai-Dorfman disease"@en, "ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "RDD"@en, "Sinus histiocytosis with massive lymphadenopathy"@en, "ๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡"@ja ; - skos:closeMatch mondo:MONDO_0006412, mondo:MONDO_0011273, mondo:MONDO_0044354 ; + rdfs:label "Rosai-Dorfman disease"@en, "ใ‚ใ•ใ„ใƒปใฉใ‚‹ใตใพใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "RDD"@en, "Sinus histiocytosis with massive lymphadenopathy"@en, "ๅกŠ็Šถใƒชใƒณใƒ‘่…บ็—‡ใ‚’ไผดใ†ๆดž็ต„็น”็ƒๅข—ๅคš็—‡ | Rosai-Dorfman็—…"@ja ; + skos:closeMatch obo:MONDO_0006412, obo:MONDO_0044354 ; skos:prefLabel "ใƒญใ‚ตใ‚คใƒปใƒ‰ใƒซใƒ•ใƒžใƒณ็—…"@ja . -:2200040 - :hasNotificationNumber "20" ; - terms:description "็ฅž็ตŒ่Šฝ่…ซใฏ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญVMA/HVAใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡30๏ฝž40%ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200040" ; - terms:source ; + + nando:hasNotificationNumber "20" ; + dcterms:description "็ฅž็ตŒ่Šฝ่…ซใฏ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญVMA/HVAใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡30๏ฝž40%ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200040" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neuroblastoma"@en, "็ฅž็ตŒ่Šฝ่…ซ"@ja ; + rdfs:label "Neuroblastoma"@en, "ใ—ใ‚“ใ‘ใ„ใŒใ—ใ‚…"@ja-Hira, "็ฅž็ตŒ่Šฝ่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005072 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005072 ; skos:prefLabel "็ฅž็ตŒ่Šฝ่…ซ"@ja . -:2200041 - :hasNotificationNumber "21" ; - terms:description "็ฅž็ตŒ็ฏ€่Šฝ่…ซใฏ็ฅž็ตŒ่Šฝ่…ซ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญ VMA / HVA ใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡ 30 ๏ฝž 40 % ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200041" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "็ฅž็ตŒ็ฏ€่Šฝ่…ซใฏ็ฅž็ตŒ่Šฝ่…ซ็ฅž็ตŒๅ ค๏ผˆneural crest๏ผ‰็”ฑๆฅใฎไบคๆ„Ÿ็ฅž็ตŒ็ณปใฎ็ต„็น”ใงใ‚ใ‚‹ๅ‰ฏ่…Ž้ซ„่ณชใ‚„ไบคๆ„Ÿ็ฅž็ตŒๅนนใ‹ใ‚‰็™บ็”Ÿใ—ใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณใ‚„ใใฎไปฃ่ฌ็”ฃ็‰ฉใ‚’็”ฃ็”Ÿใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€่…ซ็˜ใƒžใƒผใ‚ซใƒผใจใ—ใฆๅฐฟไธญ VMA / HVA ใŒใ—ใฐใ—ใฐ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚่‡ช็„ถ้€€็ธฎใ™ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝไพ‹ใ‹ใ‚‰ใ€ๅผทๅŠ›ใช้›†ๅญฆ็š„ๆฒป็™‚ใ‚’่กŒใฃใฆใ‚‚็”Ÿๅญ˜็Ž‡ 30 ๏ฝž 40 % ใฎ้›ฃๆฒปไพ‹ใพใงๆง˜ใ€…ใช็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200041" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ganglioneuroblastoma"@en, "็ฅž็ตŒ็ฏ€่Šฝ่…ซ"@ja ; + rdfs:label "Ganglioneuroblastoma"@en, "ใ—ใ‚“ใ‘ใ„ใ›ใคใŒใ—ใ‚…"@ja-Hira, "็ฅž็ตŒ็ฏ€่Šฝ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005035 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005035 ; skos:prefLabel "็ฅž็ตŒ็ฏ€่Šฝ่…ซ"@ja . -:2200042 - :hasNotificationNumber "40" ; - terms:description "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€่ƒŽๅ…ๆ€ง็ฅž็ตŒ็ถฒ่†œ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚่…ซ็˜ใŒ็‰‡็œผใฎใฟใซ็™บ็—‡ใ™ใ‚‹็‰‡ๅดๆ€ง๏ผˆunilateral๏ผ‰ใจไธก็œผใซ็™บ็—‡ใ™ใ‚‹ไธก็œผๆ€ง๏ผˆbilateral๏ผ‰ใŒใ‚ใ‚‹ใ€‚็œผ็ƒใซ่…ซ็˜ใ‚’ๅ˜ๆ•ฐ่ชใ‚ใ‚‹ๅ˜ๅทฃๆ€ง(unifocal)ใ€ๅคšๆ•ฐๅŒๆ™‚ใซ่ชใ‚ใ‚‹ๅคšๅทฃๆ€ง(multifocal)ใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใฎๆง˜ๅผใซใ‚ˆใ‚Šใ€้บไผๆ€ง(hereditary)ใ€้ž้บไผๆ€ง(non-hereditary)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€13็•ชๆŸ“่‰ฒไฝ“ใฎ้•ท่…•ใฎใƒใƒณใƒ‰14(13q14)ใซๅญ˜ๅœจใ™ใ‚‹็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ้บไผๅญ(RB1้บไผๅญ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚RB๏ผ‘้บไผๅญใฏใ€ใŒใ‚“ๆŠ‘ๅˆถ้บไผๅญใฎๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸ้บไผๅญใงใ‚ใ‚Šใ€็ดฐ่ƒžๅ‘จๆœŸใฎๅˆถๅพกใ‚’ใฏใ˜ใ‚ใ€็ดฐ่ƒžใฎๅˆ†่ฃ‚ๅข—ๆฎ–ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ€‚2ๅฏพใฎ้บไผๅญใฎๅŒๆ–นใซ็•ฐๅธธใŒใŠใ“ใ‚Šใ€ใใฎๆฉŸ่ƒฝใŒๆฌ ๅคฑใ—ใฆ็™บ็—‡ใซใ„ใŸใ‚‹๏ผˆKnudsonใฎ๏ผ’ใƒ’ใƒƒใƒˆ่ชฌ๏ผ‰ใ€‚้บไผๆ€งไพ‹ใงใฏใ€RB๏ผ‘้บไผๅญ็•ฐๅธธใŒใ€ๅ—็ฒพๆ™‚ใซ่ƒš็ดฐ่ƒžใƒฌใƒ™ใƒซใงใŠใ“ใฃใฆใŠใ‚Š๏ผˆgerm line mutation็”Ÿๆฎ–็ดฐ่ƒž็ณปๅˆ—ๅค‰็•ฐ๏ผ‰ใ€ๅ…จ่บซใฎใ‚ใ‚‰ใ‚†ใ‚‹็ดฐ่ƒžใซ้บไผๅญ็•ฐๅธธใ‚’ใ‚‚ใกใ€ๅพŒใซไบŒๆฌกใŒใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚้ž้บไผๆ€งไพ‹ใงใฏใ€ๅ—็ฒพๅพŒใซไฝ“็ดฐ่ƒžใƒฌใƒ™ใƒซใง้บไผๅญ็•ฐๅธธใ‚’ใŠใ“ใ—๏ผˆsomatic mutation ไฝ“็ดฐ่ƒžๅค‰็•ฐ๏ผ‰็™บ็—‡ใซใ„ใŸใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไบŒๆฌกใŒใ‚“ใฎ็™บ็—‡ใฏไธ€่ˆฌไบบใจๅค‰ใ‚ใ‚Šใชใ„ใ€‚"@ja ; - terms:identifier "2200042" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€่ƒŽๅ…ๆ€ง็ฅž็ตŒ็ถฒ่†œ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚่…ซ็˜ใŒ็‰‡็œผใฎใฟใซ็™บ็—‡ใ™ใ‚‹็‰‡ๅดๆ€ง๏ผˆunilateral๏ผ‰ใจไธก็œผใซ็™บ็—‡ใ™ใ‚‹ไธก็œผๆ€ง๏ผˆbilateral๏ผ‰ใŒใ‚ใ‚‹ใ€‚็œผ็ƒใซ่…ซ็˜ใ‚’ๅ˜ๆ•ฐ่ชใ‚ใ‚‹ๅ˜ๅทฃๆ€ง(unifocal)ใ€ๅคšๆ•ฐๅŒๆ™‚ใซ่ชใ‚ใ‚‹ๅคšๅทฃๆ€ง(multifocal)ใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใฎๆง˜ๅผใซใ‚ˆใ‚Šใ€้บไผๆ€ง(hereditary)ใ€้ž้บไผๆ€ง(non-hereditary)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซใฏใ€13็•ชๆŸ“่‰ฒไฝ“ใฎ้•ท่…•ใฎใƒใƒณใƒ‰14(13q14)ใซๅญ˜ๅœจใ™ใ‚‹็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ้บไผๅญ(RB1้บไผๅญ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚RB๏ผ‘้บไผๅญใฏใ€ใŒใ‚“ๆŠ‘ๅˆถ้บไผๅญใฎๆฆ‚ๅฟตใ‚’็ขบ็ซ‹ใ—ใŸ้บไผๅญใงใ‚ใ‚Šใ€็ดฐ่ƒžๅ‘จๆœŸใฎๅˆถๅพกใ‚’ใฏใ˜ใ‚ใ€็ดฐ่ƒžใฎๅˆ†่ฃ‚ๅข—ๆฎ–ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ€‚2ๅฏพใฎ้บไผๅญใฎๅŒๆ–นใซ็•ฐๅธธใŒใŠใ“ใ‚Šใ€ใใฎๆฉŸ่ƒฝใŒๆฌ ๅคฑใ—ใฆ็™บ็—‡ใซใ„ใŸใ‚‹๏ผˆKnudsonใฎ๏ผ’ใƒ’ใƒƒใƒˆ่ชฌ๏ผ‰ใ€‚้บไผๆ€งไพ‹ใงใฏใ€RB๏ผ‘้บไผๅญ็•ฐๅธธใŒใ€ๅ—็ฒพๆ™‚ใซ่ƒš็ดฐ่ƒžใƒฌใƒ™ใƒซใงใŠใ“ใฃใฆใŠใ‚Š๏ผˆgerm line mutation็”Ÿๆฎ–็ดฐ่ƒž็ณปๅˆ—ๅค‰็•ฐ๏ผ‰ใ€ๅ…จ่บซใฎใ‚ใ‚‰ใ‚†ใ‚‹็ดฐ่ƒžใซ้บไผๅญ็•ฐๅธธใ‚’ใ‚‚ใกใ€ๅพŒใซไบŒๆฌกใŒใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚้ž้บไผๆ€งไพ‹ใงใฏใ€ๅ—็ฒพๅพŒใซไฝ“็ดฐ่ƒžใƒฌใƒ™ใƒซใง้บไผๅญ็•ฐๅธธใ‚’ใŠใ“ใ—๏ผˆsomatic mutation ไฝ“็ดฐ่ƒžๅค‰็•ฐ๏ผ‰็™บ็—‡ใซใ„ใŸใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ไบŒๆฌกใŒใ‚“ใฎ็™บ็—‡ใฏไธ€่ˆฌไบบใจๅค‰ใ‚ใ‚Šใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200042" ; + dcterms:source ; a owl:Class ; - rdfs:label "Retinoblastoma"@en, "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Retinoblastoma"@en, "ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008380 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008380 ; skos:prefLabel "็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ"@ja . -:2200043 - :hasNotificationNumber "5" ; - terms:description "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200043" ; - terms:source ; - a owl:Class ; - rdfs:label "Wilms tumour"@en, "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Nephroblastoma"@en, "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜"@ja, "่…Ž่Šฝ่…ซ"@ja ; - skos:closeMatch mondo:MONDO_0008679, mondo:MONDO_0019004 ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200043" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Wilms tumour"@en, "ใ†ใƒใ‚‹ใ‚€ใ™ใ—ใ‚…ใ‚ˆใ†๏ผใ˜ใ‚“ใŒใ—ใ‚…"@ja-Hira, "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Nephroblastoma"@en, "Wilms่…ซ็˜"@ja, "่…Ž่Šฝ่…ซ"@ja ; + skos:closeMatch obo:MONDO_0019004 ; skos:prefLabel "ใ‚ฆใ‚ฃใƒซใƒ ใ‚น่…ซ็˜๏ผ่…Ž่Šฝ่…ซ"@ja . -:2200044 - :hasNotificationNumber "23" ; - terms:description "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200044" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200044" ; + dcterms:source ; a owl:Class ; - rdfs:label "Clear cell sarcoma of the kidney"@en, "่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ"@ja ; + rdfs:label "Clear cell sarcoma of the kidney"@en, "ใ˜ใ‚“ใ‚ใ„ใ•ใ„ใผใ†ใซใใ—ใ‚…"@ja-Hira, "่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005006 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005006 ; skos:prefLabel "่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ"@ja . -:2200045 - :hasNotificationNumber "22" ; - terms:description "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200045" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฐๅ…ใฎ่…ŽๅŽŸ็™บๆ‚ชๆ€ง่…ซ็˜ใงๆœ€ใ‚‚ๅคšใ„ใฎใฏ่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใง75๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใงใฏ็ฅž็ตŒ่Šฝ่…ซ็˜ใซๆฌกใ„ใง็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใใ€ๆœฌ้‚ฆใงใฏๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšๆ‚ชๆ€ง่…ซ็˜ๅง”ๅ“กไผšใฎ้›†่จˆใซใฆๆฏŽๅนด็ด„50ไพ‹ใŒ็™ป้Œฒใ•ใ‚ŒใฆใŠใ‚Šๅนด้–“็™บ็”Ÿ้ ปๅบฆใฏ็ด„100ไพ‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎๅ›บๅฝข่…ซ็˜ใจๅŒๆง˜ใ€ๅคšๆ–ฝ่จญๅ…ฑๅŒ็ ”็ฉถใซใ‚ˆใ‚‹้›†ๅญฆ็š„ๆฒป็™‚ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ๆฒป็™‚ๆˆ็ธพใฏๅ‘ไธŠใ—ใ€่…Ž่Šฝ่…ซๅ…จไฝ“ใฎๆฒป็™‚ๆˆ็ธพใฏ5ๅนด็”Ÿๅญ˜็Ž‡ใง90๏ผ…่ฟ‘ใใพใงๅ‘ไธŠใ—ใฆใ„ใ‚‹ใŒใ€anaplasiaใ‚’ๆœ‰ใ™ใ‚‹่…Ž่Šฝ่…ซใ‚„่…Žใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(Rhabdoid tumor of the kidney, RTK)ใ€่…Žๆ˜Ž็ดฐ่ƒž่‚‰่…ซ๏ผˆClear cell sarcoma of the kidney, CCSK๏ผ‰ใชใฉใ€ใ„ใ‚ใ‚†ใ‚‹ๆ‚ชๆ€งใฎ็ต„็น”ๅž‹๏ผˆunfavorable histology; UH๏ผ‰ใซๅฑžใ™ใ‚‹ใ‚‚ใฎใฎไธญใซใฏๆฅตใ‚ใฆไบˆๅพŒไธ่‰ฏใฎ็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€ๆฒป็™‚ใ‚’่กŒใ†ใซใ‚ใŸใฃใฆใฏใ€็—…็†่จบๆ–ญใŒ้žๅธธใซ้‡่ฆใชไธ€ใ‚’ๅ ใ‚ใ‚‹ใ€‚่…Ž่Šฝ่…ซใฎ็ด„๏ผ•๏ผ…ใŒไธกๅดๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใŒใ€ไธกๅดๆ€ง่…ซ็˜ใงใฏใ„ใ‹ใซ่…ŽๆฉŸ่ƒฝใ‚’ๆธฉๅญ˜ใ—ใฆๆฒป็™’ใ›ใ—ใ‚ใ‚‹ใ‹ใŒๅ•้กŒใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200045" ; + dcterms:source ; a owl:Class ; - rdfs:label "Renal cell carcinoma"@en, "่…Ž็ดฐ่ƒž็™Œ"@ja ; + rdfs:label "Renal cell carcinoma"@en, "ใ˜ใ‚“ใ•ใ„ใผใ†ใŒใ‚“"@ja-Hira, "่…Ž็ดฐ่ƒž็™Œ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005086, mondo:MONDO_0005549 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005086, obo:MONDO_0005549 ; skos:prefLabel "่…Ž็ดฐ่ƒž็™Œ"@ja . -:2200046 - :hasNotificationNumber "9" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200046" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200046" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hepatoblastoma"@en, "่‚่Šฝ่…ซ"@ja ; + rdfs:label "Hepatoblastoma"@en, "ใ‹ใ‚“ใŒใ—ใ‚…"@ja-Hira, "่‚่Šฝ่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007256, mondo:MONDO_0018666 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018666 ; skos:prefLabel "่‚่Šฝ่…ซ"@ja . -:2200047 - :hasNotificationNumber "10" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200047" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๅฐๅ…ใฎ่‚ใซใงใใ‚‹ๅŽŸ็™บๆ€งๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ€่‚ใฎ่…ซ็˜ๆ€ง็—…ๅค‰ใฎไธญใง๏ผ“ๅ‰ฒๅผฑใ‚’ๅ ใ‚ใ‚‹้Ž่ชค่…ซใ€่ก€็ฎก่…ซใ€่ก€็ฎกๅ†…็šฎ่…ซใ€ๅฅ‡ๅฝข่…ซใชใฉใฎ่‰ฏๆ€ง่…ซ็˜ใ‚„ใ€ใพใŸใ€่‚ๆ‚ชๆ€ง่…ซ็˜ใฎไธญใงใ‚‚่ปข็งปๆ€ง่…ซ็˜ใฏๆœฌ็–พๆ‚ฃใซใฏๅซใ‚ใชใ„ใ€‚ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใจ้žไธŠ็šฎๆ€ง่…ซ็˜ใซๅˆ†ใ‹ใ‚Œใ€ใใฎ9ๅ‰ฒไปฅไธŠใฏไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใงใ‚ใ‚‹ใ€‚ไธŠ็šฎๆ€งใฎๅฐๅ…่‚ใŒใ‚“ใฏๅฐๅ…ๆ‚ชๆ€งๅ›บๅฝข่…ซ็˜ใฎ3~4๏ผ…ใ‚’ๅ ใ‚ใ€ใใฎ8ๅ‰ฒไปฅไธŠใฏๅฐๅ…็‰นๆœ‰ใฎ่‚่Šฝ่…ซใงใ€ไธ€้ƒจใŒ่‚็ดฐ่ƒž็™Œ๏ผˆๆˆไบบๅž‹่‚็™Œ๏ผ‰ใงใ€็จ€ใช่…ซ็˜ใจใ—ใฆ่‚ๅ†…่ƒ†็ฎก็™ŒใŒใ‚ใ‚‹ใ€‚้žไธŠ็šฎๆ€ง่‚ๆ‚ชๆ€ง่…ซ็˜ใจใ—ใฆใฏใ€่ก€็ฎกๅ†…็šฎ่…ซใ€่ก€็ฎก่‚‰่…ซใ€ๆœชๅˆ†ๅŒ–่‚‰่…ซใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ€ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉใŒใ‚ใ‚‹ใŒใ„ใฅใ‚Œใ‚‚็จ€ใช่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200047" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hepatocellular carcinoma"@en, "่‚็ดฐ่ƒž็™Œ"@ja ; + rdfs:label "Hepatocellular carcinoma"@en, "ใ‹ใ‚“ใ•ใ„ใผใ†ใŒใ‚“"@ja-Hira, "่‚็ดฐ่ƒž็™Œ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007256 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007256 ; skos:prefLabel "่‚็ดฐ่ƒž็™Œ"@ja . -:2200048 - :hasNotificationNumber "15" ; - terms:description "้ชจ่‚‰่…ซ๏ผˆosteosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจใ‚’ๅฝขๆˆใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่ก€็ฎกๆ‹กๅผตๅž‹้ชจ่‚‰่…ซ๏ผŒๅฐ็ดฐ่ƒžๅž‹้ชจ่‚‰่…ซ๏ผŒไฝŽๆ‚ชๆ€งๅบฆไธญๅฟƒๆ€ง้ชจ่‚‰่…ซ๏ผŒๆ”พๅฐ„็ทš็…งๅฐ„ๅพŒใ‚„Paget็—…ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€ง้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใฏ็ต„็น”ๅญฆ็š„ใซosteoblastic type๏ผŒchondroblastic type๏ผŒfibroblastic typeใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ"@ja ; - terms:identifier "2200048" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "้ชจ่‚‰่…ซ๏ผˆosteosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจใ‚’ๅฝขๆˆใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่ก€็ฎกๆ‹กๅผตๅž‹้ชจ่‚‰่…ซ๏ผŒๅฐ็ดฐ่ƒžๅž‹้ชจ่‚‰่…ซ๏ผŒไฝŽๆ‚ชๆ€งๅบฆไธญๅฟƒๆ€ง้ชจ่‚‰่…ซ๏ผŒๆ”พๅฐ„็ทš็…งๅฐ„ๅพŒใ‚„Paget็—…ใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€ง้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹้ชจ่‚‰่…ซใฏ็ต„็น”ๅญฆ็š„ใซosteoblastic type๏ผŒchondroblastic type๏ผŒfibroblastic typeใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200048" ; + dcterms:source ; a owl:Class ; - rdfs:label "Osteosarcoma"@en, "้ชจ่‚‰่…ซ"@ja ; + rdfs:label "Osteosarcoma"@en, "ใ“ใคใซใใ—ใ‚…"@ja-Hira, "้ชจ่‚‰่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002623, mondo:MONDO_0009807 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002623, obo:MONDO_0009807 ; skos:prefLabel "้ชจ่‚‰่…ซ"@ja . -:2200049 - :hasNotificationNumber "14" ; - terms:description "้ชจ่ปŸ้ชจ่…ซ๏ผˆosteochondroma๏ผ‰ใจใฏ้•ท็ฎก้ชจใฎๆˆ้•ท่ปŸ้ชจๅ‘จๅ›ฒใซ็™บ็”Ÿใ™ใ‚‹่ปŸ้ชจๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚Š๏ผŒ้ชจใฎๅค–ๅดใซๅ‘ใ‹ใฃใฆ้š†่ตทๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ“ใจใ‹ใ‚‰ๅค–้ชจ่…ซ๏ผˆexostosis๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผŽ็•ฐๆ‰€ๆ€งใซๆˆ้•ท่ปŸ้ชจๆง˜่ปŸ้ชจ็ดฐ่ƒž้›†ๅ›ฃใŒ็™บ็”Ÿใ—๏ผŒๆˆ้•ทใซไผดใฃใฆๆˆ้•ท่ปŸ้ชจใจๅŒๆง˜ใซ่ปŸ้ชจๅข—ๆฎ–ใจ่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ่ตทใใ‚‹ใŸใ‚๏ผŒใใฎๅ…ˆ็ซฏใซ่ปŸ้ชจๅธฝใจใ‚ˆใฐใ‚Œใ‚‹่ปŸ้ชจ็ต„็น”ใ‚’ๆœ‰ใ™ใ‚‹้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹๏ผŽๅ…ธๅž‹็š„ใชๅ˜็ด”X็ทšๅƒใฏ้•ท็ฎก้ชจ้ชจ็ซฏๅ‘จๅ›ฒใฎ้ชจใจใฎ้€ฃ็ถšๆ€งใ‚’ๆœ‰ใ™ใ‚‹ๆœ‰่ŒŽๆ€งใพใŸใฏๅบƒๅŸบๆ€งใฎ้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใงใ‚ใ‚‹๏ผŽ่ปŸ้ชจๅธฝใฏๅ˜็ด”X็ทšใงใฏๅŒๅฎšใงใใชใ„ใŒ๏ผŒ็Ÿณ็ฐๅŒ–ใซใ‚ˆใ‚Š็ขบ่ชใงใใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ชจ่ปŸ้ชจ่…ซใฏๅ˜็™บๆ€ง๏ผŒๅคš็™บๆ€งใŒใ‚ใ‚‹๏ผŽๅ˜็™บๆ€งใฏ้€šๅธธๅญค็™บๆ€งใงใ‚ใ‚Š๏ผŒๅคš็™บๆ€งใฏ90%ใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹๏ผŽๅฎถๆ—ๆ€งใซ็™บ็”Ÿใ™ใ‚‹ๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚’ๅ…ˆๅคฉๆ€งๅคš็™บๆ€งๅค–้ชจ่…ซ๏ผˆhereditary multiple exostosis: HME๏ผ‰ใจๅ‘ผใถ๏ผŽ"@ja ; - terms:identifier "2200049" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "้ชจ่ปŸ้ชจ่…ซ๏ผˆosteochondroma๏ผ‰ใจใฏ้•ท็ฎก้ชจใฎๆˆ้•ท่ปŸ้ชจๅ‘จๅ›ฒใซ็™บ็”Ÿใ™ใ‚‹่ปŸ้ชจๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚Š๏ผŒ้ชจใฎๅค–ๅดใซๅ‘ใ‹ใฃใฆ้š†่ตทๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ“ใจใ‹ใ‚‰ๅค–้ชจ่…ซ๏ผˆexostosis๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผŽ็•ฐๆ‰€ๆ€งใซๆˆ้•ท่ปŸ้ชจๆง˜่ปŸ้ชจ็ดฐ่ƒž้›†ๅ›ฃใŒ็™บ็”Ÿใ—๏ผŒๆˆ้•ทใซไผดใฃใฆๆˆ้•ท่ปŸ้ชจใจๅŒๆง˜ใซ่ปŸ้ชจๅข—ๆฎ–ใจ่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ่ตทใใ‚‹ใŸใ‚๏ผŒใใฎๅ…ˆ็ซฏใซ่ปŸ้ชจๅธฝใจใ‚ˆใฐใ‚Œใ‚‹่ปŸ้ชจ็ต„็น”ใ‚’ๆœ‰ใ™ใ‚‹้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใŒ็”Ÿใ˜ใ‚‹๏ผŽๅ…ธๅž‹็š„ใชๅ˜็ด”X็ทšๅƒใฏ้•ท็ฎก้ชจ้ชจ็ซฏๅ‘จๅ›ฒใฎ้ชจใจใฎ้€ฃ็ถšๆ€งใ‚’ๆœ‰ใ™ใ‚‹ๆœ‰่ŒŽๆ€งใพใŸใฏๅบƒๅŸบๆ€งใฎ้ชจๆ€ง้š†่ตทๆ€ง็—…ๅค‰ใงใ‚ใ‚‹๏ผŽ่ปŸ้ชจๅธฝใฏๅ˜็ด”X็ทšใงใฏๅŒๅฎšใงใใชใ„ใŒ๏ผŒ็Ÿณ็ฐๅŒ–ใซใ‚ˆใ‚Š็ขบ่ชใงใใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ชจ่ปŸ้ชจ่…ซใฏๅ˜็™บๆ€ง๏ผŒๅคš็™บๆ€งใŒใ‚ใ‚‹๏ผŽๅ˜็™บๆ€งใฏ้€šๅธธๅญค็™บๆ€งใงใ‚ใ‚Š๏ผŒๅคš็™บๆ€งใฏ90%ใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹๏ผŽๅฎถๆ—ๆ€งใซ็™บ็”Ÿใ™ใ‚‹ๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚’ๅ…ˆๅคฉๆ€งๅคš็™บๆ€งๅค–้ชจ่…ซ๏ผˆhereditary multiple exostosis: HME๏ผ‰ใจๅ‘ผใถ๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200049" ; + dcterms:source ; a owl:Class ; - rdfs:label "Osteochondromatosis"@en, "้ชจ่ปŸ้ชจ่…ซ็—‡"@ja ; + rdfs:label "Osteochondromatosis"@en, "ใ“ใคใชใ‚“ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "้ชจ่ปŸ้ชจ่…ซ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005508, mondo:MONDO_0007585, mondo:MONDO_0008145 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005508, obo:MONDO_0008145 ; skos:prefLabel "้ชจ่ปŸ้ชจ่…ซ็—‡"@ja . -:2200050 - :hasNotificationNumber "32" ; - terms:description "่ปŸ้ชจ่‚‰่…ซ๏ผˆchondrosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใ‚’ไผดใ†ใŒ๏ผŒ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’ไผดใ‚ใชใ„ๆ‚ชๆ€ง้ชจ่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใจ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใฏ้ชจ่‚‰่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผ‰๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่„ฑๅˆ†ๅŒ–ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒ้–“่‘‰ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒๆทกๆ˜Ž็ดฐ่ƒžๅž‹่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใฏ็ดฐ่ƒžๅฏ†ๅบฆใ‚„ๆ ธ็•ฐๅž‹๏ผŒ้ชจๆขใธใฎๆตธๆฝคใชใฉใฎๆ‰€่ฆ‹ใ‹ใ‚‰ไฝŽๆ‚ชๆ€งๅบฆใฎgrade 1๏ผŒ้ซ˜ๆ‚ชๆ€งๅบฆใฎgrade 2๏ผŒgrade 3ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใซใฏ๏ผŒๅŽŸ็™บๆ€ง่ปŸ้ชจ่‚‰่…ซใจๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚„ๅคš็™บๆ€งๅ†…่ปŸ้ชจ่…ซใชใฉใฎๅ…ˆ่กŒ็—…ๅค‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไบŒๆฌกๆ€ง่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200050" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "่ปŸ้ชจ่‚‰่…ซ๏ผˆchondrosarcoma๏ผ‰ใฏ๏ผŒ็ต„็น”ๅญฆ็š„ใซ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใ‚’ไผดใ†ใŒ๏ผŒ่…ซ็˜ๆ€งใฎ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’ไผดใ‚ใชใ„ๆ‚ชๆ€ง้ชจ่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆ่…ซ็˜ๆ€งใฎ่ปŸ้ชจๅฝขๆˆใจ้กž้ชจใƒป้ชจๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใฏ้ชจ่‚‰่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผ‰๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใŒๆœ€ใ‚‚ไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใŒ๏ผŒ้ ปๅบฆใฎไฝŽใ„ไบœๅž‹ใจใ—ใฆ่„ฑๅˆ†ๅŒ–ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒ้–“่‘‰ๅž‹่ปŸ้ชจ่‚‰่…ซ๏ผŒๆทกๆ˜Ž็ดฐ่ƒžๅž‹่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใฏ็ดฐ่ƒžๅฏ†ๅบฆใ‚„ๆ ธ็•ฐๅž‹๏ผŒ้ชจๆขใธใฎๆตธๆฝคใชใฉใฎๆ‰€่ฆ‹ใ‹ใ‚‰ไฝŽๆ‚ชๆ€งๅบฆใฎgrade 1๏ผŒ้ซ˜ๆ‚ชๆ€งๅบฆใฎgrade 2๏ผŒgrade 3ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ้€šๅธธๅž‹่ปŸ้ชจ่‚‰่…ซใซใฏ๏ผŒๅŽŸ็™บๆ€ง่ปŸ้ชจ่‚‰่…ซใจๅคš็™บๆ€ง้ชจ่ปŸ้ชจ่…ซใ‚„ๅคš็™บๆ€งๅ†…่ปŸ้ชจ่…ซใชใฉใฎๅ…ˆ่กŒ็—…ๅค‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไบŒๆฌกๆ€ง่ปŸ้ชจ่‚‰่…ซใŒใ‚ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200050" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chondrosarcoma"@en, "่ปŸ้ชจ่‚‰่…ซ"@ja ; + rdfs:label "Chondrosarcoma"@en, "ใชใ‚“ใ“ใคใซใใ—ใ‚…"@ja-Hira, "่ปŸ้ชจ่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008977 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008977 ; skos:prefLabel "่ปŸ้ชจ่‚‰่…ซ"@ja . -:2200051 - :hasNotificationNumber "31" ; - terms:description "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ๏ผˆchondroblastoma๏ผ‰ใฏ๏ผŒๅฐๅ…ใฎ้•ท็ฎก้ชจ้ชจ็ซฏ้ƒจใซๅฅฝ็™บใ™ใ‚‹่ปŸ้ชจๅฝขๆˆๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚‹๏ผŽ็ต„็น”ๅญฆ็š„ใซใฏ็ ด้ชจ็ดฐ่ƒžๅž‹ๅคšๆ ธๅทจ็ดฐ่ƒžใจๅ††ๅฝขใพใŸใฏๅคš่ง’ๅฝขใฎ่ปŸ้ชจ่Šฝ็ดฐ่ƒžๆง˜็ดฐ่ƒžใงๆง‹ๆˆใ•ใ‚Œใ‚‹็ดฐ่ƒžๅฏ†ๅบฆใฎ้ซ˜ใ„ๆฏ”่ผƒ็š„ๆœชๅˆ†ๅŒ–ใช็ต„็น”ใ‚’็‰นๅพดใจใ—๏ผŒ็Ÿณ็ฐๅŒ–ๅทฃใ‚’ไผดใฃใŸ่ปŸ้ชจๆ€งใฎ้–“่ณชใ‚’ไผดใ†่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ"@ja ; - terms:identifier "2200051" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ๏ผˆchondroblastoma๏ผ‰ใฏ๏ผŒๅฐๅ…ใฎ้•ท็ฎก้ชจ้ชจ็ซฏ้ƒจใซๅฅฝ็™บใ™ใ‚‹่ปŸ้ชจๅฝขๆˆๆ€งใฎ่‰ฏๆ€ง้ชจ่…ซ็˜ใงใ‚ใ‚‹๏ผŽ็ต„็น”ๅญฆ็š„ใซใฏ็ ด้ชจ็ดฐ่ƒžๅž‹ๅคšๆ ธๅทจ็ดฐ่ƒžใจๅ††ๅฝขใพใŸใฏๅคš่ง’ๅฝขใฎ่ปŸ้ชจ่Šฝ็ดฐ่ƒžๆง˜็ดฐ่ƒžใงๆง‹ๆˆใ•ใ‚Œใ‚‹็ดฐ่ƒžๅฏ†ๅบฆใฎ้ซ˜ใ„ๆฏ”่ผƒ็š„ๆœชๅˆ†ๅŒ–ใช็ต„็น”ใ‚’็‰นๅพดใจใ—๏ผŒ็Ÿณ็ฐๅŒ–ๅทฃใ‚’ไผดใฃใŸ่ปŸ้ชจๆ€งใฎ้–“่ณชใ‚’ไผดใ†่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200051" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chondroblastoma"@en, "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Chondroblastoma"@en, "ใชใ‚“ใ“ใคใŒใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004997 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004997 ; skos:prefLabel "่ปŸ้ชจ่Šฝ็ดฐ่ƒž่…ซ"@ja . -:2200052 - :hasNotificationNumber "3" ; - terms:description "้ชจๅทจ็ดฐ่ƒž่…ซ๏ผˆgiant cell tumor of bone๏ผšGCT of bone๏ผ‰ใฏ้กžๅ††ๅฝขใฎๅ˜ๆ ธ่…ซ็˜็ดฐ่ƒžใจๆ•ฃๅœจใ™ใ‚‹ๅคงๅž‹ใฎ็ ด้ชจ็ดฐ่ƒžๆง˜ๅทจ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽใพใ‚Œใซ้ชจๅทจ็ดฐ่ƒž่…ซๅ†…ใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒไฝตๅญ˜ใ—ใŸใ‚Š๏ผˆไธ€ๆฌกๆ€ง๏ผ‰๏ผŒไปฅๅ‰ๅ…ธๅž‹็š„ใช้ชจๅทจ็ดฐ่ƒž่…ซใŒๅญ˜ๅœจใ—ใŸ้ƒจไฝใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒ็™บ็”Ÿใ™ใ‚‹๏ผˆไบŒๆฌกๆ€ง๏ผ‰ใ“ใจใŒใ‚ใ‚Š๏ผŒๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใ‚‹๏ผŽๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใฎๅคง้ƒจๅˆ†ใฏไบŒๆฌกๆ€งใงใ‚ใ‚Š๏ผŒใใฎๅคšใใฏๆ”พๅฐ„็ทšๆฒป็™‚ๅพŒใซ็™บ็”Ÿใ—ใŸใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ2013ๅนด็‰ˆใฎWHOๅˆ†้กžใงใฏไธก่€…ใฏโ€œMalignancy in GCTโ€ใจ็ท็งฐใ•ใ‚ŒใŸ๏ผŽ"@ja ; - terms:identifier "2200052" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "้ชจๅทจ็ดฐ่ƒž่…ซ๏ผˆgiant cell tumor of bone๏ผšGCT of bone๏ผ‰ใฏ้กžๅ††ๅฝขใฎๅ˜ๆ ธ่…ซ็˜็ดฐ่ƒžใจๆ•ฃๅœจใ™ใ‚‹ๅคงๅž‹ใฎ็ ด้ชจ็ดฐ่ƒžๆง˜ๅทจ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽใพใ‚Œใซ้ชจๅทจ็ดฐ่ƒž่…ซๅ†…ใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒไฝตๅญ˜ใ—ใŸใ‚Š๏ผˆไธ€ๆฌกๆ€ง๏ผ‰๏ผŒไปฅๅ‰ๅ…ธๅž‹็š„ใช้ชจๅทจ็ดฐ่ƒž่…ซใŒๅญ˜ๅœจใ—ใŸ้ƒจไฝใซ้ซ˜ๆ‚ชๆ€งๅบฆ่‚‰่…ซใŒ็™บ็”Ÿใ™ใ‚‹๏ผˆไบŒๆฌกๆ€ง๏ผ‰ใ“ใจใŒใ‚ใ‚Š๏ผŒๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใ‚‹๏ผŽๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซใฎๅคง้ƒจๅˆ†ใฏไบŒๆฌกๆ€งใงใ‚ใ‚Š๏ผŒใใฎๅคšใใฏๆ”พๅฐ„็ทšๆฒป็™‚ๅพŒใซ็™บ็”Ÿใ—ใŸใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ2013ๅนด็‰ˆใฎWHOๅˆ†้กžใงใฏไธก่€…ใฏโ€œMalignancy in GCTโ€ใจ็ท็งฐใ•ใ‚ŒใŸ๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200052" ; + dcterms:source ; a owl:Class ; - rdfs:label "Malignancy in giant cell tumour of bone"@en, "ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Malignancy in giant cell tumour of bone"@en, "ใ‚ใใ›ใ„ใ“ใคใใ‚‡ใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006287 ; skos:prefLabel "ๆ‚ชๆ€ง้ชจๅทจ็ดฐ่ƒž่…ซ"@ja . -:2200053 - :hasNotificationNumber "41" ; - terms:description "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200053" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "Ewing่‚‰่…ซ (Ewing Sarcoma)ใฏใ€ไธปใซๅฐๅ…ใ‹ใ‚‰่‹ฅๅนดๆˆไบบใซๅคšใ็™บ็—‡ใ™ใ‚‹้ชจ่ปŸ้ƒจ่‚‰่…ซใงใ‚ใ‚‹ใ€‚1921ๅนดใ€James Ewingใซใ‚ˆใ‚Šใ€้ชจ่‚‰่…ซใจใฏ็—…็†ๅญฆ็š„ใซๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใ‚‹้ชจๅŽŸ็™บใฎๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ“ใฎ้ชจๅŽŸ็™บใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ€้ชจๅค–ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใ€ๆœซๆขขๆ€งๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor; pPNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅพŒใซ็—…็†ๅญฆ็š„ใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing sarcoma family of tumors, ESFT)ใจ็งฐใ•ใ‚Œใ‚‹ใ€‚ESFTใฏใ€FET้บไผๅญใƒ•ใ‚กใƒŸใƒชใƒผ๏ผˆTLS/FUS, EWS(EWSR1), TAF15ใชใฉ๏ผ‰ใจETS้บไผๅญใƒ•ใ‚กใƒŸใƒชใƒผ๏ผˆFLI1, ERG, ETV1ใชใฉ๏ผ‰ใŒ่žๅˆใ—ใŸใ‚ญใƒกใƒฉ้บไผๅญใ‚’ใ‚‚ใกใ€ใใฎๅ†…่จณใฏEWS-FLI1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1(<1%)ใ€EWS-FEV(<1%)ใ€ใใฎไป–ใจใชใฃใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200053" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ewing's sarcoma"@en, "ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ"@ja ; + rdfs:label "Ewing's sarcoma"@en, "ใ‚†ใƒผใ„ใ‚“ใใซใใ—ใ‚…"@ja-Hira, "ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Ewing่‚‰่…ซ"@ja ; - skos:closeMatch mondo:MONDO_0012817 ; + rdfs:subClassOf ; + skos:altLabel "Ewing sarcoma"@en, "Ewing่‚‰่…ซ"@ja ; + skos:closeMatch obo:MONDO_0012817 ; skos:prefLabel "ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซ"@ja . -:2200054 - :hasNotificationNumber "36" ; - terms:description "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200054" ; - terms:source ; + + nando:hasNotificationNumber "36" ; + dcterms:description "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200054" ; + dcterms:source ; a owl:Class ; - rdfs:label "primitive neuroectodermal tumors"@en, "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja ; + rdfs:label "Primitive neuroectodermal tumors"@en, "ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฎใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆๆœซๆขขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018271 ; + skos:prefLabel "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆๆœซๆขขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200055 - :hasNotificationNumber "36" ; - terms:identifier "2200055" ; - terms:source ; + + nando:hasNotificationNumber "36" ; + dcterms:identifier "NANDO:2200055" ; + dcterms:source ; a owl:Class ; - rdfs:label "Peripheral primitive neuroectodermal tumors"@en, "ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja ; + rdfs:label "Peripheral primitive neuroectodermal tumors"@en, "ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018271 ; skos:prefLabel "ๆœซๆขขๆ€งๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja . -:2200056 - :hasNotificationNumber "6" ; - terms:description "ๅฐ†ๆฅ้ชจๆ ผ็ญ‹ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ‚ชๆ€ง่ปขๅŒ–ๅพŒใซ้ชจๆ ผ็ญ‹ๅˆ†ๅŒ–่ƒฝใ‚’็™บ็พใ—ใŸ่ƒŽๅ…ใฎไธญ่ƒš่‘‰ใพใŸใฏ้–“่‘‰็ต„็น”ใซ็”ฑๆฅใ™ใ‚‹ใ€้ชจๆ ผ็ญ‹ใฎๅฝข่ณชใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200056" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅฐ†ๆฅ้ชจๆ ผ็ญ‹ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€ใ‚ใ‚‹ใ„ใฏใ€ๆ‚ชๆ€ง่ปขๅŒ–ๅพŒใซ้ชจๆ ผ็ญ‹ๅˆ†ๅŒ–่ƒฝใ‚’็™บ็พใ—ใŸ่ƒŽๅ…ใฎไธญ่ƒš่‘‰ใพใŸใฏ้–“่‘‰็ต„็น”ใซ็”ฑๆฅใ™ใ‚‹ใ€้ชจๆ ผ็ญ‹ใฎๅฝข่ณชใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200056" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rhabdomyosarcoma"@en, "ๆจช็ด‹็ญ‹่‚‰่…ซ"@ja ; + rdfs:label "Rhabdomyosarcoma"@en, "ใŠใ†ใ‚‚ใ‚“ใใ‚“ใซใใ—ใ‚…"@ja-Hira, "ๆจช็ด‹็ญ‹่‚‰่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005212 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005212 ; skos:prefLabel "ๆจช็ด‹็ญ‹่‚‰่…ซ"@ja . -:2200057 - :hasNotificationNumber "4" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏไธปใซ่…Žใ€่‚ใ€่ปŸ้ƒจ็ต„็น”ใ€ไธญๆžข็ฅž็ตŒใชใฉไฝ“ใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใจ่…Žใชใฉ่ค‡ๆ•ฐใซๅŒๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใ„ใฃใŸ็—…ๆ…‹ใซใคใ„ใฆใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚1978ๅนดใซBeckwithใ‚‰ใซใ‚ˆใฃใฆใ€ๅฐๅ…่…Ž่…ซ็˜ใฎไธญใงไบˆๅพŒไธ่‰ฏๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œmalignant rhabdoid tumor of the kidneyใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€ๆ—ฅๆœฌใงใฏๆ‚ชๆ€งๆจช็ด‹็ญ‹่‚‰่…ซๆง˜่…ซ็˜ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ•ใ‚Œใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€้กžๅ††ๅฝขใฎ่…ซๅคงใ—ใŸๆ ธใจ็ดฐ่ƒž่ณชใซๅฅฝ้…ธๆ€ง็ดฐ่ƒž่ณชๅฐๅ…ฅไฝ“ใ‚’ๆœ‰ใ™ใ‚‹ๅ††ๅฝขใฎ ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰็ดฐ่ƒžใŒ็‰นๅพดใงใ€ๅฅฝ้…ธๆ€งๅฐๅ…ฅไฝ“ใฏ็›ดๅพ„ 10nm ใฎไธญ้–“ๅพ„ใƒ•ใ‚ฃใƒฉใƒกใƒณใƒˆใฎใ‹ใ‚‰ใชใฃใฆใ„ใ‚‹ใ€‚1982ๅนดใซGonzalez-Crussiใ‚‰ใซใ‚ˆใฃใฆ่‚ใ‚„่ปŸ้ƒจ็ต„็น”ใชใฉ่…Žๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใคใ„ใง1987ๅนดใซBiggsใ‚‰ใซใ‚ˆใฃใฆไธญๆžข็ฅž็ตŒใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใŒใ€Atypical teratoid/rhabdoid tumor (AT/RT) ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซRorkeใ‚‰ใซใ‚ˆใฃใฆAT/RTใฏ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚1998ๅนดใซVersteegeใ‚‰ใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใซใŠใ„ใฆ22q11.23ไธŠใซๅญ˜ๅœจใ™ใ‚‹hSNF5/INI-1้บไผๅญใฎๅค‰็•ฐใ‚’ๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒใฎsnf5/ini1ใƒŽใƒƒใ‚ฏใ‚ขใ‚ฆใƒˆใƒžใ‚ฆใ‚นใซใŠใ„ใฆใƒžใ‚ฆใ‚นใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็”ŸใŒๅ ฑๅ‘Šใ•ใ‚Œใ€hSNF5/INI-1้บไผๅญใฏ็™ŒๆŠ‘ๅˆถ้บไผๅญใจใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฎๆฌ ๅคฑใƒปๅค‰็•ฐใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€hSNF5/INI-1้บไผๅญใฎ็•ฐๅธธใฏ่…ซ็˜ใฎใฟใชใ‚‰ใšใ€็ด„30๏ผ…็จ‹ๅบฆใฎ็—‡ไพ‹ใงgermlineใงใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใใฎไธ€้ƒจใซๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200057" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏไธปใซ่…Žใ€่‚ใ€่ปŸ้ƒจ็ต„็น”ใ€ไธญๆžข็ฅž็ตŒใชใฉไฝ“ใฎใ‚ใ‚‰ใ‚†ใ‚‹้ƒจไฝใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใจ่…Žใชใฉ่ค‡ๆ•ฐใซๅŒๆ™‚ใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใ„ใฃใŸ็—…ๆ…‹ใซใคใ„ใฆใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ€‚1978ๅนดใซBeckwithใ‚‰ใซใ‚ˆใฃใฆใ€ๅฐๅ…่…Ž่…ซ็˜ใฎไธญใงไบˆๅพŒไธ่‰ฏๅž‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œmalignant rhabdoid tumor of the kidneyใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€ๆ—ฅๆœฌใงใฏๆ‚ชๆ€งๆจช็ด‹็ญ‹่‚‰่…ซๆง˜่…ซ็˜ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ•ใ‚Œใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€้กžๅ††ๅฝขใฎ่…ซๅคงใ—ใŸๆ ธใจ็ดฐ่ƒž่ณชใซๅฅฝ้…ธๆ€ง็ดฐ่ƒž่ณชๅฐๅ…ฅไฝ“ใ‚’ๆœ‰ใ™ใ‚‹ๅ††ๅฝขใฎ ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰็ดฐ่ƒžใŒ็‰นๅพดใงใ€ๅฅฝ้…ธๆ€งๅฐๅ…ฅไฝ“ใฏ็›ดๅพ„ 10nm ใฎไธญ้–“ๅพ„ใƒ•ใ‚ฃใƒฉใƒกใƒณใƒˆใฎใ‹ใ‚‰ใชใฃใฆใ„ใ‚‹ใ€‚1982ๅนดใซGonzalez-Crussiใ‚‰ใซใ‚ˆใฃใฆ่‚ใ‚„่ปŸ้ƒจ็ต„็น”ใชใฉ่…Žๅค–ใฎ็ต„็น”ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใคใ„ใง1987ๅนดใซBiggsใ‚‰ใซใ‚ˆใฃใฆไธญๆžข็ฅž็ตŒใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใŒใ€Atypical teratoid/rhabdoid tumor (AT/RT) ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซRorkeใ‚‰ใซใ‚ˆใฃใฆAT/RTใฏ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚1998ๅนดใซVersteegeใ‚‰ใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใซใŠใ„ใฆ22q11.23ไธŠใซๅญ˜ๅœจใ™ใ‚‹hSNF5/INI-1้บไผๅญใฎๅค‰็•ฐใ‚’ๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒใฎsnf5/ini1ใƒŽใƒƒใ‚ฏใ‚ขใ‚ฆใƒˆใƒžใ‚ฆใ‚นใซใŠใ„ใฆใƒžใ‚ฆใ‚นใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็”ŸใŒๅ ฑๅ‘Šใ•ใ‚Œใ€hSNF5/INI-1้บไผๅญใฏ็™ŒๆŠ‘ๅˆถ้บไผๅญใจใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฎๆฌ ๅคฑใƒปๅค‰็•ฐใŒๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใฎ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€hSNF5/INI-1้บไผๅญใฎ็•ฐๅธธใฏ่…ซ็˜ใฎใฟใชใ‚‰ใšใ€็ด„30๏ผ…็จ‹ๅบฆใฎ็—‡ไพ‹ใงgermlineใงใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ใใฎไธ€้ƒจใซๅฎถๆ—ๆ€งใฎ็™บ็—‡ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200057" ; + dcterms:source ; a owl:Class ; - rdfs:label "Malignant rhabdoid tumour"@en, "ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja ; + rdfs:label "Malignant rhabdoid tumour"@en, "ใ‚ใใ›ใ„ใ‚‰ใถใฉใ„ใฉใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002728 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002728 ; skos:prefLabel "ๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja . -:2200058 - :hasNotificationNumber "37" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200058" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200058" ; + dcterms:source ; a owl:Class ; - rdfs:label "Undifferentiated sarcoma"@en, "ๆœชๅˆ†ๅŒ–่‚‰่…ซ"@ja ; + rdfs:label "Undifferentiated sarcoma"@en, "ใฟใถใ‚“ใ‹ใซใใ—ใ‚…"@ja-Hira, "ๆœชๅˆ†ๅŒ–่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005102 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005102 ; skos:prefLabel "ๆœชๅˆ†ๅŒ–่‚‰่…ซ"@ja . -:2200059 - :hasNotificationNumber "26" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200059" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200059" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dermatofibrosarcoma protuberans"@en, "็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜"@ja ; + rdfs:label "Desmoplastic small round cell tumors"@en, "ใ›ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ—ใ‚‡ใ†ใˆใ‚“ใ‘ใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011934 ; + rdfs:subClassOf ; + skos:altLabel "DSRCT"@en ; + skos:closeMatch obo:MONDO_0019373 ; skos:prefLabel "็ทš็ถญๅฝขๆˆๆ€งๅฐๅ††ๅฝข็ดฐ่ƒž่…ซ็˜"@ja . -:2200060 - :hasNotificationNumber "27" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200060" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200060" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fibrosarcoma"@en, "็ทš็ถญ่‚‰่…ซ"@ja ; + rdfs:label "Fibrosarcoma"@en, "ใ›ใ‚“ใ„ใซใใ—ใ‚…"@ja-Hira, "็ทš็ถญ่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002676, mondo:MONDO_0002678, mondo:MONDO_0005164 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002676, obo:MONDO_0002678, obo:MONDO_0005164 ; skos:prefLabel "็ทš็ถญ่‚‰่…ซ"@ja . -:2200061 - :hasNotificationNumber "8" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200061" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200061" ; + dcterms:source ; a owl:Class ; - rdfs:label "Synovial sarcoma"@en, "ๆป‘่†œ่‚‰่…ซ"@ja ; + rdfs:label "Synovial sarcoma"@en, "ใ‹ใคใพใใซใใ—ใ‚…"@ja-Hira, "ๆป‘่†œ่‚‰่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010434 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010434 ; skos:prefLabel "ๆป‘่†œ่‚‰่…ซ"@ja . -:2200062 - :hasNotificationNumber "39" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200062" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200062" ; + dcterms:source ; a owl:Class ; - rdfs:label "Clear cell sarcoma"@en, "ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ"@ja ; + rdfs:label "Clear cell sarcoma"@en, "ใ‚ใ„ใ•ใ„ใผใ†ใซใใ—ใ‚…"@ja-Hira, "ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002926 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002926 ; skos:prefLabel "ๆ˜Ž็ดฐ่ƒž่‚‰่…ซ"@ja . -:2200063 - :hasNotificationNumber "35" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200063" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200063" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alveolar soft part sarcoma"@en, "่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ"@ja ; + rdfs:label "Alveolar soft part sarcoma"@en, "ใปใ†ใใ†ใ˜ใ‚‡ใ†ใชใ‚“ใถใซใใ—ใ‚…"@ja-Hira, "่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011655 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011655 ; skos:prefLabel "่ƒžๅทฃ็Šถ่ปŸ้ƒจ่‚‰่…ซ"@ja . -:2200064 - :hasNotificationNumber "34" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200064" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200064" ; + dcterms:source ; a owl:Class ; - rdfs:label "Leiomyosarcoma"@en, "ๅนณๆป‘็ญ‹่‚‰่…ซ"@ja ; + rdfs:label "Leiomyosarcoma"@en, "ใธใ„ใ‹ใคใใ‚“ใซใใ—ใ‚…"@ja-Hira, "ๅนณๆป‘็ญ‹่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005058 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005058 ; skos:prefLabel "ๅนณๆป‘็ญ‹่‚‰่…ซ"@ja . -:2200065 - :hasNotificationNumber "17" ; - terms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200065" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "ไฝ“ใฎ่ปŸ้ƒจ็ต„็น”ใ‹ใ‚‰็”Ÿใ˜ใ‚‹ใ€ๆจช็ด‹็ญ‹่‚‰่…ซใ‚’้™คใ่…ซ็˜ใฎไธ€็พคใ‚’ๆŒ‡ใ™ใ€‚้–“่‘‰็ณป็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200065" ; + dcterms:source ; a owl:Class ; - rdfs:label "Liposarcoma"@en, "่„‚่‚ช่‚‰่…ซ"@ja ; + rdfs:label "Liposarcoma"@en, "ใ—ใผใ†ใซใใ—ใ‚…"@ja-Hira, "่„‚่‚ช่‚‰่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003585, mondo:MONDO_0003587, mondo:MONDO_0005060 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003585, obo:MONDO_0003587, obo:MONDO_0005060 ; skos:prefLabel "่„‚่‚ช่‚‰่…ซ"@ja . -:2200066 - :hasNotificationNumber "38" ; - terms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200066" ; - terms:source ; + + nando:hasNotificationNumber "38" ; + dcterms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200066" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dysgerminoma"@en, "ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Dysgerminoma"@en, "ใฟใถใ‚“ใ‹ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003002, mondo:MONDO_0003481 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003002 ; skos:prefLabel "ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ"@ja . -:2200067 - :hasNotificationNumber "28" ; - terms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200067" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200067" ; + dcterms:source ; a owl:Class ; - rdfs:label "Embryonal carcinoma"@en, "่ƒŽๅ…ๆ€ง็™Œ"@ja ; + rdfs:label "Embryonal carcinoma"@en, "ใŸใ„ใ˜ใ›ใ„ใŒใ‚“"@ja-Hira, "่ƒŽๅ…ๆ€ง็™Œ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003581, mondo:MONDO_0005440, mondo:MONDO_0018843 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005440 ; skos:prefLabel "่ƒŽๅ…ๆ€ง็™Œ"@ja . -:2200068 - :hasNotificationNumber "30" ; - terms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200068" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200068" ; + dcterms:source ; a owl:Class ; - rdfs:label "Polyembryoma"@en, "ๅคš่ƒŽ่Šฝ่…ซ"@ja ; + rdfs:label "Polyembryoma"@en, "ใŸใŸใ„ใŒใ—ใ‚…"@ja-Hira, "ๅคš่ƒŽ่Šฝ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003989, mondo:MONDO_0015863 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015863 ; skos:prefLabel "ๅคš่ƒŽ่Šฝ่…ซ"@ja . -:2200069 - :hasNotificationNumber "42" ; - terms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200069" ; - terms:source ; + + nando:hasNotificationNumber "42" ; + dcterms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200069" ; + dcterms:source ; a owl:Class ; - rdfs:label "Yolk sac tumour"@en, "ๅต้ป„ๅšข่…ซ"@ja ; + rdfs:label "Yolk sac tumour"@en, "ใ‚‰ใ‚“ใŠใ†ใฎใ†ใ—ใ‚…"@ja-Hira, "ๅต้ป„ๅšข่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "ๅต้ป„ๅšข่…ซ็˜"@ja ; + skos:closeMatch obo:MONDO_0003759, obo:MONDO_0005744 ; skos:prefLabel "ๅต้ป„ๅšข่…ซ"@ja . -:2200070 - :hasNotificationNumber "18" ; - terms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200070" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200070" ; + dcterms:source ; a owl:Class ; - rdfs:label "Choriocarcinoma"@en, "็ตจๆฏ›็™Œ"@ja ; + rdfs:label "Choriocarcinoma"@en, "ใ˜ใ‚…ใ†ใ‚‚ใ†ใŒใ‚“"@ja-Hira, "็ตจๆฏ›็™Œ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003508, mondo:MONDO_0004491, mondo:MONDO_0005207 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005207 ; skos:prefLabel "็ตจๆฏ›็™Œ"@ja . -:2200071 - :hasNotificationNumber "16" ; - terms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200071" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200071" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mixed germ cell tumour"@en, "ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜"@ja ; + rdfs:label "Mixed germ cell tumour"@en, "ใ“ใ‚“ใ”ใ†ใ›ใ„ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015864 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015864 ; skos:prefLabel "ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜"@ja . -:2200072 - :hasNotificationNumber "25" ; - terms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200072" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๅŽŸๅง‹่ƒš็ดฐ่ƒž๏ผˆๅŽŸๅง‹็”Ÿๆฎ–็ดฐ่ƒž, primordial germ cell๏ผ‰ใŒ่ƒŽ็”ŸๆœŸใซๅ‡บ็พใ—ใ€ๆˆ็†Ÿใ—ใŸ่ƒš็ดฐ่ƒž๏ผˆ้…ๅถๅญ๏ผ‰ใซใชใ‚‹ใพใงใฎๆ™‚ๆœŸใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ใฎ็ท็งฐใงใ€ๅคšใใฎ็จฎ้กžใฎ่…ซ็˜ใ‚’ๅซใฟใ€่ƒš็ดฐ่ƒž่…ซ็˜็พคใจ็งฐใ•ใ‚Œใ‚‹ในใใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰ใ‚‚็™บ็”Ÿใ—ใ€ไป™ๅฐพ้ƒจใ€็ธฆ้š”ใ€ๅพŒ่…น่†œใ€้ ญ่“‹ๅ†…ใ‹ใ‚‰ใฎ็™บ็”Ÿ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๆ€ง่…บไปฅๅค–ใ‹ใ‚‰็™บ็”Ÿใ—ใŸ่…ซ็˜ใฏ่ฟทๅ…ฅ้บๆฎ‹ใ—ใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆฏๅœฐใงใ‚ใ‚‹ใจ็†่งฃใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸๅŽŸๅง‹่ƒš็ดฐ่ƒžใŒๆˆ็†Ÿใ—ใŸ้…ๅถๅญใธ็™บ้”ใ™ใ‚‹ใซใฏ็”Ÿๆฎ–้š†่ตท็”ฑๆฅใฎ้–“่ณช็ณป็ดฐ่ƒž๏ผˆsex cord/stromal cells๏ผ‰ใŒๅฟ…้ ˆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€็ต„็น”ๅญฆ็š„ๅˆ†้กžใฏไปฅไธ‹ใฎใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ๆœชๅˆ†ๅŒ–่ƒš็ดฐ่ƒž่…ซ๏ผ่ƒš็ดฐ่ƒž่…ซ๏ผใ‚ปใƒŸใƒŽใƒผใƒžใฎไธ€็พคใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ใงใ‚ใ‚‹ใŒ็™บ็”Ÿ้ƒจไฝใซใ‚ˆใ‚Š่จบๆ–ญๅใŒ็•ฐใชใ‚‹ใ€‚ใใฎไป–ใ€่ƒŽๅ…ๆ€ง็™Œใ€ๅคš่ƒŽ่Šฝ็™Œใ€ๅต้ป„ๅšข่…ซ็˜ใ€็ตจๆฏ›็™Œใ€ๅฅ‡ๅฝข่…ซ๏ผˆๆˆ็†Ÿๅž‹ใ€ๆœช็†Ÿๅž‹๏ผ‰ใ‚‰ใŒๅ˜ไธ€็ต„็น”ๅž‹ใงใ‚ใ‚Šใ€ใใ‚Œใ‚‰ใŒ2็จฎ้กžไปฅไธŠใฎ็ต„ใฟๅˆใ‚ใ›ใ‹ใ‚‰ใชใ‚‹่ค‡ๅˆ็ต„็น”ๅž‹ใ‚’ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจ็งฐใ™ใ‚‹ใ€‚่ƒš็ดฐ่ƒž้–ข้€ฃ่…ซ็˜ใจใ—ใฆใฏๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜๏ผˆ้ก†็ฒ’่†œ็ดฐ่ƒž่…ซใ€่Žข่†œ็ดฐ่ƒž่…ซใ€ใƒฉใ‚คใƒ‡ใ‚ฃใ‚ฏ็ดฐ่ƒž่…ซใ€ใ‚ปใƒซใƒˆใƒช็ดฐ่ƒž่…ซใ€ๆททๅˆๅž‹ใพใŸใฏๅˆ†้กžไธ่ƒฝๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚ใ€€่‰ฏๆ€งใฎๆˆ็†Ÿๅž‹ๅฅ‡ๅฝข่…ซใ‚„ไธ€้ƒจใฎๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜ใ‹ใ‚‰ใ€ๆœช็†Ÿๆˆๅˆ†ใฎๅคšๅฐ‘ใ‚„็™บ็—‡ๅนด้ฝขใซใ‚ˆใ‚Šๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ๆœช็†Ÿๅฅ‡ๅฝข่…ซใ‚„ใ€ๆ‚ชๆ€งใฎ่…ซ็˜ใพใง็ต„็น”ๅž‹ใซใ‚ˆใ‚Šใ•ใพใ–ใพใช็”Ÿ็‰ฉๅญฆ็š„็‰นๅพดใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200072" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sox-cord stromal tumour"@en, "ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜"@ja ; + rdfs:label "Sex-cord stromal tumour"@en, "ใ›ใ„ใ•ใใ‹ใ‚“ใ—ใคใ›ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006055 ; skos:prefLabel "ๆ€ง็ดข้–“่ณชๆ€ง่…ซ็˜"@ja . -:2200073 - :hasNotificationNumber "33" ; - terms:description "ๅ‰ฏ่…Ž็šฎ่ณชใซ็™บ็”Ÿใ™ใ‚‹็จ€ใชๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200073" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ๅ‰ฏ่…Ž็šฎ่ณชใซ็™บ็”Ÿใ™ใ‚‹็จ€ใชๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200073" ; + dcterms:source ; a owl:Class ; - rdfs:label "Epipharyngeal carcinoma"@en, "ๅ‰ฏ่…Ž็šฎ่ณช็™Œ"@ja ; + rdfs:label "Adrenocortical carcinoma"@en, "ใตใใ˜ใ‚“ใฒใ—ใคใŒใ‚“"@ja-Hira, "ๅ‰ฏ่…Ž็šฎ่ณช็™Œ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006639 ; skos:prefLabel "ๅ‰ฏ่…Ž็šฎ่ณช็™Œ"@ja . -:2200074 - :hasNotificationNumber "13" ; - terms:description "็”ฒ็Šถ่…บ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ€ๆง˜ใ€…ใช็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200074" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "็”ฒ็Šถ่…บ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€งๆ‚ชๆ€ง่…ซ็˜ใงใ€ๆง˜ใ€…ใช็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200074" ; + dcterms:source ; a owl:Class ; - rdfs:label "Thyroid cancer"@en, "็”ฒ็Šถ่…บ็™Œ"@ja ; + rdfs:label "Thyroid cancer"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใŒใ‚“"@ja-Hira, "็”ฒ็Šถ่…บ็™Œ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002108, mondo:MONDO_0015075 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002108, obo:MONDO_0015075 ; skos:prefLabel "็”ฒ็Šถ่…บ็™Œ"@ja . -:2200075 - :hasNotificationNumber "19" ; - terms:description "ใŠใŠใ‚ˆใ็กฌๅฃ่“‹ใจ่ปŸๅฃ่“‹ใฎๆŽฅๅˆ้ƒจใฎ้ซ˜ใ•ใ‹ใ‚‰้ ญ่“‹ๅบ•ใพใงใฎไธŠๅ’ฝ้ ญใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ๆŒ‡ใ™ใ€‚"@ja ; - terms:identifier "2200075" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ใŠใŠใ‚ˆใ็กฌๅฃ่“‹ใจ่ปŸๅฃ่“‹ใฎๆŽฅๅˆ้ƒจใฎ้ซ˜ใ•ใ‹ใ‚‰้ ญ่“‹ๅบ•ใพใงใฎไธŠๅ’ฝ้ ญใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ๆŒ‡ใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200075" ; + dcterms:source ; a owl:Class ; - rdfs:label "Epipharyngeal carcinoma"@en, "ไธŠๅ’ฝ้ ญ็™Œ"@ja ; + rdfs:label "Epipharyngeal carcinoma"@en, "ใ˜ใ‚‡ใ†ใ„ใ‚“ใจใ†ใŒใ‚“"@ja-Hira, "ไธŠๅ’ฝ้ ญ็™Œ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ไธŠๅ’ฝ้ ญ็™Œ"@ja . -:2200076 - :hasNotificationNumber "29" ; - terms:description "ๅคงๅ”พๆถฒ่…บ๏ผˆ่€ณไธ‹่…บใ€้กŽไธ‹่…บใ€่ˆŒไธ‹่…บ๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ใ•ใ™ใ€‚"@ja ; - terms:identifier "2200076" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:description "ๅคงๅ”พๆถฒ่…บ๏ผˆ่€ณไธ‹่…บใ€้กŽไธ‹่…บใ€่ˆŒไธ‹่…บ๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹็™Œ่…ซใ‚’ใ•ใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200076" ; + dcterms:source ; a owl:Class ; - rdfs:label "Salivery grand carcinoma"@en, "ๅ”พๆถฒ่…บ็™Œ"@ja ; + rdfs:label "Salivary grand carcinoma"@en, "ใ ใˆใใ›ใ‚“ใŒใ‚“"@ja-Hira, "ๅ”พๆถฒ่…บ็™Œ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000521 ; skos:prefLabel "ๅ”พๆถฒ่…บ็™Œ"@ja . -:2200077 - :hasNotificationNumber "2" ; - terms:description "ใƒกใƒฉใƒŽใ‚ตใ‚คใƒˆ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200077" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ใƒกใƒฉใƒŽใ‚ตใ‚คใƒˆ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200077" ; + dcterms:source ; a owl:Class ; - rdfs:label "Malignant melanoma"@en, "ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ"@ja ; + rdfs:label "Malignant melanoma"@en, "ใ‚ใใ›ใ„ใ“ใใ—ใ‚‡ใใ—ใ‚…"@ja-Hira, "ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005105 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005105 ; skos:prefLabel "ๆ‚ชๆ€ง้ป’่‰ฒ่…ซ"@ja . -:2200078 - :hasNotificationNumber "7" ; - terms:description "ๅ‰ฏ่…Ž้ซ„่ณชใฎใ‚ฏใƒญใƒ ่ฆชๅ’Œๆ€ง็ดฐ่ƒžใ‹ใ‚‰็”Ÿใ˜ใŸ่…ซ็˜ใ€‚ๅ‚็ฅž็ตŒ็ฏ€ใ‹ใ‚‰็”Ÿใ˜ใŸใ‚‚ใฎใฏ็‰นใซๅ‚็ฅž็ตŒ็ฏ€่…ซ๏ผˆใƒ‘ใƒฉใ‚ฌใƒณใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใ‚‚ๆคœๆŸปใƒ‡ใƒผใ‚ฟไธŠใ‚‚ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ไผดใ†ๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใ€ใใ†ใงใฏใชใ„้žๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๅ‚็ฅž็ตŒ็ฏ€่…ซใงใฏใ€ไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใจๅ‰ฏไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200078" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ๅ‰ฏ่…Ž้ซ„่ณชใฎใ‚ฏใƒญใƒ ่ฆชๅ’Œๆ€ง็ดฐ่ƒžใ‹ใ‚‰็”Ÿใ˜ใŸ่…ซ็˜ใ€‚ๅ‚็ฅž็ตŒ็ฏ€ใ‹ใ‚‰็”Ÿใ˜ใŸใ‚‚ใฎใฏ็‰นใซๅ‚็ฅž็ตŒ็ฏ€่…ซ๏ผˆใƒ‘ใƒฉใ‚ฌใƒณใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠ็š„ใซใ‚‚ๆคœๆŸปใƒ‡ใƒผใ‚ฟไธŠใ‚‚ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ้Žๅ‰ฐ็”ฃ็”Ÿใ‚’ไผดใ†ๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใ€ใใ†ใงใฏใชใ„้žๆฉŸ่ƒฝๆ€งใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๅ‚็ฅž็ตŒ็ฏ€่…ซใงใฏใ€ไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใจๅ‰ฏไบคๆ„Ÿ็ฅž็ตŒ็”ฑๆฅใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200078" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pheochromocytoma"@en, "่ค่‰ฒ็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Pheochromocytoma"@en, "ใ‹ใฃใ—ใ‚‡ใใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "่ค่‰ฒ็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004974, mondo:MONDO_0008233 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004974 ; skos:prefLabel "่ค่‰ฒ็ดฐ่ƒž่…ซ"@ja . -:2200079 - :hasNotificationNumber "1" ; - terms:description "่ƒธ่…บไธŠ็šฎ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใซ้ซ˜ๅบฆใฎ็•ฐๅž‹ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’่ƒธ่…บ่…ซใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใŒๆ˜Žใ‚‰ใ‹ใช็•ฐๅž‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’่ƒธ่…บ็™Œใจใ„ใ†ใ€‚ใพใŸใ€่ƒธ่…บ่…ซใฎไธญใซใ‚‚ๅ‘จๅ›ฒ็ต„็น”ใธๆตธๆฝคใ—้ ้š”่ปข็งปใ‚’ใใŸใ™ๅฏ่ƒฝๆ€งใฎใ‚ใ‚‹ใ‚‚ใฎใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200079" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "่ƒธ่…บไธŠ็šฎ็”ฑๆฅใฎๆ‚ชๆ€ง่…ซ็˜ใง็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใงใ„ใ‚‹ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใซ้ซ˜ๅบฆใฎ็•ฐๅž‹ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’่ƒธ่…บ่…ซใ€่…ซ็˜ๆ€งไธŠ็šฎ็ดฐ่ƒžใŒๆ˜Žใ‚‰ใ‹ใช็•ฐๅž‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’่ƒธ่…บ็™Œใจใ„ใ†ใ€‚ใพใŸใ€่ƒธ่…บ่…ซใฎไธญใซใ‚‚ๅ‘จๅ›ฒ็ต„็น”ใธๆตธๆฝคใ—้ ้š”่ปข็งปใ‚’ใใŸใ™ๅฏ่ƒฝๆ€งใฎใ‚ใ‚‹ใ‚‚ใฎใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200079" ; + dcterms:source ; a owl:Class ; - rdfs:label "Malignant thymoma"@en, "ๆ‚ชๆ€ง่ƒธ่…บ่…ซ"@ja ; + rdfs:label "Malignant thymoma"@en, "ใ‚ใใ›ใ„ใใ‚‡ใ†ใ›ใ‚“ใ—ใ‚…"@ja-Hira, "ๆ‚ชๆ€ง่ƒธ่…บ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006451 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006451 ; skos:prefLabel "ๆ‚ชๆ€ง่ƒธ่…บ่…ซ"@ja . -:2200080 - :hasNotificationNumber "12" ; - terms:description "ไนณๅนผๅ…ๆœŸใฎ่‚บใ‚„็จ€ใซใฏๅฃๅด่ƒธ่†œใซ็™บ็”Ÿใ™ใ‚‹่ƒŽๅ…ๆ€งๆ‚ชๆ€ง่…ซ็˜ใ€‚"@ja ; - terms:identifier "2200080" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ไนณๅนผๅ…ๆœŸใฎ่‚บใ‚„็จ€ใซใฏๅฃๅด่ƒธ่†œใซ็™บ็”Ÿใ™ใ‚‹่ƒŽๅ…ๆ€งๆ‚ชๆ€ง่…ซ็˜ใ€‚"@ja ; + dcterms:identifier "NANDO:2200080" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pleuropulmonaryblastoma"@en, "่ƒธ่†œ่‚บ่Šฝ่…ซ"@ja ; + rdfs:label "Pleuropulmonaryblastoma"@en, "ใใ‚‡ใ†ใพใใฏใ„ใŒใ—ใ‚…"@ja-Hira, "่ƒธ่†œ่‚บ่Šฝ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Pleuropulmonary blastoma"@en ; + skos:closeMatch obo:MONDO_0011014 ; skos:prefLabel "่ƒธ่†œ่‚บ่Šฝ่…ซ"@ja . -:2200081 - :hasNotificationNumber "11" ; - terms:description "ๆฐ—็ฎกๆ”ฏใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ€็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใ ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200081" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ๆฐ—็ฎกๆ”ฏใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ€็จฎใ€…ใฎ็ต„็น”ๅž‹ใ‚’ๅซใ‚“ใ ๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200081" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bronchial tumour"@en, "ๆฐ—็ฎกๆ”ฏ่…ซ็˜"@ja ; + rdfs:label "Bronchial tumour"@en, "ใใ‹ใ‚“ใ—ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๆฐ—็ฎกๆ”ฏ่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002807 ; skos:prefLabel "ๆฐ—็ฎกๆ”ฏ่…ซ็˜"@ja . -:2200082 - :hasNotificationNumber "24" ; - terms:description "็™บ็”ŸๅˆๆœŸใฎ่†ต็ต„็น”ใซ้กžไผผใ—ใ€ๅฐๅ…ๆœŸใซๅฅฝ็™บใ™ใ‚‹ๅˆ†ๅŒ–ๆ–นๅ‘ไธๆ˜ŽใชไธŠ็šฎๆ€ง่†ต่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200082" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "็™บ็”ŸๅˆๆœŸใฎ่†ต็ต„็น”ใซ้กžไผผใ—ใ€ๅฐๅ…ๆœŸใซๅฅฝ็™บใ™ใ‚‹ๅˆ†ๅŒ–ๆ–นๅ‘ไธๆ˜ŽใชไธŠ็šฎๆ€ง่†ต่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200082" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pancreatoblastoma"@en, "่†ต่Šฝ่…ซ"@ja ; + rdfs:label "Pancreatoblastoma"@en, "ใ™ใ„ใŒใ—ใ‚…"@ja-Hira, "่†ต่Šฝ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019035 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019035 ; skos:prefLabel "่†ต่Šฝ่…ซ"@ja . -:2200083 - :hasNotificationNumber "43" ; - terms:description "ๅ‰่ฟฐใ•ใ‚ŒใŸไปฅๅค–ใฎๅ›บๅฝข่…ซ็˜ใ€‚"@ja ; - terms:identifier "2200083" ; - terms:source ; + + nando:hasNotificationNumber "43" ; + dcterms:description "ๅ‰่ฟฐใ•ใ‚ŒใŸไปฅๅค–ใฎๅ›บๅฝข่…ซ็˜ใ€‚"@ja ; + dcterms:identifier "NANDO:2200083" ; + dcterms:source ; a owl:Class ; - rdfs:label "27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜"@ja, "Other solid tumours"@en ; + rdfs:label "27ใ‹ใ‚‰68ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜"@ja, "Other solid tumours"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "27ใ‹ใ‚‰68ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ›บๅฝข่…ซ็˜"@ja . -:2200084 - :hasNotificationNumber "68" ; - terms:description "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใใฎใ†ใกๆœ€ใ‚‚ๆ‚ชๆ€งๅบฆใฏไฝŽใใ€WHOๅˆ†้กžใ‚ฐใƒฌใƒผใƒ‰โ… ใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๅขƒ็•Œๆ˜Ž็žญใงใ€ๅข—ๅคงใฏ็ทฉๅพใ€ใ—ใฐใ—ใฐๅšข่ƒžใ‚’ไผดใฃใฆใ€ๅฐๅ…ใ‚„่‹ฅๅนดๆˆไบบใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่…ซ็˜็ดฐ่ƒžใฏๅตๅ††ๅฝขใฎๆ ธใ‚’ๆœ‰ใ—ใฆ้•ทใไผธใณใ€ๆฏ›ใซไผผใŸๅค–่ฆณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200084" ; - terms:source ; + + nando:hasNotificationNumber "68" ; + dcterms:description "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใใฎใ†ใกๆœ€ใ‚‚ๆ‚ชๆ€งๅบฆใฏไฝŽใใ€WHOๅˆ†้กžใ‚ฐใƒฌใƒผใƒ‰โ… ใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๅขƒ็•Œๆ˜Ž็žญใงใ€ๅข—ๅคงใฏ็ทฉๅพใ€ใ—ใฐใ—ใฐๅšข่ƒžใ‚’ไผดใฃใฆใ€ๅฐๅ…ใ‚„่‹ฅๅนดๆˆไบบใซ็™บ็”Ÿใ™ใ‚‹ใ€‚่…ซ็˜็ดฐ่ƒžใฏๅตๅ††ๅฝขใฎๆ ธใ‚’ๆœ‰ใ—ใฆ้•ทใไผธใณใ€ๆฏ›ใซไผผใŸๅค–่ฆณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200084" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pilocytic astrocytoma"@en, "ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Pilocytic astrocytoma"@en, "ใ‚‚ใ†ใ‚ˆใ†ใ•ใ„ใผใ†ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004000, mondo:MONDO_0016691 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004000, obo:MONDO_0016691 ; skos:prefLabel "ๆฏ›ๆง˜็ดฐ่ƒžๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja . -:2200085 - :hasNotificationNumber "64" ; - terms:description "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ใใฎใ†ใกใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏWHOๅˆ†้กžๆ‚ชๆ€งๅบฆโ…กใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏ่‹ฅๅนดๆˆไบบใซๅคšใใ€ๅข—ๅคงใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใฎใฉใฎ้ƒจๅˆ†ใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€ใƒ†ใƒณใƒˆไธŠใฎใ“ใจใŒๅคšใ„ใ€‚้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใ‚„่† ่Šฝ่…ซใจใ„ใฃใŸ้ซ˜ๆ‚ชๆ€งๅบฆใ‚ฐใƒชใ‚ชใƒผใƒžใซ่ปขๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200085" ; - terms:source ; + + nando:hasNotificationNumber "64" ; + dcterms:description "็ฅž็ตŒ่† ่…ซ๏ผˆใ‚ฐใƒชใ‚ชใƒผใƒž๏ผ‰ใฏ่„ณใƒป่„Š้ซ„ใฎ็ฅž็ตŒ่† ๏ผˆใ‚ฐใƒชใ‚ข๏ผ‰็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ—ใ€WHOใฎ่„ณ่…ซ็˜ๅˆ†้กžใงไฝŽๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ… ใƒปโ…ก๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆๆ‚ชๆ€งๅบฆโ…ขใƒปโ…ฃ๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใฎใ†ใกๆ˜Ÿ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ‚ฐใƒชใ‚ชใƒผใƒžใŒๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€ใใฎใ†ใกใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏWHOๅˆ†้กžๆ‚ชๆ€งๅบฆโ…กใซ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใซใฏ่‹ฅๅนดๆˆไบบใซๅคšใใ€ๅข—ๅคงใฏ็ทฉๅพใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒใฎใฉใฎ้ƒจๅˆ†ใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€ใƒ†ใƒณใƒˆไธŠใฎใ“ใจใŒๅคšใ„ใ€‚้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใ‚„่† ่Šฝ่…ซใจใ„ใฃใŸ้ซ˜ๆ‚ชๆ€งๅบฆใ‚ฐใƒชใ‚ชใƒผใƒžใซ่ปขๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200085" ; + dcterms:source ; a owl:Class ; - rdfs:label "Diffuse astrocytoma"@en, "ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Diffuse astrocytoma"@en, "ใณใพใ‚“ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016686, mondo:MONDO_0016688 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016686 ; skos:prefLabel "ใณใพใ‚“ๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja . -:2200086 - :hasNotificationNumber "63" ; - terms:description "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€้€€่กŒๅฝขๆˆๆ‰€่ฆ‹ใจๅข—ๆฎ–่ƒฝใฎไบข้€ฒใ‚’็คบใ™ๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€่„ณๅ†…ใซใณใพใ‚“ๆ€งใซๆตธๆฝคใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IIIใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚่† ่Šฝ่…ซใธใจ้€ฒๅฑ•ใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใ€ๆ ธใฎๅคšๅฝขๆˆใ€‚ใ‚ฏใƒญใƒžใƒใƒณ้‡ใ€ๆ ธ็ดฐ่ƒž่ณชๆฏ”ใชใฉใŒ้ซ˜ใใ€ๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅฃŠๆญปๅทฃใฏ่ชใ‚ใชใ„ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200086" ; - terms:source ; + + nando:hasNotificationNumber "63" ; + dcterms:description "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€้€€่กŒๅฝขๆˆๆ‰€่ฆ‹ใจๅข—ๆฎ–่ƒฝใฎไบข้€ฒใ‚’็คบใ™ๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚Šใ€่„ณๅ†…ใซใณใพใ‚“ๆ€งใซๆตธๆฝคใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IIIใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚่† ่Šฝ่…ซใธใจ้€ฒๅฑ•ใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใ€ๆ ธใฎๅคšๅฝขๆˆใ€‚ใ‚ฏใƒญใƒžใƒใƒณ้‡ใ€ๆ ธ็ดฐ่ƒž่ณชๆฏ”ใชใฉใŒ้ซ˜ใใ€ๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅฃŠๆญปๅทฃใฏ่ชใ‚ใชใ„ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200086" ; + dcterms:source ; a owl:Class ; - rdfs:label "Anaplastic astrocytoma"@en, "้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja ; + rdfs:label "Anaplastic astrocytoma"@en, "ใŸใ„ใ‘ใ„ใ›ใ„ใ›ใ„ใ›ใ„ใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016684 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016684 ; skos:prefLabel "้€€ๅฝขๆˆๆ€งๆ˜Ÿ็ดฐ่ƒž่…ซ"@ja . -:2200087 - :hasNotificationNumber "52" ; - terms:description "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€่† ่Šฝ่…ซใฏ่‘—ๆ˜Žใช้€€ๅฝขๆˆใจ้ซ˜ใ„ๅข—ๆฎ–ๆดปๆ€งใ‚’็คบใ™่† ่…ซใงใ€่„ณๅฎŸ่ณชๅ†…ใซๆตธๆฝคๆ€ง็ ดๅฃŠๆ€งใซๅข—ๆฎ–ใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IVใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใŒ้ซ˜ใใ€ๆง‹ๆˆ็ดฐ่ƒžใฏๅคš็จฎๅคšๆง˜ใฎๅฝขๆ…‹ใ‚’็คบใ™ใ€‚ๆ ธๅˆ†่ฃ‚ๅƒใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใ‚‹ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200087" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:description "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไพ‹ใˆใฐใ€ๆ˜Ÿ็ดฐ่ƒžใ‚’่ตทๆบใจใ™ใ‚‹ๆ˜Ÿ็ดฐ่ƒž่…ซใฏใ€ๅฐๅ…ใฎใ‚ฐใƒชใ‚ชใƒผใƒžใงๆœ€ใ‚‚ๅคšใ่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ•ใ‚‰ใซไฝŽๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IใŠใ‚ˆใณII๏ผ‰ใจ้ซ˜ๆ‚ชๆ€งๅบฆ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰IIIใŠใ‚ˆใณIV๏ผ‰ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ€€่† ่Šฝ่…ซใฏ่‘—ๆ˜Žใช้€€ๅฝขๆˆใจ้ซ˜ใ„ๅข—ๆฎ–ๆดปๆ€งใ‚’็คบใ™่† ่…ซใงใ€่„ณๅฎŸ่ณชๅ†…ใซๆตธๆฝคๆ€ง็ ดๅฃŠๆ€งใซๅข—ๆฎ–ใ™ใ‚‹WHOใ‚ฐใƒฌใƒผใƒ‰IVใฎ้ซ˜ๆ‚ชๆ€งๅบฆๆ˜Ÿ็ดฐ่ƒž่…ซใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€่…ซ็˜็ดฐ่ƒžใฎๅฏ†ๅบฆใŒ้ซ˜ใใ€ๆง‹ๆˆ็ดฐ่ƒžใฏๅคš็จฎๅคšๆง˜ใฎๅฝขๆ…‹ใ‚’็คบใ™ใ€‚ๆ ธๅˆ†่ฃ‚ๅƒใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใ‚‹ใ€‚ๅคšใใฎ่…ซ็˜็ดฐ่ƒžใงGFAP๏ผˆglial fibrillary acidic protein๏ผ‰ใฎๅ…็–ซๆŸ“่‰ฒใŒ้™ฝๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200087" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glioblastoma"@en, "่† ่Šฝ่…ซ"@ja ; + rdfs:label "Glioblastoma"@en, "ใ“ใ†ใŒใ—ใ‚…"@ja-Hira, "่† ่Šฝ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018177, mondo:MONDO_0020690 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018177, obo:MONDO_0020690 ; skos:prefLabel "่† ่Šฝ่…ซ"@ja . -:2200088 - :hasNotificationNumber "53" ; - terms:description "ไธŠ่กฃ่…ซใฏ่„ณๅฎคใ€่„Š้ซ„ไธญๅฟƒ้ƒจใฎ่กจ้ขใ‚’่ฆ†ใฃใฆใ„ใ‚‹ไธŠ่กฃ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใจใƒ†ใƒณใƒˆไธ‹ใงใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ไธŠ่กฃ่…ซใงใ‚ใฃใฆใ‚‚ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏ็•ฐใชใ‚‹ใ€‚็—…็†ๆ‰€่ฆ‹ใงใฏ้กžๅ††ๅฝขๆ ธใจๅขƒ็•Œใฎไธๆ˜Ž็žญใชๅผฑๅฅฝ้…ธๆ€งใฎ็ดฐ่ƒž่ณชใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่ƒžใŒใณใพใ‚“ๆ€งใซๅข—ๆฎ–ใ—ใ€่ก€็ฎกๅ‘จๅ›ฒๆ€งๅฝใƒญใ‚ผใƒƒใƒˆใ‚„ไธŠ่กฃใƒญใ‚ผใƒƒใƒˆใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใŒ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚้€€ๅฝขๆˆๆ€งใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏ้€€ๅฝขๆˆๆ€งไธŠ่กฃ่…ซใงใ‚ใ‚Šใ€ไธŠ่กฃ่…ซใฏWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใงใ‚ใ‚‹ใฎใซๅฏพใ—ใ€ใ‚ฐใƒฌใƒผใƒ‰ IIIใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200088" ; - terms:source ; + + nando:hasNotificationNumber "53" ; + dcterms:description "ไธŠ่กฃ่…ซใฏ่„ณๅฎคใ€่„Š้ซ„ไธญๅฟƒ้ƒจใฎ่กจ้ขใ‚’่ฆ†ใฃใฆใ„ใ‚‹ไธŠ่กฃ็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใจใƒ†ใƒณใƒˆไธ‹ใงใฏ็—…็†ๅญฆ็š„ใซใฏๅŒใ˜ไธŠ่กฃ่…ซใงใ‚ใฃใฆใ‚‚ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏ็•ฐใชใ‚‹ใ€‚็—…็†ๆ‰€่ฆ‹ใงใฏ้กžๅ††ๅฝขๆ ธใจๅขƒ็•Œใฎไธๆ˜Ž็žญใชๅผฑๅฅฝ้…ธๆ€งใฎ็ดฐ่ƒž่ณชใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่ƒžใŒใณใพใ‚“ๆ€งใซๅข—ๆฎ–ใ—ใ€่ก€็ฎกๅ‘จๅ›ฒๆ€งๅฝใƒญใ‚ผใƒƒใƒˆใ‚„ไธŠ่กฃใƒญใ‚ผใƒƒใƒˆใ‚’ๅฝขๆˆใ™ใ‚‹ใฎใŒ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚้€€ๅฝขๆˆๆ€งใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใฏ้€€ๅฝขๆˆๆ€งไธŠ่กฃ่…ซใงใ‚ใ‚Šใ€ไธŠ่กฃ่…ซใฏWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใงใ‚ใ‚‹ใฎใซๅฏพใ—ใ€ใ‚ฐใƒฌใƒผใƒ‰ IIIใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200088" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ependymoma"@en, "ไธŠ่กฃ่…ซ"@ja ; + rdfs:label "Ependymoma"@en, "ใ˜ใ‚‡ใ†ใ„ใ—ใ‚…"@ja-Hira, "ไธŠ่กฃ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003478, mondo:MONDO_0016698, mondo:MONDO_0024498 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016698 ; skos:prefLabel "ไธŠ่กฃ่…ซ"@ja . -:2200089 - :hasNotificationNumber "65" ; - terms:description "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไน็ช่ตท่† ็ดฐ่ƒž็”ฑๆฅใฎไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ€ๅฐๅ…ใฎ่„ณ่…ซ็˜ใงใฏๆฅตใ‚ใฆใพใ‚Œใชใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€ไน็ช่ตท่† ็ดฐ่ƒžใซ้กžไผผใ—ใŸไธญๅฟƒๆ€งใฎ้กžๅ††ๅฝขๆ ธใจๆทกๆ˜Žใช็ดฐ่ƒž่ณชใ‚’ๆŒใกใ€็ดฐ่ƒžใฎ่ผช้ƒญใŒๆ˜Ž็ขบใช่…ซ็˜็ดฐ่ƒžใŒๅ‡ไธ€ใซๅˆ†ๅธƒใ—ใ€็ดฐ่ƒžๅฏ†ๅบฆใฏใ‚„ใ‚„้ซ˜ใ„ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ•ใ‚‰ใซๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ไน็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰II๏ผ‰ใจไน้€€ๅฝขๆˆๆ€ง็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰III๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200089" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:description "ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่„ณใŠใ‚ˆใณ่„Š้ซ„ใซใฟใ‚‰ใ‚Œใ‚‹ใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใƒผใƒžใฏใ€่‡จๅบŠ็—…็†ๅญฆ็š„ใŠใ‚ˆใณ็ต„็น”ๅญฆ็š„ใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅพ“ใฃใฆๅ‘ฝๅใ•ใ‚Œใ‚‹ใ€‚ไน็ช่ตท่† ็ดฐ่ƒž็”ฑๆฅใฎไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ€ๅฐๅ…ใฎ่„ณ่…ซ็˜ใงใฏๆฅตใ‚ใฆใพใ‚Œใชใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ๆคœๆŸปใงใฏใ€ไน็ช่ตท่† ็ดฐ่ƒžใซ้กžไผผใ—ใŸไธญๅฟƒๆ€งใฎ้กžๅ††ๅฝขๆ ธใจๆทกๆ˜Žใช็ดฐ่ƒž่ณชใ‚’ๆŒใกใ€็ดฐ่ƒžใฎ่ผช้ƒญใŒๆ˜Ž็ขบใช่…ซ็˜็ดฐ่ƒžใŒๅ‡ไธ€ใซๅˆ†ๅธƒใ—ใ€็ดฐ่ƒžๅฏ†ๅบฆใฏใ‚„ใ‚„้ซ˜ใ„ใ€‚่„ณ่…ซ็˜ใฎWHOๅˆ†้กžใซๅพ“ใ†ใจใ€ไน็ช่ตท่† ็ดฐ่ƒž็ณป่…ซ็˜ใฏใ•ใ‚‰ใซๆ‚ชๆ€งๅบฆใฎ็•ฐใชใ‚‹ไน็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰II๏ผ‰ใจไน้€€ๅฝขๆˆๆ€ง็ช่ตท็ฅž็ตŒ่† ่…ซ๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰III๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200089" ; + dcterms:source ; a owl:Class ; - rdfs:label "Oligodendroglioma"@en, "ไน็ช่ตท็ฅž็ตŒ่† ่…ซ"@ja ; + rdfs:label "Oligodendroglioma"@en, "ใผใ†ใจใฃใใ—ใ‚“ใ‘ใ„ใ“ใ†ใ—ใ‚…"@ja-Hira, "ไน็ช่ตท็ฅž็ตŒ่† ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "ไน็ช่ตท่† ่…ซ"@ja ; - skos:closeMatch mondo:MONDO_0002540, mondo:MONDO_0002543, mondo:MONDO_0016695, mondo:MONDO_0024498 ; + skos:closeMatch obo:MONDO_0002540, obo:MONDO_0002543, obo:MONDO_0016695 ; skos:prefLabel "ไน็ช่ตท็ฅž็ตŒ่† ่…ซ"@ja . -:2200090 - :hasNotificationNumber "58" ; - terms:description "ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ่“‹็ชฉใซ็™บ็”Ÿใ—ๆœชๅˆ†ๅŒ–ใชๅฐๅž‹็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹ใŒใ€่ตทๆบ็ดฐ่ƒžใซใฏ่ซธ่ชฌใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใใ€ๅˆ็™บๆ™‚ๆ‚ฃ่€…ใฎ15โˆ’40๏ผ…ใซ้ซ„่…”ๅ†…ๆ’ญ็จฎใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€WHOๅˆ†้กžใซใ‚ˆใ‚‹ใจใ€ๆฌกใฎ5ใคใฎ็ต„็น”ๅž‹ใŒใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„้ซ„่Šฝ่…ซใ€้€€ๅฝขๆˆๆ€ง้ซ„่Šฝ่…ซใ€ๅคง็ดฐ่ƒžๅž‹้ซ„่Šฝ่…ซใ€็ทš็ถญๅฝขๆˆๆ€ง๏ผ็ต็ฏ€ๆ€ง้ซ„่Šฝ่…ซใ€ๅบƒ็ฏ„ใชๅฐ็ต็ฏ€ๅฝขๆˆใ‚’ไผดใ†้ซ„่Šฝ่…ซใ€‚"@ja ; - terms:identifier "2200090" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ่“‹็ชฉใซ็™บ็”Ÿใ—ๆœชๅˆ†ๅŒ–ใชๅฐๅž‹็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹ใŒใ€่ตทๆบ็ดฐ่ƒžใซใฏ่ซธ่ชฌใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใใ€ๅˆ็™บๆ™‚ๆ‚ฃ่€…ใฎ15โˆ’40๏ผ…ใซ้ซ„่…”ๅ†…ๆ’ญ็จฎใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€WHOๅˆ†้กžใซใ‚ˆใ‚‹ใจใ€ๆฌกใฎ5ใคใฎ็ต„็น”ๅž‹ใŒใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„้ซ„่Šฝ่…ซใ€้€€ๅฝขๆˆๆ€ง้ซ„่Šฝ่…ซใ€ๅคง็ดฐ่ƒžๅž‹้ซ„่Šฝ่…ซใ€็ทš็ถญๅฝขๆˆๆ€ง๏ผ็ต็ฏ€ๆ€ง้ซ„่Šฝ่…ซใ€ๅบƒ็ฏ„ใชๅฐ็ต็ฏ€ๅฝขๆˆใ‚’ไผดใ†้ซ„่Šฝ่…ซใ€‚"@ja ; + dcterms:identifier "NANDO:2200090" ; + dcterms:source ; a owl:Class ; - rdfs:label "Medulloblastoma"@en, "้ซ„่Šฝ่…ซ"@ja ; + rdfs:label "Medulloblastoma"@en, "ใšใ„ใŒใ—ใ‚…"@ja-Hira, "้ซ„่Šฝ่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002794, mondo:MONDO_0002797, mondo:MONDO_0007959 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002794, obo:MONDO_0002797, obo:MONDO_0007959 ; skos:prefLabel "้ซ„่Šฝ่…ซ"@ja . -:2200091 - :hasNotificationNumber "60" ; - terms:description "ใƒˆใƒซใ‚ณ้žไธŠ้ƒจใซ็™บ็”Ÿใ—ๅšข่ƒžๅฝขๆˆใ‚’ไผดใ†ไธŠ็šฎๆ€งใฎ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใƒฉใƒˆใ‚ฑๅšข่ƒž็”ฑๆฅใจใ•ใ‚Œใ€็ต„็น”ๅญฆ็š„ใซใ‚จใƒŠใƒกใƒซไธŠ็šฎ่…ซๅž‹ใจไนณ้ ญๅž‹ใซๅˆ†้กžใงใใ€ไนณ้ ญๅž‹ใฏๅฐๅ…ใซใฏๅฐ‘ใชใ„ใ€‚"@ja ; - terms:identifier "2200091" ; - terms:source ; + + nando:hasNotificationNumber "60" ; + dcterms:description "ใƒˆใƒซใ‚ณ้žไธŠ้ƒจใซ็™บ็”Ÿใ—ๅšข่ƒžๅฝขๆˆใ‚’ไผดใ†ไธŠ็šฎๆ€งใฎ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ใƒฉใƒˆใ‚ฑๅšข่ƒž็”ฑๆฅใจใ•ใ‚Œใ€็ต„็น”ๅญฆ็š„ใซใ‚จใƒŠใƒกใƒซไธŠ็šฎ่…ซๅž‹ใจไนณ้ ญๅž‹ใซๅˆ†้กžใงใใ€ไนณ้ ญๅž‹ใฏๅฐๅ…ใซใฏๅฐ‘ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200091" ; + dcterms:source ; a owl:Class ; - rdfs:label "Craniopharyngioma"@en, "้ ญ่“‹ๅ’ฝ้ ญ่…ซ"@ja ; + rdfs:label "Craniopharyngioma"@en, "ใšใŒใ„ใ„ใ‚“ใจใ†ใ—ใ‚…"@ja-Hira, "้ ญ่“‹ๅ’ฝ้ ญ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018907 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018907 ; skos:prefLabel "้ ญ่“‹ๅ’ฝ้ ญ่…ซ"@ja . -:2200092 - :hasNotificationNumber "54" ; - terms:description "ๆพๆžœไฝ“็ดฐ่ƒžใซ้กžไผผใ—ใŸ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€ๆพๆžœไฝ“็ดฐ่ƒžใƒญใ‚ผใƒƒใƒˆใ‚’ไผดใ†ใ‚‚ใฎใจๅคงๅฐใฎ็ฅž็ตŒ็ดฐ่ƒžใŒๆททๅœจใ™ใ‚‹ๅคšๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆพๆžœไฝ“ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๆœช็†Ÿใชๆ‚ชๆ€งใฎ่…ซ็˜ใฏๆพๆžœไฝ“่Šฝ่…ซใงใ€ๅฐๅž‹ใฎๆœชๅˆ†ๅŒ–ใช็ดฐ่ƒžใฎๅ……ๅฎŸๆ€งๅข—ๆฎ–ใ‹ใ‚‰ใชใ‚Šใ€ๅ‘จๅ›ฒใธใฎๆตธๆฝคใ€้ซ„ๆถฒๆ’ญ็จฎใ‚’ใใŸใ—ใ‚„ใ™ใใ€WHOใ‚ฐใƒฌใƒผใƒ‰IVใจๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200092" ; - terms:source ; + + nando:hasNotificationNumber "54" ; + dcterms:description "ๆพๆžœไฝ“็ดฐ่ƒžใซ้กžไผผใ—ใŸ็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€ๆพๆžœไฝ“็ดฐ่ƒžใƒญใ‚ผใƒƒใƒˆใ‚’ไผดใ†ใ‚‚ใฎใจๅคงๅฐใฎ็ฅž็ตŒ็ดฐ่ƒžใŒๆททๅœจใ™ใ‚‹ๅคšๅฝขๆˆใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚ๆพๆžœไฝ“ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๆœช็†Ÿใชๆ‚ชๆ€งใฎ่…ซ็˜ใฏๆพๆžœไฝ“่Šฝ่…ซใงใ€ๅฐๅž‹ใฎๆœชๅˆ†ๅŒ–ใช็ดฐ่ƒžใฎๅ……ๅฎŸๆ€งๅข—ๆฎ–ใ‹ใ‚‰ใชใ‚Šใ€ๅ‘จๅ›ฒใธใฎๆตธๆฝคใ€้ซ„ๆถฒๆ’ญ็จฎใ‚’ใใŸใ—ใ‚„ใ™ใใ€WHOใ‚ฐใƒฌใƒผใƒ‰IVใจๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200092" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pineocytoma"@en, "ๆพๆžœไฝ“่…ซ"@ja ; + rdfs:label "Pineocytoma"@en, "ใ—ใ‚‡ใ†ใ‹ใŸใ„ใ—ใ‚…"@ja-Hira, "ๆพๆžœไฝ“่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016723 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016723 ; skos:prefLabel "ๆพๆžœไฝ“่…ซ"@ja . -:2200093 - :hasNotificationNumber "67" ; - terms:description "่„ˆ็ตกๅขไธŠ็šฎใซ้กžไผผใ—ใŸ็ดฐ่ƒžใŒไนณ้ ญ็Šถๆง‹้€ ใ‚’ไฝœใ‚‹่„ณๅฎคๅ†…่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ˆ็ตกๅขไนณ้ ญ่…ซใฏ็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใงWHO ใ‚ฐใƒฌใƒผใƒ‰Iใงใ‚ใ‚‹ใ€‚็•ฐๅž‹่„ˆ็ตกๅขไนณ้ ญ่…ซใฏๆ ธๅˆ†่ฃ‚ๆดปๆ€งใŒไบข้€ฒใ—ใŸ่„ˆ็ตกๅข่…ซ็˜ใงใ‚ใ‚ŠWHOใ‚ฐใƒฌใƒผใƒ‰IIใงใ€่„ˆ็ตกๅข็™Œใฏๆ˜Žใ‚‰ใ‹ใช้€€ๅฝขๆˆๆ‰€่ฆ‹ใ‚’็คบใ™่„ˆ็ตกๅข่…ซ็˜ใงWHOใ‚ฐใƒฌใƒผใƒ‰IIIใจๆ‚ชๆ€งๅบฆใŒๅข—ใ™ใ€‚"@ja ; - terms:identifier "2200093" ; - terms:source ; + + nando:hasNotificationNumber "67" ; + dcterms:description "่„ˆ็ตกๅขไธŠ็šฎใซ้กžไผผใ—ใŸ็ดฐ่ƒžใŒไนณ้ ญ็Šถๆง‹้€ ใ‚’ไฝœใ‚‹่„ณๅฎคๅ†…่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ˆ็ตกๅขไนณ้ ญ่…ซใฏ็”Ÿ็‰ฉๅญฆ็š„ใซ่‰ฏๆ€งใงWHO ใ‚ฐใƒฌใƒผใƒ‰Iใงใ‚ใ‚‹ใ€‚็•ฐๅž‹่„ˆ็ตกๅขไนณ้ ญ่…ซใฏๆ ธๅˆ†่ฃ‚ๆดปๆ€งใŒไบข้€ฒใ—ใŸ่„ˆ็ตกๅข่…ซ็˜ใงใ‚ใ‚ŠWHOใ‚ฐใƒฌใƒผใƒ‰IIใงใ€่„ˆ็ตกๅข็™Œใฏๆ˜Žใ‚‰ใ‹ใช้€€ๅฝขๆˆๆ‰€่ฆ‹ใ‚’็คบใ™่„ˆ็ตกๅข่…ซ็˜ใงWHOใ‚ฐใƒฌใƒผใƒ‰IIIใจๆ‚ชๆ€งๅบฆใŒๅข—ใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200093" ; + dcterms:source ; a owl:Class ; - rdfs:label "Choroid plexus papilloma"@en, "่„ˆ็ตกๅขไนณ้ ญ่…ซ"@ja ; + rdfs:label "Choroid plexus papilloma"@en, "ใฟใ‚ƒใใ‚‰ใใใ†ใซใ‚…ใ†ใจใ†ใ—ใ‚…"@ja-Hira, "่„ˆ็ตกๅขไนณ้ ญ่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009837 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009837 ; skos:prefLabel "่„ˆ็ตกๅขไนณ้ ญ่…ซ"@ja . -:2200094 - :hasNotificationNumber "59" ; - terms:description "้ซ„่†œ่ขซ็ดฐ่ƒž๏ผˆใใ‚‚่†œ็ดฐ่ƒž๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใช่…ซ็˜ใงใ€็กฌ่†œใฎๅ†…้ขใซๅ›บ็€ใ—้ซ„ๅค–ๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ€‚ๆธฆๅทปใๆง‹้€ ใ‚„็Ÿณ็ฐๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ๅคšๆง˜ใช็ต„็น”ไบœๅž‹ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใŒใ€็•ฐๅฝขๆ€งใ‚’็คบใ™ไพ‹๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใ€III๏ผ‰ใงใฏๅ†็™บใ—ใ‚„ใ™ใ„ใ€‚"@ja ; - terms:identifier "2200094" ; - terms:source ; + + nando:hasNotificationNumber "59" ; + dcterms:description "้ซ„่†œ่ขซ็ดฐ่ƒž๏ผˆใใ‚‚่†œ็ดฐ่ƒž๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใช่…ซ็˜ใงใ€็กฌ่†œใฎๅ†…้ขใซๅ›บ็€ใ—้ซ„ๅค–ๆ€งใซ็™บ่‚ฒใ™ใ‚‹ใ€‚ๆธฆๅทปใๆง‹้€ ใ‚„็Ÿณ็ฐๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ๅคšๆง˜ใช็ต„็น”ไบœๅž‹ใŒใ‚ใ‚‹ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใŒใ€็•ฐๅฝขๆ€งใ‚’็คบใ™ไพ‹๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰ IIใ€III๏ผ‰ใงใฏๅ†็™บใ—ใ‚„ใ™ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200094" ; + dcterms:source ; a owl:Class ; - rdfs:label "Meningioma"@en, "้ซ„่†œ่…ซ"@ja ; + rdfs:label "Meningioma"@en, "ใšใ„ใพใใ—ใ‚…"@ja-Hira, "้ซ„่†œ่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003057, mondo:MONDO_0016642 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003057, obo:MONDO_0016642 ; skos:prefLabel "้ซ„่†œ่…ซ"@ja . -:2200095 - :hasNotificationNumber "50" ; - terms:description "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎๅฎŸ่ณช็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่‰ฏๆ€ง่…ซ็˜๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ€็”ฃ็”Ÿใƒ›ใƒซใƒขใƒณใฎ็จฎ้กžใซใ‚ˆใฃใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็›ดๅพ„10mmใ‚ˆใ‚Šๅคงใใ„ใ‚‚ใฎใ‚’ๅทจๅคง่…ซ็˜ใจใ—ใ€10mmไปฅไธ‹ใงใƒˆใƒซใ‚ณ้žๅ†…ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‚’ๅพฎๅฐ่…บ่…ซใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200095" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎๅฎŸ่ณช็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่‰ฏๆ€ง่…ซ็˜๏ผˆWHO ใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ€็”ฃ็”Ÿใƒ›ใƒซใƒขใƒณใฎ็จฎ้กžใซใ‚ˆใฃใฆ็ดฐๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็›ดๅพ„10mmใ‚ˆใ‚Šๅคงใใ„ใ‚‚ใฎใ‚’ๅทจๅคง่…ซ็˜ใจใ—ใ€10mmไปฅไธ‹ใงใƒˆใƒซใ‚ณ้žๅ†…ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‚’ๅพฎๅฐ่…บ่…ซใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200095" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pituitary adenoma"@en, "ไธ‹ๅž‚ไฝ“่…บ่…ซ"@ja ; + rdfs:label "Pituitary adenoma"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ‚“ใ—ใ‚…"@ja-Hira, "ไธ‹ๅž‚ไฝ“่…บ่…ซ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006373 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006373 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“่…บ่…ซ"@ja . -:2200096 - :hasNotificationNumber "56" ; - terms:description "่…ซ็˜ๆ€งๆ ผใ‚’ๆŒใคๅคงๅž‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200096" ; - terms:source ; + + nando:hasNotificationNumber "56" ; + dcterms:description "่…ซ็˜ๆ€งๆ ผใ‚’ๆŒใคๅคงๅž‹ใฎ็ฅž็ตŒ็ดฐ่ƒžใจใ‚ฐใƒชใ‚ข็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹่…ซ็˜ใงใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰๏ผฉ๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200096" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ganglioglioma"@en, "็ฅž็ตŒ็ฏ€่† ่…ซ"@ja ; + rdfs:label "Ganglioglioma"@en, "ใ—ใ‚“ใ‘ใ„ใ›ใคใ“ใ†ใ—ใ‚…"@ja-Hira, "็ฅž็ตŒ็ฏ€่† ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016733 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016733 ; skos:prefLabel "็ฅž็ตŒ็ฏ€่† ่…ซ"@ja . -:2200097 - :hasNotificationNumber "57" ; - terms:description "ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ˆใๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใŸๅคงๅž‹ใฎ่…ซ็˜ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚Šใ€ๅพใ€…ใซ็™บ่‚ฒใ™ใ‚‹่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200097" ; - terms:source ; + + nando:hasNotificationNumber "57" ; + dcterms:description "ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ˆใๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใŸๅคงๅž‹ใฎ่…ซ็˜ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚Šใ€ๅพใ€…ใซ็™บ่‚ฒใ™ใ‚‹่‰ฏๆ€งใฎ่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200097" ; + dcterms:source ; a owl:Class ; - rdfs:label "Gangliocytoma"@en, "็ฅž็ตŒ็ฏ€่…ซ"@ja ; + rdfs:label "Gangliocytoma"@en, "ใ—ใ‚“ใ‘ใ„ใ›ใคใ—ใ‚…"@ja-Hira, "็ฅž็ตŒ็ฏ€่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "็ฅž็ตŒ็ฏ€็ดฐ่ƒž่…ซ"@ja ; - skos:closeMatch mondo:MONDO_0016730 ; + skos:closeMatch obo:MONDO_0016730 ; skos:prefLabel "็ฅž็ตŒ็ฏ€่…ซ"@ja . -:2200098 - :hasNotificationNumber "62" ; - terms:description "่ƒŽๅ…ๆœŸใฎ่„Š็ดขใซ็”ฑๆฅใ™ใ‚‹่…ซ็˜ใงใ€็ฒ˜ๆถฒ็ŠถๅŸบ่ณชใŒ่ฑŠๅฏŒใง็ฉบ่ƒž็Šถ็ดฐ่ƒžใŒ็ญ–็Šถ้…ๅˆ—ใ‚’ๅ‘ˆใ—ใ€่…ซ็˜ๅ‘จๅ›ฒใฎๅฑ€ๆ‰€ใ‚’็ ดๅฃŠๆ€งใซ็™บ่‚ฒใ™ใ‚‹็‰นๅพดใ‚’ๆŒใคใ€‚"@ja ; - terms:identifier "2200098" ; - terms:source ; + + nando:hasNotificationNumber "62" ; + dcterms:description "่ƒŽๅ…ๆœŸใฎ่„Š็ดขใซ็”ฑๆฅใ™ใ‚‹่…ซ็˜ใงใ€็ฒ˜ๆถฒ็ŠถๅŸบ่ณชใŒ่ฑŠๅฏŒใง็ฉบ่ƒž็Šถ็ดฐ่ƒžใŒ็ญ–็Šถ้…ๅˆ—ใ‚’ๅ‘ˆใ—ใ€่…ซ็˜ๅ‘จๅ›ฒใฎๅฑ€ๆ‰€ใ‚’็ ดๅฃŠๆ€งใซ็™บ่‚ฒใ™ใ‚‹็‰นๅพดใ‚’ๆŒใคใ€‚"@ja ; + dcterms:identifier "NANDO:2200098" ; + dcterms:source ; a owl:Class ; - rdfs:label "Gangliocytoma"@en, "่„Š็ดข่…ซ"@ja ; + rdfs:label "Chordoma"@en, "ใ›ใใ•ใใ—ใ‚…"@ja-Hira, "่„Š็ดข่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016730 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008978 ; skos:prefLabel "่„Š็ดข่…ซ"@ja . -:2200099 - :hasNotificationNumber "36" ; - terms:description "Ewing่‚‰่…ซ (Ewing's Sarcoma)ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰้’ๅนดๆœŸใซๆœ€ใ‚‚ๅคšใ็™บ็—‡ใ™ใ‚‹่‚‰่…ซใงใ€1921ๅนดEwingใซใ‚ˆใ‚Š็—…็†ๅญฆ็š„ใซๅฐๅ††ๅฝข่…ซ็˜็ดฐ่ƒžใจใ—ใฆ้ชจใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎๅคๅ…ธ็š„ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใจๆœซๆขขๆ€ง็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜(peripheral primitive neuroectodermal tumor, PNET)ใ€่ƒธๅฃใ‚ขใ‚นใ‚ญใƒณ่…ซ็˜(Askin tumor)ใฏใ€ๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„็ ”็ฉถใซใ‚ˆใ‚Š้–“่‘‰็ณปๅนน็ดฐ่ƒžใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ๅŒไธ€ใฎ้บไผๅญๅค‰็•ฐใ€EWS-FLI-1 (85%)ใ€EWS-ERG (10%)ใ€EWS-ETV1ใ€EWS-EIAFใ€EWS-FEVใชใฉใฎใ‚ญใƒกใƒฉ้บไผๅญใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใƒฆใƒผใ‚คใƒณใ‚ฐ่‚‰่…ซใƒ•ใ‚กใƒŸใƒชใƒผ่…ซ็˜๏ผˆEwing's sarcoma family of tumors, ESFT)ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚่จบๆ–ญใฏใ€็—…็†ๅญฆ็š„่จบๆ–ญใซๅŠ ใˆๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„่จบๆ–ญใ‚’่กŒใ†ใ“ใจใงใ‚ˆใ‚Š็ขบๅฎŸใจใชใ‚‹ใ€‚็—…ๆœŸใฏใ€้™ๅฑ€ไพ‹ใจ่ปข็งปไพ‹ใซๅˆ†้กžใ•ใ‚Œใ€ไบˆๅพŒใ‚‚ๆ˜Žใ‚‰ใ‹ใซ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏใ€ๅŒ–ๅญฆ็™‚ๆณ•ใฎ้€ฒๆญฉใจใจใ‚‚ใซๆฒป็™‚ๆˆ็ธพใฎๆ”นๅ–„ใ‚’่ชใ‚ใฆใŠใ‚Šใ€ๅค–็ง‘ๆฒป็™‚ใ€ๆ”พๅฐ„็ทšๆฒป็™‚ใจ็ต„ใฟๅˆใ‚ใ›ใŸ้›†ๅญฆ็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200099" ; - terms:source ; - a owl:Class ; - rdfs:label "primitive neuroectodermal tumour"@en, "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja . - -:2200100 - :hasNotificationNumber "36" ; - terms:identifier "2200100" ; - terms:source ; - a owl:Class ; - rdfs:label "Primitive neuroectodermal tumour of the central nervous system"@en, "ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja . - -:2200101 - :hasNotificationNumber "49" ; - terms:description "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(AT/RT)ใฏไธญๆžข็ฅž็ตŒ็ณปใซ็™บ็”Ÿใ™ใ‚‹ๆฅตใ‚ใฆๆ‚ชๆ€งๅบฆใฎ้ซ˜ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚1987ๅนดใซไธญๆžข็ฅž็ตŒ็ณปใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ—ใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ€2000ๅนดใ‹ใ‚‰ๆญฃๅผใซWHOๅˆ†้กžใซๅ–ใ‚Šๅ…ฅใ‚Œใ‚‰ใ‚ŒใŸๆ–ฐใ—ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚WHOๅˆ†้กžใงใฏGrade IVใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅพ“ๆฅใฏ้ซ„่Šฝ่…ซใ‚„ไธŠ่กฃ่…ซใ€่„ˆ็ตกๅข็™Œใชใฉใจใ—ใฆ่จบๆ–ญใƒปๆฒป็™‚ใ•ใ‚Œใฆใ„ใŸใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…็–ซ็ต„็น”ๆŸ“่‰ฒใง่…ซ็˜็ดฐ่ƒžใŒINI-1้™ฐๆ€งใจใชใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200101" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical teratoid, rhabdoid tumour"@en, "็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja ; + + nando:hasNotificationNumber "66" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็ณป่ƒš่Šฝ่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹่„ณ่…ซ็˜ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใƒ†ใƒณใƒˆไธŠใซ็™บ็”Ÿใ—ใ€ๆœช็†Ÿใช็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง็ดฐ่ƒžใ‹ใ‚‰ใชใ‚‹็ต„็น”ๅญฆ็š„ใซๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚่„ณ่„Š้ซ„ๆถฒใ‚’ไป‹ใ—ใฆ้ซ„่…”ๅ†…ใซๆ’ญ็จฎใ—ใ‚„ใ™ใ้žๅธธใซๆ‚ชๆ€งๅบฆใŒ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200099" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primitive neuroectodermal tumour of the central nervous system"@en, "ใฟใถใ‚“ใ‹ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†๏ผˆใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฎใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆไธญๆžขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Central nervous system primitive neuroectodermal tumor"@en, "ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja ; + skos:closeMatch obo:MONDO_0000640 ; + skos:prefLabel "ๆœชๅˆ†ๅŒ–็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜๏ผˆไธญๆžขๆ€งใฎใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . + + + dcterms:identifier "NANDO:2200100" ; + a owl:Class ; + rdfs:label "Primitive neuroectodermal tumour of the central nervous system"@en, "obsolete ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja, "ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ’ใ‚“ใ—ใ—ใ‚“ใ‘ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ›ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira ; + rdfs:subClassOf ; + rdfs:subClassof ; + owl:deprecated true ; + skos:altLabel "Central nervous system primitive neuroectodermal tumor"@en ; + skos:prefLabel "obsolete ไธญๆžข็ฅž็ตŒ็ณปๅŽŸๅง‹็ฅž็ตŒๅค–่ƒš่‘‰ๆ€ง่…ซ็˜"@ja . + + + nando:hasNotificationNumber "49" ; + dcterms:description "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜(AT/RT)ใฏไธญๆžข็ฅž็ตŒ็ณปใซ็™บ็”Ÿใ™ใ‚‹ๆฅตใ‚ใฆๆ‚ชๆ€งๅบฆใฎ้ซ˜ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚1987ๅนดใซไธญๆžข็ฅž็ตŒ็ณปใฎๆ‚ชๆ€งใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜ใจใ—ใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€1993ๅนดใซ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ€2000ๅนดใ‹ใ‚‰ๆญฃๅผใซWHOๅˆ†้กžใซๅ–ใ‚Šๅ…ฅใ‚Œใ‚‰ใ‚ŒใŸๆ–ฐใ—ใ„่…ซ็˜ใงใ‚ใ‚‹ใ€‚WHOๅˆ†้กžใงใฏGrade IVใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€ๅพ“ๆฅใฏ้ซ„่Šฝ่…ซใ‚„ไธŠ่กฃ่…ซใ€่„ˆ็ตกๅข็™Œใชใฉใจใ—ใฆ่จบๆ–ญใƒปๆฒป็™‚ใ•ใ‚Œใฆใ„ใŸใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…็–ซ็ต„็น”ๆŸ“่‰ฒใง่…ซ็˜็ดฐ่ƒžใŒINI-1้™ฐๆ€งใจใชใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200101" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical teratoid, rhabdoid tumour"@en, "ใ„ใ‘ใ„ใใ‘ใ„ใ—ใ‚…ใ‚ˆใ†๏ผใ‚‰ใถใฉใ„ใฉใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "AT/RT"@en, "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja ; - skos:closeMatch mondo:MONDO_0012252, mondo:MONDO_0020560 ; + rdfs:subClassOf ; + skos:altLabel "AT/RT"@en, "AT/RT"@ja, "้žๅฎšๅž‹ๅฅ‡ๅฝข่…ซๆง˜ใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja ; + skos:closeMatch obo:MONDO_0020560 ; skos:prefLabel "็•ฐๅž‹ๅฅ‡ๅฝข่…ซ็˜๏ผใƒฉใƒ–ใƒ‰ใ‚คใƒ‰่…ซ็˜"@ja . -:2200102 - :hasNotificationNumber "48" ; - terms:description "ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜ใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹ๅ†…ใ‚„่„ŠๆคŽ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200102" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:description "ๆœ€่ฟ‘ใงใฏๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜ใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹ๅ†…ใ‚„่„ŠๆคŽ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ—ใ€็ต„็น”ๅญฆ็š„ใซใฏๆ ธๅˆ†่ฃ‚ๅƒใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ๆ‚ชๆ€งใฎ่…ซ็˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200102" ; + dcterms:source ; a owl:Class ; - rdfs:label "Malignant neurinoma"@en, "ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ"@ja ; + rdfs:label "Malignant neurinoma"@en, "ใ‚ใใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใ—ใ‚…"@ja-Hira, "ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "ๆ‚ชๆ€งๆœซๆขข็ฅž็ตŒ้ž˜่…ซ็˜"@ja ; + skos:closeMatch obo:MONDO_0017827 ; skos:prefLabel "ๆ‚ชๆ€ง็ฅž็ตŒ้ž˜่…ซ"@ja . -:2200103 - :hasNotificationNumber "55" ; - terms:description "ๅˆ†ๅŒ–ใ—ใŸใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ—ใฆใฏ้ ญ่“‹ๅ†…ใ‚„่„ŠๆŸฑ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ๆœซๆขข็ฅž็ตŒใซ้€ฃ็ถšใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใง่ขซ่†œใซ่ฆ†ใ‚ใ‚ŒใŸ่…ซ็˜คใ‚’ๅฝขๆˆใ—ใ€ๆ ธใฎๆฃš็Šถ้…ๅˆ—ใ‚„็ดฐ่ƒžใฎ็ฒ—ๅฏ†้…ๅˆ—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200103" ; - terms:source ; + + nando:hasNotificationNumber "55" ; + dcterms:description "ๅˆ†ๅŒ–ใ—ใŸใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€ง่…ซ็˜๏ผˆWHOใ‚ฐใƒฌใƒผใƒ‰I๏ผ‰ใงใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ—ใฆใฏ้ ญ่“‹ๅ†…ใ‚„่„ŠๆŸฑ็ฎกๅ†…ใฎๆœซๆขข็ฅž็ตŒ๏ผˆ่„ณ็ฅž็ตŒใ‚„่„Š้ซ„็ฅž็ตŒๆ น๏ผ‰ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ใ€‚ๆœซๆขข็ฅž็ตŒใซ้€ฃ็ถšใ™ใ‚‹ๅขƒ็•Œๆ˜Ž็žญใง่ขซ่†œใซ่ฆ†ใ‚ใ‚ŒใŸ่…ซ็˜คใ‚’ๅฝขๆˆใ—ใ€ๆ ธใฎๆฃš็Šถ้…ๅˆ—ใ‚„็ดฐ่ƒžใฎ็ฒ—ๅฏ†้…ๅˆ—ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200103" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neurinoma"@en, "็ฅž็ตŒ้ž˜่…ซ"@ja ; + rdfs:label "Neurinoma"@en, "ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใ—ใ‚…"@ja-Hira, "็ฅž็ตŒ้ž˜่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002546, mondo:MONDO_0008075 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002546 ; skos:prefLabel "็ฅž็ตŒ้ž˜่…ซ"@ja . -:2200104 - :hasNotificationNumber "51" ; - terms:description "ๅฅ‡ๅฝข่…ซใฏใ€้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜๏ผˆgerm cell tumor๏ผ‰ใฎ๏ผ‘็จฎใงใ‚ใ‚Šใ€2007ๅนดใฎWHO็—…็†ๅˆ†้กžใงใฏใ€ใ•ใ‚‰ใซโ‘  ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ๏ผˆmature teratoma๏ผ‰โ‘ก ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ(immature teratoma)โ‘ข ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ๏ผˆteratoma with malignant transformation๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‰่ƒš่‘‰ใฎๆˆๅˆ†ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใžใ‚Œใฎๆˆๅˆ†ใŒใ™ในใฆๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๅ…จไฝ“ใพใŸใฏไธ€้ƒจใŒๆœช็†Ÿใชๅฝขๆ…‹ใ‚’็คบใ™ใ‚‚ใฎใฏๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๆˆ็†Ÿๅฅ‡ๅฝข่…ซใฎไธ€้ƒจใŒๆ‚ชๆ€งใฎ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใฏๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่…ซ็˜ใฏใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅฅ‡ๅฝข่…ซไปฅๅค–ใฎไป–ใฎ่ƒš็ดฐ่ƒž่…ซ็˜ใจๆททๅœจใ—ใ€ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่„ณใƒป่„Š้ซ„ไปฅๅค–ใฎๅฅ‡ๅฝข่…ซใจๅŒๆง˜ใฎ็—…็†็ต„็น”ๆ‰€่ฆ‹ใ‚’ใจใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใชใฉใฎ็›ธ้•ใ‹ใ‚‰ใ€่จบๆ–ญใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚Šใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ไนณๅนผๅ…ใงใฎ็™บ็—‡ใฏใ€ๅคšใใฏๅ…ˆๅคฉๆ€ง่„ณ่…ซ็˜ใงใ‚ใ‚Šๆˆ็†Ÿๅฅ‡ๅฝข่…ซใŒๅคšใ„ใ€‚ๅนด้•ทๅ…ใ€ๆˆไบบใงใฏใปใจใ‚“ใฉใŒๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใฎไธ€้ƒจใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200104" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ๅฅ‡ๅฝข่…ซใฏใ€้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜๏ผˆgerm cell tumor๏ผ‰ใฎ๏ผ‘็จฎใงใ‚ใ‚Šใ€2007ๅนดใฎWHO็—…็†ๅˆ†้กžใงใฏใ€ใ•ใ‚‰ใซโ‘  ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ๏ผˆmature teratoma๏ผ‰โ‘ก ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ(immature teratoma)โ‘ข ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ๏ผˆteratoma with malignant transformation๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‰่ƒš่‘‰ใฎๆˆๅˆ†ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹่…ซ็˜ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใžใ‚Œใฎๆˆๅˆ†ใŒใ™ในใฆๆˆ็†Ÿๅˆ†ๅŒ–ใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๅ…จไฝ“ใพใŸใฏไธ€้ƒจใŒๆœช็†Ÿใชๅฝขๆ…‹ใ‚’็คบใ™ใ‚‚ใฎใฏๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซใ€ๆˆ็†Ÿๅฅ‡ๅฝข่…ซใฎไธ€้ƒจใŒๆ‚ชๆ€งใฎ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใฏๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่…ซ็˜ใฏใ€ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€ๅฅ‡ๅฝข่…ซไปฅๅค–ใฎไป–ใฎ่ƒš็ดฐ่ƒž่…ซ็˜ใจๆททๅœจใ—ใ€ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่„ณใƒป่„Š้ซ„ไปฅๅค–ใฎๅฅ‡ๅฝข่…ซใจๅŒๆง˜ใฎ็—…็†็ต„็น”ๆ‰€่ฆ‹ใ‚’ใจใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใชใฉใฎ็›ธ้•ใ‹ใ‚‰ใ€่จบๆ–ญใƒปๆฒป็™‚ๆณ•ใŒ็•ฐใชใ‚Šใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚ไนณๅนผๅ…ใงใฎ็™บ็—‡ใฏใ€ๅคšใใฏๅ…ˆๅคฉๆ€ง่„ณ่…ซ็˜ใงใ‚ใ‚Šๆˆ็†Ÿๅฅ‡ๅฝข่…ซใŒๅคšใ„ใ€‚ๅนด้•ทๅ…ใ€ๆˆไบบใงใฏใปใจใ‚“ใฉใŒๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜ใฎไธ€้ƒจใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200104" ; + dcterms:source ; a owl:Class ; - rdfs:label "Teratoma of the central nervous system"@en, "ๅฅ‡ๅฝข่…ซ"@ja ; + rdfs:label "Teratoma of the central nervous system"@en, "ใใ‘ใ„ใ—ใ‚…"@ja-Hira, "ๅฅ‡ๅฝข่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002718 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002718 ; skos:prefLabel "ๅฅ‡ๅฝข่…ซ"@ja . -:2200105 - :hasNotificationNumber "51" ; - terms:identifier "2200105" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:identifier "NANDO:2200105" ; + dcterms:source ; a owl:Class ; - rdfs:label "mature teratoma"@en, "ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ"@ja ; + rdfs:label "Mature teratoma"@en, "ใ›ใ„ใ˜ใ‚…ใใใ‘ใ„ใ—ใ‚…"@ja-Hira, "ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003517, mondo:MONDO_0003733, mondo:MONDO_0003820 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003517 ; skos:prefLabel "ๆˆ็†Ÿๅฅ‡ๅฝข่…ซ"@ja . -:2200106 - :hasNotificationNumber "51" ; - terms:identifier "2200106" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:identifier "NANDO:2200106" ; + dcterms:source ; a owl:Class ; - rdfs:label "immature teratoma"@en, "ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ"@ja ; + rdfs:label "Immature teratoma"@en, "ใฟใ›ใ„ใ˜ใ‚…ใใใ‘ใ„ใ—ใ‚…"@ja-Hira, "ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003514, mondo:MONDO_0003735, mondo:MONDO_0018369, mondo:MONDO_0024746 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024746 ; skos:prefLabel "ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซ"@ja . -:2200107 - :hasNotificationNumber "51" ; - terms:identifier "2200107" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:identifier "NANDO:2200107" ; + dcterms:source ; a owl:Class ; - rdfs:label "teratoma with malignant transformation"@en, "ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ"@ja ; + rdfs:label "Teratoma with malignant transformation"@en, "ใ‚ใใ›ใ„ใฆใ‚“ใ‹ใ‚’ใจใ‚‚ใชใ†ใใ‘ใ„ใ—ใ‚…"@ja-Hira, "ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006444 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006444 ; skos:prefLabel "ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซ"@ja . -:2200108 - :hasNotificationNumber "61" ; - terms:description "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜(germ cell tumors, GCT)ใฏใ€ๆพๆžœไฝ“้ƒจใ‚„้žไธŠ้ƒจใซ็™บ็—‡ใ™ใ‚‹ๆง˜ใ€…ใช่…ซ็˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ๅคšๆง˜ใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ใฏ2007ๅนดใฎWHOใฎ็—…็†ๅญฆ็š„ๅˆ†้กžใงใฏๆฌกใฎ6ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚โ‘  ใ‚ธใƒฃใƒผใƒŸใƒŽใƒผใƒž๏ผˆ่ƒš่…ซ๏ผ‰(germinoma)โ‘ก ่ƒŽๅ…ๆ€ง็™Œ(embryonal carcinoma)โ‘ข ๅต้ป„ๅšข่…ซ็˜(yolk sac tumor) โ‘ฃ ็ตจๆฏ›็™Œ(choriocarcinoma)โ‘ค ๅฅ‡ๅฝข่…ซ(teratoma)๏ผˆๆˆ็†Ÿๅฅ‡ๅฝข่…ซmature teratoma/ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซimmature teratoma/ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซteratoma with malignant transforamtion๏ผ‰โ‘ฅ ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜(mixed germ cell tumors)ๆททๅˆๆ€ง่…ซ็˜ใฏใ€่…ซ็˜ๅ†…ใซไธŠ่จ˜ใฎ โ‘  ใ€œ โ‘ค ใฎ่…ซ็˜ใŒ2็จฎ้กžไปฅไธŠๆททๅœจใ—ใฆ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅค–ใซใ‚‚็—…็†็ต„็น”ใฎ้กžไผผใ—ใŸ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใฎ้•ใ„ใ‹ใ‚‰้ ญ่“‹ๅค–ใฎ่…ซ็˜ใจใฏ็•ฐใชใฃใŸ่จบๆ–ญใƒปๆฒป็™‚ๆ–นๆณ•ใŒใจใ‚‰ใ‚Œใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200108" ; - terms:source ; + + nando:hasNotificationNumber "61" ; + dcterms:description "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜(germ cell tumors, GCT)ใฏใ€ๆพๆžœไฝ“้ƒจใ‚„้žไธŠ้ƒจใซ็™บ็—‡ใ™ใ‚‹ๆง˜ใ€…ใช่…ซ็˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ๅคšๆง˜ใช็—…ๅค‰ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜ใฏ2007ๅนดใฎWHOใฎ็—…็†ๅญฆ็š„ๅˆ†้กžใงใฏๆฌกใฎ6ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚โ‘  ใ‚ธใƒฃใƒผใƒŸใƒŽใƒผใƒž๏ผˆ่ƒš่…ซ๏ผ‰(germinoma)โ‘ก ่ƒŽๅ…ๆ€ง็™Œ(embryonal carcinoma)โ‘ข ๅต้ป„ๅšข่…ซ็˜(yolk sac tumor) โ‘ฃ ็ตจๆฏ›็™Œ(choriocarcinoma)โ‘ค ๅฅ‡ๅฝข่…ซ(teratoma)๏ผˆๆˆ็†Ÿๅฅ‡ๅฝข่…ซmature teratoma/ๆœชๆˆ็†Ÿๅฅ‡ๅฝข่…ซimmature teratoma/ๆ‚ชๆ€ง่ปขๅŒ–ใ‚’ไผดใ†ๅฅ‡ๅฝข่…ซteratoma with malignant transforamtion๏ผ‰โ‘ฅ ๆททๅˆๆ€ง่ƒš็ดฐ่ƒž่…ซ็˜(mixed germ cell tumors)ๆททๅˆๆ€ง่…ซ็˜ใฏใ€่…ซ็˜ๅ†…ใซไธŠ่จ˜ใฎ โ‘  ใ€œ โ‘ค ใฎ่…ซ็˜ใŒ2็จฎ้กžไปฅไธŠๆททๅœจใ—ใฆ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅค–ใซใ‚‚็—…็†็ต„็น”ใฎ้กžไผผใ—ใŸ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€็™บ็—‡้ƒจไฝใฎ้•ใ„ใ‹ใ‚‰้ ญ่“‹ๅค–ใฎ่…ซ็˜ใจใฏ็•ฐใชใฃใŸ่จบๆ–ญใƒปๆฒป็™‚ๆ–นๆณ•ใŒใจใ‚‰ใ‚Œใ€ไบˆๅพŒใ‚‚็•ฐใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200108" ; + dcterms:source ; a owl:Class ; - rdfs:label "Intracranial germ cell tumour"@en, "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜"@ja ; + rdfs:label "Intracranial germ cell tumour"@en, "ใšใŒใ„ใชใ„ใฏใ„ใ•ใ„ใผใ†ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004218 ; skos:prefLabel "้ ญ่“‹ๅ†…่ƒš็ดฐ่ƒž่…ซ็˜"@ja . -:2200109 - :hasNotificationNumber "69" ; - terms:description "้ ญ่“‹ๅ†…ใ‚ใ‚‹ใ„ใฏ่„ŠๆŸฑ็ฎกๅ†…ใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ๆ€ง็—…ๅค‰ใฏใ€ๅŽŸ็™บๆ€งใ€่ปข็งปๆ€งใซ้–ขใ‚ใ‚‰ใšใ€ใพใŸๆ‚ชๆ€งๅบฆใซ้–ขใ‚ใ‚‰ใšไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200109" ; - terms:source ; + + nando:hasNotificationNumber "69" ; + dcterms:description "้ ญ่“‹ๅ†…ใ‚ใ‚‹ใ„ใฏ่„ŠๆŸฑ็ฎกๅ†…ใซ็™บ็”Ÿใ—ใŸ่…ซ็˜ๆ€ง็—…ๅค‰ใฏใ€ๅŽŸ็™บๆ€งใ€่ปข็งปๆ€งใซ้–ขใ‚ใ‚‰ใšใ€ใพใŸๆ‚ชๆ€งๅบฆใซ้–ขใ‚ใ‚‰ใšไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜ใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200109" ; + dcterms:source ; a owl:Class ; - rdfs:label "70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜"@ja, "Other tumours of the central nervous system"@en ; + rdfs:label "70ใ‹ใ‚‰90ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜"@ja, "Other tumours of the central nervous system"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "70ใ‹ใ‚‰90ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธญๆžข็ฅž็ตŒ็ณป่…ซ็˜"@ja . -:2200110 - :hasNotificationNumber "23" ; - terms:description "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(congenital nephrotic syndrome๏ผšCNS)ใจใใ‚Œไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(infantile NS๏ผšINS)ใจใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽCNSใ‚’ไปฃ่กจใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (congenital nephrotic syndrome of the Finnish type: CNF)ใงใ‚ใ‚‹(1, 2)ใ€‚"@ja ; - terms:identifier "2200110" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(congenital nephrotic syndrome๏ผšCNS)ใจใใ‚Œไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค(infantile NS๏ผšINS)ใจใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽCNSใ‚’ไปฃ่กจใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (congenital nephrotic syndrome of the Finnish type: CNF)ใงใ‚ใ‚‹(1, 2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200110" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital nephrotic syndrome of the Finnish type"@en, "ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; + rdfs:label "Congenital nephrotic syndrome of the Finnish type"@en, "ใตใƒใ‚“ใ‚‰ใ‚“ใฉใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "CNF"@en ; - skos:closeMatch mondo:MONDO_0009732 ; + skos:closeMatch obo:MONDO_0009732 ; skos:prefLabel "ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja . -:2200111 - :hasNotificationNumber "22" ; - terms:description "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎใ†ใก๏ผŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค๏ผˆINS๏ผ‰ใซๅˆ†้กžใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใŒ็™บ็—‡ใ—๏ผŒ็™บ็—‡ๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซๆœซๆœŸ่…Žไธๅ…จใซใชใ‚‹๏ผŽใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ใฎๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ็•ฐใชใ‚Š๏ผŒ็พŠๆฐดไธญใฎฮฑใƒ•ใ‚งใƒˆใƒ—ใƒญใƒ†ใ‚คใƒณใ‚„่ƒŽ็›ค้‡้‡ใฏ้€šๅธธ๏ผŒๆญฃๅธธใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200111" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "็”ŸๅพŒ1ๅนดไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎใ†ใก๏ผŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค๏ผˆINS๏ผ‰ใซๅˆ†้กžใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏ็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใŒ็™บ็—‡ใ—๏ผŒ็™บ็—‡ๅพŒๆ•ฐใ‹ๆœˆไปฅๅ†…ใซๆœซๆœŸ่…Žไธๅ…จใซใชใ‚‹๏ผŽใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ใฎๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ็•ฐใชใ‚Š๏ผŒ็พŠๆฐดไธญใฎฮฑใƒ•ใ‚งใƒˆใƒ—ใƒญใƒ†ใ‚คใƒณใ‚„่ƒŽ็›ค้‡้‡ใฏ้€šๅธธ๏ผŒๆญฃๅธธใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200111" ; + dcterms:source ; a owl:Class ; - rdfs:label "Diffuse mesangial sclerosis"@en, "ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Diffuse mesangial sclerosis"@en, "ใณใพใ‚“ใ›ใ„ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "DMS"@en ; - skos:closeMatch mondo:MONDO_0009733 ; + skos:closeMatch obo:MONDO_0019654 ; skos:prefLabel "ใณใพใ‚“ๆ€งใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็กฌๅŒ–็—‡"@ja . -:2200112 - :hasNotificationNumber "21" ; - terms:description "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡ๅ€™ๅˆ†้กžใซใฆใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซๅ…‰ๅญฆ้ก•ๅพฎ้กไธŠใฏใปใจใ‚“ใฉๅค‰ๅŒ–ใ‚’่ชใ‚ใชใ„ (minor glomerular abnormalities) ็–พๆ‚ฃใ‚’๏ผŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (minimal change nephrotic syndrome: MCNS) ใจใ—ใฆใ„ใ‚‹ใ€‚๏ผ‘ๅนด้–“ใซๅฐๅ…10ไธ‡ไบบใซ2๏ฝž5ไบบใŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็™บ็—‡ใ—๏ผŒๅฐๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ็ด„90%ใฏๅŽŸๅ› ไธๆ˜Žใช็‰น็™บๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒใ•ใ‚‰ใซใใฎ็ด„90๏ผ…ใŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200112" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡ๅ€™ๅˆ†้กžใซใฆใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซๅ…‰ๅญฆ้ก•ๅพฎ้กไธŠใฏใปใจใ‚“ใฉๅค‰ๅŒ–ใ‚’่ชใ‚ใชใ„ (minor glomerular abnormalities) ็–พๆ‚ฃใ‚’๏ผŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค (minimal change nephrotic syndrome: MCNS) ใจใ—ใฆใ„ใ‚‹ใ€‚๏ผ‘ๅนด้–“ใซๅฐๅ…10ไธ‡ไบบใซ2๏ฝž5ไบบใŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็™บ็—‡ใ—๏ผŒๅฐๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ็ด„90%ใฏๅŽŸๅ› ไธๆ˜Žใช็‰น็™บๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒใ•ใ‚‰ใซใใฎ็ด„90๏ผ…ใŒๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200112" ; + dcterms:source ; a owl:Class ; - rdfs:label "Minimal change nephrotic syndrome"@en, "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Minimal change nephrotic syndrome"@en, "ใณใ—ใ‚‡ใ†ใธใ‚“ใ‹ใŒใŸใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "MCNS"@en ; - skos:closeMatch mondo:MONDO_0006835 ; + skos:closeMatch obo:MONDO_0006835 ; skos:prefLabel "ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja . -:2200113 - :hasNotificationNumber "20" ; - terms:description "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–ใฏใ€ๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใจใ„ใ†็—…็†ๅฝขๆ…‹ๅƒใ‚’่กจ็พใ™ใ‚‹็”จ่ชžใงใ‚ใ‚Šใ€่…Ž็šฎ่ณชๆทฑๅฑค(็šฎ้ซ„ๅขƒ็•Œ)ใฎไธ€้ƒจใฎ็ณธ็ƒไฝ“(ๅทฃ็Šถ)ใซๅˆ†็ฏ€็Šถใฎ็กฌๅŒ–ใ‚’่ชใ‚ใ‚‹ใ“ใจใง็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็ณธ็ƒไฝ“ๆ•ฐใฎ50๏ผ…ไปฅไธ‹ใซใ€ๅˆ†็ฏ€ๆ€ง(50๏ผ…/็ณธ็ƒไฝ“ไปฅไธ‹)ใฎๆฏ›็ดฐ่ก€็ฎก่™š่„ฑ(ใจๅŸบ่ณชใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ“ใจใฎ2ใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็ณธ็ƒไฝ“็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎไธญใซใ€่‡จๅบŠ็š„ใซ้ซ˜ๅบฆใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ‚’ไผดใ„ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงใ€ๅพใ€…ใซ่…ŽๆฉŸ่ƒฝ้šœๅฎณใŒ้€ฒๅฑ•ใ™ใ‚‹็–พๆ‚ฃ็พคใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹FSGSใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚็พๅœจใงใฏใ€FSGSใฎไธญใซใฏ็ต„็น”ๅญฆ็š„ใซๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅซใพใ‚Œใ€ใพใŸใ€ๅŽŸๅ› ใ‚„็—…ๆ…‹ใŒๆ˜Žใ‚‰ใ‹ใชไบŒๆฌกๆ€งใฎFSGSใ‚‚ๅŠ ใ‚ใ‚Šใ€่ค‡้›‘ใช็–พๆ‚ฃ็พคใซใ‚ˆใ‚Šๆง‹็ฏ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2004ๅนดใซใ‚ณใƒญใƒณใƒ“ใ‚ขๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€FSGSใฏ่‡จๅบŠ็š„ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ€้€šๅธธใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใ€ๅ…‰้ก•็š„ใซใฏ็ณธ็ƒไฝ“ใซๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็กฌๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ€้›ป้ก•็š„ใซๅบƒ็ฏ„ใช็ณธ็ƒไฝ“ไธŠ็šฎ็ดฐ่ƒžใฎ่ถณ็ช่ตทใฎๆถˆๅคฑ(effacement)ใ‚’ๅ‘ˆใ™ใ‚‹่‡จๅบŠ็—…็†ๅญฆ็š„็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚"@ja ; - terms:identifier "2200113" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–ใฏใ€ๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใจใ„ใ†็—…็†ๅฝขๆ…‹ๅƒใ‚’่กจ็พใ™ใ‚‹็”จ่ชžใงใ‚ใ‚Šใ€่…Ž็šฎ่ณชๆทฑๅฑค(็šฎ้ซ„ๅขƒ็•Œ)ใฎไธ€้ƒจใฎ็ณธ็ƒไฝ“(ๅทฃ็Šถ)ใซๅˆ†็ฏ€็Šถใฎ็กฌๅŒ–ใ‚’่ชใ‚ใ‚‹ใ“ใจใง็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏใ€็ณธ็ƒไฝ“ๆ•ฐใฎ50๏ผ…ไปฅไธ‹ใซใ€ๅˆ†็ฏ€ๆ€ง(50๏ผ…/็ณธ็ƒไฝ“ไปฅไธ‹)ใฎๆฏ›็ดฐ่ก€็ฎก่™š่„ฑ(ใจๅŸบ่ณชใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ“ใจใฎ2ใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช็ณธ็ƒไฝ“็—…ๅค‰ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎไธญใซใ€่‡จๅบŠ็š„ใซ้ซ˜ๅบฆใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ‚’ไผดใ„ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงใ€ๅพใ€…ใซ่…ŽๆฉŸ่ƒฝ้šœๅฎณใŒ้€ฒๅฑ•ใ™ใ‚‹็–พๆ‚ฃ็พคใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹FSGSใจใ—ใฆ็ขบ็ซ‹ใ•ใ‚ŒใŸใ€‚็พๅœจใงใฏใ€FSGSใฎไธญใซใฏ็ต„็น”ๅญฆ็š„ใซๅˆ†็ฏ€ๆ€งใฎ็ณธ็ƒไฝ“็กฌๅŒ–็—…ๅค‰ใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃ็พคใ‚‚ๅซใพใ‚Œใ€ใพใŸใ€ๅŽŸๅ› ใ‚„็—…ๆ…‹ใŒๆ˜Žใ‚‰ใ‹ใชไบŒๆฌกๆ€งใฎFSGSใ‚‚ๅŠ ใ‚ใ‚Šใ€่ค‡้›‘ใช็–พๆ‚ฃ็พคใซใ‚ˆใ‚Šๆง‹็ฏ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2004ๅนดใซใ‚ณใƒญใƒณใƒ“ใ‚ขๅˆ†้กžใŒๆๅ”ฑใ•ใ‚Œใ€FSGSใฏ่‡จๅบŠ็š„ใซใ‚ฟใƒณใƒ‘ใ‚ฏๅฐฟใ€้€šๅธธใฏใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’ๅ‘ˆใ—ใ€ๅ…‰้ก•็š„ใซใฏ็ณธ็ƒไฝ“ใซๅทฃ็Šถๅˆ†็ฏ€ๆ€งใฎ็กฌๅŒ–็—…ๅค‰ใ‚’่ชใ‚ใ€้›ป้ก•็š„ใซๅบƒ็ฏ„ใช็ณธ็ƒไฝ“ไธŠ็šฎ็ดฐ่ƒžใฎ่ถณ็ช่ตทใฎๆถˆๅคฑ(effacement)ใ‚’ๅ‘ˆใ™ใ‚‹่‡จๅบŠ็—…็†ๅญฆ็š„็—‡ๅ€™็พคใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200113" ; + dcterms:source ; a owl:Class ; - rdfs:label "Focal segmental glomerulosclerosis"@en, "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Focal segmental glomerulosclerosis"@en, "ใใ†ใ˜ใ‚‡ใ†ใถใ‚“ใ›ใคใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "FSGS"@en ; - skos:closeMatch mondo:MONDO_0005363 ; + skos:closeMatch obo:MONDO_0005363 ; skos:prefLabel "ๅทฃ็Šถๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡"@ja . -:2200114 - :hasNotificationNumber "24" ; - terms:description "่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็ณธ็ƒไฝ“ๅŸบๅบ•่†œไธŠ็šฎไธ‹ใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใจใ“ใ‚Œใซๅผ•ใ็ถšใ„ใฆ่ตทใ“ใ‚‹็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎๅๅฟœๆ€งๅค‰ๅŒ–๏ผˆใณใพใ‚“ๆ€ง่‚ฅๅŽš๏ผŒใ‚นใƒ‘ใ‚คใ‚ฏๅฝขๆˆ๏ผŒ็‚นๅˆปๅƒ๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒ่ฃœไฝ“ๆดปๆ€งๅŒ–ใชใฉใฎ็พ่ฑกใฏ็‚Ž็—‡ใฎไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰๏ผŒWHOๅˆ†้กž1ใงใฏ่†œๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranous glomerulonephritis)ใจใ—ใฆใ„ใ‚‹2ใ€‚ๆˆไบบใงใฏ๏ผŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ20๏ฝž30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใŒ๏ผŒๅฐๅ…ใงใฏ็™บ็—‡้ ปๅบฆใฏๅฐ‘ใชใ„ใ€‚่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็‰น็™บๆ€งใจ่† ๅŽŸ็—…๏ผŒๆ„ŸๆŸ“็—‡๏ผŒ่–ฌๅ‰ค๏ผŒๆ‚ชๆ€ง่…ซ็˜ใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚"@ja ; - terms:identifier "2200114" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็ณธ็ƒไฝ“ๅŸบๅบ•่†œไธŠ็šฎไธ‹ใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใจใ“ใ‚Œใซๅผ•ใ็ถšใ„ใฆ่ตทใ“ใ‚‹็ณธ็ƒไฝ“ๅŸบๅบ•่†œใฎๅๅฟœๆ€งๅค‰ๅŒ–๏ผˆใณใพใ‚“ๆ€ง่‚ฅๅŽš๏ผŒใ‚นใƒ‘ใ‚คใ‚ฏๅฝขๆˆ๏ผŒ็‚นๅˆปๅƒ๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็ณธ็ƒไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ณธ็ƒไฝ“ๅŸบๅบ•่†œใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒ่ฃœไฝ“ๆดปๆ€งๅŒ–ใชใฉใฎ็พ่ฑกใฏ็‚Ž็—‡ใฎไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰๏ผŒWHOๅˆ†้กž1ใงใฏ่†œๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranous glomerulonephritis)ใจใ—ใฆใ„ใ‚‹2ใ€‚ๆˆไบบใงใฏ๏ผŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎ20๏ฝž30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใŒ๏ผŒๅฐๅ…ใงใฏ็™บ็—‡้ ปๅบฆใฏๅฐ‘ใชใ„ใ€‚่†œๆ€ง่…Ž็—‡ใฏ๏ผŒ็‰น็™บๆ€งใจ่† ๅŽŸ็—…๏ผŒๆ„ŸๆŸ“็—‡๏ผŒ่–ฌๅ‰ค๏ผŒๆ‚ชๆ€ง่…ซ็˜ใชใฉใซใ‚ˆใ‚‹็ถš็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200114" ; + dcterms:source ; a owl:Class ; - rdfs:label "Membranous nephropathy"@en, "่†œๆ€ง่…Ž็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005376 ; + rdfs:label "Membranous nephropathy"@en, "ใพใใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่†œๆ€ง่…Ž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005376 ; skos:prefLabel "่†œๆ€ง่…Ž็—‡"@ja . -:2200115 - :hasNotificationNumber "25" ; - terms:description "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒ้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉ็š„่ฆๅ› ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซ๏ผŒๅพŒๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏๅŽŸ็™บๆ€ง็ณธ็ƒไฝ“็–พๆ‚ฃใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŸบ็คŽ็–พๆ‚ฃใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ—ใฆใ€€1.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚„ใ€2.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ใณใพใ‚“ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎไป–่กจ๏ผ‘ใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏใ€3.ใ€€ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ€4.ใ€€ๅทฃ็Šถๆ€งๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใ€5.ใ€€่†œๆ€ง่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใŒ๏ผŒใใฎไป–ใซ่กจ2ใซ็คบใ™็–พๆ‚ฃใŒๅŽŸๅ› ใจใ—ใฆๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅฐๅ…ใงใฏ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚ŽใพใŸ๏ผŒๆ„ŸๆŸ“็—‡ใซไผดใ†ๆ€ฅๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ๆˆไบบใงใฏ็ณ–ๅฐฟ็—…ๆ€ง่…Ž็—‡ใ‚„ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚่กจ1ใ€€ๅ…ˆๅคฉๆ€งใƒปไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅˆ†้กž่กจ2ใ€€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸ็–พๆ‚ฃ"@ja ; - terms:identifier "2200115" ; - terms:source ; - a owl:Class ; - rdfs:label "1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja, "Other nephrotic syndromes"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "1ใ‹ใ‚‰5ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja . - -:2200116 - :hasNotificationNumber "25" ; - terms:identifier "2200116" ; - terms:source ; - a owl:Class ; - rdfs:label "Denys-Drash syndrome"@en, "Denys-Drash็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008682 ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฏ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ๅฃใฎ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒ้ซ˜ๅบฆ่›‹็™ฝๅฐฟ๏ผŒไฝŽ่›‹็™ฝ่ก€็—‡ใจๅ…จ่บซๆ€งใฎๆตฎ่…ซใ‚’็”Ÿใ˜ใ‚‹็—…ๆ…‹ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒ้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉ็š„่ฆๅ› ใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใ•ใ‚‰ใซ๏ผŒๅพŒๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใฏๅŽŸ็™บๆ€ง็ณธ็ƒไฝ“็–พๆ‚ฃใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใจ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŸบ็คŽ็–พๆ‚ฃใซ็ถš็™บใ™ใ‚‹ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉ็š„่ฆๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ—ใฆใ€€1.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅๅ†…ใซ็™บ็—‡ใ™ใ‚‹ใƒ•ใ‚ฃใƒณใƒฉใƒณใƒ‰ๅž‹ๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚„ใ€2.ใ€€็”ŸๅพŒ3ใ‹ๆœˆไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ใณใพใ‚“ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎไป–่กจ๏ผ‘ใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒๅ…ˆๅคฉๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏใ€3.ใ€€ๅพฎๅฐๅค‰ๅŒ–ๅž‹ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ€4.ใ€€ๅทฃ็Šถๆ€งๅˆ†็ฏ€ๆ€ง็ณธ็ƒไฝ“็กฌๅŒ–็—‡ใ€5.ใ€€่†œๆ€ง่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใŒ๏ผŒใใฎไป–ใซ่กจ2ใซ็คบใ™็–พๆ‚ฃใŒๅŽŸๅ› ใจใ—ใฆๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไบŒๆฌกๆ€งใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅฐๅ…ใงใฏ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚ŽใพใŸ๏ผŒๆ„ŸๆŸ“็—‡ใซไผดใ†ๆ€ฅๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„ใ€‚ๆˆไบบใงใฏ็ณ–ๅฐฟ็—…ๆ€ง่…Ž็—‡ใ‚„ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใชใฉใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚่กจ1ใ€€ๅ…ˆๅคฉๆ€งใƒปไนณๅ…ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅˆ†้กž่กจ2ใ€€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใฎๅŽŸ็–พๆ‚ฃ"@ja ; + dcterms:identifier "NANDO:2200115" ; + dcterms:source ; + a owl:Class ; + rdfs:label "1ใ‹ใ‚‰6ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใญใตใ‚ใƒผใœใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja, "Other nephrotic syndromes"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200116" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Denys-Drash syndrome"@en, "Denys-Drash็—‡ๅ€™็พค"@ja, "ใงใซใ™ใฉใ‚‰ใฃใ—ใ‚…ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "DDS"@en ; + skos:closeMatch obo:MONDO_0008682 ; skos:prefLabel "Denys-Drash็—‡ๅ€™็พค"@ja . -:2200117 - :hasNotificationNumber "25" ; - terms:identifier "2200117" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200117" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pierson syndrome"@en, "Pierson็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012184 ; + rdfs:label "Pierson syndrome"@en, "Pierson็—‡ๅ€™็พค"@ja, "ใดใ‚ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012184 ; skos:prefLabel "Pierson็—‡ๅ€™็พค"@ja . -:2200118 - :hasNotificationNumber "25" ; - terms:identifier "2200118" ; - terms:source ; - a owl:Class ; - rdfs:label "ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf . - -:2200119 - :hasNotificationNumber "25" ; - terms:identifier "2200119" ; - terms:source ; - a owl:Class ; - rdfs:label "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja, "Junctional epidermolysis bullosa, Herlitz-type"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009182 ; - skos:prefLabel "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . - -:2200120 - :hasNotificationNumber "25" ; - terms:identifier "2200120" ; - terms:source ; - a owl:Class ; - rdfs:label "Galloway-Mowat syndrome"@en, "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009627 ; - skos:prefLabel "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja . - -:2200121 - :hasNotificationNumber "29" ; - terms:description "IgA่…Ž็—‡ใฏ๏ผŒๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใก๏ผŒไธปใซๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgAใŒๅ…็–ซ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใ€่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซๆฒˆ็€ใ—๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใƒปๆ‹กๅคงใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200121" ; - terms:source ; - a owl:Class ; - rdfs:label "IgA nephropathy"@en, "IgA่…Ž็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005342 ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200118" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Central nervous system malformation syndrome"@en, "ใกใ‚…ใ†ใ™ใ†ใ—ใ‚“ใ‘ใ„ใใ‘ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020022 ; + skos:prefLabel "ไธญๆžข็ฅž็ตŒๅฅ‡ๅฝข็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200119" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Herlitz junctional epidermolysis bullosa"@en, "ใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Herlitz JEB"@en, "Herlitzๅž‹่กจ็šฎๆฐดๆณก็—‡"@ja, "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009182 ; + skos:prefLabel "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:2200120" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galloway-Mowat syndrome"@en, "ใŽใ‚ƒใ‚ใ†ใ‡ใ„ใƒปใ‚‚ใ‚ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Galloway-Mowat็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009627 ; + skos:prefLabel "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "32" ; + dcterms:description "IgA่…Ž็—‡ใฏ๏ผŒๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใ†ใก๏ผŒไธปใซๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgAใŒๅ…็–ซ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใ€่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซๆฒˆ็€ใ—๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใƒปๆ‹กๅคงใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200121" ; + dcterms:source ; + a owl:Class ; + rdfs:label "IgA nephropathy"@en, "IgA่…Ž็—‡"@ja, "ใ‚ใ„ใ˜ใƒผใˆใƒผใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005342 ; skos:prefLabel "IgA่…Ž็—‡"@ja . -:2200122 - :hasNotificationNumber "41" ; - terms:description "ใณใพใ‚“ๆ€งๅ…จ็ฏ€ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใ‚’ๅ‘ˆใ™ใ‚‹็—…ๅค‰ใงใ‚ใ‚‹ใ€‚MesPGNใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏๅคšๅฝฉใงใ‚ใ‚Š๏ผŒๅ…จ่บซๆ€ง็–พๆ‚ฃใซไผดใ†ใ‚‚ใฎใจไผดใ‚ใชใ„ใ‚‚ใฎ(ๅŽŸ็™บๆ€ง)ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰(1)ใ€‚MesPGNใฎใ†ใก๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ๆณ•ใซใฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgA๏ผŒ่ฃœไฝ“๏ผฃ3ใฎ้กž็ฒ’็Šถๆฒˆ็€ใŒไป–ใฎๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใ‚ˆใ‚Šใ‚‚ๅ„ชไฝใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒIgA่…Ž็—‡ใงใ‚ใ‚Š๏ผŒๅŽŸ็™บๆ€งใฎMesPGNใงใฏๆœ€ใ‚‚ๅคšใ„ใ€‚IgA่…Ž็—‡ไปฅๅค–ใฎใ‚‚ใฎใฏnon-IgA่…Ž็—‡ใจๅ‘ผใฐใ‚Œ๏ผŒIgM่…Ž็—‡ใ‚„C1q่…Ž็—‡๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ใŒ้™ฐๆ€งใฎใ‚‚ใฎใชใฉใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚่กจใ€€ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ(1)"@ja ; - terms:identifier "2200122" ; - terms:source ; + + nando:hasNotificationNumber "43" ; + dcterms:description "ใณใพใ‚“ๆ€งๅ…จ็ฏ€ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎๅข—ๆฎ–ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅŸบ่ณชใฎๅข—็”Ÿใ‚’ๅ‘ˆใ™ใ‚‹็—…ๅค‰ใงใ‚ใ‚‹ใ€‚MesPGNใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏๅคšๅฝฉใงใ‚ใ‚Š๏ผŒๅ…จ่บซๆ€ง็–พๆ‚ฃใซไผดใ†ใ‚‚ใฎใจไผดใ‚ใชใ„ใ‚‚ใฎ(ๅŽŸ็™บๆ€ง)ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆ่กจ๏ผ‰(1)ใ€‚MesPGNใฎใ†ใก๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ๆณ•ใซใฆใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgA๏ผŒ่ฃœไฝ“๏ผฃ3ใฎ้กž็ฒ’็Šถๆฒˆ็€ใŒไป–ใฎๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใ‚ˆใ‚Šใ‚‚ๅ„ชไฝใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒIgA่…Ž็—‡ใงใ‚ใ‚Š๏ผŒๅŽŸ็™บๆ€งใฎMesPGNใงใฏๆœ€ใ‚‚ๅคšใ„ใ€‚IgA่…Ž็—‡ไปฅๅค–ใฎใ‚‚ใฎใฏnon-IgA่…Ž็—‡ใจๅ‘ผใฐใ‚Œ๏ผŒIgM่…Ž็—‡ใ‚„C1q่…Ž็—‡๏ผŒ่›ๅ…‰ๆŠ—ไฝ“ใŒ้™ฐๆ€งใฎใ‚‚ใฎใชใฉใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚่กจใ€€ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ(1)"@ja ; + dcterms:identifier "NANDO:2200122" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mesangial proliferative glomerulonephritis"@en, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Mesangial proliferative glomerulonephritis"@en, "ใ‚ใ•ใ‚“ใŽใ†ใ‚€ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "MesPGN"@en ; - skos:closeMatch mondo:MONDO_0003139 ; + skos:closeMatch obo:MONDO_0003139 ; skos:prefLabel "ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:2200123 - :hasNotificationNumber "38" ; - terms:description "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranoproliferative glomerulonephritis: MPGN)ใฏ๏ผŒ็—…็†็ต„็น”ๆ‰€่ฆ‹ไธŠ๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽšใซใ‚ˆใ‚Š่ก€็ฎก่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใฎไธ€ๆฌกๆ€งMPGNใจ๏ผŒๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚ŠMPGNใซ้กžไผผใ—ใŸ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบŒๆฌกๆ€งMPGNใŒใ‚ใ‚‹ใ€‚ใ€€็—…็†ๅญฆ็š„ใซ๏ผŒใณใพใ‚“ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ใฎไบŒ้‡ๅŒ–ใŠใ‚ˆใณ๏ผŒๅ†…็šฎ็ดฐ่ƒžไธ‹ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒๅ†…็šฎไธ‹่…”ใธใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎ้–“ๅ…ฅใชใฉใฎ็‰นๅพดใ‚’ๆœ‰ใ—๏ผŒ่‡จๅบŠ็š„ใซๆŒ็ถšๆ€งใฎไฝŽ่ฃœไฝ“่ก€็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚้›ป้ก•็š„ใซ๏ผŒ้ซ˜้›ปๅญๅฏ†ๅบฆๆฒˆ็€็‰ฉใฎๅญ˜ๅœจ้ƒจไฝใ‚ˆใ‚Š๏ผŒโ… ๅž‹(ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ)๏ผŒIIๅž‹(ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ)๏ผŒIIIๅž‹ (ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ+ไธŠ็šฎไธ‹ๆฒˆ็€็‰ฉ+ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒIIๅž‹MPGNใฏ๏ผŒDDD๏ผˆdensedepositdisease๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œ่ฃœไฝ“ๅˆถๅพกๅ› ๅญ๏ผŒ็‰นใซfactor HใฎๆฉŸ่ƒฝ็•ฐๅธธใŒ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆœ€่ฟ‘ๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒ่‡จๅบŠๅƒใ‚‚็•ฐใชใ‚‹็‚นใŒๅคšใ„ใ€‚WHOๅˆ†้กž(1995ๅนด)ใงใฏโ… ๅž‹๏ผŒIIIๅž‹ใจใฏ๏ผŒๅˆฅๅ€‹ใฎ็–พๆ‚ฃใจใจใ‚‰ใˆใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผŒIIๅž‹MPGNใฏไปฃ่ฌๆ€ง่…Ž็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200123" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(membranoproliferative glomerulonephritis: MPGN)ใฏ๏ผŒ็—…็†็ต„็น”ๆ‰€่ฆ‹ไธŠ๏ผŒใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ไฟ‚่น„ๅฃใฎ่‚ฅๅŽšใซใ‚ˆใ‚Š่ก€็ฎก่…”ใฎ็‹ญๅฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใฎไธ€ๆฌกๆ€งMPGNใจ๏ผŒๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚ŠMPGNใซ้กžไผผใ—ใŸ็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบŒๆฌกๆ€งMPGNใŒใ‚ใ‚‹ใ€‚ใ€€็—…็†ๅญฆ็š„ใซ๏ผŒใณใพใ‚“ๆ€งใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžๅข—ๆฎ–ใจๅŸบ่ณชใฎๅข—ๅŠ ๏ผŒ็ณธ็ƒไฝ“ๆฏ›็ดฐ่ก€็ฎกไฟ‚่น„ใฎไบŒ้‡ๅŒ–ใŠใ‚ˆใณ๏ผŒๅ†…็šฎ็ดฐ่ƒžไธ‹ใจใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ใฎๆฒˆ็€๏ผŒๅ†…็šฎไธ‹่…”ใธใฎใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ็ดฐ่ƒžใฎ้–“ๅ…ฅใชใฉใฎ็‰นๅพดใ‚’ๆœ‰ใ—๏ผŒ่‡จๅบŠ็š„ใซๆŒ็ถšๆ€งใฎไฝŽ่ฃœไฝ“่ก€็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚้›ป้ก•็š„ใซ๏ผŒ้ซ˜้›ปๅญๅฏ†ๅบฆๆฒˆ็€็‰ฉใฎๅญ˜ๅœจ้ƒจไฝใ‚ˆใ‚Š๏ผŒโ… ๅž‹(ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ)๏ผŒIIๅž‹(ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ)๏ผŒIIIๅž‹ (ๅ†…็šฎไธ‹ๆฒˆ็€็‰ฉ+ไธŠ็šฎไธ‹ๆฒˆ็€็‰ฉ+ๅŸบๅบ•่†œๅ†…ๆฒˆ็€็‰ฉ๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒIIๅž‹MPGNใฏ๏ผŒDDD๏ผˆdensedepositdisease๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œ่ฃœไฝ“ๅˆถๅพกๅ› ๅญ๏ผŒ็‰นใซfactor HใฎๆฉŸ่ƒฝ็•ฐๅธธใŒ็™บ็—‡ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๆœ€่ฟ‘ๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒ่‡จๅบŠๅƒใ‚‚็•ฐใชใ‚‹็‚นใŒๅคšใ„ใ€‚WHOๅˆ†้กž(1995ๅนด)ใงใฏโ… ๅž‹๏ผŒIIIๅž‹ใจใฏ๏ผŒๅˆฅๅ€‹ใฎ็–พๆ‚ฃใจใจใ‚‰ใˆใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผŒIIๅž‹MPGNใฏไปฃ่ฌๆ€ง่…Ž็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200123" ; + dcterms:source ; a owl:Class ; - rdfs:label "Membranoproliferative glomerulonephritis"@en, "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Membranoproliferative glomerulonephritis"@en, "ใพใใ›ใ„ใžใ†ใ—ใ‚‡ใใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "MPGN"@en ; - skos:closeMatch mondo:MONDO_0002461, mondo:MONDO_0018904 ; + skos:closeMatch obo:MONDO_0002461, obo:MONDO_0018904 ; skos:prefLabel "่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . -:2200124 - :hasNotificationNumber "34" ; - terms:description "่ก€็ฎก็‚Žใฎๅ›ฝ้š›ๅˆ†้กž(1)ใฎHenoch-Schรถnlein็ดซๆ–‘็—…ใฎๅฎš็พฉใฏ๏ผŒ่งฆ็Ÿฅๅฏ่ƒฝใช็ดซๆ–‘๏ผˆpalpable purpura๏ผ‰ใ‚’ๅฟ…้ ˆ้ …็›ฎใจใ—๏ผŒ็šฎ่†šใ‚‚ใ—ใใฏ่…Ž็ต„็น”ใธใฎIgAๆฒˆ็€่…น็—›๏ผŒ้–ข็ฏ€็‚Žใฎใ„ใšใ‚Œใ‹ใŒๅญ˜ๅœจใ™ใ‚‹็—…ๆ…‹ใจใ—ใฆใ„ใ‚‹ใ€‚ใ€€1837ๅนดใซSchรถnleinใŒ็ดซๆ–‘ใจ้–ข็ฏ€็—›ใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒ1874ๅนดใซHenochใŒๆถˆๅŒ–ๅ™จ็—‡็Šถใจ่…Ž้šœๅฎณใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒHenoch-Schรถnlein็ดซๆ–‘็—…(HSP)ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ๆ—ฅๆœฌใงๆฑŽ็”จใ•ใ‚Œใ‚‹ใ‚ขใƒฌใƒซใ‚ฎใƒผ็ดซๆ–‘็—…ใฏ๏ผŒOslerใŒใ“ใฎ็–พๆ‚ฃใŒใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใจไปฎ่ชฌใ‚’็ซ‹ใฆ๏ผŒๆๅ”ฑใ—ใŸใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ฏใƒˆใ‚คใƒ‰็ดซๆ–‘็—…๏ผˆanaphylactoid purpura๏ผ‰ใจใ„ใ†็”จ่ชžใฎ่จณใงใ‚ใ‚‹ใŒ๏ผŒ็–พๆ‚ฃใฎๆœฌไฝ“ใฏใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใงใชใๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒใ“ใฎ็”จ่ชžใฏ็”จใ„ใ‚‰ใ‚Œใชใใชใฃใฆใใฆใ„ใ‚‹ใ€‚็พๅœจใงใฏHenoch-Schรถnlein็ดซๆ–‘็—… (HSP)ใจใฎๅ‘ผใณๅใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ€‚ใ€€HSPใฏ๏ผŒๅฐๅ…ใฎ่ก€็ฎก็‚Žใจใ—ใฆใฏๅทๅดŽ็—…ใซๆฌกใ„ใงๅคšใ๏ผŒHSPใซๅˆไฝตใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Ž๏ผŒHenoch-Schรถnlein ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž (Henoch-Schรถnlein purpura nephritis :HSPN) ใฏๅฐๅ…ใฎไบŒๆฌกๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใชใ‹ใงๆœ€ใ‚‚ๅคšใ„ใ€‚ใ€€HSPNใฏ๏ผŒIgA่…Ž็—‡ใจๅŒๆง˜ใซ่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgAๅ„ชไฝใฎๆฒˆ็€ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚IgA่…Ž็—‡ใจ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใฎ้–“ใฎๅ”ฏไธ€ใฎ้•ใ„ใฏ๏ผŒ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใงใฏ็šฎ่†šใซ็‚น็Šถๅ‡บ่ก€ๆ–‘ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใงใ‚ใ‚Š๏ผŒ็ณธ็ƒไฝ“็—…ๅค‰ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ไธก็–พๆ‚ฃใจใ‚‚ใซ็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒHSPใฎ็šฎ่†š็—…ๅค‰ใฏๅพŒๆฏ›็ดฐ่ก€็ฎก็ดฐ้™่„ˆใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚Š๏ผŒ็—…ๅค‰้ƒจไฝใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200124" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:description "่ก€็ฎก็‚Žใฎๅ›ฝ้š›ๅˆ†้กž(1)ใฎHenoch-Schรถnlein็ดซๆ–‘็—…ใฎๅฎš็พฉใฏ๏ผŒ่งฆ็Ÿฅๅฏ่ƒฝใช็ดซๆ–‘๏ผˆpalpable purpura๏ผ‰ใ‚’ๅฟ…้ ˆ้ …็›ฎใจใ—๏ผŒ็šฎ่†šใ‚‚ใ—ใใฏ่…Ž็ต„็น”ใธใฎIgAๆฒˆ็€่…น็—›๏ผŒ้–ข็ฏ€็‚Žใฎใ„ใšใ‚Œใ‹ใŒๅญ˜ๅœจใ™ใ‚‹็—…ๆ…‹ใจใ—ใฆใ„ใ‚‹ใ€‚ใ€€1837ๅนดใซSchรถnleinใŒ็ดซๆ–‘ใจ้–ข็ฏ€็—›ใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒ1874ๅนดใซHenochใŒๆถˆๅŒ–ๅ™จ็—‡็Šถใจ่…Ž้šœๅฎณใจใฎ้–ข้€ฃใ‚’ๅ ฑๅ‘Šใ—๏ผŒHenoch-Schรถnlein็ดซๆ–‘็—…(HSP)ใฎๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ—ใŸใ€‚ๆ—ฅๆœฌใงๆฑŽ็”จใ•ใ‚Œใ‚‹ใ‚ขใƒฌใƒซใ‚ฎใƒผ็ดซๆ–‘็—…ใฏ๏ผŒOslerใŒใ“ใฎ็–พๆ‚ฃใŒใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใจไปฎ่ชฌใ‚’็ซ‹ใฆ๏ผŒๆๅ”ฑใ—ใŸใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ฏใƒˆใ‚คใƒ‰็ดซๆ–‘็—…๏ผˆanaphylactoid purpura๏ผ‰ใจใ„ใ†็”จ่ชžใฎ่จณใงใ‚ใ‚‹ใŒ๏ผŒ็–พๆ‚ฃใฎๆœฌไฝ“ใฏใ‚ขใƒŠใƒ•ใ‚ฃใƒฉใ‚ญใ‚ทใƒผๅๅฟœใงใชใๅ…็–ซ่ค‡ๅˆไฝ“็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใ‚Š๏ผŒใ“ใฎ็”จ่ชžใฏ็”จใ„ใ‚‰ใ‚Œใชใใชใฃใฆใใฆใ„ใ‚‹ใ€‚็พๅœจใงใฏHenoch-Schรถnlein็ดซๆ–‘็—… (HSP)ใจใฎๅ‘ผใณๅใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ€‚ใ€€HSPใฏ๏ผŒๅฐๅ…ใฎ่ก€็ฎก็‚Žใจใ—ใฆใฏๅทๅดŽ็—…ใซๆฌกใ„ใงๅคšใ๏ผŒHSPใซๅˆไฝตใ™ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Ž๏ผŒHenoch-Schรถnlein ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž (Henoch-Schรถnlein purpura nephritis :HSPN) ใฏๅฐๅ…ใฎไบŒๆฌกๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฎใชใ‹ใงๆœ€ใ‚‚ๅคšใ„ใ€‚ใ€€HSPNใฏ๏ผŒIgA่…Ž็—‡ใจๅŒๆง˜ใซ่…Ž็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใซIgAๅ„ชไฝใฎๆฒˆ็€ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚IgA่…Ž็—‡ใจ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใฎ้–“ใฎๅ”ฏไธ€ใฎ้•ใ„ใฏ๏ผŒ็ดซๆ–‘็—…ๆ€ง่…Ž็‚Žใงใฏ็šฎ่†šใซ็‚น็Šถๅ‡บ่ก€ๆ–‘ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใงใ‚ใ‚Š๏ผŒ็ณธ็ƒไฝ“็—…ๅค‰ใ‹ใ‚‰ไธก็–พๆ‚ฃใ‚’้‘‘ๅˆฅใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ไธก็–พๆ‚ฃใจใ‚‚ใซ็ณธ็ƒไฝ“ใƒกใ‚ตใƒณใ‚ฎใ‚ฆใƒ ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒHSPใฎ็šฎ่†š็—…ๅค‰ใฏๅพŒๆฏ›็ดฐ่ก€็ฎก็ดฐ้™่„ˆใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹็™ฝ่ก€็ƒ็ ด็ •ๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚Š๏ผŒ็—…ๅค‰้ƒจไฝใซIgAใฎๆฒˆ็€ใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200124" ; + dcterms:source ; a owl:Class ; - rdfs:label "Henoch-Schonlein purpura nephritis"@en, "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "HSPN"@en ; + rdfs:label "Henoch-Schonlein purpura nephritis"@en, "ใ—ใฏใ‚“ใณใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HSPN"@en, "Henoch-Schรถnlein purpura nephritis"@en ; skos:prefLabel "็ดซๆ–‘็—…ๆ€ง่…Ž็‚Ž"@ja . -:2200125 - :hasNotificationNumber "33" ; - terms:description "็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(glomerular basement membrane:GBM๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใงใ‚ใ‚‹ๆŠ—GBMๆŠ—ไฝ“ใŒๅŽŸๅ› ใจใชใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚„ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis: RPGN)ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ1919ๅนดใซGoodpastureใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ“ใจใซใกใชใฟ๏ผŒGoodpastureโ€™s syndromeใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๆŠ—GBMๆŠ—ไฝ“ใซใ‚ˆใ‚Š่‚บๅ‡บ่ก€ใจRPGNใฎไธก่€…ใŒ็”Ÿใ˜ใŸๅ ดๅˆใซGoodpasture็—‡ๅ€™็พคใจๅ‘ผใถใ“ใจใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚’ไผดใ‚ใšใซRPGNใฎใฟใŒ็”Ÿใ˜ใŸใจใใฏ๏ผŒๆŠ—GBMๆŠ—ไฝ“ๅž‹่…Ž็‚Žใจๅ‘ผใถใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200125" ; - terms:source ; - a owl:Class ; - rdfs:label "Goodpasture syndrome"@en, "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009303 ; + + nando:hasNotificationNumber "36" ; + dcterms:description "็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(glomerular basement membrane:GBM๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใงใ‚ใ‚‹ๆŠ—GBMๆŠ—ไฝ“ใŒๅŽŸๅ› ใจใชใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚„ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis: RPGN)ใ‚’ๆฅใ™ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ1919ๅนดใซGoodpastureใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ“ใจใซใกใชใฟ๏ผŒGoodpastureโ€™s syndromeใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๆˆ‘ใŒๅ›ฝใงใฏๆŠ—GBMๆŠ—ไฝ“ใซใ‚ˆใ‚Š่‚บๅ‡บ่ก€ใจRPGNใฎไธก่€…ใŒ็”Ÿใ˜ใŸๅ ดๅˆใซGoodpasture็—‡ๅ€™็พคใจๅ‘ผใถใ“ใจใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Š๏ผŒ่‚บๅ‡บ่ก€ใ‚’ไผดใ‚ใšใซRPGNใฎใฟใŒ็”Ÿใ˜ใŸใจใใฏ๏ผŒๆŠ—GBMๆŠ—ไฝ“ๅž‹่…Ž็‚Žใจๅ‘ผใถใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200125" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Goodpasture syndrome"@en, "ใ“ใ†ใ—ใใ‚…ใ†ใŸใ„ใใฆใ„ใพใใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Anti-GBM Nephritis"@en, "Anti-glomerular basement membrane disease"@en, "Goodpasture็—‡ๅ€™็พค"@ja, "ใ‚ฐใƒƒใƒ‰ใƒ‘ใ‚นใƒใƒฃใƒผ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009303 ; skos:prefLabel "ๆŠ—็ณธ็ƒไฝ“ๅŸบๅบ•่†œ่…Ž็‚Ž"@ja . -:2200126 - :hasNotificationNumber "39" ; - terms:description "Alport็—‡ๅ€™็พค(AS)ใฏ1927ๅนดใซAlportใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้€ฒ่กŒๆ€งใฎ่…Ž็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใง๏ผŒ่ดๅŠ›็•ฐๅธธใƒป็œผ็ƒ็•ฐๅธธใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹(1)ใ€‚ใใฎๅŽŸๅ› ้บไผๅญใฏ๏ผŒCOL4A3๏ผŒCOL4A4๏ผŒCOL4A5้บไผๅญใงใ‚ใ‚‹ใ€‚1990ๅนดใซๅˆใ‚ใฆCOL4A5้บไผๅญๅค‰็•ฐใŒ๏ผธๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๅž‹(X-linked Alport syndrome: XLAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œ(2)๏ผŒๆฌกใ„ใง1994ๅนดใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญๅค‰็•ฐใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅž‹(autosomal recessive Alport syndrome: ARAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(3)ใ€‚ASๅ…จไฝ“ใฎไธญใง๏ผŒXLASใŒ็ด„80๏ผ…๏ผŒARASใŒ็ด„15๏ผ…ใ‚’ๅ ใ‚ใ‚‹๏ผŽๆฎ‹ใ‚Šใฎ5๏ผ…ใฎไธญใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญใฎ็•ฐๅธธใ‹ใ‚‰ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅž‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹(4)ใ€‚ASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(GBM)ใฎ่ฒ่–„ๅŒ–ใƒปๆ–ญ่ฃ‚ใ‚’ไผดใฃใฆ้€ฒ่กŒใ—๏ผŒๆ•ฐๅนดใ‹ใ‚‰ๅๆ•ฐๅนดใ‚’็ตŒใฆๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹(5)ใ€‚ๅˆๆœŸ็—‡็Šถใฏ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใงใ‚ใ‚‹ใ“ใจใŒๅคšใ๏ผŒ็‰นใซXLASใฎ็”ทๆ€งใซใŠใ„ใฆๆˆไบบใซใชใฃใฆใ‹ใ‚‰ใปใผไพ‹ๅค–ใชใ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚XLASใฎใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚‹ๅฅณๆ€งใฎASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใฎใฟใฎ็—‡ไพ‹ใ‹ใ‚‰ๆ—ฉๆœŸใซๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹็—‡ไพ‹ใพใงๅคšๆง˜ใงใ‚ใ‚Š๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใฎไธๆดปๅŒ–็พ่ฑกใซใ‚ˆใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹(5)ใ€‚"@ja ; - terms:identifier "2200126" ; - terms:source ; - a owl:Class ; - rdfs:label "Alport syndrome"@en, "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "chronic glomerulonephritis"@en ; - skos:closeMatch mondo:MONDO_0018965 ; + + nando:hasNotificationNumber "42" ; + dcterms:description "Alport็—‡ๅ€™็พค(AS)ใฏ1927ๅนดใซAlportใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้€ฒ่กŒๆ€งใฎ่…Ž็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใง๏ผŒ่ดๅŠ›็•ฐๅธธใƒป็œผ็ƒ็•ฐๅธธใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹(1)ใ€‚ใใฎๅŽŸๅ› ้บไผๅญใฏ๏ผŒCOL4A3๏ผŒCOL4A4๏ผŒCOL4A5้บไผๅญใงใ‚ใ‚‹ใ€‚1990ๅนดใซๅˆใ‚ใฆCOL4A5้บไผๅญๅค‰็•ฐใŒ๏ผธๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๅž‹(X-linked Alport syndrome: XLAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œ(2)๏ผŒๆฌกใ„ใง1994ๅนดใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญๅค‰็•ฐใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅž‹(autosomal recessive Alport syndrome: ARAS)ๅฎถ็ณปใงๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(3)ใ€‚ASๅ…จไฝ“ใฎไธญใง๏ผŒXLASใŒ็ด„80๏ผ…๏ผŒARASใŒ็ด„15๏ผ…ใ‚’ๅ ใ‚ใ‚‹๏ผŽๆฎ‹ใ‚Šใฎ5๏ผ…ใฎไธญใซCOL4A3ใ‚ใ‚‹ใ„ใฏCOL4A4้บไผๅญใฎ็•ฐๅธธใ‹ใ‚‰ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅž‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹(4)ใ€‚ASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ็ณธ็ƒไฝ“ๅŸบๅบ•่†œ(GBM)ใฎ่ฒ่–„ๅŒ–ใƒปๆ–ญ่ฃ‚ใ‚’ไผดใฃใฆ้€ฒ่กŒใ—๏ผŒๆ•ฐๅนดใ‹ใ‚‰ๅๆ•ฐๅนดใ‚’็ตŒใฆๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹(5)ใ€‚ๅˆๆœŸ็—‡็Šถใฏ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใงใ‚ใ‚‹ใ“ใจใŒๅคšใ๏ผŒ็‰นใซXLASใฎ็”ทๆ€งใซใŠใ„ใฆๆˆไบบใซใชใฃใฆใ‹ใ‚‰ใปใผไพ‹ๅค–ใชใ่…Žไธๅ…จใซ่‡ณใ‚‹ใ€‚XLASใฎใ‚ญใƒฃใƒชใ‚ขใงใ‚ใ‚‹ๅฅณๆ€งใฎASใซใ‚ˆใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ็„ก็—‡ๅ€™ๆ€ง่ก€ๅฐฟใฎใฟใฎ็—‡ไพ‹ใ‹ใ‚‰ๆ—ฉๆœŸใซๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚‹็—‡ไพ‹ใพใงๅคšๆง˜ใงใ‚ใ‚Š๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใฎไธๆดปๅŒ–็พ่ฑกใซใ‚ˆใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹(5)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200126" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alport syndrome"@en, "ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ‚ใ‚‹ใฝใƒผใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "AS"@en, "Alport's syndrome"@en ; + skos:closeMatch obo:MONDO_0018965 ; skos:prefLabel "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆใ‚ขใƒซใƒใƒผใƒˆ ็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200127 - :hasNotificationNumber "30" ; - terms:description "Epstein็—‡ๅ€™็พคใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ่…Ž็‚Ž๏ผŒ่ปฝๅบฆใฎ้›ฃ่ด๏ผŒๅทจๅคง่ก€ๅฐๆฟใฎๅ‡บ็พใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธ‰ๅพดใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒAlport็—‡ๅ€™็พคใจใฎ้กžไผผ็‚นใ‹ใ‚‰๏ผŒ้บไผๆ€ง่…Ž็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ ๅŒๆง˜ใซไธ‰ๅพดๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹Fechtner็—‡ๅ€™็พคใงใฏ็ฉŽ็ฒ’็ƒๅ†…ใซDรถhleๆง˜ๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใซๅฏพใ—ใฆ๏ผŒ Epstein็—‡ๅ€™็พคใงใฏๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ„ใ†็‚นใงไธก็—‡ๅ€™็พคใฏ้‘‘ๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅฎถ็ณปๅˆ†ๆžใ‚ˆใ‚Š๏ผŒ่ฒฌไปป้บไผๅญใฏ22q11-q13ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œnon-muscle myosin heavy chain typeIIA(NMMHC-IIA)ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MYH9้บไผๅญใŒ่ฆ‹ใ„ใ ใ•ใ‚ŒใŸใ€‚ใ“ใฎ้บไผๅญใฏๅทจๅคง่ก€ๅฐๆฟใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅ…ฑ้€š็™บ็พ็—‡็Šถใจใ™ใ‚‹Epstein็—‡ๅ€™็พค๏ผŒFechtner็—‡ๅ€™็พคใจใจใ‚‚ใซ๏ผŒMay-Hegglin็•ฐๅธธ๏ผŒ Sebastian็—‡ๅ€™็พคใฎ่ฒฌไปป้บไผๅญใงใ‚‚ใ‚ใ‚‹ใ€‚MYH9็•ฐๅธธ็—‡ใฎใ†ใกMay-Hegglin็•ฐๅธธใจSebastian็—‡ๅ€™็พคใฏ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฎๅฝขๆ…‹ใฎ้•ใ„ใซใ‚ˆใฃใฆๅŒบๅˆฅใ•ใ‚Œ๏ผŒใ“ใ‚Œใ‚‰2ใคใฎ็–พๆ‚ฃใงใฏ่…Ž็—‡็Šถใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200127" ; - terms:source ; - a owl:Class ; - rdfs:label "Epstein syndrome"@en, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "AS"@en, "Epstein็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0004978, mondo:MONDO_0007113, mondo:MONDO_0007954, mondo:MONDO_0015912, mondo:MONDO_0019344 ; + + nando:hasNotificationNumber "33" ; + dcterms:description "Epstein็—‡ๅ€™็พคใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ่…Ž็‚Ž๏ผŒ่ปฝๅบฆใฎ้›ฃ่ด๏ผŒๅทจๅคง่ก€ๅฐๆฟใฎๅ‡บ็พใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธ‰ๅพดใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Š๏ผŒAlport็—‡ๅ€™็พคใจใฎ้กžไผผ็‚นใ‹ใ‚‰๏ผŒ้บไผๆ€ง่…Ž็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹(1)ใ€‚ ๅŒๆง˜ใซไธ‰ๅพดๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹Fechtner็—‡ๅ€™็พคใงใฏ็ฉŽ็ฒ’็ƒๅ†…ใซDรถhleๆง˜ๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใซๅฏพใ—ใฆ๏ผŒ Epstein็—‡ๅ€™็พคใงใฏๅฐๅ…ฅไฝ“ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ„ใ†็‚นใงไธก็—‡ๅ€™็พคใฏ้‘‘ๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅฎถ็ณปๅˆ†ๆžใ‚ˆใ‚Š๏ผŒ่ฒฌไปป้บไผๅญใฏ22q11-q13ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œnon-muscle myosin heavy chain typeIIA(NMMHC-IIA)ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MYH9้บไผๅญใŒ่ฆ‹ใ„ใ ใ•ใ‚ŒใŸใ€‚ใ“ใฎ้บไผๅญใฏๅทจๅคง่ก€ๅฐๆฟใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅ…ฑ้€š็™บ็พ็—‡็Šถใจใ™ใ‚‹Epstein็—‡ๅ€™็พค๏ผŒFechtner็—‡ๅ€™็พคใจใจใ‚‚ใซ๏ผŒMay-Hegglin็•ฐๅธธ๏ผŒ Sebastian็—‡ๅ€™็พคใฎ่ฒฌไปป้บไผๅญใงใ‚‚ใ‚ใ‚‹ใ€‚MYH9็•ฐๅธธ็—‡ใฎใ†ใกMay-Hegglin็•ฐๅธธใจSebastian็—‡ๅ€™็พคใฏ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฎๅฝขๆ…‹ใฎ้•ใ„ใซใ‚ˆใฃใฆๅŒบๅˆฅใ•ใ‚Œ๏ผŒใ“ใ‚Œใ‚‰2ใคใฎ็–พๆ‚ฃใงใฏ่…Ž็—‡็Šถใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200127" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Epstein syndrome"@en, "ใˆใทใ™ใŸใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Epstein็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007954 ; skos:prefLabel "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค"@ja . -:2200128 - :hasNotificationNumber "42" ; - terms:description "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(systemic lupus erythematosus: SLE)ใฏ๏ผŒๆŠ—DNAๆŠ—ไฝ“ใ‚’ๅซใ‚€ๅ…็–ซ่ค‡ๅˆไฝ“(immune complex)ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅคš่‡“ๅ™จ็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็‚Ž็—‡ๆ€ง่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใชใ‹ใงใ‚‚๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž(lupus nephritis: LN)ใฏ๏ผŒSLEใซๅˆไฝตใ™ใ‚‹ๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‡“ๅ™จ็—…ๅค‰ใงใ‚ใ‚Š๏ผŒไบˆๅพŒใ‚’ๆฑบๅฎšใ™ใ‚‹ๅ› ๅญใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200128" ; - terms:source ; + + nando:hasNotificationNumber "45" ; + dcterms:description "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(systemic lupus erythematosus: SLE)ใฏ๏ผŒๆŠ—DNAๆŠ—ไฝ“ใ‚’ๅซใ‚€ๅ…็–ซ่ค‡ๅˆไฝ“(immune complex)ใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ๅคš่‡“ๅ™จ็—…ๅค‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€งใฎ็‚Ž็—‡ๆ€ง่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใชใ‹ใงใ‚‚๏ผŒใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž(lupus nephritis: LN)ใฏ๏ผŒSLEใซๅˆไฝตใ™ใ‚‹ๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‡“ๅ™จ็—…ๅค‰ใงใ‚ใ‚Š๏ผŒไบˆๅพŒใ‚’ๆฑบๅฎšใ™ใ‚‹ๅ› ๅญใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200128" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lupus Nephritis"@en, "ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Lupus nephritis"@en, "ใ‚‹ใƒผใทใ™ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "LN"@en ; - skos:closeMatch mondo:MONDO_0002486, mondo:MONDO_0005556 ; + skos:closeMatch obo:MONDO_0005556 ; skos:prefLabel "ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž"@ja . -:2200129 - :hasNotificationNumber "31" ; - terms:description "MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚"@ja ; - terms:identifier "2200129" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:description "MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200129" ; + dcterms:source ; a owl:Class ; - rdfs:label "rapidly progressive glomerulonephritis due to Microscopic Poly-angitis"@en, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "rapidly progressive glomerulonephritis due to MPA"@en ; + rdfs:label "Rapidly progressive glomerulonephritis due to microscopic poly-angitis"@en, "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Rapidly progressive glomerulonephritis due to MPA"@en ; skos:prefLabel "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆ้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200130 - :hasNotificationNumber "31" ; - terms:description "MPAใฏๅฐใƒป็ดฐๅ‹•่„ˆ๏ผŒๆฏ›็ดฐ่ก€็ฎกใ€็ดฐ้™่„ˆใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใง๏ผŒไธญๅ‹•่„ˆใฎ็‚Ž็—‡ใ‚’ไผดใฃใฆใ‚‚ใ‚ˆใ„ใ€‚ไพตใ•ใ‚Œใ‚‹่ก€็ฎกใฎๅคชใ•ใŒๅฐๅž‹่ก€็ฎกใงใ‚ใ‚‹ใ“ใจ๏ผŒๅคงๅŠใฎ็—‡ไพ‹ใŒANCA้™ฝๆ€งใ‚’็คบใ™ใ“ใจใ‹ใ‚‰๏ผŒ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž(polyarteritis nodosa:PN)ใ‹ใ‚‰ๅˆ†้›ขใƒป็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚"@ja ; - terms:identifier "2200130" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž(rapidly progressive glomerulonephritis๏ผšRPGN)ใจใฏ๏ผŒๆ—ฅๆœฌ่…Ž่‡“ๅญฆไผšใŒๆๅ”ฑใ—ใŸ่จบๆ–ญๅŸบๆบ– (1)ใงใฏ๏ผŒใ€Œๆ•ฐ้€ฑใ‹ใ‚‰ๆ•ฐใ‹ๆœˆใฎ็ตŒ้Žใงๆ€ฅ้€Ÿใซ่…Žไธๅ…จใŒ้€ฒ่กŒใ—๏ผŒ่ก€ๅฐฟ๏ผŒ่›‹็™ฝๅฐฟ๏ผŒๅ††ๆŸฑๅฐฟใชใฉใ‚’่ชใ‚ใ‚‹็ณธ็ƒไฝ“่…Ž็‚Žใ€ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚WHOใงใฏใ€Œๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆฝœๅœจๆ€งใซ็™บ็—‡ใ™ใ‚‹๏ผŒ่‚‰็œผ็š„่ก€ๅฐฟ๏ผŒ่›‹็™ฝๅฐฟ๏ผŒ่ฒง่ก€๏ผŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹่…Žไธๅ…จ็—‡ๅ€™็พคใ€ใจๅฎš็พฉใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎๅŸบๆบ–ใ‚’ๆบ€ใŸใ›ใฐ๏ผŒๅŽŸๅ› ใฎ็ณธ็ƒไฝ“่…Ž็‚Žใฎ็จฎ้กžใ‚’ๅ•ใ‚ใšRPGNใจใ•ใ‚Œใ‚‹ใ€‚ใ™ใชใ‚ใก๏ผŒRPGNใจใฏ็Šถๆ…‹ใ‚’่กจใ™่จบๆ–ญๅใงใ‚ใ‚Š๏ผŒๅ›บๆœ‰ใฎ็–พๆ‚ฃๅใงใฏใชใ„ใ€‚ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใฏ๏ผŒ่ฟ‘ๅนดWegener่‚‰่Šฝ่…ซใ‚ˆใ‚Šใใฎๅ็งฐใŒๅค‰ๆ›ดใจใชใฃใŸใ‚‚ใฎใง๏ผŒ1939ๅนดใซใƒ‰ใ‚คใƒ„ใฎ็—…็†ๅญฆ่€…WegenerใŒๆๅ”ฑใ—ใŸ๏ผŒโ‘ ่€ณ๏ผŒ็œผ๏ผŒ้ผปๅ’ฝ้ ญใ‚’ๅซใ‚€ไธŠๆฐ—้“ใŠใ‚ˆใณ่‚บใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅฃŠๆญปๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Ž๏ผŒโ‘กๅ…จ่บซ่ซธ่‡“ๅ™จใฎๅฐใƒปไธญๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Ž๏ผŒโ‘ขๅฃŠๆญปๆ€งๅŠๆœˆไฝ“ๅฝขๆˆๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200130" ; + dcterms:source ; a owl:Class ; - rdfs:label "rapidly progressive glomerulonephritis due to Granulomatosis with polyangiitis"@en, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "rapidly progressive glomerulonephritis due to GPA"@en ; + rdfs:label "Rapidly progressive glomerulonephritis due to granulomatosis with polyangiitis"@en, "ใใ‚…ใ†ใใใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“๏ผˆใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Rapidly progressive glomerulonephritis due to GPA"@en ; skos:prefLabel "ๆ€ฅ้€Ÿ้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž๏ผˆๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200131 - :hasNotificationNumber "36" ; - terms:description "้žๅฎšๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค (atypical hemolytic uremic syndrome, aHUS)ใฏ๏ผŒๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSใจADAMTS13(adisintegrin-like and metalloproteinase with thrombospondin type l motifs, member 13)ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… (thrombotic thrombocytopenic purpura, TTP)ไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ(thrombotic microangiopathy, TMA)ใง๏ผŒๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใƒป่ก€ๅฐๆฟๆธ›ๅฐ‘ใƒปๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury, AKI)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200131" ; - terms:source ; - a owl:Class ; - rdfs:label "Atypical haemolytic uraemic syndrome"@en, "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "aHUS"@en ; - skos:closeMatch mondo:MONDO_0016244 ; + + nando:hasNotificationNumber "39" ; + dcterms:description "้žๅฎšๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค (atypical hemolytic uremic syndrome, aHUS)ใฏ๏ผŒๅฟ—่ณ€ๆฏ’็ด ใซใ‚ˆใ‚‹HUSใจADAMTS13(adisintegrin-like and metalloproteinase with thrombospondin type l motifs, member 13)ๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—… (thrombotic thrombocytopenic purpura, TTP)ไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ(thrombotic microangiopathy, TMA)ใง๏ผŒๅพฎๅฐ่ก€็ฎก็—‡ๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใƒป่ก€ๅฐๆฟๆธ›ๅฐ‘ใƒปๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury, AKI)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200131" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical hemolytic uremic syndrome"@en, "ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Atypical haemolytic uraemic syndrome"@en, "aHUS"@en ; + skos:closeMatch obo:MONDO_0016244 ; skos:prefLabel "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja . -:2200132 - :hasNotificationNumber "35" ; - terms:description "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค(nail-patella็—‡ๅ€™็พค๏ผŒMIM161200)ใฏ๏ผŒ็ˆชๅฝขๆˆไธๅ…จ๏ผŒ่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆ๏ผŒ่…ธ้ชจใฎ่ง’็Šถ็ช่ตท(Iliac horn)๏ผŒ่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’4ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—๏ผŒไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200132" ; - terms:source ; - a owl:Class ; - rdfs:label "Nail-patella syndrome"@en, "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "aHUS"@en, "็ˆช่†่“‹็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008061, mondo:MONDO_0016244 ; + + nando:hasNotificationNumber "38" ; + dcterms:description "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค(nail-patella็—‡ๅ€™็พค๏ผŒMIM161200)ใฏ๏ผŒ็ˆชๅฝขๆˆไธๅ…จ๏ผŒ่†่“‹้ชจใฎไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏ็„กๅฝขๆˆ๏ผŒ่…ธ้ชจใฎ่ง’็Šถ็ช่ตท(Iliac horn)๏ผŒ่‚˜้–ข็ฏ€ใฎ็•ฐๅฝขๆˆใ‚’4ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐ่…Ž็—‡ใ‚’็™บ็—‡ใ—๏ผŒไธ€้ƒจใฏๆœซๆœŸ่…Žไธๅ…จใซ้€ฒ่กŒใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200132" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nail-patella syndrome"@en, "ใญใ„ใ‚‹ใƒปใฑใฆใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Nail-Patella็—‡ๅ€™็พค"@ja, "็ˆช่†่“‹้ชจ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008061 ; skos:prefLabel "ใƒใ‚คใƒซใƒปใƒ‘ใƒ†ใƒฉ็—‡ๅ€™็พค"@ja . -:2200133 - :hasNotificationNumber "37" ; - terms:description "้žๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณ็”ฑๆฅใฎ็นŠ็ถญๆ€ง็‰ฉ่ณช๏ผˆใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ; FN๏ผ‰ใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ๅ‘ˆใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๆฒˆ็€ใ™ใ‚‹FNใฏ็ต„็น”็”ฑๆฅใงใชใ่ก€ๆผฟ็”ฑๆฅใงใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200133" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "้žๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณ็”ฑๆฅใฎ็นŠ็ถญๆ€ง็‰ฉ่ณช๏ผˆใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ; FN๏ผ‰ใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ๅ‘ˆใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใงใ‚ใ‚‹ใ€‚ๆฒˆ็€ใ™ใ‚‹FNใฏ็ต„็น”็”ฑๆฅใงใชใ่ก€ๆผฟ็”ฑๆฅใงใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200133" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glomerulopathy with fibronectin deposits, fibronectin nephropathy"@en, "ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Glomerulopathy with fibronectin deposits, fibronectin nephropathy"@en, "ใตใƒใถใ‚ใญใใกใ‚“ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007671 ; skos:prefLabel "ใƒ•ใ‚ฃใƒ–ใƒญใƒใ‚ฏใƒใƒณ่…Ž็—‡"@ja . -:2200134 - :hasNotificationNumber "40" ; - terms:description "ใƒชใƒ่›‹็™ฝ็ณธ็ƒไฝ“็—‡๏ผˆlipoprotein glomerulopathy; LPG๏ผ‰ใฏใ€็ณธ็ƒไฝ“ๅ†…ใซใƒชใƒ่›‹็™ฝใ‚’ๅซใ‚€่ก€ๆ “ๆง˜็‰ฉ่ณชใŒๅ‡บ็พใ™ใ‚‹ใ€็‰น็•ฐ็š„ใช่…Ž้šœๅฎณใ‚’็คบใ™ๅŽŸ็™บๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1986 ๅนดใซๆ—ฅๆœฌใงๅˆใ‚ใฆ็™บ่ฆ‹ใ•ใ‚Œ1989ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใชใ•ใ‚Œ๏ผˆ๏ผ‘๏ผ‰ใ€็พๅœจใพใงใซๆ—ฅๆœฌใ‚„ไธญๅ›ฝใ‚’ใฏใ˜ใ‚ใจใ—ใŸไธ–็•Œๅ„ๅ›ฝใง150็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผˆ๏ผ’๏ผ‰ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๆ‹กๅผตใ—ใŸ็ณธ็ƒไฝ“่ก€็ฎก่…”ใซ็ถฒ็ŠถใฎๆทกๆŸ“ๆ€ง็‰ฉ่ณชใงใ‚ใ‚‹ใƒชใƒ่›‹็™ฝใŒ่ก€ๆ “็Šถใซๅ……ๆบ€ใ™ใ‚‹็‰น็•ฐ็š„ใชๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆโ…ขๅž‹้ซ˜่„‚่ก€็—‡้กžไผผใฎๆ‰€่ฆ‹ใ‚„่ก€ๆธ…ใ‚ขใƒ่›‹็™ฝ๏ผˆใ‚ขใƒ๏ผ‰E้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใใฎๅŽŸๅ› ใจใ—ใฆใ€ใ•ใพใ–ใพใชใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใฎApoE้บไผๅญๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœช็™บ็—‡ไฟๅ› ่€…ใ‚‚ใŠใ‚Šใ€ไป–ใฎ่ฆๅ› ใฎ้–ขไธŽใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่›‹็™ฝๅฐฟใง็™บ็—‡ใ—ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็ตŒใฆ็ด„ๅŠๆ•ฐใŒๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚Šใ€่…Ž็งปๆคใ‚’ใ—ใฆใ‚‚ๅ†็™บใ—็งปๆค่…ŽใŒๅปƒ็ตถใซ่‡ณใ‚‹ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒ๏ผˆ3, 4๏ผ‰ใ€่ฟ‘ๅนดใ€ๆฒป็™‚ๆณ•ใจใ—ใฆใƒ•ใ‚ฃใƒ–ใƒฉใƒผใƒˆใ‚’ไธญๅฟƒใจใ—ใŸ้ซ˜่„‚่ก€็—‡ๆ”นๅ–„่–ฌใŒๆœ‰็”จใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผˆ๏ผ•,6, 7๏ผ‰ใ€‚"@ja ; - terms:identifier "2200134" ; - terms:source ; - a owl:Class ; - rdfs:label "Lipoprotein glomerulopathy"@en, "ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012725 ; + + nando:hasNotificationNumber "44" ; + dcterms:description "ใƒชใƒ่›‹็™ฝ็ณธ็ƒไฝ“็—‡๏ผˆlipoprotein glomerulopathy; LPG๏ผ‰ใฏใ€็ณธ็ƒไฝ“ๅ†…ใซใƒชใƒ่›‹็™ฝใ‚’ๅซใ‚€่ก€ๆ “ๆง˜็‰ฉ่ณชใŒๅ‡บ็พใ™ใ‚‹ใ€็‰น็•ฐ็š„ใช่…Ž้šœๅฎณใ‚’็คบใ™ๅŽŸ็™บๆ€ง่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1986 ๅนดใซๆ—ฅๆœฌใงๅˆใ‚ใฆ็™บ่ฆ‹ใ•ใ‚Œ1989ๅนดใซ็—‡ไพ‹ๅ ฑๅ‘ŠใŒใชใ•ใ‚Œ๏ผˆ๏ผ‘๏ผ‰ใ€็พๅœจใพใงใซๆ—ฅๆœฌใ‚„ไธญๅ›ฝใ‚’ใฏใ˜ใ‚ใจใ—ใŸไธ–็•Œๅ„ๅ›ฝใง150็—‡ไพ‹ใปใฉๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผˆ๏ผ’๏ผ‰ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๆ‹กๅผตใ—ใŸ็ณธ็ƒไฝ“่ก€็ฎก่…”ใซ็ถฒ็ŠถใฎๆทกๆŸ“ๆ€ง็‰ฉ่ณชใงใ‚ใ‚‹ใƒชใƒ่›‹็™ฝใŒ่ก€ๆ “็Šถใซๅ……ๆบ€ใ™ใ‚‹็‰น็•ฐ็š„ใชๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็”ŸๅŒ–ๅญฆ็š„็‰นๅพดใจใ—ใฆโ…ขๅž‹้ซ˜่„‚่ก€็—‡้กžไผผใฎๆ‰€่ฆ‹ใ‚„่ก€ๆธ…ใ‚ขใƒ่›‹็™ฝ๏ผˆใ‚ขใƒ๏ผ‰E้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใใฎๅŽŸๅ› ใจใ—ใฆใ€ใ•ใพใ–ใพใชใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“ใฎApoE้บไผๅญๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๆœช็™บ็—‡ไฟๅ› ่€…ใ‚‚ใŠใ‚Šใ€ไป–ใฎ่ฆๅ› ใฎ้–ขไธŽใŒ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่›‹็™ฝๅฐฟใง็™บ็—‡ใ—ใ€ใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ‚’็ตŒใฆ็ด„ๅŠๆ•ฐใŒๆ…ขๆ€ง่…Žไธๅ…จใซ่‡ณใ‚Šใ€่…Ž็งปๆคใ‚’ใ—ใฆใ‚‚ๅ†็™บใ—็งปๆค่…ŽใŒๅปƒ็ตถใซ่‡ณใ‚‹ไบˆๅพŒไธ่‰ฏใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒ๏ผˆ3, 4๏ผ‰ใ€่ฟ‘ๅนดใ€ๆฒป็™‚ๆณ•ใจใ—ใฆใƒ•ใ‚ฃใƒ–ใƒฉใƒผใƒˆใ‚’ไธญๅฟƒใจใ—ใŸ้ซ˜่„‚่ก€็—‡ๆ”นๅ–„่–ฌใŒๆœ‰็”จใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผˆ๏ผ•,6, 7๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200134" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lipoprotein glomerulopathy"@en, "ใ‚ŠใฝใŸใ‚“ใฑใใ—ใใ‚…ใ†ใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "LPG"@en ; + skos:closeMatch obo:MONDO_0012725 ; skos:prefLabel "ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ็ณธ็ƒไฝ“็—‡"@ja . -:2200135 - :hasNotificationNumber "43" ; - terms:description "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ่›‹็™ฝๅฐฟใŠใ‚ˆใณ๏ผˆใพใŸใฏ๏ผ‰่ก€ๅฐฟใฎๅฐฟๆ‰€่ฆ‹็•ฐๅธธใŒ1ๅนดไปฅไธŠ็ถšใใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹่…Ž็–พๆ‚ฃใฎ่‡จๅบŠๆฆ‚ๅฟตใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅŽŸ็–พๆ‚ฃใจใ—ใฆ๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซ่กจใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚่กจใ€€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽใฎๅŽŸ็–พๆ‚ฃ"@ja ; - terms:identifier "2200135" ; - terms:source ; - a owl:Class ; - rdfs:label "7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja, "Other chronic glomerulonephritis"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "7ใ‹ใ‚‰20ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . - -:2200136 - :hasNotificationNumber "47" ; - terms:description "ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž(TIN)ใฏ็—…็†็ต„็น”ๅญฆ็š„ๆฆ‚ๅฟตใง๏ผŒๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณ้–“่ณชใฎ็‚Ž็—‡ใ‚’ไธปไฝ“ใจใ—ใŸ้›‘ๅคšใชๅฝขๆ…‹ๅญฆ็š„ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹่…Ž็—…ๅค‰ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒๅคšๅฝฉใงๅบƒ็ฏ„ใช็—…ๅ› ๏ผŒ็—…ๆ…‹๏ผŒ่‡จๅบŠ็š„ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹(1๏ผŒ 2)ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ๏ผŒๆตฎ่…ซใ‚„็ดฐ่ƒžๆตธๆฝคใชใฉใฎๆ€ฅๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ€ฅๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใจ๏ผŒ้–“่ณช็ทš็ถญๅŒ–๏ผŒๅฐฟ็ดฐ็ฎกใฎ่Ž็ธฎใชใฉใฎๆ…ขๆ€งๅค‰ๅŒ–ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—๏ผŒๆ€ฅๆ€งใงใ‚‚ใ•ใพใ–ใพใช็จ‹ๅบฆใซ็ทš็ถญๅŒ–็—…ๅค‰ใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใพใŸๆ…ขๆ€งใงใ‚‚็‚Ž็—‡็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŸใ‚๏ผŒๆ€ฅๆ€งใƒปๆ…ขๆ€งใฎ้‘‘ๅˆฅใฏ็—…็†็ต„็น”ๆ‰€่ฆ‹ใฎใฟใงใฏๆ˜Ž็ขบใงใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏ็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใจ่‡จๅบŠ็ตŒ้Žใ‚’่€ƒๆ…ฎใ—ใฆ๏ผŒๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆ…ขๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹(2)ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใ‚„่ช˜ๅ› ใ‹ใ‚‰ๅˆ†้กžใ™ใ‚‹่€ƒใˆๆ–นใŒWHOใฎๅˆ†้กžใŒๅบƒใ็”จใ„ใ‚‰ใ‚Œใ‚‹(่กจ)(3)ใ€‚"@ja ; - terms:identifier "2200136" ; - terms:source ; - a owl:Class ; - rdfs:label "Tubulointerstitial nephritis"@en, "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "46" ; + dcterms:description "ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใฏ๏ผŒ่›‹็™ฝๅฐฟใŠใ‚ˆใณ๏ผˆใพใŸใฏ๏ผ‰่ก€ๅฐฟใฎๅฐฟๆ‰€่ฆ‹็•ฐๅธธใŒ1ๅนดไปฅไธŠ็ถšใใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹่…Ž็–พๆ‚ฃใฎ่‡จๅบŠๆฆ‚ๅฟตใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใช่‡จๅบŠ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅŽŸ็–พๆ‚ฃใจใ—ใฆ๏ผŒ็—…็†็ต„็น”ๅญฆ็š„ใซ่กจใซ็คบใ™ใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚่กจใ€€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚ŽใฎๅŽŸ็–พๆ‚ฃ"@ja ; + dcterms:identifier "NANDO:2200135" ; + dcterms:source ; + a owl:Class ; + rdfs:label "8ใ‹ใ‚‰21ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใ—ใใ‚…ใ†ใŸใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "8ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja, "Other chronic glomerulonephritis"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "8ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€ง็ณธ็ƒไฝ“่…Ž็‚Ž"@ja . + + + nando:hasNotificationNumber "50" ; + dcterms:description "ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž(TIN)ใฏ็—…็†็ต„็น”ๅญฆ็š„ๆฆ‚ๅฟตใง๏ผŒๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณ้–“่ณชใฎ็‚Ž็—‡ใ‚’ไธปไฝ“ใจใ—ใŸ้›‘ๅคšใชๅฝขๆ…‹ๅญฆ็š„ๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹่…Ž็—…ๅค‰ใฎ็ท็งฐใงใ‚ใ‚Š๏ผŒๅคšๅฝฉใงๅบƒ็ฏ„ใช็—…ๅ› ๏ผŒ็—…ๆ…‹๏ผŒ่‡จๅบŠ็š„ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹(1๏ผŒ 2)ใ€‚็—…็†็ต„็น”ๅญฆ็š„ใซ๏ผŒๆตฎ่…ซใ‚„็ดฐ่ƒžๆตธๆฝคใชใฉใฎๆ€ฅๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ€ฅๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใจ๏ผŒ้–“่ณช็ทš็ถญๅŒ–๏ผŒๅฐฟ็ดฐ็ฎกใฎ่Ž็ธฎใชใฉใฎๆ…ขๆ€งๅค‰ๅŒ–ใ‚’ไธปไฝ“ใจใ™ใ‚‹ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—๏ผŒๆ€ฅๆ€งใงใ‚‚ใ•ใพใ–ใพใช็จ‹ๅบฆใซ็ทš็ถญๅŒ–็—…ๅค‰ใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใพใŸๆ…ขๆ€งใงใ‚‚็‚Ž็—‡็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹ใŸใ‚๏ผŒๆ€ฅๆ€งใƒปๆ…ขๆ€งใฎ้‘‘ๅˆฅใฏ็—…็†็ต„็น”ๆ‰€่ฆ‹ใฎใฟใงใฏๆ˜Ž็ขบใงใชใ„ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏ็—…็†็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใจ่‡จๅบŠ็ตŒ้Žใ‚’่€ƒๆ…ฎใ—ใฆ๏ผŒๆ€ฅๆ€งใ‚ใ‚‹ใ„ใฏๆ…ขๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹(2)ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใ‚„่ช˜ๅ› ใ‹ใ‚‰ๅˆ†้กžใ™ใ‚‹่€ƒใˆๆ–นใŒWHOใฎๅˆ†้กžใŒๅบƒใ็”จใ„ใ‚‰ใ‚Œใ‚‹(่กจ)(3)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200136" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tubulointerstitial nephritis"@en, "ใพใ‚“ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ‹ใ‚“ใ—ใคใ›ใ„ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "TIN"@en ; - skos:closeMatch mondo:MONDO_0001085 ; + skos:closeMatch obo:MONDO_0001085 ; skos:prefLabel "ๆ…ขๆ€งๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Ž"@ja . -:2200137 - :hasNotificationNumber "44" ; - terms:description "ๆ…ขๆ€ง่…ŽๅญŸ่…Ž็‚Ž(chronicใ€€pyelonephritis๏ผ‰ใฏๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฐฟ่ทฏๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ๏ผŒๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Žใจ็งฐใ›ใ‚‰ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฎๆฎ†ใฉใŒ้€†ๆตๆ€ง่…Ž็—‡๏ผˆreflux nephropathy๏ผ‰ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹(1)ใ€‚"@ja ; - terms:identifier "2200137" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "ๆ…ขๆ€ง่…ŽๅญŸ่…Ž็‚Ž(chronicใ€€pyelonephritis๏ผ‰ใฏๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฐฟ่ทฏๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ๏ผŒๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Žใจ็งฐใ›ใ‚‰ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฎๆฎ†ใฉใŒ้€†ๆตๆ€ง่…Ž็—‡๏ผˆreflux nephropathy๏ผ‰ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹(1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200137" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic pyelonephritis"@en, "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001110 ; + rdfs:label "Chronic pyelonephritis"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใ†ใ˜ใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001110 ; skos:prefLabel "ๆ…ขๆ€ง่…Ž็›‚่…Ž็‚Ž"@ja . -:2200138 - :hasNotificationNumber "1" ; - terms:description "ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅฏๆบถๆ€ง่›‹็™ฝใŒๅ‡้›†ใ—๏ผŒฮฒๆง‹้€ ใ‚’ๆœ‰ใ™ใ‚‹ไธๆบถๅŒ–่›‹็™ฝใŒใ•ใพใ–ใพใช่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’ไป‹ใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒใ“ใฎใ†ใกใ‚ขใƒŸใƒญใ‚คใƒ‰่›‹็™ฝใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ—๏ผŒ็ต„็น”้šœๅฎณใ‚’่ตทใ“ใ™ใ‚‚ใฎใŒใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200138" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "ใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏๅฏๆบถๆ€ง่›‹็™ฝใŒๅ‡้›†ใ—๏ผŒฮฒๆง‹้€ ใ‚’ๆœ‰ใ™ใ‚‹ไธๆบถๅŒ–่›‹็™ฝใŒใ•ใพใ–ใพใช่‡“ๅ™จใซๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‚’ไป‹ใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒใ“ใฎใ†ใกใ‚ขใƒŸใƒญใ‚คใƒ‰่›‹็™ฝใŒ่…Ž็ณธ็ƒไฝ“ใซๆฒˆ็€ใ—๏ผŒ็ต„็น”้šœๅฎณใ‚’่ตทใ“ใ™ใ‚‚ใฎใŒใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200138" ; + dcterms:source ; a owl:Class ; - rdfs:label "Amyloid nephropathy"@en, "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Amyloid nephropathy"@en, "ใ‚ใฟใ‚ใ„ใฉใ˜ใ‚“"@ja-Hira, "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007099, obo:MONDO_0019065 ; skos:prefLabel "ใ‚ขใƒŸใƒญใ‚คใƒ‰่…Ž"@ja . -:2200139 - :hasNotificationNumber "3" ; - terms:description "่‹ฅๅนด(่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใ™ใ‚‹ๅ‰)ใ‹ใ‚‰ๆŽ’ๆณ„ไฝŽไธ‹ๅž‹้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ—๏ผŒ30๏ฝž40ๆญณไปฃใงๆœซๆœŸ่…Žไธๅ…จใซ่‡ณใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹1)ใ€‚ ้ซ˜็Ž‡ใซ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ—๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใซๅฏพใ™ใ‚‹ๅๅˆ†ใชๆฒป็™‚ใ‚’ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่…Ž้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„1๏ฝž4)ใ€‚็”ทๅฅณใจใ‚‚ใซ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€็—…ๅใซใคใ„ใฆใฏ๏ผŒๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง็—›้ขจ่…Ž็—‡(familial juvenile gouty nephropathy ;FJGN)๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่…Ž็—‡(familial nephropathy associated with hyper uricemia ; FNAH)๏ผŒๅฎถๆ—ๆ€ง่…Žๆ€ง็—›้ขจ (familial renal gout)ใชใฉใฎๅ‘ผใณๆ–นใŒใ‚ใ‚Š๏ผŒ็ตฑไธ€ใ•ใ‚Œใฆใ„ใชใ„ใ€‚่ฟ‘ๅนดuromodulin้บไผๅญ็•ฐๅธธใซๅŸบใฅใ็–พๆ‚ฃ็พคใŒๆๅ”ฑใ•ใ‚Œ๏ผŒๆœฌ็—‡ใฏ็พๅœจuromodulin้–ข้€ฃ่…Ž็–พๆ‚ฃ๏ผˆuromodulin-associated kidney diseases: UAKD๏ผ‰ใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200139" ; - terms:source ; - a owl:Class ; - rdfs:label "Familial juvenile hyperuricaemic nephropathy"@en, "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "FJHN"@en ; - skos:closeMatch mondo:MONDO_0000608, mondo:MONDO_0008073 ; + + nando:hasNotificationNumber "3" ; + dcterms:description "่‹ฅๅนด(่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใ™ใ‚‹ๅ‰)ใ‹ใ‚‰ๆŽ’ๆณ„ไฝŽไธ‹ๅž‹้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ—๏ผŒ30๏ฝž40ๆญณไปฃใงๆœซๆœŸ่…Žไธๅ…จใซ่‡ณใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹1)ใ€‚ ้ซ˜็Ž‡ใซ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ—๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใซๅฏพใ™ใ‚‹ๅๅˆ†ใชๆฒป็™‚ใ‚’ใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš่…Ž้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚‹ๅ ดๅˆใŒๅคšใ„1๏ฝž4)ใ€‚็”ทๅฅณใจใ‚‚ใซ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ€€็—…ๅใซใคใ„ใฆใฏ๏ผŒๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง็—›้ขจ่…Ž็—‡(familial juvenile gouty nephropathy ;FJGN)๏ผŒ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่…Ž็—‡(familial nephropathy associated with hyper uricemia ; FNAH)๏ผŒๅฎถๆ—ๆ€ง่…Žๆ€ง็—›้ขจ (familial renal gout)ใชใฉใฎๅ‘ผใณๆ–นใŒใ‚ใ‚Š๏ผŒ็ตฑไธ€ใ•ใ‚Œใฆใ„ใชใ„ใ€‚่ฟ‘ๅนดuromodulin้บไผๅญ็•ฐๅธธใซๅŸบใฅใ็–พๆ‚ฃ็พคใŒๆๅ”ฑใ•ใ‚Œ๏ผŒๆœฌ็—‡ใฏ็พๅœจuromodulin้–ข้€ฃ่…Ž็–พๆ‚ฃ๏ผˆuromodulin-associated kidney diseases: UAKD๏ผ‰ใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200139" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial juvenile hyperuricemic nephropathy"@en, "ใ‹ใžใใ›ใ„ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ“ใ†ใซใ‚‡ใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FJHN"@en, "Familial juvenile hyperuricaemic nephropathy"@en ; + skos:closeMatch obo:MONDO_0000608 ; skos:prefLabel "ๅฎถๆ—ๆ€ง่‹ฅๅนดๆ€ง้ซ˜ๅฐฟ้…ธ่ก€็—‡ๆ€ง่…Ž็—‡"@ja . -:2200140 - :hasNotificationNumber "26" ; - terms:description "ใƒใƒ•ใƒญใƒณ็™†(nephronophthisis: NPH)ใฏ๏ผŒ่…Ž้ซ„่ณชใซๅšข่ƒžๅฝขๆˆใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใงใ‚ใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ็กฌๅŒ–๏ผŒ็กๅญๅŒ–็ณธ็ƒไฝ“ใ‚’ไผดใ†ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ้บไผๅฝขๅผใฏ๏ผŒไธปใจใ—ใฆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™ใŒ๏ผŒๅญค็™บไพ‹ใ‚‚ใ‚ใ‚‹ (1)ใ€‚ๆœซๆœŸ่…Žไธๅ…จ(ESRD)ใซ่‡ณใ‚‹ๆ™‚ๆœŸใซใ‚ˆใ‚Š๏ผŒ3ใคใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใใ‚Œใ‚‰ใฏ๏ผŒ3-5ๆญณ้ ƒใพใงใซESRDใจใชใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒณ็™†(NPH2)๏ผŒๅนผๅฐ‘ๆœŸใ‹ใ‚‰ๅญฆ็ซฅๆœŸใพใงๆฏ”่ผƒ็š„่‹ฅๅนดๆœŸใซ็™บ็—‡ใ—๏ผŒๅนณๅ‡13-14ๆญณใงESRDใซ็งป่กŒใ™ใ‚‹่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†(NPH1)๏ผŒ ๅนณๅ‡ๅนด้ฝข19ๆญณ้ ƒใซESRDใซ่‡ณใ‚‹ๆ€ๆ˜ฅๆœŸใƒใƒ•ใƒญใƒณ็™†(NPH3)ใงใ‚ใ‚Š๏ผŒใชใ‹ใงใ‚‚ๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใŒ่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†ใงใ‚ใ‚‹ใ€‚็พๅœจ๏ผŒใƒใƒ•ใƒญใƒณ็™†ใซใฏ๏ผŒNPHP1๏ฝžNPHP16ใพใงใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒ๏ผŒใ“ใ‚Œใ‚‰ใฎใ„ใšใ‚Œใฎ้บไผๅญใซใ‚‚็•ฐๅธธใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ใ‚‚ใฎใ‚‚ๅฐ‘ใชใ‹ใ‚‰ใšๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใซๅฏพใ™ใ‚‹็‰นๆฎŠใชๆฒป็™‚ๆณ•ใฏใชใ๏ผŒESRDใฏ้ฟใ‘ใ‚‰ใ‚Œใชใ„็Šถๆณใซใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200140" ; - terms:source ; - a owl:Class ; - rdfs:label "Nephronophthisis"@en, "ใƒใƒ•ใƒญใƒณ็™†"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "NPH"@en, "juvenile nephronophthisis "@en ; - skos:closeMatch mondo:MONDO_0009366, mondo:MONDO_0009728, mondo:MONDO_0019005 ; + + nando:hasNotificationNumber "29" ; + dcterms:description "ใƒใƒ•ใƒญใƒณ็™†(nephronophthisis: NPH)ใฏ๏ผŒ่…Ž้ซ„่ณชใซๅšข่ƒžๅฝขๆˆใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใฎไปฃ่กจใงใ‚ใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏ๏ผŒ้€ฒ่กŒๆ€งใฎ็กฌๅŒ–๏ผŒ็กๅญๅŒ–็ณธ็ƒไฝ“ใ‚’ไผดใ†ๅฐฟ็ดฐ็ฎก้–“่ณชๆ€ง่…Ž็‚Žๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ้บไผๅฝขๅผใฏ๏ผŒไธปใจใ—ใฆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™ใŒ๏ผŒๅญค็™บไพ‹ใ‚‚ใ‚ใ‚‹ (1)ใ€‚ๆœซๆœŸ่…Žไธๅ…จ(ESRD)ใซ่‡ณใ‚‹ๆ™‚ๆœŸใซใ‚ˆใ‚Š๏ผŒ3ใคใฎใ‚ตใƒ–ใ‚ฟใ‚คใƒ—ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใใ‚Œใ‚‰ใฏ๏ผŒ3-5ๆญณ้ ƒใพใงใซESRDใจใชใ‚‹ไนณๅ…ใƒใƒ•ใƒญใƒณ็™†(NPH2)๏ผŒๅนผๅฐ‘ๆœŸใ‹ใ‚‰ๅญฆ็ซฅๆœŸใพใงๆฏ”่ผƒ็š„่‹ฅๅนดๆœŸใซ็™บ็—‡ใ—๏ผŒๅนณๅ‡13-14ๆญณใงESRDใซ็งป่กŒใ™ใ‚‹่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†(NPH1)๏ผŒ ๅนณๅ‡ๅนด้ฝข19ๆญณ้ ƒใซESRDใซ่‡ณใ‚‹ๆ€ๆ˜ฅๆœŸใƒใƒ•ใƒญใƒณ็™†(NPH3)ใงใ‚ใ‚Š๏ผŒใชใ‹ใงใ‚‚ๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ‚‚ใฎใŒ่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†ใงใ‚ใ‚‹ใ€‚็พๅœจ๏ผŒใƒใƒ•ใƒญใƒณ็™†ใซใฏ๏ผŒNPHP1๏ฝžNPHP16ใพใงใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒ๏ผŒใ“ใ‚Œใ‚‰ใฎใ„ใšใ‚Œใฎ้บไผๅญใซใ‚‚็•ฐๅธธใ‚’่ฆ‹ใ„ใ ใ›ใชใ„ใ‚‚ใฎใ‚‚ๅฐ‘ใชใ‹ใ‚‰ใšๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใซๅฏพใ™ใ‚‹็‰นๆฎŠใชๆฒป็™‚ๆณ•ใฏใชใ๏ผŒESRDใฏ้ฟใ‘ใ‚‰ใ‚Œใชใ„็Šถๆณใซใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200140" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nephronophthisis"@en, "ใญใตใ‚ใ‚“ใ‚ใ†"@ja-Hira, "ใƒใƒ•ใƒญใƒณ็™†"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Juvenile nephronophthisis"@en, "NPH"@en ; + skos:closeMatch obo:MONDO_0009728, obo:MONDO_0019005 ; skos:prefLabel "ใƒใƒ•ใƒญใƒณ็™†"@ja . -:2200141 - :hasNotificationNumber "12" ; - terms:description "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœงใฏๅคงๅ‹•่„ˆใ‹ใ‚‰่…Ž่‡“ใธใจใคใชใŒใ‚‹่…Žๅ‹•่„ˆใพใŸใฏใใฎๅˆ†ๆžใŒ้ƒจๅˆ†็š„ใ‚ใ‚‹ใ„ใฏๅฎŒๅ…จใซ้–‰ๅกžใ—ใŸ็ตๆžœ๏ผŒใƒฌใƒ‹ใƒณใƒปใ‚ขใƒณใ‚ธใ‚ชใƒ†ใƒณใ‚ทใƒณ็ณปใŒๅ†—้€ฒใ—ใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹้ซ˜่ก€ๅœงใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸๅ› ใจใ—ใฆๆˆไบบใงใฏๅ‹•่„ˆ็กฌๅŒ–็—‡๏ผˆ็ฒฅ็Šถๅ‹•่„ˆ็กฌๅŒ–๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ๏ผŒๅฐๅ…ใƒป่‹ฅๅนด่€…ใงใฏ็ทš็ถญ็ญ‹็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ„(1, 2)ใ€‚"@ja ; - terms:identifier "2200141" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœงใฏๅคงๅ‹•่„ˆใ‹ใ‚‰่…Ž่‡“ใธใจใคใชใŒใ‚‹่…Žๅ‹•่„ˆใพใŸใฏใใฎๅˆ†ๆžใŒ้ƒจๅˆ†็š„ใ‚ใ‚‹ใ„ใฏๅฎŒๅ…จใซ้–‰ๅกžใ—ใŸ็ตๆžœ๏ผŒใƒฌใƒ‹ใƒณใƒปใ‚ขใƒณใ‚ธใ‚ชใƒ†ใƒณใ‚ทใƒณ็ณปใŒๅ†—้€ฒใ—ใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹้ซ˜่ก€ๅœงใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸๅ› ใจใ—ใฆๆˆไบบใงใฏๅ‹•่„ˆ็กฌๅŒ–็—‡๏ผˆ็ฒฅ็Šถๅ‹•่„ˆ็กฌๅŒ–๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ๏ผŒๅฐๅ…ใƒป่‹ฅๅนด่€…ใงใฏ็ทš็ถญ็ญ‹็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๅคšใ„(1, 2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200141" ; + dcterms:source ; a owl:Class ; - rdfs:label "Renovascular hypertension"@en, "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001105, mondo:MONDO_0006947 ; + rdfs:label "Renovascular hypertension"@en, "ใ˜ใ‚“ใ‘ใฃใ‹ใ‚“ใ›ใ„ใ“ใ†ใ‘ใคใ‚ใค"@ja-Hira, "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001105, obo:MONDO_0006947 ; skos:prefLabel "่…Ž่ก€็ฎกๆ€ง้ซ˜่ก€ๅœง"@ja . -:2200142 - :hasNotificationNumber "13" ; - terms:description "่…Ž้™่„ˆ่ก€ๆ “็—‡ใฏ๏ผŒ่…Ž้™่„ˆๅ†…ใฎ่ก€ๆ “ๅฝขๆˆใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200142" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "่…Ž้™่„ˆ่ก€ๆ “็—‡ใฏ๏ผŒ่…Ž้™่„ˆๅ†…ใฎ่ก€ๆ “ๅฝขๆˆใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200142" ; + dcterms:source ; a owl:Class ; - rdfs:label "Renal vein thrombosis"@en, "่…Ž้™่„ˆ่ก€ๆ “็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Renal vein thrombosis"@en, "ใ˜ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‘ใฃใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่…Ž้™่„ˆ่ก€ๆ “็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "RVT"@en ; skos:prefLabel "่…Ž้™่„ˆ่ก€ๆ “็—‡"@ja . -:2200143 - :hasNotificationNumber "14" ; - terms:description "่…Žๅ‹•้™่„ˆ็—ฉใฏๅŽŸๅ› ใซใ‚ˆใ‚‰ใš๏ผŒ่…Žๅ†…ใง้™่„ˆ็ณปใจๅ‹•่„ˆ็ณปใŒ็•ฐๅธธใชไบค้€šใ‚’ใ‚‚ใฃใŸใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹(1)ใ€‚ๆœฌ็—‡ใฏๆฏ”่ผƒ็š„ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็„ก็—‡ๅ€™ใงๆฝœๅœจใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚‚็›ธๅฝ“ๆ•ฐใ‚ใ‚‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎ็–พๆ‚ฃใฎ็ฒพๆŸปใซใฆๆ–ฝ่กŒใ•ใ‚ŒใŸ็”ปๅƒๆคœๆŸปใงๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "2200143" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "่…Žๅ‹•้™่„ˆ็—ฉใฏๅŽŸๅ› ใซใ‚ˆใ‚‰ใš๏ผŒ่…Žๅ†…ใง้™่„ˆ็ณปใจๅ‹•่„ˆ็ณปใŒ็•ฐๅธธใชไบค้€šใ‚’ใ‚‚ใฃใŸใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹(1)ใ€‚ๆœฌ็—‡ใฏๆฏ”่ผƒ็š„ใพใ‚Œใช็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็„ก็—‡ๅ€™ใงๆฝœๅœจใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚‚็›ธๅฝ“ๆ•ฐใ‚ใ‚‹ใจๆŽจๅฏŸใ•ใ‚Œใ‚‹ใ€‚ไป–ใฎ็–พๆ‚ฃใฎ็ฒพๆŸปใซใฆๆ–ฝ่กŒใ•ใ‚ŒใŸ็”ปๅƒๆคœๆŸปใงๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200143" ; + dcterms:source ; a owl:Class ; - rdfs:label "Renal arteriovenous fistula"@en, "่…Žๅ‹•้™่„ˆ็˜ป"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Renal arteriovenous fistula"@en, "ใ˜ใ‚“ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚ใ†"@ja-Hira, "่…Žๅ‹•้™่„ˆ็˜ป"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่…Žๅ‹•้™่„ˆ็˜ป"@ja . -:2200144 - :hasNotificationNumber "16" ; - terms:description "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆrenal tubular acidosis : RTA๏ผ‰ใฏ๏ผŒๅ…ˆๅคฉๆ€งใ‚ใ‚‹ใ„ใฏๅพŒๅคฉๆ€งใฎ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒๅฐฟไธญใธใฎ้…ธๆŽ’ๆณ„ใŒ้šœๅฎณใ•ใ‚Œ๏ผŒ้…ธ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใก้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹RTAใŒ้ ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(distal RTA๏ผšdRTA๏ผŒIๅž‹RTA)๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹RTAใŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(proximal RTA๏ผšpRTA๏ผŒIIๅž‹RTA)๏ผŒ้ ไฝๅฐฟ็ดฐ็ฎกใงใฎๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆฑ ้šœๅฎณใจ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ้šœๅฎณใ‚’ๅˆไฝตใ—ใŸ็Šถๆ…‹ใ‚’hybrid RTA(IIIๅž‹RTA)๏ผŒใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏไฝœ็”จไธๅ…จใซใ‚ˆใ‚Š้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Kใจๆฐด็ด ใ‚คใ‚ชใƒณใฎๆŽ’ๆฑ ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚’้ซ˜K่ก€ๆ€งdRTA(hyper K dRTA๏ผŒIVๅž‹RTA)ใจใ‚ˆใถใ€‚ใŸใ ใ—๏ผŒIIIๅž‹ใฏไนณๅนผๅ…ใซๅคšใใฟใ‚‰ใ‚Œใ‚‹Iๅž‹RTAใฎ้‡็—‡ๅž‹ใจใ•ใ‚Œ๏ผŒ็พๅœจใงใฏ็”จใ„ใ‚‰ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "2200144" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผˆrenal tubular acidosis : RTA๏ผ‰ใฏ๏ผŒๅ…ˆๅคฉๆ€งใ‚ใ‚‹ใ„ใฏๅพŒๅคฉๆ€งใฎ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒๅฐฟไธญใธใฎ้…ธๆŽ’ๆณ„ใŒ้šœๅฎณใ•ใ‚Œ๏ผŒ้…ธ่ก€็—‡ใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใก้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆณ„้šœๅฎณใซใ‚ˆใ‚‹RTAใŒ้ ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(distal RTA๏ผšdRTA๏ผŒIๅž‹RTA)๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚‹RTAใŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(proximal RTA๏ผšpRTA๏ผŒIIๅž‹RTA)๏ผŒ้ ไฝๅฐฟ็ดฐ็ฎกใงใฎๆฐด็ด ใ‚คใ‚ชใƒณๆŽ’ๆฑ ้šœๅฎณใจ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงใฎ้‡็‚ญ้…ธใ‚คใ‚ชใƒณๅ†ๅธๅŽ้šœๅฎณใ‚’ๅˆไฝตใ—ใŸ็Šถๆ…‹ใ‚’hybrid RTA(IIIๅž‹RTA)๏ผŒใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฌ ไนใ‚ใ‚‹ใ„ใฏไฝœ็”จไธๅ…จใซใ‚ˆใ‚Š้ ไฝๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Kใจๆฐด็ด ใ‚คใ‚ชใƒณใฎๆŽ’ๆฑ ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚’้ซ˜K่ก€ๆ€งdRTA(hyper K dRTA๏ผŒIVๅž‹RTA)ใจใ‚ˆใถใ€‚ใŸใ ใ—๏ผŒIIIๅž‹ใฏไนณๅนผๅ…ใซๅคšใใฟใ‚‰ใ‚Œใ‚‹Iๅž‹RTAใฎ้‡็—‡ๅž‹ใจใ•ใ‚Œ๏ผŒ็พๅœจใงใฏ็”จใ„ใ‚‰ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200144" ; + dcterms:source ; a owl:Class ; - rdfs:label "Renal tubular acidosis"@en, "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Renal tubular acidosis"@en, "ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใ›ใ„ใ‚ใ—ใฉใƒผใ—ใ™"@ja-Hira, "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "RTA"@en ; - skos:closeMatch mondo:MONDO_0001909 ; + skos:closeMatch obo:MONDO_0001909 ; skos:prefLabel "ๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:2200145 - :hasNotificationNumber "4" ; - terms:description "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚"@ja ; - terms:identifier "2200145" ; - terms:source ; - a owl:Class ; - rdfs:label "Gitelman Bartter syndrome"@en, "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Gitelman็—‡ๅ€™็พค"@ja ; + + nando:hasNotificationNumber "4" ; + dcterms:description "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200145" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gitelman syndrome"@en, "ใŽใฃใฆใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GS"@en, "Gitelman็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009904 ; skos:prefLabel "ใ‚ฎใƒƒใƒ†ใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja . -:2200146 - :hasNotificationNumber "27" ; - terms:description "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚"@ja ; - terms:identifier "2200146" ; - terms:source ; - a owl:Class ; - rdfs:label "Bartter Gitelman syndrome"@en, "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Bartter็—‡ๅ€™็พค"@ja ; + + nando:hasNotificationNumber "30" ; + dcterms:description "Bartter็—‡ๅ€™็พค(BS)๏ผŒGitelman็—‡ๅ€™็พค(GS)ใฏไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใซไผดใ†็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚BSใฏ่‡จๅบŠ็š„ใซใฏ๏ผŒๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹้‡็—‡ๅž‹ใฎๆ–ฐ็”Ÿๅ…ๅž‹ใจ๏ผŒไนณๅนผๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ๅž‹ใฎๅคๅ…ธๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚BSใฏไธ€่ˆฌ็š„ใซๆญฃๅธธ่ก€ๆธ…ใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ๅ€คใŠใ‚ˆใณ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒGSใงใฏไฝŽใƒžใ‚ฐใƒใ‚ทใ‚ฆใƒ ่ก€็—‡๏ผŒไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ„๏ผŒ่‡จๅบŠ็—‡็Šถใ‚‚่ปฝใ„ใ“ใจใงBSใจ้‘‘ๅˆฅ่จบๆ–ญใงใใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฎๅˆ†ๅญ็”Ÿ็‰ฉๅญฆใฎ้€ฒๆญฉใซไผดใ„๏ผŒ1ๅž‹๏ฝž4bๅž‹(5ๅž‹)BSใŠใ‚ˆใณGSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒ็คบใ•ใ‚ŒใŸ1๏ฝž8)ใ€‚ใใฎ็ตๆžœ๏ผŒๅพ“ๆฅใฎ่‡จๅบŠๅˆ†้กžใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ๅž‹BS๏ผŒๅคๅ…ธๅž‹BS๏ผŒGSใจใ„ใ†ๅˆ†้กžใŒใใฎๅŽŸๅ› ้บไผๅญๅค‰็•ฐใซไผดใ†่‡จๅบŠ็—‡็Šถใจๅฟ…ใšใ—ใ‚‚1ๅฏพ1ใงๅฏพๅฟœใ—ใชใ„ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Š๏ผŒ่‡จๅบŠใซใŠใ„ใฆใใฎ่จบๆ–ญใซๅคงใใชๆททไนฑใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒไบŒๆฌก็š„่ฆๅ› ใ‚„ไป–ใฎๅ…ˆๅคฉๆ€งๅฐฟ็ดฐ็ฎก็•ฐๅธธ็—‡ใซไผดใ†ๅฝๆ€งBS๏ผŒๅฝๆ€งGSใฎ็™บ็—‡้ ปๅบฆใฏๆ„ๅค–ใซ้ซ˜ใ๏ผŒใ“ใ‚Œใ‚‰ใฎ็—‡ไพ‹ใซใŠใ‘ใ‚‹่‡จๅบŠ่จบๆ–ญใฏ้žๅธธใซ้›ฃใ—ใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใฏBS๏ผŒGSใ‚’ไธ€ใคใฎ็–พๆ‚ฃๆฆ‚ๅฟตใจๆ‰ใˆ๏ผŒ้บไผๆ€งๅกฉ้กžๅ–ชๅคฑๆ€งๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธ็—‡(salt-losingใ€€tubulopathy)ใจ็ท็งฐใ™ใ‚‹ๅ‚พๅ‘ใซใ‚ใ‚‹4)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200146" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bartter syndrome"@en, "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "BS"@en, "Bartter็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0015231 ; skos:prefLabel "ใƒใƒผใ‚ฟใƒผ็—‡ๅ€™็พค"@ja . -:2200147 - :hasNotificationNumber "15" ; - terms:description "ๅฐฟ่ทฏใซ็ต็ŸณใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ๅฐฟ่ทฏ็ต็Ÿณ็—‡ใจใ„ใ„๏ผŒ่…Ž๏ฝžๅฐฟ็ฎกๅ†…ใซ็”Ÿใ˜ใ‚‹ไธŠ้ƒจๅฐฟ่ทฏ็ต็Ÿณใจ๏ผŒ่†€่ƒฑ๏ฝžๅฐฟ้“ใซ็”Ÿใ˜ใ‚‹ไธ‹้ƒจๅฐฟ่ทฏ็ต็ŸณใจใซๅŒบๅˆฅใ™ใ‚‹ใ€‚ๅฐๅ…ใฎๅฐฟ่ทฏ็ต็ŸณใฏๆˆไบบใจๅŒๆง˜ใซไธŠ้ƒจๅฐฟ่ทฏใŒๅคšใ„ใŒ๏ผŒ้ ปๅบฆใฏไฝŽใๅ…จๅฐฟ่ทฏ็ต็Ÿณๆ‚ฃ่€…ใฎ1๏ผ…ใฎ็™บ็—‡็Ž‡ใงใ‚ใ‚‹(1)ใ€‚ๆ€งๅทฎใฏใฟใ‚‰ใ‚Œใš๏ผŒใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)็ต็Ÿณใ‚„ๆ„ŸๆŸ“็ต็Ÿณใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ใพใŸ๏ผŒไปฃ่ฌ็•ฐๅธธใ‚„ๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200147" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "ๅฐฟ่ทฏใซ็ต็ŸณใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ๅฐฟ่ทฏ็ต็Ÿณ็—‡ใจใ„ใ„๏ผŒ่…Ž๏ฝžๅฐฟ็ฎกๅ†…ใซ็”Ÿใ˜ใ‚‹ไธŠ้ƒจๅฐฟ่ทฏ็ต็Ÿณใจ๏ผŒ่†€่ƒฑ๏ฝžๅฐฟ้“ใซ็”Ÿใ˜ใ‚‹ไธ‹้ƒจๅฐฟ่ทฏ็ต็ŸณใจใซๅŒบๅˆฅใ™ใ‚‹ใ€‚ๅฐๅ…ใฎๅฐฟ่ทฏ็ต็ŸณใฏๆˆไบบใจๅŒๆง˜ใซไธŠ้ƒจๅฐฟ่ทฏใŒๅคšใ„ใŒ๏ผŒ้ ปๅบฆใฏไฝŽใๅ…จๅฐฟ่ทฏ็ต็Ÿณๆ‚ฃ่€…ใฎ1๏ผ…ใฎ็™บ็—‡็Ž‡ใงใ‚ใ‚‹(1)ใ€‚ๆ€งๅทฎใฏใฟใ‚‰ใ‚Œใš๏ผŒใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)็ต็Ÿณใ‚„ๆ„ŸๆŸ“็ต็Ÿณใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ใพใŸ๏ผŒไปฃ่ฌ็•ฐๅธธใ‚„ๅฐฟ่ทฏๅฅ‡ๅฝขใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใฎใ‚‚็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200147" ; + dcterms:source ; a owl:Class ; - rdfs:label "Nephro- and urolithiasis"@en, "่…Žๅฐฟ็ฎก็ต็Ÿณ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Nephro- and urolithiasis"@en, "ใ˜ใ‚“ใซใ‚‡ใ†ใ‹ใ‚“ใ‘ใฃใ›ใ"@ja-Hira, "่…Žๅฐฟ็ฎก็ต็Ÿณ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Nephro-urolithiasis"@en ; skos:prefLabel "่…Žๅฐฟ็ฎก็ต็Ÿณ"@ja . -:2200148 - :hasNotificationNumber "46" ; - terms:description "่…Ž่…ซ็˜ใฏ่…ŽๅฎŸ่ณชใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚Š๏ผŒ่…ŽๅฎŸ่ณชใ‚’ๆง‹ๆˆใ™ใ‚‹ๆˆๅˆ†ใงใ‚ใ‚‹ๅฐฟ็ดฐ็ฎกใ‚„้›†ๅˆ็ฎกใชใฉใฎไธŠ็šฎใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€ง่…ซ็˜ใจ๏ผŒๅนณๆป‘็ญ‹ใ‚„่„‚่‚ชใชใฉ้žไธŠ็šฎๆ€งๆˆๅˆ†ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹้žไธŠ็šฎๆ€ง่…ซ็˜ใŠใ‚ˆใณไธŠ็šฎๆ€งๆˆๅˆ†ใจ้žไธŠ็šฎๆ€งๆˆๅˆ†ใฎๆททๅœจใ™ใ‚‹ใใฎไป–ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใฟใ‚‰ใ‚Œใ‚‹่…Ž่…ซ็˜ใฎ็ด„90๏ผ…ใฏ๏ผŒไธŠ็šฎๆˆๅˆ†ใจ้žไธŠ็šฎๆˆๅˆ†ใŒๆททๅœจใ™ใ‚‹่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใงใ‚ใ‚‹ใ€‚ใ€€่…ซ็˜ใฎๅข—ๅคงใซใ‚ˆใ‚‹่…ŽๅฎŸ่ณชใฎ็›ดๆŽฅ็š„ใชไพต่ฅฒใฎใฟใชใ‚‰ใš๏ผŒๆฒป็™‚ใจใ—ใฆใŠใ“ใชใ†่…ซ็˜ๆ‘˜ๅ‡บใ‚„่…Žๅ…จๆ‘˜่ก“๏ผŒๅŒ–ๅญฆ็™‚ๆณ•๏ผŒๆ”พๅฐ„็ทš็™‚ๆณ•ใชใฉใฎๆฒป็™‚ใŒ่…ŽๆฉŸ่ƒฝใฎๅ–ชๅคฑใ‚„ๆ…ขๆ€ง่…Žไธๅ…จใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200148" ; - terms:source ; + + nando:hasNotificationNumber "49" ; + dcterms:description "่…Ž่…ซ็˜ใฏ่…ŽๅฎŸ่ณชใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใงใ‚ใ‚Š๏ผŒ่…ŽๅฎŸ่ณชใ‚’ๆง‹ๆˆใ™ใ‚‹ๆˆๅˆ†ใงใ‚ใ‚‹ๅฐฟ็ดฐ็ฎกใ‚„้›†ๅˆ็ฎกใชใฉใฎไธŠ็šฎใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹ไธŠ็šฎๆ€ง่…ซ็˜ใจ๏ผŒๅนณๆป‘็ญ‹ใ‚„่„‚่‚ชใชใฉ้žไธŠ็šฎๆ€งๆˆๅˆ†ใ‹ใ‚‰็™บ็”Ÿใ™ใ‚‹้žไธŠ็šฎๆ€ง่…ซ็˜ใŠใ‚ˆใณไธŠ็šฎๆ€งๆˆๅˆ†ใจ้žไธŠ็šฎๆ€งๆˆๅˆ†ใฎๆททๅœจใ™ใ‚‹ใใฎไป–ใฎ่…ซ็˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใฟใ‚‰ใ‚Œใ‚‹่…Ž่…ซ็˜ใฎ็ด„90๏ผ…ใฏ๏ผŒไธŠ็šฎๆˆๅˆ†ใจ้žไธŠ็šฎๆˆๅˆ†ใŒๆททๅœจใ™ใ‚‹่…Ž่Šฝ่…ซ๏ผˆWilms่…ซ็˜๏ผ‰ใงใ‚ใ‚‹ใ€‚ใ€€่…ซ็˜ใฎๅข—ๅคงใซใ‚ˆใ‚‹่…ŽๅฎŸ่ณชใฎ็›ดๆŽฅ็š„ใชไพต่ฅฒใฎใฟใชใ‚‰ใš๏ผŒๆฒป็™‚ใจใ—ใฆใŠใ“ใชใ†่…ซ็˜ๆ‘˜ๅ‡บใ‚„่…Žๅ…จๆ‘˜่ก“๏ผŒๅŒ–ๅญฆ็™‚ๆณ•๏ผŒๆ”พๅฐ„็ทš็™‚ๆณ•ใชใฉใฎๆฒป็™‚ใŒ่…ŽๆฉŸ่ƒฝใฎๅ–ชๅคฑใ‚„ๆ…ขๆ€ง่…Žไธๅ…จใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200148" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic renal failure due to renal tumour"@en, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Chronic renal failure due to renal tumour"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใ˜ใ‚“ใ—ใ‚…ใ‚ˆใ†ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่…ซ็˜ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200149 - :hasNotificationNumber "45" ; - terms:description "ๆ€ฅๆ€ง่…Žไธๅ…จ(acute renal failure: ARF)ใฏ๏ผŒ่ก€ๆธ…ใ‚ฏใƒฌใ‚กใƒใƒ‹ใƒณ(Cr)ๅ€คใ‚„่ก€ๆถฒๅฐฟ็ด ็ช’็ด (BUN)ๅ€คใฎไธŠๆ˜‡ใง็คบใ•ใ‚Œใ‚‹่…ŽๆฉŸ่ƒฝใฎๆ€ฅ้€ŸใชไฝŽไธ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚‚ใฎใง๏ผŒ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆใฏ๏ผŒๆ•ฐๆ—ฅใ‹ใ‚‰ๆ•ฐ้€ฑ้–“ใฎ็ตŒ้Žใง๏ผŒๆ€ฅ้€Ÿใซ่…ŽๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ใฆ่›‹็™ฝใฎๆœ€็ต‚็”ฃ็‰ฉใ‚’ใฏใ˜ใ‚ใจใ—ใŸ่€ๅปƒ็‰ฉใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใŸ็ตๆžœ๏ผŒ้ซ˜็ช’็ด ่ก€็—‡๏ผŒๆบขๆฐดใƒป้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใชใฉใฎๆฐด้›ป่งฃ่ณช็•ฐๅธธ๏ผŒไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎ้…ธๅกฉๅŸบๅนณ่กกใฎ้šœๅฎณใŒๅ‡บ็พใ™ใ‚‹็—‡ๅ€™็พคใจใ•ใ‚ŒใฆใใŸใ€‚ARFใฎ่จบๆ–ญๅŸบๆบ–ใจใ—ใฆใฏ๏ผŒใ€Œโ‘ ่ก€ๆธ…Crๅ€คใŒ2.0๏ฝž2.5mg/dLไปฅไธŠใซๆ€ฅ้€ŸใซไธŠๆ˜‡๏ผŒโ‘กๅŸบ็คŽใซ่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ๏ผŒ่ก€ๆธ…Crๅ€คใŒๅ‰ๅ€คใฎ50%ไปฅไธŠไธŠๆ˜‡๏ผŒโ‘ข่ก€ๆธ…Crๅ€คใŒ0.5mg/dL/ๆ—ฅ๏ผŒใ‚‚ใ—ใใฏBUNใŒ10mg/dL/ๆ—ฅไปฅไธŠใฎ้€ŸๅบฆใงไธŠๆ˜‡๏ผŒใฎใ„ใšใ‚Œใ‹ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ‚‚ใฎใ€ใจ็คบใ•ใ‚ŒใฆใใŸ(1)ใ€‚ใ—ใ‹ใ—๏ผŒARFใงใฏ๏ผŒ่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใฎ็จ‹ๅบฆใ‚„้€Ÿๅบฆใซใคใ„ใฆใฎไธ–็•Œๆจ™ๆบ–ใฎ่จบๆ–ญๅŸบๆบ–ใฏ๏ผŒใ“ใ‚Œใพใง็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ‹ใฃใŸใ€‚ใใฎใŸใ‚๏ผŒARFใฎๆญปไบก็Ž‡ใŒๆธ›ๅฐ‘ใ›ใš๏ผŒ50%ไปฅไธŠใฎ็Šถๆ…‹ใŒ็ถšใ„ใฆใ„ใŸใ€‚ARFใฎ้ซ˜ใ„ๆญปไบก็Ž‡ใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซใฏ๏ผŒ่จบๆ–ญๅŸบๆบ–ใ‚’ไธ–็•Œ็š„ใซ็ตฑไธ€ใ—๏ผŒใ‚จใƒ“ใƒ‡ใƒณใ‚นใ‚’ๅ…ฑๆœ‰ใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ๏ผŒๅพ“ๆฅ่‡จๅบŠไธŠใปใจใ‚“ใฉๅ•้กŒ่ฆ–ใ•ใ‚Œใชใ‹ใฃใŸใ‚ใšใ‹ใช่ก€ๆธ…Crๅ€คใฎไธŠๆ˜‡ใŒ๏ผŒๆ‚ฃ่€…ใฎๆญปไบกใซๅคงใใๅฏ„ไธŽใ™ใ‚‹ใ“ใจใŒใƒกใ‚ฟใ‚ขใƒŠใƒชใ‚ทใ‚นใงใ‚‚ๆคœ่จผใ•ใ‚Œ๏ผŒใ“ใ‚ŒใพใงARFใซ้™ฅใฃใฆใ‹ใ‚‰่ก€ๆถฒๆต„ๅŒ–็™‚ๆณ•ใ‚’่กŒใ†ๅฏพ่ฑกใ‚’๏ผŒ็”Ÿๅ‘ฝไบˆๅพŒใซ็›ดๆŽฅๅฝฑ้Ÿฟใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใจใ—ใฆ๏ผŒใ‚ˆใ‚Šๆ—ฉๆœŸใ‚ใ‚‹ใ„ใฏ่ปฝ็—‡ใฎๆฎต้šŽใ‹ใ‚‰๏ผŒ็ฉๆฅต็š„ใซ่จบๆ–ญใƒปๆฒป็™‚ไป‹ๅ…ฅใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใจใชใ‚Š๏ผŒๅพ“ๆฅใฎARFใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury:AKI)ใธ๏ผŒใ‚ˆใ‚ŠๅŒ…ๆ‹ฌ็š„ใซๆ€ฅๆฟ€ใช่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ใใŸใ™็—…ๆ…‹ใŒๆๅ”ฑใ•ใ‚Œใ‚‹ใซ่‡ณใฃใŸใ€‚ใ€€ใ—ใ‹ใ—๏ผŒๅฐๅ…AKIใฎๆญปไบก็Ž‡ใฏ๏ผŒ่ฟ‘ๅนดใฎ่…Žไปฃๆ›ฟ็™‚ๆณ•ใฎ้€ฒๆญฉใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ35๏ฝž73%ใจไธ่‰ฏใงใ‚ใ‚‹ใ€‚็‰นใซ๏ผŒๆ•—่ก€็—‡ๅˆไฝตไพ‹๏ผŒๅฟƒ็–พๆ‚ฃๆ‰‹่ก“ไพ‹๏ผŒๆ‚ชๆ€ง่…ซ็˜ๅˆไฝตไพ‹๏ผŒใใ—ใฆๅคš่‡“ๅ™จไธๅ…จไพ‹ใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒAKIใ‹ใ‚‰ๅ›žๅพฉใ—ใฆใ‚‚CKDใซ็งป่กŒใ™ใ‚‹็ขบ็Ž‡ใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใพใงใฎๅ ฑๅ‘Šใง40๏ฝž60%ใซ้”ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200149" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:description "ๆ€ฅๆ€ง่…Žไธๅ…จ(acute renal failure: ARF)ใฏ๏ผŒ่ก€ๆธ…ใ‚ฏใƒฌใ‚กใƒใƒ‹ใƒณ(Cr)ๅ€คใ‚„่ก€ๆถฒๅฐฟ็ด ็ช’็ด (BUN)ๅ€คใฎไธŠๆ˜‡ใง็คบใ•ใ‚Œใ‚‹่…ŽๆฉŸ่ƒฝใฎๆ€ฅ้€ŸใชไฝŽไธ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ‚‚ใฎใง๏ผŒ็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆใฏ๏ผŒๆ•ฐๆ—ฅใ‹ใ‚‰ๆ•ฐ้€ฑ้–“ใฎ็ตŒ้Žใง๏ผŒๆ€ฅ้€Ÿใซ่…ŽๆฉŸ่ƒฝใŒไฝŽไธ‹ใ—ใฆ่›‹็™ฝใฎๆœ€็ต‚็”ฃ็‰ฉใ‚’ใฏใ˜ใ‚ใจใ—ใŸ่€ๅปƒ็‰ฉใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใŸ็ตๆžœ๏ผŒ้ซ˜็ช’็ด ่ก€็—‡๏ผŒๆบขๆฐดใƒป้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใชใฉใฎๆฐด้›ป่งฃ่ณช็•ฐๅธธ๏ผŒไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใชใฉใฎ้…ธๅกฉๅŸบๅนณ่กกใฎ้šœๅฎณใŒๅ‡บ็พใ™ใ‚‹็—‡ๅ€™็พคใจใ•ใ‚ŒใฆใใŸใ€‚ARFใฎ่จบๆ–ญๅŸบๆบ–ใจใ—ใฆใฏ๏ผŒใ€Œโ‘ ่ก€ๆธ…Crๅ€คใŒ2.0๏ฝž2.5mg/dLไปฅไธŠใซๆ€ฅ้€ŸใซไธŠๆ˜‡๏ผŒโ‘กๅŸบ็คŽใซ่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ๏ผŒ่ก€ๆธ…Crๅ€คใŒๅ‰ๅ€คใฎ50%ไปฅไธŠไธŠๆ˜‡๏ผŒโ‘ข่ก€ๆธ…Crๅ€คใŒ0.5mg/dL/ๆ—ฅ๏ผŒใ‚‚ใ—ใใฏBUNใŒ10mg/dL/ๆ—ฅไปฅไธŠใฎ้€ŸๅบฆใงไธŠๆ˜‡๏ผŒใฎใ„ใšใ‚Œใ‹ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ‚‚ใฎใ€ใจ็คบใ•ใ‚ŒใฆใใŸ(1)ใ€‚ใ—ใ‹ใ—๏ผŒARFใงใฏ๏ผŒ่…ŽๆฉŸ่ƒฝใฎไฝŽไธ‹ใฎ็จ‹ๅบฆใ‚„้€Ÿๅบฆใซใคใ„ใฆใฎไธ–็•Œๆจ™ๆบ–ใฎ่จบๆ–ญๅŸบๆบ–ใฏ๏ผŒใ“ใ‚Œใพใง็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ‹ใฃใŸใ€‚ใใฎใŸใ‚๏ผŒARFใฎๆญปไบก็Ž‡ใŒๆธ›ๅฐ‘ใ›ใš๏ผŒ50%ไปฅไธŠใฎ็Šถๆ…‹ใŒ็ถšใ„ใฆใ„ใŸใ€‚ARFใฎ้ซ˜ใ„ๆญปไบก็Ž‡ใ‚’ๆ”นๅ–„ใ™ใ‚‹ใŸใ‚ใซใฏ๏ผŒ่จบๆ–ญๅŸบๆบ–ใ‚’ไธ–็•Œ็š„ใซ็ตฑไธ€ใ—๏ผŒใ‚จใƒ“ใƒ‡ใƒณใ‚นใ‚’ๅ…ฑๆœ‰ใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใŸใ€‚ใพใŸ๏ผŒๅพ“ๆฅ่‡จๅบŠไธŠใปใจใ‚“ใฉๅ•้กŒ่ฆ–ใ•ใ‚Œใชใ‹ใฃใŸใ‚ใšใ‹ใช่ก€ๆธ…Crๅ€คใฎไธŠๆ˜‡ใŒ๏ผŒๆ‚ฃ่€…ใฎๆญปไบกใซๅคงใใๅฏ„ไธŽใ™ใ‚‹ใ“ใจใŒใƒกใ‚ฟใ‚ขใƒŠใƒชใ‚ทใ‚นใงใ‚‚ๆคœ่จผใ•ใ‚Œ๏ผŒใ“ใ‚ŒใพใงARFใซ้™ฅใฃใฆใ‹ใ‚‰่ก€ๆถฒๆต„ๅŒ–็™‚ๆณ•ใ‚’่กŒใ†ๅฏพ่ฑกใ‚’๏ผŒ็”Ÿๅ‘ฝไบˆๅพŒใซ็›ดๆŽฅๅฝฑ้Ÿฟใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใจใ—ใฆ๏ผŒใ‚ˆใ‚Šๆ—ฉๆœŸใ‚ใ‚‹ใ„ใฏ่ปฝ็—‡ใฎๆฎต้šŽใ‹ใ‚‰๏ผŒ็ฉๆฅต็š„ใซ่จบๆ–ญใƒปๆฒป็™‚ไป‹ๅ…ฅใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใจใชใ‚Š๏ผŒๅพ“ๆฅใฎARFใ‹ใ‚‰ๆ€ฅๆ€ง่…Ž้šœๅฎณ(acute kidney injury:AKI)ใธ๏ผŒใ‚ˆใ‚ŠๅŒ…ๆ‹ฌ็š„ใซๆ€ฅๆฟ€ใช่…ŽๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ใใŸใ™็—…ๆ…‹ใŒๆๅ”ฑใ•ใ‚Œใ‚‹ใซ่‡ณใฃใŸใ€‚ใ€€ใ—ใ‹ใ—๏ผŒๅฐๅ…AKIใฎๆญปไบก็Ž‡ใฏ๏ผŒ่ฟ‘ๅนดใฎ่…Žไปฃๆ›ฟ็™‚ๆณ•ใฎ้€ฒๆญฉใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ35๏ฝž73%ใจไธ่‰ฏใงใ‚ใ‚‹ใ€‚็‰นใซ๏ผŒๆ•—่ก€็—‡ๅˆไฝตไพ‹๏ผŒๅฟƒ็–พๆ‚ฃๆ‰‹่ก“ไพ‹๏ผŒๆ‚ชๆ€ง่…ซ็˜ๅˆไฝตไพ‹๏ผŒใใ—ใฆๅคš่‡“ๅ™จไธๅ…จไพ‹ใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸ๏ผŒAKIใ‹ใ‚‰ๅ›žๅพฉใ—ใฆใ‚‚CKDใซ็งป่กŒใ™ใ‚‹็ขบ็Ž‡ใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ๆ€ๆ˜ฅๆœŸใพใงใฎๅ ฑๅ‘Šใง40๏ฝž60%ใซ้”ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200149" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic renal failure due to acute tubular necrosis or renal ischemias"@en, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Chronic renal failure due to acute tubular necrosis or renal ischemias"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใใ‚…ใ†ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใˆใ—ใพใŸใฏใ˜ใ‚“ใใ‚‡ใ‘ใคใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Chronic renal failure due to acute tubular necrosis or renal ischaemias"@en ; skos:prefLabel "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใพใŸใฏ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200150 - :hasNotificationNumber "45" ; - terms:identifier "2200150" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:2200150" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic renal failure due to acute tubular necrosis"@en, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Chronic renal failure due to acute tubular necrosis"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใใ‚…ใ†ใ›ใ„ใซใ‚‡ใ†ใ•ใ„ใ‹ใ‚“ใˆใ—ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆๆ€ฅๆ€งๅฐฟ็ดฐ็ฎกๅฃŠๆญปใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200151 - :hasNotificationNumber "45" ; - terms:identifier "2200151" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:2200151" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic renal failure due to renal ischemias"@en, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Chronic renal failure due to renal ischemias"@en, "ใพใ‚“ใ›ใ„ใ˜ใ‚“ใตใœใ‚“๏ผˆใ˜ใ‚“ใใ‚‡ใ‘ใคใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Chronic renal failure due to renal ischaemias"@en ; skos:prefLabel "ๆ…ขๆ€ง่…Žไธๅ…จ๏ผˆ่…Ž่™š่ก€ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200152 - :hasNotificationNumber "8" ; - terms:description "่…Žใฎ็•ฐๅฝขๆˆใ‚’ไผดใ‚ใชใ„ไธกๅดๆ€งใณใพใ‚“ๆ€งๅšข่ƒžๅฝขๆˆใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง่…Ž็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผˆADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผˆARPKD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใฉใกใ‚‰ใ‚‚็–พๆ‚ฃ่‡ชไฝ“ใซๅฏพใ™ใ‚‹ๆฒป็™‚ๆณ•ใฏใชใ๏ผŒ่…Žไธๅ…จใฎๆฒป็™‚ใ‚„ๅˆไฝต็—‡ๆฒป็™‚๏ผŒๅฏพ็—‡็™‚ๆณ•ใŒไธปไฝ“ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200152" ; - terms:source ; - a owl:Class ; - rdfs:label "Polycystic kidney disease"@en, "ๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "PKD"@en ; - skos:closeMatch mondo:MONDO_0020642 ; + + nando:hasNotificationNumber "10" ; + dcterms:description "่…Žใฎ็•ฐๅฝขๆˆใ‚’ไผดใ‚ใชใ„ไธกๅดๆ€งใณใพใ‚“ๆ€งๅšข่ƒžๅฝขๆˆใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง่…Ž็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅž‹๏ผˆADPKD๏ผ‰ใจๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅž‹๏ผˆARPKD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใฉใกใ‚‰ใ‚‚็–พๆ‚ฃ่‡ชไฝ“ใซๅฏพใ™ใ‚‹ๆฒป็™‚ๆณ•ใฏใชใ๏ผŒ่…Žไธๅ…จใฎๆฒป็™‚ใ‚„ๅˆไฝต็—‡ๆฒป็™‚๏ผŒๅฏพ็—‡็™‚ๆณ•ใŒไธปไฝ“ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200152" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Polycystic kidney disease"@en, "ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“"@ja-Hira, "ๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PKD"@en, "Polycystic kidney"@en ; + skos:closeMatch obo:MONDO_0020642 ; skos:prefLabel "ๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja . -:2200153 - :hasNotificationNumber "9" ; - terms:identifier "2200153" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200153" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autosomal dominant PKD"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคšๅšข่ƒž่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ADPKD"@en ; - skos:closeMatch mondo:MONDO_0004691 ; - skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคšๅšข่ƒž่…Ž"@ja . - -:2200154 - :hasNotificationNumber "6" ; - terms:identifier "2200154" ; - terms:source ; - a owl:Class ; - rdfs:label "Autosomal recessive PKD"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคšๅšข่ƒž่…Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ARPKD"@en ; - skos:closeMatch mondo:MONDO_0009889 ; - skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคšๅšข่ƒž่…Ž"@ja . - -:2200155 - :hasNotificationNumber "10" ; - terms:description "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚"@ja ; - terms:identifier "2200155" ; - terms:source ; - a owl:Class ; - rdfs:label "Hypoplastic kidney"@en, "ไฝŽๅฝขๆˆ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Autosomal dominant polycystic kidney disease"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ADPKD"@en, "Autosomal dominant PKD"@en ; + skos:closeMatch obo:MONDO_0004691 ; + skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200154" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autosomal recessive polycystic kidney disease"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใŸใฏใคใ›ใ„ใฎใ†ใปใ†ใ˜ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ARPKD"@en, "Autosomal recessive PKD"@en ; + skos:closeMatch obo:MONDO_0009889 ; + skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅคš็™บๆ€งๅšข่ƒž่…Ž"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:description "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200155" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypoplastic kidney"@en, "ใฆใ„ใ‘ใ„ใ›ใ„ใ˜ใ‚“"@ja-Hira, "ไฝŽๅฝขๆˆ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019637 ; skos:prefLabel "ไฝŽๅฝขๆˆ่…Ž"@ja . -:2200156 - :hasNotificationNumber "7" ; - terms:description "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž(multicystic dysplastic kidney๏ผšMCDK)ใฏ๏ผŒๅšข่ƒžๅฝขๆˆใ‚’ไธปไฝ“ใจใ™ใ‚‹็•ฐๅฝขๆˆ่…Žใงใ‚ใ‚‹ใ€‚็•ฐๅฝขๆˆ่…Žใจใฏ๏ผŒๅพŒ่…Ž้–“่‘‰็ต„็น”ใ‚„ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅŒ–ใŒ็•ฐๅธธใงไธๅฎŒๅ…จใชใ‚‚ใฎใ‚’ๆŒ‡ใ—๏ผŒ็ทš็ถญ็ญ‹็ต„็น”ใŒprimitive duct (ๅŽŸๅง‹้›†ๅˆ็ฎก)ใ‚’ๅ–ใ‚Šๅทปใใจใ„ใ†๏ผŒ็‰นๅพด็š„ใช็ต„็น”ๅƒใซๅŸบใฅใ„ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚MCDKใงใฏ๏ผŒๅคงๅฐๆง˜ใ€…ใชๅšข่ƒžใŒๅคšๆ•ฐๅญ˜ๅœจใ—๏ผŒๅšข่ƒž้–“ใซ็•ฐๅฝขๆˆ็ต„็น”ใŒใ‚ใšใ‹ใซไป‹ๅœจใ™ใ‚‹ใฎใฟใง๏ผŒๅŸบๆœฌ็š„ใซ็„กๆฉŸ่ƒฝ่…Žใงใ‚ใ‚‹(1)ใ€‚ๆญฃๅธธใช่…Ž็›‚ใฏๅฝขๆˆใ•ใ‚Œใš๏ผŒๅฐฟ็ฎกใ‚‚่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‹้–‰ๅกžใ—ใฆใ„ใ‚‹ใ€‚ๅšข่ƒžใฏ่‡ช็„ถใซ้€€็ธฎใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้€šๅธธ็‰‡ๅดๆ€งใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใŒ๏ผŒไธกๅดๆ€งใซใ‚‚็”Ÿใ˜๏ผŒใใฎๅ ดๅˆPotter็—‡ๅ€™็พคใจใชใ‚Š่‡ดๆญป็š„ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ใ‚จใ‚ณใƒผใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ไพ‹ใŒๅคšใ๏ผŒ้ ปๅบฆใฏๅ‡บ็”Ÿ4300ไพ‹ใซ1ไพ‹ใจๅ…ˆๅคฉๆ€ง่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใฎไธญใงใฏ้ ปๅบฆใŒ้ซ˜ใ„(2)ใ€‚ๅทฆๅดใซๅคšใ๏ผŒ็”ทๅ…ใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๅคงใใชๅทฎใฏใชใ„ใ€‚"@ja ; - terms:identifier "2200156" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใฎไฝ•ใ‚‰ใ‹ใฎ่ฆๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŒไธ€ๅดใพใŸใฏไธกๅดใฎ่…Ž็ต„็น”ใ‚’่ชใ‚ใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚็‰‡ๅด็„กๅฝขๆˆใฏใŠใ‚ˆใๅ‡บ็”Ÿ1000ใซๅฏพใ—ไธ€ไบบใฎๅ‰ฒๅˆใงใ€ๆฐ—ใฅใ‹ใšใซๅนผใƒปๅฐ‘ๅ…ๆœŸใ€ใ•ใ‚‰ใซๆˆไบบใซใชใฃใฆใ‚‚็Ÿฅใ‚‰ใšใซ้Žใ”ใ™ใ“ใจใ‚‚ใ‚ใ‚‹."@ja ; + dcterms:identifier "NANDO:2200156" ; + dcterms:source ; a owl:Class ; - rdfs:label "Renal aplasia"@en, "่…Ž็„กๅฝขๆˆ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018470, mondo:MONDO_0024519 ; + rdfs:label "Renal aplasia"@en, "ใ˜ใ‚“ใ‚€ใ‘ใ„ใ›ใ„"@ja-Hira, "่…Ž็„กๅฝขๆˆ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018470 ; skos:prefLabel "่…Ž็„กๅฝขๆˆ"@ja . -:2200157 - :hasNotificationNumber "5" ; - terms:description "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "2200157" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค๏ผˆPotter sequence๏ผ‰ใจใฏ๏ผŒไธกๅดใฎ่…Ž็„กๅฝขๆ€งใ‚„ๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Š็พŠๆฐด้Žๅฐ‘ใ‚’ใใŸใ—๏ผŒ่‚บไฝŽๅฝขๆˆใ‚„ๅ››่‚ขๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚1946ๅนด๏ผŒPotterใŒ 20ไพ‹ใฎ่‚บใฎไฝŽๅฝขๆˆ๏ผŒ็„ก่„ณ็—‡ใ‚’ไผดใ†่…Ž็„กๅฝขๆˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸ(1, 2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200157" ; + dcterms:source ; a owl:Class ; - rdfs:label "Potter syndrome"@en, "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Potter syndrome"@en, "ใฝใฃใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Potter sequence"@en, "Potter็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0001558 ; + skos:closeMatch obo:MONDO_0001558 ; skos:prefLabel "ใƒใƒƒใ‚ฟใƒผ็—‡ๅ€™็พค"@ja . -:2200158 - :hasNotificationNumber "5" ; - terms:description "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "2200158" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž(multicystic dysplastic kidney๏ผšMCDK)ใฏ๏ผŒๅšข่ƒžๅฝขๆˆใ‚’ไธปไฝ“ใจใ™ใ‚‹็•ฐๅฝขๆˆ่…Žใงใ‚ใ‚‹ใ€‚็•ฐๅฝขๆˆ่…Žใจใฏ๏ผŒๅพŒ่…Ž้–“่‘‰็ต„็น”ใ‚„ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅŒ–ใŒ็•ฐๅธธใงไธๅฎŒๅ…จใชใ‚‚ใฎใ‚’ๆŒ‡ใ—๏ผŒ็ทš็ถญ็ญ‹็ต„็น”ใŒprimitive duct (ๅŽŸๅง‹้›†ๅˆ็ฎก)ใ‚’ๅ–ใ‚Šๅทปใใจใ„ใ†๏ผŒ็‰นๅพด็š„ใช็ต„็น”ๅƒใซๅŸบใฅใ„ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚MCDKใงใฏ๏ผŒๅคงๅฐๆง˜ใ€…ใชๅšข่ƒžใŒๅคšๆ•ฐๅญ˜ๅœจใ—๏ผŒๅšข่ƒž้–“ใซ็•ฐๅฝขๆˆ็ต„็น”ใŒใ‚ใšใ‹ใซไป‹ๅœจใ™ใ‚‹ใฎใฟใง๏ผŒๅŸบๆœฌ็š„ใซ็„กๆฉŸ่ƒฝ่…Žใงใ‚ใ‚‹(1)ใ€‚ๆญฃๅธธใช่…Ž็›‚ใฏๅฝขๆˆใ•ใ‚Œใš๏ผŒๅฐฟ็ฎกใ‚‚่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‹้–‰ๅกžใ—ใฆใ„ใ‚‹ใ€‚ๅšข่ƒžใฏ่‡ช็„ถใซ้€€็ธฎใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้€šๅธธ็‰‡ๅดๆ€งใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใŒ๏ผŒไธกๅดๆ€งใซใ‚‚็”Ÿใ˜๏ผŒใใฎๅ ดๅˆPotter็—‡ๅ€™็พคใจใชใ‚Š่‡ดๆญป็š„ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ใ‚จใ‚ณใƒผใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ไพ‹ใŒๅคšใ๏ผŒ้ ปๅบฆใฏๅ‡บ็”Ÿ4300ไพ‹ใซ1ไพ‹ใจๅ…ˆๅคฉๆ€ง่…Žๅฐฟ่ทฏๅฅ‡ๅฝขใฎไธญใงใฏ้ ปๅบฆใŒ้ซ˜ใ„(2)ใ€‚ๅทฆๅดใซๅคšใ๏ผŒ็”ทๅ…ใซๅคšใ„ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๅคงใใชๅทฎใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200158" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multicystic dysplastic kidney"@en, "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Multicystic dysplastic kidney"@en, "ใŸใฎใ†ใปใ†ใ›ใ„ใ„ใ‘ใ„ใ›ใ„ใ˜ใ‚“"@ja-Hira, "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "MCDK"@en ; - skos:closeMatch mondo:MONDO_0015988 ; + skos:closeMatch obo:MONDO_0015988 ; skos:prefLabel "ๅคšๅšข่ƒžๆ€ง็•ฐๅฝขๆˆ่…Ž"@ja . -:2200159 - :hasNotificationNumber "5" ; - terms:description "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "2200159" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡่…Žใฏ๏ผŒไฝŽๅฝขๆˆ่…Ž๏ผŒใ™ใชใ‚ใก่…Žใฎ็™บ็”Ÿ้Ž็จ‹ใง๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅฐฟ็ฎก่Šฝใฎๅˆ†ๅฒ็•ฐๅธธใซใ‚ˆใ‚Š๏ผŒ็ต„็น”ๅญฆ็š„ใซใฏๆญฃๅธธใชใƒใƒ•ใƒญใƒณใ‚’ๆœ‰ใ™ใ‚‹ใŒใƒใƒ•ใƒญใƒณใฎๆ•ฐใŒๅฐ‘ใชใ„ๅ…ˆๅคฉ็š„ใช็Ÿฎๅฐ่…Žใฎใ†ใก๏ผŒ่…Žๆฏใฎๆ•ฐใ‚‚ๅฐ‘ใชใ๏ผŒใƒใƒ•ใƒญใƒณใฎๅˆ†ๅธƒใŒ็–Žใง๏ผŒ็ณธ็ƒไฝ“ใŒๆญฃๅธธใฎ2ๅ€ไปฅไธŠใซใ‚‚ๅŠใถ่‚ฅๅคงใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’่จ€ใ†ใ€‚ไฝŽๅฝขๆˆ่…Žใฎ1็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200159" ; + dcterms:source ; a owl:Class ; - rdfs:label "Oligomeganephronia"@en, "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016407 ; + rdfs:label "Oligomeganephronia"@en, "ใ‹ใใ‚‡ใ ใ„ใ—ใใ‚…ใ†ใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016407 ; skos:prefLabel "ๅฏกๅทจๅคง็ณธ็ƒไฝ“็—‡"@ja . -:2200160 - :hasNotificationNumber "11" ; - terms:description "่…Žๅฅ‡ๅฝขใฏ้บไผๆ€ง๏ผŒ้ž้บไผๆ€งใซ่…Žใฎ็™บ็”Ÿๆฎต้šŽใง็”Ÿใ˜ใ‚‹็•ฐๅธธใงใ‚ใ‚Šไปฅไธ‹ใฎใ‚ˆใ†ใชใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200160" ; - terms:source ; - a owl:Class ; - rdfs:label "36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข"@ja, "Other renal malformations"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "36ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข"@ja . - -:2200161 - :hasNotificationNumber "11" ; - terms:identifier "2200161" ; - terms:source ; - a owl:Class ; - rdfs:label "renal dysplasia"@en, "่…Ž็•ฐๅฝขๆˆ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019638 ; + + nando:hasNotificationNumber "13" ; + dcterms:description "่…Žๅฅ‡ๅฝขใฏ้บไผๆ€ง๏ผŒ้ž้บไผๆ€งใซ่…Žใฎ็™บ็”Ÿๆฎต้šŽใง็”Ÿใ˜ใ‚‹็•ฐๅธธใงใ‚ใ‚Šไปฅไธ‹ใฎใ‚ˆใ†ใชใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200160" ; + dcterms:source ; + a owl:Class ; + rdfs:label "38ใ‹ใ‚‰44ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚“ใใ‘ใ„"@ja-Hira, "38ใ‹ใ‚‰44ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข"@ja, "Other renal malformations"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "38ใ‹ใ‚‰44ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่…Žๅฅ‡ๅฝข"@ja . + + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200161" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Renal dysplasia"@en, "ใ˜ใ‚“ใ„ใ‘ใ„ใ›ใ„"@ja-Hira, "่…Ž็•ฐๅฝขๆˆ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019638 ; skos:prefLabel "่…Ž็•ฐๅฝขๆˆ"@ja . -:2200162 - :hasNotificationNumber "11" ; - terms:identifier "2200162" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200162" ; + dcterms:source ; a owl:Class ; - rdfs:label "Supernumerary kidney"@en, "้Žๅ‰ฐ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Supernumerary kidney"@en, "ใ‹ใ˜ใ‚‡ใ†ใ˜ใ‚“"@ja-Hira, "้Žๅ‰ฐ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "้Žๅ‰ฐ่…Ž"@ja . -:2200163 - :hasNotificationNumber "11" ; - terms:identifier "2200163" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200163" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pelvic kidney"@en, "้ชจ็›ค่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Pelvic kidney"@en, "ใ“ใคใฐใ‚“ใ˜ใ‚“"@ja-Hira, "้ชจ็›ค่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "Ectopic pelvic kidney"@en ; skos:prefLabel "้ชจ็›ค่…Ž"@ja . -:2200164 - :hasNotificationNumber "11" ; - terms:identifier "2200164" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200164" ; + dcterms:source ; a owl:Class ; - rdfs:label "crossed renal ectopia without fusion"@en, "ไบคๅทฎๆ€งๅค‰ไฝ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "้ž่žๅˆๆ€งไบคๅ‰ๆ€ง่…Žๅค‰ไฝ"@ja ; + rdfs:label "Crossed renal ectopia"@en, "ใ“ใ†ใ•ใ›ใ„ใธใ‚“ใ„ใ˜ใ‚“"@ja-Hira, "ไบคๅทฎๆ€งๅค‰ไฝ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Crossed renal ectopia without fusion"@en, "้ž่žๅˆๆ€งไบคๅ‰ๆ€ง่…Žๅค‰ไฝ"@ja ; skos:prefLabel "ไบคๅทฎๆ€งๅค‰ไฝ่…Ž"@ja . -:2200165 - :hasNotificationNumber "11" ; - terms:identifier "2200165" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200165" ; + dcterms:source ; a owl:Class ; - rdfs:label "lumber ectopic kidney"@en, "่…ฐ้ƒจๅค‰ไฝ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "lumber kidney "@en ; + rdfs:label "Lumber ectopic kidney"@en, "ใ‚ˆใ†ใถใธใ‚“ใ„ใ˜ใ‚“"@ja-Hira, "่…ฐ้ƒจๅค‰ไฝ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่…ฐ้ƒจๅค‰ไฝ่…Ž"@ja . -:2200166 - :hasNotificationNumber "11" ; - terms:identifier "2200166" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200166" ; + dcterms:source ; a owl:Class ; - rdfs:label "throacic kidney"@en, "่ƒธ้ƒจ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Throacic kidney"@en, "ใใ‚‡ใ†ใถใ˜ใ‚“"@ja-Hira, "่ƒธ้ƒจ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่ƒธ้ƒจ่…Ž"@ja . -:2200167 - :hasNotificationNumber "11" ; - terms:identifier "2200167" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200167" ; + dcterms:source ; a owl:Class ; - rdfs:label "crossed fused kidney"@en, "ไบคๅทฎๆ€ง่žๅˆ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Crossed fused kidney"@en, "ใ“ใ†ใ•ใ›ใ„ใ‚†ใ†ใ”ใ†ใ˜ใ‚“"@ja-Hira, "ไบคๅทฎๆ€ง่žๅˆ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ไบคๅทฎๆ€ง่žๅˆ่…Ž"@ja . -:2200168 - :hasNotificationNumber "11" ; - terms:identifier "2200168" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200168" ; + dcterms:source ; a owl:Class ; - rdfs:label "fused pelvic kidney"@en, "้ชจ็›ค้ƒจ่žๅˆ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Fused pelvic kidney"@en, "ใ“ใคใฐใ‚“ใถใ‚†ใ†ใ”ใ†ใ˜ใ‚“"@ja-Hira, "้ชจ็›ค้ƒจ่žๅˆ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "้ชจ็›ค้ƒจ่žๅˆ่…Ž"@ja . -:2200169 - :hasNotificationNumber "11" ; - terms:identifier "2200169" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200169" ; + dcterms:source ; a owl:Class ; - rdfs:label "horseshoe kidney"@en, "้ฆฌ่น„่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Horseshoe kidney"@en, "ใฐใฆใ„ใ˜ใ‚“"@ja-Hira, "้ฆฌ่น„่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "้ฆฌ่น„่…Ž"@ja . -:2200170 - :hasNotificationNumber "11" ; - terms:identifier "2200170" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200170" ; + dcterms:source ; a owl:Class ; - rdfs:label "medullary cystic kidney disease"@en, "้ซ„่ณชๅšข่ƒž่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Medullary cystic kidney"@en, "ใšใ„ใ—ใคใฎใ†ใปใ†ใ˜ใ‚“"@ja-Hira, "้ซ„่ณชๅšข่ƒž่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "้ซ„่ณชๆ€งๅšข่ƒž่…Ž"@ja ; - skos:closeMatch mondo:MONDO_0008264, mondo:MONDO_0019005 ; + skos:closeMatch obo:MONDO_0019005 ; skos:prefLabel "้ซ„่ณชๅšข่ƒž่…Ž"@ja . -:2200171 - :hasNotificationNumber "11" ; - terms:identifier "2200171" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200171" ; + dcterms:source ; a owl:Class ; - rdfs:label "multilocular cysts of the kidney"@en, "ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Multilocular cysts of the kidney"@en, "ใŸใผใ†ใ›ใ„ใ˜ใ‚“ใฎใ†ใปใ†"@ja-Hira, "ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Multilocular renal cyst"@en ; + skos:closeMatch obo:MONDO_0019983 ; skos:prefLabel "ๅคšๆˆฟๆ€ง่…Žๅšข่ƒž"@ja . -:2200172 - :hasNotificationNumber "11" ; - terms:identifier "2200172" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200172" ; + dcterms:source ; a owl:Class ; - rdfs:label "simple renal cyst"@en, "ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Simple renal cyst"@en, "ใŸใ‚“ใ˜ใ‚…ใ‚“ใ›ใ„ใ˜ใ‚“ใฎใ†ใปใ†"@ja-Hira, "ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002473 ; skos:prefLabel "ๅ˜็ด”ๆ€ง่…Žๅšข่ƒž"@ja . -:2200173 - :hasNotificationNumber "11" ; - terms:identifier "2200173" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200173" ; + dcterms:source ; a owl:Class ; - rdfs:label "Medullary Sponge Kidney"@en, "้ซ„่ณชๆตท็ถฟ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015268 ; + rdfs:label "Medullary sponge kidney"@en, "ใšใ„ใ—ใคใ‹ใ„ใ‚ใ‚“ใ˜ใ‚“"@ja-Hira, "้ซ„่ณชๆตท็ถฟ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "MSK"@en ; + skos:closeMatch obo:MONDO_0015268 ; skos:prefLabel "้ซ„่ณชๆตท็ถฟ่…Ž"@ja . -:2200174 - :hasNotificationNumber "11" ; - terms:identifier "2200174" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200174" ; + dcterms:source ; a owl:Class ; - rdfs:label "acquired cystic disease of the kidney"@en, "ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Acquired cystic disease of the kidney"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใ˜ใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "ๅคšๅšข่ƒžๅŒ–่Ž็ธฎ่…Ž "@ja ; skos:prefLabel "ๅพŒๅคฉๆ€งๅšข่ƒžๆ€ง่…Ž็–พๆ‚ฃ"@ja . -:2200175 - :hasNotificationNumber "11" ; - terms:identifier "2200175" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200175" ; + dcterms:source ; a owl:Class ; - rdfs:label "calyceal diverticulum"@en, "่…Žๆฏๆ†ฉๅฎค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Calyceal diverticulum"@en, "ใ˜ใ‚“ใฑใ„ใ‘ใ„ใ—ใค"@ja-Hira, "่…Žๆฏๆ†ฉๅฎค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่…Žๆฏๆ†ฉๅฎค"@ja . -:2200176 - :hasNotificationNumber "11" ; - terms:identifier "2200176" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200176" ; + dcterms:source ; a owl:Class ; - rdfs:label "ureteropelvic junction obstruction"@en, "ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0027676 ; + rdfs:label "Ureteropelvic junction obstruction"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ™ใ„ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Congenital hydronephrosis"@en, "่…Ž็›‚ๅฐฟ็ฎก็งป่กŒ้ƒจ้€š้Ž้šœๅฎณ"@ja ; + skos:closeMatch obo:MONDO_0007741 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆฐด่…Ž็—‡"@ja . -:2200177 - :hasNotificationNumber "11" ; - terms:identifier "2200177" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:identifier "NANDO:2200177" ; + dcterms:source ; a owl:Class ; - rdfs:label "megacalycosis"@en, "ๅทจๅคง่…Žๆฏ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Megacalycosis"@en, "ใใ‚‡ใ ใ„ใ˜ใ‚“ใฑใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅทจๅคง่…Žๆฏ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "ๅทจๅคง่…Žๆฏ"@ja ; + skos:closeMatch obo:MONDO_0019639 ; skos:prefLabel "ๅทจๅคง่…Žๆฏ็—‡"@ja . -:2200178 - :hasNotificationNumber "17" ; - terms:description "ๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๅฐฟ่ทฏ้€š้Ž้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹่…ŽๆฉŸ่ƒฝ้šœๅฎณใ‚’้–‰ๅกžๆ€ง่…Ž็—‡ใจใ„ใ„๏ผŒ้–‰ๅกžๆ€ง่…Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹ไธŠ้ƒจใƒปไธ‹้ƒจๅฐฟ่ทฏใฎ็•ฐๅธธใ‚’้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃใจๅฎš็พฉใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200178" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ๆง˜ใ€…ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๅฐฟ่ทฏ้€š้Ž้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹่…ŽๆฉŸ่ƒฝ้šœๅฎณใ‚’้–‰ๅกžๆ€ง่…Ž็—‡ใจใ„ใ„๏ผŒ้–‰ๅกžๆ€ง่…Ž็—‡ใ‚’็”Ÿใ˜ใ‚‹ไธŠ้ƒจใƒปไธ‹้ƒจๅฐฟ่ทฏใฎ็•ฐๅธธใ‚’้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃใจๅฎš็พฉใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200178" ; + dcterms:source ; a owl:Class ; - rdfs:label "Obstructive uropathy"@en, "้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003330 ; + rdfs:label "Obstructive uropathy"@en, "ใธใ„ใใใ›ใ„ใซใ‚‡ใ†ใ‚ใ—ใฃใ‹ใ‚“"@ja-Hira, "้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003330 ; skos:prefLabel "้–‰ๅกžๆ€งๅฐฟ่ทฏ็–พๆ‚ฃ"@ja . -:2200179 - :hasNotificationNumber "18" ; - terms:description "่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚"@ja ; - terms:identifier "2200179" ; - terms:source ; + + nando:hasNotificationNumber "20" ; + dcterms:description "่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200179" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vesicoureteral reflux"@en, "่†€่ƒฑๅฐฟ็ฎก้€†ๆต"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Vesicoureteral reflux"@en, "ใผใ†ใ“ใ†ใซใ‚‡ใ†ใ‹ใ‚“ใŽใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "่†€่ƒฑๅฐฟ็ฎก้€†ๆต"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "VUR"@en ; - skos:closeMatch mondo:MONDO_0006007, mondo:MONDO_0008653 ; + skos:closeMatch obo:MONDO_0006007 ; skos:prefLabel "่†€่ƒฑๅฐฟ็ฎก้€†ๆต"@ja . -:2200180 - :hasNotificationNumber "18" ; - terms:description "่†€่ƒฑๅฐฟ็ฎก็งป่กŒ้ƒจใฎๅ…ˆๅคฉ็š„ใชๅฝขๆˆไธๅ…จใ‚„ไธ‹้ƒจๅฐฟ่ทฏ้€š้Ž้šœๅฎณใชใฉใซ่ตทๅ› ใ™ใ‚‹้€†ๆต้˜ฒๆญขๆฉŸๆง‹ใฎไบŒๆฌกๆ€งใฎ็ ด็ถปใซใ‚ˆใ‚Š่†€่ƒฑๅ†…ใฎๅฐฟใŒๅฐฟ็ฎกใชใ„ใ—่…ŽๅญŸใซ้€†ๆตใ™ใ‚‹็พ่ฑกใงใ‚ใ‚‹ใ€‚ไธ‹้ƒจๅฐฟ่ทฏๆฉŸ่ƒฝ็•ฐๅธธใ‚„ๆŽ’ไพฟๆฉŸ่ƒฝ็•ฐๅธธใŒไบŒๆฌก็š„ๅ› ๅญใจใ—ใฆ้–ขไธŽใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„(1, 2)ใ€‚"@ja ; - terms:identifier "2200180" ; - terms:source ; - a owl:Class ; - rdfs:label "43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข"@ja, "Other urinary tract malformations"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "43ๅŠใณ44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข"@ja . - -:2200181 - :hasNotificationNumber "18" ; - terms:identifier "2200181" ; - terms:source ; - a owl:Class ; - rdfs:label "duplication of the renal pelvis and ureter"@en, "้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Duplex Collecting System"@en ; + + nando:hasNotificationNumber "21" ; + dcterms:description "ๅฐฟ่ทฏๅฅ‡ๅฝขใฏ๏ผŒ็™บ็”Ÿใฎๆฎต้šŽใง็”Ÿใ˜ใ‚‹ๅฝขๆ…‹๏ผŒไฝ็ฝฎ๏ผŒๆ•ฐใฎ็•ฐๅธธใŒใ‚ใ‚Š๏ผŒไปฅไธ‹ใฎใ‚ˆใ†ใช็–พๆ‚ฃใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚1)ใ€€้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก 2)ใ€€็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก 3)ใ€€ๅฐฟ็ฎก็˜ค 4)ใ€€ๅทจๅคงๅฐฟ็ฎก็—‡5)ใ€€Prune belly็—‡ๅ€™็พค"@ja ; + dcterms:identifier "NANDO:2200180" ; + dcterms:source ; + a owl:Class ; + rdfs:label "46ใŠใ‚ˆใณ47ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใซใ‚‡ใ†ใ‚ใใ‘ใ„"@ja-Hira, "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข"@ja, "Other urinary tract malformations"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฐฟ่ทฏๅฅ‡ๅฝข"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:2200181" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Duplication of the renal pelvis and ureter"@en, "ใ˜ใ‚…ใ†ใตใใ˜ใ‚“ใ†ใซใ‚‡ใ†ใ‹ใ‚“"@ja-Hira, "้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Duplex collecting system"@en ; skos:prefLabel "้‡่ค‡่…Ž็›‚ๅฐฟ็ฎก"@ja . -:2200182 - :hasNotificationNumber "18" ; - terms:identifier "2200182" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:2200182" ; + dcterms:source ; a owl:Class ; - rdfs:label "ectopic ureteral orifice"@en, "็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Ectopic ureteral orifice"@en, "ใ„ใ—ใ‚‡ใ‹ใ„ใ“ใ†ใซใ‚‡ใ†ใ‹ใ‚“"@ja-Hira, "็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Ectopic ureter"@en, "ๅฐฟ็ฎก็•ฐๆ‰€้–‹ๅฃ"@ja ; skos:prefLabel "็•ฐๆ‰€้–‹ๅฃๅฐฟ็ฎก"@ja . -:2200183 - :hasNotificationNumber "18" ; - terms:identifier "2200183" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:2200183" ; + dcterms:source ; a owl:Class ; - rdfs:label "ureteroceles"@en, "ๅฐฟ็ฎก็˜ค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Ureteroceles"@en, "ใซใ‚‡ใ†ใ‹ใ‚“ใ‚Šใ‚…ใ†"@ja-Hira, "ๅฐฟ็ฎก็˜ค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008628 ; skos:prefLabel "ๅฐฟ็ฎก็˜ค"@ja . -:2200184 - :hasNotificationNumber "18" ; - terms:identifier "2200184" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:2200184" ; + dcterms:source ; a owl:Class ; - rdfs:label "Megaureter"@en, "ๅทจๅคงๅฐฟ็ฎก็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Megaureter"@en, "ใใ‚‡ใ ใ„ใซใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅทจๅคงๅฐฟ็ฎก็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018960 ; skos:prefLabel "ๅทจๅคงๅฐฟ็ฎก็—‡"@ja . -:2200185 - :hasNotificationNumber "19" ; - terms:identifier "2200185" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:identifier "NANDO:2200185" ; + dcterms:source ; a owl:Class ; - rdfs:label "Prune belly syndrome"@en, "Prune belly็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007032 ; + rdfs:label "Prune belly syndrome"@en, "Prune belly็—‡ๅ€™็พค"@ja, "ใทใ‚‹ใƒผใ‚“ในใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007032 ; skos:prefLabel "Prune belly็—‡ๅ€™็พค"@ja . -:2200186 - :hasNotificationNumber "2" ; - terms:description "่…Ž่‡“ใŒๆญฃๅธธๆ™‚ใฎๅŠๅˆ†่ฟ‘ใใซ็ธฎๅฐใ—๏ผŒๆฉŸ่ƒฝไธๅ…จใซ้™ฅใฃใŸ็Šถๆ…‹ใ‚’่จ€ใ†ใ€‚ๅคšใใฎ่…Ž็–พๆ‚ฃใฎ็ต‚ๅฑ€ๅƒใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200186" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "่…Ž่‡“ใŒๆญฃๅธธๆ™‚ใฎๅŠๅˆ†่ฟ‘ใใซ็ธฎๅฐใ—๏ผŒๆฉŸ่ƒฝไธๅ…จใซ้™ฅใฃใŸ็Šถๆ…‹ใ‚’่จ€ใ†ใ€‚ๅคšใใฎ่…Ž็–พๆ‚ฃใฎ็ต‚ๅฑ€ๅƒใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200186" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atrophic kidney"@en, "่Ž็ธฎ่…Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Atrophic kidney"@en, "ใ„ใ—ใ‚…ใใ˜ใ‚“"@ja-Hira, "่Ž็ธฎ่…Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "่Ž็ธฎ่…Ž"@ja . -:2200187 - :hasNotificationNumber "28" ; - terms:description "Fanconi็—‡ๅ€™็พคใฏ๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใฎๅ…จ่ˆฌๆ€งๆบถ่ณช่ผธ้€ๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒๆœฌๆฅ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงๅ†ๅธๅŽใ•ใ‚Œใ‚‹็‰ฉ่ณชใŒๅฐฟไธญใธใฎ้Žๅบฆใฎๅ–ชๅคฑใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธ๏ผŒใƒ–ใƒ‰ใ‚ฆ็ณ–๏ผŒ้‡็‚ญ้…ธ็„กๆฉŸใƒชใƒณใชใฉใฎๆบถ่ณชๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใใฎ็ตๆžœใจใ—ใฆไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผŒ้›ป่งฃ่ณช็•ฐๅธธ๏ผŒ่„ฑๆฐด๏ผŒ็™บ้”้šœๅฎณ๏ผŒใใ‚‹็—…ใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200187" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "Fanconi็—‡ๅ€™็พคใฏ๏ผŒ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใฎๅ…จ่ˆฌๆ€งๆบถ่ณช่ผธ้€ๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Š๏ผŒๆœฌๆฅ่ฟ‘ไฝๅฐฟ็ดฐ็ฎกใงๅ†ๅธๅŽใ•ใ‚Œใ‚‹็‰ฉ่ณชใŒๅฐฟไธญใธใฎ้Žๅบฆใฎๅ–ชๅคฑใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธ๏ผŒใƒ–ใƒ‰ใ‚ฆ็ณ–๏ผŒ้‡็‚ญ้…ธ็„กๆฉŸใƒชใƒณใชใฉใฎๆบถ่ณชๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใใฎ็ตๆžœใจใ—ใฆไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น๏ผŒ้›ป่งฃ่ณช็•ฐๅธธ๏ผŒ่„ฑๆฐด๏ผŒ็™บ้”้šœๅฎณ๏ผŒใใ‚‹็—…ใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200187" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fanconi syndrome"@en, "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Fanconi syndrome"@en, "ใตใใ‚“ใ“ใƒผใซใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "Fanconi็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0001083 ; + skos:closeMatch obo:MONDO_0001083 ; skos:prefLabel "ใƒ•ใ‚กใƒณใ‚ณใƒผใƒ‹็—‡ๅ€™็พค"@ja . -:2200188 - :hasNotificationNumber "48" ; - terms:description "ๆœฌ็—‡ใฏ็œผ็—‡็Šถ๏ผŒไธญๆžข็ฅž็ตŒ็—‡็Šถ๏ผŒ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธปๅพดใจใ—๏ผŒ1952ๅนดใซLoweใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚่ฟ‘ๅนดใฏ๏ผŒoculocerebrorenal syndrome of Lowe (OCRL)ใ€€(MIM309000)ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็”ทๅ…10ไธ‡ไบบใซๆ•ฐไบบใฎ็™บ็—‡ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๆญฃ็ขบใช็™บ็—‡้ ปๅบฆใ‚„ๆ‚ฃ่€…ๆ•ฐใฏไธๆ˜Žใงใ‚ใ‚‹(2)ใ€‚1982ๅนดใฎๆˆ‘ใŒๅ›ฝใฎๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(RTA)ใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ๏ผŒRTAใฎ็ด„1/3ใŒๆœฌ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ(3)ใ€‚ใพใŸ๏ผŒใพใ‚Œใงใฏใ‚ใ‚‹ใŒ๏ผŒXๆŸ“่‰ฒไฝ“ใจๅธธๆŸ“่‰ฒไฝ“ใฎ้–“ใซใŠใ‘ใ‚‹ๅ‡่กก่ปขๅบงใซใ‚ˆใ‚‹่ปฝ็—‡ๅฅณๅ…ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŸใ‚๏ผŒๅฅณๅ…ใงใ‚ใฃใฆใ‚‚ๆœฌ็—‡ใ‚’้™คๅค–ใ™ในใใงใฏใชใ„ใ€‚"@ja ; - terms:identifier "2200188" ; - terms:source ; - a owl:Class ; - rdfs:label "Lowe syndrome"@en, "ใƒญใ‚ฆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Lowe็—‡ๅ€™็พค"@ja, "oculocerebrorenal syndrome of Lowe"@en ; - skos:closeMatch mondo:MONDO_0010645 ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ๆœฌ็—‡ใฏ็œผ็—‡็Šถ๏ผŒไธญๆžข็ฅž็ตŒ็—‡็Šถ๏ผŒ่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ้šœๅฎณใ‚’ไธปๅพดใจใ—๏ผŒ1952ๅนดใซLoweใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹(1)ใ€‚่ฟ‘ๅนดใฏ๏ผŒoculocerebrorenal syndrome of Lowe (OCRL)ใ€€(MIM309000)ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็”ทๅ…10ไธ‡ไบบใซๆ•ฐไบบใฎ็™บ็—‡ใจใ•ใ‚Œใ‚‹ใŒ๏ผŒๆญฃ็ขบใช็™บ็—‡้ ปๅบฆใ‚„ๆ‚ฃ่€…ๆ•ฐใฏไธๆ˜Žใงใ‚ใ‚‹(2)ใ€‚1982ๅนดใฎๆˆ‘ใŒๅ›ฝใฎๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น(RTA)ใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ๏ผŒRTAใฎ็ด„1/3ใŒๆœฌ็—‡ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ(3)ใ€‚ใพใŸ๏ผŒใพใ‚Œใงใฏใ‚ใ‚‹ใŒ๏ผŒXๆŸ“่‰ฒไฝ“ใจๅธธๆŸ“่‰ฒไฝ“ใฎ้–“ใซใŠใ‘ใ‚‹ๅ‡่กก่ปขๅบงใซใ‚ˆใ‚‹่ปฝ็—‡ๅฅณๅ…ไพ‹ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŸใ‚๏ผŒๅฅณๅ…ใงใ‚ใฃใฆใ‚‚ๆœฌ็—‡ใ‚’้™คๅค–ใ™ในใใงใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200188" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lowe syndrome"@en, "ใ‚ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒญใ‚ฆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Lowe็—‡ๅ€™็พค"@ja, "OCRL"@en, "Oculocerebrorenal syndrome of Lowe"@en ; + skos:closeMatch obo:MONDO_0010645 ; skos:prefLabel "ใƒญใ‚ฆ็—‡ๅ€™็พค"@ja . -:2200189 - :hasNotificationNumber "6" ; - terms:identifier "2200189" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:identifier "NANDO:2200189" ; + dcterms:source ; a owl:Class ; - rdfs:label "airway obstruction and stenosis"@en, "ๆฐ—้“็‹ญ็ช„"@ja ; + rdfs:label "Airway obstruction and stenosis"@en, "ใใฉใ†ใใ‚‡ใ†ใ•ใ"@ja-Hira, "ๆฐ—้“็‹ญ็ช„"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๆฐ—้“็‹ญ็ช„"@ja . -:2200190 - :hasNotificationNumber "6" ; - terms:description "ๅ’ฝ้ ญ็‹ญ็ช„ใฏใ€ๅ’ฝ้ ญ่…”ใŒๅŒๅนด้ฝขใฎๆญฃๅธธๅ…ใซๆฏ”ในใฆๆ˜Žใ‚‰ใ‹ใซ็‹ญใใ€ใ‹ใคใใ‚Œใซ่ตทๅ› ใ™ใ‚‹็—‡็Šถใ‚’ๆœ‰ใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚็‹ญ็ช„ใซใฏๅ›บๅฎšๆ€งใฎใ‚‚ใฎใจๅค‰ๅ‹•ๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200190" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅ’ฝ้ ญ็‹ญ็ช„ใฏใ€ๅ’ฝ้ ญ่…”ใŒๅŒๅนด้ฝขใฎๆญฃๅธธๅ…ใซๆฏ”ในใฆๆ˜Žใ‚‰ใ‹ใซ็‹ญใใ€ใ‹ใคใใ‚Œใซ่ตทๅ› ใ™ใ‚‹็—‡็Šถใ‚’ๆœ‰ใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚็‹ญ็ช„ใซใฏๅ›บๅฎšๆ€งใฎใ‚‚ใฎใจๅค‰ๅ‹•ๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200190" ; + dcterms:source ; a owl:Class ; - rdfs:label "laryngeal stenosis"@en, "ๅ–‰้ ญ็‹ญ็ช„"@ja ; + rdfs:label "Laryngeal stenosis"@en, "ใ“ใ†ใจใ†ใใ‚‡ใ†ใ•ใ"@ja-Hira, "ๅ–‰้ ญ็‹ญ็ช„"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007879, obo:MONDO_0015395 ; skos:prefLabel "ๅ–‰้ ญ็‹ญ็ช„"@ja . -:2200191 - :hasNotificationNumber "6" ; - terms:description "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚"@ja ; - terms:identifier "2200191" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200191" ; + dcterms:source ; a owl:Class ; - rdfs:label "supraglottic stenosis"@en, "ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Supraglottic stenosis"@en, "ใ›ใ„ใ‚‚ใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅฃฐ้–€ไธŠ็‹ญ็ช„็—‡"@ja . -:2200192 - :hasNotificationNumber "6" ; - terms:description "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚"@ja ; - terms:identifier "2200192" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200192" ; + dcterms:source ; a owl:Class ; - rdfs:label "glottic stenosis"@en, "ๅฃฐ้–€็‹ญ็ช„็—‡"@ja ; + rdfs:label "Glottic stenosis"@en, "ใ›ใ„ใ‚‚ใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅฃฐ้–€็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅฃฐ้–€็‹ญ็ช„็—‡"@ja . -:2200193 - :hasNotificationNumber "6" ; - terms:description "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚"@ja ; - terms:identifier "2200193" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅ–‰้ ญใฎ็‹ญ็ช„็—‡ใซใฏๆง˜ใ€…ใชใ‚‚ใฎใŒๅซใพใ‚Œใ‚‹ใŒใ€ๅฃฐๅธฏๅ‘จๅ›ฒใฎ็—…ๅค‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚ใใฎไธญใงใ‚‚ๅฃฐ้–€ไธ‹่…”ใฏๅฐๅ…ใฎๅ–‰้ ญใƒปๆฐ—็ฎกใฎไธญใงๆœ€ใ‚‚็‹ญใ„้ƒจๅˆ†ใ‚’ๅฝขๆˆใ™ใ‚‹ใŸใ‚ใ€็‹ญ็ช„็—‡ใ‚’ๆฅใ—ใ‚„ใ™ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200193" ; + dcterms:source ; a owl:Class ; - rdfs:label "subglottic stenosis"@en, "ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja ; + rdfs:label "Subglottic stenosis"@en, "ใ›ใ„ใ‚‚ใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅฃฐ้–€ไธ‹็‹ญ็ช„็—‡"@ja . -:2200194 - :hasNotificationNumber "6" ; - terms:description "ๅฐๅ…ใฎๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅฃฐ้–€๏ผ‰ใจ็‹ญ็พฉใฎๆฐ—้“๏ผˆๅฃฐ้–€ไธ‹่…”ใ€ๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ—ๅค–็ง‘็š„ๆฒป็™‚ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏไธปใซ็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๆฐ—็ฎก็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใงใ‚ใ‚Šใ€ๅคšใใŒ็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใปใจใ‚“ใฉใŒๅ…ˆๅคฉๆ€งใฎ็‹ญ็ช„ใงใ‚ใ‚Šใ€ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎๅพŒๅคฉๆ€งใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ใพใ‚Œใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200194" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅฐๅ…ใฎๆฐ—้“ใฏไธŠๆฐ—้“๏ผˆ้ผปๅ’ฝ้ ญ่…”ใ‹ใ‚‰ๅฃฐ้–€๏ผ‰ใจ็‹ญ็พฉใฎๆฐ—้“๏ผˆๅฃฐ้–€ไธ‹่…”ใ€ๆฐ—็ฎกใ€ๆฐ—็ฎกๆ”ฏ๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‘ผๅธ้šœๅฎณใ‚’ๆฅใ—ๅค–็ง‘็š„ๆฒป็™‚ใฎๅฏพ่ฑกใจใชใ‚‹ใ‚‚ใฎใฏไธปใซ็‹ญ็ช„ใ‚„้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ€ใใฎไธญใงใ‚‚ๆฐ—็ฎก็‹ญ็ช„็—‡ใŒไปฃ่กจ็š„ใงใ‚ใ‚Šใ€ๅคšใใŒ็ทŠๆ€ฅใฎ่จบๆ–ญใ€ๅ‡ฆ็ฝฎใ€ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใปใจใ‚“ใฉใŒๅ…ˆๅคฉๆ€งใฎ็‹ญ็ช„ใงใ‚ใ‚Šใ€ๅค–ๅ‚ทใ‚„้•ทๆœŸๆŒฟ็ฎกๅพŒใฎๅพŒๅคฉๆ€งใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ใพใ‚Œใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200194" ; + dcterms:source ; a owl:Class ; - rdfs:label "tracheal stenosis"@en, "ๆฐ—็ฎก็‹ญ็ช„"@ja ; + rdfs:label "Tracheal stenosis"@en, "ใใ‹ใ‚“ใใ‚‡ใ†ใ•ใ"@ja-Hira, "ๆฐ—็ฎก็‹ญ็ช„"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002568 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002568 ; skos:prefLabel "ๆฐ—็ฎก็‹ญ็ช„"@ja . -:2200195 - :hasNotificationNumber "6" ; - terms:description "ๆฐ—็ฎก่ปŸๅŒ–็—‡ใฏๆฐ—็ฎกใ‚„ๆฐ—็ฎกๆ”ฏใฎๅ†…่…”ใŒไฟใŸใ‚Œใšใ€่™š่„ฑ๏ผˆๆ‰ๅนณๅŒ–๏ผ‰ใ—ใ€้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200195" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๆฐ—็ฎก่ปŸๅŒ–็—‡ใฏๆฐ—็ฎกใ‚„ๆฐ—็ฎกๆ”ฏใฎๅ†…่…”ใŒไฟใŸใ‚Œใšใ€่™š่„ฑ๏ผˆๆ‰ๅนณๅŒ–๏ผ‰ใ—ใ€้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200195" ; + dcterms:source ; a owl:Class ; - rdfs:label "tracheomalacia"@en, "ๆฐ—็ฎก่ปŸๅŒ–็—‡"@ja ; + rdfs:label "Tracheomalacia"@en, "ใใ‹ใ‚“ใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๆฐ—็ฎก่ปŸๅŒ–็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019804 ; + rdfs:subClassOf ; + skos:altLabel "tracheobronchial malacia"@en ; + skos:closeMatch obo:MONDO_0019804 ; skos:prefLabel "ๆฐ—็ฎก่ปŸๅŒ–็—‡"@ja . -:2200196 - :hasNotificationNumber "6" ; - terms:description "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200196" ; - terms:source ; + + dcterms:identifier "NANDO:2200196" ; a owl:Class ; - rdfs:label "bronchial stenosis and bronchomalacia"@en, "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡"@ja . + rdfs:label "obsolete bronchial stenosis and bronchomalacia"@en, "obsolete ใใ‹ใ‚“ใ—ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†ใƒปใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "obsolete ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡"@ja ; + rdfs:subClassOf ; + rdfs:subClassof ; + owl:deprecated true ; + skos:prefLabel "obsolete ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใƒป่ปŸๅŒ–็—‡"@ja . -:2200197 - :hasNotificationNumber "5" ; - terms:description "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใฏใ€็™บไฝœๆ€งใซ่ตทใ“ใ‚‹ๆฐ—้“็‹ญ็ช„ใซใ‚ˆใฃใฆๅ–˜้ณดใ‚„ๅ‘ผๆฐ—ๅปถ้•ทใ€ๅ‘ผๅธๅ›ฐ้›ฃใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใฏ่‡ช็„ถใชใ„ใ—ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ€ๆถˆๅคฑใ™ใ‚‹ใŒใ€ใ”ใ็จ€ใซใฏ่‡ดๆญป็š„ใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆฐ—้“็‹ญ็ช„ใฏใ€ๆฐ—้“ๅนณๆป‘็ญ‹ๅŽ็ธฎใ€ๆฐ—้“็ฒ˜่†œๆตฎ่…ซใ€ๆฐ—้“ๅˆ†ๆณŒไบข้€ฒใ‚’ไธปใชๆˆๅ› ใจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏใ€ๆ…ขๆ€งใฎๆฐ—้“็‚Ž็—‡ใจๆฐ—้“้Žๆ•ๆ€งใงใ‚ใ‚‹ใŒใ€ๆฐ—้“็‚Ž็—‡ใซใฏๅฅฝ้…ธ็ƒใ€ๅฅฝไธญ็ƒใ€ใƒชใƒณใƒ‘็ƒใ€ใƒžใ‚นใƒˆ็ดฐ่ƒžใชใฉใฎ็‚Ž็—‡็ดฐ่ƒžใ€ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใ€็ทš็ถญ่Šฝ็ดฐ่ƒžใ€ๆฐ—้“ๅนณๆป‘็ญ‹ใชใฉใฎๆฐ—้“ๆง‹ๆˆ็ดฐ่ƒžใ€ใŠใ‚ˆใณ็จฎใ€…ใฎๆถฒๆ€งๅ› ๅญใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚‹ๆฐ—้“็‚Ž็—‡ใฏใ€ๆฐ—้“ๅ‚ทๅฎณใจใใ‚Œใซๅผ•ใ็ถšใๆฐ—้“ๆง‹้€ ใฎๅค‰ๅŒ–๏ผˆใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ๏ผ‰ใ‚’ๆƒน่ตทใ—ใฆ้žๅฏ้€†ๆ€งใฎๆฐ—ๆตๅˆถ้™ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€ๆฐ—้“้Žๆ•ๆ€งใ‚’ไบข้€ฒใ•ใ›ใ‚‹ใ€‚ไนณๅ…ๅ–˜ๆฏ๏ผˆ2ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹ๅ–˜ๆฏใจๅฎš็พฉ๏ผ‰ใฎ็—…ๆ…‹ใซใŠใ‘ใ‚‹็‰น็•ฐๆ€งใจใ—ใฆใฏใ€ๅ‘ผๅธๅ™จ็ณปใซใŠใ‘ใ‚‹่งฃๅ‰–ใƒป็”Ÿ็†ๅญฆ็š„็‰นๅพดใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไนณๅนผๅ…ใฏๅนด้•ทๅ…ใซๆฏ”ใ—ๆฐ—้“ๅ†…ๅพ„ใŒ็‹ญใใ€่‚บๅผพๆ€งๅŽ็ธฎๅŠ›ใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆฐ—็ฎกๆ”ฏๅนณๆป‘็ญ‹ใŒๅฐ‘ใชใใ€็ฒ˜ๆถฒๅˆ†ๆณŒ่…บใ‚„ๆฏ็ดฐ่ƒžใŒ้Žๅฝขๆˆใ‚’็คบใ—ใ€ๅดๅ‰ฏๆ›ๆฐ—ใŒๅฐ‘ใชใใ€ๆจช้š”่†œใŒๆฐดๅนณใซไป˜็€ใ—ใฆๅ‘ผๅธ้‹ๅ‹•ใŒๅฐใ•ใ„ใ“ใจใชใฉใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใŒ็”Ÿใ˜ใ‚„ใ™ใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชใ“ใจใ‹ใ‚‰ใ€2ๆญณๆœชๆบ€ใงใฏๅนด้•ทๅ…ใจๆฏ”่ผƒใ—ใฆๆฐ—้“็‹ญ็ช„ใŒๅผทใ็พใ‚Œใ‚„ใ™ใใ€็—‡็Šถใฎ้€ฒ่กŒใŒ้€Ÿใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200197" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใฏใ€็™บไฝœๆ€งใซ่ตทใ“ใ‚‹ๆฐ—้“็‹ญ็ช„ใซใ‚ˆใฃใฆๅ–˜้ณดใ‚„ๅ‘ผๆฐ—ๅปถ้•ทใ€ๅ‘ผๅธๅ›ฐ้›ฃใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใฏ่‡ช็„ถใชใ„ใ—ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ€ๆถˆๅคฑใ™ใ‚‹ใŒใ€ใ”ใ็จ€ใซใฏ่‡ดๆญป็š„ใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆฐ—้“็‹ญ็ช„ใฏใ€ๆฐ—้“ๅนณๆป‘็ญ‹ๅŽ็ธฎใ€ๆฐ—้“็ฒ˜่†œๆตฎ่…ซใ€ๆฐ—้“ๅˆ†ๆณŒไบข้€ฒใ‚’ไธปใชๆˆๅ› ใจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏใ€ๆ…ขๆ€งใฎๆฐ—้“็‚Ž็—‡ใจๆฐ—้“้Žๆ•ๆ€งใงใ‚ใ‚‹ใŒใ€ๆฐ—้“็‚Ž็—‡ใซใฏๅฅฝ้…ธ็ƒใ€ๅฅฝไธญ็ƒใ€ใƒชใƒณใƒ‘็ƒใ€ใƒžใ‚นใƒˆ็ดฐ่ƒžใชใฉใฎ็‚Ž็—‡็ดฐ่ƒžใ€ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใ€็ทš็ถญ่Šฝ็ดฐ่ƒžใ€ๆฐ—้“ๅนณๆป‘็ญ‹ใชใฉใฎๆฐ—้“ๆง‹ๆˆ็ดฐ่ƒžใ€ใŠใ‚ˆใณ็จฎใ€…ใฎๆถฒๆ€งๅ› ๅญใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚‹ๆฐ—้“็‚Ž็—‡ใฏใ€ๆฐ—้“ๅ‚ทๅฎณใจใใ‚Œใซๅผ•ใ็ถšใๆฐ—้“ๆง‹้€ ใฎๅค‰ๅŒ–๏ผˆใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ๏ผ‰ใ‚’ๆƒน่ตทใ—ใฆ้žๅฏ้€†ๆ€งใฎๆฐ—ๆตๅˆถ้™ใ‚’ใ‚‚ใŸใ‚‰ใ—ใ€ๆฐ—้“้Žๆ•ๆ€งใ‚’ไบข้€ฒใ•ใ›ใ‚‹ใ€‚ไนณๅ…ๅ–˜ๆฏ๏ผˆ2ๆญณๆœชๆบ€ใฎๅฐๅ…ใซใŠใ‘ใ‚‹ๅ–˜ๆฏใจๅฎš็พฉ๏ผ‰ใฎ็—…ๆ…‹ใซใŠใ‘ใ‚‹็‰น็•ฐๆ€งใจใ—ใฆใฏใ€ๅ‘ผๅธๅ™จ็ณปใซใŠใ‘ใ‚‹่งฃๅ‰–ใƒป็”Ÿ็†ๅญฆ็š„็‰นๅพดใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ไนณๅนผๅ…ใฏๅนด้•ทๅ…ใซๆฏ”ใ—ๆฐ—้“ๅ†…ๅพ„ใŒ็‹ญใใ€่‚บๅผพๆ€งๅŽ็ธฎๅŠ›ใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€ๆฐ—็ฎกๆ”ฏๅนณๆป‘็ญ‹ใŒๅฐ‘ใชใใ€็ฒ˜ๆถฒๅˆ†ๆณŒ่…บใ‚„ๆฏ็ดฐ่ƒžใŒ้Žๅฝขๆˆใ‚’็คบใ—ใ€ๅดๅ‰ฏๆ›ๆฐ—ใŒๅฐ‘ใชใใ€ๆจช้š”่†œใŒๆฐดๅนณใซไป˜็€ใ—ใฆๅ‘ผๅธ้‹ๅ‹•ใŒๅฐใ•ใ„ใ“ใจใชใฉใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใŒ็”Ÿใ˜ใ‚„ใ™ใ„ใ€‚ใ“ใฎใ‚ˆใ†ใชใ“ใจใ‹ใ‚‰ใ€2ๆญณๆœชๆบ€ใงใฏๅนด้•ทๅ…ใจๆฏ”่ผƒใ—ใฆๆฐ—้“็‹ญ็ช„ใŒๅผทใ็พใ‚Œใ‚„ใ™ใใ€็—‡็Šถใฎ้€ฒ่กŒใŒ้€Ÿใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200197" ; + dcterms:source ; a owl:Class ; - rdfs:label "bronchial asthma"@en, "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ"@ja ; + rdfs:label "Bronchial asthma"@en, "ใใ‹ใ‚“ใ—ใœใ‚“ใใ"@ja-Hira, "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010940 ; skos:prefLabel "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏ"@ja . -:2200198 - :hasNotificationNumber "8" ; - terms:description "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital Central Hypoventilation Syndrome: CCHS๏ผ‰ใฏใ€ๅ‘ผๅธไธญๆžขใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…ธๅž‹ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ—ไธปใซ็ก็œ ๆ™‚ใซใ€้‡็—‡ไพ‹ใงใฏ่ฆš้†’ๆ™‚ใซใ‚‚ไฝŽๆ›ๆฐ—ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅปถ้ซ„ใซใ‚ใ‚‹ๅ‘ผๅธไธญๆžขใฎๅŒ–ๅญฆๆ€ง่ชฟ็ฏ€ใฎ็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใซๅฏพใ—ใฆๆ›ๆฐ—ๅฟœ็ญ”ใŒ็”Ÿใ˜ใชใ„ใŸใ‚ไฝŽๆ›ๆฐ—ใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‘ผๅธไธญๆžขใฎ้šœๅฎณใซๅฏพใ™ใ‚‹ๆœ‰ๅŠนใชๆฒป็™‚ใฏใชใ„ใŸใ‚ใ€ไบบๅทฅๅ‘ผๅธ็ฎก็†ใŒๅฟ…้ ˆใงใ‚ใ‚Šใ€ใ„ใ‹ใซไฝŽๆ›ๆฐ—ใซใ‚ˆใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚’้˜ฒใใ‹ใŒ็ฎก็†ใฎไธŠใง้‡่ฆใงใ‚ใ‚‹ใ€‚CCHSใฏ1970ๅนดใซๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๆฏ”่ผƒ็š„ๆ–ฐใ—ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใŸใ‚ใซ็–พๆ‚ฃใฎๅ…จไฝ“ๅƒใซใคใ„ใฆใฏๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„็‚นใ‚‚ๅคšใ„ใ€‚2003ๅนดใซใฏCCHSใฎ็—…ๅ› ้บไผๅญใจใ—ใฆใ€่‡ชๅพ‹็ฅž็ตŒใฎๅˆ†ๅŒ–ใƒป่ช˜ๅฐŽใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹PHOX2B้บไผๅญใŒ็‰นๅฎšใ•ใ‚ŒใŸใ€‚ใ“ใฎ็™บ่ฆ‹ไปฅ้™ใ€CCHSใฎ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใจใ„ใ†ๅด้ขใซใ‚‚ๆณจ็›ฎใŒ้›†ใพใฃใฆใ„ใ‚‹ใ€‚ใพใŸ่ฟ‘ๅนดใงใฏใ€PHOX2Bใฎ้บไผๅญๅค‰็•ฐๅž‹ใจCCHSใฎ่‡จๅบŠ็—‡็Šถใซใฏ้–ข้€ฃใŒใ‚ใ‚‹ใ“ใจใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹late onsetๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใชใฉใ€็พๅœจใ‚‚ๅคšใใฎ็ ”็ฉถใŒ้€ฒ่กŒใ—ใฆใŠใ‚Š็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200198" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค๏ผˆCongenital Central Hypoventilation Syndrome: CCHS๏ผ‰ใฏใ€ๅ‘ผๅธไธญๆžขใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…ธๅž‹ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใซ็™บ็—‡ใ—ไธปใซ็ก็œ ๆ™‚ใซใ€้‡็—‡ไพ‹ใงใฏ่ฆš้†’ๆ™‚ใซใ‚‚ไฝŽๆ›ๆฐ—ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅปถ้ซ„ใซใ‚ใ‚‹ๅ‘ผๅธไธญๆžขใฎๅŒ–ๅญฆๆ€ง่ชฟ็ฏ€ใฎ็•ฐๅธธใŒใ‚ใ‚Šใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใซๅฏพใ—ใฆๆ›ๆฐ—ๅฟœ็ญ”ใŒ็”Ÿใ˜ใชใ„ใŸใ‚ไฝŽๆ›ๆฐ—ใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‘ผๅธไธญๆžขใฎ้šœๅฎณใซๅฏพใ™ใ‚‹ๆœ‰ๅŠนใชๆฒป็™‚ใฏใชใ„ใŸใ‚ใ€ไบบๅทฅๅ‘ผๅธ็ฎก็†ใŒๅฟ…้ ˆใงใ‚ใ‚Šใ€ใ„ใ‹ใซไฝŽๆ›ๆฐ—ใซใ‚ˆใ‚‹ไฝŽ้…ธ็ด ่ก€็—‡ใ€้ซ˜ไบŒ้…ธๅŒ–็‚ญ็ด ่ก€็—‡ใ‚’้˜ฒใใ‹ใŒ็ฎก็†ใฎไธŠใง้‡่ฆใงใ‚ใ‚‹ใ€‚CCHSใฏ1970ๅนดใซๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๆฏ”่ผƒ็š„ๆ–ฐใ—ใ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸ็—‡ไพ‹ๆ•ฐใŒๅฐ‘ใชใ„ใŸใ‚ใซ็–พๆ‚ฃใฎๅ…จไฝ“ๅƒใซใคใ„ใฆใฏๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„็‚นใ‚‚ๅคšใ„ใ€‚2003ๅนดใซใฏCCHSใฎ็—…ๅ› ้บไผๅญใจใ—ใฆใ€่‡ชๅพ‹็ฅž็ตŒใฎๅˆ†ๅŒ–ใƒป่ช˜ๅฐŽใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹PHOX2B้บไผๅญใŒ็‰นๅฎšใ•ใ‚ŒใŸใ€‚ใ“ใฎ็™บ่ฆ‹ไปฅ้™ใ€CCHSใฎ่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใจใ„ใ†ๅด้ขใซใ‚‚ๆณจ็›ฎใŒ้›†ใพใฃใฆใ„ใ‚‹ใ€‚ใพใŸ่ฟ‘ๅนดใงใฏใ€PHOX2Bใฎ้บไผๅญๅค‰็•ฐๅž‹ใจCCHSใฎ่‡จๅบŠ็—‡็Šถใซใฏ้–ข้€ฃใŒใ‚ใ‚‹ใ“ใจใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹late onsetๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใชใฉใ€็พๅœจใ‚‚ๅคšใใฎ็ ”็ฉถใŒ้€ฒ่กŒใ—ใฆใŠใ‚Š็—…ๆ…‹ใฎ่งฃๆ˜ŽใŒ้€ฒใ‚“ใงใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200198" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital central hypoventilation syndrome"@en, "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Congenital central hypoventilation syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใฆใ„ใ‹ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "CCHS"@en ; - skos:closeMatch mondo:MONDO_0008852 ; + skos:closeMatch obo:MONDO_0008852 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไธญๆžขๆ€งไฝŽๆ›ๆฐ—็—‡ๅ€™็พค"@ja . -:2200199 - :hasNotificationNumber "2" ; - terms:description "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆidiopathic interstitial pneumonia, IIP๏ผ‰ใฏใ€ใŠใ‚‚ใซ่‚บใฎ้–“่ณชใซๆ…ขๆ€ง็š„ใช็‚Ž็—‡ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใฎใ†ใกใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200199" ; - terms:source ; - a owl:Class ; - rdfs:label "idiopathic interstitial pneumonia"@en, "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002429 ; + + nando:hasNotificationNumber "2" ; + dcterms:description "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž๏ผˆidiopathic interstitial pneumonia, IIP๏ผ‰ใฏใ€ใŠใ‚‚ใซ่‚บใฎ้–“่ณชใซๆ…ขๆ€ง็š„ใช็‚Ž็—‡ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใฎใ†ใกใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200199" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic interstitial pneumonia"@en, "ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IIPs"@en ; + skos:closeMatch obo:MONDO_0002429 ; skos:prefLabel "็‰น็™บๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja . -:2200200 - :hasNotificationNumber "1" ; - terms:description "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ๏ผˆHereditary interstitial lung disease: HILD๏ผ‰ใฏใ€้บไผๅญๅค‰็•ฐใŒไธปๅ› ใจใชใฃใฆ่ตทใ“ใ‚‹็จ€ใช้–“่ณชๆ€ง่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจX็ทšๅ†™็œŸใ‚ใ‚‹ใ„ใฏCT็”ปๅƒไธŠใฎใณใพใ‚“ๆ€ง้–“่ณชๆ€ง้™ฐๅฝฑใจๅ‘ผๅธ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง้–“่ณชๆ€ง่‚บ็‚Žใ€ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ใŠใ‚ˆใณๅฐๅ…ๆœŸ็™บ็—‡ใฎ้–“่ณชๆ€ง่‚บ็‚Žใ‚’ไปฃ่กจใจใ™ใ‚‹้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใŒใ€ๆˆไบบใซใชใฃใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚่จบๆ–ญใฎ้š›ใซใฏใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ‚’ๅซใ‚€ๅฅ‡ๅฝข็—‡ๅ€™็พคใ€ๅ‘ผๅธๅ™จใฎๅฝขๆ…‹็•ฐๅธธใ€้ชจ็ณป็ตฑ็–พๆ‚ฃใ€็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ€้‡็—‡ๆ–ฐ็”Ÿๅ…ไปฎๆญปใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…้ทๅปถๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใ€ๆ—ฉ็”ฃใ‚„ๅญๅฎฎๅ†…็‚Ž็—‡ใซ่ตทๅ› ใ™ใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃใชใฉใฎ็–พๆ‚ฃใƒป็—…ๆ…‹ใ‚’้™คๅค–ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200200" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital alveolar proteinosis"@en, "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "1" ; + dcterms:description "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ๏ผˆHereditary interstitial lung disease: HILD๏ผ‰ใฏใ€้บไผๅญๅค‰็•ฐใŒไธปๅ› ใจใชใฃใฆ่ตทใ“ใ‚‹็จ€ใช้–“่ณชๆ€ง่‚บ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจX็ทšๅ†™็œŸใ‚ใ‚‹ใ„ใฏCT็”ปๅƒไธŠใฎใณใพใ‚“ๆ€ง้–“่ณชๆ€ง้™ฐๅฝฑใจๅ‘ผๅธ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง้–“่ณชๆ€ง่‚บ็‚Žใ€ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡ใŠใ‚ˆใณๅฐๅ…ๆœŸ็™บ็—‡ใฎ้–“่ณชๆ€ง่‚บ็‚Žใ‚’ไปฃ่กจใจใ™ใ‚‹้บไผๅญ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใŒใ€ๆˆไบบใซใชใฃใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚่จบๆ–ญใฎ้š›ใซใฏใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ‚’ๅซใ‚€ๅฅ‡ๅฝข็—‡ๅ€™็พคใ€ๅ‘ผๅธๅ™จใฎๅฝขๆ…‹็•ฐๅธธใ€้ชจ็ณป็ตฑ็–พๆ‚ฃใ€็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ€้‡็—‡ๆ–ฐ็”Ÿๅ…ไปฎๆญปใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…้ทๅปถๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡ใ€ๆ—ฉ็”ฃใ‚„ๅญๅฎฎๅ†…็‚Ž็—‡ใซ่ตทๅ› ใ™ใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃใชใฉใฎ็–พๆ‚ฃใƒป็—…ๆ…‹ใ‚’้™คๅค–ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200200" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital alveolar proteinosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใ„ใปใ†ใŸใ‚“ใฑใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "C-PAP"@en, "Congenital PAP"@en, "Congenital pulmonary alveolar proteinosis"@en, "Hereditary pulmonary alveolar proteinosis"@en, "ๅ…ˆๅคฉๆ€งPAP"@ja ; + skos:closeMatch obo:MONDO_0012580 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‚บ่ƒž่›‹็™ฝ็—‡"@ja . -:2200201 - :hasNotificationNumber "1" ; - terms:identifier "2200201" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:identifier "NANDO:2200201" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary interstitial lung disease"@en, "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ"@ja ; + rdfs:label "Familial interstitial pneumonia"@en, "ใ„ใงใ‚“ใ›ใ„ใ‹ใ‚“ใ—ใคใ›ใ„ใฏใ„ใˆใ‚“"@ja-Hira, "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "HILD"@en ; - skos:prefLabel "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็–พๆ‚ฃ"@ja . + skos:prefLabel "้บไผๆ€ง้–“่ณชๆ€ง่‚บ็‚Ž"@ja . -:2200202 - :hasNotificationNumber "3" ; - terms:description "่‚บ่ƒžๅ†…ใซใƒชใƒณ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚’ไธปๆˆๅˆ†ใจใ™ใ‚‹ๅพฎๅฐ็ต็ŸณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‘ผๅธ้šœๅฎณใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200202" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "่‚บ่ƒžๅ†…ใซใƒชใƒณ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚’ไธปๆˆๅˆ†ใจใ™ใ‚‹ๅพฎๅฐ็ต็ŸณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‘ผๅธ้šœๅฎณใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200202" ; + dcterms:source ; a owl:Class ; - rdfs:label "pulmonary alveolar microlithiasis"@en, "่‚บ่ƒžๅพฎ็Ÿณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Pulmonary alveolar microlithiasis"@en, "ใฏใ„ใปใ†ใณใ›ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บ่ƒžๅพฎ็Ÿณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "PAM"@en ; - skos:closeMatch mondo:MONDO_0009928, mondo:MONDO_0018959 ; + skos:closeMatch obo:MONDO_0009928 ; skos:prefLabel "่‚บ่ƒžๅพฎ็Ÿณ็—‡"@ja . -:2200203 - :hasNotificationNumber "10" ; - terms:description "ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใฎ่กจ้ขใซใฏๅคšๆ•ฐใฎ็ทšๆฏ›ใŒๅญ˜ๅœจใ—ใ€็ทšๆฏ›ใŒ้€ฃๅ‹•ใ—ใฆๅฃๅดใซๅ‘ใ‹ใฃใฆ้žญใ‚’ๆ‰“ใคใ‚ˆใ†ใซ้‹ๅ‹•ใ™ใ‚‹ใ“ใจใงใ€็ฒ˜ๆถฒๅฑคใฎๆตใ‚ŒใŒ็”Ÿใ˜ใ€ๅพฎ็ฒ’ๅญ็Šถใฎ็•ฐ็‰ฉใ€็ดฐ่Œใ€ๅ–€็—ฐใชใฉใ‚’ๆŽ’้™คใ—ใฆๆฐ—้“ๅ†…ใ‚’ๆธ…ๆต„ใซไฟใคใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ใ“ใฎ็ทšๆฏ›ใŒๆญฃๅธธใชๆง‹้€ ใจๆฉŸ่ƒฝใ‚’็™บๆฎใ™ใ‚‹ใŸใ‚ใซใฏใ€ๅคšๆ•ฐใฎ้บไผๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ทšๆฏ›้‹ๅ‹•ใŒ้šœๅฎณใ•ใ‚Œใ€ไธญ่€ณใ€่€ณ็ฎกใ€้ผปใ€ๅ‰ฏ้ผป่…”ใ€ๅ’ฝ้ ญใ‚’ๅซใ‚ใŸๅ‘ผๅธๅ™จ็ณปใฎๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๆ…ขๆ€งๅ‰ฏ้ผป่…”็‚Žใ‚„ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ‚’้ซ˜้ ปๅบฆใซๅˆไฝตใ™ใ‚‹ใ€‚ใ‹ใคใฆใฏ็ทšๆฏ›ไธๅ‹•็—‡ๅ€™็พคใจๅ‘ผใฐใ‚ŒใŸใŒใ€้‹ๅ‹•ใŒๅผฑใ„ใ‚‚ใฎใ‚„ๅ”่ชฟ้‹ๅ‹•ใŒไธๆƒใ„ใชใ‚‚ใฎใชใฉใ‚‚ไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๅœจใฎๅ‘ผ็งฐใซ่ฝใก็€ใ„ใŸใ€‚ใชใŠใ€ๆœฌ็—‡ใงใฏ่ƒŽๅ…ๆœŸใซๅทฆๅณใŒ้ฉๆญฃใซๅˆคๅˆฅใ•ใ‚Œใšใ€็ด„ๅŠๆ•ฐใงๅฎŒๅ…จๅ†…่‡“้€†ไฝใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚’Kartagener็—‡ๅ€™็พคใจๅ‘ผใถใŒใ€ๅ†…่‡“้€†ไฝใฎๆœ‰็„กใจ้‡็—‡ๅบฆใซใฏ้–ขไฟ‚ใŒใชใใ€ๆœฌๆ…‹ใฏๅŒใ˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200203" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ๆฐ—้“ไธŠ็šฎ็ดฐ่ƒžใฎ่กจ้ขใซใฏๅคšๆ•ฐใฎ็ทšๆฏ›ใŒๅญ˜ๅœจใ—ใ€็ทšๆฏ›ใŒ้€ฃๅ‹•ใ—ใฆๅฃๅดใซๅ‘ใ‹ใฃใฆ้žญใ‚’ๆ‰“ใคใ‚ˆใ†ใซ้‹ๅ‹•ใ™ใ‚‹ใ“ใจใงใ€็ฒ˜ๆถฒๅฑคใฎๆตใ‚ŒใŒ็”Ÿใ˜ใ€ๅพฎ็ฒ’ๅญ็Šถใฎ็•ฐ็‰ฉใ€็ดฐ่Œใ€ๅ–€็—ฐใชใฉใ‚’ๆŽ’้™คใ—ใฆๆฐ—้“ๅ†…ใ‚’ๆธ…ๆต„ใซไฟใคใ‚ˆใ†ใซใชใฃใฆใ„ใ‚‹ใ€‚ใ“ใฎ็ทšๆฏ›ใŒๆญฃๅธธใชๆง‹้€ ใจๆฉŸ่ƒฝใ‚’็™บๆฎใ™ใ‚‹ใŸใ‚ใซใฏใ€ๅคšๆ•ฐใฎ้บไผๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ทšๆฏ›้‹ๅ‹•ใŒ้šœๅฎณใ•ใ‚Œใ€ไธญ่€ณใ€่€ณ็ฎกใ€้ผปใ€ๅ‰ฏ้ผป่…”ใ€ๅ’ฝ้ ญใ‚’ๅซใ‚ใŸๅ‘ผๅธๅ™จ็ณปใฎๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ๆ…ขๆ€งๅ‰ฏ้ผป่…”็‚Žใ‚„ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ‚’้ซ˜้ ปๅบฆใซๅˆไฝตใ™ใ‚‹ใ€‚ใ‹ใคใฆใฏ็ทšๆฏ›ไธๅ‹•็—‡ๅ€™็พคใจๅ‘ผใฐใ‚ŒใŸใŒใ€้‹ๅ‹•ใŒๅผฑใ„ใ‚‚ใฎใ‚„ๅ”่ชฟ้‹ๅ‹•ใŒไธๆƒใ„ใชใ‚‚ใฎใชใฉใ‚‚ไธ€้€ฃใฎ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใ€็พๅœจใฎๅ‘ผ็งฐใซ่ฝใก็€ใ„ใŸใ€‚ใชใŠใ€ๆœฌ็—‡ใงใฏ่ƒŽๅ…ๆœŸใซๅทฆๅณใŒ้ฉๆญฃใซๅˆคๅˆฅใ•ใ‚Œใšใ€็ด„ๅŠๆ•ฐใงๅฎŒๅ…จๅ†…่‡“้€†ไฝใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚’Kartagener็—‡ๅ€™็พคใจๅ‘ผใถใŒใ€ๅ†…่‡“้€†ไฝใฎๆœ‰็„กใจ้‡็—‡ๅบฆใซใฏ้–ขไฟ‚ใŒใชใใ€ๆœฌๆ…‹ใฏๅŒใ˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200203" ; + dcterms:source ; a owl:Class ; - rdfs:label "primary ciliary dyskinesia"@en, "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:label "Primary ciliary dyskinesia"@en, "ใ›ใ‚“ใ‚‚ใ†ใใฎใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016575 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016575 ; skos:prefLabel "็ทšๆฏ›ๆฉŸ่ƒฝไธๅ…จ็—‡ๅ€™็พค"@ja . -:2200204 - :hasNotificationNumber "10" ; - terms:identifier "2200204" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200204" ; + dcterms:source ; a owl:Class ; - rdfs:label "Kartagener syndrome"@en, "ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009484, mondo:MONDO_0016575 ; + rdfs:label "Kartagener syndrome"@en, "ใ‹ใ‚‹ใŸใ’ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Kartagener็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0016575 ; skos:prefLabel "ใ‚ซใƒซใ‚ฟใ‚ฒใƒŠใƒผ็—‡ๅ€™็พค"@ja . -:2200205 - :hasNotificationNumber "12" ; - terms:description "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡(Cystic fibrosis: CF)ใฏใ€cystic fibrosis transmembrane conductance regulator (CFTR) ้บไผๅญใฎๅค‰็•ฐใŒๅŽŸๅ› ใจใชใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CFTRใฏๅ…จ่บซใฎไธŠ็šฎ่†œ็ดฐ่ƒžใซ็™บ็พใ™ใ‚‹ใ‚ฏใƒญใƒผใƒซใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚Šใ€ใ‚คใ‚ชใƒณใจๆฐดใฎ่ผธ้€ใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ€‚CFTRใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ“ใฎ่ชฟ็ฏ€ๆฉŸๆง‹ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒๆฉŸ่ƒฝใซ็•ฐๅธธใ‚’ใใŸใ™ใ€‚ๆถˆๅŒ–็ฎกใ‚„ๆฐ—้“ใฎๅˆ†ๆณŒๆถฒใŒ็ฒ˜็จ ใจใชใ‚Šใ€่†ตๅค–ๅˆ†ๆณŒ็•ฐๅธธใซใ‚ˆใ‚‹่„‚่‚ชๅธๅŽไธๅ…จใ€ๆ „้คŠ้šœๅฎณใŒ่ตทใ“ใ‚‹ใ€‚ๆฐ—้“ๅˆ†ๆณŒใฎ็•ฐๅธธใฏๆŽ’็—ฐๅ›ฐ้›ฃใƒป้›ฃๆฒปๆ€งๆฐ—้“ๆ„ŸๆŸ“ใฎๅŽŸๅ› ใจใชใ‚Šใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใซ่‡ณใ‚‹ใ€‚ๆฌง็ฑณใฎ็–พๆ‚ฃๅcystic fibrosisใฎๅ’Œ่จณใฏๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใพใงๆˆ‘ใŒๅ›ฝใงใฏ่†ตๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใฎ็–พๆ‚ฃๅใง้›ฃ็—…็™ป้Œฒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200205" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡(Cystic fibrosis: CF)ใฏใ€cystic fibrosis transmembrane conductance regulator (CFTR) ้บไผๅญใฎๅค‰็•ฐใŒๅŽŸๅ› ใจใชใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CFTRใฏๅ…จ่บซใฎไธŠ็šฎ่†œ็ดฐ่ƒžใซ็™บ็พใ™ใ‚‹ใ‚ฏใƒญใƒผใƒซใ‚คใ‚ชใƒณใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚Šใ€ใ‚คใ‚ชใƒณใจๆฐดใฎ่ผธ้€ใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ€‚CFTRใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ“ใฎ่ชฟ็ฏ€ๆฉŸๆง‹ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒๆฉŸ่ƒฝใซ็•ฐๅธธใ‚’ใใŸใ™ใ€‚ๆถˆๅŒ–็ฎกใ‚„ๆฐ—้“ใฎๅˆ†ๆณŒๆถฒใŒ็ฒ˜็จ ใจใชใ‚Šใ€่†ตๅค–ๅˆ†ๆณŒ็•ฐๅธธใซใ‚ˆใ‚‹่„‚่‚ชๅธๅŽไธๅ…จใ€ๆ „้คŠ้šœๅฎณใŒ่ตทใ“ใ‚‹ใ€‚ๆฐ—้“ๅˆ†ๆณŒใฎ็•ฐๅธธใฏๆŽ’็—ฐๅ›ฐ้›ฃใƒป้›ฃๆฒปๆ€งๆฐ—้“ๆ„ŸๆŸ“ใฎๅŽŸๅ› ใจใชใ‚Šใ€ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใซ่‡ณใ‚‹ใ€‚ๆฌง็ฑณใฎ็–พๆ‚ฃๅcystic fibrosisใฎๅ’Œ่จณใฏๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใพใงๆˆ‘ใŒๅ›ฝใงใฏ่†ตๅšข่ƒžๆ€ง็ทš็ถญ็—‡ใฎ็–พๆ‚ฃๅใง้›ฃ็—…็™ป้Œฒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200205" ; + dcterms:source ; a owl:Class ; - rdfs:label "cystic fibrosis"@en, "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Cystic fibrosis"@en, "ใฎใ†ใปใ†ใ›ใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "CF"@en ; - skos:closeMatch mondo:MONDO_0009061 ; + skos:closeMatch obo:MONDO_0009061 ; skos:prefLabel "ๅšข่ƒžๆ€ง็ทš็ถญ็—‡"@ja . -:2200206 - :hasNotificationNumber "4" ; - terms:description "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใฏใ€ๆง˜ใ€…ใชๅŽŸๅ› ใงๆฐ—็ฎกๆ”ฏๅฃใŒ็ ดๅฃŠใ•ใ‚Œใฆ่†จ้š†ใ—ใ€ๆฐ—็ฎกๆ”ฏๅ†…่…”ใŒๆ‹กๅผตใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅ†…่…”ใซใฏ่†ฟๆ€งใฎ็—ฐใŒๅ……ๆบ€ใ—ใ€ๆ…ขๆ€ง็š„ใซ็‚Ž็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ‹ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ€‚ๅ‰ฏ้ผป่…”็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200206" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใฏใ€ๆง˜ใ€…ใชๅŽŸๅ› ใงๆฐ—็ฎกๆ”ฏๅฃใŒ็ ดๅฃŠใ•ใ‚Œใฆ่†จ้š†ใ—ใ€ๆฐ—็ฎกๆ”ฏๅ†…่…”ใŒๆ‹กๅผตใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅ†…่…”ใซใฏ่†ฟๆ€งใฎ็—ฐใŒๅ……ๆบ€ใ—ใ€ๆ…ขๆ€ง็š„ใซ็‚Ž็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ‹ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ€‚ๅ‰ฏ้ผป่…”็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200206" ; + dcterms:source ; a owl:Class ; - rdfs:label "bronchiectasis"@en, "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡"@ja ; + rdfs:label "Bronchiectasis"@en, "ใใ‹ใ‚“ใ—ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004822 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004822 ; skos:prefLabel "ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡"@ja . -:2200207 - :hasNotificationNumber "11" ; - terms:description "่‚บๆœซๆขขๆ€งใฎๅพฎๅฐๅ‡บ่ก€ใŒๅๅพฉใ—ใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณใŒ่‚บ็ต„็น”ใซๆฒˆ็€ใ—ใฆใใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ„ใ†ใ€‚ๆง˜ใ€…ใช็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใŒใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใ‚’็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200207" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "่‚บๆœซๆขขๆ€งใฎๅพฎๅฐๅ‡บ่ก€ใŒๅๅพฉใ—ใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ˜ใƒขใ‚ธใƒ‡ใƒชใƒณใŒ่‚บ็ต„็น”ใซๆฒˆ็€ใ—ใฆใใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ„ใ†ใ€‚ๆง˜ใ€…ใช็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใŒใ€ๅŽŸๅ› ใŒ็‰นๅฎšใงใใชใ„ใ‚‚ใฎใ‚’็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚นใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200207" ; + dcterms:source ; a owl:Class ; - rdfs:label "idiopathic pulmonary hemosiderosis"@en, "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น"@ja ; + rdfs:label "Idiopathic pulmonary hemosiderosis"@en, "ใจใใฏใคใ›ใ„ใฏใ„ใธใ‚‚ใ˜ใงใ‚ใƒผใ—ใ™"@ja-Hira, "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008346 ; + rdfs:subClassOf ; + skos:altLabel "Idiopathic pulmonary haemosiderosis"@en ; + skos:closeMatch obo:MONDO_0008346 ; skos:prefLabel "็‰น็™บๆ€ง่‚บใƒ˜ใƒขใ‚ธใƒ‡ใƒญใƒผใ‚ทใ‚น"@ja . -:2200208 - :hasNotificationNumber "14" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ‘ผๅธ้šœๅฎณใŒ่ปฝๅฟซใ—ใŸๅพŒใ€ใ‚ใ‚‹ใ„ใฏใใ‚Œใซๅผ•ใ็ถšใ„ใฆใ€้…ธ็ด ๅธๅ…ฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ‚ˆใ†ใชๅ‘ผๅธ็ชฎ่ฟซ็—‡็ŠถใŒๆ—ฅ้ฝข28ใ‚’่ถ…ใˆใฆ็ถšใใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ่‚บใซ็—…ๅค‰ใŒใชใ„็„กๅ‘ผๅธ็™บไฝœใ€ไธ€้Žๆ€งใซ้…ธ็ด ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŒ้•ทๆœŸ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ—ใชใ„่‚บ็‚Žใชใฉใฎๆ€ฅๆ€ง็–พๆ‚ฃใฏ้™คๅค–ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200208" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ‘ผๅธ้šœๅฎณใŒ่ปฝๅฟซใ—ใŸๅพŒใ€ใ‚ใ‚‹ใ„ใฏใใ‚Œใซๅผ•ใ็ถšใ„ใฆใ€้…ธ็ด ๅธๅ…ฅใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ‚ˆใ†ใชๅ‘ผๅธ็ชฎ่ฟซ็—‡็ŠถใŒๆ—ฅ้ฝข28ใ‚’่ถ…ใˆใฆ็ถšใใ‚‚ใฎใงใ‚ใ‚‹๏ผŽ่‚บใซ็—…ๅค‰ใŒใชใ„็„กๅ‘ผๅธ็™บไฝœใ€ไธ€้Žๆ€งใซ้…ธ็ด ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใŒ้•ทๆœŸ็š„ใชๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ—ใชใ„่‚บ็‚Žใชใฉใฎๆ€ฅๆ€ง็–พๆ‚ฃใฏ้™คๅค–ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200208" ; + dcterms:source ; a owl:Class ; - rdfs:label "chronic lung disease"@en, "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Chronic lung disease"@en, "ใพใ‚“ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "CLD"@en ; - skos:closeMatch mondo:MONDO_0008964 ; skos:prefLabel "ๆ…ขๆ€ง่‚บ็–พๆ‚ฃ"@ja . -:2200209 - :hasNotificationNumber "13" ; - terms:description "ไธๅฏ้€†ๆ€งใฎ็ดฐๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใซใ‚ˆใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใชใฉใฎๆ›ๆฐ—้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200209" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "ไธๅฏ้€†ๆ€งใฎ็ดฐๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ใซใ‚ˆใฃใฆๅŠดไฝœๆ™‚ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ไฝŽ้…ธ็ด ่ก€็—‡ใชใฉใฎๆ›ๆฐ—้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200209" ; + dcterms:source ; a owl:Class ; - rdfs:label "bronchiolitis obliterans"@en, "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015265 ; + rdfs:label "Bronchiolitis obliterans"@en, "ใธใ„ใใใ›ใ„ใ•ใ„ใใ‹ใ‚“ใ—ใˆใ‚“"@ja-Hira, "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Obliterating bronchiolitis"@en ; + skos:closeMatch obo:MONDO_0015265 ; skos:prefLabel "้–‰ๅกžๆ€ง็ดฐๆฐ—็ฎกๆ”ฏ็‚Ž"@ja . -:2200210 - :hasNotificationNumber "7" ; - terms:description "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ๅ†…ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ๆฌ ๆๅญ”ใฏๆจช้š”่†œใฎใฉใฎ้ƒจไฝใซ็”Ÿใ˜ใฆใ‚‚ใ‚ˆใ„ใŒใ€้ ปๅบฆใŒ้ซ˜ใ่‡จๅบŠ็š„ๆ„็พฉใŒๅคงใใ„ใฎใฏใ€ๆฌ ๆๅญ”ใŒๆจช้š”่†œใฎๅพŒๅค–ๅดใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใงใ‚ใ‚‹ใŸใ‚ใ€ๅ˜ใซๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ขใจใ„ใˆใฐใ€ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใฎใ“ใจใ‚’ๆŒ‡ใ™ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่ƒธ่…”ๅ†…ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200210" ; - terms:source ; - a owl:Class ; - rdfs:label "congenital diaphragmatic hernia"@en, "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005711 ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใธใƒซใƒ‹ใ‚ขใจใฏใ€็™บ็”Ÿ็•ฐๅธธใซใ‚ˆใฃใฆๅ…ˆๅคฉ็š„ใซ็”Ÿใ˜ใŸๆจช้š”่†œใฎๆฌ ๆๅญ”ใ‚’้€šใ˜ใฆใ€่…น่…”ๅ†…่‡“ๅ™จใŒ่ƒธ่…”ๅ†…ใธ่„ฑๅ‡บใ™ใ‚‹็–พๆ‚ฃใ‚’ใ„ใ†ใ€‚ๆฌ ๆๅญ”ใฏๆจช้š”่†œใฎใฉใฎ้ƒจไฝใซ็”Ÿใ˜ใฆใ‚‚ใ‚ˆใ„ใŒใ€้ ปๅบฆใŒ้ซ˜ใ่‡จๅบŠ็š„ๆ„็พฉใŒๅคงใใ„ใฎใฏใ€ๆฌ ๆๅญ”ใŒๆจช้š”่†œใฎๅพŒๅค–ๅดใ‚’ไธญๅฟƒใซ็™บ็”Ÿใ™ใ‚‹ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใงใ‚ใ‚‹ใŸใ‚ใ€ๅ˜ใซๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ขใจใ„ใˆใฐใ€ใƒœใƒ›ใƒ€ใƒฌใ‚ฏๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใฎใ“ใจใ‚’ๆŒ‡ใ™ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่ƒธ่…”ๅ†…ใซ่„ฑๅ‡บใ™ใ‚‹่…น่…”ๅ†…่‡“ๅ™จใซใฏใ€ๅฐ่…ธใ€็ต่…ธใ€่‚่‡“ใ€่ƒƒใ€ๅไบŒๆŒ‡่…ธใ€่„พ่‡“ใ€่†ต่‡“ใ€่…Ž่‡“ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200210" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital diaphragmatic hernia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŠใ†ใ‹ใใพใใธใ‚‹ใซใ‚"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CDH"@en ; + skos:closeMatch obo:MONDO_0005711 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆจช้š”่†œใƒ˜ใƒซใƒ‹ใ‚ข"@ja . -:2200211 - :hasNotificationNumber "9" ; - terms:description "่‚บๅฎŸ่ณชๅ†…ใซๅ…ˆๅคฉๆ€งใซๆฐ—้“ไปฅๅค–ใซๆ’ๅธธ็š„ใซๅšข่ƒžใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใฏๅ‡บ็”Ÿๅ‰ใซ่ƒŽๅ…่‚บใฎ็•ฐๅธธใจใ—ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๅ…จๅ›ฝ็š„ใช่ชฟๆŸปใงใฏใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใฎ10-15๏ผ…็จ‹ๅบฆใฏๅ‘จ็”ฃๆœŸใซใ€่ƒŽๅ…ๆฐด่…ซใ€ๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใ€็”Ÿ็›ดๅพŒใฎๅ‘ผๅธไธๅ…จใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅˆ†ใ‹ใฃใŸใ€‚็”Ÿ็›ดๅพŒใซๅ‘ผๅธๅ™จ็—‡็ŠถใŒใชใ„ๅ ดๅˆใงใ‚‚ใ€9ๅ‰ฒไปฅไธŠใฎ็—‡ไพ‹ใฏๅนผๅ…ๆœŸใฎ้–“ใซๅๅพฉใ™ใ‚‹่‚บๆ„ŸๆŸ“ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใŸใ‚ใ€ไนณๅ…ๆœŸใ€้…ใใ‚‚ๅนผๅ…ๆœŸๆ—ฉๆœŸใพใงใซๆ‰‹่ก“็š„ใซ็—…ๅค‰ใ‚’ๅˆ‡้™คใ™ในใใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€้ƒจใฎ็—‡ไพ‹ใงใฏ่ค‡ๆ•ฐ่‚บ่‘‰ใซ็—…ๅค‰ใŒใฟใ‚‰ใ‚Œใ€ๆ‰‹่ก“ๅพŒใ‚‚ๆˆไบบๅพŒใพใงๅšข่ƒžๆ€ง็—…ๅค‰ใฎ้บๆฎ‹ใ‚„ใ€ๅ‘ผๅธ้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๆ‰‹่ก“ใฎๅๅพฉใ‚„ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆœฌ็–พๆ‚ฃใ‹ใ‚‰ใฎ็™บใŒใ‚“ใฎๅ ฑๅ‘ŠใŒๆตทๅค–ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ1992ๅนดไปฅ้™ใซๅ‡บ็”Ÿใ—ใŸ850ไพ‹ไปฅไธŠใฎ็—‡ไพ‹ไธญใง็™บใŒใ‚“ไพ‹ใฏ็ขบ่ชใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ“ใ‚Œใ‚‰ใ‹ใ‚‰ใ€ๆ‰‹่ก“ๅพŒใซๆญฃๅธธ่‚บๆฉŸ่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹็—‡ไพ‹ใŒๅคšใ„ไธ€ๆ–นใงใ€ๆˆไบบไปฅ้™ใ‚‚็ตŒ้Ž่ฆณๅฏŸใ‚’่ฆใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200211" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "่‚บๅฎŸ่ณชๅ†…ใซๅ…ˆๅคฉๆ€งใซๆฐ—้“ไปฅๅค–ใซๆ’ๅธธ็š„ใซๅšข่ƒžใŒๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใฏๅ‡บ็”Ÿๅ‰ใซ่ƒŽๅ…่‚บใฎ็•ฐๅธธใจใ—ใฆ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ๆœฌ้‚ฆใซใŠใ‘ใ‚‹ๅ…จๅ›ฝ็š„ใช่ชฟๆŸปใงใฏใ€ๅ‡บ็”Ÿๅ‰่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใฎ10-15๏ผ…็จ‹ๅบฆใฏๅ‘จ็”ฃๆœŸใซใ€่ƒŽๅ…ๆฐด่…ซใ€ๅญๅฎฎๅ†…่ƒŽๅ…ๆญปไบกใ€็”Ÿ็›ดๅพŒใฎๅ‘ผๅธไธๅ…จใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅˆ†ใ‹ใฃใŸใ€‚็”Ÿ็›ดๅพŒใซๅ‘ผๅธๅ™จ็—‡็ŠถใŒใชใ„ๅ ดๅˆใงใ‚‚ใ€9ๅ‰ฒไปฅไธŠใฎ็—‡ไพ‹ใฏๅนผๅ…ๆœŸใฎ้–“ใซๅๅพฉใ™ใ‚‹่‚บๆ„ŸๆŸ“ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใŸใ‚ใ€ไนณๅ…ๆœŸใ€้…ใใ‚‚ๅนผๅ…ๆœŸๆ—ฉๆœŸใพใงใซๆ‰‹่ก“็š„ใซ็—…ๅค‰ใ‚’ๅˆ‡้™คใ™ในใใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€้ƒจใฎ็—‡ไพ‹ใงใฏ่ค‡ๆ•ฐ่‚บ่‘‰ใซ็—…ๅค‰ใŒใฟใ‚‰ใ‚Œใ€ๆ‰‹่ก“ๅพŒใ‚‚ๆˆไบบๅพŒใพใงๅšข่ƒžๆ€ง็—…ๅค‰ใฎ้บๆฎ‹ใ‚„ใ€ๅ‘ผๅธ้šœๅฎณใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๆ‰‹่ก“ใฎๅๅพฉใ‚„ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่ฆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆœฌ็–พๆ‚ฃใ‹ใ‚‰ใฎ็™บใŒใ‚“ใฎๅ ฑๅ‘ŠใŒๆตทๅค–ใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅ…จๅ›ฝ่ชฟๆŸปใงใฏ1992ๅนดไปฅ้™ใซๅ‡บ็”Ÿใ—ใŸ850ไพ‹ไปฅไธŠใฎ็—‡ไพ‹ไธญใง็™บใŒใ‚“ไพ‹ใฏ็ขบ่ชใ•ใ‚Œใฆใ„ใชใ„ใ€‚ใ“ใ‚Œใ‚‰ใ‹ใ‚‰ใ€ๆ‰‹่ก“ๅพŒใซๆญฃๅธธ่‚บๆฉŸ่ƒฝใ‚’็ฒๅพ—ใ™ใ‚‹็—‡ไพ‹ใŒๅคšใ„ไธ€ๆ–นใงใ€ๆˆไบบไปฅ้™ใ‚‚็ตŒ้Ž่ฆณๅฏŸใ‚’่ฆใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200211" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital cystic lung disease"@en, "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ"@ja ; + rdfs:label "Congenital cystic lung disease"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฎใ†ใปใ†ใ›ใ„ใฏใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅšข่ƒžๆ€ง่‚บ็–พๆ‚ฃ"@ja . -:2200212 - :hasNotificationNumber "72" ; - terms:description "ๆดž็ต็ฏ€ใฎไธ€้Žๆ€งใ‚ใ‚‹ใ„ใฏๆŒ็ถšๆ€งใฎๆฉŸ่ƒฝไธๅ…จใ‚‚ใ—ใใฏใ€ๆดž็ต็ฏ€ใ‹ใ‚‰ๅฟƒๆˆฟใธใฎ่ˆˆๅฅฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚‹็—‡ๅ€™็พคใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚Rubensteinใฎๅˆ†้กžใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚Rubensteinใฎๅˆ†้กž๏ผš I็พค๏ผšๅŽŸๅ› ไธๆ˜Žใฎๆดžๆ€งๅพ่„ˆ๏ผˆ๏ผœ50/ๅˆ†๏ผ‰ II็พค๏ผšๆดžๅœๆญขใพใŸใฏๆดžๆˆฟใƒ–ใƒญใƒƒใ‚ฏ III็พค๏ผšๅพ่„ˆ้ ป่„ˆ็—‡ๅ€™็พคๅพ่„ˆใซใ‚ˆใ‚‹็—‡็ŠถใŒใ‚ใ‚‹ใ‚‚ใฎใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใงใ‚ใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆคใˆ่พผใฟๅพŒใฏใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใƒšใƒผใ‚นใƒกใƒผใ‚ซ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200212" ; - terms:source ; + + nando:hasNotificationNumber "72" ; + dcterms:description "ๆดž็ต็ฏ€ใฎไธ€้Žๆ€งใ‚ใ‚‹ใ„ใฏๆŒ็ถšๆ€งใฎๆฉŸ่ƒฝไธๅ…จใ‚‚ใ—ใใฏใ€ๆดž็ต็ฏ€ใ‹ใ‚‰ๅฟƒๆˆฟใธใฎ่ˆˆๅฅฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚‹็—‡ๅ€™็พคใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใฎใ‚‚ใฎใฏๆฏ”่ผƒ็š„ๅคšใ„ใ€‚้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚Rubensteinใฎๅˆ†้กžใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚Rubensteinใฎๅˆ†้กž๏ผš I็พค๏ผšๅŽŸๅ› ไธๆ˜Žใฎๆดžๆ€งๅพ่„ˆ๏ผˆ๏ผœ50/ๅˆ†๏ผ‰ II็พค๏ผšๆดžๅœๆญขใพใŸใฏๆดžๆˆฟใƒ–ใƒญใƒƒใ‚ฏ III็พค๏ผšๅพ่„ˆ้ ป่„ˆ็—‡ๅ€™็พคๅพ่„ˆใซใ‚ˆใ‚‹็—‡็ŠถใŒใ‚ใ‚‹ใ‚‚ใฎใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใงใ‚ใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆคใˆ่พผใฟๅพŒใฏใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใƒšใƒผใ‚นใƒกใƒผใ‚ซ็ฎก็†ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200212" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sick sinus syndrome"@en, "ๆดžไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:label "Sick sinus syndrome"@en, "ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆดžไธๅ…จ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001823 ; + rdfs:subClassOf ; + skos:altLabel "SSS"@en ; + skos:closeMatch obo:MONDO_0001823 ; skos:prefLabel "ๆดžไธๅ…จ็—‡ๅ€™็พค"@ja . -:2200213 - :hasNotificationNumber "95" ; - terms:description "ๅฟƒ้›ปๅ›ณใงPR้–“้š”ใฎๅปถ้•ทใ‚’ไผดใ‚ใšใ€็ช็„ถๅฟƒๅฎคใธใฎไผๅฐŽใŒ้€”็ตถใ—ใ€๏ผ‘ใ€œ๏ผ’ๆ‹ใฎQRSๆณขใŒ่„ฑ่ฝใ™ใ‚‹ๅฟƒๆˆฟๅฟƒๅฎคไผๅฐŽ้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใ€‚1ใ€œ2ๆ‹ใฎQRS่„ฑ่ฝใงใ‚ใ‚Œใฐใ€็—‡็Šถใ‚’่จดใˆใ‚‹ใ“ใจใฏๅฐ‘ใชใ„ใŒใ€2๏ผš1ๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏไปฅไธŠใฎ้ซ˜ๅบฆๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใงใฏๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซๆบ–ใ˜ใŸ็ตŒ้Ž่ฆณๅฏŸใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซ้€ฒ่กŒใ™ใ‚Œใฐใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใฎ้ฉๅฟœใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200213" ; - terms:source ; + + nando:hasNotificationNumber "96" ; + dcterms:description "ๅฟƒ้›ปๅ›ณใงPR้–“้š”ใฎๅปถ้•ทใ‚’ไผดใ‚ใšใ€็ช็„ถๅฟƒๅฎคใธใฎไผๅฐŽใŒ้€”็ตถใ—ใ€๏ผ‘ใ€œ๏ผ’ๆ‹ใฎQRSๆณขใŒ่„ฑ่ฝใ™ใ‚‹ๅฟƒๆˆฟๅฟƒๅฎคไผๅฐŽ้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ไธๆ˜Žใ€‚1ใ€œ2ๆ‹ใฎQRS่„ฑ่ฝใงใ‚ใ‚Œใฐใ€็—‡็Šถใ‚’่จดใˆใ‚‹ใ“ใจใฏๅฐ‘ใชใ„ใŒใ€2๏ผš1ๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏไปฅไธŠใฎ้ซ˜ๅบฆๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใงใฏๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซๆบ–ใ˜ใŸ็ตŒ้Ž่ฆณๅฏŸใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏใซ้€ฒ่กŒใ™ใ‚Œใฐใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใฎ้ฉๅฟœใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200213" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mobitz type II second degree atrioventricular block"@en, "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ"@ja ; + rdfs:label "Mobitz type II second degree atrioventricular block"@en, "ใ‚‚ใณใฃใค๏ผ’ใŒใŸใถใ‚ใฃใ"@ja-Hira, "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Mobitz2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ "@ja ; + skos:closeMatch obo:MONDO_0001261 ; skos:prefLabel "ใƒขใƒ“ใƒƒใƒ„2ๅž‹ใƒ–ใƒญใƒƒใ‚ฏ"@ja . -:2200214 - :hasNotificationNumber "9" ; - terms:description "PๆณขใŒๅฟƒๅฎคใซไผๅฐŽใ›ใšใ€PๆณขใจQRSๆณขใŒๅ…จใ็‹ฌ็ซ‹ใ—ใŸ่ชฟๅพ‹ใ‚’ใจใ‚‹ใ€‚่ƒŽๅ…ใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Š๏ผˆๅ…ˆๅคฉๆ€งๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ๏ผ‰ใ€ใ“ใฎๅ ดๅˆใ€ๆŠ—SS-AๆŠ—ไฝ“ใ€ๆŠ—SS-BๆŠ—ไฝ“้™ฝๆ€งใฎๆฏใ‹ใ‚‰ใฎๅ‡บ็”Ÿๅ…ใฎใ“ใจใŒๅคšใ„ใ€‚ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ€ๅŽŸๅ› ไธๆ˜Žใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—‡ๅ€™ๆ€งๅพ่„ˆใ€ๅฟƒๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใ€ไฝŽๆ‹ๅ‡บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใ‚’่กŒใชใˆใฐไบˆๅพŒใฏๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็„กๆฒป็™‚ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200214" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "PๆณขใŒๅฟƒๅฎคใซไผๅฐŽใ›ใšใ€PๆณขใจQRSๆณขใŒๅ…จใ็‹ฌ็ซ‹ใ—ใŸ่ชฟๅพ‹ใ‚’ใจใ‚‹ใ€‚่ƒŽๅ…ใ‚„ๆ–ฐ็”Ÿๅ…ๆœŸใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚Š๏ผˆๅ…ˆๅคฉๆ€งๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ๏ผ‰ใ€ใ“ใฎๅ ดๅˆใ€ๆŠ—SS-AๆŠ—ไฝ“ใ€ๆŠ—SS-BๆŠ—ไฝ“้™ฝๆ€งใฎๆฏใ‹ใ‚‰ใฎๅ‡บ็”Ÿๅ…ใฎใ“ใจใŒๅคšใ„ใ€‚ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ€ๅŽŸๅ› ไธๆ˜Žใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็—‡ๅ€™ๆ€งๅพ่„ˆใ€ๅฟƒๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใ€ไฝŽๆ‹ๅ‡บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏใ€ใƒšใƒผใ‚นใƒกใƒผใ‚ซใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ใƒšใƒผใ‚นใƒกใƒผใ‚ซๆค่พผใฟใ‚’่กŒใชใˆใฐไบˆๅพŒใฏๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็„กๆฒป็™‚ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200214" ; + dcterms:source ; a owl:Class ; - rdfs:label "Complete atrio-ventricular block"@en, "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ"@ja ; + rdfs:label "Complete atrio-ventricular block"@en, "ใ‹ใ‚“ใœใ‚“ใผใ†ใ—ใคใถใ‚ใฃใ"@ja-Hira, "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000468, obo:MONDO_0009326 ; skos:prefLabel "ๅฎŒๅ…จๆˆฟๅฎคใƒ–ใƒญใƒƒใ‚ฏ"@ja . -:2200215 - :hasNotificationNumber "13" ; - terms:description "ๅˆบๆฟ€ไผๅฐŽ็ณปใฎๅทฆ่„šใ‚‚ใ—ใใฏๅณ่„šใฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅน…ใฎๅบƒใ„QRSใงใ€QRSๆ™‚้–“ใฏ0.12็ง’ไปฅไธŠใจใชใ‚‹ใ€‚ๅคšใใฏ็‰น็™บๆ€งใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใ€‚่„šใƒ–ใƒญใƒƒใ‚ฏใฎใฟใงใฏๆฒป็™‚ใฎๅฟ…่ฆใฏใชใ„ใ€‚็‰น็™บไพ‹ใฎไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200215" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "ๅˆบๆฟ€ไผๅฐŽ็ณปใฎๅทฆ่„šใ‚‚ใ—ใใฏๅณ่„šใฎไผๅฐŽ้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅน…ใฎๅบƒใ„QRSใงใ€QRSๆ™‚้–“ใฏ0.12็ง’ไปฅไธŠใจใชใ‚‹ใ€‚ๅคšใใฏ็‰น็™บๆ€งใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใ€‚่„šใƒ–ใƒญใƒƒใ‚ฏใฎใฟใงใฏๆฒป็™‚ใฎๅฟ…่ฆใฏใชใ„ใ€‚็‰น็™บไพ‹ใฎไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200215" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bundle branch block"@en, "่„šใƒ–ใƒญใƒƒใ‚ฏ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007240, mondo:MONDO_0020803 ; + rdfs:label "Bundle branch block"@en, "ใใ‚ƒใใถใ‚ใฃใ"@ja-Hira, "่„šใƒ–ใƒญใƒƒใ‚ฏ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020803 ; skos:prefLabel "่„šใƒ–ใƒญใƒƒใ‚ฏ"@ja . -:2200216 - :hasNotificationNumber "67" ; - terms:description "2็จฎ้กžไปฅไธŠใฎQRSๆณขๅฝขใฎๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ€‚ใปใจใ‚“ใฉใŒๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ไผดใ‚ใชใ„ใ€‚้‹ๅ‹•่ฒ ่ทใงๅ†็พๆ€งใ‚’ใ‚‚ใฃใฆ๏ผŒๅฟƒๅฎคๆ‹ๆ•ฐ200 ไปฅไธŠใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚„ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏใ€้‹ๅ‹•ๅˆถ้™ใŒๅฟ…่ฆใงใ€่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ๅ˜ๅฝขๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใจๆฏ”่ผƒใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใซ้–ขใ—ใฆใฏใ„ใพใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200216" ; - terms:source ; + + nando:hasNotificationNumber "67" ; + dcterms:description "2็จฎ้กžไปฅไธŠใฎQRSๆณขๅฝขใฎๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใ€‚ใปใจใ‚“ใฉใŒๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ไผดใ‚ใชใ„ใ€‚้‹ๅ‹•่ฒ ่ทใงๅ†็พๆ€งใ‚’ใ‚‚ใฃใฆ๏ผŒๅฟƒๅฎคๆ‹ๆ•ฐ200 ไปฅไธŠใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใ‚„ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏใ€้‹ๅ‹•ๅˆถ้™ใŒๅฟ…่ฆใงใ€่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ๅ˜ๅฝขๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใจๆฏ”่ผƒใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใจ่จ€ใ‚ใ‚Œใฆใ„ใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใซ้–ขใ—ใฆใฏใ„ใพใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200216" ; + dcterms:source ; a owl:Class ; - rdfs:label "Polymorphic ventricular premature beat"@en, "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ"@ja ; + rdfs:label "Polymorphic ventricular premature beat"@en, "ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใ—ใคใใŒใ„ใ—ใ‚…ใ†ใ—ใ‚…ใ"@ja-Hira, "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017990 ; skos:prefLabel "ๅคšๆบๆ€งๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎ"@ja . -:2200217 - :hasNotificationNumber "26" ; - terms:description "WPW็—‡ๅ€™็พคใฏฮ”ๆณขใ€PQๆ™‚้–“็Ÿญ็ธฎใ€QRSๅน…ใฎๅปถ้•ทใชใฉ็‰นๅพด็š„ใชๅฟƒ้›ปๅ›ณใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ไธŠๅฎค้ ปๆ‹ไธญใฎๅฟƒ้›ปๅ›ณใฏใปใจใ‚“ใฉใฎๅ ดๅˆๅน…ใฎ็‹ญใ„QRSๆณขใงใ€ไธ‹่จ˜ใซ่ฟฐในใ‚‹ใ‚ˆใ†ใซๆˆฟๅฎค็ต็ฏ€ใ‚’้ †ไผๅฐŽ๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคใธไผๅฐŽใ™ใ‚‹๏ผ‰ใ€ๅ‰ฏไผๅฐŽ่ทฏใ‚’้€†ไผๅฐŽ๏ผˆๅฟƒๅฎคใ‹ใ‚‰ๅฟƒๆˆฟใธ้€†ไผๅฐŽ๏ผ‰ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ—ใŸๅ ดๅˆใ€ๅฟƒๆˆฟ็ดฐๅ‹•ใซไผดใ†ๅฝๆ€งๅฟƒๅฎค้ ปๆ‹ใซใ‚ˆใ‚‹็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŒใ€WPW็—‡ๅ€™็พคใฎ1%ไปฅไธ‹ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ใใฎๅคšใใฏ10ไปฃไปฅๅพŒใงใ‚ใ‚‹ใ€‚้ ปๆ‹็™บไฝœใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ่–ฌ็‰ฉๆฒป็™‚ใพใŸใฏใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ใซไฝฟ็”จไธ่ƒฝใชๅ ดๅˆใพใŸใฏๆ‚ฃ่€…ใŒ่–ฌ็‰ฉๆฒป็™‚ใฎ็ถ™็ถšใ‚’ๆœ›ใพใชใ„ๅ ดๅˆใซใฏใ€้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ไธ€่ˆฌใฎๆญฃๅธธไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใ€‚"@ja ; - terms:identifier "2200217" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "WPW็—‡ๅ€™็พคใฏฮ”ๆณขใ€PQๆ™‚้–“็Ÿญ็ธฎใ€QRSๅน…ใฎๅปถ้•ทใชใฉ็‰นๅพด็š„ใชๅฟƒ้›ปๅ›ณใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ไธŠๅฎค้ ปๆ‹ไธญใฎๅฟƒ้›ปๅ›ณใฏใปใจใ‚“ใฉใฎๅ ดๅˆๅน…ใฎ็‹ญใ„QRSๆณขใงใ€ไธ‹่จ˜ใซ่ฟฐในใ‚‹ใ‚ˆใ†ใซๆˆฟๅฎค็ต็ฏ€ใ‚’้ †ไผๅฐŽ๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคใธไผๅฐŽใ™ใ‚‹๏ผ‰ใ€ๅ‰ฏไผๅฐŽ่ทฏใ‚’้€†ไผๅฐŽ๏ผˆๅฟƒๅฎคใ‹ใ‚‰ๅฟƒๆˆฟใธ้€†ไผๅฐŽ๏ผ‰ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ—ใŸๅ ดๅˆใ€ๅฟƒๆˆฟ็ดฐๅ‹•ใซไผดใ†ๅฝๆ€งๅฟƒๅฎค้ ปๆ‹ใซใ‚ˆใ‚‹็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใŒใ€WPW็—‡ๅ€™็พคใฎ1%ไปฅไธ‹ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ใใฎๅคšใใฏ10ไปฃไปฅๅพŒใงใ‚ใ‚‹ใ€‚้ ปๆ‹็™บไฝœใŒใ‚ใ‚‹ๅ ดๅˆใซใฏ่–ฌ็‰ฉๆฒป็™‚ใพใŸใฏใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ใซไฝฟ็”จไธ่ƒฝใชๅ ดๅˆใพใŸใฏๆ‚ฃ่€…ใŒ่–ฌ็‰ฉๆฒป็™‚ใฎ็ถ™็ถšใ‚’ๆœ›ใพใชใ„ๅ ดๅˆใซใฏใ€้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ไธ€่ˆฌใฎๆญฃๅธธไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200217" ; + dcterms:source ; a owl:Class ; - rdfs:label "Supraventricular tachycardia due to WPW syndrome"@en, "ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Supraventricular tachycardia due to WPW syndrome"@en, "ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ๏ผˆใ ใถใ‚‹ใดใƒผใ ใถใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใ‹ใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008685 ; skos:prefLabel "ไธŠๅฎค้ ปๆ‹๏ผˆWPW็—‡ๅ€™็พคใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200218 - :hasNotificationNumber "27" ; - terms:description "่ค‡ๆ•ฐใพใŸใฏๅบƒใ„็ฏ„ๅ›ฒใง็•ฐๅธธ่‡ชๅ‹•่ƒฝใฎไบข้€ฒใ‚„ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅไธ‹ใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚1๏ผŽ2ใ‚ซๆ‰€ไปฅไธŠใฎ็•ฐใชใฃใŸ้ƒจไฝใฎๅฟƒๆˆฟใ‹ใ‚‰้ ปๆ‹ใŒ็™บ็”Ÿใ™ใ‚‹๏ผŽๅ„ใ€…ใฎๅฟƒๆˆฟๆณขใฎๅฟƒๆˆฟ่ˆˆๅฅฎ้ †ไฝใ‚„ๅฟƒๆˆฟ้›ปไฝใŒ็•ฐใชใ‚‹๏ผŽๅคšใใฏnarrow QRSใงใ‚ใ‚‹ใŒใ€ๅฟƒๅฎคๅ†…ๅค‰่กŒไผๅฐŽใซใ‚ˆใ‚Š๏ผŒๅน…ๅบƒใ„QRSๆณขใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ2๏ผŽๅฟƒๆˆฟใƒšใƒผใ‚ทใƒณใ‚ฐใซใ‚ˆใ‚‹ไธๆ•ด่„ˆใฎ่ช˜็™บ๏ผŒๅœๆญขใฏใงใใชใ„๏ผŽ3๏ผŽ้ ปๆ‹ไธญใฎๅฟƒๆˆฟใฎ้ซ˜้ ปๅบฆๅˆบๆฟ€ใงใฏไธ€้Žๆ€งใซ้ ปๆ‹ใŒๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ ปๆ‹ใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใŒใคใ‘ใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้ ปๆ‹ใŒๆŒ็ถšใ™ใ‚Œใฐใ€้ ปๆ‹ไพๅญ˜ๆ€งๅฟƒ็ญ‹็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200218" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "่ค‡ๆ•ฐใพใŸใฏๅบƒใ„็ฏ„ๅ›ฒใง็•ฐๅธธ่‡ชๅ‹•่ƒฝใฎไบข้€ฒใ‚„ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅไธ‹ใฎ็‰นๅพดใ‚’ๆœ‰ใ™ใ‚‹ใ€‚1๏ผŽ2ใ‚ซๆ‰€ไปฅไธŠใฎ็•ฐใชใฃใŸ้ƒจไฝใฎๅฟƒๆˆฟใ‹ใ‚‰้ ปๆ‹ใŒ็™บ็”Ÿใ™ใ‚‹๏ผŽๅ„ใ€…ใฎๅฟƒๆˆฟๆณขใฎๅฟƒๆˆฟ่ˆˆๅฅฎ้ †ไฝใ‚„ๅฟƒๆˆฟ้›ปไฝใŒ็•ฐใชใ‚‹๏ผŽๅคšใใฏnarrow QRSใงใ‚ใ‚‹ใŒใ€ๅฟƒๅฎคๅ†…ๅค‰่กŒไผๅฐŽใซใ‚ˆใ‚Š๏ผŒๅน…ๅบƒใ„QRSๆณขใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ2๏ผŽๅฟƒๆˆฟใƒšใƒผใ‚ทใƒณใ‚ฐใซใ‚ˆใ‚‹ไธๆ•ด่„ˆใฎ่ช˜็™บ๏ผŒๅœๆญขใฏใงใใชใ„๏ผŽ3๏ผŽ้ ปๆ‹ไธญใฎๅฟƒๆˆฟใฎ้ซ˜้ ปๅบฆๅˆบๆฟ€ใงใฏไธ€้Žๆ€งใซ้ ปๆ‹ใŒๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ ปๆ‹ใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใŒใคใ‘ใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้ ปๆ‹ใŒๆŒ็ถšใ™ใ‚Œใฐใ€้ ปๆ‹ไพๅญ˜ๆ€งๅฟƒ็ญ‹็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200218" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multiple atrial tachycardia"@en, "ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹"@ja ; + rdfs:label "Multiple atrial tachycardia"@en, "ใŸใ’ใ‚“ใ›ใ„ใ—ใ‚“ใผใ†ใฒใ‚“ใฑใ"@ja-Hira, "ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005310, obo:MONDO_0005479 ; skos:prefLabel "ๅคšๆบๆ€งๅฟƒๆˆฟ้ ปๆ‹"@ja . -:2200219 - :hasNotificationNumber "28" ; - terms:description "ๆˆฟๅฎค็ต็ฏ€ใŠใ‚ˆใณใใฎๅ‘จๅ›ฒใฎๅฟƒๆˆฟ็ญ‹ใ‚’ไป‹ใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผๆ€ง้ ปๆ‹ใง๏ผŒไผๅฐŽ้€ŸๅบฆใŒ้€Ÿใ„้€ŸไผๅฐŽ่ทฏ๏ผˆfast pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้…ใ„้…ไผๅฐŽ่ทฏ๏ผˆslow pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้žๅธธใซ้…ใ„ไผๅฐŽ่ทฏ๏ผˆsuper slow pathway๏ผ‰ใŒ้ ปๆ‹ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚Slow-Fastๅž‹ใฎๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฏๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฎ80๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ใ€‚ใ“ใฎๅž‹ใฏใ€right posterior extensionใŒ้ †่กŒๆ€ง๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคๅดใธใฎไผๅฐŽ๏ผ‰ใฎ้…ไผๅฐŽ่ทฏใจ่จ€ใ‚ใ‚ŒใฆใŠใ‚Šใ€ใ“ใ“ใ‚’ไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒๆˆฟๅฎค็ต็ฏ€ใ‚’ไป‹ใ—ใฆleft posterior extensionใธไผๅฐŽใ™ใ‚‹ใ€‚ใ“ใฎ่ˆˆๅฅฎใฏใ€ๅทฆๆˆฟใจๅ† ้™่„ˆๆดž้–“ใฎmuscular connectionใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžใธไผๅฐŽใ—ใ€ๅ† ้™่„ˆๆดžๅ†…ใฎ็ญ‹ๆ€ง็ต„็น”ใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžๅ…ฅๅฃ้ƒจใซ่ˆˆๅฅฎใŒไผๅฐŽใ—ใ€ใ“ใ“ใ‹ใ‚‰right posterior extensionใธ่ˆˆๅฅฎใŒไผๅฐŽใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้€ŸไผๅฐŽ่ทฏใฏใ€ๆˆฟๅฎค็ต็ฏ€ใ‚‚ใ—ใใฏleft posterior extensionใฎไธ€้ƒจใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸใ€้…ไผๅฐŽ่ทฏใ‹ใ‚‰ๆˆฟๅฎค็ต็ฏ€ใธไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒใ€Kochไธ‰่ง’ใฎๅณๆˆฟๅดใ‚’ไผๅฐŽใ™ใ‚‹ใจใฎ่ชฌใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใฎ็™บ็—‡ใฏๅฐ‘ใชใใ€ๅนผๅ…ใ€ๅญฆ็ซฅใ€ๆ€ๆ˜ฅๆœŸใซใ‹ใ‘ใฆ้ ปๅบฆใฏๅข—ๅŠ ใ™ใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใฎ้ฉๅฟœใฏใ€ๅคฑ็ฅžใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚„ใ€่ปฝ็—‡็Šถใงใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ไผดใ†้ ปๆ‹็™บไฝœใฎๆ—ขๅพ€ใŒใ‚ใ‚‹ๅ ดๅˆใ€ใพใŸใฏใ€้ ปๆ‹็™บไฝœใŒใ‚ใ‚Š๏ผŒ่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ไฝฟ็”จไธ่ƒฝใพใŸใฏๆ‚ฃ่€…ใŒๆœ›ใพใชใ„ๅ ดๅˆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200219" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ๆˆฟๅฎค็ต็ฏ€ใŠใ‚ˆใณใใฎๅ‘จๅ›ฒใฎๅฟƒๆˆฟ็ญ‹ใ‚’ไป‹ใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผๆ€ง้ ปๆ‹ใง๏ผŒไผๅฐŽ้€ŸๅบฆใŒ้€Ÿใ„้€ŸไผๅฐŽ่ทฏ๏ผˆfast pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้…ใ„้…ไผๅฐŽ่ทฏ๏ผˆslow pathway๏ผ‰ใ€ไผๅฐŽ้€ŸๅบฆใŒ้žๅธธใซ้…ใ„ไผๅฐŽ่ทฏ๏ผˆsuper slow pathway๏ผ‰ใŒ้ ปๆ‹ใซ้–ขไธŽใ—ใฆใ„ใ‚‹ใ€‚Slow-Fastๅž‹ใฎๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฏๆˆฟๅฎค็ต็ฏ€ใƒชใ‚จใƒณใƒˆใƒชใƒผ้ ปๆ‹ใฎ80๏ผ…ไปฅไธŠใ‚’ๅ ใ‚ใ‚‹ใ€‚ใ“ใฎๅž‹ใฏใ€right posterior extensionใŒ้ †่กŒๆ€ง๏ผˆๅฟƒๆˆฟใ‹ใ‚‰ๅฟƒๅฎคๅดใธใฎไผๅฐŽ๏ผ‰ใฎ้…ไผๅฐŽ่ทฏใจ่จ€ใ‚ใ‚ŒใฆใŠใ‚Šใ€ใ“ใ“ใ‚’ไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒๆˆฟๅฎค็ต็ฏ€ใ‚’ไป‹ใ—ใฆleft posterior extensionใธไผๅฐŽใ™ใ‚‹ใ€‚ใ“ใฎ่ˆˆๅฅฎใฏใ€ๅทฆๆˆฟใจๅ† ้™่„ˆๆดž้–“ใฎmuscular connectionใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžใธไผๅฐŽใ—ใ€ๅ† ้™่„ˆๆดžๅ†…ใฎ็ญ‹ๆ€ง็ต„็น”ใ‚’ไป‹ใ—ใฆๅ† ้™่„ˆๆดžๅ…ฅๅฃ้ƒจใซ่ˆˆๅฅฎใŒไผๅฐŽใ—ใ€ใ“ใ“ใ‹ใ‚‰right posterior extensionใธ่ˆˆๅฅฎใŒไผๅฐŽใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้€ŸไผๅฐŽ่ทฏใฏใ€ๆˆฟๅฎค็ต็ฏ€ใ‚‚ใ—ใใฏleft posterior extensionใฎไธ€้ƒจใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใพใŸใ€้…ไผๅฐŽ่ทฏใ‹ใ‚‰ๆˆฟๅฎค็ต็ฏ€ใธไผๅฐŽใ—ใŸ่ˆˆๅฅฎใŒใ€Kochไธ‰่ง’ใฎๅณๆˆฟๅดใ‚’ไผๅฐŽใ™ใ‚‹ใจใฎ่ชฌใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใฎ็™บ็—‡ใฏๅฐ‘ใชใใ€ๅนผๅ…ใ€ๅญฆ็ซฅใ€ๆ€ๆ˜ฅๆœŸใซใ‹ใ‘ใฆ้ ปๅบฆใฏๅข—ๅŠ ใ™ใ‚‹ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใฎ้ฉๅฟœใฏใ€ๅคฑ็ฅžใชใฉใฎ้‡็ฏคใช็—‡็Šถใ‚„ใ€่ปฝ็—‡็Šถใงใ‚‚QOLใฎ่‘—ใ—ใ„ไฝŽไธ‹ใ‚’ไผดใ†้ ปๆ‹็™บไฝœใฎๆ—ขๅพ€ใŒใ‚ใ‚‹ๅ ดๅˆใ€ใพใŸใฏใ€้ ปๆ‹็™บไฝœใŒใ‚ใ‚Š๏ผŒ่–ฌ็‰ฉๆฒป็™‚ใŒ็„กๅŠนใพใŸใฏๅ‰ฏไฝœ็”จใฎใŸใ‚ไฝฟ็”จไธ่ƒฝใพใŸใฏๆ‚ฃ่€…ใŒๆœ›ใพใชใ„ๅ ดๅˆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200219" ; + dcterms:source ; a owl:Class ; - rdfs:label "6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹"@ja, "Other Supraventricular tachycardia"@en ; + rdfs:label "6ใŠใ‚ˆใณ7ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚‡ใ†ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹"@ja, "Other supraventricular tachycardia"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "6ๅŠใณ7ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไธŠๅฎค้ ปๆ‹"@ja . -:2200220 - :hasNotificationNumber "33" ; - terms:description "ๅทฆ่„šๅพŒๆž้ ˜ๅŸŸใ‚’ๅˆฉ็”จใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผใซใ‚ˆใ‚‹ๅฟƒๅฎค้ ปๆ‹ใ€‚ๅทฆ่„šๅพŒๆž่ฟ‘ๅ‚ใฎ้ƒจไฝใซslow conductionใ‚’่ตทใ“ใ™้ƒจไฝใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅทฆๅฎคๅ†…ใซๅญ˜ๅœจใ™ใ‚‹false tendonใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใฎslow conductionใ‚’ใŠใ“ใ™้ƒจไฝใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ‹ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚’่กŒใ†ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ๅฅๅธธๆˆไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใฎ่ฆณๅฏŸใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200220" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ๅทฆ่„šๅพŒๆž้ ˜ๅŸŸใ‚’ๅˆฉ็”จใ™ใ‚‹ใƒชใ‚จใƒณใƒˆใƒชใƒผใซใ‚ˆใ‚‹ๅฟƒๅฎค้ ปๆ‹ใ€‚ๅทฆ่„šๅพŒๆž่ฟ‘ๅ‚ใฎ้ƒจไฝใซslow conductionใ‚’่ตทใ“ใ™้ƒจไฝใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅทฆๅฎคๅ†…ใซๅญ˜ๅœจใ™ใ‚‹false tendonใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใฎslow conductionใ‚’ใŠใ“ใ™้ƒจไฝใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ‹ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚’่กŒใ†ใ€‚้ซ˜ๅ‘จๆณขใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒๆˆๅŠŸใ—ใŸๅ ดๅˆใซใฏใ€ๅฅๅธธๆˆไบบใจไบˆๅพŒใฏๅค‰ใ‚ใ‚‰ใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€้•ทๆœŸไบˆๅพŒใฎ่ฆณๅฏŸใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200220" ; + dcterms:source ; a owl:Class ; - rdfs:label "Verapamil sensitive ventricular tachycardia"@en, "ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; + rdfs:label "Verapamil sensitive ventricular tachycardia"@en, "ในใ‚‰ใฑใฟใ‚‹ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ใƒ™ใƒฉใƒ‘ใƒŸใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja . -:2200221 - :hasNotificationNumber "32" ; - terms:description "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹(catecholaminergic polymorphic ventricular tachycardia: CPVT) ใฏใ€้‹ๅ‹•ใ‚„ๆƒ…ๅ‹•ใฎๅค‰ๅŒ–ใ€ใ‚ใ‚‹ใ„ใฏใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณๆŠ•ไธŽใงใ€ไบŒๆ–นๅ‘ๆ€งใ‚ใ‚‹ใ„ใฏๅคšๅฝขๆ€งใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ€ๅฟƒๅฎค็ดฐๅ‹•ใซ็งป่กŒใ—ใฆๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™่‡ดๆญป็š„ไธๆ•ด่„ˆใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใ€‚ใƒชใ‚ขใƒŽใ‚ธใƒณๅ—ๅฎนไฝ“RyR2 ใ‚„calsequestrin 2 (CASQ2)ใฎ้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅฐ่ƒžไฝ“ใ‹ใ‚‰ๅคง้‡ใฎCa2+ๆ”พๅ‡บใŒใŠใ“ใ‚Šใ€ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใ‚’ๆฉŸๅบใจใ™ใ‚‹ๅฟƒๅฎค้ ปๆ‹ใŒ่ตทใ“ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌๅ‰คๆŠ•ไธŽใ‚’่กŒใชใ‚ใชใ‹ใฃใŸๅ ดๅˆๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚‹ใ€‚่–ฌๅ‰คๆฒป็™‚ใ‚’่กŒใชใฃใฆใ‚‚10ๅนดใง15ใ‹ใ‚‰40%ๆญปไบกใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200221" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹(catecholaminergic polymorphic ventricular tachycardia: CPVT) ใฏใ€้‹ๅ‹•ใ‚„ๆƒ…ๅ‹•ใฎๅค‰ๅŒ–ใ€ใ‚ใ‚‹ใ„ใฏใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณๆŠ•ไธŽใงใ€ไบŒๆ–นๅ‘ๆ€งใ‚ใ‚‹ใ„ใฏๅคšๅฝขๆ€งใฎๅฟƒๅฎค้ ปๆ‹ใŒ่ช˜็™บใ•ใ‚Œใ€ๅฟƒๅฎค็ดฐๅ‹•ใซ็งป่กŒใ—ใฆๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™่‡ดๆญป็š„ไธๆ•ด่„ˆใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๆฅตใ‚ใฆ็จ€ใช็–พๆ‚ฃใ€‚ใƒชใ‚ขใƒŽใ‚ธใƒณๅ—ๅฎนไฝ“RyR2 ใ‚„calsequestrin 2 (CASQ2)ใฎ้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ญ‹ๅฐ่ƒžไฝ“ใ‹ใ‚‰ๅคง้‡ใฎCa2+ๆ”พๅ‡บใŒใŠใ“ใ‚Šใ€ใƒˆใƒชใ‚ฌใƒผใƒ‰ใ‚ขใ‚ฏใƒ†ใ‚ฃใƒ“ใƒ†ใ‚ฃใƒผใ‚’ๆฉŸๅบใจใ™ใ‚‹ๅฟƒๅฎค้ ปๆ‹ใŒ่ตทใ“ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌๅ‰คๆŠ•ไธŽใ‚’่กŒใชใ‚ใชใ‹ใฃใŸๅ ดๅˆๆฅตใ‚ใฆไธ่‰ฏใงใ‚ใ‚‹ใ€‚่–ฌๅ‰คๆฒป็™‚ใ‚’่กŒใชใฃใฆใ‚‚10ๅนดใง15ใ‹ใ‚‰40%ๆญปไบกใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200221" ; + dcterms:source ; a owl:Class ; - rdfs:label "Catecholaminergic polymorphic ventricular tachycardia"@en, "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Catecholaminergic polymorphic ventricular tachycardia"@en, "ใ‹ใฆใ“ใ‚‰ใฟใ‚“ใ‚†ใ†ใฏใคใŸใ‘ใ„ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CPVT"@en ; - skos:closeMatch mondo:MONDO_0017990 ; + skos:closeMatch obo:MONDO_0017990 ; skos:prefLabel "ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹"@ja . -:2200222 - :hasNotificationNumber "34" ; - terms:description "ๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Šใ€็จ€ใซๅทฆๅฎคๆตๅ‡บ่ทฏใ‚„ใ€ๅทฆๅ† ๅฐ–ใ€่‚บๅ‹•่„ˆ่ตทๆบใชใฉใŒใ‚ใ‚‹ใ€‚ไปฅไธ‹ใฎๆฉŸๅบใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚โ‘ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆadenosine sensitive VT๏ผ‰้‹ๅ‹•่ช˜็™บๆ€งใฎใ‚‚ใฎใจ๏ผŒๅๅพฉๆ€งใงๆ•ฐๆ‹ใฎๆดž่ชฟๅพ‹ใ‚’ๆŒŸใ‚“ใงไธ€ๆ—ฅไธญ้ ปๆ‹ใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚‚ใฎใจใŒใ‚ใ‚‹๏ผŽๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Š๏ผŒๅทฆๅฎค่ตทๆบใฎใ‚‚ใฎใฏ10%็จ‹ๅบฆใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹๏ผŽcAMPใฎ้–ขไธŽใ™ใ‚‹ๆฟ€็™บๆดปๅ‹•ใจใ•ใ‚Œใฆใ„ใ‚‹๏ผŽใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATP๏ผŒใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ™ใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บ๏ผŒๅœๆญขใŒๅฏ่ƒฝใงใ‚ใ‚Š๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„โ‘กใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆpropranolol sensitive VT๏ผ‰ๅณๅฎค๏ผŒ็จ€ใซๅทฆๅฎค่ตทๆบใงใ‚ใ‚Š๏ผŒใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๆ€ง่‡ชๅ‹•่ƒฝใŒๆฉŸๅบใงใ‚ใ‚‹๏ผŽVTใฏใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ›ใš๏ผŒใจใใซใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATPใงๆŠ‘ๅˆถใ•ใ‚Œ๏ผŒใ‚คใ‚ฝใƒ—ใƒญใƒ†ใƒฌใƒŽใƒผใƒซๆŠ•ไธŽ๏ผŒ้‹ๅ‹•ใง่ช˜็™บใ•ใ‚Œใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บใ‚‚ๅœๆญขใ‚‚ใ•ใ‚Œใš๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„๏ผŽ็ช็„ถๆญปใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใŒใ€็จ€ใซๆตๅ‡บ่ทฏๅž‹ๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’ๅฅ‘ๆฉŸใซๅฟƒๅฎค็ดฐๅ‹•ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200222" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:description "ๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Šใ€็จ€ใซๅทฆๅฎคๆตๅ‡บ่ทฏใ‚„ใ€ๅทฆๅ† ๅฐ–ใ€่‚บๅ‹•่„ˆ่ตทๆบใชใฉใŒใ‚ใ‚‹ใ€‚ไปฅไธ‹ใฎๆฉŸๅบใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚โ‘ ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆadenosine sensitive VT๏ผ‰้‹ๅ‹•่ช˜็™บๆ€งใฎใ‚‚ใฎใจ๏ผŒๅๅพฉๆ€งใงๆ•ฐๆ‹ใฎๆดž่ชฟๅพ‹ใ‚’ๆŒŸใ‚“ใงไธ€ๆ—ฅไธญ้ ปๆ‹ใ‚’็นฐใ‚Š่ฟ”ใ™ใ‚‚ใฎใจใŒใ‚ใ‚‹๏ผŽๅคšใใฏๅณๅฎคๆตๅ‡บ่ทฏ่ตทๆบใงใ‚ใ‚Š๏ผŒๅทฆๅฎค่ตทๆบใฎใ‚‚ใฎใฏ10%็จ‹ๅบฆใจใ„ใ‚ใ‚Œใฆใ„ใ‚‹๏ผŽcAMPใฎ้–ขไธŽใ™ใ‚‹ๆฟ€็™บๆดปๅ‹•ใจใ•ใ‚Œใฆใ„ใ‚‹๏ผŽใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATP๏ผŒใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ™ใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บ๏ผŒๅœๆญขใŒๅฏ่ƒฝใงใ‚ใ‚Š๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„โ‘กใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹๏ผˆpropranolol sensitive VT๏ผ‰ๅณๅฎค๏ผŒ็จ€ใซๅทฆๅฎค่ตทๆบใงใ‚ใ‚Š๏ผŒใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๆ€ง่‡ชๅ‹•่ƒฝใŒๆฉŸๅบใงใ‚ใ‚‹๏ผŽVTใฏใƒ™ใƒฉใƒ‘ใƒŸใƒซใงๅœๆญขใ›ใš๏ผŒใจใใซใ‚ขใƒ‡ใƒŽใ‚ทใƒณ๏ผŒATPใงๆŠ‘ๅˆถใ•ใ‚Œ๏ผŒใ‚คใ‚ฝใƒ—ใƒญใƒ†ใƒฌใƒŽใƒผใƒซๆŠ•ไธŽ๏ผŒ้‹ๅ‹•ใง่ช˜็™บใ•ใ‚Œใ‚‹๏ผŽ้›ปๆฐ—็”Ÿ็†ๅญฆ็š„ๆคœๆŸปใงใฏ๏ผŒๅˆบๆฟ€ใง่ช˜็™บใ‚‚ๅœๆญขใ‚‚ใ•ใ‚Œใš๏ผŒentrainment็พ่ฑกใ‚’่ชใ‚ใชใ„๏ผŽ็ช็„ถๆญปใฏๆฏ”่ผƒ็š„ๅฐ‘ใชใ„ใŒใ€็จ€ใซๆตๅ‡บ่ทฏๅž‹ๅฟƒๅฎคๆœŸๅค–ๅŽ็ธฎใ‚’ๅฅ‘ๆฉŸใซๅฟƒๅฎค็ดฐๅ‹•ใŒ่ช˜็™บใ•ใ‚Œใ‚‹ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ‚„ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200222" ; + dcterms:source ; a owl:Class ; - rdfs:label "9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹"@ja, "Other Ventricular tachycardia"@en ; + rdfs:label "9ใŠใ‚ˆใณ10ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹"@ja, "Other ventricular tachycardia"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "9ๅŠใณ10ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅฟƒๅฎค้ ปๆ‹"@ja . -:2200223 - :hasNotificationNumber "34" ; - terms:identifier "2200223" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:2200223" ; + dcterms:source ; a owl:Class ; - rdfs:label "adenosine sensitive VT"@en, "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; + rdfs:label "Adenosine sensitive VT"@en, "ใ‚ใงใฎใ—ใ‚“ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Adenosine-sensitive ventricular tachycardia"@en, "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งVT"@ja ; skos:prefLabel "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja . -:2200224 - :hasNotificationNumber "34" ; - terms:identifier "2200224" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:2200224" ; + dcterms:source ; a owl:Class ; - rdfs:label "propranolol sensitive VT"@en, "ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; + rdfs:label "Propranolol sensitive VT"@en, "ใทใ‚ใทใ‚‰ใฎใ‚ใƒผใ‚‹ใ‹ใ‚“ใ˜ใ‚…ใ›ใ„ใ—ใ‚“ใ—ใคใฒใ‚“ใฑใ"@ja-Hira, "ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ใƒ—ใƒญใƒ—ใƒฉใƒŽใƒญใƒผใƒซๆ„Ÿๅ—ๆ€งๅฟƒๅฎค้ ปๆ‹"@ja . -:2200225 - :hasNotificationNumber "47" ; - terms:description "ๅฟƒๆˆฟๅ†…ใฎใƒžใ‚ฏใƒญใƒชใ‚จใƒณใƒˆใƒชใƒผใงใ‚ใ‚Šใ€้€šๅธธๅž‹ใงใฏไธ‰ๅฐ–ๅผๅ‘จๅ›ฒใ‚’ๅๆ™‚่จˆๅ›ž่ปขๆ–นๅ‘ใ‚‚ใ—ใใฏๅๆ™‚่จˆๆ–นๅ‘ใซ๏ผŒ้ž้€šๅธธๅž‹ใงใฏใใ‚Œไปฅๅค–ใฎๅ›ž่ทฏใ‚’ๅˆฉ็”จใ™ใ‚‹๏ผŽ้€šๅธธๅž‹ใฏไธŠๅคง้™่„ˆ๏ผŒๅˆ†็•Œ็จœใ€ไธ‹ๅคง้™่„ˆใ€Eustachianๅผใ€ๅ† ้™่„ˆๆดžใŒ่งฃๅ‰–ๅญฆ็š„้šœๅฃใจใชใ‚Šใ€ใใฎๅค–ๅดใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใจใชใ‚‹๏ผŽ็ทฉๅพไผๅฐŽใฏใชใ„ใŒ๏ผŒไธ‹ๅคง้™่„ˆโ”€ไธ‰ๅฐ–ๅผ่ผชๅณฝ้ƒจ(cavo-tricuspid isthmus: CTI)ใŒๅ…ฑ้€šใฎๅ›ž่ทฏใงใ‚ใ‚‹๏ผŽๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„ไพ‹ใฎ็™บ็”Ÿ้ ปๅบฆใฏๆฅตใ‚ใฆๅฐ‘ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ้™ๅฎšใ—ใฆ่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚1๏ผš1ๆˆฟๅฎคไผๅฐŽใ‚’ใใŸใ™ใจๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚้•ทๆœŸใซๅฟƒๆˆฟ็ฒ—ๅ‹•ใŒ็ถšใใจใ€ๅฟƒ็ญ‹็—‡๏ผˆๅฟƒๆฉŸ่ƒฝไธๅ…จ๏ผ‰ใ€่ก€ๆ “ใ€ๅกžๆ “็—‡ใฎๅŽŸๅ› ใจใชใ‚Šใ†ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200225" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "ๅฟƒๆˆฟๅ†…ใฎใƒžใ‚ฏใƒญใƒชใ‚จใƒณใƒˆใƒชใƒผใงใ‚ใ‚Šใ€้€šๅธธๅž‹ใงใฏไธ‰ๅฐ–ๅผๅ‘จๅ›ฒใ‚’ๅๆ™‚่จˆๅ›ž่ปขๆ–นๅ‘ใ‚‚ใ—ใใฏๅๆ™‚่จˆๆ–นๅ‘ใซ๏ผŒ้ž้€šๅธธๅž‹ใงใฏใใ‚Œไปฅๅค–ใฎๅ›ž่ทฏใ‚’ๅˆฉ็”จใ™ใ‚‹๏ผŽ้€šๅธธๅž‹ใฏไธŠๅคง้™่„ˆ๏ผŒๅˆ†็•Œ็จœใ€ไธ‹ๅคง้™่„ˆใ€Eustachianๅผใ€ๅ† ้™่„ˆๆดžใŒ่งฃๅ‰–ๅญฆ็š„้šœๅฃใจใชใ‚Šใ€ใใฎๅค–ๅดใŒใƒชใ‚จใƒณใƒˆใƒชใƒผๅ›ž่ทฏใจใชใ‚‹๏ผŽ็ทฉๅพไผๅฐŽใฏใชใ„ใŒ๏ผŒไธ‹ๅคง้™่„ˆโ”€ไธ‰ๅฐ–ๅผ่ผชๅณฝ้ƒจ(cavo-tricuspid isthmus: CTI)ใŒๅ…ฑ้€šใฎๅ›ž่ทฏใงใ‚ใ‚‹๏ผŽๅ™จ่ณช็š„ๅฟƒ็–พๆ‚ฃใ‚’ๆŒใŸใชใ„ไพ‹ใฎ็™บ็”Ÿ้ ปๅบฆใฏๆฅตใ‚ใฆๅฐ‘ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซ้™ๅฎšใ—ใฆ่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚1๏ผš1ๆˆฟๅฎคไผๅฐŽใ‚’ใใŸใ™ใจๅคฑ็ฅžใ€็ช็„ถๆญปใ‚’่ตทใ“ใ™ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚้•ทๆœŸใซๅฟƒๆˆฟ็ฒ—ๅ‹•ใŒ็ถšใใจใ€ๅฟƒ็ญ‹็—‡๏ผˆๅฟƒๆฉŸ่ƒฝไธๅ…จ๏ผ‰ใ€่ก€ๆ “ใ€ๅกžๆ “็—‡ใฎๅŽŸๅ› ใจใชใ‚Šใ†ใ‚‹ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200225" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atrial flutter"@en, "ๅฟƒๆˆฟ็ฒ—ๅ‹•"@ja ; + rdfs:label "Atrial flutter"@en, "ใ—ใ‚“ใผใ†ใใฉใ†"@ja-Hira, "ๅฟƒๆˆฟ็ฒ—ๅ‹•"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005310 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005310 ; skos:prefLabel "ๅฟƒๆˆฟ็ฒ—ๅ‹•"@ja . -:2200226 - :hasNotificationNumber "46" ; - terms:description "ๅฟƒๆˆฟใŒ็„ก็งฉๅบ้ซ˜้ ปๅบฆใซ่ˆˆๅฅฎใ™ใ‚‹ไธๆ•ด่„ˆใงใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใชใฉๅฟƒๆˆฟ็ญ‹ใซ่ฒ ๆ‹…ใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚ๅฐๅ…ใ‚„่‹ฅๅนด่€…ใซใŠใ„ใฆๅŸบ็คŽๅฟƒ็–พๆ‚ฃใฎใชใ„ๅญค็ซ‹ๆ€งๅฟƒๆˆฟ็ดฐๅ‹•ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๆดž่ชฟๅพ‹ใซๆˆปใ‚‰ใชใ‘ใ‚Œใฐ็›ดๆต้€š้›ปใ™ใ‚‹ใ€‚้ ปๅ›žใฎๅ ดๅˆใ‚„ๆŒ็ถšๆ€งใฎใ‚‚ใฎใฏ่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใฃใฆ่ฆๅฎšใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งใฎใ‚‚ใฎใฏใ€่ก€ๆ “ๅกžๆ “็—‡ใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200226" ; - terms:source ; + + nando:hasNotificationNumber "46" ; + dcterms:description "ๅฟƒๆˆฟใŒ็„ก็งฉๅบ้ซ˜้ ปๅบฆใซ่ˆˆๅฅฎใ™ใ‚‹ไธๆ•ด่„ˆใงใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ่ก“ๅพŒใชใฉๅฟƒๆˆฟ็ญ‹ใซ่ฒ ๆ‹…ใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚ๅฐๅ…ใ‚„่‹ฅๅนด่€…ใซใŠใ„ใฆๅŸบ็คŽๅฟƒ็–พๆ‚ฃใฎใชใ„ๅญค็ซ‹ๆ€งๅฟƒๆˆฟ็ดฐๅ‹•ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๆดž่ชฟๅพ‹ใซๆˆปใ‚‰ใชใ‘ใ‚Œใฐ็›ดๆต้€š้›ปใ™ใ‚‹ใ€‚้ ปๅ›žใฎๅ ดๅˆใ‚„ๆŒ็ถšๆ€งใฎใ‚‚ใฎใฏ่–ฌ็‰ฉๆฒป็™‚ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใฃใฆ่ฆๅฎšใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งใฎใ‚‚ใฎใฏใ€่ก€ๆ “ๅกžๆ “็—‡ใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200226" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atrial fibrillation"@en, "ๅฟƒๆˆฟ็ดฐๅ‹•"@ja ; + rdfs:label "Atrial fibrillation"@en, "ใ—ใ‚“ใผใ†ใ•ใ„ใฉใ†"@ja-Hira, "ๅฟƒๆˆฟ็ดฐๅ‹•"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004981 ; + rdfs:subClassOf ; + skos:altLabel "AF"@en ; + skos:closeMatch obo:MONDO_0004981 ; skos:prefLabel "ๅฟƒๆˆฟ็ดฐๅ‹•"@ja . -:2200227 - :hasNotificationNumber "30" ; - terms:description "ๅฟƒๅฎคใŒ็„ก็งฉๅบใซ่ˆˆๅฅฎใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ€ๅฟƒ้›ปๅ›ณใงใฏๅŸบ็ทšใฎ็ดฐใ‹ใ„ๆบใ‚Œใจใ—ใฆ่จ˜้Œฒใ•ใ‚Œใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚Œใฐๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใซใฏQTๅปถ้•ท็—‡ๅ€™็พคใ€Brugada็—‡ๅ€™็พคใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€QT็Ÿญ็ธฎ็—‡ๅ€™็พคใ‚‚ๅซใ‚ใ‚‹ใŒใ€็‰น็™บๆ€งๅฟƒๅฎค็ดฐๅ‹•ใฏใ“ใ‚Œใ‚‰ใ‚’้™คใ„ใŸๅฟƒๅฎค็ดฐๅ‹•ใงใ€่ฟ‘ๅนดๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€Jๆณข็—‡ๅ€™็พค๏ผˆๆ—ฉๆœŸๅ†ๅˆ†ๆฅต็—‡ๅ€™็พค๏ผ‰ใŒใใฎ็ฏ„็–‡ใซๅ…ฅใ‚‹ใ€‚้ ปๆ‹ใฎไบˆ้˜ฒใฏใ‚ขใƒŸใ‚ชใƒ€ใƒญใƒณๅ†…ๆœใ€ๅŠใณICDๆค่พผใฟใงใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€ใฏใฃใใ‚Šใ—ใŸไบˆๅพŒใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200227" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "ๅฟƒๅฎคใŒ็„ก็งฉๅบใซ่ˆˆๅฅฎใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ€ๅฟƒ้›ปๅ›ณใงใฏๅŸบ็ทšใฎ็ดฐใ‹ใ„ๆบใ‚Œใจใ—ใฆ่จ˜้Œฒใ•ใ‚Œใ‚‹ใ€‚ๆŒ็ถšใ™ใ‚Œใฐๆญปไบกใ™ใ‚‹ใ€‚ๅบƒ็พฉใซใฏQTๅปถ้•ท็—‡ๅ€™็พคใ€Brugada็—‡ๅ€™็พคใ€ใ‚ซใƒ†ใ‚ณใƒฉใƒŸใƒณ่ช˜็™บๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€QT็Ÿญ็ธฎ็—‡ๅ€™็พคใ‚‚ๅซใ‚ใ‚‹ใŒใ€็‰น็™บๆ€งๅฟƒๅฎค็ดฐๅ‹•ใฏใ“ใ‚Œใ‚‰ใ‚’้™คใ„ใŸๅฟƒๅฎค็ดฐๅ‹•ใงใ€่ฟ‘ๅนดๆณจ็›ฎใ•ใ‚Œใฆใ„ใ‚‹ใ€Jๆณข็—‡ๅ€™็พค๏ผˆๆ—ฉๆœŸๅ†ๅˆ†ๆฅต็—‡ๅ€™็พค๏ผ‰ใŒใใฎ็ฏ„็–‡ใซๅ…ฅใ‚‹ใ€‚้ ปๆ‹ใฎไบˆ้˜ฒใฏใ‚ขใƒŸใ‚ชใƒ€ใƒญใƒณๅ†…ๆœใ€ๅŠใณICDๆค่พผใฟใงใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใฏใ‚ใ‚‹ใŒใ€ใฏใฃใใ‚Šใ—ใŸไบˆๅพŒใฏๆœชใ ไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200227" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ventricular fibrillation"@en, "ๅฟƒๅฎค็ดฐๅ‹•"@ja ; + rdfs:label "Ventricular fibrillation"@en, "ใ—ใ‚“ใ—ใคใ•ใ„ใฉใ†"@ja-Hira, "ๅฟƒๅฎค็ดฐๅ‹•"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000190 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000190 ; skos:prefLabel "ๅฟƒๅฎค็ดฐๅ‹•"@ja . -:2200228 - :hasNotificationNumber "14" ; - terms:description "QTๆ™‚้–“ใŒๅปถ้•ทใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€torsade de pointesใจๅ‘ผใฐใ‚Œใ‚‹ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€ๅฟƒๅฎค็ดฐๅ‹•ใชใฉใŒ่ช˜็™บใ•ใ‚Œใ€็ช็„ถๆญปใฎๅฑ้™บใฎใ‚ใ‚‹ๅฟƒ้›ปๅ›ณ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎRomano-Ward็—‡ๅ€™็พคใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎJervel-Lange-Nielsen็—‡ๅ€™็พคใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œ13็จฎ้กžใ€3็จฎ้กžใฎ้บไผๅญ็•ฐๅธธใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ‰็—‡็Šถไพ‹ใ‚„ใƒใ‚คใƒชใ‚นใ‚ฏไพ‹ใงใฏๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200228" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "QTๆ™‚้–“ใŒๅปถ้•ทใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€torsade de pointesใจๅ‘ผใฐใ‚Œใ‚‹ๅคšๅฝขๆ€งๅฟƒๅฎค้ ปๆ‹ใ€ๅฟƒๅฎค็ดฐๅ‹•ใชใฉใŒ่ช˜็™บใ•ใ‚Œใ€็ช็„ถๆญปใฎๅฑ้™บใฎใ‚ใ‚‹ๅฟƒ้›ปๅ›ณ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎRomano-Ward็—‡ๅ€™็พคใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎJervel-Lange-Nielsen็—‡ๅ€™็พคใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚Œ13็จฎ้กžใ€3็จฎ้กžใฎ้บไผๅญ็•ฐๅธธใŒ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœ‰็—‡็Šถไพ‹ใ‚„ใƒใ‚คใƒชใ‚นใ‚ฏไพ‹ใงใฏๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200228" ; + dcterms:source ; a owl:Class ; - rdfs:label "Long qt syndrome"@en, "QTๅปถ้•ท็—‡ๅ€™็พค"@ja ; + rdfs:label "Long qt syndrome"@en, "QTๅปถ้•ท็—‡ๅ€™็พค"@ja, "ใใ‚…ใƒผใฆใƒใƒผใˆใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "LQTS"@en ; - skos:closeMatch mondo:MONDO_0002442 ; + skos:closeMatch obo:MONDO_0002442, obo:MONDO_0019171 ; skos:prefLabel "QTๅปถ้•ท็—‡ๅ€™็พค"@ja . -:2200229 - :hasNotificationNumber "88" ; - terms:description "ๆ˜Žใ‚‰ใ‹ใชๅฟƒ่‚ฅๅคงใ‚’ใใŸใ™ๅŽŸๅ› ็„กใๅฟƒๅฎคๅฃใฎ่‚ฅๅŽšใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅŽšใ‚’็คบใ™ใ€‚ๅทฆๅฎคใฎๆ‹กๅผตใฏใชใใ€ๅทฆๅฎคๅŽ็ธฎใฏๆญฃๅธธใ‹ไบข้€ฒใ—ใฆใ„ใ‚‹ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ้Œฏ็ถœ้…ๅˆ—ใ‚’ใจใ‚‚ใชใ†่‚ฅๅคงใ‚’็คบใ™ใ€‚ๅทฆๅฎคๆตๅ‡บ่ทฏใฎ็ญ‹่‚‰ใŒ่‚ฅๅŽšใ™ใ‚Œใฐใ€่‚ฅๅคงๅž‹้–‰ๅกžๆ€งๅฟƒ็ญ‹็—‡ใฎๅž‹ใจใชใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ๅทฆๅฎคๆ‹กๅผต้šœๅฎณใซใ‚ˆใ‚‹ๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใธใฎ็งป่กŒใซใ‚ˆใ‚‹ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200229" ; - terms:source ; - a owl:Class ; - rdfs:label "Hypertrophic cardiomyopathy"@en, "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005045 ; + + nando:hasNotificationNumber "88" ; + dcterms:description "ๆ˜Žใ‚‰ใ‹ใชๅฟƒ่‚ฅๅคงใ‚’ใใŸใ™ๅŽŸๅ› ็„กใๅฟƒๅฎคๅฃใฎ่‚ฅๅŽšใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฎ้žๅฏพ็งฐๆ€ง่‚ฅๅŽšใ‚’็คบใ™ใ€‚ๅทฆๅฎคใฎๆ‹กๅผตใฏใชใใ€ๅทฆๅฎคๅŽ็ธฎใฏๆญฃๅธธใ‹ไบข้€ฒใ—ใฆใ„ใ‚‹ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ้Œฏ็ถœ้…ๅˆ—ใ‚’ใจใ‚‚ใชใ†่‚ฅๅคงใ‚’็คบใ™ใ€‚ๅทฆๅฎคๆตๅ‡บ่ทฏใฎ็ญ‹่‚‰ใŒ่‚ฅๅŽšใ™ใ‚Œใฐใ€่‚ฅๅคงๅž‹้–‰ๅกžๆ€งๅฟƒ็ญ‹็—‡ใฎๅž‹ใจใชใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ๅทฆๅฎคๆ‹กๅผต้šœๅฎณใซใ‚ˆใ‚‹ๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใธใฎ็งป่กŒใซใ‚ˆใ‚‹ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200229" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypertrophic cardiomyopathy"@en, "ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HCM"@en ; + skos:closeMatch obo:MONDO_0005045 ; skos:prefLabel "่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:2200230 - :hasNotificationNumber "91" ; - terms:description "ๅŽŸๅ› ไธๆ˜Žใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅค‰ๆ€งใ€่„‚่‚ชๆตธๆฝคใ€็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ๅณๅฎคใฎๆ‹กๅคงใ‚„ๅŽ็ธฎไธๅ…จใ€ๅณๅฎค่ตทๆบใฎๅฟƒๅฎคๆ€งไธๆ•ด่„ˆใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธๆ•ด่„ˆใจๅฟƒไธๅ…จใซๅฏพใ™ใ‚‹ๆฒป็™‚ใ‚’ใŠใ“ใชใ†ใ€‚ๆŒ็ถšๆ€งๅฟƒๅฎค้ ปๆ‹ใ‚„ๅฟƒๅฎค็ดฐๅ‹•ใชใฉไธๆ•ด่„ˆใซๅฏพใ™ใ‚‹ๆฒป็™‚ใฏใ€่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆคใˆ่พผใฟๅž‹้™ค็ดฐๅ‹•ๅ™จ๏ผˆICD๏ผ‰,ใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งๅฟƒไธๅ…จ็—‡็Šถใซๅฏพใ—ใฆใฏใ€ๆŠ—ๅฟƒไธๅ…จ่–ฌ็‰ฉ็™‚ๆณ•ใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใซๅๅฟœใ—ใชใ„ๅ ดๅˆใซใฏใ€ๅฟƒ่‡“็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200230" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:description "ๅŽŸๅ› ไธๆ˜Žใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅค‰ๆ€งใ€่„‚่‚ชๆตธๆฝคใ€็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ—ใ€ๅณๅฎคใฎๆ‹กๅคงใ‚„ๅŽ็ธฎไธๅ…จใ€ๅณๅฎค่ตทๆบใฎๅฟƒๅฎคๆ€งไธๆ•ด่„ˆใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธๆ•ด่„ˆใจๅฟƒไธๅ…จใซๅฏพใ™ใ‚‹ๆฒป็™‚ใ‚’ใŠใ“ใชใ†ใ€‚ๆŒ็ถšๆ€งๅฟƒๅฎค้ ปๆ‹ใ‚„ๅฟƒๅฎค็ดฐๅ‹•ใชใฉไธๆ•ด่„ˆใซๅฏพใ™ใ‚‹ๆฒป็™‚ใฏใ€่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆคใˆ่พผใฟๅž‹้™ค็ดฐๅ‹•ๅ™จ๏ผˆICD๏ผ‰,ใ‚ซใƒ†ใƒผใƒ†ใƒซใ‚ขใƒ–ใƒฌใƒผใ‚ทใƒงใƒณใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚ๆ…ขๆ€งๅฟƒไธๅ…จ็—‡็Šถใซๅฏพใ—ใฆใฏใ€ๆŠ—ๅฟƒไธๅ…จ่–ฌ็‰ฉ็™‚ๆณ•ใŒใชใ•ใ‚Œใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใซๅๅฟœใ—ใชใ„ๅ ดๅˆใซใฏใ€ๅฟƒ่‡“็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200230" ; + dcterms:source ; a owl:Class ; - rdfs:label "Arrhythmogenic right ventricular cardiomyopathy or dysplasia"@en, "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡"@ja ; + rdfs:label "Arrhythmogenic right ventricular cardiomyopathy or dysplasia"@en, "ใตใ›ใ„ใฟใ‚ƒใใ’ใ‚“ใ›ใ„ใ†ใ—ใคใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016587 ; skos:prefLabel "ไธๆ•ด่„ˆๆบๆ€งๅณๅฎคๅฟƒ็ญ‹็—‡"@ja . -:2200231 - :hasNotificationNumber "29" ; - terms:description "่ƒŽ็”ŸๆœŸใซใฏใ€ๅทฆๅฎคๅ†…่†œๅดๅฟƒ็ญ‹ๅฑคใฏใ€็ฒ—ใช้–“้š™ใŒ็ถฒ็›ฎ็Šถใซไนฑใ‚ŒใŸ่ตฐ่กŒใ‚’ใ—ใฆใŠใ‚Šใ€ใ“ใ‚ŒใŒ็™บ่‚ฒใจใจใ‚‚ใซๅฏ†ใจใชใฃใฆๅ†…่…”้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆ…‹ใ‚‚ๆถˆๅคฑใ—ใฆใ€่‚‰ๆŸฑใฏๆต…ใ็ดฐใ‹ใใชใฃใฆใ„ใใ€‚ๅฟƒๅฎค็‰นใซๅทฆๅฎคใฎๅฟƒ็ญ‹ใŒๅ…จๅฑคใซใ‚ใŸใฃใฆ็ทปๅฏ†ใช็Šถๆ…‹ใซๆˆ็†Ÿใ›ใšใ€้–“้š™ใŒๅคšใใชใฃใฆใ„ใ‚‹็Šถๆ…‹ใ‚’็ทปๅฏ†ๅŒ–้šœๅฎณใจใ„ใ†ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผๆณ•ใ€MRIใพใŸใฏๅทฆๅฎค้€ ๅฝฑๆณ•ใซใ‚ˆใฃใฆๅทฆๅฎคๅ†…้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆˆใจใใฎ้–“ใฎๆทฑใ„้™ฅๅ‡นใ‚’ใฟใจใ‚, ใใฎๅฟƒๅค–่†œๅดใซใ€็ทปๅฏ†ๅŒ–้šœๅฎณๅฑคใ‚ˆใ‚Š่–„ใ„็ทปๅฏ†ๅŒ–ๅฑคใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎใ“ใจใŒใ‚ใ‚Šใ€่‡จๅบŠ็š„ใซใฏๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200231" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:description "่ƒŽ็”ŸๆœŸใซใฏใ€ๅทฆๅฎคๅ†…่†œๅดๅฟƒ็ญ‹ๅฑคใฏใ€็ฒ—ใช้–“้š™ใŒ็ถฒ็›ฎ็Šถใซไนฑใ‚ŒใŸ่ตฐ่กŒใ‚’ใ—ใฆใŠใ‚Šใ€ใ“ใ‚ŒใŒ็™บ่‚ฒใจใจใ‚‚ใซๅฏ†ใจใชใฃใฆๅ†…่…”้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆ…‹ใ‚‚ๆถˆๅคฑใ—ใฆใ€่‚‰ๆŸฑใฏๆต…ใ็ดฐใ‹ใใชใฃใฆใ„ใใ€‚ๅฟƒๅฎค็‰นใซๅทฆๅฎคใฎๅฟƒ็ญ‹ใŒๅ…จๅฑคใซใ‚ใŸใฃใฆ็ทปๅฏ†ใช็Šถๆ…‹ใซๆˆ็†Ÿใ›ใšใ€้–“้š™ใŒๅคšใใชใฃใฆใ„ใ‚‹็Šถๆ…‹ใ‚’็ทปๅฏ†ๅŒ–้šœๅฎณใจใ„ใ†ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผๆณ•ใ€MRIใพใŸใฏๅทฆๅฎค้€ ๅฝฑๆณ•ใซใ‚ˆใฃใฆๅทฆๅฎคๅ†…้ขใฎ็ฒ—ใ„่‚‰ๆŸฑๅฝขๆˆใจใใฎ้–“ใฎๆทฑใ„้™ฅๅ‡นใ‚’ใฟใจใ‚, ใใฎๅฟƒๅค–่†œๅดใซใ€็ทปๅฏ†ๅŒ–้šœๅฎณๅฑคใ‚ˆใ‚Š่–„ใ„็ทปๅฏ†ๅŒ–ๅฑคใ‚’่ชใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใฎใ“ใจใŒใ‚ใ‚Šใ€่‡จๅบŠ็š„ใซใฏๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200231" ; + dcterms:source ; a owl:Class ; - rdfs:label "Non-compaction of the ventricle"@en, "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ"@ja ; + rdfs:label "Non-compaction of the ventricle"@en, "ใ—ใ‚“ใใ‚“ใกใฟใคใ‹ใ—ใ‚‡ใ†ใŒใ„"@ja-Hira, "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018901 ; skos:prefLabel "ๅฟƒ็ญ‹็ทปๅฏ†ๅŒ–้šœๅฎณ"@ja . -:2200232 - :hasNotificationNumber "4" ; - terms:description "ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒ็„กใๅทฆๅฎคใ€ใพใŸใฏไธกๅฟƒๅฎคใŒๆ‹กๅผตใ—ใ€ๅŽ็ธฎ่ƒฝใŒไฝŽไธ‹ใ—ใฆใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎๅค‰ๆ€งใ€็ทš็ถญๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚"@ja ; - terms:identifier "2200232" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒ็„กใๅทฆๅฎคใ€ใพใŸใฏไธกๅฟƒๅฎคใŒๆ‹กๅผตใ—ใ€ๅŽ็ธฎ่ƒฝใŒไฝŽไธ‹ใ—ใฆใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎๅค‰ๆ€งใ€็ทš็ถญๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200232" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dilated cardiomyopathy"@en, "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:label "Dilated cardiomyopathy"@en, "ใ‹ใใกใ‚‡ใ†ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005021 ; + rdfs:subClassOf ; + skos:altLabel "DCM"@en ; + skos:closeMatch obo:MONDO_0005021 ; skos:prefLabel "ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:2200233 - :hasNotificationNumber "20" ; - terms:description "ๅทฆๅฎคใฎๆ‹กๅผต้šœๅฎณใ‚’่ชใ‚ใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ๅทฆๅฎคใฎๅŽ็ธฎ่ƒฝใฏใปใผไฟใŸใ‚Œใ€ๅทฆๅฎคๆ‹กๅคงใฏใชใ„ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ่‚ฅๅคงใ€็ทš็ถญๅŒ–ใชใฉ้ž็‰น็•ฐ็š„ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ใ„ใฃใŸใ‚“ๆœ‰็—‡็Šถใซใชใ‚‹ใจ็—…ๆ…‹ๆ‚ชๅŒ–ใฎ้€ฒ่กŒใฏ้€Ÿใใ€ๅฟƒ็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200233" ; - terms:source ; - a owl:Class ; - rdfs:label "Restricted cardiomyopathy"@en, "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "20" ; + dcterms:description "ๅทฆๅฎคใฎๆ‹กๅผต้šœๅฎณใ‚’่ชใ‚ใ€ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ๅทฆๅฎคใฎๅŽ็ธฎ่ƒฝใฏใปใผไฟใŸใ‚Œใ€ๅทฆๅฎคๆ‹กๅคงใฏใชใ„ใ€‚็ต„็น”ไธŠใฏๅฟƒ็ญ‹็ดฐ่ƒžใฎ่‚ฅๅคงใ€็ทš็ถญๅŒ–ใชใฉ้ž็‰น็•ฐ็š„ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐๅฎถๆ—ๆ€งใ‚’ๅ‘ˆใ—ใ€็ญ‹ๅŽŸ็ทš็ถญใ‚„็ดฐ่ƒž้ชจๆ ผ่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ใชใฉ่‹ฅๅนด่€…ใปใฉไบˆๅพŒใฏๆ‚ชใ„ใ€‚ใ„ใฃใŸใ‚“ๆœ‰็—‡็Šถใซใชใ‚‹ใจ็—…ๆ…‹ๆ‚ชๅŒ–ใฎ้€ฒ่กŒใฏ้€Ÿใใ€ๅฟƒ็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200233" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Restrictive cardiomyopathy"@en, "ใ“ใ†ใใใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Restricted cardiomyopathy"@en ; + skos:closeMatch obo:MONDO_0005201 ; skos:prefLabel "ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡"@ja . -:2200234 - :hasNotificationNumber "35" ; - terms:description "ๅ…ˆๅคฉๆ€งใพใŸใฏๅพŒๅคฉๆ€งใซๅฟƒๅฎคใซใงใใŸๆ†ฉๅฎค็”จใฎ่†จ้š†ใ€‚่†จ้š†้ƒจใฎๅฃใฏๅฟƒๅ†…่†œใ€ๅฟƒ็ญ‹ใ€ๅฟƒๅค–่†œใฎ๏ผ“ๅฑคๆง‹้€ ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€็ทš็ถญๅŒ–็ต„็น”ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏๅ‰่€…ใŒๅคšใใ€ๅฟƒ็ญ‹ๆข—ๅกžๅพŒใฎๅฟƒ็ญ‹ๅฃŠๆญปใซ่ตทๅ› ใ™ใ‚‹ใจใใฏใ€ๅพŒ่€…ใŒๅคšใ„ใ€‚็ ด่ฃ‚ใฎใƒชใ‚นใ‚ฏใŒใ‚ใ‚Šใ€ๅณๅฎคๆ†ฉๅฎคใฏๆ‰‹่ก“้ฉๅฟœใŒใ‚ใ‚Œใฐๆ‰‹่ก“ใ€ๅทฆๅฎค็˜คใฏๆ‰‹่ก“ๅ›ฐ้›ฃใง้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคๅˆ‡้™คๅพŒใซ็ธซๅˆ้ƒจ็˜ข็—•ใ‹ใ‚‰ไธๆ•ด่„ˆใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคใฎ้Žๅˆ‡้™คใงๅฟƒไธๅ…จใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็”Ÿๆถฏใฎ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ไบˆๅพŒใฏไธๆ˜Žใ€‚"@ja ; - terms:identifier "2200234" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ๅ…ˆๅคฉๆ€งใพใŸใฏๅพŒๅคฉๆ€งใซๅฟƒๅฎคใซใงใใŸๆ†ฉๅฎค็”จใฎ่†จ้š†ใ€‚่†จ้š†้ƒจใฎๅฃใฏๅฟƒๅ†…่†œใ€ๅฟƒ็ญ‹ใ€ๅฟƒๅค–่†œใฎ๏ผ“ๅฑคๆง‹้€ ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€็ทš็ถญๅŒ–็ต„็น”ใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏๅ‰่€…ใŒๅคšใใ€ๅฟƒ็ญ‹ๆข—ๅกžๅพŒใฎๅฟƒ็ญ‹ๅฃŠๆญปใซ่ตทๅ› ใ™ใ‚‹ใจใใฏใ€ๅพŒ่€…ใŒๅคšใ„ใ€‚็ ด่ฃ‚ใฎใƒชใ‚นใ‚ฏใŒใ‚ใ‚Šใ€ๅณๅฎคๆ†ฉๅฎคใฏๆ‰‹่ก“้ฉๅฟœใŒใ‚ใ‚Œใฐๆ‰‹่ก“ใ€ๅทฆๅฎค็˜คใฏๆ‰‹่ก“ๅ›ฐ้›ฃใง้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคๅˆ‡้™คๅพŒใซ็ธซๅˆ้ƒจ็˜ข็—•ใ‹ใ‚‰ไธๆ•ด่„ˆใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ†ฉๅฎคใฎ้Žๅˆ‡้™คใงๅฟƒไธๅ…จใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็”Ÿๆถฏใฎ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ไบˆๅพŒใฏไธๆ˜Žใ€‚"@ja ; + dcterms:identifier "NANDO:2200234" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aneurysm of ventricle"@en, "ๅฟƒๅฎค็˜ค"@ja ; + rdfs:label "Aneurysm of ventricle"@en, "ใ—ใ‚“ใ—ใคใ‚Šใ‚…ใ†"@ja-Hira, "ๅฟƒๅฎค็˜ค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "diverticulum of ventricle"@en ; + rdfs:subClassOf ; + skos:altLabel "Diverticulum of ventricle"@en ; + skos:closeMatch obo:MONDO_0006779, obo:MONDO_0015677 ; skos:prefLabel "ๅฟƒๅฎค็˜ค"@ja . -:2200235 - :hasNotificationNumber "45" ; - terms:description "๏ผ‘ใคใ‚ใ‚‹ใ„ใฏใใ‚ŒไปฅไธŠใฎๅฟƒๅฎคใชใ‚‰ใณใซๅฟƒๆˆฟใซใ€่† ๅŽŸ็ทš็ถญใŠใ‚ˆใณๅผพๆ€ง็นŠ็ถญใฎๅข—็”ŸใซๅŸบใฅใๅฟƒๅ†…่†œใฎ่‚ฅๅŽšใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใ€‚็ขบๅฎš่จบๆ–ญใฏใ€็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใงใ€ใณใพใ‚“ๆ€งใซๅฟƒๅ†…่†œ่‚ฅๅŽšใ‚’่ชใ‚ใ‚‹ใ€‚้ซ˜ๅบฆใฎๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆธ›ๅฐ‘ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200235" ; - terms:source ; + + nando:hasNotificationNumber "45" ; + dcterms:description "๏ผ‘ใคใ‚ใ‚‹ใ„ใฏใใ‚ŒไปฅไธŠใฎๅฟƒๅฎคใชใ‚‰ใณใซๅฟƒๆˆฟใซใ€่† ๅŽŸ็ทš็ถญใŠใ‚ˆใณๅผพๆ€ง็นŠ็ถญใฎๅข—็”ŸใซๅŸบใฅใๅฟƒๅ†…่†œใฎ่‚ฅๅŽšใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใ€‚็ขบๅฎš่จบๆ–ญใฏใ€็ต„็น”ๅญฆ็š„ๆ‰€่ฆ‹ใงใ€ใณใพใ‚“ๆ€งใซๅฟƒๅ†…่†œ่‚ฅๅŽšใ‚’่ชใ‚ใ‚‹ใ€‚้ซ˜ๅบฆใฎๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆธ›ๅฐ‘ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅฟƒๅฎคๅ†ๅŒๆœŸ็™‚ๆณ•ใ€ไบบๅทฅๅฟƒ่‡“ใฎๆคใˆ่พผใฟใ€ๅฟƒ่‡“็งปๆคใชใฉใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200235" ; + dcterms:source ; a owl:Class ; - rdfs:label "Endocardial fibroelastosis"@en, "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡"@ja ; + rdfs:label "Endocardial fibroelastosis"@en, "ใ—ใ‚“ใชใ„ใพใใ›ใ‚“ใ„ใ ใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009169 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009169 ; skos:prefLabel "ๅฟƒๅ†…่†œ็ทš็ถญๅผพๆ€ง็—‡"@ja . -:2200236 - :hasNotificationNumber "36" ; - terms:description "ๅฟƒๆˆฟใ€ๅฟƒๅฎคใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ€‚่‰ฏๆ€งใŒๅคšใใ€ๆ‚ชๆ€งใฏๅฐ‘ใชใ„ใŒ๏ผˆ10๏ผ…๏ผ‰ใ€่‰ฏๆ€งใงใ‚‚ๅฟƒๆฉŸ่ƒฝใซๆ‚ชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆจช็ด‹็ญ‹็จฎใ€็ทš็ถญ่…ซใ€็ฒ˜ๆถฒ่…ซใ€ๅฅ‡ๅฝข่…ซใ€่„‚่‚ช่…ซใ€่‚‰่…ซใชใฉใŒใ‚ใ‚‹ใ€‚ๆจช็ด‹็ญ‹็จฎใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ๅณๅฎคใ€ๅทฆๅฎคใซๅคš็™บๆ€งใฎใ“ใจใŒๅคšใ„ใ€‚็ทš็ถญ่…ซใฏใ€ๅณๅฎคใ€ๅทฆๅฎคใซ็™บ็”Ÿใ—ใ€็ช็„ถๆญปใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚็ฒ˜ๆถฒ่…ซใฏๅฟƒๆˆฟใซ็™บ็”Ÿใ—ใ€็Ÿญ่ŒŽใ‚’ๆœ‰ใ—ใฆๅฟƒๆˆฟๅ†…ใซ็ชๅ‡บใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆ‘˜ๅ‡บๅฏ่ƒฝใช้ƒจไฝใ€ๅคงใใ•ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใฆใ‚‚ๆ‰‹่ก“ใŒใงใใชใ„ไพ‹ใงใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200236" ; - terms:source ; + + nando:hasNotificationNumber "36" ; + dcterms:description "ๅฟƒๆˆฟใ€ๅฟƒๅฎคใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ€‚่‰ฏๆ€งใŒๅคšใใ€ๆ‚ชๆ€งใฏๅฐ‘ใชใ„ใŒ๏ผˆ10๏ผ…๏ผ‰ใ€่‰ฏๆ€งใงใ‚‚ๅฟƒๆฉŸ่ƒฝใซๆ‚ชๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใ€ๆจช็ด‹็ญ‹็จฎใ€็ทš็ถญ่…ซใ€็ฒ˜ๆถฒ่…ซใ€ๅฅ‡ๅฝข่…ซใ€่„‚่‚ช่…ซใ€่‚‰่…ซใชใฉใŒใ‚ใ‚‹ใ€‚ๆจช็ด‹็ญ‹็จฎใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚ๅณๅฎคใ€ๅทฆๅฎคใซๅคš็™บๆ€งใฎใ“ใจใŒๅคšใ„ใ€‚็ทš็ถญ่…ซใฏใ€ๅณๅฎคใ€ๅทฆๅฎคใซ็™บ็”Ÿใ—ใ€็ช็„ถๆญปใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚็ฒ˜ๆถฒ่…ซใฏๅฟƒๆˆฟใซ็™บ็”Ÿใ—ใ€็Ÿญ่ŒŽใ‚’ๆœ‰ใ—ใฆๅฟƒๆˆฟๅ†…ใซ็ชๅ‡บใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใ‚‹ใ‚‚ใฎใฏใ€ๆ‘˜ๅ‡บๅฏ่ƒฝใช้ƒจไฝใ€ๅคงใใ•ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚่ก€่กŒๅ‹•ๆ…‹็•ฐๅธธใ‚’ใใŸใ—ใฆใ„ใฆใ‚‚ๆ‰‹่ก“ใŒใงใใชใ„ไพ‹ใงใฏไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200236" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cardiac tumor"@en, "ๅฟƒ่‡“่…ซ็˜"@ja ; + rdfs:label "Cardiac tumor"@en, "ใ—ใ‚“ใžใ†ใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "ๅฟƒ่‡“่…ซ็˜"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001340, mondo:MONDO_0021209 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0021209 ; skos:prefLabel "ๅฟƒ่‡“่…ซ็˜"@ja . -:2200237 - :hasNotificationNumber "92" ; - terms:description "ๆ•ฐใƒถๆœˆไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅฟƒ็ญ‹็‚Žใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’่ชใ‚ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ๅž‹ใจใ€ๆ€ฅๆ€งๅฟƒ็ญ‹็‚ŽใŒ้ทๅปถใ™ใ‚‹ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200237" ; - terms:source ; + + nando:hasNotificationNumber "93" ; + dcterms:description "ๆ•ฐใƒถๆœˆไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅฟƒ็ญ‹็‚Žใ€‚็ช็„ถๆญปใ€ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใชใฉใ‚’่ชใ‚ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ๅž‹ใจใ€ๆ€ฅๆ€งๅฟƒ็ญ‹็‚ŽใŒ้ทๅปถใ™ใ‚‹ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅ›ฐ้›ฃใงไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200237" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic myocarditis"@en, "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž"@ja ; + rdfs:label "Chronic myocarditis"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใใ‚“ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๅฟƒ็ญ‹็‚Ž"@ja . -:2200238 - :hasNotificationNumber "93" ; - terms:description "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ‚†ใฃใใ‚Šใจใ—ใŸๅฟƒๅšขๆถฒใฎๅข—ๅคง๏ผˆๆตธๅ‡บๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚„ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒใ‚ฟใƒณใƒใƒŠใƒผใƒ‡ใจใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆ…ขๆ€งๅฟƒ่†œ็‚Žใฎไธ€็จฎใงใ‚ใ‚‹ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Žใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200238" ; - terms:source ; + + nando:hasNotificationNumber "94" ; + dcterms:description "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ใ‚†ใฃใใ‚Šใจใ—ใŸๅฟƒๅšขๆถฒใฎๅข—ๅคง๏ผˆๆตธๅ‡บๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚„ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅฟƒใ‚ฟใƒณใƒใƒŠใƒผใƒ‡ใจใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆ…ขๆ€งๅฟƒ่†œ็‚Žใฎไธ€็จฎใงใ‚ใ‚‹ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Žใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200238" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic pericarditis"@en, "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž"@ja ; + rdfs:label "Chronic pericarditis"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใพใใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๆ…ขๆ€งๅฟƒ่†œ็‚Ž"@ja . -:2200239 - :hasNotificationNumber "25" ; - terms:description "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆœ‰็—‡็Šถใฎๅ ดๅˆใฏใ€ๅค–็ง‘็š„ใซๅฟƒ่†œๅˆ‡้™คใ‚’ใŠใ“ใชใ†ใ€‚ๆœฌ็—‡ใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200239" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๅฟƒ่†œใฎ็‚Ž็—‡ใŒๆ•ฐใƒถๆœˆไปฅไธŠใซใ‚ใŸใฃใฆๅพใ€…ใซๅ‡บ็พใ™ใ‚‹ใ‹ๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ€‚ๆ…ขๆ€งใซ็ตŒ้Žใ™ใ‚‹ๅฟƒ่†œ่‚ฅๅŽš๏ผˆๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž๏ผ‰ใ‚’ใใŸใ—ใ€ๅฟƒ่‡“ใฎๅ……ๆบ€้šœๅฎณใ‚’ๆฅใ™็–พๆ‚ฃใ€‚ใ†ใฃ่ก€ๆ€งๅฟƒไธๅ…จ็—‡็Šถใ€ๅ‘ผๅธๅ›ฐ้›ฃใชใฉใ‚’่ชใ‚ใ€ๆ‹˜ๆŸๅž‹ๅฟƒ็ญ‹็—‡ใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไธ้ก•ๆ€งใซ็™บ็—‡ใ—็™บ็—…ๆ™‚ๆœŸใŒใฏใฃใใ‚Šใ—ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ๆœ‰็—‡็Šถใฎๅ ดๅˆใฏใ€ๅค–็ง‘็š„ใซๅฟƒ่†œๅˆ‡้™คใ‚’ใŠใ“ใชใ†ใ€‚ๆœฌ็—‡ใฏๆฒป็™‚ๅ›ฐ้›ฃใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200239" ; + dcterms:source ; a owl:Class ; - rdfs:label "Constrictive pericarditis"@en, "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž"@ja ; + rdfs:label "Constrictive pericarditis"@en, "ใ—ใ‚…ใ†ใ—ใ‚…ใใ›ใ„ใ—ใ‚“ใพใใˆใ‚“"@ja-Hira, "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006711 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006711 ; skos:prefLabel "ๅŽ็ธฎๆ€งๅฟƒ่†œ็‚Ž"@ja . -:2200240 - :hasNotificationNumber "53" ; - terms:description "ๅ…ˆๅคฉ็š„ใซๅฟƒ่†œใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€้ƒจๅˆ†ๆฌ ๆใงใฏใ€ๅฟƒ่€ณใŒๅตŒ้ “ใ—ใŸใ‚Šใ€ๅ† ๅ‹•่„ˆใŒๅœง่ฟซใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใจ่ƒธ็—›ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅตŒ้ “ใฎๅฑ้™บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200240" ; - terms:source ; + + nando:hasNotificationNumber "53" ; + dcterms:description "ๅ…ˆๅคฉ็š„ใซๅฟƒ่†œใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€้ƒจๅˆ†ๆฌ ๆใงใฏใ€ๅฟƒ่€ณใŒๅตŒ้ “ใ—ใŸใ‚Šใ€ๅ† ๅ‹•่„ˆใŒๅœง่ฟซใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใจ่ƒธ็—›ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅตŒ้ “ใฎๅฑ้™บใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200240" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital defect of the pericardium"@en, "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡"@ja ; + rdfs:label "Congenital defect of the pericardium"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚“ใพใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅฟƒ่†œๆฌ ๆ็—‡"@ja . -:2200241 - :hasNotificationNumber "76" ; - terms:description "ๆœฌ็—‡ใฏใ€็”Ÿๆฅๅฅๅบทใชไนณๅ…ใซใ€ๆ•ฐๆ—ฅใฎๆ„Ÿๅ†’ๆง˜ใฎๅ‰้ง†็—‡็Šถใซๅผ•ใ็ถšใ„ใฆ็ช็„ถใซๅƒงๅธฝๅผใฎ่…ฑ็ดขใŒๆ–ญ่ฃ‚ใ—ใ€็™บ็—‡ใจๅŒๆ™‚ใซๆ€ฅ้€Ÿใซๅ‘ผๅธๅพช็’ฐไธๅ…จใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ4-6ใƒถๆœˆใซไนณๅ…ใซๅคšใใ€ๆ˜ฅใ‹ใ‚‰ๅคใซใ‹ใ‘ใฆๅฅฝ็™บใ—ใ€ๅ ฑๅ‘Šไพ‹ใฎใปใจใ‚“ใฉใŒๆ—ฅๆœฌไบบไนณๅ…ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผใซใ‚ˆใ‚Šๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚Œใ€ๅฐ‚้–€ๆ–ฝ่จญใง้ฉๅˆ‡ใชๅฟƒ่‡“ๅค–็ง‘ๆฒป็™‚ใŒใชใ•ใ‚Œใชใ„ใจใ€ๆ€ฅๆ€งๅทฆๅฟƒไธๅ…จใซใ‚ˆใ‚Š็ŸญๆœŸ้–“ใซๆญปใซ่‡ณใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใพใŸๅค–็ง‘ๆ‰‹่ก“ใซใ‚ˆใ‚Šๆ•‘ๅ‘ฝใ—ๅพ—ใŸๅ ดๅˆใ‚‚ใ€ๆฉŸไผšๅผ็ฝฎๆ›่ก“ใ‚’ไฝ™ๅ„€ใชใใ•ใ‚Œใ‚‹ใ€้บๆฎ‹ใ™ใ‚‹ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใซใ‚ˆใ‚Šๅฟƒไธๅ…จใ‚„ไธๆ•ด่„ˆใ‚’็ถš็™บใ™ใ‚‹ใ€่ก“ๅ‰ใฎใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใชใฉใ€ๅญใฉใ‚‚ใŸใกใฎ็”Ÿๆถฏใซใ‚ใŸใ‚‹้บๆฎ‹็—‡ใ‚„็ถš็™บ็—‡ใ‚’ใใŸใ™ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ›ฝๅ†…ๅค–ใฎๅฐๅ…็ง‘ใฎๆ•™็ง‘ๆ›ธใซๆœชใ ่จ˜่ผ‰ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšใใฎๅฐๅ…็ง‘ๅŒปใฏๆœฌ็–พๆ‚ฃใฎๅญ˜ๅœจใ‚’ๅๅˆ†ใซ่ช่ญ˜ใ—ใฆใ„ใชใ„ใŸใ‚ใ€ๆ€ฅๆ€งๆœŸใ ใ‘ใงใชใ้ ้š”ๆœŸใฎ็—…ๆ…‹ใฎๅฎŸๆ…‹ใ‚’ๆญฃ็ขบใซๆŠŠๆกใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅบƒใๆƒ…ๅ ฑใ‚’ๅฐๅ…็ง‘ๅŒปใ‚„ๅ†…็ง‘ๅŒปใซๆไพ›ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200241" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:description "ๆœฌ็—‡ใฏใ€็”Ÿๆฅๅฅๅบทใชไนณๅ…ใซใ€ๆ•ฐๆ—ฅใฎๆ„Ÿๅ†’ๆง˜ใฎๅ‰้ง†็—‡็Šถใซๅผ•ใ็ถšใ„ใฆ็ช็„ถใซๅƒงๅธฝๅผใฎ่…ฑ็ดขใŒๆ–ญ่ฃ‚ใ—ใ€็™บ็—‡ใจๅŒๆ™‚ใซๆ€ฅ้€Ÿใซๅ‘ผๅธๅพช็’ฐไธๅ…จใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ4-6ใƒถๆœˆใซไนณๅ…ใซๅคšใใ€ๆ˜ฅใ‹ใ‚‰ๅคใซใ‹ใ‘ใฆๅฅฝ็™บใ—ใ€ๅ ฑๅ‘Šไพ‹ใฎใปใจใ‚“ใฉใŒๆ—ฅๆœฌไบบไนณๅ…ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ๆ–ญๅฑคๅฟƒใ‚จใ‚ณใƒผใซใ‚ˆใ‚Šๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚Œใ€ๅฐ‚้–€ๆ–ฝ่จญใง้ฉๅˆ‡ใชๅฟƒ่‡“ๅค–็ง‘ๆฒป็™‚ใŒใชใ•ใ‚Œใชใ„ใจใ€ๆ€ฅๆ€งๅทฆๅฟƒไธๅ…จใซใ‚ˆใ‚Š็ŸญๆœŸ้–“ใซๆญปใซ่‡ณใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ใพใŸๅค–็ง‘ๆ‰‹่ก“ใซใ‚ˆใ‚Šๆ•‘ๅ‘ฝใ—ๅพ—ใŸๅ ดๅˆใ‚‚ใ€ๆฉŸไผšๅผ็ฝฎๆ›่ก“ใ‚’ไฝ™ๅ„€ใชใใ•ใ‚Œใ‚‹ใ€้บๆฎ‹ใ™ใ‚‹ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใซใ‚ˆใ‚Šๅฟƒไธๅ…จใ‚„ไธๆ•ด่„ˆใ‚’็ถš็™บใ™ใ‚‹ใ€่ก“ๅ‰ใฎใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™ใชใฉใ€ๅญใฉใ‚‚ใŸใกใฎ็”Ÿๆถฏใซใ‚ใŸใ‚‹้บๆฎ‹็—‡ใ‚„็ถš็™บ็—‡ใ‚’ใใŸใ™ใ€‚ๆœฌ็–พๆ‚ฃใฏๅ›ฝๅ†…ๅค–ใฎๅฐๅ…็ง‘ใฎๆ•™็ง‘ๆ›ธใซๆœชใ ่จ˜่ผ‰ใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšใใฎๅฐๅ…็ง‘ๅŒปใฏๆœฌ็–พๆ‚ฃใฎๅญ˜ๅœจใ‚’ๅๅˆ†ใซ่ช่ญ˜ใ—ใฆใ„ใชใ„ใŸใ‚ใ€ๆ€ฅๆ€งๆœŸใ ใ‘ใงใชใ้ ้š”ๆœŸใฎ็—…ๆ…‹ใฎๅฎŸๆ…‹ใ‚’ๆญฃ็ขบใซๆŠŠๆกใ™ใ‚‹ใจใจใ‚‚ใซใ€ๅบƒใๆƒ…ๅ ฑใ‚’ๅฐๅ…็ง‘ๅŒปใ‚„ๅ†…็ง‘ๅŒปใซๆไพ›ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200241" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants"@en, "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚"@ja ; + rdfs:label "Idiopathic rupture of chordae tendineae of the mitral valve in infants"@en, "ใซใ‚…ใ†ใ˜ใจใใฏใคใ›ใ„ใใ†ใผใ†ในใ‚“ใ‘ใ‚“ใ•ใใ ใ‚“ใ‚Œใค"@ja-Hira, "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ไนณๅ…็‰น็™บๆ€งๅƒงๅธฝๅผ่…ฑ็ดขๆ–ญ่ฃ‚"@ja . -:2200242 - :hasNotificationNumber "10" ; - terms:description "ๆญฃๅธธใชใ‚‰ใ€ๅทฆๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚็”ŸๅพŒใฏๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใซใชใ‚‹ใŸใ‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฏใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€่กŒใ‚’ไป‹ใ—ใฆใ—ใ‹ๆฝ…ๆตใ•ใ‚Œใชใใชใ‚‹ใ€‚ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฎ่™š่ก€ใฎใŸใ‚ใซใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚„ใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡้กžไผผใฎๅทฆๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใชใฉใŒ่ตทใ“ใ‚‹ใ€‚ๆฒป็™‚ใ•ใ‚Œใชใ‘ใ‚Œใฐไนณๅนผๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ๅž‹ใจใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€็ฎกใŒ็™บ้”ใ—ใฆๅฟƒ็ญ‹่™š่ก€ใŒ็›ฎ็ซ‹ใŸใชใ„ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ใฉใกใ‚‰ใฎๅž‹ใซใ—ใฆใ‚‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใฉๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ๅทฆๅฎคๆฉŸ่ƒฝไธๅ…จใชใฉใ‚ใ‚Œใฐใ€ใใ‚Œใซๅฏพใ™ใ‚‹ๅ†…็ง‘็š„ๆฒป็™‚๏ผˆๅˆฉๅฐฟ่–ฌใชใฉ๏ผ‰ใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200242" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ๆญฃๅธธใชใ‚‰ใ€ๅทฆๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚็”ŸๅพŒใฏๅทฆๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใซใชใ‚‹ใŸใ‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฏใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€่กŒใ‚’ไป‹ใ—ใฆใ—ใ‹ๆฝ…ๆตใ•ใ‚Œใชใใชใ‚‹ใ€‚ๅทฆๅ† ๅ‹•่„ˆ็ŒๆตๅŸŸใฎ่™š่ก€ใฎใŸใ‚ใซใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚„ใ€ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡้กžไผผใฎๅทฆๅฎคๆฉŸ่ƒฝไฝŽไธ‹ใชใฉใŒ่ตทใ“ใ‚‹ใ€‚ๆฒป็™‚ใ•ใ‚Œใชใ‘ใ‚Œใฐไนณๅนผๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ๅž‹ใจใ€ๅณๅ† ๅ‹•่„ˆใ‹ใ‚‰ใฎๅดๅ‰ฏ่ก€็ฎกใŒ็™บ้”ใ—ใฆๅฟƒ็ญ‹่™š่ก€ใŒ็›ฎ็ซ‹ใŸใชใ„ๅž‹ใจใŒใ‚ใ‚‹ใ€‚ใฉใกใ‚‰ใฎๅž‹ใซใ—ใฆใ‚‚ใ€ๅทฆๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใฉๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚ๅทฆๅฎคๆฉŸ่ƒฝไธๅ…จใชใฉใ‚ใ‚Œใฐใ€ใใ‚Œใซๅฏพใ™ใ‚‹ๅ†…็ง‘็š„ๆฒป็™‚๏ผˆๅˆฉๅฐฟ่–ฌใชใฉ๏ผ‰ใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200242" ; + dcterms:source ; a owl:Class ; - rdfs:label "Abnormal origin of left coronary artery from pulmonary artery"@en, "ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; + rdfs:label "Abnormal origin of left coronary artery from pulmonary artery"@en, "ใฒใ ใ‚Šใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000811 ; skos:prefLabel "ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja . -:2200243 - :hasNotificationNumber "11" ; - terms:description "ๆญฃๅธธใชใ‚‰ใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใฏ่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใŸใ‚ใ€ๅณๅ† ๅ‹•่„ˆ้‚„ๆตๅŸŸใฎ่™š่ก€ใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใชใ‚‰็ตŒ้Ž่ฆณๅฏŸใ—ใฆใ‚‚ใ„ใ„ใจใฎๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใŒใ€็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€็„ก็—‡็Šถใงใ‚‚ๆ‰‹่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ๅณๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใ„ใ—็ต็ดฎ่ก“ใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200243" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ๆญฃๅธธใชใ‚‰ใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใฏ่ตทๅง‹ใ™ใ‚‹ใŒใ€ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใ‚’ใ„ใ†ใ€‚ๅณๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใจใ„ใ†ไฝŽๅœง็ณปใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹ใ“ใจใŸใ‚ใ€ๅณๅ† ๅ‹•่„ˆ้‚„ๆตๅŸŸใฎ่™š่ก€ใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚็„ก็—‡็Šถใชใ‚‰็ตŒ้Ž่ฆณๅฏŸใ—ใฆใ‚‚ใ„ใ„ใจใฎๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใŒใ€็ช็„ถๆญปใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚Šใ€็„ก็—‡็Šถใงใ‚‚ๆ‰‹่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚ๅณๅ† ๅ‹•่„ˆ็งปๆค่ก“ใชใ„ใ—็ต็ดฎ่ก“ใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200243" ; + dcterms:source ; a owl:Class ; - rdfs:label "Abnormal origin of right coronary artery from pulmonary artery"@en, "ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; + rdfs:label "Abnormal origin of right coronary artery from pulmonary artery"@en, "ใฟใŽใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅณๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja . -:2200244 - :hasNotificationNumber "12" ; - terms:description "ๅทฆๅ† ๅฐ–ใ‹ใ‚‰ๅทฆๅ† ๅ‹•่„ˆใŒใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใŒๅ‡บใ‚‹ใฎใŒๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใใ‚Œไปฅๅค–ใฎๅฝขๆ…‹ใ‚’ๅ…จใฆๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใจใ„ใ†ใ€‚ๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใฏๅˆฅ้ …ใงๆ‰ฑใ†ใ€‚ๅ˜ไธ€ๅ† ๅ‹•่„ˆใ€ๅทฆๅ† ๅ‹•่„ˆๆดž๏ผˆๅทฆๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅณๅ† ๅ‹•่„ˆ่ตทๅง‹ใ€ๅณๅ† ๅ‹•่„ˆๆดž๏ผˆๅณๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅทฆๅ† ๅ‹•่„ˆ่ตทๅง‹ใŒใ‚ใ‚‹ใ€‚่ตทๅง‹็•ฐๅธธใฎๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใจไธป่‚บๅ‹•่„ˆใจใฎ้–“ใ‚’่ตฐ่กŒใ™ใ‚‹ใ“ใจใงใ€ๅฟƒ็ญ‹่™š่ก€ใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚’่ตทใ“ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200244" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ๅทฆๅ† ๅฐ–ใ‹ใ‚‰ๅทฆๅ† ๅ‹•่„ˆใŒใ€ๅณๅ† ๅฐ–ใ‹ใ‚‰ๅณๅ† ๅ‹•่„ˆใŒๅ‡บใ‚‹ใฎใŒๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใใ‚Œไปฅๅค–ใฎๅฝขๆ…‹ใ‚’ๅ…จใฆๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใจใ„ใ†ใ€‚ๅ† ๅ‹•่„ˆใŒ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹็•ฐๅธธใฏๅˆฅ้ …ใงๆ‰ฑใ†ใ€‚ๅ˜ไธ€ๅ† ๅ‹•่„ˆใ€ๅทฆๅ† ๅ‹•่„ˆๆดž๏ผˆๅทฆๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅณๅ† ๅ‹•่„ˆ่ตทๅง‹ใ€ๅณๅ† ๅ‹•่„ˆๆดž๏ผˆๅณๅ† ๅฐ–๏ผ‰ใ‹ใ‚‰ใฎๅทฆๅ† ๅ‹•่„ˆ่ตทๅง‹ใŒใ‚ใ‚‹ใ€‚่ตทๅง‹็•ฐๅธธใฎๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใจไธป่‚บๅ‹•่„ˆใจใฎ้–“ใ‚’่ตฐ่กŒใ™ใ‚‹ใ“ใจใงใ€ๅฟƒ็ญ‹่™š่ก€ใ€ๅฟƒ็ญ‹ๆข—ๅกžใ‚’่ตทใ“ใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200244" ; + dcterms:source ; a owl:Class ; - rdfs:label "29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ"@ja, "Other anomalous origin of coronary artery"@en ; + rdfs:label "29ใŠใ‚ˆใณ30ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ—ใ„ใ˜ใ‚‡ใ†"@ja-Hira, "29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ"@ja, "Other anomalous origin of coronary artery"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "29ๅŠใณ30ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธ"@ja . -:2200245 - :hasNotificationNumber "5" ; - terms:description "ๅทๅดŽ็—…ใซๅˆไฝตใ™ใ‚‹ๅ† ๅ‹•่„ˆ็˜คใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใฎ่จบๆ–ญใฏใ€ๆ—ฅๆœฌๅทๅดŽ็—…ๅญฆไผšใฎ่จบๆ–ญใฎๆ‰‹ๅผ•ใ๏ผˆhttp://www.jskd.jp/info/tebiki.html๏ผ‰ใซ่จ˜่ผ‰ใŒใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใซๅˆไฝตใ—ใŸๅ† ๅ‹•่„ˆ็˜คใซใคใ„ใฆใฏใ€ๆ—ฅๆœฌๅพช็’ฐๅ™จๅญฆไผšใซใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผˆๅทๅดŽ็—…ๅฟƒ่‡“่ก€็ฎกๅพŒ้บ็—‡ใฎ่จบๆ–ญๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผ‰ใŒใ‚ใ‚‹ ๏ผˆhttp://www.j-circ.or.jp/guideline/pdf/JCS2013_ogawas_h.pdf๏ผ‰ใ€‚ๅทๅดŽ็—…ใฏๅŽŸๅ› ไธๆ˜Žใฎๅ…จ่บซๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‰นใซๅ† ๅ‹•่„ˆใฎ็‚Ž็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…็™บ็—‡ๅพŒ6ใ€œ8ๆ—ฅ้ ƒใ€ๅ‹•่„ˆใฎๅ†…่†œใŠใ‚ˆใณๅค–่†œใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใŒใŠใ“ใ‚‹ใ€‚10็—…ๆ—ฅ้ ƒใ€ๅ‹•่„ˆๅฃๅ…จๅฑคใฎ็‚Ž็—‡ใจใชใ‚Šใ€ๅ‹•่„ˆใฎๆ‹กๅผตใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚ŒใŒๆ‚ชๅŒ–ใ™ใ‚‹ใจ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚็˜คๅ†…ใฎ่ก€ๆ “ใฎไบˆ้˜ฒใฎ็›ฎ็š„ใงใ€ๆŠ—่ก€ๆ “ใ€ๆŠ—ๅ‡ๅ›บ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚็˜คใฎ็‹ญ็ช„ใซๅฏพใ—ใฆใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚„ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200245" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ๅทๅดŽ็—…ใซๅˆไฝตใ™ใ‚‹ๅ† ๅ‹•่„ˆ็˜คใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใฎ่จบๆ–ญใฏใ€ๆ—ฅๆœฌๅทๅดŽ็—…ๅญฆไผšใฎ่จบๆ–ญใฎๆ‰‹ๅผ•ใ๏ผˆhttp://www.jskd.jp/info/tebiki.html๏ผ‰ใซ่จ˜่ผ‰ใŒใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…ใซๅˆไฝตใ—ใŸๅ† ๅ‹•่„ˆ็˜คใซใคใ„ใฆใฏใ€ๆ—ฅๆœฌๅพช็’ฐๅ™จๅญฆไผšใซใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผˆๅทๅดŽ็—…ๅฟƒ่‡“่ก€็ฎกๅพŒ้บ็—‡ใฎ่จบๆ–ญๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ๏ผ‰ใŒใ‚ใ‚‹ ๏ผˆhttp://www.j-circ.or.jp/guideline/pdf/JCS2013_ogawas_h.pdf๏ผ‰ใ€‚ๅทๅดŽ็—…ใฏๅŽŸๅ› ไธๆ˜Žใฎๅ…จ่บซๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็‰นใซๅ† ๅ‹•่„ˆใฎ็‚Ž็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๅทๅดŽ็—…็™บ็—‡ๅพŒ6ใ€œ8ๆ—ฅ้ ƒใ€ๅ‹•่„ˆใฎๅ†…่†œใŠใ‚ˆใณๅค–่†œใฎ็‚Ž็—‡ๆ€ง็ดฐ่ƒžๆตธๆฝคใŒใŠใ“ใ‚‹ใ€‚10็—…ๆ—ฅ้ ƒใ€ๅ‹•่„ˆๅฃๅ…จๅฑคใฎ็‚Ž็—‡ใจใชใ‚Šใ€ๅ‹•่„ˆใฎๆ‹กๅผตใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚ŒใŒๆ‚ชๅŒ–ใ™ใ‚‹ใจ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚็˜คๅ†…ใฎ่ก€ๆ “ใฎไบˆ้˜ฒใฎ็›ฎ็š„ใงใ€ๆŠ—่ก€ๆ “ใ€ๆŠ—ๅ‡ๅ›บ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚็˜คใฎ็‹ญ็ช„ใซๅฏพใ—ใฆใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‚„ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200245" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coronary aneurysms complicated with kawasaki disease"@en, "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค"@ja ; + rdfs:label "Coronary aneurysms complicated with Kawasaki disease"@en, "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค"@ja . -:2200246 - :hasNotificationNumber "6" ; - terms:description "ๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใธใฎ้–‹ๅฃ้ƒจใง้–‰้Ž–ใ‚ใ‚‹ใ„ใฏ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ๅทฆๅ† ๅ‹•่„ˆใซๅคšใใ€ๅ˜็‹ฌใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใจๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ‚„ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใซๅˆไฝตใ—ใฆ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใŒใคใๆฌก็ฌฌใ€้–‰้Ž–ใฎๅฝขๆ…‹ใซๅฟœใ˜ใฆใ€่†œๆง˜็‰ฉใฎๅˆ‡้™คใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใชใฉใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200246" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅ† ๅ‹•่„ˆใŒๅคงๅ‹•่„ˆใธใฎ้–‹ๅฃ้ƒจใง้–‰้Ž–ใ‚ใ‚‹ใ„ใฏ็‹ญ็ช„ใ—ใฆใ„ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ๅทฆๅ† ๅ‹•่„ˆใซๅคšใใ€ๅ˜็‹ฌใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใจๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใ‚„ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใซๅˆไฝตใ—ใฆ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใŒใคใๆฌก็ฌฌใ€้–‰้Ž–ใฎๅฝขๆ…‹ใซๅฟœใ˜ใฆใ€่†œๆง˜็‰ฉใฎๅˆ‡้™คใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใชใฉใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200246" ; + dcterms:source ; a owl:Class ; - rdfs:label "Stenosis or atresia of coronary artery"@en, "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Stenosis or atresia of coronary artery"@en, "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006715 ; skos:prefLabel "ๅ† ๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja . -:2200247 - :hasNotificationNumber "15" ; - terms:description "่ƒธ็—›ๆ™‚ใซๅฟƒ้›ปๅ›ณใงSTไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใŸใ ใ—ใ€็„ก็—‡ๅ€™ๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใŒ้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใง่จผๆ˜Žใ•ใ‚Œใ€ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่™š่ก€ใŒ่จผๆ˜Žใ•ใ‚ŒใŸๅ ดๅˆใ‚’ใ„ใ†ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200247" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "่ƒธ็—›ๆ™‚ใซๅฟƒ้›ปๅ›ณใงSTไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใŸใ ใ—ใ€็„ก็—‡ๅ€™ๆ€งใ‚‚ใ‚ใ‚‹ใ€‚ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใŒ้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใง่จผๆ˜Žใ•ใ‚Œใ€ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่™š่ก€ใŒ่จผๆ˜Žใ•ใ‚ŒใŸๅ ดๅˆใ‚’ใ„ใ†ใ€‚่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200247" ; + dcterms:source ; a owl:Class ; - rdfs:label "Angina pectoris"@en, "็‹ญๅฟƒ็—‡"@ja ; + rdfs:label "Angina pectoris"@en, "ใใ‚‡ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‹ญๅฟƒ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "็‹ญๅฟƒ็—‡"@ja . -:2200248 - :hasNotificationNumber "16" ; - terms:description "ๅฟƒ็ญ‹ๆข—ๅกžใฏใ€ๆ€ฅๆฟ€ใชๅ† ๅ‹•่„ˆ่ก€ๆตใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šๅฟƒ็ญ‹ๅฃŠๆญปใซใ„ใŸใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจไธๅฟซๆ„Ÿใ€ใ‚ทใƒงใƒƒใ‚ฏใชใฉ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใจใ€็„ก็—‡ๅ€™ๆ€งใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€ๅฟƒ้›ปๅ›ณใงใฎ็ตŒๆ™‚็š„ๅค‰ๅŒ–ใŒใ‚ใ‚‹ใ€‚้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใงๅ† ๅ‹•่„ˆ็‹ญ็ช„ใ€้–‰ๅกžใฎๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่ก€ๆตใŒไฝŽไธ‹ใ—ๅ†็ŒๆตใŒ็„กใ„ใ€‚็™บ็—‡ๆ—ฉๆœŸใชใ‚‰ใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ๆบถ่งฃ็™‚ๆณ•ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅ† ๅ‹•่„ˆๆ‹กๅผตใ‚’ใŠใ“ใชใ†ใ€‚ใใฎๅพŒใฎๆ…ขๆ€งๆœŸใซใฏใ€็—…ๆ…‹ใจ้ฉๅฟœใซๅฟœใ˜ใฆใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ€ๅฟƒไธๅ…จๆฒป็™‚ใชใฉใ‚’่กŒใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200248" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ๅฟƒ็ญ‹ๆข—ๅกžใฏใ€ๆ€ฅๆฟ€ใชๅ† ๅ‹•่„ˆ่ก€ๆตใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šๅฟƒ็ญ‹ๅฃŠๆญปใซใ„ใŸใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ƒธ้ƒจไธๅฟซๆ„Ÿใ€ใ‚ทใƒงใƒƒใ‚ฏใชใฉ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใจใ€็„ก็—‡ๅ€™ๆ€งใฎๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€ๅฟƒ้›ปๅ›ณใงใฎ็ตŒๆ™‚็š„ๅค‰ๅŒ–ใŒใ‚ใ‚‹ใ€‚้€ ๅฝฑๆคœๆŸป๏ผˆใ‚ซใƒ†ใƒผใƒ†ใƒซใ€CTใชใฉ๏ผ‰ใงๅ† ๅ‹•่„ˆ็‹ญ็ช„ใ€้–‰ๅกžใฎๆ‰€่ฆ‹ใŒใ‚ใ‚‹ใ€‚ๅฟƒ็ญ‹ใ‚ทใƒณใƒใ‚ฐใƒฉใƒ ใงๅฟƒ็ญ‹่ก€ๆตใŒไฝŽไธ‹ใ—ๅ†็ŒๆตใŒ็„กใ„ใ€‚็™บ็—‡ๆ—ฉๆœŸใชใ‚‰ใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ๆบถ่งฃ็™‚ๆณ•ใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅ† ๅ‹•่„ˆๆ‹กๅผตใ‚’ใŠใ“ใชใ†ใ€‚ใใฎๅพŒใฎๆ…ขๆ€งๆœŸใซใฏใ€็—…ๆ…‹ใจ้ฉๅฟœใซๅฟœใ˜ใฆใ€่–ฌ็‰ฉๆฒป็™‚ใ€ๅ† ๅ‹•่„ˆใฎใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ€ใƒใ‚คใƒ‘ใ‚นๆ‰‹่ก“ใ€ๅฟƒไธๅ…จๆฒป็™‚ใชใฉใ‚’่กŒใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200248" ; + dcterms:source ; a owl:Class ; - rdfs:label "Myocardial infarction"@en, "ๅฟƒ็ญ‹ๆข—ๅกž"@ja ; + rdfs:label "Myocardial infarction"@en, "ใ—ใ‚“ใใ‚“ใ“ใ†ใใ"@ja-Hira, "ๅฟƒ็ญ‹ๆข—ๅกž"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005068 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005068 ; skos:prefLabel "ๅฟƒ็ญ‹ๆข—ๅกž"@ja . -:2200249 - :hasNotificationNumber "22" ; - terms:description "ๅทฆๅฟƒๆˆฟใ€ๅทฆๅฟƒๅฎคใ€ไธŠ่กŒๅคงๅ‹•่„ˆใ€ๅคงๅ‹•่„ˆๅผ“ใซใ„ใŸใ‚‹ๅทฆๅฟƒ็ณปใฎไฝŽๅฝขๆˆใจใ€ๅƒงๅธฝๅผใ€ๅคงๅ‹•่„ˆๅผใฎไฝŽๅฝขๆˆใ€็‹ญ็ช„ใ€ใชใ„ใ—้–‰้Ž–ใ‚’ใจใ‚‚ใชใ†็–พๆ‚ฃใ€‚็”ŸๅพŒใฏใ€่ก€่กŒๅ‹•ๆ…‹ไธŠใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใจๅฟƒๆˆฟ้–“ไบค้€šใŒ็”Ÿๅ‘ฝ็ถญๆŒใซไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚็”ŸๅพŒใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€้ซ˜ๅบฆๅฟƒไธๅ…จใ‚’ใจใ‚‚ใชใ†ใ€‚ๆ‰‹่ก“ใซใ‚ˆใฃใฆใ‚‚ๅณๅฎคใ‚’ไฝ“ๅฟƒๅฎคใจใ—ใŸFontanๆ‰‹่ก“ใงใ—ใ‹ไฟฎๅพฉใงใใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ปๅบฆใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ1.4๏ฝž3.8๏ผ…ใงใ€็ฉๆฅต็š„ๆฒป็™‚ใ‚’ใ—ใชใ„ๅ ดๅˆใ€ๅคงๅŠใฏ1ใ‹ๆœˆไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅ† ่ก€ๆตใ‚’ๅซใ‚ใ€ไฝ“่ก€ๆตใŒๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅ‹•่„ˆ็ฎกใฎ้–‰้Ž–ใฏใ—ใฐใ—ใฐ่‡ดๅ‘ฝ็š„ใจใชใ‚‹ใ€‚ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใซใ‚ˆใ‚Šductal shock ใ‚’ไบˆ้˜ฒใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ใ“ใ‚Œใซใ‚ˆใ‚Šๅง‘ๆฏๆ‰‹่ก“ใพใงๆ‚ฃๅ…ใ‚’่‰ฏๅฅฝใช็Šถๆ…‹ใซไฟใฆใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ใฏๆ–ฐ็”Ÿๅ…ๆœŸใซNorwoodๆ‰‹่ก“๏ผˆ+Blalock-Taussig็Ÿญ็ตก่ก“ใพใŸใฏๅณๅฎคโ€”่‚บๅ‹•่„ˆ็Ÿญ็ตก่ก“๏ผ‰ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใง็ถญๆŒใ€ใพใŸใฏไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎกใซใ‚นใƒ†ใƒณใƒˆ็•™็ฝฎใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซไธกๆ–นๅ‘ๆ€งGlennๆ‰‹่ก“ใ€ๅนผๅ…ๆœŸใซใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200249" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅทฆๅฟƒๆˆฟใ€ๅทฆๅฟƒๅฎคใ€ไธŠ่กŒๅคงๅ‹•่„ˆใ€ๅคงๅ‹•่„ˆๅผ“ใซใ„ใŸใ‚‹ๅทฆๅฟƒ็ณปใฎไฝŽๅฝขๆˆใจใ€ๅƒงๅธฝๅผใ€ๅคงๅ‹•่„ˆๅผใฎไฝŽๅฝขๆˆใ€็‹ญ็ช„ใ€ใชใ„ใ—้–‰้Ž–ใ‚’ใจใ‚‚ใชใ†็–พๆ‚ฃใ€‚็”ŸๅพŒใฏใ€่ก€่กŒๅ‹•ๆ…‹ไธŠใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใจๅฟƒๆˆฟ้–“ไบค้€šใŒ็”Ÿๅ‘ฝ็ถญๆŒใซไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚็”ŸๅพŒใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€้ซ˜ๅบฆๅฟƒไธๅ…จใ‚’ใจใ‚‚ใชใ†ใ€‚ๆ‰‹่ก“ใซใ‚ˆใฃใฆใ‚‚ๅณๅฎคใ‚’ไฝ“ๅฟƒๅฎคใจใ—ใŸFontanๆ‰‹่ก“ใงใ—ใ‹ไฟฎๅพฉใงใใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ปๅบฆใฏๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ1.4๏ฝž3.8๏ผ…ใงใ€็ฉๆฅต็š„ๆฒป็™‚ใ‚’ใ—ใชใ„ๅ ดๅˆใ€ๅคงๅŠใฏ1ใ‹ๆœˆไปฅๅ†…ใซๆญปไบกใ™ใ‚‹ใ€‚ๅ† ่ก€ๆตใ‚’ๅซใ‚ใ€ไฝ“่ก€ๆตใŒๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ๅ‹•่„ˆ็ฎกใฎ้–‰้Ž–ใฏใ—ใฐใ—ใฐ่‡ดๅ‘ฝ็š„ใจใชใ‚‹ใ€‚ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใซใ‚ˆใ‚Šductal shock ใ‚’ไบˆ้˜ฒใ™ใ‚‹ใ“ใจใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ใ“ใ‚Œใซใ‚ˆใ‚Šๅง‘ๆฏๆ‰‹่ก“ใพใงๆ‚ฃๅ…ใ‚’่‰ฏๅฅฝใช็Šถๆ…‹ใซไฟใฆใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ใฏๆ–ฐ็”Ÿๅ…ๆœŸใซNorwoodๆ‰‹่ก“๏ผˆ+Blalock-Taussig็Ÿญ็ตก่ก“ใพใŸใฏๅณๅฎคโ€”่‚บๅ‹•่„ˆ็Ÿญ็ตก่ก“๏ผ‰ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ—ใ€ไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1ใง็ถญๆŒใ€ใพใŸใฏไธกๅด่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“+ๅ‹•่„ˆ็ฎกใซใ‚นใƒ†ใƒณใƒˆ็•™็ฝฎใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซไธกๆ–นๅ‘ๆ€งGlennๆ‰‹่ก“ใ€ๅนผๅ…ๆœŸใซใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ™ใ‚‹ใ€‚้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200249" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypoplastic left heart syndrome"@en, "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004933 ; + rdfs:label "Hypoplastic left heart syndrome"@en, "ใ•ใ—ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004933 ; skos:prefLabel "ๅทฆๅฟƒไฝŽๅฝขๆˆ็—‡ๅ€™็พค"@ja . -:2200250 - :hasNotificationNumber "68" ; - terms:description "ๅฝขๆ…‹ๅญฆ็š„ใ€่ก€่กŒๅ‹•ๆ…‹็š„ใซใ€ใฒใจใคใฎๅฟƒๅฎคใ—ใ‹ๅญ˜ๅœจใ—ใชใ„ใ‚‚ใฎใ€‚ใŸใ ใ—ใ€็—•่ทก็š„ใซใ‚‚ใ†ใฒใจใคใฎๅฟƒๅฎคใŒๅญ˜ๅœจใ—ใฆใ‚‚ใ‚ˆใ„ใ€‚็—•่ทก็š„ๅฟƒๅฎคใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใซใฏใ€ใใฎ็—•่ทก็š„ๅฟƒๅฎคใซใฏๆˆฟๅฎคๅผไป˜ๅฑžๅ™จใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ๅทฆๅฎคๅž‹ๅ˜ๅฟƒๅฎคใจๅณๅฎคๅž‹ๅ˜ๅฟƒๅฎคใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใŒๅ›ฐ้›ฃใช็–พๆ‚ฃใฎใฒใจใคใงใ‚ใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅค–็ง‘ๆฒป็™‚ใฎ้€ฒๆญฉใงไบˆๅพŒใŒๆ”นๅ–„ใ•ใ‚ŒใฆใใŸใ€‚่‚บ่ก€ๆตใฎๅคšๅฏกใ‚„่‚บ้™่„ˆใฎ็‹ญ็ช„ใซใ‚ˆใ‚Š่ก€่กŒๅ‹•ๆ…‹ใฏ็•ฐใชใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่‚บ่ก€ๆตใฎๅคšๅฐ‘ใซใ‚ˆใ‚Šไธ‰็พคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚1. ่‚บ่ก€ๆตๅข—ๅŠ ็พคใƒใ‚ขใƒŽใƒผใ‚ผใฏ่ปฝใ„ใŒใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆๅฟƒไธๅ…จใ‚’ๆฅใŸใ—ไบˆๅพŒไธ่‰ฏใชใ‚‚ใฎใŒๅคšใ„ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏๅฟƒไธๅ…จ็—‡็ŠถใŒไธปใงใ‚ใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฏ็›ฎ็ซ‹ใŸใชใ„ใ€‚ๅคงๅ‹•่„ˆๆตๅ‡บ่ทฏใฎ้–‰ๅกžๆ€ง็—…ๅค‰๏ผˆ็ƒๅฎคๅญ”็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใƒป้–‰้Ž–๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚2. ่‘—ใ—ใ„่‚บ่ก€ๆตๆธ›ๅฐ‘็พค้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„้–‰้Ž–ใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Š่‘—ๆ˜Žใชใƒใ‚ขใƒŽใƒผใ‚ผใŒ็พใ‚ŒไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹่ซธ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚Œใฐๅคšใใฏไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ใ€‚้‡ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎๅˆไฝตใงใฏใ€ๅณๅฎคๆ€งๅ˜ๅฟƒๅฎคใจใใซ่‡“ๅ™จๅฟƒๆˆฟ้Œฏไฝใซๅคšใใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใง็™บ็—‡ใ—ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใซใ‚ˆใ‚‹ๅŽ็ธฎๆ€ง้ง†ๅ‡บๆ€ง้›‘้Ÿณใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใซใ‚ˆใ‚‹้€ฃ็ถšๆ€ง้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚3. ้ฉๅบฆใช่‚บ่ก€ๆตใ‚’็คบใ™็พคไธญ็ญ‰ๅบฆไปฅไธ‹ใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใ€่‡จๅบŠ็š„ใซใฏใปใจใ‚“ใฉใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใชใ„ใ‹่ปฝๅบฆใงใ‚ใ‚‹ใ€‚้‹ๅ‹•่ƒฝใฏ่‰ฏใไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๆ‰‹่ก“็„กใ—ใงไธญๅนดๆœŸใพใง็”Ÿๅญ˜ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไปฅไธŠใฎ๏ผ“็พคใฎใฉใ‚Œใงใ‚ใฃใฆใ‚‚ใ€ๅŸบๆœฌ็š„ใซใฏใ€ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏใ€ๅฟƒๅฎคไธญ้š”ๅฝขๆˆ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ้•ทๆœŸไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200250" ; - terms:source ; + + nando:hasNotificationNumber "68" ; + dcterms:description "ๅฝขๆ…‹ๅญฆ็š„ใ€่ก€่กŒๅ‹•ๆ…‹็š„ใซใ€ใฒใจใคใฎๅฟƒๅฎคใ—ใ‹ๅญ˜ๅœจใ—ใชใ„ใ‚‚ใฎใ€‚ใŸใ ใ—ใ€็—•่ทก็š„ใซใ‚‚ใ†ใฒใจใคใฎๅฟƒๅฎคใŒๅญ˜ๅœจใ—ใฆใ‚‚ใ‚ˆใ„ใ€‚็—•่ทก็š„ๅฟƒๅฎคใŒๅญ˜ๅœจใ™ใ‚‹ๅ ดๅˆใซใฏใ€ใใฎ็—•่ทก็š„ๅฟƒๅฎคใซใฏๆˆฟๅฎคๅผไป˜ๅฑžๅ™จใฏๅญ˜ๅœจใ—ใชใ„ใ€‚ๅทฆๅฎคๅž‹ๅ˜ๅฟƒๅฎคใจๅณๅฎคๅž‹ๅ˜ๅฟƒๅฎคใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใŒๅ›ฐ้›ฃใช็–พๆ‚ฃใฎใฒใจใคใงใ‚ใ‚‹ใŒใ€่ฟ‘ๅนดใฎๅค–็ง‘ๆฒป็™‚ใฎ้€ฒๆญฉใงไบˆๅพŒใŒๆ”นๅ–„ใ•ใ‚ŒใฆใใŸใ€‚่‚บ่ก€ๆตใฎๅคšๅฏกใ‚„่‚บ้™่„ˆใฎ็‹ญ็ช„ใซใ‚ˆใ‚Š่ก€่กŒๅ‹•ๆ…‹ใฏ็•ฐใชใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏใ€่‚บ่ก€ๆตใฎๅคšๅฐ‘ใซใ‚ˆใ‚Šไธ‰็พคใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚1. ่‚บ่ก€ๆตๅข—ๅŠ ็พคใƒใ‚ขใƒŽใƒผใ‚ผใฏ่ปฝใ„ใŒใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆๅฟƒไธๅ…จใ‚’ๆฅใŸใ—ไบˆๅพŒไธ่‰ฏใชใ‚‚ใฎใŒๅคšใ„ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏๅฟƒไธๅ…จ็—‡็ŠถใŒไธปใงใ‚ใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฏ็›ฎ็ซ‹ใŸใชใ„ใ€‚ๅคงๅ‹•่„ˆๆตๅ‡บ่ทฏใฎ้–‰ๅกžๆ€ง็—…ๅค‰๏ผˆ็ƒๅฎคๅญ”็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„ใƒป้–‰้Ž–๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็ตžๆ‰ผ่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚2. ่‘—ใ—ใ„่‚บ่ก€ๆตๆธ›ๅฐ‘็พค้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„้–‰้Ž–ใŒใ‚ใ‚‹ใจใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Š่‘—ๆ˜Žใชใƒใ‚ขใƒŽใƒผใ‚ผใŒ็พใ‚ŒไฝŽ้…ธ็ด ่ก€็—‡ใซใ‚ˆใ‚‹่ซธ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚Œใฐๅคšใใฏไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹ใ€‚้‡ๅบฆใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚„่‚บๅ‹•่„ˆ้–‰้Ž–ใฎๅˆไฝตใงใฏใ€ๅณๅฎคๆ€งๅ˜ๅฟƒๅฎคใจใใซ่‡“ๅ™จๅฟƒๆˆฟ้Œฏไฝใซๅคšใใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š้ซ˜ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใง็™บ็—‡ใ—ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใซใ‚ˆใ‚‹ๅŽ็ธฎๆ€ง้ง†ๅ‡บๆ€ง้›‘้Ÿณใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใซใ‚ˆใ‚‹้€ฃ็ถšๆ€ง้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚3. ้ฉๅบฆใช่‚บ่ก€ๆตใ‚’็คบใ™็พคไธญ็ญ‰ๅบฆไปฅไธ‹ใฎ่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ—ใ€่‡จๅบŠ็š„ใซใฏใปใจใ‚“ใฉใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใชใ„ใ‹่ปฝๅบฆใงใ‚ใ‚‹ใ€‚้‹ๅ‹•่ƒฝใฏ่‰ฏใไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ไบˆๅพŒใฏใ€ๆ‰‹่ก“็„กใ—ใงไธญๅนดๆœŸใพใง็”Ÿๅญ˜ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไปฅไธŠใฎ๏ผ“็พคใฎใฉใ‚Œใงใ‚ใฃใฆใ‚‚ใ€ๅŸบๆœฌ็š„ใซใฏใ€ใƒ•ใ‚ฉใƒณใ‚ฟใƒณๅž‹ๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚่‚บ่ก€ๆตๅข—ๅŠ ็พคใงใฏใ€ๅฟƒๅฎคไธญ้š”ๅฝขๆˆ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใฎ้•ทๆœŸไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200250" ; + dcterms:source ; a owl:Class ; - rdfs:label "Single ventricle"@en, "ๅ˜ๅฟƒๅฎค็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Single ventricle"@en, "ใŸใ‚“ใ—ใ‚“ใ—ใคใ—ใ‚‡ใ†"@ja-Hira, "ๅ˜ๅฟƒๅฎค็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015451 ; skos:prefLabel "ๅ˜ๅฟƒๅฎค็—‡"@ja . -:2200251 - :hasNotificationNumber "24" ; - terms:description "ไธ‰ๅฐ–ๅผๅฃใŒ็ญ‹ๆ€ง้–‰้Ž–ใ—ใฆๅฟƒๆˆฟใจๅณๅฟƒๅฎคใฎไบค้€šใŒ้ฎๆ–ญใ•ใ‚ŒใŸๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅณๅฟƒๆˆฟใธ้‚„ใฃใฆใใŸ้™่„ˆ่ก€ใฏๅ…จใฆๅฟƒๆˆฟ้–“ไบค้€šใ‚’้€šใ‚Šๅทฆๅฟƒๆˆฟใธๆตใ‚Œใ€ๆฉŸ่ƒฝ็š„ใชๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใฎๆœ‰็„กใจๅฟƒๅฎคๅคง่ก€็ฎกใฎ้–ขไฟ‚ใงๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใชใ„ใจ่‚บ้ซ˜่ก€ๅœงใจใชใ‚‹ใ€‚ใ™ใชใ‚ใกใ€Keith-Edwardsใฎๅˆ†้กžใงใฏโ… ๅž‹ใฏๆญฃๅธธๅคง่ก€็ฎก้–ขไฟ‚ใ€โ…กๅž‹ใฏdๅž‹ๅคง่ก€็ฎก่ปขๆ›ใฎใ‚‚ใฎใจใชใ‚Šใ€ใใ‚Œใžใ‚Œใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ‚’ไผดใ†ใ‚‚ใฎใŒaๅž‹ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒbๅž‹ใ€่‚บ้ซ˜่ก€ๅœงใซใชใ‚‹cๅž‹ใจๅˆ†้กžใ•ใ‚Œใ€็ต„ใฟๅˆใ‚ใ›ใงโ… ๏ฝ‚ใชใฉใจ่กจ็พใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใฎๅž‹ใ‚‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ใชใใ™ใซใฏใ€Fontanๆ‰‹่ก“ใ—ใ‹ใชใ„ใ€‚Fontanๆ‰‹่ก“ใŒๆˆ็ซ‹ใ™ใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅญ˜็Ž‡ใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€Fontanๆ‰‹่ก“๏ผ’๏ผๅนดไปฅไธŠ็ตŒ้Žใ™ใ‚‹ใจใ€ๆง˜ใ€…ใชFontan่ก“ๅพŒ็—‡ๅ€™็พคใŒ็™บ็—‡ใ—ใฆใ€้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200251" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ไธ‰ๅฐ–ๅผๅฃใŒ็ญ‹ๆ€ง้–‰้Ž–ใ—ใฆๅฟƒๆˆฟใจๅณๅฟƒๅฎคใฎไบค้€šใŒ้ฎๆ–ญใ•ใ‚ŒใŸๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅณๅฟƒๆˆฟใธ้‚„ใฃใฆใใŸ้™่„ˆ่ก€ใฏๅ…จใฆๅฟƒๆˆฟ้–“ไบค้€šใ‚’้€šใ‚Šๅทฆๅฟƒๆˆฟใธๆตใ‚Œใ€ๆฉŸ่ƒฝ็š„ใชๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใƒป้–‰้Ž–ใฎๆœ‰็„กใจๅฟƒๅฎคๅคง่ก€็ฎกใฎ้–ขไฟ‚ใงๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใชใ„ใจ่‚บ้ซ˜่ก€ๅœงใจใชใ‚‹ใ€‚ใ™ใชใ‚ใกใ€Keith-Edwardsใฎๅˆ†้กžใงใฏโ… ๅž‹ใฏๆญฃๅธธๅคง่ก€็ฎก้–ขไฟ‚ใ€โ…กๅž‹ใฏdๅž‹ๅคง่ก€็ฎก่ปขๆ›ใฎใ‚‚ใฎใจใชใ‚Šใ€ใใ‚Œใžใ‚Œใ€่‚บๅ‹•่„ˆ้–‰้Ž–ใ‚’ไผดใ†ใ‚‚ใฎใŒaๅž‹ใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒbๅž‹ใ€่‚บ้ซ˜่ก€ๅœงใซใชใ‚‹cๅž‹ใจๅˆ†้กžใ•ใ‚Œใ€็ต„ใฟๅˆใ‚ใ›ใงโ… ๏ฝ‚ใชใฉใจ่กจ็พใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใฎๅž‹ใ‚‚ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ใชใใ™ใซใฏใ€Fontanๆ‰‹่ก“ใ—ใ‹ใชใ„ใ€‚Fontanๆ‰‹่ก“ใŒๆˆ็ซ‹ใ™ใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅญ˜็Ž‡ใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€Fontanๆ‰‹่ก“๏ผ’๏ผๅนดไปฅไธŠ็ตŒ้Žใ™ใ‚‹ใจใ€ๆง˜ใ€…ใชFontan่ก“ๅพŒ็—‡ๅ€™็พคใŒ็™บ็—‡ใ—ใฆใ€้•ทๆœŸไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200251" ; + dcterms:source ; a owl:Class ; - rdfs:label "Tricuspid atresia"@en, "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011514 ; + rdfs:label "Tricuspid atresia"@en, "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011514 ; skos:prefLabel "ไธ‰ๅฐ–ๅผ้–‰้Ž–็—‡"@ja . -:2200252 - :hasNotificationNumber "84" ; - terms:description "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ใ€‚ใ„ใ‚ใ‚†ใ‚‹ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใฎๅฝขๆ…‹ใจใชใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใชใ„ใ—ใฏไธป่ฆไฝ“่‚บๅดๅ‰ฏ่ก€็ฎก๏ผˆMAPCA๏ผ‰ใง่ณ„ใ‚ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใพใŸใฏใ€ไฝ“่‚บๅดๅ‰ฏ่ก€็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€ใใ‚Œใ‚‰ใฎ่ก€็ฎกใฎ้–‹ๅญ˜็Šถๆณใซใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฎ็จ‹ๅบฆใซๅทฎใŒใ‚ใ‚‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚„ๅดๅ‰ฏ่ก€็ฎกใซใ‚ˆใ‚‹้€ฃ็ถšๆ€งๅฟƒ้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚ๅง‘ๆฏ่ก“ใจใ—ใฆใ€็ดฐใ„่‚บๅ‹•่„ˆใซๅฏพใ—็Ÿญ็ตก่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚MAPCAใŒๅคšๆ•ฐๅญ˜ๅœจใ—ๅŒบๅŸŸ่‚บๅ‹•่„ˆใ‚’ไธญๅฟƒ่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๅ ดๅˆใซใฏuniforcalization:UFใ‚’ๅฎŸๆ–ฝใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฎๆˆ้•ทใ‚’ๅพ…ใฃใฆใ€ๅฐ†ๆฅ็š„ใซใฏๅฟƒๅ†…ไฟฎๅพฉ่ก“ใจๅณๅฎคๆตๅ‡บ่ทฏๅ†ๅปบ่ก“๏ผˆRastelliๆณ•๏ผ‰ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Rastelliๆ‰‹่ก“ๅพŒใ‚‚ใ€้ ้š”ๆœŸใซๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใฃใŸใ‚Šใ€ไธๆ•ด่„ˆใ‚„ๅฟƒๆฉŸ่ƒฝไธๅ…จใซใชใฃใŸใ‚Šใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200252" ; - terms:source ; - a owl:Class ; - rdfs:label "Pulmonary atresia with ventricular septal defect"@en, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008343 ; + + nando:hasNotificationNumber "84" ; + dcterms:description "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ใ€‚ใ„ใ‚ใ‚†ใ‚‹ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใฎๅฝขๆ…‹ใจใชใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใชใ„ใ—ใฏไธป่ฆไฝ“่‚บๅดๅ‰ฏ่ก€็ฎก๏ผˆMAPCA๏ผ‰ใง่ณ„ใ‚ใ‚Œใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใพใŸใฏใ€ไฝ“่‚บๅดๅ‰ฏ่ก€็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€ใใ‚Œใ‚‰ใฎ่ก€็ฎกใฎ้–‹ๅญ˜็Šถๆณใซใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใฎ็จ‹ๅบฆใซๅทฎใŒใ‚ใ‚‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚„ๅดๅ‰ฏ่ก€็ฎกใซใ‚ˆใ‚‹้€ฃ็ถšๆ€งๅฟƒ้›‘้Ÿณใ‚’่ดๅ–ใ™ใ‚‹ใ€‚ๅง‘ๆฏ่ก“ใจใ—ใฆใ€็ดฐใ„่‚บๅ‹•่„ˆใซๅฏพใ—็Ÿญ็ตก่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚MAPCAใŒๅคšๆ•ฐๅญ˜ๅœจใ—ๅŒบๅŸŸ่‚บๅ‹•่„ˆใ‚’ไธญๅฟƒ่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๅ ดๅˆใซใฏuniforcalization:UFใ‚’ๅฎŸๆ–ฝใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฎๆˆ้•ทใ‚’ๅพ…ใฃใฆใ€ๅฐ†ๆฅ็š„ใซใฏๅฟƒๅ†…ไฟฎๅพฉ่ก“ใจๅณๅฎคๆตๅ‡บ่ทฏๅ†ๅปบ่ก“๏ผˆRastelliๆณ•๏ผ‰ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Rastelliๆ‰‹่ก“ๅพŒใ‚‚ใ€้ ้š”ๆœŸใซๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใฃใŸใ‚Šใ€ไธๆ•ด่„ˆใ‚„ๅฟƒๆฉŸ่ƒฝไธๅ…จใซใชใฃใŸใ‚Šใ—ใฆใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200252" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pulmonary atresia with ventricular septal defect"@en, "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja ; + skos:closeMatch obo:MONDO_0008343 ; skos:prefLabel "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja . -:2200253 - :hasNotificationNumber "85" ; - terms:description "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„็Šถๆ…‹ใ‚’ใ€็ด”ๅž‹่‚บๅ‹•่„ˆ้–‰้Ž–ใจๅ‘ผใถใ€‚้‡็—‡่‚บๅ‹•่„ˆ็‹ญ็ช„ใจๅŒๆง˜ใซๅณๅฎคไฝŽๅฝขๆˆใ‚’ไผดใ†ใ“ใจใŒๅคšใ„๏ผˆๅณๅฎคไฝŽๅฝขๆˆ็—‡ๅ€™็พค๏ผ‰ใ€‚็”Ÿๅญ˜ใซใฏๅฟƒๆˆฟ้–“ไบค้€šใŒๅฟ…้ ˆใงๅณๆˆฟ่ก€ใฏๅทฆๆˆฟใธ่ฟ‚ๅ›žใ™ใ‚‹ใ€‚ใพใŸใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ€‚ๅณๅฎคใจๅ† ๅ‹•่„ˆใŒไบค้€šใ—ใฆใ„ใ‚‹้กžๆดžไบค้€šใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚้กžๆดžไบค้€šใซไผดใฃใฆใ€ๅ† ๅ‹•่„ˆใŒ็‹ญ็ช„ใ—ใŸใ‚Š้€”ไธญใง้€”็ตถใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ใใฎๅ ดๅˆใ€ๅ† ๅ‹•่„ˆ่ก€ๆตใฏ้ซ˜ใ„ๅณๅฎคๅœงใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200253" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:description "่‚บๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผไธ‹ใ€ใพใŸใฏ่‚บๅ‹•่„ˆๅผไธŠใง้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„็Šถๆ…‹ใ‚’ใ€็ด”ๅž‹่‚บๅ‹•่„ˆ้–‰้Ž–ใจๅ‘ผใถใ€‚้‡็—‡่‚บๅ‹•่„ˆ็‹ญ็ช„ใจๅŒๆง˜ใซๅณๅฎคไฝŽๅฝขๆˆใ‚’ไผดใ†ใ“ใจใŒๅคšใ„๏ผˆๅณๅฎคไฝŽๅฝขๆˆ็—‡ๅ€™็พค๏ผ‰ใ€‚็”Ÿๅญ˜ใซใฏๅฟƒๆˆฟ้–“ไบค้€šใŒๅฟ…้ ˆใงๅณๆˆฟ่ก€ใฏๅทฆๆˆฟใธ่ฟ‚ๅ›žใ™ใ‚‹ใ€‚ใพใŸใ€่‚บ่ก€ๆตใฏๅ‹•่„ˆ็ฎกใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ€‚ๅณๅฎคใจๅ† ๅ‹•่„ˆใŒไบค้€šใ—ใฆใ„ใ‚‹้กžๆดžไบค้€šใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚้กžๆดžไบค้€šใซไผดใฃใฆใ€ๅ† ๅ‹•่„ˆใŒ็‹ญ็ช„ใ—ใŸใ‚Š้€”ไธญใง้€”็ตถใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚Šใ€ใใฎๅ ดๅˆใ€ๅ† ๅ‹•่„ˆ่ก€ๆตใฏ้ซ˜ใ„ๅณๅฎคๅœงใซไพๅญ˜ใ—ใฆใ„ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200253" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary atresia with intact ventricular septum"@en, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009931 ; + rdfs:label "Pulmonary atresia with intact ventricular septum"@en, "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ‚ใชใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009931 ; skos:prefLabel "ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ‚ใชใ„่‚บๅ‹•่„ˆ้–‰้Ž–็—‡"@ja . -:2200254 - :hasNotificationNumber "89" ; - terms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผˆtetralogy of Fallot๏ผ‰ใฎๅ››ๅพดใจใฏใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผˆVSD๏ผ‰ใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„๏ผˆPS๏ผ‰ใ€โ‘ขๅคงๅ‹•่„ˆ้จŽไน—ใ€โ‘ฃๅณๅฎค่‚ฅๅคงใ‚’ๆŒ‡ใ™ใ€‚็™บ็”Ÿๅญฆ็š„ใซใฏๅฟƒๅฎคไธญ้š”ใฎๆผๆ–—้ƒจใจใ„ใ†่‚บๅ‹•่„ˆใซ่ฟ‘ใ„้ƒจๅˆ†ใฎไธญ้š”ใŒๅ‰ๆ–น๏ผˆๅณๅฎคๅด๏ผ‰ใซๅไฝใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚ŠVSDใจPS๏ผˆๆญฃ็ขบใซ่จ€ใ†ใจๅณๅฎคใฎๆตๅ‡บ่ทฏ็‹ญ็ช„๏ผ‰ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใจใฎ้•ใ„ใฏใ€ๆœฌ็—‡ใงใฏๅƒงๅธฝๅผใจๅคงๅ‹•่„ˆๅผใฏ็ทš็ถญๆ€งใซ้€ฃ็ถšใ—ใฆใ„ใ‚‹็‚นใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅน…ๅบƒใ„่‡จๅบŠๅƒใ‚’็คบใ™ใŒใ€ไธๅฎ‰ๅฎšใ‹ใค้€ฒ่กŒๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใจใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅค–็ง‘ๆฒป็™‚ใชใ—ใงใฏ็”Ÿๅ‘ฝไบˆๅพŒใฏ1ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€3ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๆญปไบกๅŽŸๅ› ใจใ—ใฆใฏไฝŽ้…ธ็ด ็™บไฝœใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใงใ€ๅนด้•ทๅ…ใงใฏๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซๆ‰‹่ก“ไพ‹ใฎ้•ทๆœŸไบˆๅพŒใฏ่‰ฏๅฅฝใง่ก“ๅพŒ30ๅนดใฎ็”Ÿๅญ˜็Ž‡ใฏ98๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅ้™ใซใฏใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใงใ€ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใฃใŸใ‚Šใ€ๅฟƒไธๅ…จใซใชใฃใŸใ‚Šใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200254" ; - terms:source ; - a owl:Class ; - rdfs:label "Tetralogy of Fallot"@en, "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Fallotๅ››ๅพด็—‡"@ja ; - skos:closeMatch mondo:MONDO_0008542 ; + + nando:hasNotificationNumber "89" ; + dcterms:description "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผˆtetralogy of Fallot๏ผ‰ใฎๅ››ๅพดใจใฏใ€โ‘ ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผˆVSD๏ผ‰ใ€โ‘ก่‚บๅ‹•่„ˆ็‹ญ็ช„๏ผˆPS๏ผ‰ใ€โ‘ขๅคงๅ‹•่„ˆ้จŽไน—ใ€โ‘ฃๅณๅฎค่‚ฅๅคงใ‚’ๆŒ‡ใ™ใ€‚็™บ็”Ÿๅญฆ็š„ใซใฏๅฟƒๅฎคไธญ้š”ใฎๆผๆ–—้ƒจใจใ„ใ†่‚บๅ‹•่„ˆใซ่ฟ‘ใ„้ƒจๅˆ†ใฎไธญ้š”ใŒๅ‰ๆ–น๏ผˆๅณๅฎคๅด๏ผ‰ใซๅไฝใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚ŠVSDใจPS๏ผˆๆญฃ็ขบใซ่จ€ใ†ใจๅณๅฎคใฎๆตๅ‡บ่ทฏ็‹ญ็ช„๏ผ‰ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใจใฎ้•ใ„ใฏใ€ๆœฌ็—‡ใงใฏๅƒงๅธฝๅผใจๅคงๅ‹•่„ˆๅผใฏ็ทš็ถญๆ€งใซ้€ฃ็ถšใ—ใฆใ„ใ‚‹็‚นใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅน…ๅบƒใ„่‡จๅบŠๅƒใ‚’็คบใ™ใŒใ€ไธๅฎ‰ๅฎšใ‹ใค้€ฒ่กŒๆ€งไฝŽ้…ธ็ด ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใจใ—ใฆ่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆๆฅตๅž‹ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅค–็ง‘ๆฒป็™‚ใชใ—ใงใฏ็”Ÿๅ‘ฝไบˆๅพŒใฏ1ๅนด็”Ÿๅญ˜็Ž‡ใฏ75๏ผ…ใ€3ๅนด็”Ÿๅญ˜็Ž‡ใฏ60๏ผ…ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ30๏ผ…ใจ่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๆญปไบกๅŽŸๅ› ใจใ—ใฆใฏไฝŽ้…ธ็ด ็™บไฝœใ€่„ณๆข—ๅกžใ€่„ณ่†ฟ็˜ใงใ€ๅนด้•ทๅ…ใงใฏๅฟƒไธๅ…จใ€่…Žไธๅ…จใชใฉใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซๆ‰‹่ก“ไพ‹ใฎ้•ทๆœŸไบˆๅพŒใฏ่‰ฏๅฅฝใง่ก“ๅพŒ30ๅนดใฎ็”Ÿๅญ˜็Ž‡ใฏ98๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅ้™ใซใฏใ€่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚„ๅณๅฟƒๆฉŸ่ƒฝไธๅ…จใงใ€ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใฃใŸใ‚Šใ€ๅฟƒไธๅ…จใซใชใฃใŸใ‚Šใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200254" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tetralogy of Fallot"@en, "ใตใใ‚ใƒผใ—ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Fallot's Tetralogy"@en, "Fallotๅ››ๅพด็—‡"@ja ; + skos:closeMatch obo:MONDO_0008542 ; skos:prefLabel "ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡"@ja . -:2200255 - :hasNotificationNumber "96" ; - terms:description "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ๅคงๅ‹•่„ˆใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใฏๅคงๅ‹•่„ˆใฎๅณๆจช๏ผˆside by side๏ผ‰ใ‹ๅณๅพŒ๏ผˆtrue Taussig Bing heart๏ผ‰ใฎใ“ใจใ‚„ใ€ๅณๅ‰๏ผˆfalse Taussig Bing heart๏ผ‰ใซใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡DORVใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฏๅฟƒๅฎคไธญ้š”ใซ้จŽไน—ใ—ใ€่‚บๅ‹•่„ˆๅผไธ‹ใซๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใฎโ…กๅž‹ใซ้กžไผผใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใจ่‚บๅ‹•่„ˆๅผไธ‹ใซconusใŒๅญ˜ๅœจใ™ใ‚‹๏ผˆdouble conus๏ผ‰ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅทฆๅฎคใฎ้ง†ๅ‡บ่ก€ใฏใ€็›ดๆŽฅ่‚บๅ‹•่„ˆใธ้ง†ๅ‡บใ•ใ‚Œใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅคง่ก€็ฎก่ปขๆ›ใจ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ‚„ใ™ใ„ใ€‚ๆ‰‹่ก“ใฏๅŸบๆœฌ็š„ใซใฏๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“๏ผˆJatene่ก“๏ผ‰ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ‰‹่ก“ใฎ้›ฃๆ˜“ๅบฆใฏ้ซ˜ใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200255" ; - terms:source ; + + nando:hasNotificationNumber "97" ; + dcterms:description "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ๅคงๅ‹•่„ˆใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใฏๅคงๅ‹•่„ˆใฎๅณๆจช๏ผˆside by side๏ผ‰ใ‹ๅณๅพŒ๏ผˆtrue Taussig Bing heart๏ผ‰ใฎใ“ใจใ‚„ใ€ๅณๅ‰๏ผˆfalse Taussig Bing heart๏ผ‰ใซใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡DORVใฎไธ€็จฎใงใ‚ใ‚‹ใ€‚่‚บๅ‹•่„ˆใฏๅฟƒๅฎคไธญ้š”ใซ้จŽไน—ใ—ใ€่‚บๅ‹•่„ˆๅผไธ‹ใซๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใฎโ…กๅž‹ใซ้กžไผผใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใจ่‚บๅ‹•่„ˆๅผไธ‹ใซconusใŒๅญ˜ๅœจใ™ใ‚‹๏ผˆdouble conus๏ผ‰ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅทฆๅฎคใฎ้ง†ๅ‡บ่ก€ใฏใ€็›ดๆŽฅ่‚บๅ‹•่„ˆใธ้ง†ๅ‡บใ•ใ‚Œใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅคง่ก€็ฎก่ปขๆ›ใจ้กžไผผใฎ่ก€่กŒๅ‹•ๆ…‹ใจใชใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅ‘ผๅธๅ›ฐ้›ฃใ‚„ๅฟƒไธๅ…จใ‚’ๅ‘ˆใ—ใ‚„ใ™ใ„ใ€‚ๆ‰‹่ก“ใฏๅŸบๆœฌ็š„ใซใฏๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“๏ผˆJatene่ก“๏ผ‰ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ๆ‰‹่ก“ใฎ้›ฃๆ˜“ๅบฆใฏ้ซ˜ใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใƒป้›ขๆ–ญใŒๅˆไฝตใ™ใ‚‹ใจไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200255" ; + dcterms:source ; a owl:Class ; - rdfs:label "Taussig-Bing anomaly"@en, "ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข"@ja ; + rdfs:label "Taussig-Bing anomaly"@en, "ใŸใ†ใ˜ใฃใฒใƒปใณใ‚“ใใใ‘ใ„"@ja-Hira, "ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Taussig-Bingๅฅ‡ๅฝข"@ja ; skos:prefLabel "ใ‚ฟใ‚ฆใ‚ธใƒƒใƒ’ใƒปใƒ“ใƒณใ‚ฐๅฅ‡ๅฝข"@ja . -:2200256 - :hasNotificationNumber "97" ; - terms:description "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ใฒใจใคใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€ไป–ใฎใฒใจใคใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…จๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ็ด„1.5๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง้€ฃ็ถšใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆVSDใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใจๅคง่ก€็ฎก็›ธไบ’ใฎไฝ็ฝฎ้–ขไฟ‚ใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใฏโ‘ ๅคงๅ‹•่„ˆๅผไธ‹subaortic โ‘ก่‚บๅ‹•่„ˆๅผไธ‹subpulmonic โ‘ขไธกๅŠๆœˆๅผไธ‹doubly committed(โ‘ ๏ผ‹โ‘ก) โ‘ฃ้ ไฝๅž‹remote(non-committed)ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅคง่ก€็ฎก้–ขไฟ‚ใฏdๅž‹ใ€lๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚Taussig๏ผBingๅฅ‡ๅฝขใฏไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใฎไธญใงใ€ไธกๅคง่ก€็ฎกใŒside by sideใซใชใ‚‰ใณใ€่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใฎใŸใ‚ใซ่‚บๅ‹•่„ˆใŒไธญ้š”ใซ้จŽไน—ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไผดใ‚ใชใ„ๅž‹ใงใ€ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ๅž‹ใงใฏPHใฎ้€ฒ่กŒใŒ้€šๅธธใฎVSDใ‚ˆใ‚Š้€Ÿใ„ใฎใงไนณๅ…ๆœŸใฎไธ€ๆœŸ็š„ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆœ›ใพใ—ใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใ‚ใ‚‹ๅž‹ใงใฏใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจๅŒๆง˜ใซ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใŒใ‚ใ‚Œใฐ็Ÿญ็ตก่ก“ใชใฉใฎๅง‘ๆฏ่ก“ใฎๅพŒใซRastelliๆ‰‹่ก“ใŒๅฎŸๆ–ฝใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹DORVใงใฏๅคง่ก€็ฎก่ปขๆ›็—‡ใจๅŒๆง˜ใซๅคง่ก€็ฎกใ‚นใ‚ฃใƒƒใƒ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้ ไฝๅž‹VSDใงใฏFontanๅž‹ๆ‰‹่ก“ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไธ€่ˆฌใซใ€ๆœฌ็—‡ใฏ้‡็—‡ใงใ€่ก“ๅพŒใฎๅ•้กŒใŒ็™บ็”Ÿใ™ใ‚‹็Ž‡ใ‚‚้ซ˜ใใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200256" ; - terms:source ; + + nando:hasNotificationNumber "98" ; + dcterms:description "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใฎใ†ใกใ€ใฒใจใคใฏๅณๅฎคใ‹ใ‚‰ๅฎŒๅ…จใซ่ตทๅง‹ใ—ใฆใŠใ‚Šใ€ไป–ใฎใฒใจใคใŒ50%ไปฅไธŠๅณๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ…จๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใฎ็ด„1.5๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏๅƒงๅธฝๅผใจ็ทš็ถญๆ€ง้€ฃ็ถšใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆVSDใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใจๅคง่ก€็ฎก็›ธไบ’ใฎไฝ็ฝฎ้–ขไฟ‚ใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎ้ƒจไฝใฏโ‘ ๅคงๅ‹•่„ˆๅผไธ‹subaortic โ‘ก่‚บๅ‹•่„ˆๅผไธ‹subpulmonic โ‘ขไธกๅŠๆœˆๅผไธ‹doubly committed(โ‘ ๏ผ‹โ‘ก) โ‘ฃ้ ไฝๅž‹remote(non-committed)ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅคง่ก€็ฎก้–ขไฟ‚ใฏdๅž‹ใ€lๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚Taussig๏ผBingๅฅ‡ๅฝขใฏไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใฎไธญใงใ€ไธกๅคง่ก€็ฎกใŒside by sideใซใชใ‚‰ใณใ€่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใฎใŸใ‚ใซ่‚บๅ‹•่„ˆใŒไธญ้š”ใซ้จŽไน—ใ—ใฆใŠใ‚Šใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไผดใ‚ใชใ„ๅž‹ใงใ€ใ—ใฐใ—ใฐใ€ๅคงๅ‹•่„ˆ้›ขๆ–ญใ‚„ๅคงๅ‹•่„ˆ็ธฎ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ๅž‹ใงใฏPHใฎ้€ฒ่กŒใŒ้€šๅธธใฎVSDใ‚ˆใ‚Š้€Ÿใ„ใฎใงไนณๅ…ๆœŸใฎไธ€ๆœŸ็š„ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใŒๆœ›ใพใ—ใ„ใ€‚ๅคงๅ‹•่„ˆๅผไธ‹ใƒปไธกๅŠๆœˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹ๅž‹ใง่‚บๅ‹•่„ˆ็‹ญ็ช„ใŒใ‚ใ‚‹ๅž‹ใงใฏใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใจๅŒๆง˜ใซ่‚บๅ‹•่„ˆไฝŽๅฝขๆˆใŒใ‚ใ‚Œใฐ็Ÿญ็ตก่ก“ใชใฉใฎๅง‘ๆฏ่ก“ใฎๅพŒใซRastelliๆ‰‹่ก“ใŒๅฎŸๆ–ฝใ•ใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅผไธ‹ใฎVSDใ‚’ๆœ‰ใ™ใ‚‹DORVใงใฏๅคง่ก€็ฎก่ปขๆ›็—‡ใจๅŒๆง˜ใซๅคง่ก€็ฎกใ‚นใ‚ฃใƒƒใƒ่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚้ ไฝๅž‹VSDใงใฏFontanๅž‹ๆ‰‹่ก“ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚ไธ€่ˆฌใซใ€ๆœฌ็—‡ใฏ้‡็—‡ใงใ€่ก“ๅพŒใฎๅ•้กŒใŒ็™บ็”Ÿใ™ใ‚‹็Ž‡ใ‚‚้ซ˜ใใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200256" ; + dcterms:source ; a owl:Class ; - rdfs:label "Double-outlet right ventricle"@en, "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016581, mondo:MONDO_0018089 ; + rdfs:label "Double outlet right ventricle"@en, "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ†ใ—ใคใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018089 ; skos:prefLabel "ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡"@ja . -:2200257 - :hasNotificationNumber "98" ; - terms:description "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใจใ‚‚ใซๅทฆๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏไธ‰ๅฐ–ๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏๅคงๅ‹•่„ˆๅผไธ‹ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ใใฎๅ ดๅˆใซใฏ่‚บ่ก€ๆตใŒๆธ›ๅฐ‘ใ—ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ไพ‹ใงใฏใ€่‚บ่ก€ๆตใฏๅข—ๅŠ ใ—ใฆ่‚บ้ซ˜่ก€ๅœงใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใซใฏRastelliๆ‰‹่ก“ใ€ๅณๅฎคๆตๅ‡บ่ทฏๅฝขๆˆ่ก“ใ€ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ€Fontanๅž‹ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ๆ‰‹่ก“ๅฝขๅผใซใ‚ˆใ‚‹ใŒใ€้‡็—‡ใช็–พๆ‚ฃใงใ€ไบˆๅพŒไธ่‰ฏใชใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "2200257" ; - terms:source ; + + nando:hasNotificationNumber "99" ; + dcterms:description "่‚บๅ‹•่„ˆใจๅคงๅ‹•่„ˆใฎไธกๅคง่ก€็ฎกใจใ‚‚ใซๅทฆๅฎคใ‹ใ‚‰่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆๅผใ€่‚บๅ‹•่„ˆๅผใฏไธ‰ๅฐ–ๅผใจ็ทš็ถญๆ€ง็ตๅˆใŒใชใ„ใฎใŒๆ™ฎ้€šใงใ‚ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏๅคงๅ‹•่„ˆๅผไธ‹ใซๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ใใฎๅ ดๅˆใซใฏ่‚บ่ก€ๆตใŒๆธ›ๅฐ‘ใ—ใƒใ‚ขใƒŽใƒผใ‚ผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎใชใ„ไพ‹ใงใฏใ€่‚บ่ก€ๆตใฏๅข—ๅŠ ใ—ใฆ่‚บ้ซ˜่ก€ๅœงใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใซใฏRastelliๆ‰‹่ก“ใ€ๅณๅฎคๆตๅ‡บ่ทฏๅฝขๆˆ่ก“ใ€ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ€Fontanๅž‹ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ๆ‰‹่ก“ๅฝขๅผใซใ‚ˆใ‚‹ใŒใ€้‡็—‡ใช็–พๆ‚ฃใงใ€ไบˆๅพŒไธ่‰ฏใชใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200257" ; + dcterms:source ; a owl:Class ; - rdfs:label "Double-outlet left ventricle"@en, "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡"@ja ; + rdfs:label "Double-outlet left ventricle"@en, "ใ‚Šใ‚‡ใ†ใ ใ„ใ‘ใฃใ‹ใ‚“ใ•ใ—ใคใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018090 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018090 ; skos:prefLabel "ไธกๅคง่ก€็ฎกๅทฆๅฎค่ตทๅง‹็—‡"@ja . -:2200258 - :hasNotificationNumber "8" ; - terms:description "ๅณๅฟƒๆˆฟใจๅณๅฎคใ€ๅทฆๅฟƒๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹ใซๅˆ†้กžใ™ใ‚‹ใ€‚ไฝ“่ก€ๆตใฏ้…ธ็ด ้ฃฝๅ’ŒๅบฆใŒไฝŽใๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„ๅž‹ใงใฏ็‰นใซใƒใ‚ขใƒŽใƒผใ‚ผใŒ็›ฎ็ซ‹ใคใ€‚ๅฟƒๆˆฟ้–“ไบค้€šใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒ็”Ÿๅญ˜ใซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ† ็Šถๅ‹•่„ˆใฎ่ตฐ่กŒใซใ‚‚ๅคšใใฎๅž‹ใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ๆ™‚ใซใฏ้‡่ฆใชๆ‰€่ฆ‹ใจใชใ‚‹ใ€‚ๆฒป็™‚ไป‹ๅ…ฅใชใ—ใงใฏ1ใƒถๆœˆใง50๏ผ…ใŒใ€6ใƒถๆœˆใง85๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚่‡ช็„ถๆญดใงใฏIๅž‹ใŒๆœ€ใ‚‚ไบˆๅพŒไธ่‰ฏใง1ใƒถๆœˆใงไฝŽ้…ธ็ด ใฎใŸใ‚80๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚IIๅž‹ใงใฏ1ใƒถๆœˆใง10๏ผ…ๆญปไบกใ—ใ€IIIๅž‹ใฎ่‡ช็„ถๆญดใŒๆœ€ใ‚‚ใ‚ˆใ„ใ€‚Iๅž‹ใ€IIๅž‹ใงๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“ใฎ้ ้š”ๆœŸใฎไบˆๅพŒใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ€ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200258" ; - terms:source ; - a owl:Class ; - rdfs:label "Complete transposition of the great arteries"@en, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "complete tga"@en ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ๅณๅฟƒๆˆฟใจๅณๅฎคใ€ๅทฆๅฟƒๆˆฟใจๅทฆๅฎคใŒๆญฃๅธธใซใคใชใŒใ‚Šใ€ๅณๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใŒใ€ๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„Iๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹IIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹่‚บๅ‹•่„ˆ็‹ญ็ช„ๅˆไฝตใฎIIIๅž‹ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฎใชใ„่‚บๅ‹•่„ˆๅผใชใ„ใ—ๅผไธ‹็‹ญ็ช„ๅˆไฝตใฎIVๅž‹ใซๅˆ†้กžใ™ใ‚‹ใ€‚ไฝ“่ก€ๆตใฏ้…ธ็ด ้ฃฝๅ’ŒๅบฆใŒไฝŽใๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใ„ๅž‹ใงใฏ็‰นใซใƒใ‚ขใƒŽใƒผใ‚ผใŒ็›ฎ็ซ‹ใคใ€‚ๅฟƒๆˆฟ้–“ไบค้€šใ‚„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒ็”Ÿๅญ˜ใซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ† ็Šถๅ‹•่„ˆใฎ่ตฐ่กŒใซใ‚‚ๅคšใใฎๅž‹ใŒใ‚ใ‚Šใ€ๆ‰‹่ก“ๆ™‚ใซใฏ้‡่ฆใชๆ‰€่ฆ‹ใจใชใ‚‹ใ€‚ๆฒป็™‚ไป‹ๅ…ฅใชใ—ใงใฏ1ใƒถๆœˆใง50๏ผ…ใŒใ€6ใƒถๆœˆใง85๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚่‡ช็„ถๆญดใงใฏIๅž‹ใŒๆœ€ใ‚‚ไบˆๅพŒไธ่‰ฏใง1ใƒถๆœˆใงไฝŽ้…ธ็ด ใฎใŸใ‚80๏ผ…ใŒๆญปไบกใ™ใ‚‹ใ€‚IIๅž‹ใงใฏ1ใƒถๆœˆใง10๏ผ…ๆญปไบกใ—ใ€IIIๅž‹ใฎ่‡ช็„ถๆญดใŒๆœ€ใ‚‚ใ‚ˆใ„ใ€‚Iๅž‹ใ€IIๅž‹ใงๅคง่ก€็ฎกใ‚นใ‚คใƒƒใƒ่ก“ใฎ้ ้š”ๆœŸใฎไบˆๅพŒใฏๆฏ”่ผƒ็š„ใ‚ˆใ„ใŒใ€่‚บๅ‹•่„ˆ็‹ญ็ช„ใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ€ๅ† ๅ‹•่„ˆ็‹ญ็ช„ใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200258" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Complete transposition of the great arteries"@en, "ใ‹ใ‚“ใœใ‚“ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Complete TGA"@en ; + skos:closeMatch obo:MONDO_0000153 ; skos:prefLabel "ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝ็—‡"@ja . -:2200259 - :hasNotificationNumber "52" ; - terms:description "ๅณๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใซใคใชใŒใ‚Šใใฎๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—๏ผŒๅทฆๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใซใคใชใŒ ใ‚Šใใฎๅณๅฎคใ‹ใ‚‰ ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ ใ€‚ๅฟƒๅ†…ใซไป–ใฎๅฅ‡ๅฝขใŒใชใ„ๅ ดๅˆ๏ผŒ้™่„ˆ่ก€ ใฏ่‚บๅ‹•่„ˆใธ๏ผŒ่‚บ้™่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ ใ€‚ใ—ใ‹ใ—๏ผŒๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹ ่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใ ๏ผŒใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡ ็Šถใ‚’ๅ‘ˆใ™ใ‚‹ ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น ็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚๏ผŒๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200259" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:description "ๅณๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅทฆๅฎคใซใคใชใŒใ‚Šใใฎๅทฆๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใŒ่ตทๅง‹ใ—๏ผŒๅทฆๆˆฟใŒ่งฃๅ‰–ๅญฆ็š„ๅณๅฎคใซใคใชใŒ ใ‚Šใใฎๅณๅฎคใ‹ใ‚‰ ๅคงๅ‹•่„ˆใŒ่ตทๅง‹ใ™ใ‚‹ ใ€‚ๅฟƒๅ†…ใซไป–ใฎๅฅ‡ๅฝขใŒใชใ„ๅ ดๅˆ๏ผŒ้™่„ˆ่ก€ ใฏ่‚บๅ‹•่„ˆใธ๏ผŒ่‚บ้™่„ˆ่ก€ใฏๅคงๅ‹•่„ˆใธๆตใ‚Œใ‚‹ ใ€‚ใ—ใ‹ใ—๏ผŒๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚„ๅฟƒๅฎคไธญ้š”ๆฌ ๆ๏ผ‹ ่‚บๅ‹•่„ˆ็‹ญ็ช„ใฎๅˆไฝตใŒๅคšใ ๏ผŒใใ‚Œใžใ‚Œใฎ่ก€่กŒๅ‹•ๆ…‹ใจ่‡จๅบŠ็—‡ ็Šถใ‚’ๅ‘ˆใ™ใ‚‹ ใ€‚ๅฟƒๆˆฟๅฟƒๅฎคใฎ็‰น ็•ฐใชใคใชใŒใ‚ŠใฎใŸใ‚๏ผŒๆˆฟๅฎคใƒ—ใƒญใƒƒใ‚ฏใ‚„้ ปๆ‹็™บไฝœใชใฉใฎไธๆ•ด่„ˆใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200259" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenitally corrected transposition of the great arteries"@en, "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; + rdfs:label "Congenitally corrected transposition of the great arteries"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ—ใ‚…ใ†ใ›ใ„ใ ใ„ใ‘ใฃใ‹ใ‚“ใฆใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016301 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016301 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไฟฎๆญฃๅคง่ก€็ฎก่ปขไฝ็—‡"@ja . -:2200260 - :hasNotificationNumber "3" ; - terms:description "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใฏใ€ไธ‰ๅฐ–ๅผใจๅณๅฎคๆตๅ…ฅ้ƒจใฎๅฅ‡ๅฝขใงใ€ไธ‰ๅฐ–ๅผใŒๅค‰ๅฝขใ—ใ€ใ‹ใคๅณๅฎคๅ†…ใซใšใ‚Œใฆ่ตทๅง‹ใ—ใ€ใใฎ้ƒจๅˆ†ใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅฝขๆˆไธๅ…จใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅณๅฎคๆฉŸ่ƒฝไธๅ…จใจไธ‰ๅฐ–ๅผๆฉŸ่ƒฝไธๅ…จใŒๅฟ…็™บใงใ€ไธ‰ๅฐ–ๅผ็‹ญ็ช„ใ‚„้–‰้Ž–ไธๅ…จใ‚’็จฎใ€…ใฎ็จ‹ๅบฆใซ่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200260" ; - terms:source ; - a owl:Class ; - rdfs:label "Ebsteinโ€™s anomaly"@en, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Ebstein็—…"@ja ; + + nando:hasNotificationNumber "3" ; + dcterms:description "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใฏใ€ไธ‰ๅฐ–ๅผใจๅณๅฎคๆตๅ…ฅ้ƒจใฎๅฅ‡ๅฝขใงใ€ไธ‰ๅฐ–ๅผใŒๅค‰ๅฝขใ—ใ€ใ‹ใคๅณๅฎคๅ†…ใซใšใ‚Œใฆ่ตทๅง‹ใ—ใ€ใใฎ้ƒจๅˆ†ใฎๅณๅฎคๅฟƒ็ญ‹ใฎๅฝขๆˆไธๅ…จใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ใ€ๅณๅฎคๆฉŸ่ƒฝไธๅ…จใจไธ‰ๅฐ–ๅผๆฉŸ่ƒฝไธๅ…จใŒๅฟ…็™บใงใ€ไธ‰ๅฐ–ๅผ็‹ญ็ช„ใ‚„้–‰้Ž–ไธๅ…จใ‚’็จฎใ€…ใฎ็จ‹ๅบฆใซ่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200260" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ebstein's anomaly"@en, "ใˆใทใ™ใŸใ„ใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Ebstein anomaly"@en, "Ebstein malformation"@en, "Ebstein's malformation"@en, "Ebsteinๅฅ‡ๅฝข"@ja, "Ebstein็—…"@ja ; + skos:closeMatch obo:MONDO_0009144 ; skos:prefLabel "ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…"@ja . -:2200261 - :hasNotificationNumber "54" ; - terms:description "็ทๅ‹•่„ˆๅนน้บๆฎ‹ใฏใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ใฎ่ก€ๆถฒใ‚’ๅ˜ไธ€ใฎๅคง่ก€็ฎกใŒๅ—ใ‘ใ€ใ“ใ‚Œใ‚ˆใ‚Šๅ† ๅ‹•่„ˆใ€่‚บใŠใ‚ˆใณ็ณป็ตฑๅพช็’ฐใซ็›ดๆŽฅ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ใพใ‚Œใชๅฟƒๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใพใŸใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จๆฒป็™‚ใ€ๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใจใ—ใฆใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซRastelliๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่ก“ๅพŒ้ ้š”ๆœŸใซๅฐŽ็ฎก็‹ญ็ช„ใŒ็™บ็”Ÿใ—ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200261" ; - terms:source ; + + nando:hasNotificationNumber "54" ; + dcterms:description "็ทๅ‹•่„ˆๅนน้บๆฎ‹ใฏใ€ๅทฆๅณไธกๅฟƒๅฎคใ‹ใ‚‰ใฎ่ก€ๆถฒใ‚’ๅ˜ไธ€ใฎๅคง่ก€็ฎกใŒๅ—ใ‘ใ€ใ“ใ‚Œใ‚ˆใ‚Šๅ† ๅ‹•่„ˆใ€่‚บใŠใ‚ˆใณ็ณป็ตฑๅพช็’ฐใซ็›ดๆŽฅ่ก€ๆถฒใ‚’ไพ›็ตฆใ™ใ‚‹ใพใ‚Œใชๅฟƒๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใพใŸใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซๅฟƒไธๅ…จๆฒป็™‚ใ€ๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใจใ—ใฆใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใŠใ‚ˆใณไนณๅ…ๆœŸๆ—ฉๆœŸใซRastelliๆ‰‹่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่ก“ๅพŒ้ ้š”ๆœŸใซๅฐŽ็ฎก็‹ญ็ช„ใŒ็™บ็”Ÿใ—ๅ†ๆ‰‹่ก“ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200261" ; + dcterms:source ; a owl:Class ; - rdfs:label "Truncus arteriosus communis"@en, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016581 ; + rdfs:label "Truncus arteriosus communis"@en, "ใใ†ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ„ใ–ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018072 ; skos:prefLabel "็ทๅ‹•่„ˆๅนน้บๆฎ‹็—‡"@ja . -:2200262 - :hasNotificationNumber "63" ; - terms:description "ไธŠ่กŒๅคงๅ‹•่„ˆใฎๅทฆๅดใจ่‚บๅ‹•่„ˆใฎๅณๅดใจใฎ้–“ใซ็ดข็Šถใ‚ใ‚‹ใ„ใฏ็ช“็Šถใฎไบค้€šใŒใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎไบค้€šๅญ”ใ‚’ไป‹ใ—ใฆใ€ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธ็Ÿญ็ตกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€1830ๅนดใซๅˆใ‚ใฆElliotsonใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€1952ๅนดใซใฏGrossใŒๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ—ใŸใ€‚ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎๅŠๆœˆๅผใŒ่งฃๅ‰–ๅญฆ็š„ใซใ‚‚ๆฉŸ่ƒฝ็š„ใซใ‚‚ๅฎŒๅ…จใซๅˆ†้›ขใ—ใฆใ„ใ‚‹ใ€‚Conus septumใŒๅญ˜ๅœจใ—ใ€็ทๅ‹•่„ˆ็ฎกๆฎ‹้บ็—‡ใจใฏ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ไบค้€šๅญ”ใฎไฝ็ฝฎใ‹ใ‚‰typeI๏ผš่ฟ‘ไฝๆฌ ๆๅž‹ใ€typeII๏ผš้ ไฝๆฌ ๆๅž‹ใ€typeIII๏ผšๅ…จๆฌ ๆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ด„ๅŠๆ•ฐใฎไพ‹ใŒใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ็—‡ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใ€Fallotๅ››ๅพด็—‡ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅฟƒไธๅ…จใซๅฏพใ—ใฆๅˆฉๅฐฟ่–ฌใจ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’ไธญๅฟƒใซใ—ใŸๅ†…็ง‘ๆฒป็™‚ใ‚’่กŒใ„ใ€ๆ‰‹่ก“ใพใงใฎ้–“ๅ…จ่บซ็Šถๆ…‹ใฎๆ”นๅ–„ใซๅŠชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใปใจใ‚“ใฉใฎไพ‹ใฏๅฟƒไธๅ…จใŒๅผทใใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใฎๆ‰‹่ก“ๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200262" ; - terms:source ; + + nando:hasNotificationNumber "63" ; + dcterms:description "ไธŠ่กŒๅคงๅ‹•่„ˆใฎๅทฆๅดใจ่‚บๅ‹•่„ˆใฎๅณๅดใจใฎ้–“ใซ็ดข็Šถใ‚ใ‚‹ใ„ใฏ็ช“็Šถใฎไบค้€šใŒใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎไบค้€šๅญ”ใ‚’ไป‹ใ—ใฆใ€ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธ็Ÿญ็ตกใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€1830ๅนดใซๅˆใ‚ใฆElliotsonใซใ‚ˆใ‚Š่จ˜่ผ‰ใ•ใ‚Œใ€1952ๅนดใซใฏGrossใŒๆ‰‹่ก“ใ‚’ๆ–ฝ่กŒใ—ใŸใ€‚ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“ใฏใ€ๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆใฎๅŠๆœˆๅผใŒ่งฃๅ‰–ๅญฆ็š„ใซใ‚‚ๆฉŸ่ƒฝ็š„ใซใ‚‚ๅฎŒๅ…จใซๅˆ†้›ขใ—ใฆใ„ใ‚‹ใ€‚Conus septumใŒๅญ˜ๅœจใ—ใ€็ทๅ‹•่„ˆ็ฎกๆฎ‹้บ็—‡ใจใฏ็•ฐใชใฃใฆใ„ใ‚‹ใ€‚ไบค้€šๅญ”ใฎไฝ็ฝฎใ‹ใ‚‰typeI๏ผš่ฟ‘ไฝๆฌ ๆๅž‹ใ€typeII๏ผš้ ไฝๆฌ ๆๅž‹ใ€typeIII๏ผšๅ…จๆฌ ๆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็ด„ๅŠๆ•ฐใฎไพ‹ใŒใ€ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡ใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ็—‡ใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใ€Fallotๅ››ๅพด็—‡ใ€ๅ† ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใชใฉใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅฟƒไธๅ…จใซๅฏพใ—ใฆๅˆฉๅฐฟ่–ฌใจ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’ไธญๅฟƒใซใ—ใŸๅ†…็ง‘ๆฒป็™‚ใ‚’่กŒใ„ใ€ๆ‰‹่ก“ใพใงใฎ้–“ๅ…จ่บซ็Šถๆ…‹ใฎๆ”นๅ–„ใซๅŠชใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใปใจใ‚“ใฉใฎไพ‹ใฏๅฟƒไธๅ…จใŒๅผทใใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใฎๆ‰‹่ก“ๆฒป็™‚ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200262" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aorto-pulmonary window"@en, "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“"@ja ; + rdfs:label "Aorto-pulmonary window"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใฏใ„ใฉใ†ใฟใ‚ƒใใใ†"@ja-Hira, "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0021902 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0021902 ; skos:prefLabel "ๅคงๅ‹•่„ˆ่‚บๅ‹•่„ˆ็ช“"@ja . -:2200263 - :hasNotificationNumber "23" ; - terms:description "ไธ‰ๅฟƒๆˆฟๅฟƒใฏใ€้€šๅธธใฏๅทฆๆˆฟๆ€งไธ‰ๅฟƒๆˆฟๅฟƒcor triatriatumใ‚’ๆŒ‡ใ—ใ€ๅทฆๆˆฟใŒใ€็•ฐๅธธ้š”ๅฃใซใ‚ˆใฃใฆ่‚บ้™่„ˆใฎ้‚„ๆตใ™ใ‚‹ๅ‰ฏๅฎคaccessory chamberใจๅทฆๅฟƒ่€ณใจๅƒงๆˆฟๅผๅฃใ‚’ๅซใ‚€ๅ›บๆœ‰ใฎๅทฆๆˆฟใจใซๅˆ†ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏๅฎคใจๅ›บๆœ‰ๅทฆๆˆฟใจใฏ็‹ญใ„้–‹ๅฃ้ƒจใ‚’้€šใ˜ใฆ้€ฃ็ตกใ—ใฆใ„ใ‚‹ใ‹ใ€ๅ‰ฏๅฎคใŒๅณๆˆฟใจ็›ดๆŽฅ้€ฃ็ตกใ—ใŸใ‚Šใ€ๅˆฅใฎ็•ฐๅธธใช็ตŒ่ทฏใ‚’้€šใ˜ใฆๅทฆๆˆฟใจ้€ฃ็ตกใ™ใ‚‹ใ€‚็—…ๅž‹ๅˆ†้กžใฏLucas-Schmidtใฎใ‚‚ใฎใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Šใ€IAๅž‹๏ผˆclassic type๏ผ‰ใŒๆœ€ใ‚‚ๅคšใใ€ใคใ„ใงIB1ๅž‹ใŒๅคšใ„ใ€‚ๅค–็ง‘ๆฒป็™‚ใฏ่จบๆ–ญใŒใคใ„ใฆๅ‘ผๅธ็Šถๆ…‹ใŒๅฎ‰ๅฎšใ—ๆฌก็ฌฌ่กŒใ†ในใใงใ€้š”ๅฃใฎๅˆ‡้™คใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200263" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "ไธ‰ๅฟƒๆˆฟๅฟƒใฏใ€้€šๅธธใฏๅทฆๆˆฟๆ€งไธ‰ๅฟƒๆˆฟๅฟƒcor triatriatumใ‚’ๆŒ‡ใ—ใ€ๅทฆๆˆฟใŒใ€็•ฐๅธธ้š”ๅฃใซใ‚ˆใฃใฆ่‚บ้™่„ˆใฎ้‚„ๆตใ™ใ‚‹ๅ‰ฏๅฎคaccessory chamberใจๅทฆๅฟƒ่€ณใจๅƒงๆˆฟๅผๅฃใ‚’ๅซใ‚€ๅ›บๆœ‰ใฎๅทฆๆˆฟใจใซๅˆ†ใ‘ใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏๅฎคใจๅ›บๆœ‰ๅทฆๆˆฟใจใฏ็‹ญใ„้–‹ๅฃ้ƒจใ‚’้€šใ˜ใฆ้€ฃ็ตกใ—ใฆใ„ใ‚‹ใ‹ใ€ๅ‰ฏๅฎคใŒๅณๆˆฟใจ็›ดๆŽฅ้€ฃ็ตกใ—ใŸใ‚Šใ€ๅˆฅใฎ็•ฐๅธธใช็ตŒ่ทฏใ‚’้€šใ˜ใฆๅทฆๆˆฟใจ้€ฃ็ตกใ™ใ‚‹ใ€‚็—…ๅž‹ๅˆ†้กžใฏLucas-Schmidtใฎใ‚‚ใฎใŒไธ€่ˆฌ็š„ใงใ‚ใ‚Šใ€IAๅž‹๏ผˆclassic type๏ผ‰ใŒๆœ€ใ‚‚ๅคšใใ€ใคใ„ใงIB1ๅž‹ใŒๅคšใ„ใ€‚ๅค–็ง‘ๆฒป็™‚ใฏ่จบๆ–ญใŒใคใ„ใฆๅ‘ผๅธ็Šถๆ…‹ใŒๅฎ‰ๅฎšใ—ๆฌก็ฌฌ่กŒใ†ในใใงใ€้š”ๅฃใฎๅˆ‡้™คใŒไธปไฝ“ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200263" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cor triatriatum"@en, "ไธ‰ๅฟƒๆˆฟๅฟƒ"@ja ; + rdfs:label "Cor triatriatum"@en, "ใ•ใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚“"@ja-Hira, "ไธ‰ๅฟƒๆˆฟๅฟƒ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015450 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015450 ; skos:prefLabel "ไธ‰ๅฟƒๆˆฟๅฟƒ"@ja . -:2200264 - :hasNotificationNumber "73" ; - terms:description "่ƒŽๅ…ๆœŸใซ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ๅ‹•่„ˆ็ฎก๏ผˆๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆ้–“ใซๅญ˜ๅœจใ™ใ‚‹่ก€็ฎก๏ผ‰ใŒใ€ๅ‡บ็”ŸๅพŒใ‚‚่‡ช็„ถ้–‰้Ž–ใ›ใš้–‹ๅญ˜็Šถๆ…‹ใ‚’็ถญๆŒใ—ใŸ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ็Ÿญ็ตกใŒ็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตก้‡ใฏ็ฎกใฎๅคงใใ•ใซใ‚ˆใ‚Šใ€ๅคงใใ„ใจๅทฆๅฟƒ็ณปใฎๅฎน้‡่ฒ ่ทใซใชใ‚‹ใ€‚็ดฐใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒๅฟƒไธๅ…จใ‚’่ตทใ“ใ™ใ“ใจใฏใชใ„ใŒใ€็ดฐ่Œๆ€งๅฟƒๅ†…่†œ็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บใฏใ‚ใ‚‹ใ€‚ๅคชใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸใซๅฟƒไธๅ…จใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใพใŸ่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏ็‚Žใชใฉใ‚‚ๅคšใ„ใ€‚4-5ๆญณไปฅๅพŒใซใฏๆฌก็ฌฌใซEisenmengerๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฎ็ตŒ้Žใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้–‰้Ž–ๆ “(Amplatzer Duct Occluder)ใ‚’็”จใ„ใŸใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปๆตใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200264" ; - terms:source ; + + nando:hasNotificationNumber "73" ; + dcterms:description "่ƒŽๅ…ๆœŸใซ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ๅ‹•่„ˆ็ฎก๏ผˆๅคงๅ‹•่„ˆใจ่‚บๅ‹•่„ˆ้–“ใซๅญ˜ๅœจใ™ใ‚‹่ก€็ฎก๏ผ‰ใŒใ€ๅ‡บ็”ŸๅพŒใ‚‚่‡ช็„ถ้–‰้Ž–ใ›ใš้–‹ๅญ˜็Šถๆ…‹ใ‚’็ถญๆŒใ—ใŸ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ็Ÿญ็ตกใŒ็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตก้‡ใฏ็ฎกใฎๅคงใใ•ใซใ‚ˆใ‚Šใ€ๅคงใใ„ใจๅทฆๅฟƒ็ณปใฎๅฎน้‡่ฒ ่ทใซใชใ‚‹ใ€‚็ดฐใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใŒๅฟƒไธๅ…จใ‚’่ตทใ“ใ™ใ“ใจใฏใชใ„ใŒใ€็ดฐ่Œๆ€งๅฟƒๅ†…่†œ็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บใฏใ‚ใ‚‹ใ€‚ๅคชใ„ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใ€ไนณๅ…ๆœŸใซๅฟƒไธๅ…จใ‚’็”Ÿใ˜ใ‚‹ใ€‚ใพใŸ่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏ็‚Žใชใฉใ‚‚ๅคšใ„ใ€‚4-5ๆญณไปฅๅพŒใซใฏๆฌก็ฌฌใซEisenmengerๅŒ–ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฎ็ตŒ้Žใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚้–‰้Ž–ๆ “(Amplatzer Duct Occluder)ใ‚’็”จใ„ใŸใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปๆตใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200264" ; + dcterms:source ; a owl:Class ; - rdfs:label "Patent ductus arteriosus"@en, "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡"@ja ; + rdfs:label "Patent ductus arteriosus"@en, "ใฉใ†ใฟใ‚ƒใใ‹ใ‚“ใ‹ใ„ใžใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011827 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011827 ; skos:prefLabel "ๅ‹•่„ˆ็ฎก้–‹ๅญ˜็—‡"@ja . -:2200265 - :hasNotificationNumber "49" ; - terms:description "ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใ€ๅณๅฟƒๆˆฟใจๅทฆๅฟƒๆˆฟใฎ้–“ใซ้š”ๅฃใŒๅญ˜ๅœจใ—ใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็™บ็”Ÿๆฎต้šŽใงๅฟƒๆˆฟไธญ้š”ใฎๅฝขๆˆใŒใงใใชใ‹ใฃใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฎ่‘—ใ—ใ„ๅข—ๅŠ ใ‹ใ‚‰ใ€ๅฟƒไธๅ…จ็—‡็ŠถใŒๅนผๅ…ๆœŸใซใ€ใ‚ˆใ‚Š้‡็—‡ใซๅ‡บ็พใ—ใฆใใ‚‹ใ€‚็—‡็ŠถใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ไพ‹ใฏใ€ๆ—ฉๆœŸใซใƒ‘ใƒƒใƒ็ธซ็€ใซใ‚ˆใ‚‹ๅฟƒๆˆฟไธญ้š”ๅฝขๆˆ่ก“ใ‚’่กŒใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200265" ; - terms:source ; + + nando:hasNotificationNumber "49" ; + dcterms:description "ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใ€ๅณๅฟƒๆˆฟใจๅทฆๅฟƒๆˆฟใฎ้–“ใซ้š”ๅฃใŒๅญ˜ๅœจใ—ใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็™บ็”Ÿๆฎต้šŽใงๅฟƒๆˆฟไธญ้š”ใฎๅฝขๆˆใŒใงใใชใ‹ใฃใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚่‚บ่ก€ๆตใฎ่‘—ใ—ใ„ๅข—ๅŠ ใ‹ใ‚‰ใ€ๅฟƒไธๅ…จ็—‡็ŠถใŒๅนผๅ…ๆœŸใซใ€ใ‚ˆใ‚Š้‡็—‡ใซๅ‡บ็พใ—ใฆใใ‚‹ใ€‚็—‡็ŠถใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ™ใ‚‹ไพ‹ใฏใ€ๆ—ฉๆœŸใซใƒ‘ใƒƒใƒ็ธซ็€ใซใ‚ˆใ‚‹ๅฟƒๆˆฟไธญ้š”ๅฝขๆˆ่ก“ใ‚’่กŒใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200265" ; + dcterms:source ; a owl:Class ; - rdfs:label "Common atrium"@en, "ๅ˜ๅฟƒๆˆฟ็—‡"@ja ; + rdfs:label "Common atrium"@en, "ใŸใ‚“ใ—ใ‚“ใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ˜ๅฟƒๆˆฟ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅ˜ๅฟƒๆˆฟ็—‡"@ja . -:2200266 - :hasNotificationNumber "50" ; - terms:description "ๅฟƒๆˆฟไธญ้š”ใฎๆฌ ๆใ‚’่ชใ‚ใ‚‹ใ€‚ๆฌ ๆใฏๅฟƒๆˆฟไธญ้š”ๅตๅ††็ชฉใ‚’ๅฐ‘ใชใใจใ‚‚ไธ€้ƒจๅซใ‚“ใงใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐๅ…ๆœŸใฏ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅฟƒ้›‘้Ÿณใ‚„ๅฟƒ้›ปๅ›ณ็•ฐๅธธใชใฉใงๅฅ่จบๆ™‚ใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ—ใ‹ใ—ๅŠ ้ฝขใจใจใ‚‚ใซๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ‚„่‚บ้ซ˜่ก€ๅœงใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บไฝ“่ก€ๆตๆฏ”ใŒ1.5ไปฅไธŠใ‹ใ€ๅฟƒใ‚จใ‚ณใƒผใงๅณๅฎคใฎๅฎน้‡่ฒ ่ทใ‚’่ชใ‚ใ‚‹ใจใใ€ๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฏใ€ใŠใŠใ‚€ใญไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใŒๅผทใ„ใจใ€ไบˆๅพŒใŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅ‰ใซๅฟƒๆˆฟ็ดฐๅ‹•ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๆดžๆฉŸ่ƒฝไธๅ…จใ‚„ๅฟƒๆˆฟๆ€งไธๆ•ด่„ˆใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200266" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "ๅฟƒๆˆฟไธญ้š”ใฎๆฌ ๆใ‚’่ชใ‚ใ‚‹ใ€‚ๆฌ ๆใฏๅฟƒๆˆฟไธญ้š”ๅตๅ††็ชฉใ‚’ๅฐ‘ใชใใจใ‚‚ไธ€้ƒจๅซใ‚“ใงใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐๅ…ๆœŸใฏ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅฟƒ้›‘้Ÿณใ‚„ๅฟƒ้›ปๅ›ณ็•ฐๅธธใชใฉใงๅฅ่จบๆ™‚ใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใ—ใ‹ใ—ๅŠ ้ฝขใจใจใ‚‚ใซๅฟƒไธๅ…จ็—‡็Šถใ€ไธๆ•ด่„ˆใ‚„่‚บ้ซ˜่ก€ๅœงใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บไฝ“่ก€ๆตๆฏ”ใŒ1.5ไปฅไธŠใ‹ใ€ๅฟƒใ‚จใ‚ณใƒผใงๅณๅฎคใฎๅฎน้‡่ฒ ่ทใ‚’่ชใ‚ใ‚‹ใจใใ€ๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ๆฒป็™‚ๅพŒใฏใ€ใŠใŠใ‚€ใญไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใŒๅผทใ„ใจใ€ไบˆๅพŒใŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅ‰ใซๅฟƒๆˆฟ็ดฐๅ‹•ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ‰‹่ก“ๅพŒ้ ้š”ๆœŸใซๆดžๆฉŸ่ƒฝไธๅ…จใ‚„ๅฟƒๆˆฟๆ€งไธๆ•ด่„ˆใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200266" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atrial septal defect, ostium secundum type"@en, "ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:label "Atrial septal defect, ostium secundum type"@en, "ใซใ˜ใ“ใ†ใŒใŸใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020434 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020434, obo:MONDO_0020439 ; skos:prefLabel "ไบŒๆฌกๅญ”ๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja . -:2200267 - :hasNotificationNumber "48" ; - terms:description "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฏๅทฆๅณๅฟƒๆˆฟใ‚’้š”ใฆใฆใ„ใ‚‹ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ‚’่จ€ใ†ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฎใ†ใกใ€ๅตๅ††็ชฉใ‚’ๅซใพใชใ„ๆฌ ๆใงใ€ไธŠๅคง้™่„ˆใ‹ไธ‹ๅคง้™่„ˆใซ่ฟ‘ใ„้ƒจไฝใฎๆฌ ๆใ€‚้™่„ˆๆดžๅž‹ใฏไธŠๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธŠไฝๆฌ ๆๅž‹ใ€ไธ‹ๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธ‹ๅคง้™่„ˆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ’๏ผš๏ผ‘ใงๅฅณๆ€งใซๅคšใใ€ๅฐๅ…ๆœŸใ‚„่‹ฅๅนดๆˆไบบใงใฏๆฏ”่ผƒ็š„ไบˆๅพŒใฎ่‰ฏใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใ€็‰นใซๅณ่‚บ้™่„ˆใŒๅณๅฟƒๆˆฟใซ้‚„ๆตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎๅ ดๅˆใซใฏๆ‰‹่ก“ใŒ้›ฃใ—ใใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200267" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:description "ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฏๅทฆๅณๅฟƒๆˆฟใ‚’้š”ใฆใฆใ„ใ‚‹ๅฟƒๆˆฟไธญ้š”ใŒๆฌ ๆใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ‚’่จ€ใ†ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใฎใ†ใกใ€ๅตๅ††็ชฉใ‚’ๅซใพใชใ„ๆฌ ๆใงใ€ไธŠๅคง้™่„ˆใ‹ไธ‹ๅคง้™่„ˆใซ่ฟ‘ใ„้ƒจไฝใฎๆฌ ๆใ€‚้™่„ˆๆดžๅž‹ใฏไธŠๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธŠไฝๆฌ ๆๅž‹ใ€ไธ‹ๅคง้™่„ˆไป˜่ฟ‘ใŒๆฌ ๆใ—ใฆใ„ใ‚‹ไธ‹ๅคง้™่„ˆๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็”ทๅฅณๆฏ”ใฏ๏ผ’๏ผš๏ผ‘ใงๅฅณๆ€งใซๅคšใใ€ๅฐๅ…ๆœŸใ‚„่‹ฅๅนดๆˆไบบใงใฏๆฏ”่ผƒ็š„ไบˆๅพŒใฎ่‰ฏใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใ€็‰นใซๅณ่‚บ้™่„ˆใŒๅณๅฟƒๆˆฟใซ้‚„ๆตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎๅ ดๅˆใซใฏๆ‰‹่ก“ใŒ้›ฃใ—ใใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200267" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atrial septal defect, sinus venosus type"@en, "้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:label "Atrial septal defect, sinus venosus type"@en, "ใ˜ใ‚‡ใ†ใฟใ‚ƒใใฉใ†ใŒใŸใ—ใ‚“ใผใ†ใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020436 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020436 ; skos:prefLabel "้™่„ˆๆดžๅž‹ๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡"@ja . -:2200268 - :hasNotificationNumber "51" ; - terms:description "ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใฏๅฎŒๅ…จๅž‹ใจไธๅฎŒๅ…จๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใงใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใใ€ไธ‰ๅฐ–ๅผใจๅƒงๅธฝๅผใฏใŠใฎใŠใฎ็‹ฌ็ซ‹ใ—ใฆๅฝขๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ใฎ๏ผ‘ๆฌกไธญ้š”ใฎๆฌ ๆใŒใ‚ใ‚‹ใ€‚ๅƒงๅธฝๅผใซ่ฃ‚้š™cleftใ‚’่ชใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅŸบๆœฌ็š„ใซใฏๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใจๅŒๆง˜ใง,ใ€€ๅฟƒๆˆฟใงใฎๅทฆๅณ็Ÿญ็ตกใซใ‚ˆใ‚‹ๅณๅฎคๅฎน้‡่ฒ ่ทใจ่‚บ่ก€ๆตๅข—ๅŠ ใ‚’็คบใ™ใ€‚ๅŠ ้ฝขใซใ‚ˆใ‚Šๅฟƒๆˆฟ้–“ใฎๅทฆๅณ็Ÿญ็ตกใซๅŠ ใˆใ€ๆˆฟๅฎคๅผ้€†ๆตใ€็‰นใซๅƒงๅธฝๅผ้€†ๆตใฎๅข—ๆ‚ชใซใ‚ˆใ‚Šๅฟƒไธๅ…จ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ใฏๅฟƒไธๅ…จใฎ้€ฒ่กŒใŒใชใ‘ใ‚Œใฐ,ๅฐๅ…ๆœŸใพใงใซใƒ‘ใƒƒใƒใซใ‚ˆใ‚‹ไธ€ๆฌกๅฃ้–‰้Ž–ใจcleftใฎไฟฎๅพฉใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200268" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใฏๅฎŒๅ…จๅž‹ใจไธๅฎŒๅ…จๅž‹ใซๅˆ†ใ‹ใ‚Œใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡ใงใฏๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒใชใใ€ไธ‰ๅฐ–ๅผใจๅƒงๅธฝๅผใฏใŠใฎใŠใฎ็‹ฌ็ซ‹ใ—ใฆๅฝขๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ใฎ๏ผ‘ๆฌกไธญ้š”ใฎๆฌ ๆใŒใ‚ใ‚‹ใ€‚ๅƒงๅธฝๅผใซ่ฃ‚้š™cleftใ‚’่ชใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹ใฏๅŸบๆœฌ็š„ใซใฏๅฟƒๆˆฟไธญ้š”ๆฌ ๆ็—‡ใจๅŒๆง˜ใง,ใ€€ๅฟƒๆˆฟใงใฎๅทฆๅณ็Ÿญ็ตกใซใ‚ˆใ‚‹ๅณๅฎคๅฎน้‡่ฒ ่ทใจ่‚บ่ก€ๆตๅข—ๅŠ ใ‚’็คบใ™ใ€‚ๅŠ ้ฝขใซใ‚ˆใ‚Šๅฟƒๆˆฟ้–“ใฎๅทฆๅณ็Ÿญ็ตกใซๅŠ ใˆใ€ๆˆฟๅฎคๅผ้€†ๆตใ€็‰นใซๅƒงๅธฝๅผ้€†ๆตใฎๅข—ๆ‚ชใซใ‚ˆใ‚Šๅฟƒไธๅ…จ็—‡็Šถใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ไธๅฎŒๅ…จๅž‹ใฏๅฟƒไธๅ…จใฎ้€ฒ่กŒใŒใชใ‘ใ‚Œใฐ,ๅฐๅ…ๆœŸใพใงใซใƒ‘ใƒƒใƒใซใ‚ˆใ‚‹ไธ€ๆฌกๅฃ้–‰้Ž–ใจcleftใฎไฟฎๅพฉใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200268" ; + dcterms:source ; a owl:Class ; - rdfs:label "Incomplete atrioventricular septal defect"@en, "ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:label "Incomplete atrioventricular septal defect"@en, "ใตใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "ไธๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0015275 ; skos:prefLabel "ไธๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja . -:2200269 - :hasNotificationNumber "7" ; - terms:description "่ƒŽ็”ŸๆœŸใฎๅฟƒๅ†…่†œๅบŠๅฝขๆˆ็™’ๅˆไธๅ…จใซใ‚ˆใ‚Šๅฟƒๆˆฟไธญ้š”ไธ€ๆฌกๅญ”ๆฌ ๆใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ„ใ€ๅ…ฑ้€šๆˆฟๅฎคๅผๅฃใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅ…ฑ้€šๅ‰ๅฐ–ใฎๅฝขๆ…‹ใซใ‚ˆใ‚Šใ€A, B, Cใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œ(Rastelliๅˆ†้กž)ใ€Aๅž‹ใงใฏๅ…ฑ้€šๅ‰ๅฐ–ใŒๅณๅฎคๅดใซๅ…ฅใ‚‰ใšใ€่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใ‚„ๅ††้Œ้ƒจไนณ้ ญ็ญ‹ใซ็ตๅˆใ€Bๅž‹ใฏ่…ฑ็ดขใŒๅณๅฎคๅฟƒๅฐ–้ƒจใฎไนณ้ ญ็ญ‹ใจ็ตๅˆใ€Cๅž‹ใฏๅ…ฑ้€šๅ‰ๅฐ–ใฎ่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใจ็ตๅˆใ›ใšใ€ๅณๅฎคไนณ้ ญ็ญ‹ใซ็ตๅˆใ™ใ‚‹(free-floating)ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏๅฟƒๆˆฟไฝใจๅฟƒๅฎคไฝใซใŠใ‘ใ‚‹ๅทฆๅณ็Ÿญ็ตกใจๆˆฟๅฎคๅผใฎๅฝขๆ…‹็•ฐๅธธใซๅŸบใฅใ็จฎใ€…ใฎ็จ‹ๅบฆใฎๆˆฟๅฎคๅผ้–‰้Ž–ไธๅ…จใงใ‚ใ‚Šใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅคงใใชๅ ดๅˆใซใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšๆฑ—ใ€ๅคšๅ‘ผๅธใ€ๅ“บไนณไธ่‰ฏใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏ็ญ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใซtwo-patchๆณ•ใพใŸใฏone-patchๆณ•ใซใ‚ˆใ‚‹ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200269" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "่ƒŽ็”ŸๆœŸใฎๅฟƒๅ†…่†œๅบŠๅฝขๆˆ็™’ๅˆไธๅ…จใซใ‚ˆใ‚Šๅฟƒๆˆฟไธญ้š”ไธ€ๆฌกๅญ”ๆฌ ๆใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ„ใ€ๅ…ฑ้€šๆˆฟๅฎคๅผๅฃใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅ…ฑ้€šๅ‰ๅฐ–ใฎๅฝขๆ…‹ใซใ‚ˆใ‚Šใ€A, B, Cใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œ(Rastelliๅˆ†้กž)ใ€Aๅž‹ใงใฏๅ…ฑ้€šๅ‰ๅฐ–ใŒๅณๅฎคๅดใซๅ…ฅใ‚‰ใšใ€่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใ‚„ๅ††้Œ้ƒจไนณ้ ญ็ญ‹ใซ็ตๅˆใ€Bๅž‹ใฏ่…ฑ็ดขใŒๅณๅฎคๅฟƒๅฐ–้ƒจใฎไนณ้ ญ็ญ‹ใจ็ตๅˆใ€Cๅž‹ใฏๅ…ฑ้€šๅ‰ๅฐ–ใฎ่…ฑ็ดขใฏๅฟƒๅฎคไธญ้š”ใจ็ตๅˆใ›ใšใ€ๅณๅฎคไนณ้ ญ็ญ‹ใซ็ตๅˆใ™ใ‚‹(free-floating)ใ€‚ๅŸบๆœฌ็—…ๆ…‹ใฏๅฟƒๆˆฟไฝใจๅฟƒๅฎคไฝใซใŠใ‘ใ‚‹ๅทฆๅณ็Ÿญ็ตกใจๆˆฟๅฎคๅผใฎๅฝขๆ…‹็•ฐๅธธใซๅŸบใฅใ็จฎใ€…ใฎ็จ‹ๅบฆใฎๆˆฟๅฎคๅผ้–‰้Ž–ไธๅ…จใงใ‚ใ‚Šใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒๅคงใใชๅ ดๅˆใซใฏ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ๅคšๆฑ—ใ€ๅคšๅ‘ผๅธใ€ๅ“บไนณไธ่‰ฏใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏ็ญ‰ใ‚’่ชใ‚ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใซtwo-patchๆณ•ใพใŸใฏone-patchๆณ•ใซใ‚ˆใ‚‹ๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200269" ; + dcterms:source ; a owl:Class ; - rdfs:label "Complete atrioventricular septal defect"@en, "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:label "Complete atrioventricular septal defect"@en, "ใ‹ใ‚“ใœใ‚“ใŒใŸใผใ†ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "ๅฎŒๅ…จๅž‹ๅฟƒๅ†…่†œๅบŠๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0015273 ; + skos:closeMatch obo:MONDO_0015273 ; skos:prefLabel "ๅฎŒๅ…จๅž‹ๆˆฟๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja . -:2200270 - :hasNotificationNumber "31" ; - terms:description "ๅทฆๅณใฎๅฟƒๅฎคใฎ้–“ใฎๅฃใงใ‚ใ‚‹ๅฟƒๅฎคไธญ้š”ใซๅญ”ใฎใ‚ใ„ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฏ่†œๆง˜้ƒจไธญ้š”ใจ็ญ‹ๆ€ง้ƒจไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€็ญ‹ๆ€ง้ƒจไธญ้š”ใฏๆ›ดใซๆตๅ…ฅ่ทฏไธญ้š”ใ€่‚‰ๆŸฑ้ƒจไธญ้š”ใ€ใŠใ‚ˆใณๆตๅ‡บ่ทฏ๏ผˆๆผๆ–—้ƒจ๏ผ‰ไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้ƒจไฝใซๆฌ ๆๅญ”ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆฌ ๆๅญ”ใฎๅคงใใ•ใ€ไฝ็ฝฎใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆ–น้‡ใŒ็•ฐใชใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใฎๅˆไฝตใŒใชใใ€ๅทฆๅณ็Ÿญ็ตกใŒๅฐ‘ใชใ„ไพ‹ใงใฏๅŽŸๅ‰‡ใจใ—ใฆๅค–็ง‘ๆฒป็™‚ใฎ้ฉๅฟœใฏใชใใ€ๆ„ŸๆŸ“ๆ€งๅฟƒๅ†…่†œ็‚Žใซๆณจๆ„ใ—ใชใŒใ‚‰็ตŒ้Ž่ฆณๅฏŸใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅตŒๅ…ฅ้€ธ่„ฑใ‚’ใจใ‚‚ใชใ†ไพ‹ใงใฏๅฐ็Ÿญ็ตกใงใ‚ใฃใฆใ‚‚ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅคšๅ‘ผๅธใ€ๅ“บไนณ้šœๅฎณใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๆฐ—้“ๆ„ŸๆŸ“ใฎๅๅพฉใชใฉใฎ็—‡็ŠถใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๅ†…็ง‘ๆฒป็™‚ใจๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใŸไพ‹ใงใฏ็—‡็ŠถใŒ่ปฝๅพฎใงใ‚ใฃใฆใ‚‚6ใ‚ซๆœˆไปฅๅ†…ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใŒใชใใจใ‚‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅทฆๅฎคๅฎน้‡่ฒ ่ทๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏๅฐฑๅญฆๅ‰ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200270" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "ๅทฆๅณใฎๅฟƒๅฎคใฎ้–“ใฎๅฃใงใ‚ใ‚‹ๅฟƒๅฎคไธญ้š”ใซๅญ”ใฎใ‚ใ„ใฆใ„ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅฟƒๅฎคไธญ้š”ใฏ่†œๆง˜้ƒจไธญ้š”ใจ็ญ‹ๆ€ง้ƒจไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€็ญ‹ๆ€ง้ƒจไธญ้š”ใฏๆ›ดใซๆตๅ…ฅ่ทฏไธญ้š”ใ€่‚‰ๆŸฑ้ƒจไธญ้š”ใ€ใŠใ‚ˆใณๆตๅ‡บ่ทฏ๏ผˆๆผๆ–—้ƒจ๏ผ‰ไธญ้š”ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้ƒจไฝใซๆฌ ๆๅญ”ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๆฌ ๆๅญ”ใฎๅคงใใ•ใ€ไฝ็ฝฎใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็Šถใ€ๆฒป็™‚ๆ–น้‡ใŒ็•ฐใชใ‚‹ใ€‚่‚บ้ซ˜่ก€ๅœงใฎๅˆไฝตใŒใชใใ€ๅทฆๅณ็Ÿญ็ตกใŒๅฐ‘ใชใ„ไพ‹ใงใฏๅŽŸๅ‰‡ใจใ—ใฆๅค–็ง‘ๆฒป็™‚ใฎ้ฉๅฟœใฏใชใใ€ๆ„ŸๆŸ“ๆ€งๅฟƒๅ†…่†œ็‚Žใซๆณจๆ„ใ—ใชใŒใ‚‰็ตŒ้Ž่ฆณๅฏŸใ™ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅตŒๅ…ฅ้€ธ่„ฑใ‚’ใจใ‚‚ใชใ†ไพ‹ใงใฏๅฐ็Ÿญ็ตกใงใ‚ใฃใฆใ‚‚ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅคšๅ‘ผๅธใ€ๅ“บไนณ้šœๅฎณใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ€ๆฐ—้“ๆ„ŸๆŸ“ใฎๅๅพฉใชใฉใฎ็—‡็ŠถใŒใ‚ใ‚‹ๅ ดๅˆใซใฏๅ†…็ง‘ๆฒป็™‚ใจๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ—ใŸไพ‹ใงใฏ็—‡็ŠถใŒ่ปฝๅพฎใงใ‚ใฃใฆใ‚‚6ใ‚ซๆœˆไปฅๅ†…ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใŒใชใใจใ‚‚่‚บไฝ“่ก€ๆต้‡ๆฏ”ใŒ2.0ไปฅไธŠใงๅทฆๅฎคๅฎน้‡่ฒ ่ทๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏๅฐฑๅญฆๅ‰ใซๅฟƒๅ†…ไฟฎๅพฉ่ก“ใ‚’่กŒใ†ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200270" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ventricular septal defect"@en, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; + rdfs:label "Ventricular septal defect"@en, "ใ—ใ‚“ใ—ใคใกใ‚…ใ†ใ‹ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002070 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002070 ; skos:prefLabel "ๅฟƒๅฎคไธญ้š”ๆฌ ๆ็—‡"@ja . -:2200271 - :hasNotificationNumber "77" ; - terms:description "ใ™ในใฆใฎ่‚บ้™่„ˆใ‹ใ‚™ๅทฆๆˆฟใจไบค้€šใ‚’ๅคฑใ„,็›ดๆŽฅๅณๆˆฟใพใŸใฏไฝ“้™่„ˆใจไบค้€šใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใŒ้‚„ๆตใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ใค๏ผˆIๅž‹๏ผšไธŠๅฟƒ่‡“ๅž‹ใ€IIๅž‹๏ผšๅฟƒ่‡“ๅž‹ใ€IIIๅž‹๏ผšไธ‹ๅฟƒ่‡“ๅž‹ใ€IV๏ผšๆททๅˆๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บใ†ใฃ่ก€ใซไผดใ†้‡ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใจๅคšๅ‘ผๅธใ‚’่ชใ‚ใ€็”ŸๅพŒๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฎๅŸบๆœฌใฏๅค–็ง‘ๆฒป็™‚ใงใ€่จบๆ–ญใŒใคใๆฌก็ฌฌใ€ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใฎๆˆ็ธพใฏไธ€่ˆฌใซๅ‘ไธŠใ—ใฆใŠใ‚Šใ€ๆ—ฉๆœŸๆญปไบกใฏ2-15%ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ90%ใงใ‚ใ‚‹ใ€‚็ด„10๏ผ…ใซ่ก“ๅพŒ่‚บ้™่„ˆ็‹ญ็ช„ใŒ็”Ÿใ˜ไบˆๅพŒไธ่‰ฏใฎ่ฆๅ› ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200271" ; - terms:source ; + + nando:hasNotificationNumber "77" ; + dcterms:description "ใ™ในใฆใฎ่‚บ้™่„ˆใŒๅทฆๆˆฟใจไบค้€šใ‚’ๅคฑใ„,็›ดๆŽฅๅณๆˆฟใพใŸใฏไฝ“้™่„ˆใจไบค้€šใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚บ้™่„ˆใŒ้‚„ๆตใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ใค๏ผˆIๅž‹๏ผšไธŠๅฟƒ่‡“ๅž‹ใ€IIๅž‹๏ผšๅฟƒ่‡“ๅž‹ใ€IIIๅž‹๏ผšไธ‹ๅฟƒ่‡“ๅž‹ใ€IV๏ผšๆททๅˆๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šใƒใ‚ขใƒŽใƒผใ‚ผใ‚’่ชใ‚ใ‚‹ใ€‚่‚บใ†ใฃ่ก€ใซไผดใ†้‡ๅบฆใฎใƒใ‚ขใƒŽใƒผใ‚ผใจๅคšๅ‘ผๅธใ‚’่ชใ‚ใ€็”ŸๅพŒๆ—ฉๆœŸใซๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฎๅŸบๆœฌใฏๅค–็ง‘ๆฒป็™‚ใงใ€่จบๆ–ญใŒใคใๆฌก็ฌฌใ€ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ๅค–็ง‘ๆฒป็™‚ใฎๆˆ็ธพใฏไธ€่ˆฌใซๅ‘ไธŠใ—ใฆใŠใ‚Šใ€ๆ—ฉๆœŸๆญปไบกใฏ2-15%ใ€10ๅนด็”Ÿๅญ˜็Ž‡ใฏ90%ใงใ‚ใ‚‹ใ€‚็ด„10๏ผ…ใซ่ก“ๅพŒ่‚บ้™่„ˆ็‹ญ็ช„ใŒ็”Ÿใ˜ไบˆๅพŒไธ่‰ฏใฎ่ฆๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200271" ; + dcterms:source ; a owl:Class ; - rdfs:label "Total anomalous pulmonary venous connection"@en, "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Total anomalous pulmonary venous connection"@en, "ใใ†ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007130 ; skos:prefLabel "็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja . -:2200272 - :hasNotificationNumber "78" ; - terms:description "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฏ,4ๆœฌใฎ่‚บ้™่„ˆใฎใ†ใก1ใ€œ3ๆœฌใ‹ใ‚™ไฝ“้™่„ˆ็ณปใซ็•ฐๅธธ้‚„ๆตใ™ใ‚‹็–พๆ‚ฃใฆใ‚™ใ‚ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่ƒŽ็”Ÿๆ—ฉๆœŸใซๅ…ฑ้€š่‚บ้™่„ˆใฎไธ€้ƒจใŒ้–‰้Ž–ใ—ใ€ไฝ“้™่„ˆ็ณปใจไบค้€šใ‚’ๆฎ‹ใ™ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใฎๅฟƒๅ†…ไฟฎๅพฉๆ‰‹่ก“ๆ™‚ใซใ€ไธ€็ท’ใซๆฒป็™‚ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200272" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:description "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฏ,4ๆœฌใฎ่‚บ้™่„ˆใฎใ†ใก1ใ€œ3ๆœฌใŒไฝ“้™่„ˆ็ณปใซ็•ฐๅธธ้‚„ๆตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่ƒŽ็”Ÿๆ—ฉๆœŸใซๅ…ฑ้€š่‚บ้™่„ˆใฎไธ€้ƒจใŒ้–‰้Ž–ใ—ใ€ไฝ“้™่„ˆ็ณปใจไบค้€šใ‚’ๆฎ‹ใ™ใ“ใจใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใฎๅฟƒๅ†…ไฟฎๅพฉๆ‰‹่ก“ๆ™‚ใซใ€ไธ€็ท’ใซๆฒป็™‚ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200272" ; + dcterms:source ; a owl:Class ; - rdfs:label "Partial anomalous pulmonary venous connection"@en, "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja ; + rdfs:label "Partial anomalous pulmonary venous connection"@en, "ใถใถใ‚“ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‹ใ‚“ใ‚Šใ‚…ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020453 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020453 ; skos:prefLabel "้ƒจๅˆ†่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธ็—‡"@ja . -:2200273 - :hasNotificationNumber "79" ; - terms:description "่‚บ้™่„ˆใŒ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๅ ดๅˆใจใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฎ่ก“ๅพŒใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใŒใ‚ใ‚Œใฐใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใซ๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚้–‰้Ž–ใ—ใฆใ„ใ‚Œใฐใ€็”ŸๅพŒใฏ็”Ÿๅญ˜ใงใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200273" ; - terms:source ; + + nando:hasNotificationNumber "79" ; + dcterms:description "่‚บ้™่„ˆใŒ็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใฎๅ ดๅˆใจใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใฎ่ก“ๅพŒใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚้›ฃๆฒปๆ€งใงใ€ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใ€‚๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚็‹ญ็ช„ใชใ„ใ—้–‰้Ž–ใŒใ‚ใ‚Œใฐใ€้žๅธธใซไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใซ๏ผ”ๆœฌใฎ่‚บ้™่„ˆใฎๅ†…ใ€๏ผ”ๆœฌใจใ‚‚้–‰้Ž–ใ—ใฆใ„ใ‚Œใฐใ€็”ŸๅพŒใฏ็”Ÿๅญ˜ใงใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๆ‰‹่ก“ใงใ‚ใ‚‹ใŒใ€ๅ†็‹ญ็ช„ใฎ้ ปๅบฆใฏ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200273" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary venous obstruction"@en, "่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Pulmonary venous obstruction"@en, "ใฏใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017864 ; skos:prefLabel "่‚บ้™่„ˆ็‹ญ็ช„็—‡"@ja . -:2200274 - :hasNotificationNumber "21" ; - terms:description "ๆฌ ๆๅญ”ใฎ้ƒจไฝใซใ‚ˆใ‚Šไปฅไธ‹ใฎ2็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅผไธŠๅž‹ใงใฏ๏ผŒ ไธ‰ๅฐ–ๅผไธญ้š”ๅฐ–ไป˜็€้ƒจใฎ่†œๆง˜้ƒจไธญ้š”ใ‚ˆใ‚ŠไธŠไฝใซๆฌ ๆใ‚’ๆœ‰ใ—๏ผŒ ๅทฆๅฎคใ‹ใ‚‰็›ดๆŽฅๅณๆˆฟใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒ ๅผไธ‹ๅž‹ใงใฏ๏ผŒ ๆฌ ๆๅญ”ใŒไธญ้š”ๅฐ–ใ‚ˆใ‚Šไธ‹้ƒจใฎๅฟƒๅฎค้–“่†œๆง˜้ƒจไธญ้š”ใซ็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "2200274" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "ๆฌ ๆๅญ”ใฎ้ƒจไฝใซใ‚ˆใ‚Šไปฅไธ‹ใฎ2็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅผไธŠๅž‹ใงใฏ๏ผŒ ไธ‰ๅฐ–ๅผไธญ้š”ๅฐ–ไป˜็€้ƒจใฎ่†œๆง˜้ƒจไธญ้š”ใ‚ˆใ‚ŠไธŠไฝใซๆฌ ๆใ‚’ๆœ‰ใ—๏ผŒ ๅทฆๅฎคใ‹ใ‚‰็›ดๆŽฅๅณๆˆฟใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใ‚‹ใ€‚ไธ€ๆ–น๏ผŒ ๅผไธ‹ๅž‹ใงใฏ๏ผŒ ๆฌ ๆๅญ”ใŒไธญ้š”ๅฐ–ใ‚ˆใ‚Šไธ‹้ƒจใฎๅฟƒๅฎค้–“่†œๆง˜้ƒจไธญ้š”ใซ็”Ÿใ˜ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200274" ; + dcterms:source ; a owl:Class ; - rdfs:label "Left ventricular-right atrial communication"@en, "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡"@ja ; + rdfs:label "Left ventricular-right atrial communication"@en, "ใ•ใ—ใคใ†ใผใ†ใ“ใ†ใคใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020428 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020428 ; skos:prefLabel "ๅทฆๅฎคๅณๆˆฟไบค้€š็—‡"@ja . -:2200275 - :hasNotificationNumber "2" ; - terms:description "ๅณๅฎคใฎๆผๆ–—้ƒจใฎ็‹ญ็ช„ใงใฏใชใ๏ผŒ ๆผๆ–—้ƒจใ‚ˆใ‚Šใ‚‚่ฟ‘ไฝๅดใฎๅณๅฎค่‚‰ๆŸฑ้ƒจใฎ่‚‰ๆŸฑใŒ็•ฐๅธธใซ้ซ˜ใ๏ผŒ ใ‹ใคๅคชใใชใ‚Š๏ผŒ ๅณๅฎคๅ†…ใซ็‹ญ็ช„ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚่ด่จบใงใฏ่ƒธ้ชจๅทฆ็ธใซ่กจๅœจ็š„ใซ็ฒ—ใ้•ทใ„ๅŽ็ธฎๆœŸ้›‘้Ÿณใ‚’ใใ. ๅณๅฎคๅ†…ใฎๅœงๅทฎใŒ30๏ฝž50mmHgไปฅไธŠใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹."@ja ; - terms:identifier "2200275" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ๅณๅฎคใฎๆผๆ–—้ƒจใฎ็‹ญ็ช„ใงใฏใชใ๏ผŒ ๆผๆ–—้ƒจใ‚ˆใ‚Šใ‚‚่ฟ‘ไฝๅดใฎๅณๅฎค่‚‰ๆŸฑ้ƒจใฎ่‚‰ๆŸฑใŒ็•ฐๅธธใซ้ซ˜ใ๏ผŒ ใ‹ใคๅคชใใชใ‚Š๏ผŒ ๅณๅฎคๅ†…ใซ็‹ญ็ช„ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚่ด่จบใงใฏ่ƒธ้ชจๅทฆ็ธใซ่กจๅœจ็š„ใซ็ฒ—ใ้•ทใ„ๅŽ็ธฎๆœŸ้›‘้Ÿณใ‚’ใใ. ๅณๅฎคๅ†…ใฎๅœงๅทฎใŒ30๏ฝž50mmHgไปฅไธŠใ‚ใ‚‹ๅ ดๅˆใซใฏๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹."@ja ; + dcterms:identifier "NANDO:2200275" ; + dcterms:source ; a owl:Class ; - rdfs:label "Double-chambered right ventricle"@en, "ๅณๅฎคไบŒ่…”็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Double-chambered right ventricle"@en, "ใ†ใ—ใคใซใใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅณๅฎคไบŒ่…”็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016581 ; skos:prefLabel "ๅณๅฎคไบŒ่…”็—‡"@ja . -:2200276 - :hasNotificationNumber "86" ; - terms:description "่‚บๅ‹•่„ˆๅผไธ‹๏ผˆๅณๅฎคๆผๆ–—้ƒจ๏ผ‰ใฎ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅณๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅณๅฎคไป•ไบ‹้‡ใŒๅข—ๅคงใ™ใ‚‹ใ€‚ไป–ใซๅฟƒๅฅ‡ๅฝขใŒ็„กใใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒ่‡ช็„ถ้–‰้Ž–ใ—ใŸๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็—‡ไพ‹ใงใฏๅค–็ง‘ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ใƒใƒซใƒผใƒณๆ‹กๅคง่ก“ใฏ็„กๅŠนใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200276" ; - terms:source ; + + nando:hasNotificationNumber "86" ; + dcterms:description "่‚บๅ‹•่„ˆๅผไธ‹๏ผˆๅณๅฎคๆผๆ–—้ƒจ๏ผ‰ใฎ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅณๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅณๅฎคไป•ไบ‹้‡ใŒๅข—ๅคงใ™ใ‚‹ใ€‚ไป–ใซๅฟƒๅฅ‡ๅฝขใŒ็„กใใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใŒ่‡ช็„ถ้–‰้Ž–ใ—ใŸๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็—‡ไพ‹ใงใฏๅค–็ง‘ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ใƒใƒซใƒผใƒณๆ‹กๅคง่ก“ใฏ็„กๅŠนใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200276" ; + dcterms:source ; a owl:Class ; - rdfs:label "Subvalvular pulmonary stenosis"@en, "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; + rdfs:label "Subvalvular pulmonary stenosis"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006935 ; skos:prefLabel "่‚บๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja . -:2200277 - :hasNotificationNumber "64" ; - terms:description "ๅคงๅ‹•่„ˆๅผไธ‹ใฎ่†œๆง˜ใพใŸใฏ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅทฆๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅทฆๅฎคไป•ไบ‹้‡ใฏๅข—ๅคงใ™ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๆˆฟๅฎคไธญ้š”ๆฌ ๆใชใฉใซๅˆไฝตใ™ใ‚‹ใ€‚50mmHgไปฅไธŠใฎๅœงๅทฎใŒใ‚ใ‚‹ใจใใซๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200277" ; - terms:source ; + + nando:hasNotificationNumber "64" ; + dcterms:description "ๅคงๅ‹•่„ˆๅผไธ‹ใฎ่†œๆง˜ใพใŸใฏ็ทš็ถญ็ญ‹ๆ€งใฎ็‹ญ็ช„ใงๅทฆๅฎคๅœง่ฒ ่ทใซใ‚ˆใ‚Šๅทฆๅฎคไป•ไบ‹้‡ใฏๅข—ๅคงใ™ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๆˆฟๅฎคไธญ้š”ๆฌ ๆใชใฉใซๅˆไฝตใ™ใ‚‹ใ€‚50mmHgไปฅไธŠใฎๅœงๅทฎใŒใ‚ใ‚‹ใจใใซๆฒป็™‚ใฎ้ฉๅฟœใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200277" ; + dcterms:source ; a owl:Class ; - rdfs:label "Subvalvular aortic stenosis"@en, "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; + rdfs:label "Subvalvular aortic stenosis"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‹ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006987 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006987 ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผไธ‹็‹ญ็ช„็—‡"@ja . -:2200278 - :hasNotificationNumber "80" ; - terms:description "่‚บๅ‹•่„ˆใฎๅผไธŠใ‚‚ใ—ใใฏๆœซๆขขใซใ‹ใ‘ใฆ็‹ญ็ช„ใ€‚ๅทฆๅณๅฟƒๅฎค้–“ใฎไบค้€šใ‚’ไผดใ‚ใชใ„ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200278" ; - terms:source ; + + nando:hasNotificationNumber "80" ; + dcterms:description "่‚บๅ‹•่„ˆใฎๅผไธŠใ‚‚ใ—ใใฏๆœซๆขขใซใ‹ใ‘ใฆ็‹ญ็ช„ใ€‚ๅทฆๅณๅฟƒๅฎค้–“ใฎไบค้€šใ‚’ไผดใ‚ใชใ„ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200278" ; + dcterms:source ; a owl:Class ; - rdfs:label "Supravalvular pulmonary stenosis"@en, "่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Supravalvular pulmonary stenosis"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017870 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017870 ; skos:prefLabel "่‚บๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡"@ja . -:2200279 - :hasNotificationNumber "81" ; - terms:description "ไธป่‚บๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅณ่‚บๅ‹•่„ˆ,ใ•ใ‚‰ใซๆœซๆขขใฆใ‚™ใฎ่ก€็ฎกๆ€ง็‹ญ็ช„ใฆใ‚™ใ‚ใ‚‹ใ€‚็จฎใ€…ใฎ้ƒจไฝใฆใ‚™็‹ญ็ช„ใจใชใ‚Š,ๅ˜็‹ฌใฎ็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ‹ใ‚™,ๅคšใใฏๅคš็™บๆ€งใฆใ‚™ใ‚ใ‚‹ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200279" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:description "ไธป่‚บๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅณ่‚บๅ‹•่„ˆ,ใ•ใ‚‰ใซๆœซๆขขใงใฎ่ก€็ฎกๆ€ง็‹ญ็ช„ใงใ‚ใ‚‹ใ€‚็จฎใ€…ใฎ้ƒจไฝใง็‹ญ็ช„ใจใชใ‚Š,ๅ˜็‹ฌใฎ็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใŒ,ๅคšใใฏๅคš็™บๆ€งใงใ‚ใ‚‹ใ€‚ไธญๅฟƒ้ƒจ่‚บๅ‹•่„ˆใฎ็‹ญ็ช„ใงใ‚ใ‚Œใฐๆ‰‹่ก“ใงๆ‹กๅคงใงใใ‚‹ใŒใ€ๆœซๆขขๅดใงใฏๆ‰‹่ก“ๆ–ฝ่กŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200279" ; + dcterms:source ; a owl:Class ; - rdfs:label "Peripheral pulmonary stenosis"@en, "ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Peripheral pulmonary stenosis"@en, "ใพใฃใ—ใ‚‡ใ†ใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020420 ; + rdfs:subClassOf ; skos:prefLabel "ๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja . -:2200280 - :hasNotificationNumber "87" ; - terms:description "ๅ…ˆๅคฉ็š„ใซ่‚บๅ‹•่„ˆๅผใŒๆฌ ๆใ—ใ€่‚บๅ‹•่„ˆๅผ่ผช็‹ญ็ช„ใ€่‚บๅ‹•่„ˆๆ‹กๅคงใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๆฐ—็ฎกๅœง่ฟซใ€ๆฐ—็ฎกไฝŽๅฝขๆˆใ‚’ใจใ‚‚ใชใ†ใ“ใจใŒๅคšใ„ใ€‚ๅผๆฌ ๆใฎใ‚ฟใ‚คใƒ—ใจใ—ใฆใ€1)complete type๏ผˆๅผ็ต„็น”ใฎๅฎŒๅ…จๆฌ ๆ๏ผ‰ใ€2)ridge type๏ผˆๅผใŒ็ต็ฏ€็Šถใซๅผ่ผช็›ดไธŠใงridgeใ‚’ๅฝขๆˆ๏ผ‰ใ€3)partial absence๏ผˆๅผใŒไธ€ๅผๅฐ–ใชใ„ใ—ไบŒๅผๅฐ–ๅฝขๆˆใ•ใ‚Œใ€ๆฎ‹ใ‚ŠใŒๆฌ ๆ๏ผ‰ใ‚’ๅซใ‚€ใ€‚ๅคง้ƒจๅˆ†ใฏFallotๅ››ๅพด็—‡ใซๅˆไฝตใ—ใ€ใใฎไป–ใฎๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200280" ; - terms:source ; + + nando:hasNotificationNumber "87" ; + dcterms:description "ๅ…ˆๅคฉ็š„ใซ่‚บๅ‹•่„ˆๅผใŒๆฌ ๆใ—ใ€่‚บๅ‹•่„ˆๅผ่ผช็‹ญ็ช„ใ€่‚บๅ‹•่„ˆๆ‹กๅคงใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ไผดใ†ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๆฐ—็ฎกๅœง่ฟซใ€ๆฐ—็ฎกไฝŽๅฝขๆˆใ‚’ใจใ‚‚ใชใ†ใ“ใจใŒๅคšใ„ใ€‚ๅผๆฌ ๆใฎใ‚ฟใ‚คใƒ—ใจใ—ใฆใ€1)complete type๏ผˆๅผ็ต„็น”ใฎๅฎŒๅ…จๆฌ ๆ๏ผ‰ใ€2)ridge type๏ผˆๅผใŒ็ต็ฏ€็Šถใซๅผ่ผช็›ดไธŠใงridgeใ‚’ๅฝขๆˆ๏ผ‰ใ€3)partial absence๏ผˆๅผใŒไธ€ๅผๅฐ–ใชใ„ใ—ไบŒๅผๅฐ–ๅฝขๆˆใ•ใ‚Œใ€ๆฎ‹ใ‚ŠใŒๆฌ ๆ๏ผ‰ใ‚’ๅซใ‚€ใ€‚ๅคง้ƒจๅˆ†ใฏFallotๅ››ๅพด็—‡ใซๅˆไฝตใ—ใ€ใใฎไป–ใฎๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200280" ; + dcterms:source ; a owl:Class ; - rdfs:label "Absent pulmonary valve"@en, "่‚บๅ‹•่„ˆๅผๆฌ ๆ"@ja ; + rdfs:label "Absent pulmonary valve"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ‘ใฃใใ‚“"@ja-Hira, "่‚บๅ‹•่„ˆๅผๆฌ ๆ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020064 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020064 ; skos:prefLabel "่‚บๅ‹•่„ˆๅผๆฌ ๆ"@ja . -:2200281 - :hasNotificationNumber "82" ; - terms:description "๏ผˆ้€šๅธธใฎๅทฆๅดๅคงๅ‹•่„ˆๅผ“ใซใŠใ„ใฆ๏ผ‰่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅทฆใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅณ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅณ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ใพใŸใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“ใฎๅ ดๅˆใ€่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅณใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅทฆ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅทฆ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆญฃๅธธๅดใ‚‚่‚บ้ซ˜่ก€ๅœงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ€ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่กŒใ„ใ€ใงใใ‚‹้™ใ‚Šๆ—ฉๆœŸใซไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹่‚บๅ‹•่„ˆใ‚’ๅˆ‡ใ‚Š้›ขใ—ใฆไธป่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚"@ja ; - terms:identifier "2200281" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:description "๏ผˆ้€šๅธธใฎๅทฆๅดๅคงๅ‹•่„ˆๅผ“ใซใŠใ„ใฆ๏ผ‰่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅทฆใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅณ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅณ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ใพใŸใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“ใฎๅ ดๅˆใ€่‚บๅ‹•่„ˆๅนน๏ผˆไธป่‚บๅ‹•่„ˆ๏ผ‰ใŒๅณใฎ่‚บๅ‹•่„ˆใซใฎใฟ็งป่กŒใ—ใ€ๅทฆ่‚บๅ‹•่„ˆใŒไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹๏ผˆๅทฆ่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹๏ผ‰็—…ๆ…‹ใ€‚ๅ‹•่„ˆ็ฎก้–‹ๅญ˜ใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆญฃๅธธๅดใ‚‚่‚บ้ซ˜่ก€ๅœงใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ€ๅ‘ผๅธไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ†…็ง‘็š„ๆฒป็™‚ใ‚’่กŒใ„ใ€ใงใใ‚‹้™ใ‚Šๆ—ฉๆœŸใซไธŠ่กŒๅคงๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ™ใ‚‹่‚บๅ‹•่„ˆใ‚’ๅˆ‡ใ‚Š้›ขใ—ใฆไธป่‚บๅ‹•่„ˆใซๅปๅˆใ™ใ‚‹ๆ‰‹่ก“ใ‚’่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200281" ; + dcterms:source ; a owl:Class ; - rdfs:label "Origin of pulmonary artery from ascending aorta"@en, "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; + rdfs:label "Origin of pulmonary artery from ascending aorta"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใใ˜ใ‚‡ใ†ใ“ใ†ใ ใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020391 ; skos:prefLabel "่‚บๅ‹•่„ˆไธŠ่กŒๅคงๅ‹•่„ˆ่ตทๅง‹็—‡"@ja . -:2200282 - :hasNotificationNumber "1" ; - terms:description "ๅณๅฎคใ‹ใ‚‰ไธป่‚บๅ‹•่„ˆใ‚’็ตŒใฆใ€็‰‡ๅดใฎ่‚บๅ‹•่„ˆใซใฎใฟใคใชใŒใ‚Šใ€ๅๅฏพๅดใฎ่‚บๅ‹•่„ˆใŒ่‡จๅบŠ็š„ใซ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚่‚บๅ‹•่„ˆๅˆ†ๆž้ƒจใŒๆฌ ๆใ™ใ‚‹ใŒใ€่‚บ้–€้ƒจใ‹ใ‚‰ๆœซๆขขใฏๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใงใใ‚Œใฐใ€ๆ‚ฃๅด่‚บๅ‹•่„ˆใซ็Ÿญ็ตก่ก“ใ‚’ๆ–ฝ่กŒใ—ใ€่‚บๅ‹•่„ˆใŒๆˆ้•ทใ™ใ‚Œใฐใ€ไธป่‚บๅ‹•่„ˆใจๆฌ ๆๅดใฎ่‚บๅ‹•่„ˆใ‚’ใคใชใๆ‰‹่ก“ใ‚’ๆคœ่จŽใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200282" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "ๅณๅฎคใ‹ใ‚‰ไธป่‚บๅ‹•่„ˆใ‚’็ตŒใฆใ€็‰‡ๅดใฎ่‚บๅ‹•่„ˆใซใฎใฟใคใชใŒใ‚Šใ€ๅๅฏพๅดใฎ่‚บๅ‹•่„ˆใŒ่‡จๅบŠ็š„ใซ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚่‚บๅ‹•่„ˆๅˆ†ๆž้ƒจใŒๆฌ ๆใ™ใ‚‹ใŒใ€่‚บ้–€้ƒจใ‹ใ‚‰ๆœซๆขขใฏๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ใงใใ‚Œใฐใ€ๆ‚ฃๅด่‚บๅ‹•่„ˆใซ็Ÿญ็ตก่ก“ใ‚’ๆ–ฝ่กŒใ—ใ€่‚บๅ‹•่„ˆใŒๆˆ้•ทใ™ใ‚Œใฐใ€ไธป่‚บๅ‹•่„ˆใจๆฌ ๆๅดใฎ่‚บๅ‹•่„ˆใ‚’ใคใชใๆ‰‹่ก“ใ‚’ๆคœ่จŽใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200282" ; + dcterms:source ; a owl:Class ; - rdfs:label "Unilateral absence of a pulmonary artery"@en, "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ"@ja ; + rdfs:label "Unilateral absence of a pulmonary artery"@en, "ใ„ใฃใใใฏใ„ใฉใ†ใฟใ‚ƒใใ‘ใฃใใ‚“"@ja-Hira, "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020007 ; skos:prefLabel "ไธ€ๅด่‚บๅ‹•่„ˆๆฌ ๆ"@ja . -:2200283 - :hasNotificationNumber "59" ; - terms:description "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไธŠๅŠ่บซใฏ้ซ˜่ก€ๅœงใจใชใ‚Šใ€่„ณๅ‡บ่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200283" ; - terms:source ; + + nando:hasNotificationNumber "59" ; + dcterms:description "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ไธŠๅŠ่บซใฏ้ซ˜่ก€ๅœงใจใชใ‚Šใ€่„ณๅ‡บ่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200283" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coarctation of the aorta"@en, "ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007345 ; + rdfs:label "Coarctation of the aorta"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใ—ใ‚…ใใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007345 ; skos:prefLabel "ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡"@ja . -:2200284 - :hasNotificationNumber "60" ; - terms:description "ๅคงๅ‹•่„ˆ็ธฎ็ช„ใฏๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใŸ็‹ญ็ช„ใ€‚ๅคงๅ‹•่„ˆๅณก้ƒจใฎไฝŽๅฝขๆˆใ‚‚ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็”ŸๅพŒใพใ‚‚ใชใใฏๅ‹•่„ˆ็ฎกใŒ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŒใ€้–‰้Ž–ใ™ใ‚‹ใจใ€ใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใชใ‚‹ใ€‚่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ซ˜ๅบฆใฎๅฟƒไธๅ…จใจใชใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ใŒๅฟ…่ฆใช้‡็—‡ๅฟƒ็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200284" ; - terms:source ; + + nando:hasNotificationNumber "60" ; + dcterms:description "ๅคงๅ‹•่„ˆ็ธฎ็ช„ใฏๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใ€ใ™ใชใ‚ใกๅคงๅ‹•่„ˆใธใฎๅ‹•่„ˆ็ฎกๆŽฅ็ถš้ƒจใซ็”Ÿใ˜ใŸ็‹ญ็ช„ใ€‚ๅคงๅ‹•่„ˆๅณก้ƒจใฎไฝŽๅฝขๆˆใ‚‚ๅˆไฝตใ—ใฆใ„ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคงๅ‹•่„ˆ็ธฎ็ช„ใจๅฟƒๅฎคไธญ้š”ๆฌ ๆใ‚’ๅˆไฝตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚็”ŸๅพŒใพใ‚‚ใชใใฏๅ‹•่„ˆ็ฎกใŒ้–‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŒใ€้–‰้Ž–ใ™ใ‚‹ใจใ€ใ‚ทใƒงใƒƒใ‚ฏ็Šถๆ…‹ใซใชใ‚‹ใ€‚่‚บ่ก€ๆตใŒๅข—ๅŠ ใ—ใฆใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ซ˜ๅบฆใฎๅฟƒไธๅ…จใจใชใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ใŒๅฟ…่ฆใช้‡็—‡ๅฟƒ็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200284" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coarctation complex"@en, "ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Coarctation complex"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใ—ใ‚…ใใ•ใใตใใ”ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007345, obo:MONDO_0015446 ; skos:prefLabel "ๅคงๅ‹•่„ˆ็ธฎ็ช„่ค‡ๅˆ"@ja . -:2200285 - :hasNotificationNumber "61" ; - terms:description "ๅคงๅ‹•่„ˆๅผไธŠใ€Valsalvaๆดžใ‚ˆใ‚Š้ ไฝใŒ้™ๅฑ€ๆ€งใซ็‹ญ็ช„ใ—ใŸ็—…ๆ…‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆใฎไฝŽๅฝขๆˆใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚Williams็—‡ๅ€™็พคใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ€ๅฎถๆ—ๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ๅ‰ๅพŒใฎๅœง่ผƒๅทฎใŒ50mmHgไปฅไธŠใฎ็—‡ไพ‹ใฏๆ‰‹่ก“้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200285" ; - terms:source ; + + nando:hasNotificationNumber "61" ; + dcterms:description "ๅคงๅ‹•่„ˆๅผไธŠใ€Valsalvaๆดžใ‚ˆใ‚Š้ ไฝใŒ้™ๅฑ€ๆ€งใซ็‹ญ็ช„ใ—ใŸ็—…ๆ…‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆใฎไฝŽๅฝขๆˆใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚Williams็—‡ๅ€™็พคใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ€ๅฎถๆ—ๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ๅ‰ๅพŒใฎๅœง่ผƒๅทฎใŒ50mmHgไปฅไธŠใฎ็—‡ไพ‹ใฏๆ‰‹่ก“้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200285" ; + dcterms:source ; a owl:Class ; - rdfs:label "Supravalvular aortic stenosis"@en, "ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Supravalvular aortic stenosis"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใ˜ใ‚‡ใ†ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008504 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008504 ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„็—‡"@ja . -:2200286 - :hasNotificationNumber "58" ; - terms:description "็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰น็•ฐใชๆ€งๆ ผใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใŠใ‚ˆใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒ๏ผŒ้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹๏ผŽใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—๏ผŒ็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„๏ผŒ็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใ€‚"@ja ; - terms:identifier "2200286" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:description "็‰นๅพด็š„ใชๅฆ–็ฒพๆง˜้ก”่ฒŒใ€็ฒพ็ฅž็™บ้”้…ๆปžใ€็‰น็•ฐใชๆ€งๆ ผใ€ๅคงๅ‹•่„ˆๅผไธŠ็‹ญ็ช„ใŠใ‚ˆใณๆœซๆขขๆ€ง่‚บๅ‹•่„ˆ็‹ญ็ช„ใ‚’ไธปๅพดใจใ™ใ‚‹ๅฟƒ่ก€็ฎก็—…ๅค‰ใ€ไนณๅ…ๆœŸใฎ้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใชใฉใ‚’ๆœ‰ใ™ใ‚‹้šฃๆŽฅ้บไผๅญ็—‡ๅ€™็พคใ€‚็—‡็Šถใฎ้€ฒ่กŒใ‚’่ชใ‚ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒๅŠ ้ฝขใซใ‚ˆใ‚Šใจใใซ็ฒพ็ฅž็ฅž็ตŒ้ขใฎๅ•้กŒ๏ผŒ้ซ˜่ก€ๅœงใŒ้ก•่‘—ใซใชใ‚‹๏ผŽใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใซๅฏพใ—๏ผŒ็”Ÿๆถฏ็š„ใซๅŒป็™‚็š„๏ผŒ็คพไผš็š„ไป‹ๅ…ฅใŒๅฟ…่ฆใ€‚"@ja ; + dcterms:identifier "NANDO:2200286" ; + dcterms:source ; a owl:Class ; - rdfs:label "Williams syndrome"@en, "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Williams syndrome"@en, "ใ†ใƒใ‚Šใ‚ใ‚€ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Williams็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008678 ; + skos:closeMatch obo:MONDO_0008678 ; skos:prefLabel "ใ‚ฆใ‚ฃใƒชใ‚ขใƒ ใ‚บ็—‡ๅ€™็พค"@ja . -:2200287 - :hasNotificationNumber "62" ; - terms:description "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใจใ‚ˆใถใŒใ€ใใ‚Œไปฅๅค–ใฎ้ƒจไฝใ€ๅคšใใฏใ€ๆจช้š”่†œไฝใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็‹ญ็ช„ใจๅ‘ผใถใ€‚Mid aortic syndromeใจใ‚‚ๅ‘ผใถใ€‚ๅคงๅ‹•่„ˆ็‚Žใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ€‚่…Žๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚‚ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็‹ญ็ช„ใซใ‚ˆใ‚‹่™š่ก€็—‡็Šถใ€็‹ญ็ช„้ƒจๅ‰ใฎ่ก€ๅœงไธŠๆ˜‡ใซใ‚ˆใ‚Šใ€่„ณ่™š่ก€ใ€่„ณๅ‡บ่ก€ใ€่…Ž่™š่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹"@ja ; - terms:identifier "2200287" ; - terms:source ; + + nando:hasNotificationNumber "62" ; + dcterms:description "ๅคงๅ‹•่„ˆๅณก้ƒจใจไธ‹่กŒๅคงๅ‹•่„ˆใฎ็งป่กŒ้ƒจใซ็”Ÿใ˜ใ‚‹็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็ธฎ็ช„็—‡ใจใ‚ˆใถใŒใ€ใใ‚Œไปฅๅค–ใฎ้ƒจไฝใ€ๅคšใใฏใ€ๆจช้š”่†œไฝใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚’ๅคงๅ‹•่„ˆ็‹ญ็ช„ใจๅ‘ผใถใ€‚Mid aortic syndromeใจใ‚‚ๅ‘ผใถใ€‚ๅคงๅ‹•่„ˆ็‚Žใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸๅ…ˆๅคฉ็š„ใช็‹ญ็ช„ใ‚‚ใ‚ใ‚‹ใ€‚่…Žๅ‹•่„ˆใฎ็‹ญ็ช„ใ‚‚ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคใฎๅœง่ฒ ่ทใ‚’ใใŸใ™ใ€‚็‹ญ็ช„ใŒ้ซ˜ๅบฆใ ใจใ€ไนณๅ…ๆœŸใ‹ใ‚‰ๅฟƒไธๅ…จใ‚’ใใŸใ™ใ€‚ๆˆไบบๆœŸใพใง็„ก็—‡็Šถใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็‹ญ็ช„ใซใ‚ˆใ‚‹่™š่ก€็—‡็Šถใ€็‹ญ็ช„้ƒจๅ‰ใฎ่ก€ๅœงไธŠๆ˜‡ใซใ‚ˆใ‚Šใ€่„ณ่™š่ก€ใ€่„ณๅ‡บ่ก€ใ€่…Ž่™š่ก€ใ€ๅ† ๅ‹•่„ˆ็กฌๅŒ–ใ€ๅฟƒ็ญ‹ๆข—ๅกžใชใฉใงใ€ๅฏฟๅ‘ฝใฏ้€šๅธธใ‚ˆใ‚Š็Ÿญใ„ใ€‚ๆฒป็™‚ใจ็ตŒ้Ž่ฆณๅฏŸใŒๅฟ…่ฆใช็–พๆ‚ฃใงใ‚ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200287" ; + dcterms:source ; a owl:Class ; - rdfs:label "70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja, "Other Coarctation of the aorta"@en ; + rdfs:label "70ใ‹ใ‚‰73ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja, "Other coarctation of the aorta"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "70ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคงๅ‹•่„ˆ็‹ญ็ช„็—‡"@ja . -:2200288 - :hasNotificationNumber "57" ; - terms:description "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจใŒๆฌ ๆใƒป้›ขๆ–ญใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ๅฟƒ็–พๆ‚ฃใ€‚้›ขๆ–ญใ—ใฆใ„ใ‚‹้ƒจไฝใซใ‚ˆใ‚ŠAๅž‹(ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎๆœซๆขขใง้›ขๆ–ญ)ใ€Bๅž‹(ๅทฆ็ท้ ธๅ‹•่„ˆใจๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎ้–“ใง้›ขๆ–ญ)ใ€Cๅž‹(ๅณ่…•้ ญๅ‹•่„ˆใจๅทฆ็ท้ ธๅ‹•่„ˆใจใฎ้–“ใง้›ขๆ–ญ)ใซ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹(Celoria-Pattonๅˆ†้กž)ใ€‚ๆ–ฐ็”Ÿๅ…ๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅ‘ผๅธใ€้™ฅๆฒกๅ‘ผๅธใ€ๅ“บไนณๅ›ฐ้›ฃใ€ๅฐฟ้‡ไฝŽไธ‹ใชใฉใฎๅฟƒไธๅ…จ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200288" ; - terms:source ; + + nando:hasNotificationNumber "57" ; + dcterms:description "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจใŒๆฌ ๆใƒป้›ขๆ–ญใ—ใ€ๅฟƒๅฎคไธญ้š”ๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ๅฎŒๅ…จๅคง่ก€็ฎก่ปขไฝใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹ใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ๅฟƒ็–พๆ‚ฃใ€‚้›ขๆ–ญใ—ใฆใ„ใ‚‹้ƒจไฝใซใ‚ˆใ‚ŠAๅž‹(ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎๆœซๆขขใง้›ขๆ–ญ)ใ€Bๅž‹(ๅทฆ็ท้ ธๅ‹•่„ˆใจๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆใฎ้–“ใง้›ขๆ–ญ)ใ€Cๅž‹(ๅณ่…•้ ญๅ‹•่„ˆใจๅทฆ็ท้ ธๅ‹•่„ˆใจใฎ้–“ใง้›ขๆ–ญ)ใซ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹(Celoria-Pattonๅˆ†้กž)ใ€‚ๆ–ฐ็”Ÿๅ…ๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅ‘ผๅธใ€้™ฅๆฒกๅ‘ผๅธใ€ๅ“บไนณๅ›ฐ้›ฃใ€ๅฐฟ้‡ไฝŽไธ‹ใชใฉใฎๅฟƒไธๅ…จ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200288" ; + dcterms:source ; a owl:Class ; - rdfs:label "Interruption of aortic arch complex"@en, "ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ"@ja ; + rdfs:label "Interruption of aortic arch complex"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใ‚Šใ ใ‚“ใตใใ”ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009010 ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผ“้›ขๆ–ญ่ค‡ๅˆ"@ja . -:2200289 - :hasNotificationNumber "56" ; - terms:description "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจๅ†…่…”ใŒ้–‰ๅกžใ—็ดข็Šถ็‰ฉใงใคใชใŒใ‚‹ใ‚‚ใฎใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200289" ; - terms:source ; + + nando:hasNotificationNumber "56" ; + dcterms:description "ๅคงๅ‹•่„ˆๅผ“ใฎไธ€้ƒจๅ†…่…”ใŒ้–‰ๅกžใ—็ดข็Šถ็‰ฉใงใคใชใŒใ‚‹ใ‚‚ใฎใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใชใฉใฎๅฟƒๅ†…ๅฅ‡ๅฝขใ‚’ๅˆไฝตใ—ใชใ„ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณE1็‚นๆปดใŒๅฟ…่ฆใ€ใพใŸๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซๆ‰‹่ก“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200289" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aortic arch occlusive disease"@en, "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡"@ja ; + rdfs:label "Aortic arch occlusive disease"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใธใ„ใใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผ“้–‰ๅกž็—‡"@ja . -:2200290 - :hasNotificationNumber "18" ; - terms:description "ๅณๅคงๅ‹•่„ˆๅผ“ใจๅทฆๅคงๅ‹•่„ˆๅผ“ใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใจใชใ‚Šใ€่ก€็ฎก่ผชใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ๅทฆๅณใฎๅคงๅ‹•่„ˆๅผ“ใฏๅˆๆตใ—ใฆไธ‹่กŒๅคงๅ‹•่„ˆใจใชใ‚‹ใ€‚ๅทฆๅณๅคงๅ‹•่„ˆๅผ“ใซๆŒŸใพใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200290" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "ๅณๅคงๅ‹•่„ˆๅผ“ใจๅทฆๅคงๅ‹•่„ˆๅผ“ใฎๆฎ‹ๅญ˜ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใจใชใ‚Šใ€่ก€็ฎก่ผชใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚ๅทฆๅณใฎๅคงๅ‹•่„ˆๅผ“ใฏๅˆๆตใ—ใฆไธ‹่กŒๅคงๅ‹•่„ˆใจใชใ‚‹ใ€‚ๅทฆๅณๅคงๅ‹•่„ˆๅผ“ใซๆŒŸใพใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200290" ; + dcterms:source ; a owl:Class ; - rdfs:label "Double aortic arch disease"@en, "้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡"@ja ; + rdfs:label "Double aortic arch disease"@en, "ใ˜ใ‚…ใ†ใตใใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020413 ; skos:prefLabel "้‡่ค‡ๅคงๅ‹•่„ˆๅผ“็—‡"@ja . -:2200291 - :hasNotificationNumber "17" ; - terms:description "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นใ€ใŠใ‚ˆใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจใŠใ‚ˆใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ๅˆไฝตใฎไบˆๅพŒใฏๆ‚ชใ„ใ€‚"@ja ; - terms:identifier "2200291" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "ๅทฆ่‚บๅ‹•่„ˆใŒๅณ่‚บๅ‹•่„ˆใ‹ใ‚‰่ตทๅง‹ใ—ใ€ๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกๅˆ†ๅฒ้ƒจ็›ดไธŠใ‚’่ฟ‚ๅ›žใ—ใ€ๆฐ—็ฎกใฎๅพŒๆ–นใ€ใŠใ‚ˆใณ้ฃŸ้“ใฎๅ‰ๆ–นใ‚’้€šใ‚Šๅทฆ่‚บใซ่‡ณใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธ่ตฐ่กŒใซใ‚ˆใ‚Šๅณๆฐ—็ฎกๆ”ฏใจๆฐ—็ฎกไธ‹้ƒจใŠใ‚ˆใณ้ฃŸ้“ใŒๅœง่ฟซใ•ใ‚Œใ‚‹ใ€‚ๅœง่ฟซใฎ็จ‹ๅบฆใซใ‚ˆใ‚Šๅ‡บ็”Ÿ็›ดๅพŒใ‹ใ‚‰้‡็ฏคใชๅ‘ผๅธๅ™จ็—‡็Šถใ‚’ๆƒน่ตทใ—ใ†ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚้‡็ฏคใชๆฐ—็ฎกๆ”ฏ็‹ญ็ช„ๅˆไฝตใฎไบˆๅพŒใฏๆ‚ชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200291" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vascular sling"@en, "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Vascular sling"@en, "ใฒใ ใ‚Šใฏใ„ใฉใ†ใฟใ‚ƒใใฟใŽใฏใ„ใฉใ†ใฟใ‚ƒใใใ—ใ—ใ‚‡ใ†"@ja-Hira, "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PA sling"@en, "Pulmonary artery sling"@en ; skos:prefLabel "ๅทฆ่‚บๅ‹•่„ˆๅณ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡"@ja . -:2200292 - :hasNotificationNumber "19" ; - terms:description "ไธกๅดใฎ็ฌฌ4้ฐ“ๅผ“ๅ‹•่„ˆใฎ้บๆฎ‹ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใŒๅฝขๆˆใ•ใ‚Œใ€็™บ็”Ÿใฎ้Ž็จ‹ใงไธ€้ƒจใฎ่ก€็ฎกใŒ้€€็ธฎใƒปๆถˆๅคฑใ—ใ€่ก€็ฎก่ผชใŒ็”Ÿใ˜ใ‚‹ใ€‚็—…ๅž‹ใจใ—ใฆใฏๅณ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆๅดๅ‹•่„ˆ็ฎกใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅทฆ็ท้ ธๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€็„กๅๅ‹•่„ˆใซใ‚ˆใ‚‹ๅœง่ฟซใชใฉใŒใ‚ใ‚‹ใ€‚่ผช็ŠถใจใชใฃใŸ่ก€็ฎกใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใฎๅœง่ฟซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚็—…ๅž‹ใซใ‚ˆใฃใฆใฏFallotๅ››ๅพด็—‡ใชใฉใซๅˆไฝตใ—ใฆๅ‡บ็พใ€‚ๅ‘ผๅธๅ™จใƒปๆถˆๅŒ–ๅ™จ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใซ่ก€็ฎก่ผชใ‚’่งฃ้™คใ™ใ‚‹ๅค–็ง‘็š„ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200292" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ไธกๅดใฎ็ฌฌ4้ฐ“ๅผ“ๅ‹•่„ˆใฎ้บๆฎ‹ใซใ‚ˆใ‚Š้‡่ค‡ๅคงๅ‹•่„ˆๅผ“ใŒๅฝขๆˆใ•ใ‚Œใ€็™บ็”Ÿใฎ้Ž็จ‹ใงไธ€้ƒจใฎ่ก€็ฎกใŒ้€€็ธฎใƒปๆถˆๅคฑใ—ใ€่ก€็ฎก่ผชใŒ็”Ÿใ˜ใ‚‹ใ€‚็—…ๅž‹ใจใ—ใฆใฏๅณ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆๅดๅ‹•่„ˆ็ฎกใ€ๅณๅดๅคงๅ‹•่„ˆๅผ“๏ผ‹ๅทฆ้Ž–้ชจไธ‹ๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€ๅทฆ็ท้ ธๅ‹•่„ˆ่ตทๅง‹็•ฐๅธธใ€็„กๅๅ‹•่„ˆใซใ‚ˆใ‚‹ๅœง่ฟซใชใฉใŒใ‚ใ‚‹ใ€‚่ผช็ŠถใจใชใฃใŸ่ก€็ฎกใซใ‚ˆใ‚Šๆฐ—็ฎกใ€้ฃŸ้“ใฎๅœง่ฟซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚็—…ๅž‹ใซใ‚ˆใฃใฆใฏFallotๅ››ๅพด็—‡ใชใฉใซๅˆไฝตใ—ใฆๅ‡บ็พใ€‚ๅ‘ผๅธๅ™จใƒปๆถˆๅŒ–ๅ™จ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใซ่ก€็ฎก่ผชใ‚’่งฃ้™คใ™ใ‚‹ๅค–็ง‘็š„ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200292" ; + dcterms:source ; a owl:Class ; - rdfs:label "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช"@ja, "Vascular ring"@en ; + rdfs:label "77ใŠใ‚ˆใณ78ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ‹ใ‚“ใ‚Šใ‚“"@ja-Hira, "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช"@ja, "Other vascular ring"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€็ฎก่ผช"@ja . -:2200293 - :hasNotificationNumber "66" ; - terms:description "ๅ…ˆๅคฉ็š„ใซๆ”ฏๆŒ็ต„็น”ใฎ่„†ๅผฑๆ€งใซใ‚ˆใ‚ŠValsalvaๆดžใฎไธ€้ƒจใŒๅณๅฎคใ‚‚ใ—ใใฏๅณๆˆฟใซ็˜ค็Šถใซ็ชๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ๆผๆ–—้ƒจๅฟƒๅฎคไธญ้š”ๆฌ ๆใซๅคงๅ‹•่„ˆๅผใจใƒใƒซใ‚ตใƒซใƒๆดžใŒ่ฝใก่พผใฟใ€ใƒใƒซใ‚ตใƒซใƒๆดžใฎๆ‹กๅคงใจๅผใฎ้€ธ่„ฑใ‚’ใใŸใ—ใŸใ‚‚ใฎใŒๅคšใ„ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏใƒใƒซใ‚ตใƒซใƒๆดžใง้–‰้Ž–ใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅค‰ๅฝขใ‹ใ‚‰้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใƒใƒซใ‚ตใƒซใƒๆดžใŒๅณๅฎคใชใฉไบค้€šใ‚’ไฝœใ‚‹ใ“ใจใŒใ‚ใ‚‹๏ผˆใƒใƒซใ‚ตใƒซใƒๆดž็ ด่ฃ‚๏ผ‰ใ€‚็ ด่ฃ‚ใ™ใ‚‹ใจใ€็ช็„ถใฎ่ƒธ็—›ใจใจใ‚‚ใซใ€ๅทฆๅณ็Ÿญ็ตกใ‚’ใใŸใ™ใ€‚ๆ‰‹่ก“้ฉๅฟœใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200293" ; - terms:source ; + + nando:hasNotificationNumber "66" ; + dcterms:description "ๅ…ˆๅคฉ็š„ใซๆ”ฏๆŒ็ต„็น”ใฎ่„†ๅผฑๆ€งใซใ‚ˆใ‚ŠValsalvaๆดžใฎไธ€้ƒจใŒๅณๅฎคใ‚‚ใ—ใใฏๅณๆˆฟใซ็˜ค็Šถใซ็ชๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ๆผๆ–—้ƒจๅฟƒๅฎคไธญ้š”ๆฌ ๆใซๅคงๅ‹•่„ˆๅผใจใƒใƒซใ‚ตใƒซใƒๆดžใŒ่ฝใก่พผใฟใ€ใƒใƒซใ‚ตใƒซใƒๆดžใฎๆ‹กๅคงใจๅผใฎ้€ธ่„ฑใ‚’ใใŸใ—ใŸใ‚‚ใฎใŒๅคšใ„ใ€‚ๅฟƒๅฎคไธญ้š”ๆฌ ๆใฏใƒใƒซใ‚ตใƒซใƒๆดžใง้–‰้Ž–ใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆๅผใฎๅค‰ๅฝขใ‹ใ‚‰้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸใƒใƒซใ‚ตใƒซใƒๆดžใŒๅณๅฎคใชใฉไบค้€šใ‚’ไฝœใ‚‹ใ“ใจใŒใ‚ใ‚‹๏ผˆใƒใƒซใ‚ตใƒซใƒๆดž็ ด่ฃ‚๏ผ‰ใ€‚็ ด่ฃ‚ใ™ใ‚‹ใจใ€็ช็„ถใฎ่ƒธ็—›ใจใจใ‚‚ใซใ€ๅทฆๅณ็Ÿญ็ตกใ‚’ใใŸใ™ใ€‚ๆ‰‹่ก“้ฉๅฟœใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200293" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aneurysm of sinus valsalva"@en, "ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค"@ja ; + rdfs:label "Aneurysm of sinus valsalva"@en, "ใฐใ‚‹ใ•ใ‚‹ใฐใฉใ†ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Valsalvaๆดžๅ‹•่„ˆ็˜ค"@ja ; - skos:closeMatch mondo:MONDO_0015197 ; + skos:closeMatch obo:MONDO_0015197 ; skos:prefLabel "ใƒใƒซใ‚ตใƒซใƒๆดžๅ‹•่„ˆ็˜ค"@ja . -:2200294 - :hasNotificationNumber "65" ; - terms:description "ๅคงๅ‹•่„ˆใฎไธ€้ƒจใฎๅฃใŒใ€ๅ…จๅ‘จๆ€งใ€ใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆ‹กๅคงใพใŸใฏ็ชๅ‡บใ—ใŸ็Šถๆ…‹ใ€‚ๅฃใฎไธ€้ƒจใŒๅฑ€ๆ‰€็š„ใซๆ‹กๅผตใ—ใฆ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ๅ ดๅˆใ€ใพใŸใฏ็›ดๅพ„ใŒๆญฃๅธธๅพ„ใฎ1.5ๅ€๏ผˆ่ƒธ้ƒจใง45mm๏ผ‰ใ‚’่ถ…ใˆใฆๆ‹กๅคงใ—ใŸๅ ดๅˆใซ็˜คใจ็งฐใ—ใฆใ„ใ‚‹ใ€‚ๆ‹กๅคงใ—ใŸ่ก€็ฎกๅฃใฏ่„†ๅผฑใซใชใ‚Šๅคงๅ‹•่„ˆ่งฃ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใใชใ‚‹ใ€‚Marfan็—‡ๅ€™็พค๏ผˆใŠใ‚ˆใณ้กžไผผ็–พๆ‚ฃ๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงๅพ„55mmไปฅไธŠใฎ็˜คใซๅฏพใ—ใฆๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆโ€”ๅผ“้ƒจใฎ็˜คใฏๅค–็ง‘ๆฒป็™‚ใ€ไธ‹่กŒๅคงๅ‹•่„ˆใฎ็˜คใฏใ€ๆˆไบบใงใ‚ใ‚Œใฐใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๆ–ฝ่กŒใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "2200294" ; - terms:source ; + + nando:hasNotificationNumber "65" ; + dcterms:description "ๅคงๅ‹•่„ˆใฎไธ€้ƒจใฎๅฃใŒใ€ๅ…จๅ‘จๆ€งใ€ใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆ‹กๅคงใพใŸใฏ็ชๅ‡บใ—ใŸ็Šถๆ…‹ใ€‚ๅฃใฎไธ€้ƒจใŒๅฑ€ๆ‰€็š„ใซๆ‹กๅผตใ—ใฆ็˜คใ‚’ๅฝขๆˆใ™ใ‚‹ๅ ดๅˆใ€ใพใŸใฏ็›ดๅพ„ใŒๆญฃๅธธๅพ„ใฎ1.5ๅ€๏ผˆ่ƒธ้ƒจใง45mm๏ผ‰ใ‚’่ถ…ใˆใฆๆ‹กๅคงใ—ใŸๅ ดๅˆใซ็˜คใจ็งฐใ—ใฆใ„ใ‚‹ใ€‚ๆ‹กๅคงใ—ใŸ่ก€็ฎกๅฃใฏ่„†ๅผฑใซใชใ‚Šๅคงๅ‹•่„ˆ่งฃ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใใชใ‚‹ใ€‚Marfan็—‡ๅ€™็พค๏ผˆใŠใ‚ˆใณ้กžไผผ็–พๆ‚ฃ๏ผ‰ใ‚„ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงๅพ„55mmไปฅไธŠใฎ็˜คใซๅฏพใ—ใฆๆฒป็™‚้ฉๅฟœใจใชใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆโ€”ๅผ“้ƒจใฎ็˜คใฏๅค–็ง‘ๆฒป็™‚ใ€ไธ‹่กŒๅคงๅ‹•่„ˆใฎ็˜คใฏใ€ๆˆไบบใงใ‚ใ‚Œใฐใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚ๅฐๅ…ใงใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๆ–ฝ่กŒใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200294" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aortic aneurysm"@en, "ๅคงๅ‹•่„ˆ็˜ค"@ja ; + rdfs:label "Aortic aneurysm"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆ็˜ค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005160 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005160 ; skos:prefLabel "ๅคงๅ‹•่„ˆ็˜ค"@ja . -:2200295 - :hasNotificationNumber "70" ; - terms:description "็—…็†ๅญฆ็š„ใซใฏๆ•ฐ็จฎ้กžใŒๅŒบๅˆฅใ•ใ‚Œใ‚‹ใŒใ€็—…ๆ…‹็”Ÿ็†ๅญฆ็š„ใซ่‚บๅ‹•่„ˆใŒ่‚บๆฏ›็ดฐ่ก€็ฎกใ‚’็ตŒ้Žใ›ใšใซ่‚บ้™่„ˆใซๆŽฅ็ถšใ™ใ‚‹ๅ ดๅˆใ‚’่‚บๅ‹•้™่„ˆ็—ฎใจใ‚ˆใถใ€‚่งฃๅ‰–๏ผšๅคงใพใ‹ใซใฏ4็จฎ้กžใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฎ่ก€็ฎก่…ซๅž‹ใฏๅคšๆ•ฐใฎ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใจ่‚บ้™่„ˆใŒใคใชใŒใ‚‹ใ€‚็ฌฌไบŒใฎๅ‹•่„ˆ็˜คๅž‹ใงใฏ็ƒๅž‹ใ€ใพใŸใฏๆ‹กๅผตใ—ใŸ็ฎก็Šถ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใŒ่‚บ้™่„ˆใซใคใชใŒใ‚‹ใ€‚็ฌฌไธ‰ใฎ่‚บๅ‹•่„ˆๅทฆๆˆฟไบค้€š็—‡ใงใฏๅณ่‚บๅ‹•่„ˆใฎๆžใŒ็›ดๆŽฅๅทฆๆˆฟใซใคใชใŒใ‚‹ใ€‚็ฌฌๅ››ใฎใณใพใ‚“ๆ€งใฎๅž‹ใงใฏใ€ๅ…จ่‚บ้‡Žใซใ‚ใŸใ‚Šใ€่‚บๅ‹•่„ˆๆŠนๆถˆใง็„กๆ•ฐใฎๆ‹กๅผตใ—ใŸๅฐ่ก€็ฎกใŒๅ‹•้™่„ˆ็˜ปใ‚’ๅฝขๆˆใ™ใ‚‹ๅž‹ใงใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹๏ผš่‚บๅ‹•่„ˆใฎ้™่„ˆ่ก€ใŒ้…ธ็ด ๅŒ–ใ•ใ‚Œใšใซ่‚บ้™่„ˆใธๆตใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅœงใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ่‚บ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆ่ก€ใฎ้…ธ็ด ้ฃฝๅ’Œๅบฆใฏๆง˜ใ€…ใช็จ‹ๅบฆใซไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ๅฟƒๆ‹ๅ‡บ้‡ใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง่‚บๅˆ‡้™คใ™ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚Œใšใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปใงใ‚ใ‚‹ใ€‚็˜ปใŒใณใพใ‚“ๆ€งใฎๆ™‚ใฏใ€ๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ€€็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ใณใพใ‚“ๆ€งใงใชใ„ๆ™‚ใฏใ€ๆฒป็™‚ๅพŒใฏไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใชใจใใฏไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200295" ; - terms:source ; + + nando:hasNotificationNumber "70" ; + dcterms:description "็—…็†ๅญฆ็š„ใซใฏๆ•ฐ็จฎ้กžใŒๅŒบๅˆฅใ•ใ‚Œใ‚‹ใŒใ€็—…ๆ…‹็”Ÿ็†ๅญฆ็š„ใซ่‚บๅ‹•่„ˆใŒ่‚บๆฏ›็ดฐ่ก€็ฎกใ‚’็ตŒ้Žใ›ใšใซ่‚บ้™่„ˆใซๆŽฅ็ถšใ™ใ‚‹ๅ ดๅˆใ‚’่‚บๅ‹•้™่„ˆ็—ฎใจใ‚ˆใถใ€‚่งฃๅ‰–๏ผšๅคงใพใ‹ใซใฏ4็จฎ้กžใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚็ฌฌไธ€ใฎ่ก€็ฎก่…ซๅž‹ใฏๅคšๆ•ฐใฎ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใจ่‚บ้™่„ˆใŒใคใชใŒใ‚‹ใ€‚็ฌฌไบŒใฎๅ‹•่„ˆ็˜คๅž‹ใงใฏ็ƒๅž‹ใ€ใพใŸใฏๆ‹กๅผตใ—ใŸ็ฎก็Šถ่ก€็ฎกใ‚’้€šใ˜ใฆ่‚บๅ‹•่„ˆใŒ่‚บ้™่„ˆใซใคใชใŒใ‚‹ใ€‚็ฌฌไธ‰ใฎ่‚บๅ‹•่„ˆๅทฆๆˆฟไบค้€š็—‡ใงใฏๅณ่‚บๅ‹•่„ˆใฎๆžใŒ็›ดๆŽฅๅทฆๆˆฟใซใคใชใŒใ‚‹ใ€‚็ฌฌๅ››ใฎใณใพใ‚“ๆ€งใฎๅž‹ใงใฏใ€ๅ…จ่‚บ้‡Žใซใ‚ใŸใ‚Šใ€่‚บๅ‹•่„ˆๆŠนๆถˆใง็„กๆ•ฐใฎๆ‹กๅผตใ—ใŸๅฐ่ก€็ฎกใŒๅ‹•้™่„ˆ็˜ปใ‚’ๅฝขๆˆใ™ใ‚‹ๅž‹ใงใ‚ใ‚‹ใ€‚่ก€่กŒๅ‹•ๆ…‹๏ผš่‚บๅ‹•่„ˆใฎ้™่„ˆ่ก€ใŒ้…ธ็ด ๅŒ–ใ•ใ‚Œใšใซ่‚บ้™่„ˆใธๆตใ‚Œใ‚‹ใ€‚่‚บๅ‹•่„ˆๅœงใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ่‚บ้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคงๅ‹•่„ˆ่ก€ใฎ้…ธ็ด ้ฃฝๅ’Œๅบฆใฏๆง˜ใ€…ใช็จ‹ๅบฆใซไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใ€‚ๅฟƒๆ‹ๅ‡บ้‡ใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง่‚บๅˆ‡้™คใ™ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚Œใšใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใŒไธปใงใ‚ใ‚‹ใ€‚็˜ปใŒใณใพใ‚“ๆ€งใฎๆ™‚ใฏใ€ๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚‹ใ€‚ใ€€็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ใณใพใ‚“ๆ€งใงใชใ„ๆ™‚ใฏใ€ๆฒป็™‚ๅพŒใฏไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใฆๆฒป็™‚ๅ›ฐ้›ฃใชใจใใฏไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200295" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary arteriovenous fistulae"@en, "่‚บๅ‹•้™่„ˆ็˜ป"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Pulmonary arteriovenous fistulae"@en, "ใฏใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "่‚บๅ‹•้™่„ˆ็˜ป"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009930 ; skos:prefLabel "่‚บๅ‹•้™่„ˆ็˜ป"@ja . -:2200296 - :hasNotificationNumber "69" ; - terms:description "ๅณใพใŸใฏๅทฆใฎๅ† ็Šถๅ‹•่„ˆใŒ็˜ปใฎ่ก€็ฎกใ‚’ไป‹ใ—ใฆ็›ดๆŽฅๅฟƒใ€ใพใŸใฏๅคง่ก€็ฎก่…”ใซ้–‹ใ„ใฆใ„ใ‚‹ใ€‚็Ÿญ็ตกใŒๅคšใ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใซใฏไนณๅ…ๆœŸใซๅคšๅ‘ผๅธใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใชใฉใฎๅฟƒไธๅ…จใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตฝใŒๅฐ‘ใชใ„ๅ ดๅˆใซใฏๅฐๅ…ๆœŸใซใฏๅฟƒ่‡“ใฎ้›‘้Ÿณใ‚’ๅ‘ˆใ™ใ‚‹ใ ใ‘ใงใ€็‰นๅˆฅใฎ็—‡็Šถใฏใชใ„ใ€‚ๅฟƒๅ†…่†œ็‚Žไบˆ้˜ฒใ€ๅฟƒไธๅ…จใ€ๅฟƒ็ญ‹่™š่ก€ใ€็˜ปใฎ็ ด่ฃ‚ใƒชใ‚นใ‚ฏใŒๆฒป็™‚้ฉๅฟœใงใ‚ใ‚‹ใ€‚ๅฐใ•ใช็˜ป่ก€็ฎกใฎๆฒป็™‚้ฉๅฟœใฏใชใ„ใ€‚ๅนด้ฝขใจใจใ‚‚ใซ็˜ป่ก€็ฎกใฏๆ‹กๅคงใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใงใ€ใ‚ใ‚‹็จ‹ๅบฆไปฅไธŠใฎ็˜ป่ก€็ฎกใชใ‚‰ๆฒป็™‚้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใ™ใ‚‹ใ€‚่ก“ๅพŒใ€ๆŠ—่ก€ๅฐๆฟ่–ฌใ‚„ๆŠ—ๅ‡ๅ›บ่–ฌใŒๅฟ…่ฆใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ก“ๅพŒใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ๅ† ๅ‹•่„ˆใฎๆ‹กๅคงใŒ็„กใ„ใจใใฏใ€ไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใ‚‚ๅคงใใช็˜ป่ก€็ฎกใ‚„ๅ† ๅ‹•่„ˆใŒๆฎ‹ๅญ˜ใ™ใ‚‹ใจใใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200296" ; - terms:source ; + + nando:hasNotificationNumber "69" ; + dcterms:description "ๅณใพใŸใฏๅทฆใฎๅ† ็Šถๅ‹•่„ˆใŒ็˜ปใฎ่ก€็ฎกใ‚’ไป‹ใ—ใฆ็›ดๆŽฅๅฟƒใ€ใพใŸใฏๅคง่ก€็ฎก่…”ใซ้–‹ใ„ใฆใ„ใ‚‹ใ€‚็Ÿญ็ตกใŒๅคšใ่‚บ้ซ˜่ก€ๅœงใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใซใฏไนณๅ…ๆœŸใซๅคšๅ‘ผๅธใ€ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใชใฉใฎๅฟƒไธๅ…จใฎ็—‡็Šถใ‚’็”Ÿใ˜ใ‚‹ใ€‚็Ÿญ็ตฝใŒๅฐ‘ใชใ„ๅ ดๅˆใซใฏๅฐๅ…ๆœŸใซใฏๅฟƒ่‡“ใฎ้›‘้Ÿณใ‚’ๅ‘ˆใ™ใ‚‹ใ ใ‘ใงใ€็‰นๅˆฅใฎ็—‡็Šถใฏใชใ„ใ€‚ๅฟƒๅ†…่†œ็‚Žไบˆ้˜ฒใ€ๅฟƒไธๅ…จใ€ๅฟƒ็ญ‹่™š่ก€ใ€็˜ปใฎ็ ด่ฃ‚ใƒชใ‚นใ‚ฏใŒๆฒป็™‚้ฉๅฟœใงใ‚ใ‚‹ใ€‚ๅฐใ•ใช็˜ป่ก€็ฎกใฎๆฒป็™‚้ฉๅฟœใฏใชใ„ใ€‚ๅนด้ฝขใจใจใ‚‚ใซ็˜ป่ก€็ฎกใฏๆ‹กๅคงใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใงใ€ใ‚ใ‚‹็จ‹ๅบฆไปฅไธŠใฎ็˜ป่ก€็ฎกใชใ‚‰ๆฒป็™‚้ฉๅฟœใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใ™ใ‚‹ใ€‚่ก“ๅพŒใ€ๆŠ—่ก€ๅฐๆฟ่–ฌใ‚„ๆŠ—ๅ‡ๅ›บ่–ฌใŒๅฟ…่ฆใชใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ก“ๅพŒใ€ๅ† ๅ‹•่„ˆ่ก€ๆ “ใง็ช็„ถๆญปใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็˜ปใฎ่ก€็ฎกใŒๆฏ”่ผƒ็š„ๅฐใ•ใ„ใจใใ€ๅ† ๅ‹•่„ˆใฎๆ‹กๅคงใŒ็„กใ„ใจใใฏใ€ไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ๅพŒใ‚‚ๅคงใใช็˜ป่ก€็ฎกใ‚„ๅ† ๅ‹•่„ˆใŒๆฎ‹ๅญ˜ใ™ใ‚‹ใจใใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200296" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coronary artery fistula"@en, "ๅ† ๅ‹•่„ˆ็˜ป"@ja ; + rdfs:label "Coronary artery fistula"@en, "ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "ๅ† ๅ‹•่„ˆ็˜ป"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016081 ; skos:prefLabel "ๅ† ๅ‹•่„ˆ็˜ป"@ja . -:2200297 - :hasNotificationNumber "71" ; - terms:description "ๅ‹•่„ˆใจ้™่„ˆใŒๆฏ›็ดฐ่ก€็ฎกใ‚’้€šใ•ใš็•ฐๅธธ่ก€็ฎกใงไบค้€šใ—ใฆใ„ใ‚‹็—…ๆ…‹ใ€‚ ้ ญ่“‹ๅ†…ใ€่‚่‡“ใ€ๅ››่‚ขใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅ‹•่„ˆ่ก€ใŒ็›ดๆŽฅ้™่„ˆใซ้‚„ๆตใ™ใ‚‹ใŸใ‚ใ€ๅณๅฟƒ็ณปใซๅฎน้‡่ฒ ่ทใ‚’ใใŸใ—ๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใŒใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใชใ„ใ—ๅˆ‡้™คใ™ใ‚‹ใ€‚ไบˆๅพŒใฏ้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใŸใ‚Šใ€ๆฒป็™‚ๅ›ฐ้›ฃใช้ƒจไฝใซใ‚ใ‚‹ๆ™‚ใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200297" ; - terms:source ; + + nando:hasNotificationNumber "71" ; + dcterms:description "ๅ‹•่„ˆใจ้™่„ˆใŒๆฏ›็ดฐ่ก€็ฎกใ‚’้€šใ•ใš็•ฐๅธธ่ก€็ฎกใงไบค้€šใ—ใฆใ„ใ‚‹็—…ๆ…‹ใ€‚ ้ ญ่“‹ๅ†…ใ€่‚่‡“ใ€ๅ››่‚ขใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅ‹•่„ˆ่ก€ใŒ็›ดๆŽฅ้™่„ˆใซ้‚„ๆตใ™ใ‚‹ใŸใ‚ใ€ๅณๅฟƒ็ณปใซๅฎน้‡่ฒ ่ทใ‚’ใใŸใ—ๅฟƒไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใฏใ€้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใŒใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซใงๅกžๆ “่ก“ใ‹ใ€ๆ‰‹่ก“ใง็ต็ดฎใชใ„ใ—ๅˆ‡้™คใ™ใ‚‹ใ€‚ไบˆๅพŒใฏ้ƒจไฝใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚็˜ปใŒๅคšๆ•ฐใ‚ใฃใŸใ‚Šใ€ๆฒป็™‚ๅ›ฐ้›ฃใช้ƒจไฝใซใ‚ใ‚‹ๆ™‚ใฏใ€ไบˆๅพŒไธ่‰ฏใฎใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200297" ; + dcterms:source ; a owl:Class ; - rdfs:label "82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป"@ja, "Arteriovenous fistulae"@en ; + rdfs:label "82ใŠใ‚ˆใณ83ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†"@ja-Hira, "82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป"@ja, "Other arteriovenous fistulae"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "82ๅŠใณ83ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ‹•้™่„ˆ็˜ป"@ja . -:2200298 - :hasNotificationNumber "83" ; - terms:description "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœงใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆๅญฟ็ธฎใŒ็”Ÿใ˜ใ€ใใ“ใซ่ก€็ฎกๅฃใฎ่‚ฅๅŽšๆ€งๅค‰ๅŒ–ใ‚„่ก€็ฎก้š›ๆง‹็ฏ‰ใชใฉใฎๅŸบ่ณช็š„็—…ๅค‰ใŒๅŠ ใ‚ใ‚Šๆƒน่ตทใ•ใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‚บใฎ็ญ‹ๆ€งๅ‹•่„ˆใ‚„็ดฐๅ‹•่„ˆใฎไธญ่†œใ€ๅ†…่†œ่‚ฅๅŽšใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใฎ่ก€ๅœงใŒ้ซ˜ใพใ‚Šใ€ๅฟƒๆ‹ๅ‡บ้‡ไฝŽไธ‹ใ‚’็”Ÿใ˜ใ€ๅณๅฟƒไธๅ…จใ‚’ใฏใ˜ใ‚ๅฟƒ่‡“ใ‚„่‚บใฎๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ใ‚‚ใŸใ‚‰ใ™ใ€้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใ€‚ๅŽŸๅ› ใฏใ€BMPR2ใ€ALK1ใ€Endoglinใชใฉใฎ้บไผๅญ็•ฐๅธธใŒๅญ˜ๅœจใ™ใ‚‹ใ‚‚ใฎใจใ€ๆœชใ ้บไผๅญ็•ฐๅธธใŒใ‚ใใ‚‰ใ‹ใงใชใ„ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใงใ€้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ๆง˜ใ€…ใช่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใŒ้–‹็™บใ•ใ‚Œใ€่‡จๅบŠไฝฟ็”จใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใ‚Šใ€ไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใฆใ„ใ‚‹ใŒใ€ใใ‚Œใงใ‚‚ไพ็„ถไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใซใฏๅค‰ใ‚ใ‚Šใชใ„ใ€‚"@ja ; - terms:identifier "2200298" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:description "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœงใฎๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€้ซ˜ๅบฆใฎ่‚บๅ‹•่„ˆๅญฟ็ธฎใŒ็”Ÿใ˜ใ€ใใ“ใซ่ก€็ฎกๅฃใฎ่‚ฅๅŽšๆ€งๅค‰ๅŒ–ใ‚„่ก€็ฎก้š›ๆง‹็ฏ‰ใชใฉใฎๅŸบ่ณช็š„็—…ๅค‰ใŒๅŠ ใ‚ใ‚Šๆƒน่ตทใ•ใ‚Œใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่‚บใฎ็ญ‹ๆ€งๅ‹•่„ˆใ‚„็ดฐๅ‹•่„ˆใฎไธญ่†œใ€ๅ†…่†œ่‚ฅๅŽšใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใฎ่ก€ๅœงใŒ้ซ˜ใพใ‚Šใ€ๅฟƒๆ‹ๅ‡บ้‡ไฝŽไธ‹ใ‚’็”Ÿใ˜ใ€ๅณๅฟƒไธๅ…จใ‚’ใฏใ˜ใ‚ๅฟƒ่‡“ใ‚„่‚บใฎๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ใ‚‚ใŸใ‚‰ใ™ใ€้€ฒ่กŒๆ€งใฎ็–พๆ‚ฃใ€‚ๅŽŸๅ› ใฏใ€BMPR2ใ€ALK1ใ€Endoglinใชใฉใฎ้บไผๅญ็•ฐๅธธใŒๅญ˜ๅœจใ™ใ‚‹ใ‚‚ใฎใจใ€ๆœชใ ้บไผๅญ็•ฐๅธธใŒใ‚ใใ‚‰ใ‹ใงใชใ„ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ไบˆๅพŒไธ่‰ฏใงใ€้›ฃๆฒปๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ๆง˜ใ€…ใช่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใŒ้–‹็™บใ•ใ‚Œใ€่‡จๅบŠไฝฟ็”จใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใ‚Šใ€ไบˆๅพŒใฏๆ”นๅ–„ใ—ใฆใใฆใ„ใ‚‹ใŒใ€ใใ‚Œใงใ‚‚ไพ็„ถไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใซใฏๅค‰ใ‚ใ‚Šใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200298" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic pulmonary arterial hypertension"@en, "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017147 ; + rdfs:label "Pulmonary arterial hypertension"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015924 ; skos:prefLabel "่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja . -:2200299 - :hasNotificationNumber "94" ; - terms:description "่‚บใฎ็–พๆ‚ฃใฎๅญ˜ๅœจใซใ‚ˆใ‚‹่‚บๅพช็’ฐใฎ้šœๅฎณใซใ‚ˆใฃใฆ่‚บๅ‹•่„ˆๅœงใฎไธŠๆ˜‡ใ‚’ใใŸใ—ใ€ๅณๅฟƒไธๅ…จใซ้™ฅใ‚‹็—…ๆ…‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ…ขๆ€ง่‚บ็–พๆ‚ฃใ€้ซ˜ๅบฆใฎๆ‰ๆกƒ่‚ฅๅคงใซใ‚ˆใ‚‹ๆฐ—้“้–‰ๅกžใ€ๆ„ŸๆŸ“ๆ€ง่‚บ็–พๆ‚ฃใ€ๅ–˜ๆฏใชใฉใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใ€ไฝŽๅ‡บๅพไฝ“้‡ๅ…ใฎ้•ทๆœŸไบบๅทฅๅ‘ผๅธ็ฎก็†ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃbronchopulmonary dysplasiaใชใฉใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏ้–“่ณชๆ€ง่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ€้•ทๅนดใฎๅ–ซ็…™ใซใ‚ˆใ‚‹่‚บ้šœๅฎณใชใฉใŒๅŽŸๅ› ใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใซใฏๅพช็’ฐ้šœๅฎณใฎๅŽŸๅ› ใจใชใฃใฆใ„ใ‚‹่‚บใฎ็–พๆ‚ฃใฎๆฒป็™‚ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใซๅฏพใ—ใฆใฏใ€่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’็”จใ„ใ‚‹ใ€‚ๅณๅฟƒไธๅ…จใซๅฏพใ—ใฆใฏๆŠ—ๅฟƒไธๅ…จ็™‚ๆณ•ใ‚’ใŠใ“ใชใ†ใ€‚"@ja ; - terms:identifier "2200299" ; - terms:source ; + + nando:hasNotificationNumber "95" ; + dcterms:description "่‚บใฎ็–พๆ‚ฃใฎๅญ˜ๅœจใซใ‚ˆใ‚‹่‚บๅพช็’ฐใฎ้šœๅฎณใซใ‚ˆใฃใฆ่‚บๅ‹•่„ˆๅœงใฎไธŠๆ˜‡ใ‚’ใใŸใ—ใ€ๅณๅฟƒไธๅ…จใซ้™ฅใ‚‹็—…ๆ…‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใฎๆ…ขๆ€ง่‚บ็–พๆ‚ฃใ€้ซ˜ๅบฆใฎๆ‰ๆกƒ่‚ฅๅคงใซใ‚ˆใ‚‹ๆฐ—้“้–‰ๅกžใ€ๆ„ŸๆŸ“ๆ€ง่‚บ็–พๆ‚ฃใ€ๅ–˜ๆฏใชใฉใŒ้–ขไธŽใ™ใ‚‹ใ€‚ๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆใ€ไฝŽๅ‡บๅพไฝ“้‡ๅ…ใฎ้•ทๆœŸไบบๅทฅๅ‘ผๅธ็ฎก็†ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่‚บ็–พๆ‚ฃbronchopulmonary dysplasiaใชใฉใŒใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆˆไบบใงใฏ้–“่ณชๆ€ง่‚บ็‚Žใ€ๆฐ—็ฎกๆ”ฏๆ‹กๅผต็—‡ใ€้•ทๅนดใฎๅ–ซ็…™ใซใ‚ˆใ‚‹่‚บ้šœๅฎณใชใฉใŒๅŽŸๅ› ใซใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆฒป็™‚ใซใฏๅพช็’ฐ้šœๅฎณใฎๅŽŸๅ› ใจใชใฃใฆใ„ใ‚‹่‚บใฎ็–พๆ‚ฃใฎๆฒป็™‚ใ‚’่กŒใ†ใ€‚่‚บ้ซ˜่ก€ๅœงใซๅฏพใ—ใฆใฏใ€่‚บ่ก€็ฎกๆ‹กๅผต่–ฌใ‚’็”จใ„ใ‚‹ใ€‚ๅณๅฟƒไธๅ…จใซๅฏพใ—ใฆใฏๆŠ—ๅฟƒไธๅ…จ็™‚ๆณ•ใ‚’ใŠใ“ใชใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200299" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic cor pulmonale"@en, "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ"@ja ; + rdfs:label "Chronic cor pulmonale"@en, "ใพใ‚“ใ›ใ„ใฏใ„ใ›ใ„ใ—ใ‚“"@ja-Hira, "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001493 ; skos:prefLabel "ๆ…ขๆ€ง่‚บๆ€งๅฟƒ"@ja . -:2200300 - :hasNotificationNumber "37" ; - terms:description "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆใ€ๅฟƒๆˆฟใ‹ใ‚‰ๅณๅฟƒๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๆฏ”่ผƒ็š„็จ€ใชๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไธ‰ๅฐ–ๅผๅฐ–ใ€่…ฑ็ดขใ€ไนณ้ ญ็ญ‹ใŒไฝŽๅฝขๆˆใงใ€ๅผ่ผช็‹ญ็ช„ใ‚’ใจใ‚‚ใชใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ใฎ็จ‹ๅบฆใซๅฟœใ˜ใฆใ€ๆ‰‹่ก“้ฉๅฟœใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200300" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:description "ไธ‰ๅฐ–ๅผใฎ็‹ญ็ช„ใซใ‚ˆใฃใฆใ€ๅฟƒๆˆฟใ‹ใ‚‰ๅณๅฟƒๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๆฏ”่ผƒ็š„็จ€ใชๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไธ‰ๅฐ–ๅผๅฐ–ใ€่…ฑ็ดขใ€ไนณ้ ญ็ญ‹ใŒไฝŽๅฝขๆˆใงใ€ๅผ่ผช็‹ญ็ช„ใ‚’ใจใ‚‚ใชใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‹ญ็ช„ใฎ็จ‹ๅบฆใซๅฟœใ˜ใฆใ€ๆ‰‹่ก“้ฉๅฟœใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200300" ; + dcterms:source ; a owl:Class ; - rdfs:label "Tricuspid valve stenosis"@en, "ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Tricuspid valve stenosis"@en, "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005997 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005997 ; skos:prefLabel "ไธ‰ๅฐ–ๅผ็‹ญ็ช„็—‡"@ja . -:2200301 - :hasNotificationNumber "38" ; - terms:description "ไธ‰ๅฐ–ๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใฃใฆๅณๅฟƒๅฎคใ‹ใ‚‰ๅณๅฟƒๆˆฟใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผไป˜ๅฑžๅ™จ๏ผˆไนณ้ ญ็ญ‹ใ‚„่…ฑ็ดข๏ผ‰ใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้–‰้Ž–ไธๅ…จใŒ้ซ˜ๅบฆใ ใจใ€ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200301" ; - terms:source ; + + nando:hasNotificationNumber "38" ; + dcterms:description "ไธ‰ๅฐ–ๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใฃใฆๅณๅฟƒๅฎคใ‹ใ‚‰ๅณๅฟƒๆˆฟใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—…ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธ‰ๅฐ–ๅผไป˜ๅฑžๅ™จ๏ผˆไนณ้ ญ็ญ‹ใ‚„่…ฑ็ดข๏ผ‰ใฎ็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้–‰้Ž–ไธๅ…จใŒ้ซ˜ๅบฆใ ใจใ€ๅค–็ง‘ๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200301" ; + dcterms:source ; a owl:Class ; - rdfs:label "Tricuspid valve regurgitation"@en, "ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; + rdfs:label "Tricuspid valve regurgitation"@en, "ใ•ใ‚“ใ›ใ‚“ในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002870 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002870 ; skos:prefLabel "ไธ‰ๅฐ–ๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja . -:2200302 - :hasNotificationNumber "39" ; - terms:description "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใƒชใ‚ฆใƒžใƒๆ€งใ‚‚ใ‚ใ‚‹ใŒใ€ๅฐๅ…ใงใฏๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„ใฏๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200302" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "ๅƒงๅธฝๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๆˆฟใ‹ใ‚‰ๅทฆๅฎคใธใฎ่ก€ๆถฒๆตๅ…ฅใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ใƒชใ‚ฆใƒžใƒๆ€งใ‚‚ใ‚ใ‚‹ใŒใ€ๅฐๅ…ใงใฏๅ…ˆๅคฉ็š„ใชๆง‹้€ ็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅ…ˆๅคฉๆ€งๅƒงๅธฝๅผ็‹ญ็ช„ใฏๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ไบ‹ใ‚‚ใ‚ใ‚‹ใ—ใ€ไป–ใฎๅทฆๅฟƒ็ณป้–‰ๅกž็–พๆ‚ฃใจใฎๅˆไฝตไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใซใฏๆ—ฉๆœŸใ‹ใ‚‰ใฎๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใงใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ“ใจใŒๅฐ‘ใชใใชใ„ใ€‚ๆฒป็™‚ใฏใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ๆ‰‹่ก“ใ‚’ใŠใ“ใชใ†ใ€‚ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใฏๅ›ฐ้›ฃใชใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200302" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mitral valve stenosis"@en, "ๅƒงๅธฝๅผ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Mitral valve stenosis"@en, "ใใ†ใผใ†ในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅƒงๅธฝๅผ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005852 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005852 ; skos:prefLabel "ๅƒงๅธฝๅผ็‹ญ็ช„็—‡"@ja . -:2200303 - :hasNotificationNumber "40" ; - terms:description "ๅƒงๅธฝๅผใŠใ‚ˆใณๅผไป˜ๅฑžๅ™จใฎ็•ฐๅธธใซใ‚ˆใ‚ŠๅŽ็ธฎๆœŸใซๅทฆๅฎคใ‹ใ‚‰ๅทฆๆˆฟใธใฎ้€†ๆตใŒ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅƒงๅธฝๅผ้€ธ่„ฑ็—‡ๅ€™็พคใ€Marfan็—‡ๅ€™็พคใ€Ehlers-Danlos็—‡ๅ€™็พคใ€ๅทๅดŽ็—…ๅพŒๅ† ๅ‹•่„ˆ็˜คใ€ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใ€ไนณๅ…่…ฑ็ดขๆ–ญ่ฃ‚ใชใฉใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใซใฏๆฒป็™‚ใฏไธ่ฆใฎใ“ใจใŒๅคšใ„ใ€‚ไธญ็ญ‰็—‡ใซใฏๅ†…็ง‘ๆฒป็™‚ใ€้‡็—‡ไพ‹ใซใฏๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ไบˆๅพŒใฏใ€ๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200303" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "ๅƒงๅธฝๅผใŠใ‚ˆใณๅผไป˜ๅฑžๅ™จใฎ็•ฐๅธธใซใ‚ˆใ‚ŠๅŽ็ธฎๆœŸใซๅทฆๅฎคใ‹ใ‚‰ๅทฆๆˆฟใธใฎ้€†ๆตใŒ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅƒงๅธฝๅผ้€ธ่„ฑ็—‡ๅ€™็พคใ€Marfan็—‡ๅ€™็พคใ€Ehlers-Danlos็—‡ๅ€™็พคใ€ๅทๅดŽ็—…ๅพŒๅ† ๅ‹•่„ˆ็˜คใ€ๅทฆๅ† ๅ‹•่„ˆ่‚บๅ‹•่„ˆ่ตทๅง‹็—‡ใ€ๆ‹กๅผตๅž‹ๅฟƒ็ญ‹็—‡ใ€ไนณๅ…่…ฑ็ดขๆ–ญ่ฃ‚ใชใฉใซๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใซใฏๆฒป็™‚ใฏไธ่ฆใฎใ“ใจใŒๅคšใ„ใ€‚ไธญ็ญ‰็—‡ใซใฏๅ†…็ง‘ๆฒป็™‚ใ€้‡็—‡ไพ‹ใซใฏๅค–็ง‘ๆฒป็™‚ใ‚’่กŒใ†ใ€‚ไบˆๅพŒใฏใ€ๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200303" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mitral valve stenosis"@en, "ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; + rdfs:label "Mitral regurgitation"@en, "ใใ†ใผใ†ในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005852 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001298 ; skos:prefLabel "ๅƒงๅธฝๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja . -:2200304 - :hasNotificationNumber "43" ; - terms:description "่‚บๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅณๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ˜็‹ฌใฎใ‚‚ใฎใŠใ‚ˆใณFallotๅ››ๅพด็—‡ใชใฉไป–็–พๆ‚ฃใซๅˆไฝตใ—ใŸใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅฟƒใ‚จใ‚ณใƒผใ€ๅฟƒ่‡“ใ‚ซใƒ†ใƒผใƒ†ใƒซๆคœๆŸปใ‹ใ‚‰้‡็—‡ๅบฆใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚๏ผ‘๏ผ‰ ่ปฝ็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธ‹ใ€ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธ‹๏ผ’๏ผ‰ ไธญ็ญ‰็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธŠใ€ไฝ“่ก€ๅœงใพใง๏ผ“๏ผ‰ ้‡็—‡๏ผšไฝ“่ก€ๅœงไปฅไธŠใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใ€ๅ‹•่„ˆ็ฎกใซ่‚บๅพช็’ฐใŒไพๅญ˜ใ—ใฆใ„ใ‚‹ไพ‹ใฏใ€ใจใใซ้‡็—‡ใงใ‚ใ‚‹ใ€‚ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธŠใฎๅ ดๅˆใฏๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๆฒป็™‚ใฏใ€็ตŒ็šฎ็š„ใ‚ซใƒ†ใƒผใƒ†ใƒซ่‚บๅ‹•่„ˆๅผๆ‹กๅผต่ก“ใ‹ๆ‰‹่ก“ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚ŒใชใใชใฃใŸใ€‚ๆฒป็™‚ๅพŒใฎไบˆๅพŒใฏใ€ๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200304" ; - terms:source ; + + nando:hasNotificationNumber "43" ; + dcterms:description "่‚บๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅณๅฎคใ‹ใ‚‰่‚บๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅ˜็‹ฌใฎใ‚‚ใฎใŠใ‚ˆใณFallotๅ››ๅพด็—‡ใชใฉไป–็–พๆ‚ฃใซๅˆไฝตใ—ใŸใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅฟƒใ‚จใ‚ณใƒผใ€ๅฟƒ่‡“ใ‚ซใƒ†ใƒผใƒ†ใƒซๆคœๆŸปใ‹ใ‚‰้‡็—‡ๅบฆใ‚’ๆฑบๅฎšใ™ใ‚‹ใ€‚๏ผ‘๏ผ‰ ่ปฝ็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธ‹ใ€ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธ‹๏ผ’๏ผ‰ ไธญ็ญ‰็—‡๏ผšๅณๅฎคๅœง50mmHgไปฅไธŠใ€ไฝ“่ก€ๅœงใพใง๏ผ“๏ผ‰ ้‡็—‡๏ผšไฝ“่ก€ๅœงไปฅไธŠใ€‚ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ใงใ€ๅ‹•่„ˆ็ฎกใซ่‚บๅพช็’ฐใŒไพๅญ˜ใ—ใฆใ„ใ‚‹ไพ‹ใฏใ€ใจใใซ้‡็—‡ใงใ‚ใ‚‹ใ€‚ๅณๅฎคโ€”่‚บๅ‹•่„ˆ้–“ใฎๅœงๅทฎใŒ30-50mmHgไปฅไธŠใฎๅ ดๅˆใฏๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๆฒป็™‚ใฏใ€็ตŒ็šฎ็š„ใ‚ซใƒ†ใƒผใƒ†ใƒซ่‚บๅ‹•่„ˆๅผๆ‹กๅผต่ก“ใ‹ๆ‰‹่ก“ใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใฏใ€ๆ‰‹่ก“ใฏใปใจใ‚“ใฉ่กŒใ‚ใ‚ŒใชใใชใฃใŸใ€‚ๆฒป็™‚ๅพŒใฎไบˆๅพŒใฏใ€ๆฏ”่ผƒ็š„่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200304" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary valve stenosis"@en, "่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡"@ja ; + rdfs:label "Pulmonary valve stenosis"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006936 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006936 ; skos:prefLabel "่‚บๅ‹•่„ˆๅผ็‹ญ็ช„็—‡"@ja . -:2200305 - :hasNotificationNumber "44" ; - terms:description "่‚บๅ‹•่„ˆใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใ‹ใ‚‰ๅณๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไป–็–พๆ‚ฃใซๅˆไฝตใ€ใ‚ใ‚‹ใ„ใฏ่ก“ๅพŒใซ่ชใ‚ใ‚‹ใ“ใจใฏๅคšใ„ใŒใ€ๅ…ˆๅคฉ็š„ใชใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚้ซ˜ๅบฆไพ‹ใงใฏๆ‰‹่ก“็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200305" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:description "่‚บๅ‹•่„ˆใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Š่‚บๅ‹•่„ˆใ‹ใ‚‰ๅณๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ไป–็–พๆ‚ฃใซๅˆไฝตใ€ใ‚ใ‚‹ใ„ใฏ่ก“ๅพŒใซ่ชใ‚ใ‚‹ใ“ใจใฏๅคšใ„ใŒใ€ๅ…ˆๅคฉ็š„ใชใ‚‚ใฎใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚้ซ˜ๅบฆไพ‹ใงใฏๆ‰‹่ก“็š„ๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200305" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pulmonary valve regurgitation"@en, "่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; + rdfs:label "Pulmonary valve regurgitation"@en, "ใฏใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001927 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001927 ; skos:prefLabel "่‚บๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja . -:2200306 - :hasNotificationNumber "41" ; - terms:description "ๅคงๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใฎๆœ‰็—…็Ž‡ใฏ2-3%ใจใ‚‚่จ€ใ‚ใ‚Œใ€ๅคงๅ‹•่„ˆๅผใซ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ไบบๅฃใฏๅฐ‘ใชใใชใ„ใŒใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใฎใฏใใฎไธ€้ƒจใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใƒป่ƒŽๅ…ๆœŸใ‹ใ‚‰้‡็—‡ๅฟƒไธๅ…จ๏ผˆไฝŽๅฟƒๆ‹ๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใงใฏ็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€่ปฝใƒปไธญ็ญ‰็—‡ใซใŠใ„ใฆใ‚‚ๅŠ ้ฝขใจใจใ‚‚ใซ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใใ€้‹ๅ‹•ๆ™‚ๆฏๅˆ‡ใ‚Œใ€ๆ˜“็–ฒๅŠดๆ„Ÿใ‹ใ‚‰้‹ๅ‹•ๆ™‚่ƒธ็—›ใ€ๅคฑ็ฅžใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚Šๆ™‚ใซ็ช็„ถๆญปใ‚’่ตทใ“ใ™ใ€‚ไธญ็ญ‰็—‡ไปฅไธŠใซใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๅค–็ง‘็š„ๆฒป็™‚๏ผˆๅค–็ง‘็š„ไบค้€ฃๅˆ‡้–‹่ก“ใ‚ใ‚‹ใ„ใฏๅผ็ฝฎๆ›่ก“๏ผ‰ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200306" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "ๅคงๅ‹•่„ˆๅผใฎ็‹ญ็ช„ใซใ‚ˆใ‚Šๅทฆๅฎคใ‹ใ‚‰ๅคงๅ‹•่„ˆใธใฎ้ง†ๅ‡บใซๆ”ฏ้šœใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใฎๆœ‰็—…็Ž‡ใฏ2-3%ใจใ‚‚่จ€ใ‚ใ‚Œใ€ๅคงๅ‹•่„ˆๅผใซ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ไบบๅฃใฏๅฐ‘ใชใใชใ„ใŒใ€ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใฎใฏใใฎไธ€้ƒจใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏๆ–ฐ็”Ÿๅ…ๆœŸใƒป่ƒŽๅ…ๆœŸใ‹ใ‚‰้‡็—‡ๅฟƒไธๅ…จ๏ผˆไฝŽๅฟƒๆ‹ๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ปฝ็—‡ไพ‹ใงใฏ็„ก็—‡็Šถใงใ‚ใ‚‹ใŒใ€่ปฝใƒปไธญ็ญ‰็—‡ใซใŠใ„ใฆใ‚‚ๅŠ ้ฝขใจใจใ‚‚ใซ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใใ€้‹ๅ‹•ๆ™‚ๆฏๅˆ‡ใ‚Œใ€ๆ˜“็–ฒๅŠดๆ„Ÿใ‹ใ‚‰้‹ๅ‹•ๆ™‚่ƒธ็—›ใ€ๅคฑ็ฅžใ‚’่ชใ‚ใ‚‹ใ“ใจใŒใ‚ใ‚Šๆ™‚ใซ็ช็„ถๆญปใ‚’่ตทใ“ใ™ใ€‚ไธญ็ญ‰็—‡ไปฅไธŠใซใ€ใ‚ซใƒ†ใƒผใƒ†ใƒซๆฒป็™‚ใ‹ใ€ๅค–็ง‘็š„ๆฒป็™‚๏ผˆๅค–็ง‘็š„ไบค้€ฃๅˆ‡้–‹่ก“ใ‚ใ‚‹ใ„ใฏๅผ็ฝฎๆ›่ก“๏ผ‰ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200306" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aortic valve stenosis"@en, "ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004978, mondo:MONDO_0013902, mondo:MONDO_0042981 ; + rdfs:label "Aortic valve stenosis"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0042981 ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผ็‹ญ็ช„็—‡"@ja . -:2200307 - :hasNotificationNumber "42" ; - terms:description "ๅคงๅ‹•่„ˆๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šๅคงๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใงใฏๅŠ ้ฝขใจใจใ‚‚ใซใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™็Ž‡ใŒไธŠใŒใฃใฆใใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ๏ผˆไพ‹ใˆใฐใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅคง่ก€็ฎก่ปขๆ›็—‡Jatene่ก“ๅพŒใชใฉ๏ผ‰ใ‚„็ตๅˆ็น”็—…๏ผˆMarfan็—‡ๅ€™็พคใชใฉ๏ผ‰ใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคๅฎน้‡่ฒ ่ทไพ‹ใงใฏใ€้€†ๆตใฎ้€ฒ่กŒใ‚’้˜ฒใ็›ฎ็š„ใง่ก€็ฎกๆ‹กๅผต่–ฌใŒๆŠ•ไธŽใ•ใ‚Œใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจใ€ไธ€่ˆฌ็š„ใซใฏๅคงๅ‹•่„ˆๅผ็ฝฎๆ›่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆๆ‹กๅคงใฎๅผทใ„ๅ ดๅˆใซใฏไธŠ่กŒๅคงๅ‹•่„ˆๅŸบ้ƒจ็ฝฎๆ›่ก“(Bentallๆ‰‹่ก“)ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200307" ; - terms:source ; + + nando:hasNotificationNumber "42" ; + dcterms:description "ๅคงๅ‹•่„ˆๅผใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šๅคงๅ‹•่„ˆใ‹ใ‚‰ๅทฆๅฎคใธ่ก€ๆถฒใŒ้€†ๆตใ™ใ‚‹ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€‚ๅคงๅ‹•่„ˆไบŒๅฐ–ๅผใงใฏๅŠ ้ฝขใจใจใ‚‚ใซใ€ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จใ‚’ใใŸใ™็Ž‡ใŒไธŠใŒใฃใฆใใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃ๏ผˆไพ‹ใˆใฐใ€ใƒ•ใ‚กใƒญใƒผๅ››ๅพด็—‡ใ€ๅคง่ก€็ฎก่ปขๆ›็—‡Jatene่ก“ๅพŒใชใฉ๏ผ‰ใ‚„็ตๅˆ็น”็—…๏ผˆMarfan็—‡ๅ€™็พคใชใฉ๏ผ‰ใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅทฆๅฎคๅฎน้‡่ฒ ่ทไพ‹ใงใฏใ€้€†ๆตใฎ้€ฒ่กŒใ‚’้˜ฒใ็›ฎ็š„ใง่ก€็ฎกๆ‹กๅผต่–ฌใŒๆŠ•ไธŽใ•ใ‚Œใ‚‹ใ€‚้€ฒ่กŒใ™ใ‚‹ใจใ€ไธ€่ˆฌ็š„ใซใฏๅคงๅ‹•่„ˆๅผ็ฝฎๆ›่ก“ใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚ไธŠ่กŒๅคงๅ‹•่„ˆๆ‹กๅคงใฎๅผทใ„ๅ ดๅˆใซใฏไธŠ่กŒๅคงๅ‹•่„ˆๅŸบ้ƒจ็ฝฎๆ›่ก“(Bentallๆ‰‹่ก“)ใฎ้ฉๅฟœใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200307" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aortic valve regurgitation"@en, "ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; + rdfs:label "Aortic valve regurgitation"@en, "ใ ใ„ใฉใ†ใฟใ‚ƒใในใ‚“ใธใ„ใ•ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005648 ; skos:prefLabel "ๅคงๅ‹•่„ˆๅผ้–‰้Ž–ไธๅ…จ็—‡"@ja . -:2200308 - :hasNotificationNumber "55" ; - terms:description "ๅƒงๅธฝๅผ่ผช็›ดไธŠใฎๅฟƒๆˆฟๅดใซ่ตทๅง‹ใ™ใ‚‹่†œ็”จใฎ้š†่ตท็‰ฉใŒๅ…จๅ‘จๆ€งใซๅƒงๅธฝๅผใ‚’่ฆ†ใ„ใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็‹ญ็ช„็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ่†œๆง˜็‰ฉใฏๅทฆๅฟƒ่€ณใ‚ˆใ‚Šใ‚‚ๅƒงๅธฝๅผๅดใซใ‚ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉใฎไป–ใฎๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆœ‰ๆ„ใช็‹ญ็ช„ใงใ€่‚บใ†ใฃ่ก€ใ‚„่‚บ้ซ˜่ก€ๅœงใ‚’ใใŸใ™ไพ‹ใงใฏใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200308" ; - terms:source ; + + nando:hasNotificationNumber "55" ; + dcterms:description "ๅƒงๅธฝๅผ่ผช็›ดไธŠใฎๅฟƒๆˆฟๅดใซ่ตทๅง‹ใ™ใ‚‹่†œ็”จใฎ้š†่ตท็‰ฉใŒๅ…จๅ‘จๆ€งใซๅƒงๅธฝๅผใ‚’่ฆ†ใ„ใ€ๆง˜ใ€…ใช็จ‹ๅบฆใฎ็‹ญ็ช„็—‡็Šถใ‚’ๅผ•ใ่ตทใ“ใ™ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ่†œๆง˜็‰ฉใฏๅทฆๅฟƒ่€ณใ‚ˆใ‚Šใ‚‚ๅƒงๅธฝๅผๅดใซใ‚ใ‚‹ใ€‚ๅ˜็‹ฌใง็™บ็—‡ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€ๅคงๅ‹•่„ˆ็ธฎ็ช„ใชใฉใฎไป–ใฎๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใซๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆœ‰ๆ„ใช็‹ญ็ช„ใงใ€่‚บใ†ใฃ่ก€ใ‚„่‚บ้ซ˜่ก€ๅœงใ‚’ใใŸใ™ไพ‹ใงใฏใ€ๆฒป็™‚ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200308" ; + dcterms:source ; a owl:Class ; - rdfs:label "Supramitral ring"@en, "ๅƒงๅธฝๅผๅผไธŠ่ผช"@ja ; + rdfs:label "Supramitral ring"@en, "ใใ†ใผใ†ในใ‚“ในใ‚“ใ˜ใ‚‡ใ†ใ‚Šใ‚“"@ja-Hira, "ๅƒงๅธฝๅผๅผไธŠ่ผช"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020400 ; skos:prefLabel "ๅƒงๅธฝๅผๅผไธŠ่ผช"@ja . -:2200309 - :hasNotificationNumber "75" ; - terms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200309" ; - terms:source ; + + nando:hasNotificationNumber "75" ; + dcterms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅณๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๆฌ ๆใ—ใฆใ„ใ‚‹ใ€‚50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅ˜ๅฟƒๆˆฟใ€ๅ…ฑ้€šๆˆฟๅฎคๅผใ€ๅ˜ๅฟƒๅฎคใ€็ท่‚บ้™่„ˆ้‚„ๆต็•ฐๅธธใ€่‚บๅ‹•่„ˆ้–‰้Ž–๏ผˆ็‹ญ็ช„๏ผ‰ใชใฉใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200309" ; + dcterms:source ; a owl:Class ; - rdfs:label "Asplenia syndrome"@en, "็„ก่„พ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008832 ; + rdfs:label "Asplenia syndrome"@en, "ใ‚€ใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็„ก่„พ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "็„ก่„พ็—‡ๅ€™็พค"@ja . -:2200310 - :hasNotificationNumber "74" ; - terms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200310" ; - terms:source ; + + nando:hasNotificationNumber "74" ; + dcterms:description "ๅ†…่‡“ใŒๅทฆๅณๅฏพ็งฐๆ€งใซๅฝขๆˆใ•ใ‚Œใ‚‹่‡“ๅ™จ้Œฏไฝ็—‡ๅ€™็พคใฎใ†ใกๅทฆๅด็›ธๅŒใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ€‚้€šๅธธ่„พ่‡“ใฏๅˆ†่‘‰ใ—ใฆ่ค‡ๆ•ฐ่ชใ‚ใ€50-90%ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ๅˆไฝตๅฟƒๅฅ‡ๅฝขใฏใ€ๅฅ‡้™่„ˆ็ตๅˆใ€ไธ‹ๅคง้™่„ˆๆฌ ๆใ€ๅฟƒๆˆฟไธญ้š”ๆฌ ๆใ€ไธกๅคง่ก€็ฎกๅณๅฎค่ตทๅง‹็—‡ใชใฉใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200310" ; + dcterms:source ; a owl:Class ; - rdfs:label "Polysplenia syndrome"@en, "ๅคš่„พ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008832 ; + rdfs:label "Polysplenia syndrome"@en, "ใŸใฒใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคš่„พ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "ๅคš่„พ็—‡ๅ€™็พค"@ja . -:2200311 - :hasNotificationNumber "90" ; - terms:description "2ๅฟƒๅฎคไฟฎๅพฉใŒไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€ๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹็–พๆ‚ฃใซๅฏพใ—ใฆใ€Fontanๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Fontanๆ‰‹่ก“ใซใฏใ€ๅฟƒๆˆฟใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใ‚„ใ€ไธŠๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ€ไธ‹ๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใชใฉใŒใ‚ใ‚‹ใ€‚Fontan่ก“ๅพŒใ€ไธปใซ้ ้š”ๆœŸใซใ€ไธๆ•ด่„ˆใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€่ก€ๆ “ๅกžๆ “็—‡ใ€่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ€ๅฟƒไธๅ…จใ€่‚บ้ซ˜่ก€ๅœงใ€่‚็กฌๅค‰ใ€่‚ใŒใ‚“ใ€่…Žไธๅ…จใชใฉๅ…จ่บซใฎ่‡“ๅ™จไธๅ…จใ‚’ใใŸใ™็—‡ๅ€™็พคใ€‚ๆ นๆœฌๆฒป็™‚ใŒ็„กใ„ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200311" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:description "2ๅฟƒๅฎคไฟฎๅพฉใŒไธๅฏ่ƒฝใงใ‚ใ‚‹ใ€ๅ˜ๅฟƒๅฎค่ก€่กŒๅ‹•ๆ…‹็–พๆ‚ฃใซๅฏพใ—ใฆใ€Fontanๆ‰‹่ก“ใŒๆ–ฝ่กŒใ•ใ‚Œใ‚‹ใ€‚Fontanๆ‰‹่ก“ใซใฏใ€ๅฟƒๆˆฟใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใ‚„ใ€ไธŠๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ€ไธ‹ๅคง้™่„ˆใจ่‚บๅ‹•่„ˆใ‚’ๅปๅˆใ™ใ‚‹ๆ–นๆณ•ใชใฉใŒใ‚ใ‚‹ใ€‚Fontan่ก“ๅพŒใ€ไธปใซ้ ้š”ๆœŸใซใ€ไธๆ•ด่„ˆใ€ใƒใ‚ขใƒŽใƒผใ‚ผใ€่ก€ๆ “ๅกžๆ “็—‡ใ€่›‹็™ฝๆผๅ‡บๆ€ง่ƒƒ่…ธ็—‡ใ€ๅฟƒไธๅ…จใ€่‚บ้ซ˜่ก€ๅœงใ€่‚็กฌๅค‰ใ€่‚ใŒใ‚“ใ€่…Žไธๅ…จใชใฉๅ…จ่บซใฎ่‡“ๅ™จไธๅ…จใ‚’ใใŸใ™็—‡ๅ€™็พคใ€‚ๆ นๆœฌๆฒป็™‚ใŒ็„กใ„ไบˆๅพŒไธ่‰ฏใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200311" ; + dcterms:source ; a owl:Class ; - rdfs:label "Post-Fontan syndrome"@en, "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค"@ja ; + rdfs:label "Post-Fontan syndrome"@en, "ใตใ‰ใ‚“ใŸใ‚“ใ˜ใ‚…ใคใ”ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Fontan่ก“ๅพŒ็—‡ๅ€™็พค"@ja ; skos:prefLabel "ใƒ•ใ‚ฉใƒณใ‚ฟใƒณ่ก“ๅพŒ็—‡ๅ€™็พค"@ja . -:2200312 - :hasNotificationNumber "5" ; - terms:description "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200312" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200312" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital hypopituitarism"@en, "ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:label "Congenital hypopituitarism"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018762 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018762 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200313 - :hasNotificationNumber "4" ; - terms:description "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200313" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅŽŸๅ› ใจใชใ‚‹็–พๆ‚ฃใฏๅคšๅฒใซใ‚ใŸใ‚‹ใ€‚้šœๅฎณใ•ใ‚Œใ‚‹ใƒ›ใƒซใƒขใƒณใŒ๏ผ‘ใคใฎๅ ดๅˆใฏๅ˜็‹ฌไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณๆฌ ๆใจๅ‘ผใณใ€่ค‡ๆ•ฐใฎใƒ›ใƒซใƒขใƒณใŒๅˆ†ๆณŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ๅ ดๅˆใฏ่ค‡ๅˆๅž‹ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ๆœฌ็จฟใงใฏใ“ใกใ‚‰ใซใคใ„ใฆ่จ˜่ผ‰ใ™ใ‚‹ใ€‚ใ“ใ‚Œใฏๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจๅพŒๅคฉๆ€งใฎ็—…ๅ› ใจใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200313" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acquired hypopituitarism"@en, "ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:label "Acquired hypopituitarism"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใ‹ใ™ใ„ใŸใ„ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019832 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019832 ; skos:prefLabel "ๅพŒๅคฉๆ€งไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200314 - :hasNotificationNumber "6" ; - terms:description "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใฏ๏ผŒ้ชจ็ซฏ่ปŸ้ชจ็ทšใŒ้–‰้Ž–ใ™ใ‚‹ๅ‰ใซ็™บ็—‡ใ—ใ€ไธปใซไธ‹ๅž‚ไฝ“ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)็”ฃ็”Ÿ่…บ่…ซใซใ‚ˆใ‚‹้ซ˜่บซ้•ท็—‡ใงใ‚ใ‚‹๏ผŽ้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซ็™บ็—‡ใ—ใŸๅ ดๅˆใซใฏ๏ผŒๅ…ˆ็ซฏๅทจๅคง็—‡ใจใชใ‚‹๏ผŽๅ…ˆ็ซฏๅทจๅคง็—‡ใจใฎ้•ใ„ใฏ๏ผŒๅฐๅ…ๆœŸใซใŠใ„ใฆใฏๅ‰ฏ็—‡ๅ€™ใŒ่‘—ๆ˜Žใงใฏใชใ๏ผŒ่บซ้•ท็™บ่‚ฒใŒ็ฎธๆ˜Žใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹๏ผŽ"@ja ; - terms:identifier "2200314" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใฏ๏ผŒ้ชจ็ซฏ่ปŸ้ชจ็ทšใŒ้–‰้Ž–ใ™ใ‚‹ๅ‰ใซ็™บ็—‡ใ—ใ€ไธปใซไธ‹ๅž‚ไฝ“ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)็”ฃ็”Ÿ่…บ่…ซใซใ‚ˆใ‚‹้ซ˜่บซ้•ท็—‡ใงใ‚ใ‚‹๏ผŽ้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซ็™บ็—‡ใ—ใŸๅ ดๅˆใซใฏ๏ผŒๅ…ˆ็ซฏๅทจๅคง็—‡ใจใชใ‚‹๏ผŽๅ…ˆ็ซฏๅทจๅคง็—‡ใจใฎ้•ใ„ใฏ๏ผŒๅฐๅ…ๆœŸใซใŠใ„ใฆใฏๅ‰ฏ็—‡ๅ€™ใŒ่‘—ๆ˜Žใงใฏใชใ๏ผŒ่บซ้•ท็™บ่‚ฒใŒ็ฎธๆ˜Žใซ่ชใ‚ใ‚‰ใ‚Œใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200314" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pituitary gigantism"@en, "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡"@ja ; + rdfs:label "Pituitary gigantism"@en, "ใ‹ใ™ใ„ใŸใ„ใ›ใ„ใใ‚‡ใ˜ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020479 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020479 ; skos:prefLabel "ไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡"@ja . -:2200315 - :hasNotificationNumber "55" ; - terms:description "ๅ…ˆ็ซฏๅทจๅคง็—‡(acromegaly)ใฏใ€้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ใŒ้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽๆ‰‹่ถณๆœซ็ซฏใฎ่‚ฅๅคงใ‚„้ก”่ฒŒใฎๅค‰ๅŒ–ใซๅŠ ใˆใฆ๏ผŒ็ณ–ๅฐฟ็—…ใชใฉใฎไปฃ่ฌ็•ฐๅธธ๏ผŒๅฟƒ่‚ฅๅคงใ‚„ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใชใฉใฎๅพช็’ฐๅ™จใ‚„ๅ‘ผๅธๅ™จๅˆไฝต็—‡๏ผŒๆ›ดใซ่…ซ็˜ใฎ็™บ่‚ฒใ‚’ไฟƒ้€ฒใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ ๆณจ๏ผš้ชจ็ซฏ็ทš้–‰้Ž–ๅ‰ใซGHใฎ้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใšใ‚‹ใจ้ซ˜่บซ้•ทใจใชใ‚Š๏ผŒไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200315" ; - terms:source ; + + nando:hasNotificationNumber "55" ; + dcterms:description "ๅ…ˆ็ซฏๅทจๅคง็—‡(acromegaly)ใฏใ€้ชจ็ซฏ็ทš้–‰้Ž–ๅพŒใซไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ใŒ้•ทๆœŸ้–“ใซใ‚ใŸใ‚Š้Žๅ‰ฐใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใฃใฆ็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽๆ‰‹่ถณๆœซ็ซฏใฎ่‚ฅๅคงใ‚„้ก”่ฒŒใฎๅค‰ๅŒ–ใซๅŠ ใˆใฆ๏ผŒ็ณ–ๅฐฟ็—…ใชใฉใฎไปฃ่ฌ็•ฐๅธธ๏ผŒๅฟƒ่‚ฅๅคงใ‚„ๆ…ขๆ€งๅ‘ผๅธไธๅ…จใชใฉใฎๅพช็’ฐๅ™จใ‚„ๅ‘ผๅธๅ™จๅˆไฝต็—‡๏ผŒๆ›ดใซ่…ซ็˜ใฎ็™บ่‚ฒใ‚’ไฟƒ้€ฒใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ ๆณจ๏ผš้ชจ็ซฏ็ทš้–‰้Ž–ๅ‰ใซGHใฎ้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใšใ‚‹ใจ้ซ˜่บซ้•ทใจใชใ‚Š๏ผŒไธ‹ๅž‚ไฝ“ๆ€งๅทจไบบ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200315" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acromegaly"@en, "ๅ…ˆ็ซฏๅทจๅคง็—‡"@ja ; + rdfs:label "Acromegaly"@en, "ใ›ใ‚“ใŸใ‚“ใใ‚‡ใ ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆ็ซฏๅทจๅคง็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019933 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019933 ; skos:prefLabel "ๅ…ˆ็ซฏๅทจๅคง็—‡"@ja . -:2200316 - :hasNotificationNumber "45" ; - terms:description "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ ญ่“‹็…งๅฐ„ใฎๆ—ขๅพ€๏ผŒ้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œ้ ญ้ƒจMRIๆคœๆŸปใงไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งGHDใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใ๏ผ‰ใง่ฟฐในใ‚‹ใ€‚"@ja ; - terms:identifier "2200316" ; - terms:source ; + + nando:hasNotificationNumber "45" ; + dcterms:description "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ ญ่“‹็…งๅฐ„ใฎๆ—ขๅพ€๏ผŒ้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œ้ ญ้ƒจMRIๆคœๆŸปใงไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚็‰น็™บๆ€งGHDใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใ๏ผ‰ใง่ฟฐในใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200316" ; + dcterms:source ; a owl:Class ; - rdfs:label "Growth hormone deficiency"@en, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; + rdfs:label "Growth hormone deficiency caused by cerebral organic disorders"@en, "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฎใ†ใฎใใ—ใคใฆใใ’ใ‚“ใ„ใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใซใŒใŽใ‚‹ใ€‚๏ผ‰"@ja-Hira, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; - skos:prefLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja . + rdfs:subClassOf ; + skos:altLabel "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja ; + skos:prefLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใซ้™ใ‚‹ใ€‚๏ผ‰"@ja . -:2200317 - :hasNotificationNumber "45" ; - terms:identifier "2200317" ; - terms:source ; + + nando:hasNotificationNumber "45" ; + dcterms:identifier "NANDO:2200317" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital growth hormone deficiency"@en, "ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; + rdfs:label "Congenital growth hormone deficiency"@en, "ใใ—ใคใฆใใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ๅ™จ่ณช็š„GHD"@ja ; + rdfs:subClassOf ; + skos:altLabel "ๅ™จ่ณชๆ€งGHD"@ja, "ๅ™จ่ณช็š„GHD"@ja ; + skos:closeMatch obo:MONDO_0000050 ; skos:prefLabel "ๅ™จ่ณช็š„ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja . -:2200318 - :hasNotificationNumber "46" ; - terms:description "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ€้ ญ้ƒจMRIๆคœๆŸปใง๏ผŒไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹๏ผ‰ใซๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200318" ; - terms:source ; + + nando:hasNotificationNumber "46" ; + dcterms:description "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡(GHD)ใฏGHๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚‹ไฝŽ่บซ้•ท็—‡ใง๏ผŒใใฎไป–ใฎไธ‹ๅž‚ไฝ“ใƒ›ใƒซใƒขใƒณ๏ผปTSHใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ(LH,FSH)ใ€ACTHใ‚ใ‚‹ใ„ใฏADH๏ผฝใฎๅˆ†ๆณŒไธๅ…จใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผˆไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผ‰ใ€‚ๆณจ๏ผšGHDใฎๅŽŸๅ› ใจใ—ใฆใฏ๏ผŒๅ™จ่ณช็š„ใชใ‚‚ใฎใจ็‰น็™บๆ€งใฎใ‚‚ใฎใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ™จ่ณชๆ€งGHDใซใฏ้ ญ่“‹ๅ’ฝ้ ญ่…ซ๏ผŒ่ƒš่Šฝ่…ซใชใฉ่„ณใฎๅ™จ่ณช็•ฐๅธธใ€้ชจ็›คไฝๅˆ†ๅจฉใƒปไปฎๆญปใƒป้ป„็–ธ้ทๅปถใชใฉใฎๅ‘จ็”ฃๆœŸ็•ฐๅธธใซใ‚ˆใฃใฆๅผ•ใ่ตทใ“ใ•ใ‚Œใ€้ ญ้ƒจMRIๆคœๆŸปใง๏ผŒไธ‹ๅž‚ไฝ“่ŒŽ้›ขๆ–ญใ€็•ฐๆ‰€ๆ€งๅพŒ่‘‰ใ‚ใ‚‹ใ„ใฏไธ‹ๅž‚ไฝ“ไฝŽๅฝขๆˆใ‚’ใฟใจใ‚ใ‚‹ๅ ดๅˆใŒๅซใพใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฏๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹๏ผ‰ใซๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200318" ; + dcterms:source ; a owl:Class ; - rdfs:label "Growth hormone deficiency"@en, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; + rdfs:label "Growth hormone deficiency not caused by cerebral organic disorders"@en, "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†๏ผˆใฎใ†ใฎใใ—ใคใฆใใ’ใ‚“ใ„ใ‚“ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ใฎใžใใ€‚๏ผ‰"@ja-Hira, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; - skos:prefLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja . + rdfs:subClassOf ; + skos:altLabel "GHๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja ; + skos:prefLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡๏ผˆ่„ณใฎๅ™จ่ณช็š„ๅŽŸๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คใใ€‚๏ผ‰"@ja . -:2200319 - :hasNotificationNumber "46" ; - terms:identifier "2200319" ; - terms:source ; + + nando:hasNotificationNumber "46" ; + dcterms:identifier "NANDO:2200319" ; + dcterms:source ; a owl:Class ; - rdfs:label "Idiopathic growth hormone deficiency"@en, "็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; + rdfs:label "Idiopathic growth hormone deficiency"@en, "ใจใใฏใคใ›ใ„ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใตใœใ‚“ใ›ใ„ใฆใ„ใ—ใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "็‰น็™บๆ€งGHD"@ja ; skos:prefLabel "็‰น็™บๆ€งๆˆ้•ทใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไธๅ…จๆ€งไฝŽ่บซ้•ท็—‡"@ja . -:2200320 - :hasNotificationNumber "43" ; - terms:description "ๆˆ้•ทใƒ›ใƒซใƒขใƒณ๏ผˆGH๏ผ‰ใฎไฝœ็”จใ‚’ไปฒไป‹ใ™ใ‚‹ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1(IGF1)๏ผˆๅพ“ๆฅใฏใ‚ฝใƒžใƒˆใƒกใ‚ธใƒณC๏ผ‰ใฎๅ—ๅฎนไฝ“ใ‚ใ‚‹ใ„ใฏใใ‚Œไปฅ้™ใฎ้šœๅฎณใซใ‚ˆใ‚Šใ€่ƒŽๅ†…็™บ่‚ฒ้…ๅปถใจไฝŽ่บซ้•ทใ‚’ใใŸใ™็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200320" ; - terms:source ; - a owl:Class ; - rdfs:label "IGF1 insensitivity"@en, "ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "IGF๏ผ1ไธๅฟœ็—‡"@ja ; + + nando:hasNotificationNumber "43" ; + dcterms:description "ๆˆ้•ทใƒ›ใƒซใƒขใƒณ๏ผˆGH๏ผ‰ใฎไฝœ็”จใ‚’ไปฒไป‹ใ™ใ‚‹ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1(IGF1)๏ผˆๅพ“ๆฅใฏใ‚ฝใƒžใƒˆใƒกใ‚ธใƒณC๏ผ‰ใฎๅ—ๅฎนไฝ“ใ‚ใ‚‹ใ„ใฏใใ‚Œไปฅ้™ใฎ้šœๅฎณใซใ‚ˆใ‚Šใ€่ƒŽๅ†…็™บ่‚ฒ้…ๅปถใจไฝŽ่บซ้•ทใ‚’ใใŸใ™็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200320" ; + dcterms:source ; + a owl:Class ; + rdfs:label "IGF1 insensitivity"@en, "ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‚ˆใ†ใ›ใ„ใกใ‚‡ใ†ใ„ใ‚“ใ—1ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "IGF-1ไธๅฟœ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010038 ; skos:prefLabel "ใ‚คใƒณใ‚นใƒชใƒณๆง˜ๆˆ้•ทๅ› ๅญ1ไธๅฟœ็—‡"@ja . -:2200321 - :hasNotificationNumber "44" ; - terms:description "็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™ใ€ใ‚ใ‚‹ใ„ใฏGHๆŠตๆŠ—ๆ€งใ‚’็คบใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚GHๅ—ๅฎนไฝ“ใŠใ‚ˆใณใใ‚Œไปฅ้™ใฎ็ดฐ่ƒžๅ†…ๆƒ…ๅ ฑไผ้”ๅˆ†ๅญใฎ็•ฐๅธธใŠใ‚ˆใณๅ…ˆๅคฉๆ€งIGF-I็”ฃ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใณ๏ผŒ GHใŠใ‚ˆใณGHๅ—ๅฎนไฝ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผŒๆ „้คŠไธ่‰ฏ๏ผŒ่‚็–พๆ‚ฃ๏ผŒ็ณ–ๅฐฟ็—…ใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซGHๆŠตๆŠ—ๆ€งใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆไบŒๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚1966ๅนดใซLaronใซใ‚ˆใฃใฆ๏ผŒไฝŽ่บซ้•ท๏ผŒ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚1989ๅนดใ€ๆœฌ็–พๆ‚ฃใฏGHๅ—ๅฎนไฝ“้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใใ‚‰ใ‹ใจใชใฃใŸใ€‚GHใ‚ทใ‚ฐใƒŠใƒซใŒๅๅˆ†ใซไผ้”ใ•ใ‚Œใชใ„ใŸใ‚ใ€GHๅˆ†ๆณŒไธๅ…จใจๅŒๆง˜ใฎ็‰นๅพดใ‚ใ‚‹็—‡็Šถ๏ผŒๆ‰€่ฆ‹ใ‚’็คบใ™ใ€‚Laronๅž‹ไฝŽ่บซ้•ท็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200321" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:description "็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™ใ€ใ‚ใ‚‹ใ„ใฏGHๆŠตๆŠ—ๆ€งใ‚’็คบใ™็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚GHๅ—ๅฎนไฝ“ใŠใ‚ˆใณใใ‚Œไปฅ้™ใฎ็ดฐ่ƒžๅ†…ๆƒ…ๅ ฑไผ้”ๅˆ†ๅญใฎ็•ฐๅธธใŠใ‚ˆใณๅ…ˆๅคฉๆ€งIGF-I็”ฃ็”Ÿ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใณ๏ผŒ GHใŠใ‚ˆใณGHๅ—ๅฎนไฝ“ใซๅฏพใ™ใ‚‹ๆŠ—ไฝ“๏ผŒๆ „้คŠไธ่‰ฏ๏ผŒ่‚็–พๆ‚ฃ๏ผŒ็ณ–ๅฐฟ็—…ใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซGHๆŠตๆŠ—ๆ€งใŒ็”Ÿใ˜ใ‚‹ๅ ดๅˆไบŒๆฌกๆ€งGHไธๅฟœ็—‡ๅ€™็พคใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚1966ๅนดใซLaronใซใ‚ˆใฃใฆ๏ผŒไฝŽ่บซ้•ท๏ผŒ็‰น็•ฐ็š„ใช้ก”่ฒŒ๏ผŒ่‚ฅๆบ€ใชใฉใฎๆˆ้•ทใƒ›ใƒซใƒขใƒณ(GH)ๅˆ†ๆณŒไธๅ…จใจ้กžไผผใ™ใ‚‹็—‡็Šถใ‚’็คบใ™ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใš๏ผŒ่ก€ๆผฟGHๅ€คใŒ้ซ˜ๅ€คใ‚’็คบใ™็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚1989ๅนดใ€ๆœฌ็–พๆ‚ฃใฏGHๅ—ๅฎนไฝ“้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใใ‚‰ใ‹ใจใชใฃใŸใ€‚GHใ‚ทใ‚ฐใƒŠใƒซใŒๅๅˆ†ใซไผ้”ใ•ใ‚Œใชใ„ใŸใ‚ใ€GHๅˆ†ๆณŒไธๅ…จใจๅŒๆง˜ใฎ็‰นๅพดใ‚ใ‚‹็—‡็Šถ๏ผŒๆ‰€่ฆ‹ใ‚’็คบใ™ใ€‚Laronๅž‹ไฝŽ่บซ้•ท็—‡ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200321" ; + dcterms:source ; a owl:Class ; - rdfs:label "Growth hormone insensitivity"@en, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009877, mondo:MONDO_0015892 ; + rdfs:label "Growth hormone insensitivity"@en, "ใ›ใ„ใกใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015892 ; skos:prefLabel "ๆˆ้•ทใƒ›ใƒซใƒขใƒณไธๅฟœๆ€ง็—‡ๅ€™็พค"@ja . -:2200322 - :hasNotificationNumber "33" ; - terms:description "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณใฏใ€ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒ็ดฐ่ƒžใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ€่ฆ–ๅบŠไธ‹้ƒจใ‹ใ‚‰ใฎๆŠ‘ๅˆถ็š„ใช่ชฟ็ฏ€ใ‚’ใ†ใ‘ใฆใ„ใ‚‹ใ€‚้‡ๅบฆใฎ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ใฏใ€ใใฎๅคšใใŒใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซ๏ผˆใƒ—ใƒญใƒฉใ‚ฏใƒใƒŽใƒผใƒž๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200322" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณใฏใ€ไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใฎใƒ—ใƒญใƒฉใ‚ฏใƒใƒณๅˆ†ๆณŒ็ดฐ่ƒžใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ€่ฆ–ๅบŠไธ‹้ƒจใ‹ใ‚‰ใฎๆŠ‘ๅˆถ็š„ใช่ชฟ็ฏ€ใ‚’ใ†ใ‘ใฆใ„ใ‚‹ใ€‚้‡ๅบฆใฎ้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡ใฏใ€ใใฎๅคšใใŒใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซ๏ผˆใƒ—ใƒญใƒฉใ‚ฏใƒใƒŽใƒผใƒž๏ผ‰ใซใ‚ˆใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200322" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyperprolactinaemia"@en, "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡"@ja ; + rdfs:label "Hyperprolactinemia"@en, "ใ“ใ†ใทใ‚ใ‚‰ใใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005804, mondo:MONDO_0023209, mondo:MONDO_0024305 ; + rdfs:subClassOf ; + skos:altLabel "Hyperprolactinaemia"@en ; + skos:closeMatch obo:MONDO_0005804 ; skos:prefLabel "้ซ˜ใƒ—ใƒญใƒฉใ‚ฏใƒใƒณ่ก€็—‡"@ja . -:2200323 - :hasNotificationNumber "34" ; - terms:description "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆsyndrome of inappropriate secretion of ADH: SIADH๏ผ‰ใฏใ€ไฝŽๆตธ้€ๅœง่ก€็—‡ไธ‹ใงใ‚‚ADHใฎๅˆ†ๆณŒใŒๆŠ‘ๅˆถใ•ใ‚Œใšใ€ๆฐดๅˆฉๅฐฟไธๅ…จใ‚’็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฎใ†ใกใ€ไฝ“ๅ†…ใƒŠใƒˆใƒชใ‚ฆใƒ ้‡ใซๅค‰ๅ‹•ใฎ็„กใ„ใ€็จ€้‡ˆๆ€งใฎไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200323" ; - terms:source ; - a owl:Class ; - rdfs:label "Syndrome of inappropriate secretion of antidiuretic hormone"@en, "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0006802 ; + + nando:hasNotificationNumber "34" ; + dcterms:description "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆsyndrome of inappropriate secretion of ADH: SIADH๏ผ‰ใฏใ€ไฝŽๆตธ้€ๅœง่ก€็—‡ไธ‹ใงใ‚‚ADHใฎๅˆ†ๆณŒใŒๆŠ‘ๅˆถใ•ใ‚Œใšใ€ๆฐดๅˆฉๅฐฟไธๅ…จใ‚’็”Ÿใšใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฎใ†ใกใ€ไฝ“ๅ†…ใƒŠใƒˆใƒชใ‚ฆใƒ ้‡ใซๅค‰ๅ‹•ใฎ็„กใ„ใ€็จ€้‡ˆๆ€งใฎไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใซ่ฉฒๅฝ“ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200323" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Syndrome of inappropriate secretion of antidiuretic hormone"@en, "ใ“ใ†ใ‚Šใซใ‚‡ใ†ใปใ‚‹ใ‚‚ใ‚“ใตใฆใใ›ใคใถใ‚“ใดใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ADHๅˆ†ๆณŒไบข้€ฒ็—‡"@ja, "SIADH"@en, "ใƒใ‚พใƒ—ใƒฌใ‚ทใƒณๅˆ†ๆณŒ้Žๅ‰ฐ็—‡"@ja ; + skos:closeMatch obo:MONDO_0006802 ; skos:prefLabel "ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค"@ja . -:2200324 - :hasNotificationNumber "75" ; - terms:description "ไธ‹ๅž‚ไฝ“ๅพŒ่‘‰ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹arginine vasopressin (AVP) ใฎๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚Šใ€่…Ž้›†ๅˆ็ฎกใงใฎๆฐดๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ€ไฝŽๆตธ้€ๅœงๅฐฟใŒๅคš้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200324" ; - terms:source ; + + nando:hasNotificationNumber "75" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ๅพŒ่‘‰ใ‹ใ‚‰ๅˆ†ๆณŒใ•ใ‚Œใ‚‹ๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹arginine vasopressin (AVP) ใฎๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚Šใ€่…Ž้›†ๅˆ็ฎกใงใฎๆฐดๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ€ไฝŽๆตธ้€ๅœงๅฐฟใŒๅคš้‡ใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200324" ; + dcterms:source ; a owl:Class ; - rdfs:label "Central diabetes insipidus"@en, "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007450, mondo:MONDO_0015790 ; + rdfs:label "Central diabetes insipidus"@en, "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015790 ; skos:prefLabel "ไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja . -:2200325 - :hasNotificationNumber "73" ; - terms:description "้€šๅธธใ€่ก€ๆธ…ใพใŸใฏ่ก€ๆผฟไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏใฉใฎๅนดไปฃใซใŠใ„ใฆใ‚‚135ใ€œ145mEq/lใซใ‚ณใƒณใƒˆใƒญใƒผใƒซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏ่ก€ๆถฒใฎๆตธ้€ๅœงใ‚’ไธ€ๅฎšใซไฟใคใฎใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใŸใ‚ใ€่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚Œใฐๅฃๆธ‡ไธญๆžขใŒๅƒใใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซ้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‹ใ€‚่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ€็‰นใซๆญฃไธญๅฅ‡ๅฝขใ‚„่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚Šๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒ่ตทใ“ใ‚‹ใจใ€้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‰ใชใ„ใŸใ‚ใซ้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅบƒ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจๅ‘ผใถใ€‚ใ•ใ‚‰ใซ็‹ญ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฏใ€ๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒใ‚ใ‚‹ใ“ใจใซๅŠ ใˆใ€ๆ˜Žใ‚‰ใ‹ใชๆฐดๅˆ†ๆ‘‚ๅ–ไธๅ…จใŒใชใใฆใ‚‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๅ€คใฎๅค‰ๅ‹•ใ‚’่ฆ‹ใ‚‹ใ‚‚ใฎใงใ€ๅŒไธ€ใฎ็—‡ไพ‹ใงไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚‚ไฝต็™บใ—ใ†ใ‚‹ใ€‚็—…ๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ๅˆฉๅฐฟใƒšใƒ—ใƒใƒ‰ใ‚„ๆœช็Ÿฅใฎๅ› ๅญใฎไฝœ็”จใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200325" ; - terms:source ; + + nando:hasNotificationNumber "73" ; + dcterms:description "้€šๅธธใ€่ก€ๆธ…ใพใŸใฏ่ก€ๆผฟไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏใฉใฎๅนดไปฃใซใŠใ„ใฆใ‚‚135ใ€œ145mEq/lใซใ‚ณใƒณใƒˆใƒญใƒผใƒซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ใฏ่ก€ๆถฒใฎๆตธ้€ๅœงใ‚’ไธ€ๅฎšใซไฟใคใฎใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใŸใ‚ใ€่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚Œใฐๅฃๆธ‡ไธญๆžขใŒๅƒใใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซ้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‹ใ€‚่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ€็‰นใซๆญฃไธญๅฅ‡ๅฝขใ‚„่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚Šๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒ่ตทใ“ใ‚‹ใจใ€้ฃฒๆฐด่กŒๅ‹•ใŒ่ตทใ“ใ‚‰ใชใ„ใŸใ‚ใซ้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใŒ่ตทใ“ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅบƒ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจๅ‘ผใถใ€‚ใ•ใ‚‰ใซ็‹ญ็พฉใฎๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใฏใ€ๅฃๆธ‡ไธญๆžขใฎ้šœๅฎณใŒใ‚ใ‚‹ใ“ใจใซๅŠ ใˆใ€ๆ˜Žใ‚‰ใ‹ใชๆฐดๅˆ†ๆ‘‚ๅ–ไธๅ…จใŒใชใใฆใ‚‚่ก€ไธญใƒŠใƒˆใƒชใ‚ฆใƒ ๅ€คใฎๅค‰ๅ‹•ใ‚’่ฆ‹ใ‚‹ใ‚‚ใฎใงใ€ๅŒไธ€ใฎ็—‡ไพ‹ใงไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚‚ไฝต็™บใ—ใ†ใ‚‹ใ€‚็—…ๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใŒใ€ใƒŠใƒˆใƒชใ‚ฆใƒ ๅˆฉๅฐฟใƒšใƒ—ใƒใƒ‰ใ‚„ๆœช็Ÿฅใฎๅ› ๅญใฎไฝœ็”จใŒ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200325" ; + dcterms:source ; a owl:Class ; - rdfs:label "ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡"@ja ; + rdfs:label "Adipsic hypernatremia"@en, "ใ“ใ†ใ‹ใคใกใ‚…ใ†ใ™ใ†ใ—ใ‚‡ใ†ใŒใ„ใ‚’ใจใ‚‚ใชใ†ใ“ใ†ใชใจใ‚Šใ†ใ‚€ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡"@ja . - -:2200326 - :hasNotificationNumber "74" ; - terms:description "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200326" ; - terms:source ; - a owl:Class ; - rdfs:label "Nephrogenic diabetes insipidus"@en, "่…Žๆ€งๅฐฟๅดฉ็—‡"@ja ; + rdfs:subClassOf ; + skos:altLabel "Adipsic hypernatraemia"@en, "Essential hypernatremia"@en, "ๆœฌๆ…‹ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡"@ja, "็„ก้ฃฒ็—‡ๆ€ง้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0018620 ; + skos:prefLabel "ๅฃๆธ‡ไธญๆžข้šœๅฎณใ‚’ไผดใ†้ซ˜ใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "74" ; + dcterms:description "่…Ž่‡“ใฎ่…Žๅฐฟ็ดฐ็ฎก็ดฐ่ƒžใฎๆŠ—ๅˆฉๅฐฟใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆ„Ÿๅ—ๆ€งใŒไฝŽไธ‹ใ—ใฆใ€ๅฐฟใฎๆฐดๅˆ†ใฎๅ†ๅธๅŽใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๅฐฟๆฟƒ็ธฎ้šœๅฎณใŒๆƒน่ตทใ•ใ‚Œใ€ๅคšๅฐฟใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200326" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nephrogenic diabetes insipidus"@en, "ใ˜ใ‚“ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "่…Žๆ€งๅฐฟๅดฉ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016383 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016383 ; skos:prefLabel "่…Žๆ€งๅฐฟๅดฉ็—‡"@ja . -:2200327 - :hasNotificationNumber "67" ; - terms:description "ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃ็ฝนๆ‚ฃๆ™‚ใ‚ใ‚‹ใ„ใฏ็ฝนๆ‚ฃๅพŒใซใ€ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’ๆฅใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎไธปใŸใ‚‹็—…ๅ› ใจใ—ใฆใ€ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆSIADH๏ผ‰ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚SIADHใงใฏใ€ADHใŒไธ้ฉๅˆ‡ใซๅคšใๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๆฐดๅˆ†่ฒฏ็•™ใ‚’ๆฅใ™ใ€‚ไธ€ๆ–นใ€ๅฐฟไธญใฎๅกฉๆŽ’ๆณ„ใŒไบข้€ฒใ—ใ€็ดฐ่ƒžๅค–ๆถฒใŒๆธ›ๅฐ‘ใ—ใฆไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจ่„ฑๆฐด็—‡ใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใ‚’ใ€ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค๏ผˆCSW๏ผ‰ใจๅ‘ผใณใ€SIADHใจๅŒบๅˆฅใ—ใฆใ„ใ‚‹ใ€‚ใ€€SIADHใงใ‚‚ใ€่ฒฏ็•™ใ—ใŸๆฐดๅˆ†ใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ—ใฆใ€ๅฐฟไธญNaๆŽ’ๆณ„ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚SIADHใฎ่จบๆ–ญใซใ€ๅฐฟไธญNaใŒ20 mEq/lใŒๅซใพใ‚Œใฆใ„ใ‚‹ใฎใฏใ“ใฎใŸใ‚ใงใ‚ใ‚‹ใ€‚CSWใฏSIADHใซใŠใ‘ใ‚‹NaๆŽ’ๆณ„ใŒใ•ใ‚‰ใซไบข้€ฒใ—ใ€ๅคง้‡ใฎNaใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ™ใ‚‹ใŸใ‚ใซไฝŽNaใŒๆ‚ชๅŒ–ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€SIADHใฎๅปถ้•ทไธŠใซใ‚ใ‚‹็—…ๆ…‹ใงใ‚ใ‚Š็‹ฌ็ซ‹ใ—ใŸ็—…ๆ…‹ใงใฏ็„กใ„ใ€ใจใ„ใ†่€ƒใˆๆ–นใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ไฝ“ๆถฒ้‡ใซใคใ„ใฆใฏๆฐดๅˆ†้Žๅ‰ฐใงใ‚ใ‚‹ใ‹ใ€่„ฑๆฐดใงใ‚ใ‚‹ใ‹ใจใ„ใ†้€†ใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€ๆฒป็™‚ๆณ•ใ‚‚็•ฐใชใ‚‹ใŸใ‚ใ€ไบŒใคใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใŒ่‡จๅบŠไธŠใฏใ‚ใ‹ใ‚Šใ‚„ใ™ใ„ใ€‚"@ja ; - terms:identifier "2200327" ; - terms:source ; + + nando:hasNotificationNumber "67" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃ็ฝนๆ‚ฃๆ™‚ใ‚ใ‚‹ใ„ใฏ็ฝนๆ‚ฃๅพŒใซใ€ไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’ๆฅใ™ใ“ใจใŒใ‚ใ‚‹ใ€‚ใใฎไธปใŸใ‚‹็—…ๅ› ใจใ—ใฆใ€ADHไธ้ฉๅˆ‡ๅˆ†ๆณŒ็—‡ๅ€™็พค๏ผˆSIADH๏ผ‰ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚SIADHใงใฏใ€ADHใŒไธ้ฉๅˆ‡ใซๅคšใๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใŸใ‚ใ€ๆฐดๅˆ†่ฒฏ็•™ใ‚’ๆฅใ™ใ€‚ไธ€ๆ–นใ€ๅฐฟไธญใฎๅกฉๆŽ’ๆณ„ใŒไบข้€ฒใ—ใ€็ดฐ่ƒžๅค–ๆถฒใŒๆธ›ๅฐ‘ใ—ใฆไฝŽใƒŠใƒˆใƒชใ‚ฆใƒ ่ก€็—‡ใจ่„ฑๆฐด็—‡ใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใ‚’ใ€ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค๏ผˆCSW๏ผ‰ใจๅ‘ผใณใ€SIADHใจๅŒบๅˆฅใ—ใฆใ„ใ‚‹ใ€‚ใ€€SIADHใงใ‚‚ใ€่ฒฏ็•™ใ—ใŸๆฐดๅˆ†ใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ—ใฆใ€ๅฐฟไธญNaๆŽ’ๆณ„ใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚SIADHใฎ่จบๆ–ญใซใ€ๅฐฟไธญNaใŒ20 mEq/lใŒๅซใพใ‚Œใฆใ„ใ‚‹ใฎใฏใ“ใฎใŸใ‚ใงใ‚ใ‚‹ใ€‚CSWใฏSIADHใซใŠใ‘ใ‚‹NaๆŽ’ๆณ„ใŒใ•ใ‚‰ใซไบข้€ฒใ—ใ€ๅคง้‡ใฎNaใ‚’ๆŽ’ๆณ„ใ—ใ‚ˆใ†ใจใ™ใ‚‹ใŸใ‚ใซไฝŽNaใŒๆ‚ชๅŒ–ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€SIADHใฎๅปถ้•ทไธŠใซใ‚ใ‚‹็—…ๆ…‹ใงใ‚ใ‚Š็‹ฌ็ซ‹ใ—ใŸ็—…ๆ…‹ใงใฏ็„กใ„ใ€ใจใ„ใ†่€ƒใˆๆ–นใ‚‚ใ‚ใ‚‹ใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ไฝ“ๆถฒ้‡ใซใคใ„ใฆใฏๆฐดๅˆ†้Žๅ‰ฐใงใ‚ใ‚‹ใ‹ใ€่„ฑๆฐดใงใ‚ใ‚‹ใ‹ใจใ„ใ†้€†ใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€ๆฒป็™‚ๆณ•ใ‚‚็•ฐใชใ‚‹ใŸใ‚ใ€ไบŒใคใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใŒ่‡จๅบŠไธŠใฏใ‚ใ‹ใ‚Šใ‚„ใ™ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200327" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cerebral salt wasting syndrome"@en, "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค"@ja ; + rdfs:label "Cerebral salt wasting syndrome"@en, "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใˆใ‚“ใใ†ใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ไธญๆžขๆ€งๅกฉๅ–ชๅคฑ็—‡ๅ€™็พค"@ja . -:2200328 - :hasNotificationNumber "24" ; - terms:description "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใƒใ‚ปใƒ‰ใ‚ฆใฏใ“ใฎ็—…ๆฐ—ใ‚’็ ”็ฉถๅ ฑๅ‘Šใ—ใŸใƒ‰ใ‚คใƒ„ไบบๅŒปๅธซใฎๅใงใ€่‹ฑ่ชžๅœใงใฏใ‚‚ใ†ไธ€ไบบใฎ็ ”็ฉถ่€…ใงใ‚ใ‚‹ใ‚คใ‚ฎใƒชใ‚นไบบๅŒปๅธซใฎๅใ‹ใ‚‰Gravesโ€™diseaseใจ็งฐใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200328" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใƒใ‚ปใƒ‰ใ‚ฆใฏใ“ใฎ็—…ๆฐ—ใ‚’็ ”็ฉถๅ ฑๅ‘Šใ—ใŸใƒ‰ใ‚คใƒ„ไบบๅŒปๅธซใฎๅใงใ€่‹ฑ่ชžๅœใงใฏใ‚‚ใ†ไธ€ไบบใฎ็ ”็ฉถ่€…ใงใ‚ใ‚‹ใ‚คใ‚ฎใƒชใ‚นไบบๅŒปๅธซใฎๅใ‹ใ‚‰Gravesโ€™diseaseใจ็งฐใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200328" ; + dcterms:source ; a owl:Class ; - rdfs:label "Basedow disease"@en, "ใƒใ‚ปใƒ‰ใ‚ฆ็—…"@ja ; + rdfs:label "Basedow disease"@en, "ใฐใ›ใฉใ†ใณใ‚‡ใ†"@ja-Hira, "ใƒใ‚ปใƒ‰ใ‚ฆ็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Basedow็—… "@ja, "Graves' disease"@en ; - skos:closeMatch mondo:MONDO_0005364 ; + skos:closeMatch obo:MONDO_0005364 ; skos:prefLabel "ใƒใ‚ปใƒ‰ใ‚ฆ็—…"@ja . -:2200329 - :hasNotificationNumber "23" ; - terms:description "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใใ‚Œไปฅๅค–ใฎๅŽŸๅ› ใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200329" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "็”ฒ็Šถ่…บใงใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎๅˆๆˆใจๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใŒ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใŒใณใพใ‚“ๆ€งใซ่…ซๅคงใ—็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ใƒใ‚ปใƒ‰ใ‚ฆ็—…ใจ็งฐใ™ใ‚‹ใ€‚ใใ‚Œไปฅๅค–ใฎๅŽŸๅ› ใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200329" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyperthyroidism"@en, "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; + rdfs:label "Hyperthyroidism"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004425 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004425 ; skos:prefLabel "็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja . -:2200330 - :hasNotificationNumber "28" ; - terms:description "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ‹ๆญฃๆ‰€ๆ€งใงใฏใ‚ใ‚‹ใŒๅฝขๆˆไธๅ…จ๏ผˆ็‰‡่‘‰ๆ€งใ‚‚ๅซใ‚€๏ผ‰ใฎใŸใ‚ใ€ไฝ“ๅ†…ใฎ็”ฒ็Šถ่…บ็ดฐ่ƒžใŒๅๅˆ†้‡ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใ‚’็”ฃ็”Ÿใงใใชใ„ใ“ใจใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ€ๆฌ ๆๆ€งใ‚ใ‚‹ใ„ใฏๅฝขๆˆไธๅ…จใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200330" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใฆใ„ใ‚‹ใ‹ๆญฃๆ‰€ๆ€งใงใฏใ‚ใ‚‹ใŒๅฝขๆˆไธๅ…จ๏ผˆ็‰‡่‘‰ๆ€งใ‚‚ๅซใ‚€๏ผ‰ใฎใŸใ‚ใ€ไฝ“ๅ†…ใฎ็”ฒ็Šถ่…บ็ดฐ่ƒžใŒๅๅˆ†้‡ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใ‚’็”ฃ็”Ÿใงใใชใ„ใ“ใจใง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ€ๆฌ ๆๆ€งใ‚ใ‚‹ใ„ใฏๅฝขๆˆไธๅ…จใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200330" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ectoic thyroid"@en, "็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ"@ja ; + rdfs:label "Ectoic thyroid"@en, "ใ„ใ—ใ‚‡ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“"@ja-Hira, "็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019854 ; skos:prefLabel "็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บ"@ja . -:2200331 - :hasNotificationNumber "30" ; - terms:description "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚็„ก็”ฒ็Šถ่…บ็—‡ใฏใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใฎไธ€ๅˆ†้กžใงใ‚ใ‚Šใ€่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹็”ฒ็Šถ่…บๅŽŸๅŸบใฎ็™บ็”Ÿ้Ž็จ‹ใซใชใ‚“ใ‚‰ใ‹ใฎ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใซใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใŸใ‚‚ใฎใ€‚็„กๅฝขๆˆใ€็”ฒ็Šถ่…บๆฌ ๆใชใฉใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200331" ; - terms:source ; - a owl:Class ; - rdfs:label "Thyroid agenesis"@en, "็„ก็”ฒ็Šถ่…บ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "athyreosis"@en ; - skos:closeMatch mondo:MONDO_0019855, mondo:MONDO_0024264 ; + + nando:hasNotificationNumber "30" ; + dcterms:description "็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚็„ก็”ฒ็Šถ่…บ็—‡ใฏใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใฎไธ€ๅˆ†้กžใงใ‚ใ‚Šใ€่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹็”ฒ็Šถ่…บๅŽŸๅŸบใฎ็™บ็”Ÿ้Ž็จ‹ใซใชใ‚“ใ‚‰ใ‹ใฎ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใซใ€็”ฒ็Šถ่…บใŒๆฌ ๆใ—ใŸใ‚‚ใฎใ€‚็„กๅฝขๆˆใ€็”ฒ็Šถ่…บๆฌ ๆใชใฉใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200331" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Thyroid agenesis"@en, "ใ‚€ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็„ก็”ฒ็Šถ่…บ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Athyreosis"@en ; + skos:closeMatch obo:MONDO_0019855 ; skos:prefLabel "็„ก็”ฒ็Šถ่…บ็—‡"@ja . -:2200332 - :hasNotificationNumber "29" ; - terms:description "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ไธญๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผณ๏ผจ๏ผ‰ใซใ‚ˆใ‚‹ๅˆบๆฟ€ใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใ€็”ฒ็Šถ่…บ่‡ชไฝ“ใฏๆญฃๅธธใงใ‚ใฃใฆใ‚‚ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่งฃๅ‰–ๅญฆ็š„ใ€ๆฉŸ่ƒฝ็š„้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅพ“ๆฅใ€ไธ‹ๅž‚ไฝ“ใซ้šœๅฎณใŒใ‚ใฃใฆ๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใซ็”Ÿใ˜ใ‚‹ไธ‹ๅž‚ไฝ“ๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚‹็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ้Š้›ขใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผฒ๏ผจ๏ผ‰ไฝŽไธ‹ใŒ้–“ๆŽฅ็š„ใซ๏ผด๏ผณ๏ผจๅˆ†ๆณŒไฝŽไธ‹ใ‚’ๆฅใ™่ฆ–ๅบŠไธ‹้ƒจๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใฆใ„ใŸใ€‚ใ—ใ‹ใ—ใ€ๅ‰่€…ใงใฏ๏ผด๏ผฒ๏ผจ่ฉฆ้จ“ใซใ‚ˆใ‚‹๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใ€ๅพŒ่€…ใงใฏ้Žๅคงๅๅฟœใ‚’็คบใ™ใจใ„ใ†ใ€ใ“ใ‚Œใพใงใฎ่€ƒใˆๆ–นใงใฏ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ไธก่€…ใฎ๏ผด๏ผณ๏ผจๅˆ†ๆณŒๅๅฟœใซ้‡ใชใ‚ŠใŒใ‚ใ‚‹ใ“ใจใ€ใพใŸ๏ผด๏ผณ๏ผจใฎ้‡็š„ไฝŽไธ‹ใ ใ‘ใงใชใ็”Ÿ็‰ฉๅญฆ็š„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ‚‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใชใฉใ‹ใ‚‰ใ€ไธก่€…ใ‚’ๅŒบๅˆ†ใ›ใšใซไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆTSH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹็—‡ใฏไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒ็พฉใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200332" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ไธญๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผณ๏ผจ๏ผ‰ใซใ‚ˆใ‚‹ๅˆบๆฟ€ใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใ€็”ฒ็Šถ่…บ่‡ชไฝ“ใฏๆญฃๅธธใงใ‚ใฃใฆใ‚‚ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใ€ใ‚ใ‚‹ใ„ใฏไธก่€…ใฎ่งฃๅ‰–ๅญฆ็š„ใ€ๆฉŸ่ƒฝ็š„้šœๅฎณใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅพ“ๆฅใ€ไธ‹ๅž‚ไฝ“ใซ้šœๅฎณใŒใ‚ใฃใฆ๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚ใซ็”Ÿใ˜ใ‚‹ไธ‹ๅž‚ไฝ“ๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่ฆ–ๅบŠไธ‹้ƒจ้šœๅฎณใซใ‚ˆใ‚‹็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ้Š้›ขใƒ›ใƒซใƒขใƒณ๏ผˆ๏ผด๏ผฒ๏ผจ๏ผ‰ไฝŽไธ‹ใŒ้–“ๆŽฅ็š„ใซ๏ผด๏ผณ๏ผจๅˆ†ๆณŒไฝŽไธ‹ใ‚’ๆฅใ™่ฆ–ๅบŠไธ‹้ƒจๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใฆใ„ใŸใ€‚ใ—ใ‹ใ—ใ€ๅ‰่€…ใงใฏ๏ผด๏ผฒ๏ผจ่ฉฆ้จ“ใซใ‚ˆใ‚‹๏ผด๏ผณ๏ผจๅˆ†ๆณŒใŒไฝŽไธ‹ใ—ใ€ๅพŒ่€…ใงใฏ้Žๅคงๅๅฟœใ‚’็คบใ™ใจใ„ใ†ใ€ใ“ใ‚Œใพใงใฎ่€ƒใˆๆ–นใงใฏ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ไธก่€…ใฎ๏ผด๏ผณ๏ผจๅˆ†ๆณŒๅๅฟœใซ้‡ใชใ‚ŠใŒใ‚ใ‚‹ใ“ใจใ€ใพใŸ๏ผด๏ผณ๏ผจใฎ้‡็š„ไฝŽไธ‹ใ ใ‘ใงใชใ็”Ÿ็‰ฉๅญฆ็š„ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ‚‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใชใฉใ‹ใ‚‰ใ€ไธก่€…ใ‚’ๅŒบๅˆ†ใ›ใšใซไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ๏ผˆTSH๏ผ‰ๅˆ†ๆณŒไฝŽไธ‹็—‡ใฏไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒ็พฉใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200332" ; + dcterms:source ; a owl:Class ; - rdfs:label "Thyroid-stimulating hormone deficiency"@en, "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Thyroid-stimulating hormone deficiency"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใถใ‚“ใดใคใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "TSHๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; - skos:closeMatch mondo:MONDO_0010139, mondo:MONDO_0016410 ; + skos:closeMatch obo:MONDO_0016410 ; skos:prefLabel "็”ฒ็Šถ่…บๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja . -:2200333 - :hasNotificationNumber "29" ; - terms:identifier "2200333" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:identifier "NANDO:2200333" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital hypothyroidism"@en, "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:label "Congenital hypothyroidism"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018612 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018612 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200334 - :hasNotificationNumber "31" ; - terms:description "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ใ€Œ16ใ‹ใ‚‰18ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ใจใ—ใฆใฏใ€ๆฐธ็ถšๆ€งๅŽŸ็™บๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆpermanent primary congenital hypothyroidism๏ผšไปฅไธ‹ใ€ๅŽŸ็™บๆ€ง๏ผฃ๏ผจ๏ผ‰ใฎไธญใงใ€ไธ‹่จ˜ใฎ็—…ๅ› ใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽ็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธใฎใ†ใกไฝŽๅฝขๆˆใ€็‰‡่‘‰ๆฌ ๆ๏ผ’๏ผŽ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณ๏ผ“๏ผŽๆฉŸ่ƒฝๅ–ชๅคฑๅž‹TSHๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใฎๆฌ ๆ็ญ‰ใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ใ€€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ้‡่ฆใชๆง‹ๆˆ่ฆ็ด ใงใ‚ใ‚‹ใƒจใƒผใƒ‰๏ผˆใƒจใ‚ฆ็ด ๏ผ‰ใŒใ€่ก€ๆถฒไธญใ‹ใ‚‰็”ฒ็Šถ่…บๆฟพ่ƒž็ดฐ่ƒžไธญใซๅ–ใ‚Š่พผใพใ‚Œใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใจใชใฃใฆ่ก€ๆถฒไธญใซๆ”พๅ‡บใ•ใ‚Œใ‚‹ใพใงใฎไธ€้€ฃใฎ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆใƒปๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅคง้ƒจๅˆ†ใฏ้–ขไฟ‚ใ™ใ‚‹้…ต็ด ใชใฉใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ€ไธปใซๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200334" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆcongenital hypothyroidism๏ผšไปฅไธ‹ใ€๏ผฃ๏ผจ๏ผ‰ใฏใ€่ƒŽๅ…ๆœŸใพใŸใฏๅ‘จ็”ฃๆœŸใซ็”Ÿใ˜ใŸไฝ•ใ‚‰ใ‹ใฎ็—…ๅ› ใซใ‚ˆใ‚Šใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿไธ่ถณใพใŸใฏไฝœ็”จไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๆŒ็ถšๆœŸ้–“ใซใ‚ˆใ‚Šๆฐธ็ถšๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธ€้Žๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ€ใ•ใ‚‰ใซ้šœๅฎณ้ƒจไฝใŒ็”ฒ็Šถ่…บ่‡ชไฝ“ใงใ‚ใ‚‹ๅŽŸ็™บๆ€ง๏ผˆใ‚ใ‚‹ใ„ใฏ็”ฒ็Šถ่…บๆ€ง๏ผ‰็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ไธ‹ๅž‚ไฝ“ใ‚„่ฆ–ๅบŠไธ‹้ƒจใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไฝœ็”จไธๅ…จใซใ‚ˆใ‚‹ๆœซๆขขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ใ€Œ16ใ‹ใ‚‰18ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ใจใ—ใฆใฏใ€ๆฐธ็ถšๆ€งๅŽŸ็™บๆ€งๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆpermanent primary congenital hypothyroidism๏ผšไปฅไธ‹ใ€ๅŽŸ็™บๆ€ง๏ผฃ๏ผจ๏ผ‰ใฎไธญใงใ€ไธ‹่จ˜ใฎ็—…ๅ› ใŒใ‚ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽ็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธใฎใ†ใกไฝŽๅฝขๆˆใ€็‰‡่‘‰ๆฌ ๆ๏ผ’๏ผŽ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณ๏ผ“๏ผŽๆฉŸ่ƒฝๅ–ชๅคฑๅž‹TSHๅ—ๅฎนไฝ“้บไผๅญๅค‰็•ฐ็”ฒ็Šถ่…บใฏๆญฃๅธธใงใ‚ใ‚Œใฐใ€ๅ‰้ ธ้ƒจใฎ็”ฒ็Šถ่ปŸ้ชจใฎใ‚„ใ‚„ไธ‹ๆ–นใซไฝ็ฝฎใ—ใ€ๆฐ—็ฎกใ‚’ๅ‰้ขใ‹ใ‚‰ๅ›ฒใ‚€ใ‚ˆใ†ใซๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆญฃๅธธไฝ็ฝฎใฎๅ ดๅˆใ€Œๆญฃๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ—ใ€ไฝ็ฝฎ็•ฐๅธธใ‚’ๆฅใ—ใŸใ‚‚ใฎใ‚’ใ€Œ็•ฐๆ‰€ๆ€งใ€็”ฒ็Šถ่…บใจ็งฐใ™ใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง็”ฒ็Šถ่…บใ‚„ใ€็”ฒ็Šถ่…บใฎๆฌ ๆ็ญ‰ใฏ็”ฒ็Šถ่…บใฎ็™บ็”Ÿ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€็”ฒ็Šถ่…บๅฝขๆˆ็•ฐๅธธ๏ผˆthyroid dysgenesis๏ผ‰ใจ็ท็งฐใ•ใ‚Œใ‚‹ใ€‚ใ€€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆ้šœๅฎณใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ้‡่ฆใชๆง‹ๆˆ่ฆ็ด ใงใ‚ใ‚‹ใƒจใƒผใƒ‰๏ผˆใƒจใ‚ฆ็ด ๏ผ‰ใŒใ€่ก€ๆถฒไธญใ‹ใ‚‰็”ฒ็Šถ่…บๆฟพ่ƒž็ดฐ่ƒžไธญใซๅ–ใ‚Š่พผใพใ‚Œใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใจใชใฃใฆ่ก€ๆถฒไธญใซๆ”พๅ‡บใ•ใ‚Œใ‚‹ใพใงใฎไธ€้€ฃใฎ้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚Š็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅˆๆˆใƒปๅˆ†ๆณŒใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚ๅคง้ƒจๅˆ†ใฏ้–ขไฟ‚ใ™ใ‚‹้…ต็ด ใชใฉใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ€ไธปใซๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200334" ; + dcterms:source ; a owl:Class ; - rdfs:label "17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Congenital hypothyroidism"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "17ใ‹ใ‚‰19ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Other congenital hypothyroidism"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "CH"@en ; - skos:closeMatch mondo:MONDO_0008090, mondo:MONDO_0018612 ; skos:prefLabel "17ใ‹ใ‚‰19ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200335 - :hasNotificationNumber "26" ; - terms:description "ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใฏใ€่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž(autoimmune thyroiditis)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚1912 ๅนดใซๆฉ‹ๆœฌ็ญ–ๅšๅฃซใŒ 4 ๅใฎไธญๅนดๅฅณๆ€งใฎใณใพใ‚“ๆ€ง็”ฒ็Šถ่…บ่…ซใฎ็—…็†ๆ‰€่ฆ‹ใ‚’ใƒชใƒณใƒ‘่…ซๆ€ง็”ฒ็Šถ่…บ่…ซ (struma lymphomatosa) ใจใ—ใฆ็™บ่กจใ—ใŸใฎใŒๆœ€ๅˆใงใ‚ใ‚Šใ€ใใฎ็—…็†ๅญฆ็š„็‰นๅพดใฏใ€็”ฒ็Šถ่…บๅฎŸ่ณชใธใฎใƒชใƒณใƒ‘็ƒๆตธๆฝคใจใƒชใƒณใƒ‘ๆฟพ่ƒžใฎๅฝขๆˆใ€ๆฟพ่ƒžไธŠ็šฎใฎ่Ž็ธฎใจๅฅฝ้…ธๆ€งๅค‰ๆ€งใ€้–“่ณชใฎ็ทš็ถญๅŒ–ใงใ‚ใฃใŸใ€‚ใใฎๅพŒใ€ๆ‚ฃ่€…่ก€ไธญใซๆŠ—็”ฒ็Šถ่…บ่‡ชๅทฑๆŠ—ไฝ“ใŒ่จผๆ˜Žใ•ใ‚Œใ€ๆœฌ็–พๆ‚ฃใฏ่‡ชๅทฑๅ…็–ซๅๅฟœใซใ‚ˆใ‚‹็”ฒ็Šถ่…บใฎๆ…ขๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใจๆฉ‹ๆœฌ็—…ใฏๅŒ็พฉ่ชžใจใ—ใฆไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅ›ฝ้š›็–พ็—…ๅˆ†้กž ICD10 ใงใฏๆฉ‹ๆœฌ็”ฒ็Šถ่…บ็‚Ž (Hashimotoโ€™s thyroiditis) ใจ่กจ่จ˜ใ•ใ‚Œใ€ใ“ใ‚ŒใŒๅญฆ่ก“็”จ่ชžใจใ—ใฆๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200335" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใฏใ€่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž(autoimmune thyroiditis)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚1912 ๅนดใซๆฉ‹ๆœฌ็ญ–ๅšๅฃซใŒ 4 ๅใฎไธญๅนดๅฅณๆ€งใฎใณใพใ‚“ๆ€ง็”ฒ็Šถ่…บ่…ซใฎ็—…็†ๆ‰€่ฆ‹ใ‚’ใƒชใƒณใƒ‘่…ซๆ€ง็”ฒ็Šถ่…บ่…ซ (struma lymphomatosa) ใจใ—ใฆ็™บ่กจใ—ใŸใฎใŒๆœ€ๅˆใงใ‚ใ‚Šใ€ใใฎ็—…็†ๅญฆ็š„็‰นๅพดใฏใ€็”ฒ็Šถ่…บๅฎŸ่ณชใธใฎใƒชใƒณใƒ‘็ƒๆตธๆฝคใจใƒชใƒณใƒ‘ๆฟพ่ƒžใฎๅฝขๆˆใ€ๆฟพ่ƒžไธŠ็šฎใฎ่Ž็ธฎใจๅฅฝ้…ธๆ€งๅค‰ๆ€งใ€้–“่ณชใฎ็ทš็ถญๅŒ–ใงใ‚ใฃใŸใ€‚ใใฎๅพŒใ€ๆ‚ฃ่€…่ก€ไธญใซๆŠ—็”ฒ็Šถ่…บ่‡ชๅทฑๆŠ—ไฝ“ใŒ่จผๆ˜Žใ•ใ‚Œใ€ๆœฌ็–พๆ‚ฃใฏ่‡ชๅทฑๅ…็–ซๅๅฟœใซใ‚ˆใ‚‹็”ฒ็Šถ่…บใฎๆ…ขๆ€ง็‚Ž็—‡ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ๆ…ขๆ€ง็”ฒ็Šถ่…บ็‚Žใจๆฉ‹ๆœฌ็—…ใฏๅŒ็พฉ่ชžใจใ—ใฆไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅ›ฝ้š›็–พ็—…ๅˆ†้กž ICD10 ใงใฏๆฉ‹ๆœฌ็”ฒ็Šถ่…บ็‚Ž (Hashimotoโ€™s thyroiditis) ใจ่กจ่จ˜ใ•ใ‚Œใ€ใ“ใ‚ŒใŒๅญฆ่ก“็”จ่ชžใจใ—ใฆๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200335" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hashimoto disease"@en, "ๆฉ‹ๆœฌ็—…"@ja ; + rdfs:label "Hashimoto disease"@en, "ใฏใ—ใ‚‚ใจใณใ‚‡ใ†"@ja-Hira, "ๆฉ‹ๆœฌ็—…"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007699 ; + rdfs:subClassOf ; + skos:altLabel "Hashimotoโ€™s thyroiditis"@en ; + skos:closeMatch obo:MONDO_0007699 ; skos:prefLabel "ๆฉ‹ๆœฌ็—…"@ja . -:2200336 - :hasNotificationNumber "25" ; - terms:description "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Žใฏ็”ฒ็Šถ่…บ่…ซๅคงใŒใชใ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใซ้™ฅใฃใŸ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Žใงใ‚ใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚’ๆŒ‡ใ™ใ€Œ็‰น็™บๆ€ง็ฒ˜ๆถฒๆฐด่…ซใ€ใจๅŒ็พฉ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็ฒ˜ๆถฒๆฐด่…ซใฏ็šฎไธ‹ใ‚„้–“่ณชใซใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใŒๆฒˆ็€ใ—ใฆๅœง็—•ใ‚’ๆฎ‹ใ•ใชใ„ๆตฎ่…ซ(nonpitting edema)ใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200336" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Žใฏ็”ฒ็Šถ่…บ่…ซๅคงใŒใชใ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใซ้™ฅใฃใŸ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Žใงใ‚ใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚’ๆŒ‡ใ™ใ€Œ็‰น็™บๆ€ง็ฒ˜ๆถฒๆฐด่…ซใ€ใจๅŒ็พฉ่ชžใจใ—ใฆ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็ฒ˜ๆถฒๆฐด่…ซใฏ็šฎไธ‹ใ‚„้–“่ณชใซใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใŒๆฒˆ็€ใ—ใฆๅœง็—•ใ‚’ๆฎ‹ใ•ใชใ„ๆตฎ่…ซ(nonpitting edema)ใŒ็”Ÿใ˜ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200336" ; + dcterms:source ; a owl:Class ; - rdfs:label "Atrophic thyroiditis"@en, "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž"@ja ; + rdfs:label "Atrophic thyroiditis"@en, "ใ„ใ—ใ‚…ใใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใˆใ‚“"@ja-Hira, "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "primary myxedema"@en ; - skos:closeMatch mondo:MONDO_0005624 ; + rdfs:subClassOf ; + skos:altLabel "Primary myxedema"@en, "็‰น็™บๆ€ง็ฒ˜ๆถฒๆฐด่…ซ"@ja ; + skos:closeMatch obo:MONDO_0005624 ; skos:prefLabel "่Ž็ธฎๆ€ง็”ฒ็Šถ่…บ็‚Ž"@ja . -:2200337 - :hasNotificationNumber "27" ; - terms:description "ๅŽŸ็™บๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200337" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "ๅŽŸ็™บๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200337" ; + dcterms:source ; a owl:Class ; - rdfs:label "21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Other acquired hypothyroidism"@en ; + rdfs:label "21ใŠใ‚ˆใณ22ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใฆใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Other acquired hypothyroidism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "21ๅŠใณ22ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅพŒๅคฉๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200338 - :hasNotificationNumber "27" ; - terms:identifier "2200338" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200338" ; + dcterms:source ; a owl:Class ; - rdfs:label "radiation-induced hypothyroidism"@en, "ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:label "Radiation-induced hypothyroidism"@en, "ใปใ†ใ—ใ‚ƒใ›ใ‚“ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๆ”พๅฐ„็ทšๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200339 - :hasNotificationNumber "27" ; - terms:identifier "2200339" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200339" ; + dcterms:source ; a owl:Class ; - rdfs:label "drug-induced hypothyroidism"@en, "่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:label "Drug-induced hypothyroidism"@en, "ใ‚„ใใ–ใ„ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "่–ฌๅ‰คๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200340 - :hasNotificationNumber "27" ; - terms:identifier "2200340" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200340" ; + dcterms:source ; a owl:Class ; - rdfs:label "central hypothyroidism"@en, "ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:label "Central hypothyroidism"@en, "ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016410 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016410 ; skos:prefLabel "ไธญๆžขๆ€ง็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200341 - :hasNotificationNumber "32" ; - terms:description "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡(Syndrome of Resistance to Thyroid Hormone, ไปฅไธ‹RTH)ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967 ๅนดใ€Refetoff ใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ1ใ€‚ใ“ใฎใ“ใจใ‹ใ‚‰ใ€ๆœฌ็—‡ใฏโ€œใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคโ€ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๅฟœ็ญ”ๆ€งใŒๆธ›ๅผฑใ™ใ‚‹ๅŽŸๅ› ใจใ—ใฆใฏใ€โ‘  ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็ดฐ่ƒžๅ†…ใธใฎๅ–ใ‚Š่พผใฟใ€โ‘ก T4 ใ‹ใ‚‰ๆดปๆ€งๅž‹ใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹T3 ใธใฎ่ปขๆ›ใ€โ‘ข T3 ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“(TR)ใธใฎ็ตๅˆใจใ“ใ‚Œใซ็ถšใๆจ™็š„้บไผๅญใฎ่ปขๅ†™่ชฟ็ฏ€ใ€ใฎใ„ใšใ‚Œใ‹ใฎใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใŒ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ๏ผ“ ใคใฎใ‚นใƒ†ใƒƒใƒ—ใใ‚Œใžใ‚Œใฎ็•ฐๅธธ็—‡ใŒๆ—ขใซๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€ใ€Œ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๆ„Ÿๅ—ๆ€งไฝŽไธ‹็—‡ๅ€™็พคใ€ใจ็ท็งฐใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกRTHใฏใ€ใ‚นใƒ†ใƒƒใƒ—โ‘ข ใฎ้šœๅฎณใ€ใ™ใชใ‚ใกTRใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑ ๅž‹TR(TRฮฑ )ใจTRฮฒใฎ๏ผ’ ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85%ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ๆฎ‹ใ‚Š15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏใ„ใพใ ๆ˜Žใ‚‰ใ‹ใงใฏใชใ„ใŒใ€TRฮฒ้บ1ไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ๏ผˆ ้บไผๅญ็•ฐๅธธใ‚‚ๅซใ‚๏ผ‰ ใงTRฮฒๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚ŒใŸ็ตๆžœ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนด้ ƒใ‹ใ‚‰TRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ2ใ€‚"@ja ; - terms:identifier "2200341" ; - terms:source ; - a owl:Class ; - rdfs:label "Resistance to thyroid hormone"@en, "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "32" ; + dcterms:description "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡(Syndrome of Resistance to Thyroid Hormone, ไปฅไธ‹RTH)ใฏใ€็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๆจ™็š„่‡“ๅ™จใฎๅๅฟœๆ€งใŒๆธ›ๅผฑใ—ใฆใ„ใ‚‹ๅฎถๆ—ๆ€ง็—‡ๅ€™็พคใจใ—ใฆ1967 ๅนดใ€Refetoff ใ‚‰ใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ1ใ€‚ใ“ใฎใ“ใจใ‹ใ‚‰ใ€ๆœฌ็—‡ใฏโ€œใƒฌใƒ•ใ‚งใƒˆใƒ•็—‡ๅ€™็พคโ€ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใซๅฏพใ™ใ‚‹ๅฟœ็ญ”ๆ€งใŒๆธ›ๅผฑใ™ใ‚‹ๅŽŸๅ› ใจใ—ใฆใฏใ€โ‘  ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใฎ็ดฐ่ƒžๅ†…ใธใฎๅ–ใ‚Š่พผใฟใ€โ‘ก T4 ใ‹ใ‚‰ๆดปๆ€งๅž‹ใƒ›ใƒซใƒขใƒณใงใ‚ใ‚‹T3 ใธใฎ่ปขๆ›ใ€โ‘ข T3 ใฎ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๅ—ๅฎนไฝ“(TR)ใธใฎ็ตๅˆใจใ“ใ‚Œใซ็ถšใๆจ™็š„้บไผๅญใฎ่ปขๅ†™่ชฟ็ฏ€ใ€ใฎใ„ใšใ‚Œใ‹ใฎใ‚นใƒ†ใƒƒใƒ—ใŒ้šœๅฎณใ•ใ‚ŒใŸๅ ดๅˆใŒ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ๏ผ“ ใคใฎใ‚นใƒ†ใƒƒใƒ—ใใ‚Œใžใ‚Œใฎ็•ฐๅธธ็—‡ใŒๆ—ขใซๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€ใ€Œ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณๆ„Ÿๅ—ๆ€งไฝŽไธ‹็—‡ๅ€™็พคใ€ใจ็ท็งฐใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกRTHใฏใ€ใ‚นใƒ†ใƒƒใƒ—โ‘ข ใฎ้šœๅฎณใ€ใ™ใชใ‚ใกTRใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚TRใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹้บไผๅญใซใฏฮฑ ๅž‹TR(TRฮฑ )ใจTRฮฒใฎ๏ผ’ ใคใŒใ‚ใ‚‹ใŒใ€RTHๅฎถ็ณปใฎ็ด„85%ใซTRฮฒ้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ“ใจใ‹ใ‚‰ใ€RTHใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจๅŒ็พฉใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ๆฎ‹ใ‚Š15๏ผ…ใฎๅฎถ็ณปใซใŠใ‘ใ‚‹ๅŽŸๅ› ้บไผๅญใฏใ„ใพใ ๆ˜Žใ‚‰ใ‹ใงใฏใชใ„ใŒใ€TRฮฒ้บ1ไผๅญๅค‰็•ฐใ‚’ไผดใ†ๅฎถ็ณปใจๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ๅฎถ็ณปใจใฎ่‡จๅบŠ็—‡็Šถใฏๅ…จใๅŒบๅˆฅใŒใคใ‹ใชใ„ใ“ใจใ‹ใ‚‰ใ€ไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ๏ผˆ ้บไผๅญ็•ฐๅธธใ‚‚ๅซใ‚๏ผ‰ ใงTRฮฒๆฉŸ่ƒฝใŒ้šœๅฎณใ•ใ‚ŒใŸ็ตๆžœ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใชใŠใ€2012ๅนด้ ƒใ‹ใ‚‰TRฮฑๅค‰็•ฐใ‚’ไผดใ†็—‡ไพ‹ใŒ็›ธๆฌกใ„ใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€ใใฎ่‡จๅบŠ็—‡็ŠถใฏTRฮฒๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹RTHใจใฏๅคงใใ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใฃใŸ2ใ€‚"@ja ; + dcterms:identifier "NANDO:2200341" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Resistance to thyroid hormone"@en, "ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "RTH"@en, "Syndrome of Resistance to Thyroid Hormone"@en ; + skos:closeMatch obo:MONDO_0001328, obo:MONDO_0010131 ; skos:prefLabel "็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja . -:2200342 - :hasNotificationNumber "54" ; - terms:description "็”ฒ็Šถ่…บๅ†…ใซ็ต็ฏ€ใฎๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ่…บ่…ซๆง˜ใซๅข—ๆฎ–ใ‚’็คบใ™้ƒจๅˆ†๏ผŒ้Žๅฝขๆˆใ‚’็คบใ™้ƒจๅˆ†๏ผŒใŠใ‚ˆใณใปใจใ‚“ใฉๆญฃๅธธใฎ้ƒจๅˆ†ใŒๆททๅœจใ™ใ‚‹๏ผŽ็—…็†ๆ‰€่ฆ‹ใจใ—ใฆใฏ๏ผŒ่‚‰็œผ็š„ใซใฏๆ•ฐๅ€‹ใฎ็ต็ฏ€ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผŽ็ต็ฏ€ใฏใ—ใฐใ—ใฐๅ‡บ่ก€๏ผŒๅฃŠๆญป๏ผŒๅšข่ƒžๅฝขๆˆ๏ผŒ็ตๅˆ็น”ๅข—็”Ÿ๏ผŒ็Ÿณ็ฐๆฒˆ็€ใชใฉใฎไบŒๆฌก็š„ๅค‰ๅŒ–ใ‚’ไผดใ†๏ผŽ"@ja ; - terms:identifier "2200342" ; - terms:source ; + + nando:hasNotificationNumber "54" ; + dcterms:description "็”ฒ็Šถ่…บๅ†…ใซ็ต็ฏ€ใฎๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ่…บ่…ซๆง˜ใซๅข—ๆฎ–ใ‚’็คบใ™้ƒจๅˆ†๏ผŒ้Žๅฝขๆˆใ‚’็คบใ™้ƒจๅˆ†๏ผŒใŠใ‚ˆใณใปใจใ‚“ใฉๆญฃๅธธใฎ้ƒจๅˆ†ใŒๆททๅœจใ™ใ‚‹๏ผŽ็—…็†ๆ‰€่ฆ‹ใจใ—ใฆใฏ๏ผŒ่‚‰็œผ็š„ใซใฏๆ•ฐๅ€‹ใฎ็ต็ฏ€ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผŽ็ต็ฏ€ใฏใ—ใฐใ—ใฐๅ‡บ่ก€๏ผŒๅฃŠๆญป๏ผŒๅšข่ƒžๅฝขๆˆ๏ผŒ็ตๅˆ็น”ๅข—็”Ÿ๏ผŒ็Ÿณ็ฐๆฒˆ็€ใชใฉใฎไบŒๆฌก็š„ๅค‰ๅŒ–ใ‚’ไผดใ†๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200342" ; + dcterms:source ; a owl:Class ; - rdfs:label "Adenomatous goitre"@en, "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ"@ja ; + rdfs:label "Adenomatous goiter"@en, "ใ›ใ‚“ใ—ใ‚…ใ‚ˆใ†ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚…"@ja-Hira, "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Adenomatous goitre"@en ; skos:prefLabel "่…บ่…ซๆง˜็”ฒ็Šถ่…บ่…ซ"@ja . -:2200343 - :hasNotificationNumber "78" ; - terms:description "ๅŽŸ็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใฎ่‡ชๅพ‹็š„ใช้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)่ก€็—‡ใ€้ชจไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บใฎ่…บ่…ซใซใ‚ˆใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€้Žๅฝขๆˆใ€็™Œใซใ‚ˆใฃใฆใ‚‚ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚่…ŽๆฉŸ่ƒฝใŒๆญฃๅธธใง้ซ˜Ca่ก€็—‡ใจPTHใฎไธŠๆ˜‡ใจใ„ใ†ไบŒใคใฎ็Šถๆ…‹ใŒใ‚ใ‚Šใ€้ซ˜Caๅฐฟ็—‡ใŒใ‚ใ‚Œใฐใ€ๆœฌ็—‡ใฎๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200343" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:description "ๅŽŸ็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใฎ่‡ชๅพ‹็š„ใช้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ (Ca)่ก€็—‡ใ€้ชจไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บใฎ่…บ่…ซใซใ‚ˆใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€้Žๅฝขๆˆใ€็™Œใซใ‚ˆใฃใฆใ‚‚ๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚่…ŽๆฉŸ่ƒฝใŒๆญฃๅธธใง้ซ˜Ca่ก€็—‡ใจPTHใฎไธŠๆ˜‡ใจใ„ใ†ไบŒใคใฎ็Šถๆ…‹ใŒใ‚ใ‚Šใ€้ซ˜Caๅฐฟ็—‡ใŒใ‚ใ‚Œใฐใ€ๆœฌ็—‡ใฎๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200343" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyperparathyroidism"@en, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; + rdfs:label "Hyperparathyroidism"@en, "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001741 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001741 ; skos:prefLabel "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja . -:2200344 - :hasNotificationNumber "80" ; - terms:description "ๅ‰ฏ็”ฒ็Šถ่…บใฎ็™บ็”ŸใŒใชใ„ๅ ดๅˆใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใŒใ€ๆญฃๅธธใงใ‚‚ๅ‰ฏ็”ฒ็Šถ่…บใฏๅฐใ•ใใ€็”ปๅƒใงๆŒ‡ๆ‘˜ใ—ใŒใŸใใ€ๆฌ ๆใ—ใฆใ„ใ‚‹ใจ็ขบๅฎŸใซ็”ปๅƒ่จบๆ–ญใงใใชใ„ใ€‚่ก€ไธญใฎๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใŒๆธฌๅฎšๆ„Ÿๅบฆไปฅไธ‹ใซใชใ‚Šใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š่‘—ใ—ใ„ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ†ใ€‚็”ฒ็Šถ่…บๅ…จๆ‘˜ๅ‡บ่ก“ๆ™‚ใซๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๆฎ‹ๅญ˜ใ•ใ›ใชใ‘ใ‚Œใฐใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆใฎ็Šถๆ…‹ใจใชใ‚‹ใŒใ€้€šๅธธใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใฎไธ€้ƒจใ‚’็•ฐๆ‰€ๆ€งใซ็งปๆคใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200344" ; - terms:source ; + + nando:hasNotificationNumber "80" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บใฎ็™บ็”ŸใŒใชใ„ๅ ดๅˆใ‚’ๆ„ๅ‘ณใ™ใ‚‹ใŒใ€ๆญฃๅธธใงใ‚‚ๅ‰ฏ็”ฒ็Šถ่…บใฏๅฐใ•ใใ€็”ปๅƒใงๆŒ‡ๆ‘˜ใ—ใŒใŸใใ€ๆฌ ๆใ—ใฆใ„ใ‚‹ใจ็ขบๅฎŸใซ็”ปๅƒ่จบๆ–ญใงใใชใ„ใ€‚่ก€ไธญใฎๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณใŒๆธฌๅฎšๆ„Ÿๅบฆไปฅไธ‹ใซใชใ‚Šใ€็”ŸๅพŒๆ—ฉๆœŸใ‚ˆใ‚Š่‘—ใ—ใ„ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ†ใ€‚็”ฒ็Šถ่…บๅ…จๆ‘˜ๅ‡บ่ก“ๆ™‚ใซๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๆฎ‹ๅญ˜ใ•ใ›ใชใ‘ใ‚Œใฐใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆใฎ็Šถๆ…‹ใจใชใ‚‹ใŒใ€้€šๅธธใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใฎไธ€้ƒจใ‚’็•ฐๆ‰€ๆ€งใซ็งปๆคใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200344" ; + dcterms:source ; a owl:Class ; - rdfs:label "Parathyroid gland defect"@en, "ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡"@ja ; + rdfs:label "Parathyroid gland defect"@en, "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅ‰ฏ็”ฒ็Šถ่…บๆฌ ๆ็—‡"@ja . -:2200345 - :hasNotificationNumber "79" ; - terms:description "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใฎๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹PTHๅˆ†ๆณŒไธๅ…จๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ€ๆจ™็š„่‡“ๅ™จใฎPTHใซๅฏพใ™ใ‚‹ไธๅฟœๆ€งใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกๅŽŸๅ› ใฎไธๆ˜Žใชใ‚‚ใฎใ‚’็‰น็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚ˆใถใŒใ€่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใŸๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใŠใ‚ˆใณ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฎๆฒป็™‚ใฎใŸใ‚ใซใ€ๅ‰ฏ็”ฒ็Šถ่…บใ‚ใ‚‹ใ„ใฏๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๅซใ‚€็”ฒ็Šถ่…บใ‚’ๆ‘˜้™คใ—ใŸๅ ดๅˆใซใ€ๅŒปๅŽŸๆ€งใซๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚PTHๅˆ†ๆณŒใฏ่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚Š่ชฟ็ฏ€ใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใฎๆ„Ÿ็Ÿฅใ‚ทใ‚นใƒ†ใƒ ใฎ้Žๅบฆใฎๆ„Ÿๅ—ๆ€งใฏPTHๅˆ†ๆณŒไฝŽไธ‹ใ‚’ไผดใ„ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡้กžไผผใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200345" ; - terms:source ; + + nando:hasNotificationNumber "79" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฏใ€ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ๏ผˆPTH๏ผ‰ใฎๅˆ†ๆณŒไธๅ…จใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹PTHๅˆ†ๆณŒไธๅ…จๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ€ๆจ™็š„่‡“ๅ™จใฎPTHใซๅฏพใ™ใ‚‹ไธๅฟœๆ€งใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกๅŽŸๅ› ใฎไธๆ˜Žใชใ‚‚ใฎใ‚’็‰น็™บๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚ˆใถใŒใ€่ฒฌไปป้บไผๅญใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใŸๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใŠใ‚ˆใณ็”ฒ็Šถ่…บๆฉŸ่ƒฝไบข้€ฒ็—‡ใฎๆฒป็™‚ใฎใŸใ‚ใซใ€ๅ‰ฏ็”ฒ็Šถ่…บใ‚ใ‚‹ใ„ใฏๅ‰ฏ็”ฒ็Šถ่…บใ‚’ๅซใ‚€็”ฒ็Šถ่…บใ‚’ๆ‘˜้™คใ—ใŸๅ ดๅˆใซใ€ๅŒปๅŽŸๆ€งใซๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚PTHๅˆ†ๆณŒใฏ่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅ€คใซใ‚ˆใ‚Š่ชฟ็ฏ€ใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ใ“ใฎๆ„Ÿ็Ÿฅใ‚ทใ‚นใƒ†ใƒ ใฎ้Žๅบฆใฎๆ„Ÿๅ—ๆ€งใฏPTHๅˆ†ๆณŒไฝŽไธ‹ใ‚’ไผดใ„ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡้กžไผผใฎ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200345" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypoparathyroidism"@en, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001220, mondo:MONDO_0015895 ; + rdfs:label "Hypoparathyroidism"@en, "ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001220, obo:MONDO_0015895 ; skos:prefLabel "ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200346 - :hasNotificationNumber "35" ; - terms:description "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค(Autoimmune polyglandular syndrome: APS)ใจใฏใ€่‡ชๅทฑๅ…็–ซๆ€งใฎ็—…ๆ…‹ใซใ‚ˆใ‚Š่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒๅ™จๅฎ˜ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎๅž‹ใซ่‡จๅบŠๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ASP Iๅž‹ใฏ,ๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ฒ˜่†œ็šฎ่†šใ‚ซใƒณใ‚ธใƒ€็—‡ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅ‰ฏ่…Žไธๅ…จ(ใ‚ขใ‚ธใ‚ฝใƒณ็—…)ใ‚’3ๅพดใจใ™ใ‚‹ใ€‚ๅˆฅ็งฐใจใ—ใฆAutoimmune polyendocrinopathy-candidiasis-ectodermal syndrome๏ผˆAPECED๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200346" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค(Autoimmune polyglandular syndrome: APS)ใจใฏใ€่‡ชๅทฑๅ…็–ซๆ€งใฎ็—…ๆ…‹ใซใ‚ˆใ‚Š่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒๅ™จๅฎ˜ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ไธ€็พคใฎ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎๅž‹ใซ่‡จๅบŠๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ASP Iๅž‹ใฏ,ๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็ฒ˜่†œ็šฎ่†šใ‚ซใƒณใ‚ธใƒ€็—‡ใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅ‰ฏ่…Žไธๅ…จ(ใ‚ขใ‚ธใ‚ฝใƒณ็—…)ใ‚’3ๅพดใจใ™ใ‚‹ใ€‚ๅˆฅ็งฐใจใ—ใฆAutoimmune polyendocrinopathy-candidiasis-ectodermal syndrome๏ผˆAPECED๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200346" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune polyendocrinopathy type 1"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹"@ja ; + rdfs:label "Autoimmune polyendocrinopathy type 1"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 1ใŒใŸ"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค1ๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009411 ; - skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 1ๅž‹"@ja . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009411 ; + skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค1ๅž‹"@ja . -:2200347 - :hasNotificationNumber "36" ; - terms:description "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œ๏ผŒ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ตทๅ› ใ—ใŸๅ†…ๅˆ†ๆณŒ่…บใ‚’ๅซใ‚€่ค‡ๆ•ฐ็ต„็น”ใฎๆฉŸ่ƒฝ้šœๅฎณใฎ็‰นๅพด็š„ใช็ต„ๅˆใ›ใงๅฎš็พฉใ•ใ‚Œใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค2ๅž‹ใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡(Addison็—…)๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃ(Basedow็—…๏ผŒๆฉ‹ๆœฌ็—…)๏ผŒ1ๅž‹็ณ–ๅฐฟ็—…๏ผŒๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผŒ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผŒใ‚ปใƒชใ‚ขใƒƒใ‚ฏ็—…ใฎใ†ใก2็จฎ้กžไปฅไธŠใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใพใŸ๏ผŒ2ๅž‹ใ‚’ใ•ใ‚‰ใซไธ‰ใคใซ็ดฐๅˆ†ใ™ใ‚‹็‹ญ็พฉใฎๅˆ†้กžใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚็‹ญ็พฉใฎๅˆ†้กžใงใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใ‚„๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใชใฉใฎ่‡ชๅทฑๅ…็–ซๆ€งๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ2ๅž‹๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใซๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ไปฅๅค–ใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ3ๅž‹๏ผŒ1๏ฝž3ๅž‹ใซ่ฉฒๅฝ“ใ—ใชใ„่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹ๅ ดๅˆใซ4ๅž‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹.็—‡ๅ€™็พคๅใ‹ใ‚‰ใฏๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใซ้™ๅฎšใ•ใ‚Œใ‚‹ๅฐ่ฑกใ‚’ๅ—ใ‘ใ‚‹ใŒ๏ผŒๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ็™ฝๆ–‘๏ผŒ็ฆฟ้ ญ๏ผŒ็ดซ่†œ็‚Ž๏ผŒๆ‚ชๆ€ง่ฒง่ก€ใชใฉๅคšใใฎ้žๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ†ใ‚‹ใ€‚ๆœฌใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏๆททๅŒใ‚’้ฟใ‘ใ‚‹ใŸใ‚๏ผŒ็ตฑไธ€ใ—ใฆ็‹ญ็พฉใฎๅˆ†้กžใ‚’ไฝฟ็”จใ™ใ‚‹ใ“ใจใจใ™ใ‚‹."@ja ; - terms:identifier "2200347" ; - terms:source ; + + nando:hasNotificationNumber "36" ; + dcterms:description "ๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œ๏ผŒ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใซ่ตทๅ› ใ—ใŸๅ†…ๅˆ†ๆณŒ่…บใ‚’ๅซใ‚€่ค‡ๆ•ฐ็ต„็น”ใฎๆฉŸ่ƒฝ้šœๅฎณใฎ็‰นๅพด็š„ใช็ต„ๅˆใ›ใงๅฎš็พฉใ•ใ‚Œใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅบƒ็พฉใฎๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พค2ๅž‹ใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡(Addison็—…)๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃ(Basedow็—…๏ผŒๆฉ‹ๆœฌ็—…)๏ผŒ1ๅž‹็ณ–ๅฐฟ็—…๏ผŒๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผŒ้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผŒใ‚ปใƒชใ‚ขใƒƒใ‚ฏ็—…ใฎใ†ใก2็จฎ้กžไปฅไธŠใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ใพใŸ๏ผŒ2ๅž‹ใ‚’ใ•ใ‚‰ใซไธ‰ใคใซ็ดฐๅˆ†ใ™ใ‚‹็‹ญ็พฉใฎๅˆ†้กžใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚็‹ญ็พฉใฎๅˆ†้กžใงใฏ๏ผŒๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใ‚„๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใชใฉใฎ่‡ชๅทฑๅ…็–ซๆ€งๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ2ๅž‹๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็–พๆ‚ฃใซๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ไปฅๅค–ใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใŸๅ ดๅˆใซ3ๅž‹๏ผŒ1๏ฝž3ๅž‹ใซ่ฉฒๅฝ“ใ—ใชใ„่ค‡ๆ•ฐใฎๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹ๅ ดๅˆใซ4ๅž‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹.็—‡ๅ€™็พคๅใ‹ใ‚‰ใฏๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใซ้™ๅฎšใ•ใ‚Œใ‚‹ๅฐ่ฑกใ‚’ๅ—ใ‘ใ‚‹ใŒ๏ผŒๅคš่…บๆ€ง่‡ชๅทฑๅ…็–ซ็—‡ๅ€™็พคใฏ็™ฝๆ–‘๏ผŒ็ฆฟ้ ญ๏ผŒ็ดซ่†œ็‚Ž๏ผŒๆ‚ชๆ€ง่ฒง่ก€ใชใฉๅคšใใฎ้žๅ†…ๅˆ†ๆณŒ่…บ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ†ใ‚‹ใ€‚ๆœฌใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏๆททๅŒใ‚’้ฟใ‘ใ‚‹ใŸใ‚๏ผŒ็ตฑไธ€ใ—ใฆ็‹ญ็พฉใฎๅˆ†้กžใ‚’ไฝฟ็”จใ™ใ‚‹ใ“ใจใจใ™ใ‚‹."@ja ; + dcterms:identifier "NANDO:2200347" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune polyendocrinopathy type 2"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹"@ja ; + rdfs:label "Autoimmune polyendocrinopathy type 2"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใชใ„ใถใ‚“ใดใคใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ 2ใŒใŸ"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010012 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010012 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅคšๅ†…ๅˆ†ๆณŒ่…บ็—‡ๅ€™็พค 2ๅž‹"@ja . -:2200348 - :hasNotificationNumber "8" ; - terms:description "Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใฎๅพดๅ€™ใฎ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ€ใƒชใƒณๅ€คใซ็•ฐๅธธใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃใ€‚Iaๅž‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅฎถ็ณปใฎไธญใซๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200348" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใฎๅพดๅ€™ใฎ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€่ก€ๆธ…ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ€ใƒชใƒณๅ€คใซ็•ฐๅธธใ‚’ๅ‘ˆใ•ใชใ„็–พๆ‚ฃใ€‚Iaๅž‹ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎๅฎถ็ณปใฎไธญใซๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200348" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pseudopseudohypoparathyroidism"@en, "ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:label "Pseudopseudohypoparathyroidism"@en, "ใŽใ›ใ„ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012912 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012912 ; skos:prefLabel "ๅฝๆ€งๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200349 - :hasNotificationNumber "9" ; - terms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใซๅฏพใ—ใฆๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€PTHใŒๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใŒๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’PHPIaใจๅ‘ผใถใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IbใซใŠใ„ใฆใฏใ€AHOๅพดๅ€™ใฏไผดใ‚ใšใ€PTHใฎๆŠตๆŠ—ๆ€งใฏใปใผ่…Ž่‡“ใซ้™ๅฑ€ใ—ใฆใ„ใ‚‹ใ€‚IIๅž‹ใฏใ€cAMPใฎๅๅฟœใŒใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ไฟƒ้€ฒใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—…ๅž‹ใงใ‚ใ‚‹ใŒใ€้žๅธธใซ็จ€ใงใ‚ใ‚Šใ€ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200349" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บใƒ›ใƒซใƒขใƒณ(PTH)ใซๅฏพใ—ใฆๆŠตๆŠ—ๆ€งใ‚’็คบใ—ใ€PTHใŒๅˆ†ๆณŒใ•ใ‚Œใฆใ„ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€้ซ˜ใƒชใƒณ่ก€็—‡ใชใฉใ€ๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅŒใ˜ใ‚ˆใ†ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใซ่‚ฅๆบ€ใ€ไฝŽ่บซ้•ทใ€็•ฐๆ‰€ๆ€ง็šฎไธ‹้ชจๅŒ–ใ€็ŸญๆŒ‡็—‡ใ€็ฌฌ4ไธญๆ‰‹้ชจใฎ็Ÿญ็ธฎใ€ๅ††ๅฝข้ก”่ฒŒใ€็Ÿฅ่ƒฝ้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹Albrightใฎ้บไผๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆAHO๏ผ‰ใŒๅˆไฝตใ™ใ‚‹็—…ๅž‹ใ‚’PHPIaใจๅ‘ผใถใ€‚ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡IbใซใŠใ„ใฆใฏใ€AHOๅพดๅ€™ใฏไผดใ‚ใšใ€PTHใฎๆŠตๆŠ—ๆ€งใฏใปใผ่…Ž่‡“ใซ้™ๅฑ€ใ—ใฆใ„ใ‚‹ใ€‚IIๅž‹ใฏใ€cAMPใฎๅๅฟœใŒใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ไฟƒ้€ฒใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—…ๅž‹ใงใ‚ใ‚‹ใŒใ€้žๅธธใซ็จ€ใงใ‚ใ‚Šใ€ๅŽŸๅ› ใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200349" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pseudohypoparathyroidism"@en, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019992 ; + rdfs:label "Pseudohypoparathyroidism"@en, "ใŽใ›ใ„ใตใใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019992 ; skos:prefLabel "ๅฝๆ€งๅ‰ฏ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200350 - :hasNotificationNumber "11" ; - terms:description "่ฆ–ๅบŠไธ‹้ƒจๅฎคๅ‚ๆ ธใง็”ฃ็”Ÿใ•ใ‚Œใ‚‹CRHใฏไธ‹ๅž‚ไฝ“้–€่„ˆใ‚’็ตŒใฆไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซ่‡ณใ‚Šใ€ACTH็ดฐ่ƒžใซๅƒใ„ใฆACTHใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ACTHใฏๅ…จ่บซใซๅˆ†ๆณŒใ•ใ‚Œๅ‰ฏ่…Ž็šฎ่ณชใซไฝœ็”จใ—ใฆใ‚ณใƒซใƒใ‚พใƒผใƒซใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒใ™ใ€‚ๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ่ก€ไธญใ‚ณใƒซใƒใ‚พใƒผใƒซใฏ่ฆ–ๅบŠไธ‹้ƒจ๏ผไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซไฝœ็”จใ—CRHใจACTHใฎๅˆ†ๆณŒใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ใƒใ‚ฌใƒ†ใ‚ฃใƒ–ใƒ•ใ‚ฃใƒผใƒ‰ใƒใƒƒใ‚ฏใจใ„ใ†ใ€‚ๅ‰ฏ่…Žใ‹ใ‚‰ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๆ…ขๆ€ง็š„ใซๅˆ†ๆณŒ้Žๅ‰ฐใซใชใ‚Šใ€็‰น็•ฐ็š„ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ‚’ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใฎๅ ดๅˆACTHๅˆ†ๆณŒใŒ้Žๅ‰ฐใจใชใ‚ŠไบŒๆฌก็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๅข—ๅŠ ใ™ใ‚‹ๅ ดๅˆใ‚’ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ„ใ€ๅ‰ฏ่…Žใ‹ใ‚‰่‡ชๅพ‹็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚’ACTH้žไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใพใŸใฏๅ‰ฏ่…Žๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซใฏใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTHใŒ่‡ชๅพ‹็š„ใซ้Žๅ‰ฐๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ่…ซ็˜ใ‹ใ‚‰ACTHใŒ้Žๅ‰ฐใซ็”ฃ็”Ÿใƒปๅˆ†ๆณŒใ•ใ‚Œใ‚‹็•ฐๆ‰€ๆ€งACTH็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใซใ›ใ‚ˆใ€่ฆ–ๅบŠไธ‹้ƒจCRHๅˆ†ๆณŒใฏๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใฏๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡ๅ€™ใ‚’็คบใ•ใšใ€ไธ‹ๅž‚ไฝ“่…ซ็˜ใŒ็–‘ใ‚ใ‚Œใ€ไบŒๆฌก็š„ใช่€็ณ–่ƒฝ็•ฐๅธธใ‚„้ซ˜่ก€ๅœงใฎ็ฒพๆŸปใฎ้€”ไธญใงACTH-ใ‚ณใƒซใƒใ‚พใƒผใƒซ็ณปใฎ่‡ชๅพ‹็š„ใชๅˆ†ๆณŒ็•ฐๅธธใŒใฟใคใ‹ใ‚‹ใ‚ตใƒ–ใ‚ฏใƒชใƒ‹ใ‚ซใƒซใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจใ„ใ†็–พๆ‚ฃๆฆ‚ๅฟตใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใฏ็—…็†ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็ตŒ้ŽใŒ้•ทๅผ•ใใจ่‡จๅบŠ็š„ใซใฏๆฒป็™‚ใŒ้›ฃใ—ใๆ‚ชๆ€งใซไผผใฆใ„ใ‚‹ใจใ„ใˆใ‚‹ใ€‚"@ja ; - terms:identifier "2200350" ; - terms:source ; - a owl:Class ; - rdfs:label "Cushing disease"@en, "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Cushing็—…"@ja ; - skos:closeMatch mondo:MONDO_0003009, mondo:MONDO_0009050, mondo:MONDO_0018912 ; + + nando:hasNotificationNumber "11" ; + dcterms:description "่ฆ–ๅบŠไธ‹้ƒจๅฎคๅ‚ๆ ธใง็”ฃ็”Ÿใ•ใ‚Œใ‚‹CRHใฏไธ‹ๅž‚ไฝ“้–€่„ˆใ‚’็ตŒใฆไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซ่‡ณใ‚Šใ€ACTH็ดฐ่ƒžใซๅƒใ„ใฆACTHใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ACTHใฏๅ…จ่บซใซๅˆ†ๆณŒใ•ใ‚Œๅ‰ฏ่…Ž็šฎ่ณชใซไฝœ็”จใ—ใฆใ‚ณใƒซใƒใ‚พใƒผใƒซใฎๅˆๆˆใจๅˆ†ๆณŒใ‚’ไฟƒใ™ใ€‚ๅˆ†ๆณŒใŒไบข้€ฒใ—ใŸ่ก€ไธญใ‚ณใƒซใƒใ‚พใƒผใƒซใฏ่ฆ–ๅบŠไธ‹้ƒจ๏ผไธ‹ๅž‚ไฝ“ๅ‰่‘‰ใซไฝœ็”จใ—CRHใจACTHใฎๅˆ†ๆณŒใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ใƒใ‚ฌใƒ†ใ‚ฃใƒ–ใƒ•ใ‚ฃใƒผใƒ‰ใƒใƒƒใ‚ฏใจใ„ใ†ใ€‚ๅ‰ฏ่…Žใ‹ใ‚‰ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๆ…ขๆ€ง็š„ใซๅˆ†ๆณŒ้Žๅ‰ฐใซใชใ‚Šใ€็‰น็•ฐ็š„ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹็Šถๆ…‹ใ‚’ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ใ“ใฎๅ ดๅˆACTHๅˆ†ๆณŒใŒ้Žๅ‰ฐใจใชใ‚ŠไบŒๆฌก็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใŒๅข—ๅŠ ใ™ใ‚‹ๅ ดๅˆใ‚’ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ„ใ€ๅ‰ฏ่…Žใ‹ใ‚‰่‡ชๅพ‹็š„ใซใ‚ณใƒซใƒใ‚พใƒผใƒซใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚’ACTH้žไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใพใŸใฏๅ‰ฏ่…Žๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใจใ„ใ†ใ€‚ACTHไพๅญ˜ๆ€งใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซใฏใ€ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ACTHใŒ่‡ชๅพ‹็š„ใซ้Žๅ‰ฐๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ่…ซ็˜ใ‹ใ‚‰ACTHใŒ้Žๅ‰ฐใซ็”ฃ็”Ÿใƒปๅˆ†ๆณŒใ•ใ‚Œใ‚‹็•ฐๆ‰€ๆ€งACTH็—‡ๅ€™็พคใŒใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใซใ›ใ‚ˆใ€่ฆ–ๅบŠไธ‹้ƒจCRHๅˆ†ๆณŒใฏๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใฏๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡ๅ€™ใ‚’็คบใ•ใšใ€ไธ‹ๅž‚ไฝ“่…ซ็˜ใŒ็–‘ใ‚ใ‚Œใ€ไบŒๆฌก็š„ใช่€็ณ–่ƒฝ็•ฐๅธธใ‚„้ซ˜่ก€ๅœงใฎ็ฒพๆŸปใฎ้€”ไธญใงACTH-ใ‚ณใƒซใƒใ‚พใƒผใƒซ็ณปใฎ่‡ชๅพ‹็š„ใชๅˆ†ๆณŒ็•ฐๅธธใŒใฟใคใ‹ใ‚‹ใ‚ตใƒ–ใ‚ฏใƒชใƒ‹ใ‚ซใƒซใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใจใ„ใ†็–พๆ‚ฃๆฆ‚ๅฟตใŒๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใฏ็—…็†ๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใŒใ€็ตŒ้ŽใŒ้•ทๅผ•ใใจ่‡จๅบŠ็š„ใซใฏๆฒป็™‚ใŒ้›ฃใ—ใๆ‚ชๆ€งใซไผผใฆใ„ใ‚‹ใจใ„ใˆใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200350" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cushing disease"@en, "ใใฃใ—ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Cushing's Disease"@en, "Cushing็—…"@ja ; + skos:closeMatch obo:MONDO_0009050 ; skos:prefLabel "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…"@ja . -:2200351 - :hasNotificationNumber "10" ; - terms:description "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ็ต„็น”ใซใฆACTHใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚’ๅˆบๆฟ€ใ—ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ‚’ๅผ•ใ่ถŠใ™ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ใพใ‚ŒใซACTHๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ็•ฐๅธธ(CRH)ใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200351" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไธ‹ๅž‚ไฝ“ไปฅๅค–ใฎ็ต„็น”ใซใฆACTHใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚’ๅˆบๆฟ€ใ—ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใ‚’ๅผ•ใ่ถŠใ™ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚ใพใ‚ŒใซACTHๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒ็•ฐๅธธ(CRH)ใซใ‚ˆใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200351" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ectopic ACTH syndrome"@en, "็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค"@ja ; + rdfs:label "Ectopic ACTH syndrome"@en, "ใ„ใ—ใ‚‡ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใ•ใ‚“ใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ACTH็”ฃ็”Ÿ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0043472 ; + rdfs:subClassOf ; + skos:altLabel "็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0043472 ; skos:prefLabel "็•ฐๆ‰€ๆ€งๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ็—‡ๅ€™็พค"@ja . -:2200352 - :hasNotificationNumber "12" ; - terms:description "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž่…บ่…ซใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200352" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž่…บ่…ซใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200352" ; + dcterms:source ; a owl:Class ; - rdfs:label "Adrenal adenoma"@en, "ๅ‰ฏ่…Ž่…บ่…ซ"@ja ; + rdfs:label "Adrenal adenoma"@en, "ใตใใ˜ใ‚“ใ›ใ‚“ใ—ใ‚…"@ja-Hira, "ๅ‰ฏ่…Ž่…บ่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003924 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003924 ; skos:prefLabel "ๅ‰ฏ่…Ž่…บ่…ซ"@ja . -:2200353 - :hasNotificationNumber "13" ; - terms:description "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ็—‡ใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200353" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใซใจใ‚‚ใชใ„ใ€็ณ–ไปฃ่ฌใ€่„‚่ณชไปฃ่ฌใ€ๅพช็’ฐใฎ็•ฐๅธธใ€่›‹็™ฝ็•ฐๅŒ–ใ€ๅ…็–ซๅŠ›ไฝŽไธ‹ใ‚’ใใŸใ™็Šถๆ…‹ใŒใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฏๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็™Œใ€ๅ‰ฏ่…Ž้Žๅฝขๆˆใ‹ใ‚‰ใฎ่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTH้žไพๅญ˜ๆ€งใจACTH็”ฃ็”Ÿไธ‹ๅž‚ไฝ“่…บ่…ซใ‚„็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ่…บ่…ซใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ACTHไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ็—‡ใซใ‚ˆใ‚‹่‡ชๅพ‹ๆ€งใ‚ณใƒซใƒใ‚พใƒผใƒซๅˆ†ๆณŒใซใ‚ˆใ‚‹ใ‚‚ใฎใŒๆœฌ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200353" ; + dcterms:source ; a owl:Class ; - rdfs:label "ACTH-independent macronodular adrenal hyperplasia"@en, "ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020735 ; + rdfs:label "ACTH-independent macronodular adrenal hyperplasia"@en, "ใตใใ˜ใ‚“ใฒใ—ใคใ‘ใฃใ›ใคใ›ใ„ใ‹ใ‘ใ„ใ›ใ„"@ja-Hira, "ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009049 ; skos:prefLabel "ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆ"@ja . -:2200354 - :hasNotificationNumber "14" ; - terms:description "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฎใ†ใกใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใ€็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พคใ€ๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200354" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใฎใ†ใกใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—…ใ€็•ฐๆ‰€ๆ€งACTH็”ฃ็”Ÿ็—‡ๅ€™็พคใ€ๅ‰ฏ่…Ž่…บ่…ซใ€ๅ‰ฏ่…Ž็šฎ่ณช็ต็ฏ€ๆ€ง้Žๅฝขๆˆใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200354" ; + dcterms:source ; a owl:Class ; - rdfs:label "33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค"@ja, "Cushing syndrome"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003009, mondo:MONDO_0009050, mondo:MONDO_0018912 ; + rdfs:label "33ใ‹ใ‚‰36ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใฃใ—ใ‚“ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค"@ja, "Other Cushing syndrome"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "33ใ‹ใ‚‰36ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พค"@ja . -:2200355 - :hasNotificationNumber "83" ; - terms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎACTHๅˆ†ๆณŒใŒใ€ไธ‹ๅž‚ไฝ“ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ใ‚‹ใ„ใฏใ•ใ‚‰ใซไธŠไฝใฎไธญๆžขใฎๅ•้กŒใซใ‚ˆใ‚Šใ€้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใ€‚ๆ…ขๆ€งใฎACTHๅˆ†ๆณŒไธๅ…จใงใฏใ€ๅ‰ฏ่…Ž็šฎ่ณชใฏ่Ž็ธฎ็Šถใจใชใ‚Šใ€ๆฉŸ่ƒฝใฎไฝŽไธ‹ใ‚’ๆ‹›ใใŸใ‚ใ€ไบŒๆฌกๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚‚ใ„ใ†ใ€‚"@ja ; - terms:identifier "2200355" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:description "ไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎACTHๅˆ†ๆณŒใŒใ€ไธ‹ๅž‚ไฝ“ใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ใ‚‹ใ„ใฏใ•ใ‚‰ใซไธŠไฝใฎไธญๆžขใฎๅ•้กŒใซใ‚ˆใ‚Šใ€้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹็Šถๆ…‹ใ‚’ๆŒ‡ใ™ใ€‚ๆ…ขๆ€งใฎACTHๅˆ†ๆณŒไธๅ…จใงใฏใ€ๅ‰ฏ่…Ž็šฎ่ณชใฏ่Ž็ธฎ็Šถใจใชใ‚Šใ€ๆฉŸ่ƒฝใฎไฝŽไธ‹ใ‚’ๆ‹›ใใŸใ‚ใ€ไบŒๆฌกๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใ‚‚ใ„ใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200355" ; + dcterms:source ; a owl:Class ; - rdfs:label "Isolated ACTH deficiency"@en, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Isolated ACTH deficiency"@en, "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใŸใ‚“ใฉใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "ACTHๅ˜็‹ฌๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0008720 ; + skos:closeMatch obo:MONDO_0016042 ; skos:prefLabel "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณๅ˜็‹ฌๆฌ ๆ็—‡"@ja . -:2200356 - :hasNotificationNumber "84" ; - terms:description "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocortocotropin)ใฎๅˆบๆฟ€ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚ˆใ‚Š็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใ€ๅ‰ฏ่…Žไธๅ…จใ‚’่ตทใ“ใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200356" ; - terms:source ; + + nando:hasNotificationNumber "84" ; + dcterms:description "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocortocotropin)ใฎๅˆบๆฟ€ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅ‰ฏ่…Ž็šฎ่ณชใ‚ˆใ‚Š็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใ€ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎๅˆ†ๆณŒใŒ้šœๅฎณใ•ใ‚Œใ€ๅ‰ฏ่…Žไธๅ…จใ‚’่ตทใ“ใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200356" ; + dcterms:source ; a owl:Class ; - rdfs:label "ACTH unresponsiveness"@en, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ACTHไธๅฟœ็—‡"@ja ; + rdfs:label "ACTH unresponsiveness"@en, "ใตใใ˜ใ‚“ใฒใ—ใคใ—ใ’ใใปใ‚‹ใ‚‚ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ACTHไธๅฟœ็—‡"@ja, "Adrenocorticotropic hormone insensitivity"@en, "Adrenocorticotropic hormone unresponsiveness"@en, "Adrenocorticotropin unresponsiveness"@en ; skos:prefLabel "ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณไธๅฟœ็—‡"@ja . -:2200357 - :hasNotificationNumber "82" ; - terms:description "ๅ‰ฏ่…Ž็šฎ่ณชใฎ็™บ็”Ÿใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ‰ฏ่…ŽใฎไฝŽๅฝขๆˆใ‚’่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅนผๅฐๅ…ๆœŸใซๅคšใ„ใŒใ€ๅฐๅ…โ€•ๆ€ๆ˜ฅๆœŸโ€•้’ๅนดๆœŸใซใ‹ใ‘ใฆ็™บ็—‡ใ™ใ‚‹้…็™บๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ‰ฏ่…Žใฎ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200357" ; - terms:source ; + + nando:hasNotificationNumber "82" ; + dcterms:description "ๅ‰ฏ่…Ž็šฎ่ณชใฎ็™บ็”Ÿใซ้–ขไธŽใ™ใ‚‹้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅ‰ฏ่…ŽใฎไฝŽๅฝขๆˆใ‚’่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅนผๅฐๅ…ๆœŸใซๅคšใ„ใŒใ€ๅฐๅ…โ€•ๆ€ๆ˜ฅๆœŸโ€•้’ๅนดๆœŸใซใ‹ใ‘ใฆ็™บ็—‡ใ™ใ‚‹้…็™บๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ‰ฏ่…Žใฎ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200357" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital adrenal hypoplasia"@en, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010264, mondo:MONDO_0016241 ; + rdfs:label "Congenital adrenal hypoplasia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010264, obo:MONDO_0016241 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ็—‡"@ja . -:2200358 - :hasNotificationNumber "81" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๆ…ขๆ€ง็š„ใช้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆบ€ๆœˆๆง˜้ก˜่ฒŒใ€ไธญๅฟƒๆ€ง่‚ฅๆบ€ใ€buffalo humpใ€็šฎ่†š็ทšๆกใชใฉใฎใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซ็‰นๅพด็š„ใชๅพดๅ€™ใ‚’ๆฌ ใ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200358" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๆ…ขๆ€ง็š„ใช้ซ˜ใ‚ณใƒซใƒใ‚พใƒผใƒซ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๆบ€ๆœˆๆง˜้ก˜่ฒŒใ€ไธญๅฟƒๆ€ง่‚ฅๆบ€ใ€buffalo humpใ€็šฎ่†š็ทšๆกใชใฉใฎใ‚ฏใƒƒใ‚ทใƒณใ‚ฐ็—‡ๅ€™็พคใซ็‰นๅพด็š„ใชๅพดๅ€™ใ‚’ๆฌ ใ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200358" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glucocorticoid resistance"@en, "ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡"@ja ; + rdfs:label "Glucocorticoid resistance"@en, "ใใ‚‹ใ“ใ“ใ‚‹ใกใ“ใ„ใฉใฆใ„ใ“ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0014421 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0014421 ; skos:prefLabel "ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆŠตๆŠ—็—‡"@ja . -:2200359 - :hasNotificationNumber "85" ; - terms:description "ๅพŒๅคฉ็š„ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผ‰ใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏ1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€Addison็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œ่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจ ใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200359" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:description "ๅพŒๅคฉ็š„ใชๅŽŸๅ› ใซใ‚ˆใ‚‹ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡๏ผˆใ‚ขใ‚ธใ‚ฝใƒณ็—…๏ผ‰ใฏใ€ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใ€ใ‚ฐใƒซใ‚ณใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใงใ‚ใ‚‹ใ‚ณใƒซใƒใ‚พใƒผใƒซใ€ ๅ‰ฏ่…Žใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณ๏ผˆDHEA๏ผ‰ใจใใฎ็กซ้…ธๅกฉใงใ‚ใ‚‹ใƒ‡ใƒ’ใƒ‰ใƒญใ‚จใƒ”ใ‚ขใƒณใƒ‰ใƒญใ‚นใƒ†ใƒญใƒณใ‚ตใƒซใƒ•ใ‚งใƒผใƒˆ๏ผˆDHEA-S๏ผ‰ใฎๅˆ†ๆณŒใŒ็”Ÿไฝ“ใฎๅฟ…่ฆ้‡ไปฅไธ‹ใซๆ…ขๆ€ง็š„ใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๅŽŸ็™บๆ€งใฎๆ…ขๆ€งๅ‰ฏ่…Žไธๅ…จใฏ1855ๅนด่‹ฑๅ›ฝใฎๅ†…็ง‘ๅŒปใงใ‚ใ‚‹Thomas Addisonใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€Addison็—…ใจใ‚‚ๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใ€ใ“ใฎๅŽŸ็™บๆ€งๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡ใฎ็—…ๅ› ใจใ—ใฆใ€ ๅ‰ฏ่…Ž็šฎ่ณชใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž็šฎ่ณช้Žๅฝขๆˆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…ŽไฝŽๅฝขๆˆ๏ผˆX้€ฃ้Ž–ๆ€งใ€ๅธธๆŸ“่‰ฒไฝ“ๆ€ง๏ผ‰ใ€ACTHไธๅฟœ็—‡ใชใฉใŒๅŒๅฎšใ•ใ‚Œ่ฒฌไปป้บไผๅญใ‚‚ๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใฏใ‚ขใ‚ธใ‚ฝใƒณ็—…ใจใฏ็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆๆ‰ฑใ‚ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ“ใฎใŸใ‚ใ€ใ‚ขใ‚ธใ‚ฝใƒณ็—…ใฏๅพŒๅคฉๆ€งใฎๆˆๅ› ใซใ‚ˆใ‚‹็—…ๆ…‹ใ‚’็ท็งฐใ™ใ‚‹็”จ่ชžใจ ใ—ใฆ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200359" ; + dcterms:source ; a owl:Class ; - rdfs:label "38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Other chronic adrenal insufficiency"@en ; + rdfs:label "38ใ‹ใ‚‰41ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใตใใ˜ใ‚“ใฒใ—ใคใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Other chronic adrenal insufficiency"@en ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Addison disease"@en ; - skos:closeMatch mondo:MONDO_0009410, mondo:MONDO_0015129 ; + skos:closeMatch obo:MONDO_0009410, obo:MONDO_0015129 ; skos:prefLabel "38ใ‹ใ‚‰41ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งๅ‰ฏ่…Ž็šฎ่ณชๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200360 - :hasNotificationNumber "85" ; - terms:identifier "2200360" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:identifier "NANDO:2200360" ; + dcterms:source ; a owl:Class ; - rdfs:label "Addison disease"@en, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009410, mondo:MONDO_0015129 ; + rdfs:label "Addison's disease"@en, "ใ‚ใ˜ใใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Addison disease"@en, "Addison็—…"@ja ; + skos:closeMatch obo:MONDO_0009410, obo:MONDO_0015129 ; skos:prefLabel "ใ‚ขใ‚ธใ‚ฝใƒณ็—…"@ja . -:2200361 - :hasNotificationNumber "1" ; - terms:description "ๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡๏ผˆprimary aldosteronism:PA๏ผ‰ใฏใ€ๅ‰ฏ่…Ž็šฎ่ณช็—…ๅค‰๏ผˆๅ‰ฏ่…Ž็šฎ่ณช่…ซ็˜ใพใŸใฏ้Žๅฝขๆˆ็—…ๅค‰๏ผ‰ใซใ‚ˆใ‚Šใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ่‡ชๅพ‹็š„้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใ˜ใŸ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้ซ˜่ก€ๅœง็—‡ไพ‹ใซใฆไฝŽใƒฌใƒ‹ใƒณๆ€ง้ซ˜ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ่ก€็—‡ใ‚’ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ™ใ‚‹ใ€‚็ขบ่ช่ฉฆ้จ“ใฎๅพŒๅ‰ฏ่…Ž็—…ๅค‰ใฎๅฑ€ๅœจ่จบๆ–ญใ‚’่กŒใ†ใ€‚PAใฎ็—…ๅž‹ๅˆ†้กžใซใฆใ€็‰‡ๅดๆ€งใ‹ไธกๅดๆ€งใซๅˆ†ใ‘ใฆ่€ƒใˆใ‚‹ใจ็†่งฃใ—ๆ˜“ใ„ใ€‚ใ™ใชใ‚ใกใ€๏ผ‘๏ผ‰็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ๅ‰ฏ่…Ž่…บ่…ซ(aldosterone producing adenoma:APA)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ(unilateral adrenal hyperplaia:UAH)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Žๅคš็™บๅพฎๅฐ็ต็ฏ€๏ผˆunilateral multiple micronodules:UMN๏ผ‰ใ€ใ€€็™Œ่…ซ(aldosterone producing carcinoma:APC)ใ€๏ผ’๏ผ‰ไธกๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ไธกๅดๅ‰ฏ่…Ž้Žๅฝขๆˆ๏ผˆidiopathic hyperaldosteronism:IHA๏ผ‰ใ€ใ€€ไธกๅดๅ‰ฏ่…Ž่…บ่…ซ๏ผˆbilateral APAs๏ผ‰ใ€ใ€€็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅๅฟœๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ (glucocorticoidใ€€suppressiveใ€€hyperaldosteronism:GSH)ใงใ‚ใ‚‹ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใงใƒŠใƒชใ‚ฆใƒ (Na)่ฒฏ็•™ใซๅ‚พใไฝ“ๆถฒๅข—ๅŠ ใซๅพ“ใฃใฆ้ซ˜่ก€ๅœงใŒ็”Ÿใ˜ใ€ๅŒๆ™‚ใซใ‚ซใƒชใ‚ฆใƒ ๏ผˆK๏ผ‰ๆŽ’ๆณ„ๅข—ๅŠ  ใซใ‚ˆใ‚‹ไฝŽK่ก€็—‡ใ€HCO๏ผ“ๅข—ๅŠ ใซใ‚ˆใ‚‹ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใ€ใใ—ใฆใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณ๏ผˆ่„ณๅ‡บ่ก€ใ€่„ณๆข—ๅกžใ€ๅฟƒ็ญ‹ๆข—ๅกžใ€ๅฟƒ่‚ฅๅคงใ€ไธๆ•ด่„ˆใ€่…Žไธๅ…จ็ญ‰๏ผ‰ใ‚’ใ‚‚ใŸใ‚‰ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰ใงใ‚ใ‚Œใฐ ใใฎๆ‘˜ๅ‡บใ‚’ใ€ไธกๅด็—…ๅค‰ใงใฏใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅ‰ค๏ผˆๆœ€่ฟ‘ใงใฏใ€ไธกๅดๅ‰ฏ่…Žใฎ้ƒจๅˆ†ๆ‘˜ๅ‡บใ‚‚่กŒใ†๏ผ‰ใ€GSHใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๅ‰คใชใฉใซใ‚ˆใ‚‹่–ฌ็‰ฉ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚ใชใŠใ€้ฃŸๅกฉๆ‘‚ๅ–้‡ใ‚„่–ฌ็‰ฉใฎๅฝฑ้Ÿฟใซใ‚ˆใ‚Šๅˆ่จบๆ™‚ใซไฝŽ๏ผซ่ก€็—‡ใ‚’็คบใ•ใชใ„็—‡ไพ‹ใ‚‚ๅคšใ„ใฎใงใ€ๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200361" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "ๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡๏ผˆprimary aldosteronism:PA๏ผ‰ใฏใ€ๅ‰ฏ่…Ž็šฎ่ณช็—…ๅค‰๏ผˆๅ‰ฏ่…Ž็šฎ่ณช่…ซ็˜ใพใŸใฏ้Žๅฝขๆˆ็—…ๅค‰๏ผ‰ใซใ‚ˆใ‚Šใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ่‡ชๅพ‹็š„้Žๅ‰ฐๅˆ†ๆณŒใŒ็”Ÿใ˜ใŸ็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้ซ˜่ก€ๅœง็—‡ไพ‹ใซใฆไฝŽใƒฌใƒ‹ใƒณๆ€ง้ซ˜ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ่ก€็—‡ใ‚’ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ™ใ‚‹ใ€‚็ขบ่ช่ฉฆ้จ“ใฎๅพŒๅ‰ฏ่…Ž็—…ๅค‰ใฎๅฑ€ๅœจ่จบๆ–ญใ‚’่กŒใ†ใ€‚PAใฎ็—…ๅž‹ๅˆ†้กžใซใฆใ€็‰‡ๅดๆ€งใ‹ไธกๅดๆ€งใซๅˆ†ใ‘ใฆ่€ƒใˆใ‚‹ใจ็†่งฃใ—ๆ˜“ใ„ใ€‚ใ™ใชใ‚ใกใ€๏ผ‘๏ผ‰็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ๅ‰ฏ่…Ž่…บ่…ซ(aldosterone producing adenoma:APA)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ(unilateral adrenal hyperplaia:UAH)ใ€ใ€€็‰‡ๅดๆ€งๅ‰ฏ่…Žๅคš็™บๅพฎๅฐ็ต็ฏ€๏ผˆunilateral multiple micronodules:UMN๏ผ‰ใ€ใ€€็™Œ่…ซ(aldosterone producing carcinoma:APC)ใ€๏ผ’๏ผ‰ไธกๅดๅ‰ฏ่…Ž็—…ๅค‰๏ผš ไธกๅดๅ‰ฏ่…Ž้Žๅฝขๆˆ๏ผˆidiopathic hyperaldosteronism:IHA๏ผ‰ใ€ใ€€ไธกๅดๅ‰ฏ่…Ž่…บ่…ซ๏ผˆbilateral APAs๏ผ‰ใ€ใ€€็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅๅฟœๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ (glucocorticoidใ€€suppressiveใ€€hyperaldosteronism:GSH)ใงใ‚ใ‚‹ใ€‚ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใงใƒŠใƒชใ‚ฆใƒ (Na)่ฒฏ็•™ใซๅ‚พใไฝ“ๆถฒๅข—ๅŠ ใซๅพ“ใฃใฆ้ซ˜่ก€ๅœงใŒ็”Ÿใ˜ใ€ๅŒๆ™‚ใซใ‚ซใƒชใ‚ฆใƒ ๏ผˆK๏ผ‰ๆŽ’ๆณ„ๅข—ๅŠ  ใซใ‚ˆใ‚‹ไฝŽK่ก€็—‡ใ€HCO๏ผ“ๅข—ๅŠ ใซใ‚ˆใ‚‹ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใ€ใใ—ใฆใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณ๏ผˆ่„ณๅ‡บ่ก€ใ€่„ณๆข—ๅกžใ€ๅฟƒ็ญ‹ๆข—ๅกžใ€ๅฟƒ่‚ฅๅคงใ€ไธๆ•ด่„ˆใ€่…Žไธๅ…จ็ญ‰๏ผ‰ใ‚’ใ‚‚ใŸใ‚‰ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๅ‰ฏ่…Ž็—…ๅค‰ใงใ‚ใ‚Œใฐ ใใฎๆ‘˜ๅ‡บใ‚’ใ€ไธกๅด็—…ๅค‰ใงใฏใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅ‰ค๏ผˆๆœ€่ฟ‘ใงใฏใ€ไธกๅดๅ‰ฏ่…Žใฎ้ƒจๅˆ†ๆ‘˜ๅ‡บใ‚‚่กŒใ†๏ผ‰ใ€GSHใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๅ‰คใชใฉใซใ‚ˆใ‚‹่–ฌ็‰ฉ็™‚ๆณ•ใ‚’่กŒใ†ใ€‚ใชใŠใ€้ฃŸๅกฉๆ‘‚ๅ–้‡ใ‚„่–ฌ็‰ฉใฎๅฝฑ้Ÿฟใซใ‚ˆใ‚Šๅˆ่จบๆ™‚ใซไฝŽ๏ผซ่ก€็—‡ใ‚’็คบใ•ใชใ„็—‡ไพ‹ใ‚‚ๅคšใ„ใฎใงใ€ๆณจๆ„ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200361" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aldosteronism"@en, "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; + rdfs:label "Aldosteronism"@en, "ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001422 ; skos:prefLabel "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja . -:2200362 - :hasNotificationNumber "86" ; - terms:description "Apparentใ€€Mineralocorticoid Excess็—‡ๅ€™็พค(AME)ใฏ่‡จๅบŠ็š„ใซใฏไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็”Ÿ็†้‡ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅ—ๅฎนไฝ“(MR)ใซ็ตๅˆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญฆ็š„ใซ11ฮฒ hydroxysteroid dehydorgenase (HSD) type2้บไผๅญ๏ผˆHSD11B2๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200362" ; - terms:source ; + + nando:hasNotificationNumber "86" ; + dcterms:description "Apparentใ€€Mineralocorticoid Excess็—‡ๅ€™็พค(AME)ใฏ่‡จๅบŠ็š„ใซใฏไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็”Ÿ็†้‡ใฎใ‚ณใƒซใƒใ‚พใƒผใƒซใŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๅ—ๅฎนไฝ“(MR)ใซ็ตๅˆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญฆ็š„ใซ11ฮฒ hydroxysteroid dehydorgenase (HSD) type2้บไผๅญ๏ผˆHSD11B2๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200362" ; + dcterms:source ; a owl:Class ; - rdfs:label "Apparent mineralocorticoid excess syndrome"@en, "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค"@ja ; + rdfs:label "Apparent mineralocorticoid excess syndrome"@en, "ใฟใ‹ใ‘ใฎใ“ใ†ใ—ใคใ“ใ‚‹ใกใ“ใ„ใฉใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "AME syndrome"@en, "AME็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0006657, mondo:MONDO_0009025 ; + skos:closeMatch obo:MONDO_0006657, obo:MONDO_0009025 ; skos:prefLabel "่ฆ‹ใ‹ใ‘ใฎ้‰ฑ่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐ็—‡ๅ€™็พค"@ja . -:2200363 - :hasNotificationNumber "87" ; - terms:description "Liddle็—‡ๅ€™็พคใฏ1993ๅนดใซLiddleใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่‹ฅๅนดๆ€ง้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ€ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใŒใ€่ก€ๆผฟใƒฌใƒ‹ใƒณๆดปๆ€งใ€่ก€ๆผฟใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฏไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้ฃŸๅกฉๆ„Ÿๅ—ๆ€ง้ซ˜่ก€ๅœง็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200363" ; - terms:source ; + + nando:hasNotificationNumber "87" ; + dcterms:description "Liddle็—‡ๅ€™็พคใฏ1993ๅนดใซLiddleใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚่‹ฅๅนดๆ€ง้ซ˜่ก€ๅœงใ€ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใ€ไปฃ่ฌๆ€งใ‚ขใƒซใ‚ซใƒญใƒผใ‚ทใ‚นใชใฉๅŽŸ็™บๆ€งใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใŒใ€่ก€ๆผฟใƒฌใƒ‹ใƒณๆดปๆ€งใ€่ก€ๆผฟใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฏไฝŽๅ€คใ‚’็คบใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้ฃŸๅกฉๆ„Ÿๅ—ๆ€ง้ซ˜่ก€ๅœง็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200363" ; + dcterms:source ; a owl:Class ; - rdfs:label "Liddle syndrome"@en, "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Liddle syndrome"@en, "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Liddle็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008323, mondo:MONDO_0020607 ; + skos:closeMatch obo:MONDO_0008323 ; skos:prefLabel "ใƒชใƒ‰ใƒซ็—‡ๅ€™็พค"@ja . -:2200364 - :hasNotificationNumber "69" ; - terms:description "ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ไนใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ใƒฌใƒ‹ใƒณใŒไธŠๆ˜‡ใ›ใšใ€้€†ใซไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200364" ; - terms:source ; + + nando:hasNotificationNumber "69" ; + dcterms:description "ใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ไนใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ใƒฌใƒ‹ใƒณใŒไธŠๆ˜‡ใ›ใšใ€้€†ใซไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200364" ; + dcterms:source ; a owl:Class ; - rdfs:label "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; + rdfs:label "Hyporeninemic hypoaldosteronism"@en, "ใฆใ„ใ‚Œใซใ‚“ใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:altLabel "Hyporeninaemic hypoaldosteronism"@en ; + skos:prefLabel "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja . -:2200365 - :hasNotificationNumber "68" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏ๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450c18(P450aldใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹)ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒ้šœๅฎณใ‚’ใใŸใ—๏ผŒๅกฉๅ–ชๅคฑ็—‡็Šถใ‚’่ตทใ“ใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰corticosterone methyloxidase (CMO)Iๆฌ ๆ็—‡๏ผŒCMO IIๆฌ ๆ็—‡ใจใ—ใฆ่‡จๅบŠ็š„ใซๅŒบๅˆฅใ•ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฏ๏ผŒๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏใจใ‚‚ใซP450c18้บไผๅญใงใ‚ใ‚‹CYP11B2ใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใŸใ€‚"@ja ; - terms:identifier "2200365" ; - terms:source ; + + nando:hasNotificationNumber "68" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏ๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450c18(P450aldใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹)ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Šใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณใฎๅˆ†ๆณŒ้šœๅฎณใ‚’ใใŸใ—๏ผŒๅกฉๅ–ชๅคฑ็—‡็Šถใ‚’่ตทใ“ใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไปฅๅ‰corticosterone methyloxidase (CMO)Iๆฌ ๆ็—‡๏ผŒCMO IIๆฌ ๆ็—‡ใจใ—ใฆ่‡จๅบŠ็š„ใซๅŒบๅˆฅใ•ใ‚Œใฆใ„ใŸ็—…ๆ…‹ใฏ๏ผŒๅˆ†ๅญ็”Ÿ็‰ฉๅญฆ็š„ใซใฏใจใ‚‚ใซP450c18้บไผๅญใงใ‚ใ‚‹CYP11B2ใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200365" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aldosterone synthase deficiency"@en, "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Aldosterone synthase deficiency"@en, "ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020489 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020489 ; skos:prefLabel "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200366 - :hasNotificationNumber "70" ; - terms:description "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200366" ; - terms:source ; + + nando:hasNotificationNumber "70" ; + dcterms:description "ไฝŽใƒฌใƒ‹ใƒณๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡ใ€ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200366" ; + dcterms:source ; a owl:Class ; - rdfs:label "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; + rdfs:label "46ใŠใ‚ˆใณ47ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja, "other hypoaldosteronism"@en ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:prefLabel "46ๅŠใณ47ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja . -:2200367 - :hasNotificationNumber "7" ; - terms:identifier "2200367" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:identifier "NANDO:2200367" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pseudohypoaldosteronism"@en, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; + rdfs:label "Pseudohypoaldosteronism"@en, "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018638 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018638 ; skos:prefLabel "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡"@ja . -:2200368 - :hasNotificationNumber "7" ; - terms:description "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅ…ˆๅคฉ็š„ใช่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Naๅ†ๅธๅŽใจ๏ผซๆŽ’ๆณ„่ƒฝใฎไฝŽไธ‹ใฎใŸใ‚ๅกฉ้กžๅ–ชๅคฑ็—‡ๅ€™็พค salt-wasting syndromeใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200368" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณๅˆ†ๆณŒใฏๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€ๅ…ˆๅคฉ็š„ใช่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹Naๅ†ๅธๅŽใจ๏ผซๆŽ’ๆณ„่ƒฝใฎไฝŽไธ‹ใฎใŸใ‚ๅกฉ้กžๅ–ชๅคฑ็—‡ๅ€™็พค salt-wasting syndromeใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200368" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pseudohypoaldosteronism typeI"@en, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹"@ja ; + rdfs:label "Pseudohypoaldosteronism type I"@en, "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡Iๅž‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ… ๅž‹"@ja . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019161 ; + skos:prefLabel "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡Iๅž‹"@ja . -:2200369 - :hasNotificationNumber "7" ; - terms:description "่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒ้ซ˜ใ‚ฏใƒญใƒผใƒซ่ก€็—‡ๆ€งไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น ใ‚’ใใŸใ™ใŒ๏ผŒPHA Iใจ็•ฐใชใ‚Šๅกฉ้กžๅ–ชๅคฑ็—‡็Šถใฏใชใ๏ผŒๅพช็’ฐ่ก€ๆถฒ้‡ๅข—ๅคงใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Gordon็—‡ๅ€™็พคใจใ‚‚ใ„ใ†ใ€‚"@ja ; - terms:identifier "2200369" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "่…Žๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚Š้ซ˜ใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡๏ผŒ้ซ˜ใ‚ฏใƒญใƒผใƒซ่ก€็—‡ๆ€งไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น ใ‚’ใใŸใ™ใŒ๏ผŒPHA Iใจ็•ฐใชใ‚Šๅกฉ้กžๅ–ชๅคฑ็—‡็Šถใฏใชใ๏ผŒๅพช็’ฐ่ก€ๆถฒ้‡ๅข—ๅคงใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Gordon็—‡ๅ€™็พคใจใ‚‚ใ„ใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200369" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pseudohypoaldosteronism typeII"@en, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ…กๅž‹"@ja ; + rdfs:label "Pseudohypoaldosteronism type II"@en, "ใŽใ›ใ„ใฆใ„ใ‚ใ‚‹ใฉใ™ใฆใ‚ใ‚“ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡IIๅž‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Gordon ็—‡ๅ€™็พค "@ja ; - skos:prefLabel "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡โ…กๅž‹"@ja . - -:2200370 - :hasNotificationNumber "61" ; - terms:description "ๆœฌ็—‡ใฏใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎๅพ‹้€Ÿๆฎต้šŽใซใ‚ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ˆ ใ‚Šใƒ—ใƒฌใ‚ฐใƒใƒŽใƒญใƒณใƒ˜ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็งป้€่›‹็™ฝใงใ‚ใ‚‹Steroidogenic acute regualtory proteinใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ๅ‰ฏ่…ŽๅŠใณๆ€ง่…บใซใŠใ‘ใ‚‹ใปใจใ‚“ใฉใ™ในใฆใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒๅˆๆˆใงใใชใ„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใใฎใŸใ‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ใพใŸ46ใ€ XYใฎๅ€‹ไฝ“ใงใฏ็ฒพๅทฃใงใฎ็”ทๆ€งใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ้šœๅฎณใฎใŸใ‚ๅค–ๆ€งๅ™จใŒๅฅณๆ€งๅŒ–ใ™ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ๆฅตใ‚ใฆใพใ‚Œใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅด้Ž–ๅˆ‡ๆ–ญ้…ต็ด (P450scc๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200370" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital lipoid adrenal hyperplasia"@en, "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018479 ; + rdfs:subClassOf ; + skos:altLabel "Gordon syndrome"@en, "Gordon ็—‡ๅ€™็พค "@ja ; + skos:closeMatch obo:MONDO_0019162 ; + skos:prefLabel "ๅฝๆ€งไฝŽใ‚ขใƒซใƒ‰ใ‚นใƒ†ใƒญใƒณ็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "61" ; + dcterms:description "ๆœฌ็—‡ใฏใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎๅพ‹้€Ÿๆฎต้šŽใซใ‚ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚ˆ ใ‚Šใƒ—ใƒฌใ‚ฐใƒใƒŽใƒญใƒณใƒ˜ใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้Ž็จ‹ใซ้–ขไธŽใ™ใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็งป้€่›‹็™ฝใงใ‚ใ‚‹Steroidogenic acute regualtory proteinใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ๅ‰ฏ่…ŽๅŠใณๆ€ง่…บใซใŠใ‘ใ‚‹ใปใจใ‚“ใฉใ™ในใฆใฎใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณใŒๅˆๆˆใงใใชใ„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚ใใฎใŸใ‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€ใพใŸ46ใ€ XYใฎๅ€‹ไฝ“ใงใฏ็ฒพๅทฃใงใฎ็”ทๆ€งใƒ›ใƒซใƒขใƒณ็”ฃ็”Ÿ้šœๅฎณใฎใŸใ‚ๅค–ๆ€งๅ™จใŒๅฅณๆ€งๅŒ–ใ™ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚ใใฎไป–ใ€ๆฅตใ‚ใฆใพใ‚Œใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅด้Ž–ๅˆ‡ๆ–ญ้…ต็ด (P450scc๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200370" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital lipoid adrenal hyperplasia"@en, "ใ‚Šใฝใ„ใฉใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ˆๅคฉๆ€งใƒชใƒใ‚คใƒ‰้Žๅฝขๆˆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0018479 ; skos:prefLabel "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja . -:2200371 - :hasNotificationNumber "57" ; - terms:description "ๆœฌ็—‡ใฏๅ‰ฏ่…Ž๏ผŒๆ€ง่…บใซใŠใ‘ใ‚‹3ฮฒโ€ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใŸใ‚๏ผŒๅ‰ฏ่…Žไธๅ…จๅŠใณๅค–ๆ€งๅ™จ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใฎๅฝขๅผใ‚’็คบใ™ใ€‚ๆœฌ็—‡ใซใฏๅคๅ…ธๅž‹ใฎใปใ‹้žๅคๅ…ธๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200371" ; - terms:source ; + + nando:hasNotificationNumber "57" ; + dcterms:description "ๆœฌ็—‡ใฏๅ‰ฏ่…Ž๏ผŒๆ€ง่…บใซใŠใ‘ใ‚‹3ฮฒโ€ๆฐด้…ธๅŒ–ใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใŸใ‚๏ผŒๅ‰ฏ่…Žไธๅ…จๅŠใณๅค–ๆ€งๅ™จ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใฎๅฝขๅผใ‚’็คบใ™ใ€‚ๆœฌ็—‡ใซใฏๅคๅ…ธๅž‹ใฎใปใ‹้žๅคๅ…ธๅž‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200371" ; + dcterms:source ; a owl:Class ; - rdfs:label "3 beta-hydroxysteroid dehydrogenase deficiency"@en, "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "3 beta-hydroxysteroid dehydrogenase deficiency"@en, "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja, "3ในใƒผใŸใฒใฉใ‚ใใ—ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008727 ; + rdfs:subClassOf ; + skos:altLabel "3ฮฒ-hydroxysteroid dehydrogenase deficiency"@en ; + skos:closeMatch obo:MONDO_0008727 ; skos:prefLabel "3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200372 - :hasNotificationNumber "56" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใงใ‚ใ‚Š๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cll๏ผˆ11ฮฒโ€ๆฐด้…ธๅŒ–้…ต็ด ๏ผ‰ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจ๏ผŒใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹็”ทๆ€งๅŒ–ใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200372" ; - terms:source ; - a owl:Class ; - rdfs:label "11 beta-hydroxylase deficiency"@en, "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008729 ; + + nando:hasNotificationNumber "56" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใงใ‚ใ‚Š๏ผŒใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cll๏ผˆ11ฮฒโ€ๆฐด้…ธๅŒ–้…ต็ด ๏ผ‰ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจ๏ผŒใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚‹็”ทๆ€งๅŒ–ใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200372" ; + dcterms:source ; + a owl:Class ; + rdfs:label "11-ฮฒ-Hydroxylase deficiency"@en, "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja, "11ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "11-beta-hydroxylase deficiency"@en ; + skos:closeMatch obo:MONDO_0008729 ; skos:prefLabel "11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200373 - :hasNotificationNumber "58" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏ๏ผŒๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใจใ—ใฆ๏ผŒ1966ๅนดBiglieri ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cl7ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจๆ€งใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆฌ ไนใซใ‚ˆใ‚‹ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200373" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏ๏ผŒๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆใฎๆˆๅ› ใฎ๏ผ‘ใคใจใ—ใฆ๏ผŒ1966ๅนดBiglieri ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚นใƒ†ใƒญใ‚คใƒ‰ๅˆๆˆ้…ต็ด ใฎP450cl7ใฎๅ…ˆๅคฉ็š„ใช้šœๅฎณใซใ‚ˆใ‚Š๏ผŒใƒŸใƒใƒฉใƒซใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰้Žๅ‰ฐใซใ‚ˆใ‚‹้ซ˜่ก€ๅœงใจๆ€งใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆฌ ไนใซใ‚ˆใ‚‹ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200373" ; + dcterms:source ; a owl:Class ; - rdfs:label "17 alpha-hydroxylase deficiency"@en, "17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "17 alpha-hydroxylase deficiency"@en, "17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja, "17ใ‚ใ‚‹ใตใใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008730 ; + rdfs:subClassOf ; + skos:altLabel "17-ฮฑ-Hydroxylase deficiency"@en ; + skos:closeMatch obo:MONDO_0008730 ; skos:prefLabel "17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200374 - :hasNotificationNumber "59" ; - terms:description "ๆœฌ็—‡ใฏๅ‰ฏ่…ŽใซใŠใ„ใฆ17โ€ใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณ๏ผŒใ‚ใ‚‹ใ„ใฏใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณใ‹ใ‚‰ใใ‚Œใžใ‚Œ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚พใƒผใƒซ๏ผŒ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใƒณใฎๅˆๆˆใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹21ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆP450 c21๏ผ‰ใŒๆฌ ๆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ใฎๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใ‚’็คบใ—๏ผŒ่‡จๅบŠ็—‡็Šถใซๅคšๆง˜ๆ€งใŒใ‚ใ‚Š้‡็—‡ๅบฆใฎ้ †ใซๅกฉๅ–ชๅคฑๅž‹๏ผŒๅ˜็ด”็”ทๆ€งๅž‹๏ผŒๆ›ดใซ้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆ1989ๅนดใ‚ˆใ‚Šๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200374" ; - terms:source ; + + nando:hasNotificationNumber "59" ; + dcterms:description "ๆœฌ็—‡ใฏๅ‰ฏ่…ŽใซใŠใ„ใฆ17โ€ใƒใ‚คใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณ๏ผŒใ‚ใ‚‹ใ„ใฏใƒ—ใƒญใ‚ฒใ‚นใƒ†ใƒญใƒณใ‹ใ‚‰ใใ‚Œใžใ‚Œ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚พใƒผใƒซ๏ผŒ11-ใƒ‡ใ‚ชใ‚ญใ‚ทใ‚ณใƒซใƒใ‚ณใ‚นใƒ†ใƒญใƒณใฎๅˆๆˆใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹21ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆP450 c21๏ผ‰ใŒๆฌ ๆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ใฎๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผใ‚’็คบใ—๏ผŒ่‡จๅบŠ็—‡็Šถใซๅคšๆง˜ๆ€งใŒใ‚ใ‚Š้‡็—‡ๅบฆใฎ้ †ใซๅกฉๅ–ชๅคฑๅž‹๏ผŒๅ˜็ด”็”ทๆ€งๅž‹๏ผŒๆ›ดใซ้…็™บๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใซใŠใ„ใฆ1989ๅนดใ‚ˆใ‚Šๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200374" ; + dcterms:source ; a owl:Class ; - rdfs:label "21-hydroxylase deficiency"@en, "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008728 ; + rdfs:label "21-Hydroxylase deficiency"@en, "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja, "21ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008728 ; skos:prefLabel "21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200375 - :hasNotificationNumber "60" ; - terms:description "P450 oxidoreductase(POR)ใฏ่†œ็ตๅˆๅž‹ flavoprotein ใงใ‚ใ‚Šใ€ใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ™ในใฆใฎP450้…ต็ด ็พคใซ้›ปๅญไผ้”ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹21-ๆฐด้…ธๅŒ–้…ต็ด ใจ17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ใฎ่ค‡ๅˆๆฌ ๆใ‚’ไผดใ†ใ€‚ใพใŸใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅˆๆˆใซใ‚‚P450ใŒ้–ขไธŽใ™ใ‚‹ใŸใ‚ใ€็ดฐ่ƒžๅ†…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€ๆง˜ใ€…ใช้ชจๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใ‚ˆใ‚Š้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ใชใฉใฎๅคš็™บๅฅ‡ๅฝขใ‚’ใจใ‚‚ใชใ†Antley-Bixler็—‡ๅ€™็พคใฎใชใ‹ใซใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎ็”ฃ็”Ÿ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏPORใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚"@ja ; - terms:identifier "2200375" ; - terms:source ; - a owl:Class ; - rdfs:label "P450 oxidoreductase deficiency"@en, "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "60" ; + dcterms:description "P450 oxidoreductase(POR)ใฏ่†œ็ตๅˆๅž‹ flavoprotein ใงใ‚ใ‚Šใ€ใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ™ในใฆใฎP450้…ต็ด ็พคใซ้›ปๅญไผ้”ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚ใ“ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใƒžใ‚คใ‚ฏใƒญใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹21-ๆฐด้…ธๅŒ–้…ต็ด ใจ17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ใฎ่ค‡ๅˆๆฌ ๆใ‚’ไผดใ†ใ€‚ใพใŸใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๅˆๆˆใซใ‚‚P450ใŒ้–ขไธŽใ™ใ‚‹ใŸใ‚ใ€็ดฐ่ƒžๅ†…ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€ๆง˜ใ€…ใช้ชจๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใ‚ˆใ‚Š้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡ใชใฉใฎๅคš็™บๅฅ‡ๅฝขใ‚’ใจใ‚‚ใชใ†Antley-Bixler็—‡ๅ€™็พคใฎใชใ‹ใซใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎ็”ฃ็”Ÿ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฏPORใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200375" ; + dcterms:source ; + a owl:Class ; + rdfs:label "P450 oxidoreductase deficiency"@en, "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja, "ใดใƒผ450ใ•ใ‚“ใ‹ใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "P450ใ‚ชใ‚ญใ‚ทใƒ‰ใƒฌใƒ€ใ‚ฏใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja, "PORD"@en, "PORๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0013310 ; skos:prefLabel "P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200376 - :hasNotificationNumber "62" ; - terms:description "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200376" ; - terms:source ; + + nando:hasNotificationNumber "62" ; + dcterms:description "ใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€11ฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€21-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ‚’้™คๅค–ใ—ใŸๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200376" ; + dcterms:source ; a owl:Class ; - rdfs:label "50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja ; + rdfs:label "50ใ‹ใ‚‰55ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใใ˜ใ‚“ใ‹ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja, "Other congenital adrenal hyperplasia"@en ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:prefLabel "50ใ‹ใ‚‰55ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡"@ja . -:2200377 - :hasNotificationNumber "37" ; - terms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200377" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200377" ; + dcterms:source ; a owl:Class ; - rdfs:label "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; + rdfs:label "Gonadotropin-dependent precocious puberty"@en, "ใ”ใชใฉใจใ‚ใดใ‚“ใ„ใžใ‚“ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019165 ; + skos:prefLabel "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja . -:2200378 - :hasNotificationNumber "38" ; - terms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰2SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200378" ; - terms:source ; + + nando:hasNotificationNumber "38" ; + dcterms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใŒใ€ใพใŸใ€€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰2SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ๆ—ฉๆœŸใซ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซๆ—ฉใ„ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚ใ€€ๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งใจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€ไธญๆžขใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใ‹ใ‚‰ๅง‹ใพใ‚‹ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฟƒ้€ฒใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ€่„ณๅ†…ใฎๅค‰ๅŒ–ใซ่ตทๅ› ใ™ใ‚‹ใ€‚ไธ€ๆ–นใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใฏใ€่„ณๅ†…ใฎใƒ›ใƒซใƒขใƒณๅˆ†ๆณŒไบข้€ฒใŒใชใ„็Šถๆ…‹ใงใ€ๆœซๆขขใซใŠใ‘ใ‚‹ๅ†…ๅ› ๆ€งๅˆ†ๆณŒไบข้€ฒใ‚ใ‚‹ใ„ใฏๅค–ๅ› ๆ€งใฎๆ€งใƒ›ใƒซใƒขใƒณๆ›้œฒใซใ‚ˆใ‚ŠไบŒๆฌกๆ€งๅพดใ‚’่ชใ‚ใ‚‹ใ‚‚ใฎใงใ‚ใ‚Šใ€่„ณใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒใฏใ‚€ใ—ใ‚ๆŠ‘ๅˆถใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200378" ; + dcterms:source ; a owl:Class ; - rdfs:label "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; + rdfs:label "Non-gonadotropin-dependent precocious puberty"@en, "ใ”ใชใฉใจใ‚ใดใ‚“ใฒใ„ใžใ‚“ใ›ใ„ใ—ใ—ใ‚…ใ‚“ใใใ†ใฏใคใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015791 ; + skos:prefLabel "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡"@ja . -:2200379 - :hasNotificationNumber "3" ; - terms:description "็”ทๆ€งใงใฏๅฅณๆ€งๅŒ–ไนณๆˆฟใ‚’ใใŸใ—ใ€ๅฅณๆ€งใงใฏๅทจๅคงไนณๆˆฟใ€ไธๆญฃๆ€งๅ™จๅ‡บ่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€่ก€ไธญใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณใฎ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200379" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "็”ทๆ€งใงใฏๅฅณๆ€งๅŒ–ไนณๆˆฟใ‚’ใใŸใ—ใ€ๅฅณๆ€งใงใฏๅทจๅคงไนณๆˆฟใ€ไธๆญฃๆ€งๅ™จๅ‡บ่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€่ก€ไธญใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณใฎ้ซ˜ๅ€คใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200379" ; + dcterms:source ; a owl:Class ; - rdfs:label "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja ; + rdfs:label "Hyperestrogenism"@en, "ใˆใ™ใจใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001946 ; + skos:prefLabel "ใ‚จใ‚นใƒˆใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja . -:2200380 - :hasNotificationNumber "2" ; - terms:description "ๅฅณๆ€งใซใŠใ„ใฆใ€็”ทๆ€งใƒ›ใƒซใƒขใƒณใฎ้Žๅ‰ฐใซใ‚ˆใ‚Š็”ทๆ€งๅŒ–ๅ…†ๅ€™ใ‚’็คบใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ก€ไธญใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใพใŸใ€็‰นใซใ‚ขใƒญใƒžใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไบŒๆฌกๆ€งๅพดใฎๆฌ ๅฆ‚ใจ้€ฒ่กŒๆ€งใฎ็”ทๆ€งๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200380" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ๅฅณๆ€งใซใŠใ„ใฆใ€็”ทๆ€งใƒ›ใƒซใƒขใƒณใฎ้Žๅ‰ฐใซใ‚ˆใ‚Š็”ทๆ€งๅŒ–ๅ…†ๅ€™ใ‚’็คบใ™็Šถๆ…‹ใ‚’ใ„ใ†ใ€‚่ก€ไธญใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณๆฟƒๅบฆใฎ้ซ˜ๅ€คใ‚’็คบใ™ใ€‚ใพใŸใ€็‰นใซใ‚ขใƒญใƒžใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใงใฏไบŒๆฌกๆ€งๅพดใฎๆฌ ๅฆ‚ใจ้€ฒ่กŒๆ€งใฎ็”ทๆ€งๅŒ–ใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200380" ; + dcterms:source ; a owl:Class ; - rdfs:label "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja ; + rdfs:label "Hyperandrogenism"@en, "ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใ‹ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001324 ; + skos:prefLabel "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ้Žๅ‰ฐ็—‡"@ja . -:2200381 - :hasNotificationNumber "71" ; - terms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200381" ; - terms:source ; + + nando:hasNotificationNumber "71" ; + dcterms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200381" ; + dcterms:source ; a owl:Class ; - rdfs:label "Kallmann syndrome"@en, "ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:label "Kallmann syndrome"@en, "ใ‹ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Kallmann็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0018800 ; + skos:closeMatch obo:MONDO_0018800 ; skos:prefLabel "ใ‚ซใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja . -:2200382 - :hasNotificationNumber "72" ; - terms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200382" ; - terms:source ; - a owl:Class ; - rdfs:label "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf . + + nando:hasNotificationNumber "72" ; + dcterms:description "ไบŒๆฌกๆ€งๅพดใจใฏใ€็”ทๅญใซใŠใ‘ใ‚‹็ฒพๅทฃใฎๅข—ๅคงใจๅค–ๆ€งๅ™จใฎๆˆ็†Ÿใƒป้™ฐๆฏ›ใฎ็™บ็”Ÿใƒป่…‹ๆฏ›ใ‚„ใฒใ’ใ€ๅค‰ๅฃฐใ‚’ใ€ๅฅณๅญใซใŠใ‘ใ‚‹ไนณๆˆฟ็™บ้”ใ€้™ฐๆฏ›็™บ็”Ÿใจๅค–ๆ€งๅ™จใฎๆˆ็†ŸใŠใ‚ˆใณ่…‹ๆฏ›ใฎ็™บ็”Ÿใƒปๆœˆ็ตŒใŒใŠใ“ใ‚Šใ€้ †ๆฌก้€ฒ่กŒใ—ใฆใ„ใใ“ใจใงใ‚ใ‚‹ใ€‚ไธ€่ˆฌใซใ€ไบŒๆฌกๆ€งๅพดใฎ้–‹ๅง‹ๆ™‚ๆœŸใซใฏๅ€‹ไบบๅทฎใŒใ‚ใ‚Šใ€ๅนณๅ‡้–‹ๅง‹ๅนด้ฝขใ‹ใ‚‰ใปใผๆญฃ่ฆๅˆ†ๅธƒใ‚’็คบใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅพดใŒๅนณๅ‡ใ‹ใ‚‰๏ผ’SDใพใŸใฏ95ใƒ‘ใƒผใ‚ปใƒณใ‚ฟใ‚คใƒซใ‚ˆใ‚Šใ‚‚ใซ้…ใ‚Œใฆ้–‹ๅง‹ใ—ใŸใ‚‚ใฎใฏใ€ๆจ™ๆบ–็š„ใชๅน…ใ‚’่ถ…ใˆใฆ็—…็š„ใซ้…ๅปถใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ€ใ“ใ‚Œใ‚’ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ€‚ๆ€ๆ˜ฅๆœŸ้…็™บ็—‡ใฎไธญใงใ€ไธ‹ๅž‚ไฝ“ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹ใŒๆˆไบบๆœŸใซใชใฃใฆใ‚‚ๆŒ็ถšใ—ๅ›žๅพฉใ—ใชใ„ใŸใ‚ใซๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใŒๆŒ็ถšใ™ใ‚‹ใ‚‚ใฎใ‚’ใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจๅ‘ผใถใ€‚ใ€€ๆ€ๆ˜ฅๆœŸใซใŠใ‘ใ‚‹ไบŒๆฌกๆ€งๅพดใฏใ€่„ณๅ†…่ฆ–ๅบŠไธ‹้ƒจใ‚ˆใ‚Šใ‚‚ไธญๆžขใฎใ€Œๆˆ็†Ÿๆ™‚่จˆใ€ใจๅ‘ผใฐใ‚Œใ‚‹ไฝ“ๅ†…ๆ™‚่จˆใซใ‚ˆใ‚Šใ€่ฆ–ๅบŠไธ‹้ƒจใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ”พๅ‡บใƒ›ใƒซใƒขใƒณ๏ผˆLHRH๏ผ‰ใฎๅˆ†ๆณŒใŒไบข้€ฒใ—ใ€ใ“ใ‚ŒใŒไธ‹ๅž‚ไฝ“ใ‹ใ‚‰ใฎใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ๏ผˆLHใŠใ‚ˆใณFSH๏ผ‰ใฎๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ—ใ€ใ•ใ‚‰ใซใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณใŒๆ€ง่…บใ‹ใ‚‰ใฎๆ€งใƒ›ใƒซใƒขใƒณ๏ผˆ็ฒพๅทฃใ‹ใ‚‰ใฎใƒ†ใ‚นใƒˆใ‚นใƒ†ใƒญใƒณใพใŸใฏๅตๅทฃใ‹ใ‚‰ใฎใ‚จใ‚นใƒˆใƒญใ‚ธใ‚งใƒณ๏ผ‰ๅˆ†ๆณŒใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ“ใจใง็™บๆฅใ—ใ€้€ฒ่กŒใ™ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฏๅ—…่„ณๅŽŸๅŸบ๏ผˆOlfactory placode๏ผ‰ใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€่ฆ–ๅบŠไธ‹้ƒจใซ้Š่ตฐใ—ใฆใ„ใใŒใ€ใ‚ซใƒซใƒžใƒณ๏ผˆKallmann๏ผ‰็—‡ๅ€™็พคใฏใ€ใ“ใฎLHRHใƒ‹ใƒฅใƒผใƒญใƒณใฎ้Š่ตฐใ‚„ๅˆ†ๅธƒใซ้šœๅฎณใŒใŠใ“ใ‚‹ใŸใ‚ใซใ€LHRHๅˆ†ๆณŒใŒๆฌ ๅฆ‚ใพใŸใฏไธๅๅˆ†ใจใชใ‚Šใ€ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ใใŸใ™ใ€‚ใ•ใ‚‰ใซๅ—…็ƒใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€็„กๅ—…็—‡ใ‚„ไฝŽๅ—…็—‡ใ‚’ไฝต็™บใ™ใ‚‹ใ€‚ใพใŸใ€่…Žๅฝขๆˆ็•ฐๅธธใ‚„้›ฃ่ดใ€ๅฃๅ”‡ๅฃ่“‹่ฃ‚ใชใฉใฎๅˆไฝตใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ‚ซใƒซใƒžใƒณ(Kallmann)็—‡ๅ€™็พคไปฅๅค–ใฎไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใงใฏใ€ไบŒๆฌกๆ€งๅพด้–‹ๅง‹ใซ้–ขใ‚ใ‚‹้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€งใฎใ‚‚ใฎใจใ€่„ณๅ†…ๅ™จ่ณชๆ€ง็–พๆ‚ฃใ‚„ๆ”พๅฐ„็ทš็…งๅฐ„ใชใฉใซใ‚ˆใ‚‹ๅพŒๅคฉๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200382" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypogonadotropic hypogonadism"@en, "ใฆใ„ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๅˆ†ๆณŒไฝŽไธ‹็—‡"@ja ; + skos:closeMatch obo:MONDO_0018555 ; + skos:prefLabel "ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200383 - :hasNotificationNumber "20" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200383" ; - terms:source ; + + nando:hasNotificationNumber "20" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200383" ; + dcterms:source ; a owl:Class ; - rdfs:label "Testicular dysgenesis"@en, "็ฒพๅทฃๅฝขๆˆไธๅ…จ"@ja ; + rdfs:label "Testicular dysgenesis"@en, "ใ›ใ„ใใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“"@ja-Hira, "็ฒพๅทฃๅฝขๆˆไธๅ…จ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005437 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005437 ; skos:prefLabel "็ฒพๅทฃๅฝขๆˆไธๅ…จ"@ja . -:2200384 - :hasNotificationNumber "21" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๅตๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200384" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๅตๅทฃใฎ็™บ็”Ÿใƒปๅˆ†ๅŒ–้Ž็จ‹ใฎ้šœๅฎณใซใ‚ˆใ‚ŠๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200384" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ovarian dysgenesis"@en, "ๅตๅทฃๅฝขๆˆไธๅ…จ"@ja ; + rdfs:label "Ovarian dysgenesis"@en, "ใ‚‰ใ‚“ใใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“"@ja-Hira, "ๅตๅทฃๅฝขๆˆไธๅ…จ"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009299 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009299 ; skos:prefLabel "ๅตๅทฃๅฝขๆˆไธๅ…จ"@ja . -:2200385 - :hasNotificationNumber "22" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใ‚„ๅตๅทฃ่‡ชไฝ“ใŒๅŽŸๅ› ใงๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใƒปไธ‹ๅž‚ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซ็ฒพๅทฃใ‚„ๅตๅทฃใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็ฒพๅทฃใ‚„ๅตๅทฃใฎ็™บ็”Ÿใ€ๅˆ†ๅŒ–ใฎ้Ž็จ‹ใซๆ˜Žใ‚‰ใ‹ใช้šœๅฎณใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใฏ้™คๅค–ใ™ใ‚‹๏ผˆ็ฒพๅทฃๅฝขๆˆไธๅ…จใ€ๅตๅทฃๅฝขๆˆไธๅ…จใฎใƒšใƒผใ‚ธๅ‚็…ง๏ผ‰ใ€‚"@ja ; - terms:identifier "2200385" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏ็ฒพๅทฃใ‚„ๅตๅทฃ่‡ชไฝ“ใŒๅŽŸๅ› ใงๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๆฅใ—ใŸ็Šถๆ…‹ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚่ฆ–ๅบŠไธ‹้ƒจใƒปไธ‹ๅž‚ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไบŒๆฌก็š„ใซ็ฒพๅทฃใ‚„ๅตๅทฃใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๆฅใ™ไฝŽใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็ฒพๅทฃใ‚„ๅตๅทฃใฎ็™บ็”Ÿใ€ๅˆ†ๅŒ–ใฎ้Ž็จ‹ใซๆ˜Žใ‚‰ใ‹ใช้šœๅฎณใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใฏ้™คๅค–ใ™ใ‚‹๏ผˆ็ฒพๅทฃๅฝขๆˆไธๅ…จใ€ๅตๅทฃๅฝขๆˆไธๅ…จใฎใƒšใƒผใ‚ธๅ‚็…ง๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200385" ; + dcterms:source ; a owl:Class ; - rdfs:label "63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Hypergonadotropic hypogonadism of other etiologies"@en ; + rdfs:label "63ใŠใ‚ˆใณ64ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใ”ใชใฉใจใ‚ใดใ‚“ใ›ใ„ใ›ใ„ใ›ใ‚“ใใฎใ†ใฆใ„ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja, "Hypergonadotropic hypogonadism of other etiologies"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "63ๅŠใณ64ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณๆ€งๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡"@ja . -:2200386 - :hasNotificationNumber "22" ; - terms:identifier "2200386" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:2200386" ; + dcterms:source ; a owl:Class ; - rdfs:label "Klinefelterย syndrome"@en, "Klinefelter็—‡ๅ€™็พค"@ja ; + rdfs:label "Klinefelter syndrome"@en, "Klinefelter็—‡ๅ€™็พค"@ja, "ใ‚ฏใƒฉใ‚คใƒณใƒ•ใ‚งใƒซใ‚ฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006823 ; + rdfs:subClassOf ; + skos:altLabel "ใ‚ฏใƒฉใ‚คใƒณใƒ•ใ‚งใƒซใ‚ฟใƒผ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0006823 ; skos:prefLabel "Klinefelter็—‡ๅ€™็พค"@ja . -:2200387 - :hasNotificationNumber "53" ; - terms:description "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆovotesticular DSDใ€ไปฅๅ‰ใฎๅ‘ผ็งฐใงใฏ็œŸๆ€งๅŠ้™ฐ้™ฝ๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ๅ†…ใซๅตๅทฃ็ต„็น”ใจ็ฒพๅทฃ็ต„็น”ใŒๅŒๅดใ‚ใ‚‹ใ„ใฏๅฏพๅดใซๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็•ฐใชใ‚‹ๆ€ง่…บใฎ็ต„ใฟๅˆใ‚ใ›ใฏๅคšๆง˜ใงใ€ไธ€ๅดใŒ็ฒพๅทฃใงๅฏพๅดใŒๅตๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ20๏ผ…ใ€ไธ€ๅดใŒ็ฒพๅทฃใพใŸใฏๅตๅทฃใงๅฏพๅดใŒๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„50๏ผ…ใ€ไธกๅดใจใ‚‚ใซๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„30๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)ใ€‚ๆ ธๅž‹ใฏใ€ไบบ็จฎใซใ‚ˆใฃใฆๅทฎใ‚’่ชใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹125ไพ‹ใงใฎๆคœ่จŽใงใฏใ€46,XXใŒ61.6๏ผ…ใ€46,XYใŒ12.8๏ผ…ใ€46,XX/46,XYใŒ14.4๏ผ…ใงใ‚ใฃใŸใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚"@ja ; - terms:identifier "2200387" ; - terms:source ; - a owl:Class ; - rdfs:label "Ovotesticular dsd"@en, "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010766, mondo:MONDO_0016281 ; + + nando:hasNotificationNumber "53" ; + dcterms:description "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆovotesticular DSDใ€ไปฅๅ‰ใฎๅ‘ผ็งฐใงใฏ็œŸๆ€งๅŠ้™ฐ้™ฝ๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ๅ†…ใซๅตๅทฃ็ต„็น”ใจ็ฒพๅทฃ็ต„็น”ใŒๅŒๅดใ‚ใ‚‹ใ„ใฏๅฏพๅดใซๅญ˜ๅœจใ™ใ‚‹็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚็•ฐใชใ‚‹ๆ€ง่…บใฎ็ต„ใฟๅˆใ‚ใ›ใฏๅคšๆง˜ใงใ€ไธ€ๅดใŒ็ฒพๅทฃใงๅฏพๅดใŒๅตๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ20๏ผ…ใ€ไธ€ๅดใŒ็ฒพๅทฃใพใŸใฏๅตๅทฃใงๅฏพๅดใŒๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„50๏ผ…ใ€ไธกๅดใจใ‚‚ใซๅตๅทฃ็ฒพๅทฃใฎใ‚ฟใ‚คใƒ—ใŒ็ด„30๏ผ…ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)ใ€‚ๆ ธๅž‹ใฏใ€ไบบ็จฎใซใ‚ˆใฃใฆๅทฎใ‚’่ชใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใซใŠใ‘ใ‚‹125ไพ‹ใงใฎๆคœ่จŽใงใฏใ€46,XXใŒ61.6๏ผ…ใ€46,XYใŒ12.8๏ผ…ใ€46,XX/46,XYใŒ14.4๏ผ…ใงใ‚ใฃใŸใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200387" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ovotesticular dsd"@en, "ใ‚‰ใ‚“ใ›ใ„ใใ†ใ›ใ„ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Ovotesticular disorder of sex development"@en ; + skos:closeMatch obo:MONDO_0016281 ; skos:prefLabel "ๅต็ฒพๅทฃๆ€งๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja . -:2200388 - :hasNotificationNumber "51" ; - terms:description "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡๏ผˆmixed gonadal dysgenesis๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ใซใŠใ„ใฆ็ฒพๅทฃๆˆๅˆ†ใจ็ดข็Šถๆ€ง็ทšใŒๅ…ฑๅญ˜ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ใใ‚Œใซ้–ข้€ฃใ™ใ‚‹ๅ†…ๅค–ๆ€งๅ™จใฎๅˆ†ๅŒ–็•ฐๅธธใŒใฟใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹1)ใ€‚ไปฃ่กจ็š„ใชๆ ธๅž‹ใฏใ€45,X/46,XYใฎใƒขใ‚ถใ‚คใ‚ฏใงใ‚ใ‚‹ใŒใ€45,X/47,XYYใ‚„45,X/46,XY/47,XYYใฎๆ ธๅž‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200388" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡๏ผˆmixed gonadal dysgenesis๏ผ‰ใฏใ€ๅŒไธ€ๅ€‹ไฝ“ใซใŠใ„ใฆ็ฒพๅทฃๆˆๅˆ†ใจ็ดข็Šถๆ€ง็ทšใŒๅ…ฑๅญ˜ใ™ใ‚‹็Šถๆ…‹ใงใ‚ใ‚Šใ€ใใ‚Œใซ้–ข้€ฃใ™ใ‚‹ๅ†…ๅค–ๆ€งๅ™จใฎๅˆ†ๅŒ–็•ฐๅธธใŒใฟใ‚‰ใ‚Œใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹1)ใ€‚ไปฃ่กจ็š„ใชๆ ธๅž‹ใฏใ€45,X/46,XYใฎใƒขใ‚ถใ‚คใ‚ฏใงใ‚ใ‚‹ใŒใ€45,X/47,XYYใ‚„45,X/46,XY/47,XYYใฎๆ ธๅž‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200388" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mixed gonadal dysgenesis"@en, "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:label "Mixed gonadal dysgenesis"@en, "ใ“ใ‚“ใ”ใ†ใ›ใ„ใ›ใ„ใ›ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001969, mondo:MONDO_0015779 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001969, obo:MONDO_0015779 ; skos:prefLabel "ๆททๅˆๆ€งๆ€ง่…บ็•ฐๅฝขๆˆ็—‡"@ja . -:2200389 - :hasNotificationNumber "49" ; - terms:description "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200389" ; - terms:source ; + + nando:hasNotificationNumber "49" ; + dcterms:description "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200389" ; + dcterms:source ; a owl:Class ; - rdfs:label "5 alpha-reductase deficiency"@en, "5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009923 ; + rdfs:label "5 alpha-reductase deficiency"@en, "5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja, "5ใ‚ใ‚‹ใตใใ‹ใ‚“ใ’ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009923 ; skos:prefLabel "5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200390 - :hasNotificationNumber "48" ; - terms:description "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200390" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:description "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200390" ; + dcterms:source ; a owl:Class ; - rdfs:label "17 beta-hydroxysteroid dehydrogenase deficiency"@en, "17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "17 beta-hydroxysteroid dehydrogenase deficiency"@en, "17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja, "17ในใƒผใŸใฒใฉใ‚ใใ—ใ™ใฆใ‚ใ„ใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009916 ; skos:prefLabel "17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200391 - :hasNotificationNumber "47" ; - terms:description "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎไฝœ็”จ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200391" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "ๅตๅทฃ๏ฝฅ็ฒพๅทฃใ‚„ๆ€งๅ™จใฎ็™บ่‚ฒใŒ้žๅ…ธๅž‹็š„ใงใ‚ใ‚‹็Šถๆ…‹ใ‚’ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDisorders of Sex Development: DSD๏ผ‰ใจใ‚ˆใถใ€‚DSDใฏใ€ๅ‡บ็”Ÿๆ™‚ใฎๅค–้™ฐ้ƒจ็•ฐๅธธใ‚’ไธญๆ ธ็—‡็Šถใจใ™ใ‚‹ใŒใ€ๅบƒ็พฉใซใฏไบŒๆฌกๆ€งๅพดใฎ็™บๆฅ็•ฐๅธธใ‚‚ๅซใพใ‚Œใ‚‹ใ€‚ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใฏใ€ๆŸ“่‰ฒไฝ“ใŒ46, XYใง็ฒพๅทฃใฏๅญ˜ๅœจใ™ใ‚‹ใŒใ€ใƒŸใƒฅใƒฉใƒผ็ฎก็”ฑๆฅๆง‹้€ ็‰ฉ๏ผˆๅญๅฎฎ๏ผ‰ใฏๅญ˜ๅœจใ—ใชใ„46, XY DSDใฎไธ€ใคใงใ‚ใ‚‹ใ€‚้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใƒ›ใƒซใƒขใƒณใฎไฝœ็”จ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200391" ; + dcterms:source ; a owl:Class ; - rdfs:label "Androgen insensitivity syndrome"@en, "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡"@ja ; + rdfs:label "Androgen insensitivity syndrome"@en, "ใ‚ใ‚“ใฉใ‚ใ’ใ‚“ใตใŠใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019154 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019154 ; skos:prefLabel "ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡"@ja . -:2200392 - :hasNotificationNumber "50" ; - terms:description "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XYใฎใ‚‚ใฎใฎไธญใงใ€5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใ€17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡๏ผˆใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡๏ผ‰ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200392" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XYใฎใ‚‚ใฎใฎไธญใงใ€5ฮฑ-้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡ใ€ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณไธๅฟœ็—‡ใ€17ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€ๅ…ˆๅคฉๆ€งๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡๏ผˆใƒชใƒใ‚คใƒ‰ๅ‰ฏ่…Ž้Žๅฝขๆˆ็—‡ใ€3ฮฒ-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚นใƒ†ใƒญใ‚คใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใ€17ฮฑ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡ใ€P450้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ๆฌ ๆ็—‡๏ผ‰ใ‚’้™คๅค–ใ—ใŸ็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200392" ; + dcterms:source ; a owl:Class ; - rdfs:label "68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja, "Other disorders of sex development of 46,XY"@en ; + rdfs:label "68ใ‹ใ‚‰70ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,ใˆใฃใใ™ใ‚ใ„ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“"@ja-Hira, "68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja, "Other disorders of sex development of 46,XY"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "68ใ‹ใ‚‰70ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€46,XYๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja . -:2200393 - :hasNotificationNumber "52" ; - terms:description "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XXใฎใ‚‚ใฎใ€‚"@ja ; - terms:identifier "2200393" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:description "ๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ๏ผˆDSD๏ผ‰ใฎๅˆ†้กžใฎใ†ใกๆŸ“่‰ฒไฝ“ใฎๆ ธๅž‹ใŒ46,XXใฎใ‚‚ใฎใ€‚"@ja ; + dcterms:identifier "NANDO:2200393" ; + dcterms:source ; a owl:Class ; - rdfs:label "46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja ; + rdfs:label "46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja, "46,ใˆใฃใใ™ใˆใฃใใ™ใ›ใ„ใถใ‚“ใ‹ใ—ใฃใ‹ใ‚“"@ja-Hira, "Disorders of sex development of 46,XX"@en ; rdfs:seeAlso ; - rdfs:subClassOf . - -:2200394 - :hasNotificationNumber "42" ; - terms:description "่…ซ็˜ใ‹ใ‚‰ใฎVIPๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200394" ; - terms:source ; - a owl:Class ; - rdfs:label "VIP็”ฃ็”Ÿ่…ซ็˜"@ja, "Vipoma"@en ; + rdfs:subClassOf ; + skos:altLabel "46,XY DSD"@en ; + skos:closeMatch obo:MONDO_0020040, obo:MONDO_0020042 ; + skos:prefLabel "46,XXๆ€งๅˆ†ๅŒ–็–พๆ‚ฃ"@ja . + + + nando:hasNotificationNumber "42" ; + dcterms:description "่…ซ็˜ใ‹ใ‚‰ใฎVIPๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200394" ; + dcterms:source ; + a owl:Class ; + rdfs:label "VIP็”ฃ็”Ÿ่…ซ็˜"@ja, "Vipoma"@en, "ใถใ„ใ‚ใ„ใดใƒผใ•ใ‚“ใ›ใ„ใ—ใ‚…ใ‚ˆใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019960 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019960 ; skos:prefLabel "VIP็”ฃ็”Ÿ่…ซ็˜"@ja . -:2200395 - :hasNotificationNumber "40" ; - terms:description "่†ตใ€ๅไบŒๆŒ‡่…ธใซ็™บ็”Ÿใ™ใ‚‹ใ‚ฌใ‚นใƒˆใƒชใƒณ็”ฃ็”Ÿ่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฌใ‚นใƒˆใƒชใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200395" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "่†ตใ€ๅไบŒๆŒ‡่…ธใซ็™บ็”Ÿใ™ใ‚‹ใ‚ฌใ‚นใƒˆใƒชใƒณ็”ฃ็”Ÿ่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฌใ‚นใƒˆใƒชใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200395" ; + dcterms:source ; a owl:Class ; - rdfs:label "Gastrinoma"@en, "ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž"@ja ; + rdfs:label "Gastrinoma"@en, "ใŒใ™ใจใ‚Šใฎใƒผใพ"@ja-Hira, "ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003523, mondo:MONDO_0019610 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003523 ; skos:prefLabel "ใ‚ฌใ‚นใƒˆใƒชใƒŽใƒผใƒž"@ja . -:2200396 - :hasNotificationNumber "41" ; - terms:description "่…ซ็˜ใซใ‚ˆใ‚‹ๆดปๆ€งใ‚ขใƒŸใƒณ(ใ‚ปใƒญใƒˆใƒ‹ใƒณใ€ใƒ’ใ‚นใ‚ฟใƒŸใƒณ)ใ€ใ‚ฟใ‚ญใ‚ญใƒ‹ใƒณใ€ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณใชใฉ ใฎๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200396" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "่…ซ็˜ใซใ‚ˆใ‚‹ๆดปๆ€งใ‚ขใƒŸใƒณ(ใ‚ปใƒญใƒˆใƒ‹ใƒณใ€ใƒ’ใ‚นใ‚ฟใƒŸใƒณ)ใ€ใ‚ฟใ‚ญใ‚ญใƒ‹ใƒณใ€ใƒ—ใƒญใ‚นใ‚ฟใ‚ฐใƒฉใƒณใ‚ธใƒณใชใฉ ใฎๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200396" ; + dcterms:source ; a owl:Class ; - rdfs:label "Carcinoid syndrome"@en, "ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค"@ja ; + rdfs:label "Carcinoid syndrome"@en, "ใ‹ใ‚‹ใกใฎใ„ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005369, mondo:MONDO_0006689 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005369, obo:MONDO_0006689 ; skos:prefLabel "ใ‚ซใƒซใƒใƒŽใ‚คใƒ‰็—‡ๅ€™็พค"@ja . -:2200397 - :hasNotificationNumber "15" ; - terms:description "ไธปใซ่†ตใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฐใƒซใ‚ซใ‚ดใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200397" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "ไธปใซ่†ตใซ็™บ็”Ÿใ™ใ‚‹่…ซ็˜ใ‹ใ‚‰ใฎใ‚ฐใƒซใ‚ซใ‚ดใƒณๅˆ†ๆณŒ้Žๅ‰ฐใซใ‚ˆใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200397" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glucagonoma"@en, "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž"@ja ; + rdfs:label "Glucagonoma"@en, "ใใ‚‹ใ‹ใ”ใฎใƒผใพ"@ja-Hira, "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019959 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019959 ; skos:prefLabel "ใ‚ฐใƒซใ‚ซใ‚ดใƒŽใƒผใƒž"@ja . -:2200398 - :hasNotificationNumber "17" ; - terms:description "่†ตฮฒ็ดฐ่ƒž็”ฑๆฅใฎใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒๆ€ง่…บ่…ซใ€‚"@ja ; - terms:identifier "2200398" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "่†ตฮฒ็ดฐ่ƒž็”ฑๆฅใฎใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒๆ€ง่…บ่…ซใ€‚"@ja ; + dcterms:identifier "NANDO:2200398" ; + dcterms:source ; a owl:Class ; - rdfs:label "Insulinoma"@en, "ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž"@ja ; + rdfs:label "Insulinoma"@en, "ใ„ใ‚“ใ™ใ‚Šใฎใƒผใพ"@ja-Hira, "ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0024677 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024677 ; skos:prefLabel "ใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒž"@ja . -:2200399 - :hasNotificationNumber "18" ; - terms:description "ๅ…ˆๅคฉๆ€งใซ่†ตฮฒ็ดฐ่ƒžใฎไธ€้ƒจใพใŸใฏๅ…จ้ƒจใ‹ใ‚‰ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ใใŸใ—ใ€้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200399" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "ๅ…ˆๅคฉๆ€งใซ่†ตฮฒ็ดฐ่ƒžใฎไธ€้ƒจใพใŸใฏๅ…จ้ƒจใ‹ใ‚‰ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ใใŸใ—ใ€้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200399" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital hyperinsulinaemia"@en, "ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡"@ja ; + rdfs:label "Congenital hyperinsulinemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Congenital hyperinsulinaemia"@en ; + skos:closeMatch obo:MONDO_0005803, obo:MONDO_0017182 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡"@ja . -:2200400 - :hasNotificationNumber "19" ; - terms:description "ใ‚คใƒณใ‚นใƒชใƒณใฎ้Žๅ‰ฐใซใ‚ˆใฃใฆ้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใฎใ†ใกใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒžใ€ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใ€‚"@ja ; - terms:identifier "2200400" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ใ‚คใƒณใ‚นใƒชใƒณใฎ้Žๅ‰ฐใซใ‚ˆใฃใฆ้›ฃๆฒปๆ€งใฎไฝŽ่ก€็ณ–ใ‚’ใใŸใ™็–พๆ‚ฃใฎใ†ใกใ‚คใƒณใ‚นใƒชใƒŽใƒผใƒžใ€ๅ…ˆๅคฉๆ€ง้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€็—‡ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใ€‚"@ja ; + dcterms:identifier "NANDO:2200400" ; + dcterms:source ; a owl:Class ; - rdfs:label "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡"@ja, "Other hyperinsulinaemic hypoglycaemia"@en ; + rdfs:label "77ใŠใ‚ˆใณ78ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ“ใ†ใ„ใ‚“ใ™ใ‚Šใ‚“ใ‘ใฃใ›ใ„ใฆใ„ใ‘ใฃใจใ†ใ—ใ‚‡ใ†"@ja-Hira, "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡"@ja, "Other hyperinsulinemic hypoglycemia"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Other hyperinsulinaemic hypoglycaemia"@en ; skos:prefLabel "77ๅŠใณ78ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้ซ˜ใ‚คใƒณใ‚นใƒชใƒณ่ก€ๆ€งไฝŽ่ก€็ณ–็—‡"@ja . -:2200401 - :hasNotificationNumber "76" ; - terms:description "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…ใฏใ€้บไผๆ€งใซใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ใใŸใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‚ซๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ไฝๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD 1ฮฑไฝๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ(CYP27B1)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡Iๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR I๏ผ‰ใจ๏ผŒใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ(VDR)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡IIๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type II๏ผšVDDR II๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200401" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:description "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…ใฏใ€้บไผๆ€งใซใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผˆ้ชจ่ปŸๅŒ–็—‡๏ผ‰ใ‚’ใใŸใ™็–พๆ‚ฃใงใ€็”Ÿ็†้‡ใฎใƒ“ใ‚ฟใƒŸใƒณDใงใฏใใฎไฝœ็”จใŒไธ่ถณใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚้€šๅธธ็”ŸๅพŒๆ•ฐใ‚ซๆœˆไปฅๅ†…ใซใ€ใใ‚‹็—…ๆ‰€่ฆ‹ใ‚„ใ€ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใซใ‚ˆใ‚‹ใƒ†ใ‚ฟใƒ‹ใƒผใ‚„ใ‘ใ„ใ‚Œใ‚“ใง็™บ็—‡ใ™ใ‚‹ใ€‚่…Ž่‡“ใฎ25ไฝๆฐด้…ธๅŒ–ใƒ“ใ‚ฟใƒŸใƒณD 1ฮฑไฝๆฐด้…ธๅŒ–้…ต็ด ้บไผๅญ(CYP27B1)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDๆดปๆ€งๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡Iๅž‹๏ผˆVitamin D-dependent rickets, type 1๏ผšVDDR I๏ผ‰ใจ๏ผŒใƒ“ใ‚ฟใƒŸใƒณDๅ—ๅฎนไฝ“้บไผๅญ(VDR)ใฎไธๆดปๆ€งๅž‹ๅค‰็•ฐใซใ‚ˆใ‚Šใƒ“ใ‚ฟใƒŸใƒณDใฎไฝœ็”จใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡IIๅž‹๏ผˆ๏ผˆVitamin D-dependent rickets, type II๏ผšVDDR II๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200401" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vitamin d-dependent rickets"@en, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…"@ja ; + rdfs:label "Vitamin D-dependent rickets"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใ„ใžใ‚“ใ›ใ„ใใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005520, mondo:MONDO_0024299 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024299 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜ๆ€งใใ‚‹็—…"@ja . -:2200402 - :hasNotificationNumber "77" ; - terms:description "ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใฎ้€šๅธธ้‡ใงๆฒป็™’ใงใใชใ„้ชจ่ปŸๅŒ–็—‡ใฎ็ท็งฐใจใ—ใฆใ€ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ใจใ„ใ†็—…ๅใŒไฝฟ็”จใ•ใ‚Œใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€็นŠ็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23 (fibroblast growth factor 23: FGF23) ้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ†้บไผๆ€งไฝŽใƒชใƒณ่ก€ๆ€งใใ‚‹็—…ใ€่…ซ็˜ๆ€ง้ชจ่ปŸๅŒ–็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚้€šๅธธใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹๏ผˆใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใฎ้ …ๅ‚็…ง๏ผ‰ใ€‚็”ŸๅพŒใ€ๆ•ฐๅนดไปฅๅ†…ใซใใ‚‹็—…ใฎๅฝขใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„๏ผˆใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผ‰ใ€‚"@ja ; - terms:identifier "2200402" ; - terms:source ; + + nando:hasNotificationNumber "77" ; + dcterms:description "ๅคฉ็„ถๅž‹ใƒ“ใ‚ฟใƒŸใƒณDใฎ้€šๅธธ้‡ใงๆฒป็™’ใงใใชใ„้ชจ่ปŸๅŒ–็—‡ใฎ็ท็งฐใจใ—ใฆใ€ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡ใจใ„ใ†็—…ๅใŒไฝฟ็”จใ•ใ‚Œใ€ไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€็นŠ็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23 (fibroblast growth factor 23: FGF23) ้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€ง้ชจ่ปŸๅŒ–็—‡ใ€้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ๅฐฟ็—‡ใ‚’ไผดใ†้บไผๆ€งไฝŽใƒชใƒณ่ก€ๆ€งใใ‚‹็—…ใ€่…ซ็˜ๆ€ง้ชจ่ปŸๅŒ–็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚้€šๅธธใ€ใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใจใฏๅŒบๅˆฅใ•ใ‚Œใ‚‹๏ผˆใƒ“ใ‚ฟใƒŸใƒณDไพๅญ˜็—‡ใฎ้ …ๅ‚็…ง๏ผ‰ใ€‚็”ŸๅพŒใ€ๆ•ฐๅนดไปฅๅ†…ใซใใ‚‹็—…ใฎๅฝขใง็™บ็—‡ใ™ใ‚‹ใ“ใจใŒๅคšใ„๏ผˆใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€งใใ‚‹็—…๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200402" ; + dcterms:source ; a owl:Class ; - rdfs:label "Vitamin d resistant osteomalacia"@en, "ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Vitamin D-resistant osteomalacia"@en, "ใณใŸใฟใ‚“ใงใƒใƒผใฆใ„ใ“ใ†ใ›ใ„ใ“ใคใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0024300 ; skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณDๆŠตๆŠ—ๆ€ง้ชจ่ปŸๅŒ–็—‡"@ja . -:2200403 - :hasNotificationNumber "16" ; - terms:description "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใฏใ€่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใƒชใƒณๅ†ๅธๅŽใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅฐฟใƒชใƒณๆŽ’ๆณ„ใŒๅข—ๅŠ ใ—ใ€่ก€ๆธ…ใƒชใƒณๆฟƒๅบฆใŒไฝŽไธ‹ใ™ใ‚‹ไบ‹ใซใ‚ˆใ‚Šใใ‚‹็—…ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจ้ž้บไผๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅ‰่€…ใฏใ•ใ‚‰ใซใ€้บไผๅฝขๅผใŠใ‚ˆใณ็—‡็Šถใซใ‚ˆใ‚Šๆ•ฐ็จฎ้กžใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใ€็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23๏ผˆFGF23: Fibroblast growth factor 23๏ผ‰ใŒใƒชใƒณๅˆฉๅฐฟใ‚’ๆƒน่ตทใ™ใ‚‹ไธปๅ› ๅญใจใ—ใฆๅŒๅฎšใ•ใ‚Œใ€FGF23ใฎไธŠๆ˜‡ใซๅฏ„ใ‚‹ใใ‚‹็—…ใ‚’FGF23้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใจใ‚‚ๅ‘ผใถใ€‚้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ‚ใชใ„ไฝŽใƒชใƒณ่ก€็—‡ใฏๅพŒๅคฉๆ€งใซใ‚‚ใŠใ“ใ‚Šใ€่…ซ็˜ใซไผดใ†ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ๅข—ๅŠ ใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹ๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใชใฉใงใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200403" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใฏใ€่…Žๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใƒชใƒณๅ†ๅธๅŽใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€ๅฐฟใƒชใƒณๆŽ’ๆณ„ใŒๅข—ๅŠ ใ—ใ€่ก€ๆธ…ใƒชใƒณๆฟƒๅบฆใŒไฝŽไธ‹ใ™ใ‚‹ไบ‹ใซใ‚ˆใ‚Šใใ‚‹็—…ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๆ€งใจ้ž้บไผๆ€งใซๅˆ†ใ‘ใ‚‰ใ‚Œใ€ๅ‰่€…ใฏใ•ใ‚‰ใซใ€้บไผๅฝขๅผใŠใ‚ˆใณ็—‡็Šถใซใ‚ˆใ‚Šๆ•ฐ็จฎ้กžใฎ็–พๆ‚ฃใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใ€็ทš็ถญ่Šฝ็ดฐ่ƒžๅข—ๆฎ–ๅ› ๅญ23๏ผˆFGF23: Fibroblast growth factor 23๏ผ‰ใŒใƒชใƒณๅˆฉๅฐฟใ‚’ๆƒน่ตทใ™ใ‚‹ไธปๅ› ๅญใจใ—ใฆๅŒๅฎšใ•ใ‚Œใ€FGF23ใฎไธŠๆ˜‡ใซๅฏ„ใ‚‹ใใ‚‹็—…ใ‚’FGF23้–ข้€ฃไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…ใจใ‚‚ๅ‘ผใถใ€‚้ซ˜ใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ‚’ไผดใ‚ใชใ„ไฝŽใƒชใƒณ่ก€็—‡ใฏๅพŒๅคฉๆ€งใซใ‚‚ใŠใ“ใ‚Šใ€่…ซ็˜ใซไผดใ†ๅฐฟไธญใƒชใƒณๆŽ’ๆณ„ๅข—ๅŠ ใ€่–ฌๅ‰คใชใฉใซใ‚ˆใ‚‹ๅฐฟ็ดฐ็ฎกๆฉŸ่ƒฝ็•ฐๅธธใชใฉใงใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200403" ; + dcterms:source ; a owl:Class ; - rdfs:label "Primary hypophosphataemic rickets"@en, "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…"@ja ; + rdfs:label "Primary hypophosphatemic rickets"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใฆใ„ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใ›ใ„ใใ‚‹ใณใ‚‡ใ†"@ja-Hira, "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Primary hypophosphataemic rickets"@en ; + skos:closeMatch obo:MONDO_0024300 ; skos:prefLabel "ๅŽŸ็™บๆ€งไฝŽใƒชใƒณ่ก€็—‡ๆ€งใใ‚‹็—…"@ja . -:2200404 - :hasNotificationNumber "39" ; - terms:description "ๆ „้คŠ็Šถๆ…‹ใซ้–ขใ‚ใ‚‰ใšใ€่„‚่‚ช็ต„็น”ใŒๅ…จ่บซๆ€งใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆธ›ๅฐ‘ใƒปๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใ€‚ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€่„‚่ณช็•ฐๅธธใ‚’ใใŸใ—ใฆ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Ž็ธฎใฎๅˆ†ๅธƒใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใซใ‚ˆใ‚Šไธ‹่จ˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ใ€€ๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(1) ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆBerardinelli-Seip ็—‡ๅ€™็พค๏ผ‰(2) ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆLawrence ็—‡ๅ€™็พค๏ผ‰ใ€€๏ผ’ใ€€้ƒจๅˆ†็š„่„‚่‚ช่Ž็ธฎ็—‡(3) ๅ…ˆๅคฉๆ€ง๏ผˆๅฎถๆ—ๆ€ง๏ผ‰้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(4) ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; - terms:identifier "2200404" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "ๆ „้คŠ็Šถๆ…‹ใซ้–ขใ‚ใ‚‰ใšใ€่„‚่‚ช็ต„็น”ใŒๅ…จ่บซๆ€งใพใŸใฏๅฑ€ๆ‰€ๆ€งใซๆธ›ๅฐ‘ใƒปๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใ€‚ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎ่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€่„‚่ณช็•ฐๅธธใ‚’ใใŸใ—ใฆ็”Ÿๅ‘ฝไบˆๅพŒไธ่‰ฏใจใชใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚่Ž็ธฎใฎๅˆ†ๅธƒใ€ๅ…ˆๅคฉๆ€งใƒปๅพŒๅคฉๆ€งใซใ‚ˆใ‚Šไธ‹่จ˜ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ใ€€ๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(1) ๅ…ˆๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆBerardinelli-Seip ็—‡ๅ€™็พค๏ผ‰(2) ๅพŒๅคฉๆ€งๅ…จ่บซๆ€ง่„‚่‚ช่Ž็ธฎ็—‡๏ผˆLawrence ็—‡ๅ€™็พค๏ผ‰ใ€€๏ผ’ใ€€้ƒจๅˆ†็š„่„‚่‚ช่Ž็ธฎ็—‡(3) ๅ…ˆๅคฉๆ€ง๏ผˆๅฎถๆ—ๆ€ง๏ผ‰้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡(4) ๅพŒๅคฉๆ€ง้ƒจๅˆ†ๆ€ง่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + dcterms:identifier "NANDO:2200404" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lipodystrophy"@en, "ใ—ใผใ†ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "่„‚่‚ช่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "่„‚่‚ช็•ฐๆ „้คŠ็—‡"@ja ; + skos:closeMatch obo:MONDO_0006573 ; + skos:prefLabel "่„‚่‚ช่Ž็ธฎ็—‡"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:description "ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ€่†ตๆถˆๅŒ–็ฎกๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ€ไธ‹ๅž‚ไฝ“่…บ่…ซใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…บ่…ซใพใŸใฏ้Žๅฝขๆˆใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200405" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lipodystrophy"@en, "่„‚่‚ช็•ฐๆ „้คŠ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "่„‚่‚ช่Ž็ธฎ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0006573 ; - skos:prefLabel "่„‚่‚ช็•ฐๆ „้คŠ็—‡"@ja . - -:2200405 - :hasNotificationNumber "64" ; - terms:description "ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ€่†ตๆถˆๅŒ–็ฎกๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ€ไธ‹ๅž‚ไฝ“่…บ่…ซใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…บ่…ซใพใŸใฏ้Žๅฝขๆˆใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200405" ; - terms:source ; - a owl:Class ; - rdfs:label "Multiple endocrine neoplasia type 1"@en, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹"@ja ; + rdfs:label "Multiple endocrine neoplasia type 1"@en, "ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†1ใŒใŸ"@ja-Hira, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "MEN1"@en, "Wermer syndrome"@en, "Wermer็—‡ๅ€™็พค"@ja, "ใ‚ฆใ‚งใƒซใƒžใƒผ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007540 ; + skos:closeMatch obo:MONDO_0007540 ; skos:prefLabel "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹"@ja . -:2200406 - :hasNotificationNumber "65" ; - terms:description "็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…ซ็˜ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200406" ; - terms:source ; - a owl:Class ; - rdfs:label "Multiple endocrine neoplasia type 2"@en, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "MEN2"@en, "Sipple syndrome"@en, "Sipple็—‡ๅ€™็พค"@ja, "ใ‚ทใƒƒใƒ—ใƒซ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008234, mondo:MONDO_0019003 ; + + nando:hasNotificationNumber "65" ; + dcterms:description "็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€ๅ‰ฏ็”ฒ็Šถ่…บ่…ซ็˜ใ‚’ไธญๅฟƒใจใ—ใฆๅคš็™บๆ€งใซ่…ซ็˜ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200406" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Multiple endocrine neoplasia type 2"@en, "ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†2ใŒใŸ"@ja-Hira, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MEN 2"@en, "Sipple syndrome"@en, "Sipple็—‡ๅ€™็พค"@ja, "ใ‚ทใƒƒใƒ—ใƒซ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008234, obo:MONDO_0019003 ; skos:prefLabel "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2ๅž‹"@ja . -:2200407 - :hasNotificationNumber "66" ; - terms:description "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ใŠใ‚ˆใณ2ๅž‹ใซๅฑžใ•ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹Von Hippel-Lindau็—…ใŠใ‚ˆใณVon Recklinghausen็—…ใ€ใใฎไป–ใŒๅซใพใ‚Œใ‚‹๏ผˆใŸใ ใ—ใ€Von Recklinghausen็—…ใซใคใ„ใฆใฏ ็šฎ่†š็–พๆ‚ฃ11. ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… ใ‚’ๅ‚็…งใฎใ“ใจ๏ผ‰ใ€‚"@ja ; - terms:identifier "2200407" ; - terms:source ; + + nando:hasNotificationNumber "66" ; + dcterms:description "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹ใŒใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜1ๅž‹ใŠใ‚ˆใณ2ๅž‹ใซๅฑžใ•ใชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜ใ‚’่ชใ‚ใ‚‹Von Hippel-Lindau็—…ใŠใ‚ˆใณVon Recklinghausen็—…ใ€ใใฎไป–ใŒๅซใพใ‚Œใ‚‹๏ผˆใŸใ ใ—ใ€Von Recklinghausen็—…ใซใคใ„ใฆใฏ ็šฎ่†š็–พๆ‚ฃ11. ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—… ใ‚’ๅ‚็…งใฎใ“ใจ๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200407" ; + dcterms:source ; a owl:Class ; - rdfs:label "84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜"@ja, "Multiple endocrine neoplasia"@en ; + rdfs:label "84ใŠใ‚ˆใณ85ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใŸใฏใคใ›ใ„ใชใ„ใถใ‚“ใดใคใ—ใ‚…ใ‚ˆใ†"@ja-Hira, "84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜"@ja, "Other multiple endocrine neoplasia"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017169 ; + rdfs:subClassOf ; skos:prefLabel "84ๅŠใณ85ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜"@ja . -:2200408 - :hasNotificationNumber "66" ; - terms:identifier "2200408" ; - terms:source ; + + nando:hasNotificationNumber "66" ; + dcterms:identifier "NANDO:2200408" ; + dcterms:source ; a owl:Class ; - rdfs:label "Von Hippel-Lindau็—…"@ja, "Von Hippelโ€“Lindau disease"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Von Hippel-Lindau disease"@en, "Von Hippel-Lindau็—…"@ja, "ใตใ‰ใ‚“ใฒใฃใบใ‚‹ใ‚Šใ‚“ใฉใ†ใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008667 ; skos:prefLabel "Von Hippel-Lindau็—…"@ja . -:2200409 - :hasNotificationNumber "63" ; - terms:description "1935ๅนดใซใ€ไธกๅดๅตๅทฃใฎๅคšๅšข่ƒžๆ€ง่…ซๅคงใจ่‚ฅๆบ€ใƒป็”ทๆ€งๅŒ–ๅพดๅ€™ใ‚’ไผดใ†ๆœˆ็ตŒ็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹Stein-Leventhal็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ไปฅๅพŒ๏ฝคๆˆไบบใซใŠใ„ใฆใฏๆŽ’ๅต้šœๅฎณใ‚’ไผดใ†็—‡ๅ€™็พคใจใ—ใฆไธ€่ˆฌๅŒ–ใ—ใŸใŒใ€ๅฟ…ใšใ—ใ‚‚็‰นๅพด็š„ๅพดๅ€™ใ‚’ๆœ‰ใ•ใชใ„PCOS็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๅŸบๆบ–ใŒๆ›–ๆ˜งใจใชใฃใฆใ„ใŸใ€‚ๆตทๅค–ใงใฏ1990ๅนดใซNIHใŒๆŽ’ๅต้šœๅฎณใจ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใฎไบŒใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†่จบๆ–ญๅŸบๆบ–ใ‚’ไฝœๆˆใ—ใ€2003ๅนดใซESHRE/ASRMใฎใ€ใ„ใ‚ใ‚†ใ‚‹Rotterdam CriteriaใŒ็ญ–ๅฎšใ•ใ‚Œใ€ๆŽ’ๅต้šœๅฎณใ€้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎใ†ใกไบŒใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจใ—ใ€ใ“ใ‚ŒใŒไธ–็•Œ็š„ใซใฏๆœ€ใ‚‚ๅคšใไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2009ๅนดใซใฏAES๏ผˆAndrogen Excess Society๏ผ‰ใŒ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ‚’่ชใ‚ใชใ„PCOSใฎๅญ˜ๅœจใซ็–‘ๅ•ใ‚’ๅ‘ˆใ—ใ€ๆœชใ ่ญฐ่ซ–ใฏ็ถ™็ถšใ—ใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆ–นๆœฌ้‚ฆใงใฏใ€ๆฌง็ฑณใจใฎ่กจ็พๅž‹ใŒ็•ฐใชใ‚‹ใ“ใจใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€็‰นใซ่‚ฅๆบ€ใ‚’ไผดใ†ไพ‹ใŒๅฐ‘ใชใ„ใ“ใจใ€ๆฑใ‚ขใ‚ธใ‚ข็ณปใงใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใงใ‚‚ๅคšๆฏ›ใ‚’ๆฅใ•ใชใ„ไพ‹ใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€ๆฌง็ฑณใฎๅฎš็พฉใ‚’ใใฎใพใพๅฝ“ใฆใฏใ‚ใ‚‹ใ“ใจใซใฏ็„ก็†ใŒใ‚ใฃใŸใ€‚ใใ“ใงๆ—ฅๆœฌ็”ฃๅฉฆไบบ็ง‘ๅญฆไผšใฏใ€1993ๅนดใซ็”ŸๅŒ–ๅญฆใƒ‡ใƒผใ‚ฟใ‚’็››ใ‚Š่พผใฟ๏ฝคๆŽ’ๅต้šœๅฎณใ€้ซ˜LHใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ใ—ใ‹ใ—ใ€LHๆธฌๅฎš็ณปใฎๅ•้กŒใชใฉใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ€2007ๅนดใซใฏใ“ใ‚Œใ‚’ๆ”นๅฎšใ—ใ€ๆœˆ็ตŒ็•ฐๅธธ๏ผˆๆŽ’ๅต้šœๅฎณ๏ผ‰ใ€้ซ˜LHใพใŸใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใ€ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚"@ja ; - terms:identifier "2200409" ; - terms:source ; + + nando:hasNotificationNumber "63" ; + dcterms:description "1935ๅนดใซใ€ไธกๅดๅตๅทฃใฎๅคšๅšข่ƒžๆ€ง่…ซๅคงใจ่‚ฅๆบ€ใƒป็”ทๆ€งๅŒ–ๅพดๅ€™ใ‚’ไผดใ†ๆœˆ็ตŒ็•ฐๅธธใ‚’ไธปๅพดใจใ™ใ‚‹Stein-Leventhal็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ไปฅๅพŒ๏ฝคๆˆไบบใซใŠใ„ใฆใฏๆŽ’ๅต้šœๅฎณใ‚’ไผดใ†็—‡ๅ€™็พคใจใ—ใฆไธ€่ˆฌๅŒ–ใ—ใŸใŒใ€ๅฟ…ใšใ—ใ‚‚็‰นๅพด็š„ๅพดๅ€™ใ‚’ๆœ‰ใ•ใชใ„PCOS็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๅŸบๆบ–ใŒๆ›–ๆ˜งใจใชใฃใฆใ„ใŸใ€‚ๆตทๅค–ใงใฏ1990ๅนดใซNIHใŒๆŽ’ๅต้šœๅฎณใจ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใฎไบŒใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†่จบๆ–ญๅŸบๆบ–ใ‚’ไฝœๆˆใ—ใ€2003ๅนดใซESHRE/ASRMใฎใ€ใ„ใ‚ใ‚†ใ‚‹Rotterdam CriteriaใŒ็ญ–ๅฎšใ•ใ‚Œใ€ๆŽ’ๅต้šœๅฎณใ€้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎใ†ใกไบŒใคใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจใ—ใ€ใ“ใ‚ŒใŒไธ–็•Œ็š„ใซใฏๆœ€ใ‚‚ๅคšใไฝฟ็”จใ•ใ‚Œใฆใ„ใ‚‹ใ€‚2009ๅนดใซใฏAES๏ผˆAndrogen Excess Society๏ผ‰ใŒ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใ‚’่ชใ‚ใชใ„PCOSใฎๅญ˜ๅœจใซ็–‘ๅ•ใ‚’ๅ‘ˆใ—ใ€ๆœชใ ่ญฐ่ซ–ใฏ็ถ™็ถšใ—ใฆใ„ใ‚‹ใ€‚ใ€€ไธ€ๆ–นๆœฌ้‚ฆใงใฏใ€ๆฌง็ฑณใจใฎ่กจ็พๅž‹ใŒ็•ฐใชใ‚‹ใ“ใจใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€็‰นใซ่‚ฅๆบ€ใ‚’ไผดใ†ไพ‹ใŒๅฐ‘ใชใ„ใ“ใจใ€ๆฑใ‚ขใ‚ธใ‚ข็ณปใงใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณ่ก€็—‡ใงใ‚‚ๅคšๆฏ›ใ‚’ๆฅใ•ใชใ„ไพ‹ใŒๅคšใ„ใ“ใจใ‹ใ‚‰ใ€ๆฌง็ฑณใฎๅฎš็พฉใ‚’ใใฎใพใพๅฝ“ใฆใฏใ‚ใ‚‹ใ“ใจใซใฏ็„ก็†ใŒใ‚ใฃใŸใ€‚ใใ“ใงๆ—ฅๆœฌ็”ฃๅฉฆไบบ็ง‘ๅญฆไผšใฏใ€1993ๅนดใซ็”ŸๅŒ–ๅญฆใƒ‡ใƒผใ‚ฟใ‚’็››ใ‚Š่พผใฟ๏ฝคๆŽ’ๅต้šœๅฎณใ€้ซ˜LHใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚ใ—ใ‹ใ—ใ€LHๆธฌๅฎš็ณปใฎๅ•้กŒใชใฉใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ€2007ๅนดใซใฏใ“ใ‚Œใ‚’ๆ”นๅฎšใ—ใ€ๆœˆ็ตŒ็•ฐๅธธ๏ผˆๆŽ’ๅต้šœๅฎณ๏ผ‰ใ€้ซ˜LHใพใŸใฏ้ซ˜ใ‚ขใƒณใƒ‰ใƒญใ‚ฒใƒณใ€ๅตๅทฃใฎPCOๆ‰€่ฆ‹ใฎ3ใคใ‚’ๅฟ…ใšๆบ€ใŸใ™ใ€ใจใ„ใ†ๅŸบๆบ–ใ‚’่จญๅฎšใ—ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200409" ; + dcterms:source ; a owl:Class ; - rdfs:label "Polycystic ovary syndrome"@en, "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค"@ja ; + rdfs:label "Polycystic ovary syndrome"@en, "ใŸใฎใ†ใปใ†ใ›ใ„ใ‚‰ใ‚“ใใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008487 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008487 ; skos:prefLabel "ๅคšๅšข่ƒžๆ€งๅตๅทฃ็—‡ๅ€™็พค"@ja . -:2200410 - :hasNotificationNumber "88" ; - terms:description "45,Xใ‚’ไปฃ่กจใจใ™ใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใง๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใƒขใƒŽใ‚ฝใƒŸใƒผใฎไป–ใซ๏ผŒi(Xq), Xp-, Yp-ใชใฉใฎๆง‹้€ ็•ฐๅธธ๏ผŒใŠใ‚ˆใณ๏ผŒ็จฎใ€…ใฎใƒขใ‚ถใ‚คใ‚ฏใชใฉใŒๅซใพใ‚Œใ‚‹๏ผŽ่‡จๅบŠ็š„ใซใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ง่…บ็•ฐๅฝขๆˆ๏ผŒ็‰นๅพด็š„ๅฅ‡ๅฝขๅพดๅ€™ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œ๏ผŒใพใŸ๏ผŒ้ซ˜ๅบฆใฎๆต็”ฃ็Ž‡ใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽ็พๅœจ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใฎๆญฃ็ขบใชๅฎš็พฉใฏใชใ„ใŒ๏ผŒ้€šๅธธใฎๆŸ“่‰ฒไฝ“ๆคœๆŸปใง่ช่ญ˜ใ•ใ‚Œใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธใจไธŠ่จ˜ใฎ่‡จๅบŠ็—‡็Šถใฎๅฐ‘ใชใใจใ‚‚๏ผ‘ใคใŒๅญ˜ๅœจใ™ใ‚‹ใจใ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ—ใฆใ‚ˆใ„ใจ่€ƒใˆใ‚‹๏ผŽ็‰นใซ๏ผŒๅพŒ่ฟฐใฎใ‚ˆใ†ใซใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค็™บ็—‡ใฎ่ฒฌไปป้บไผๅญใฏXๆŸ“่‰ฒไฝ“็Ÿญ่…•ใจYๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซๅญ˜ๅœจใ™ใ‚‹ใŸใ‚๏ผŒๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆฌ ๅคฑใจ็‰นๅพด็š„่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใฏ่จบๆ–ญ็‰น็•ฐ็š„ใงใ‚ใ‚‹๏ผŽใ“ใฎๆ–‡่„ˆใ‹ใ‚‰SHOXใ‚’ๅซใ‚€ๆŸ“่‰ฒไฝ“ๆคœๆŸปใงๆคœๅ‡บใงใใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎๅพฎๅฐๆฌ ๅคฑใฏใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใŒ๏ผŒๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒๅญ˜ๅœจใ—ใฆใ‚‚่‡จๅบŠ็—‡็ŠถใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑ๏ผ‰ใ‚„๏ผŒ่‡จๅบŠ็—‡็ŠถใŒๅญ˜ๅœจใ—ใฆใ‚‚ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšSHOXใ‚’ๅซใ‚€ๅพฎๅฐๆฌ ๅคฑ๏ผ‰ใซใฏ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจใ„ใ†่จบๆ–ญใฏ้ฟใ‘ใ‚‹ในใใง๏ผŒๅ‰่€…ใฏXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑใซใ‚ˆใ‚‹ไบŒๆฌกๆ€ง็„กๆœˆ็ตŒ๏ผŒๅพŒ่€…ใฏ๏ผŒSHOX็•ฐๅธธ็—‡ใจ่จบๆ–ญใ™ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200410" ; - terms:source ; + + nando:hasNotificationNumber "88" ; + dcterms:description "45,Xใ‚’ไปฃ่กจใจใ™ใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใง๏ผŒ๏ผธๆŸ“่‰ฒไฝ“ใƒขใƒŽใ‚ฝใƒŸใƒผใฎไป–ใซ๏ผŒi(Xq), Xp-, Yp-ใชใฉใฎๆง‹้€ ็•ฐๅธธ๏ผŒใŠใ‚ˆใณ๏ผŒ็จฎใ€…ใฎใƒขใ‚ถใ‚คใ‚ฏใชใฉใŒๅซใพใ‚Œใ‚‹๏ผŽ่‡จๅบŠ็š„ใซใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ง่…บ็•ฐๅฝขๆˆ๏ผŒ็‰นๅพด็š„ๅฅ‡ๅฝขๅพดๅ€™ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œ๏ผŒใพใŸ๏ผŒ้ซ˜ๅบฆใฎๆต็”ฃ็Ž‡ใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽ็พๅœจ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใฎๆญฃ็ขบใชๅฎš็พฉใฏใชใ„ใŒ๏ผŒ้€šๅธธใฎๆŸ“่‰ฒไฝ“ๆคœๆŸปใง่ช่ญ˜ใ•ใ‚Œใ‚‹ๆŸ“่‰ฒไฝ“็•ฐๅธธใจไธŠ่จ˜ใฎ่‡จๅบŠ็—‡็Šถใฎๅฐ‘ใชใใจใ‚‚๏ผ‘ใคใŒๅญ˜ๅœจใ™ใ‚‹ใจใ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ—ใฆใ‚ˆใ„ใจ่€ƒใˆใ‚‹๏ผŽ็‰นใซ๏ผŒๅพŒ่ฟฐใฎใ‚ˆใ†ใซใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค็™บ็—‡ใฎ่ฒฌไปป้บไผๅญใฏXๆŸ“่‰ฒไฝ“็Ÿญ่…•ใจYๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซๅญ˜ๅœจใ™ใ‚‹ใŸใ‚๏ผŒๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ๆฌ ๅคฑใจ็‰นๅพด็š„่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใฏ่จบๆ–ญ็‰น็•ฐ็š„ใงใ‚ใ‚‹๏ผŽใ“ใฎๆ–‡่„ˆใ‹ใ‚‰SHOXใ‚’ๅซใ‚€ๆŸ“่‰ฒไฝ“ๆคœๆŸปใงๆคœๅ‡บใงใใ‚‹ๆ€งๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎๅพฎๅฐๆฌ ๅคฑใฏใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใŒ๏ผŒๆ€งๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒๅญ˜ๅœจใ—ใฆใ‚‚่‡จๅบŠ็—‡็ŠถใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑ๏ผ‰ใ‚„๏ผŒ่‡จๅบŠ็—‡็ŠถใŒๅญ˜ๅœจใ—ใฆใ‚‚ๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใŒ่ฆ‹ใ‚‰ใ‚Œใชใ„ใจใ๏ผˆไพ‹๏ผšSHOXใ‚’ๅซใ‚€ๅพฎๅฐๆฌ ๅคฑ๏ผ‰ใซใฏ๏ผŒใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พคใจใ„ใ†่จบๆ–ญใฏ้ฟใ‘ใ‚‹ในใใง๏ผŒๅ‰่€…ใฏXๆŸ“่‰ฒไฝ“้•ท่…•ๆฌ ๅคฑใซใ‚ˆใ‚‹ไบŒๆฌกๆ€ง็„กๆœˆ็ตŒ๏ผŒๅพŒ่€…ใฏ๏ผŒSHOX็•ฐๅธธ็—‡ใจ่จบๆ–ญใ™ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200410" ; + dcterms:source ; a owl:Class ; - rdfs:label "Turner syndrome"@en, "ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:label "Turner syndrome"@en, "ใŸใƒผใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Turner็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0019499 ; + skos:closeMatch obo:MONDO_0019499 ; skos:prefLabel "ใ‚ฟใƒผใƒŠใƒผ็—‡ๅ€™็พค"@ja . -:2200411 - :hasNotificationNumber "91" ; - terms:description "ใƒ—ใƒฉใƒ€ใƒผใ‚ฆใ‚คใƒชใƒผ็—‡ๅ€™็พค๏ผˆPWS๏ผ‰ใฏใ€1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚คใƒชใƒผใŒๅ ฑๅ‘Šใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธใซใฏ่‚ฅๆบ€ใ€็ณ–ๅฐฟ็—…ใ€ไฝŽ่บซ้•ทใ€ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใชใฉใŒใ€็ฅž็ตŒๅญฆ็š„็•ฐๅธธใซใฏ็™บ้”้…ๆปžใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€็‰น็•ฐใชๆ€งๆ ผ้šœๅฎณใƒป่กŒๅ‹•็•ฐๅธธใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200411" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:description "ใƒ—ใƒฉใƒ€ใƒผใ‚ฆใ‚คใƒชใƒผ็—‡ๅ€™็พค๏ผˆPWS๏ผ‰ใฏใ€1956ๅนดๅ†…ๅˆ†ๆณŒ็ง‘ๅŒปใฎใƒ—ใƒฉใƒ€ใƒผใจ็ฅž็ตŒ็ง‘ๅŒปใฎใ‚ฆใ‚คใƒชใƒผใŒๅ ฑๅ‘Šใ—ใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธใซใฏ่‚ฅๆบ€ใ€็ณ–ๅฐฟ็—…ใ€ไฝŽ่บซ้•ทใ€ๆ€ง่…บๆฉŸ่ƒฝไธๅ…จใชใฉใŒใ€็ฅž็ตŒๅญฆ็š„็•ฐๅธธใซใฏ็™บ้”้…ๆปžใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€็‰น็•ฐใชๆ€งๆ ผ้šœๅฎณใƒป่กŒๅ‹•็•ฐๅธธใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200411" ; + dcterms:source ; a owl:Class ; - rdfs:label "Prader-Willi syndrome"@en, "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Prader-Willi syndrome"@en, "ใทใ‚‰ใ ใƒผใƒปใ†ใƒใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Prader-Willi็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008300 ; + skos:closeMatch obo:MONDO_0008300 ; skos:prefLabel "ใƒ—ใƒฉใƒ€ใƒผใƒปใ‚ฆใ‚ฃใƒช็—‡ๅ€™็พค"@ja . -:2200412 - :hasNotificationNumber "92" ; - terms:description "็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใ€็ทš็ถญๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅพดๅ€™ใŒๆ˜Žใ‚‰ใ‹ใชๅ ดๅˆใจใ€ๅพใ€…ใซ่‡จๅบŠ็—‡็ŠถใŒ็พใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚Šใ€ไธ‰ไธปๅพดใŒใ™ในใฆๆƒใ‚ใชใ„ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚10ๆญณไปฅไธ‹ใฎๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใฏๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200412" ; - terms:source ; + + nando:hasNotificationNumber "92" ; + dcterms:description "็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใ€็ทš็ถญๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€ใ‚ดใƒŠใƒ‰ใƒˆใƒญใƒ”ใƒณ้žไพๅญ˜ๆ€งๆ€ๆ˜ฅๆœŸๆ—ฉ็™บ็—‡ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šๅพดๅ€™ใŒๆ˜Žใ‚‰ใ‹ใชๅ ดๅˆใจใ€ๅพใ€…ใซ่‡จๅบŠ็—‡็ŠถใŒ็พใ‚Œใ‚‹ๅ ดๅˆใŒใ‚ใ‚Šใ€ไธ‰ไธปๅพดใŒใ™ในใฆๆƒใ‚ใชใ„ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚10ๆญณไปฅไธ‹ใฎๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚็šฎ่†šใ‚ซใƒ•ใ‚งใ‚ชใƒฌๆ–‘ใฏๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200412" ; + dcterms:source ; a owl:Class ; - rdfs:label "McCune-Albright syndrome"@en, "ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "McCune-Albright syndrome"@en, "ใพใฃใใ‚…ใƒผใ‚“ใƒปใŠใ‚‹ใถใ‚‰ใ„ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "McCune-Albright็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0018919 ; + skos:closeMatch obo:MONDO_0018919 ; skos:prefLabel "ใƒžใƒƒใ‚ญใƒฅใƒผใƒณใƒปใ‚ชใƒซใƒ–ใƒฉใ‚คใƒˆ็—‡ๅ€™็พค"@ja . -:2200413 - :hasNotificationNumber "89" ; - terms:description "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พคใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ๆ˜ฅๆœŸ้…็™บ๏ผŒๅฟƒๅฅ‡ๅฝข๏ผŒ็‰นๅพด็š„ๅค–่กจๅฅ‡ๅฝข๏ผˆ็œผ้–“ไน–้›ข๏ผŒ็ฟผ็Šถ้ š๏ผŒๅค–ๅ่‚˜ใชใฉ๏ผ‰ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅ…ˆๅคฉๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹๏ผŽ็Ÿฅ่ƒฝไฝŽไธ‹๏ผŒ้›ฃ่ด๏ผŒๅ‡บ่ก€ๆ€ง็ด ๅ› ๏ผŒ็”ทๅ…ๅค–ๆ€งๅ™จๅฝขๆˆ้šœๅฎณใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œ๏ผŒ่ƒŽๅ…ๆฐด่…ซใ‚„็™ฝ่ก€็—…๏ผˆ็‰นใซjuvenile myelomonocytic leukemia, JMML๏ผ‰ใ€ใ•ใ‚‰ใซใฏๅ›บๅฝข่…ซ็˜ใ‚‚ใจใใซๅ‡บ็พใ™ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200413" ; - terms:source ; + + nando:hasNotificationNumber "89" ; + dcterms:description "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พคใฏ๏ผŒไฝŽ่บซ้•ท๏ผŒๆ€ๆ˜ฅๆœŸ้…็™บ๏ผŒๅฟƒๅฅ‡ๅฝข๏ผŒ็‰นๅพด็š„ๅค–่กจๅฅ‡ๅฝข๏ผˆ็œผ้–“ไน–้›ข๏ผŒ็ฟผ็Šถ้ š๏ผŒๅค–ๅ่‚˜ใชใฉ๏ผ‰ใซใ‚ˆใ‚Š็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ๅ…ˆๅคฉๅฅ‡ๅฝข็—‡ๅ€™็พคใงใ‚ใ‚‹๏ผŽ็Ÿฅ่ƒฝไฝŽไธ‹๏ผŒ้›ฃ่ด๏ผŒๅ‡บ่ก€ๆ€ง็ด ๅ› ๏ผŒ็”ทๅ…ๅค–ๆ€งๅ™จๅฝขๆˆ้šœๅฎณใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œ๏ผŒ่ƒŽๅ…ๆฐด่…ซใ‚„็™ฝ่ก€็—…๏ผˆ็‰นใซjuvenile myelomonocytic leukemia, JMML๏ผ‰ใ€ใ•ใ‚‰ใซใฏๅ›บๅฝข่…ซ็˜ใ‚‚ใจใใซๅ‡บ็พใ™ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200413" ; + dcterms:source ; a owl:Class ; - rdfs:label "Noonan syndrome"@en, "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Noonan syndrome"@en, "ใฌใƒผใชใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Noonan็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008104, mondo:MONDO_0018997 ; + skos:closeMatch obo:MONDO_0018997 ; skos:prefLabel "ใƒŒใƒผใƒŠใƒณ็—‡ๅ€™็พค"@ja . -:2200414 - :hasNotificationNumber "90" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏ่‚ฅๆบ€ใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ€ๆ…ขๆ€ง่…Ž้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅคšๆŒ‡็—‡ใƒปๅˆๆŒ‡็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹่‚็กฌๅค‰ใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใƒญใƒผใƒฌใƒณใ‚นใƒปใƒ ใƒผใƒณใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒ ๅคšใ„ใŒใ€ใใ‚Œใฏไธ–็•Œ็š„ใซใฏ่‚ฅๆบ€ใฎใชใ„ๅˆฅใฎ็–พๆ‚ฃใ‚’ๆŒ‡ใ™ใจใ•ใ‚Œใ‚‹ใ€‚้€šๅธธใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่จบๆ–ญใ•ใ‚Œใ‚‹ใŒใ€ๆ™‚ใซๆˆไบบใซใชใฃใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200414" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏ่‚ฅๆบ€ใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใ€ๆ…ขๆ€ง่…Ž้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€ๅคšๆŒ‡็—‡ใƒปๅˆๆŒ‡็—‡ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹่‚็กฌๅค‰ใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใƒญใƒผใƒฌใƒณใ‚นใƒปใƒ ใƒผใƒณใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒ ๅคšใ„ใŒใ€ใใ‚Œใฏไธ–็•Œ็š„ใซใฏ่‚ฅๆบ€ใฎใชใ„ๅˆฅใฎ็–พๆ‚ฃใ‚’ๆŒ‡ใ™ใจใ•ใ‚Œใ‚‹ใ€‚้€šๅธธใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่จบๆ–ญใ•ใ‚Œใ‚‹ใŒใ€ๆ™‚ใซๆˆไบบใซใชใฃใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200414" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bardet-Biedl syndrome"@en, "ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Bardet-Biedl syndrome"@en, "ใฐใ‚‹ใงใƒผใƒปใณใƒผใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Bardet-Biedl็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0014432, mondo:MONDO_0015229 ; + skos:closeMatch obo:MONDO_0015229 ; skos:prefLabel "ใƒใƒซใƒ‡ใƒผใƒปใƒ“ใƒผใƒ‰ใƒซ็—‡ๅ€™็พค"@ja . -:2200415 - :hasNotificationNumber "8" ; - terms:description "ไปฅๅ‰ใฏ ่‹ฅๅนดๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจๅ‘ผใฐใ‚ŒใŸ็—…ๆ…‹ใ‚’ๅซใ‚€ใ€‚ๅ›ฝ้š›ใƒชใ‚ฆใƒžใƒๅญฆไผš๏ผˆInternational Leagues of associations for Rheumatism: ILAR๏ผ‰ใฎๅฐๅ…ใƒชใ‚ฆใƒžใƒๅธธไปปๅง”ๅ“กไผšใŒ1994ๅนดใฎSantiagoไผš่ญฐใซใŠใ„ใฆใ€Œ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—ใ€6้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้–ข็ฏ€็‚Žใงใ€ไป–ใฎ็—…ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใ€ใ‚’่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis: JIA๏ผ‰ใจๅฎš็พฉใ—ใŸใ€‚ใใฎๅพŒ1997ๅนดใฎDurbanๆ”น่จ‚ใ€2001ๅนดใฎEdmontonๆ”น่จ‚ใ‚’็ตŒใฆใ€็พๅœจILARๅˆ†้กžใฏๅฐๅ…ใฎๆ…ขๆ€ง้–ข็ฏ€็‚Žใฎๅ›ฝ้š›ๅŸบๆบ–ใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€ILARๅˆ†้กžใฏJIAใ‚’ไธ‹่จ˜ใฎ7็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€€ๆœฌ้‚ฆใซใŠใ„ใฆใ‚‚ใ€ๆ—ฅๆœฌๅฐๅ…ใƒชใ‚ฆใƒžใƒๅญฆไผšใŒไธŠ่จ˜ๅˆ†้กžใซใ‚‚ใจใฅใใ€Œ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽๅˆๆœŸ่จบ็™‚ใฎๆ‰‹ๅผ•ใ๏ผˆ2007ๅนด๏ผ‰ใ€ใ‚’ไฝœๆˆใ—ใŸใ€‚ใ—ใ‹ใ—ใ€็™บ็—‡ๆ—ฉๆœŸใซใฏILARๅˆ†้กžใ‚’็”จใ„ใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใŸใ‚ใ€ๆœฌ้‚ฆใฎๅฐๅ…่จบ็™‚ใฎๅฎŸๆƒ…ใซๅˆใ‚ใ›ใ€ๆ–ฐใŸใซใ€Ž่จบๆ–ญใฎๆ‰‹ๅผ•ใใ€ใ‚’็ญ–ๅฎšใ—ใŸใ€‚่กจ๏ผš่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽILARๅˆ†้กž๏ผˆ2001๏ผ‰"@ja ; - terms:identifier "2200415" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ไปฅๅ‰ใฏ ่‹ฅๅนดๆ€ง้–ข็ฏ€ใƒชใ‚ฆใƒžใƒใจๅ‘ผใฐใ‚ŒใŸ็—…ๆ…‹ใ‚’ๅซใ‚€ใ€‚ๅ›ฝ้š›ใƒชใ‚ฆใƒžใƒๅญฆไผš๏ผˆInternational Leagues of associations for Rheumatism: ILAR๏ผ‰ใฎๅฐๅ…ใƒชใ‚ฆใƒžใƒๅธธไปปๅง”ๅ“กไผšใŒ1994ๅนดใฎSantiagoไผš่ญฐใซใŠใ„ใฆใ€Œ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—ใ€6้€ฑ้–“ไปฅไธŠๆŒ็ถšใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้–ข็ฏ€็‚Žใงใ€ไป–ใฎ็—…ๅ› ใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’้™คๅค–ใ—ใŸใ‚‚ใฎใ€ใ‚’่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆjuvenile idiopathic arthritis: JIA๏ผ‰ใจๅฎš็พฉใ—ใŸใ€‚ใใฎๅพŒ1997ๅนดใฎDurbanๆ”น่จ‚ใ€2001ๅนดใฎEdmontonๆ”น่จ‚ใ‚’็ตŒใฆใ€็พๅœจILARๅˆ†้กžใฏๅฐๅ…ใฎๆ…ขๆ€ง้–ข็ฏ€็‚Žใฎๅ›ฝ้š›ๅŸบๆบ–ใจใชใฃใฆใ„ใ‚‹ใ€‚ใ€€ILARๅˆ†้กžใฏJIAใ‚’ไธ‹่จ˜ใฎ7็—…ๅž‹ใซๅˆ†้กžใ—ใฆใ„ใ‚‹ใ€€ๆœฌ้‚ฆใซใŠใ„ใฆใ‚‚ใ€ๆ—ฅๆœฌๅฐๅ…ใƒชใ‚ฆใƒžใƒๅญฆไผšใŒไธŠ่จ˜ๅˆ†้กžใซใ‚‚ใจใฅใใ€Œ่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽๅˆๆœŸ่จบ็™‚ใฎๆ‰‹ๅผ•ใ๏ผˆ2007ๅนด๏ผ‰ใ€ใ‚’ไฝœๆˆใ—ใŸใ€‚ใ—ใ‹ใ—ใ€็™บ็—‡ๆ—ฉๆœŸใซใฏILARๅˆ†้กžใ‚’็”จใ„ใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใฏๅ›ฐ้›ฃใงใ‚ใ‚‹ใŸใ‚ใ€ๆœฌ้‚ฆใฎๅฐๅ…่จบ็™‚ใฎๅฎŸๆƒ…ใซๅˆใ‚ใ›ใ€ๆ–ฐใŸใซใ€Ž่จบๆ–ญใฎๆ‰‹ๅผ•ใใ€ใ‚’็ญ–ๅฎšใ—ใŸใ€‚่กจ๏ผš่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚ŽILARๅˆ†้กž๏ผˆ2001๏ผ‰"@ja ; + dcterms:identifier "NANDO:2200415" ; + dcterms:source ; a owl:Class ; - rdfs:label "juvenile idiopathic arthritis"@en, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "JIA"@en ; - skos:closeMatch mondo:MONDO_0011429 ; + skos:closeMatch obo:MONDO_0011429 ; skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja . -:2200416 - :hasNotificationNumber "9" ; - terms:description "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นsystemic lupus erythematosus (SLE)ใฏใ€็ด…ๆ–‘ๆ€ง็‹ผ็˜ก๏ผˆใ“ใ†ใฏใ‚“ใ›ใ„ใ‚ใ†ใใ†๏ผ‰lupus erythematosusใจใ‚ˆใฐใ‚Œใ‚‹็šฎ็–นใ‚’็‰นๅพดใจใ—ใ€็™บ็†ฑใ‚„ๅ€ฆๆ€ ๆ„Ÿใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚Šใ€ๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใ‹ใ‚‰ใชใ‚‹ๅ…็–ซ่ค‡ๅˆไฝ“ใŒ่ก€็ฎกใซๆฒˆ็€ใ—ใ€่ฃœไฝ“็ณปใ‚’ๆดปๆ€งๅŒ–ใ—ใฆ่ก€็ฎกใ‚„็ต„็น”ใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ“ใจใงใ€็šฎ่†š(็šฎ็–น)ใ€่…Ž่‡“(ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž)ใ€ไธญๆžข็ฅž็ตŒ็ณป(CNSใƒซใƒผใƒ—ใ‚น)ใชใฉใซๅคšๅฝฉใช่‡“ๅ™จ็—…ๅค‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใ€€ๅฐๅ…SLEใจใฏ16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใŒใ€ๆˆไบบไพ‹ใจๆฏ”ในใฆไธ€่ˆฌใซ็ตŒ้Žใฏๆ€ฅๆ€งใง้‡็—‡ไพ‹ใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200416" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚นsystemic lupus erythematosus (SLE)ใฏใ€็ด…ๆ–‘ๆ€ง็‹ผ็˜ก๏ผˆใ“ใ†ใฏใ‚“ใ›ใ„ใ‚ใ†ใใ†๏ผ‰lupus erythematosusใจใ‚ˆใฐใ‚Œใ‚‹็šฎ็–นใ‚’็‰นๅพดใจใ—ใ€็™บ็†ฑใ‚„ๅ€ฆๆ€ ๆ„Ÿใชใฉใฎๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚Šใ€ๆŠ—DNAๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“ใ‹ใ‚‰ใชใ‚‹ๅ…็–ซ่ค‡ๅˆไฝ“ใŒ่ก€็ฎกใซๆฒˆ็€ใ—ใ€่ฃœไฝ“็ณปใ‚’ๆดปๆ€งๅŒ–ใ—ใฆ่ก€็ฎกใ‚„็ต„็น”ใ‚’ๅ‚ทๅฎณใ™ใ‚‹ใ“ใจใงใ€็šฎ่†š(็šฎ็–น)ใ€่…Ž่‡“(ใƒซใƒผใƒ—ใ‚น่…Ž็‚Ž)ใ€ไธญๆžข็ฅž็ตŒ็ณป(CNSใƒซใƒผใƒ—ใ‚น)ใชใฉใซๅคšๅฝฉใช่‡“ๅ™จ็—…ๅค‰ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ใ€€ๅฐๅ…SLEใจใฏ16ๆญณๆœชๆบ€ใซ็™บ็—‡ใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใŒใ€ๆˆไบบไพ‹ใจๆฏ”ในใฆไธ€่ˆฌใซ็ตŒ้Žใฏๆ€ฅๆ€งใง้‡็—‡ไพ‹ใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200416" ; + dcterms:source ; a owl:Class ; - rdfs:label "systemic lupus erythematosus"@en, "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Systemic lupus erythematosus"@en, "ใœใ‚“ใ—ใ‚“ใ›ใ„ใˆใ‚Šใฆใพใจใƒผใงใ™"@ja-Hira, "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "SLE"@en ; - skos:closeMatch mondo:MONDO_0007915 ; + skos:closeMatch obo:MONDO_0007915 ; skos:prefLabel "ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น"@ja . -:2200417 - :hasNotificationNumber "10" ; - terms:description "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž(JDM)ใฏ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—็‰นๅพด็š„ใช็šฎ็–นใจๅฏพ็งฐ็š„็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็šฎ่†šใŠใ‚ˆใณ็ญ‹่‚‰ใฎ็—‡็ŠถใŒๅ…ฑใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใฏๅคๅ…ธ็š„JDMใจใ™ใ‚‹๏ผŽJDMใฏ็—…ๆ…‹ใ‚„ไบˆๅพŒใชใฉใฎ้•ใ„ใ‹ใ‚‰ๆˆไบบใฎ็šฎ่†š็ญ‹็‚Ž(DM)ใจใฏๅˆ†ใ‘ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽๅ…ธๅž‹็š„ใช็šฎ่†šๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใชใŒใ‚‰ๆ˜Žใ‚‰ใ‹ใช็ญ‹็—‡็Šถใ‚’่ชใ‚ใชใ„ใ‚‚ใฎ่‹ฅๅนด็™บ็—‡่‡จๅบŠ็š„็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž(juvenile-onset clinically amyopathic dermatomyositis,JCADM)ใจใ•ใ‚Œ๏ผŒใ“ใ‚ŒใซใฏๆคœๆŸปไธŠ็ญ‹็‚Žใ‚’็คบใ™ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใจ่ชใ‚ใชใ„ๅ ดๅˆใŒใ‚ใ‚‹(่‡จๅบŠ็—‡็Šถใฎ้ …ใ‚’ๅ‚็…ง)๏ผŽใพใŸ็‚Ž็—‡ๆ€ง็ญ‹็‚Žใ‚’ๅ‘ˆใ—ใชใŒใ‚‰็šฎ่†š็—‡็Šถใ‚’ๆฌ ใใ‚‚ใฎใฏ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž(JPM)ใจใ•ใ‚Œใ‚‹ใŒๅฐๅ…ใซใŠใ„ใฆใฏใพใ‚Œใงใ‚ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200417" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž(JDM)ใฏ16ๆญณๆœชๆบ€ใง็™บ็—‡ใ—็‰นๅพด็š„ใช็šฎ็–นใจๅฏพ็งฐ็š„็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็šฎ่†šใŠใ‚ˆใณ็ญ‹่‚‰ใฎ็—‡็ŠถใŒๅ…ฑใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใฏๅคๅ…ธ็š„JDMใจใ™ใ‚‹๏ผŽJDMใฏ็—…ๆ…‹ใ‚„ไบˆๅพŒใชใฉใฎ้•ใ„ใ‹ใ‚‰ๆˆไบบใฎ็šฎ่†š็ญ‹็‚Ž(DM)ใจใฏๅˆ†ใ‘ใฆ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผŽๅ…ธๅž‹็š„ใช็šฎ่†šๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใชใŒใ‚‰ๆ˜Žใ‚‰ใ‹ใช็ญ‹็—‡็Šถใ‚’่ชใ‚ใชใ„ใ‚‚ใฎ่‹ฅๅนด็™บ็—‡่‡จๅบŠ็š„็„ก็ญ‹็—‡ๆ€ง็šฎ่†š็ญ‹็‚Ž(juvenile-onset clinically amyopathic dermatomyositis,JCADM)ใจใ•ใ‚Œ๏ผŒใ“ใ‚ŒใซใฏๆคœๆŸปไธŠ็ญ‹็‚Žใ‚’็คบใ™ๆ‰€่ฆ‹ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใจ่ชใ‚ใชใ„ๅ ดๅˆใŒใ‚ใ‚‹(่‡จๅบŠ็—‡็Šถใฎ้ …ใ‚’ๅ‚็…ง)๏ผŽใพใŸ็‚Ž็—‡ๆ€ง็ญ‹็‚Žใ‚’ๅ‘ˆใ—ใชใŒใ‚‰็šฎ่†š็—‡็Šถใ‚’ๆฌ ใใ‚‚ใฎใฏ่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž(JPM)ใจใ•ใ‚Œใ‚‹ใŒๅฐๅ…ใซใŠใ„ใฆใฏใพใ‚Œใงใ‚ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200417" ; + dcterms:source ; a owl:Class ; - rdfs:label "juvenile dermatomyositis, polymyositis"@en, "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Juvenile dermatomyositis, polymyositis"@en, "ใฒใตใใ‚“ใˆใ‚“๏ผใŸใฏใคใ›ใ„ใใ‚“ใˆใ‚“"@ja-Hira, "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PM/DM"@en ; skos:prefLabel "็šฎ่†š็ญ‹็‚Ž๏ผๅคš็™บๆ€ง็ญ‹็‚Ž"@ja . -:2200418 - :hasNotificationNumber "10" ; - terms:identifier "2200418" ; - terms:source ; - a owl:Class ; - rdfs:label "juvenile dermatomyositis"@en, "็šฎ่†š็ญ‹็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "DM"@en, "JDM"@en ; - skos:closeMatch mondo:MONDO_0005015, mondo:MONDO_0008054, mondo:MONDO_0016367 ; - skos:prefLabel "็šฎ่†š็ญ‹็‚Ž"@ja . - -:2200419 - :hasNotificationNumber "10" ; - terms:identifier "2200419" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200418" ; + dcterms:source ; a owl:Class ; - rdfs:label "juvenile polymyositis"@en, "ๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; + rdfs:label "Juvenile dermatomyositis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใฒใตใใ‚“ใˆใ‚“"@ja-Hira, "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "JPM"@en, "PM"@en ; - skos:closeMatch mondo:MONDO_0008054, mondo:MONDO_0019127, mondo:MONDO_0019168, mondo:MONDO_0019734 ; - skos:prefLabel "ๅคš็™บๆ€ง็ญ‹็‚Ž"@ja . - -:2200420 - :hasNotificationNumber "7" ; - terms:description "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค (Sjรถgrenโ€™s syndrome: ไปฅไธ‹SS)ใฏใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซๅ‚ทๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ๅ…จ่บซๆ€งใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅค–ๅˆ†ๆณŒ่…บ็—‡ (autoimmune exocrinopathy)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บใฎไธญใงใ‚‚ๆถ™่…บใƒปๅ”พๆถฒ่…บใฎ้šœๅฎณใŒไธปใงใ€้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚Œใฐใ€ๆถ™ๆถฒๅˆ†ๆณŒใฎไฝŽไธ‹ใซใ‚ˆใ‚‹็œผใฎไนพ็‡ฅใ€ๅ”พๆถฒๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹ๅฃใฎไนพ็‡ฅใชใฉใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็—‡็Šถใฏใ‹ใชใ‚‰ใšใ—ใ‚‚่‡ช่ฆš็—‡็Šถใจใชใ‚‹ใ‚ใ‘ใงใชใใ€็พžๆ˜Žๆ„Ÿใ€็œผใฎ็•ฐ็‰ฉๆ„Ÿใ€ใ†ๆญฏใฎๅข—ๅŠ ใ€ๅฃๅ†…็‚Žใฎๅคš็™บใชใฉใฎ็—‡็Šถใจใ—ใฆ่กจใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใง็จฎใ€…ใฎ่‡ชๅทฑๆŠ—ไฝ“ใฎ็”ฃ็”ŸใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณๅ€คใŒ้ซ˜ๅ€คใจใชใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใจใ—ใฆใฏๆŠ—ๆ ธๆŠ—ไฝ“(ๆ–‘็ด‹ๅž‹)ใ€ๆŠ—SS-A/RoๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒๅ› ๅญใฎ้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ€‚ๆŠ—SS-B/LaๆŠ—ไฝ“ใฏSSใซ็‰น็•ฐๆ€งใฏ้ซ˜ใ„ใจใ•ใ‚Œใ‚‹ใŒใ€้™ฝๆ€ง็Ž‡ใฏใใ‚Œใปใฉ้ซ˜ใใชใ„ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บ้šœๅฎณไปฅๅค–ใซใ‚‚็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้šœๅฎณใŒๅค–ๅˆ†ๆณŒ่…บใซ้™ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚’่…บๅž‹SSใ€ๅค–ๅˆ†ๆณŒ่…บไปฅๅค–ใฎ่‡“ๅ™จใซ้šœๅฎณใŒใ‚ใ‚‹ไพ‹ใ‚’่…บๅค–ๅž‹SSใจๅ‘ผใถใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉ็จฎใ€…ใฎ่† ๅŽŸ็—…ใจๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€่† ๅŽŸ็—…ใฎๅˆไฝตใฎใชใ„ไพ‹ใ‚’ไธ€ๆฌกๆ€งSSใ€่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไพ‹ใ‚’ไบŒๆฌกๆ€งSSใจๅ‘ผใถใ€‚"@ja ; - terms:identifier "2200420" ; - terms:source ; - a owl:Class ; - rdfs:label "Sjogren's syndrome"@en, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Sjogren็—‡ๅ€™็พค"@ja, "Sjรถgren's Syndrome"@en ; - skos:closeMatch mondo:MONDO_0010030 ; + rdfs:subClassOf ; + skos:altLabel "JDM"@en ; + skos:closeMatch obo:MONDO_0008054 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็šฎ่†š็ญ‹็‚Ž"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200419" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Juvenile polymyositis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใŸใฏใคใ›ใ„ใฒใตใใ‚“ใˆใ‚“"@ja-Hira, "่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "JPM"@en ; + skos:closeMatch obo:MONDO_0019734 ; + skos:prefLabel "่‹ฅๅนดๆ€งๅคš็™บๆ€ง็ญ‹็‚Ž"@ja . + + + nando:hasNotificationNumber "7" ; + dcterms:description "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค (Sjรถgrenโ€™s syndrome: ไปฅไธ‹SS)ใฏใ€ๅ…จ่บซใฎๅค–ๅˆ†ๆณŒ่…บใŒ็ณป็ตฑ็š„ใซๅ‚ทๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€ๅ…จ่บซๆ€งใฎ่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅค–ๅˆ†ๆณŒ่…บ็—‡ (autoimmune exocrinopathy)ใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บใฎไธญใงใ‚‚ๆถ™่…บใƒปๅ”พๆถฒ่…บใฎ้šœๅฎณใŒไธปใงใ€้šœๅฎณใŒ้€ฒ่กŒใ™ใ‚Œใฐใ€ๆถ™ๆถฒๅˆ†ๆณŒใฎไฝŽไธ‹ใซใ‚ˆใ‚‹็œผใฎไนพ็‡ฅใ€ๅ”พๆถฒๅˆ†ๆณŒไฝŽไธ‹ใซใ‚ˆใ‚‹ๅฃใฎไนพ็‡ฅใชใฉใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็—‡็Šถใฏใ‹ใชใ‚‰ใšใ—ใ‚‚่‡ช่ฆš็—‡็Šถใจใชใ‚‹ใ‚ใ‘ใงใชใใ€็พžๆ˜Žๆ„Ÿใ€็œผใฎ็•ฐ็‰ฉๆ„Ÿใ€ใ†ๆญฏใฎๅข—ๅŠ ใ€ๅฃๅ†…็‚Žใฎๅคš็™บใชใฉใฎ็—‡็Šถใจใ—ใฆ่กจใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅคšใใฎๆ‚ฃ่€…ใง็จฎใ€…ใฎ่‡ชๅทฑๆŠ—ไฝ“ใฎ็”ฃ็”ŸใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณๅ€คใŒ้ซ˜ๅ€คใจใชใ‚‹ใ€‚่‡ชๅทฑๆŠ—ไฝ“ใจใ—ใฆใฏๆŠ—ๆ ธๆŠ—ไฝ“(ๆ–‘็ด‹ๅž‹)ใ€ๆŠ—SS-A/RoๆŠ—ไฝ“ใ€ใƒชใ‚ฆใƒžใƒๅ› ๅญใฎ้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ€‚ๆŠ—SS-B/LaๆŠ—ไฝ“ใฏSSใซ็‰น็•ฐๆ€งใฏ้ซ˜ใ„ใจใ•ใ‚Œใ‚‹ใŒใ€้™ฝๆ€ง็Ž‡ใฏใใ‚Œใปใฉ้ซ˜ใใชใ„ใ€‚ใ€€ๅค–ๅˆ†ๆณŒ่…บ้šœๅฎณไปฅๅค–ใซใ‚‚็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๆฅใ™ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚้šœๅฎณใŒๅค–ๅˆ†ๆณŒ่…บใซ้™ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚’่…บๅž‹SSใ€ๅค–ๅˆ†ๆณŒ่…บไปฅๅค–ใฎ่‡“ๅ™จใซ้šœๅฎณใŒใ‚ใ‚‹ไพ‹ใ‚’่…บๅค–ๅž‹SSใจๅ‘ผใถใ“ใจใŒใ‚ใ‚‹ใ€‚ใพใŸๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉ็จฎใ€…ใฎ่† ๅŽŸ็—…ใจๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€่† ๅŽŸ็—…ใฎๅˆไฝตใฎใชใ„ไพ‹ใ‚’ไธ€ๆฌกๆ€งSSใ€่† ๅŽŸ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ไพ‹ใ‚’ไบŒๆฌกๆ€งSSใจๅ‘ผใถใ€‚"@ja ; + dcterms:identifier "NANDO:2200420" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sjogren's syndrome"@en, "ใ—ใ‡ใƒผใใ‚Œใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Sjogren็—‡ๅ€™็พค"@ja, "Sjรถgren's syndrome"@en ; + skos:closeMatch obo:MONDO_0010030 ; skos:prefLabel "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณ็—‡ๅ€™็พค"@ja . -:2200421 - :hasNotificationNumber "6" ; - terms:description "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคใฏใ€ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฎๅญ˜ๅœจไธ‹ใซ่ก€ๆ “ๅ‚พๅ‘ใŒๅข—ใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏๅ‹•้™่„ˆ่ก€ๆ “็—‡ใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฏใƒชใƒณ่„‚่ณชใพใŸใฏใƒชใƒณ่„‚่ณชใจ่›‹็™ฝใฎ่ค‡ๅˆไฝ“ใซ็ตๅˆใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใฎ็ท็งฐใงใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใ‚„็”Ÿ็‰ฉๅญฆ็š„ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€่‡จๅบŠ่จบๆ–ญใซใฏๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณฮฒ2-ใ‚ฐใƒชใ‚ณใƒ—ใƒญใƒ†ใ‚คใƒณโ… ๏ผˆaPLฮฒ2GPI๏ผ‰ๆŠ—ไฝ“ใ‚‚ใ—ใใฏใƒซใƒผใƒ—ใ‚นใ‚ขใƒณใƒใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆ๏ผˆLA๏ผ‰ใฎๅญ˜ๅœจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ใ€€ๅ˜็‹ฌใง็™บ็—‡ใ—ใŸ็—‡ไพ‹ใฏๅŽŸ็™บๆ€งAPSใซใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใซไผดใ†ๅ ดๅˆใฏ็ถš็™บๆ€งAPSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚APSใฎ็‰นๆฎŠๅž‹ใจใ—ใฆใ€ๅคš่‡“ๅ™จใซๅพฎๅฐ่ก€ๆ “ใ‚’ใใŸใ—ๆ€ฅ้€Ÿใซๅคš่‡“ๅ™จไธๅ…จใซ้™ฅใ‚‹ใ€่‡ดๆญป็Ž‡ใŒ้ซ˜ใ„ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค(Catastrophic APS)ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200421" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พคใฏใ€ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฎๅญ˜ๅœจไธ‹ใซ่ก€ๆ “ๅ‚พๅ‘ใŒๅข—ใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅฐๅ…ใงใฏๅ‹•้™่„ˆ่ก€ๆ “็—‡ใŒๅ•้กŒใจใชใ‚‹ใ€‚ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“ใฏใƒชใƒณ่„‚่ณชใพใŸใฏใƒชใƒณ่„‚่ณชใจ่›‹็™ฝใฎ่ค‡ๅˆไฝ“ใซ็ตๅˆใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใฎ็ท็งฐใงใ€ๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณๆŠ—ไฝ“๏ผˆaPL๏ผ‰ใ‚„็”Ÿ็‰ฉๅญฆ็š„ๅฝ้™ฝๆ€งใชใฉใŒๅซใพใ‚Œใ‚‹ใŒใ€่‡จๅบŠ่จบๆ–ญใซใฏๆŠ—ใ‚ซใƒซใ‚ธใ‚ชใƒชใƒ”ใƒณฮฒ2-ใ‚ฐใƒชใ‚ณใƒ—ใƒญใƒ†ใ‚คใƒณโ… ๏ผˆaPLฮฒ2GPI๏ผ‰ๆŠ—ไฝ“ใ‚‚ใ—ใใฏใƒซใƒผใƒ—ใ‚นใ‚ขใƒณใƒใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆ๏ผˆLA๏ผ‰ใฎๅญ˜ๅœจใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚ใ€€ๅ˜็‹ฌใง็™บ็—‡ใ—ใŸ็—‡ไพ‹ใฏๅŽŸ็™บๆ€งAPSใซใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น(SLE)ใชใฉใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใซไผดใ†ๅ ดๅˆใฏ็ถš็™บๆ€งAPSใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚APSใฎ็‰นๆฎŠๅž‹ใจใ—ใฆใ€ๅคš่‡“ๅ™จใซๅพฎๅฐ่ก€ๆ “ใ‚’ใใŸใ—ๆ€ฅ้€Ÿใซๅคš่‡“ๅ™จไธๅ…จใซ้™ฅใ‚‹ใ€่‡ดๆญป็Ž‡ใŒ้ซ˜ใ„ๅŠ‡็—‡ๅž‹ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค(Catastrophic APS)ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200421" ; + dcterms:source ; a owl:Class ; - rdfs:label "anti-phospholipid antibody syndrome"@en, "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Anti-phospholipid antibody syndrome"@en, "ใ“ใ†ใ‚Šใ‚“ใ—ใ—ใคใ“ใ†ใŸใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007140 ; skos:prefLabel "ๆŠ—ใƒชใƒณ่„‚่ณชๆŠ—ไฝ“็—‡ๅ€™็พค"@ja . -:2200422 - :hasNotificationNumber "11" ; - terms:description "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏใ€็šฎ่†š็ฒ˜่†œ็—‡็Šถ๏ผˆๅๅพฉใ™ใ‚‹ๅฃๅ†…็‚Žใ€็šฎ่†š็—‡็Šถใ€ๅค–้™ฐ้ƒจๆฝฐ็˜๏ผ‰ใŠใ‚ˆใณ็œผ็—‡็Šถ๏ผˆใถใฉใ†่†œ็‚Ž๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€็‚Ž็—‡ใฎๅข—ๆ‚ชใจๅฏ›่งฃใ‚’ๅๅพฉใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏๆˆไบบไพ‹ใจๆฏ”่ผƒใ—ใฆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใฎๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„๏ผˆ็ด„50๏ผ…๏ผ‰ไธ€ๆ–นใงใ€็šฎ่†š็—‡็Šถ๏ผˆ็ด„60๏ผ…๏ผ‰ใƒปๅค–้™ฐ้ƒจๆฝฐ็˜๏ผˆ็ด„50๏ผ…๏ผ‰ใƒป็œผ็—‡็Šถ๏ผˆ็ด„20๏ผ…๏ผ‰ใฎๅ‡บ็พ้ ปๅบฆใŒๅฐ‘ใชใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ไธ–็•Œไธญใฎๅฐ‚้–€ๅฎถใฎๆ„่ฆ‹ใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใฎๅฎš็พฉใฏๅญ˜ๅœจใ›ใšใ€ๅ›ฝ้š›ๅŸบๆบ–๏ผˆCriteria of the International Study Group for diagnosis BD๏ผ‰ใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆˆไบบใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใ‚’ๅฏพ่ฑกใซไฝœๆˆใ•ใ‚ŒใŸ่ค‡ๆ•ฐใฎ่จบๆ–ญๅŸบๆบ–ใŒๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใงใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใ€ๅŽš็”ŸๅŠดๅƒ็œ ็‰นๅฎš็–พๆ‚ฃใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200422" ; - terms:source ; - a owl:Class ; - rdfs:label "Behcetโ€™s disease"@en, "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Behcet็—…"@ja ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏใ€็šฎ่†š็ฒ˜่†œ็—‡็Šถ๏ผˆๅๅพฉใ™ใ‚‹ๅฃๅ†…็‚Žใ€็šฎ่†š็—‡็Šถใ€ๅค–้™ฐ้ƒจๆฝฐ็˜๏ผ‰ใŠใ‚ˆใณ็œผ็—‡็Šถ๏ผˆใถใฉใ†่†œ็‚Ž๏ผ‰ใ‚’็‰นๅพดใจใ—ใ€็‚Ž็—‡ใฎๅข—ๆ‚ชใจๅฏ›่งฃใ‚’ๅๅพฉใ™ใ‚‹ๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใฏๆˆไบบไพ‹ใจๆฏ”่ผƒใ—ใฆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใฎๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„๏ผˆ็ด„50๏ผ…๏ผ‰ไธ€ๆ–นใงใ€็šฎ่†š็—‡็Šถ๏ผˆ็ด„60๏ผ…๏ผ‰ใƒปๅค–้™ฐ้ƒจๆฝฐ็˜๏ผˆ็ด„50๏ผ…๏ผ‰ใƒป็œผ็—‡็Šถ๏ผˆ็ด„20๏ผ…๏ผ‰ใฎๅ‡บ็พ้ ปๅบฆใŒๅฐ‘ใชใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚‹ใ€‚ไธ–็•Œไธญใฎๅฐ‚้–€ๅฎถใฎๆ„่ฆ‹ใŒไธ€่‡ดใ—ใŸ็–พๆ‚ฃใฎๅฎš็พฉใฏๅญ˜ๅœจใ›ใšใ€ๅ›ฝ้š›ๅŸบๆบ–๏ผˆCriteria of the International Study Group for diagnosis BD๏ผ‰ใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆˆไบบใฎใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใ‚’ๅฏพ่ฑกใซไฝœๆˆใ•ใ‚ŒใŸ่ค‡ๆ•ฐใฎ่จบๆ–ญๅŸบๆบ–ใŒๅฐๅ…ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ใงใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏใ€ๅŽš็”ŸๅŠดๅƒ็œ ็‰นๅฎš็–พๆ‚ฃใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—… ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200422" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Behcet's disease"@en, "ในใƒผใกใ‡ใฃใจใณใ‚‡ใ†"@ja-Hira, "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Behรงet disease"@en, "Behรงet็—…"@ja ; + skos:closeMatch obo:MONDO_0007191 ; skos:prefLabel "ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…"@ja . -:2200423 - :hasNotificationNumber "4" ; - terms:description "ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžๅŠใณ่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‹ญ็ช„ใ€้–‰ๅกžๅˆใฏๆ‹กๅผต็—…ๅค‰ใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ๅ…จ่บซ็—‡็Šถใ€็‹ญ็ช„ใชใ„ใ—้–‰ๅกžใ‚’ใใŸใ—ใŸๅ‹•่„ˆใฎ่ก€ๆต้šœๅฎณใซใ‚ˆใ‚‹ๅ„็จฎ่‡“ๅ™จ้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏๆ‹กๅผตใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใชใฉใŒ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ้ƒจไฝใ‚„ๅบƒใŒใ‚Šใซใ‚ˆใฃใฆ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ใ€่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌง็ฑณใงใฏ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไธŠ่‚ข่ก€็ฎกใฎ่„ˆๆ‹ๆฌ ๆใ‚’ไผดใ†ใ“ใจใ‹ใ‚‰ใ€่„ˆใชใ—็—…ใจๅ‘ผใฐใ‚ŒใŸใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใซใฏไบบ็จฎๅทฎใ‚„ๅœฐๅŸŸๅทฎใŒใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็œใฎ็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญใฎๅฏพ่ฑก็–พๆ‚ฃใฎไธ€ใคใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200423" ; - terms:source ; - a owl:Class ; - rdfs:label "Takayasu arteritis"@en, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0017991 ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ๅคงๅ‹•่„ˆใจใใฎไธป่ฆๅˆ†ๆžๅŠใณ่‚บๅ‹•่„ˆใ€ๅ† ๅ‹•่„ˆใซ็‹ญ็ช„ใ€้–‰ๅกžๅˆใฏๆ‹กๅผต็—…ๅค‰ใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้ž็‰น็•ฐๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ก€็ฎก็‚Žใซใ‚ˆใ‚‹ๅ…จ่บซ็—‡็Šถใ€็‹ญ็ช„ใชใ„ใ—้–‰ๅกžใ‚’ใใŸใ—ใŸๅ‹•่„ˆใฎ่ก€ๆต้šœๅฎณใซใ‚ˆใ‚‹ๅ„็จฎ่‡“ๅ™จ้šœๅฎณใ€ใ‚ใ‚‹ใ„ใฏๆ‹กๅผตใซใ‚ˆใ‚‹ๅ‹•่„ˆ็˜คใชใฉใŒ่‡จๅบŠ็—…ๆ…‹ใฎไธญๅฟƒใ‚’ใชใ™ใ€‚็—…ๅค‰ใฎ้ƒจไฝใ‚„ๅบƒใŒใ‚Šใซใ‚ˆใฃใฆ็—‡็ŠถใŒ็•ฐใชใ‚‹ใŸใ‚ใ€่‡จๅบŠ็—‡็ŠถใŒๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๆœฌ้‚ฆใงใฏๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๆฌง็ฑณใงใฏ้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Žใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไธŠ่‚ข่ก€็ฎกใฎ่„ˆๆ‹ๆฌ ๆใ‚’ไผดใ†ใ“ใจใ‹ใ‚‰ใ€่„ˆใชใ—็—…ใจๅ‘ผใฐใ‚ŒใŸใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใซใฏไบบ็จฎๅทฎใ‚„ๅœฐๅŸŸๅทฎใŒใ‚ใ‚‹ใŒใ€ๆœฌ้‚ฆใงใฏ่‹ฅใ„ๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅŽš็”ŸๅŠดๅƒ็œใฎ็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญใฎๅฏพ่ฑก็–พๆ‚ฃใฎไธ€ใคใซๆŒ‡ๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200423" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Takayasu arteritis"@en, "ใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Aortitis syndrome"@en, "Takayasu's arteritis"@en, "ๅคงๅ‹•่„ˆ็‚Ž็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0006656, obo:MONDO_0017991 ; skos:prefLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja . -:2200424 - :hasNotificationNumber "5" ; - terms:description "Wegener่‚‰่Šฝ่…ซ็—‡ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซๅ…จ่บซใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€งๅค‰ๅŒ–ใ‚’่ชใ‚ใ€็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCAใŒ้–ขไธŽใ™ใ‚‹ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚International Chapel Hill Consensus Conferenceใฎ2012ๅนดๆ”น่จ‚ใงใ€ๅพ“ๆฅใฎWegener่‚‰่Šฝ่…ซ็—‡ใจใ„ใ†ๅ‘ผใณๅใ‹ใ‚‰granulomatosis with polyangitis GPAใซๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚ANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใฎไธ€็–พๆ‚ฃใซๅŒบๅˆ†ใ•ใ‚Œใ€ไธŠไธ‹ๆฐ—้“ใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ใŠใ‚ˆใณๅฐใ‹ใ‚‰ไธญ่ก€็ฎกใ‚’ไธปใซไพตใ™ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’ๆฅใŸใ—ใ€้ซ˜้ ปๅบฆใซๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ‚‚ใฎใจๅ†ๅฎš็พฉใ•ใ‚ŒใŸใ€‚GPAใฏๅ…ƒๆฅใ€็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ใ—ใ‹ใ—ๅฃฐ้–€ไธ‹็‹ญ็ช„ใซไผดใ†ๅ‘ผๅธไธๅ…จใชใฉๆ•‘ๆ€ฅ็–พๆ‚ฃใจใ—ใฆใฎๆ€งๆ ผใ‚„ใ€่‡“ๅ™จๅพŒ้บ็—‡ใจใ—ใฆใฎ่…Žไธๅ…จใฎๅญ˜ๅœจใฏใ€ๅ˜ใชใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจใ—ใฆใฎใฟใงๆ‰ใˆใ‚‹ในใใงใฏใชใ„ใ“ใจใ‚’ๆ„ๅ‘ณใ—ใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ไธปไฝ“ใจใ—ใŸๅ…จ่บซๆ€ง็–พๆ‚ฃใจใ—ใฆใฎ็ฎก็†ใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200424" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "Wegener่‚‰่Šฝ่…ซ็—‡ใฏใ€็—…็†็ต„็น”ๅญฆ็š„ใซๅ…จ่บซใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€งๅค‰ๅŒ–ใ‚’่ชใ‚ใ€็™บ็—‡ๆฉŸๅบใซๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCAใŒ้–ขไธŽใ™ใ‚‹ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Ž็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚International Chapel Hill Consensus Conferenceใฎ2012ๅนดๆ”น่จ‚ใงใ€ๅพ“ๆฅใฎWegener่‚‰่Šฝ่…ซ็—‡ใจใ„ใ†ๅ‘ผใณๅใ‹ใ‚‰granulomatosis with polyangitis GPAใซๅค‰ๆ›ดใ•ใ‚ŒใŸใ€‚ANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใฎไธ€็–พๆ‚ฃใซๅŒบๅˆ†ใ•ใ‚Œใ€ไธŠไธ‹ๆฐ—้“ใฎๅฃŠๆญปๆ€งใƒป่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ใŠใ‚ˆใณๅฐใ‹ใ‚‰ไธญ่ก€็ฎกใ‚’ไธปใซไพตใ™ๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’ๆฅใŸใ—ใ€้ซ˜้ ปๅบฆใซๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ‚‚ใฎใจๅ†ๅฎš็พฉใ•ใ‚ŒใŸใ€‚GPAใฏๅ…ƒๆฅใ€็”Ÿๅ‘ฝไบˆๅพŒใฎๆฅตใ‚ใฆๆ‚ชใ„็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€็™บ็—‡ๆ—ฉๆœŸใซๅ…็–ซๆŠ‘ๅˆถ็™‚ๆณ•ใ‚’้–‹ๅง‹ใ™ใ‚‹ใจใ€้ซ˜็Ž‡ใซๅฏ›่งฃใ‚’ๅฐŽๅ…ฅใงใใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใŸใ€‚ใ—ใ‹ใ—ๅฃฐ้–€ไธ‹็‹ญ็ช„ใซไผดใ†ๅ‘ผๅธไธๅ…จใชใฉๆ•‘ๆ€ฅ็–พๆ‚ฃใจใ—ใฆใฎๆ€งๆ ผใ‚„ใ€่‡“ๅ™จๅพŒ้บ็—‡ใจใ—ใฆใฎ่…Žไธๅ…จใฎๅญ˜ๅœจใฏใ€ๅ˜ใชใ‚‹ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจใ—ใฆใฎใฟใงๆ‰ใˆใ‚‹ในใใงใฏใชใ„ใ“ใจใ‚’ๆ„ๅ‘ณใ—ใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ไธปไฝ“ใจใ—ใŸๅ…จ่บซๆ€ง็–พๆ‚ฃใจใ—ใฆใฎ็ฎก็†ใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200424" ; + dcterms:source ; a owl:Class ; - rdfs:label "granulomatosis with polyangiitis"@en, "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Granulomatosis with polyangiitis"@en, "ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "GPA"@en ; - skos:closeMatch mondo:MONDO_0012105 ; + skos:closeMatch obo:MONDO_0012105 ; skos:prefLabel "ๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . -:2200425 - :hasNotificationNumber "1" ; - terms:description "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Žใฏไธญๅž‹่ก€็ฎก็‚Žใซๅˆ†้กžใ•ใ‚Œใ€ไธญใƒปๅฐๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹ใŒใ€็ดฐๅ‹•่„ˆใ‚„ๆฏ›็ดฐ่ก€็ฎกใซใฏ่ก€็ฎก็‚Žใ‚’่ชใ‚ใชใ„ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็ดฐๅ‹•่„ˆไปฅไธ‹ใฎๅฐๅž‹่ก€็ฎกใŒไธปใช็ฝนๆ‚ฃ่ก€็ฎกใงใ‚ใ‚‹้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใจใฏใ€็—…ๆ…‹ใƒป็—‡็Šถใƒป็—…็†็ต„็น”ๆ‰€่ฆ‹ใƒปๆคœๆŸปๆ‰€่ฆ‹ใƒปไบˆๅพŒใชใฉใŒๆ˜Ž็ขบใซ็•ฐใชใ‚‹ใ€‚ANCAใŒ้™ฝๆ€งใซใชใ‚‹ใ“ใจใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200425" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Žใฏไธญๅž‹่ก€็ฎก็‚Žใซๅˆ†้กžใ•ใ‚Œใ€ไธญใƒปๅฐๅž‹ใฎ็ญ‹ๆ€งๅ‹•่„ˆใซๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใ‚’่ชใ‚ใ‚‹ใŒใ€็ดฐๅ‹•่„ˆใ‚„ๆฏ›็ดฐ่ก€็ฎกใซใฏ่ก€็ฎก็‚Žใ‚’่ชใ‚ใชใ„ๅŽŸ็™บๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็ดฐๅ‹•่„ˆไปฅไธ‹ใฎๅฐๅž‹่ก€็ฎกใŒไธปใช็ฝนๆ‚ฃ่ก€็ฎกใงใ‚ใ‚‹้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Žใจใฏใ€็—…ๆ…‹ใƒป็—‡็Šถใƒป็—…็†็ต„็น”ๆ‰€่ฆ‹ใƒปๆคœๆŸปๆ‰€่ฆ‹ใƒปไบˆๅพŒใชใฉใŒๆ˜Ž็ขบใซ็•ฐใชใ‚‹ใ€‚ANCAใŒ้™ฝๆ€งใซใชใ‚‹ใ“ใจใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200425" ; + dcterms:source ; a owl:Class ; - rdfs:label "polyangiitis nodosa"@en, "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Polyangiitis nodosa"@en, "ใ‘ใฃใ›ใคใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“"@ja-Hira, "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "PN"@en, "็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Ž"@ja ; - skos:closeMatch mondo:MONDO_0011405 ; + skos:closeMatch obo:MONDO_0019170 ; skos:prefLabel "็ต็ฏ€ๆ€งๅคš็™บ่ก€็ฎก็‚Ž"@ja . -:2200426 - :hasNotificationNumber "2" ; - terms:description "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚ŽMPAใฏใ€1994ๅนดใฎInternational Chapel Hill Consensus Conferenceใงใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽPANใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅ‹•้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใจใ—ใฆๆ–ฐใŸใซๅˆ†้กžใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใ‚’ใปใจใ‚“ใฉ่ชใ‚ใšใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCA้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ€ๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็—…ๆ…‹ใ‚„่‡จๅบŠ็—…ๅž‹ใซ็€็›ฎใ—ใŸ2012ๅนดๆ”น่จ‚ๅˆ†้กžใงใฏใ€Wegener่‚‰่Šฝ่…ซ็—‡๏ผๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡GPAใŠใ‚ˆใณChurg-Strauss็—‡ๅ€™็พค๏ผๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡EGPAใจใจใ‚‚ใซANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใซๅŒบๅˆ†ใ•ใ‚ŒใŸANCA้–ข้€ฃ่ก€็ฎก็‚Žใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ANCAใฎๅฏพๅฟœๆŠ—ๅŽŸใฏGPAใจ็•ฐใชใ‚ŠใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผMPOใŒๅคšใใ€็‰นใซๆœฌ้‚ฆใฎMPAไพ‹ใฎMPO-ANCAใฎ้™ฝๆ€ง็Ž‡ใฏ9ๅ‰ฒใ‚’่ถ…ใˆใ‚‹ใ€‚MPA ใฏ่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„็‚นใงGPAใ€EGPAใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200426" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚ŽMPAใฏใ€1994ๅนดใฎInternational Chapel Hill Consensus Conferenceใงใ€็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚ŽPANใจ่จบๆ–ญใ•ใ‚Œใฆใ„ใŸ็—‡ไพ‹ใฎใ†ใกใ€ๅฐ่ก€็ฎก๏ผˆๆฏ›็ดฐ่ก€็ฎกใ€็ดฐๅ‹•้™่„ˆ๏ผ‰ใ‚’ไธปไฝ“ใจใ—ใŸๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใจใ—ใฆๆ–ฐใŸใซๅˆ†้กžใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅฃใธใฎๅ…็–ซ่ค‡ๅˆไฝ“ๆฒˆ็€ใ‚’ใปใจใ‚“ใฉ่ชใ‚ใšใ€ๆŠ—ๅฅฝไธญ็ƒ็ดฐ่ƒž่ณชๆŠ—ไฝ“ANCA้™ฝๆ€ง็Ž‡ใŒ้ซ˜ใ„ใ“ใจใ€ๅฃŠๆญปๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ‚’ไผดใ†ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็—…ๆ…‹ใ‚„่‡จๅบŠ็—…ๅž‹ใซ็€็›ฎใ—ใŸ2012ๅนดๆ”น่จ‚ๅˆ†้กžใงใฏใ€Wegener่‚‰่Šฝ่…ซ็—‡๏ผๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡GPAใŠใ‚ˆใณChurg-Strauss็—‡ๅ€™็พค๏ผๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡EGPAใจใจใ‚‚ใซANCAใฎ้–ขไธŽใ™ใ‚‹small vessel vasculitisใซๅŒบๅˆ†ใ•ใ‚ŒใŸANCA้–ข้€ฃ่ก€็ฎก็‚Žใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ANCAใฎๅฏพๅฟœๆŠ—ๅŽŸใฏGPAใจ็•ฐใชใ‚ŠใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผMPOใŒๅคšใใ€็‰นใซๆœฌ้‚ฆใฎMPAไพ‹ใฎMPO-ANCAใฎ้™ฝๆ€ง็Ž‡ใฏ9ๅ‰ฒใ‚’่ถ…ใˆใ‚‹ใ€‚MPA ใฏ่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใฎใฟใ‚‰ใ‚Œใชใ„็‚นใงGPAใ€EGPAใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200426" ; + dcterms:source ; a owl:Class ; - rdfs:label "microscopic polyangiitis"@en, "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Microscopic polyangiitis"@en, "ใ‘ใ‚“ใณใใ‚‡ใ†ใฆใใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“"@ja-Hira, "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "MPA"@en ; - skos:closeMatch mondo:MONDO_0019124 ; + skos:closeMatch obo:MONDO_0019124 ; skos:prefLabel "้ก•ๅพฎ้ก็š„ๅคš็™บ่ก€็ฎก็‚Ž"@ja . -:2200427 - :hasNotificationNumber "3" ; - terms:description "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒๅ…ˆ่กŒใ—ใ€ใใฎๅพŒๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ็™บ็—‡ใ™ใ‚‹ไธญๅฐๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅ‘จๅ›ฒใธใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚„ใ€ๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’ไผดใ†่ก€็ฎกๅค–่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใŒๅ…จ่บซใฎ็ตๅˆ็ต„็น”้–“่ณชใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไปฅๅ‰ใฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žallergic granulomatous angiitis (AGA)ใ€ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พคChurg-Strauss syndrome (CSS)ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚"@ja ; - terms:identifier "2200427" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "ๆฐ—็ฎกๆ”ฏๅ–˜ๆฏใ‚„ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง้ผป็‚ŽใŒๅ…ˆ่กŒใ—ใ€ใใฎๅพŒๆœซๆขข่ก€ๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ไผดใฃใฆ็™บ็—‡ใ™ใ‚‹ไธญๅฐๅž‹่ก€็ฎกใฎๅฃŠๆญปๆ€ง่ก€็ฎก็‚Žใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซใฏ่ก€็ฎกๅ‘จๅ›ฒใธใฎๅฅฝ้…ธ็ƒๆตธๆฝคใ‚„ใ€ๅฅฝ้…ธ็ƒๆตธๆฝคใ‚’ไผดใ†่ก€็ฎกๅค–่‚‰่Šฝ่…ซๆ€ง็—…ๅค‰ใŒๅ…จ่บซใฎ็ตๅˆ็ต„็น”้–“่ณชใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไปฅๅ‰ใฏใ€ใ‚ขใƒฌใƒซใ‚ฎใƒผๆ€ง่‚‰่Šฝ่…ซๆ€ง่ก€็ฎก็‚Žallergic granulomatous angiitis (AGA)ใ€ใ‚ใ‚‹ใ„ใฏใƒใƒฃใƒผใ‚ฐใƒปใ‚นใƒˆใƒฉใ‚ฆใ‚น็—‡ๅ€™็พคChurg-Strauss syndrome (CSS)ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200427" ; + dcterms:source ; a owl:Class ; - rdfs:label "eosinophilic granulomatosis with polyangiitis"@en, "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Eosinophilic granulomatosis with polyangiitis"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใŸใฏใคใ‘ใฃใ‹ใ‚“ใˆใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "EGPA"@en ; - skos:closeMatch mondo:MONDO_0015943 ; + skos:closeMatch obo:MONDO_0015943 ; skos:prefLabel "ๅฅฝ้…ธ็ƒๆ€งๅคš็™บ่ก€็ฎก็‚Žๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . -:2200428 - :hasNotificationNumber "12" ; - terms:description "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆRelapsing Polychondritis: RP๏ผ‰ใฏใ€่€ณไป‹ใ€้ผปใ€ๅ–‰้ ญๆฐ—็ฎก่ปŸ้ชจใชใฉใซ็”Ÿใ˜ใ‚‹ๅ†็™บๆ€งใ‹ใค้€ฒ่กŒๆ€งใฎ่ปŸ้ชจ็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถไปฅๅค–ใซใ€้–ข็ฏ€็‚Žใ€็œผ็—…ๅค‰ใ€ๅฟƒ่ก€็ฎก็—…ๅค‰ใชใฉใ‚’ๅ‘ˆใ—ใ€ไป–ใฎใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใชใ‹ใงใ‚‚ใ€ๅ–‰้ ญๆฐ—็ฎก็—…ๅค‰ใฏไธปใชๆญปๅ› ใจใชใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใจๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฎ†ใฉใฎๆ‚ฃ่€…ใฏไธญๅนดๆœŸไปฅ้™ใฎๆˆไบบใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ใฎๅ ฑๅ‘Šใ‚‚็จ€ใซใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200428" ; - terms:source ; - a owl:Class ; - rdfs:label "Relapsing Polychondritis"@en, "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019125 ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž๏ผˆRelapsing Polychondritis: RP๏ผ‰ใฏใ€่€ณไป‹ใ€้ผปใ€ๅ–‰้ ญๆฐ—็ฎก่ปŸ้ชจใชใฉใซ็”Ÿใ˜ใ‚‹ๅ†็™บๆ€งใ‹ใค้€ฒ่กŒๆ€งใฎ่ปŸ้ชจ็‚Žใ‚’็‰นๅพดใจใ™ใ‚‹็จ€ใช่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถไปฅๅค–ใซใ€้–ข็ฏ€็‚Žใ€็œผ็—…ๅค‰ใ€ๅฟƒ่ก€็ฎก็—…ๅค‰ใชใฉใ‚’ๅ‘ˆใ—ใ€ไป–ใฎใƒชใ‚ฆใƒžใƒๆ€ง็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใ‚‚ๅคšใ„ใ€‚ใชใ‹ใงใ‚‚ใ€ๅ–‰้ ญๆฐ—็ฎก็—…ๅค‰ใฏไธปใชๆญปๅ› ใจใชใ‚‹ใŸใ‚ใ€ๆ—ฉๆœŸใฎ่จบๆ–ญใจๆฒป็™‚ไป‹ๅ…ฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ๆฎ†ใฉใฎๆ‚ฃ่€…ใฏไธญๅนดๆœŸไปฅ้™ใฎๆˆไบบใงใ‚ใ‚‹ใŒใ€ๅฐๅ…ใฎๅ ฑๅ‘Šใ‚‚็จ€ใซใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200428" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Relapsing polychondritis"@en, "ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใชใ‚“ใ“ใคใˆใ‚“"@ja-Hira, "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "RP"@en ; + skos:closeMatch obo:MONDO_0019125 ; skos:prefLabel "ๅ†็™บๆ€งๅคš็™บ่ปŸ้ชจ็‚Ž"@ja . -:2200429 - :hasNotificationNumber "23" ; - terms:description "ๅผท็šฎ็—‡ใฏ็šฎ่†š็กฌๅŒ–ใ‚’ใฏใ˜ใ‚ใจใ—ใŸๅ…จ่บซ่‡“ๅ™จใฎ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ (SSc)ใฏใ€็šฎ่†š็—‡็Šถใฎไป–ใซ่‚บ็ทš็ถญ็—‡ใƒป่‚บ้ซ˜่ก€ๅœง็—‡ใ‚„่…Ž้šœๅฎณใ€ๆถˆๅŒ–ๅ™จ้šœๅฎณใชใฉๅ…จ่บซ่‡“ๅ™จใฎๅˆไฝต็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆ็•ฐใชใ‚Šๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ2ใคใซๅˆ†ใ‘ใ‚‹LeRoyใ‚‰ใฎๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใฏ่‡จๅบŠ็—‡็Šถใ‹ใ‚‰็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใ‚ˆใ‚Šไฝ“ๅนนๅดใซ้€ฒๅฑ•ใ™ใ‚‹โ€œdiffuse cutaneous SSc (d-SSc)โ€ใ€็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใพใงใฎๆœซๆขขๅดใซ้™ๅฑ€ใ™ใ‚‹โ€limited cutaneous SSc (l-SSc)โ€œใฎ๏ผ’็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200429" ; - terms:source ; - a owl:Class ; - rdfs:label "systemic sclerosis"@en, "ๅผท็šฎ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005100 ; - skos:prefLabel "ๅผท็šฎ็—‡"@ja . - -:2200430 - :hasNotificationNumber "24" ; - terms:description "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…(mixed connective tissue disease๏ผšMCTD)ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰๏ผŒๅคš็™บ็ญ‹็‚Ž๏ผˆPM๏ผ‰๏ผŒๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSSc๏ผ‰ๆง˜ๆ‰€่ฆ‹ใฎๆททๅœจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใงใฏใ€SLEใƒปPMใƒปSScใใ‚Œใžใ‚Œใฎ่‡จๅบŠๆ‰€่ฆ‹ใŒๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใซๆŠ—U1-RNP (ribonucleoprotein)ๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใฎๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…ใงใฏSLEใƒปPMใƒปSScใฎ๏ผ“ใคๆ‰€่ฆ‹ใ‚’ๅ…จใฆ่ชใ‚ใ‚‹ใ“ใจใฏๅฐ‘ใชใใ€SLEๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒ้ซ˜ใใ€PMใƒปSScๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒๅฐ‘ใชใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200430" ; - terms:source ; - a owl:Class ; - rdfs:label "mixed connective tissue disease"@en, "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "MCTD"@en ; - skos:closeMatch mondo:MONDO_0005854 ; - skos:prefLabel "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…"@ja . + + nando:hasNotificationNumber "23" ; + dcterms:description "ๅผท็šฎ็—‡ใฏ็šฎ่†š็กฌๅŒ–ใ‚’ใฏใ˜ใ‚ใจใ—ใŸๅ…จ่บซ่‡“ๅ™จใฎ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๆ…ขๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ (SSc)ใฏใ€็šฎ่†š็—‡็Šถใฎไป–ใซ่‚บ็ทš็ถญ็—‡ใƒป่‚บ้ซ˜่ก€ๅœง็—‡ใ‚„่…Ž้šœๅฎณใ€ๆถˆๅŒ–ๅ™จ้šœๅฎณใชใฉๅ…จ่บซ่‡“ๅ™จใฎๅˆไฝต็—‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฏใ€็กฌๅŒ–ใฎ็จ‹ๅบฆใ€้€ฒ่กŒใชใฉใซใคใ„ใฆใฏๆ‚ฃ่€…ใซใ‚ˆใฃใฆ็•ฐใชใ‚Šๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚ๅ…จ่บซๆ€งๅผท็šฎ็—‡ใ‚’ๅคงใใ2ใคใซๅˆ†ใ‘ใ‚‹LeRoyใ‚‰ใฎๅˆ†้กžใŒๅ›ฝ้š›็š„ใซๅบƒใ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใฏ่‡จๅบŠ็—‡็Šถใ‹ใ‚‰็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใ‚ˆใ‚Šไฝ“ๅนนๅดใซ้€ฒๅฑ•ใ™ใ‚‹โ€œdiffuse cutaneous SSc (d-SSc)โ€ใ€็šฎ่†š็กฌๅŒ–ใŒ่‚˜้–ข็ฏ€ใพใงใฎๆœซๆขขๅดใซ้™ๅฑ€ใ™ใ‚‹โ€limited cutaneous SSc (l-SSc)โ€œใฎ๏ผ’็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200429" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Systemic sclerosis"@en, "ใœใ‚“ใ—ใ‚“ใ›ใ„ใใ‚‡ใ†ใฒใ—ใ‚‡ใ†"@ja-Hira, "ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SSc"@en ; + skos:closeMatch obo:MONDO_0005100 ; + skos:prefLabel "ๅ…จ่บซๆ€งๅผท็šฎ็—‡"@ja . -:2200431 - :hasNotificationNumber "14" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever: FMF๏ผ‰ใฏใ€ๆผฟ่†œ็‚Žใชใฉใ‚’ๅๅพฉใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ๏ผˆautoinflammatory diseases๏ผ‰ใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใจ้žๅ…ธๅž‹ไพ‹๏ผˆไธๅฎŒๅ…จๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏใ€ๆœˆใซ๏ผ‘ๅ›žใปใฉใฎ็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚็™บ็†ฑๆœŸ้–“ใฏ72ๆ™‚้–“ไปฅๅ†…ใงใ€็™บ็†ฑใซไผดใฃใฆๆฟ€ใ—ใ„่…น็—›ใ‹่ƒธ่ƒŒ้ƒจ็—›ใ‚’่จดใˆใ€้–ข็ฏ€็‚Žใฎไฝต็™บใฏไธ‹่‚ขใฎๅคง้–ข็ฏ€ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚้žๅ…ธๅž‹ไพ‹ใฏ็™บ็†ฑๆœŸ้–“ใŒๆ•ฐ้€ฑ้–“ใจ้•ทใใ€ใ•ใพใ–ใพใช้šไผด็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้–ข็ฏ€็‚Žใฎๅˆไฝตใฏ่‚˜้–ข็ฏ€ใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็†ฑๆ™‚ใซใฏใ€CRPใฏ10 mg/mlไปฅไธŠใจ้ซ˜ๅ€คใซใชใ‚‹ใ“ใจใŒๅคšใใ€็™บไฝœ้–“ๆฌ ๆœŸใซใฏๆญฃๅธธๅŒ–ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€็‚Ž็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹ๅˆ†ๅญ็พคใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฎไธญใงไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€่ฒฌไปป้บไผๅญMEFV (่›‹็™ฝใฏpyrin) ใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MEFV exon 10ๅค‰็•ฐ(M694Iใชใฉ)ใฏๅ…ธๅž‹ไพ‹ใซๅคšใใ€้žๅ…ธๅž‹ไพ‹ใงใฏexon 3ใฎP369S-R408Qๅค‰็•ฐใŒๆคœๅ‡บใ•ใ‚Œใ‚„ใ™ใ„ใ€‚ๆฒป็™‚ใฏใ„ใšใ‚Œใฎๅž‹ใ‚‚ๅฅฝไธญ็ƒๆฉŸ่ƒฝใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ‚ณใƒซใƒ’ใƒใƒณใŒๅคงๅคšๆ•ฐไพ‹ใงๅฅๅŠนใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200431" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…(mixed connective tissue disease๏ผšMCTD)ใฏใ€ๅ…จ่บซๆ€งใ‚จใƒชใƒ†ใƒžใƒˆใƒผใƒ‡ใ‚น๏ผˆSLE๏ผ‰๏ผŒๅคš็™บ็ญ‹็‚Ž๏ผˆPM๏ผ‰๏ผŒๅ…จ่บซๆ€งๅผท็šฎ็—‡๏ผˆSSc๏ผ‰ๆง˜ๆ‰€่ฆ‹ใฎๆททๅœจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใงใฏใ€SLEใƒปPMใƒปSScใใ‚Œใžใ‚Œใฎ่‡จๅบŠๆ‰€่ฆ‹ใŒๅŒไธ€ๆ‚ฃ่€…ใซๅŒๆ™‚ใซใ‚ใ‚‹ใ„ใฏ็ตŒ้Žใจใจใ‚‚ใซ่ชใ‚ใ‚‰ใ‚Œใ€่ก€ไธญใซๆŠ—U1-RNP (ribonucleoprotein)ๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใฎๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…ใงใฏSLEใƒปPMใƒปSScใฎ๏ผ“ใคๆ‰€่ฆ‹ใ‚’ๅ…จใฆ่ชใ‚ใ‚‹ใ“ใจใฏๅฐ‘ใชใใ€SLEๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒ้ซ˜ใใ€PMใƒปSScๆง˜ๆ‰€่ฆ‹ใฎๆฏ”้‡ใŒๅฐ‘ใชใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200430" ; + dcterms:source ; a owl:Class ; - rdfs:label "familiar Mediterranean fever"@en, "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Mixed connective tissue disease"@en, "ใ“ใ‚“ใ”ใ†ใ›ใ„ใ‘ใคใ”ใ†ใใ—ใใณใ‚‡ใ†"@ja-Hira, "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MCTD"@en ; + skos:closeMatch obo:MONDO_0005854 ; + skos:prefLabel "ๆททๅˆๆ€ง็ตๅˆ็ต„็น”็—…"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFamilial Mediterranean fever: FMF๏ผ‰ใฏใ€ๆผฟ่†œ็‚Žใชใฉใ‚’ๅๅพฉใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃ๏ผˆautoinflammatory diseases๏ผ‰ใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใจ้žๅ…ธๅž‹ไพ‹๏ผˆไธๅฎŒๅ…จๅž‹๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใงใฏใ€ๆœˆใซ๏ผ‘ๅ›žใปใฉใฎ็™บ็†ฑใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚็™บ็†ฑๆœŸ้–“ใฏ72ๆ™‚้–“ไปฅๅ†…ใงใ€็™บ็†ฑใซไผดใฃใฆๆฟ€ใ—ใ„่…น็—›ใ‹่ƒธ่ƒŒ้ƒจ็—›ใ‚’่จดใˆใ€้–ข็ฏ€็‚Žใฎไฝต็™บใฏไธ‹่‚ขใฎๅคง้–ข็ฏ€ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚้žๅ…ธๅž‹ไพ‹ใฏ็™บ็†ฑๆœŸ้–“ใŒๆ•ฐ้€ฑ้–“ใจ้•ทใใ€ใ•ใพใ–ใพใช้šไผด็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้–ข็ฏ€็‚Žใฎๅˆไฝตใฏ่‚˜้–ข็ฏ€ใชใฉใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็†ฑๆ™‚ใซใฏใ€CRPใฏ10 mg/mlไปฅไธŠใจ้ซ˜ๅ€คใซใชใ‚‹ใ“ใจใŒๅคšใใ€็™บไฝœ้–“ๆฌ ๆœŸใซใฏๆญฃๅธธๅŒ–ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ€็‚Ž็—‡ใ‚’ๅˆถๅพกใ™ใ‚‹ๅˆ†ๅญ็พคใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใฎไธญใงไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€่ฒฌไปป้บไผๅญMEFV (่›‹็™ฝใฏpyrin) ใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MEFV exon 10ๅค‰็•ฐ(M694Iใชใฉ)ใฏๅ…ธๅž‹ไพ‹ใซๅคšใใ€้žๅ…ธๅž‹ไพ‹ใงใฏexon 3ใฎP369S-R408Qๅค‰็•ฐใŒๆคœๅ‡บใ•ใ‚Œใ‚„ใ™ใ„ใ€‚ๆฒป็™‚ใฏใ„ใšใ‚Œใฎๅž‹ใ‚‚ๅฅฝไธญ็ƒๆฉŸ่ƒฝใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ใ‚ณใƒซใƒ’ใƒใƒณใŒๅคงๅคšๆ•ฐไพ‹ใงๅฅๅŠนใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200431" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial Mediterranean fever"@en, "ใ‹ใžใใ›ใ„ใกใกใ‚…ใ†ใ‹ใ„ใญใค"@ja-Hira, "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FMF"@en ; + skos:closeMatch obo:MONDO_0018088 ; skos:prefLabel "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ"@ja . -:2200432 - :hasNotificationNumber "16" ; - terms:description "NLRP3้บไผๅญ(่›‹็™ฝๅ๏ผšcryopyrin๏ผŒใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณIL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚Šใ€ๅ‘จๆœŸๆ€งๆˆ–ใ„ใฏๆŒ็ถšๆ€งใซๅ…จ่บซใฎ็‚Ž็—‡ใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200432" ; - terms:source ; - a owl:Class ; - rdfs:label "cryopyrin-associated periodic syndrome"@en, "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016168 ; + + nando:hasNotificationNumber "16" ; + dcterms:description "NLRP3้บไผๅญ(่›‹็™ฝๅ๏ผšcryopyrin๏ผŒใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ)ใฎ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณIL-1ฮฒใฎ้Žๅ‰ฐ็”ฃ็”Ÿใซใ‚ˆใ‚Šใ€ๅ‘จๆœŸๆ€งๆˆ–ใ„ใฏๆŒ็ถšๆ€งใซๅ…จ่บซใฎ็‚Ž็—‡ใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200432" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cryopyrin-associated periodic syndrome"@en, "ใใ‚ŠใŠใดใ‚Šใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใญใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Cryopyrin associated periodic fever syndrome"@en, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0016168 ; skos:prefLabel "ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค"@ja . -:2200433 - :hasNotificationNumber "18" ; - terms:description "้บไผๆ€งใฎๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็ญ‹่‚‰็—›ใ‚„็šฎ็–นใ‚’ไผดใ†ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰/ใ‚นใ‚ณใƒƒใƒˆใƒฉใƒณใƒ‰ใฎไธ€ๅฎถ็ณปใฎๅ ฑๅ‘Š(1982ๅนด)ใซๅง‹ใพใ‚Šใ€1999ๅนดใซโ… ๅž‹TNFๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€TRAPS(TNF receptor-associated periodic fever syndrome)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚"@ja ; - terms:identifier "2200433" ; - terms:source ; - a owl:Class ; - rdfs:label "TNF receptor-associated periodic fever syndrome"@en, "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007727 ; + + nando:hasNotificationNumber "18" ; + dcterms:description "้บไผๆ€งใฎๅ‘จๆœŸๆ€ง็™บ็†ฑ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚Šใ€็ญ‹่‚‰็—›ใ‚„็šฎ็–นใ‚’ไผดใ†ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰/ใ‚นใ‚ณใƒƒใƒˆใƒฉใƒณใƒ‰ใฎไธ€ๅฎถ็ณปใฎๅ ฑๅ‘Š(1982ๅนด)ใซๅง‹ใพใ‚Šใ€1999ๅนดใซโ… ๅž‹TNFๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€TRAPS(TNF receptor-associated periodic fever syndrome)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200433" ; + dcterms:source ; + a owl:Class ; + rdfs:label "TNF receptor-associated periodic fever syndrome"@en, "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja, "ใฆใƒใƒผใˆใฌใˆใตใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "TRAPS"@en ; + skos:closeMatch obo:MONDO_0007727 ; skos:prefLabel "TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja . -:2200434 - :hasNotificationNumber "20" ; - terms:description "ไธปใจใ—ใฆ4ๆญณไปฅไธ‹ใฎๅฐๅ…ใซ็™บ็—‡ใ—ใ€้–ข็ฏ€็‚Žใƒปใถใฉใ†่†œ็‚Žใƒป็šฎ่†š็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏใ€ๆญดๅฒ็š„ใซ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น(Early-onset sarcoidosis; EOS, MIM#609464)ใจๅ‘ผใฐใ‚ŒใฆใใŸใ€‚ไธ€ๆ–นใ€1985ๅนดใ€EOSใจ้…ทไผผใ™ใ‚‹่‡จๅบŠๅƒใ‚’4ไธ–ไปฃใซๆธกใฃใฆๅ‘ˆใ™ใ‚‹ๅฎถ็ณปไพ‹ใŒBlauใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใฎ็–พๆ‚ฃใฏBlau็—‡ๅ€™็พค(MIM#186580)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚2001ๅนดใ€Blau็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆNOD2ใŒๅŒๅฎšใ•ใ‚Œใ€2005ๅนดใ€ๆœฌ้‚ฆEOS10ไพ‹ใฎ้บไผๅญ่งฃๆžใ‚ˆใ‚ŠEOSใซใŠใ„ใฆใ‚‚NOD2ใŒใใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒ้‡‘ๆพคใ‚‰ใซใ‚ˆใ‚Š่จผๆ˜Žใ•ใ‚ŒใŸใ€‚ไปŠๆ—ฅใงใฏใ€ไธก่€…ใฏๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€EOSใฏBlau็—‡ๅ€™็พคใฎๅญค็™บไพ‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200434" ; - terms:source ; - a owl:Class ; - rdfs:label "Blau syndrome, early onset sarcoidosis"@en, "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Blau syndrome"@en, "Blau็—‡ๅ€™็พค"@ja, "early onset sarcoidosis"@en, "่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; - skos:closeMatch mondo:MONDO_0008523, mondo:MONDO_0012281 ; + + nando:hasNotificationNumber "20" ; + dcterms:description "ไธปใจใ—ใฆ4ๆญณไปฅไธ‹ใฎๅฐๅ…ใซ็™บ็—‡ใ—ใ€้–ข็ฏ€็‚Žใƒปใถใฉใ†่†œ็‚Žใƒป็šฎ่†š็‚Žใ‚’3ไธปๅพดใจใ™ใ‚‹ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใฏใ€ๆญดๅฒ็š„ใซ่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น(Early-onset sarcoidosis; EOS, MIM#609464)ใจๅ‘ผใฐใ‚ŒใฆใใŸใ€‚ไธ€ๆ–นใ€1985ๅนดใ€EOSใจ้…ทไผผใ™ใ‚‹่‡จๅบŠๅƒใ‚’4ไธ–ไปฃใซๆธกใฃใฆๅ‘ˆใ™ใ‚‹ๅฎถ็ณปไพ‹ใŒBlauใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใฎ็–พๆ‚ฃใฏBlau็—‡ๅ€™็พค(MIM#186580)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚2001ๅนดใ€Blau็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆNOD2ใŒๅŒๅฎšใ•ใ‚Œใ€2005ๅนดใ€ๆœฌ้‚ฆEOS10ไพ‹ใฎ้บไผๅญ่งฃๆžใ‚ˆใ‚ŠEOSใซใŠใ„ใฆใ‚‚NOD2ใŒใใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒ้‡‘ๆพคใ‚‰ใซใ‚ˆใ‚Š่จผๆ˜Žใ•ใ‚ŒใŸใ€‚ไปŠๆ—ฅใงใฏใ€ไธก่€…ใฏๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€EOSใฏBlau็—‡ๅ€™็พคใฎๅญค็™บไพ‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200434" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Blau syndrome, early onset sarcoidosis"@en, "ใถใ‚‰ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Blau็—‡ๅ€™็พค"@ja, "Early onset sarcoidosis"@en, "่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚น"@ja ; + skos:closeMatch obo:MONDO_0008523 ; skos:prefLabel "ใƒ–ใƒฉใ‚ฆ็—‡ๅ€™็พค"@ja . -:2200435 - :hasNotificationNumber "19" ; - terms:description "ๅนผๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใ€็™บ็†ฑใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‡็˜กๆง˜็šฎ็–น็™บ็—‡ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ€่„‚่‚ช็ต„็น”็‚Žใ‚’่ชใ‚ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค(Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome :CANDLE Syndrome), ใ‚ใ‚‹ใ„ใฏ้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž๏ผˆJoint contractures, Muscle atrophy, Microcytic Anemia, and Panniculitis Induced Lipodystrophy:JMP)ใจๅŒไธ€็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ใ‚’ๆง‹ๆˆใ™ใ‚‹20Sๆง‹ๆˆๅ› ๅญใฎไธญใฎPSMB8ใŒๅŒๅฎšใ•ใ‚Œใ€ใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–่›‹็™ฝ่ณชใŒ่“„็ฉใŒๆœฌ็—‡ใฎ็™บ็—‡ใซ้–ขใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณ่–ฌใŒๅฅๅŠŸใ›ใšใ€ไป–ใซๆœ‰ๅŠนใช่–ฌๅ‰คใŒใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200435" ; - terms:source ; - a owl:Class ; - rdfs:label "Nakajyo-Nishimura syndrome"@en, "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ๅนผๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ๆ…ขๆ€งๅๅพฉๆ€งใฎ็‚Ž็—‡ใ€็™บ็†ฑใ‚’็‰นๅพดใจใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ‡็˜กๆง˜็šฎ็–น็™บ็—‡ใ€็ต็ฏ€ๆ€ง็ด…ๆ–‘ๆง˜็šฎ็–นใ€่„‚่‚ช็ต„็น”็‚Žใ‚’่ชใ‚ใ€ๆฌก็ฌฌใซ้•ทใ็ฏ€ใใ‚Œ็ซ‹ใฃใŸๆŒ‡ใ€้–ข็ฏ€ๆ‹˜็ธฎใ€้ก”้ขใจไธŠ่‚ขใ‚’ไธปไฝ“ใจใ™ใ‚‹้ƒจๅˆ†็š„่„‚่‚ช็ญ‹่‚‰่Ž็ธฎใŒ้€ฒ่กŒใ™ใ‚‹ใ€‚่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค(Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome :CANDLE Syndrome), ใ‚ใ‚‹ใ„ใฏ้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž๏ผˆJoint contractures, Muscle atrophy, Microcytic Anemia, and Panniculitis Induced Lipodystrophy:JMP)ใจๅŒไธ€็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ—ใƒญใƒ†ใ‚ขใ‚ฝใƒผใƒ ใ‚’ๆง‹ๆˆใ™ใ‚‹20Sๆง‹ๆˆๅ› ๅญใฎไธญใฎPSMB8ใŒๅŒๅฎšใ•ใ‚Œใ€ใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–่›‹็™ฝ่ณชใŒ่“„็ฉใŒๆœฌ็—‡ใฎ็™บ็—‡ใซ้–ขใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณ่–ฌใŒๅฅๅŠŸใ›ใšใ€ไป–ใซๆœ‰ๅŠนใช่–ฌๅ‰คใŒใชใ„ใŸใ‚ไบˆๅพŒไธ่‰ฏใช้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200435" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nakajo-Nishimura syndrome"@en, "ใชใ‹ใ˜ใ‚‡ใ†ใƒปใซใ—ใ‚€ใ‚‰ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Autoinflammation, lipodystrophy, and dermatosis syndrome"@en, "CANDLE syndrome"@en, "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome"@en, "JMP syndrome"@en, "Joint contractures, muscle atrophy, microcytic anemia, and panniculitis induced lipodystrophy"@en, "่„‚่‚ช็•ฐๆ „้คŠ็—‡ใŠใ‚ˆใณ็™บ็†ฑใ‚’ไผดใ†ๆ…ขๆ€ง้žๅ…ธๅž‹็š„ๅฅฝไธญ็ƒๆ€ง็šฎ่†š็–พๆ‚ฃ็—‡ๅ€™็พค"@ja, "้–ข็ฏ€ๆ‹˜็ธฎใ€็ญ‹ๅง”็ธฎใ€ๅฐ็ƒๆ€ง่ฒง่ก€ใ€่„‚่‚ช็•ฐๆ „้คŠ็—‡่ช˜ๅ› ๆ€ง่„‚่‚ช็น”็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0009726 ; skos:prefLabel "ไธญๆขใƒป่ฅฟๆ‘็—‡ๅ€™็พค"@ja . -:2200436 - :hasNotificationNumber "17" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎไปฃ่ฌ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€่‡จๅบŠ็š„็‰นๅพดใจใ—ใฆไนณๅ…ๆœŸใ‚ˆใ‚Š็™บ็—‡ใ—่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฎ‹ๅญ˜MKๆดปๆ€งใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๅฅ‡ๅฝขใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใฎ้‡ใ„็—‡็Šถใ‚’ไผดใ†ใƒกใƒใƒญใƒณ้…ธๅฐฟ็—‡ ((้…ต็ด ๆดปๆ€ง 1 %ๆœชๆบ€) ใจใ€ใ‚ใšใ‹ใซ้…ต็ด ๆดปๆ€งใŒๆฎ‹ๅญ˜ใ™ใ‚‹้ซ˜IgD็—‡ๅ€™็พค๏ผˆๅŒ1-10 %๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚1984ๅนดใซใ‚ชใƒฉใƒณใƒ€ไบบใฎๅฎถ็ณปใงๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFMF๏ผ‰ใจใ‚ˆใไผผใŸ่‡จๅบŠๅƒใ‚’็คบใ—ใชใŒใ‚‰ใ‚‚ใ€่ก€ๆธ…IgD้ซ˜ๅ€คใ‚„ใ€็™บไฝœๆ™‚ใฎใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€ไธ‹็—ขใชใฉใ„ใใคใ‹ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฎ้•ใ„ใ‹ใ‚‰ใ€FMFใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚ŒใŸใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนด่จบๆ–ญใ•ใ‚ŒใŸๆœฌ้‚ฆใงใฎ็—‡ไพ‹ใฏใ€ๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200436" ; - terms:source ; - a owl:Class ; - rdfs:label "hyper IgD syndrome"@en, "้ซ˜IgD็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "mevalonate kinase deficiency"@en, "ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009849, mondo:MONDO_0012481, mondo:MONDO_0017708 ; + + nando:hasNotificationNumber "17" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”Ÿๅˆๆˆ็ตŒ่ทฏใซ้–ขใ‚ใ‚‹ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ๏ผˆMK๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎไปฃ่ฌ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€่‡จๅบŠ็š„็‰นๅพดใจใ—ใฆไนณๅ…ๆœŸใ‚ˆใ‚Š็™บ็—‡ใ—่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎ็—…ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆฎ‹ๅญ˜MKๆดปๆ€งใซใ‚ˆใ‚Šใ€ๅ…ˆๅคฉๅฅ‡ๅฝขใ‚„็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใฎ้‡ใ„็—‡็Šถใ‚’ไผดใ†ใƒกใƒใƒญใƒณ้…ธๅฐฟ็—‡ ((้…ต็ด ๆดปๆ€ง 1 %ๆœชๆบ€) ใจใ€ใ‚ใšใ‹ใซ้…ต็ด ๆดปๆ€งใŒๆฎ‹ๅญ˜ใ™ใ‚‹้ซ˜IgD็—‡ๅ€™็พค๏ผˆๅŒ1-10 %๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚1984ๅนดใซใ‚ชใƒฉใƒณใƒ€ไบบใฎๅฎถ็ณปใงๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑ๏ผˆFMF๏ผ‰ใจใ‚ˆใไผผใŸ่‡จๅบŠๅƒใ‚’็คบใ—ใชใŒใ‚‰ใ‚‚ใ€่ก€ๆธ…IgD้ซ˜ๅ€คใ‚„ใ€็™บไฝœๆ™‚ใฎใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€ไธ‹็—ขใชใฉใ„ใใคใ‹ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฎ้•ใ„ใ‹ใ‚‰ใ€FMFใจใฏ็•ฐใชใ‚‹็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚ŒใŸใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนด่จบๆ–ญใ•ใ‚ŒใŸๆœฌ้‚ฆใงใฎ็—‡ไพ‹ใฏใ€ๅˆ่จบๆ™‚ใซIgDใฎไธŠๆ˜‡ใ‚’่ชใ‚ใชใ„ใ“ใจใŒๅคšใใ€่จบๆ–ญใซใฏๆณจๆ„ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200436" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hyper IgD syndrome"@en, "ใ“ใ†ใ‚ใ„ใ˜ใƒผใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ซ˜IgD็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HIDS"@en, "MKD"@en, "Mevalonate kinase deficiency"@en, "ใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009849, obo:MONDO_0017708 ; skos:prefLabel "้ซ˜IgD็—‡ๅ€™็พค"@ja . -:2200437 - :hasNotificationNumber "15" ; - terms:description "1997ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹็จ€ใช่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็„ก่Œๆ€งๅŒ–่†ฟๆ€ง้–ข็ฏ€็‚Žใ‚’่‡จๅบŠๅƒใฎไธปไฝ“ใจใ—ใ€ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใจๅ›Š่…ซๆ€งๅบง็˜กใ‚’ไผดใ†ไบ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200437" ; - terms:source ; - a owl:Class ; - rdfs:label "pyogenic arthritis, pyoderma gangrenosum, acne syndrome"@en, "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "acne syndrome"@en, "pyoderma gangrenosum"@en, "pyogenic arthritis"@en, "ใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค"@ja, "ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0004471, mondo:MONDO_0011438, mondo:MONDO_0011462, mondo:MONDO_0018824 ; - skos:prefLabel "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚Ž"@ja . - -:2200438 - :hasNotificationNumber "21" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏ10ๆญณๅ‰ๅพŒใฎๅฐๅ…ใซๅฅฝ็™บใ™ใ‚‹้ชจใƒป้ชจ้ซ„ใฎ็„ก่Œๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€็–ผ็—›ใ‚’ไผดใ†้ชจ้ซ„็‚ŽใŒๅคš็™บใ—ใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŽŒ่น ่†ฟ็–ฑ็—‡ใ‚„ๅฐ‹ๅธธๆ€งไนพ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€SAPHO็—‡ๅ€™็พคใ‚‚้กžไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆ—ฉๆœŸ(2ๆญณๆœชๆบ€)ใซๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ‚’็™บ็—‡ใ—ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(ไฝŽ่‰ฒ็ด ๆ€งใ€ๅฐ็ƒๆ€ง่ฒง่ก€)ๅŠใณSweet็—‡ๅ€™็พคใชใฉใฎ็šฎ่†š็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใ‚’Majeed็—‡ๅ€™็พคใจๅ‘ผใถใ€‚Majeed็—‡ๅ€™็พคใฏLPIN2้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200438" ; - terms:source ; - a owl:Class ; - rdfs:label "chronic recurrent multifocal osteomyelitis"@en, "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009813 ; + + nando:hasNotificationNumber "15" ; + dcterms:description "1997ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹็จ€ใช่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€็„ก่Œๆ€งๅŒ–่†ฟๆ€ง้–ข็ฏ€็‚Žใ‚’่‡จๅบŠๅƒใฎไธปไฝ“ใจใ—ใ€ๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใจๅ›Š่…ซๆ€งๅบง็˜กใ‚’ไผดใ†ไบ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200437" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pyogenic arthritis, pyoderma gangrenosum, acne syndrome"@en, "ใ‹ใฎใ†ใ›ใ„ใ‚€ใใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“ใƒปใˆใใ›ใ„ใฎใ†ใฒใ—ใ‚‡ใ†ใƒปใ‚ใใญใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PAPA syndrome"@en, "PAPA็—‡ๅ€™็พค"@ja, "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome"@en ; + skos:closeMatch obo:MONDO_0004471, obo:MONDO_0011462, obo:MONDO_0018824 ; + skos:prefLabel "ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "21" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏ10ๆญณๅ‰ๅพŒใฎๅฐๅ…ใซๅฅฝ็™บใ™ใ‚‹้ชจใƒป้ชจ้ซ„ใฎ็„ก่Œๆ€ง็‚Ž็—‡็–พๆ‚ฃใงใ‚ใ‚Šใ€็–ผ็—›ใ‚’ไผดใ†้ชจ้ซ„็‚ŽใŒๅคš็™บใ—ใ€ๅฏ›่งฃใจๅข—ๆ‚ชใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŽŒ่น ่†ฟ็–ฑ็—‡ใ‚„ๅฐ‹ๅธธๆ€งไนพ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€SAPHO็—‡ๅ€™็พคใ‚‚้กžไผผใ—ใŸ็–พๆ‚ฃใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸใ€ๆ—ฉๆœŸ(2ๆญณๆœชๆบ€)ใซๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ‚’็™บ็—‡ใ—ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(ไฝŽ่‰ฒ็ด ๆ€งใ€ๅฐ็ƒๆ€ง่ฒง่ก€)ๅŠใณSweet็—‡ๅ€™็พคใชใฉใฎ็šฎ่†š็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใ‚’Majeed็—‡ๅ€™็พคใจๅ‘ผใถใ€‚Majeed็—‡ๅ€™็พคใฏLPIN2้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200438" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic recurrent multifocal osteomyelitis"@en, "ใพใ‚“ใ›ใ„ใ•ใ„ใฏใคใ›ใ„ใŸใฏใคใ›ใ„ใ“ใคใšใ„ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CRMO"@en, "CRMO"@ja ; + skos:closeMatch obo:MONDO_0009813 ; skos:prefLabel "ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž"@ja . -:2200439 - :hasNotificationNumber "13" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹IL-1ใจโ… ๅž‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใซๅฏพใ—ใฆ็ซถๅˆ้˜ปๅฎณใ™ใ‚‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆใฎๆฌ ๆใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑ็—‡ใƒป้ชจ้ซ„็‚Žใƒป้ชจ่†œ็‚ŽใŒไธป็—‡็Šถใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200439" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹IL-1ใจโ… ๅž‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใซๅฏพใ—ใฆ็ซถๅˆ้˜ปๅฎณใ™ใ‚‹IL-1ใƒฌใ‚ปใƒ—ใ‚ฟใƒผใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆใฎๆฌ ๆใซใ‚ˆใ‚Š่ตทใ“ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่†ฟ็–ฑ็—‡ใƒป้ชจ้ซ„็‚Žใƒป้ชจ่†œ็‚ŽใŒไธป็—‡็Šถใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200439" ; + dcterms:source ; a owl:Class ; - rdfs:label "deficiency of the interleukin-1-receptor antagonist"@en, "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡"@ja ; + rdfs:label "Deficiency of the interleukin-1-receptor antagonist"@en, "ใ„ใ‚“ใŸใƒผใ‚ใ„ใใ‚“1ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใใฃใ“ใ†ใถใ‚“ใ—ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013021 ; - skos:prefLabel "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณโ… ๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡"@ja . + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013021 ; + skos:prefLabel "ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡"@ja . -:2200440 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200440" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:2200440" ; + dcterms:source ; a owl:Class ; - rdfs:label "15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ"@ja, "Other autoinflammatory diseases"@en ; + rdfs:label "15ใ‹ใ‚‰23ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ"@ja, "Other autoinflammatory diseases"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "15ใ‹ใ‚‰23ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ"@ja . -:2200441 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CECR1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ADA2้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹/ๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™็™บ็†ฑใ€่”“็Šถ็šฎๆ–‘ใ‚„ใƒฌใ‚คใƒŽใƒผ็—‡็Šถ็ญ‰ใฎ็šฎ่†š็—‡็Šถใ€้บป็—บใ‚„็—บใ‚Œใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ€็œผ็—‡็Šถ๏ผˆไธญๅฟƒ้™่„ˆ้–‰ๅกžใ‚„่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็ฌฌ3่„ณ็ฅž็ตŒ้บป็—บใชใฉ๏ผ‰ใชใฉใ‚’ไธป็—‡็Šถใจใ—ใ€่ก€็ฎก็‚Žใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹้บไผๆ€งใฎ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žๆง˜็–พๆ‚ฃใจใ—ใฆ2014ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็™ฝ่ก€็ƒๆธ›ๅฐ‘ใ‚„่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃๆง˜็—‡็Šถใชใฉใ€ๅคšๅฝฉใช่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚ๅˆใ€ๅคšใใฎ็—‡ไพ‹ใฏๅญฆ็ซฅๆœŸใพใงใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅŒใ˜ๅค‰็•ฐใ‚’ๆŒใคๆ‚ฃ่€…ๅŒๅฃซใ€ใ•ใ‚‰ใซใฏๅŒใ˜ๅฎถ็ณปๅ†…ใฎๆ‚ฃ่€…ๅŒๅฃซใงใ‚‚็—‡็Šถใ‚„็™บ็—‡ๅนด้ฝขใซๅคงใใชๅทฎใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200441" ; - terms:source ; - a owl:Class ; - rdfs:label "Adenosine deaminase 2 deficiency"@en, "Adenosine deaminase 2ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ADA2ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0014306 ; - skos:prefLabel "Adenosine deaminase 2ๆฌ ๆ็—‡"@ja . - -:2200442 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅๅพฉๆ€งใฎๆฐด็–ฑ็—‡ใ€้–“่ณชๆ€ง่‚บ็‚Žใ€้–ข็ฏ€็‚Žใ€็‚Ž็—‡ๆ€ง็œผ็–พๆ‚ฃใ€่…ธ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€่‚บๅ‰ฏ้ผป่…”ๆ„ŸๆŸ“็—‡ใ‚’ไผดใ†่ปฝๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใ‚’็—‡็Šถใจใ™ใ‚‹PLGC2้บไผๅญ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚PLAIDใจ้•ใ„ใ€ๅฏ’ๅ†ท่•้บป็–นใฏไผดใ‚ใชใ„ใ€‚ใŸใ ใ—ใ€PLAIDใงๆฌ ๅคฑใ™ใ‚‹CๆœซSH2้ ˜ๅŸŸๅ†…ใซใ‚ใ‚‹p.Ser707Tyrๅค‰็•ฐใฎ๏ผ‘ๅฎถ็ณปใฎใฟใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200442" ; - terms:source ; - a owl:Class ; - rdfs:label "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation"@en, "่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CECR1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ADA2้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹/ๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™็™บ็†ฑใ€่”“็Šถ็šฎๆ–‘ใ‚„ใƒฌใ‚คใƒŽใƒผ็—‡็Šถ็ญ‰ใฎ็šฎ่†š็—‡็Šถใ€้บป็—บใ‚„็—บใ‚Œใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ€็œผ็—‡็Šถ๏ผˆไธญๅฟƒ้™่„ˆ้–‰ๅกžใ‚„่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็ฌฌ3่„ณ็ฅž็ตŒ้บป็—บใชใฉ๏ผ‰ใชใฉใ‚’ไธป็—‡็Šถใจใ—ใ€่ก€็ฎก็‚Žใ‚’ๅŸบๆœฌ็—…ๆ…‹ใจใ™ใ‚‹้บไผๆ€งใฎ็ต็ฏ€ๆ€งๅคš็™บๅ‹•่„ˆ็‚Žๆง˜็–พๆ‚ฃใจใ—ใฆ2014ๅนดใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใฎๅพŒใ€็™ฝ่ก€็ƒๆธ›ๅฐ‘ใ‚„่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃๆง˜็—‡็Šถใชใฉใ€ๅคšๅฝฉใช่‡จๅบŠๅƒใ‚’ๅ‘ˆใ™ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใ„ใ‚‹ใ€‚ๅˆใ€ๅคšใใฎ็—‡ไพ‹ใฏๅญฆ็ซฅๆœŸใพใงใซ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใฎใ€ๅŒใ˜ๅค‰็•ฐใ‚’ๆŒใคๆ‚ฃ่€…ๅŒๅฃซใ€ใ•ใ‚‰ใซใฏๅŒใ˜ๅฎถ็ณปๅ†…ใฎๆ‚ฃ่€…ๅŒๅฃซใงใ‚‚็—‡็Šถใ‚„็™บ็—‡ๅนด้ฝขใซๅคงใใชๅทฎใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200441" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ADA2ๆฌ ๆ็—‡"@ja, "Adenosine deaminase 2 deficiency"@en, "ใˆใƒผใงใƒใƒผใˆใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ADA2 deficiency"@en, "ADA2ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0014306 ; + skos:prefLabel "ADA2ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅๅพฉๆ€งใฎๆฐด็–ฑ็—‡ใ€้–“่ณชๆ€ง่‚บ็‚Žใ€้–ข็ฏ€็‚Žใ€็‚Ž็—‡ๆ€ง็œผ็–พๆ‚ฃใ€่…ธ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€่‚บๅ‰ฏ้ผป่…”ๆ„ŸๆŸ“็—‡ใ‚’ไผดใ†่ปฝๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใ‚’็—‡็Šถใจใ™ใ‚‹PLGC2้บไผๅญ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚PLAIDใจ้•ใ„ใ€ๅฏ’ๅ†ท่•้บป็–นใฏไผดใ‚ใชใ„ใ€‚ใŸใ ใ—ใ€PLAIDใงๆฌ ๅคฑใ™ใ‚‹CๆœซSH2้ ˜ๅŸŸๅ†…ใซใ‚ใ‚‹p.Ser707Tyrๅค‰็•ฐใฎ๏ผ‘ๅฎถ็ณปใฎใฟใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200442" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation"@en, "ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใŒใฃใบใ„ใตใ‰ใ™ใตใ‰ใ‚Šใฑใƒผใœใ—ใƒผใŒใ‚“ใพ2ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใŸใ„ใ‘ใฃใใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "APLAID"@en ; - skos:closeMatch mondo:MONDO_0013944 ; + skos:closeMatch obo:MONDO_0013944 ; skos:prefLabel "่‡ชๅทฑ็‚Ž็—‡ๅˆไฝตใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡"@ja . -:2200443 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CARD14้บไผๅญใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹ๅฐ‹ๅธธๆ€งไนพ็™ฌใ‚„่†ฟ็–ฑๆ€งไนพ็™ฌใฎ่ฒฌไปป้บไผๅญใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ใพใŸใ€้กžไผผใฎ็–พๆ‚ฃใงใ‚ใ‚‹familial pityriasis rubra pilarisใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใ‚‚ๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200443" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚CARD14้บไผๅญใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹ๅฐ‹ๅธธๆ€งไนพ็™ฌใ‚„่†ฟ็–ฑๆ€งไนพ็™ฌใฎ่ฒฌไปป้บไผๅญใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ใพใŸใ€้กžไผผใฎ็–พๆ‚ฃใงใ‚ใ‚‹familial pityriasis rubra pilarisใฎ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใ‚‚ๅˆคๆ˜Žใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200443" ; + dcterms:source ; a owl:Class ; - rdfs:label "CARD14 deficiency"@en, "Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡"@ja ; + rdfs:label "CARD14 deficiency"@en, "CARD14็•ฐๅธธ็—‡"@ja, "ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ14ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "CARD14็•ฐๅธธ็—‡"@ja ; - skos:prefLabel "Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡"@ja . - -:2200444 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฑใƒซใƒ“ใ‚บใƒ ๏ผˆCherubism๏ผ‰ใฏใ€ไธŠ้กŽใพใŸใฏไธ‹้กŽใฎ้€ฒ่กŒๆ€ง็„ก็—›ๆ€งไธกๅดๆ€งๆ‹กๅคงใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใŠใ„ใฆ้ชจ่žๆ€ง็—…ๅค‰ใจ่ปŸ้ƒจ็ต„็น”ใฎ็ทš็ถญๆ€ง่ปŸ้ชจ็•ฐๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใฎ้Žๅ‰ฐๅๅฟœใซใ‚ˆใ‚Š็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณๅ‰้ง†ไฝ“ใ‚„็ ด้ชจ็ดฐ่ƒžๆ–ฐ็”Ÿใซ้–ขใ‚ใ‚‹ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็ ด้ชจ็ดฐ่ƒžใฎ็”ฃ็”ŸใŒไบข้€ฒใ—ใ€็‚Ž็—‡้ƒจไฝใซ็ ด้ชจ็ดฐ่ƒžใฏ้Žๅ‰ฐใซ้›†็ฉใ™ใ‚‹ใ“ใจใŒ่ƒŒๆ™ฏใซใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200444" ; - terms:source ; - a owl:Class ; - rdfs:label "Cherubism"@en, "ใ‚ฑใƒซใƒ“ใ‚บใƒ "@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007315 ; + rdfs:subClassOf ; + skos:altLabel "CARD14ๆฌ ๆ็—‡"@ja, "Caspase recruitment domain-containing protein 14 deficiency"@en, "Caspase recruitment domain-containing protein 14็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0011269 ; + skos:prefLabel "CARD14็•ฐๅธธ็—‡"@ja . + + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฑใƒซใƒ“ใ‚บใƒ ๏ผˆCherubism๏ผ‰ใฏใ€ไธŠ้กŽใพใŸใฏไธ‹้กŽใฎ้€ฒ่กŒๆ€ง็„ก็—›ๆ€งไธกๅดๆ€งๆ‹กๅคงใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใŠใ„ใฆ้ชจ่žๆ€ง็—…ๅค‰ใจ่ปŸ้ƒจ็ต„็น”ใฎ็ทš็ถญๆ€ง่ปŸ้ชจ็•ฐๅฝขๆˆใ‚’่ชใ‚ใ‚‹ใ€‚ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใฎ้Žๅ‰ฐๅๅฟœใซใ‚ˆใ‚Š็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณๅ‰้ง†ไฝ“ใ‚„็ ด้ชจ็ดฐ่ƒžๆ–ฐ็”Ÿใซ้–ขใ‚ใ‚‹ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็ ด้ชจ็ดฐ่ƒžใฎ็”ฃ็”ŸใŒไบข้€ฒใ—ใ€็‚Ž็—‡้ƒจไฝใซ็ ด้ชจ็ดฐ่ƒžใฏ้Žๅ‰ฐใซ้›†็ฉใ™ใ‚‹ใ“ใจใŒ่ƒŒๆ™ฏใซใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200444" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cherubism"@en, "ใ‘ใ‚‹ใณใšใ‚€"@ja-Hira, "ใ‚ฑใƒซใƒ“ใ‚บใƒ "@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007315 ; skos:prefLabel "ใ‚ฑใƒซใƒ“ใ‚บใƒ "@ja . -:2200445 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; - terms:identifier "2200445" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:2200445" ; + dcterms:source ; a owl:Class ; - rdfs:label "IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡"@ja, "Interleukin-10/interleukin-10 receptor deficiency"@en ; + rdfs:label "IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡"@ja, "Interleukin-10/interleukin-10 receptor deficiency"@en, "ใ‚ใ„ใˆใ‚‹10/ใ‚ใ„ใˆใ‚‹10ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "IL-10/IL-10 receptor deficiency"@en ; skos:prefLabel "IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡"@ja . -:2200446 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; - terms:identifier "2200446" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200446" ; + dcterms:source ; a owl:Class ; - rdfs:label "IL10 deficiency"@en, "IL10ๆฌ ๆ็—‡"@ja ; + rdfs:label "IL10 deficiency"@en, "IL10ๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใˆใ‚‹10ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Interleukin-10 deficiency"@en ; + skos:closeMatch obo:MONDO_0016542 ; skos:prefLabel "IL10ๆฌ ๆ็—‡"@ja . -:2200447 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; - terms:identifier "2200447" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200447" ; + dcterms:source ; a owl:Class ; - rdfs:label "IL-10RA deficiency"@en, "IL-10RAๆฌ ๆ็—‡"@ja ; + rdfs:label "IL-10RA deficiency"@en, "IL-10RAๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใˆใ‚‹10ใ‚ใƒผใ‚‹ใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013153 ; skos:prefLabel "IL-10RAๆฌ ๆ็—‡"@ja . -:2200448 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; - terms:identifier "2200448" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL-10/IL-10ๅ—ๅฎนไฝ“้บไผๅญ็•ฐๅธธ็—‡ใฏใ€IL-10้บไผๅญใ€IL-10ๅ—ๅฎนไฝ“้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹่‡ดๆญป็š„ใช็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๆฅใ™็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ใƒˆใƒซใ‚ณใ€ใ‚ขใƒฉใƒ–ใชใฉไธญๆฑใ‚’ไธญๅฟƒใซๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซ่ฟ‘่ฆชๅฉšใฎๅฎถ็ณปใซๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200448" ; + dcterms:source ; a owl:Class ; - rdfs:label "IL-10RB deficiency"@en, "IL-10RBๆฌ ๆ็—‡"@ja ; + rdfs:label "IL-10RB deficiency"@en, "IL-10RBๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใˆใ‚‹10ใ‚ใƒผใ‚‹ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012941 ; skos:prefLabel "IL-10RBๆฌ ๆ็—‡"@ja . -:2200449 - :hasNotificationNumber "22" ; - terms:identifier "2200449" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:2200449" ; + dcterms:source ; a owl:Class ; - rdfs:label "NAPS12"@ja, "NLRP12-associated periodic syndrome"@en ; + rdfs:label "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja, "NLRP12-associated periodic syndrome"@en, "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใดใƒผ12ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCAS2"@en, "Familial cold autoinflammatory syndrome"@en, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0012724, obo:MONDO_0018768 ; + skos:prefLabel "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:2200450" ; + dcterms:source ; + a owl:Class ; + rdfs:label "DADA2"@ja, "Deficiency of the enzyme ADA2"@en, "ใงใƒใƒผใˆใƒผใงใƒใƒผใˆใƒผ2"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "NAPS12"@ja . - -:2200450 - :hasNotificationNumber "22" ; - terms:identifier "2200450" ; - terms:source ; - a owl:Class ; - rdfs:label "DADA2"@ja, "deficiency of the enzyme ADA2"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Adenosine deaminase 2 deficiency "@en ; - skos:closeMatch mondo:MONDO_0014306 ; + rdfs:subClassOf ; + skos:altLabel "Adenosine deaminase 2 deficiency"@en, "Deficiency of Adenosine Deaminase 2"@en ; + skos:closeMatch obo:MONDO_0014306 ; skos:prefLabel "DADA2"@ja . -:2200451 - :hasNotificationNumber "22" ; - terms:identifier "2200451" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:identifier "NANDO:2200451" ; + dcterms:source ; a owl:Class ; - rdfs:label "PLCG2็•ฐๅธธ็—‡"@ja, "PLCg2 deficiency"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "PLCG2็•ฐๅธธ็—‡"@ja, "PLCg2 deficiency"@en, "ใดใƒผใˆใ‚‹ใ—ใƒผใ˜ใƒผ2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PLCG2-associated antibody deficiency"@en, "PLCฮณ2 deficiency"@en, "PLCฮณ2-associated antibody deficiency"@en ; + skos:closeMatch obo:MONDO_0013944 ; skos:prefLabel "PLCG2็•ฐๅธธ็—‡"@ja . -:2200452 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL36RNๆฌ ๆ็—‡ใฏใ€่‡จๅบŠ็š„ใซใฏๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใจ่จบๆ–ญใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ€ใใฎใ†ใกใฎไธ€้ƒจใฎๆ‚ฃ่€…ใซIL-36ๅ—ๅฎนไฝ“ใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200452" ; - terms:source ; - a owl:Class ; - rdfs:label "IL36RN deficiency"@en, "IL36RNๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚IL36RNๆฌ ๆ็—‡ใฏใ€่‡จๅบŠ็š„ใซใฏๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹ๆฑŽ็™บๆ€ง่†ฟ็–ฑๆ€งไนพ็™ฌใจ่จบๆ–ญใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ€ใใฎใ†ใกใฎไธ€้ƒจใฎๆ‚ฃ่€…ใซIL-36ๅ—ๅฎนไฝ“ใ‚ขใƒณใ‚ฟใ‚ดใƒ‹ใ‚นใƒˆ้บไผๅญ็•ฐๅธธใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200452" ; + dcterms:source ; + a owl:Class ; + rdfs:label "IL36RN deficiency"@en, "IL36RNๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใˆใ‚‹36ใ‚ใƒผใ‚‹ใˆใฌใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "DITRA"@en, "Deficiency of interleukin thirty-six receptor antagonist"@en, "Deficiency of interleukin-36 receptor antagonist"@en ; + skos:closeMatch obo:MONDO_0013626 ; skos:prefLabel "IL36RNๆฌ ๆ็—‡"@ja . -:2200453 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚Majeed็—‡ๅ€™็พคใฏใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž๏ผˆCRMO๏ผšchronic recurrent multifocal osteomyelitis๏ผ‰ใซๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€๏ผˆCDA๏ผšcongenital dyserythropoietic anemia๏ผ‰ใŠใ‚ˆใณ็šฎ็–น๏ผˆSweet็—‡ๅ€™็พคใพใŸใฏ่†ฟ็–ฑ็—‡๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200453" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚Majeed็—‡ๅ€™็พคใฏใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Ž๏ผˆCRMO๏ผšchronic recurrent multifocal osteomyelitis๏ผ‰ใซๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€๏ผˆCDA๏ผšcongenital dyserythropoietic anemia๏ผ‰ใŠใ‚ˆใณ็šฎ็–น๏ผˆSweet็—‡ๅ€™็พคใพใŸใฏ่†ฟ็–ฑ็—‡๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200453" ; + dcterms:source ; a owl:Class ; - rdfs:label "Majeed syndrome"@en, "Majeed็—‡ๅ€™็พค"@ja ; + rdfs:label "Majeed syndrome"@en, "Majeed็—‡ๅ€™็พค"@ja, "ใพใ˜ใƒใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutropilic dermatosis"@en, "MJDS"@en ; - skos:closeMatch mondo:MONDO_0012316 ; + rdfs:subClassOf ; + skos:altLabel "Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis"@en, "MJDS"@en ; + skos:closeMatch obo:MONDO_0012316 ; skos:prefLabel "Majeed็—‡ๅ€™็พค"@ja . -:2200454 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใฏใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค๏ผˆcryopyrin-associated periodic syndrome๏ผšCAPS๏ผ‰ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšNLRP3ใ€MEFVใ€TNFRSF1Aใ€MVK้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—‡ไพ‹ใซใ€2008ๅนดNLRP12้บไผๅญใซใƒ˜ใƒ†ใƒญๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹๏ผˆfamilial cold autoinflammatory syndrome๏ผšFCAS2๏ผ‰ใ€ใ‚ใ‚‹ใ„ใฏNAPS12๏ผˆNLRP12-associated periodic syndrome๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200454" ; - terms:source ; - a owl:Class ; - rdfs:label "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja, "NLRP12-associated periodic syndrome"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใฏใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พค๏ผˆcryopyrin-associated periodic syndrome๏ผšCAPS๏ผ‰ใจๅŒๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšNLRP3ใ€MEFVใ€TNFRSF1Aใ€MVK้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„็—‡ไพ‹ใซใ€2008ๅนดNLRP12้บไผๅญใซใƒ˜ใƒ†ใƒญๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹๏ผˆfamilial cold autoinflammatory syndrome๏ผšFCAS2๏ผ‰ใ€ใ‚ใ‚‹ใ„ใฏNAPS12๏ผˆNLRP12-associated periodic syndrome๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200454" ; + dcterms:source ; + a owl:Class ; + rdfs:label "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja, "NLRP12-associated periodic syndrome"@en, "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใดใƒผ12ใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚…ใ†ใใ›ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCAS2"@en, "Familial cold autoinflammatory syndrome"@en, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค2ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0012724, obo:MONDO_0018768 ; skos:prefLabel "NLRP-12้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พค"@ja . -:2200455 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅฏ’ๅ†ท่ช˜็™บ่•้บป็–นใ‚’ไธป็—‡็Šถใจใ—ใฆใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃ๏ฝฅใ‚ขใƒฌใƒซใ‚ฎใƒผ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚Phospholipase Cg2๏ผˆPLCG2๏ผ‰้บไผๅญใฎ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200455" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡ใฏใ€ๅฏ’ๅ†ท่ช˜็™บ่•้บป็–นใ‚’ไธป็—‡็Šถใจใ—ใฆใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃ๏ฝฅใ‚ขใƒฌใƒซใ‚ฎใƒผ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใงใ‚ใ‚‹ใ€‚Phospholipase Cg2๏ผˆPLCG2๏ผ‰้บไผๅญใฎ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200455" ; + dcterms:source ; a owl:Class ; - rdfs:label "PLCG2-associated antibody deficiency and immune dysregulation"@en, "ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡"@ja ; + rdfs:label "PLCG2-associated antibody deficiency and immune dysregulation"@en, "ใตใ‰ใ™ใตใ‰ใ‚Šใฑใƒผใœใ—ใƒผใŒใ‚“ใพ2ใ‹ใ‚“ใ‚Œใ‚“ใ“ใ†ใŸใ„ใ‘ใฃใใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "PLAID"@en ; - skos:closeMatch mondo:MONDO_0013766 ; + rdfs:subClassOf ; + skos:altLabel "PLAID"@en, "Phospholipase Cฮณ2-associated antibody deficiency and immune dysregulation"@en ; + skos:closeMatch obo:MONDO_0013766 ; skos:prefLabel "ใƒ•ใ‚ฉใ‚นใƒ•ใ‚ฉใƒชใƒ‘ใƒผใ‚ผCฮณ2้–ข้€ฃๆŠ—ไฝ“ๆฌ ๆๅ…็–ซ็•ฐๅธธ็—‡"@ja . -:2200456 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚RBCK1ๆฌ ๆ็—‡ใฏใ€็นฐใ‚Š่ฟ”ใ™็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ถ™็ถšใ™ใ‚‹็‚Ž็—‡็—…ๆ…‹ใ€็ญ‹๏ฝฅๅฟƒ็ญ‹๏ฝฅ่‚่‡“ใซ็›ด้Ž–ไธŠใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใฎใŸใ‚ใ€ๅฟƒ็ญ‹้šœๅฎณใ€็ญ‹้šœๅฎณใ‚’ใใŸใ™ใ€‚NF-kBๆดปๆ€งๅŒ–ใซ้–ขใ‚ใ‚‹ใ€LUBAC(linear ubiquitin chain assembly)ใฎไธ€ๆง‹ๆˆๅˆ†ๅญใงใ‚ใ‚‹RBCK1้บไผๅญใฎๆฉŸ่ƒฝๅ–ชๅคฑใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200456" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚RBCK1ๆฌ ๆ็—‡ใฏใ€็นฐใ‚Š่ฟ”ใ™็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ถ™็ถšใ™ใ‚‹็‚Ž็—‡็—…ๆ…‹ใ€็ญ‹๏ฝฅๅฟƒ็ญ‹๏ฝฅ่‚่‡“ใซ็›ด้Ž–ไธŠใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใฎใŸใ‚ใ€ๅฟƒ็ญ‹้šœๅฎณใ€็ญ‹้šœๅฎณใ‚’ใใŸใ™ใ€‚NF-kBๆดปๆ€งๅŒ–ใซ้–ขใ‚ใ‚‹ใ€LUBAC(linear ubiquitin chain assembly)ใฎไธ€ๆง‹ๆˆๅˆ†ๅญใงใ‚ใ‚‹RBCK1้บไผๅญใฎๆฉŸ่ƒฝๅ–ชๅคฑใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200456" ; + dcterms:source ; a owl:Class ; - rdfs:label "RBCK1 deficiency"@en, "RBCK1ๆฌ ๆ็—‡"@ja ; + rdfs:label "RBCK1 deficiency"@en, "RBCK1ๆฌ ๆ็—‡"@ja, "ใ‚ใƒผใ‚‹ใณใƒผใ—ใƒผใ‘ใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018348 ; skos:prefLabel "RBCK1ๆฌ ๆ็—‡"@ja . -:2200457 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚SLC29A3็•ฐๅธธ็—‡ใฏใ€SLC29A3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒฉใƒ–ๅฎถ็ณปใ‚’ไธญๅฟƒใซใ€SLC29A3ๅค‰็•ฐใŒๅŽŸๅ› ใงใ€้ ญๆ–‡ๅญ—ใŒHใงๅง‹ใพใ‚‹ใ€่‰ฒ็ด ้Žๅ‰ฐ็—‡ (Hyperpigmentation), ๅคšๆฏ›็—‡ (Hypertrichosis), ่‚่„พ่…ซ (Hepatosplenomegaly), ๅฟƒๅฅ‡ๅฝข (Heart anomalies), ้›ฃ่ด (Hearing loss), ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ (Hypogonadism), ไฝŽ่บซ้•ท (low Height), ้ซ˜่ก€็ณ– (Hyperglycemia)ใจใ„ใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹H็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€่‡ชๅทฑ็‚Ž็—‡็—‡็Šถใ‚’ๆœ‰ใ—ใ€H็—‡ๅ€™็พคใจๅ…ฑ้€šใฎ็šฎ่†š็—‡็Šถใ‚’ๅ‘ˆใ—ใŸๅฐๅ…ใงSLC29A3ๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€ใ“ใฎ้บไผๅญๅค‰็•ฐใ‚‚่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎๅŽŸๅ› ใจใชใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚"@ja ; - terms:identifier "2200457" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚SLC29A3็•ฐๅธธ็—‡ใฏใ€SLC29A3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ขใƒฉใƒ–ๅฎถ็ณปใ‚’ไธญๅฟƒใซใ€SLC29A3ๅค‰็•ฐใŒๅŽŸๅ› ใงใ€้ ญๆ–‡ๅญ—ใŒHใงๅง‹ใพใ‚‹ใ€่‰ฒ็ด ้Žๅ‰ฐ็—‡ (Hyperpigmentation), ๅคšๆฏ›็—‡ (Hypertrichosis), ่‚่„พ่…ซ (Hepatosplenomegaly), ๅฟƒๅฅ‡ๅฝข (Heart anomalies), ้›ฃ่ด (Hearing loss), ๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ (Hypogonadism), ไฝŽ่บซ้•ท (low Height), ้ซ˜่ก€็ณ– (Hyperglycemia)ใจใ„ใฃใŸ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹H็—‡ๅ€™็พคใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใŸใ€‚ใใฎๅพŒใ€่‡ชๅทฑ็‚Ž็—‡็—‡็Šถใ‚’ๆœ‰ใ—ใ€H็—‡ๅ€™็พคใจๅ…ฑ้€šใฎ็šฎ่†š็—‡็Šถใ‚’ๅ‘ˆใ—ใŸๅฐๅ…ใงSLC29A3ๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚Œใ€ใ“ใฎ้บไผๅญๅค‰็•ฐใ‚‚่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎๅŽŸๅ› ใจใชใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200457" ; + dcterms:source ; a owl:Class ; - rdfs:label "SLC29A3 deficiency"@en, "SLC29A3็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "SLC29A3 deficiency"@en, "SLC29A3็•ฐๅธธ็—‡"@ja, "ใˆใ™ใˆใ‚‹ใ—ใƒผ29ใˆใƒผ3ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011273 ; skos:prefLabel "SLC29A3็•ฐๅธธ็—‡"@ja . -:2200458 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚TNFAIP3้บไผๅญใซใ‚ˆใ‚Šใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹ๅˆ†ๅญA20ใฏใ€tumor necrosis factor (TNF) โ€“ nuclear factor (NF)-ฮบB็ตŒ่ทฏใ‚’ๆŠ‘ๅˆถ็š„ใซ่ชฟ็ฏ€ใ™ใ‚‹ๅˆ†ๅญใงใ‚ใ‚‹ใ€‚2015ๅนด12ๆœˆใซTNFAIP3้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง่‹ฅๅนด็™บ็—‡ใ™ใ‚‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ๆง˜ใฎ็–พๆ‚ฃใจใ—ใฆA20ใƒใƒ—ใƒญไธๅ…จ็—‡(HA20)ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚A20ใซใฏNๆœซ็ซฏ้ ˜ๅŸŸใฎovarian tumor (OTU)ใƒ‰ใƒกใ‚คใƒณใจCๆœซ็ซฏ้ ˜ๅŸŸใซ7ใคใฎzinc finger(ZF)ใƒ‰ใƒกใ‚คใƒณใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚ŒTNF-ฮฑใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซใŠใ„ใฆRIP1ใฎK63ใƒใƒชใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’่„ฑใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–ใ™ใ‚‹ไฝœ็”จใจใ€4็•ช็›ฎใฎZFใŒreceptor interacting protein kinase 1 (RIP1)ใซK48ใƒใƒใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’ไป˜ๅŠ ใ™ใ‚‹ใ“ใจใงใ€ใƒ—ใƒญใƒ†ใ‚ขใƒผใ‚ผใซใ‚ˆใ‚Šๅˆ†่งฃใ™ใ‚‹ไฝœ็”จใ‚’ๆŒใคใ€‚ใพใŸใ€7็•ช็›ฎใฎZFใŒ็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใจ็ตๅˆใ™ใ‚‹ใ“ใจใงใ€ใƒชใ‚ฌใƒณใƒ‰ๅˆบๆฟ€ใซใ‚ˆใ‚Šๅคš้‡ไฝ“ใ‚’ๅฝขๆˆใ—ใ‚ˆใ†ใจใ™ใ‚‹TNFๅ—ๅฎนไฝ“่ค‡ๅˆไฝ“ใจใ€ใใ“ใซไผšๅˆใ™ใ‚‹linear ubiquitin chain assembly complex (LUBAC)ใ‚„inhibitor of NF-ฮบB kinase (IKK)่ค‡ๅˆไฝ“ใชใฉใฎNF-ฮบBๆดปๆ€งๅŒ–ๅˆ†ๅญใฎ่งฃ้›ขใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ใ“ใฎ3ใคใฎไฝœ็”จใซใ‚ˆใฃใฆใ€TNF - NF-ฮบB็ตŒ่ทฏใซๅฏพใ—ใฆๆŠ‘ๅˆถ็š„ใซๅƒใใ“ใจใซใชใ‚‹ใ€‚HA20ๆ‚ฃ่€…ใงใฏใ€A20ใฎใƒใƒ—ใƒญไธๅ…จใซใ‚ˆใฃใฆใ€ใ‚ทใ‚ฐใƒŠใƒซไผ้”ๆŠ‘ๅˆถๅŠนๆžœใŒๆธ›ๅผฑใ™ใ‚‹ใ“ใจใŒไธป่ฆใช่ฆๅ› ใจใชใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ…จ่บซๆ€งใฎ็‚Ž็—‡็—…ๆ…‹(ใ™ใชใ‚ใก่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ)ใ‚’็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200458" ; - terms:source ; - a owl:Class ; - rdfs:label "A20 haploinsufficiency"@en, "A20ใƒใƒ—ใƒญไธๅ…จ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚TNFAIP3้บไผๅญใซใ‚ˆใ‚Šใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹ๅˆ†ๅญA20ใฏใ€tumor necrosis factor (TNF) โ€“ nuclear factor (NF)-ฮบB็ตŒ่ทฏใ‚’ๆŠ‘ๅˆถ็š„ใซ่ชฟ็ฏ€ใ™ใ‚‹ๅˆ†ๅญใงใ‚ใ‚‹ใ€‚2015ๅนด12ๆœˆใซTNFAIP3้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใง่‹ฅๅนด็™บ็—‡ใ™ใ‚‹ใƒ™ใƒผใƒใ‚งใƒƒใƒˆ็—…ๆง˜ใฎ็–พๆ‚ฃใจใ—ใฆA20ใƒใƒ—ใƒญไธๅ…จ็—‡(HA20)ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚A20ใซใฏNๆœซ็ซฏ้ ˜ๅŸŸใฎovarian tumor (OTU)ใƒ‰ใƒกใ‚คใƒณใจCๆœซ็ซฏ้ ˜ๅŸŸใซ7ใคใฎzinc finger(ZF)ใƒ‰ใƒกใ‚คใƒณใŒใ‚ใ‚Šใ€ใใ‚Œใžใ‚ŒTNF-ฮฑใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซใŠใ„ใฆRIP1ใฎK63ใƒใƒชใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’่„ฑใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–ใ™ใ‚‹ไฝœ็”จใจใ€4็•ช็›ฎใฎZFใŒreceptor interacting protein kinase 1 (RIP1)ใซK48ใƒใƒใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใ‚’ไป˜ๅŠ ใ™ใ‚‹ใ“ใจใงใ€ใƒ—ใƒญใƒ†ใ‚ขใƒผใ‚ผใซใ‚ˆใ‚Šๅˆ†่งฃใ™ใ‚‹ไฝœ็”จใ‚’ๆŒใคใ€‚ใพใŸใ€7็•ช็›ฎใฎZFใŒ็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณ้Ž–ใจ็ตๅˆใ™ใ‚‹ใ“ใจใงใ€ใƒชใ‚ฌใƒณใƒ‰ๅˆบๆฟ€ใซใ‚ˆใ‚Šๅคš้‡ไฝ“ใ‚’ๅฝขๆˆใ—ใ‚ˆใ†ใจใ™ใ‚‹TNFๅ—ๅฎนไฝ“่ค‡ๅˆไฝ“ใจใ€ใใ“ใซไผšๅˆใ™ใ‚‹linear ubiquitin chain assembly complex (LUBAC)ใ‚„inhibitor of NF-ฮบB kinase (IKK)่ค‡ๅˆไฝ“ใชใฉใฎNF-ฮบBๆดปๆ€งๅŒ–ๅˆ†ๅญใฎ่งฃ้›ขใ‚’ไฟƒ้€ฒใ™ใ‚‹ใ€‚ใ“ใฎ3ใคใฎไฝœ็”จใซใ‚ˆใฃใฆใ€TNF - NF-ฮบB็ตŒ่ทฏใซๅฏพใ—ใฆๆŠ‘ๅˆถ็š„ใซๅƒใใ“ใจใซใชใ‚‹ใ€‚HA20ๆ‚ฃ่€…ใงใฏใ€A20ใฎใƒใƒ—ใƒญไธๅ…จใซใ‚ˆใฃใฆใ€ใ‚ทใ‚ฐใƒŠใƒซไผ้”ๆŠ‘ๅˆถๅŠนๆžœใŒๆธ›ๅผฑใ™ใ‚‹ใ“ใจใŒไธป่ฆใช่ฆๅ› ใจใชใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใงใ‚ใ‚‹TNF-ฮฑใ€IL-6ใ€IL-1ฮฒ็ญ‰ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€ๅ…จ่บซๆ€งใฎ็‚Ž็—‡็—…ๆ…‹(ใ™ใชใ‚ใก่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃ)ใ‚’็”Ÿใ˜ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200458" ; + dcterms:source ; + a owl:Class ; + rdfs:label "A20 haploinsufficiency"@en, "A20ใƒใƒ—ใƒญไธๅ…จ็—‡"@ja, "ใˆใƒผ20ใฏใทใ‚ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HA20"@en ; + skos:closeMatch obo:MONDO_0100222 ; skos:prefLabel "A20ใƒใƒ—ใƒญไธๅ…จ็—‡"@ja . -:2200459 - :hasNotificationNumber "22" ; - terms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRC4็•ฐๅธธ็—‡ใฏใ€NLRC4ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็‚Ž็—‡ใ‚’ไธป็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ไฝ“็ดฐ่ƒžใƒขใ‚ถใ‚คใ‚ฏใฎ็—‡ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200459" ; - terms:source ; - a owl:Class ; - rdfs:label "Familial cold autoinflammatory syndrome 4"@en, "NLRC๏ผ”็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "FCAS4"@en ; - skos:closeMatch mondo:MONDO_0014498 ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ๅฎถๆ—ๆ€งๅœฐไธญๆตท็†ฑใ€ใ‚ฏใƒชใ‚ชใƒ”ใƒชใƒณ้–ข้€ฃๅ‘จๆœŸ็†ฑ็—‡ๅ€™็พคใ€TNFๅ—ๅฎนไฝ“้–ข้€ฃๅ‘จๆœŸๆ€ง็—‡ๅ€™็พคใ€Blau็—‡ๅ€™็พคใƒป่‹ฅๅนด็™บ็—‡ใ‚ตใƒซใ‚ณใ‚คใƒ‰ใƒผใ‚ทใ‚นใ€ไธญๆข-่ฅฟๆ‘็—‡ๅ€™็พคใ€้ซ˜IgD็—‡ๅ€™็พค๏ผˆใƒกใƒใƒญใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใ€ๅŒ–่†ฟๆ€ง็„ก่Œๆ€ง้–ข็ฏ€็‚ŽใƒปๅฃŠ็–ฝๆ€ง่†ฟ็šฎ็—‡ใƒปใ‚ขใ‚ฏใƒ็—‡ๅ€™็พคใ€ๆ…ขๆ€งๅ†็™บๆ€งๅคš็™บๆ€ง้ชจ้ซ„็‚Žใ€ใ‚คใƒณใ‚ฟใƒผใƒญใ‚คใ‚ญใƒณIๅ—ๅฎนไฝ“ๆ‹ฎๆŠ—ๅˆ†ๅญๆฌ ๆ็—‡ใ€ใ‚’้™คใ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใฎไธญใงใ€ใƒกใƒณใƒ‡ใƒซ้บไผๆ€ง็–พๆ‚ฃใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚NAPS12, DADA2, IL10ๆฌ ๆ็—‡, IL-10RAๆฌ ๆ็—‡, IL-10RBๆฌ ๆ็—‡, IL36RNๆฌ ๆ็—‡, Majeed็—‡ๅ€™็พค, CARD14ๆฌ ๆ็—‡, PLCG2็•ฐๅธธ็—‡, RBCK1ๆฌ ๆ็—‡, Cherubism, SLC29A3็•ฐๅธธ็—‡็ญ‰ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚NLRC4็•ฐๅธธ็—‡ใฏใ€NLRC4ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็‚Ž็—‡ใ‚’ไธป็—…ๆ…‹ใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ไฝ“็ดฐ่ƒžใƒขใ‚ถใ‚คใ‚ฏใฎ็—‡ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚NLRC๏ผ”็•ฐๅธธ็—‡ใงใฏIL-1ฮฒใจIL-18ใŒ้Žๅ‰ฐ็”ฃ็”Ÿใ•ใ‚Œใ€็™บ็†ฑใ€ๅฏ’ๅ†ท่•้บป็–นใ€้–ข็ฏ€็—›ใ€ไนณๅ…ๆœŸ็™บ็—‡่…ธ็‚Žใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธๆดปๆ€งๅŒ–็—‡ๅ€™็พคๆง˜็—‡็Šถใชใฉๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200459" ; + dcterms:source ; + a owl:Class ; + rdfs:label "NLRC4 mutation"@en, "NLRC๏ผ”็•ฐๅธธ็—‡"@ja, "ใˆใฌใˆใ‚‹ใ‚ใƒผใ‚‹ใ—ใƒผ4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0014472 ; skos:prefLabel "NLRC๏ผ”็•ฐๅธธ็—‡"@ja . -:2200460 - :hasNotificationNumber "1" ; - terms:description "็ณ–ๅฐฟ็—…ใฏใ€ใ‚คใƒณใ‚นใƒชใƒณใฎๅˆ†ๆณŒไธๅ…จใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ€ใ‚ใ‚‹ใ„ใฏใใฎไธก่€…ใซใ‚ˆใ‚‹ๆ…ขๆ€ง็š„ใช้ซ˜่ก€็ณ–ใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ไปฃ่ฌ็•ฐๅธธใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฏใ€่†ตฮฒ็ดฐ่ƒžใฎ็ ดๅฃŠใซใ‚ˆใ‚‹ๅ†…ๅ› ๆ€งใ‚คใƒณใ‚นใƒชใƒณไธ่ถณใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€้€šๅธธใฏ็ตถๅฏพ็š„ใชใ‚คใƒณใ‚นใƒชใƒณๆฌ ไนใซ้™ฅใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฎๆฒป็™‚ใฎๅŸบๆœฌใฏใ€ใ‚คใƒณใ‚นใƒชใƒณ่ฃœๅ……็™‚ๆณ•ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200460" ; - terms:source ; - a owl:Class ; - rdfs:label "1ๅž‹็ณ–ๅฐฟ็—…"@ja, "Diabetes mellitus type 1"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009100 ; + + nando:hasNotificationNumber "1" ; + dcterms:description "็ณ–ๅฐฟ็—…ใฏใ€ใ‚คใƒณใ‚นใƒชใƒณใฎๅˆ†ๆณŒไธๅ…จใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใ€ใ‚ใ‚‹ใ„ใฏใใฎไธก่€…ใซใ‚ˆใ‚‹ๆ…ขๆ€ง็š„ใช้ซ˜่ก€็ณ–ใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ไปฃ่ฌ็•ฐๅธธใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฏใ€่†ตฮฒ็ดฐ่ƒžใฎ็ ดๅฃŠใซใ‚ˆใ‚‹ๅ†…ๅ› ๆ€งใ‚คใƒณใ‚นใƒชใƒณไธ่ถณใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€้€šๅธธใฏ็ตถๅฏพ็š„ใชใ‚คใƒณใ‚นใƒชใƒณๆฌ ไนใซ้™ฅใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆใ€๏ผ‘ๅž‹็ณ–ๅฐฟ็—…ใฎๆฒป็™‚ใฎๅŸบๆœฌใฏใ€ใ‚คใƒณใ‚นใƒชใƒณ่ฃœๅ……็™‚ๆณ•ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200460" ; + dcterms:source ; + a owl:Class ; + rdfs:label "1ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "1ๅž‹็ณ–ๅฐฟ็—…"@ja, "Diabetes mellitus type 1"@en ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Type 1 diabetes mellitus"@en ; + skos:closeMatch obo:MONDO_0005147 ; skos:prefLabel "1ๅž‹็ณ–ๅฐฟ็—…"@ja . -:2200461 - :hasNotificationNumber "6" ; - terms:description "ๆ—ฅๆœฌไบบๅฐๅ…2ๅž‹็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใฎ็ด„70๏ฝž80๏ผ…ใฏใ€่จบๆ–ญๆ™‚ใซ่‚ฅๆบ€ใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆˆไบบใฎ็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใงใฏใ€ใ‚ใพใ‚Š่‚ฅๆบ€ใฏ้ก•่‘—ใงใฏใชใ„ใ€‚ใคใพใ‚Šใ€่ฟ‘ๅนดใ€ๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ๅพ“ๆฅใ‹ใ‚‰ๆ—ฅๆœฌไบบใงใฟใ‚‰ใ‚Œใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใจ็—…ๅ› ใƒป็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚่‚ฅๆบ€ใ‚’ไผดใ†ๅฐๅ…2ๅž‹ใงใฏใ€ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใŒใ‚ใ‚Šใ€ใใ‚Œใซไผดใฃใฆใ‚ขใƒ‡ใ‚ฃใƒใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎๅˆ†ๆณŒ็•ฐๅธธใŒ่ตทใใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใŒ้ซ˜ใพใ‚‹ใ“ใจใŒใ€ไธป่ฆใช็—…ๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใจใใ‚Œใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใฎๅข—ๅคงใ‚’ไธญๅฟƒใจใ—ใŸไปฃ่ฌ็•ฐๅธธใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใจใ—ใฆ็พๅœจใ€ๅบƒใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่จ€ใ„ๆ›ใˆใ‚‹ใจใ€่ฟ‘ๅนดๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใ‚’ๅŸบ็คŽใซใ—ใฆ้€ฒ่กŒใ—ใŸ็ณ–ๅฐฟ็—…ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใŸใ ใ—ใ€20๏ฝž30๏ผ…ใฎๆ‚ฃ่€…ใงใฏ่‚ฅๆบ€ใ‚’ไผดใฃใฆใŠใ‚‰ใšใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใจใ„ใ†ใ‚ˆใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใฎไฝŽไธ‹ใ‚’ไธปไฝ“ใจใ™ใ‚‹็พคใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎ็พคใงใฏใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’ไฟƒใ™็ตŒๅฃ่ก€็ณ–้™ไธ‹่–ฌใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200461" ; - terms:source ; - a owl:Class ; - rdfs:label "2ๅž‹็ณ–ๅฐฟ็—…"@ja, "Diabetes mellitus type 2"@en ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007452, mondo:MONDO_0007455 ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๆ—ฅๆœฌไบบๅฐๅ…2ๅž‹็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใฎ็ด„70๏ฝž80๏ผ…ใฏใ€่จบๆ–ญๆ™‚ใซ่‚ฅๆบ€ใ‚’ไผดใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆˆไบบใฎ็ณ–ๅฐฟ็—…ๆ‚ฃ่€…ใงใฏใ€ใ‚ใพใ‚Š่‚ฅๆบ€ใฏ้ก•่‘—ใงใฏใชใ„ใ€‚ใคใพใ‚Šใ€่ฟ‘ๅนดใ€ๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ๅพ“ๆฅใ‹ใ‚‰ๆ—ฅๆœฌไบบใงใฟใ‚‰ใ‚Œใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใจ็—…ๅ› ใƒป็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ“ใจใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚่‚ฅๆบ€ใ‚’ไผดใ†ๅฐๅ…2ๅž‹ใงใฏใ€ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใŒใ‚ใ‚Šใ€ใใ‚Œใซไผดใฃใฆใ‚ขใƒ‡ใ‚ฃใƒใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎๅˆ†ๆณŒ็•ฐๅธธใŒ่ตทใใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใŒ้ซ˜ใพใ‚‹ใ“ใจใŒใ€ไธป่ฆใช็—…ๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ†…่‡“่„‚่‚ชใฎ่“„็ฉใจใใ‚Œใซไผดใ†ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใฎๅข—ๅคงใ‚’ไธญๅฟƒใจใ—ใŸไปฃ่ฌ็•ฐๅธธใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใจใ—ใฆ็พๅœจใ€ๅบƒใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่จ€ใ„ๆ›ใˆใ‚‹ใจใ€่ฟ‘ๅนดๅฐๅ…ใงๅข—ๅŠ ใ—ใฆใ„ใ‚‹2ๅž‹็ณ–ๅฐฟ็—…ใฏใ€ใƒกใ‚ฟใƒœใƒชใƒƒใ‚ฏใ‚ทใƒณใƒ‰ใƒญใƒผใƒ ใ‚’ๅŸบ็คŽใซใ—ใฆ้€ฒ่กŒใ—ใŸ็ณ–ๅฐฟ็—…ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚ใŸใ ใ—ใ€20๏ฝž30๏ผ…ใฎๆ‚ฃ่€…ใงใฏ่‚ฅๆบ€ใ‚’ไผดใฃใฆใŠใ‚‰ใšใ€ใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€งใจใ„ใ†ใ‚ˆใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใฎไฝŽไธ‹ใ‚’ไธปไฝ“ใจใ™ใ‚‹็พคใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎ็พคใงใฏใ€ใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’ไฟƒใ™็ตŒๅฃ่ก€็ณ–้™ไธ‹่–ฌใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200461" ; + dcterms:source ; + a owl:Class ; + rdfs:label "2ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "2ๅž‹็ณ–ๅฐฟ็—…"@ja, "Diabetes mellitus type 2"@en ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Type 2 Diabetes Mellitus"@en ; + skos:closeMatch obo:MONDO_0005148, obo:MONDO_0007452 ; skos:prefLabel "2ๅž‹็ณ–ๅฐฟ็—…"@ja . -:2200462 - :hasNotificationNumber "4" ; - terms:description "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… (ไปฅไธ‹MODY) ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใง็™บ็—‡ใ™ใ‚‹่‹ฅๅนด็ณ–ๅฐฟ็—…ใงใ‚ใ‚Šใ€็ณ–ไปฃ่ฌใซ้–ขใ‚ใ‚‹ๅ˜ไธ€้บไผๅญใฎๆฉŸ่ƒฝ้šœๅฎณ๏ผˆ้บไผๅญๅค‰็•ฐใ€้บไผๅญๅ…จไฝ“ ใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎๆฌ ๅคฑใชใฉใซใ‚ˆใ‚‹๏ผ‰ใŒๅŽŸๅ› ใจใชใฃใฆ็ณ–ๅฐฟ็—…ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏไปŠๆ—ฅใพใงใซ13็จฎ้กžใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅŽŸๅ› ไธๆ˜ŽใฎMODYXใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200462" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—… (ไปฅไธ‹MODY) ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใง็™บ็—‡ใ™ใ‚‹่‹ฅๅนด็ณ–ๅฐฟ็—…ใงใ‚ใ‚Šใ€็ณ–ไปฃ่ฌใซ้–ขใ‚ใ‚‹ๅ˜ไธ€้บไผๅญใฎๆฉŸ่ƒฝ้šœๅฎณ๏ผˆ้บไผๅญๅค‰็•ฐใ€้บไผๅญๅ…จไฝ“ ใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎๆฌ ๅคฑใชใฉใซใ‚ˆใ‚‹๏ผ‰ใŒๅŽŸๅ› ใจใชใฃใฆ็ณ–ๅฐฟ็—…ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏไปŠๆ—ฅใพใงใซ13็จฎ้กžใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€ๅŽŸๅ› ไธๆ˜ŽใฎMODYXใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200462" ; + dcterms:source ; a owl:Class ; - rdfs:label "maturity-onset diabetes of the young"@en, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…"@ja ; + rdfs:label "Maturity-onset diabetes of the young"@en, "ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "MODY"@en, "MODY"@ja ; - skos:closeMatch mondo:MONDO_0018911 ; + skos:closeMatch obo:MONDO_0018911 ; skos:prefLabel "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…"@ja . -:2200463 - :hasNotificationNumber "5" ; - terms:description "ใ€Œๆ–ฐ็”Ÿๅ…ใ€ใฏ็”ŸๅพŒ1ใ‹ๆœˆไปฅๅ†…ใ‚’ๆŒ‡ใ™ใŒใ€ใ€Œๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใฏไธ€่ˆฌใซ็”ŸๅพŒ6ใ‹ๆœˆๆœชๆบ€ใซ็™บ็—‡ใ—ใŸ็ณ–ๅฐฟ็—…ใจใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งใฎใ‚‚ใฎใฏๅฐ‘ใชใใ€ๅคšใใฏ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚็”ŸๅพŒ18ใ‹ๆœˆใพใงใซๆฒป็™’ใ™ใ‚‹ไธ€้Žๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใจใ€ไปฅๅพŒใ‚‚ๆŒ็ถšใ™ใ‚‹ๆฐธ็ถšๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200463" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ใ€Œๆ–ฐ็”Ÿๅ…ใ€ใฏ็”ŸๅพŒ1ใ‹ๆœˆไปฅๅ†…ใ‚’ๆŒ‡ใ™ใŒใ€ใ€Œๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใฏไธ€่ˆฌใซ็”ŸๅพŒ6ใ‹ๆœˆๆœชๆบ€ใซ็™บ็—‡ใ—ใŸ็ณ–ๅฐฟ็—…ใจใ•ใ‚Œใ‚‹ใ€‚่‡ชๅทฑๅ…็–ซๆ€งใฎใ‚‚ใฎใฏๅฐ‘ใชใใ€ๅคšใใฏ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚็”ŸๅพŒ18ใ‹ๆœˆใพใงใซๆฒป็™’ใ™ใ‚‹ไธ€้Žๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใจใ€ไปฅๅพŒใ‚‚ๆŒ็ถšใ™ใ‚‹ๆฐธ็ถšๆ€งๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200463" ; + dcterms:source ; a owl:Class ; - rdfs:label "neonatal diabetes mellitus"@en, "ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…"@ja ; + rdfs:label "Neonatal diabetes mellitus"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016391 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016391 ; skos:prefLabel "ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…"@ja . -:2200464 - :hasNotificationNumber "2" ; - terms:description "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“ๆฉŸ่ƒฝใซ็•ฐๅธธใŒใ‚ใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒๆญฃๅธธใซ่กŒใ‚ใ‚Œใชใ„็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚"@ja ; - terms:identifier "2200464" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“ๆฉŸ่ƒฝใซ็•ฐๅธธใŒใ‚ใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒๆญฃๅธธใซ่กŒใ‚ใ‚Œใชใ„็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200464" ; + dcterms:source ; a owl:Class ; - rdfs:label "insulin receptor abnormality"@en, "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja ; + rdfs:label "Insulin receptor abnormality"@en, "ใ„ใ‚“ใ™ใ‚Šใ‚“ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja . -:2200465 - :hasNotificationNumber "3" ; - terms:description "่„‚่‚ช่Ž็ธฎ็—‡ใฏใ€ๅ…จ่บซใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†็š„ใซ่„‚่‚ช็ต„็น”ใŒๆธ›ๅฐ‘ใ€ใ‚ใ‚‹ใ„ใฏๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ซ˜้ ปๅบฆใซใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใƒ‰่ก€็—‡ใ€่„‚่‚ช่‚็ญ‰ใฎ็ณ–่„‚่ณชไปฃ่ฌ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200465" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "่„‚่‚ช่Ž็ธฎ็—‡ใฏใ€ๅ…จ่บซใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†็š„ใซ่„‚่‚ช็ต„็น”ใŒๆธ›ๅฐ‘ใ€ใ‚ใ‚‹ใ„ใฏๆถˆๅคฑใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ซ˜้ ปๅบฆใซใ‚คใƒณใ‚นใƒชใƒณๆŠตๆŠ—ๆ€ง็ณ–ๅฐฟ็—…ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใƒ‰่ก€็—‡ใ€่„‚่‚ช่‚็ญ‰ใฎ็ณ–่„‚่ณชไปฃ่ฌ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200465" ; + dcterms:source ; a owl:Class ; - rdfs:label "lipoatrophic diabetes"@en, "่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005827, mondo:MONDO_0007906, mondo:MONDO_0018883 ; + rdfs:label "Lipoatrophic diabetes"@en, "ใ—ใผใ†ใ„ใ—ใ‚…ใใ›ใ„ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005827, obo:MONDO_0018883 ; skos:prefLabel "่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…"@ja . -:2200466 - :hasNotificationNumber "7" ; - terms:description "็ณ–ๅฐฟ็—…ใฏใ€ๆ…ขๆ€ง็š„ใซ้ซ˜่ก€็ณ–ใ‚’ใใŸใ™็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚1ใ‹ใ‚‰6ใพใงใซ1ๅž‹ใ€2ๅž‹ใ€่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆMODY๏ผ‰ใ€ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ใ€่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€ใŒๆŒ™ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎ็ณ–ๅฐฟ็—…ใจใ—ใฆใ€่†ตๅค–ๅˆ†ๆณŒ็–พๆ‚ฃใ€ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ€่–ฌๅ‰คใ‚„ๅŒ–ๅญฆ็‰ฉ่ณชใซใ‚ˆใ‚‹ใ‚‚ใฎใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚‹ใพใ‚Œใช็—…ๆ…‹ใ€ใใฎไป–ใฎ้บไผ็š„็—‡ๅ€™็พคใง็ณ–ๅฐฟ็—…ใ‚’ไผดใ†ใ“ใจใฎๅคšใ„ใ‚‚ใฎใ€ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200466" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "็ณ–ๅฐฟ็—…ใฏใ€ๆ…ขๆ€ง็š„ใซ้ซ˜่ก€็ณ–ใ‚’ใใŸใ™็—…ๆฐ—ใงใ‚ใ‚‹ใ€‚1ใ‹ใ‚‰6ใพใงใซ1ๅž‹ใ€2ๅž‹ใ€่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆMODY๏ผ‰ใ€ๆ–ฐ็”Ÿๅ…็ณ–ๅฐฟ็—…ใ€ใ‚คใƒณใ‚นใƒชใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡ใ€่„‚่‚ช่Ž็ธฎๆ€ง็ณ–ๅฐฟ็—…ใ€ใŒๆŒ™ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎไป–ใฎ็ณ–ๅฐฟ็—…ใจใ—ใฆใ€่†ตๅค–ๅˆ†ๆณŒ็–พๆ‚ฃใ€ๅ†…ๅˆ†ๆณŒ็–พๆ‚ฃใ€่–ฌๅ‰คใ‚„ๅŒ–ๅญฆ็‰ฉ่ณชใซใ‚ˆใ‚‹ใ‚‚ใฎใ€ๆ„ŸๆŸ“็—‡ใ€ๅ…็–ซๆฉŸๅบใซใ‚ˆใ‚‹ใพใ‚Œใช็—…ๆ…‹ใ€ใใฎไป–ใฎ้บไผ็š„็—‡ๅ€™็พคใง็ณ–ๅฐฟ็—…ใ‚’ไผดใ†ใ“ใจใฎๅคšใ„ใ‚‚ใฎใ€ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200466" ; + dcterms:source ; a owl:Class ; - rdfs:label "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—…"@ja, "Other diabetes mellitus"@en ; + rdfs:label "1ใ‹ใ‚‰6ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†"@ja-Hira, "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—…"@ja, "Other diabetes mellitus"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "1ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–ๅฐฟ็—…"@ja . -:2200467 - :hasNotificationNumber "17" ; - terms:description "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆHPA๏ผ‰ใฏใ€L-ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ‚’L-ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ™ใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–ๅๅฟœใฎ็•ฐๅธธใซใ‚ˆใ‚Š่ก€ๆผฟไธญPheๅ€คใŒ2mg/dlใ‚’่ถŠใˆใ‚‹็Šถๆ…‹ใงใ€ใใฎๅŽŸๅ› ใซใ‚ˆใ‚Šใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใฎ็•ฐๅธธใจใใฎ่ฃœ้…ต็ด ใฎใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎไปฃ่ฌ็•ฐๅธธใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผˆBH4ๆฌ ๆ็—‡ใฏๅˆฅ้ …ๅ‚็…ง๏ผ‰ใ€‚PKUใฏใ€่จบๆ–ญๆ™‚ใฎ่ก€ๆผฟไธญPheๅ€คใซใ‚ˆใ‚Šๅคๅ…ธ็š„PKU๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใ€่ปฝ็—‡PKU๏ผˆ10mg/dlไปฅไธŠ20mg/dl ๆœชๆบ€๏ผ‰ใ€่ปฝ็—‡HPA๏ผˆ10mg/dlๆœชๆบ€๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚BH4ๅๅฟœๆ€งPAHๆฌ ๆ็—‡ใฏใ€PKUใจๅŒใ˜PAHใฎ็•ฐๅธธใงใ‚ใ‚‹ใŒ่ฃœ้…ต็ด BH4ใซๅๅฟœใ—ใฆ่ก€ไธญPheๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚BH4ๅๅฟœๆ€งPKU ใ‚„BH4ๅๅฟœๆ€งHPAใจใ‚ˆใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200467" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆHPA๏ผ‰ใฏใ€L-ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ‚’L-ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใซๅค‰ๆ›ใ™ใ‚‹ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–ๅๅฟœใฎ็•ฐๅธธใซใ‚ˆใ‚Š่ก€ๆผฟไธญPheๅ€คใŒ2mg/dlใ‚’่ถŠใˆใ‚‹็Šถๆ…‹ใงใ€ใใฎๅŽŸๅ› ใซใ‚ˆใ‚Šใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆPAH๏ผ‰ใฎ็•ฐๅธธใจใใฎ่ฃœ้…ต็ด ใฎใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎไปฃ่ฌ็•ฐๅธธใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผˆBH4ๆฌ ๆ็—‡ใฏๅˆฅ้ …ๅ‚็…ง๏ผ‰ใ€‚PKUใฏใ€่จบๆ–ญๆ™‚ใฎ่ก€ๆผฟไธญPheๅ€คใซใ‚ˆใ‚Šๅคๅ…ธ็š„PKU๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใ€่ปฝ็—‡PKU๏ผˆ10mg/dlไปฅไธŠ20mg/dl ๆœชๆบ€๏ผ‰ใ€่ปฝ็—‡HPA๏ผˆ10mg/dlๆœชๆบ€๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚BH4ๅๅฟœๆ€งPAHๆฌ ๆ็—‡ใฏใ€PKUใจๅŒใ˜PAHใฎ็•ฐๅธธใงใ‚ใ‚‹ใŒ่ฃœ้…ต็ด BH4ใซๅๅฟœใ—ใฆ่ก€ไธญPheๅ€คใŒไฝŽไธ‹ใ™ใ‚‹ใŸใ‚BH4ๅๅฟœๆ€งPKU ใ‚„BH4ๅๅฟœๆ€งHPAใจใ‚ˆใฐใ‚Œใฆใ„ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200467" ; + dcterms:source ; a owl:Class ; - rdfs:label "Phenylketonuria"@en, "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Phenylketonuria"@en, "ใตใ‡ใซใ‚‹ใ‘ใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "HPA"@en, "Hyperphenylalaninemia"@en, "PKU"@en, "้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009861, mondo:MONDO_0016543 ; + skos:closeMatch obo:MONDO_0009861 ; skos:prefLabel "ใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡"@ja . -:2200468 - :hasNotificationNumber "8" ; - terms:description "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸ ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณ ใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€ IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃ ๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200468" ; - terms:source ; - a owl:Class ; - rdfs:label "Tyrosinemia type 1"@en, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010161 ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸ ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณ ใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€ IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃ ๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200468" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tyrosinemia type 1"@en, "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Tyrosinaemia type 1"@en ; + skos:closeMatch obo:MONDO_0010161 ; skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ‘ๅž‹"@ja . -:2200469 - :hasNotificationNumber "9" ; - terms:description "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญ ใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒ ใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€II ๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒ ไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃ ใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200469" ; - terms:source ; - a owl:Class ; - rdfs:label "Tyrosinemia type 2"@en, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010160 ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญ ใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒ ใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€II ๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒ ไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃ ใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200469" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tyrosinemia type 2"@en, "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Tyrosinaemia type 2"@en ; + skos:closeMatch obo:MONDO_0010160 ; skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ’ๅž‹"@ja . -:2200470 - :hasNotificationNumber "10" ; - terms:description "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200470" ; - terms:source ; - a owl:Class ; - rdfs:label "Tyrosinemia type 3"@en, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010162 ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ใƒใƒญใ‚ทใƒณใฏ้ฃŸไบ‹ใซๅซใพใ‚Œใ‚‹ใ‚ขใƒŸใƒŽ้…ธใฎไธ€ใคใจใ—ใฆใ€ใพใŸใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใจใ—ใฆๅพ—ใ‚‰ใ‚Œใ‚‹ใ€‚็”Ÿไฝ“ๅ†…ใงใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒใƒญใ‚ทใƒณใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใƒใƒญใ‚ทใƒณใฏใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใซใ‚ˆใฃใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ€็ถšใ„ใฆ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ้…ธๅŒ–้…ต็ด ใซใ‚ˆใฃใฆใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ€ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผใซใ‚ˆใฃใฆใƒ•ใƒžใƒซ้…ธใจใ‚ขใ‚ปใƒˆ้…ข้…ธใซๅˆ†่งฃใ•ใ‚Œใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡ใฏใ€Iๅž‹ใ€IIๅž‹ใ€IIIๅž‹ใฎ3ใคใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ็–พๆ‚ฃใฏใ€้บไผ็š„ใƒป้…ต็ด ๅญฆ็š„ใซๅˆฅใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€่‡จๅบŠ็—‡็Šถๅ‡บ็พใฎๆฉŸๅบใ‚‚็•ฐใชใ‚‹ใ€‚้บไผๅฝขๅผใฏใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡Iๅž‹ใฏใƒ•ใƒžใƒชใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใƒ’ใƒ‰ใƒฉใƒผใ‚ผใŒๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIๅž‹ใฏ็ดฐ่ƒž่ณชใƒใƒญใ‚ทใƒณใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆใ€้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡IIIๅž‹ใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ•ใ‚งใƒ‹ใƒซใƒ”ใƒซใƒ“ใƒณ้…ธ้…ธๅŒ–้…ต็ด ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200470" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tyrosinemia type 3"@en, "ใ“ใ†ใกใ‚ใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Tyrosinaemia type 3"@en ; + skos:closeMatch obo:MONDO_0010162 ; skos:prefLabel "้ซ˜ใƒใƒญใ‚ทใƒณ่ก€็—‡๏ผ“ๅž‹"@ja . -:2200471 - :hasNotificationNumber "11" ; - terms:description "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ใฏ1ๅž‹ใจ2ๅž‹ใฎ2ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1ๅž‹ใฏใƒ—ใƒญใƒชใƒณ้…ธๅŒ–้…ต็ด ใฎ็•ฐๅธธใ€2ๅž‹ใฏP5C (pyrroline-5-carboxylic acid)่„ฑๆฐด็ด ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚Šใ€่ก€ไธญใฎใƒ—ใƒญใƒชใƒณใŒไธŠๆ˜‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200471" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡ใฏ1ๅž‹ใจ2ๅž‹ใฎ2ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚1ๅž‹ใฏใƒ—ใƒญใƒชใƒณ้…ธๅŒ–้…ต็ด ใฎ็•ฐๅธธใ€2ๅž‹ใฏP5C (pyrroline-5-carboxylic acid)่„ฑๆฐด็ด ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€งใงใ‚ใ‚Šใ€่ก€ไธญใฎใƒ—ใƒญใƒชใƒณใŒไธŠๆ˜‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200471" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyperprolinemia"@en, "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡"@ja ; + rdfs:label "Hyperprolinemia"@en, "ใ“ใ†ใทใ‚ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0023419 ; + rdfs:subClassOf ; + skos:altLabel "Hyperprolinaemia"@en ; + skos:closeMatch obo:MONDO_0023419 ; skos:prefLabel "้ซ˜ใƒ—ใƒญใƒชใƒณ่ก€็—‡"@ja . -:2200472 - :hasNotificationNumber "18" ; - terms:description "ใƒšใƒ—ใƒใƒ‰ใฎๅŠ ๆฐดๅˆ†่งฃใซใŠใ„ใฆใ€Cๆœซ็ซฏใซใƒ—ใƒญใƒชใƒณใ€ใพใŸใฏใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‚’ๆœ‰ใ™ใ‚‹ใ‚ธใƒšใƒ—ใƒใƒ‰ใ€ใ‚ชใƒชใ‚ดใƒšใƒ—ใƒใƒ‰ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200472" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "ใƒšใƒ—ใƒใƒ‰ใฎๅŠ ๆฐดๅˆ†่งฃใซใŠใ„ใฆใ€Cๆœซ็ซฏใซใƒ—ใƒญใƒชใƒณใ€ใพใŸใฏใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‚’ๆœ‰ใ™ใ‚‹ใ‚ธใƒšใƒ—ใƒใƒ‰ใ€ใ‚ชใƒชใ‚ดใƒšใƒ—ใƒใƒ‰ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200472" ; + dcterms:source ; a owl:Class ; - rdfs:label "Prolidase deficiency"@en, "ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Prolidase deficiency"@en, "ใทใ‚ใ‚Šใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Hyperimidodipeptiduria"@en ; - skos:closeMatch mondo:MONDO_0008221 ; + skos:closeMatch obo:MONDO_0008221 ; skos:prefLabel "ใƒ—ใƒญใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200473 - :hasNotificationNumber "20" ; - terms:description "ๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใ€ใƒใƒชใƒณใฎไปฃ่ฌใซ็”ฑๆฅใ™ใ‚‹ฮฑ-ใ‚ฑใƒˆ้…ธใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่กŒใ†ใ€ๅˆ†ๆž้Ž–ฮฑ-ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็”Ÿ้ ปๅบฆใฏ็ด„50ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆไธญๆžข็ฅž็ตŒ้šœๅฎณใจใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’่ชใ‚ใ‚‹ใ€‚็”ŸๅพŒ1-2้€ฑ้–“ใง็™บ็—‡ใ™ใ‚‹ๅคๅ…ธๅž‹ใจใ€่‡จๅบŠ็—‡็ŠถใŒใ‚„ใ‚„่ปฝๅบฆใชไธญ้–“ๅž‹ใ€้€šๅธธใฏ็„ก็—‡็Šถใงๆ€ฅๆ€งๅข—ๆ‚ชใ‚’่ตทใ“ใ™้–“ๆฌ ๅž‹ใชใฉใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200473" ; - terms:source ; - a owl:Class ; - rdfs:label "maple syrup urine disease"@en, "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009563 ; + + nando:hasNotificationNumber "20" ; + dcterms:description "ๅˆ†ๆž้Ž–ใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒญใ‚คใ‚ทใƒณใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใ€ใƒใƒชใƒณใฎไปฃ่ฌใซ็”ฑๆฅใ™ใ‚‹ฮฑ-ใ‚ฑใƒˆ้…ธใฎ้…ธๅŒ–็š„่„ฑ็‚ญ้…ธๅๅฟœใ‚’่กŒใ†ใ€ๅˆ†ๆž้Ž–ฮฑ-ใ‚ฑใƒˆ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆBCKDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ใŒๅ›ฝใซใŠใ‘ใ‚‹็™บ็”Ÿ้ ปๅบฆใฏ็ด„50ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใจใ—ใฆไธญๆžข็ฅž็ตŒ้šœๅฎณใจใ‚ฑใƒˆใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’่ชใ‚ใ‚‹ใ€‚็”ŸๅพŒ1-2้€ฑ้–“ใง็™บ็—‡ใ™ใ‚‹ๅคๅ…ธๅž‹ใจใ€่‡จๅบŠ็—‡็ŠถใŒใ‚„ใ‚„่ปฝๅบฆใชไธญ้–“ๅž‹ใ€้€šๅธธใฏ็„ก็—‡็Šถใงๆ€ฅๆ€งๅข—ๆ‚ชใ‚’่ตทใ“ใ™้–“ๆฌ ๅž‹ใชใฉใฎ็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200473" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Maple syrup urine disease"@en, "ใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MSUD"@en ; + skos:closeMatch obo:MONDO_0009563 ; skos:prefLabel "ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja . -:2200474 - :hasNotificationNumber "19" ; - terms:description "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใƒกใƒใ‚ชใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใŒ่ก€ไธญใซ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใฎ้‡ๅˆไฝ“ใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณใŒๅฐฟไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚็‹ญ็พฉใฎใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใ‚ทใ‚นใ‚ฟใƒใ‚ชใƒ‹ใƒณฮฒๅˆๆˆ้…ต็ด (CBS)ๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใ“ใ‚Œใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200474" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใƒกใƒใ‚ชใƒ‹ใƒณใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใŒ่ก€ไธญใซ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ›ใƒขใ‚ทใ‚นใƒ†ใ‚คใƒณใฎ้‡ๅˆไฝ“ใงใ‚ใ‚‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณใŒๅฐฟไธญใซๆคœๅ‡บใ•ใ‚Œใ‚‹ใ€‚็‹ญ็พฉใฎใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡ใฏใ‚ทใ‚นใ‚ฟใƒใ‚ชใƒ‹ใƒณฮฒๅˆๆˆ้…ต็ด (CBS)ๆฌ ๆ็—‡ใ‚’ๆŒ‡ใ™ใ€‚ใ“ใ‚Œใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200474" ; + dcterms:source ; a owl:Class ; - rdfs:label "Homocystinuria"@en, "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0004737 ; + rdfs:label "Homocystinuria"@en, "ใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0004737 ; skos:prefLabel "ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja . -:2200475 - :hasNotificationNumber "12" ; - terms:description "ใƒกใƒใ‚ชใƒ‹ใƒณใ‚ขใƒ‡ใƒŽใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๆŒ็ถšๆ€งใฎ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๅ˜็‹ฌใฎไธŠๆ˜‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ(AD)ใ™ใ‚‹็—…ๅž‹ใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๆฟƒๅบฆใŒ10mg/dlไปฅไธ‹ใงใ‚ใ‚Š่‡จๅบŠ็š„ใซ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ(AR)ใ™ใ‚‹็—…ๅž‹ใงใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณใฎ้ซ˜ๅ€ค๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใŒๆŒ็ถšใ—่„ฑ้ซ„ใ‚’ไผดใ†ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹1)"@ja ; - terms:identifier "2200475" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ใƒกใƒใ‚ชใƒ‹ใƒณใ‚ขใƒ‡ใƒŽใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๆŒ็ถšๆ€งใฎ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๅ˜็‹ฌใฎไธŠๆ˜‡ใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ(AD)ใ™ใ‚‹็—…ๅž‹ใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณๆฟƒๅบฆใŒ10mg/dlไปฅไธ‹ใงใ‚ใ‚Š่‡จๅบŠ็š„ใซ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ(AR)ใ™ใ‚‹็—…ๅž‹ใงใฏ่ก€ไธญใƒกใƒใ‚ชใƒ‹ใƒณใฎ้ซ˜ๅ€ค๏ผˆ20mg/dlไปฅไธŠ๏ผ‰ใŒๆŒ็ถšใ—่„ฑ้ซ„ใ‚’ไผดใ†ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹1)"@ja ; + dcterms:identifier "NANDO:2200475" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypermethioninemia"@en, "้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡"@ja ; + rdfs:label "Hypermethioninemia"@en, "ใ“ใ†ใ‚ใกใŠใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000351 ; + rdfs:subClassOf ; + skos:altLabel "Hypermethioninaemia"@en ; + skos:closeMatch obo:MONDO_0000351 ; skos:prefLabel "้ซ˜ใƒกใƒใ‚ชใƒ‹ใƒณ่ก€็—‡"@ja . -:2200476 - :hasNotificationNumber "16" ; - terms:description "ไธญๆžข็ฅž็ตŒ็ณปใ€่‚่‡“ใ€่…Ž่‡“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅˆ†ๅธƒใ™ใ‚‹ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎ้บไผ็š„ใชๆฌ ๆใฎใŸใ‚ใซใ€่ก€ๆผฟใ‚„้ซ„ๆถฒใชใฉใฎไฝ“ๆถฒไธญใซๅคง้‡ใฎใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ทใƒณใฏไธญๆžข็ฅž็ตŒ็ณปใง็ฅž็ตŒไผ้”็‰ฉ่ณชใจใ—ใฆๅƒใใŸใ‚ใ€ใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใง้‡็ฏคใช็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚"@ja ; - terms:identifier "2200476" ; - terms:source ; - a owl:Class ; - rdfs:label "Nonketotic hyperglycinaemia"@en, "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็ณปใ€่‚่‡“ใ€่…Ž่‡“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅˆ†ๅธƒใ™ใ‚‹ใ‚ฐใƒชใ‚ทใƒณ้–‹่ฃ‚้…ต็ด ็ณปใฎ้บไผ็š„ใชๆฌ ๆใฎใŸใ‚ใซใ€่ก€ๆผฟใ‚„้ซ„ๆถฒใชใฉใฎไฝ“ๆถฒไธญใซๅคง้‡ใฎใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ๅ…ˆๅคฉๆ€งใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ทใƒณใฏไธญๆžข็ฅž็ตŒ็ณปใง็ฅž็ตŒไผ้”็‰ฉ่ณชใจใ—ใฆๅƒใใŸใ‚ใ€ใ‚ฐใƒชใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใง้‡็ฏคใช็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200476" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nonketotic hyperglycinemia"@en, "ใฒใ‘ใจใƒผใ—ใ™ใŒใŸใ“ใ†ใใ‚Šใ—ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "NKH"@en, "Nonketotic hyperglycinaemia"@en ; + skos:closeMatch obo:MONDO_0011612 ; skos:prefLabel "้žใ‚ฑใƒˆใƒผใ‚ทใ‚นๅž‹้ซ˜ใ‚ฐใƒชใ‚ทใƒณ่ก€็—‡"@ja . -:2200477 - :hasNotificationNumber "3" ; - terms:description "ใ‚ขใƒณใƒขใƒ‹ใ‚ขใฏ่‚่‡“ใซใŠใ„ใฆๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใ‚’็ตŒใฆใ€็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎๅๅฟœใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1 (CPS1)ใงใ‚ใ‚‹ใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ(NAG)ใฏใ€CPS1ใฎๆดปๆ€งๅŒ–ใซๅƒใใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด (NAGS)ๆฌ ๆ็—‡ใงใฏใ€NAGใฎๅˆๆˆไฝŽไธ‹ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200477" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "ใ‚ขใƒณใƒขใƒ‹ใ‚ขใฏ่‚่‡“ใซใŠใ„ใฆๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใ‚’็ตŒใฆใ€็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎๅๅฟœใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1 (CPS1)ใงใ‚ใ‚‹ใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ(NAG)ใฏใ€CPS1ใฎๆดปๆ€งๅŒ–ใซๅƒใใ€‚N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด (NAGS)ๆฌ ๆ็—‡ใงใฏใ€NAGใฎๅˆๆˆไฝŽไธ‹ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200477" ; + dcterms:source ; a owl:Class ; - rdfs:label "N-acetylglutamate synthetase deficiency"@en, "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "N-acetylglutamate synthetase deficiency"@en, "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja, "ใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009377 ; + rdfs:subClassOf ; + skos:altLabel "NAGS deficiency"@en ; + skos:closeMatch obo:MONDO_0009377 ; skos:prefLabel "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200478 - :hasNotificationNumber "5" ; - terms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎใ‚นใƒ†ใƒƒใƒ—ใงใ‚ใ‚‹ใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ใฎใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1(CPS1)ใงใ‚ใ‚‹ใ€‚CPS1ๆฌ ๆ็—‡ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200478" ; - terms:source ; - a owl:Class ; - rdfs:label "Carbamoylphosphate synthetase deficiency"@en, "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€ๅˆใฎใ‚นใƒ†ใƒƒใƒ—ใงใ‚ใ‚‹ใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‹ใ‚‰ใฎใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด 1(CPS1)ใงใ‚ใ‚‹ใ€‚CPS1ๆฌ ๆ็—‡ใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200478" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carbamoylphosphate synthetase deficiency"@en, "ใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Carbamyl phosphate synthetase deficiency"@en ; + skos:closeMatch obo:MONDO_0009376 ; skos:prefLabel "ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200479 - :hasNotificationNumber "4" ; - terms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไบŒๆฎต้šŽ็›ฎใฎๅๅฟœ๏ผˆใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธใจใ‚ชใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ทใƒˆใƒซใƒชใƒณใ‚’ๅˆๆˆ๏ผ‰ใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผ(OTC)ใงใ‚ใ‚‹ใ€‚OTCๆฌ ๆ็—‡ใฏๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฎไธญใงใฏๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ€‚X้€ฃ้Ž–ๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅฅณๆ€งใงใ‚‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใฎ็จ‹ๅบฆใซใ‚ˆใฃใฆๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰็„ก็—‡็Šถไพ‹ใพใงๆง˜ใ€…ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200479" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไบŒๆฎต้šŽ็›ฎใฎๅๅฟœ๏ผˆใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธใจใ‚ชใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ทใƒˆใƒซใƒชใƒณใ‚’ๅˆๆˆ๏ผ‰ใ‚’ๅธใ‚‹้…ต็ด ใŒใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผ(OTC)ใงใ‚ใ‚‹ใ€‚OTCๆฌ ๆ็—‡ใฏๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซ็•ฐๅธธ็—‡ใฎไธญใงใฏๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใ€‚X้€ฃ้Ž–ๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ๅฅณๆ€งใงใ‚‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใฎ็จ‹ๅบฆใซใ‚ˆใฃใฆๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ใ‹ใ‚‰็„ก็—‡็Šถไพ‹ใพใงๆง˜ใ€…ใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200479" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ornitine transcarbamylase deficiency"@en, "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Ornithine transcarbamylase deficiency"@en, "ใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010703 ; skos:prefLabel "ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200480 - :hasNotificationNumber "1" ; - terms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไธ‰ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด (ASS)ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒซใƒชใƒณใจใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‹ใ‚‰ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ๅˆๆˆใ™ใ‚‹ใ€‚ASSๆฌ ๆ็—‡ใงใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใจใจใ‚‚ใซใ€่ก€ไธญใ‚ทใƒˆใƒซใƒชใƒณใŒ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹(CTLN1)ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200480" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎไธ‰ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด (ASS)ใงใ‚ใ‚Šใ€ใ‚ทใƒˆใƒซใƒชใƒณใจใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใ‹ใ‚‰ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ๅˆๆˆใ™ใ‚‹ใ€‚ASSๆฌ ๆ็—‡ใงใฏ้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใจใจใ‚‚ใซใ€่ก€ไธญใ‚ทใƒˆใƒซใƒชใƒณใŒ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹(CTLN1)ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200480" ; + dcterms:source ; a owl:Class ; - rdfs:label "Argininosuccinate synthetase deficiency"@en, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Argininosuccinate synthetase deficiency"@en, "ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Citrullinaemia type 1"@en, "ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡"@ja ; - skos:closeMatch mondo:MONDO_0008988 ; + rdfs:subClassOf ; + skos:altLabel "CTLN1"@en, "CTLN1"@ja, "Citrullinaemia type 1"@en, "Citrullinemia Type 1"@en, "Type I citrullinaemia"@en, "ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡Iๅž‹"@ja ; + skos:closeMatch obo:MONDO_0008988 ; skos:prefLabel "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200481 - :hasNotificationNumber "2" ; - terms:description "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡(ASA)ใฏใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆ†่งฃ้…ต็ด (AL)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๅ››ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒALใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใจใƒ•ใƒžใƒซ้…ธใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200481" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡(ASA)ใฏใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆ†่งฃ้…ต็ด (AL)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๅ››ๆฎต้šŽ็›ฎใฎ้…ต็ด ใŒALใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธใ‚’ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใจใƒ•ใƒžใƒซ้…ธใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200481" ; + dcterms:source ; a owl:Class ; - rdfs:label "Argininosuccinic aciduria"@en, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008815 ; + rdfs:label "Argininosuccinic aciduria"@en, "ใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008815 ; skos:prefLabel "ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja . -:2200482 - :hasNotificationNumber "6" ; - terms:description "่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‚’็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ™ใ‚‹ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€็ต‚ๆฎต้šŽใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ‚’ๅฐฟ็ด ใจใ‚ชใƒซใƒ‹ใƒใƒณใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใฎ้šœๅฎณใซใ‚ˆใ‚Š่ก€ไธญใƒปๅฐฟไธญใซใ‚ขใƒซใ‚ฎใƒ‹ใƒณไธŠๆ˜‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200482" ; - terms:source ; - a owl:Class ; - rdfs:label "Hyperarginemia"@en, "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "6" ; + dcterms:description "่‚่‡“ใซใŠใ„ใฆใ‚ขใƒณใƒขใƒ‹ใ‚ขใ‚’็„กๅฎณใชๅฐฟ็ด ใซไปฃ่ฌใ™ใ‚‹ๅฐฟ็ด ใ‚ตใ‚คใ‚ฏใƒซใฎๆœ€็ต‚ๆฎต้šŽใฎ้…ต็ด ใŒใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ‚’ๅฐฟ็ด ใจใ‚ชใƒซใƒ‹ใƒใƒณใธใจๅˆ†่งฃใ™ใ‚‹ใ€‚้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ขใƒซใ‚ฎใƒŠใƒผใ‚ผ1ใฎ้šœๅฎณใซใ‚ˆใ‚Š่ก€ไธญใƒปๅฐฟไธญใซใ‚ขใƒซใ‚ฎใƒ‹ใƒณไธŠๆ˜‡ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200482" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hyperargininemia"@en, "ใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Hyperargininaemia"@en ; + skos:closeMatch obo:MONDO_0008814 ; skos:prefLabel "้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja . -:2200483 - :hasNotificationNumber "14" ; - terms:description "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใซใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ทใƒˆใƒชใƒณๆฌ ๆใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผˆneonatal intrahepatic cholestasis caused by citin deficiency: NICCD๏ผ‰ใจๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆadult-onset type 2 citrullinemia: CTLN2๏ผ‰ใฎ2ใคใฎๅนด้ฝขไพๅญ˜ๆ€งใฎ่‡จๅบŠๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹1)2)ใ€‚ใ“ใฎ้–“ใซใ€Œ่ฆ‹ใ‹ใ‘ไธŠๅฅๅบทใ€ใช้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใŒใ‚ใ‚‹ใ€‚ใ“ใฎๆ™‚ๆœŸใฎ็—…ๆ…‹ใƒป็—…ๅž‹ใ‚’FTTDCD (Failure to thrive and dyslipidemia caused by citrin deficiency)ใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹3)ใ€‚"@ja ; - terms:identifier "2200483" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡ใซใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ทใƒˆใƒชใƒณๆฌ ๆใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡๏ผˆneonatal intrahepatic cholestasis caused by citin deficiency: NICCD๏ผ‰ใจๆ€ๆ˜ฅๆœŸไปฅ้™ใซ็™บ็—‡ใ™ใ‚‹ๆˆไบบ็™บ็—‡โ…กๅž‹ใ‚ทใƒˆใƒซใƒชใƒณ่ก€็—‡๏ผˆadult-onset type 2 citrullinemia: CTLN2๏ผ‰ใฎ2ใคใฎๅนด้ฝขไพๅญ˜ๆ€งใฎ่‡จๅบŠๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹1)2)ใ€‚ใ“ใฎ้–“ใซใ€Œ่ฆ‹ใ‹ใ‘ไธŠๅฅๅบทใ€ใช้ฉๅฟœใƒปไปฃๅ„ŸๆœŸใŒใ‚ใ‚‹ใ€‚ใ“ใฎๆ™‚ๆœŸใฎ็—…ๆ…‹ใƒป็—…ๅž‹ใ‚’FTTDCD (Failure to thrive and dyslipidemia caused by citrin deficiency)ใจๅ‘ผใถๅ ดๅˆใ‚‚ใ‚ใ‚‹3)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200483" ; + dcterms:source ; a owl:Class ; - rdfs:label "Citrin deficiency"@en, "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011326, mondo:MONDO_0016602 ; + rdfs:label "Citrin deficiency"@en, "ใ—ใจใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016602 ; skos:prefLabel "ใ‚ทใƒˆใƒชใƒณๆฌ ๆ็—‡"@ja . -:2200484 - :hasNotificationNumber "7" ; - terms:identifier "2200484" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:identifier "NANDO:2200484" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyperornithinemia"@en, "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡"@ja ; + rdfs:label "Hyperornithinemia"@en, "ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "HHH"@en ; - skos:closeMatch mondo:MONDO_0009393, mondo:MONDO_0009796 ; + rdfs:subClassOf ; + skos:altLabel "Hyperornithinaemia"@en ; + skos:closeMatch obo:MONDO_0009796 ; skos:prefLabel "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡"@ja . -:2200485 - :hasNotificationNumber "7" ; - terms:description "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ HHH็—‡ๅ€™็พค๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅฑ€ๅœจใ™ใ‚‹ใ‚ชใƒซใƒ‹ใƒใƒณ่ผธ้€่›‹็™ฝ๏ผˆORNT1๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผ“ใคใฎๅพดๅ€™๏ผˆ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผ‰ใฎ้ ญๆ–‡ๅญ—ใ‚’ใจใฃใฆHHH็—‡ๅ€™็พคใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏSLC25A15ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹2)ใ€‚"@ja ; - terms:identifier "2200485" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ HHH็—‡ๅ€™็พค๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่†œใซๅฑ€ๅœจใ™ใ‚‹ใ‚ชใƒซใƒ‹ใƒใƒณ่ผธ้€่›‹็™ฝ๏ผˆORNT1๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผ“ใคใฎๅพดๅ€™๏ผˆ้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผ‰ใฎ้ ญๆ–‡ๅญ—ใ‚’ใจใฃใฆHHH็—‡ๅ€™็พคใจใ‚ˆใฐใ‚Œใ‚‹ใ€‚่ฒฌไปป้บไผๅญใฏSLC25A15ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200485" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyperornithinemia-Hyperammonemia-Homocitrullinuria"@en, "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค"@ja ; + rdfs:label "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"@en, "ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†ใƒปใ“ใ†ใ‚ใ‚“ใ‚‚ใซใ‚ใ‘ใฃใ—ใ‚‡ใ†ใƒปใปใ‚‚ใ—ใจใ‚‹ใ‚Šใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "HHH"@en ; - skos:closeMatch mondo:MONDO_0009393 ; + rdfs:subClassOf ; + skos:altLabel "HHH"@en, "HHH syndrome"@en, "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome"@en ; + skos:closeMatch obo:MONDO_0009393 ; skos:prefLabel "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡็—‡ๅ€™็พค"@ja . -:2200486 - :hasNotificationNumber "7" ; - terms:description "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ก่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ๆœฌ็—‡ใฏใ‚ชใƒซใƒ‹ใƒใƒณฮด-ใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆOAT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้€ฒ่กŒๆ€งใฎ่„ˆ็ตก่†œ็ถฒ่†œๅค‰ๆ€งใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ณๅ›ž่ปข๏ผˆgyrus๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹็‰น็•ฐใช็œผๅบ•ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200486" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใƒป้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใƒปใƒ›ใƒขใ‚ทใƒˆใƒซใƒชใƒณๅฐฟ็—‡๏ผˆHyperornithinemia-Hyperammonemia-Homocitrullinuria๏ผšHHH๏ผ‰็—‡ๅ€™็พคใจ่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใฎ2ใคใฎ็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹1)ใ€‚โ‘ก่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡๏ผˆๆฆ‚่ฆใƒปๅฎš็พฉ๏ผ‰ๆœฌ็—‡ใฏใ‚ชใƒซใƒ‹ใƒใƒณฮด-ใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆOAT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€้€ฒ่กŒๆ€งใฎ่„ˆ็ตก่†œ็ถฒ่†œๅค‰ๆ€งใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„ณๅ›ž่ปข๏ผˆgyrus๏ผ‰ใ‚’ๆ€ใ‚ใ›ใ‚‹็‰น็•ฐใช็œผๅบ•ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ—ใ€้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡ใŒ็‰นๅพด็š„ใงใ‚ใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200486" ; + dcterms:source ; a owl:Class ; - rdfs:label "Gyrate Atrophy of Choroid and Retina"@en, "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡"@ja ; + rdfs:label "Gyrate atrophy of choroid and retina"@en, "ใฎใ†ใ‹ใ„ใฆใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใ‚‰ใใพใใ‚‚ใ†ใพใใ„ใ—ใ‚…ใใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ“ใ†ใŠใ‚‹ใซใกใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009796 ; + rdfs:subClassOf ; + skos:altLabel "GACR"@en, "่„ณๅ›ž่ปข็Šถ็ถฒ่„ˆ็ตก่†œ่Ž็ธฎ็—‡"@ja, "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009796 ; skos:prefLabel "่„ณๅ›ž่ปข็Šถ่„ˆ็ตก่†œ็ถฒ่†œ่Ž็ธฎ็—‡ใ‚’ไผดใ†้ซ˜ใ‚ชใƒซใƒ‹ใƒใƒณ่ก€็—‡"@ja . -:2200487 - :hasNotificationNumber "15" ; - terms:description "่…Žๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณๅฐ่…ธไธŠ็šฎใซๅฑ€ๅœจใ™ใ‚‹ไธญๆ€งใ‚ขใƒŸใƒŽ้…ธ่ผธ้€ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ€ๅฐฟไธญใธใฎๅคง้‡ใฎไธญๆ€งใ‚ขใƒŸใƒŽ้…ธๆŽ’ๆณ„ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใช่‡จๅบŠๅƒใฏใƒšใƒฉใ‚ฐใƒฉๆง˜็šฎ่†š็‚Žใ€ๅฐ่„ณๅคฑ่ชฟ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๅปถใชใฉใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถไพ‹ใ‚‚ๅคšใ„1)2)ใ€‚"@ja ; - terms:identifier "2200487" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "่…Žๅฐฟ็ดฐ็ฎกใŠใ‚ˆใณๅฐ่…ธไธŠ็šฎใซๅฑ€ๅœจใ™ใ‚‹ไธญๆ€งใ‚ขใƒŸใƒŽ้…ธ่ผธ้€ไฝ“ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ€ๅฐฟไธญใธใฎๅคง้‡ใฎไธญๆ€งใ‚ขใƒŸใƒŽ้…ธๆŽ’ๆณ„ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใช่‡จๅบŠๅƒใฏใƒšใƒฉใ‚ฐใƒฉๆง˜็šฎ่†š็‚Žใ€ๅฐ่„ณๅคฑ่ชฟ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๅปถใชใฉใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถไพ‹ใ‚‚ๅคšใ„1)2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200487" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hartnup disease"@en, "ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—…"@ja ; + rdfs:label "Hartnup disease"@en, "ใฏใƒผใจใชใฃใทใณใ‚‡ใ†"@ja-Hira, "ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—…"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Hartnup็—…"@ja ; - skos:closeMatch mondo:MONDO_0009324 ; + skos:closeMatch obo:MONDO_0009324 ; skos:prefLabel "ใƒใƒผใƒˆใƒŠใƒƒใƒ—็—…"@ja . -:2200488 - :hasNotificationNumber "21" ; - terms:description "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€่›‹็™ฝใฎใฒใจใคใงใ‚ใ‚‹ y+LAT-1( y+L amino acid transporter-1)ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚ŠใŠใ“ใ‚‹ใ€ใ“ใ‚Œใ‚‰ใฎ่†œ่ผธ้€้šœๅฎณใ‚’ใŠใ‚‚ใช็—…ๆ…‹ใจใ™ใ‚‹ใ€‚ไธŠ่จ˜ใ‚ขใƒŸใƒŽ้…ธใฎใ€ๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚"@ja ; - terms:identifier "2200488" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "ไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธ๏ผˆใƒชใ‚ธใƒณใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใ€ใ‚ชใƒซใƒ‹ใƒใƒณ๏ผ‰ใฎ่ผธ้€่›‹็™ฝใฎใฒใจใคใงใ‚ใ‚‹ y+LAT-1( y+L amino acid transporter-1)ใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚ŠใŠใ“ใ‚‹ใ€ใ“ใ‚Œใ‚‰ใฎ่†œ่ผธ้€้šœๅฎณใ‚’ใŠใ‚‚ใช็—…ๆ…‹ใจใ™ใ‚‹ใ€‚ไธŠ่จ˜ใ‚ขใƒŸใƒŽ้…ธใฎใ€ๅฐ่…ธใงใฎๅธๅŽ้šœๅฎณใ€่…Žใงใฎๅ†ๅธๅŽ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใซใ€ใ‚ขใƒŸใƒŽ้…ธใƒใƒฉใƒณใ‚นใฎ็ ด็ถปใ€่›‹็™ฝๅˆๆˆใฎไฝŽไธ‹ใ‚’ๆ‹›ใใ€่ซธ็—‡็Šถใ‚’ๆฅใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200488" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lysinuric protein intolerance"@en, "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009109 ; + rdfs:label "Lysinuric protein intolerance"@en, "ใ‚Šใ˜ใ‚“ใซใ‚‡ใ†ใ›ใ„ใŸใ‚“ใฑใใตใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009109 ; skos:prefLabel "ใƒชใ‚ธใƒณๅฐฟๆ€ง่›‹็™ฝไธ่€็—‡"@ja . -:2200489 - :hasNotificationNumber "13" ; - terms:description "ใ‚ทใ‚นใƒใƒณใจไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€็ณปใฎ้บไผ็š„็•ฐๅธธใŒๅŽŸๅ› ใจใชใ‚Šใ€ๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใ‚ทใ‚นใƒใƒณใฎๅ†ๅธๅŽ้šœๅฎณใŒ่ตทใ“ใ‚Šๅฐฟ่ทฏๅ†…ใซใ‚ทใ‚นใƒใƒณ็ต็ŸณใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200489" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "ใ‚ทใ‚นใƒใƒณใจไบŒๅกฉๅŸบๆ€งใ‚ขใƒŸใƒŽ้…ธใฎ่ผธ้€็ณปใฎ้บไผ็š„็•ฐๅธธใŒๅŽŸๅ› ใจใชใ‚Šใ€ๅฐฟ็ดฐ็ฎกใซใŠใ‘ใ‚‹ใ‚ทใ‚นใƒใƒณใฎๅ†ๅธๅŽ้šœๅฎณใŒ่ตทใ“ใ‚Šๅฐฟ่ทฏๅ†…ใซใ‚ทใ‚นใƒใƒณ็ต็ŸณใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200489" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cystinuria"@en, "ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja ; + rdfs:label "Cystinuria"@en, "ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009067 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009067 ; skos:prefLabel "ใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja . -:2200490 - :hasNotificationNumber "22" ; - terms:description "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใ‚„่ผธ้€ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹1ใ€œ21ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎใ‚ขใƒŸใƒŽ้…ธใฎไธŠๆ˜‡ใ‚„ไฝŽไธ‹ใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไฝ†ใ—ใ€ๅคš่‡“ๅ™จไธๅ…จใชใฉใฎ็•ฐๅŒ–ไบข้€ฒใซไผดใ†ไบŒๆฌก็š„ใชใ‚ขใƒŸใƒŽ้…ธใƒ—ใƒญใƒ•ใ‚กใ‚คใƒซใฎ็•ฐๅธธใฏ้™คๅค–ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200490" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใ‚„่ผธ้€ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ‚ขใƒŸใƒŽ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹1ใ€œ21ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎใ‚ขใƒŸใƒŽ้…ธใฎไธŠๆ˜‡ใ‚„ไฝŽไธ‹ใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ไฝ†ใ—ใ€ๅคš่‡“ๅ™จไธๅ…จใชใฉใฎ็•ฐๅŒ–ไบข้€ฒใซไผดใ†ไบŒๆฌก็š„ใชใ‚ขใƒŸใƒŽ้…ธใƒ—ใƒญใƒ•ใ‚กใ‚คใƒซใฎ็•ฐๅธธใฏ้™คๅค–ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200490" ; + dcterms:source ; a owl:Class ; - rdfs:label "1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of amino acid metabolism"@en ; + rdfs:label "1ใ‹ใ‚‰21ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ใฟใฎใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of amino acid metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "1ใ‹ใ‚‰21ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ขใƒŸใƒŽ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200491 - :hasNotificationNumber "110" ; - terms:description "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏไธŠใฎ้…ต็ด ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoAใƒ ใ‚ฟใƒผใ‚ผ (EC 5.4.99.2; MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200491" ; - terms:source ; - a owl:Class ; - rdfs:label "methylmalonic acidaemia"@en, "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "MMA"@en ; + + nando:hasNotificationNumber "109" ; + dcterms:description "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏไธŠใฎ้…ต็ด ใƒกใƒใƒซใƒžใƒญใƒ‹ใƒซCoAใƒ ใ‚ฟใƒผใ‚ผ (EC 5.4.99.2; MCM) ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใƒกใƒใƒซใƒžใƒญใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200491" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia"@en, "ใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MMA"@en, "Methylmalonic acidaemia"@en ; + skos:closeMatch obo:MONDO_0002012 ; skos:prefLabel "ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja . -:2200492 - :hasNotificationNumber "107" ; - terms:description "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏใฎไธญ้–“ไปฃ่ฌ้šœๅฎณใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ(MIM #606054)ใ€‚"@ja ; - terms:identifier "2200492" ; - terms:source ; - a owl:Class ; - rdfs:label "propionic acidaemia"@en, "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "PA"@en ; + + nando:hasNotificationNumber "106" ; + dcterms:description "ๅฟ…้ ˆใ‚ขใƒŸใƒŽ้…ธใงใ‚ใ‚‹ใƒใƒชใƒณใƒปใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณไปฃ่ฌ็ตŒ่ทฏใฎไธญ้–“ไปฃ่ฌ้šœๅฎณใซใ‚ˆใฃใฆใ€ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๆœ‰ๆฉŸ้…ธใŒ่“„็ฉใ—ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซไผดใ†ๅ„็จฎใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ(MIM #606054)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200492" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Propionic acidemia"@en, "ใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PA"@en, "Propionic acidaemia"@en ; + skos:closeMatch obo:MONDO_0011628 ; skos:prefLabel "ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja . -:2200493 - :hasNotificationNumber "108" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200493" ; - terms:source ; - a owl:Class ; - rdfs:label "beta-ketothiolase deficiency"@en, "ฮฒ-ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008760 ; - skos:prefLabel "ฮฒ-ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . - -:2200494 - :hasNotificationNumber "96" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้…ต็ด ใงใ‚ใ‚‹ใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€IVD้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚Šใƒญใ‚คใ‚ทใƒณใซ็”ฑๆฅใ™ใ‚‹ใ‚คใ‚ฝๅ‰่‰้…ธใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ฐใƒชใ‚ทใƒณใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใ€็‰นใซ้ฃข้ค“ๆ™‚ใซ้ซ˜ๅบฆใฎ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚„ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ—ๆญปไบกใ—ใŸใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใŸใ‚Šใ™ใ‚‹ใŒใ€ๆ—ฉๆœŸใซ่จบๆ–ญใ—้ฉๅˆ‡ใซๆฒป็™‚ใ•ใ‚Œใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅ‘ฝไบˆๅพŒใ‚„็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200494" ; - terms:source ; - a owl:Class ; - rdfs:label "isovaleric acidaemia"@en, "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "107" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใƒใ‚ชใƒฉใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ๆœฌ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใฃใฆใ€ใ‚คใ‚ฝใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใ€ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200493" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Beta-ketothiolase deficiency"@en, "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja, "ในใƒผใŸใ‘ใจใกใŠใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ฮฒ-ketothiolase deficiency"@en ; + skos:closeMatch obo:MONDO_0008760 ; + skos:prefLabel "ฮฒโ€”ใ‚ฑใƒˆใƒใ‚ชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "95" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข้…ต็ด ใงใ‚ใ‚‹ใ‚คใ‚ฝใƒใƒฌใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€IVD้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚Šใƒญใ‚คใ‚ทใƒณใซ็”ฑๆฅใ™ใ‚‹ใ‚คใ‚ฝๅ‰่‰้…ธใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ฐใƒชใ‚ทใƒณใ€ใ‚คใ‚ฝใƒใƒฌใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณใŒไฝ“ๅ†…ใซ่“„็ฉใ—ใ€็‰นใซ้ฃข้ค“ๆ™‚ใซ้ซ˜ๅบฆใฎ้…ธ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใซใฏใ€้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚„ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ—ๆญปไบกใ—ใŸใ‚Šไธญๆžข็ฅž็ตŒ็ณปๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ—ใŸใ‚Šใ™ใ‚‹ใŒใ€ๆ—ฉๆœŸใซ่จบๆ–ญใ—้ฉๅˆ‡ใซๆฒป็™‚ใ•ใ‚Œใ‚Œใฐใ€ใใฎๅพŒใฎ็”Ÿๅ‘ฝไบˆๅพŒใ‚„็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200494" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Isovaleric acidemia"@en, "ใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Isovaleric acidaemia"@en ; + skos:closeMatch obo:MONDO_0009475 ; skos:prefLabel "ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja . -:2200495 - :hasNotificationNumber "104" ; - terms:description "ใƒญใ‚คใ‚ทใƒณ็•ฐๅŒ–้Ž็จ‹ใฎไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚’3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซ-CoAใซๅค‰ๆ›ใ™ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใฏไนณๅนผๅ…ๆœŸใซๆ„ŸๆŸ“็—‡็ฝนๆ‚ฃ็ญ‰ใ‚’ๅฅ‘ๆฉŸใซReye็—‡ๅ€™็พคๆง˜็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใŒใ€ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถไพ‹ใ‹ใ‚‰้‡ๅบฆใฎ็™บ้”้…ๆปžไพ‹ใชใฉๅคšๅฝฉใช่‡จๅบŠๅƒใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)2)ใ€‚"@ja ; - terms:identifier "2200495" ; - terms:source ; - a owl:Class ; - rdfs:label "3-methylcrotonyl-CoA carboxylase deficiency"@en, "3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008861, mondo:MONDO_0018950 ; + + nando:hasNotificationNumber "103" ; + dcterms:description "ใƒญใ‚คใ‚ทใƒณ็•ฐๅŒ–้Ž็จ‹ใฎไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚’3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซ-CoAใซๅค‰ๆ›ใ™ใ‚‹3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซ-CoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆMCC๏ผ‰ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใšใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ธๅž‹ไพ‹ใฏไนณๅนผๅ…ๆœŸใซๆ„ŸๆŸ“็—‡็ฝนๆ‚ฃ็ญ‰ใ‚’ๅฅ‘ๆฉŸใซReye็—‡ๅ€™็พคๆง˜็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ใŒใ€ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹็„ก็—‡็Šถไพ‹ใ‹ใ‚‰้‡ๅบฆใฎ็™บ้”้…ๆปžไพ‹ใชใฉๅคšๅฝฉใช่‡จๅบŠๅƒใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1)2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200495" ; + dcterms:source ; + a owl:Class ; + rdfs:label "3-methylcrotonyl-CoA carboxylase deficiency"@en, "3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja, "3ใ‚ใกใ‚‹ใใ‚ใจใซใ‚‹ใ“ใˆใƒผใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซใ‚ฐใƒชใ‚ทใƒณๅฐฟ็—‡"@ja ; + skos:closeMatch obo:MONDO_0018950 ; skos:prefLabel "3-ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200496 - :hasNotificationNumber "109" ; - terms:description "ๅฐฟไธญใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธ(๏ผ“MGCA)ใฎ้Žๅ‰ฐๆŽ’ๆณ„ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจใฏI-Vใฎ5ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกๅฐฟไธญMGCAใฎ็”ฑๆฅใŒๆ˜Žใ‚‰ใ‹ใชใฎใฏIๅž‹ใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ(MGCH)ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ไป–ใฎ็—…ๅž‹ใฏใ€MGCAใฎๆŽ’ๆณ„ๅข—ๅŠ ใฏไป–ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใ‚‹ไบŒๆฌก็š„ๅค‰ๅŒ–ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200496" ; - terms:source ; + + nando:hasNotificationNumber "108" ; + dcterms:description "ๅฐฟไธญใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธ(๏ผ“MGCA)ใฎ้Žๅ‰ฐๆŽ’ๆณ„ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็พๅœจใฏI-Vใฎ5ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใกๅฐฟไธญMGCAใฎ็”ฑๆฅใŒๆ˜Žใ‚‰ใ‹ใชใฎใฏIๅž‹ใฎ3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒ‹ใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ(MGCH)ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ไป–ใฎ็—…ๅž‹ใฏใ€MGCAใฎๆŽ’ๆณ„ๅข—ๅŠ ใฏไป–ใฎไปฃ่ฌ็ตŒ่ทฏใฎ้šœๅฎณใซใ‚ˆใ‚‹ไบŒๆฌก็š„ๅค‰ๅŒ–ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200496" ; + dcterms:source ; a owl:Class ; - rdfs:label "Methylglutaconic aciduria"@en, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Methylglutaconic aciduria"@en, "ใ‚ใกใ‚‹ใใ‚‹ใŸใ“ใ‚“ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017359 ; skos:prefLabel "ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใ‚ณใƒณ้…ธๅฐฟ็—‡"@ja . -:2200497 - :hasNotificationNumber "103" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅญ˜ๅœจใ™ใ‚‹3-hydroxy-3-methylglutaryl-CoA (HMG-CoA)ใƒชใ‚ขใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ใงใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿใจใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€้žใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใจไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ใใŸใ™ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚็ด„ๅŠๆ•ฐใŒๆ–ฐ็”Ÿๅ…ๆœŸใซ๏ผŒใใฎใปใ‹ใฏไนณๅนผๅ…ๆœŸใซๅ˜”ๅใ‚„ๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“็ญ‰ใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใ€‚20๏ผ…ใฏ็™บไฝœๆ™‚ใซๆญปไบกใ™ใ‚‹ใจใ•ใ‚Œใ€็™บ้”้…ๆปžใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ใ€€ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใซใ‚ˆใ‚‹็™บ็—‡ไบˆ้˜ฒใƒป้šœๅฎณไบˆ้˜ฒใŒๅฏ่ƒฝใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใจ่จบๆ–ญใŒใคใ‘ใฐใ€้‡็ฏคใชไฝŽ่ก€็ณ–็™บไฝœใ‚’ๆฅใ•ใฌใ‚ˆใ†ๆณจๆ„ๆทฑใ„ใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200497" ; - terms:source ; + + nando:hasNotificationNumber "102" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซๅญ˜ๅœจใ™ใ‚‹3-hydroxy-3-methylglutaryl-CoA (HMG-CoA)ใƒชใ‚ขใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ใงใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿใจใƒญใ‚คใ‚ทใƒณใฎไธญ้–“ไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ€้žใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใจไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ใใŸใ™ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚็ด„ๅŠๆ•ฐใŒๆ–ฐ็”Ÿๅ…ๆœŸใซ๏ผŒใใฎใปใ‹ใฏไนณๅนผๅ…ๆœŸใซๅ˜”ๅใ‚„ๆ„่ญ˜้šœๅฎณใ€ใ‘ใ„ใ‚Œใ‚“็ญ‰ใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใ€‚20๏ผ…ใฏ็™บไฝœๆ™‚ใซๆญปไบกใ™ใ‚‹ใจใ•ใ‚Œใ€็™บ้”้…ๆปžใชใฉใฎๅพŒ้บ็—‡ใ‚’ๆฎ‹ใ™็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚ใ€€ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใซใ‚ˆใ‚‹็™บ็—‡ไบˆ้˜ฒใƒป้šœๅฎณไบˆ้˜ฒใŒๅฏ่ƒฝใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŸใ‚ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใจ่จบๆ–ญใŒใคใ‘ใฐใ€้‡็ฏคใชไฝŽ่ก€็ณ–็™บไฝœใ‚’ๆฅใ•ใฌใ‚ˆใ†ๆณจๆ„ๆทฑใ„ใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200497" ; + dcterms:source ; a owl:Class ; - rdfs:label "3-hydroxy-3-methylglutaric acidaemia"@en, "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡"@ja ; + rdfs:label "3-hydroxy-3-methylglutaric acidemia"@en, "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡"@ja, "3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "HMG-CoA lyase deficiency"@en ; - skos:closeMatch mondo:MONDO_0009520 ; + rdfs:subClassOf ; + skos:altLabel "3-hydroxy-3-methylglutaric acidaemia"@en, "HMG-CoA lyase deficiency"@en, "๏ผจ๏ผญ๏ผง่ก€็—‡"@ja ; + skos:closeMatch obo:MONDO_0009520 ; skos:prefLabel "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡"@ja . -:2200498 - :hasNotificationNumber "102" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽ"@ja ; - terms:identifier "2200498" ; - terms:source ; + + nando:hasNotificationNumber "101" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoA(HMG-CoA)ๅˆๆˆ้…ต็ด ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ฮฒ้…ธๅŒ–็ณปใง็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ขใ‚ปใƒใƒซ-CoA, ใ‚ขใ‚ปใƒˆใ‚ขใ‚ปใƒใƒซ-CoAใ‹ใ‚‰3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซ-CoAใ‚’ๅˆๆˆใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๆœฌ้…ต็ด ใฎๆดปๆ€งๆธฌๅฎšใฏ้›ฃใ—ใ๏ผŒใใฎใŸใ‚่จบๆ–ญ็ขบๅฎšไพ‹ใŒๅฐ‘ใชใ„๏ผŽ็พๅœจๆœ€ใ‚‚ๆœ‰็”จใชใฎใฏ้บไผๅญ่จบๆ–ญใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽ่จบๆ–ญใ‚’็–‘ใฃใฆๆคœๆŸปใ—ใชใ„ใจ่จบๆ–ญใฏไธๅฏ่ƒฝ๏ผŽๅคšใใฎๆœช่จบๆ–ญไพ‹ใŒใ‚ใ‚‹ใจๆ€ใ‚ใ‚Œใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200498" ; + dcterms:source ; a owl:Class ; - rdfs:label "3-hydroxy-3-methylglutaryl-CoA synthase deficiency"@en, "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "3-hydroxy-3-methylglutaryl-CoA synthase deficiency"@en, "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja, "3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚Šใ‚‹ใ“ใˆใƒผใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "HMG-CoA synthase deficiency"@en ; - skos:closeMatch mondo:MONDO_0011614 ; + skos:closeMatch obo:MONDO_0011614 ; skos:prefLabel "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒชใƒซCoAๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200499 - :hasNotificationNumber "101" ; - terms:description "ใ‚ฑใƒˆใƒณไฝ“ใฎ่‚ๅค–็ต„็น”ใงใฎๅˆฉ็”จใซ้‡่ฆใชใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA:3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(SCOT)้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200499" ; - terms:source ; + + nando:hasNotificationNumber "100" ; + dcterms:description "ใ‚ฑใƒˆใƒณไฝ“ใฎ่‚ๅค–็ต„็น”ใงใฎๅˆฉ็”จใซ้‡่ฆใชใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA:3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(SCOT)้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€งใ‚ฑใƒˆใƒณไฝ“ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200499" ; + dcterms:source ; a owl:Class ; - rdfs:label "succinyl-CoA:3-ketoacid CoA transferase deficiency"@en, "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Succinyl-CoA:3-ketoacid CoA transferase deficiency"@en, "ใ™ใใ—ใซใ‚‹ใ“ใˆใƒผ๏ผš3ใ‘ใจใ•ใ‚“ใ“ใˆใƒผใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "SCOTๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009492 ; + rdfs:subClassOf ; + skos:altLabel "SCOT deficiency"@en, "SCOTๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009492 ; skos:prefLabel "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoA๏ผš3-ใ‚ฑใƒˆ้…ธCoAใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200500 - :hasNotificationNumber "106" ; - terms:description "ใƒ“ใ‚ชใƒใƒณไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ใ‚‚ใ—ใใฏใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Š4็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PCC)ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(MCC)ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PC)ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(ACC)๏ผ‰ใŒๅŒๆ™‚ใซๆดปๆ€งไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200500" ; - terms:source ; + + nando:hasNotificationNumber "105" ; + dcterms:description "ใƒ“ใ‚ชใƒใƒณไปฃ่ฌใซ้–ข้€ฃใ™ใ‚‹ใƒ›ใƒญใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๅˆๆˆ้…ต็ด ใ‚‚ใ—ใใฏใƒ“ใ‚ชใƒใƒ‹ใƒ€ใƒผใ‚ผ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Š4็จฎ้กžใฎใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆใƒ—ใƒญใƒ”ใ‚ชใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PCC)ใ€ใƒกใƒใƒซใ‚ฏใƒญใƒˆใƒ‹ใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(MCC)ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(PC)ใ‚ขใ‚ปใƒใƒซCoAใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ(ACC)๏ผ‰ใŒๅŒๆ™‚ใซๆดปๆ€งไฝŽไธ‹ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200500" ; + dcterms:source ; a owl:Class ; - rdfs:label "multiple carboxylase deficiency"@en, "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009666, mondo:MONDO_0015454 ; + rdfs:label "Multiple carboxylase deficiency"@en, "ใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015454 ; skos:prefLabel "่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200501 - :hasNotificationNumber "98" ; - terms:description "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200501" ; - terms:source ; - a owl:Class ; - rdfs:label "Glutaric acidaemia type 1"@en, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Glutaryl-CoA dehydrogenase deficiency"@en ; - skos:closeMatch mondo:MONDO_0009281 ; - skos:prefLabel "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja . + + nando:hasNotificationNumber "97" ; + dcterms:description "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹ใฏใƒชใ‚ธใƒณใ€ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒชใ‚ธใƒณใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณใฎไธญ้–“ไปฃ่ฌ้Ž็จ‹ใงๅƒใใ‚ฐใƒซใ‚ฟใƒชใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆGCDH๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธใ€3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ฐใƒซใ‚ฟใƒซ้…ธใชใฉใฎ่“„็ฉใŒไธญๆžข็ฅž็ตŒใ€็‰นใซ็ทšๆกไฝ“ใฎๅฐพ็Šถๆ ธใ‚„่ขซๆฎปใฎ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๅคšใใฏ็”ŸๅพŒ3โˆ’36ใ‹ๆœˆใฎ้–“ใซใ€่ƒƒ่…ธ็‚Žใ‚„็™บ็†ฑใ‚’ไผดใ†ๆ„ŸๆŸ“ใชใฉใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜็™บไฝœใง็™บ็—‡ใ™ใ‚‹1-4)ใ€‚้ ญๅ›ฒๆ‹กๅคงใ‚„้€€่กŒใง็™บ็—‡ใ—ใ€้Œไฝ“ๅค–่ทฏ็—‡็ŠถใŒๅพใ€…ใซ้€ฒ่กŒใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹3)5)6)ใ€‚ๆœฌ็–พๆ‚ฃใฏๆ—ฉๆœŸ่จบๆ–ญใƒปๆฒป็™‚ใซใ‚ˆใ‚Šๅฅๅธธใช็™บ้”ใŒ่ฆ‹่พผใพใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎไธ€ๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200501" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glutaric acidemia type 1"@en, "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใคใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GA1"@en, "Glutaric acidaemia type 1"@en, "Glutaryl-CoA dehydrogenase deficiency"@en ; + skos:closeMatch obo:MONDO_0009281 ; + skos:prefLabel "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡1ๅž‹"@ja . -:2200502 - :hasNotificationNumber "99" ; - terms:description "ใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡๏ผ’ๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ(electron transfer flavoprotein: ETF)ใ‚‚ใ—ใใฏETF่„ฑๆฐด็ด ้…ต็ด (ETF dehydrogenase: ETFDH)ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฐใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡2ๅž‹ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—่‡ดๆญป็š„ใชๆœ€้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏไบŒๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200502" ; - terms:source ; - a owl:Class ; - rdfs:label "Glutaric acidaemia type 2"@en, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Glutaric aciduria type 2"@en, "multiple acyl-CoA dehydrogenase deficiency"@en ; - skos:closeMatch mondo:MONDO_0009282 ; + + nando:hasNotificationNumber "98" ; + dcterms:description "ใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡๏ผ’ๅž‹ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎ้›ปๅญไผ้”ใƒ•ใƒฉใƒ“ใƒณ่›‹็™ฝ(electron transfer flavoprotein: ETF)ใ‚‚ใ—ใใฏETF่„ฑๆฐด็ด ้…ต็ด (ETF dehydrogenase: ETFDH)ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฐใƒซใ‚ฟใƒซ้…ธๅฐฟ็—‡2ๅž‹ใ€ใƒžใƒซใƒใƒ—ใƒซใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡ใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚่‡จๅบŠๅƒใฏๅน…ๅบƒใใ€ๆ–ฐ็”Ÿๅ…ๆœŸใซ้‡็ฏคใชไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚น็ญ‰ใง็™บ็—‡ใ—่‡ดๆญป็š„ใชๆœ€้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ไนณๅนผๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚„ไฝŽ่ก€็ณ–ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใจใ—ใฆ็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใ€ๆˆไบบๆœŸใซ็ญ‹็—›ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใ•ใ‚Œใ‚‹็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใซใ‚ˆใ‚‹ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏไบŒๆฌกๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๅฝขๅผใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200502" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glutaric acidemia type 2"@en, "ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใคใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GA2"@en, "Glutaric acidaemia type 2"@en, "Multiple acyl-CoA dehydrogenase deficiency"@en, "multiple acyl-CoA dehydrogenase deficiency"@en ; + skos:closeMatch obo:MONDO_0009282 ; skos:prefLabel "ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ’ๅž‹"@ja . -:2200503 - :hasNotificationNumber "100" ; - terms:description "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹๏ผˆprimary hyperoxaluria type 1; PH1๏ผ‰ใฏ่‚่‡“ใฎใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒฉใƒ‹ใƒณ๏ผšใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆalanine:glyoxylate aminotransferase: AGT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ๅ†…ใฎใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ…กๅž‹๏ผˆPH2๏ผ‰ใฏ่‚่‡“ใฎใ‚ตใ‚คใƒˆใ‚พใƒซใซๅฑ€ๅœจใ™ใ‚‹ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธ้‚„ๅ…ƒ้…ต็ด /ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ”ใƒซใƒ“ใƒณ้…ธ้‚„ๅ…ƒ้…ต็ด (GRHPR)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใฏใ‚ทใƒฅใ‚ฆ้…ธใฎๅ‰้ง†็‰ฉ่ณชใงใ‚ใ‚Šใ€ไธกๅž‹ใจใ‚‚้Žๅ‰ฐใซ็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ทใƒฅใ‚ฆ้…ธใซใ‚ˆใ‚Šใ€ไธๆบถๆ€งใฎใ‚ทใƒฅใ‚ฆ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใŒ่…Ž่‡“ใ‚’ใฏใ˜ใ‚ๅ…จ่บซใฎ่‡“ๅ™จใซๆฒˆ็€ใ—ใฆๅคš่‡“ๅ™จใซ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœ€่ฟ‘ใ€non-PH1/non-PH2ใฎPHใฎๅฎถ็ณปไพ‹ใงใ€ใƒ›ใƒขๆŽฅๅˆไฝ“ใƒžใƒƒใƒ”ใƒณใ‚ฐๆณ•ใซใ‚ˆใ‚Š10็•ชๆŸ“่‰ฒไฝ“q24.2ใซๅญ˜ๅœจใ™ใ‚‹DHDPSL้บไผๅญใฎๅค‰็•ฐใŒ็ฌฌ๏ผ“ใฎPHใฎ็—…ๅ› ใงใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‹ใ‚‰ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใธใฎไปฃ่ฌ็ตŒ่ทฏใซใ‚ใ‚‹้…ต็ด ่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใจ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200503" ; - terms:source ; + + nando:hasNotificationNumber "99" ; + dcterms:description "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ… ๅž‹๏ผˆprimary hyperoxaluria type 1; PH1๏ผ‰ใฏ่‚่‡“ใฎใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ใ‚ขใƒฉใƒ‹ใƒณ๏ผšใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใ‚ขใƒŸใƒŽใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆalanine:glyoxylate aminotransferase: AGT๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚่‡“ๅ†…ใฎใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡โ…กๅž‹๏ผˆPH2๏ผ‰ใฏ่‚่‡“ใฎใ‚ตใ‚คใƒˆใ‚พใƒซใซๅฑ€ๅœจใ™ใ‚‹ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธ้‚„ๅ…ƒ้…ต็ด /ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ”ใƒซใƒ“ใƒณ้…ธ้‚„ๅ…ƒ้…ต็ด (GRHPR)ใฎๆฌ ๆใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใฏใ‚ทใƒฅใ‚ฆ้…ธใฎๅ‰้ง†็‰ฉ่ณชใงใ‚ใ‚Šใ€ไธกๅž‹ใจใ‚‚้Žๅ‰ฐใซ็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ทใƒฅใ‚ฆ้…ธใซใ‚ˆใ‚Šใ€ไธๆบถๆ€งใฎใ‚ทใƒฅใ‚ฆ้…ธใ‚ซใƒซใ‚ทใ‚ฆใƒ ใŒ่…Ž่‡“ใ‚’ใฏใ˜ใ‚ๅ…จ่บซใฎ่‡“ๅ™จใซๆฒˆ็€ใ—ใฆๅคš่‡“ๅ™จใซ้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœ€่ฟ‘ใ€non-PH1/non-PH2ใฎPHใฎๅฎถ็ณปไพ‹ใงใ€ใƒ›ใƒขๆŽฅๅˆไฝ“ใƒžใƒƒใƒ”ใƒณใ‚ฐๆณ•ใซใ‚ˆใ‚Š10็•ชๆŸ“่‰ฒไฝ“q24.2ใซๅญ˜ๅœจใ™ใ‚‹DHDPSL้บไผๅญใฎๅค‰็•ฐใŒ็ฌฌ๏ผ“ใฎPHใฎ็—…ๅ› ใงใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใ€ใ“ใฎ้บไผๅญใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใฎใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ—ใƒญใƒชใƒณใ‹ใ‚‰ใ‚ฐใƒชใ‚ชใ‚ญใ‚ทใƒซ้…ธใธใฎไปฃ่ฌ็ตŒ่ทฏใซใ‚ใ‚‹้…ต็ด ่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใจ็คบๅ”†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200503" ; + dcterms:source ; a owl:Class ; - rdfs:label "Primary hyperoxaluria"@en, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡"@ja ; + rdfs:label "Primary hyperoxaluria"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ—ใ‚…ใ†ใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002474 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002474 ; skos:prefLabel "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ทใƒฅใ‚ฆ้…ธๅฐฟ็—‡"@ja . -:2200504 - :hasNotificationNumber "95" ; - terms:description "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใฎไปฃ่ฌ็ตŒ่ทฏไธŠใซไฝ็ฝฎใ™ใ‚‹ใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ(homogentisic acid, HGA)ใ‚’ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใธใจ่ปขๆ›ใ™ใ‚‹HGA-1,2-ใ‚ธใ‚ชใ‚ญใ‚ทใ‚ฒใƒŠใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™(1)ใ€‚ๆœฌ็—‡ใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใฏใ€ๅฐฟไธญใธใฎHGAใฎๆŽ’ๆณ„ๅข—ๅŠ ใ€HGAใƒใƒชใƒžใƒผใ‚„HGAใฎ้…ธๅŒ–็‰ฉใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚‹็ตๅˆ็น”ใฎ่ค่‰ฒๅค‰ๅŒ–ใ€่„ŠๆคŽใ‚„ๅคง้–ข็ฏ€ใฎ้–ข็ฏ€็‚Žใ€ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๅฟƒ่ก€็ฎก็ณปใธHGAใŒๆฒˆ็€ใ™ใ‚‹ใจใ€ๅคงๅ‹•่„ˆๅผใ‚„ๅƒงๅธฝๅผใฎ้–‰้Ž–ไธๅ…จ็—‡ใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "2200504" ; - terms:source ; + + nando:hasNotificationNumber "94" ; + dcterms:description "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใฎไปฃ่ฌ็ตŒ่ทฏไธŠใซไฝ็ฝฎใ™ใ‚‹ใ€ใƒ›ใƒขใ‚ฒใƒณใƒใ‚ธใƒณ้…ธ(homogentisic acid, HGA)ใ‚’ใƒžใƒฌใ‚คใƒซใ‚ขใ‚ปใƒˆ้…ข้…ธใธใจ่ปขๆ›ใ™ใ‚‹HGA-1,2-ใ‚ธใ‚ชใ‚ญใ‚ทใ‚ฒใƒŠใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™(1)ใ€‚ๆœฌ็—‡ใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใฏใ€ๅฐฟไธญใธใฎHGAใฎๆŽ’ๆณ„ๅข—ๅŠ ใ€HGAใƒใƒชใƒžใƒผใ‚„HGAใฎ้…ธๅŒ–็‰ฉใฎ็ต„็น”ๆฒˆ็€ใซใ‚ˆใ‚‹็ตๅˆ็น”ใฎ่ค่‰ฒๅค‰ๅŒ–ใ€่„ŠๆคŽใ‚„ๅคง้–ข็ฏ€ใฎ้–ข็ฏ€็‚Žใ€ใงใ‚ใ‚‹ใ€‚ใพใŸใ€ๅฟƒ่ก€็ฎก็ณปใธHGAใŒๆฒˆ็€ใ™ใ‚‹ใจใ€ๅคงๅ‹•่„ˆๅผใ‚„ๅƒงๅธฝๅผใฎ้–‰้Ž–ไธๅ…จ็—‡ใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200504" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alkaptonuria"@en, "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡"@ja ; + rdfs:label "Alkaptonuria"@en, "ใ‚ใ‚‹ใ‹ใทใจใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008753 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008753 ; skos:prefLabel "ใ‚ขใƒซใ‚ซใƒ—ใƒˆใƒณๅฐฟ็—‡"@ja . -:2200505 - :hasNotificationNumber "97" ; - terms:description "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซใ‚ญใƒŠใƒผใ‚ผ (GK) ๆฌ ๆ็—‡๏ผˆGKD; OMIM #307030๏ผ‰ใฏใ€้ซ˜ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ่ก€็—‡ใจๅฐฟไธญใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๆŽ’ๆณ„ไบข้€ฒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚GK ใซใ‚ˆใฃใฆ็”Ÿๆˆใ™ใ‚‹ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ-3-ใƒชใƒณ้…ธใฏใ€ไธญๆ€ง่„‚่‚ชใชใฉใฎ่„‚่ณชๅˆๆˆใ‚„็ณ–ๆ–ฐ็”ŸใฎๅŸบ่ณชใงใ‚ใ‚Šใ€GKD ๆ‚ฃ่€…ใฏใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใ‚’ไธปๅพดใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200505" ; - terms:source ; + + nando:hasNotificationNumber "96" ; + dcterms:description "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซใ‚ญใƒŠใƒผใ‚ผ (GK) ๆฌ ๆ็—‡๏ผˆGKD; OMIM #307030๏ผ‰ใฏใ€้ซ˜ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ่ก€็—‡ใจๅฐฟไธญใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๆŽ’ๆณ„ไบข้€ฒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€งใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚GK ใซใ‚ˆใฃใฆ็”Ÿๆˆใ™ใ‚‹ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซ-3-ใƒชใƒณ้…ธใฏใ€ไธญๆ€ง่„‚่‚ชใชใฉใฎ่„‚่ณชๅˆๆˆใ‚„็ณ–ๆ–ฐ็”ŸใฎๅŸบ่ณชใงใ‚ใ‚Šใ€GKD ๆ‚ฃ่€…ใฏใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–ใ‚’ไธปๅพดใจใ™ใ‚‹่‡จๅบŠ็—‡็Šถใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200505" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycerol kinase deficiency"@en, "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Glycerol kinase deficiency"@en, "ใใ‚Šใ›ใ‚ใƒผใ‚‹ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "GKD"@en ; - skos:closeMatch mondo:MONDO_0010613 ; + skos:closeMatch obo:MONDO_0010613 ; skos:prefLabel "ใ‚ฐใƒชใ‚ปใƒญใƒผใƒซๅฐฟ็—‡"@ja . -:2200506 - :hasNotificationNumber "105" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใจใฏใ€่ƒ†ๆฑ้…ธ็”Ÿๅˆๆˆ็ตŒ่ทฏ๏ผˆneutral pathwayใจacidic pathway๏ผ‰ใฎ้บไผๆ€ง้…ต็ด ๆฌ ๆใ‚’1ๆฌกๆ€งใฎ็—…ๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ€ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹็•ฐๅธธ่ƒ†ๆฑ้…ธใ‚‚ใ—ใใฏ่ƒ†ๆฑใ‚ขใƒซใ‚ณใƒผใƒซใฎ่‚็ดฐ่ƒžๅ†…่“„็ฉใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ˜็จฎ้กž๏ผˆ3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡ใ€sterol 27-hydroxylase ๆฌ ๆ็—‡ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡ใ€bile acid-CoA: aminoacid N-acyltransferase ๆฌ ๆ็—‡ใ€bile acid-CoA ligase ๆฌ ๆ็—‡ใ€๏ก-methylacyl CoA racemase ๆฌ ๆ็—‡ใ€cholesterol 7๏ก-hydroxylase ๆฌ ๆ็—‡๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆๆœฌ้‚ฆใงใฏ๏ผ“็จฎ๏ผ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผš3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡3ไพ‹ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡3ไพ‹ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡1ไพ‹๏ผ‰ใ€‚"@ja ; - terms:identifier "2200506" ; - terms:source ; + + nando:hasNotificationNumber "104" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใจใฏใ€่ƒ†ๆฑ้…ธ็”Ÿๅˆๆˆ็ตŒ่ทฏ๏ผˆneutral pathwayใจacidic pathway๏ผ‰ใฎ้บไผๆ€ง้…ต็ด ๆฌ ๆใ‚’1ๆฌกๆ€งใฎ็—…ๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ€ไธญ้–“ไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹็•ฐๅธธ่ƒ†ๆฑ้…ธใ‚‚ใ—ใใฏ่ƒ†ๆฑใ‚ขใƒซใ‚ณใƒผใƒซใฎ่‚็ดฐ่ƒžๅ†…่“„็ฉใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€๏ผ˜็จฎ้กž๏ผˆ3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡ใ€sterol 27-hydroxylase ๆฌ ๆ็—‡ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡ใ€bile acid-CoA: aminoacid N-acyltransferase ๆฌ ๆ็—‡ใ€bile acid-CoA ligase ๆฌ ๆ็—‡ใ€๏ก-methylacyl CoA racemase ๆฌ ๆ็—‡ใ€cholesterol 7๏ก-hydroxylase ๆฌ ๆ็—‡๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆๆœฌ้‚ฆใงใฏ๏ผ“็จฎ๏ผ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผš3๏ข-hydroxy ๏„5-C27-steroid dehydrogenase/isomerase ๆฌ ๆ็—‡3ไพ‹ใ€๏„4-3-oxosteroid 5๏ข-reductase ๆฌ ๆ็—‡3ไพ‹ใ€oxysterol 7๏ก-hydroxylase ๆฌ ๆ็—‡1ไพ‹๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200506" ; + dcterms:source ; a owl:Class ; - rdfs:label "Inborn errors of bile acid metabolism"@en, "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + rdfs:label "Inborn errors of bile acid metabolism"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019218 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ƒ†ๆฑ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200507 - :hasNotificationNumber "111" ; - terms:description "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใฎ้Ž็จ‹ใงใ€ใ‚ขใƒŸใƒŽๅŸบใŒๅค–ใ‚ŒใŸๅพŒใฎๅˆ†่งฃใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆœ‰ๆฉŸ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹23ใ€œ38ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„่ฃœ้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎๆœ‰ๆฉŸ้…ธใŒไธŠๆ˜‡ใ™ใ‚‹็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200507" ; - terms:source ; + + nando:hasNotificationNumber "110" ; + dcterms:description "ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใฎๅˆ†่งฃใฎ้Ž็จ‹ใงใ€ใ‚ขใƒŸใƒŽๅŸบใŒๅค–ใ‚ŒใŸๅพŒใฎๅˆ†่งฃใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆœ‰ๆฉŸ้…ธใŒไฝ“ๅ†…ใซ่ฒฏ็•™ใ—ใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹23ใ€œ38ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„่ฃœ้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่ก€ไธญใ€ๅฐฟไธญใฎ็‰นๅฎšใฎๆœ‰ๆฉŸ้…ธใŒไธŠๆ˜‡ใ™ใ‚‹็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200507" ; + dcterms:source ; a owl:Class ; - rdfs:label "23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of organic acid metabolism"@en ; + rdfs:label "23ใ‹ใ‚‰38ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚†ใ†ใใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of organic acid metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "23ใ‹ใ‚‰38ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆœ‰ๆฉŸ้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200508 - :hasNotificationNumber "46" ; - terms:description "ใ‚ซใƒซใƒ‹ใƒใƒณใฏใƒ‘ใƒซใƒŸใƒใƒณ้…ธ(C16)ใซไปฃ่กจใ•ใ‚Œใ‚‹้•ท้Ž–่„‚่‚ช้…ธใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธๅ–ใ‚Š่พผใ‚€ใŸใ‚ใฎ่ผธ้€ไฝ“ใจใ—ใฆๅƒใ๏ผŽๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡ใฏ็ดฐ่ƒž่†œไธŠใซๅฑ€ๅœจใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ (OCTN2)ใฎๆฉŸ่ƒฝไฝŽไธ‹ใŒๅŽŸๅ› ใง๏ผŒ็ดฐ่ƒžๅ†…ใ‚ซใƒซใƒ‹ใƒใƒณใŒๆฌ ไนใ—๏ผŒ็ตๆžœใจใ—ใฆ้•ท้Ž–่„‚่‚ช้…ธไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹"@ja ; - terms:identifier "2200508" ; - terms:source ; + + nando:hasNotificationNumber "46" ; + dcterms:description "ใ‚ซใƒซใƒ‹ใƒใƒณใฏใƒ‘ใƒซใƒŸใƒใƒณ้…ธ(C16)ใซไปฃ่กจใ•ใ‚Œใ‚‹้•ท้Ž–่„‚่‚ช้…ธใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธๅ–ใ‚Š่พผใ‚€ใŸใ‚ใฎ่ผธ้€ไฝ“ใจใ—ใฆๅƒใ๏ผŽๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ไน็—‡ใฏ็ดฐ่ƒž่†œไธŠใซๅฑ€ๅœจใ™ใ‚‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ (OCTN2)ใฎๆฉŸ่ƒฝไฝŽไธ‹ใŒๅŽŸๅ› ใง๏ผŒ็ดฐ่ƒžๅ†…ใ‚ซใƒซใƒ‹ใƒใƒณใŒๆฌ ไนใ—๏ผŒ็ตๆžœใจใ—ใฆ้•ท้Ž–่„‚่‚ช้…ธไปฃ่ฌใŒ้šœๅฎณใ•ใ‚Œใ‚‹"@ja ; + dcterms:identifier "NANDO:2200508" ; + dcterms:source ; a owl:Class ; - rdfs:label "Organic cation transporter 2 deficiency"@en, "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡"@ja ; + rdfs:label "Organic cation transporter 2 deficiency"@en, "ใœใ‚“ใ—ใ‚“ใ›ใ„ใ‹ใ‚‹ใซใกใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Carnitine uptake defect"@en ; - skos:closeMatch mondo:MONDO_0008919 ; + rdfs:subClassOf ; + skos:altLabel "Carnitine uptake defect"@en, "OCTN2 deficiency"@en ; + skos:closeMatch obo:MONDO_0008919 ; skos:prefLabel "ๅ…จ่บซๆ€งใ‚ซใƒซใƒ‹ใƒใƒณๆฌ ๆ็—‡"@ja . -:2200509 - :hasNotificationNumber "41" ; - terms:description "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€่ก€ไธญใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใŒ่‘—ๅข—ใ—ใ€็ทใ‚ซใƒซใƒ‹ใƒใƒณ้‡ใ‚‚ๆญฃๅธธ๏ฝž่ปฝๅบฆๅข—ๅŠ ใ™ใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€ไฝŽใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–็—‡ใจใจใ‚‚ใซReyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹๏ผˆๆณจ1, 2๏ผ‰ใ€‚"@ja ; - terms:identifier "2200509" ; - terms:source ; - a owl:Class ; - rdfs:label "Carnitine palmitoyl transferase I deficiency"@en, "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009705 ; + + nando:hasNotificationNumber "41" ; + dcterms:description "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€่ก€ไธญใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใŒ่‘—ๅข—ใ—ใ€็ทใ‚ซใƒซใƒ‹ใƒใƒณ้‡ใ‚‚ๆญฃๅธธ๏ฝž่ปฝๅบฆๅข—ๅŠ ใ™ใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€ไฝŽใ‚ฑใƒˆใƒณๆ€งไฝŽ่ก€็ณ–็—‡ใจใจใ‚‚ใซReyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹๏ผˆๆณจ1, 2๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200509" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carnitine palmitoyltransferase I deficiency"@en, "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CPT1ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009705 ; skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ… ๆฌ ๆ็—‡"@ja . -:2200510 - :hasNotificationNumber "42" ; - terms:description "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€Reyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200510" ; - terms:source ; - a owl:Class ; - rdfs:label "Carnitine palmitoyl transferase II deficiency"@en, "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผโ…กๆฌ ๆ็—‡"@ja . - -:2200511 - :hasNotificationNumber "40" ; - terms:description "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€้•ท้Ž–ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅ–ใ‚Š่พผใ‚“ใ ใ‚Šใ€CPT2ใซใ‚ˆใฃใฆๅˆ†้›ขใ•ใ‚ŒใŸ้Š้›ขใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅค–ใซ้‹ใณๅ‡บใ™ๅƒใใ‚’ใ—ใฆใ„ใ‚‹CACTใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฏๅˆ†้›ขใ•ใ‚Œใšใซๅˆฉ็”จใงใใšใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใงใฎ่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CPT IIใจใปใผๅŒใ˜็—…ๆ…‹ใ‚’็คบใ™ใ€‚้ฃข้ค“ๆ™‚ใฎไฝŽ่ก€็ณ–ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใŒใŠใ‚‚ใช็—‡็Šถใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200511" ; - terms:source ; - a owl:Class ; - rdfs:label "Carnitine-acylcarnitine translocase deficiency"@en, "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008918 ; - skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja . - -:2200512 - :hasNotificationNumber "43" ; - terms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (very-long-chain acyl-CoA dehydrogenase: VLCAD)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œไธŠๅ†…ๅดใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไธ‰้ ญ้…ต็ด ใจใจใจใ‚‚ใซ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’ๆ‹…ใ†ใ€‚"@ja ; - terms:identifier "2200512" ; - terms:source ; - a owl:Class ; - rdfs:label "Very-long-chain acyl-CoA dehydrogenase deficiency"@en, "ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + + nando:hasNotificationNumber "42" ; + dcterms:description "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€ใƒ•ใƒชใƒผใ‚ซใƒซใƒ‹ใƒใƒณใ‹ใ‚‰ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฎ็”ŸๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใธใฎ่ปข้€ใŒ้šœๅฎณใ•ใ‚Œใ€่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใฏใ‘ใ„ใ‚Œใ‚“ใ€ๆ„่ญ˜้šœๅฎณใ€ๅ‘ผๅธ้šœๅฎณใชใฉใงๆ€ฅๆ€ง็™บ็—‡ใ—ใ€่‘—ใ—ใ„ไฝŽ่ก€็ณ–ใ‚„้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใชใฉใ‚’ใใŸใ™ใ€‚ไนณๅ…ๆœŸไปฅ้™ใฏ้ฃข้ค“ๆ™‚ใ‚„็™บ็†ฑๆ™‚ใซใ€Reyeๆง˜็—‡ๅ€™็พคใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ€‚ๆ€ฅๆ€ง็™บ็—‡ใŒๆญปไบกใซใคใชใŒใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200510" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carnitine palmitoyltransferase II deficiency"@en, "ใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CPT II deficiency"@en, "CPT2ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0015515 ; + skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:description "ใ‚ซใƒซใƒ‹ใƒใƒณๅ›ž่ทฏ็•ฐๅธธ็—‡ใฎ1ใคใงใ€้•ท้Ž–ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅ–ใ‚Š่พผใ‚“ใ ใ‚Šใ€CPT2ใซใ‚ˆใฃใฆๅˆ†้›ขใ•ใ‚ŒใŸ้Š้›ขใ‚ซใƒซใƒ‹ใƒใƒณใ‚’ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅค–ใซ้‹ใณๅ‡บใ™ๅƒใใ‚’ใ—ใฆใ„ใ‚‹CACTใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใฏๅˆ†้›ขใ•ใ‚Œใšใซๅˆฉ็”จใงใใšใ€้•ท้Ž–่„‚่‚ช้…ธใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใงใฎ่„‚่‚ช้…ธไปฃ่ฌใŒๅๅˆ†่กŒใ‚ใ‚Œใšใซใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚CPT IIใจใปใผๅŒใ˜็—…ๆ…‹ใ‚’็คบใ™ใ€‚้ฃข้ค“ๆ™‚ใฎไฝŽ่ก€็ณ–ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใŒใŠใ‚‚ใช็—‡็Šถใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200511" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carnitine-acylcarnitine translocase deficiency"@en, "ใ‹ใ‚‹ใซใกใ‚“/ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CACT deficiency"@en, "CACTๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008918 ; + skos:prefLabel "ใ‚ซใƒซใƒ‹ใƒใƒณ/ใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "43" ; + dcterms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (very-long-chain acyl-CoA dehydrogenase: VLCAD)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œไธŠๅ†…ๅดใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไธ‰้ ญ้…ต็ด ใจใจใจใ‚‚ใซ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’ๆ‹…ใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200512" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Very-long-chain acyl-CoA dehydrogenase deficiency"@en, "ใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008723 ; + rdfs:subClassOf ; + skos:altLabel "VLCAD deficiency"@en, "VLCADD"@en ; + skos:closeMatch obo:MONDO_0008723 ; skos:prefLabel "ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200513 - :hasNotificationNumber "48" ; - terms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆMCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚ไธญ้Ž–๏ผˆ็‚ญ็ด ๆ•ฐ4ใ€œ10๏ผ‰ใฎ็›ด้Ž–ใฎ่„‚่‚ช้…ธใ‚’ไปฃ่ฌใ™ใ‚‹MCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚3ใ€œ4ๆญณไปฅไธ‹ใฎใ€ๆ€ฅๆ€ง็™บ็—‡ใพใงใฏไฝ•ใ‚‰็‰นๅพด็š„ๆ‰€่ฆ‹ใ‚„ๆ—ขๅพ€ใ‚’ใ‚‚ใŸใชใ„ๅฐๅ…ใŒใ€ๆ„ŸๆŸ“ใ‚„้ฃข้ค“ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜/ใƒฉใ‚คๆง˜็—‡ๅ€™็พคๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ„ใฃใŸใ‚“็™บ็—‡ใ™ใ‚‹ใจๆญปไบก็Ž‡ใŒ้ซ˜ใใ€ไนณๅนผๅ…็ช็„ถๆญป็—‡ๅ€™็พค๏ผˆSIDS๏ผ‰ใฎไธ€ๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚Œใ‚Œใฐใ€้ฃข้ค“ใ‚’้ฟใ‘ใ‚‹้ฃŸไบ‹ๆŒ‡ๅฐŽใงใปใผๅฎŒๅ…จใซ็™บ็—‡ไบˆ้˜ฒใŒใงใใ‚‹ใ€‚"@ja ; - terms:identifier "2200513" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆMCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚ไธญ้Ž–๏ผˆ็‚ญ็ด ๆ•ฐ4ใ€œ10๏ผ‰ใฎ็›ด้Ž–ใฎ่„‚่‚ช้…ธใ‚’ไปฃ่ฌใ™ใ‚‹MCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚3ใ€œ4ๆญณไปฅไธ‹ใฎใ€ๆ€ฅๆ€ง็™บ็—‡ใพใงใฏไฝ•ใ‚‰็‰นๅพด็š„ๆ‰€่ฆ‹ใ‚„ๆ—ขๅพ€ใ‚’ใ‚‚ใŸใชใ„ๅฐๅ…ใŒใ€ๆ„ŸๆŸ“ใ‚„้ฃข้ค“ใ‚’ๅฅ‘ๆฉŸใซๆ€ฅๆ€ง่„ณ็—‡ๆง˜/ใƒฉใ‚คๆง˜็—‡ๅ€™็พคๆง˜ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ„ใฃใŸใ‚“็™บ็—‡ใ™ใ‚‹ใจๆญปไบก็Ž‡ใŒ้ซ˜ใใ€ไนณๅนผๅ…็ช็„ถๆญป็—‡ๅ€™็พค๏ผˆSIDS๏ผ‰ใฎไธ€ๅ› ใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚Œใ‚Œใฐใ€้ฃข้ค“ใ‚’้ฟใ‘ใ‚‹้ฃŸไบ‹ๆŒ‡ๅฐŽใงใปใผๅฎŒๅ…จใซ็™บ็—‡ไบˆ้˜ฒใŒใงใใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200513" ; + dcterms:source ; a owl:Class ; - rdfs:label "Medium-chain acyl-CoA dehydrogenase deficiency"@en, "ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Medium-chain acyl-CoA dehydrogenase deficiency"@en, "ใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008721 ; + rdfs:subClassOf ; + skos:altLabel "MCAD deficiency"@en ; + skos:closeMatch obo:MONDO_0008721 ; skos:prefLabel "ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200514 - :hasNotificationNumber "47" ; - terms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎฮฒ้…ธๅŒ–ใ‚’่งฆๅช’ใ™ใ‚‹SCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚่ก€ไธญใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4ใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใจๅฐฟไธญใ‚จใƒใƒซใƒžใƒญใƒณ้…ธใฎๅข—ๅŠ ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€œไนณๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใงๆ€ฅๆ€ง็™บ็—‡ใ—ใŸๆœฌ็–พๆ‚ฃๆ‚ฃๅ…ใฎSCADๆฎ‹ๅญ˜้…ต็ด ๆดปๆ€งใฏ40ใ€œ60%ใงใ‚ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ๅ˜็‹ฌใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใฎใงใฏใชใใ€SCAD่›‹็™ฝใฎใƒŸใ‚นใƒ•ใ‚ฉใƒผใƒซใƒ‡ใ‚ฃใƒณใ‚ฐใฎๅฝฑ้Ÿฟใ€ไป–ใฎ้บไผๅ› ๅญใ‚„็’ฐๅขƒๅ› ๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใชใฉใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใงใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็—‡ไพ‹ใงใฏใ€้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚„้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใฆใ‚‚ๅคง้ƒจๅˆ†ใŒ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใŸใ‚ใ€ใ‚ใŒๅ›ฝใงใฏใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "2200514" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCAD๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใ‚ขใ‚ทใƒซCoAใฎไธญใงใ‚‚็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎฮฒ้…ธๅŒ–ใ‚’่งฆๅช’ใ™ใ‚‹SCADใฎๆฌ ๆใงใ‚ใ‚‹ใ€‚่ก€ไธญใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4ใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใจๅฐฟไธญใ‚จใƒใƒซใƒžใƒญใƒณ้…ธใฎๅข—ๅŠ ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ€œไนณๅ…ๆœŸใซไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจ็ญ‹็ทŠๅผตไฝŽไธ‹ใงๆ€ฅๆ€ง็™บ็—‡ใ—ใŸๆœฌ็–พๆ‚ฃๆ‚ฃๅ…ใฎSCADๆฎ‹ๅญ˜้…ต็ด ๆดปๆ€งใฏ40ใ€œ60%ใงใ‚ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ๅ˜็‹ฌใงๆ€ฅๆ€ง็™บ็—‡ใ™ใ‚‹ใฎใงใฏใชใใ€SCAD่›‹็™ฝใฎใƒŸใ‚นใƒ•ใ‚ฉใƒผใƒซใƒ‡ใ‚ฃใƒณใ‚ฐใฎๅฝฑ้Ÿฟใ€ไป–ใฎ้บไผๅ› ๅญใ‚„็’ฐๅขƒๅ› ๅญใŒ้–ขไธŽใ—ใฆใ„ใ‚‹ๅฏ่ƒฝๆ€งใชใฉใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€ๆ–นใงใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ•ใ‚ŒใŸ็—‡ไพ‹ใงใฏใ€้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚„้บไผๅญ็•ฐๅธธใ‚’่ชใ‚ใฆใ‚‚ๅคง้ƒจๅˆ†ใŒ็„ก็—‡็Šถใง็ตŒ้Žใ™ใ‚‹ใŸใ‚ใ€ใ‚ใŒๅ›ฝใงใฏใ‚ฟใƒณใƒ‡ใƒ ใƒžใ‚นใ‚’็”จใ„ใŸๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200514" ; + dcterms:source ; a owl:Class ; - rdfs:label "Short-chain acyl-CoA dehydrogenase deficiency"@en, "็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Short-chain acyl-CoA dehydrogenase deficiency"@en, "ใŸใ‚“ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008722 ; + rdfs:subClassOf ; + skos:altLabel "SCAD deficiency"@en ; + skos:closeMatch obo:MONDO_0008722 ; skos:prefLabel "็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200515 - :hasNotificationNumber "44" ; - terms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธ‰้ ญ้…ต็ด ๏ผˆTFP๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ—ใ€ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆVLCAD๏ผ‰ใซๅผ•ใ็ถšใ„ใฆ็‚ญ็ด ้Ž–16ใ€œ12ไป˜่ฟ‘ใฎ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’่กŒใ†ใ€้•ท้Ž–ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆLCEH๏ผ‰ใ€้•ท้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆLCHAD๏ผ‰ใ€้•ท้Ž–3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆLCKT๏ผ‰ใฎ3ใคใฎใƒ‰ใƒกใ‚คใƒณใ‚’ใ‚‚ใค้…ต็ด ่›‹็™ฝใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰3ใคใฎ้…ต็ด ๆดปๆ€งใŒใ™ในใฆๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’TFPๆฌ ๆ็—‡ใ€LCHADๆดปๆ€งใฎใฟๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’LCHADๆฌ ๆ็—‡ใจใ‚ˆใถใ€‚ใ‚ใŒๅ›ฝใงใฏTFPๆฌ ๆ็—‡ใฎๅ ฑๅ‘ŠใŒๅคšใใ€LCHADๆฌ ๆ็—‡ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚"@ja ; - terms:identifier "2200515" ; - terms:source ; - a owl:Class ; - rdfs:label "Trifunctional protein deficiency"@en, "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012172 ; + + nando:hasNotificationNumber "44" ; + dcterms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚ไธ‰้ ญ้…ต็ด ๏ผˆTFP๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ—ใ€ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆVLCAD๏ผ‰ใซๅผ•ใ็ถšใ„ใฆ็‚ญ็ด ้Ž–16ใ€œ12ไป˜่ฟ‘ใฎ้•ท้Ž–่„‚่‚ช้…ธใฎฮฒ้…ธๅŒ–ใ‚’่กŒใ†ใ€้•ท้Ž–ใ‚จใƒŽใ‚คใƒซCoAใƒ’ใƒ‰ใƒฉใ‚ฟใƒผใ‚ผ๏ผˆLCEH๏ผ‰ใ€้•ท้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆLCHAD๏ผ‰ใ€้•ท้Ž–3-ใ‚ฑใƒˆใ‚ขใ‚ทใƒซCoAใƒใ‚ชใƒฉใƒผใ‚ผ๏ผˆLCKT๏ผ‰ใฎ3ใคใฎใƒ‰ใƒกใ‚คใƒณใ‚’ใ‚‚ใค้…ต็ด ่›‹็™ฝใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰3ใคใฎ้…ต็ด ๆดปๆ€งใŒใ™ในใฆๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’TFPๆฌ ๆ็—‡ใ€LCHADๆดปๆ€งใฎใฟๆฌ ๅฆ‚ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ‚’LCHADๆฌ ๆ็—‡ใจใ‚ˆใถใ€‚ใ‚ใŒๅ›ฝใงใฏTFPๆฌ ๆ็—‡ใฎๅ ฑๅ‘ŠใŒๅคšใใ€LCHADๆฌ ๆ็—‡ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200515" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Trifunctional protein deficiency"@en, "ใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "TFP deficiency"@en, "mitochondrial trifunctional protein deficiency"@en ; + skos:closeMatch obo:MONDO_0012172 ; skos:prefLabel "ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200516 - :hasNotificationNumber "45" ; - terms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (3-hydroxy acyl-CoA dehydrogenase ๏ผšHADH)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไป–ใฎฮฒ้…ธๅŒ–้…ต็ด ็พคใจๅ”ๅƒใ—ใฆไธญใƒป็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎไปฃ่ฌใ‚’ๆ‹…ๅฝ“ใ—ใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏ็Ÿญ้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCHAD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใฆใ„ใŸใ€‚HADHๆฌ ๆ็—‡ใฏใ€ไธญ้Ž–ใ€็Ÿญ้Ž–ใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoAใŒ่“„็ฉใ—ใ€่ก€ไธญ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4-OHใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใŒใŠใ‚‚ใซๅข—ๅŠ ใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณๆ€งไฝŽ่ก€็ณ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใฏใ€HADHใŒใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆGDH๏ผ‰ใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚Šใ€HADHๆฌ ๆ็—‡ใงใฏGDHๆดปๆ€งใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใจใชใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ปๅบฆใŒๆฅตใ‚ใฆไฝŽใใ€ๅฝ้™ฝๆ€ง็Ž‡ใŒ็›ธๅฏพ็š„ใซ้ซ˜ใ„ใŸใ‚ใ€็พๅœจใ€ใ‚ใŒๅ›ฝใงใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "2200516" ; - terms:source ; - a owl:Class ; - rdfs:label "3-hydroxy acyl-CoA dehydrogenase deficiency"@en, "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "45" ; + dcterms:description "็ดฐ่ƒžๅ†…ใซๅ–ใ‚Š่พผใพใ‚ŒใŸ้•ท้Ž–่„‚่‚ช้…ธใฏใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใง่„‚่‚ช้…ธใฎ็‚ญ็ด ้•ทใซๅฟœใ˜ใŸๅ„่„ฑๆฐด็ด ้…ต็ด ใง้ †ๆฌกไปฃ่ฌใ•ใ‚Œใ€1ใ‚นใƒ†ใƒƒใƒ—ใ”ใจใซ็‚ญ็ด ้Ž–ใŒ2ๅ€‹ใšใค็Ÿญใใชใฃใฆใ‚ขใ‚ปใƒใƒซCoAใซ่‡ณใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿใซๅฏ„ไธŽใ—ใฆใ„ใ‚‹ใ€‚3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด (3-hydroxy acyl-CoA dehydrogenase ๏ผšHADH)ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…่†œใซๅญ˜ๅœจใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ไป–ใฎฮฒ้…ธๅŒ–้…ต็ด ็พคใจๅ”ๅƒใ—ใฆไธญใƒป็Ÿญ้Ž–ใ‚ขใ‚ทใƒซCoAใฎไปฃ่ฌใ‚’ๆ‹…ๅฝ“ใ—ใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏ็Ÿญ้Ž–3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๏ผˆSCHAD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใฆใ„ใŸใ€‚HADHๆฌ ๆ็—‡ใฏใ€ไธญ้Ž–ใ€็Ÿญ้Ž–ใฎ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoAใŒ่“„็ฉใ—ใ€่ก€ไธญ3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒ–ใƒใƒชใƒซใ‚ซใƒซใƒ‹ใƒใƒณ๏ผˆC4-OHใ‚ซใƒซใƒ‹ใƒใƒณ๏ผ‰ใŒใŠใ‚‚ใซๅข—ๅŠ ใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏ้ซ˜ใ‚คใƒณใ‚นใƒชใƒณๆ€งไฝŽ่ก€็ณ–ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใฏใ€HADHใŒใ‚คใƒณใ‚นใƒชใƒณๅˆ†ๆณŒใ‚’่ชฟ็ฏ€ใ™ใ‚‹ใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๏ผˆGDH๏ผ‰ใ‚’ๆŠ‘ๅˆถใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆ‹…ใฃใฆใ„ใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚Šใ€HADHๆฌ ๆ็—‡ใงใฏGDHๆดปๆ€งใŒไบข้€ฒใ—ใŸ็Šถๆ…‹ใจใชใ‚Šใ€ใ‚คใƒณใ‚นใƒชใƒณ้Žๅˆ†ๆณŒใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚้ ปๅบฆใŒๆฅตใ‚ใฆไฝŽใใ€ๅฝ้™ฝๆ€ง็Ž‡ใŒ็›ธๅฏพ็š„ใซ้ซ˜ใ„ใŸใ‚ใ€็พๅœจใ€ใ‚ใŒๅ›ฝใงใฏๆ–ฐ็”Ÿๅ…ใƒžใ‚นใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใฎๅฏพ่ฑก็–พๆ‚ฃใจใฏใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200516" ; + dcterms:source ; + a owl:Class ; + rdfs:label "3-hydroxy acyl-CoA dehydrogenase deficiency"@en, "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja, "3ใฒใฉใ‚ใใ—ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HADH deficiency"@en ; + skos:closeMatch obo:MONDO_0009278 ; skos:prefLabel "3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200517 - :hasNotificationNumber "49" ; - terms:description "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่„‚่‚ช้…ธฮฒ้…ธๅŒ–ใซใ‚ˆใฃใฆ่„‚่‚ชใ‹ใ‚‰ใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ™้Ž็จ‹ใซ้–ขใ‚ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใ‚„้‹ๅ‹•ๆ™‚ใซใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚Šใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹40ใ€œ48ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่„‚่‚ช้…ธไปฃ่ฌใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200517" ; - terms:source ; + + nando:hasNotificationNumber "49" ; + dcterms:description "่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่„‚่‚ช้…ธฮฒ้…ธๅŒ–ใซใ‚ˆใฃใฆ่„‚่‚ชใ‹ใ‚‰ใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ™้Ž็จ‹ใซ้–ขใ‚ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใ‚„้‹ๅ‹•ๆ™‚ใซใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚Šใ€ๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹40ใ€œ48ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ่„‚่‚ช้…ธไปฃ่ฌใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200517" ; + dcterms:source ; a owl:Class ; - rdfs:label "40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of fatty-acid metabolism"@en ; + rdfs:label "40ใ‹ใ‚‰48ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใผใ†ใ•ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of fatty-acid metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "40ใ‹ใ‚‰48ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่‚ช้…ธไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200518 - :hasNotificationNumber "88" ; - terms:description "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“๏ผˆPDHC๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ—ใ€ๅซŒๆฐ—ๆ€ง่งฃ็ณ–็ณปใงใƒ–ใƒ‰ใ‚ฆ็ณ–ใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใƒ”ใƒซใƒ“ใƒณ้…ธใ‚’ใ‚ขใ‚ปใƒใƒซ-CoAใซๅค‰ๆ›ใ—ใฆTCAๅ›ž่ทฏใซ้€ใ‚Š่พผใ‚€ใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎใŸใ‚ใซ้žๅธธใซๅคงๅˆ‡ใช้…ต็ด ่ค‡ๅˆไฝ“ใงใ‚ใ‚‹๏ผˆๅ›ณ1๏ผ‰1)ใ€‚ๅพ“ใฃใฆๆœฌๆฌ ๆ็—‡ใงใฏใ‚ขใ‚ปใƒใƒซ-CoAไธ่ถณใซใ‚ˆใ‚ŠTCAใ‚ตใ‚คใ‚ฏใƒซใŒๅ›žใ‚‰ใชใใชใ‚Šใ€ใใฎ็ตๆžœใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใงใฎATP็”ฃ็”ŸใŒไฝŽไธ‹ใ—็ต„็น”ใƒป่‡“ๅ™จใŒใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚‹ใ€‚ใ•ใ‚‰ใซๅŸบ่ณชใงใ‚ใ‚‹ใƒ”ใƒซใƒ“ใƒณ้…ธใŒ่“„็ฉใ—ไนณ้…ธใซ่ปขๆ›ใ•ใ‚Œใ‚‹็ตๆžœใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใŒ็”Ÿใšใ‚‹ใ€‚ใคใพใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใจไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซใ‚ˆใ‚‹็ต„็น”้šœๅฎณใŒๆœฌ็—‡ใฎ็—…ๆ…‹ใงใ‚ใ‚‹2)ใ€‚"@ja ; - terms:identifier "2200518" ; - terms:source ; + + nando:hasNotificationNumber "87" ; + dcterms:description "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“๏ผˆPDHC๏ผ‰ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ—ใ€ๅซŒๆฐ—ๆ€ง่งฃ็ณ–็ณปใงใƒ–ใƒ‰ใ‚ฆ็ณ–ใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใƒ”ใƒซใƒ“ใƒณ้…ธใ‚’ใ‚ขใ‚ปใƒใƒซ-CoAใซๅค‰ๆ›ใ—ใฆTCAๅ›ž่ทฏใซ้€ใ‚Š่พผใ‚€ใ€ใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”ŸใฎใŸใ‚ใซ้žๅธธใซๅคงๅˆ‡ใช้…ต็ด ่ค‡ๅˆไฝ“ใงใ‚ใ‚‹๏ผˆๅ›ณ1๏ผ‰1)ใ€‚ๅพ“ใฃใฆๆœฌๆฌ ๆ็—‡ใงใฏใ‚ขใ‚ปใƒใƒซ-CoAไธ่ถณใซใ‚ˆใ‚ŠTCAใ‚ตใ‚คใ‚ฏใƒซใŒๅ›žใ‚‰ใชใใชใ‚Šใ€ใใฎ็ตๆžœใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใงใฎATP็”ฃ็”ŸใŒไฝŽไธ‹ใ—็ต„็น”ใƒป่‡“ๅ™จใŒใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใซ้™ฅใ‚‹ใ€‚ใ•ใ‚‰ใซๅŸบ่ณชใงใ‚ใ‚‹ใƒ”ใƒซใƒ“ใƒณ้…ธใŒ่“„็ฉใ—ไนณ้…ธใซ่ปขๆ›ใ•ใ‚Œใ‚‹็ตๆžœใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใŒ็”Ÿใšใ‚‹ใ€‚ใคใพใ‚Šใ€ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใจไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซใ‚ˆใ‚‹็ต„็น”้šœๅฎณใŒๆœฌ็—‡ใฎ็—…ๆ…‹ใงใ‚ใ‚‹2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200518" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pyruvate dehydrogenase complex deficiency"@en, "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010717, mondo:MONDO_0019169 ; + rdfs:label "Pyruvate dehydrogenase complex deficiency"@en, "ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ ใฃใ™ใ„ใใ“ใ†ใใตใใ”ใ†ใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019169 ; skos:prefLabel "ใƒ”ใƒซใƒ“ใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ่ค‡ๅˆไฝ“ๆฌ ๆ็—‡"@ja . -:2200519 - :hasNotificationNumber "87" ; - terms:description "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ๆฌ ๆ็—‡ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ™ใ‚‹็ณ–ๆ–ฐ็”Ÿ็ณปใฎๅพ‹้€Ÿ้…ต็ด ใงใ‚ใ‚Šใ€ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ—ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‹ใ‚‰ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’็”Ÿๆˆใ™ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰ใ€‚่‡จๅบŠ็—‡็Šถใ‚’ๅฝขไฝœใ‚‹ใฎใฏใ€ไฝŽ่ก€็ณ–ใจใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธไฝŽๅ€คใŒใ‚‚ใŸใ‚‰ใ™TCAๅ›ž่ทฏใฎไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใ€ใ•ใ‚‰ใซ้‡็—‡ไพ‹ใงใฏใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธ็”ฑๆฅใฎใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใฎไธ่ถณใซใ‚ˆใ‚‹ๅฐฟ็ด ๅ›ž่ทฏไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚‚ๅ•้กŒใซใชใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200519" ; - terms:source ; + + nando:hasNotificationNumber "86" ; + dcterms:description "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผ๏ผˆPC๏ผ‰ๆฌ ๆ็—‡ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ†…ใซๅญ˜ๅœจใ™ใ‚‹็ณ–ๆ–ฐ็”Ÿ็ณปใฎๅพ‹้€Ÿ้…ต็ด ใงใ‚ใ‚Šใ€ใƒ“ใ‚ชใƒใƒณใ‚’่ฃœ้…ต็ด ใจใ—ใ€ใƒ”ใƒซใƒ“ใƒณ้…ธใ‹ใ‚‰ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’็”Ÿๆˆใ™ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰ใ€‚่‡จๅบŠ็—‡็Šถใ‚’ๅฝขไฝœใ‚‹ใฎใฏใ€ไฝŽ่ก€็ณ–ใจใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธไฝŽๅ€คใŒใ‚‚ใŸใ‚‰ใ™TCAๅ›ž่ทฏใฎไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹ใ‚จใƒใƒซใ‚ฎใƒผไธ่ถณใ€ใ•ใ‚‰ใซ้‡็—‡ไพ‹ใงใฏใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธ็”ฑๆฅใฎใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้…ธใฎไธ่ถณใซใ‚ˆใ‚‹ๅฐฟ็ด ๅ›ž่ทฏไฝœๅ‹•ไธๅ…จใซใ‚ˆใ‚‹้ซ˜ใ‚ขใƒณใƒขใƒ‹ใ‚ข่ก€็—‡ใ‚‚ๅ•้กŒใซใชใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200519" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pyruvate carboxylase deficiency"@en, "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Pyruvate carboxylase deficiency"@en, "ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009949 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009949 ; skos:prefLabel "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200520 - :hasNotificationNumber "89" ; - terms:description "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ•ใƒžใƒซ้…ธใ‚’ใƒชใƒณใ‚ด้…ธใซๅค‰ๆ›ใ™ใ‚‹TCAๅ›ž่ทฏใฎไธป่ฆๆง‹ๆˆ้…ต็ด ใงใ‚ใ‚‹ใƒ•ใƒžใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰1)ใ€‚่„ณๅฅ‡ๅฝขใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใฎ้‡็ฏคใชไธญๆžข็ฅž็ตŒ็—‡็Šถใจใ€ใƒ•ใƒžใƒซ้…ธใฎๅฐฟไธญๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200520" ; - terms:source ; + + nando:hasNotificationNumber "88" ; + dcterms:description "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ•ใƒžใƒซ้…ธใ‚’ใƒชใƒณใ‚ด้…ธใซๅค‰ๆ›ใ™ใ‚‹TCAๅ›ž่ทฏใฎไธป่ฆๆง‹ๆˆ้…ต็ด ใงใ‚ใ‚‹ใƒ•ใƒžใƒฉใƒผใ‚ผใฎ้บไผ็š„ๆฌ ๆใซๅŸบใฅใๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผˆPDHCใฎ้ …ใฎๅ›ณๅ‚็…ง๏ผ‰1)ใ€‚่„ณๅฅ‡ๅฝขใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ใ‘ใ„ใ‚Œใ‚“ใชใฉใฎ้‡็ฏคใชไธญๆžข็ฅž็ตŒ็—‡็Šถใจใ€ใƒ•ใƒžใƒซ้…ธใฎๅฐฟไธญๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200520" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fumarase deficiency"@en, "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Fumarase deficiency"@en, "ใตใพใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011730 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011730 ; skos:prefLabel "ใƒ•ใƒžใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200521 - :hasNotificationNumber "86" ; - terms:description "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผ๏ผˆSUCL๏ผ‰ๆฌ ๆ็—‡ใฏใ€TCAใ‚ตใ‚คใ‚ฏใƒซใฎไธ€ๅ› ใงใ‚‚ใ‚ใ‚‹SUCLใฎๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธใจใƒกใƒใƒซใƒžใƒญใƒณ้…ธใฎๅฐฟไธญใธใฎๅฐ‘้‡ๆŽ’ๆณ„ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ1)ใงใ‚ใ‚Šใ€ๅคใใฏใƒกใƒใƒซใƒžใƒญใƒณ้…ธๅฐฟใ‚’ไผดใ†Leigh่„ณ็—‡ใจใ‚ˆใฐใ‚Œใฆใ„ใŸ็–พ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200521" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:description "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผ๏ผˆSUCL๏ผ‰ๆฌ ๆ็—‡ใฏใ€TCAใ‚ตใ‚คใ‚ฏใƒซใฎไธ€ๅ› ใงใ‚‚ใ‚ใ‚‹SUCLใฎๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–็•ฐๅธธใจใƒกใƒใƒซใƒžใƒญใƒณ้…ธใฎๅฐฟไธญใธใฎๅฐ‘้‡ๆŽ’ๆณ„ใ‚’ไผดใ†ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃ1)ใงใ‚ใ‚Šใ€ๅคใใฏใƒกใƒใƒซใƒžใƒญใƒณ้…ธๅฐฟใ‚’ไผดใ†Leigh่„ณ็—‡ใจใ‚ˆใฐใ‚Œใฆใ„ใŸ็–พ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200521" ; + dcterms:source ; a owl:Class ; - rdfs:label "Succinyl-CoA ligase deficiency"@en, "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Succinyl-CoA ligase deficiency"@en, "ใ™ใใ—ใซใ‚‹ใ“ใˆใƒผใ‚ŠใŒใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ใ‚นใ‚ฏใ‚ทใƒ‹ใƒซ-CoAใƒชใ‚ฌใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200522 - :hasNotificationNumber "90" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅฝนๅ‰ฒใฏๅคšๆ•ฐใ‚ใ‚‹ใŒใ€ๆœ€ใ‚‚ๅคงๅˆ‡ใชใฎใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚Šใ€ใใฎๅฝนๅ‰ฒใ‚’ๆ‹…ใ†ใฎใŒๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ใ€ŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“็•ฐๅธธ็—‡๏ผˆMRCD๏ผ‰ใ€ใจ่ชญใฟๆ›ฟใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ใ„ใ‹ใชใ‚‹็—‡็Šถใ€ใ„ใ‹ใชใ‚‹่‡“ๅ™จใƒป็ต„็น”ใ€ใ„ใ‹ใชใ‚‹ๅนด้ฝขใ€ใใ—ใฆใ„ใ‹ใชใ‚‹้บไผๅฝขๅผใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใฎใŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ็ฅž็ตŒใƒป็ญ‹่‚‰ใฎ็—…ๆฐ—ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅฟƒ็ญ‹็—‡ใ€่‚็—‡ใชใฉๅ˜็‹ฌใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ‚‚ๅคšใ„1)ใ€‚"@ja ; - terms:identifier "2200522" ; - terms:source ; + + nando:hasNotificationNumber "89" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅฝนๅ‰ฒใฏๅคšๆ•ฐใ‚ใ‚‹ใŒใ€ๆœ€ใ‚‚ๅคงๅˆ‡ใชใฎใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚Šใ€ใใฎๅฝนๅ‰ฒใ‚’ๆ‹…ใ†ใฎใŒๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ใงใ‚ใ‚‹ใ€‚ใ—ใŸใŒใฃใฆใ€ใ€ŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“็•ฐๅธธ็—‡๏ผˆMRCD๏ผ‰ใ€ใจ่ชญใฟๆ›ฟใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚ใ„ใ‹ใชใ‚‹็—‡็Šถใ€ใ„ใ‹ใชใ‚‹่‡“ๅ™จใƒป็ต„็น”ใ€ใ„ใ‹ใชใ‚‹ๅนด้ฝขใ€ใใ—ใฆใ„ใ‹ใชใ‚‹้บไผๅฝขๅผใงใ‚‚็™บ็—…ใ—ใ†ใ‚‹ใฎใŒใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅ็ฅž็ตŒใƒป็ญ‹่‚‰ใฎ็—…ๆฐ—ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅฟƒ็ญ‹็—‡ใ€่‚็—‡ใชใฉๅ˜็‹ฌใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใ‚‚ๅคšใ„1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200522" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mitochondrial respiratory chain disorders"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡"@ja ; + rdfs:label "Mitochondrial respiratory chain disorders"@en, "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใ“ใใ‚…ใ†ใ•ใตใใ”ใ†ใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017718 ; skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขๅ‘ผๅธ้Ž–่ค‡ๅˆไฝ“ๆฌ ๆ็—‡"@ja . -:2200523 - :hasNotificationNumber "92" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA๏ผˆmtDNA๏ผ‰้‡ใŒไฝ•ใ‹ใฎๅŽŸๅ› ใงๆธ›ๅฐ‘ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใŒ้˜ปๅฎณใ•ใ‚ŒๆฉŸ่ƒฝ้šœๅฎณใฎ่ตทใ“ใ‚‹็–พๆ‚ฃ็พคใ‚’็ท็งฐใ—ใฆmtDNAๆžฏๆธ‡็—‡ๅ€™็พค๏ผšmitochondrial DNA depletion syndrome (MTDPS)ใจ็งฐใ™ใ‚‹ใ€‚ไธ€ๆฌก็š„็—…ๅ› ใฏๆ ธใซใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚Šใ€ใใฎ็ตๆžœใจใ—ใฆไบŒๆฌก็š„ใซmtDNA้‡ใฎๆžฏๆธ‡ใ‚’ไธญๅฟƒใซใ€ๆ™‚ใซๅคš้‡ๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใฎๆง˜ใช็•ฐๅธธใ‚’ใ‚‚ๆฅใŸใ™็–พๆ‚ฃ็พคใงใ€ๆ ธDNAใจmtDNAใฎใ‚ฒใƒŽใƒ ้–“ใ‚ณใƒŸใƒฅใƒ‹ใ‚ฑใƒผใ‚ทใƒงใƒณใฎ้šœๅฎณ๏ผˆdefects in intergenomic communication๏ผ‰ใจ่จ€ใ†ๆฆ‚ๅฟตใงใจใ‚‰ใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚"@ja ; - terms:identifier "2200523" ; - terms:source ; + + nando:hasNotificationNumber "91" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA๏ผˆmtDNA๏ผ‰้‡ใŒไฝ•ใ‹ใฎๅŽŸๅ› ใงๆธ›ๅฐ‘ใ—ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใŒ้˜ปๅฎณใ•ใ‚ŒๆฉŸ่ƒฝ้šœๅฎณใฎ่ตทใ“ใ‚‹็–พๆ‚ฃ็พคใ‚’็ท็งฐใ—ใฆmtDNAๆžฏๆธ‡็—‡ๅ€™็พค๏ผšmitochondrial DNA depletion syndrome (MTDPS)ใจ็งฐใ™ใ‚‹ใ€‚ไธ€ๆฌก็š„็—…ๅ› ใฏๆ ธใซใ‚ณใƒผใƒ‰ใ•ใ‚Œใ‚‹้บไผๅญใฎ็•ฐๅธธใงใ‚ใ‚Šใ€ใใฎ็ตๆžœใจใ—ใฆไบŒๆฌก็š„ใซmtDNA้‡ใฎๆžฏๆธ‡ใ‚’ไธญๅฟƒใซใ€ๆ™‚ใซๅคš้‡ๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใฎๆง˜ใช็•ฐๅธธใ‚’ใ‚‚ๆฅใŸใ™็–พๆ‚ฃ็พคใงใ€ๆ ธDNAใจmtDNAใฎใ‚ฒใƒŽใƒ ้–“ใ‚ณใƒŸใƒฅใƒ‹ใ‚ฑใƒผใ‚ทใƒงใƒณใฎ้šœๅฎณ๏ผˆdefects in intergenomic communication๏ผ‰ใจ่จ€ใ†ๆฆ‚ๅฟตใงใจใ‚‰ใˆใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200523" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mitochondrial DNA depletion syndrome"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018158 ; + rdfs:label "Mitochondrial DNA depletion syndrome"@en, "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใ“ใ‹ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018158 ; skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆžฏๆธ‡็—‡ๅ€™็พค"@ja . -:2200524 - :hasNotificationNumber "93" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚"@ja ; - terms:identifier "2200524" ; - terms:source ; + + nando:hasNotificationNumber "92" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200524" ; + dcterms:source ; a owl:Class ; - rdfs:label "Diseases due to mitochondrial DNA mutation"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ"@ja ; + rdfs:label "Diseases due to mitochondrial DNA mutation"@en, "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใจใคใœใ‚“ใธใ‚“ใ„"@ja-Hira, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016793 ; skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNA็ช็„ถๅค‰็•ฐ"@ja . -:2200525 - :hasNotificationNumber "93" ; - terms:identifier "2200525" ; - terms:source ; + + nando:hasNotificationNumber "92" ; + dcterms:identifier "NANDO:2200525" ; + dcterms:source ; a owl:Class ; - rdfs:label "MELAS"@ja, "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)"@en ; + rdfs:label "MELAS"@ja, "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)"@en, "ใ‚ใ‚‰ใ™"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡"@ja ; - skos:closeMatch mondo:MONDO_0010789 ; + rdfs:subClassOf ; + skos:altLabel "MELAS"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒปไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใƒป่„ณๅ’ไธญๆง˜็™บไฝœ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010789 ; skos:prefLabel "MELAS"@ja . -:2200526 - :hasNotificationNumber "93" ; - terms:identifier "2200526" ; - terms:source ; + + nando:hasNotificationNumber "92" ; + dcterms:identifier "NANDO:2200526" ; + dcterms:source ; a owl:Class ; - rdfs:label "MERRF"@ja, "Myoclonus epilepsy associated with ragged-red fibers"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡"@ja ; - skos:prefLabel "MERRF"@ja . + rdfs:label "Myoclonus epilepsy associated with ragged-red fibers"@en, "ใ›ใใ—ใ‚‡ใใผใ‚ใ›ใ‚“ใ„ใƒปใฟใŠใใ‚ใƒผใฌใ™ใฆใ‚“ใ‹ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "MERRF"@en, "MERRF"@ja, "Myoclonic epilepsy associated with ragged-red fibers"@en ; + skos:closeMatch obo:MONDO_0010790 ; + skos:prefLabel "่ตค่‰ฒใผใ‚็ทš็ถญใƒปใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค"@ja . -:2200527 - :hasNotificationNumber "93" ; - terms:identifier "2200527" ; - terms:source ; + + nando:hasNotificationNumber "92" ; + dcterms:identifier "NANDO:2200527" ; + dcterms:source ; a owl:Class ; - rdfs:label "Leigh disease"@en, "ใƒชใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:label "Leigh syndrome"@en, "ใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒชใƒผ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009723 ; + rdfs:subClassOf ; + skos:altLabel "Leigh็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009723 ; skos:prefLabel "ใƒชใƒผ็—‡ๅ€™็พค"@ja . -:2200528 - :hasNotificationNumber "91" ; - terms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚"@ja ; - terms:identifier "2200528" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:description "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏใปใจใ‚“ใฉๅ…จใฆใฎ็ดฐ่ƒžใซๅญ˜ๅœจใ™ใ‚‹็ดฐ่ƒžๅ†…ๅฐๅ™จๅฎ˜ใงใ‚ใ‚Šใ€ใใฎๆœ€ๅคงใฎๅฝนๅ‰ฒใฏใ‚จใƒใƒซใ‚ฎใƒผ๏ผˆATP๏ผ‰ใฎ็”Ÿๅˆๆˆใงใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฎๅƒใใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใŒๅŽŸๅ› ใง่ตทใ“ใ‚‹็—…ๆฐ—ใ‚’็ท็งฐใ—ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใจๅ‘ผใณใ€็—…ๆฐ—ใฎไธปๅบงใŒใฉใ“ใงใ‚ใ‚‹ใ‹ใซใ‚ˆใ‚ŠใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡ใƒป่‚็—‡ใƒปๅฟƒ็ญ‹็—‡ใชใฉใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ๅ…จใฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใงๅ…จ่บซใฎ็—‡็ŠถใŒ็™บ็พใ™ใ‚‹ๅฑ้™บใŒใ‚ใ‚‹ใ€‚ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎ็—‡็Šถใฎๅคšใใฏใ‚จใƒใƒซใ‚ฎใƒผ็”ฃ็”Ÿไธ่ถณใซ่ตทๅ› ใ™ใ‚‹ใฎใงใ‚จใƒใƒซใ‚ฎใƒผใ‚’ๅคง้‡ใซๅฟ…่ฆใจใ™ใ‚‹่‡“ๅ™จใƒป็ต„็น”ใซ็—‡็ŠถใŒ็พใ‚Œใ‚„ใ™ใใ€็‰นใซๅนผๅฐๅ…ๆœŸใซใฏใ€โ‘ ่„ณ็ญ‹็—‡็ŠถใซๅŠ ใˆใฆใ€โ‘กๆถˆๅŒ–ๅ™จใƒป่‚็—‡็Šถใ€โ‘ขๅฟƒ็ญ‹็—‡็ŠถใŒ3ๅคง็—‡็Šถใจใ•ใ‚Œใ‚‹ใ€‚ๅพ“ๆฅใ‹ใ‚‰ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใฎไธญๅฟƒ็š„ๅญ˜ๅœจใงใ‚ใฃใŸใ€ใ„ใ‚ใ‚†ใ‚‹โ€˜ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข่„ณ็ญ‹็—‡โ€™ใฏใ€ๆฏ”่ผƒ็š„่ปฝ็—‡ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใซๅฑžใ—ใ€ๅนด้•ทใƒปๆˆไบบ็™บ็—‡ไพ‹ใซๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200528" ; + dcterms:source ; a owl:Class ; - rdfs:label "Diseases due to mitochondrial DNA deletion"@en, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ"@ja ; + rdfs:label "Diseases due to mitochondrial DNA deletion"@en, "ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใงใƒใƒผใˆใฌใˆใƒผใ‘ใฃใ—ใค"@ja-Hira, "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018158 ; skos:prefLabel "ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAๆฌ ๅคฑ"@ja . -:2200529 - :hasNotificationNumber "91" ; - terms:identifier "2200529" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:identifier "NANDO:2200529" ; + dcterms:source ; a owl:Class ; - rdfs:label "Kearns-Sayreย syndrome"@en, "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010787 ; + rdfs:label "Kearns-Sayre syndrome"@en, "ใ‹ใƒผใ‚“ใšใƒปใ›ใ„ใ‚„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Kearns-Sayre็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010787 ; skos:prefLabel "ใ‚ซใƒผใƒณใ‚บใƒปใ‚ปใ‚คใƒคใƒผ็—‡ๅ€™็พค"@ja . -:2200530 - :hasNotificationNumber "94" ; - terms:description "ไธ€ใคใฎ็ดฐ่ƒžใซๆ•ฐ็™พๅ€‹ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใŒๅ…ฅใฃใฆใ„ใฆใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏ็ดฐ่ƒžใซๅฟ…่ฆใชใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใจ็ดฐ่ƒžใฎๅƒใใŒๆ‚ชใใชใ‚Šใ€ใ•ใพใ–ใพใช็—‡็ŠถใŒ็พใ‚Œใ‚‹ใ€‚ไฝ“ใฎใฉใ“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ‹ใซใ‚ˆใฃใฆ็—‡็Šถใฏ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹50ใ€œ57ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนดๆ–ฐ่ฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใŒๆฌกใ€…ใซ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใฎใ‚‚ไบ‹ๅฎŸใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200530" ; - terms:source ; + + nando:hasNotificationNumber "93" ; + dcterms:description "ไธ€ใคใฎ็ดฐ่ƒžใซๆ•ฐ็™พๅ€‹ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใŒๅ…ฅใฃใฆใ„ใฆใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใฏ็ดฐ่ƒžใซๅฟ…่ฆใชใ‚จใƒใƒซใ‚ฎใƒผใ‚’ไฝœใ‚Šๅ‡บใ—ใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใจ็ดฐ่ƒžใฎๅƒใใŒๆ‚ชใใชใ‚Šใ€ใ•ใพใ–ใพใช็—‡็ŠถใŒ็พใ‚Œใ‚‹ใ€‚ไฝ“ใฎใฉใ“ใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ‹ใซใ‚ˆใฃใฆ็—‡็Šถใฏ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹50ใ€œ57ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€่ฟ‘ๅนดๆ–ฐ่ฆใฎใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…ใŒๆฌกใ€…ใซ็™บ่ฆ‹ใ•ใ‚Œใฆใ„ใ‚‹ใฎใ‚‚ไบ‹ๅฎŸใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200530" ; + dcterms:source ; a owl:Class ; - rdfs:label "50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja, "Other mitochondrial diseases"@en ; + rdfs:label "50ใ‹ใ‚‰57ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฟใจใ“ใ‚“ใฉใ‚Šใ‚ใณใ‚‡ใ†"@ja-Hira, "50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja, "Other mitochondrial diseases"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "50ใ‹ใ‚‰57ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ข็—…"@ja . -:2200531 - :hasNotificationNumber "58" ; - terms:description "ๆžœ็ณ–ใƒป่”—็ณ–็ญ‰ใ‚’ๅซใ‚€้ฃŸๅ“ๆ‘‚ๅ–ๅพŒใ€็Ÿญๆ™‚้–“ใงๅ‡บ็พใ™ใ‚‹ไฝŽ่ก€็ณ–ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ๏ผˆOMIM #22960๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏ้›ขไนณ้ฃŸๅฐŽๅ…ฅ้ ƒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‚่…Ž็ต„็น”้šœๅฎณใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ—ใฆ่‡ดๆญป็š„ใจใชใ‚Šใ†ใ‚‹ใŒใ€ๅŽŸๅ› ็ณ–่ณชใฎ้™คๅŽป้ฃŸใซใ‚ˆใฃใฆ่ปฝๅฟซใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200531" ; - terms:source ; + + nando:hasNotificationNumber "57" ; + dcterms:description "ๆžœ็ณ–ใƒป่”—็ณ–็ญ‰ใ‚’ๅซใ‚€้ฃŸๅ“ๆ‘‚ๅ–ๅพŒใ€็Ÿญๆ™‚้–“ใงๅ‡บ็พใ™ใ‚‹ไฝŽ่ก€็ณ–ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ๏ผˆOMIM #22960๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏ้›ขไนณ้ฃŸๅฐŽๅ…ฅ้ ƒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‚่…Ž็ต„็น”้šœๅฎณใŒๆ€ฅ้€Ÿใซ้€ฒ่กŒใ—ใฆ่‡ดๆญป็š„ใจใชใ‚Šใ†ใ‚‹ใŒใ€ๅŽŸๅ› ็ณ–่ณชใฎ้™คๅŽป้ฃŸใซใ‚ˆใฃใฆ่ปฝๅฟซใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200531" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary fructose intolerance"@en, "้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡"@ja ; + rdfs:label "Hereditary fructose intolerance"@en, "ใ„ใงใ‚“ใ›ใ„ใตใ‚‹ใใจใƒผใ™ใตใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "HFI"@en ; - skos:closeMatch mondo:MONDO_0009249 ; + skos:closeMatch obo:MONDO_0009249 ; skos:prefLabel "้บไผๆ€งใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚นไธ่€็—‡"@ja . -:2200532 - :hasNotificationNumber "60" ; - terms:description "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใงใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใŒ็”Ÿใ˜ใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜็จฎใ€…ใฎ้šœๅฎณใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚"@ja ; - terms:identifier "2200532" ; - terms:source ; + + nando:hasNotificationNumber "59" ; + dcterms:description "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใงใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใŒ็”Ÿใ˜ใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜็จฎใ€…ใฎ้šœๅฎณใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200532" ; + dcterms:source ; a owl:Class ; - rdfs:label "Galactose-1-phosphate uridyltransferase deficiency"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009258 ; + rdfs:label "Galactose-1-phosphate uridyltransferase deficiency"@en, "ใŒใ‚‰ใใจใƒผใ™1ใ‚Šใ‚“ใ•ใ‚“ใ†ใ‚Šใ˜ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GALT deficiency"@en, "Galactose-1-phosphate uridylyltransferase deficiency"@en, "Galactosemia type 1"@en ; + skos:closeMatch obo:MONDO_0009258 ; skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200533 - :hasNotificationNumber "61" ; - terms:description "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฎ่“„็ฉใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚"@ja ; - terms:identifier "2200533" ; - terms:source ; + + nando:hasNotificationNumber "60" ; + dcterms:description "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใซๅ…ˆๅคฉ็š„ใช้…ต็ด ๆฌ ๆใ€ๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฎ่“„็ฉใ‚’ใใŸใ™๏ผ‘๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200533" ; + dcterms:source ; a owl:Class ; - rdfs:label "Galactokinase deficiency"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Galactokinase deficiency"@en, "ใŒใ‚‰ใใจใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009255 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009255 ; skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200534 - :hasNotificationNumber "59" ; - terms:description "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š็”Ÿๆˆใ—ใŸ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผฅ๏ผ‰ใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-๏ผ”-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚ŒใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹ใŒใ€ๅคšใใฏๅ…จ่บซ็—‡็Šถใ‚’็คบใ•ใชใ„้ƒจๅˆ†ๅž‹ใงไบˆๅพŒ่‰ฏๅฅฝใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚"@ja ; - terms:identifier "2200534" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:description "ไนณ็ณ–ใฏไนณ่ฃฝๅ“ใซๅซใพใ‚Œใ‚‹ไธป่ฆใช็ณ–ใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅ…ๆœŸใซใŠใ‘ใ‚‹ไธป่ฆใชใ‚จใƒใƒซใ‚ฎใƒผๆบใงใ‚ใ‚‹ใ€‚ไนณ็ณ–ใฏๅฐ่…ธไธŠ็šฎใงใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ•ใ‚ŒๅธๅŽใ•ใ‚Œใ‚‹ใŒใ€ใ“ใฎๅธๅŽใ•ใ‚ŒใŸใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ่‚็ดฐ่ƒžใซใฆใ‚ฌใƒฉใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผซ๏ผ‰ใซใ‚ˆใ‚Šใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใจใชใฃใŸใฎใกใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-1-ใƒชใƒณ้…ธใ‚ฆใƒชใ‚ธใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผด๏ผ‰ใฎ่งฆๅช’ใงใ€๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใจใฎ่ปข็งปๅๅฟœใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใจใ‚ฐใƒซใ‚ณใƒผใ‚น-1-ใƒชใƒณ้…ธใธใจไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใซใ‚ˆใ‚Š็”Ÿๆˆใ—ใŸ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใฏ๏ผต๏ผค๏ผฐใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผ๏ผˆ๏ผง๏ผก๏ผฌ๏ผฅ๏ผ‰ใซใ‚ˆใ‚Š๏ผต๏ผค๏ผฐ๏ผใ‚ฐใƒซใ‚ณใƒผใ‚นใธใจๅค‰ๆ›ใ•ใ‚Œใ‚‹ใ€‚ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-๏ผ”-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ“ใฎ็ตŒ่ทฏใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚ŒใฆใŠใ‚Šใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นโ€1โ€ใƒชใƒณ้…ธใฎ่“„็ฉใŒ็”Ÿใ˜ใ‚‹ใŒใ€ๅคšใใฏๅ…จ่บซ็—‡็Šถใ‚’็คบใ•ใชใ„้ƒจๅˆ†ๅž‹ใงไบˆๅพŒ่‰ฏๅฅฝใงใ‚ใ‚‹๏ผ‘๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200534" ; + dcterms:source ; a owl:Class ; - rdfs:label "UDP-galactose-4-epimerase deficiency"@en, "ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "UDP-galactose-4-epimerase deficiency"@en, "ใ†ใ‚Šใ˜ใ‚‹ใซใ‚Šใ‚“ใ•ใ‚“ใŒใ‚‰ใใจใƒผใ™4ใˆใดใ‚ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009257 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009257 ; skos:prefLabel "ใ‚ฆใƒชใ‚ธใƒซไบŒใƒชใƒณ้…ธใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น-4-ใ‚จใƒ”ใƒกใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200535 - :hasNotificationNumber "71" ; - terms:description "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆFBPase๏ผ‰ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ใฎ็ณ–ๆ–ฐ็”ŸใซใŠใ„ใฆใ€ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ไบŒใƒชใƒณ้…ธใ‹ใ‚‰ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-6-ใƒชใƒณ้…ธใธใฎๅค‰ๆ›ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚FBPaseๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿๅข—ๅŠ ใ‚’ใใŸใ™ใ€‚"@ja ; - terms:identifier "2200535" ; - terms:source ; + + nando:hasNotificationNumber "70" ; + dcterms:description "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ•ใ‚ฉใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆFBPase๏ผ‰ใฏใ€ใ‚ขใƒŸใƒŽ้…ธใ‹ใ‚‰ใฎ็ณ–ๆ–ฐ็”ŸใซใŠใ„ใฆใ€ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ไบŒใƒชใƒณ้…ธใ‹ใ‚‰ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-6-ใƒชใƒณ้…ธใธใฎๅค‰ๆ›ใ‚’่กŒใ†้…ต็ด ใงใ‚ใ‚‹ใ€‚FBPaseๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€ไปฃ่ฌๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ€ใ‚ฑใƒˆใƒณไฝ“็”ฃ็”Ÿๅข—ๅŠ ใ‚’ใใŸใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200535" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fructose-1,6-bisphosphatase deficiency"@en, "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Fructose-1,6-bisphosphatase deficiency"@en, "ใตใ‚‹ใใจใƒผใ™1,6ใณใ™ใปใ™ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009251 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009251 ; skos:prefLabel "ใƒ•ใƒซใ‚ฏใƒˆใƒผใ‚น-1,6-ใƒ“ใ‚นใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200536 - :hasNotificationNumber "72" ; - terms:description "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผ๏ผˆPEPCK๏ผ‰ใฏใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใธใจๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขPEPCK ใจ็ดฐ่ƒž่ณชPEPCKใฎ2ใคใฎใ‚ขใ‚คใ‚ฝใ‚ถใ‚คใƒ ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚PEPCKๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ไนณ้…ธใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใฎ็ณ–ๆ–ฐ็”Ÿ็ณปใซใŠใ‘ใ‚‹ๅˆฉ็”จใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ‚’ๆฅใ—ใ€ๅคš่‡“ๅ™จใฎ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200536" ; - terms:source ; + + nando:hasNotificationNumber "71" ; + dcterms:description "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผ๏ผˆPEPCK๏ผ‰ใฏใ€ใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใ‚’ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใธใจๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚Šใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขPEPCK ใจ็ดฐ่ƒž่ณชPEPCKใฎ2ใคใฎใ‚ขใ‚คใ‚ฝใ‚ถใ‚คใƒ ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚PEPCKๆฌ ๆ็—‡ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€ใ‚ขใƒŸใƒŽ้…ธใ‚„ไนณ้…ธใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚ŒใŸใ‚ชใ‚ญใ‚ถใƒญ้…ข้…ธใฎ็ณ–ๆ–ฐ็”Ÿ็ณปใซใŠใ‘ใ‚‹ๅˆฉ็”จใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใŸใ‚ใ€้ฃข้ค“ๆ™‚ใซไฝŽ่ก€็ณ–ใ€้ซ˜ไนณ้…ธ่ก€็—‡ใ‚’ๆฅใ—ใ€ๅคš่‡“ๅ™จใฎ้šœๅฎณใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200536" ; + dcterms:source ; a owl:Class ; - rdfs:label "Phosphoenolpyruvate carboxykinase deficiency"@en, "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009866, mondo:MONDO_0017320 ; + rdfs:label "Phosphoenolpyruvate carboxykinase deficiency"@en, "ใปใ™ใปใˆใฎใƒผใ‚‹ใดใ‚‹ใณใ‚“ใ•ใ‚“ใ‹ใ‚‹ใผใใ—ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017320 ; skos:prefLabel "ใƒ›ใ‚นใƒ›ใ‚จใƒŽใƒผใƒซใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ซใƒซใƒœใ‚ญใ‚ทใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200537 - :hasNotificationNumber "62" ; - terms:description "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0ๅž‹๏ผ‰ใฏใ€UDP-ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’ๅŸบ่ณชใจใ—ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1,4็ตๅˆใซใ‚ฐใƒซใ‚ณใƒผใ‚นๅˆ†ๅญใ‚’ไป˜ๅŠ ใ—ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้Ž–ใ‚’ไผธ้•ทใ™ใ‚‹้…ต็ด ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€็ต„็น”ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒๆฌ ๆใ‚‚ใ—ใใฏ่‘—ใ—ใไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0aๅž‹๏ผ‰ใจ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0bๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200537" ; - terms:source ; + + nando:hasNotificationNumber "61" ; + dcterms:description "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0ๅž‹๏ผ‰ใฏใ€UDP-ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’ๅŸบ่ณชใจใ—ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1,4็ตๅˆใซใ‚ฐใƒซใ‚ณใƒผใ‚นๅˆ†ๅญใ‚’ไป˜ๅŠ ใ—ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้Ž–ใ‚’ไผธ้•ทใ™ใ‚‹้…ต็ด ใ€ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€็ต„็น”ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒๆฌ ๆใ‚‚ใ—ใใฏ่‘—ใ—ใไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0aๅž‹๏ผ‰ใจ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡๏ผˆ็ณ–ๅŽŸ็—…0bๅž‹๏ผ‰ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200537" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen synthase deficiency"@en, "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Glycogen synthase deficiency"@en, "ใใ‚Šใ“ใƒผใ’ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "็ณ–ๅŽŸ็—…0ๅž‹"@ja ; - skos:closeMatch mondo:MONDO_0009414 ; + rdfs:subClassOf ; + skos:altLabel "GSD0"@en, "Glycogen storage disease type 0"@en, "็ณ–ๅŽŸ็—…0ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009414 ; skos:prefLabel "ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200538 - :hasNotificationNumber "64" ; - terms:description "็ณ–ๅŽŸ็—…Iๅž‹ใฏใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธใ‚’ๅŠ ๆฐดๅˆ†่งฃใ—ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’็”Ÿๆˆใ€่ผธ้€ใ™ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆG6Pase๏ผ‰ๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ€Iaๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ–-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใจIbๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ ใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡)ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใ€่…Ž่‡“ใ€่…ธ็ฎกใซๅคš้‡ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ไฝŽ่ก€็ณ–ใจ่‚่…ซๅคงใŒๅ‡บ็พใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200538" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type I"@en, "็ณ–ๅŽŸ็—…โ… ๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002413, mondo:MONDO_0009287 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ… ๅž‹"@ja . - -:2200539 - :hasNotificationNumber "65" ; - terms:description "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆCori็—…๏ผ‰ใฏใ€ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ (4-ฮฑ-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ) ๆดปๆ€งใจใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆใ‚ขใƒŸใƒญ-ฮฑ-1,6-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ใฎๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้™็•Œใƒ‡ใ‚ญใ‚นใƒˆใƒชใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚ๆฌ ๆๆดปๆ€งใฎ็จฎ้กžใจ็ฝนๆ‚ฃ่‡“ๅ™จใซใ‚ˆใ‚Šโ‘ IIIaๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰โ‘กIIIbๅž‹๏ผˆ่‚ๅž‹๏ผ‰โ‘ขIIIdๅž‹ใ€€๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200539" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type III"@en, "็ณ–ๅŽŸ็—…โ…ขๅž‹"@ja ; + + nando:hasNotificationNumber "63" ; + dcterms:description "็ณ–ๅŽŸ็—…Iๅž‹ใฏใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธใ‚’ๅŠ ๆฐดๅˆ†่งฃใ—ใ‚ฐใƒซใ‚ณใƒผใ‚นใ‚’็”Ÿๆˆใ€่ผธ้€ใ™ใ‚‹ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆG6Pase๏ผ‰ๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ€Iaๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ–-ใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰ใจIbๅž‹ ๏ผˆใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ ใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡)ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใ€่…Ž่‡“ใ€่…ธ็ฎกใซๅคš้‡ใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ไฝŽ่ก€็ณ–ใจ่‚่…ซๅคงใŒๅ‡บ็พใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200538" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type I"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…Iๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002413 ; + skos:prefLabel "็ณ–ๅŽŸ็—…Iๅž‹"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:description "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆCori็—…๏ผ‰ใฏใ€ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ (4-ฮฑ-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ) ๆดปๆ€งใจใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆใ‚ขใƒŸใƒญ-ฮฑ-1,6-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ่„ฑๅˆ†ๆž้…ต็ด ใฎๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณ้™็•Œใƒ‡ใ‚ญใ‚นใƒˆใƒชใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚ๆฌ ๆๆดปๆ€งใฎ็จฎ้กžใจ็ฝนๆ‚ฃ่‡“ๅ™จใซใ‚ˆใ‚Šโ‘ IIIaๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰โ‘กIIIbๅž‹๏ผˆ่‚ๅž‹๏ผ‰โ‘ขIIIdๅž‹ใ€€๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200539" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type III"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IIIๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009291 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ขๅž‹"@ja . - -:2200540 - :hasNotificationNumber "66" ; - terms:description "็ณ–ๅŽŸ็—…IVๅž‹ใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆ†ๆž้Ž–้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซๅˆ†ๆž้Ž–ใฎๅฐ‘ใชใ„ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒณๆง˜ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚่‚่„พ่…ซใ€็ญ‹ๅŠ›ไฝŽไธ‹ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚่‚่‡“ใ‚„็ญ‹ใฎ็ต„็น”็—…็†ใงใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใซ่‡ณใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‡จๅบŠ็—…ๅž‹ใซใฏโ‘ ่‚ๅž‹๏ผˆ้‡็—‡่‚็กฌๅค‰ๅž‹๏ผ‰โ‘ก้ž้€ฒ่กŒๆ€ง่‚ๅž‹ใ€€โ‘ข่‡ดๆญปๆ–ฐ็”Ÿๅ…็ฅž็ตŒใƒป็ญ‹ๅž‹ใ€€โ‘ฃๅนผๅ…็ญ‹ใƒป่‚ๅž‹ใ€€โ‘คๆˆไบบๅž‹๏ผˆใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…๏ผ‰ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200540" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type IV"@en, "็ณ–ๅŽŸ็—…โ…ฃๅž‹"@ja ; + rdfs:subClassOf ; + skos:altLabel "Cori disease"@en, "Cori็—…"@ja, "ใ‚ณใƒผใƒชใƒผ็—…"@ja ; + skos:closeMatch obo:MONDO_0009291 ; + skos:prefLabel "็ณ–ๅŽŸ็—…IIIๅž‹"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:description "็ณ–ๅŽŸ็—…IVๅž‹ใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณๅˆ†ๆž้Ž–้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“้บไผๆ€ง็–พๆ‚ฃใงใ€็ต„็น”ใซๅˆ†ๆž้Ž–ใฎๅฐ‘ใชใ„ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒณๆง˜ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ™ใ‚‹ใ€‚่‚่„พ่…ซใ€็ญ‹ๅŠ›ไฝŽไธ‹ใชใฉใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚่‚่‡“ใ‚„็ญ‹ใฎ็ต„็น”็—…็†ใงใฎ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใซ่‡ณใ‚‹ใ“ใจใŒๅคšใ„ใ€‚่‡จๅบŠ็—…ๅž‹ใซใฏโ‘ ่‚ๅž‹๏ผˆ้‡็—‡่‚็กฌๅค‰ๅž‹๏ผ‰โ‘ก้ž้€ฒ่กŒๆ€ง่‚ๅž‹ใ€€โ‘ข่‡ดๆญปๆ–ฐ็”Ÿๅ…็ฅž็ตŒใƒป็ญ‹ๅž‹ใ€€โ‘ฃๅนผๅ…็ญ‹ใƒป่‚ๅž‹ใ€€โ‘คๆˆไบบๅž‹๏ผˆใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…๏ผ‰ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200540" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IV"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IVๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009292 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ฃๅž‹"@ja . - -:2200541 - :hasNotificationNumber "67" ; - terms:description "็ณ–ๅŽŸ็—…Vๅž‹๏ผˆMcArdle็—…๏ผ‰ใฏ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200541" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type V"@en, "็ณ–ๅŽŸ็—…โ…คๅž‹"@ja ; + rdfs:subClassOf ; + skos:altLabel "Andersen disease"@en ; + skos:closeMatch obo:MONDO_0009292 ; + skos:prefLabel "็ณ–ๅŽŸ็—…IVๅž‹"@ja . + + + nando:hasNotificationNumber "66" ; + dcterms:description "็ณ–ๅŽŸ็—…Vๅž‹๏ผˆMcArdle็—…๏ผ‰ใฏ็ญ‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200541" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type V"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†5ใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…Vๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009293 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…คๅž‹"@ja . - -:2200542 - :hasNotificationNumber "68" ; - terms:description "็ณ–ๅŽŸ็—…VIๅž‹ใฏ่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚็ต„็น”ใงใฎๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใŒ้šœๅฎณใ•ใ‚Œใ€่‚่…ซๅคงใ‚„ไฝŽ่ก€็ณ–ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200542" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type VI"@en, "็ณ–ๅŽŸ็—…โ…ฅๅž‹"@ja ; + rdfs:subClassOf ; + skos:altLabel "McArdle disease"@en, "McArdle็—…"@ja, "ใƒžใƒƒใ‚ซใƒผใƒ‰ใƒซ็—…"@ja ; + skos:closeMatch obo:MONDO_0009293 ; + skos:prefLabel "็ณ–ๅŽŸ็—…Vๅž‹"@ja . + + + nando:hasNotificationNumber "67" ; + dcterms:description "็ณ–ๅŽŸ็—…VIๅž‹ใฏ่‚ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€่‚็ต„็น”ใงใฎๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใŒ้šœๅฎณใ•ใ‚Œใ€่‚่…ซๅคงใ‚„ไฝŽ่ก€็ณ–ใ‚’็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200542" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type VI"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†6ใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…VIๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009294 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ฅๅž‹"@ja . - -:2200543 - :hasNotificationNumber "69" ; - terms:description "็ณ–ๅŽŸ็—…VIIๅž‹๏ผˆTarui็—…๏ผ‰ใฏ็ญ‹ใƒ›ใ‚นใƒ›ใƒ•ใƒซใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€1965ๅนดใซๅž‚ไบ•ใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๆบถ่ก€ใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200543" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type VII"@en, "็ณ–ๅŽŸ็—…โ…ฆๅž‹"@ja ; + rdfs:subClassOf ; + skos:altLabel "ใƒใƒผใ‚น็—…"@ja ; + skos:closeMatch obo:MONDO_0009294 ; + skos:prefLabel "็ณ–ๅŽŸ็—…VIๅž‹"@ja . + + + nando:hasNotificationNumber "68" ; + dcterms:description "็ณ–ๅŽŸ็—…VIIๅž‹๏ผˆTarui็—…๏ผ‰ใฏ็ญ‹ใƒ›ใ‚นใƒ›ใƒ•ใƒซใ‚ฏใƒˆใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡ใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€1965ๅนดใซๅž‚ไบ•ใ‚‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚้ชจๆ ผ็ญ‹ใฎ็ญ‹ๅŽ็ธฎใซๅฟ…่ฆใชATPใฎไพ›็ตฆใŒไธ่ถณใ—ใ€้‹ๅ‹•ไธ่€ใ€้‹ๅ‹•ๆ™‚ๆœ‰็—›ๆ€ง็ญ‹ใ‘ใ„ใ‚Œใ‚“ใ€ๆจช็ด‹็ญ‹่ž่งฃ็—‡๏ผˆใƒŸใ‚ชใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผ‰ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๆบถ่ก€ใŒใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200543" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type VII"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†7ใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…VIIๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009295 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…ฆๅž‹"@ja . - -:2200544 - :hasNotificationNumber "70" ; - terms:description "็ณ–ๅŽŸ็—…IXๅž‹ใฏๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚’b๏ผˆ้žๆดปๆ€งๅž‹๏ผ‰ใ‹ใ‚‰a(ๆดปๆ€งๅž‹)ใซๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใ€ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚ญใƒŠใƒผใ‚ผใฎๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’็”Ÿใ˜ใ‚‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใจ็™บ็พ่‡“ๅ™จใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ๅฐ‘ใชใใจใ‚‚๏ผ”ใคใฎ็—…ๅž‹ใŒ็Ÿฅใ‚‰ใ‚Œใ€‚X้€ฃ้Ž–ๆ€ง่‚ๅž‹ใฎIXaๅž‹๏ผˆๅˆฅๅX้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…ใ€X-linked liver glycogenosis;ใ€€XLG๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "2200544" ; - terms:source ; - a owl:Class ; - rdfs:label "Glycogen storage disease type IX"@en, "็ณ–ๅŽŸ็—…โ…จๅž‹"@ja ; + rdfs:subClassOf ; + skos:altLabel "Tarui disease"@en ; + skos:closeMatch obo:MONDO_0009295 ; + skos:prefLabel "็ณ–ๅŽŸ็—…VIIๅž‹"@ja . + + + nando:hasNotificationNumber "69" ; + dcterms:description "็ณ–ๅŽŸ็—…IXๅž‹ใฏๅŠ ใƒชใƒณ้…ธๅˆ†่งฃใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใฎฮฑ-1.4็ตๅˆใ‚’ๅˆ‡ๆ–ญใ—ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚น-๏ผ‘-ใƒชใƒณ้…ธใŒ็”Ÿๆˆใ•ใ‚Œใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚’b๏ผˆ้žๆดปๆ€งๅž‹๏ผ‰ใ‹ใ‚‰a(ๆดปๆ€งๅž‹)ใซๅค‰ๆ›ใ™ใ‚‹้…ต็ด ใ€ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผใ‚ญใƒŠใƒผใ‚ผใฎๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’็”Ÿใ˜ใ‚‹ใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใจ็™บ็พ่‡“ๅ™จใซใ‚ˆใ‚Šๅˆ†้กžใ•ใ‚Œใ‚‹ๅฐ‘ใชใใจใ‚‚๏ผ”ใคใฎ็—…ๅž‹ใŒ็Ÿฅใ‚‰ใ‚Œใ€‚X้€ฃ้Ž–ๆ€ง่‚ๅž‹ใฎIXaๅž‹๏ผˆๅˆฅๅX้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…ใ€X-linked liver glycogenosis;ใ€€XLG๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200544" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IX"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IXๅž‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018251 ; - skos:prefLabel "็ณ–ๅŽŸ็—…โ…จๅž‹"@ja . - -:2200545 - :hasNotificationNumber "63" ; - terms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ (GLUT1) ๆฌ ๆ็—‡ใฏSLC2A1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š่ก€ๆถฒ่„ณ้–ข้–€ใ‹ใ‚‰่„ณๅ†…ใธใฎใ‚ฐใƒซใ‚ณใƒผใ‚นใฎๅ–ใ‚Š่พผใฟใŒ้šœๅฎณใ•ใ‚Œใ€ไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟใ€ไธ้šๆ„้‹ๅ‹•ใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้ซ„ๆถฒ็ณ–ใฎๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200545" ; - terms:source ; - a owl:Class ; - rdfs:label "Glucose transporter 1 deficiency"@en, "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "GLUT1ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0011724 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018251 ; + skos:prefLabel "็ณ–ๅŽŸ็—…IXๅž‹"@ja . + + + nando:hasNotificationNumber "62" ; + dcterms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผ‘ (GLUT1) ๆฌ ๆ็—‡ใฏSLC2A1้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚Š่ก€ๆถฒ่„ณ้–ข้–€ใ‹ใ‚‰่„ณๅ†…ใธใฎใ‚ฐใƒซใ‚ณใƒผใ‚นใฎๅ–ใ‚Š่พผใฟใŒ้šœๅฎณใ•ใ‚Œใ€ไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€็™บ้”้…ๆปžใ€็—™ๆ€ง้บป็—บใ€้‹ๅ‹•ๅคฑ่ชฟใ€ไธ้šๆ„้‹ๅ‹•ใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้ซ„ๆถฒ็ณ–ใฎๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200545" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glucose transporter 1 deficiency"@en, "ใใ‚‹ใ“ใƒผใ™ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GLUT-1 DS"@en, "GLUT-1 deficiency"@en, "GLUT1ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0011724 ; skos:prefLabel "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ1ๆฌ ๆ็—‡"@ja . -:2200546 - :hasNotificationNumber "73" ; - terms:description "็ณ–่ณชใฏ้ฃŸๅ“ใจใ—ใฆๆ‘‚ๅ–ใ•ใ‚Œใ‚‹ใจใ€ๅธๅŽใ€ๅˆ†่งฃใŒ่กŒใ‚ใ‚Œใ€ๅ˜็ณ–้กžใจใชใฃใฆไฝ“ใฎใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใฆไฝฟใ‚ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซๅ˜็ณ–้กžใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใซๅˆๆˆใ•ใ‚Œใ€ไฝ“ๅ†…ใซ่ฒฏ็•™ใ•ใ‚Œใ‚‹ใ€‚็ฉบ่…นๆ™‚ใซใฏใใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ๅˆ†่งฃใ—ใฆใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใ€็ณ–ใฎๆ–ฐ็”Ÿใ‚‚่กŒใฃใฆใ„ใ‚‹ใ€‚็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใ‚Œใ‚‰ใฎ้Ž็จ‹ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใฎไฝŽ่ก€็ณ–ใ‚„้ซ˜ไนณ้…ธ่ก€็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹59ใ€œ73ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ณ–ไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200546" ; - terms:source ; + + nando:hasNotificationNumber "72" ; + dcterms:description "็ณ–่ณชใฏ้ฃŸๅ“ใจใ—ใฆๆ‘‚ๅ–ใ•ใ‚Œใ‚‹ใจใ€ๅธๅŽใ€ๅˆ†่งฃใŒ่กŒใ‚ใ‚Œใ€ๅ˜็ณ–้กžใจใชใฃใฆไฝ“ใฎใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใฆไฝฟใ‚ใ‚Œใ‚‹ใ€‚ใ•ใ‚‰ใซๅ˜็ณ–้กžใฏใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใซๅˆๆˆใ•ใ‚Œใ€ไฝ“ๅ†…ใซ่ฒฏ็•™ใ•ใ‚Œใ‚‹ใ€‚็ฉบ่…นๆ™‚ใซใฏใใฎใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใ‚’ๅˆ†่งฃใ—ใฆใ‚จใƒใƒซใ‚ฎใƒผๆบใจใ—ใ€็ณ–ใฎๆ–ฐ็”Ÿใ‚‚่กŒใฃใฆใ„ใ‚‹ใ€‚็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใ‚Œใ‚‰ใฎ้Ž็จ‹ใซ้–ขใ™ใ‚‹้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็ฉบ่…นๆ™‚ใฎไฝŽ่ก€็ณ–ใ‚„้ซ˜ไนณ้…ธ่ก€็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹59ใ€œ73ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ณ–ไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200546" ; + dcterms:source ; a owl:Class ; - rdfs:label "59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of carbohydrate metabolism"@en ; + rdfs:label "59ใ‹ใ‚‰73ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใจใ†ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of carbohydrate metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "59ใ‹ใ‚‰73ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ณ–่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200547 - :hasNotificationNumber "130" ; - terms:description "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-iduronidase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200547" ; - terms:source ; + + nando:hasNotificationNumber "129" ; + dcterms:description "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-iduronidase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200547" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mucopolysaccharidosis"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡โ… ๅž‹"@ja ; + rdfs:label "Mucopolysaccharidosis type I"@en, "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019249 ; - skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡โ… ๅž‹"@ja . - -:2200548 - :hasNotificationNumber "131" ; - terms:description "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹Iduronate-2-sulfatase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200548" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucopolysaccharidosis"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡โ…กๅž‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019249 ; - skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡โ…กๅž‹"@ja . - -:2200549 - :hasNotificationNumber "132" ; - terms:description "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ ใ‚ณๅคš็ณ–็—‡๏ผฉๅž‹ใ‚„โ…กๅž‹ใจๆฏ”ในใฆ้ชจใฎ้šœๅฎณใŒๅฐ‘ใชใ็Ÿฅ็š„้šœๅฎณใฏ้‡ใ„ใ€‚่ปฝๅบฆใฎ่‚่‡“่…ซๅคงใŒใ‚ใ‚Šใ€่ง’่†œๆททๆฟใฏใชใ„ใ€‚ๅฐฟไธญใซใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธใŒๅ‡บใฆใ„ใ‚‹ใŒใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚"@ja ; - terms:identifier "2200549" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucopolysaccharidosis"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ขๅž‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019249 ; - skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ขๅž‹"@ja . - -:2200550 - :hasNotificationNumber "133" ; - terms:description "Morquio ็—‡ๅ€™็พค๏ผˆใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹๏ผ‰ใฏใ€็Ÿญ่ƒดๆ€งไฝŽ่บซ้•ทใ€X่„šใ€ๆ‰‹้–ข็ฏ€ๅผ›็ทฉใ€่ง’่†œๆททๆฟใ€ๅผ่†œ็—‡ใ€ๅฐฟไธญใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผˆKS๏ผ‰ใƒปใ‚ณใƒณใƒ‰ใƒญใ‚คใƒใƒณ็กซ้…ธ๏ผˆCS๏ผ‰ใฎๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏN-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณ-6-็กซ้…ธใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆGALNS๏ผ‰ใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Aๅž‹ใจใ€ฮฒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Bๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€Aๅž‹ใŒๅคงๅŠใ‚’ๅ ใ‚ใ‚‹ใ€‚GALNSใฎๆฌ ๆใซใ‚ˆใ‚ŠKSใจCSใฎๅˆ†่งฃใŒ้˜ปๅฎณใ•ใ‚Œใ€้ชจใ‚„่ง’่†œใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ่“„็ฉใ™ใ‚‹"@ja ; - terms:identifier "2200550" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucopolysaccharidosis"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฃๅž‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019249 ; - skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฃๅž‹"@ja . - -:2200551 - :hasNotificationNumber "134" ; - terms:description "N-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณโ€•4๏ผใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผB๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซ่ตทๅ› ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฏใ€ๆˆ้•ท้šœๅฎณใ€้ชจ้–ข็ฏ€็—‡็Šถใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€่ง’่†œๆททๆฟใชใฉใ‚’ๅ‘ˆใ—๏ผŒใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹๏ผˆใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ใจ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€็Ÿฅ็š„้šœๅฎณใฏไผดใ‚ใชใ„ใ€‚่บซไฝ“ๆ‰€่ฆ‹ใ€็™บ็—‡ๆ™‚ๆœŸใ€็—‡็Šถใฎ้€ฒ่กŒ้€Ÿๅบฆใซใ‚ˆใ‚Š้‡็—‡ๅž‹ใƒปไธญ้–“ๅž‹ใƒป่ปฝ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€็—…ๅž‹ใฎๅขƒ็•Œใฏไธ้ฎฎๆ˜Žใงๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200551" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucopolysaccharidosis"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฅๅž‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019249 ; - skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฅๅž‹"@ja . - -:2200552 - :hasNotificationNumber "135" ; - terms:description "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ใฏใ€ไฝŽ่บซ้•ทใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่ƒŽๅ…ๆฐด่…ซใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’็คบใ™ใ€‚้ ปๅบฆใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅญ˜ๅœจใ™ใ‚‹ฮฒ-ใ‚ฐใƒซใ‚ฏใƒญใƒ‹ใƒ€ใƒผใ‚ผ้…ต็ด ๆดปๆ€งใŒๆฌ ๆใ™ใ‚‹ใŸใ‚ใ€ใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธใ‚’้™คใใ™ในใฆใฎใƒ ใ‚ณๅคš็ณ–ใฎๅˆ†่งฃใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200552" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucopolysaccharidosis"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฆๅž‹"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019249 ; - skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡โ…ฆๅž‹"@ja . - -:2200553 - :hasNotificationNumber "126" ; - terms:description "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-ใƒ•ใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆEC3.2.1.51๏ผ‰ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒ•ใ‚ณใƒผใ‚นใ‚’ๅซใ‚€ๅ„็จฎใฎ็ณ–่›‹็™ฝ่ณชใ€็ณ–่„‚่ณชใŒๅ…จ่บซใฎ็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฎไธญใงใ‚‚็‰นใซ้ ปๅบฆใŒไฝŽใใ€ๆ‚ฃ่€…ใฏๅ…จไธ–็•Œใซๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใŒ็™พๆ•ฐๅไพ‹ใฎๅ ฑๅ‘Šใซใ™ใŽใชใ„ใ€‚่‡จๅบŠ็š„ใซ2็จฎ้กžใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไนณๅนผๅ…ๆœŸใซ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใง็™บ็—‡ใ—้€ฒ่กŒใŒๆ—ฉใใ€ๆฑ—ใฎNaClๆฟƒๅบฆใฎไธŠๆ˜‡ใ‚’็‰นๅพดใจใ™ใ‚‹้‡็—‡ๅž‹ใงใ‚ใ‚‹Iๅž‹ใจใ€1โˆ’2ๆญณใง็™บ็—‡ใ—้€ฒ่กŒใŒ้…ใ่ขซ่ง’่ก€็ฎก่…ซ๏ผˆangiokeratoma corporis diffusum๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹่ปฝ็—‡ใฎIIๅž‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200553" ; - terms:source ; - a owl:Class ; - rdfs:label "Fucosidosis"@en, "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009254 ; + rdfs:subClassOf ; + skos:altLabel "Hurler-Scheie็—‡ๅ€™็พค"@ja, "MPS I"@en ; + skos:closeMatch obo:MONDO_0001586 ; + skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹"@ja . + + + nando:hasNotificationNumber "130" ; + dcterms:description "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธ๏ผˆDS๏ผ‰ใจใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹Iduronate-2-sulfatase ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200548" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type II"@en, "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hunter syndrome"@en, "Hunter็—‡ๅ€™็พค"@ja, "MPS II"@en ; + skos:closeMatch obo:MONDO_0010674 ; + skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "131" ; + dcterms:description "ใ‚ฐใƒชใ‚ณใ‚ตใƒŸใƒŽใ‚ฐใƒชใ‚ซใƒณใฎใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธ๏ผˆHS๏ผ‰ใฎๅˆ†่งฃใซๅฟ…่ฆใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒ ใ‚ณๅคš็ณ–็—‡๏ผฉๅž‹ใ‚„โ…กๅž‹ใจๆฏ”ในใฆ้ชจใฎ้šœๅฎณใŒๅฐ‘ใชใ็Ÿฅ็š„้šœๅฎณใฏ้‡ใ„ใ€‚่ปฝๅบฆใฎ่‚่‡“่…ซๅคงใŒใ‚ใ‚Šใ€่ง’่†œๆททๆฟใฏใชใ„ใ€‚ๅฐฟไธญใซใƒ˜ใƒ‘ใƒฉใƒณ็กซ้…ธใŒๅ‡บใฆใ„ใ‚‹ใŒใƒ‡ใƒซใƒžใ‚ฟใƒณ็กซ้…ธใฏ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200549" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type III"@en, "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS III"@en, "Sanfilippo syndrome"@en, "Sanfilippo็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018937 ; + skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "132" ; + dcterms:description "Morquio ็—‡ๅ€™็พค๏ผˆใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹๏ผ‰ใฏใ€็Ÿญ่ƒดๆ€งไฝŽ่บซ้•ทใ€X่„šใ€ๆ‰‹้–ข็ฏ€ๅผ›็ทฉใ€่ง’่†œๆททๆฟใ€ๅผ่†œ็—‡ใ€ๅฐฟไธญใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผˆKS๏ผ‰ใƒปใ‚ณใƒณใƒ‰ใƒญใ‚คใƒใƒณ็กซ้…ธ๏ผˆCS๏ผ‰ใฎๆŽ’ๆณ„ๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏN-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณ-6-็กซ้…ธใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆGALNS๏ผ‰ใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Aๅž‹ใจใ€ฮฒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใ‚’ๅŽŸๅ› ใจใ™ใ‚‹Bๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€Aๅž‹ใŒๅคงๅŠใ‚’ๅ ใ‚ใ‚‹ใ€‚GALNSใฎๆฌ ๆใซใ‚ˆใ‚ŠKSใจCSใฎๅˆ†่งฃใŒ้˜ปๅฎณใ•ใ‚Œใ€้ชจใ‚„่ง’่†œใชใฉใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ่“„็ฉใ™ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200550" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type IV"@en, "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IV"@en, "Morquio disease"@en, "Morquio็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018938 ; + skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹"@ja . + + + nando:hasNotificationNumber "133" ; + dcterms:description "N-ใ‚ขใ‚ปใƒใƒซใ‚ฌใƒฉใ‚ฏใƒˆใ‚ตใƒŸใƒณโ€•4๏ผใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผB๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซ่ตทๅ› ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ่‡จๅบŠๆ‰€่ฆ‹ใฏใ€ๆˆ้•ท้šœๅฎณใ€้ชจ้–ข็ฏ€็—‡็Šถใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€่ง’่†œๆททๆฟใชใฉใ‚’ๅ‘ˆใ—๏ผŒใƒ ใ‚ณๅคš็ณ–็—‡Iๅž‹๏ผˆใƒใƒผใƒฉใƒผ็—‡ๅ€™็พค๏ผ‰ใจ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€็Ÿฅ็š„้šœๅฎณใฏไผดใ‚ใชใ„ใ€‚่บซไฝ“ๆ‰€่ฆ‹ใ€็™บ็—‡ๆ™‚ๆœŸใ€็—‡็Šถใฎ้€ฒ่กŒ้€Ÿๅบฆใซใ‚ˆใ‚Š้‡็—‡ๅž‹ใƒปไธญ้–“ๅž‹ใƒป่ปฝ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใŒใ€็—…ๅž‹ใฎๅขƒ็•Œใฏไธ้ฎฎๆ˜Žใงๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200551" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VI"@en, "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS VI"@en, "Maroteaux-Lamy disease"@en, "Maroteaux-Lamy syndrome"@en, "Maroteaux-Lamy็—‡ๅ€™็พค"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009661 ; + skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja . + + + nando:hasNotificationNumber "134" ; + dcterms:description "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹ใฏใ€ไฝŽ่บซ้•ทใ€้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่ƒŽๅ…ๆฐด่…ซใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’็คบใ™ใ€‚้ ปๅบฆใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซๅญ˜ๅœจใ™ใ‚‹ฮฒ-ใ‚ฐใƒซใ‚ฏใƒญใƒ‹ใƒ€ใƒผใ‚ผ้…ต็ด ๆดปๆ€งใŒๆฌ ๆใ™ใ‚‹ใŸใ‚ใ€ใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธใ‚’้™คใใ™ในใฆใฎใƒ ใ‚ณๅคš็ณ–ใฎๅˆ†่งฃใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200552" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VII"@en, "ใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS VII"@en, "Sly disease"@en, "Sly็—…"@ja ; + skos:closeMatch obo:MONDO_0009662 ; + skos:prefLabel "ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja . + + + nando:hasNotificationNumber "125" ; + dcterms:description "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใงใ‚ใ‚‹ฮฑ-L-ใƒ•ใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผˆEC3.2.1.51๏ผ‰ใฎ้บไผ็š„ๆฌ ๆใซใ‚ˆใ‚Šใ€ใƒ•ใ‚ณใƒผใ‚นใ‚’ๅซใ‚€ๅ„็จฎใฎ็ณ–่›‹็™ฝ่ณชใ€็ณ–่„‚่ณชใŒๅ…จ่บซใฎ็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ—ใ€้€ฒ่กŒๆ€งใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฎไธญใงใ‚‚็‰นใซ้ ปๅบฆใŒไฝŽใใ€ๆ‚ฃ่€…ใฏๅ…จไธ–็•Œใซๅˆ†ๅธƒใ—ใฆใ„ใ‚‹ใŒ็™พๆ•ฐๅไพ‹ใฎๅ ฑๅ‘Šใซใ™ใŽใชใ„ใ€‚่‡จๅบŠ็š„ใซ2็จฎ้กžใฎๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ไนณๅนผๅ…ๆœŸใซ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใง็™บ็—‡ใ—้€ฒ่กŒใŒๆ—ฉใใ€ๆฑ—ใฎNaClๆฟƒๅบฆใฎไธŠๆ˜‡ใ‚’็‰นๅพดใจใ™ใ‚‹้‡็—‡ๅž‹ใงใ‚ใ‚‹Iๅž‹ใจใ€1โˆ’2ๆญณใง็™บ็—‡ใ—้€ฒ่กŒใŒ้…ใ่ขซ่ง’่ก€็ฎก่…ซ๏ผˆangiokeratoma corporis diffusum๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹่ปฝ็—‡ใฎIIๅž‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200553" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fucosidosis"@en, "ใตใ“ใ—ใฉใƒผใ—ใ™"@ja-Hira, "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009254 ; skos:prefLabel "ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:2200554 - :hasNotificationNumber "129" ; - terms:description "็ณ–่›‹็™ฝ่ณชใฎ็ณ–้Ž–ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒชใ‚ฝใ‚ฝโˆ’ใƒ ้…ต็ด ใฎไธญใง๏ผŒใ‚ขใƒซใƒ•ใ‚ก็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ก-mannosidase(LAMAN, EC3.2.1.24)๏ผŒใƒ™ใƒผใ‚ฟ็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ข-mannosidase(MANBA, EC3.2.1.25)ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใ‚Œใžใ‚Œใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹็–พๆ‚ฃใ‚’๏ก-mannosidosis(OMIM #248500), ๏ข-mannosidosis(OMIM #248510)ใจๅ‘ผใ‚“ใงใ„ใ‚‹๏ผŽ๏ก-mannosidase้บไผๅญ(MAN2B1)ใฏ19p13.2-q12ใซ๏ผŒ๏ข-mannosidosis้บไผๅญ(MANBA)ใฏ4q21-25ใซใƒžใƒƒใƒ—ใ•ใ‚Œ๏ผŒใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๅคงๅค‰็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅ›ฝๅ†…ๅ ฑๅ‘Šใฏๆฎ†ใฉใชใ„ใ€‚"@ja ; - terms:identifier "2200554" ; - terms:source ; - a owl:Class ; - rdfs:label "alpha-Mannosidosis"@en, "ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "beta-Mannosidosis "@en ; - skos:closeMatch mondo:MONDO_0009561, mondo:MONDO_0009562 ; + + nando:hasNotificationNumber "128" ; + dcterms:description "็ณ–่›‹็™ฝ่ณชใฎ็ณ–้Ž–ใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใƒชใ‚ฝใ‚ฝโˆ’ใƒ ้…ต็ด ใฎไธญใง๏ผŒใ‚ขใƒซใƒ•ใ‚ก็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ก-mannosidase(LAMAN, EC3.2.1.24)๏ผŒใƒ™ใƒผใ‚ฟ็ตๅˆใ—ใŸ็ต‚ๆœซmannoseใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹ใฎใฏ๏ข-mannosidase(MANBA, EC3.2.1.25)ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใ‚Œใžใ‚Œใฎ้…ต็ด ๆฌ ๆใซใ‚ˆใ‚‹็–พๆ‚ฃใ‚’๏ก-mannosidosis(OMIM #248500), ๏ข-mannosidosis(OMIM #248510)ใจๅ‘ผใ‚“ใงใ„ใ‚‹๏ผŽ๏ก-mannosidase้บไผๅญ(MAN2B1)ใฏ19p13.2-q12ใซ๏ผŒ๏ข-mannosidosis้บไผๅญ(MANBA)ใฏ4q21-25ใซใƒžใƒƒใƒ—ใ•ใ‚Œ๏ผŒใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹๏ผŽๅคงๅค‰็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๅ›ฝๅ†…ๅ ฑๅ‘Šใฏๆฎ†ใฉใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200554" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mannosidosis"@en, "ใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira, "ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:prefLabel "ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . -:2200555 - :hasNotificationNumber "112" ; - terms:description "๏ผ‘๏ผŽ ๆฆ‚่ฆใƒปๅฎš็พฉใ‚ขใƒซใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ€ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใฎN-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณใŠใ‚ˆใณใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้–“ใฎ็ตๅˆใ‚’ๅˆ‡ๆ–ญใ™ใ‚‹ๅƒใใ‚’ๆŒใคใ€‚ๆœฌ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅฝ“่ฉฒ้ ˜ๅŸŸใŒๅˆ†่งฃใ•ใ‚Œใชใ„ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใŒใƒชใ‚ฝใ‚ฝใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใชใ‚Šใ€ๆ‚ฃ่€…ใฏใ€ๆ˜“ๆ„ŸๆŸ“ใ‚„็ฒพ็ฅž็™บ้”้…ๅปถใ€็ฒ—ใช้ก”่ฒŒใŠใ‚ˆใณ้ชจ็•ฐๅธธใชใฉใฎ็—‡็Šถใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200555" ; - terms:source ; + + nando:hasNotificationNumber "111" ; + dcterms:description "๏ผ‘๏ผŽ ๆฆ‚่ฆใƒปๅฎš็พฉใ‚ขใƒซใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ€ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใฎN-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณใŠใ‚ˆใณใ‚ขใ‚นใƒ‘ใƒฉใ‚ฎใƒณ้–“ใฎ็ตๅˆใ‚’ๅˆ‡ๆ–ญใ™ใ‚‹ๅƒใใ‚’ๆŒใคใ€‚ๆœฌ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅฝ“่ฉฒ้ ˜ๅŸŸใŒๅˆ†่งฃใ•ใ‚Œใชใ„ใ‚ชใƒชใ‚ด็ณ–ใ‚„็ณ–่›‹็™ฝ่ณชใŒใƒชใ‚ฝใ‚ฝใƒผใƒ ใซ่“„็ฉใ™ใ‚‹ใ“ใจใซใชใ‚Šใ€ๆ‚ฃ่€…ใฏใ€ๆ˜“ๆ„ŸๆŸ“ใ‚„็ฒพ็ฅž็™บ้”้…ๅปถใ€็ฒ—ใช้ก”่ฒŒใŠใ‚ˆใณ้ชจ็•ฐๅธธใชใฉใฎ็—‡็Šถใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200555" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aspartylglucosaminuria"@en, "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008830 ; + rdfs:label "Aspartylglucosaminuria"@en, "ใ‚ใ™ใฑใ‚‹ใกใ‚‹ใใ‚‹ใ“ใ•ใฟใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008830 ; skos:prefLabel "ใ‚ขใ‚นใƒ‘ใƒซใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณๅฐฟ็—‡"@ja . -:2200556 - :hasNotificationNumber "118" ; - terms:description "ใƒชใ‚ฝใ‚ฝใƒผใƒ ๆ€งใƒŽใ‚คใƒฉใƒŸใƒ‹ใƒ€ใƒผใ‚ผ๏ผˆใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ2ใคใฎใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅณใกใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ๆ–‘ใจใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ‚’ไผดใ†็ฌฌ1ๅž‹ใจใ€ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฎไป–ใซใ€้ก”่ฒŒใ‚„้ชจ็•ฐๅธธใฎๅญ˜ๅœจใ‚’็‰นๅพดใจใ™ใ‚‹็ฌฌ2ๅž‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200556" ; - terms:source ; + + nando:hasNotificationNumber "117" ; + dcterms:description "ใƒชใ‚ฝใ‚ฝใƒผใƒ ๆ€งใƒŽใ‚คใƒฉใƒŸใƒ‹ใƒ€ใƒผใ‚ผ๏ผˆใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ2ใคใฎใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚ๅณใกใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ๆ–‘ใจใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ‚’ไผดใ†็ฌฌ1ๅž‹ใจใ€ใ“ใ‚Œใ‚‰ใฎ็—‡็Šถใฎไป–ใซใ€้ก”่ฒŒใ‚„้ชจ็•ฐๅธธใฎๅญ˜ๅœจใ‚’็‰นๅพดใจใ™ใ‚‹็ฌฌ2ๅž‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200556" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sialidosis"@en, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009738, mondo:MONDO_0017734 ; + rdfs:label "Sialidosis"@en, "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017734 ; skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . -:2200557 - :hasNotificationNumber "114" ; - terms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งไฟ่ญท่›‹็™ฝ่ณช/ใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆPPCA๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚PPCAใฏใ€ใใ‚Œ่‡ชไฝ“ใŒใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆ้…ธๆ€งใ‚ซใƒซใƒœใ‚ญใ‚ทใƒšใƒ—ใƒใƒ€ใƒผใ‚ผใ€ไธญๆ€งใ‚ปใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผใŠใ‚ˆใณใƒ‡ใ‚ขใƒŸใƒ€ใƒผใ‚ผ๏ผ‰ใจใ—ใฆใฎ้…ต็ด ๆดปๆ€งใ‚’ๆŒใคใ ใ‘ใงใชใใ€็ดฐ่ƒžๅ†…ใซใŠใ„ใฆใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใ‚„ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใจๅ…ฑใซ้ซ˜ๅˆ†ๅญ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใฆใ€ๅ‰่€…ใ‚’ๆดปๆ€งๅŒ–ใ—ใ€ๅพŒ่€…ใ‚’ๅฎ‰ๅฎšๅŒ–ใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆŒใคๅคšๆฉŸ่ƒฝๆ€ง็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ€‚ใ“ใฎPPCAใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Šใ€ไธ€ๆฌก็š„ใชใ‚ซใƒ†ใƒ—ใ‚ทใƒณAๆดปๆ€งใฎไฝŽไธ‹ใจไบŒๆฌก็š„ใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใŠใ‚ˆใณฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใŒ่ตทใ“ใ‚Šใ€ใใฎ็ตๆžœใ€ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’ๆฅใŸใ™็–พๆ‚ฃใŒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200557" ; - terms:source ; + + nando:hasNotificationNumber "113" ; + dcterms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งไฟ่ญท่›‹็™ฝ่ณช/ใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆPPCA๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ€‚PPCAใฏใ€ใใ‚Œ่‡ชไฝ“ใŒใ‚ซใƒ†ใƒ—ใ‚ทใƒณA๏ผˆ้…ธๆ€งใ‚ซใƒซใƒœใ‚ญใ‚ทใƒšใƒ—ใƒใƒ€ใƒผใ‚ผใ€ไธญๆ€งใ‚ปใƒชใƒณใ‚จใ‚นใƒ†ใƒฉใƒผใ‚ผใŠใ‚ˆใณใƒ‡ใ‚ขใƒŸใƒ€ใƒผใ‚ผ๏ผ‰ใจใ—ใฆใฎ้…ต็ด ๆดปๆ€งใ‚’ๆŒใคใ ใ‘ใงใชใใ€็ดฐ่ƒžๅ†…ใซใŠใ„ใฆใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใ‚„ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใจๅ…ฑใซ้ซ˜ๅˆ†ๅญ่ค‡ๅˆไฝ“ใ‚’ๅฝขๆˆใ—ใฆใ€ๅ‰่€…ใ‚’ๆดปๆ€งๅŒ–ใ—ใ€ๅพŒ่€…ใ‚’ๅฎ‰ๅฎšๅŒ–ใ™ใ‚‹ๆฉŸ่ƒฝใ‚’ๆŒใคๅคšๆฉŸ่ƒฝๆ€ง็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚‹ใ€‚ใ“ใฎPPCAใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Šใ€ไธ€ๆฌก็š„ใชใ‚ซใƒ†ใƒ—ใ‚ทใƒณAๆดปๆ€งใฎไฝŽไธ‹ใจไบŒๆฌก็š„ใชใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผใŠใ‚ˆใณฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใŒ่ตทใ“ใ‚Šใ€ใใฎ็ตๆžœใ€ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น๏ผˆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๆ€งใ‚ทใ‚ขใƒชใƒ€ใƒผใ‚ผๆฌ ๆ็—‡๏ผ‰้กžไผผใฎ่‡จๅบŠ็—‡็Šถใ‚’ๆฅใŸใ™็–พๆ‚ฃใŒใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200557" ; + dcterms:source ; a owl:Class ; - rdfs:label "Galactosialidosis"@en, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009737 ; + rdfs:label "Galactosialidosis"@en, "ใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009737 ; skos:prefLabel "ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . -:2200558 - :hasNotificationNumber "119" ; - terms:description "ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€็ณ–่„‚่ณชใฎๆœซ็ซฏฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น็ตๅˆใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ใฏใ˜ใ‚ใจใ—ใฆๅ…จ่บซ่‡“ๅ™จใซGM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใ€ใ‚ชใƒชใ‚ด็ณ–ใ€ใƒ ใ‚ณๅคš็ณ–๏ผˆใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผ‰ใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไธปใจใ™ใ‚‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…จ่บซ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใƒขใƒซใ‚ญใ‚ชB็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡๏ฝž20ไธ‡ไบบใจใ•ใ‚Œใ€็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ3๏ฝž6ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€ๅ…จ่บซๆ€งใ‘ใ„ใ‚Œใ‚“ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€่‚่„พ่…ซใ€ๅ…จ่บซใฎ้ชจ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ1ๆญณๅ‰ๅพŒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ‚„ใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง็Ÿฅ่ƒฝ้šœๅฎณใŒๅฐ‘ใชใ„ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200558" ; - terms:source ; - a owl:Class ; - rdfs:label "GM1-gangliosidosis"@en, "GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018149 ; - skos:prefLabel "GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . - -:2200559 - :hasNotificationNumber "120" ; - terms:description "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใจB ไธกๆ–นใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใ€GM2ๆดปๆ€งๅŒ–่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ไธญๅฟƒใซGM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใŒ1/30ไธ‡ไบบใจใ•ใ‚Œใ€GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใฏใใ‚ใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ6๏ฝž7ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ‚’่ชใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚่‹ฅๅนดๅž‹ใฏ2๏ฝž10ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง20๏ฝž30ๆญณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200559" ; - terms:source ; - a owl:Class ; - rdfs:label "GM2-gangliosidosis"@en, "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017720 ; - skos:prefLabel "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . - -:2200560 - :hasNotificationNumber "113" ; - terms:description "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณ็™ฝ่ณชใ€ๆœซๆขข็ฅž็ตŒใ€่…Ž่‡“ใชใฉใซใ‚นใƒซใƒ•ใ‚กใƒใƒ‰ใŒ่“„็ฉใ—ใ€ไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚็™บ็—‡้ ปๅบฆใฏ4ไธ‡๏ฝž16ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ2ๆญณใพใงใซ็™บ็—‡ใ—ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๆทฑ้ƒจ่…ฑๅๅฐ„ๆถˆๅคฑใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ4๏ฝž6ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็—™ๆ€ง้บป็—บใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏ10ไปฃๅพŒๅŠไปฅ้™ใซๆƒ…็ท’้šœๅฎณใ€่จ€่ชž้šœๅฎณใ€็—ดๅ‘†ใ€็ฒพ็ฅž็—‡็Šถใชใฉใง็™บ็—‡ใ—ใ€5๏ฝž10ๅนดใฎ็ตŒ้Žใง้€ฒ่กŒใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200560" ; - terms:source ; - a owl:Class ; - rdfs:label "Metachromatic leukodystrophy"@en, "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009591, mondo:MONDO_0018868 ; + + nando:hasNotificationNumber "118" ; + dcterms:description "ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€็ณ–่„‚่ณชใฎๆœซ็ซฏฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚น็ตๅˆใ‚’ๅŠ ๆฐดๅˆ†่งฃใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ฮฒ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ใฏใ˜ใ‚ใจใ—ใฆๅ…จ่บซ่‡“ๅ™จใซGM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใ€ใ‚ชใƒชใ‚ด็ณ–ใ€ใƒ ใ‚ณๅคš็ณ–๏ผˆใ‚ฑใƒฉใ‚ฟใƒณ็กซ้…ธ๏ผ‰ใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไธปใจใ™ใ‚‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใจใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…จ่บซ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใƒขใƒซใ‚ญใ‚ชB็—…ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ1/10ไธ‡๏ฝž20ไธ‡ไบบใจใ•ใ‚Œใ€็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ3๏ฝž6ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€ๅ…จ่บซๆ€งใ‘ใ„ใ‚Œใ‚“ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€่‚่„พ่…ซใ€ๅ…จ่บซใฎ้ชจ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ1ๆญณๅ‰ๅพŒใ‹ใ‚‰็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ‚„ใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง็Ÿฅ่ƒฝ้šœๅฎณใŒๅฐ‘ใชใ„ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200558" ; + dcterms:source ; + a owl:Class ; + rdfs:label "GM1 Gangliosidosis"@en, "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "ใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Beta-galactosidase-1 deficiency"@en ; + skos:closeMatch obo:MONDO_0018149 ; + skos:prefLabel "GM1ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "119" ; + dcterms:description "GM2-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นใฏใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ฮฒ-ใƒ˜ใ‚ญใ‚ฝใ‚ตใƒŸใƒ‹ใƒ€ใƒผใ‚ผAใจB ไธกๆ–นใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใ€GM2ๆดปๆ€งๅŒ–่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณใ‚’ไธญๅฟƒใซGM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใชใฉใฎ็ณ–่„‚่ณชใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…ใ€ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ใŒ1/30ไธ‡ไบบใจใ•ใ‚Œใ€GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ๆดปๆ€งๅŒ–่›‹็™ฝ่ณชๆฌ ๆ็—‡ใฏใใ‚ใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ็”ŸๅพŒ6๏ฝž7ใƒถๆœˆใพใงใซ็™บ้”ใฎ้…ใ‚ŒใŒ่ฆ‹ใ‚‰ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้Ÿณใซๅฏพใ™ใ‚‹้Žๆ•็—‡ใ€็œผๅบ•ใฎใƒใ‚งใƒชใƒผใƒฌใƒƒใƒ‰ใ‚นใƒใƒƒใƒˆใ‚’่ชใ‚ใ‚‹ใ€‚่‚่„พ่…ซใ€้ชจ็•ฐๅธธใฏใปใจใ‚“ใฉใชใ„ใ€‚่‹ฅๅนดๅž‹ใฏ2๏ฝž10ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่‡จๅบŠ็—‡็Šถใฏไนณๅ…ๅž‹ใซ้กžไผผใ™ใ‚‹ใŒใ€ใ‚„ใ‚„่ปฝๅบฆใงใ‚ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏใ€็™บ้”ใฏๆญฃๅธธใง20๏ฝž30ๆญณใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆญฉ่กŒ้šœๅฎณใ€ๆง‹้Ÿณ้šœๅฎณใŒๅˆๆœŸ็—‡็Šถใจใ—ใฆๅคšใใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200559" ; + dcterms:source ; + a owl:Class ; + rdfs:label "GM2 gangliosidosis"@en, "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "ใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017720 ; + skos:prefLabel "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "112" ; + dcterms:description "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏใ€ใ‚ขใƒชใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผAใฎๆฌ ๆใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่„ณ็™ฝ่ณชใ€ๆœซๆขข็ฅž็ตŒใ€่…Ž่‡“ใชใฉใซใ‚นใƒซใƒ•ใ‚กใƒใƒ‰ใŒ่“„็ฉใ—ใ€ไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ใ€‚็™บ็—‡้ ปๅบฆใฏ4ไธ‡๏ฝž16ไธ‡ไบบใซ1ไบบใงใ‚ใ‚‹ใ€‚็™บ็—‡ๆ™‚ๆœŸใจ่‡จๅบŠ็ตŒ้Žใซใ‚ˆใ‚Šใ€ไนณๅ…ๅž‹ใ€่‹ฅๅนดๅž‹ใ€ๆˆไบบๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ไนณๅ…ๅž‹ใฏ2ๆญณใพใงใซ็™บ็—‡ใ—ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๆทฑ้ƒจ่…ฑๅๅฐ„ๆถˆๅคฑใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‹ฅๅนดๅž‹ใฏ4๏ฝž6ๆญณ้ ƒใซ็™บ็—‡ใ—ใ€่ฆ–็ฅž็ตŒ่Ž็ธฎใ€็Ÿฅ่ƒฝ้šœๅฎณใ€็—™ๆ€ง้บป็—บใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบๅž‹ใฏ10ไปฃๅพŒๅŠไปฅ้™ใซๆƒ…็ท’้šœๅฎณใ€่จ€่ชž้šœๅฎณใ€็—ดๅ‘†ใ€็ฒพ็ฅž็—‡็Šถใชใฉใง็™บ็—‡ใ—ใ€5๏ฝž10ๅนดใฎ็ตŒ้Žใง้€ฒ่กŒใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200560" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Metachromatic leukodystrophy"@en, "ใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MLD"@en ; + skos:closeMatch obo:MONDO_0018868 ; skos:prefLabel "็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200561 - :hasNotificationNumber "123" ; - terms:description "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ๏ผˆNiemann-Pick๏ผ‰็—…ใฏใ€้…ธๆ€งใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒŠใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹Aๅž‹ใ€Bๅž‹ใจNPC1ใพใŸใฏNPC2่›‹็™ฝใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹Cๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‚่‡“ใ€่„พ่‡“ใ€้ชจ้ซ„ใฎ็ถฒๅ†…็ณป็ดฐ่ƒžใจ็ฅž็ตŒ็ดฐ่ƒžใซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒณใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ€็ณ–่„‚่ณชใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ12ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚Aๅž‹ใฏไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใ€็ฒพ็ฅž้‹ๅ‹•้šœๅฎณใ€ๅž‚็›ดๆ–นๅ‘ใฎ็œผ็ƒ้‹ๅ‹•้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚Bๅž‹ใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใŒไธปไฝ“ใงใ‚ใ‚Šใ€็ฅž็ตŒ็—‡็Šถใฏไผดใ‚ใชใ„ใ€‚Cๅž‹ใฎ็™บ็—‡ๅนด้ฝขใฏๆง˜ใ€…ใงใ€่‚่„พ่…ซใ€ใ‚ซใ‚ฟใƒฌใƒ—ใ‚ญใ‚ทใƒผใ€ๅž‚็›ด็œผ็ƒ้‹ๅ‹•้šœๅฎณใ€ๅคฑ่ชฟใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€็—ดๅ‘†ใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบ็™บ็—‡ใงใฏ็—ดๅ‘†ใ€ๆŠ‘ใ†ใค็—‡็Šถใชใฉใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200561" ; - terms:source ; + + nando:hasNotificationNumber "122" ; + dcterms:description "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ๏ผˆNiemann-Pick๏ผ‰็—…ใฏใ€้…ธๆ€งใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒŠใƒผใ‚ผใŒๆฌ ๆใ™ใ‚‹Aๅž‹ใ€Bๅž‹ใจNPC1ใพใŸใฏNPC2่›‹็™ฝใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹Cๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผ็—…ใงใ‚ใ‚‹ใ€‚่‚่‡“ใ€่„พ่‡“ใ€้ชจ้ซ„ใฎ็ถฒๅ†…็ณป็ดฐ่ƒžใจ็ฅž็ตŒ็ดฐ่ƒžใซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒŸใ‚จใƒชใƒณใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ€็ณ–่„‚่ณชใชใฉใŒ่“„็ฉใ™ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏ12ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚Aๅž‹ใฏไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใ€็ฒพ็ฅž้‹ๅ‹•้šœๅฎณใ€ๅž‚็›ดๆ–นๅ‘ใฎ็œผ็ƒ้‹ๅ‹•้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚Bๅž‹ใฏๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€่‚่„พ่…ซใŒไธปไฝ“ใงใ‚ใ‚Šใ€็ฅž็ตŒ็—‡็Šถใฏไผดใ‚ใชใ„ใ€‚Cๅž‹ใฎ็™บ็—‡ๅนด้ฝขใฏๆง˜ใ€…ใงใ€่‚่„พ่…ซใ€ใ‚ซใ‚ฟใƒฌใƒ—ใ‚ญใ‚ทใƒผใ€ๅž‚็›ด็œผ็ƒ้‹ๅ‹•้šœๅฎณใ€ๅคฑ่ชฟใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€็—ดๅ‘†ใชใฉใฎ็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆˆไบบ็™บ็—‡ใงใฏ็—ดๅ‘†ใ€ๆŠ‘ใ†ใค็—‡็Šถใชใฉใฎ็ฒพ็ฅž็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200561" ; + dcterms:source ; a owl:Class ; - rdfs:label "Niemann-Pick disease"@en, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…"@ja ; + rdfs:label "Niemann-Pick disease"@en, "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†"@ja-Hira, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Niemann-Pick็—…"@ja ; - skos:closeMatch mondo:MONDO_0001982 ; + rdfs:subClassOf ; + skos:altLabel "NPD"@en, "Niemann-Pick็—…"@ja ; + skos:closeMatch obo:MONDO_0001982 ; skos:prefLabel "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…"@ja . -:2200562 - :hasNotificationNumber "116" ; - terms:description "ใ‚ดใƒผใ‚ทใ‚ง็—…ใฏใ€ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆๅˆฅๅฮฒโˆ’ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใŒไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใ—ใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹็ณ–่„‚่ณชใฎใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใŒ็ต„็น”ใซ่“„็ฉใ™ใ‚‹ใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นใฎใฒใจใคใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏใ€ไฝ“ไธญใฎใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ่“„็ฉใ—ใ€่‚่„พ่…ซใ€้ชจ็—›ใ‚„็—…็š„้ชจๆŠ˜ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚"@ja ; - terms:identifier "2200562" ; - terms:source ; + + nando:hasNotificationNumber "115" ; + dcterms:description "ใ‚ดใƒผใ‚ทใ‚ง็—…ใฏใ€ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆๅˆฅๅฮฒโˆ’ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผ๏ผ‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใŒไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใ—ใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹็ณ–่„‚่ณชใฎใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใŒ็ต„็น”ใซ่“„็ฉใ™ใ‚‹ใ‚นใƒ•ใ‚ฃใƒณใ‚ดใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นใฎใฒใจใคใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ‚ฐใƒซใ‚ณใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏใ€ไฝ“ไธญใฎใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใซ่“„็ฉใ—ใ€่‚่„พ่…ซใ€้ชจ็—›ใ‚„็—…็š„้ชจๆŠ˜ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200562" ; + dcterms:source ; a owl:Class ; - rdfs:label "Gaucher disease"@en, "ใ‚ดใƒผใ‚ทใ‚ง็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Gaucher disease"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Gaucher็—…"@ja ; - skos:closeMatch mondo:MONDO_0018150 ; + skos:closeMatch obo:MONDO_0018150 ; skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…"@ja . -:2200563 - :hasNotificationNumber "125" ; - terms:description "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ๅŠ ๆฐดๅˆ†่งฃ้…ต็ด ใฎไธ€ใคใงใ‚ใ‚‹ฮฑ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒญใƒœใƒˆใƒชใ‚ขใ‚ชใ‚ทใƒซใ‚ปใƒฉใƒŸใƒ‰ใŒใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ€ๅนณๆป‘็ญ‹็ดฐ่ƒžใ€ๆฑ—่…บใ€่…Ž่‡“ใ€ๅฟƒ็ญ‹ใ€่‡ชๅพ‹็ฅž็ตŒ็ฏ€ใ€่ง’่†œใซ่“„็ฉใ—ใ€่…Ž้šœๅฎณใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€็šฎ่†š็—…ๅค‰ใ€ๅ››่‚ขๆœซ็ซฏ็—›ใ€่ง’่†œๆททๆฟใชใฉใ‚’็”Ÿใ˜ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ใƒ˜ใƒ†ใƒญ็ตๅˆไฝ“ใฎๅฅณๆ€งใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200563" ; - terms:source ; + + nando:hasNotificationNumber "124" ; + dcterms:description "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…ใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซๅญ˜ๅœจใ™ใ‚‹ๅŠ ๆฐดๅˆ†่งฃ้…ต็ด ใฎไธ€ใคใงใ‚ใ‚‹ฮฑ-ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใƒ€ใƒผใ‚ผๆดปๆ€งใฎไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ใใฎๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฐใƒญใƒœใƒˆใƒชใ‚ขใ‚ชใ‚ทใƒซใ‚ปใƒฉใƒŸใƒ‰ใŒใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ€ๅนณๆป‘็ญ‹็ดฐ่ƒžใ€ๆฑ—่…บใ€่…Ž่‡“ใ€ๅฟƒ็ญ‹ใ€่‡ชๅพ‹็ฅž็ตŒ็ฏ€ใ€่ง’่†œใซ่“„็ฉใ—ใ€่…Ž้šœๅฎณใ€่„ณ่ก€็ฎก้šœๅฎณใ€่™š่ก€ๆ€งๅฟƒ็–พๆ‚ฃใ€ๅฟƒ็ญ‹็—‡ใ€็šฎ่†š็—…ๅค‰ใ€ๅ››่‚ขๆœซ็ซฏ็—›ใ€่ง’่†œๆททๆฟใชใฉใ‚’็”Ÿใ˜ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒใ€ใƒ˜ใƒ†ใƒญ็ตๅˆไฝ“ใฎๅฅณๆ€งใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200563" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fabry disease"@en, "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Fabry disease"@en, "ใตใใถใ‚Šใƒผใณใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Fabry็—…"@ja ; - skos:closeMatch mondo:MONDO_0010526 ; + skos:closeMatch obo:MONDO_0010526 ; skos:prefLabel "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja . -:2200564 - :hasNotificationNumber "115" ; - terms:description "ใ‚ฏใƒฉใƒƒใƒ™็—…๏ผˆKrabbe disease๏ผ‰ใฏใ€ใ‚ฐใƒญใƒœใ‚คใƒ‰็ดฐ่ƒž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆgloboid-cell leukodystrophy; GLD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใจๆœซๆขขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใฎ้šœๅฎณใ‹ใ‚‰่„ฑ้š๏ผˆ้ซ„้ž˜ใ€ใƒŸใ‚จใƒชใƒณใฎ็ ดๅฃŠ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใจๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใพใŸใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎใŠใ‚‚ใชๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏ่“„็ฉใ—ใชใ„ใŒใ€ๅพฎ้‡ใชๅŸบ่ณชใฎใ‚ตใ‚คใ‚ณใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็ดฐ่ƒž้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200564" ; - terms:source ; + + nando:hasNotificationNumber "114" ; + dcterms:description "ใ‚ฏใƒฉใƒƒใƒ™็—…๏ผˆKrabbe disease๏ผ‰ใฏใ€ใ‚ฐใƒญใƒœใ‚คใƒ‰็ดฐ่ƒž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆgloboid-cell leukodystrophy; GLD๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ไธญๆžขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ชใƒชใ‚ดใƒ‡ใƒณใƒ‰ใƒญใ‚ฐใƒชใ‚ขใจๆœซๆขขใฎ็ฅž็ตŒ็ทš็ถญใ‚’ๅฝขๆˆใ™ใ‚‹ใ‚ทใƒฅใƒฏใƒณ็ดฐ่ƒžใฎ้šœๅฎณใ‹ใ‚‰่„ฑ้š๏ผˆ้ซ„้ž˜ใ€ใƒŸใ‚จใƒชใƒณใฎ็ ดๅฃŠ๏ผ‰ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€ไธญๆžข็ฅž็ตŒ้šœๅฎณใจๆœซๆขข็ฅž็ตŒ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใพใŸใ€ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ€ใƒผใ‚ผใฎใŠใ‚‚ใชๅŸบ่ณชใงใ‚ใ‚‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ปใƒฌใƒ–ใƒญใ‚ทใƒ‰ใฏ่“„็ฉใ—ใชใ„ใŒใ€ๅพฎ้‡ใชๅŸบ่ณชใฎใ‚ตใ‚คใ‚ณใ‚ทใƒณใŒ่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€็ดฐ่ƒž้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200564" ; + dcterms:source ; a owl:Class ; - rdfs:label "Krabbe disease"@en, "ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Krabbe disease"@en, "ใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Krabbe็—…"@ja ; - skos:closeMatch mondo:MONDO_0009499 ; + skos:closeMatch obo:MONDO_0009499 ; skos:prefLabel "ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . -:2200565 - :hasNotificationNumber "124" ; - terms:description "ใƒ•ใ‚กใƒผใƒใƒผ็—…ใฏใ€้…ธๆ€งใ‚ปใƒฉใƒŸใƒ€ใƒผใ‚ผ๏ผˆN-ใ‚ขใ‚ทใƒซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใ‚ทใƒณใ‚ขใƒŸใƒ‰ใƒ’ใƒ‰ใƒญใƒฉใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅŸบ่ณชใงใ‚ใ‚‹ใ‚ปใƒฉใƒŸใƒ‰๏ผˆceramide๏ผ‰ใŒๆง˜ใ€…ใช็ต„็น”ใซ่“„็ฉใ—ใ€้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹้–ข็ฏ€ใฎๆœ‰็—›ๆ€ง่…ซ่„นใ€่‚‰่Šฝ่…ซๅฝขๆˆใ€ๆ‹˜็ธฎใฏๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚‹็‚Ž็—‡ๆ€งๅค‰ๅŒ–ใซๅŸบใฅใใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200565" ; - terms:source ; - a owl:Class ; - rdfs:label "Farber disease"@en, "ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Farber็—…"@ja ; - skos:closeMatch mondo:MONDO_0009218 ; + + nando:hasNotificationNumber "123" ; + dcterms:description "ใƒ•ใ‚กใƒผใƒใƒผ็—…ใฏใ€้…ธๆ€งใ‚ปใƒฉใƒŸใƒ€ใƒผใ‚ผ๏ผˆN-ใ‚ขใ‚ทใƒซใ‚นใƒ•ใ‚ฃใƒณใ‚ดใ‚ทใƒณใ‚ขใƒŸใƒ‰ใƒ’ใƒ‰ใƒญใƒฉใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Šใ€ๅŸบ่ณชใงใ‚ใ‚‹ใ‚ปใƒฉใƒŸใƒ‰๏ผˆceramide๏ผ‰ใŒๆง˜ใ€…ใช็ต„็น”ใซ่“„็ฉใ—ใ€้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹้–ข็ฏ€ใฎๆœ‰็—›ๆ€ง่…ซ่„นใ€่‚‰่Šฝ่…ซๅฝขๆˆใ€ๆ‹˜็ธฎใฏๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚‹็‚Ž็—‡ๆ€งๅค‰ๅŒ–ใซๅŸบใฅใใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200565" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Farber disease"@en, "ใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FD"@en, "Farber's lipogranulomatosis"@en, "Farber็—…"@ja ; + skos:closeMatch obo:MONDO_0009218 ; skos:prefLabel "ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . -:2200566 - :hasNotificationNumber "128" ; - terms:description "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ›ใƒซใƒŸใƒซใ‚ฐใƒชใ‚ทใƒณ็”Ÿๆˆ้…ต็ด ๏ผˆformyglycine-generating enzyme; FGE๏ผ‰ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹sulfatase modifying factor 1๏ผˆSUMF1๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€FGE่›‹็™ฝ่ณชใฎไธๅฎ‰ๅฎšๅŒ–ใ€ๅŸบ่ณชใจใฎๅนฒๆธ‰ใ€่ค‡ๆ•ฐใฎใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใƒ ใ‚ณๅคš็ณ–็—‡ใซ้กžไผผใ—ใŸๆง˜ใ€…ใช็ต„็น”้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "2200566" ; - terms:source ; - a owl:Class ; - rdfs:label "Multiple sulfatase deficiency"@en, "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010088 ; + + nando:hasNotificationNumber "127" ; + dcterms:description "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€ใƒ›ใƒซใƒŸใƒซใ‚ฐใƒชใ‚ทใƒณ็”Ÿๆˆ้…ต็ด ๏ผˆformyglycine-generating enzyme; FGE๏ผ‰ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹sulfatase modifying factor 1๏ผˆSUMF1๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€FGE่›‹็™ฝ่ณชใฎไธๅฎ‰ๅฎšๅŒ–ใ€ๅŸบ่ณชใจใฎๅนฒๆธ‰ใ€่ค‡ๆ•ฐใฎใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผ้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅผ•ใ่ตทใ“ใ—ใ€็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใƒ ใ‚ณๅคš็ณ–็—‡ใซ้กžไผผใ—ใŸๆง˜ใ€…ใช็ต„็น”้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200566" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Multiple sulfatase deficiency"@en, "ใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ใƒžใƒซใƒใƒ—ใƒซใ‚ตใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja, "ๅคš็™บๆ€งใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010088 ; skos:prefLabel "ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200567 - :hasNotificationNumber "136" ; - terms:description "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅ› ใงใ‚ใ‚‹ใ€‚GNPTใฏใ€ฮฑ2ฮฒ2ฮณ2ใฎ6ใคใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‹ใ‚‰ใชใ‚Šใ€่ฒฌไปป้บไผๅญใฏฮฑใŠใ‚ˆใณฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNTPAB้บไผๅญใŠใ‚ˆใณฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNPG้บไผๅญใฎ2ใคใงใ‚ใ‚‹ใ€‚้…ต็ด ๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒ็”Ÿๆˆใ•ใ‚ŒใŸใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใธใฎใ‚ฟใƒผใ‚ฒใƒ†ใ‚ฃใƒณใ‚ฐใซ็•ฐๅธธใ‚’ใใŸใ—๏ผŒ็ดฐ่ƒžๅค–ใƒžใƒˆใƒชใƒƒใ‚ฏใ‚นใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใŒๆฉŸ่ƒฝใ™ใ‚‹ใŸใ‚ใซใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€ง็’ฐๅขƒใŒๅฟ…่ฆใงใ‚ใ‚‹ใŸใ‚๏ผŒๆ‚ฃ่€…ใงใฏ๏ผŒใ‚ใ‚‰ใ‚†ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใŒ็ดฐ่ƒžๅ†…ใงๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200567" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucolipidosis II"@en, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…กๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "I-cell็—…"@ja ; - skos:closeMatch mondo:MONDO_0009650 ; - skos:prefLabel "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…กๅž‹"@ja . - -:2200568 - :hasNotificationNumber "137" ; - terms:description "1ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ใฎ่ปฝ็—‡ๅž‹ใงใ€N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚‹ใ€‚ๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ใ€”็–ซๅญฆใ€•10ไธ‡๏ฝž20ไธ‡ไบบใซ1ไบบใใ‚‰ใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200568" ; - terms:source ; - a owl:Class ; - rdfs:label "Mucolipidosis III"@en, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…ขๅž‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018931 ; - skos:prefLabel "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นโ…ขๅž‹"@ja . - -:2200569 - :hasNotificationNumber "127" ; - terms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซใŠใ‘ใ‚‹้…ธๆ€งฮฑ-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚Šใ€ไธปใซ็ญ‹็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200569" ; - terms:source ; - a owl:Class ; - rdfs:label "Pompe disease"@en, "ใƒใƒณใƒš็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "135" ; + dcterms:description "N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅ› ใงใ‚ใ‚‹ใ€‚GNPTใฏใ€ฮฑ2ฮฒ2ฮณ2ใฎ6ใคใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‹ใ‚‰ใชใ‚Šใ€่ฒฌไปป้บไผๅญใฏฮฑใŠใ‚ˆใณฮฒใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNTPAB้บไผๅญใŠใ‚ˆใณฮณใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹GNPG้บไผๅญใฎ2ใคใงใ‚ใ‚‹ใ€‚้…ต็ด ๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒ็”Ÿๆˆใ•ใ‚ŒใŸใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใธใฎใ‚ฟใƒผใ‚ฒใƒ†ใ‚ฃใƒณใ‚ฐใซ็•ฐๅธธใ‚’ใใŸใ—๏ผŒ็ดฐ่ƒžๅค–ใƒžใƒˆใƒชใƒƒใ‚ฏใ‚นใซๅˆ†ๆณŒใ•ใ‚Œใ‚‹ใ€‚ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ็พคใŒๆฉŸ่ƒฝใ™ใ‚‹ใŸใ‚ใซใฏใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใฎ้…ธๆ€ง็’ฐๅขƒใŒๅฟ…่ฆใงใ‚ใ‚‹ใŸใ‚๏ผŒๆ‚ฃ่€…ใงใฏ๏ผŒใ‚ใ‚‰ใ‚†ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ้…ต็ด ใŒ็ดฐ่ƒžๅ†…ใงๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200567" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucolipidosis II"@en, "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™2ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "I-cell disease"@en, "I-cell็—…"@ja, "ML II"@en ; + skos:closeMatch obo:MONDO_0009650 ; + skos:prefLabel "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja . + + + nando:hasNotificationNumber "136" ; + dcterms:description "1ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIๅž‹ใฎ่ปฝ็—‡ๅž‹ใงใ€N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ณใ‚ตใƒŸใƒณ-1-ใƒชใƒณ้…ธๅŸบ่ปข็งป้…ต็ด ๏ผˆGNPT๏ผ‰ๆดปๆ€งๆฌ ๆใซใ‚ˆใ‚‹ใ€‚ๅคšๆง˜ใชๅŸบ่ณชใŒใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ่“„็ฉใ™ใ‚‹ใ€‚ใ€”็–ซๅญฆใ€•10ไธ‡๏ฝž20ไธ‡ไบบใซ1ไบบใใ‚‰ใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200568" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucolipidosis III"@en, "ใ‚€ใ“ใ‚Šใดใฉใƒผใ—ใ™3ใŒใŸ"@ja-Hira, "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ML III"@en ; + skos:closeMatch obo:MONDO_0018931 ; + skos:prefLabel "ใƒ ใ‚ณใƒชใƒ”ใƒ‰ใƒผใ‚ทใ‚นIIIๅž‹"@ja . + + + nando:hasNotificationNumber "126" ; + dcterms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซใŠใ‘ใ‚‹้…ธๆ€งฮฑ-ใ‚ฐใƒซใ‚ณใ‚ทใƒ€ใƒผใ‚ผใฎๆดปๆ€งไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚Šใ€ไธปใซ็ญ‹็ดฐ่ƒžใฎใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใฎ็ญ‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200569" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pompe disease"@en, "ใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Pompe็—…"@ja, "glycogen storage disease type II"@en ; - skos:closeMatch mondo:MONDO_0009290 ; + skos:closeMatch obo:MONDO_0009290 ; skos:prefLabel "ใƒใƒณใƒš็—…"@ja . -:2200570 - :hasNotificationNumber "117" ; - terms:description "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒใปใจใ‚“ใฉใฎๅ†…่‡“็ต„็น”ไธญใฎ็ต„็น”็ƒๆ€งๆณกๆฒซ็ดฐ่ƒžใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใจใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎใƒฉใ‚คใ‚ฝใ‚ฝใƒผใƒ ่“„็ฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ้‡็—‡ๅž‹ใฎWolman็—…๏ผˆWolman disease๏ผ‰ใจ่ปฝ็—‡ๅž‹ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡๏ผˆcholesterol ester storage disease๏ผšCESD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200570" ; - terms:source ; + + nando:hasNotificationNumber "116" ; + dcterms:description "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผใฎๆฌ ๆใซใ‚ˆใฃใฆ๏ผŒใปใจใ‚“ใฉใฎๅ†…่‡“็ต„็น”ไธญใฎ็ต„็น”็ƒๆ€งๆณกๆฒซ็ดฐ่ƒžใซใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใจใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰ใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎใƒฉใ‚คใ‚ฝใ‚ฝใƒผใƒ ่“„็ฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซ้‡็—‡ๅž‹ใฎWolman็—…๏ผˆWolman disease๏ผ‰ใจ่ปฝ็—‡ๅž‹ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡๏ผˆcholesterol ester storage disease๏ผšCESD๏ผ‰ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200570" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acid lipase deficiency"@en, "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Acid lipase deficiency"@en, "ใ•ใ‚“ใ›ใ„ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Wolman disease and cholesterol ester storage disease"@en ; - skos:closeMatch mondo:MONDO_0019148 ; + skos:closeMatch obo:MONDO_0019148 ; skos:prefLabel "้…ธๆ€งใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200571 - :hasNotificationNumber "121" ; - terms:description "ใ‚ทใ‚นใƒใƒณใŒ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚3ๅž‹ใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€่…Ž๏ผˆไนณๅ…๏ผ‰ๅž‹ใฏใ€ใ™ในใฆใฎ็ดฐ่ƒžๅ†…ใงใ‚ทใ‚นใƒใƒณใŒ่“„็ฉใ—ใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š่…Žๆ€งใƒ•ใ‚กใƒณใ‚ณใƒ‹ใƒผ็—‡ๅ€™็พคใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธญ้–“๏ผˆ่‹ฅๅนด๏ผ‰ๅž‹ใฏใ€็ดฐ่ƒžๅ†…ใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎ้€ฒ่กŒใฏ็ทฉๅพใงใ€็™บ็—‡ใฏๆ€ๆ˜ฅๆœŸไปฅ้™ใงใ‚ใ‚‹ใ€‚้ž่…Ž๏ผˆ็œผ๏ผ‰ๅž‹ใฏใ€่ง’่†œใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎใฟใŒ็—‡็Šถใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200571" ; - terms:source ; + + nando:hasNotificationNumber "120" ; + dcterms:description "ใ‚ทใ‚นใƒใƒณใŒ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚3ๅž‹ใฎ็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€่…Ž๏ผˆไนณๅ…๏ผ‰ๅž‹ใฏใ€ใ™ในใฆใฎ็ดฐ่ƒžๅ†…ใงใ‚ทใ‚นใƒใƒณใŒ่“„็ฉใ—ใ€ไนณๅ…ๆœŸใ‚ˆใ‚Š่…Žๆ€งใƒ•ใ‚กใƒณใ‚ณใƒ‹ใƒผ็—‡ๅ€™็พคใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ไธญ้–“๏ผˆ่‹ฅๅนด๏ผ‰ๅž‹ใฏใ€็ดฐ่ƒžๅ†…ใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎ้€ฒ่กŒใฏ็ทฉๅพใงใ€็™บ็—‡ใฏๆ€ๆ˜ฅๆœŸไปฅ้™ใงใ‚ใ‚‹ใ€‚้ž่…Ž๏ผˆ็œผ๏ผ‰ๅž‹ใฏใ€่ง’่†œใฎใ‚ทใ‚นใƒใƒณ่“„็ฉใฎใฟใŒ็—‡็Šถใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200571" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cystinosis"@en, "ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016239 ; + rdfs:label "Cystinosis"@en, "ใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016239 ; skos:prefLabel "ใ‚ทใ‚นใƒใƒณ็—‡"@ja . -:2200572 - :hasNotificationNumber "138" ; - terms:description "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ่†œใซใŠใ‘ใ‚‹ใ‚ทใ‚ขใƒซ้…ธใฎ่ผธ้€้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ้Š้›ขใ‚ทใ‚ขใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰่ปฝ็—‡ๅž‹ใฏSalla็—…ใ€้‡็—‡ๅž‹ใฏไนณๅ…้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใŠใ‚ˆใณใใฎไธญ้–“ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200572" ; - terms:source ; - a owl:Class ; - rdfs:label "Free Sialic Acid Storage Disease"@en, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Salla Disease"@en, "infantile Free Sialic Acid Storage Disease"@en ; - skos:closeMatch mondo:MONDO_0010027, mondo:MONDO_0011449, mondo:MONDO_0019366 ; + + nando:hasNotificationNumber "137" ; + dcterms:description "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใฏใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ่†œใซใŠใ‘ใ‚‹ใ‚ทใ‚ขใƒซ้…ธใฎ่ผธ้€้šœๅฎณใซใ‚ˆใ‚Šใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ๅ†…ใซ้Š้›ขใ‚ทใ‚ขใƒซ้…ธใŒ่“„็ฉใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚’ๅ‘ˆใ—ใ€่‡จๅบŠๆ‰€่ฆ‹ใ‹ใ‚‰่ปฝ็—‡ๅž‹ใฏSalla็—…ใ€้‡็—‡ๅž‹ใฏไนณๅ…้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡ใŠใ‚ˆใณใใฎไธญ้–“ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200572" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Free Sialic Acid Storage Disease"@en, "ใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019366 ; skos:prefLabel "้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja . -:2200573 - :hasNotificationNumber "122" ; - terms:description "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใฏ็—…็†ๅญฆ็š„ใซ่ฆๅฎšใ•ใ‚Œใ‚‹็ฅž็ตŒๅค‰ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็ฅž็ตŒ็ดฐ่ƒžใ€ๅฟƒ็ญ‹ใ€้ชจๆ ผ็ญ‹ใซ้›ปๅญๅฏ†ๅบฆใŒ้ซ˜ใใ€่‡ชๅฎถ่›ๅ…‰ใ‚’็™บใ™ใ‚‹ใƒชใƒใƒ•ใ‚นใƒใƒณ้ก†็ฒ’ใฎ่“„็ฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200573" ; - terms:source ; + + nando:hasNotificationNumber "121" ; + dcterms:description "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡ใฏ็—…็†ๅญฆ็š„ใซ่ฆๅฎšใ•ใ‚Œใ‚‹็ฅž็ตŒๅค‰ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€็ฅž็ตŒ็ดฐ่ƒžใ€ๅฟƒ็ญ‹ใ€้ชจๆ ผ็ญ‹ใซ้›ปๅญๅฏ†ๅบฆใŒ้ซ˜ใใ€่‡ชๅฎถ่›ๅ…‰ใ‚’็™บใ™ใ‚‹ใƒชใƒใƒ•ใ‚นใƒใƒณ้ก†็ฒ’ใฎ่“„็ฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใง้บไผใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200573" ; + dcterms:source ; a owl:Class ; - rdfs:label "Neuronal Ceroid Lipofuscinoses"@en, "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:label "Neuronal ceroid lipofuscinoses"@en, "ใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "NCL"@en ; - skos:closeMatch mondo:MONDO_0016295 ; + rdfs:subClassOf ; + skos:altLabel "NCL"@en, "ใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒŽใƒผใ‚ทใ‚น"@ja ; + skos:closeMatch obo:MONDO_0016295 ; skos:prefLabel "็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . -:2200574 - :hasNotificationNumber "139" ; - terms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€็ดฐ่ƒžๅ†…ใซใ‚ใ‚‹ๅฐๅ™จๅฎ˜ใฎไธ€ใคใงใ‚ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใ‚„็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใฃใฆใ€ๅˆ†่งฃใ•ใ‚Œใ‚‹ในใ็‰ฉ่ณชใŒ่€ๅปƒ็‰ฉใจใ—ใฆไฝ“ๅ†…ใซ่“„็ฉใ—ใฆใ—ใพใ†ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚่“„็ฉ็‰ฉ่ณชใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹75ใ€œ101ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200574" ; - terms:source ; + + nando:hasNotificationNumber "138" ; + dcterms:description "ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…ใฏใ€็ดฐ่ƒžๅ†…ใซใ‚ใ‚‹ๅฐๅ™จๅฎ˜ใฎไธ€ใคใงใ‚ใ‚‹ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใ‚„็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใฃใฆใ€ๅˆ†่งฃใ•ใ‚Œใ‚‹ในใ็‰ฉ่ณชใŒ่€ๅปƒ็‰ฉใจใ—ใฆไฝ“ๅ†…ใซ่“„็ฉใ—ใฆใ—ใพใ†ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚่“„็ฉ็‰ฉ่ณชใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹75ใ€œ101ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใ‚„ๆ‹…ไฝ“ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200574" ; + dcterms:source ; a owl:Class ; - rdfs:label "75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja, "Other lysosomal diseases"@en ; + rdfs:label "75ใ‹ใ‚‰101ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚‰ใ„ใใžใƒผใ‚€ใณใ‚‡ใ†"@ja-Hira, "75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja, "Other lysosomal diseases"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "75ใ‹ใ‚‰101ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒฉใ‚คใ‚ฝใ‚พใƒผใƒ ็—…"@ja . -:2200575 - :hasNotificationNumber "83" ; - terms:description "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡(Peroxisome Biogenesis Disorders; PBD)ใฏใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใฎ่†œใฎ็”Ÿๅˆๆˆใ‚„่›‹็™ฝใฎๅฑ€ๅœจใซใ‹ใ‹ใ‚ใ‚‹PEX้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ่‡ชไฝ“ใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใใ“ใซๅฑ€ๅœจใ™ในใ่›‹็™ฝใฎใ‹ใ‹ใ‚ใ‚‹ไปฃ่ฌๆฉŸ่ƒฝใŒๅบƒ็ฏ„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใพใงใซ็—…ๅ› ใจใ•ใ‚Œใ‚‹PEX้บไผๅญใฏ13ๅ€‹ๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎใ†ใก่‡ดๆญปๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใง็‚น็Šถ็Ÿณ็ฐๅŒ–ใ‚’ไผดใ†่ฟ‘ไฝๅ„ชไฝใฎๅ››่‚ข็Ÿญ็ธฎ็—‡Rhizomelic chondrodysplasia punctate (RCDP) type1ใฎ็—…ๅ› ใงใ‚ใ‚‹PEX7ใ‚’้™คใ12ๅ€‹ใฎPEX้บไผๅญ็•ฐๅธธ็—‡ใŒZellwegerใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใจใ—ใฆใ€่‡จๅบŠ็š„ใช้‡็—‡ๅบฆใซใ‚ˆใ‚Šๆœ€้‡็—‡ๅž‹ใฎZellweger็—‡ๅ€™็พค(Zellweger syndrome; ZS)ใ€ใ‚„ใ‚„่ปฝ็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(neonatal adrenoleukodystrophy; NALD)ใ€ๆˆไบบ็”Ÿๅญ˜ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ไนณๅ…ๅž‹Refsum็—…(infantile Refsum disease; IRD)ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200575" ; - terms:source ; - a owl:Class ; - rdfs:label "Peroxisome Biogenesis Disorders"@en, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019234, mondo:MONDO_0019609 ; + + nando:hasNotificationNumber "82" ; + dcterms:description "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡(Peroxisome Biogenesis Disorders; PBD)ใฏใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใฎ่†œใฎ็”Ÿๅˆๆˆใ‚„่›‹็™ฝใฎๅฑ€ๅœจใซใ‹ใ‹ใ‚ใ‚‹PEX้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ่‡ชไฝ“ใฎๅฝขๆˆ็•ฐๅธธใซใ‚ˆใ‚Šใ€ใใ“ใซๅฑ€ๅœจใ™ในใ่›‹็™ฝใฎใ‹ใ‹ใ‚ใ‚‹ไปฃ่ฌๆฉŸ่ƒฝใŒๅบƒ็ฏ„ใซ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใ“ใ‚Œใพใงใซ็—…ๅ› ใจใ•ใ‚Œใ‚‹PEX้บไผๅญใฏ13ๅ€‹ๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€ใ“ใฎใ†ใก่‡ดๆญปๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใง็‚น็Šถ็Ÿณ็ฐๅŒ–ใ‚’ไผดใ†่ฟ‘ไฝๅ„ชไฝใฎๅ››่‚ข็Ÿญ็ธฎ็—‡Rhizomelic chondrodysplasia punctate (RCDP) type1ใฎ็—…ๅ› ใงใ‚ใ‚‹PEX7ใ‚’้™คใ12ๅ€‹ใฎPEX้บไผๅญ็•ฐๅธธ็—‡ใŒZellwegerใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใจใ—ใฆใ€่‡จๅบŠ็š„ใช้‡็—‡ๅบฆใซใ‚ˆใ‚Šๆœ€้‡็—‡ๅž‹ใฎZellweger็—‡ๅ€™็พค(Zellweger syndrome; ZS)ใ€ใ‚„ใ‚„่ปฝ็—‡ใฎๆ–ฐ็”Ÿๅ…ๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(neonatal adrenoleukodystrophy; NALD)ใ€ๆˆไบบ็”Ÿๅญ˜ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ไนณๅ…ๅž‹Refsum็—…(infantile Refsum disease; IRD)ใฎ๏ผ“็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200575" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Peroxisome biogenesis disorders"@en, "ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PBD"@en, "PEX้บไผๅญ็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0019234 ; skos:prefLabel "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡"@ja . -:2200576 - :hasNotificationNumber "82" ; - terms:description "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(adrenoleukodystrophy; ALD)ใฏไธญๆžข็ฅž็ตŒใฎ็™ฝ่ณชใจๅ‰ฏ่…Žใฎ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ€๏ผ“ใ€œ10ๆญณใง็™บ็—‡ใ—ใฆๅคง่„ณๅŠ็ƒใฎๅบƒ็ฏ„ใช้€ฒ่กŒๆ€ง่„ฑ้ซ„ใจๅ‰ฏ่…ŽๆฉŸ่ƒฝไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹ๅฐๅ…ๅคง่„ณๅž‹ใ‚„20ๆญณไปฅ้™ใซ็—™ๆ€งๆญฉ่กŒใง็™บ็—‡ใ™ใ‚‹adrenomyeloneuropathy (AMN)ใ€ๆˆไบบใงๆ€งๆ ผๅค‰ๅŒ–ใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็ฒพ็ฅž็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ๆˆไบบๅคง่„ณๅž‹ใซใ€ๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใฎใฟใฎใ‚ฟใ‚คใƒ—ใชใฉๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚’ๆœ‰ใ—ใฆใ„ใ‚‹ใ€‚็—…ๅ› ใฏXq28ใซๅญ˜ๅœจใ™ใ‚‹ABCD1้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ—ใ‹ใ—ใใฎ็—…ๆ…‹ใซใคใ„ใฆใฏใปใจใ‚“ใฉ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚‚้บไผๅญๅค‰็•ฐใจใฏ็›ธ้–ขใŒ็„กใใ€่„ฑ้ซ„ใฎ็™บ็—‡ๆฉŸๅบใ‚„ๆฅต้•ท้Ž–่„‚่‚ช้…ธ่“„็ฉใฎ็—…ๆ…‹ใธใฎ้–ขไธŽใ‚‚ๆœช่งฃๆ˜Žใงใ‚ใ‚‹ใ€‚ใพใŸๅคง่„ณๅž‹ใฎๅ”ฏไธ€ใฎๆฒป็™‚ๆณ•ใฏ็™บ็—‡ๆ—ฉๆœŸใฎ้€ ่ก€็ดฐ่ƒž็งปๆคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200576" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:description "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ(adrenoleukodystrophy; ALD)ใฏไธญๆžข็ฅž็ตŒใฎ็™ฝ่ณชใจๅ‰ฏ่…Žใฎ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹X้€ฃ้Ž–ๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ€๏ผ“ใ€œ10ๆญณใง็™บ็—‡ใ—ใฆๅคง่„ณๅŠ็ƒใฎๅบƒ็ฏ„ใช้€ฒ่กŒๆ€ง่„ฑ้ซ„ใจๅ‰ฏ่…ŽๆฉŸ่ƒฝไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹ๅฐๅ…ๅคง่„ณๅž‹ใ‚„20ๆญณไปฅ้™ใซ็—™ๆ€งๆญฉ่กŒใง็™บ็—‡ใ™ใ‚‹adrenomyeloneuropathy (AMN)ใ€ๆˆไบบใงๆ€งๆ ผๅค‰ๅŒ–ใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็ฒพ็ฅž็—‡็Šถใง็™บ็—‡ใ™ใ‚‹ๆˆไบบๅคง่„ณๅž‹ใซใ€ๅ‰ฏ่…Žไธๅ…จ็—‡็Šถใฎใฟใฎใ‚ฟใ‚คใƒ—ใชใฉๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚’ๆœ‰ใ—ใฆใ„ใ‚‹ใ€‚็—…ๅ› ใฏXq28ใซๅญ˜ๅœจใ™ใ‚‹ABCD1้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ—ใ‹ใ—ใใฎ็—…ๆ…‹ใซใคใ„ใฆใฏใปใจใ‚“ใฉ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅคšๅฝฉใช่‡จๅบŠๅž‹ใ‚‚้บไผๅญๅค‰็•ฐใจใฏ็›ธ้–ขใŒ็„กใใ€่„ฑ้ซ„ใฎ็™บ็—‡ๆฉŸๅบใ‚„ๆฅต้•ท้Ž–่„‚่‚ช้…ธ่“„็ฉใฎ็—…ๆ…‹ใธใฎ้–ขไธŽใ‚‚ๆœช่งฃๆ˜Žใงใ‚ใ‚‹ใ€‚ใพใŸๅคง่„ณๅž‹ใฎๅ”ฏไธ€ใฎๆฒป็™‚ๆณ•ใฏ็™บ็—‡ๆ—ฉๆœŸใฎ้€ ่ก€็ดฐ่ƒž็งปๆคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200576" ; + dcterms:source ; a owl:Class ; - rdfs:label "Adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010247, mondo:MONDO_0018544 ; + rdfs:label "Adrenoleukodystrophy"@en, "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018544 ; skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200577 - :hasNotificationNumber "84" ; - terms:description "ใƒฌใƒ•ใ‚ตใƒ ็—…ใฏใ€โ€heredopathia atactica polyneuritiformisโ€ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๆ‚ฃ่€…ใฏ่‹ฑๅ›ฝใ‚„ๅŒ—ๆฌงใซๅคšใ„ใ€‚็„กๅ—…่ฆš็—‡ใƒปๆ—ฉๆœŸ็™บ็—‡ใฎ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใซๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ€้ญš้ฑ—็™ฌใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹phytanic-CoA hydroxylase (phyH) ใฎๆฌ ๆใซใ‚ˆใ‚Š่ก€ไธญใฎใƒ•ใ‚ฃใ‚ฟใƒณ้…ธใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200577" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:description "ใƒฌใƒ•ใ‚ตใƒ ็—…ใฏใ€โ€heredopathia atactica polyneuritiformisโ€ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€ๆ‚ฃ่€…ใฏ่‹ฑๅ›ฝใ‚„ๅŒ—ๆฌงใซๅคšใ„ใ€‚็„กๅ—…่ฆš็—‡ใƒปๆ—ฉๆœŸ็™บ็—‡ใฎ็ถฒ่†œ่‰ฒ็ด ๅค‰ๆ€ง็—‡ใซๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€้›ฃ่ดใ€ๅฐ่„ณๅคฑ่ชฟใ€้ญš้ฑ—็™ฌใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹phytanic-CoA hydroxylase (phyH) ใฎๆฌ ๆใซใ‚ˆใ‚Š่ก€ไธญใฎใƒ•ใ‚ฃใ‚ฟใƒณ้…ธใŒๅข—ๅŠ ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200577" ; + dcterms:source ; a owl:Class ; - rdfs:label "Refsum disease"@en, "ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Refsum disease"@en, "ใ‚Œใตใ•ใ‚€ใณใ‚‡ใ†"@ja-Hira, "ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Refsum็—…"@ja ; - skos:closeMatch mondo:MONDO_0009958 ; + skos:closeMatch obo:MONDO_0009958 ; skos:prefLabel "ใƒฌใƒ•ใ‚ตใƒ ็—…"@ja . -:2200578 - :hasNotificationNumber "85" ; - terms:description "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใ“ใ‚Œใ‚‰ใฎ้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใ‚„่†œใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใฎใซๅฟ…่ฆใชPEX้บไผๅญใฎ็•ฐๅธธ๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ2ใคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹103ใ€œ105ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200578" ; - terms:source ; + + nando:hasNotificationNumber "84" ; + dcterms:description "ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ™ใ‚‹้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅ˜็‹ฌๆฌ ๆ็—‡ใจใ€ใ“ใ‚Œใ‚‰ใฎ้…ต็ด ใ‚ฟใƒณใƒ‘ใ‚ฏใ‚„่†œใ‚ฟใƒณใƒ‘ใ‚ฏใ‚’ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ใซๅฑ€ๅœจใ•ใ›ใ‚‹ใฎใซๅฟ…่ฆใชPEX้บไผๅญใฎ็•ฐๅธธ๏ผˆใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ๅฝขๆˆ็•ฐๅธธ็—‡๏ผ‰ใฎ2ใคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚็–พๆ‚ฃใซใ‚ˆใฃใฆ็—‡็Šถใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹103ใ€œ105ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆง˜ใ€…ใชใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200578" ; + dcterms:source ; a owl:Class ; - rdfs:label "103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja, "Other peroxisomal diseases"@en ; + rdfs:label "103ใ‹ใ‚‰105ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใบใ‚‹ใŠใใ—ใใƒผใ‚€ใณใ‚‡ใ†"@ja-Hira, "103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja, "Other peroxisomal diseases"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "103ใ‹ใ‚‰105ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…"@ja . -:2200579 - :hasNotificationNumber "25" ; - terms:description "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€ง้Š…ไปฃ่ฌ็•ฐๅธธ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ่‚่‡“ใ‚’ใฏใ˜ใ‚๏ผŒๅคง่„ณๅŸบๅบ•้ƒจ๏ผŒ่ง’่†œใŠใ‚ˆใณ่…Ž่‡“ใชใฉใซ้Žๅ‰ฐใช้Š…ใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒ็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200579" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉๆ€ง้Š…ไปฃ่ฌ็•ฐๅธธ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ่‚่‡“ใ‚’ใฏใ˜ใ‚๏ผŒๅคง่„ณๅŸบๅบ•้ƒจ๏ผŒ่ง’่†œใŠใ‚ˆใณ่…Ž่‡“ใชใฉใซ้Žๅ‰ฐใช้Š…ใฎๆฒˆ็€ใ‚’่ชใ‚๏ผŒ็จฎใ€…ใฎ่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200579" ; + dcterms:source ; a owl:Class ; - rdfs:label "Wilson disease"@en, "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Wilson disease"@en, "ใ†ใƒใ‚‹ใใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Wilson็—…"@ja ; - skos:closeMatch mondo:MONDO_0010200 ; + skos:closeMatch obo:MONDO_0010200 ; skos:prefLabel "ใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—…"@ja . -:2200580 - :hasNotificationNumber "29" ; - terms:description "้Š…ใฎ่…ธ็ฎกใงใฎๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€่‘—ๆ˜Žใช้Š…ๆฌ ไน้šœๅฎณใ‚’ใใŸใ™XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚Š้‡็ฏคใชไธญๆžข็ฅž็ตŒ้šœๅฎณใ€็‰นๅพด็š„ใชkinky hairใ€็ตๅˆ็น”็•ฐๅธธ๏ผˆ่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎกใฎ่„†ๅผฑใƒป่›‡่กŒใ€้ชจ็ฒ—้ฌ†็—‡ใ€็šฎ่†šใƒป้–ข็ฏ€ใฎ้Žไผธๅฑ•๏ผ‰ใ‚’ใใŸใ™ใ€‚็ฅž็ตŒ้šœๅฎณใฏ็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ๆœˆใ”ใ‚ใซ็™บ็—‡ใ™ใ‚‹ใ€‚็ฅž็ตŒ้šœๅฎณ็™บ็—‡ๅ‰ใซใƒ’ใ‚นใƒใ‚ธใƒณ้Š…็šฎไธ‹ๆณจๅฐ„ใฎๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚Œใฐใ€็ฅž็ตŒ้šœๅฎณใฏไบˆ้˜ฒใชใ„ใ—ใฏ่ปฝๆธ›ใงใใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆฒป็™‚้–‹ๅง‹ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒ้šœๅฎณใฏๅ…จใๆ”นๅ–„ใ—ใชใ„ใ€‚็–ซๅญฆ๏ผšๆˆ‘ใŒๅ›ฝใงใฎ็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ็”ทๅญ็ด„12ไธ‡ไบบใซ1ไบบใจๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ”ใใพใ‚Œใซๅฅณๅญใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200580" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:description "้Š…ใฎ่…ธ็ฎกใงใฎๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Šใ€่‘—ๆ˜Žใช้Š…ๆฌ ไน้šœๅฎณใ‚’ใใŸใ™XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚้Š…ๆฌ ไนใซใ‚ˆใ‚Š้‡็ฏคใชไธญๆžข็ฅž็ตŒ้šœๅฎณใ€็‰นๅพด็š„ใชkinky hairใ€็ตๅˆ็น”็•ฐๅธธ๏ผˆ่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎกใฎ่„†ๅผฑใƒป่›‡่กŒใ€้ชจ็ฒ—้ฌ†็—‡ใ€็šฎ่†šใƒป้–ข็ฏ€ใฎ้Žไผธๅฑ•๏ผ‰ใ‚’ใใŸใ™ใ€‚็ฅž็ตŒ้šœๅฎณใฏ็”ŸๅพŒ๏ผ’๏ฝž๏ผ“ๆœˆใ”ใ‚ใซ็™บ็—‡ใ™ใ‚‹ใ€‚็ฅž็ตŒ้šœๅฎณ็™บ็—‡ๅ‰ใซใƒ’ใ‚นใƒใ‚ธใƒณ้Š…็šฎไธ‹ๆณจๅฐ„ใฎๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚Œใฐใ€็ฅž็ตŒ้šœๅฎณใฏไบˆ้˜ฒใชใ„ใ—ใฏ่ปฝๆธ›ใงใใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๆฒป็™‚้–‹ๅง‹ใŒ้…ใ‚Œใ‚‹ใจ็ฅž็ตŒ้šœๅฎณใฏๅ…จใๆ”นๅ–„ใ—ใชใ„ใ€‚็–ซๅญฆ๏ผšๆˆ‘ใŒๅ›ฝใงใฎ็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿ็”ทๅญ็ด„12ไธ‡ไบบใซ1ไบบใจๆƒณๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ”ใใพใ‚Œใซๅฅณๅญใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200580" ; + dcterms:source ; a owl:Class ; - rdfs:label "Menkes disease"@en, "ใƒกใƒณใ‚ฑใ‚น็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Menkes disease"@en, "ใ‚ใ‚“ใ‘ใ™ใณใ‚‡ใ†"@ja-Hira, "ใƒกใƒณใ‚ฑใ‚น็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Menkes็—…"@ja ; - skos:closeMatch mondo:MONDO_0010651 ; + skos:closeMatch obo:MONDO_0010651 ; skos:prefLabel "ใƒกใƒณใ‚ฑใ‚น็—…"@ja . -:2200581 - :hasNotificationNumber "26" ; - terms:description "ๆœฌ็—‡ๅ€™็พคใฏใƒกใƒณใ‚ฑใ‚น็—…ใฎ่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚่ฒฌไปป่›‹็™ฝใงใ‚ใ‚‹ATP7Aใฎๆดปๆ€งใŒใ‚ใ‚‹็จ‹ๅบฆๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€็—‡็ŠถใŒใƒกใƒณใ‚ฑใ‚น็—…ใ‚ˆใ‚Š่‘—ใ—ใ่ปฝใ„ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎก่›‡่กŒใชใฉใฎ็ตๅˆ็น”็•ฐ็ŠถใŒไธป็—‡็Šถใงใ‚ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚"@ja ; - terms:identifier "2200581" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "ๆœฌ็—‡ๅ€™็พคใฏใƒกใƒณใ‚ฑใ‚น็—…ใฎ่ปฝ็—‡ๅž‹ใงใ‚ใ‚‹ใ€‚่ฒฌไปป่›‹็™ฝใงใ‚ใ‚‹ATP7Aใฎๆดปๆ€งใŒใ‚ใ‚‹็จ‹ๅบฆๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹ใŸใ‚ใ€็—‡็ŠถใŒใƒกใƒณใ‚ฑใ‚น็—…ใ‚ˆใ‚Š่‘—ใ—ใ่ปฝใ„ใ€‚ๅพŒ้ ญ้ชจใซ่ง’ๆง˜ๅค‰ๅŒ–ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆญฉ่กŒ้šœๅฎณใ€่†€่ƒฑๆ†ฉๅฎคใ€่ก€็ฎก่›‡่กŒใชใฉใฎ็ตๅˆ็น”็•ฐ็ŠถใŒไธป็—‡็Šถใงใ‚ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200581" ; + dcterms:source ; a owl:Class ; - rdfs:label "Occipital horn syndrome"@en, "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010572 ; + rdfs:label "Occipital horn syndrome"@en, "ใŠใใ—ใดใŸใ‚‹ใƒปใปใƒผใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010572 ; skos:prefLabel "ใ‚ชใ‚ฏใ‚ทใƒ”ใ‚ฟใƒซใƒปใƒ›ใƒผใƒณ็—‡ๅ€™็พค"@ja . -:2200582 - :hasNotificationNumber "28" ; - terms:description "ใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ้‰„ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผŽไธญๆžข็ฅž็ตŒ๏ผŒ่‚่‡“๏ผŒ่„พ่‡“ใชใฉใ‚’ไธญๅฟƒใซๅคšๅฒใซใ‚ใŸใ‚‹่‡“ๅ™จใซ้‰„ใŒๆฒˆ็€ใ™ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200582" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎ้‰„ไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹๏ผŽไธญๆžข็ฅž็ตŒ๏ผŒ่‚่‡“๏ผŒ่„พ่‡“ใชใฉใ‚’ไธญๅฟƒใซๅคšๅฒใซใ‚ใŸใ‚‹่‡“ๅ™จใซ้‰„ใŒๆฒˆ็€ใ™ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200582" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aceruloplasminemia"@en, "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡"@ja ; + rdfs:label "Aceruloplasminemia"@en, "ใ‚€ใ›ใ‚‹ใ‚ใทใ‚‰ใ™ใฟใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011426 ; + rdfs:subClassOf ; + skos:altLabel "Aceruloplasminaemia"@en ; + skos:closeMatch obo:MONDO_0011426 ; skos:prefLabel "็„กใ‚ปใƒซใƒญใƒ—ใƒฉใ‚นใƒŸใƒณ่ก€็—‡"@ja . -:2200583 - :hasNotificationNumber "24" ; - terms:description "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ณๅ†…ใซๆฏ’ๆ€งใฎๅผทใ„ไบœ็กซ้…ธใŒๅคง้‡ใซ่“„็ฉใ—้‡็ฏคใช่„ณ้šœๅฎณใ‚’็คบใ—ใ€่‘—ๆ˜Žใช็ฅž็ตŒ็ดฐ่ƒžใฎ่„ฑ่ฝใ‚„ๅคง่„ณ็™ฝ่ณช่„ฑ้ซ„ใ€ๅคš็™บๆ€งใฎ็ฉบๆดžๆ€ง็—…ๅค‰ใ€ใ‚ฐใƒชใ‚ชใƒผใ‚ทใ‚นใ€็šฎ่ณชๆทฑ้ƒจใฎๆตท็ถฟ็Šถๅค‰ๆ€งใจๅด่„ณๅฎคใฎๆ‹กๅคงใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใ€ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200583" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใŒๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่„ณๅ†…ใซๆฏ’ๆ€งใฎๅผทใ„ไบœ็กซ้…ธใŒๅคง้‡ใซ่“„็ฉใ—้‡็ฏคใช่„ณ้šœๅฎณใ‚’็คบใ—ใ€่‘—ๆ˜Žใช็ฅž็ตŒ็ดฐ่ƒžใฎ่„ฑ่ฝใ‚„ๅคง่„ณ็™ฝ่ณช่„ฑ้ซ„ใ€ๅคš็™บๆ€งใฎ็ฉบๆดžๆ€ง็—…ๅค‰ใ€ใ‚ฐใƒชใ‚ชใƒผใ‚ทใ‚นใ€็šฎ่ณชๆทฑ้ƒจใฎๆตท็ถฟ็Šถๅค‰ๆ€งใจๅด่„ณๅฎคใฎๆ‹กๅคงใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้กž็ธ็–พๆ‚ฃใจใ—ใฆใ€ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200583" ; + dcterms:source ; a owl:Class ; - rdfs:label "sulfite oxidase deficiency"@en, "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010089 ; + rdfs:label "Sulfite oxidase deficiency"@en, "ใ‚ใ‚Šใ‚…ใ†ใ•ใ‚“ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010089 ; skos:prefLabel "ไบœ็กซ้…ธ้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200584 - :hasNotificationNumber "27" ; - terms:description "่…ธ็ฎกใ‹ใ‚‰ใฎไบœ้‰›ๅธๅŽ้šœๅฎณใ‚’็—…ๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—‡็Šถใฏ็—…ๅใฎ้€šใ‚Š็šฎ่†š็—‡็ŠถใŒไธญๅฟƒใงใ‚ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200584" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "่…ธ็ฎกใ‹ใ‚‰ใฎไบœ้‰›ๅธๅŽ้šœๅฎณใ‚’็—…ๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—‡็Šถใฏ็—…ๅใฎ้€šใ‚Š็šฎ่†š็—‡็ŠถใŒไธญๅฟƒใงใ‚ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200584" ; + dcterms:source ; a owl:Class ; - rdfs:label "Acrodermatitis enteropathica"@en, "ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008713 ; + rdfs:label "Acrodermatitis enteropathica"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใกใ‚‡ใ†ใ›ใ„ใ—ใŸใ‚“ใฒใตใˆใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008713 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่…ธๆ€ง่‚ข็ซฏ็šฎ่†š็‚Ž"@ja . -:2200585 - :hasNotificationNumber "30" ; - terms:description "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ไบœ้‰›ใ‚„้Š…ใชใฉใฎ้‡‘ๅฑž๏ผˆๅพฎ้‡ๅ…ƒ็ด ๏ผ‰ใฎๅธๅŽใ‚„่ปข้€ใซ้–ขใ‚ใ‚‹่›‹็™ฝ่ณชใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใ€่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹107ใ€œ112ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ้‡‘ๅฑžไปฃ่ฌใซ้šœๅฎณใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200585" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ไบœ้‰›ใ‚„้Š…ใชใฉใฎ้‡‘ๅฑž๏ผˆๅพฎ้‡ๅ…ƒ็ด ๏ผ‰ใฎๅธๅŽใ‚„่ปข้€ใซ้–ขใ‚ใ‚‹่›‹็™ฝ่ณชใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใ€่“„็ฉใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚‹ๆง˜ใ€…ใช้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹107ใ€œ112ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ้‡‘ๅฑžไปฃ่ฌใซ้šœๅฎณใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200585" ; + dcterms:source ; a owl:Class ; - rdfs:label "107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of metal metabolism"@en ; + rdfs:label "107ใ‹ใ‚‰112ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ‚“ใžใใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of metal metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "107ใ‹ใ‚‰112ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡‘ๅฑžไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200586 - :hasNotificationNumber "80" ; - terms:description "ใƒ—ใƒชใƒณใ‚ตใƒซใƒ™ใƒผใ‚ธ้…ต็ด ใงใ‚ใ‚‹ใ€ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณ-ใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆHPRT๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซใปใผๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒ—ใƒชใƒณไฝ“ใฎๅˆๆˆใŒไธŠๆ˜‡ใ—ใ€้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™ใปใ‹ใ€ไธ้šๆ„้‹ๅ‹•ใ€็ญ‹็กฌ็›ดใ€็ฒพ็ฅž้…ๆปžใ€็‰นๆœ‰ใฎ่‡ชๅ’ฌ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹X้€ฃ้Ž–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใงใ€ใพใ‚Œใซๅฅณๅ…ใฎ็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200586" ; - terms:source ; + + nando:hasNotificationNumber "79" ; + dcterms:description "ใƒ—ใƒชใƒณใ‚ตใƒซใƒ™ใƒผใ‚ธ้…ต็ด ใงใ‚ใ‚‹ใ€ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณ-ใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ๏ผˆHPRT๏ผ‰ใŒๅ…ˆๅคฉ็š„ใซใปใผๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ใƒ—ใƒชใƒณไฝ“ใฎๅˆๆˆใŒไธŠๆ˜‡ใ—ใ€้ซ˜ๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™ใปใ‹ใ€ไธ้šๆ„้‹ๅ‹•ใ€็ญ‹็กฌ็›ดใ€็ฒพ็ฅž้…ๆปžใ€็‰นๆœ‰ใฎ่‡ชๅ’ฌ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹X้€ฃ้Ž–ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚XๆŸ“่‰ฒไฝ“ไธๆดปๅŒ–ใฎๅใ‚Šใงใ€ใพใ‚Œใซๅฅณๅ…ใฎ็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200586" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lesch-Nyhan syndrome"@en, "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Lesch-Nyhan syndrome"@en, "ใฒใฝใใ•ใ‚“ใกใ‚“ใใ‚ใซใ‚“ใปใ™ใปใ‚Šใผใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "HPRT"@en, "Hypoxanthine-guanine phosphoribosyltransferase "@en, "Hypoxanthine-guanine phosphoribosyltransferaseใ€€deficiency"@en, "ใƒฌใƒƒใ‚ทใƒฅใƒปใƒŠใ‚คใƒใƒณ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010298, mondo:MONDO_0016088 ; + rdfs:subClassOf ; + skos:altLabel "HPRT deficiency"@en, "Hypoxanthine-guanine phosphoribosyltransferase deficiency"@en, "Lesch-Nyhan็—‡ๅ€™็พค"@ja, "ใƒฌใƒƒใ‚ทใƒฅใƒปใƒŠใ‚คใƒใƒณ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010298, obo:MONDO_0016088 ; skos:prefLabel "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‚ฐใ‚ขใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200587 - :hasNotificationNumber "76" ; - terms:description "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(APRT)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚APRTใฏใ€ใ‚ขใƒ‡ใƒ‹ใƒณใจใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒ”ใƒญใƒชใƒณ้…ธใ‚ˆใ‚Šใƒ”ใƒญใƒชใƒณ้…ธใจAMPใ‚’ๅˆๆˆใ™ใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€‚APRTใŒๆฌ ๆใ™ใ‚‹ใจใ€ใ‚ขใƒ‡ใƒ‹ใƒณใฏใ‚ญใ‚ตใƒณใƒใƒณ้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ใซใ‚ˆใ‚Š่‘—ใ—ใๆบถ่งฃๅบฆใŒไฝŽใ่…Žๆฏ’ๆ€งใŒๅผทใ„2,8-ใ‚ธใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใƒ‡ใƒ‹ใƒณ(DHA)ใซใพใงไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚APRTๆฌ ๆ็—‡ใงใฏใ€2,8-DHAใ‚’ๆˆๅˆ†ใจใ™ใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹(ๅ…จๅฐฟ่ทฏ็ต็Ÿณ็—‡ใฎ0.1๏ฝž0.2๏ผ…)ใ€‚ไนณๅนผๅ…ๆœŸใ‚„ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‹ใ‚‰่…Žไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใพใง็—‡็Šถใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200587" ; - terms:source ; + + nando:hasNotificationNumber "75" ; + dcterms:description "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผ(APRT)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚APRTใฏใ€ใ‚ขใƒ‡ใƒ‹ใƒณใจใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒ”ใƒญใƒชใƒณ้…ธใ‚ˆใ‚Šใƒ”ใƒญใƒชใƒณ้…ธใจAMPใ‚’ๅˆๆˆใ™ใ‚‹ๅๅฟœใ‚’่งฆๅช’ใ™ใ‚‹้…ต็ด ใงใ‚ใ‚‹ใ€‚APRTใŒๆฌ ๆใ™ใ‚‹ใจใ€ใ‚ขใƒ‡ใƒ‹ใƒณใฏใ‚ญใ‚ตใƒณใƒใƒณ้…ธๅŒ–้‚„ๅ…ƒ้…ต็ด ใซใ‚ˆใ‚Š่‘—ใ—ใๆบถ่งฃๅบฆใŒไฝŽใ่…Žๆฏ’ๆ€งใŒๅผทใ„2,8-ใ‚ธใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใ‚ขใƒ‡ใƒ‹ใƒณ(DHA)ใซใพใงไปฃ่ฌใ•ใ‚Œใ‚‹ใ€‚APRTๆฌ ๆ็—‡ใงใฏใ€2,8-DHAใ‚’ๆˆๅˆ†ใจใ™ใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹(ๅ…จๅฐฟ่ทฏ็ต็Ÿณ็—‡ใฎ0.1๏ฝž0.2๏ผ…)ใ€‚ไนณๅนผๅ…ๆœŸใ‚„ๅฐๅ…ๆœŸใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒ็‰นๅพดใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‹ใ‚‰่…Žไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใพใง็—‡็Šถใฏๅคšๆง˜ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200587" ; + dcterms:source ; a owl:Class ; - rdfs:label "Adenine phosphoribosyltransferase deficiency"@en, "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Adenine phosphoribosyltransferase deficiency"@en, "ใ‚ใงใซใ‚“ใปใ™ใปใ‚Šใผใ—ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013869 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013869 ; skos:prefLabel "ใ‚ขใƒ‡ใƒ‹ใƒณใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200588 - :hasNotificationNumber "78" ; - terms:description "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ใ‚ญใ‚ตใƒณใƒใƒณใ€ใŠใ‚ˆใณใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ๅฐฟ้…ธใธใฎไปฃ่ฌใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ญใ‚ตใƒณใƒใƒณ่„ฑๆฐด็ด ้…ต็ด ๏ผˆXDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ๅฐฟ้…ธ้…ธๆ€งไฝŽไธ‹ใ‹ใ‚‰ใฎไฝŽๅฐฟ้…ธ่ก€็—‡ใ€ๆ™‚ใจใ—ใฆใ‚ญใ‚ตใƒณใƒใƒณ็ต็Ÿณใซใ‚ˆใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚XDHๅ˜็‹ฌๆฌ ๆใฎใ‚ฟใ‚คใƒ—Iใ€ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๏ผˆMoCo๏ผ‰ใฎ็กซ้ป„ไป˜ๅŠ ใฎ้…ต็ด ใงใ‚ใ‚‹MoCo็กซๅŒ–้…ต็ด ๏ผˆMOCOS๏ผ‰ใซใ‚ˆใ‚Šใ€ใใ‚Œใ‚’ๅŸบ่ณชใจใ™ใ‚‹XDHใŠใ‚ˆใณใ‚ขใƒซใƒ‡ใƒ’ใƒ‰้…ธๅŒ–้…ต็ด ๏ผˆAO๏ผ‰ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—IIใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใจใ‚‚ใซๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใŒใ€ๅฐฟ่ทฏ็ต็Ÿณไปฅๅค–ใฎ็—‡็Šถใฏ็‰นใซ่ฆ‹ใ‚‰ใ‚ŒใšไบˆๅพŒ่‰ฏๅฅฝใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200588" ; - terms:source ; + + nando:hasNotificationNumber "77" ; + dcterms:description "ใƒ’ใƒใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ใ‚ญใ‚ตใƒณใƒใƒณใ€ใŠใ‚ˆใณใ‚ญใ‚ตใƒณใƒใƒณใ‹ใ‚‰ๅฐฟ้…ธใธใฎไปฃ่ฌใ‚’่งฆๅช’ใ™ใ‚‹ใ‚ญใ‚ตใƒณใƒใƒณ่„ฑๆฐด็ด ้…ต็ด ๏ผˆXDH๏ผ‰ใฎๆฌ ๆใซใ‚ˆใ‚Šใ€ๅฐฟ้…ธ้…ธๆ€งไฝŽไธ‹ใ‹ใ‚‰ใฎไฝŽๅฐฟ้…ธ่ก€็—‡ใ€ๆ™‚ใจใ—ใฆใ‚ญใ‚ตใƒณใƒใƒณ็ต็Ÿณใซใ‚ˆใ‚‹ๅฐฟ่ทฏ็ต็Ÿณใ‚’็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚XDHๅ˜็‹ฌๆฌ ๆใฎใ‚ฟใ‚คใƒ—Iใ€ใƒขใƒชใƒ–ใƒ‡ใƒณ่ฃœ้…ต็ด ๏ผˆMoCo๏ผ‰ใฎ็กซ้ป„ไป˜ๅŠ ใฎ้…ต็ด ใงใ‚ใ‚‹MoCo็กซๅŒ–้…ต็ด ๏ผˆMOCOS๏ผ‰ใซใ‚ˆใ‚Šใ€ใใ‚Œใ‚’ๅŸบ่ณชใจใ™ใ‚‹XDHใŠใ‚ˆใณใ‚ขใƒซใƒ‡ใƒ’ใƒ‰้…ธๅŒ–้…ต็ด ๏ผˆAO๏ผ‰ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ‚ฟใ‚คใƒ—IIใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ใจใ‚‚ใซๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใŒใ€ๅฐฟ่ทฏ็ต็Ÿณไปฅๅค–ใฎ็—‡็Šถใฏ็‰นใซ่ฆ‹ใ‚‰ใ‚ŒใšไบˆๅพŒ่‰ฏๅฅฝใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200588" ; + dcterms:source ; a owl:Class ; - rdfs:label "Xanthinuria"@en, "ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡"@ja ; + rdfs:label "Xanthinuria"@en, "ใใ•ใ‚“ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000721, mondo:MONDO_0018106 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000721 ; skos:prefLabel "ใ‚ญใ‚ตใƒณใƒใƒณๅฐฟ็—‡"@ja . -:2200589 - :hasNotificationNumber "79" ; - terms:description "ๅฐฟ้…ธใฏใƒ’ใƒˆใงใฎใƒ—ใƒชใƒณไฝ“ไปฃ่ฌใฎๆœ€็ต‚็”ฃ็‰ฉใงใ‚ใ‚Šใ€ไฝ“ๅ†…ใฎๅฐฟ้…ธ้‡ใฏใ€ๅฐฟ้…ธใฎ็”ฃ็”ŸใจๆŽ’ๆณ„ใฎใƒใƒฉใƒณใ‚นใซใ‚ˆใ‚Š่ฆๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธใฏใ€ๅฐฟ้…ธใฎไฝ“ๅค–ใธใฎๆŽ’ๆณ„ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ๅˆ†ๅญใงใ‚ใ‚‹ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ก€ไธญใƒปๅฐฟไธญใฎๅฐฟ้…ธๆฟƒๅบฆ็•ฐๅธธใ‚’ใใŸใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅฐฟ้…ธใฎๅ†ๅธๅŽใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆURAT1ใ€URATv1/GLUT9๏ผ‰ใฎ็•ฐๅธธ๏ผˆ่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™๏ผ‰ใจใ€ๅฐฟ้…ธใฎๅˆ†ๆณŒใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆNPT4ใ€ABCG2/BCRP๏ผ‰ใฎ็•ฐๅธธ๏ผˆ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹๏ผ‰ใŒใจใ‚‚ใซ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใฎ็ด„10%ใŒๅฐฟ้…ธ็ต็Ÿณใ‚„้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใ‚’ๅ‘ˆใ—ใ€้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใฎ20~30%ใฏๅ†็™บใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฏๅฐฟ้…ธ็ต็Ÿณใ‚„็—›้ขจใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200589" ; - terms:source ; + + nando:hasNotificationNumber "78" ; + dcterms:description "ๅฐฟ้…ธใฏใƒ’ใƒˆใงใฎใƒ—ใƒชใƒณไฝ“ไปฃ่ฌใฎๆœ€็ต‚็”ฃ็‰ฉใงใ‚ใ‚Šใ€ไฝ“ๅ†…ใฎๅฐฟ้…ธ้‡ใฏใ€ๅฐฟ้…ธใฎ็”ฃ็”ŸใจๆŽ’ๆณ„ใฎใƒใƒฉใƒณใ‚นใซใ‚ˆใ‚Š่ฆๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธใฏใ€ๅฐฟ้…ธใฎไฝ“ๅค–ใธใฎๆŽ’ๆณ„ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ๅˆ†ๅญใงใ‚ใ‚‹ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ก€ไธญใƒปๅฐฟไธญใฎๅฐฟ้…ธๆฟƒๅบฆ็•ฐๅธธใ‚’ใใŸใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅฐฟ้…ธใฎๅ†ๅธๅŽใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆURAT1ใ€URATv1/GLUT9๏ผ‰ใฎ็•ฐๅธธ๏ผˆ่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใ‚’ใใŸใ™๏ผ‰ใจใ€ๅฐฟ้…ธใฎๅˆ†ๆณŒใซๅƒใใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ๏ผˆNPT4ใ€ABCG2/BCRP๏ผ‰ใฎ็•ฐๅธธ๏ผˆ้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฎๅŽŸๅ› ใจใชใ‚‹๏ผ‰ใŒใจใ‚‚ใซ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่…Žๆ€งไฝŽๅฐฟ้…ธ่ก€็—‡ใฎ็ด„10%ใŒๅฐฟ้…ธ็ต็Ÿณใ‚„้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใ‚’ๅ‘ˆใ—ใ€้‹ๅ‹•ๅพŒๆ€ฅๆ€ง่…Žไธๅ…จใฎ20~30%ใฏๅ†็™บใ™ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ซ˜ๅฐฟ้…ธ่ก€็—‡ใฏๅฐฟ้…ธ็ต็Ÿณใ‚„็—›้ขจใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200589" ; + dcterms:source ; a owl:Class ; - rdfs:label "Genetic defects in urate transporters"@en, "ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡"@ja ; + rdfs:label "Genetic defects in urate transporters"@en, "ใซใ‚‡ใ†ใ•ใ‚“ใจใ‚‰ใ‚“ใ™ใฝใƒผใŸใƒผใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅฐฟ้…ธใƒˆใƒฉใƒณใ‚นใƒใƒผใ‚ฟใƒผ็•ฐๅธธ็—‡"@ja . -:2200590 - :hasNotificationNumber "77" ; - terms:description "ใƒ”ใƒชใƒŸใ‚ธใƒณๅˆๆˆ็ณปใซใ‘ใ‚‹ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ‚ชใƒญใƒƒใƒˆ้…ธใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใจใ‚ชใƒญใƒใ‚ธใƒณ๏ผ•โ€ฒ-ใƒชใƒณ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ใฎไธกๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๅฐฟไธญใ‚ชใƒญใƒˆ้…ธใฎๅข—ๅŠ ใ€ๅฐฟไธญใ‚ชใƒญใƒใ‚ธใƒณใฎๅข—ๅŠ ใ€ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธใฎ็”ฃ็”ŸไฝŽไธ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200590" ; - terms:source ; + + nando:hasNotificationNumber "76" ; + dcterms:description "ใƒ”ใƒชใƒŸใ‚ธใƒณๅˆๆˆ็ณปใซใ‘ใ‚‹ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฉŸ่ƒฝไฝŽไธ‹ใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎ้…ต็ด ใฏใ‚ชใƒญใƒƒใƒˆ้…ธใƒ›ใ‚นใƒ›ใƒชใƒœใ‚ทใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผใจใ‚ชใƒญใƒใ‚ธใƒณ๏ผ•โ€ฒ-ใƒชใƒณ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ใฎไธกๆดปๆ€งใ‚’ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๅฐฟไธญใ‚ชใƒญใƒˆ้…ธใฎๅข—ๅŠ ใ€ๅฐฟไธญใ‚ชใƒญใƒใ‚ธใƒณใฎๅข—ๅŠ ใ€ใ‚ฆใƒชใ‚ธใƒณ1ใƒชใƒณ้…ธใฎ็”ฃ็”ŸไฝŽไธ‹ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200590" ; + dcterms:source ; a owl:Class ; - rdfs:label "Orotic aciduria"@en, "ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡"@ja ; + rdfs:label "Orotic aciduria"@en, "ใŠใ‚ใจใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009797 ; + rdfs:subClassOf ; + skos:altLabel "ใ‚ชใƒญใƒใƒณ้…ธๅฐฟ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009797 ; skos:prefLabel "ใ‚ชใƒญใƒˆ้…ธๅฐฟ็—‡"@ja . -:2200591 - :hasNotificationNumber "81" ; - terms:description "DNAใ‚„RNAใฎๆง‹ๆˆ็‰ฉ่ณชใงใ‚ใ‚‹ใƒ—ใƒชใƒณไฝ“ใจใƒ”ใƒชใƒŸใ‚ธใƒณไฝ“ใฎๅˆๆˆใ‚„่งฃใซใฏใ€็จฎใ€…ใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใŠใ‚Šใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ ธ้…ธไปฃ่ฌใ‚„ใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใจๅฏ†ๆŽฅใซ้–ข้€ฃใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใฃใฆใ€้šœๅฎณใ•ใ‚ŒใŸ้…ต็ด ใซใ‚ˆใฃใฆ็—‡็Šถใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹114ใ€œ118ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200591" ; - terms:source ; + + nando:hasNotificationNumber "80" ; + dcterms:description "DNAใ‚„RNAใฎๆง‹ๆˆ็‰ฉ่ณชใงใ‚ใ‚‹ใƒ—ใƒชใƒณไฝ“ใจใƒ”ใƒชใƒŸใ‚ธใƒณไฝ“ใฎๅˆๆˆใ‚„่งฃใซใฏใ€็จฎใ€…ใฎ้…ต็ด ใŒ้–ขไธŽใ—ใฆใŠใ‚Šใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€ใใฎ้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆ ธ้…ธไปฃ่ฌใ‚„ใ‚จใƒใƒซใ‚ฎใƒผไปฃ่ฌใจๅฏ†ๆŽฅใซ้–ข้€ฃใ—ใฆใ„ใ‚‹ใ“ใจใ‚‚ใ‚ใฃใฆใ€้šœๅฎณใ•ใ‚ŒใŸ้…ต็ด ใซใ‚ˆใฃใฆ็—‡็Šถใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹114ใ€œ118ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200591" ; + dcterms:source ; a owl:Class ; - rdfs:label "114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of purine and pyrimidine metabolism"@en ; + rdfs:label "114ใ‹ใ‚‰118ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใทใ‚Šใ‚“ใดใ‚Šใฟใ˜ใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of purine and pyrimidine metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "114ใ‹ใ‚‰118ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ—ใƒชใƒณใƒ”ใƒชใƒŸใ‚ธใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200592 - :hasNotificationNumber "74" ; - terms:description "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡(HFM)ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹PCFT (proton-coupled folate transporter)ใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200592" ; - terms:source ; + + nando:hasNotificationNumber "73" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡(HFM)ใฏ่‘‰้…ธใฎ่ผธ้€ไฝ“ใงใ‚ใ‚‹PCFT (proton-coupled folate transporter)ใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200592" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary folate malabsorption"@en, "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009238 ; + rdfs:label "Hereditary folate malabsorption"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ˆใ†ใ•ใ‚“ใใ‚…ใ†ใ—ใ‚…ใ†ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital folate malabsorption"@en ; + skos:closeMatch obo:MONDO_0009238 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡"@ja . -:2200593 - :hasNotificationNumber "75" ; - terms:description "้บไผ็š„ใช็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใฆใ€่…ธ็ฎกใ‹ใ‚‰ใฎใƒ“ใ‚ฟใƒŸใƒณ้กžใฎๅธๅŽไธๅ…จใ‚„่ปข้€้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹120ใฎๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200593" ; - terms:source ; + + nando:hasNotificationNumber "74" ; + dcterms:description "้บไผ็š„ใช็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ—ใฆใ€่…ธ็ฎกใ‹ใ‚‰ใฎใƒ“ใ‚ฟใƒŸใƒณ้กžใฎๅธๅŽไธๅ…จใ‚„่ปข้€้šœๅฎณใซใ‚ˆใ‚Šใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹120ใฎๅ…ˆๅคฉๆ€ง่‘‰้…ธๅธๅŽไธๅ…จ็—‡ใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200593" ; + dcterms:source ; a owl:Class ; - rdfs:label "120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of vitamin metabolism"@en ; + rdfs:label "120ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใณใŸใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorders of vitamin metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "120ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใƒ“ใ‚ฟใƒŸใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200594 - :hasNotificationNumber "54" ; - terms:description "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€3็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธใ€”ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ€ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆTrp๏ผ‰ใ€•ๆฐด้…ธๅŒ–้…ต็ด ใซๅ…ฑ้€šใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชไปฃ่ฌ็•ฐๅธธใซใ‚ˆใ‚ŠBH4ใฎๆฌ ไนใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹1๏ผ‰ใ€‚ไธ€่ˆฌใซใฏ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆ้ซ˜Phe่ก€็—‡๏ผ‰ใ‚’ไผดใ†ใ‚‚ใฎใ‚’ใ•ใ—ใฆใ„ใ†ใŒใ€ๅบƒ็พฉใซใฏ้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚‚ๅซใพใ‚Œใ‚‹๏ผ’๏ผ‰ใ€‚ๅ‰่€…ใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใจ็•ฐใชใ‚Šใ€ไฝŽใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ้ฃŸใซใ‚ˆใ‚‹่ก€ๆธ…Pheๅ€คใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€้‡็—‡ใง้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็—‡็ŠถใŒ็™บ็—‡ใ™ใ‚‹ใŒใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ—ใ€็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๅพŒ่€…ใฏ็€ฌๅท็—…ใจใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใง้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ—ใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใŸใ‚ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200594" ; - terms:source ; - a owl:Class ; - rdfs:label "Tetrahydrobiopterin deficiency"@en, "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja . + + nando:hasNotificationNumber "54" ; + dcterms:description "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€3็จฎใฎ่Šณ้ฆ™ๆ—ใ‚ขใƒŸใƒŽ้…ธใ€”ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ๏ผˆPhe๏ผ‰ใ€ใƒใƒญใ‚ทใƒณ๏ผˆTyr๏ผ‰ใ€ใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆTrp๏ผ‰ใ€•ๆฐด้…ธๅŒ–้…ต็ด ใซๅ…ฑ้€šใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใƒ†ใƒˆใƒฉใƒ’ใƒ‰ใƒญใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณ๏ผˆBH4๏ผ‰ใฎๅ…ˆๅคฉ็š„ใชไปฃ่ฌ็•ฐๅธธใซใ‚ˆใ‚ŠBH4ใฎๆฌ ไนใ‚’ใใŸใ™้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹1๏ผ‰ใ€‚ไธ€่ˆฌใซใฏ้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡๏ผˆ้ซ˜Phe่ก€็—‡๏ผ‰ใ‚’ไผดใ†ใ‚‚ใฎใ‚’ใ•ใ—ใฆใ„ใ†ใŒใ€ๅบƒ็พฉใซใฏ้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚‚ๅซใพใ‚Œใ‚‹๏ผ’๏ผ‰ใ€‚ๅ‰่€…ใฏใƒ•ใ‚งใƒ‹ใƒซใ‚ฑใƒˆใƒณๅฐฟ็—‡๏ผˆPKU๏ผ‰ใจ็•ฐใชใ‚Šใ€ไฝŽใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ้ฃŸใซใ‚ˆใ‚‹่ก€ๆธ…Pheๅ€คใฎใ‚ณใƒณใƒˆใƒญใƒผใƒซใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€้‡็—‡ใง้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็—‡็ŠถใŒ็™บ็—‡ใ™ใ‚‹ใŒใ€ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใง็™บ่ฆ‹ใ—ใ€็™บ็—‡ๅ‰ใซๆฒป็™‚ใ‚’้–‹ๅง‹ใ™ใ‚ŒใฐไบˆๅพŒใฏ่‰ฏๅฅฝใงใ‚ใ‚‹ใ€‚ๅพŒ่€…ใฏ็€ฌๅท็—…ใจใ‚ปใƒ”ใ‚ขใƒ—ใƒ†ใƒชใƒณ้‚„ๅ…ƒ้…ต็ด ๏ผˆSR๏ผ‰ๆฌ ๆ็—‡ใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใฎใฟใง้ซ˜Phe่ก€็—‡ใ‚’ไผดใ‚ใชใ„ใŸใ‚ๆ–ฐ็”Ÿๅ…ใƒžใ‚นใƒปใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใงใฏ็™บ่ฆ‹ใงใใšใ€็ฅž็ตŒ็—‡็Šถใ‚’็™บ็—‡ใ—ใฆใ‹ใ‚‰่จบๆ–ญใ•ใ‚Œใ‚‹ใŸใ‚ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200594" ; + dcterms:source ; + a owl:Class ; + rdfs:label "BH4ๆฌ ๆ็—‡"@ja, "Tetrahydrobiopterin deficiency"@en, "ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0016543 ; + skos:prefLabel "BH4ๆฌ ๆ็—‡"@ja . -:2200595 - :hasNotificationNumber "52" ; - terms:description "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆTH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใ‚’L-ใƒ‰ใƒผใƒ‘ใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใชใฉใฎใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณใฎๅ…จ่ˆฌใฎๅˆๆˆใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚่„ณๅ†…ใงใฏ้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใŒ็™บ็—‡ใ—ใ€L-DOPAใซๅๅฟœใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใŒใ€้€ฒ่กŒๆ€งใฎ่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒไธปไฝ“ใ‚’ๅ ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200595" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:description "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๏ผˆTH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒใƒญใ‚ทใƒณใ‚’L-ใƒ‰ใƒผใƒ‘ใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใชใฉใฎใ‚ซใƒ†ใ‚ณใƒผใƒซใ‚ขใƒŸใƒณใฎๅ…จ่ˆฌใฎๅˆๆˆใŒไฝŽไธ‹ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹1)ใ€‚่„ณๅ†…ใงใฏ้€ฒ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ้šœๅฎณใŒ็™บ็—‡ใ—ใ€L-DOPAใซๅๅฟœใ™ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใŒใ€้€ฒ่กŒๆ€งใฎ่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒไธปไฝ“ใ‚’ๅ ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200595" ; + dcterms:source ; a owl:Class ; - rdfs:label "Tyrosine hydroxylase deficiency"@en, "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Tyrosine hydroxylase deficiency"@en, "ใกใ‚ใ—ใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0100064 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0100064 ; skos:prefLabel "ใƒใƒญใ‚ทใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200596 - :hasNotificationNumber "55" ; - terms:description "AADCๆฌ ๆ็—‡ใฏ๏ผฌ-ใƒ‰ใƒผใƒ‘ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณ๏ผˆ5HT๏ผ‰ใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ้บไผๅญ๏ผˆDDC๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1990ๅนดใ‚คใ‚ฎใƒชใ‚นใฎHylandใ‚‰ใซใ‚ˆใฃใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ1๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžใŠใ‚ˆใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎHVAใŠใ‚ˆใณ๏ผ•HIAAใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎใชใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚"@ja ; - terms:identifier "2200596" ; - terms:source ; + + nando:hasNotificationNumber "55" ; + dcterms:description "AADCๆฌ ๆ็—‡ใฏ๏ผฌ-ใƒ‰ใƒผใƒ‘ใ‚’ใƒ‰ใƒ‘ใƒŸใƒณใซใ€5-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ทใƒˆใƒชใƒ—ใƒˆใƒ•ใ‚กใƒณ๏ผˆ5-HTP๏ผ‰ใ‚’ใ‚ปใƒญใƒˆใƒ‹ใƒณ๏ผˆ5HT๏ผ‰ใซ่„ฑ็‚ญ้…ธๅŒ–ใ™ใ‚‹้…ต็ด ้บไผๅญ๏ผˆDDC๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ใƒ‰ใƒ‘ใƒŸใƒณใ€ใƒŽใƒซใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚จใƒ”ใƒใƒ•ใƒชใƒณใ€ใ‚ปใƒญใƒˆใƒ‹ใƒณใฎๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€1990ๅนดใ‚คใ‚ฎใƒชใ‚นใฎHylandใ‚‰ใซใ‚ˆใฃใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ1๏ผ‰ใ€‚ๅ…ธๅž‹ไพ‹ใฏใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็™บ้”้…ๆปžใŠใ‚ˆใณ้–“ๆญ‡็š„ใช็œผ็ƒๅ›ž่ปข็™บไฝœใชใฉ็œผ็ƒ้‹ๅ‹•็•ฐๅธธใจๅ››่‚ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใง็™บ็—‡ใ—ใ€้ซ„ๆถฒไธญใฎHVAใŠใ‚ˆใณ๏ผ•HIAAใฎไฝŽๅ€คใชใฉ็‰นๅพด็š„ใชๆ‰€่ฆ‹ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ใƒ‰ใƒ‘ใƒŸใƒณใ‚ขใ‚ดใƒ‹ใ‚นใƒˆใชใฉใ‚’็”จใ„ใŸๅ†…ๆœๆฒป็™‚ใŒ่ฉฆใฟใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒไบˆๅพŒใฏไธ่‰ฏใงๅคšใใฏๅฏใŸใใ‚Šใง็™บ่ชžใฎใชใ„็Šถๆ…‹ใซใจใฉใพใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200596" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aromatic L-amino acid decarboxylase deficiency"@en, "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012084 ; + rdfs:label "Aromatic L-amino acid decarboxylase deficiency"@en, "ใปใ†ใ“ใ†ใžใใˆใ‚‹ใ‚ใฟใฎใ•ใ‚“ใ ใคใŸใ‚“ใ•ใ‚“ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012084 ; skos:prefLabel "่Šณ้ฆ™ๆ—L-ใ‚ขใƒŸใƒŽ้…ธ่„ฑ็‚ญ้…ธ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200597 - :hasNotificationNumber "53" ; - terms:description "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒๆฐด้…ธๅŒ–้…ต็ด ๏ผˆDBH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ‚’ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ไบคๆ„Ÿ็ฅž็ตŒNAไฝœๅ‹•ๆ€งๆฉŸ่ƒฝใฎๆฌ ๅฆ‚ใซใ‚ˆใ‚Š่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹้žๅธธใซใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซๅฟƒ่ก€็ฎก็–พๆ‚ฃใ€้‡ๅบฆใฎ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎ็•ฐๅธธใฏๅ‘จ็”ฃๆœŸใ‹ใ‚‰ๅง‹ใพใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใงใฏNAใ€ใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใฎไธก่€…ใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ไฝŽไฝ“ๆธฉใ€ไฝŽ่ก€ๅœงใ€ไฝŽ่ก€็ณ–ใชใฉ่ค‡้›‘ใช่‡ช็ซ‹็ฅž็ตŒ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200597" ; - terms:source ; + + nando:hasNotificationNumber "53" ; + dcterms:description "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒๆฐด้…ธๅŒ–้…ต็ด ๏ผˆDBH๏ผ‰ๆฌ ๆ็—‡ใฏใ€ใƒ‰ใƒผใƒ‘ใƒŸใƒณใ‚’ใƒŽใƒซใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใซๆฐด้…ธๅŒ–ใ™ใ‚‹้…ต็ด ใฎๆฌ ๆ็—‡ใงใ€ไบคๆ„Ÿ็ฅž็ตŒNAไฝœๅ‹•ๆ€งๆฉŸ่ƒฝใฎๆฌ ๅฆ‚ใซใ‚ˆใ‚Š่‡ชๅพ‹็ฅž็ตŒ้šœๅฎณใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๆ€งๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹้žๅธธใซใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใŠใ‚‚ใซๅฟƒ่ก€็ฎก็–พๆ‚ฃใ€้‡ๅบฆใฎ่ตท็ซ‹ๆ€งไฝŽ่ก€ๅœงใซใ‚ˆใฃใฆ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใŒใ€ใใฎ็•ฐๅธธใฏๅ‘จ็”ฃๆœŸใ‹ใ‚‰ๅง‹ใพใ‚Šใ€ๆ–ฐ็”Ÿๅ…ใงใฏNAใ€ใ‚ขใƒ‰ใƒฌใƒŠใƒชใƒณใฎไธก่€…ใฎไฝŽไธ‹ใซใ‚ˆใ‚‹ไฝŽไฝ“ๆธฉใ€ไฝŽ่ก€ๅœงใ€ไฝŽ่ก€็ณ–ใชใฉ่ค‡้›‘ใช่‡ช็ซ‹็ฅž็ตŒ็—‡็ŠถใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200597" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dopamine beta hydroxylase deficiency"@en, "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Dopamine beta hydroxylase deficiency"@en, "ใฉใƒผใฑใฟใ‚“ในใƒผใŸใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009123 ; + rdfs:subClassOf ; + skos:altLabel "dopamine-ฮฒ-hydroxylase deficiency"@en ; + skos:closeMatch obo:MONDO_0009123 ; skos:prefLabel "ใƒ‰ใƒผใƒ‘ใƒŸใƒณฮฒ-ๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200598 - :hasNotificationNumber "50" ; - terms:description "่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎไปฃ่ฌใซใ‹ใ‹ใ‚ใ‚‹GABAใƒˆใƒฉใƒณใ‚นใ‚ขใƒŸใƒŠใƒผใ‚ผ๏ผˆGABAT๏ผ‰ใฎๆฌ ๆ็—‡ใฏใ€้‡็—‡ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใจ็™บ้”้…ๅปถใ‚’่ชใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใใ‚ใ‚ใฆใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ใ‚ใŒๅ›ฝใฎ๏ผ‘ไพ‹ใ‚’ๅซใ‚€ไธ–็•Œใง๏ผ“ๅฎถ็ณป4ไพ‹ใ—ใ‹ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "2200598" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎไปฃ่ฌใซใ‹ใ‹ใ‚ใ‚‹GABAใƒˆใƒฉใƒณใ‚นใ‚ขใƒŸใƒŠใƒผใ‚ผ๏ผˆGABAT๏ผ‰ใฎๆฌ ๆ็—‡ใฏใ€้‡็—‡ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใจ็™บ้”้…ๅปถใ‚’่ชใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใใ‚ใ‚ใฆใพใ‚Œใชๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใงใ€ใ‚ใŒๅ›ฝใฎ๏ผ‘ไพ‹ใ‚’ๅซใ‚€ไธ–็•Œใง๏ผ“ๅฎถ็ณป4ไพ‹ใ—ใ‹ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200598" ; + dcterms:source ; a owl:Class ; - rdfs:label "GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡"@ja, "Gamma-amino butyrate aminotransferase deficiency"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡"@ja, "Gamma-amino butyrate aminotransferase deficiency"@en, "ใŽใ‚ƒใฐใ‚ใฟใฎใใฆใ‚“ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013166 ; skos:prefLabel "GABAใ‚ขใƒŸใƒŽๅŸบ่ปข็งป้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200599 - :hasNotificationNumber "51" ; - terms:description "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๏ผˆSSADH๏ผ‰ๆฌ ๆ็—‡ใฏ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ไผดใ†ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚SSADHใฎๆฌ ๆใงGABAใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰๏ผˆSSA๏ผ‰ใŒใ‚ณใƒใ‚ฏ้…ธใซๅค‰ๆ›ใ•ใ‚Œใชใ„ใŸใ‚ใ€SSAใฎๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚‹ใŒใ€SSAใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท้…ช้…ธ๏ผˆGHB๏ผ‰ใซไปฃ่ฌใ•ใ‚ŒๅฐฟไธญใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใŸใ‚GHBๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚GHBๅฐฟ็—‡ใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ž็‰น็•ฐ็š„ใช็ฅž็ตŒ็—‡็ŠถใŒๅคšใ„ใŸใ‚ใ€ๅฎŸ้š›ใซใฏๆญฃ็ขบใช่จบๆ–ญใ‚’ๅ—ใ‘ใฆใ„ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200599" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๏ผˆSSADH๏ผ‰ๆฌ ๆ็—‡ใฏ่„ณๅ†…ใฎ้‡่ฆใช็ฅž็ตŒไผ้”็‰ฉ่ณชใงใ‚ใ‚‹ฮณ-ใ‚ขใƒŸใƒŽ้…ช้…ธ๏ผˆGABA๏ผ‰ใฎๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใฎใฒใจใคใงใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ‚’ไผดใ†ใพใ‚Œใช้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚SSADHใฎๆฌ ๆใงGABAใฎไปฃ่ฌ็”ฃ็‰ฉใงใ‚ใ‚‹ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰๏ผˆSSA๏ผ‰ใŒใ‚ณใƒใ‚ฏ้…ธใซๅค‰ๆ›ใ•ใ‚Œใชใ„ใŸใ‚ใ€SSAใฎๆฟƒๅบฆใŒไธŠๆ˜‡ใ™ใ‚‹ใŒใ€SSAใฏ4-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท้…ช้…ธ๏ผˆGHB๏ผ‰ใซไปฃ่ฌใ•ใ‚ŒๅฐฟไธญใซๆŽ’ๆณ„ใ•ใ‚Œใ‚‹ใŸใ‚GHBๅฐฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใ“ใฎใŸใ‚GHBๅฐฟ็—‡ใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ž็‰น็•ฐ็š„ใช็ฅž็ตŒ็—‡็ŠถใŒๅคšใ„ใŸใ‚ใ€ๅฎŸ้š›ใซใฏๆญฃ็ขบใช่จบๆ–ญใ‚’ๅ—ใ‘ใฆใ„ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200599" ; + dcterms:source ; a owl:Class ; - rdfs:label "Succinic semialdehyde dehydrogenase deficiency"@en, "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Succinic semialdehyde dehydrogenase deficiency"@en, "ใ“ใฏใใ•ใ‚“ใ›ใฟใ‚ใ‚‹ใงใฒใฉใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010083 ; + rdfs:subClassOf ; + skos:altLabel "SSADH deficiency"@en, "SSADHD"@en, "SSADHๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010083 ; skos:prefLabel "ใ‚ณใƒใ‚ฏ้…ธใ‚ปใƒŸใ‚ขใƒซใƒ‡ใƒ’ใƒ‰่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200600 - :hasNotificationNumber "56" ; - terms:description "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ใฏใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็”Ÿๅˆๆˆใƒปไปฃ่ฌใƒป็•ฐๅŒ–ใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใ‹ใ‚‰ไนณๅนผๅ…ๆœŸใฎใ€็ฅž็ตŒ็ดฐ่ƒžใŒๅˆ†ๅŒ–ใ—ใฆใƒใƒƒใƒˆใƒฏใƒผใ‚ฏใ‚’ๅฝขๆˆใ—ใฆใ„ใๆ™‚ๆœŸใซ็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ€็ฅž็ตŒ็™บ้”ใซ้‡ๅคงใช็•ฐๅธธใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹122ใ€œ127ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎไปฃ่ฌใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ฅž็ตŒ็™บ้”ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200600" ; - terms:source ; + + nando:hasNotificationNumber "56" ; + dcterms:description "็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡ใฏใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็”Ÿๅˆๆˆใƒปไปฃ่ฌใƒป็•ฐๅŒ–ใซ้–ขใ‚ใ‚‹้…ต็ด ใฎๅ…ˆๅคฉ็š„ใชๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚่ƒŽๅ…ๆœŸใ‹ใ‚‰ไนณๅนผๅ…ๆœŸใฎใ€็ฅž็ตŒ็ดฐ่ƒžใŒๅˆ†ๅŒ–ใ—ใฆใƒใƒƒใƒˆใƒฏใƒผใ‚ฏใ‚’ๅฝขๆˆใ—ใฆใ„ใๆ™‚ๆœŸใซ็ฅž็ตŒไผ้”็‰ฉ่ณชใฎ็•ฐๅธธใŒใ‚ใ‚‹ใจใ€็ฅž็ตŒ็™บ้”ใซ้‡ๅคงใช็•ฐๅธธใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹122ใ€œ127ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€็ฅž็ตŒไผ้”็‰ฉ่ณชใฎไปฃ่ฌใซ้–ขใ‚ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ฅž็ตŒ็™บ้”ใซ็•ฐๅธธใ‚’ใใŸใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200600" ; + dcterms:source ; a owl:Class ; - rdfs:label "122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡"@ja, "Other disorder of neurotransmitter metabolism and transport"@en ; + rdfs:label "122ใ‹ใ‚‰127ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ‚“ใ‘ใ„ใงใ‚“ใŸใคใถใฃใ—ใคใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡"@ja, "Other disorder of neurotransmitter metabolism and transport"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "122ใ‹ใ‚‰127ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ฅž็ตŒไผ้”็‰ฉ่ณช็•ฐๅธธ็—‡"@ja . -:2200601 - :hasNotificationNumber "36" ; - terms:description "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎ็•ฐๅŒ–้šœๅฎณใซใ‚ˆใ‚Š้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰๏ผˆTG๏ผ‰่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็šฎ่†š็™บ็–นๆ€ง้ป„่‰ฒ่…ซใ‚„ๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผฃIIๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€งVๅž‹้ซ˜่„‚่ก€็—‡ใ€ใใฎไป–ใฎ้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŒ๏ผ’๏ผ‰"@ja ; - terms:identifier "2200601" ; - terms:source ; + + nando:hasNotificationNumber "36" ; + dcterms:description "ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณใฎ็•ฐๅŒ–้šœๅฎณใซใ‚ˆใ‚Š้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใ€้ซ˜ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰๏ผˆTG๏ผ‰่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€็šฎ่†š็™บ็–นๆ€ง้ป„่‰ฒ่…ซใ‚„ๆ€ฅๆ€ง่†ต็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏใƒชใƒ‘ใƒผใ‚ผ๏ผˆLPL๏ผ‰ๆฌ ๆ็—‡ใ€ใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผฃIIๆฌ ๆ็—‡ใ€ๅŽŸ็™บๆ€งVๅž‹้ซ˜่„‚่ก€็—‡ใ€ใใฎไป–ใฎ้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŒ๏ผ’๏ผ‰"@ja ; + dcterms:identifier "NANDO:2200601" ; + dcterms:source ; a owl:Class ; - rdfs:label "Primary hyperchylomicronaemia"@en, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Primary hyperchylomicronemia"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ“ใ†ใ‹ใ„ใ‚ใฟใใ‚ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Primary hyperchylomicronaemia"@en ; skos:prefLabel "ๅŽŸ็™บๆ€ง้ซ˜ใ‚ซใ‚คใƒญใƒŸใ‚ฏใƒญใƒณ่ก€็—‡"@ja . -:2200602 - :hasNotificationNumber "34" ; - terms:description "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆFH๏ผ‰ใฏใ€ไฝŽๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆLDL๏ผ‰ๅ—ๅฎนไฝ“ใพใŸใฏ้–ข้€ฃใ™ใ‚‹้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚FHใงใฏLDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่ก€ไธญใƒฌใƒ™ใƒซใŒใใ‚ใ‚ใฆ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ๅ‹•่„ˆ็กฌๅŒ–ใฎ้žๅธธใซ้ซ˜ใ„ใƒชใ‚นใ‚ฏใจใชใ‚‹ใ€‚่‹ฅๅนดใง็‹ญๅฟƒ็—‡ใ‚„ๅฟƒ็ญ‹ๆข—ๅกžใ‚’็™บ็—‡ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200602" ; - terms:source ; - a owl:Class ; - rdfs:label "Familial hypercholesterolaemia"@en, "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "34" ; + dcterms:description "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡๏ผˆFH๏ผ‰ใฏใ€ไฝŽๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆLDL๏ผ‰ๅ—ๅฎนไฝ“ใพใŸใฏ้–ข้€ฃใ™ใ‚‹้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚FHใงใฏLDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎ่ก€ไธญใƒฌใƒ™ใƒซใŒใใ‚ใ‚ใฆ้ซ˜ๅ€คใจใชใ‚‹ใŸใ‚ๅ‹•่„ˆ็กฌๅŒ–ใฎ้žๅธธใซ้ซ˜ใ„ใƒชใ‚นใ‚ฏใจใชใ‚‹ใ€‚่‹ฅๅนดใง็‹ญๅฟƒ็—‡ใ‚„ๅฟƒ็ญ‹ๆข—ๅกžใ‚’็™บ็—‡ใ™ใ‚‹ๅฏ่ƒฝๆ€งใŒ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200602" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial hypercholesterolemia"@en, "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FH"@en, "Familial hypercholesterolaemia"@en ; + skos:closeMatch obo:MONDO_0005439, obo:MONDO_0007750, obo:MONDO_0016525 ; skos:prefLabel "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡"@ja . -:2200603 - :hasNotificationNumber "35" ; - terms:description "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡๏ผˆFCHL๏ผ‰ใฏใ€่ก€ไธญ็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆTC๏ผ‰ใจTGใฎไธกๆ–นใŒ้ซ˜ๅ€คใจใชใ‚‹็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใจใ•ใ‚Œใฆใ„ใ‚‹ใŒ่ค‡ๆ•ฐใฎ้บไผๅญ็•ฐๅธธใŒใ‹ใ‹ใ‚ใฃใฆใ„ใ‚‹ใ€‚่‹ฅๅนดใงใฎๅฟƒ็ญ‹ๆข—ๅกžใฎ็™บ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€65ๆญณไปฅไธ‹ใฎๅฟƒ็ญ‹ๆข—ๅกžๆ‚ฃ่€…ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆ30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹๏ผ‘๏ผŒ๏ผ’๏ผ‰ใ€‚"@ja ; - terms:identifier "2200603" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡๏ผˆFCHL๏ผ‰ใฏใ€่ก€ไธญ็ทใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆTC๏ผ‰ใจTGใฎไธกๆ–นใŒ้ซ˜ๅ€คใจใชใ‚‹็–พๆ‚ฃใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใจใ•ใ‚Œใฆใ„ใ‚‹ใŒ่ค‡ๆ•ฐใฎ้บไผๅญ็•ฐๅธธใŒใ‹ใ‹ใ‚ใฃใฆใ„ใ‚‹ใ€‚่‹ฅๅนดใงใฎๅฟƒ็ญ‹ๆข—ๅกžใฎ็™บ็—‡ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€65ๆญณไปฅไธ‹ใฎๅฟƒ็ญ‹ๆข—ๅกžๆ‚ฃ่€…ใฎๅŸบ็คŽ็–พๆ‚ฃใจใ—ใฆ30๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹๏ผ‘๏ผŒ๏ผ’๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200603" ; + dcterms:source ; a owl:Class ; - rdfs:label "Familial combined hyperlipidaemia"@en, "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡"@ja ; + rdfs:label "Familial combined hyperlipidemia"@en, "ใ‹ใžใใ›ใ„ใตใใ”ใ†ใŒใŸใ“ใ†ใ—ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "FCHL"@en, "Familial combined hyperlipidaemia"@en ; + skos:closeMatch obo:MONDO_0001336 ; skos:prefLabel "ๅฎถๆ—ๆ€ง่ค‡ๅˆๅž‹้ซ˜่„‚่ก€็—‡"@ja . -:2200604 - :hasNotificationNumber "38" ; - terms:description "ใƒชใƒ่›‹็™ฝ็ฒ’ๅญๅฝขๆˆใซ้–ขไธŽใ™ใ‚‹ใƒŸใ‚ฏใƒญใ‚ฝใƒผใƒ ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ปข้€่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่…ธใงๅธๅŽใ•ใ‚ŒใŸ้ฃŸไบ‹ๆ€ง่„‚่‚ชใฏใƒชใƒ่›‹็™ฝใจใ—ใฆ่ปข้€ใ•ใ‚Œใšใซ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใ€่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚‹ไธ‹็—ขใ€่„‚่‚ชไพฟใจใชใ‚Š่…น็—›ใ€ๆˆ้•ท้šœๅฎณใชใฉใ‚’ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹็ฅž็ตŒ็—‡็Šถใ€็™บ้”้…ๆปžใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸ่„‚่‚ชใ‚‚ๅ…จ่บซใซ่ปข้€ใ•ใ‚Œใ‚‹ใ“ใจใชใ่„‚่‚ช่‚ใจใชใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚"@ja ; - terms:identifier "2200604" ; - terms:source ; - a owl:Class ; - rdfs:label "Abetalipoproteinemia"@en, "็„กฮฒ-ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008692 ; - skos:prefLabel "็„กฮฒ-ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡"@ja . - -:2200605 - :hasNotificationNumber "37" ; - terms:description "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆHDL๏ผ‰ใŒๆฌ ๆใพใŸใฏไฝŽไธ‹ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ใ“ใ“ใงใฏใ€ๅŽŸ็™บๆ€ง๏ผˆ้บไผๆ€ง๏ผ‰ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆHDL-C๏ผ‰ใฎไฝŽไธ‹ใซใฏใ€HDLใฎ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ๅ ดๅˆใ€ๆˆ็†ŸใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ ดๅˆใ€็•ฐๅŒ–ใŒๆ›ดๆ–ฐใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚็พๅœจใ€ไปฅไธ‹ใฎ็–พๆ‚ฃใŒไธป่ฆใชใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚้ ปๅบฆใฏๅธŒใงใ‚ใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚๏ผ‘๏ผŽlecithin-cholesterol acyltransferase๏ผˆLCAT๏ผ‰ๆฌ ๆ็—‡๏ผ“๏ผ‰ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใชLCATใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ๅฎถๆ—ๆ€งLCATๆฌ ๆ็—‡ใจ้ญš็œผ็—…ใฎ็•ฐใชใ‚‹่กจ็พๅž‹ใ‚’ๅ‘ˆใ™ใ‚‹๏ผˆLCATๆดปๆ€งใฎๅทฎใซใ‚ˆใ‚‹๏ผ‰ใ€‚ๅนผๅฐ‘ๅ…ใ‚ˆใ‚Šๅ‡บ็พใ™ใ‚‹่ง’่†œๆททๆฟใจไฝŽHDL-C่ก€็—‡ใฏๅ…ฑ้€šใ™ใ‚‹ใ€‚ๅพŒ่€…ใฏใ“ใ‚Œใฎใฟใงใ‚ใ‚‹ใŒใ€ๅ‰่€…ใฏ่ตค่ก€็ƒใฎๅฝขๆ…‹็•ฐๅธธ๏ผˆๆบถ่ก€ๆ€ง่ฒง่ก€๏ผ‰ใƒป่›‹็™ฝๅฐฟ๏ผˆ่…Ž้šœๅฎณ๏ผ‰ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚HDL-Cใฏๆญฃๅธธใฎ1/10็จ‹ๅบฆใจใ•ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็ขบๅฎš่จบๆ–ญใซใฏใ€LCATๆดปๆ€ง๏ผˆ่›‹็™ฝ๏ผ‰ใฎๆธฌๅฎšใ‚„้บไผๅญๅค‰็•ฐใ‚’ๅŒๅฎšใ™ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚๏ผ’๏ผŽใ‚ฟใƒณใ‚ธใƒผใƒซ๏ผˆTangier๏ผ‰็—…๏ผ”๏ผ‰ใ‚ขใƒA-โ… ใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซ้‡่ฆใชATP-binding cassette transporter 1 (ABCA1)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใฎ้Žๅ‰ฐ่“„็ฉใซใ‚ˆใ‚‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ€่ง’่†œๆททๆฟใ€่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€็Ÿฅ่ฆš้šœๅฎณใ‚’็คบใ™ใ€‚HDL-Cใ€ใ‚ขใƒA-โ… ใฎไฝŽไธ‹ใ€ใƒ—ใƒญใ‚ขใƒA-โ… ใฎๅข—ๅŠ ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฏๆญฃๅธธใ€‚้บไผๅญ่งฃๆžใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚๏ผ“๏ผŽใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-โ… ๆฌ ๆ็—‡ใƒป็•ฐๅธธ็—‡๏ผ•๏ผ‰ใ‚ขใƒ A-โ… ใฏHDLใฎๆง‹ๆˆใ‚ขใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-โ… ใจใจใ‚‚ใซC-โ…ขใ€A-โ…คใ‚’ๆฌ ๆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅฎŒๅ…จใชๆฌ ๆ็—‡ใจๅค‰็•ฐไฝ“ใจใ—ใฆๆคœๅ‡บใ•ใ‚Œใ‚‹็•ฐๅธธ็—‡ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บๆ€งใŒใ‚ใ‚‹ใ€‚HDL-Cใ€ใ‚ขใƒAใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ‚„ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚„่…Ž้šœๅฎณใฏใชใ„ใ€‚ๅ‹•่„ˆ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฎไบˆ้˜ฒใจใƒใ‚งใƒƒใ‚ฏใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ใ‚ขใƒA-1ใฎๅค‰็•ฐใฎไธ€้ƒจใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200605" ; - terms:source ; - a owl:Class ; - rdfs:label "HDL deficiency"@en, "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡"@ja ; + + nando:hasNotificationNumber "38" ; + dcterms:description "ใƒชใƒ่›‹็™ฝ็ฒ’ๅญๅฝขๆˆใซ้–ขไธŽใ™ใ‚‹ใƒŸใ‚ฏใƒญใ‚ฝใƒผใƒ ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒชใƒ‰่ปข้€่›‹็™ฝใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅฐ่…ธใงๅธๅŽใ•ใ‚ŒใŸ้ฃŸไบ‹ๆ€ง่„‚่‚ชใฏใƒชใƒ่›‹็™ฝใจใ—ใฆ่ปข้€ใ•ใ‚Œใšใซ็ดฐ่ƒžๅ†…ใซ่“„็ฉใ™ใ‚‹ใŸใ‚ใ€่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚‹ไธ‹็—ขใ€่„‚่‚ชไพฟใจใชใ‚Š่…น็—›ใ€ๆˆ้•ท้šœๅฎณใชใฉใ‚’ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹็ฅž็ตŒ็—‡็Šถใ€็™บ้”้…ๆปžใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ใพใŸใ€่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸ่„‚่‚ชใ‚‚ๅ…จ่บซใซ่ปข้€ใ•ใ‚Œใ‚‹ใ“ใจใชใ่„‚่‚ช่‚ใจใชใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200604" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Abetalipoproteinemia"@en, "ใ‚€ในใƒผใŸใ‚ŠใฝใŸใ‚“ใฑใใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Abetalipoproteinaemia"@en ; + skos:closeMatch obo:MONDO_0008692 ; + skos:prefLabel "็„กฮฒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "37" ; + dcterms:description "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏ๏ผˆHDL๏ผ‰ใŒๆฌ ๆใพใŸใฏไฝŽไธ‹ใ—ใฆใ„ใ‚‹็–พๆ‚ฃใ€‚ใ“ใ“ใงใฏใ€ๅŽŸ็™บๆ€ง๏ผˆ้บไผๆ€ง๏ผ‰ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚HDLใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ๏ผˆHDL-C๏ผ‰ใฎไฝŽไธ‹ใซใฏใ€HDLใฎ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ๅ ดๅˆใ€ๆˆ็†ŸใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ ดๅˆใ€็•ฐๅŒ–ใŒๆ›ดๆ–ฐใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚็พๅœจใ€ไปฅไธ‹ใฎ็–พๆ‚ฃใŒไธป่ฆใชใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚้ ปๅบฆใฏๅธŒใงใ‚ใ‚‹๏ผ‘ใ€๏ผ’๏ผ‰ใ€‚๏ผ‘๏ผŽlecithin-cholesterol acyltransferase๏ผˆLCAT๏ผ‰ๆฌ ๆ็—‡๏ผ“๏ผ‰ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใฎใ‚จใ‚นใƒ†ใƒซๅŒ–ใซ้‡่ฆใชLCATใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ๅฎถๆ—ๆ€งLCATๆฌ ๆ็—‡ใจ้ญš็œผ็—…ใฎ็•ฐใชใ‚‹่กจ็พๅž‹ใ‚’ๅ‘ˆใ™ใ‚‹๏ผˆLCATๆดปๆ€งใฎๅทฎใซใ‚ˆใ‚‹๏ผ‰ใ€‚ๅนผๅฐ‘ๅ…ใ‚ˆใ‚Šๅ‡บ็พใ™ใ‚‹่ง’่†œๆททๆฟใจไฝŽHDL-C่ก€็—‡ใฏๅ…ฑ้€šใ™ใ‚‹ใ€‚ๅพŒ่€…ใฏใ“ใ‚Œใฎใฟใงใ‚ใ‚‹ใŒใ€ๅ‰่€…ใฏ่ตค่ก€็ƒใฎๅฝขๆ…‹็•ฐๅธธ๏ผˆๆบถ่ก€ๆ€ง่ฒง่ก€๏ผ‰ใƒป่›‹็™ฝๅฐฟ๏ผˆ่…Ž้šœๅฎณ๏ผ‰ใ‚‚่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚HDL-Cใฏๆญฃๅธธใฎ1/10็จ‹ๅบฆใจใ•ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚็ขบๅฎš่จบๆ–ญใซใฏใ€LCATๆดปๆ€ง๏ผˆ่›‹็™ฝ๏ผ‰ใฎๆธฌๅฎšใ‚„้บไผๅญๅค‰็•ฐใ‚’ๅŒๅฎšใ™ใ‚‹ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚๏ผ’๏ผŽใ‚ฟใƒณใ‚ธใƒผใƒซ๏ผˆTangier๏ผ‰็—…๏ผ”๏ผ‰ใ‚ขใƒA-โ… ใซใ‚ˆใ‚‹็ดฐ่ƒžใ‹ใ‚‰ใฎใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅผ•ใๆŠœใใซ้‡่ฆใชATP-binding cassette transporter 1 (ABCA1)ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซใฎ้Žๅ‰ฐ่“„็ฉใซใ‚ˆใ‚‹ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ€่ง’่†œๆททๆฟใ€่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ€็Ÿฅ่ฆš้šœๅฎณใ‚’็คบใ™ใ€‚HDL-Cใ€ใ‚ขใƒA-โ… ใฎไฝŽไธ‹ใ€ใƒ—ใƒญใ‚ขใƒA-โ… ใฎๅข—ๅŠ ใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฏๆญฃๅธธใ€‚้บไผๅญ่งฃๆžใง็ขบๅฎš่จบๆ–ญใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚๏ผ“๏ผŽใ‚ขใƒใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏA-โ… ๆฌ ๆ็—‡ใƒป็•ฐๅธธ็—‡๏ผ•๏ผ‰ใ‚ขใƒ A-โ… ใฏHDLใฎๆง‹ๆˆใ‚ขใƒใ‚ฟใƒณใƒ‘ใ‚ฏใงใ‚ใ‚‹ใ€‚ใ‚ขใƒA-โ… ใจใจใ‚‚ใซC-โ…ขใ€A-โ…คใ‚’ๆฌ ๆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ฟใƒณใƒ‘ใ‚ฏใฎๅฎŒๅ…จใชๆฌ ๆ็—‡ใจๅค‰็•ฐไฝ“ใจใ—ใฆๆคœๅ‡บใ•ใ‚Œใ‚‹็•ฐๅธธ็—‡ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ‚’ๅˆไฝตใ™ใ‚‹ๅฑ้™บๆ€งใŒใ‚ใ‚‹ใ€‚HDL-Cใ€ใ‚ขใƒAใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใ‚ชใƒฌใƒณใ‚ธ่‰ฒใฎๆ‰ๆกƒ่‚ฅๅคงใ‚„ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซๆฏ”ใฎไฝŽไธ‹ใ‚„่…Ž้šœๅฎณใฏใชใ„ใ€‚ๅ‹•่„ˆ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฎไบˆ้˜ฒใจใƒใ‚งใƒƒใ‚ฏใŒๅฟ…่ฆใจใชใ‚‹ใ€‚ใ‚ขใƒA-1ใฎๅค‰็•ฐใฎไธ€้ƒจใซใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200605" ; + dcterms:source ; + a owl:Class ; + rdfs:label "HDL deficiency"@en, "ใ“ใ†ใฒใ˜ใ‚…ใ†ใ‚ŠใฝใŸใ‚“ใฑใใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "HDLๆฌ ไน็—‡"@ja ; + rdfs:subClassOf ; + skos:altLabel "HDLๆฌ ไน็—‡"@ja, "high density lipoprotein deficiency"@en ; + skos:closeMatch obo:MONDO_0017773, obo:MONDO_0100189 ; skos:prefLabel "้ซ˜ๆฏ”้‡ใƒชใƒใ‚ฟใƒณใƒ‘ใ‚ฏๆฌ ไน็—‡"@ja . -:2200606 - :hasNotificationNumber "39" ; - terms:description "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่ก€ไธญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰ใฎ็•ฐๅธธ้ซ˜ๅ€คใ€ใ‚ใ‚‹ใ„ใฏ็•ฐๅธธไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณชใฎ้Žๅ‰ฐ่“„็ฉใ‚„ไฝŽไธ‹ใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹129ใ€œ133ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€่ก€ๆธ…่„‚่ณชใ‚„ใƒชใƒ่›‹็™ฝใฎไปฃ่ฌ็ณปใซ้–ข้€ฃใ™ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆๅŽŸ็™บๆ€งใฎ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200606" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใฏใ€่ก€ไธญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚„ใƒˆใƒชใ‚ฐใƒชใ‚ปใƒฉใ‚คใƒ‰ใฎ็•ฐๅธธ้ซ˜ๅ€คใ€ใ‚ใ‚‹ใ„ใฏ็•ฐๅธธไฝŽๅ€คใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„‚่ณชใฎ้Žๅ‰ฐ่“„็ฉใ‚„ไฝŽไธ‹ใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹129ใ€œ133ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€่ก€ๆธ…่„‚่ณชใ‚„ใƒชใƒ่›‹็™ฝใฎไปฃ่ฌ็ณปใซ้–ข้€ฃใ™ใ‚‹้…ต็ด ใฎ้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆๅŽŸ็™บๆ€งใฎ่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200606" ; + dcterms:source ; a owl:Class ; - rdfs:label "129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorder of lipid metabolism"@en ; + rdfs:label "129ใ‹ใ‚‰133ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใ—ใคใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja, "Other disorder of lipid metabolism"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "129ใ‹ใ‚‰133ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่„‚่ณชไปฃ่ฌ็•ฐๅธธ็—‡"@ja . -:2200607 - :hasNotificationNumber "31" ; - terms:description "ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็”ฃ็”Ÿใ‚ใ‚‹ใ„ใฏๆˆ็†ŸใซใŠใ‘ใ‚‹ๅ…ˆๅคฉ็š„้šœๅฎณใซใ‚ˆใ‚Š็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใ‚’็”Ÿใ˜ใ‚‹ไธ€้€ฃใฎ้บไผๆ€ง็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚6็จฎใฎ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅคๅ…ธๅž‹๏ผš Vๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL5A1 COL5Aใ€€้–ข็ฏ€ใฎ้Žไผธๅฑ•ใ€ๅ‰ตๅ‚ทๆฒป็™’้…ๅปถใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้–ข็ฏ€ๅž‹๏ผšๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใŒใ€ๅŽŸๅ› ้บไผๅญใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆŸ”ใ‚‰ใ‹ใ„็šฎ่†šใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’่ชใ‚ใ‚‹ใ€‚่ก€็ฎกๅž‹๏ผš โ…ขๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL3A1ใ€€่–„ใ„้€้Žๆ€งใฎ็šฎ่†šใ€ๅ‹•่„ˆใƒป่…ธ็ฎกใƒปๅญๅฎฎ็ ด่ฃ‚ใ€ๆ˜“ๅ‡บ่ก€ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ๅพŒๅดๅฝŽๅž‹๏ผš ใƒชใ‚ธใƒณใƒใ‚คใƒ‰ใƒญใ‚ชใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ๆฌ ๆใŒๅŽŸๅ› ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ…จ่บซๆ€งๅผ›็ทฉๆ€ง้–ข็ฏ€ใ€ๅ…ˆๅคฉๆ€ง้€ฒ่กŒๆ€ง่„ŠๆคŽๅพŒๅดๅฝŽใ€็œผ็ƒ็ ด่ฃ‚ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹๏ผšIๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผๅˆ‡ๆ–ญ้ƒจไฝใฎ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL1A1 COL1A2 ๅๅพฉๆ€งไบœ่„ฑ่‡ผใ‚’ไผดใ„ๅ…จ่บซๆ€งใฎ้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ€ไธกๅดๅ…ˆๅคฉๆ€ง่‚ก้–ข็ฏ€่„ฑ่‡ผใ‚’่ชใ‚ใ‚‹ใ€‚็šฎ่†šๅผ›็ทฉๅž‹๏ผšใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผใฎๆฌ ๆใŒๅŽŸๅ› ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ๅŽŸๅ› ้บไผๅญใฏใ€ADAMTS2ใ€€็šฎ่†šใฎ่„†ๅผฑๆ€งใ€ใŸใ‚‹ใ‚“ใ ็šฎ่†šใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200607" ; - terms:source ; - a owl:Class ; - rdfs:label "Ehlers-Danlos syndrome"@en, "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Ehlers-Danlos็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0020066 ; + + nando:hasNotificationNumber "31" ; + dcterms:description "ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็”ฃ็”Ÿใ‚ใ‚‹ใ„ใฏๆˆ็†ŸใซใŠใ‘ใ‚‹ๅ…ˆๅคฉ็š„้šœๅฎณใซใ‚ˆใ‚Š็ตๅˆ็ต„็น”ใฎ่„†ๅผฑๆ€งใ‚’็”Ÿใ˜ใ‚‹ไธ€้€ฃใฎ้บไผๆ€ง็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚6็จฎใฎ็—…ๅž‹ๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚ๅคๅ…ธๅž‹๏ผš Vๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL5A1 COL5Aใ€€้–ข็ฏ€ใฎ้Žไผธๅฑ•ใ€ๅ‰ตๅ‚ทๆฒป็™’้…ๅปถใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้–ข็ฏ€ๅž‹๏ผšๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใŒใ€ๅŽŸๅ› ้บไผๅญใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆŸ”ใ‚‰ใ‹ใ„็šฎ่†šใ€้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ‚’่ชใ‚ใ‚‹ใ€‚่ก€็ฎกๅž‹๏ผš โ…ขๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL3A1ใ€€่–„ใ„้€้Žๆ€งใฎ็šฎ่†šใ€ๅ‹•่„ˆใƒป่…ธ็ฎกใƒปๅญๅฎฎ็ ด่ฃ‚ใ€ๆ˜“ๅ‡บ่ก€ๆ€งใ‚’่ชใ‚ใ‚‹ใ€‚ๅพŒๅดๅฝŽๅž‹๏ผš ใƒชใ‚ธใƒณใƒใ‚คใƒ‰ใƒญใ‚ชใ‚ญใ‚ทใƒฉใƒผใ‚ผใฎๅ…ˆๅคฉ็š„ๆฌ ๆใŒๅŽŸๅ› ใฎๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ…จ่บซๆ€งๅผ›็ทฉๆ€ง้–ข็ฏ€ใ€ๅ…ˆๅคฉๆ€ง้€ฒ่กŒๆ€ง่„ŠๆคŽๅพŒๅดๅฝŽใ€็œผ็ƒ็ ด่ฃ‚ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹๏ผšIๅž‹ใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณใฎN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผๅˆ‡ๆ–ญ้ƒจไฝใฎ็•ฐๅธธใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅŽŸๅ› ้บไผๅญใฏใ€COL1A1 COL1A2 ๅๅพฉๆ€งไบœ่„ฑ่‡ผใ‚’ไผดใ„ๅ…จ่บซๆ€งใฎ้–ข็ฏ€ๅฏๅ‹•ๆ€งไบข้€ฒใ€ไธกๅดๅ…ˆๅคฉๆ€ง่‚ก้–ข็ฏ€่„ฑ่‡ผใ‚’่ชใ‚ใ‚‹ใ€‚็šฎ่†šๅผ›็ทฉๅž‹๏ผšใƒ—ใƒญใ‚ณใƒฉใƒผใ‚ฒใƒณN-ใƒ—ใƒญใƒ†ใ‚คใƒŠใƒผใ‚ผใฎๆฌ ๆใŒๅŽŸๅ› ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚ๅŽŸๅ› ้บไผๅญใฏใ€ADAMTS2ใ€€็šฎ่†šใฎ่„†ๅผฑๆ€งใ€ใŸใ‚‹ใ‚“ใ ็šฎ่†šใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200607" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ehlers-Danlos syndrome"@en, "ใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "EDS"@en, "Ehlers-Danlos็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0020066 ; skos:prefLabel "ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . -:2200608 - :hasNotificationNumber "32" ; - terms:description "ใƒ’ใ‚ขใƒชใƒณๆง˜็‰ฉ่ณชใŒ็šฎ่†šใ‚„็ฒ˜่†œใซๆฒˆ็€ใ™ใ‚‹ใ€‚็‰นๅพด็š„ๆ‰€่ฆ‹ใจใ—ใฆใ€็œผ็žผ็ธใซๅฐไธ˜็–นใŒ็œŸ็ ใฎ้ฆ–ใ‹ใ–ใ‚Š็Šถใซไธ€ๅˆ—ใซไธฆใถใ€‚่‚˜ใชใฉใซ็–ฃ่ด…็Šถใฎ็ต็ฏ€ใ‚„ไธ˜็–นใ€ๅฃ่…”ๅ†…ใซ็™ฝ่‰ฒ็ต็ฏ€ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅฃฐ้–€ใซ็ต็ฏ€ใŒใงใใ‚‹ใจๅ—„ๅฃฐใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€extracellular matrix protein 1(ECM1)้บไผๅญใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200608" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "ใƒ’ใ‚ขใƒชใƒณๆง˜็‰ฉ่ณชใŒ็šฎ่†šใ‚„็ฒ˜่†œใซๆฒˆ็€ใ™ใ‚‹ใ€‚็‰นๅพด็š„ๆ‰€่ฆ‹ใจใ—ใฆใ€็œผ็žผ็ธใซๅฐไธ˜็–นใŒ็œŸ็ ใฎ้ฆ–ใ‹ใ–ใ‚Š็Šถใซไธ€ๅˆ—ใซไธฆใถใ€‚่‚˜ใชใฉใซ็–ฃ่ด…็Šถใฎ็ต็ฏ€ใ‚„ไธ˜็–นใ€ๅฃ่…”ๅ†…ใซ็™ฝ่‰ฒ็ต็ฏ€ใ‚’ๅฝขๆˆใ™ใ‚‹ใ€‚ๅฃฐ้–€ใซ็ต็ฏ€ใŒใงใใ‚‹ใจๅ—„ๅฃฐใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€extracellular matrix protein 1(ECM1)้บไผๅญใฎๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200608" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lipoid proteinosis"@en, "ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡"@ja ; + rdfs:label "Lipoid proteinosis"@en, "ใ‚Šใฝใ„ใฉใŸใ‚“ใฑใใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009530 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009530 ; skos:prefLabel "ใƒชใƒใ‚คใƒ‰ใ‚ฟใƒณใƒ‘ใ‚ฏ็—‡"@ja . -:2200609 - :hasNotificationNumber "33" ; - terms:description "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ใฏใ€ใ‚ณใƒฉใƒผใ‚ฒใƒณใ€้ชจๅŸบ่ณชใชใฉใฎไปฃ่ฌใซ้–ขไฟ‚ใ™ใ‚‹้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็šฎ่†šใ€้–ข็ฏ€ใ€้ชจใซๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹135ใ€œ138ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ตๅˆ็น”ใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200609" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "็ตๅˆ็ต„็น”็•ฐๅธธ็—‡ใฏใ€ใ‚ณใƒฉใƒผใ‚ฒใƒณใ€้ชจๅŸบ่ณชใชใฉใฎไปฃ่ฌใซ้–ขไฟ‚ใ™ใ‚‹้บไผ็š„ใช็•ฐๅธธใ‚’ใใฎๅŽŸๅ› ใจใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚็šฎ่†šใ€้–ข็ฏ€ใ€้ชจใซๆง˜ใ€…ใช้šœๅฎณใ‚’ใใŸใ™ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใจใ—ใฆใ€ๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใซๅฑžใ™ใ‚‹็–พๆ‚ฃใฎไธ€่ฆงใซใ‚ใ‚‹135ใ€œ138ใฎ็–พๆ‚ฃใŒๆŒ™ใ’ใ‚‰ใ‚Œใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ใใ‚Œใ‚‰ไปฅๅค–ใซใ‚‚้žๅธธใซ็จ€ใงใฏใ‚ใ‚‹ใŒใ€้บไผ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆ็ตๅˆ็น”ใฎ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200609" ; + dcterms:source ; a owl:Class ; - rdfs:label "135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡"@ja, "Other connective tissue disorder"@en ; + rdfs:label "135ใŠใ‚ˆใณ136ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใคใ”ใ†ใใ—ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡"@ja, "Other connective tissue disorder"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "135ๅŠใณ136ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ตๅˆ็ต„็น”็•ฐๅธธ็—‡"@ja . -:2200610 - :hasNotificationNumber "57" ; - terms:description "ๅ…ˆๅคฉ็š„ใชใƒ˜ใƒ ๅˆๆˆ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็šฎ่†šๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใจใ—ใฆๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆCEP๏ผ‰ใ€่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆEPP๏ผ‰ใซใ€่‚ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ไพ‹ใจใ—ใฆALA่„ฑๆฐด้…ต็ด ๆฌ ๆ็—‡ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆADP๏ผ‰ใ€ๆ€ฅๆ€ง้–“ๆญ‡ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆAIP๏ผ‰ใ€้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆHCP๏ผ‰ใ€็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(VP)ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆPCT๏ผ‰ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใจ้ชจ้ซ„ใฎไธกๆ–นใซ็•ฐๅธธใฎใ‚ใ‚‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใฏใ€่‚่ตค่Šฝ็ƒใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(HEP)ใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏใ€CEP ADP HEP ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ€ใใฎไป–ใฎ็—…ๅž‹ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200610" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ๅ…ˆๅคฉ็š„ใชใƒ˜ใƒ ๅˆๆˆ้…ต็ด ๆดปๆ€งใฎไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆฌ ๆใซใ‚ˆใ‚‹ๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็šฎ่†šๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใจใ—ใฆๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆCEP๏ผ‰ใ€่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆEPP๏ผ‰ใซใ€่‚ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ไพ‹ใจใ—ใฆALA่„ฑๆฐด้…ต็ด ๆฌ ๆ็—‡ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆADP๏ผ‰ใ€ๆ€ฅๆ€ง้–“ๆญ‡ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆAIP๏ผ‰ใ€้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆHCP๏ผ‰ใ€็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(VP)ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡๏ผˆPCT๏ผ‰ใŒใ‚ใ‚‹ใ€‚่‚่‡“ใจ้ชจ้ซ„ใฎไธกๆ–นใซ็•ฐๅธธใฎใ‚ใ‚‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡ใฏใ€่‚่ตค่Šฝ็ƒใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡(HEP)ใงใ‚ใ‚‹ใ€‚้บไผๅฝขๅผใฏใ€CEP ADP HEP ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ€ใใฎไป–ใฎ็—…ๅž‹ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200610" ; + dcterms:source ; a owl:Class ; - rdfs:label "porphyria"@en, "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019142, mondo:MONDO_0037939 ; + rdfs:label "Congenital porphyria"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019142 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . -:2200611 - :hasNotificationNumber "23" ; - terms:description "ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่‚่‡“ใงๅˆๆˆใ•ใ‚Œใ‚‹็ณ–ใ‚ฟใƒณใƒ‘ใ‚ฏใงใ€่ก€ๆถฒไธญใฎฮฑ1ใ‚ฐใƒญใƒ–ใƒชใƒณๅˆ†็”ปใฎ80ใ‹ใ‚‰90๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่ก€ๆตใ‚’ไป‹ใ—ใฆๆฟƒๅบฆไพๅญ˜็š„ใซ่‚บๅ†…ๆ‹กๆ•ฃใ—ใ€ๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ้˜ปๅฎณๅ‰คใจใ—ใฆ่‚บ่ƒžๅฃใฎ้šœๅฎณใ‚’้˜ฒใไฝœ็”จใŒใ‚ใ‚‹ใ€‚ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใŒ็”Ÿไฝ“ๅ†…ใงๆฌ ๆใ™ใ‚‹ใจใ€ๅฐๅ…ใงใฏใ€่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚้šœๅฎณใ€ๆˆไบบใงใฏๆ—ฉๆœŸ็™บ็—‡ๅž‹่‚บๆฐ—่…ซใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200611" ; - terms:source ; - a owl:Class ; - rdfs:label "Alpha-1-antitrypsin deficiency"@en, "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013282 ; + + nando:hasNotificationNumber "23" ; + dcterms:description "ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่‚่‡“ใงๅˆๆˆใ•ใ‚Œใ‚‹็ณ–ใ‚ฟใƒณใƒ‘ใ‚ฏใงใ€่ก€ๆถฒไธญใฎฮฑ1ใ‚ฐใƒญใƒ–ใƒชใƒณๅˆ†็”ปใฎ80ใ‹ใ‚‰90๏ผ…ใ‚’ๅ ใ‚ใ‚‹ใ€‚่‚่‡“ใงๅˆๆˆใ•ใ‚ŒใŸฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใฏใ€่ก€ๆตใ‚’ไป‹ใ—ใฆๆฟƒๅบฆไพๅญ˜็š„ใซ่‚บๅ†…ๆ‹กๆ•ฃใ—ใ€ๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ้˜ปๅฎณๅ‰คใจใ—ใฆ่‚บ่ƒžๅฃใฎ้šœๅฎณใ‚’้˜ฒใไฝœ็”จใŒใ‚ใ‚‹ใ€‚ฮฑ1ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณใŒ็”Ÿไฝ“ๅ†…ใงๆฌ ๆใ™ใ‚‹ใจใ€ๅฐๅ…ใงใฏใ€่ƒ†ๆฑใ†ใฃๆปžๆ€ง่‚้šœๅฎณใ€ๆˆไบบใงใฏๆ—ฉๆœŸ็™บ็—‡ๅž‹่‚บๆฐ—่…ซใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200611" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alpha-1-antitrypsin deficiency"@en, "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja, "ใ‚ใ‚‹ใตใ1ใ‚ใ‚“ใกใจใ‚Šใทใ—ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AATD"@en, "ฮฑ-1-antitrypsin deficiency"@en ; + skos:closeMatch obo:MONDO_0013282 ; skos:prefLabel "ฮฑ1-ใ‚ขใƒณใƒใƒˆใƒชใƒ—ใ‚ทใƒณๆฌ ๆ็—‡"@ja . -:2200612 - :hasNotificationNumber "10" ; - terms:description "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฏใ€็จฎใ€…ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ชจ้ซ„ใซๅทจ่ตค่Šฝ็ƒใŒๅ‡บ็พใ™ใ‚‹่ฒง่ก€ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณB12ๆฌ ไนใ‚„่‘‰้…ธๆฌ ไนใชใฉใซใ‚ˆใ‚Šใ€DNAๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œๆ ธใฎๆˆ็†Ÿ้šœๅฎณใ‚’ใใŸใ—ใ€็•ฐๅธธใชๅทจ่ตค่Šฝ็ƒใŒ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚RNAๅˆๆˆใ‚„ใ‚ฟใƒณใƒ‘ใ‚ฏๅˆๆˆ้šœๅฎณใฏ็›ธๅฏพ็š„ใซ่ปฝๅบฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€็ดฐ่ƒž่ณชใฏๆˆ็†Ÿใ—ๅคงใใใชใ‚Šใ€ๆœช็†Ÿใชๅคงใใ„ๆ ธใจ็ดฐ่ƒž่ณช้–“ใฎๆˆ็†Ÿไธไธ€่‡ดใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅทจ่ตค่Šฝ็ƒใฎๅคšใใฏๆˆ็†Ÿใ™ใ‚‹ใ“ใจใŒใงใใšใ€้ชจ้ซ„ๅ†…ใงใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใซใ‚ˆใ‚Šๆญปๆป…ใ—็„กๅŠน้€ ่ก€ใ‚’ใใŸใ™ใ€‚DNAๅˆๆˆ้šœๅฎณใฏๅ…จ่บซใง่ตทใ“ใ‚Šใ€่ฒง่ก€ไปฅๅค–ใซใ‚‚ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200612" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใจใฏใ€็จฎใ€…ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ชจ้ซ„ใซๅทจ่ตค่Šฝ็ƒใŒๅ‡บ็พใ™ใ‚‹่ฒง่ก€ใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ใƒ“ใ‚ฟใƒŸใƒณB12ๆฌ ไนใ‚„่‘‰้…ธๆฌ ไนใชใฉใซใ‚ˆใ‚Šใ€DNAๅˆๆˆใŒ้šœๅฎณใ•ใ‚Œๆ ธใฎๆˆ็†Ÿ้šœๅฎณใ‚’ใใŸใ—ใ€็•ฐๅธธใชๅทจ่ตค่Šฝ็ƒใŒ็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚RNAๅˆๆˆใ‚„ใ‚ฟใƒณใƒ‘ใ‚ฏๅˆๆˆ้šœๅฎณใฏ็›ธๅฏพ็š„ใซ่ปฝๅบฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€็ดฐ่ƒž่ณชใฏๆˆ็†Ÿใ—ๅคงใใใชใ‚Šใ€ๆœช็†Ÿใชๅคงใใ„ๆ ธใจ็ดฐ่ƒž่ณช้–“ใฎๆˆ็†Ÿไธไธ€่‡ดใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅทจ่ตค่Šฝ็ƒใฎๅคšใใฏๆˆ็†Ÿใ™ใ‚‹ใ“ใจใŒใงใใšใ€้ชจ้ซ„ๅ†…ใงใ‚ขใƒใƒˆใƒผใ‚ทใ‚นใซใ‚ˆใ‚Šๆญปๆป…ใ—็„กๅŠน้€ ่ก€ใ‚’ใใŸใ™ใ€‚DNAๅˆๆˆ้šœๅฎณใฏๅ…จ่บซใง่ตทใ“ใ‚Šใ€่ฒง่ก€ไปฅๅค–ใซใ‚‚ๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200612" ; + dcterms:source ; a owl:Class ; - rdfs:label "Megaloblastic anaemia"@en, "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; + rdfs:label "Megaloblastic anemia"@en, "ใใ‚‡ใ›ใใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Megaloblastic anaemia"@en ; + skos:closeMatch obo:MONDO_0001700 ; skos:prefLabel "ๅทจ่ตค่Šฝ็ƒๆ€ง่ฒง่ก€"@ja . -:2200613 - :hasNotificationNumber "26" ; - terms:description "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ใŠใ‚ˆใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใŒๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใฎใซๅฏพใ—ใ€่ตค่Šฝ็ƒ็™†ใงใฏ้ธๆŠž็š„ใซ่ตค่ก€็ƒ็ณปใฎใฟใŒๆธ›ๅฐ‘ใ—ใ€้‡็—‡ใฎ่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€็™ฝ่ก€็ƒๆ•ฐใจ่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใซไฟใŸใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใŒใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†ใจใ—ใฆDiamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งๆ…ขๆ€ง่ตค่Šฝ็ƒ็™†ใฏ็—…ๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งใจๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹็ถš็™บๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200613" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "่ตค่Šฝ็ƒ็™†ใฏๆญฃ็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใจ็ถฒ่ตค่ก€็ƒใฎ่‘—ๆธ›ใŠใ‚ˆใณ้ชจ้ซ„่ตค่Šฝ็ƒใฎ่‘—ๆธ›ใ‚’็‰นๅพดใจใ™ใ‚‹้€ ่ก€ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใŒๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’็‰นๅพดใจใ™ใ‚‹ใฎใซๅฏพใ—ใ€่ตค่Šฝ็ƒ็™†ใงใฏ้ธๆŠž็š„ใซ่ตค่ก€็ƒ็ณปใฎใฟใŒๆธ›ๅฐ‘ใ—ใ€้‡็—‡ใฎ่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€็™ฝ่ก€็ƒๆ•ฐใจ่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใซไฟใŸใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจๅพŒๅคฉๆ€งใŒใ‚ใ‚Šใ€ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†ใจใ—ใฆDiamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€งใฏ่‡จๅบŠ็ตŒ้Žใ‹ใ‚‰ๆ€ฅๆ€งใจๆ…ขๆ€งใซๅŒบๅˆ†ใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งๆ…ขๆ€ง่ตค่Šฝ็ƒ็™†ใฏ็—…ๅ› ไธๆ˜Žใฎ็‰น็™บๆ€งใจๅŸบ็คŽ็–พๆ‚ฃใ‚’ๆœ‰ใ™ใ‚‹็ถš็™บๆ€งใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200613" ; + dcterms:source ; a owl:Class ; - rdfs:label "acquired pure red cell aplasia"@en, "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020338 ; + rdfs:label "Acquired pure red cell aplasia"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ†"@ja-Hira, "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020338 ; skos:prefLabel "ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja . -:2200614 - :hasNotificationNumber "27" ; - terms:description "Diamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใฏใ€่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏๆญฃๅฝขๆˆใงใ‚ใ‚‹ใŒ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ก”่‰ฒไธ่‰ฏใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€1ๆญณใพใงใซ90๏ผ…ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚็ด„40๏ผ…ใฎไพ‹ใฏ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๆ•ฃ็™บไพ‹ใงใ‚ใ‚‹ใŒใ€็ด„10๏ฝž20๏ผ…ใฎ็—‡ไพ‹ใงใฏๅฎถๆ—ๆญดใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200614" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "Diamond-Blackfan่ฒง่ก€๏ผˆDBA๏ผ‰ใฏใ€่ตค่ก€็ƒ้€ ่ก€ใฎใฟใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งใฎ้€ ่ก€ไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใฏๆญฃๅฝขๆˆใงใ‚ใ‚‹ใŒ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใฎใฟใŒ่‘—ๆธ›ใ—ใ€ๆœซๆขข่ก€ใงใฏ็ถฒ่ตค่ก€็ƒใŒๆธ›ๅฐ‘ใ—ใ€ๅคง็ƒๆ€งๆญฃ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰้ก”่‰ฒไธ่‰ฏใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€1ๆญณใพใงใซ90๏ผ…ใŒ็™บ็—‡ใ™ใ‚‹ใ€‚็ด„40๏ผ…ใฎไพ‹ใฏ็จฎใ€…ใฎๅฅ‡ๅฝขใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใปใจใ‚“ใฉใŒๆ•ฃ็™บไพ‹ใงใ‚ใ‚‹ใŒใ€็ด„10๏ฝž20๏ผ…ใฎ็—‡ไพ‹ใงใฏๅฎถๆ—ๆญดใŒใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200614" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital red cell aplasia"@en, "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja ; + rdfs:label "Congenital red cell aplasia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใใŒใใ‚…ใ†ใ‚ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Diamond-Blackfan anaemia"@en, "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€"@ja ; + rdfs:subClassOf ; + skos:altLabel "Diamond-Blackfan anaemia"@en, "Diamond-Blackfan่ฒง่ก€"@ja, "ใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใƒƒใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€"@ja ; + skos:closeMatch obo:MONDO_0015253 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ตค่Šฝ็ƒ็™†"@ja . -:2200615 - :hasNotificationNumber "43" ; - terms:description "ๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ใŠใ‚ˆใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚Iๅž‹ใ‹ใ‚‰IIIๅž‹ใฎ๏ผ“็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200615" ; - terms:source ; - a owl:Class ; - rdfs:label "congenital dyserythropoietic anaemia"@en, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "CDA"@en ; - skos:closeMatch mondo:MONDO_0011855, mondo:MONDO_0019403 ; + + nando:hasNotificationNumber "43" ; + dcterms:description "ๅ…ˆๅคฉ็š„ใซ่ตค่ก€็ƒ็ณป็ดฐ่ƒžใซๅฝขๆˆ็•ฐๅธธใŒใ‚ใ‚Šใ€ๆ…ขๆ€งใฎไธๅฟœๆ€ง่ฒง่ก€ใ€็„กๅŠน้€ ่ก€ใŠใ‚ˆใณ็ถš็™บๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚’ไผดใ†็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚Iๅž‹ใ‹ใ‚‰IIIๅž‹ใฎ๏ผ“็—…ๅž‹ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200615" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital dyserythropoietic anemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CDA"@en, "Congenital dyserythropoietic anaemia"@en ; + skos:closeMatch obo:MONDO_0019403 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒๅฝขๆˆ็•ฐๅธธๆ€ง่ฒง่ก€"@ja . -:2200616 - :hasNotificationNumber "46" ; - terms:description "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„ใซใŠใ‘ใ‚‹็’ฐ็Šถ้‰„่Šฝ็ƒใฎๅ‡บ็พใ‚’็‰นๅพดใจใ—ใ€ๅŒๆ™‚ใซ็„กๅŠน้€ ่ก€ใŒ้€ฒ่กŒใ™ใ‚‹่ฒง่ก€ใงใ‚ใ‚‹ใ€‚็’ฐ็Šถ้‰„่Šฝ็ƒใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซใŠใ‘ใ‚‹้‰„ใฎๅˆฉ็”จ้šœๅฎณใซใ‚ˆใ‚Šๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใ€ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€ใƒ˜ใƒ ๅˆๆˆใฎ็•ฐๅธธใ€้‰„ - ็กซ้ป„ใ‚ฏใƒฉใ‚นใ‚ฟใƒผใฎๅˆๆˆใƒป่ผธ้€็•ฐๅธธใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚„ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAใฎๅค‰็•ฐใƒปๆฌ ๅคฑใชใฉใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใซๅฑžใ™ใ‚‹ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใจใ€่–ฌๅ‰คๆ€งใ€ไธญๆฏ’ๆ€งใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใชใŠใ€ๅ…ˆๅคฉๆ€งใ€ๅพŒๅคฉๆ€งใ‚’ๅ•ใ‚ใšใ€ๆœฌ็–พๆ‚ฃใฎไธ€้ƒจใซใƒ”ใƒชใƒ‰ใ‚ญใ‚ทใƒณๆฒป็™‚ใซๅๅฟœใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚Šใ€็‹ฌ็ซ‹ใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200616" ; - terms:source ; + + nando:hasNotificationNumber "46" ; + dcterms:description "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„ใซใŠใ‘ใ‚‹็’ฐ็Šถ้‰„่Šฝ็ƒใฎๅ‡บ็พใ‚’็‰นๅพดใจใ—ใ€ๅŒๆ™‚ใซ็„กๅŠน้€ ่ก€ใŒ้€ฒ่กŒใ™ใ‚‹่ฒง่ก€ใงใ‚ใ‚‹ใ€‚็’ฐ็Šถ้‰„่Šฝ็ƒใฏใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขใซใŠใ‘ใ‚‹้‰„ใฎๅˆฉ็”จ้šœๅฎณใซใ‚ˆใ‚Šๅฝขๆˆใ•ใ‚Œใ‚‹ใ€‚้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใจใ€ๅพŒๅคฉๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€ใƒ˜ใƒ ๅˆๆˆใฎ็•ฐๅธธใ€้‰„ - ็กซ้ป„ใ‚ฏใƒฉใ‚นใ‚ฟใƒผใฎๅˆๆˆใƒป่ผธ้€็•ฐๅธธใซใ‹ใ‹ใ‚ใ‚‹้บไผๅญใฎๅค‰็•ฐใ‚„ใ€ใƒŸใƒˆใ‚ณใƒณใƒ‰ใƒชใ‚ขDNAใฎๅค‰็•ฐใƒปๆฌ ๅคฑใชใฉใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅพŒๅคฉๆ€ง่ตค่Šฝ็ƒๆ€ง่ฒง่ก€ใฏใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค(MDS)ใซๅฑžใ™ใ‚‹ๅŽŸ็™บๆ€งใฎใ‚‚ใฎใจใ€่–ฌๅ‰คๆ€งใ€ไธญๆฏ’ๆ€งใฎไบŒๆฌกๆ€งใฎใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ใชใŠใ€ๅ…ˆๅคฉๆ€งใ€ๅพŒๅคฉๆ€งใ‚’ๅ•ใ‚ใšใ€ๆœฌ็–พๆ‚ฃใฎไธ€้ƒจใซใƒ”ใƒชใƒ‰ใ‚ญใ‚ทใƒณๆฒป็™‚ใซๅๅฟœใ™ใ‚‹ใ‚‚ใฎใŒใ‚ใ‚Šใ€็‹ฌ็ซ‹ใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200616" ; + dcterms:source ; a owl:Class ; - rdfs:label "sideroblastic anaemia"@en, "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; + rdfs:label "Sideroblastic anemia"@en, "ใฆใคใŒใใ‚…ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Sideroblastic anaemia"@en ; + skos:closeMatch obo:MONDO_0015194 ; skos:prefLabel "้‰„่Šฝ็ƒๆ€ง่ฒง่ก€"@ja . -:2200617 - :hasNotificationNumber "50" ; - terms:description "้‰„ใฎ่ผธ้€ใ‚’ๅธใ‚‹ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ๏ผˆtransferrin: TF๏ผ‰ใฎๆฌ ไนใซใ‚ˆใ‚Šใ€้ชจ้ซ„ใซ้‰„ใ‚’ไพ›็ตฆใงใใšใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ใพใŸๅŒๆ™‚ใซใ€ๅˆฉ็”จใ•ใ‚Œใชใ‹ใฃใŸ้‰„ใŒๅ…จ่บซใฎ่‡“ๅ™จใธๆฒˆ็€ใ—ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚‚ใใŸใ™ใ€‚"@ja ; - terms:identifier "2200617" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "้‰„ใฎ่ผธ้€ใ‚’ๅธใ‚‹ใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ๏ผˆtransferrin: TF๏ผ‰ใฎๆฌ ไนใซใ‚ˆใ‚Šใ€้ชจ้ซ„ใซ้‰„ใ‚’ไพ›็ตฆใงใใšใ€ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ€‚ใพใŸๅŒๆ™‚ใซใ€ๅˆฉ็”จใ•ใ‚Œใชใ‹ใฃใŸ้‰„ใŒๅ…จ่บซใฎ่‡“ๅ™จใธๆฒˆ็€ใ—ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใ‚‚ใใŸใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200617" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital atransferrinemia"@en, "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡"@ja ; + rdfs:label "Congenital atransferrinemia"@en, "ใ‚€ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008846 ; + rdfs:subClassOf ; + skos:altLabel "Congenital atransferrinaemia"@en ; + skos:closeMatch obo:MONDO_0008846 ; skos:prefLabel "็„กใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒชใƒณ่ก€็—‡"@ja . -:2200618 - :hasNotificationNumber "21" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200618" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200618" ; + dcterms:source ; a owl:Class ; - rdfs:label "cold agglutinin disease"@en, "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Cold agglutinin disease"@en, "ใ‹ใ‚“ใ‚Œใ„ใŽใ‚‡ใ†ใ—ใ‚…ใ†ใใ—ใ‚‡ใ†"@ja-Hira, "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CAD"@en ; - skos:closeMatch mondo:MONDO_0005010, mondo:MONDO_0018922 ; + skos:closeMatch obo:MONDO_0018922 ; skos:prefLabel "ๅฏ’ๅ†ทๅ‡้›†็ด ็—‡"@ja . -:2200619 - :hasNotificationNumber "22" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200619" ; - terms:source ; - a owl:Class ; - rdfs:label "paroxysmal cold haemoglobinuria"@en, "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "PCH"@en ; - skos:closeMatch mondo:MONDO_0019533, mondo:MONDO_0020135 ; + + nando:hasNotificationNumber "22" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200619" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paroxysmal cold hemoglobinuria"@en, "ใปใฃใ•ใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PCH"@en, "Paroxysmal cold haemoglobinuria"@en ; + skos:closeMatch obo:MONDO_0019533 ; skos:prefLabel "็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . -:2200620 - :hasNotificationNumber "23" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200620" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(AIHA)ใฏใ€่ตค่ก€็ƒ่†œไธŠใฎๆŠ—ๅŽŸใจๅๅฟœใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œใ€ๆŠ—ๅŽŸๆŠ—ไฝ“ๅๅฟœใฎ็ตๆžœใ€่ตค่ก€็ƒใŒๅ‚ทๅฎณใ‚’ๅ—ใ‘ใ€่ตค่ก€็ƒๅฏฟๅ‘ฝใŒ็Ÿญ็ธฎใ—่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใ€‚่‡ชๅทฑๆŠ—ไฝ“ใŒ่ตค่ก€็ƒใซ็ตๅˆใ™ใ‚‹่‡ณ้ฉๆธฉๅบฆใซใ‚ˆใ‚Šใ€ๆธฉๅผใจๅ†ทๅผใฎAIHAใซๅˆ†้กžใ•ใ‚Œใ€ๅ†ทๅผใซใฏๅฏ’ๅ†ทๅ‡้›†็ด ็—‡ใจ็™บไฝœๆ€งๅฏ’ๅ†ทใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200620" ; + dcterms:source ; a owl:Class ; - rdfs:label "7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja, "autoimmune haemolytic anaemia"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "AIHA"@en ; - skos:closeMatch mondo:MONDO_0020108 ; + rdfs:label "7ใŠใ‚ˆใณ8ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja, "Other autoimmune hemolytic anemia"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Other autoimmune haemolytic anaemia"@en ; skos:prefLabel "7ๅŠใณ8ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:2200621 - :hasNotificationNumber "48" ; - terms:description "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆparoxysmal nocturnal hemoglobinuria๏ผŒPNH๏ผ‰ใฏใ€PIG-A้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€๏ผˆใ‚ฏใƒผใƒ ใ‚น้™ฐๆ€ง๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆaplastic anemia๏ผŒAA๏ผ‰ใ‚’ไปฃ่กจใจใ™ใ‚‹ๅพŒๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏ็จ€ใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ใพใŸ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ‚‚ใ‚ใ‚‹1)ใ€‚"@ja ; - terms:identifier "2200621" ; - terms:source ; - a owl:Class ; - rdfs:label "paroxysmal nocturnal haemoglobinuria"@en, "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "PNH"@en ; - skos:closeMatch mondo:MONDO_0018641 ; + + nando:hasNotificationNumber "48" ; + dcterms:description "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡๏ผˆparoxysmal nocturnal hemoglobinuria๏ผŒPNH๏ผ‰ใฏใ€PIG-A้บไผๅญใซๅพŒๅคฉ็š„ๅค‰็•ฐใ‚’ๆŒใฃใŸ้€ ่ก€ๅนน็ดฐ่ƒžใŒใ‚ฏใƒญใƒผใƒณๆ€งใซๆ‹กๅคงใ—ใŸ็ตๆžœใ€่ฃœไฝ“ใซใ‚ˆใ‚‹่ก€็ฎกๅ†…ๆบถ่ก€๏ผˆใ‚ฏใƒผใƒ ใ‚น้™ฐๆ€ง๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹้€ ่ก€ๅนน็ดฐ่ƒž็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆaplastic anemia๏ผŒAA๏ผ‰ใ‚’ไปฃ่กจใจใ™ใ‚‹ๅพŒๅคฉๆ€ง้ชจ้ซ„ไธๅ…จ็–พๆ‚ฃใจใ—ใฐใ—ใฐๅˆไฝตใƒป็›ธไบ’็งป่กŒใ™ใ‚‹ใ€‚่ก€ๆ “็—‡ใฏๆœฌ้‚ฆไพ‹ใงใฏ็จ€ใงใฏใ‚ใ‚‹ใŒใ€PNHใซ็‰นๅพด็š„ใชๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ใพใŸ็จ€ใงใฏใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ‚‚ใ‚ใ‚‹1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200621" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Paroxysmal nocturnal hemoglobinuria"@en, "ใปใฃใ•ใ›ใ„ใ‚„ใ‹ใ‚“ใธใ‚‚ใใ‚ใณใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PNH"@en, "Paroxysmal nocturnal haemoglobinuria"@en ; + skos:closeMatch obo:MONDO_0018641 ; skos:prefLabel "็™บไฝœๆ€งๅคœ้–“ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณๅฐฟ็—‡"@ja . -:2200622 - :hasNotificationNumber "1" ; - terms:description "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200622" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200622" ; + dcterms:source ; a owl:Class ; - rdfs:label "hereditary spherocytosis"@en, "้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡"@ja ; + rdfs:label "Hereditary spherocytosis"@en, "ใ„ใงใ‚“ใ›ใ„ใใ‚…ใ†ใ˜ใ‚‡ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "HS"@en ; - skos:closeMatch mondo:MONDO_0019350, mondo:MONDO_0019395 ; + skos:closeMatch obo:MONDO_0019350 ; skos:prefLabel "้บไผๆ€ง็ƒ็Šถ่ตค่ก€็ƒ็—‡"@ja . -:2200623 - :hasNotificationNumber "4" ; - terms:description "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200623" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "่ตค่ก€็ƒ่†œใฎ้บไผ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ตค่ก€็ƒใŒ็ ดๅฃŠใ•ใ‚Œใ€่ฒง่ก€ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒใฎ่†œใƒป้…ต็ด ใƒปใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚‹3ๅคง้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚่ตค่ก€็ƒ่†œ็•ฐๅธธใซใ‚ˆใ‚‹้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใซใฏใ€ใใฎ่ตค่ก€็ƒใฎๅฝขๆ…‹ใ‹ใ‚‰็ƒ็Šถ่ตค่ก€็ƒ็—‡ใƒปๆฅ•ๅ††่ตค่ก€็ƒ็—‡ใƒปๅฃๅ”‡่ตค่ก€็ƒ็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200623" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary stomatocytosis"@en, "ๅฃๅ”‡่ตค่ก€็ƒ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0020102 ; + rdfs:label "Hereditary stomatocytosis"@en, "ใ“ใ†ใ—ใ‚“ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅฃๅ”‡่ตค่ก€็ƒ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020102 ; skos:prefLabel "ๅฃๅ”‡่ตค่ก€็ƒ็—‡"@ja . -:2200624 - :hasNotificationNumber "2" ; - terms:description "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "2200624" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚ใƒ›ใƒขๆŽฅๅˆไฝ“ใซใฟใ‚‰ใ‚Œใ‚‹ๆ…ขๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€ๆœซๆขข่ก€ๆต้–‰ๅกžใซใ‚ˆใ‚‹็–ผ็—›็™บไฝœใ€ใใฎๅพŒ้บ็—‡ใจใ—ใฆๅคš่‡“ๅ™จ้šœๅฎณใ‚’็‰นๅพดใจใ™ใ‚‹้‡็ฏคใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200624" ; + dcterms:source ; a owl:Class ; - rdfs:label "sickle cell disease"@en, "้ŽŒ็Šถ่ตค่ก€็ƒ็—‡"@ja ; + rdfs:label "Sickle cell disease"@en, "ใ‹ใพใ˜ใ‚‡ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ŽŒ็Šถ่ตค่ก€็ƒ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "SCD"@en ; - skos:closeMatch mondo:MONDO_0000359, mondo:MONDO_0007374, mondo:MONDO_0011382, mondo:MONDO_0018484 ; + skos:closeMatch obo:MONDO_0011382 ; skos:prefLabel "้ŽŒ็Šถ่ตค่ก€็ƒ็—‡"@ja . -:2200625 - :hasNotificationNumber "7" ; - terms:description "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "2200625" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbใฎใ‚ฐใƒญใƒ“ใƒณ้Ž–ใ‚ขใƒŸใƒŽ้…ธๅค‰็•ฐใซใ‚ˆใ‚ŠHbใฎๅฎ‰ๅฎšๆ€งใŒๅคฑใ‚ใ‚Œ๏ผŒ้…ธๅŒ–ใ‚นใƒˆใƒฌใ‚นใซๅฏพใ™ใ‚‹ๆŠตๆŠ—ๆ€งใŒๆธ›ๅผฑใ—ใฆๆ…ขๆ€งๆบถ่ก€ใ‚„ไธ€้Žๆ€งใฎๆบถ่ก€็™บไฝœใ‚’่ตทใ“ใ™ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200625" ; + dcterms:source ; a owl:Class ; - rdfs:label "Unstable haemoglobin disease"@en, "ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡"@ja ; + rdfs:label "Unstable hemoglobin disease"@en, "ใตใ‚ใ‚“ใฆใ„ใธใ‚‚ใใ‚ใณใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Unstable haemoglobin disease"@en ; + skos:closeMatch obo:MONDO_0020459 ; skos:prefLabel "ไธๅฎ‰ๅฎšใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ็—‡"@ja . -:2200626 - :hasNotificationNumber "5" ; - terms:description "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚Hbใฎ่ณช็š„็•ฐๅธธใงใ‚ใ‚‹็•ฐๅธธHb็—‡ใงๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ไธๅฎ‰ๅฎšHb็—‡ใฏใ€Hbๅˆ†ๅญใฎไธๅฎ‰ๅฎšๆ€งใ‹ใ‚‰่ปฝๅบฆใ‹ใ‚‰่ถ…ไธๅฎ‰ๅฎšใชใ‚‚ใฎใพใงๅน…ๅบƒใๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฎ‰ๅฎšๅž‹ใฎ็•ฐๅธธHbๅซ้‡ใฏๆญฃๅธธHbใจๅŒ็ญ‰ใงใ‚ใ‚‹ใŒใ€ไธๅฎ‰ๅฎšๅบฆใŒๅข—ใ™ใปใฉๅค‰ๆ€งใŒๆ—ฉใใชใ‚Šใ€ๅซ้‡ใŒๆธ›ใ‚‹ใ€‚ใใฎไธญใงใ‚‚ใ€้ŽŒ็Šถ่ตค่ก€็ƒ็—‡๏ผˆHbS็—‡๏ผ‰ใฏๆœซๆขข่ก€ใฎ่ตค่ก€็ƒๅฝขๆ…‹ใŒ้ŽŒ็Šถใ‚’็คบใ™็•ฐๅธธHb็—‡ใงใ‚ใ‚‹ใ€‚HbS็—‡ใฏHbAใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใงใ‚ใ‚‹ฮฒใ‚ฐใƒญใƒ“ใƒณ้บไผๅญใฎ6็•ช็›ฎใฎใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธใŒใƒใƒชใƒณใซ็ฝฎๆ›ใ•ใ‚ŒใŸ็ตๆžœ็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "2200626" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ใƒ’ใƒˆใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณ๏ผˆ่ก€่‰ฒ็ด ใ€Hb๏ผ‰ใฏ141ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใคฮฑใ‚ฐใƒญใƒ“ใƒณใจ146ๅ€‹ใฎใ‚ขใƒŸใƒŽ้…ธใ‚’ๆŒใค้žฮฑใ‚ฐใƒญใƒ“ใƒณใฎๅ„2ๅˆ†ๅญใ‹ใ‚‰ใชใ‚‹ๅ››้‡ไฝ“ใงใ‚ใ‚‹ใ€‚ๅ„ใ‚ฐใƒญใƒ“ใƒณใฎใ‚ตใƒ–ใƒฆใƒ‹ใƒƒใƒˆใฎ็–Žๆฐดๆ€งใƒใ‚ฑใƒƒใƒˆใซใฏ1ๅ€‹ใฎใƒ˜ใƒ ใŒ็ตๅˆใ—ใฆใŠใ‚Šใ€Hbใฏ่จˆ4ๅ€‹ใฎใƒ˜ใƒ ใ‚’ๆŒใฃใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎHbใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚Hb็•ฐๅธธ็—‡ใฎใ†ใกHbใฎ้‡็š„็•ฐๅธธใ‚’ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ„ใ€่ณช็š„็•ฐๅธธใ‚’็•ฐๅธธHb็—‡ใจใ„ใ†ใ€‚ใ‚ตใƒฉใ‚ปใƒŸใ‚ขใฏใ‚ฐใƒญใƒ“ใƒณใฎฮฑ้Ž–ใ€้žฮฑ้Ž–ใฎๅˆๆˆๆฌ ๆใซใ‚ˆใ‚‹็„กๅŠน้€ ่ก€ใ‹ใ‚‰ๅฐ็ƒๆ€งไฝŽ่‰ฒ็ด ๆ€ง่ฒง่ก€ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ฮฑ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใ€ฮฒ้Ž–็•ฐๅธธใซใ‚ˆใ‚‹ใ‚‚ใฎใ‚’ฮฒใ‚ตใƒฉใ‚ปใƒŸใ‚ขใจใ„ใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200626" ; + dcterms:source ; a owl:Class ; - rdfs:label "thalassaemia"@en, "ใ‚ตใƒฉใ‚ปใƒŸใ‚ข"@ja ; + rdfs:label "Thalassemia"@en, "ใ•ใ‚‰ใ›ใฟใ‚"@ja-Hira, "ใ‚ตใƒฉใ‚ปใƒŸใ‚ข"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Thalassaemia"@en ; + skos:closeMatch obo:MONDO_0000984 ; skos:prefLabel "ใ‚ตใƒฉใ‚ปใƒŸใ‚ข"@ja . -:2200627 - :hasNotificationNumber "3" ; - terms:description "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200627" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200627" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glucose-6-phosphate dehydrogenase deficiency"@en, "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡"@ja ; + rdfs:label "Glucose-6-phosphate dehydrogenase deficiency"@en, "ใใ‚‹ใ“ใƒผใ™6ใ‚Šใ‚“ใ•ใ‚“ใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005775 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005775 ; skos:prefLabel "ใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด ๆฌ ไน็—‡"@ja . -:2200628 - :hasNotificationNumber "6" ; - terms:description "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200628" ; - terms:source ; - a owl:Class ; - rdfs:label "Hemolytic anaemia due to red cell pyruvate kinase deficiency"@en, "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "6" ; + dcterms:description "่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใฏใ€่ตค่ก€็ƒๆฉŸ่ƒฝใ‚’็ถญๆŒใ™ใ‚‹ไธŠใง้‡่ฆใช่งฃ็ณ–็ณปใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธๅ›ž่ทฏใ€ใ‚ฐใƒซใ‚ฟใƒใ‚ชใƒณไปฃ่ฌใƒปๅˆๆˆ็ณปใ€ใชใ‚‰ใณใซใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌใซ้–ข้€ฃใ—ใŸ้…ต็ด ใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใฎๅŽŸๅ› ใงๅคšใ่ฆ‹ใ‚‰ใ‚Œใ‚‹่ตค่ก€็ƒ้…ต็ด ็•ฐๅธธ็—‡ใงใฏใ€่งฃ็ณ–็ณป้…ต็ด ็•ฐๅธธ็—‡ใจใ—ใฆใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ(PK)็•ฐๅธธ็—‡ใ€ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒชใƒณ้…ธใ‚คใ‚ฝใƒกใƒฉใƒผใ‚ผ(GPI)็•ฐๅธธ็—‡ใ€ใƒšใƒณใƒˆใƒผใ‚นใƒชใƒณ้…ธ็ตŒ่ทฏใงใฏใ‚ฐใƒซใ‚ณใƒผใ‚น-6-ใƒชใƒณ้…ธ่„ฑๆฐด็ด ้…ต็ด (G6PD)็•ฐๅธธ็—‡ใ€ใใ—ใฆใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ไปฃ่ฌ็ณปใงใฏใƒ”ใƒชใƒŸใ‚ธใƒณ-5'-ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ€ใƒผใ‚ผ(P5N)็•ฐๅธธ็—‡ใฎ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200628" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hemolytic anemia due to red cell pyruvate kinase deficiency"@en, "ใดใ‚‹ใณใ‚“ใ•ใ‚“ใใชใƒผใœใ‘ใคใผใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hemolytic anaemia due to red cell pyruvate kinase deficiency"@en ; + skos:closeMatch obo:MONDO_0009950 ; skos:prefLabel "ใƒ”ใƒซใƒ“ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผๆฌ ไนๆ€ง่ฒง่ก€"@ja . -:2200629 - :hasNotificationNumber "8" ; - terms:description "ไปฅไธ‹ใฎๆง˜ใช็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸ๏ผˆ่ƒŽๅ…ๆœŸ๏ผ‰ใฎๆบถ่ก€ๆ€ง่ฒง่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€็„ก็—‡็Šถใซ็ตŒ้Žใ™ใ‚‹ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚่ฉณ็ดฐใฏๆˆๆ›ธ๏ผˆNathan & Oski's Hematology of Infancy and Childhood, Saunders ๏ผ‰ใ‚’ๅ‚็…งใ€‚้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ Hereditary elliptocytosisใ€Hereditaryใ€€pyropoikilocytosis,Classic hereditary XerocytosisSomatocytic XerocytosisXerocytosis with high phosphatiylcholine hemolytic anemiaHemoglobin C disease"@ja ; - terms:identifier "2200629" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ไปฅไธ‹ใฎๆง˜ใช็–พๆ‚ฃใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚็จ€ใช็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸ๏ผˆ่ƒŽๅ…ๆœŸ๏ผ‰ใฎๆบถ่ก€ๆ€ง่ฒง่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€็„ก็—‡็Šถใซ็ตŒ้Žใ™ใ‚‹ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚่ฉณ็ดฐใฏๆˆๆ›ธ๏ผˆNathan & Oski's Hematology of Infancy and Childhood, Saunders ๏ผ‰ใ‚’ๅ‚็…งใ€‚้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡ Hereditary elliptocytosisใ€Hereditaryใ€€pyropoikilocytosis,Classic hereditary XerocytosisSomatocytic XerocytosisXerocytosis with high phosphatiylcholine hemolytic anemiaHemoglobin C disease"@ja ; + dcterms:identifier "NANDO:2200629" ; + dcterms:source ; a owl:Class ; - rdfs:label "11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja, "Other hereditary haemolytic anaemia"@en ; + rdfs:label "11ใ‹ใ‚‰17ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ„ใงใ‚“ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja, "Other hereditary hemolytic anemia"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Other hereditary haemolytic anaemia"@en ; skos:prefLabel "11ใ‹ใ‚‰17ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้บไผๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:2200630 - :hasNotificationNumber "8" ; - terms:identifier "2200630" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2200630" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary elliptocytosis"@en, "้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡"@ja ; + rdfs:label "Hereditary elliptocytosis"@en, "ใ„ใงใ‚“ใ›ใ„ใ ใˆใ‚“ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017319 ; + rdfs:subClassOf ; + skos:altLabel "HE"@en ; + skos:closeMatch obo:MONDO_0017319 ; skos:prefLabel "้บไผๆ€งๆฅ•ๅ††่ตค่ก€็ƒ็—‡"@ja . -:2200631 - :hasNotificationNumber "8" ; - terms:identifier "2200631" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2200631" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditaryใ€€pyropoikilocytosis"@en, "้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009948 ; + rdfs:label "Hereditary pyropoikilocytosis"@en, "ใ„ใงใ‚“ใ›ใ„ใญใคใธใ‚“ใ‘ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HPP"@en ; + skos:closeMatch obo:MONDO_0009948 ; skos:prefLabel "้บไผๆ€ง็†ฑๅค‰ๅฝข่ตค่ก€็ƒ็—‡"@ja . -:2200632 - :hasNotificationNumber "8" ; - terms:identifier "2200632" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2200632" ; + dcterms:source ; a owl:Class ; - rdfs:label "Classic hereditary Xerocytosis"@en, "Classic hereditary Xerocytosis"@ja ; + rdfs:label "Classic hereditary Xerocytosis"@ja, "Classic hereditary xerocytosis"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ๅคๅ…ธ็š„้บไผๆ€งไนพ็‡ฅ่ตค่ก€็ƒ็—‡"@ja ; + rdfs:subClassOf ; + skos:altLabel "DHSt"@en, "Dehydrated hereditary stomatocytosis"@en, "HX"@en, "Hereditary xerocytosis"@en, "ๅคๅ…ธ็š„้บไผๆ€งไนพ็‡ฅ่ตค่ก€็ƒ็—‡"@ja ; skos:prefLabel "Classic hereditary Xerocytosis"@ja . -:2200633 - :hasNotificationNumber "8" ; - terms:identifier "2200633" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2200633" ; + dcterms:source ; a owl:Class ; - rdfs:label "Somatocytic Xerocytosis"@en, "Somatocytic Xerocytosis"@ja ; + rdfs:label "Stomatocytic Xerocytosis"@ja, "Stomatocytic xerocytosis"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "Somatocytic Xerocytosis"@ja . - -:2200634 - :hasNotificationNumber "8" ; - terms:identifier "2200634" ; - terms:source ; - a owl:Class ; - rdfs:label "Xerocytosis with high phosphatiylcholine hemolytic anemia"@en, "Xerocytosis with high phosphatiylcholine hemolytic anemia"@ja ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017910 ; + skos:prefLabel "Stomatocytic Xerocytosis"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2200634" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Xerocytosis with high phosphatidylcholine hemolytic anemia"@en, "ใ„ใงใ‚“ใ›ใ„ใ“ใ†ใ›ใฃใ‘ใฃใใ‚…ใ†ใพใใปใ™ใตใใกใ˜ใ‚‹ใ“ใ‚Šใ‚“ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "้บไผๆ€ง้ซ˜่ตค่ก€็ƒ่†œใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HPCHA"@en, "HX with hyperphosphatidylcholine hemolytic anemia"@en, "Xerocytosis with high phosphatidylcholine haemolytic anaemia"@en ; + skos:closeMatch obo:MONDO_0008367 ; + skos:prefLabel "้บไผๆ€ง้ซ˜่ตค่ก€็ƒ่†œใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚ณใƒชใƒณๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2200635" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hemoglobin C disease"@en, "ใธใ‚‚ใใ‚ใณใ‚“ใ—ใƒผใ—ใ‚‡ใ†"@ja-Hira, "ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "Xerocytosis with high phosphatiylcholine hemolytic anemia"@ja . - -:2200635 - :hasNotificationNumber "8" ; - terms:identifier "2200635" ; - terms:source ; - a owl:Class ; - rdfs:label "Hemoglobin C disease"@en, "ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016242 ; + rdfs:subClassOf ; + skos:altLabel "Haemoglobin C disease"@en ; + skos:closeMatch obo:MONDO_0016242 ; skos:prefLabel "ใƒ˜ใƒขใ‚ฐใƒญใƒ“ใƒณC็—‡"@ja . -:2200636 - :hasNotificationNumber "52" ; - terms:description "่„พๆฉŸ่ƒฝไบข้€ฒใซใ‚ˆใ‚Šใ€่ตค่ก€็ƒ็ ดๅฃŠใฎไบข้€ฒใ‚„ๆ•ๆ‰ใƒป่ฒฏ่”ต่ƒฝใฎๅข—ๅคงใŒ่ตทใ“ใ‚Š่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€โ‘ ๏ผ‘็ณป็ตฑไปฅไธŠใฎ่ก€็ƒๆธ›ๅฐ‘ใ€โ‘ก่ก€็ƒๆธ›ๅฐ‘ใซๅฏพๅฟœใ—ใŸ้ชจ้ซ„้Žๅฝขๆˆใ€โ‘ข่„พ่…ซใ€โ‘ฃ่„พๆ‘˜ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใฎๆ”นๅ–„ใ€ใฎ4้ …็›ฎใ™ในใฆใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆDameshek๏ผ‰ใ€‚"@ja ; - terms:identifier "2200636" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:description "่„พๆฉŸ่ƒฝไบข้€ฒใซใ‚ˆใ‚Šใ€่ตค่ก€็ƒ็ ดๅฃŠใฎไบข้€ฒใ‚„ๆ•ๆ‰ใƒป่ฒฏ่”ต่ƒฝใฎๅข—ๅคงใŒ่ตทใ“ใ‚Š่ฒง่ก€ใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€โ‘ ๏ผ‘็ณป็ตฑไปฅไธŠใฎ่ก€็ƒๆธ›ๅฐ‘ใ€โ‘ก่ก€็ƒๆธ›ๅฐ‘ใซๅฏพๅฟœใ—ใŸ้ชจ้ซ„้Žๅฝขๆˆใ€โ‘ข่„พ่…ซใ€โ‘ฃ่„พๆ‘˜ใซใ‚ˆใ‚‹่ก€็ƒๆธ›ๅฐ‘ใฎๆ”นๅ–„ใ€ใฎ4้ …็›ฎใ™ในใฆใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผˆDameshek๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200636" ; + dcterms:source ; a owl:Class ; - rdfs:label "haemolytic anaemia"@en, "ๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:label "Hemolytic anemia"@en, "ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Haemolytic anaemia"@en ; + skos:closeMatch obo:MONDO_0003664 ; skos:prefLabel "ๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:2200637 - :hasNotificationNumber "52" ; - terms:identifier "2200637" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:identifier "NANDO:2200637" ; + dcterms:source ; a owl:Class ; - rdfs:label "haemolytic anaemia due to hypersplenism"@en, "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; + rdfs:label "Hypersplenism"@en, "ใฒใใฎใ†ใ“ใ†ใ—ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006795 ; skos:prefLabel "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡"@ja . -:2200638 - :hasNotificationNumber "47" ; - terms:description "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ"@ja ; - terms:identifier "2200638" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200638" ; + dcterms:source ; a owl:Class ; - rdfs:label "microangiopathic haemolytic anaemia"@en, "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:label "Microangiopathic hemolytic anemia"@en, "ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "MAHA"@en ; + rdfs:subClassOf ; + skos:altLabel "MAHA"@en, "Microangiopathic haemolytic anaemia"@en ; skos:prefLabel "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . -:2200639 - :hasNotificationNumber "47" ; - terms:description "ๅฟ—่ณ€ๆฏ’็ด ๏ผˆShiga toxin: STX๏ผŒใƒ™ใƒญๆฏ’็ด  Vero toxin: VTใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’็”ฃ็”Ÿใ™ใ‚‹่…ธ็ฎกๅ‡บ่ก€ๆ€งๅคง่…ธ่Œ๏ผˆ enterohemorrhagic Escherichia coli: EHEC๏ผ‰ใซใ‚ˆใ‚‹่…ธ็‚Žใซๅผ•ใ็ถšใ๏ผŒTMAใฎ3ไธปๅพด๏ผˆๆจ™็š„้šœๅฎณ่‡“ๅ™จใฏ่…Ž๏ผ‰ใŒใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒSTEC-HUSใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ"@ja ; - terms:identifier "2200639" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "ๅฟ—่ณ€ๆฏ’็ด ๏ผˆShiga toxin: STX๏ผŒใƒ™ใƒญๆฏ’็ด  Vero toxin: VTใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹๏ผ‰ใ‚’็”ฃ็”Ÿใ™ใ‚‹่…ธ็ฎกๅ‡บ่ก€ๆ€งๅคง่…ธ่Œ๏ผˆ enterohemorrhagic Escherichia coli: EHEC๏ผ‰ใซใ‚ˆใ‚‹่…ธ็‚Žใซๅผ•ใ็ถšใ๏ผŒTMAใฎ3ไธปๅพด๏ผˆๆจ™็š„้šœๅฎณ่‡“ๅ™จใฏ่…Ž๏ผ‰ใŒใฟใ‚‰ใ‚Œใ‚‹ใ‚‚ใฎใŒSTEC-HUSใจๅฎš็พฉใ•ใ‚Œใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200639" ; + dcterms:source ; a owl:Class ; - rdfs:label "disseminated intravascular coagulation"@en, "ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค"@ja ; + rdfs:label "Disseminated intravascular coagulation"@en, "ใฏใ—ใ‚…ใ›ใ„ใ‘ใฃใ‹ใ‚“ใชใ„ใŽใ‚‡ใ†ใ“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "DIC"@en ; - skos:closeMatch mondo:MONDO_0001243 ; + skos:closeMatch obo:MONDO_0001243 ; skos:prefLabel "ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ็—‡ๅ€™็พค"@ja . -:2200640 - :hasNotificationNumber "47" ; - terms:description "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ"@ja ; - terms:identifier "2200640" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "ๅพฎๅฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€๏ผˆMAHA๏ผ‰ใฏๆง˜ใ€…ใชๅŽŸๅ› ็–พๆ‚ฃใ‚’่ƒŒๆ™ฏใซ็ดฐๅฐ่ก€็ฎกใงๅพฎๅฐ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œ่ตค่ก€็ƒ็ ด็ •ใŒ่ตทใ“ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡๏ผˆthrombotic microangiopathy : TMA๏ผ‰ใ‚„ๆ’ญ็จฎๆ€ง่ก€็ฎกๅ†…ๅ‡ๅ›บ๏ผˆdisseminated intravascular coagulation๏ผšDIC๏ผ‰ใฏไธปใŸใ‚‹็—…ๅ› ใจใชใ‚‹๏ผŽ่ฟ‘ๅนด๏ผŒvon Willebrandๅ› ๅญ(VWF)ใฎ็‰น็•ฐ็š„ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13๏ผˆa disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13๏ผ‰ใซ้–ขใ™ใ‚‹็ ”็ฉถใŒ้ฃ›่บ็š„ใซ้€ฒๆญฉใ™ใ‚‹ไธญใง๏ผŒ่ก€ๅฐๆฟ่ก€ๆ “ไธปไฝ“ใฎTMAใจใƒ•ใ‚ฃใƒ–ใƒชใƒณ่ก€ๆ “ไธปไฝ“ใฎDICใฏๆ˜Ž็ขบใซๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ๏ผŽTMAใจใฏโ‘ ใ‚ฏใƒผใƒ ใ‚น่ฉฆ้จ“้™ฐๆ€งใฎMAHA๏ผˆ็ ด็ •่ตค่ก€็ƒใ‚’ไผดใ†่ฒง่ก€๏ผŒใƒใƒ—ใƒˆใ‚ฐใƒญใƒ“ใƒณไฝŽไธ‹๏ผŒLDHไธŠๆ˜‡๏ผŒ้–“ๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณไธŠๆ˜‡ใชใฉใ‚’ไผดใ†๏ผ‰๏ผŒโ‘กๆถˆ่€—ๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒโ‘ขๅพฎๅฐๅพช็’ฐ้šœๅฎณใซใ‚ˆใ‚‹่‡“ๅ™จ้šœๅฎณใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Š๏ผŒ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆthrombotic thrombocytopenic purpura : TTP๏ผ‰ใจๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค๏ผˆhemolytic uremic syndrome : HUS๏ผ‰ใŒๅซใพใ‚Œใ‚‹๏ผŽไธก็–พๆ‚ฃใฏๆ˜Ž็ขบใซๅŒบๅˆ†ใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚Š๏ผŒใใฎไปฃ่กจใŒ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒTMA๏ผˆSCT-TMA๏ผ‰ใงใ‚ใ‚‹๏ผŽHUSใฏๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œ๏ผˆShiga toxin-producing Escherichia coli : STEC๏ผ‰ใซ่ตทๅ› ใ™ใ‚‹STEC-HUSใจ๏ผŒไธ‹็—ข็—‡็Šถใ‚’ไผดใ‚ใชใ„้žๅฎšๅž‹HUS๏ผˆatypical HUS : aHUS๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹๏ผŽใ“ใฎใ‚ˆใ†ใซMAHAใฏๅคšๅฒใซใ‚ใŸใ‚‹็–พๆ‚ฃใ‚’ๅซใ‚€็—…ๆ…‹ใงใ‚ใ‚‹๏ผŽไปฅไธ‹๏ผŒSTEC-HUS๏ผŒaHUS๏ผŒSCT-TMA๏ผŒDICใฎใใ‚Œใžใ‚Œใซใคใ„ใฆๆฆ‚่ชฌใ™ใ‚‹๏ผŽๅบƒๆฑŽใช็–พๆ‚ฃๆฆ‚ๅฟตใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹้žๅธธใซ่ค‡้›‘ใช็—…ๆ…‹ใงใ‚ใ‚‹ใŒ๏ผŒ่ฟ‘ๅนด๏ผŒ่จบๆ–ญใ‚„ๆฒป็™‚ใซ้–ขใ™ใ‚‹ใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒๆ•ดๅ‚™ใ•ใ‚Œใคใคใ‚ใ‚‹๏ผŽHUSใจDICใซ้–ขใ—ใฆใฏ2014ๅนด3ๆœˆๆ™‚็‚นใงๆœฌ้‚ฆใซใŠใ‘ใ‚‹่จบๆ–ญใƒปๆฒป็™‚ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใŒไฝœๆˆใ•ใ‚ŒใฆใŠใ‚Š๏ผŒๆœฌ็จฟใ‚‚ใใฎๅ†…ๅฎนใซๅพ“ใฃใŸ๏ผŽSCT-TMAใซ้–ขใ—ใฆใฏ๏ผŒ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณGVHD๏ผˆๆ—ฅๆœฌ้€ ่ก€็ดฐ่ƒž็งปๆคๅญฆไผš๏ผ‰ใฎใ€Œ่ณ‡ๆ–™3๏ผŽThrombotic microangiopathy๏ผˆTMA๏ผ‰ใ€ใฎ้ …ใ‚‚ไธ€้ƒจๅ‚็…งใ—ใŸ๏ผŽ่ฉณ็ดฐใฏๅ„ใ€…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใ‚’๏ผŒใพใŸ๏ผŒTTPใซ้–ขใ—ใฆใฏ๏ผŒๅˆฅ้ …ใ€Œ่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ใ‚’ๅ‚็…งใ•ใ‚ŒใŸใ„๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200640" ; + dcterms:source ; a owl:Class ; - rdfs:label "Shiga toxin-producing Escherichia coli hemolytic uremic syndrome"@en, "ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹"@ja ; + rdfs:label "Shiga toxin-producing escherichia coli hemolytic uremic syndrome"@en, "ใ—ใŒใฉใใใ•ใ‚“ใ›ใ„ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใณใ‚‡ใ†ใ’ใ‚“ใ ใ„ใกใ‚‡ใ†ใใ‚“ใซใ‚ˆใ‚‹"@ja-Hira, "ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "STEC-HUS"@en ; + rdfs:subClassOf ; + skos:altLabel "STEC-HUS"@en, "Shiga toxin-producing Escherichia coli haemolytic uremic syndrome"@en ; + skos:closeMatch obo:MONDO_0019536 ; skos:prefLabel "ๅฟ—่ณ€ๆฏ’็ด ็”ฃ็”Ÿ่…ธ็ฎกๅ‡บ่ก€ๆ€ง็—…ๅŽŸๅคง่…ธ่Œใซใ‚ˆใ‚‹"@ja . -:2200641 - :hasNotificationNumber "47" ; - terms:description "aHUSใฏ๏ผŒSTEC-HUSใจADAMTS13ใฎๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณใง๏ผŒMAHA๏ผŒ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒๆ€ฅๆ€ง่…Žๅ‚ทๅฎณ๏ผˆAKI๏ผ‰ใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹"@ja ; - terms:identifier "2200641" ; - terms:source ; - a owl:Class ; - rdfs:label "aHUS"@en, "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016244 ; + + nando:hasNotificationNumber "39" ; + dcterms:description "aHUSใฏ๏ผŒSTEC-HUSใจADAMTS13ใฎๆดปๆ€ง่‘—ๆธ›ใซใ‚ˆใ‚‹TTPไปฅๅค–ใฎ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณใง๏ผŒMAHA๏ผŒ่ก€ๅฐๆฟๆธ›ๅฐ‘๏ผŒๆ€ฅๆ€ง่…Žๅ‚ทๅฎณ๏ผˆAKI๏ผ‰ใ‚’3ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200641" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical hemolytic uremic syndrome"@en, "ใฒใฆใ‚“ใ‘ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใซใ‚‡ใ†ใฉใใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Atypical haemolytic uraemic syndrome"@en, "aHUS"@en ; + skos:closeMatch obo:MONDO_0016244 ; skos:prefLabel "้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พค"@ja . -:2200642 - :hasNotificationNumber "47" ; - terms:description "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใซ๏ผŒๅพฎๅฐ่ก€็ฎกใซ่ก€็ฎกๅ†…็šฎ็ดฐ่ƒž้šœๅฎณ๏ผŒ่ก€็ฎกๅฃใฎ็กๅญๆง˜ๅค‰ๆ€งใ‚’ไผดใ†่‚ฅๅŽšใ‹ใ‚‰ใชใ‚‹ๅพฎๅฐ่ก€็ฎก้šœๅฎณ๏ผˆmicroangiopathy๏ผ‰ใ‚’ใใŸใ—๏ผŒ่™š่ก€ๆ€ง่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200642" ; - terms:source ; + + nando:hasNotificationNumber "47" ; + dcterms:description "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใซ๏ผŒๅพฎๅฐ่ก€็ฎกใซ่ก€็ฎกๅ†…็šฎ็ดฐ่ƒž้šœๅฎณ๏ผŒ่ก€็ฎกๅฃใฎ็กๅญๆง˜ๅค‰ๆ€งใ‚’ไผดใ†่‚ฅๅŽšใ‹ใ‚‰ใชใ‚‹ๅพฎๅฐ่ก€็ฎก้šœๅฎณ๏ผˆmicroangiopathy๏ผ‰ใ‚’ใใŸใ—๏ผŒ่™š่ก€ๆ€ง่‡“ๅ™จ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200642" ; + dcterms:source ; a owl:Class ; - rdfs:label "SCT-TMA"@en, "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡"@ja ; + rdfs:label "Stem cell transplant-associated thrombotic microangiopathy"@en, "ใžใ†ใ‘ใคใ‹ใ‚“ใ•ใ„ใผใ†ใ„ใ—ใ‚‡ใใ”ใ‘ใฃใ›ใ‚“ใ›ใ„ใณใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚‡ใ†ใŒใ„ใ—ใ‚‡ใ†"@ja-Hira, "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "SCT-TMA"@en ; skos:prefLabel "้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒ่ก€ๆ “ๆ€งๅพฎๅฐ่ก€็ฎก้šœๅฎณ็—‡"@ja . -:2200643 - :hasNotificationNumber "25" ; - terms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200643" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200643" ; + dcterms:source ; a owl:Class ; - rdfs:label "polycythaemia vera"@en, "็œŸๆ€งๅคš่ก€็—‡"@ja ; + rdfs:label "Polycythemia vera"@en, "ใ—ใ‚“ใ›ใ„ใŸใ‘ใคใ—ใ‚‡ใ†"@ja-Hira, "็œŸๆ€งๅคš่ก€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "PV"@en ; - skos:closeMatch mondo:MONDO_0009891 ; + rdfs:subClassOf ; + skos:altLabel "PV"@en, "Polycythaemia vera"@en ; + skos:closeMatch obo:MONDO_0009891 ; skos:prefLabel "็œŸๆ€งๅคš่ก€็—‡"@ja . -:2200644 - :hasNotificationNumber "9" ; - terms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200644" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200644" ; + dcterms:source ; a owl:Class ; - rdfs:label "familial polycythaemia"@en, "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡"@ja ; + rdfs:label "Familial polycythemia"@en, "ใ‹ใžใใ›ใ„ใ›ใฃใ‘ใฃใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Familial polycythaemia"@en ; + skos:closeMatch obo:MONDO_0001115 ; skos:prefLabel "ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡"@ja . -:2200645 - :hasNotificationNumber "16" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œ่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆœฌ็—‡ใฏprimary immune thrombocytopenia๏ผˆไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅŽŸๅ› ็–พๆ‚ฃใซๅˆไฝตใ—ใŸ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏsecondary immune thrombocytopenia๏ผˆไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้‡็ฏคๅ‡บ่ก€ใฏ็จ€ใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฏๅทจๆ ธ็ƒใฎๅข—ๅŠ ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ITPใฎ่จบๆ–ญใฏ้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ็–พๆ‚ฃใ‚„่–ฌๅ‰คใฎ้–ขไธŽใ‚’้‘‘ๅˆฅใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ฮผLๆœชๆบ€ใงใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€ๅทจๆ ธ็ƒใฎๆˆ็†Ÿ้šœๅฎณใ‚„็ดฐ่ƒžๅ‚ทๅฎณใ‚’็”Ÿใ˜ใฆใŠใ‚Šใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200645" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€่ก€ๅฐๆฟ่†œ่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ็”ฃ็”Ÿใ•ใ‚Œ่ก€ๅฐๆฟใซ็ตๅˆใ™ใ‚‹็ตๆžœใ€ไธปใจใ—ใฆ่„พ่‡“ใซใŠใ‘ใ‚‹็ถฒๅ†…็ณป็ดฐ่ƒžใงใฎ่ก€ๅฐๆฟใฎ็ ดๅฃŠใŒไบข้€ฒใ—ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใใŸใ™่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใ€ๆœฌ็—‡ใฏprimary immune thrombocytopenia๏ผˆไธ€ๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅŽŸๅ› ็–พๆ‚ฃใซๅˆไฝตใ—ใŸ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏsecondary immune thrombocytopenia๏ผˆไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผ‰ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ€‚็จฎใ€…ใฎๅ‡บ่ก€็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€้‡็ฏคๅ‡บ่ก€ใฏ็จ€ใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ตค่ก€็ƒใ€็™ฝ่ก€็ƒ็ณปใซ็•ฐๅธธใ‚’่ชใ‚ใšใ€้ชจ้ซ„ใงใฏๅทจๆ ธ็ƒใฎๅข—ๅŠ ใ‚’่ชใ‚ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ITPใฎ่จบๆ–ญใฏ้™คๅค–่จบๆ–ญใŒไธปไฝ“ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ใ‚‚ใŸใ‚‰ใ™ๅŽŸๅ› ็–พๆ‚ฃใ‚„่–ฌๅ‰คใฎ้–ขไธŽใ‚’้‘‘ๅˆฅใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่ก€ๅฐๆฟๆธ›ๅฐ‘ใฏใ€่ก€ๅฐๆฟๆ•ฐ10ไธ‡/ฮผLๆœชๆบ€ใงใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ๆœ€่ฟ‘ใงใฏใ€ITPใซใŠใ„ใฆใฏ่ก€ๅฐๆฟ็ ดๅฃŠไบข้€ฒใฎใฟใชใ‚‰ใšใ€ๅทจๆ ธ็ƒใฎๆˆ็†Ÿ้šœๅฎณใ‚„็ดฐ่ƒžๅ‚ทๅฎณใ‚’็”Ÿใ˜ใฆใŠใ‚Šใ€่ก€ๅฐๆฟ็”ฃ็”Ÿใ‚‚ๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200645" ; + dcterms:source ; a owl:Class ; - rdfs:label "immune thrombocytopenic purpura"@en, "ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:label "Immune thrombocytopenic purpura"@en, "ใ‚ใ‚“ใˆใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008558 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008558 ; skos:prefLabel "ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:2200646 - :hasNotificationNumber "17" ; - terms:description "ๆœฌ็ดฐๅˆ†้กž24ใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏๅŽŸๅ› ็–พๆ‚ฃใฎๅˆไฝต็—‡ใ€ใ‚ใ‚‹ใ„ใฏไธ€็—‡็Šถใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใงใ€่‡จๅบŠๅƒใฏๅ€‹ๅˆฅใฎๅŽŸๅ› ็–พๆ‚ฃใซใ‚ˆใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใฎ้™คๅค–่จบๆ–ญใซใ‚ˆใ‚‹็ดฐๅˆ†้กž23ใ€Œๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆITP๏ผ‰ใ€ใŒ่ก€ๅฐๆฟใซ้™ๅฎšใ—ใŸ่ก€็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใฎใซๅฏพใ—ใฆใ€ๆœฌ็ดฐๅˆ†้กžใฎ็–พๆ‚ฃใฏ่ก€ๅฐๆฟๆธ›ๅฐ‘ใฎใฟใชใ‚‰ใšไป–ใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚„ๅ…็–ซ็•ฐๅธธใ‚’ไผดใ„ใ€ๅ‡บ่ก€็—‡็ŠถใซๅŠ ใˆใฆๅ€‹ใ€…ใฎๅŽŸๅ› ็–พๆ‚ฃใซ็‰นๆœ‰ใชๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆไบŒๆฌกๆ€งITP๏ผ‰ใฏใ€ๅ…็–ซ็•ฐๅธธใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ€ใ—ใฐใ—ใฐๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚‹่ก€ๆถฒๅ…็–ซ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใจใ—ใฆใฏ่† ๅŽŸ็—…ใ€ๅ…็–ซไธๅ…จ็—‡ใ€ใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ใƒ”ใƒญใƒชๆ„ŸๆŸ“ใ€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„็งปๆคๅพŒๅˆไฝต็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ๆฏๅญ้–“ใซใŠใ‘ใ‚‹่ก€ๅฐๆฟๆŠ—ๅŽŸใ‚„HLAๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹ๆฏ่ฆชใฎๅŒ็จฎๆŠ—ไฝ“ใŒ็ตŒ่ƒŽ็›ค็š„ใซๅ…ใซ็งป่กŒใ™ใ‚‹ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚„ITPๅˆไฝตๆฏไฝ“ใฎๅ‡บ็”Ÿๅ…ใงใฏไธ€้Žๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚ใพใŸใ€ๅฐๅ…ใซใŠใ„ใฆใฏ้žๅ…็–ซๅญฆ็š„็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใŒ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‚‚ใ—ใฐใ—ใฐ็ตŒ้จ“ใ•ใ‚Œใ‚‹ใ€‚้žๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’็”Ÿใ˜ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใซใฏใ€่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟ็—‡ใ€่ก€็ฎก่…ซใซไผดใ†ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200646" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "ๆœฌ็ดฐๅˆ†้กž24ใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏๅŽŸๅ› ็–พๆ‚ฃใฎๅˆไฝต็—‡ใ€ใ‚ใ‚‹ใ„ใฏไธ€็—‡็Šถใจใ—ใฆ็™บ็—‡ใ™ใ‚‹ใ‚‚ใฎใงใ€่‡จๅบŠๅƒใฏๅ€‹ๅˆฅใฎๅŽŸๅ› ็–พๆ‚ฃใซใ‚ˆใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใฎ้™คๅค–่จบๆ–ญใซใ‚ˆใ‚‹็ดฐๅˆ†้กž23ใ€Œๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆITP๏ผ‰ใ€ใŒ่ก€ๅฐๆฟใซ้™ๅฎšใ—ใŸ่ก€็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใฎใซๅฏพใ—ใฆใ€ๆœฌ็ดฐๅˆ†้กžใฎ็–พๆ‚ฃใฏ่ก€ๅฐๆฟๆธ›ๅฐ‘ใฎใฟใชใ‚‰ใšไป–ใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚„ๅ…็–ซ็•ฐๅธธใ‚’ไผดใ„ใ€ๅ‡บ่ก€็—‡็ŠถใซๅŠ ใˆใฆๅ€‹ใ€…ใฎๅŽŸๅ› ็–พๆ‚ฃใซ็‰นๆœ‰ใชๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไบŒๆฌกๆ€งๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…๏ผˆไบŒๆฌกๆ€งITP๏ผ‰ใฏใ€ๅ…็–ซ็•ฐๅธธใ‚’ๅผ•ใ่ตทใ“ใ™ๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใ‚‹ๅ ดๅˆใซ่จบๆ–ญใ•ใ‚Œใ€ใ—ใฐใ—ใฐๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚‹่ก€ๆถฒๅ…็–ซ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅŽŸๅ› ็–พๆ‚ฃใจใ—ใฆใฏ่† ๅŽŸ็—…ใ€ๅ…็–ซไธๅ…จ็—‡ใ€ใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ใƒ”ใƒญใƒชๆ„ŸๆŸ“ใ€ใ‚ใ‚‹ใ„ใฏ้ชจ้ซ„็งปๆคๅพŒๅˆไฝต็—‡ใชใฉใŒใ‚ใ‚‹ใ€‚ๆฏๅญ้–“ใซใŠใ‘ใ‚‹่ก€ๅฐๆฟๆŠ—ๅŽŸใ‚„HLAๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹ๆฏ่ฆชใฎๅŒ็จฎๆŠ—ไฝ“ใŒ็ตŒ่ƒŽ็›ค็š„ใซๅ…ใซ็งป่กŒใ™ใ‚‹ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚„ITPๅˆไฝตๆฏไฝ“ใฎๅ‡บ็”Ÿๅ…ใงใฏไธ€้Žๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใŒ็”Ÿใ˜ใ‚‹ใ€‚ใพใŸใ€ๅฐๅ…ใซใŠใ„ใฆใฏ้žๅ…็–ซๅญฆ็š„็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใŒ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’ๅผ•ใ่ตทใ“ใ™ใ“ใจใ‚‚ใ—ใฐใ—ใฐ็ตŒ้จ“ใ•ใ‚Œใ‚‹ใ€‚้žๅ…็–ซๅญฆ็š„ๆฉŸๅบใซใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ‚’็”Ÿใ˜ใ‚‹ๅŽŸๅ› ็–พๆ‚ฃใซใฏใ€่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…ใ€ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟ็—‡ใ€่ก€็ฎก่…ซใซไผดใ†ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200646" ; + dcterms:source ; a owl:Class ; - rdfs:label "23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja, "Other thrombocytopenic purpura"@en ; + rdfs:label "23ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja, "Other thrombocytopenic purpura"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "23ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:2200647 - :hasNotificationNumber "17" ; - terms:identifier "2200647" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:2200647" ; + dcterms:source ; a owl:Class ; - rdfs:label "neonatal alloimmune thrombocytopenia"@en, "ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Neonatal alloimmune thrombocytopenia"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใฉใ†ใ—ใ‚…ใ‚ใ‚“ใˆใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "NAIT"@en, "Neonatal alloimmune thrombocytopaenia"@en ; + skos:closeMatch obo:MONDO_0019415 ; skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅŒ็จฎๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200648 - :hasNotificationNumber "17" ; - terms:identifier "2200648" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:2200648" ; + dcterms:source ; a owl:Class ; - rdfs:label "Heparin-induced thrombocytopenia"@en, "ใธใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Heparin-induced thrombocytopenia"@en, "ใธใฑใ‚Šใ‚“ใใ„ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ˜ใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018048 ; - skos:prefLabel "ใธใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . - -:2200649 - :hasNotificationNumber "18" ; - terms:description "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…(thrombotic thrombocytopenic purpura: TTP)ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็ดฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(microangiopathic hemolytic anemia:MAHA)ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่…Ž้šœๅฎณใ€็™บ็†ฑใ€ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใฎๅคๅ…ธ็š„5ๅพดๅ€™๏ผˆๆ–‡็Œฎ1๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ๅ…จ่บซใฎๅพฎๅฐ่ก€็ฎกใซ่ก€ๅฐๆฟ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚5ๅพดๅ€™ใŒใ™ในใฆๆƒใ†ใ“ใจใฏTTPใฎ็—…ๆœŸใŒ้€ฒ่กŒใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ๆœ€่ฟ‘ใงใฏไป–ใซๅŽŸๅ› ใฎใชใ„่ก€ๅฐๆฟๆธ›ๅฐ‘ใจMAHAใฎๅญ˜ๅœจใงๆœฌ็–พๆ‚ฃใ‚’็–‘ใ†ใ“ใจใŒ้‡่ฆใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผˆๆ–‡็Œฎ2,3๏ผ‰ใ€‚TTPใฎใปใจใ‚“ใฉใŒๅพŒๅคฉๆ€งใงใ‚ใ‚‹ใŒใ€ๅ…ˆๅคฉๆ€งTTP๏ผˆUpshaw-Schulman็—‡ๅ€™็พค๏ผšUSS๏ผ‰ใงใฏใ€MAHAใŒๆ˜Žใ‚‰ใ‹ใงใฏใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใฎใง่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒๆœ€ใ‚‚้‡่ฆใชๆŒ‡ๆจ™ใจใชใ‚‹ใ€‚ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏใ€ใƒ•ใ‚ฉใƒณใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆVWF๏ผ‰ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13)ๆดปๆ€ง่‘—ๆธ›ใง่จบๆ–ญใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹๏ผˆๆ–‡็Œฎ4,5๏ผ‰ใ€‚"@ja ; - terms:identifier "2200649" ; - terms:source ; - a owl:Class ; - rdfs:label "thrombotic thrombocytopenic purpura"@en, "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018896 ; + rdfs:subClassOf ; + skos:altLabel "HIT"@en, "Heparin-induced thrombocytopaenia"@en ; + skos:closeMatch obo:MONDO_0018048 ; + skos:prefLabel "ใƒ˜ใƒ‘ใƒชใƒณ่ตทๅ› ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . + + + nando:hasNotificationNumber "18" ; + dcterms:description "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…(thrombotic thrombocytopenic purpura: TTP)ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็ดฐ่ก€็ฎก้šœๅฎณๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€(microangiopathic hemolytic anemia:MAHA)ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่…Ž้šœๅฎณใ€็™บ็†ฑใ€ๅ‹•ๆบๆ€ง็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใฎๅคๅ…ธ็š„5ๅพดๅ€™๏ผˆๆ–‡็Œฎ1๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ๅ…จ่บซใฎๅพฎๅฐ่ก€็ฎกใซ่ก€ๅฐๆฟ่ก€ๆ “ใŒๅฝขๆˆใ•ใ‚Œใ‚‹ใ“ใจใง็™บ็—‡ใ™ใ‚‹ใ€‚5ๅพดๅ€™ใŒใ™ในใฆๆƒใ†ใ“ใจใฏTTPใฎ็—…ๆœŸใŒ้€ฒ่กŒใ—ใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ๆœ€่ฟ‘ใงใฏไป–ใซๅŽŸๅ› ใฎใชใ„่ก€ๅฐๆฟๆธ›ๅฐ‘ใจMAHAใฎๅญ˜ๅœจใงๆœฌ็–พๆ‚ฃใ‚’็–‘ใ†ใ“ใจใŒ้‡่ฆใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹๏ผˆๆ–‡็Œฎ2,3๏ผ‰ใ€‚TTPใฎใปใจใ‚“ใฉใŒๅพŒๅคฉๆ€งใงใ‚ใ‚‹ใŒใ€ๅ…ˆๅคฉๆ€งTTP๏ผˆUpshaw-Schulman็—‡ๅ€™็พค๏ผšUSS๏ผ‰ใงใฏใ€MAHAใŒๆ˜Žใ‚‰ใ‹ใงใฏใชใ„็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใฎใง่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒๆœ€ใ‚‚้‡่ฆใชๆŒ‡ๆจ™ใจใชใ‚‹ใ€‚ใ‚ˆใ‚Šๆœ€่ฟ‘ใงใฏใ€ใƒ•ใ‚ฉใƒณใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰ๅ› ๅญ๏ผˆVWF๏ผ‰ๅˆ‡ๆ–ญ้…ต็ด ใงใ‚ใ‚‹ADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13)ๆดปๆ€ง่‘—ๆธ›ใง่จบๆ–ญใ•ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹๏ผˆๆ–‡็Œฎ4,5๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200649" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Thrombotic thrombocytopenic purpura"@en, "ใ‘ใฃใ›ใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ—ใฏใ‚“ใณใ‚‡ใ†"@ja-Hira, "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018896 ; skos:prefLabel "่ก€ๆ “ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—…"@ja . -:2200650 - :hasNotificationNumber "15" ; - terms:description "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€ใ‚ใ‚‰ใ‚†ใ‚‹ๅŽŸๅ› ใฎ่„พ่…ซใง่ช˜็™บใ•ใ‚Œใ‚‹ไบŒๆฌก็š„ใช็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใชใฉใฎ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’ไผดใ†ใ€‚่„พ่…ซใ‚’ๆฅใ™็–พๆ‚ฃใจใ—ใฆใฏใ€ใ†ใฃ่ก€ๆ€ง่„พ่…ซใ€ๆ„ŸๆŸ“็—‡ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่“„็ฉ็—‡ใ€่„พๅšข่ƒžใชใฉใŒใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€่ก€ๅฐๆฟๆ•ฐใŒ๏ผ‘๏ผไธ‡/ฮผlๆœชๆบ€ใฎๅ ดๅˆใ€่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆ็™ฝ่ก€็—…ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉ๏ผ‰ใงใฏใ€็–พๆ‚ฃ่‡ชไฝ“ใซใ‚ˆใ‚‹้ชจ้ซ„ๆŠ‘ๅˆถไฝœ็”จใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚‚ๆฅใŸใ™ใŸใ‚ใ€ใ€Œ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ใจใ™ใ‚‹ใ“ใจใฏใ€ๆ…Ž้‡ใซๅˆคๆ–ญใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200650" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใฏใ€ใ‚ใ‚‰ใ‚†ใ‚‹ๅŽŸๅ› ใฎ่„พ่…ซใง่ช˜็™บใ•ใ‚Œใ‚‹ไบŒๆฌก็š„ใช็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใชใฉใฎ่ก€็ƒๆธ›ๅฐ‘็—‡ใ‚’ไผดใ†ใ€‚่„พ่…ซใ‚’ๆฅใ™็–พๆ‚ฃใจใ—ใฆใฏใ€ใ†ใฃ่ก€ๆ€ง่„พ่…ซใ€ๆ„ŸๆŸ“็—‡ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃใ€ๅ…ˆๅคฉๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใ€่“„็ฉ็—‡ใ€่„พๅšข่ƒžใชใฉใŒใ‚ใ‚‹ใ€‚ใ“ใฎใ†ใกใ€่ก€ๅฐๆฟๆ•ฐใŒ๏ผ‘๏ผไธ‡/ฮผlๆœชๆบ€ใฎๅ ดๅˆใ€่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€งใŠใ‚ˆใณใƒชใƒณใƒ‘ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆ็™ฝ่ก€็—…ใ€ๆ‚ชๆ€งใƒชใƒณใƒ‘่…ซใชใฉ๏ผ‰ใงใฏใ€็–พๆ‚ฃ่‡ชไฝ“ใซใ‚ˆใ‚‹้ชจ้ซ„ๆŠ‘ๅˆถไฝœ็”จใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚‚ๆฅใŸใ™ใŸใ‚ใ€ใ€Œ่„พๆฉŸ่ƒฝไบข้€ฒ็—‡ใซใ‚ˆใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ใจใ™ใ‚‹ใ“ใจใฏใ€ๆ…Ž้‡ใซๅˆคๆ–ญใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200650" ; + dcterms:source ; a owl:Class ; - rdfs:label "thrombocytopenia due to hypersplenism"@en, "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Thrombocytopenia due to hypersplenism"@en, "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200651 - :hasNotificationNumber "41" ; - terms:description "ๆœฌ็—‡ๅ€™็พคใฏใ€้€ ่ก€็ดฐ่ƒžใฎๅˆ†ๅŒ–ใƒปๅข—ๆฎ–ใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚Œใ€้ชจ้ซ„ใงใฎๅ˜ไธ€่ก€็ƒ็ณป็ตฑใชใ„ใ—ไธ‰่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœๆœซๆขข่ก€ใงใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€้€ ่ก€้šœๅฎณไปฅๅค–ใซ็‰นๅพด็š„ใชๅค–่กจๅฅ‡ๅฝขใ‚„ๆ‰€่ฆ‹ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใ€ๅคšใใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚ŒใฆใใŸใŒใ€้บไผ็š„่ƒŒๆ™ฏใŒ็–‘ใ‚ใ‚ŒใชใŒใ‚‰่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚1)ใ€€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใซใฏใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ (FA)ใ€ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡(DC)ใ€ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค (SDS)ใ€ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ (CAMT)ใ€ใƒ”ใ‚ขใ‚ฝใƒณ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€ๅ˜ไธ€็ณป็ตฑ่ก€็ƒๆธ›ๅฐ‘็—‡ใฏใ€่ตค่ก€็ƒ็ณปใงใฏใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€๏ผˆDBA๏ผ‰ใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(CDA)ใ€ๅฅฝไธญ็ƒ็ณปใงใฏๅ…ˆๅคฉๆ€ง้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ (SCN)ใ€ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ€่ก€ๅฐๆฟ็ณปใงใฏ้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซ็งป่กŒๅ‚พๅ‘ใ‚’ๆœ‰ใ™ใ‚‹ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆFPD๏ผ‰ใ€ๆ’“้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใชใฉใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200651" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใ‚ˆใ‚Š่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒใ‚ใ‚Šใ€้ชจ้ซ„ใซใฆๅทจๆ ธ็ƒใŒ่‘—ๆธ›ใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใใฎๅพŒใ€่ก€ๅฐๆฟใ€็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใฎ3็ณป็ตฑใฎ้ชจ้ซ„้€ ่ก€ไธๅ…จใŒๅพใ€…ใซ้€ฒ่กŒใ—ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใธ้€ฒ่กŒใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€thrombopoietin(TPO)ๅ—ๅฎนไฝ“ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹MPL้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎไธ€ใคใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹1-6)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200651" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital amegakaryocytic thrombocytopenia"@en, "ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Congenital amegakaryocytic thrombocytopenia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใใ‚‡ใ‹ใใใ‚…ใ†ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "CAMT"@en ; - skos:closeMatch mondo:MONDO_0011469 ; + rdfs:subClassOf ; + skos:altLabel "CAMT"@en, "Congenital amegakaryocytic thrombocytopaenia"@en ; + skos:closeMatch obo:MONDO_0011469 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200652 - :hasNotificationNumber "42" ; - terms:description "ๆœฌ็—‡ๅ€™็พคใฏใ€้€ ่ก€็ดฐ่ƒžใฎๅˆ†ๅŒ–ใƒปๅข—ๆฎ–ใŒๅ…ˆๅคฉ็š„ใซ้šœๅฎณใ•ใ‚Œใ€้ชจ้ซ„ใงใฎๅ˜ไธ€่ก€็ƒ็ณป็ตฑใชใ„ใ—ไธ‰่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœๆœซๆขข่ก€ใงใฎ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๅคšใใฎๅ ดๅˆใ€้€ ่ก€้šœๅฎณไปฅๅค–ใซ็‰นๅพด็š„ใชๅค–่กจๅฅ‡ๅฝขใ‚„ๆ‰€่ฆ‹ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใ€ๅคšใใฎ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚ŒใฆใใŸใŒใ€้บไผ็š„่ƒŒๆ™ฏใŒ็–‘ใ‚ใ‚ŒใชใŒใ‚‰่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚1)ใ€€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใซใฏใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€ (FA)ใ€ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡(DC)ใ€ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค (SDS)ใ€ๅ…ˆๅคฉๆ€ง็„กๅทจๆ ธ็ƒๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ (CAMT)ใ€ใƒ”ใ‚ขใ‚ฝใƒณ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚ใพใŸใ€ๅ˜ไธ€็ณป็ตฑ่ก€็ƒๆธ›ๅฐ‘็—‡ใฏใ€่ตค่ก€็ƒ็ณปใงใฏใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰ใƒปใƒ–ใƒฉใ‚ฏใƒ•ใ‚กใƒณ่ฒง่ก€๏ผˆDBA๏ผ‰ใ€้บไผๆ€ง้‰„่Šฝ็ƒๆ€ง่ฒง่ก€ใ€ๅ…ˆๅคฉๆ€ง่ตค่ก€็ƒ็•ฐๅฝขๆˆ่ฒง่ก€(CDA)ใ€ๅฅฝไธญ็ƒ็ณปใงใฏๅ…ˆๅคฉๆ€ง้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ (SCN)ใ€ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ€่ก€ๅฐๆฟ็ณปใงใฏ้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใซ็งป่กŒๅ‚พๅ‘ใ‚’ๆœ‰ใ™ใ‚‹ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡๏ผˆFPD๏ผ‰ใ€ๆ’“้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใชใฉใง่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200652" ; - terms:source ; - a owl:Class ; - rdfs:label "Fanconi anaemia"@en, "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Fanconi่ฒง่ก€"@ja ; + + nando:hasNotificationNumber "42" ; + dcterms:description "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€๏ผˆFA๏ผ‰ใฏๅ…ˆๅคฉ็š„ใชDNAๆๅ‚ทไฟฎๅพฉ้šœๅฎณใ‚’่ƒŒๆ™ฏใซใ€้€ฒ่กŒๆ€งใฎๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMDS๏ผ‰ใ‚„ๆ€ฅๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใธใฎ็งป่กŒใ€ๅ…ˆๅคฉ็š„ใชๅฝขๆ…‹็•ฐๅธธใ€ๆ˜“็™บใŒใ‚“ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้บไผๅญ่จบๆ–ญใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€90%ไปฅไธŠใฎๆ‚ฃ่€…ใง่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸ1)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200652" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fanconi anemia"@en, "ใตใใ‚“ใ“ใซใฒใ‚“ใ‘ใค"@ja-Hira, "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Fanconi anaemia"@en, "Fanconi่ฒง่ก€"@ja ; + skos:closeMatch obo:MONDO_0019391 ; skos:prefLabel "ใƒ•ใ‚กใƒณใ‚ณใƒ‹่ฒง่ก€"@ja . -:2200653 - :hasNotificationNumber "24" ; - terms:description "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจๆญฃๅธธ่ก€ๅฐๆฟๆ•ฐใธใฎๅ›žๅพฉใŒไธ€ๅฎšใฎๅ‘จๆœŸใง็นฐใ‚Š่ฟ”ใ•ใ‚Œใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎๅ‘จๆœŸๅฝขๆˆใฎๆฉŸๅบใจใ—ใฆใ€๏ผˆ1๏ผ‰ๅทจๆ ธ็ƒใฎ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ2๏ผ‰ๅทจๆ ธ็ƒๅ†…ใงใฎ่ก€ๅฐๆฟ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ3๏ผ‰่ก€ๅฐๆฟใฎ็ ดๅฃŠใฎๅค‰ๅ‹•ใ€ใŒๆŽจๅฏŸใ•ใ‚Œๆˆๅ› ใฎๅคšๆง˜ๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200653" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจๆญฃๅธธ่ก€ๅฐๆฟๆ•ฐใธใฎๅ›žๅพฉใŒไธ€ๅฎšใฎๅ‘จๆœŸใง็นฐใ‚Š่ฟ”ใ•ใ‚Œใ‚‹่ก€ๆถฒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎๅ‘จๆœŸๅฝขๆˆใฎๆฉŸๅบใจใ—ใฆใ€๏ผˆ1๏ผ‰ๅทจๆ ธ็ƒใฎ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ2๏ผ‰ๅทจๆ ธ็ƒๅ†…ใงใฎ่ก€ๅฐๆฟ็”ฃ็”Ÿๅค‰ๅŒ–ใ€๏ผˆ3๏ผ‰่ก€ๅฐๆฟใฎ็ ดๅฃŠใฎๅค‰ๅ‹•ใ€ใŒๆŽจๅฏŸใ•ใ‚Œๆˆๅ› ใฎๅคšๆง˜ๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200653" ; + dcterms:source ; a owl:Class ; - rdfs:label "cyclic thrombocytopenia"@en, "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Cyclic thrombocytopenia"@en, "ใ—ใ‚…ใ†ใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008556 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008556 ; skos:prefLabel "ๅ‘จๆœŸๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200654 - :hasNotificationNumber "51" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธญใงๅทจๅคง่ก€ๅฐๆฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธใ€ใ‚ปใƒใ‚นใƒใƒฃใƒณ๏ผˆSebastian๏ผ‰็—‡ๅ€™็พคใ€ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ๏ผˆFechtner๏ผ‰็—‡ๅ€™็พคใ€ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEpstein๏ผ‰็—‡ๅ€™็พคใจๅˆฅใ€…ใซๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸ้กž็ธ็–พๆ‚ฃใŒใ€ๅŒไธ€ใฎ้บไผๅญ๏ผˆMYH9้บไผๅญ๏ผ‰็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใ“ใ‚Œใ‚‰ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆœฌ็–พๆ‚ฃใŒๆๅ”ฑใ•ใ‚ŒใŸ๏ผˆใคใพใ‚Šใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธใฏใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ใซๅŒ…ๅซใ•ใ‚Œใ‚‹1็—…ๅž‹ใจใชใ‚‹๏ผ‰ใ€‚ๅŒ็พฉใงใ€MYH9็•ฐๅธธ็—‡ใจใ„ใ†็–พๆ‚ฃๅใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๅ…ทไฝ“็š„ใชๅฎš็พฉใจใ—ใฆใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€ๅทจๅคง่ก€ๅฐๆฟ็—‡ใŒใฟใ‚‰ใ‚Œใ€MYH9้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ๅ ดๅˆใซใ€ๆœฌ็–พๆ‚ฃใจ่จบๆ–ญใ™ใ‚‹ใ€‚ใใฎไป–ใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌๅƒใงใฎ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“๏ผˆใƒ‡ใƒผใƒฌๆง˜ๅฐไฝ“๏ผšDรถhle-like bodies๏ผ‰ใฎๅญ˜ๅœจใ‚„ใ€่…Ž็‚Žใ€้›ฃ่ดใ€็™ฝๅ†…้šœใจใ„ใฃใŸใ‚ขใƒซใƒใƒผใƒˆ๏ผˆAlport๏ผ‰็—‡็Šถใฏๆœฌ็–พๆ‚ฃใ‚’็คบๅ”†ใ™ใ‚‹ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚ใชใŠใ€ๅทจๅคง่ก€ๅฐๆฟใฎๆญฃๅผใชๅฎš็พฉใฏใชใ„ใŒใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌไธŠใ€ๆฆ‚ใญๆญฃๅธธ่ก€ๅฐๆฟใฎๅคงใใ•ใฎ2ๅ€็จ‹ๅบฆ๏ผˆ็›ดๅพ„4ฮผm๏ผ‰ใฎๅ ดๅˆใซๅคงๅž‹่ก€ๅฐๆฟใ€่ตค่ก€็ƒๅคง๏ผˆ็›ดๅพ„8ฮผm๏ผ‰ไปฅไธŠใฎๅ ดๅˆใซๅทจๅคง่ก€ๅฐๆฟใจๅˆคๅฎšใ™ใ‚‹ใ€‚ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—‡๏ผˆITP๏ผ‰ใงใ‚‚ๅคงๅž‹่ก€ๅฐๆฟใฏใ—ใฐใ—ใฐ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€ๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๆญฃๅธธๅคงใงใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€งๅทจๅคง่ก€ๅฐๆฟ็—‡ใงใฏๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๅคงๅž‹ใ‚ใ‚‹ใ„ใฏๅทจๅคงใงใ‚ใ‚Šใ€ๆญฃๅธธๅคง่ก€ๅฐๆฟใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ไปฅไธ‹ใซใ€ใ“ใ‚Œใพใงไฝฟ็”จใ•ใ‚ŒใฆใใŸ็–พๆ‚ฃๅใฎใใ‚Œใžใ‚Œใฎ่‡จๅบŠ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ๏ผšๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใ‚ปใƒใ‚นใƒใƒฃใƒณ็—‡ๅ€™็พค๏ผšใ‚„ใ‚„ไธๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถ๏ผˆ่…Ž็‚Žใƒป้›ฃ่ดใƒป็™ฝๅ†…้šœ๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถใ‚’่ชใ‚ใ‚‹ใŒใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฏๅŒๅฎšๅ›ฐ้›ฃ"@ja ; - terms:identifier "2200654" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใฎไธญใงๅทจๅคง่ก€ๅฐๆฟ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใงใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ๏ผˆMay-Hegglin๏ผ‰็•ฐๅธธใ€ใ‚ปใƒใ‚นใƒใƒฃใƒณ๏ผˆSebastian๏ผ‰็—‡ๅ€™็พคใ€ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ๏ผˆFechtner๏ผ‰็—‡ๅ€™็พคใ€ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ๏ผˆEpstein๏ผ‰็—‡ๅ€™็พคใจๅˆฅใ€…ใซๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸ้กž็ธ็–พๆ‚ฃใŒใ€ๅŒไธ€ใฎ้บไผๅญ๏ผˆMYH9้บไผๅญ๏ผ‰็•ฐๅธธใซ่ตทๅ› ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚Šใ€ใ“ใ‚Œใ‚‰ใ‚’ๅŒ…ๆ‹ฌใ™ใ‚‹็–พๆ‚ฃๆฆ‚ๅฟตใจใ—ใฆๆœฌ็–พๆ‚ฃใŒๆๅ”ฑใ•ใ‚ŒใŸ๏ผˆใคใพใ‚Šใ€ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธใฏใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡ใซๅŒ…ๅซใ•ใ‚Œใ‚‹1็—…ๅž‹ใจใชใ‚‹๏ผ‰ใ€‚ๅŒ็พฉใงใ€MYH9็•ฐๅธธ็—‡ใจใ„ใ†็–พๆ‚ฃๅใ‚‚ไฝฟ็”จใ•ใ‚Œใ‚‹ใ€‚ๅ…ทไฝ“็š„ใชๅฎš็พฉใจใ—ใฆใฏใ€่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใ€ๅทจๅคง่ก€ๅฐๆฟ็—‡ใŒใฟใ‚‰ใ‚Œใ€MYH9้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ๅ ดๅˆใซใ€ๆœฌ็–พๆ‚ฃใจ่จบๆ–ญใ™ใ‚‹ใ€‚ใใฎไป–ใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌๅƒใงใฎ้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“๏ผˆใƒ‡ใƒผใƒฌๆง˜ๅฐไฝ“๏ผšDรถhle-like bodies๏ผ‰ใฎๅญ˜ๅœจใ‚„ใ€่…Ž็‚Žใ€้›ฃ่ดใ€็™ฝๅ†…้šœใจใ„ใฃใŸใ‚ขใƒซใƒใƒผใƒˆ๏ผˆAlport๏ผ‰็—‡็Šถใฏๆœฌ็–พๆ‚ฃใ‚’็คบๅ”†ใ™ใ‚‹ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚ใชใŠใ€ๅทจๅคง่ก€ๅฐๆฟใฎๆญฃๅผใชๅฎš็พฉใฏใชใ„ใŒใ€ๆœซๆขข่ก€ๅก—ๆŠนๆจ™ๆœฌไธŠใ€ๆฆ‚ใญๆญฃๅธธ่ก€ๅฐๆฟใฎๅคงใใ•ใฎ2ๅ€็จ‹ๅบฆ๏ผˆ็›ดๅพ„4ฮผm๏ผ‰ใฎๅ ดๅˆใซๅคงๅž‹่ก€ๅฐๆฟใ€่ตค่ก€็ƒๅคง๏ผˆ็›ดๅพ„8ฮผm๏ผ‰ไปฅไธŠใฎๅ ดๅˆใซๅทจๅคง่ก€ๅฐๆฟใจๅˆคๅฎšใ™ใ‚‹ใ€‚ๅ…็–ซๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘ๆ€ง็ดซๆ–‘็—‡๏ผˆITP๏ผ‰ใงใ‚‚ๅคงๅž‹่ก€ๅฐๆฟใฏใ—ใฐใ—ใฐ่ฆณๅฏŸใ•ใ‚Œใ‚‹ใŒใ€ๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๆญฃๅธธๅคงใงใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€งๅทจๅคง่ก€ๅฐๆฟ็—‡ใงใฏๅคงๅคšๆ•ฐใฎ่ก€ๅฐๆฟใฏๅคงๅž‹ใ‚ใ‚‹ใ„ใฏๅทจๅคงใงใ‚ใ‚Šใ€ๆญฃๅธธๅคง่ก€ๅฐๆฟใฏใพใ‚Œใงใ‚ใ‚‹ใ€‚ไปฅไธ‹ใซใ€ใ“ใ‚Œใพใงไฝฟ็”จใ•ใ‚ŒใฆใใŸ็–พๆ‚ฃๅใฎใใ‚Œใžใ‚Œใฎ่‡จๅบŠ็š„็‰นๅพดใ‚’็คบใ™ใ€‚ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ๏ผšๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใ‚ปใƒใ‚นใƒใƒฃใƒณ็—‡ๅ€™็พค๏ผšใ‚„ใ‚„ไธๆ˜Ž็žญใช้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใ‚’่ชใ‚ใ‚‹ใƒ•ใ‚งใ‚ฏใƒˆใƒŠใƒผ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถ๏ผˆ่…Ž็‚Žใƒป้›ฃ่ดใƒป็™ฝๅ†…้šœ๏ผ‰ใ‚’่ชใ‚ใ‚‹ใ‚จใƒ—ใ‚นใ‚ฟใ‚คใƒณ็—‡ๅ€™็พค๏ผšใ‚ขใƒซใƒใƒผใƒˆ็—‡็Šถใ‚’่ชใ‚ใ‚‹ใŒใ€้ก†็ฒ’็ƒๅฐๅ…ฅไฝ“ใฏๅŒๅฎšๅ›ฐ้›ฃ"@ja ; + dcterms:identifier "NANDO:2200654" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mayโ€Hegglin anomaly"@en, "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "May-Hegglin anomaly"@en, "ใ‚ใ„ใƒปใธใใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "May-Hegglin็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0007954 ; skos:prefLabel "ใƒกใ‚คใƒปใƒ˜ใ‚ฐใƒชใƒณ็•ฐๅธธ็—‡"@ja . -:2200655 - :hasNotificationNumber "49" ; - terms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200655" ; - terms:source ; + + nando:hasNotificationNumber "49" ; + dcterms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200655" ; + dcterms:source ; a owl:Class ; - rdfs:label "essential thrombocythaemia"@en, "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡"@ja ; + rdfs:label "Essential thrombocythemia"@en, "ใปใ‚“ใŸใ„ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005029 ; + rdfs:subClassOf ; + skos:altLabel "ET"@en, "Essential thrombocythaemia"@en ; + skos:closeMatch obo:MONDO_0005029 ; skos:prefLabel "ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡"@ja . -:2200656 - :hasNotificationNumber "13" ; - terms:description "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200656" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "Bernard-Soulier็—‡ๅ€™็พค (BSS)ใฏใ€ๅ…ˆๅคฉ็š„ใซๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ—ใ€่ก€ๅฐๆฟ่†œ็ณ–่›‹็™ฝ๏ผˆGP๏ผ‰Ib/IX่ค‡ๅˆไฝ“ๆฌ ๆใซใ‚ˆใ‚‹ๅทจๅคง่ก€ๅฐๆฟๆ€งใฎ่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡ใจ่ก€ๅฐๆฟๅ‡้›†ๆฌ ๅฆ‚ใ‚’็‰นๅพดใจใ™ใ‚‹่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200656" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bernard-Soulier syndrome"@en, "ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค"@ja ; + rdfs:label "Bernard-Soulier syndrome"@en, "ในใ‚‹ใชใƒผใ‚‹ใƒปใ™ใƒผใ‚Šใˆใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Bernard-Soulier็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009276 ; + skos:closeMatch obo:MONDO_0009276 ; skos:prefLabel "ใƒ™ใƒซใƒŠใƒผใƒซใƒปใ‚นใƒผใƒชใ‚จ็—‡ๅ€™็พค"@ja . -:2200657 - :hasNotificationNumber "12" ; - terms:description "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200657" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "่ก€ๅฐๆฟ็„กๅŠ›็—‡ใฏใ€ๅ…ˆๅคฉ็š„ใซๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ—ใ€่ก€ๅฐๆฟๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ‚‚ใฎใฎ่ก€ๅฐๆฟ่†œ็ณ–่›‹็™ฝ๏ผˆGP๏ผ‰IIb/IIIaๆฌ ๆใซใ‚ˆใ‚Šใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณไพๅญ˜ๆ€งใฎ่ก€ๅฐๆฟๅ‡้›†ๆฌ ๅฆ‚ใ‚’็‰นๅพดใจใ™ใ‚‹่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200657" ; + dcterms:source ; a owl:Class ; - rdfs:label "thrombasthenia"@en, "่ก€ๅฐๆฟ็„กๅŠ›็—‡"@ja ; + rdfs:label "Thrombasthenia"@en, "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "่ก€ๅฐๆฟ็„กๅŠ›็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010119 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010119 ; skos:prefLabel "่ก€ๅฐๆฟ็„กๅŠ›็—‡"@ja . -:2200658 - :hasNotificationNumber "11" ; - terms:description "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200658" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200658" ; + dcterms:source ; a owl:Class ; - rdfs:label "Platelet secretion defects"@en, "่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡"@ja ; + rdfs:label "Platelet secretion defects"@en, "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใปใ†ใ—ใ‚…ใคใใ“ใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "่ก€ๅฐๆฟๆ”พๅ‡บๆฉŸๆง‹็•ฐๅธธ็—‡"@ja . -:2200659 - :hasNotificationNumber "14" ; - terms:description "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200659" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ไธ€ๆฌกๆญข่ก€ใงไธญๅฟƒ็š„ใชๅฝนๅ‰ฒใ‚’ๆ‹…ใ†่ก€ๅฐๆฟใŒใ€ๆ•ฐใฎไธŠใงใฏๆญข่ก€ใƒฌใƒ™ใƒซใซใ‚ใ‚‹ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่ก€ๅฐๆฟๆฉŸ่ƒฝใซ้šœๅฎณใŒใ‚ใ‚Šใ€็ฒ˜่†œใจ็šฎ่†šใฎๅ‡บ่ก€ใŒไธปไฝ“ใฎๆญข่ก€ๅ›ฐ้›ฃใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๆฅใŸใ™็–พๆ‚ฃใงใ€้บไผ็š„ๆฌ ้™ฅใซใ‚ˆใ‚‹ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใจใ€ๆง˜ใ€…ใชๅŸบ็คŽ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅพŒๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅพŒๅคฉๆ€งใซ่ก€ๅฐๆฟๆฉŸ่ƒฝใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹็–พๆ‚ฃใซใฏใ€ๅฐฟๆฏ’็—‡๏ผˆๆ…ขๆ€ง่…Žไธๅ…จ๏ผ‰ใ€่‚็–พๆ‚ฃใ€็•ฐๅธธ่›‹็™ฝ่ก€็—‡๏ผˆๅคš็™บๆ€ง้ชจ้ซ„่…ซใ€ใƒžใ‚ฏใƒญใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใชใฉ๏ผ‰ใ€่† ๅŽŸ็—…ใ€้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ๏ผˆๆ…ขๆ€ง้ชจ้ซ„ๆ€ง็™ฝ่ก€็—…ใ€็œŸๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡๏ผ‰ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฎไธญใงใฏใ€็ฒ˜็€่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹Bernard-Soulier็—‡ๅ€™็พคใ€ๆ”พๅ‡บ่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ‚นใƒˆใƒฌใƒผใ‚ธใƒ—ใƒผใƒซ็—…ใ€ๅ‡้›†่ƒฝใฎ็•ฐๅธธใงใ‚ใ‚‹่ก€ๅฐๆฟ็„กๅŠ›็—‡ใŒไปฃ่กจ็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡ใฏใ€โ‘ ่ก€ๅฐๆฟใƒฌใ‚ปใƒ—ใ‚ฟใƒผ็•ฐๅธธ็—‡ใ€โ‘กๆ”พๅ‡บ็•ฐๅธธ็—‡ใ€โ‘ขใƒ—ใƒญใ‚ณใ‚ขใ‚ฐใƒฉใƒณใƒˆๆดปๆ€ง็•ฐๅธธ็—‡ใซๅˆ†้กžใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200659" ; + dcterms:source ; a owl:Class ; - rdfs:label "33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡"@ja, "Other platelet dysfunction"@en ; + rdfs:label "32ใ‹ใ‚‰34ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใใฎใ†ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "32ใ‹ใ‚‰34ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡"@ja, "Other platelet dysfunction"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "33ใ‹ใ‚‰35ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡"@ja . + rdfs:subClassOf ; + skos:prefLabel "32ใ‹ใ‚‰34ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ก€ๅฐๆฟๆฉŸ่ƒฝ็•ฐๅธธ็—‡"@ja . -:2200660 - :hasNotificationNumber "14" ; - terms:identifier "2200660" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200660" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital thrombocytopenia with radio- ulnar synostosis"@en, "ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Congenital thrombocytopenia with radio-ulnar synostosis"@en, "ใจใ†ใ“ใคใ—ใ‚ƒใฃใ“ใคใ‚†ใ†ใ”ใ†ใ‚’ใจใ‚‚ใชใ†ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Congenital thrombocytopaenia with radio-ulnar synostosis"@en ; + skos:closeMatch obo:MONDO_0011555 ; skos:prefLabel "ๆฉˆ้ชจๅฐบ้ชจ่žๅˆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200661 - :hasNotificationNumber "14" ; - terms:identifier "2200661" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200661" ; + dcterms:source ; a owl:Class ; - rdfs:label "Thrombocytopenia with absent radii"@en, "ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Thrombocytopenia with absent radii"@en, "ใจใ†ใ“ใคใ‘ใฃใใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "TAR ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010121 ; + rdfs:subClassOf ; + skos:altLabel "TAR syndrome"@en, "TAR็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010121 ; skos:prefLabel "ๆฉˆ้ชจๆฌ ๆใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200662 - :hasNotificationNumber "14" ; - terms:identifier "2200662" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200662" ; + dcterms:source ; a owl:Class ; - rdfs:label "Familial platelet disorder with propensity to myeloid."@en, "้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Familial platelet disorder with propensity to myeloid."@en, "ใ“ใคใšใ„ใ‚ใใ›ใ„ใ—ใ‚…ใ‚ˆใ†ใ‘ใ„ใ“ใ†ใ‚’ใจใ‚‚ใชใ†ใ‹ใžใใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "FPDMM"@en, "ย Familial Platelet Disorder with Associated Myeloid Malignancy"@en ; - skos:closeMatch mondo:MONDO_0011071, mondo:MONDO_0100083 ; + rdfs:subClassOf ; + skos:altLabel "FPDMM"@en, "Familial platelet disorder with propensity to myeloid malignancy"@en ; + skos:closeMatch obo:MONDO_0100083 ; skos:prefLabel "้ชจ้ซ„ๆ‚ชๆ€ง่…ซ็˜ๅ‚พๅ‘ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200663 - :hasNotificationNumber "14" ; - terms:identifier "2200663" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200663" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autosomal dominant thrombocytopenia, thrombocytopenia 2"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Autosomal dominant thrombocytopenia 2"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "THC2 "@en ; - skos:closeMatch mondo:MONDO_0008555 ; + rdfs:subClassOf ; + skos:altLabel "THC2"@en, "Thrombocytopenia 2"@en ; + skos:closeMatch obo:MONDO_0008555 ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง่ก€ๅฐๆฟๆธ›ๅฐ‘็—‡"@ja . -:2200664 - :hasNotificationNumber "14" ; - terms:identifier "2200664" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200664" ; + dcterms:source ; a owl:Class ; rdfs:label "GPIIb/IIIa็•ฐๅธธ็—‡"@ja, "ITGA2B/ITGB3 mutations"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GPIIb/IIIa mutations"@en ; + skos:closeMatch obo:MONDO_0010119 ; skos:prefLabel "GPIIb/IIIa็•ฐๅธธ็—‡"@ja . -:2200665 - :hasNotificationNumber "14" ; - terms:identifier "2200665" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200665" ; + dcterms:source ; a owl:Class ; - rdfs:label "ACTN1 mutations"@en, "ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "ACTN1 mutations"@en, "ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡"@ja, "ใ‚ใ‚‹ใตใใ‚ใใกใซใ‚“1ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ฮฑ-actinin-1็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0014078 ; skos:prefLabel "ฮฑใ‚ขใ‚ฏใƒใƒ‹ใƒณ1็•ฐๅธธ็—‡"@ja . -:2200666 - :hasNotificationNumber "14" ; - terms:identifier "2200666" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200666" ; + dcterms:source ; a owl:Class ; - rdfs:label "Paris-Trousseau/Jacobsen็—‡ๅ€™็พค"@ja, "Paris-trousseau/Jacobsen syndrome"@en ; + rdfs:label "Paris-Trousseau/Jacobsen็—‡ๅ€™็พค"@ja, "Paris-trousseau/Jacobsen syndrome"@en, "ใฑใ‚Šใจใ‚‹ใใƒผ/ใ‚„ใ“ใถใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "Paris-Trousseau/Jacobsen็—‡ๅ€™็พค"@ja . -:2200667 - :hasNotificationNumber "14" ; - terms:identifier "2200667" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200667" ; + dcterms:source ; a owl:Class ; - rdfs:label "platelet dysfunction"@en, "ฮฒ1 tubulin ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "ฮฒ-1 tubulin disorders"@en, "ฮฒ1 tubulin ็•ฐๅธธ็—‡"@ja, "ในใƒผใŸ1ใกใ‚…ใƒผใถใ‚Šใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Beta-1 tubulin disorders"@en, "ฮฒ1-ใƒใƒฅใƒผใƒ–ใƒชใƒณ้บไผๅญ็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0013141 ; skos:prefLabel "ฮฒ1 tubulin ็•ฐๅธธ็—‡"@ja . -:2200668 - :hasNotificationNumber "14" ; - terms:identifier "2200668" ; - terms:source ; - a owl:Class ; - rdfs:label "platenet-type von willebrand disease"@en, "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja . - -:2200669 - :hasNotificationNumber "14" ; - terms:identifier "2200669" ; - terms:source ; - a owl:Class ; - rdfs:label "ADP receptor deficiencies"@en, "ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200668" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Platelet-type von Willebrand disease"@en, "ใ‘ใฃใ—ใ‚‡ใ†ใฐใ‚“ใŒใŸใตใ‰ใ‚“ใƒปใณใ‚‹ใถใ‚‰ใ‚“ใฉใณใ‚‡ใ†"@ja-Hira, "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Pseudo VWD"@en, "Pseudo von willebrand disease"@en, "่ก€ๅฐๆฟๅž‹VWD"@ja, "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใƒปใƒ“ใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja ; + skos:closeMatch obo:MONDO_0008332 ; + skos:prefLabel "่ก€ๅฐๆฟๅž‹ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200669" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ADP receptor deficiencies"@en, "ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja, "ใˆใƒผใงใƒใƒผใดใƒผใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012354 ; skos:prefLabel "ADPๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja . -:2200670 - :hasNotificationNumber "14" ; - terms:identifier "2200670" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200670" ; + dcterms:source ; a owl:Class ; - rdfs:label "Abnormalities in platelet collagen receptors"@en, "ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "GPVI deficiency "@en, "GPVIๆฌ ๆ็—‡"@ja ; + rdfs:label "Abnormalities in platelet collagen receptors"@en, "ใ“ใ‚‰ใƒผใ’ใ‚“ใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GPVI deficiency"@en, "GPVIๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0013623 ; skos:prefLabel "ใ‚ณใƒฉใƒผใ‚ฒใƒณๅ—ๅฎนไฝ“็•ฐๅธธ็—‡"@ja . -:2200671 - :hasNotificationNumber "14" ; - terms:identifier "2200671" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2200671" ; + dcterms:source ; a owl:Class ; - rdfs:label "Scott syndrome"@en, "ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:label "Scott syndrome"@en, "ใ™ใ“ใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009885 ; + rdfs:subClassOf ; + skos:altLabel "Scott็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009885 ; skos:prefLabel "ใ‚นใ‚ณใƒƒใƒˆ็—‡ๅ€™็พค"@ja . -:2200672 - :hasNotificationNumber "31" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200672" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200672" ; + dcterms:source ; a owl:Class ; - rdfs:label "afibrinogenaemia"@en, "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡"@ja ; + rdfs:label "Afibrinogenemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใƒใถใ‚Šใฎใƒผใ’ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Afibrinogenaemia"@en, "Congenital afibrinogenaemia"@en, "Congenital afibrinogenemia"@en, "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008737 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ•ใ‚ฃใƒ–ใƒชใƒŽใƒผใ‚ฒใƒณๆฌ ไน็—‡"@ja . -:2200673 - :hasNotificationNumber "32" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200673" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200673" ; + dcterms:source ; a owl:Class ; - rdfs:label "hypoprothrombinaemia"@en, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja ; + rdfs:label "Hypoprothrombinemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Congenital hypoprothrombinaemia"@en, "Congenital hypoprothrombinemia"@en, "Hypoprothrombinaemia"@en ; + skos:closeMatch obo:MONDO_0013361 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja . -:2200674 - :hasNotificationNumber "33" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200674" ; - terms:source ; - a owl:Class ; - rdfs:label "factor V deficiency"@en, "็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009210, mondo:MONDO_0020586 ; - skos:prefLabel "็ฌฌโ…คๅ› ๅญๆฌ ไน็—‡"@ja . - -:2200675 - :hasNotificationNumber "34" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200675" ; - terms:source ; - a owl:Class ; - rdfs:label "factor VII deficiency"@en, "็ฌฌโ…ฆๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002244, mondo:MONDO_0009211 ; - skos:prefLabel "็ฌฌโ…ฆๅ› ๅญๆฌ ไน็—‡"@ja . - -:2200676 - :hasNotificationNumber "29" ; - terms:description "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200676" ; - terms:source ; - a owl:Class ; - rdfs:label "haemophilia A"@en, "่ก€ๅ‹็—…๏ผก"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010602 ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200674" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Factor V deficiency"@en, "ใ ใ„5ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฌฌVๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020586 ; + skos:prefLabel "็ฌฌVๅ› ๅญๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "34" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200675" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Factor VII deficiency"@en, "ใ ใ„7ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฌฌVIIๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002244 ; + skos:prefLabel "็ฌฌVIIๅ› ๅญๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "29" ; + dcterms:description "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200676" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hemophilia A"@en, "ใ‘ใคใ‚†ใ†ใณใ‚‡ใ†ใˆใƒผ"@ja-Hira, "่ก€ๅ‹็—…๏ผก"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Factor VIII deficiency"@en, "Haemophilia A"@en, "็ฌฌVIIIๅ› ๅญๆฌ ไน็—‡"@ja ; + skos:closeMatch obo:MONDO_0010602 ; skos:prefLabel "่ก€ๅ‹็—…๏ผก"@ja . -:2200677 - :hasNotificationNumber "30" ; - terms:description "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200677" ; - terms:source ; - a owl:Class ; - rdfs:label "haemophilia B"@en, "่ก€ๅ‹็—…๏ผข"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "30" ; + dcterms:description "่ก€ๅ‹็—…ใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌVIIIๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…Aใจใ€็ฌฌIXๅ› ๅญใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธ็—‡ใงใ‚ใ‚‹่ก€ๅ‹็—…BใจใŒใ‚ใ‚‹ใ€‚X้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ๅ…ˆๅคฉๆ€งๅ‡ๅ›บ้šœๅฎณ็—‡ใงใ‚ใ‚Šใ€ๅ‡บ่ก€็—‡็ŠถใŒๅนผๅฐ‘ๆ™‚ใ‹ใ‚‰ๅๅพฉใ™ใ‚‹ใ€‚ๆ‚ฃ่€…ใฏ้€šๅธธ็”ทๆ€งใงใ€ๅฅณๆ€งใฏไฟๅ› ่€…ใจใชใ‚‹ใ€‚ๅฅณๆ€ง่ก€ๅ‹็—…ใฏๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใ€‚ๅญค็™บไพ‹ใ‚‚็ด„30%ใซ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญ้บไผๅญใฏXๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๅ‹็—…Aใงใฏๆฌ ๅคฑใ‚„็‚นๅค‰็•ฐใ€ๆŒฟๅ…ฅใ€้€†ไฝใชใฉๅคšๅฒใซใ‚ใŸใ‚‹ใŒใ€ใ‚คใƒณใƒˆใƒญใƒณ22ใฎ้€†ไฝใฏ้‡็—‡ๅž‹ใฎ็ด„40%ใซใฟใ‚‰ใ‚Œใ‚‹ใ€‚ไธ€ๆ–นใ€่ก€ๅ‹็—…Bใฏ็‚นๅค‰็•ฐใŒๅคšใ„ใ€‚็ฌฌVIIIๅ› ๅญใจ็ฌฌIXๅ› ๅญใฏ่ก€ๆถฒๅ‡ๅ›บๅๅฟœใซใŠใ‘ใ‚‹็ฌฌXๅ› ๅญใฎๆดปๆ€งๅŒ–ใซๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚ๅพ“ใฃใฆๆœฌ็—‡ใฏใ€็ฌฌVIIIๅ› ๅญใพใŸใฏ็ฌฌIXๅ› ๅญใŒๆฌ ไนใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็ฌฌXๅ› ๅญๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ—ใ€ใƒˆใƒญใƒณใƒ“ใƒณ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่‘—ๆ˜Žใชๅ‡บ่ก€ๅ‚พๅ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200677" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hemophilia B"@en, "ใ‘ใคใ‚†ใ†ใณใ‚‡ใ†ใณใƒผ"@ja-Hira, "่ก€ๅ‹็—…๏ผข"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Factor IX deficiency"@en, "Haemophilia B"@en, "็ฌฌIXๅ› ๅญๆฌ ไน็—‡"@ja ; + skos:closeMatch obo:MONDO_0010604 ; skos:prefLabel "่ก€ๅ‹็—…๏ผข"@ja . -:2200678 - :hasNotificationNumber "35" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200678" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200678" ; + dcterms:source ; a owl:Class ; - rdfs:label "factor X deficiency"@en, "็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002247, mondo:MONDO_0009212 ; + rdfs:label "Factor X deficiency"@en, "ใ ใ„10ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002247 ; skos:prefLabel "็ฌฌโ…ฉๅ› ๅญๆฌ ไน็—‡"@ja . -:2200679 - :hasNotificationNumber "36" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200679" ; - terms:source ; - a owl:Class ; - rdfs:label "factor XI deficiency"@en, "็ฌฌโ…ชๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012897, mondo:MONDO_0020587 ; - skos:prefLabel "็ฌฌโ…ชๅ› ๅญๆฌ ไน็—‡"@ja . - -:2200680 - :hasNotificationNumber "37" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200680" ; - terms:source ; - a owl:Class ; - rdfs:label "factor XII deficiency"@en, "็ฌฌโ…ซๅ› ๅญๆฌ ไน็—‡"@ja ; + + nando:hasNotificationNumber "36" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200679" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Factor XI deficiency"@en, "ใ ใ„11ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฌฌXIๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020587 ; + skos:prefLabel "็ฌฌXIๅ› ๅญๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "37" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200680" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Factor XII deficiency"@en, "ใ ใ„12ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฌฌXIIๅ› ๅญๆฌ ไน็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009315 ; - skos:prefLabel "็ฌฌโ…ซๅ› ๅญๆฌ ไน็—‡"@ja . - -:2200681 - :hasNotificationNumber "38" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200681" ; - terms:source ; - a owl:Class ; - rdfs:label "factor XIII deficiency"@en, "็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0002241, mondo:MONDO_0018029 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009315 ; + skos:prefLabel "็ฌฌXIIๅ› ๅญๆฌ ไน็—‡"@ja . + + + nando:hasNotificationNumber "38" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200681" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Factor XIII deficiency"@en, "ใ ใ„13ใ„ใ‚“ใ—ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002241, obo:MONDO_0018029 ; skos:prefLabel "็ฌฌXIIIๅ› ๅญๆฌ ไน็—‡"@ja . -:2200682 - :hasNotificationNumber "39" ; - terms:description "von Willebrand็—…๏ผˆVWD๏ผ‰ใฏvon Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใ‚’ๆฅใ™้บไผๆ€งๅ‡บ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚von Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฏๅˆ†ๅญ้‡็ด„500๏ฝ‹Da-20,000kDaใซๅŠใถใƒžใƒซใƒใƒžใƒผๆง‹้€ ใ‚’ๅฝขๆˆใ™ใ‚‹้ซ˜ๅˆ†ๅญ้‡ใฎ็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚Šใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ‚„้ชจ้ซ„ๅทจๆ ธ็ƒใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚VWFใฏ่ก€็ฎกๆๅ‚ท้ƒจไฝใซใŠใ„ใฆ่ก€ๅฐๆฟใ‚’ๅ†…็šฎไธ‹็ตๅˆ็ต„็น”ใธ็ฒ˜็€ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚’ๆœ‰ใ—ใ€ไธ€ๆฌกๆญข่ก€ใซใŠใ„ใฆๆฅตใ‚ใฆ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚VWFใฏๅคงๅฐๆง˜ใ€…ใชใƒžใƒซใƒใƒžใƒผใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใŒใ€้ซ˜ๅˆ†ๅญ้‡ใฎใƒžใƒซใƒใƒžใƒผใปใฉๆญข่ก€่ƒฝใŒ้ซ˜ใ„ใ€‚ใพใŸVWFใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌโ…งๅ› ๅญ๏ผˆFVIII๏ผ‰ใจ็ตๅˆใ—่ก€ๆผฟไธญใฎFVIIIใ‚’ๅฎ‰ๅฎšๅŒ–ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚‚ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็—‡ใงใฏไบŒๆฌก็š„ใซFVIIIใ‚‚ไฝŽไธ‹ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฎ็—…ๅ› ใƒป็—…ๆ…‹ใฏๅคšๆง˜ใงใ€้‡็š„ๆธ›ๅฐ‘็—‡ใฎ1ๅž‹ใ€่ณช็š„็•ฐๅธธ็—‡ใฎ2ๅž‹ใ€ๅฎŒๅ…จๆฌ ๆ็—‡ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€2ๅž‹ใซใฏๆ›ดใซ2Aใ€2Bใ€2Mใ€2Nใฎ4ไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็š„็—…ๆ…‹ใฏVWFใฎ็•ฐๅธธใซๅŸบใฅใ่ก€ๅฐๆฟ็ฒ˜็€ใŠใ‚ˆใณๅ‡้›†้šœๅฎณใจFVIIIไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200682" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "von Willebrand็—…๏ผˆVWD๏ผ‰ใฏvon Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฎ้‡็š„ใƒป่ณช็š„็•ฐๅธธใ‚’ๆฅใ™้บไผๆ€งๅ‡บ่ก€ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚von Willebrandๅ› ๅญ๏ผˆVWF๏ผ‰ใฏๅˆ†ๅญ้‡็ด„500๏ฝ‹Da-20,000kDaใซๅŠใถใƒžใƒซใƒใƒžใƒผๆง‹้€ ใ‚’ๅฝขๆˆใ™ใ‚‹้ซ˜ๅˆ†ๅญ้‡ใฎ็ณ–่›‹็™ฝ่ณชใงใ‚ใ‚Šใ€่ก€็ฎกๅ†…็šฎ็ดฐ่ƒžใ‚„้ชจ้ซ„ๅทจๆ ธ็ƒใ‹ใ‚‰็”ฃ็”Ÿใ•ใ‚Œใ‚‹ใ€‚VWFใฏ่ก€็ฎกๆๅ‚ท้ƒจไฝใซใŠใ„ใฆ่ก€ๅฐๆฟใ‚’ๅ†…็šฎไธ‹็ตๅˆ็ต„็น”ใธ็ฒ˜็€ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚’ๆœ‰ใ—ใ€ไธ€ๆฌกๆญข่ก€ใซใŠใ„ใฆๆฅตใ‚ใฆ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚VWFใฏๅคงๅฐๆง˜ใ€…ใชใƒžใƒซใƒใƒžใƒผใจใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใŒใ€้ซ˜ๅˆ†ๅญ้‡ใฎใƒžใƒซใƒใƒžใƒผใปใฉๆญข่ก€่ƒฝใŒ้ซ˜ใ„ใ€‚ใพใŸVWFใฏ่ก€ๆถฒๅ‡ๅ›บ็ฌฌโ…งๅ› ๅญ๏ผˆFVIII๏ผ‰ใจ็ตๅˆใ—่ก€ๆผฟไธญใฎFVIIIใ‚’ๅฎ‰ๅฎšๅŒ–ใ•ใ›ใ‚‹ๆฉŸ่ƒฝใ‚‚ๆœ‰ใ™ใ‚‹ใŸใ‚ใ€ๆœฌ็—‡ใงใฏไบŒๆฌก็š„ใซFVIIIใ‚‚ไฝŽไธ‹ใ™ใ‚‹ใ€‚ๆœฌ็—‡ใฎ็—…ๅ› ใƒป็—…ๆ…‹ใฏๅคšๆง˜ใงใ€้‡็š„ๆธ›ๅฐ‘็—‡ใฎ1ๅž‹ใ€่ณช็š„็•ฐๅธธ็—‡ใฎ2ๅž‹ใ€ๅฎŒๅ…จๆฌ ๆ็—‡ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ€2ๅž‹ใซใฏๆ›ดใซ2Aใ€2Bใ€2Mใ€2Nใฎ4ไบœๅž‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅŸบๆœฌ็š„็—…ๆ…‹ใฏVWFใฎ็•ฐๅธธใซๅŸบใฅใ่ก€ๅฐๆฟ็ฒ˜็€ใŠใ‚ˆใณๅ‡้›†้šœๅฎณใจFVIIIไฝŽไธ‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200682" ; + dcterms:source ; a owl:Class ; - rdfs:label "Von Willebrand disease"@en, "ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Von Willebrand disease"@en, "ใตใ‰ใ‚“ใ†ใƒใ‚‹ใถใ‚‰ใ‚“ใฉใณใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "VWD"@en, "von Willebrand็—…"@ja ; - skos:closeMatch mondo:MONDO_0019565, mondo:MONDO_0024574 ; + skos:closeMatch obo:MONDO_0024574 ; skos:prefLabel "ใƒ•ใ‚ฉใƒณใ‚ฆใ‚ฃใƒซใƒ–ใƒฉใƒณใƒ‰็—…"@ja . -:2200683 - :hasNotificationNumber "40" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200683" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏใใ‚Œใžใ‚Œใฎ่ก€ๆถฒๅ‡ๅ›บๅ› ๅญๆดปๆ€งใŒๅ…ˆๅคฉ็š„ใซๆฌ ไนใ—ใฆใ„ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚่ก€ๆผฟไธญใฎๅ‡ๅ›บๅ› ๅญๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใฎ้–ขไฟ‚ใ‹ใ‚‰ใ€ๆŠ—ๅŽŸ้‡ใจๆดปๆ€งใŒใจใ‚‚ใซๆฌ ๅฆ‚ใ—ใŸType 1ใจใ€ๆŠ—ๅŽŸ้‡ใฏๆญฃๅธธ้‡ๅญ˜ๅœจใ™ใ‚‹ใŒๆดปๆ€งใฎๆฌ ๅฆ‚ใ—ใŸType 2ใฎไบŒใคใซๅˆ†้กžใ•ใ‚Œใ€Type 1ใฏๅ‡ๅ›บๅ› ๅญๆฌ ไน็—‡ใ€type 2ใฏๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚่ก€ๅ‹็—…ไปฅๅค–ใฎๅ…ˆๅคฉๆ€งๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ็—‡ใฏ่ก€ๅ‹็—…้กž็ธ็–พๆ‚ฃใจ็ท็งฐใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็–พๆ‚ฃใŒๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใŒใ€ใƒ•ใ‚ฃใƒ–ใƒชใƒŽใ‚ฒใƒณ็•ฐๅธธ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200683" ; + dcterms:source ; a owl:Class ; - rdfs:label "37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ"@ja, "Other inherited bleeding disorder"@en ; + rdfs:label "36ใ‹ใ‚‰46ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‘ใคใˆใใŽใ‚‡ใ†ใ“ใ„ใ‚“ใ—ใ„ใ˜ใ‚‡ใ†"@ja-Hira, "36ใ‹ใ‚‰46ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ"@ja, "Other inherited bleeding disorder"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "37ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ"@ja . + rdfs:subClassOf ; + skos:prefLabel "36ใ‹ใ‚‰46ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ก€ๆถฒๅ‡ๅ›บๅ› ๅญ็•ฐๅธธ"@ja . -:2200684 - :hasNotificationNumber "40" ; - terms:identifier "2200684" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2200684" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital prekallikrein deficiency"@en, "ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡"@ja ; + rdfs:label "Congenital prekallikrein deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚Œใ‹ใ‚Šใใ‚Œใ„ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "prekallikrein deficiency"@en ; - skos:closeMatch mondo:MONDO_0012901, mondo:MONDO_0044744 ; + rdfs:subClassOf ; + skos:altLabel "Prekallikrein deficiency"@en ; + skos:closeMatch obo:MONDO_0012901, obo:MONDO_0044744 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒฌใ‚ซใƒชใ‚ฏใƒฌใ‚คใƒณๆฌ ไน็—‡"@ja . -:2200685 - :hasNotificationNumber "40" ; - terms:identifier "2200685" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2200685" ; + dcterms:source ; a owl:Class ; - rdfs:label "High molecular weightย kininogen deficiency"@en, "ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡"@ja ; + rdfs:label "High molecular weight kininogen deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใถใ‚“ใ—ใใซใฎใ’ใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "congenital high molecular weightย kininogen deficiency"@en ; - skos:closeMatch mondo:MONDO_0009234 ; + rdfs:subClassOf ; + skos:altLabel "Congenital high molecular weight kininogen deficiency"@en ; + skos:closeMatch obo:MONDO_0009234 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ซ˜ๅˆ†ๅญใ‚ญใƒ‹ใƒŽใ‚ฒใƒณๆฌ ไน็—‡"@ja . -:2200686 - :hasNotificationNumber "40" ; - terms:identifier "2200686" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2200686" ; + dcterms:source ; a owl:Class ; - rdfs:label "Combined deficiency of coagulation factors V and VIII"@en, "ๅ…ˆๅคฉๆ€ง็ฌฌV+VIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡"@ja ; + rdfs:label "Combined deficiency of coagulation factors V and VIII"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„5ใŠใ‚ˆใณ8ใ„ใ‚“ใ—ใŒใฃใบใ„ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็ฌฌVใŠใ‚ˆใณVIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ๅ…ˆๅคฉๆ€ง็ฌฌV+VIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡"@ja . + rdfs:subClassOf ; + skos:altLabel "F5F8D"@en ; + skos:closeMatch obo:MONDO_0018175 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง็ฌฌVใŠใ‚ˆใณVIIIๅ› ๅญๅˆไฝตๆฌ ไน็—‡"@ja . -:2200687 - :hasNotificationNumber "40" ; - terms:identifier "2200687" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2200687" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alpha-2-plasmin inhibitor deficiency"@en, "ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡"@ja ; + rdfs:label "Alpha-2-plasmin inhibitor deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚‹ใตใ2ใทใ‚‰ใ™ใฟใ‚“ใ„ใ‚“ใฒใณใŸใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009883 ; + rdfs:subClassOf ; + skos:altLabel "Congenital alpha 2-plasmin inhibitor deficiency"@en ; + skos:closeMatch obo:MONDO_0009883 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งฮฑ2-ใƒ—ใƒฉใ‚นใƒŸใƒณใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ไน็—‡"@ja . -:2200688 - :hasNotificationNumber "40" ; - terms:identifier "2200688" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2200688" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital Plasminogen Activator Inhibitor-1 Deficiency"@en, "ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡"@ja ; + rdfs:label "Congenital plasminogen activator inhibitor-1 deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚‰ใ™ใฟใฎใ’ใ‚“ใ‚ใใกในใƒผใŸใ„ใ‚“ใฒใณใŸใƒผ1ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Plasminogen Activator Inhibitor-1 Deficiency "@en ; - skos:closeMatch mondo:MONDO_0013227 ; + rdfs:subClassOf ; + skos:altLabel "PAI-1 deficiency"@en, "PAI-1ๆฌ ๆ็—‡"@ja, "Plasminogen activator inhibitor-1 deficiency"@en, "ๅ…ˆๅคฉๆ€งPAI-1ๆฌ ไน็—‡"@ja ; + skos:closeMatch obo:MONDO_0013227 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒฉใ‚นใƒŸใƒŽใ‚ฒใƒณใ‚ขใ‚ฏใƒใƒ™ใƒผใ‚ฟใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผ1ๆฌ ไน็—‡"@ja . -:2200689 - :hasNotificationNumber "44" ; - terms:description "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚"@ja ; - terms:identifier "2200689" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:description "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200689" ; + dcterms:source ; a owl:Class ; - rdfs:label "protein C deficiency"@en, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡"@ja ; + rdfs:label "Protein C deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใ—ใƒผใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "heritable thrombophilia"@en ; - skos:closeMatch mondo:MONDO_0019145 ; + rdfs:subClassOf ; + skos:altLabel "Congenital protein C deficiency"@en, "Heritable thrombophilia"@en ; + skos:closeMatch obo:MONDO_0019145 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณCๆฌ ไน็—‡"@ja . -:2200690 - :hasNotificationNumber "45" ; - terms:description "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚"@ja ; - terms:identifier "2200690" ; - terms:source ; - a owl:Class ; - rdfs:label "protein S deficiency"@en, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "heritable thrombophilia"@en ; - skos:closeMatch mondo:MONDO_0002304 ; + + nando:hasNotificationNumber "45" ; + dcterms:description "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200690" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Protein S deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใทใ‚ใฆใ„ใ‚“ใˆใ™ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Heritable thrombophilia"@en ; + skos:closeMatch obo:MONDO_0002304 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ—ใƒญใƒ†ใ‚คใƒณSๆฌ ไน็—‡"@ja . -:2200691 - :hasNotificationNumber "28" ; - terms:description "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚"@ja ; - terms:identifier "2200691" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ๅฐๅ…ใฎ่ก€ๆ “็—‡ใฏ่ฟ‘ๅนดๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€ๆ–ฐ็”Ÿๅ…ๆœŸใƒปๆ—ฉๆœŸไนณๅ…ๆœŸใจๆ€ๆ˜ฅๆœŸใซๅคšใ„[1]ใ€‚็‰น็™บๆ€งใจ่จบๆ–ญใ•ใ‚Œใ‚‹ๆ—ฅๆœฌไบบใฎไธปใช้บไผๆ€ง่ก€ๆ “็—‡ใฏใ€ใƒ—ใƒญใƒ†ใ‚คใƒณS (PS)ใ€ใƒ—ใƒญใƒ†ใ‚คใƒณC๏ผˆPC๏ผ‰ใŠใ‚ˆใณใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณ๏ผˆAT๏ผ‰ๆฌ ๆ็—‡ใงใ‚ใ‚‹ใ€‚ใ„ใšใ‚Œใ‚‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ€ๅ„้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐไฟๆœ‰่€…ใฏๆ€ๆ˜ฅๆœŸใซๆทฑ้ƒจ้™่„ˆ่ก€ๆ “็—‡ใ‚’ใ€ใƒ›ใƒขใŠใ‚ˆใณ่ค‡ๅˆใธใƒ†ใƒญๆŽฅๅˆใฎ้‡็—‡ๅž‹ใฏๆ–ฐ็”Ÿๅ…ใซ่„ณๆข—ๅกžใƒปๅ‡บ่ก€ใ€ใ‹ใคใพใŸใฏ้›ปๆ’ƒๆ€ง็ดซๆ–‘็—…ใ‚’ใŠใ“ใ™[2]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200691" ; + dcterms:source ; a owl:Class ; - rdfs:label "antithrombin deficiency"@en, "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "heritable thrombophilia"@en ; + rdfs:label "Antithrombin deficiency"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใกใจใ‚ใ‚“ใณใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Heritable thrombophilia"@en ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ขใƒณใƒใƒˆใƒญใƒณใƒ“ใƒณๆฌ ไน็—‡"@ja . -:2200692 - :hasNotificationNumber "19" ; - terms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200692" ; - terms:source ; - a owl:Class ; - rdfs:label "myelofibrosis"@en, "้ชจ้ซ„็ทš็ถญ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009692, mondo:MONDO_0044903 ; + + nando:hasNotificationNumber "19" ; + dcterms:description "้ชจ้ซ„ๅข—ๆฎ–ๆ€ง็–พๆ‚ฃ (Myeloproliferative disorder (MPD) / myeloproliferative neoplasm (MPN) ใฏ้€ ่ก€ๅนน็ดฐ่ƒžใƒฌใƒ™ใƒซใฎใ‚ฏใƒญใƒผใƒŠใƒซใชๅข—ๆฎ–ใซ่ตทๅ› ใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€็จ€ใช็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ใพใŸ้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พค๏ผˆMyelodysplastic syndrome, MDS๏ผ‰ใจใฎ็•ฐๅŒใŒๆณจ็›ฎใ•ใ‚Œใ€MDS/MPN็–พๆ‚ฃ็พคใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹MPNใงใฏCMLใ‚„JMMLใŒๆœ‰ๅใงใ‚ใ‚‹ใŒใ€ใพใ‚Œใซ็œŸๆ€งๅคš่ก€็—‡๏ผˆpolycythemia vera, PV๏ผ‰ใ€ๅฎถๆ—ๆ€ง่ตค่ก€็ƒๅข—ๅŠ ็—‡( familiar polycythemia)ใ€ๆœฌๆ…‹ๆ€ง่ก€ๅฐๆฟ่ก€็—‡(essential thrombocytosis, ET)ใ€้ชจ้ซ„็ทš็ถญ็—‡๏ผˆMyelofibrosis, MF๏ผ‰ใ€ๅฅฝ้…ธ็ƒๅข—ๅคš็—‡๏ผˆhypereosinophilic syndrome, HES๏ผ‰ใ€่‚ฅๆบ€็ดฐ่ƒž็—‡๏ผˆmastocytosis, MS๏ผ‰ใชใฉใŒๅญ˜ๅœจใ—ใ€ใใฎ็™บ็—‡้ ปๅบฆใจๅˆ†ๅญ็—…ๆ…‹ใฏไธๆ˜Žใชใพใพใงใ‚ใ‚‹ใ€‚ใพใŸใ“ใ‚Œไปฅๅค–ใซๅพ“ๆฅใฎๅˆ†้กžใงใฏๅฏพๅฟœใงใใชใ„ๆœชๅˆ†้กžใฎMDS/MPNใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200692" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Myelofibrosis"@en, "ใ“ใคใšใ„ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "้ชจ้ซ„็ทš็ถญ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MF"@en ; + skos:closeMatch obo:MONDO_0044903 ; skos:prefLabel "้ชจ้ซ„็ทš็ถญ็—‡"@ja . -:2200693 - :hasNotificationNumber "20" ; - terms:description "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆๅ†ไธ่ฒง๏ผ‰ใฏใ€้ชจ้ซ„ใงใฎ3่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœใ€ๆœซๆขข่ก€ใงใฎ็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใŠใ‚ˆใณ่ก€ๅฐๆฟๆ•ฐใฎใ™ในใฆใŒๆธ›ๅฐ‘ใ™ใ‚‹๏ผˆๆฑŽ่ก€็ƒๆธ›ๅฐ‘๏ผ‰1ใคใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่จบๆ–ญใซใ‚ใŸใฃใฆใฏใ€้ชจ้ซ„ๆจ™ๆœฌใงๅ„่ก€็ƒๆˆๅˆ†ใซๅฝขๆ…‹็•ฐๅธธใ‚’่ชใ‚ใชใ„ใ“ใจใ€็™ฝ่ก€็—…็ดฐ่ƒžใชใฉใฎ่…ซ็˜ๆ€ง่ก€็ƒใฎๅ‡บ็พใ‚’่ชใ‚ใชใ„ใ“ใจใ€็ทš็ถญๆˆๅˆ†ใฎๅข—ๅŠ ใ‚’่ชใ‚ใชใ„ใ“ใจใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใชใ„ใ“ใจใ€่‚‰่Šฝ่…ซใ‚„ๅ›บๅฝข่…ซ็˜ใฎ้ชจ้ซ„่ปข็งปใชใฉใฎๅ ๆ‹ ๆ€ง็—…ๅค‰ใ‚’่ชใ‚ใชใ„ใ“ใจใชใฉใŒๅฟ…่ฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฎŸ้š›ใซๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใฏๅคšๆ•ฐๅญ˜ๅœจใ™ใ‚‹ใฎใงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹ไป–ใฎ็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ†ไธ่ฒงใจ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚"@ja ; - terms:identifier "2200693" ; - terms:source ; - a owl:Class ; - rdfs:label "aplastic anaemia"@en, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "20" ; + dcterms:description "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€๏ผˆๅ†ไธ่ฒง๏ผ‰ใฏใ€้ชจ้ซ„ใงใฎ3่ก€็ƒ็ณป็ตฑ๏ผˆ็™ฝ่ก€็ƒ็ณปใ€่ตค่ก€็ƒ็ณปใŠใ‚ˆใณ่ก€ๅฐๆฟ็ณป๏ผ‰ใฎ็”ฃ็”ŸใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ็ตๆžœใ€ๆœซๆขข่ก€ใงใฎ็™ฝ่ก€็ƒใ€่ตค่ก€็ƒใŠใ‚ˆใณ่ก€ๅฐๆฟๆ•ฐใฎใ™ในใฆใŒๆธ›ๅฐ‘ใ™ใ‚‹๏ผˆๆฑŽ่ก€็ƒๆธ›ๅฐ‘๏ผ‰1ใคใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่จบๆ–ญใซใ‚ใŸใฃใฆใฏใ€้ชจ้ซ„ๆจ™ๆœฌใงๅ„่ก€็ƒๆˆๅˆ†ใซๅฝขๆ…‹็•ฐๅธธใ‚’่ชใ‚ใชใ„ใ“ใจใ€็™ฝ่ก€็—…็ดฐ่ƒžใชใฉใฎ่…ซ็˜ๆ€ง่ก€็ƒใฎๅ‡บ็พใ‚’่ชใ‚ใชใ„ใ“ใจใ€็ทš็ถญๆˆๅˆ†ใฎๅข—ๅŠ ใ‚’่ชใ‚ใชใ„ใ“ใจใ€ๅฃŠๆญปๅทฃใ‚’่ชใ‚ใชใ„ใ“ใจใ€่‚‰่Šฝ่…ซใ‚„ๅ›บๅฝข่…ซ็˜ใฎ้ชจ้ซ„่ปข็งปใชใฉใฎๅ ๆ‹ ๆ€ง็—…ๅค‰ใ‚’่ชใ‚ใชใ„ใ“ใจใชใฉใŒๅฟ…่ฆใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฎŸ้š›ใซๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹็–พๆ‚ฃใฏๅคšๆ•ฐๅญ˜ๅœจใ™ใ‚‹ใฎใงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใŒใฟใ‚‰ใ‚Œใ‚‹ไป–ใฎ็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ใ“ใจใซใ‚ˆใฃใฆๅˆใ‚ใฆๅ†ไธ่ฒงใจ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200693" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aplastic anemia"@en, "ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0015909 ; skos:prefLabel "ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . -:2200694 - :hasNotificationNumber "30" ; - terms:description "X-SCIDใฏX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚1966ๅนดใซRosen ใ‚‰ใŒๅ ฑๅ‘Šใ—ใŸ3ๅฎถ็ณปใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šฮณ้Ž–ใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€Tใƒชใƒณใƒ‘็ƒใ€NK็ดฐ่ƒžๆ•ฐใฏๆฌ ๆใพใŸใฏ่‘—ๆธ›ใ—(<300/ul)ใ€B็ดฐ่ƒžๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200694" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "X-SCIDใฏX้€ฃ้Ž–ๆ€งๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚1966ๅนดใซRosen ใ‚‰ใŒๅ ฑๅ‘Šใ—ใŸ3ๅฎถ็ณปใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚ๅ…ฑ้€šฮณ้Ž–ใฎๅค‰็•ฐใซใ‚ˆใ‚Šใ€Tใƒชใƒณใƒ‘็ƒใ€NK็ดฐ่ƒžๆ•ฐใฏๆฌ ๆใพใŸใฏ่‘—ๆธ›ใ—(<300/ul)ใ€B็ดฐ่ƒžๆ•ฐใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200694" ; + dcterms:source ; a owl:Class ; - rdfs:label "X-linked severe combined immunodeficiency"@en, "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "X-linked severe combined immunodeficiency"@en, "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "X-SCID"@en ; - skos:closeMatch mondo:MONDO_0010315 ; + skos:closeMatch obo:MONDO_0010315 ; skos:prefLabel "X้€ฃ้Ž–้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja . -:2200695 - :hasNotificationNumber "32" ; - terms:description "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ใฏๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ใใฎไธ€้ƒจใฎๆ‚ฃ่€…ใฏAK2ๆฌ ๆ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚1959ๅนดใซDe Vaalใ‚‰ใฎใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚ŒใŸๅŒ่ƒŽๅ…ใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใƒฌใƒ™ใƒซใงใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ไธ€ๆ–นใ€่ตค่Šฝ็ƒใ‚„ๅทจๆ ธ็ƒใฎๅˆ†ๅŒ–ใฏใปใผๆญฃๅธธใซไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚่ก€ๆถฒๅนน็ดฐ่ƒžใใฎใ‚‚ใฎใฎ็•ฐๅธธใงใฏใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200695" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡ใฏๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚ใใฎไธ€้ƒจใฎๆ‚ฃ่€…ใฏAK2ๆฌ ๆ็—‡ใงๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚1959ๅนดใซDe Vaalใ‚‰ใฎใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚ŒใŸๅŒ่ƒŽๅ…ใŒๆœ€ๅˆใฎๅ ฑๅ‘Šใงใ‚ใ‚‹ใ€‚้ชจ้ซ„ใƒฌใƒ™ใƒซใงใƒชใƒณใƒ‘็ƒใƒป้ก†็ฒ’็ƒใฎๅˆ†ๅŒ–ใŒๆŠ‘ๅˆถใ•ใ‚Œใฆใ„ใ‚‹ไธ€ๆ–นใ€่ตค่Šฝ็ƒใ‚„ๅทจๆ ธ็ƒใฎๅˆ†ๅŒ–ใฏใปใผๆญฃๅธธใซไฟใŸใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎใŸใ‚่ก€ๆถฒๅนน็ดฐ่ƒžใใฎใ‚‚ใฎใฎ็•ฐๅธธใงใฏใชใ„ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200695" ; + dcterms:source ; a owl:Class ; - rdfs:label "reticular dysgenesis"@en, "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009973 ; + rdfs:label "Reticular dysgenesis"@en, "ใ•ใ„ใ‚‚ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009973 ; skos:prefLabel "็ดฐ็ถฒ็•ฐๅฝขๆˆ็—‡"@ja . -:2200696 - :hasNotificationNumber "29" ; - terms:description "ADAๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ ธ้…ธไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1972ๅนดใซGiblettใ‚‰ใŒ่ตค่ก€็ƒใฎADAๆดปๆ€งใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ‚’่กŒใ„ๅถ็„ถใซADAๆฌ ๆ็—‡ใจๅ…็–ซไธๅ…จ็—‡ใฎ้–ข้€ฃใ‚’็™บ่ฆ‹ใ—ใŸใ€‚ADA้…ต็ด ๆฌ ๆใ‚ˆใ‚‹ๅ…จ่บซใฎไปฃ่ฌ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆใฎๅฝฑ้Ÿฟใฏ็‰นใซๆœช็†Ÿใชใƒชใƒณใƒ‘็ƒใซๅฏพใ—ใ€้€ฒ่กŒๆ€งใซ็ดฐ่ƒžๆฏ’ใจใ—ใฆไฝœ็”จใ™ใ‚‹ใŸใ‚ใ€ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200696" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:description "ADAๆฌ ๆ็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ ธ้…ธไปฃ่ฌ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1972ๅนดใซGiblettใ‚‰ใŒ่ตค่ก€็ƒใฎADAๆดปๆ€งใฎใ‚นใ‚ฏใƒชใƒผใƒ‹ใƒณใ‚ฐใ‚’่กŒใ„ๅถ็„ถใซADAๆฌ ๆ็—‡ใจๅ…็–ซไธๅ…จ็—‡ใฎ้–ข้€ฃใ‚’็™บ่ฆ‹ใ—ใŸใ€‚ADA้…ต็ด ๆฌ ๆใ‚ˆใ‚‹ๅ…จ่บซใฎไปฃ่ฌ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆใฎๅฝฑ้Ÿฟใฏ็‰นใซๆœช็†Ÿใชใƒชใƒณใƒ‘็ƒใซๅฏพใ—ใ€้€ฒ่กŒๆ€งใซ็ดฐ่ƒžๆฏ’ใจใ—ใฆไฝœ็”จใ™ใ‚‹ใŸใ‚ใ€ไธปใช็—‡็Šถใฏๅ…็–ซๅญฆ็š„ใช็•ฐๅธธใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200696" ; + dcterms:source ; a owl:Class ; - rdfs:label "adenosine deaminase deficiency"@en, "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Adenosine deaminase deficiency"@en, "ใ‚ใงใฎใ—ใ‚“ใงใ‚ใฟใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "ADA deficiency"@en, "ADAๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0007064 ; + skos:closeMatch obo:MONDO_0007064 ; skos:prefLabel "ใ‚ขใƒ‡ใƒŽใ‚ทใƒณใƒ‡ใ‚ขใƒŸใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200697 - :hasNotificationNumber "31" ; - terms:description "1965ๅนดใซOmennใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŒๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็ถฒๅ†…็ณปใŠใ‚ˆใณ็šฎ่†šใฎ็ดฐ่ƒžๆตธๆฝคใจๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็พๅœจใฏ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ„ใใคใ‹ใฎ็–พๆ‚ฃ่ฒฌไปป้บไผๅญ็”ฃ็‰ฉใฎๆดปๆ€งใŒๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹๏ผˆhypomorphic๏ผ‰ๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹๏ผŒ"@ja ; - terms:identifier "2200697" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "1965ๅนดใซOmennใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŒๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸใซ็ถฒๅ†…็ณปใŠใ‚ˆใณ็šฎ่†šใฎ็ดฐ่ƒžๆตธๆฝคใจๅฅฝ้…ธ็ƒๅข—ๅคšใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ็พๅœจใฏ่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ„ใใคใ‹ใฎ็–พๆ‚ฃ่ฒฌไปป้บไผๅญ็”ฃ็‰ฉใฎๆดปๆ€งใŒๆฎ‹ๅญ˜ใ—ใฆใ„ใ‚‹๏ผˆhypomorphic๏ผ‰ๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹๏ผŒ"@ja ; + dcterms:identifier "NANDO:2200697" ; + dcterms:source ; a owl:Class ; - rdfs:label "Omenn syndrome"@en, "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Omenn syndrome"@en, "ใŠใƒผใ‚ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Omenn็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0011338 ; + skos:closeMatch obo:MONDO_0011338 ; skos:prefLabel "ใ‚ชใƒผใƒกใƒณ็—‡ๅ€™็พค"@ja . -:2200698 - :hasNotificationNumber "35" ; - terms:description "PNPๆฌ ๆ็—‡ใฏ้žๅธธใซ็จ€ใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ๅŒๆง˜ใ€ๆ ธ้…ธไปฃ่ฌ็ตŒ่ทฏ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1975ๅนดใซGiblettใ‚‰ใฏADAๆฌ ๆ็—‡ใซ็ถšใใ€PNPๆฌ ๆ็—‡ใ‚‚ๅ…็–ซไธๅ…จใ‚’ๆƒน่ตทใ™ใ‚‹ใ“ใจใ‚’่ฆ‹ใ„ใ ใ—ใŸใ€‚่“„็ฉใ•ใ‚Œใ‚‹ไปฃ่ฌๆฏ’ๆ€ง็”ฃ็‰ฉใฎใŸใ‚ใ€ๅ…็–ซ็ณปใชใฉใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ใ‚ˆใ‚Šใ‚‚ไธ€่ˆฌใซๅ…็–ซไธๅ…จใฎ็จ‹ๅบฆใฏ่ปฝๅบฆใงๅคšๆง˜ๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200698" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "PNPๆฌ ๆ็—‡ใฏ้žๅธธใซ็จ€ใชๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅŽŸ็™บๆ€ง่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ๅŒๆง˜ใ€ๆ ธ้…ธไปฃ่ฌ็ตŒ่ทฏ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉๆ€งไปฃ่ฌ็–พๆ‚ฃใจใ„ใ†ไธ€้ขใ‚‚ๆŒใคใ€‚1975ๅนดใซGiblettใ‚‰ใฏADAๆฌ ๆ็—‡ใซ็ถšใใ€PNPๆฌ ๆ็—‡ใ‚‚ๅ…็–ซไธๅ…จใ‚’ๆƒน่ตทใ™ใ‚‹ใ“ใจใ‚’่ฆ‹ใ„ใ ใ—ใŸใ€‚่“„็ฉใ•ใ‚Œใ‚‹ไปฃ่ฌๆฏ’ๆ€ง็”ฃ็‰ฉใฎใŸใ‚ใ€ๅ…็–ซ็ณปใชใฉใŒ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€ADAๆฌ ๆ็—‡ใ‚ˆใ‚Šใ‚‚ไธ€่ˆฌใซๅ…็–ซไธๅ…จใฎ็จ‹ๅบฆใฏ่ปฝๅบฆใงๅคšๆง˜ๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200698" ; + dcterms:source ; a owl:Class ; - rdfs:label "purine nucleoside phosphorylase deficiency"@en, "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013171 ; + rdfs:label "Purine nucleoside phosphorylase deficiency"@en, "ใทใ‚Šใ‚“ใฌใใ‚ŒใŠใ—ใฉใปใ™ใปใ‚Šใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013171 ; skos:prefLabel "ใƒ—ใƒชใƒณใƒŒใ‚ฏใƒฌใ‚ชใ‚ทใƒ‰ใƒ›ใ‚นใƒ›ใƒชใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200699 - :hasNotificationNumber "34" ; - terms:description "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒCD๏ผ˜ใฎๆฌ ๅคฑใซใ‚ˆใ‚Š็ดฐ่ƒž้šœๅฎณๆ€งT็ดฐ่ƒžใฎๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ™๏ผŽ2001ๅนดใซใ‚นใƒšใ‚คใƒณใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒ CD8A้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸ๏ผŽ"@ja ; - terms:identifier "2200699" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:description "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒCD๏ผ˜ใฎๆฌ ๅคฑใซใ‚ˆใ‚Š็ดฐ่ƒž้šœๅฎณๆ€งT็ดฐ่ƒžใฎๆดปๆ€งๅŒ–้šœๅฎณใ‚’ใใŸใ™๏ผŽ2001ๅนดใซใ‚นใƒšใ‚คใƒณใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒ CD8A้บไผๅญใฎๅค‰็•ฐใŒๅŒๅฎšใ•ใ‚ŒใŸ๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200699" ; + dcterms:source ; a owl:Class ; - rdfs:label "CD8 deficiency"@en, "CD8ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "CD8 deficiency"@en, "CD8ๆฌ ๆ็—‡"@ja, "ใ—ใƒผใงใƒใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012161 ; skos:prefLabel "CD8ๆฌ ๆ็—‡"@ja . -:2200700 - :hasNotificationNumber "33" ; - terms:description "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒT็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใŠใ‚ˆใณCD8้™ฝๆ€งT็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š๏ผŒ้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ1989ๅนดใซใ‚ซใƒŠใƒ€ใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒZAP70้บไผๅญใฎๅค‰็•ฐใŒ็ขบ่ชใ•ใ‚ŒใŸ๏ผŽ"@ja ; - terms:identifier "2200700" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎไธ€็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒT็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใŠใ‚ˆใณCD8้™ฝๆ€งT็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Š๏ผŒ้‡็—‡่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹๏ผŽ1989ๅนดใซใ‚ซใƒŠใƒ€ใ‹ใ‚‰ๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒZAP70้บไผๅญใฎๅค‰็•ฐใŒ็ขบ่ชใ•ใ‚ŒใŸ๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200700" ; + dcterms:source ; a owl:Class ; - rdfs:label "ZAP-70 deficiency"@en, "ZAP-70ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010023 ; + rdfs:label "ZAP-70 deficiency"@en, "ZAP-70ๆฌ ๆ็—‡"@ja, "ใ–ใฃใท70ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010023 ; skos:prefLabel "ZAP-70ๆฌ ๆ็—‡"@ja . -:2200701 - :hasNotificationNumber "36" ; - terms:description "MHCใ‚ฏใƒฉใ‚นI (HLA class I)ใฏๅ…จใฆใฎๆœ‰ๆ ธ็ดฐ่ƒžใฎ่กจ้ขใซ็™บ็พใ—ใ€ใ‚ฆใ‚ฃใƒซใ‚นใชใฉใฎๆŠ—ๅŽŸใƒšใƒ—ใƒใƒ‰ใ‚’CD8้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅƒใใ‚’ใ™ใ‚‹ใ€‚MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ใฏใ“ใฎๅˆ†ๅญใฎ็™บ็พใŒไฝŽไธ‹ใ™ใ‚‹็–พๆ‚ฃใงใ€Bare lymphocyte syndrome type Iใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200701" ; - terms:source ; - a owl:Class ; - rdfs:label "MHCใ‚ฏใƒฉใ‚นโ… ๆฌ ๆ็—‡"@ja, "major histocompatibility complex class I deficiency"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "MHCใ‚ฏใƒฉใ‚นโ… ๆฌ ๆ็—‡"@ja . - -:2200702 - :hasNotificationNumber "37" ; - terms:description "MHCใ‚ฏใƒฉใ‚นIIใฏๅ˜็ƒใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใ€ๆจน็Šถ็ดฐ่ƒžใ€B็ดฐ่ƒžใชใฉใฎๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใ€่ƒธ่…บไธŠ็šฎ็ดฐ่ƒžใซๆ’ๅธธ็š„ใซ็™บ็พใ—ใ€ๅค–ๆฅๆŠ—ๅŽŸ็”ฑๆฅใƒšใƒ—ใƒใƒ‰ใ‚’CD4้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ใฏ1978ๅนดใซๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆŠ—ๅŽŸๆ็คบใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚็ฒๅพ—ๅ…็–ซใŒ่ช˜ๅฐŽใ•ใ‚Œใšใ€ๆถฒๆ€งใƒป็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ€‚Bare lymphocte syndrome type IIใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200702" ; - terms:source ; - a owl:Class ; - rdfs:label "MHCใ‚ฏใƒฉใ‚นโ…กๆฌ ๆ็—‡"@ja, "major histocompatibility complex class II deficiency"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "MHCใ‚ฏใƒฉใ‚นโ…กๆฌ ๆ็—‡"@ja . - -:2200703 - :hasNotificationNumber "38" ; - terms:description "่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆCID๏ผ‰ใฏT็ดฐ่ƒž็ณปใ€B็ดฐ่ƒž็ณปใฎไธก่€…ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ๅˆไฝตใ—ใŸ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚B็ดฐ่ƒžใซ็•ฐๅธธใŒใชใใฆใ‚‚ใ€B็ดฐ่ƒžใฎๆˆ็†Ÿใซใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใŒๅฟ…่ฆใชใŸใ‚ใ€ใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใฎ้šœๅฎณใฏ็ตๆžœใจใ—ใฆCIDใ‚’็คบใ™ใ€‚2014ๅนดใฎIUISๅ…็–ซไธๅ…จ็—‡ๅˆ†้กžใงใฏใ€CIDใจใ—ใฆ41็–พๆ‚ฃใ€ใใฎไธญใซ14ใฎ้‡็—‡่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆSCID๏ผ‰ใŒๅซใพใ‚Œใ€ใพใŸ็‰นๅพด็š„ใช็—‡็Šถใ‚’ใจใ‚‚ใชใ†CIDใจใ—ใฆ37็–พๆ‚ฃใŒๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200703" ; - terms:source ; - a owl:Class ; - rdfs:label "1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja, "Other combined immunodeficiencies"@en ; + + nando:hasNotificationNumber "36" ; + dcterms:description "MHCใ‚ฏใƒฉใ‚นI (HLA class I)ใฏๅ…จใฆใฎๆœ‰ๆ ธ็ดฐ่ƒžใฎ่กจ้ขใซ็™บ็พใ—ใ€ใ‚ฆใ‚ฃใƒซใ‚นใชใฉใฎๆŠ—ๅŽŸใƒšใƒ—ใƒใƒ‰ใ‚’CD8้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅƒใใ‚’ใ™ใ‚‹ใ€‚MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡ใฏใ“ใฎๅˆ†ๅญใฎ็™บ็พใŒไฝŽไธ‹ใ™ใ‚‹็–พๆ‚ฃใงใ€Bare lymphocyte syndrome type Iใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200701" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MHC class I deficiency"@en, "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡"@ja, "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Major histocompatibility complex class I deficiency"@en ; + skos:closeMatch obo:MONDO_0011476 ; + skos:prefLabel "MHCใ‚ฏใƒฉใ‚นIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "37" ; + dcterms:description "MHCใ‚ฏใƒฉใ‚นIIใฏๅ˜็ƒใ€ใƒžใ‚ฏใƒญใƒ•ใ‚กใƒผใ‚ธใ€ๆจน็Šถ็ดฐ่ƒžใ€B็ดฐ่ƒžใชใฉใฎๆŠ—ๅŽŸๆ็คบ็ดฐ่ƒžใ€่ƒธ่…บไธŠ็šฎ็ดฐ่ƒžใซๆ’ๅธธ็š„ใซ็™บ็พใ—ใ€ๅค–ๆฅๆŠ—ๅŽŸ็”ฑๆฅใƒšใƒ—ใƒใƒ‰ใ‚’CD4้™ฝๆ€งT็ดฐ่ƒžใซๆ็คบใ™ใ‚‹ๅฝนๅ‰ฒใ‚’ๆžœใŸใ™ใ€‚MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡ใฏ1978ๅนดใซๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ๆŠ—ๅŽŸๆ็คบใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚็ฒๅพ—ๅ…็–ซใŒ่ช˜ๅฐŽใ•ใ‚Œใšใ€ๆถฒๆ€งใƒป็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จ็—‡ใ‚’ๆฅใ™ใ€‚Bare lymphocte syndrome type IIใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200702" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MHC class II deficiency"@en, "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡"@ja, "ใˆใ‚€ใˆใ„ใกใ—ใƒผใใ‚‰ใ™2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Major histocompatibility complex class II deficiency"@en ; + skos:closeMatch obo:MONDO_0008855 ; + skos:prefLabel "MHCใ‚ฏใƒฉใ‚นIIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "38" ; + dcterms:description "่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆCID๏ผ‰ใฏT็ดฐ่ƒž็ณปใ€B็ดฐ่ƒž็ณปใฎไธก่€…ใฎๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ๅˆไฝตใ—ใŸ็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚B็ดฐ่ƒžใซ็•ฐๅธธใŒใชใใฆใ‚‚ใ€B็ดฐ่ƒžใฎๆˆ็†Ÿใซใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใŒๅฟ…่ฆใชใŸใ‚ใ€ใƒ˜ใƒซใƒ‘ใƒผT็ดฐ่ƒžใฎ้šœๅฎณใฏ็ตๆžœใจใ—ใฆCIDใ‚’็คบใ™ใ€‚2014ๅนดใฎIUISๅ…็–ซไธๅ…จ็—‡ๅˆ†้กžใงใฏใ€CIDใจใ—ใฆ41็–พๆ‚ฃใ€ใใฎไธญใซ14ใฎ้‡็—‡่ค‡ๅˆๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆSCID๏ผ‰ใŒๅซใพใ‚Œใ€ใพใŸ็‰นๅพด็š„ใช็—‡็Šถใ‚’ใจใ‚‚ใชใ†CIDใจใ—ใฆ37็–พๆ‚ฃใŒๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200703" ; + dcterms:source ; + a owl:Class ; + rdfs:label "1ใ‹ใ‚‰9ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใตใใ”ใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja, "Other combined immunodeficiencies"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "combined immunodeficiencies"@en ; + rdfs:subClassOf ; + skos:altLabel "Combined immunodeficiencies"@en ; skos:prefLabel "1ใ‹ใ‚‰9ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่ค‡ๅˆๅ…็–ซไธๅ…จ็—‡"@ja . -:2200704 - :hasNotificationNumber "46" ; - terms:description "Wiskott-Aldrich็—‡ๅ€™็พค๏ผˆไปฅไธ‹WASใจ็•ฅ๏ผ‰ใฏใ€ใ‚ตใ‚คใ‚บใฎๆธ›ๅฐ‘ใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆนฟ็–นใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’3ไธปๅพดใจใ—ใ€ไธปใซ็”ทๅ…ใซ็™บ็—‡ใ™ใ‚‹XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200704" ; - terms:source ; + + nando:hasNotificationNumber "46" ; + dcterms:description "Wiskott-Aldrich็—‡ๅ€™็พค๏ผˆไปฅไธ‹WASใจ็•ฅ๏ผ‰ใฏใ€ใ‚ตใ‚คใ‚บใฎๆธ›ๅฐ‘ใ‚’ไผดใ†่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€ๆนฟ็–นใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’3ไธปๅพดใจใ—ใ€ไธปใซ็”ทๅ…ใซ็™บ็—‡ใ™ใ‚‹XๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200704" ; + dcterms:source ; a owl:Class ; - rdfs:label "Wiskott-Aldrich syndrome"@en, "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Wiskott-Aldrich syndrome"@en, "ใ†ใƒใ™ใ“ใฃใจใƒปใŠใ‚‹ใฉใ‚Šใฃใกใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Wiskott-Aldrich็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010518 ; + skos:closeMatch obo:MONDO_0010518 ; skos:prefLabel "ใ‚ฆใ‚ฃใ‚นใ‚ณใƒƒใƒˆใƒปใ‚ชใƒซใƒ‰ใƒชใƒƒใƒ็—‡ๅ€™็พค"@ja . -:2200705 - :hasNotificationNumber "55" ; - terms:description "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡(Ataxia Telangiectasiaใ€ไปฅไธ‹ATใจ็•ฅ)ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้‹ๅ‹•ๅคฑ่ชฟใจๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200705" ; - terms:source ; + + nando:hasNotificationNumber "55" ; + dcterms:description "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡(Ataxia Telangiectasiaใ€ไปฅไธ‹ATใจ็•ฅ)ใฏใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚Šใ€้‹ๅ‹•ๅคฑ่ชฟใจๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตใ€็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200705" ; + dcterms:source ; a owl:Class ; - rdfs:label "ataxia telangiectasia"@en, "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008840 ; + rdfs:label "Ataxia telangiectasia"@en, "ใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ›ใ„ใ†ใ‚“ใฉใ†ใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008840 ; skos:prefLabel "ๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผตๆ€ง้‹ๅ‹•ๅคฑ่ชฟ็—‡"@ja . -:2200706 - :hasNotificationNumber "52" ; - terms:description "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200706" ; - terms:source ; + + nando:hasNotificationNumber "52" ; + dcterms:description "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200706" ; + dcterms:source ; a owl:Class ; - rdfs:label "Nijmegen breakage syndrome"@en, "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Nijmegen breakage syndrome"@en, "ใชใ„ใฟใƒผใธใ‚“ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใตใ‚ใ‚“ใฆใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "NijmegenๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009623 ; + skos:closeMatch obo:MONDO_0009623 ; skos:prefLabel "ใƒŠใ‚คใƒŸใƒผใƒ˜ใƒณๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎš็—‡ๅ€™็พค"@ja . -:2200707 - :hasNotificationNumber "54" ; - terms:description "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200707" ; - terms:source ; + + nando:hasNotificationNumber "54" ; + dcterms:description "ๆŸ“่‰ฒไฝ“ไธๅฎ‰ๅฎšๆ€งใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200707" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bloom syndrome"@en, "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Bloom syndrome"@en, "ใถใ‚‹ใƒผใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Bloom็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008876 ; + skos:closeMatch obo:MONDO_0008876 ; skos:prefLabel "ใƒ–ใƒซใƒผใƒ ็—‡ๅ€™็พค"@ja . -:2200708 - :hasNotificationNumber "45" ; - terms:description "DNAใƒกใƒใƒซๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200708" ; - terms:source ; + + nando:hasNotificationNumber "45" ; + dcterms:description "DNAใƒกใƒใƒซๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200708" ; + dcterms:source ; a owl:Class ; - rdfs:label "ICF syndrome"@en, "ICF็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000133 ; + rdfs:label "ICF syndrome"@en, "ICF็—‡ๅ€™็พค"@ja, "ใ‚ใ„ใ—ใƒผใˆใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000133 ; skos:prefLabel "ICF็—‡ๅ€™็พค"@ja . -:2200709 - :hasNotificationNumber "53" ; - terms:description "DNAใƒŸใ‚นใƒžใƒƒใƒไฟฎๅพฉใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200709" ; - terms:source ; + + nando:hasNotificationNumber "53" ; + dcterms:description "DNAใƒŸใ‚นใƒžใƒƒใƒไฟฎๅพฉใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200709" ; + dcterms:source ; a owl:Class ; - rdfs:label "PMS2 deficiency"@en, "PMS2็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "PMS2 deficiency"@en, "PMS2็•ฐๅธธ็—‡"@ja, "ใดใƒผใˆใ‚€ใˆใ™2ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "PMS2็•ฐๅธธ็—‡"@ja . -:2200710 - :hasNotificationNumber "56" ; - terms:description "่›‹็™ฝใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200710" ; - terms:source ; - a owl:Class ; - rdfs:label "RIDDLE syndrome"@en, "RIDDLE็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012764 ; + + nando:hasNotificationNumber "56" ; + dcterms:description "่›‹็™ฝใƒฆใƒ“ใ‚ญใƒใƒณๅŒ–็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจๆ”พๅฐ„็ทšๆ„Ÿๅ—ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚Šใ€ๆ‚ชๆ€ง่…ซ็˜ๅˆไฝต็Ž‡ใŒๅคšใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200710" ; + dcterms:source ; + a owl:Class ; + rdfs:label "RIDDLE syndrome"@en, "RIDDLE็—‡ๅ€™็พค"@ja, "ใ‚Šใฉใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Radiosensitivity, immunodeficiency dysmorphic features and learning difficulties syndrome"@en ; + skos:closeMatch obo:MONDO_0012764 ; skos:prefLabel "RIDDLE็—‡ๅ€™็พค"@ja . -:2200711 - :hasNotificationNumber "50" ; - terms:description "ๆŸ“่‰ฒไฝ“ใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจ้€ ่ก€ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200711" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "ๆŸ“่‰ฒไฝ“ใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐ็•ฐๅธธใ‚’ๅŸบ็›คใจใ—ใŸ็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใจ้€ ่ก€ไธๅ…จใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200711" ; + dcterms:source ; a owl:Class ; - rdfs:label "Schimke syndrome"@en, "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Schimke syndrome"@en, "ใ—ใ‚€ใ‘ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Schimke็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009458 ; + skos:closeMatch obo:MONDO_0009458 ; skos:prefLabel "ใ‚ทใƒ ใ‚ฑ็—‡ๅ€™็พค"@ja . -:2200712 - :hasNotificationNumber "48" ; - terms:description "ๆŸ“่‰ฒไฝ“22q11.2 ใฎๅพฎ็ดฐๆฌ ๅคฑใ‚’ๅŸบ็›คใจใ—ใฆใ€่ƒธ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ่ก€็ฎก็ณป็•ฐๅธธใ€ๅ‰ฏ็”ฒ็Šถ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€็‰นๅพด็š„ใชๅฃ่“‹้ก”่ฒŒ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200712" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:description "ๆŸ“่‰ฒไฝ“22q11.2 ใฎๅพฎ็ดฐๆฌ ๅคฑใ‚’ๅŸบ็›คใจใ—ใฆใ€่ƒธ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹็ดฐ่ƒžๆ€งๅ…็–ซไธๅ…จใ€ๅ…ˆๅคฉๆ€งๅฟƒ่ก€็ฎก็ณป็•ฐๅธธใ€ๅ‰ฏ็”ฒ็Šถ่…บไฝŽๅฝขๆˆใซใ‚ˆใ‚‹ไฝŽใ‚ซใƒซใ‚ทใ‚ฆใƒ ่ก€็—‡ใ€็‰นๅพด็š„ใชๅฃ่“‹้ก”่ฒŒ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200712" ; + dcterms:source ; a owl:Class ; - rdfs:label "thymus hypoplasia"@en, "่ƒธ่…บไฝŽๅฝขๆˆ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Thymus hypoplasia"@en, "ใใ‚‡ใ†ใ›ใ‚“ใฆใ„ใ‘ใ„ใ›ใ„"@ja-Hira, "่ƒธ่…บไฝŽๅฝขๆˆ"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "22q11.2 deletion syndrome"@en, "22q11.2ๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "DiGeorge syndrome"@en, "ใƒ‡ใ‚ฃใƒปใ‚ธใƒงใƒผใ‚ธ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008564, mondo:MONDO_0018923 ; + skos:closeMatch obo:MONDO_0008564, obo:MONDO_0008644, obo:MONDO_0018923 ; skos:prefLabel "่ƒธ่…บไฝŽๅฝขๆˆ"@ja . -:2200713 - :hasNotificationNumber "49" ; - terms:description "้ซ˜IgE็—‡ๅ€™็พคใฏใ€้ป„่‰ฒใƒ–ใƒ‰ใ‚ฆ็ƒ่Œใ‚’ไธญๅฟƒใจใ™ใ‚‹็ดฐ่ƒžๅค–ๅฏ„็”Ÿ็ดฐ่Œใซใ‚ˆใ‚‹็šฎ่†š่†ฟ็˜ใจ่‚บ็‚Žใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€่ก€ๆธ…IgEใฎ้ซ˜ๅ€คใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200713" ; - terms:source ; + + nando:hasNotificationNumber "49" ; + dcterms:description "้ซ˜IgE็—‡ๅ€™็พคใฏใ€้ป„่‰ฒใƒ–ใƒ‰ใ‚ฆ็ƒ่Œใ‚’ไธญๅฟƒใจใ™ใ‚‹็ดฐ่ƒžๅค–ๅฏ„็”Ÿ็ดฐ่Œใซใ‚ˆใ‚‹็šฎ่†š่†ฟ็˜ใจ่‚บ็‚Žใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ขใƒˆใƒ”ใƒผๆ€ง็šฎ่†š็‚Žใ€่ก€ๆธ…IgEใฎ้ซ˜ๅ€คใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200713" ; + dcterms:source ; a owl:Class ; - rdfs:label "hyper-IgE syndrome"@en, "้ซ˜IgE็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018037 ; + rdfs:label "Hyper-IgE syndrome"@en, "ใ“ใ†ใ‚ใ„ใ˜ใƒผใ„ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ซ˜IgE็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018037 ; skos:prefLabel "้ซ˜IgE็—‡ๅ€™็พค"@ja . -:2200714 - :hasNotificationNumber "47" ; - terms:description "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–ใจ่‚่„พ่…ซใŠใ‚ˆใณไบŒๆฌก็š„ใช่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200714" ; - terms:source ; - a owl:Class ; - rdfs:label "hepatic venoocclusive immunodeficiency"@en, "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009338 ; + + nando:hasNotificationNumber "47" ; + dcterms:description "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–ใจ่‚่„พ่…ซใŠใ‚ˆใณไบŒๆฌก็š„ใช่ก€ๅฐๆฟๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200714" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatic veno-occlusive disease with immunodeficiency"@en, "ใ‹ใ‚“ใกใ‚…ใ†ใ—ใ‚“ใ˜ใ‚‡ใ†ใฟใ‚ƒใใธใ„ใ•ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "VODI"@en ; + skos:closeMatch obo:MONDO_0009338 ; skos:prefLabel "่‚ไธญๅฟƒ้™่„ˆ้–‰้Ž–็—‡ใ‚’ไผดใ†ๅ…็–ซไธๅ…จ็—‡"@ja . -:2200715 - :hasNotificationNumber "51" ; - terms:description "ใƒ†ใƒญใƒกใ‚ข้•ทใฎ็ถญๆŒๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’่ƒŒๆ™ฏใจใ—ใ€็ˆชใฎ่Ž็ธฎใ€ๅฃ่…”ๅ†…็™ฝๆ–‘ใ€็šฎ่†š่‰ฒ็ด ๆฒˆ็€ใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„ใชๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ใฎไป–ใซ๏ผŒๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹Hoyeraal-Hreidarsson็—‡ๅ€™็พคใ€Revesz็—‡ๅ€™็พคใฎไป–ใ€ไธๅ…จๅž‹ใงใ‚ใ‚‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚„ๅฎถๆ—ๆ€ง่‚บ็ทš็ถญ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200715" ; - terms:source ; + + nando:hasNotificationNumber "51" ; + dcterms:description "ใƒ†ใƒญใƒกใ‚ข้•ทใฎ็ถญๆŒๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’่ƒŒๆ™ฏใจใ—ใ€็ˆชใฎ่Ž็ธฎใ€ๅฃ่…”ๅ†…็™ฝๆ–‘ใ€็šฎ่†š่‰ฒ็ด ๆฒˆ็€ใ‚’3ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง้€ ่ก€ไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅคๅ…ธ็š„ใชๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡ใฎไป–ใซ๏ผŒๆœ€้‡็—‡ๅž‹ใงใ‚ใ‚‹Hoyeraal-Hreidarsson็—‡ๅ€™็พคใ€Revesz็—‡ๅ€™็พคใฎไป–ใ€ไธๅ…จๅž‹ใงใ‚ใ‚‹ๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€ใ‚„ๅฎถๆ—ๆ€ง่‚บ็ทš็ถญ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200715" ; + dcterms:source ; a owl:Class ; - rdfs:label "dyskeratosis congenita"@en, "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡"@ja ; + rdfs:label "Dyskeratosis congenita"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใใ‹ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015780 ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–ไธๅ…จ็—‡"@ja ; + skos:closeMatch obo:MONDO_0015780 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡"@ja . -:2200716 - :hasNotificationNumber "2" ; - terms:description "็ดฐ่Œๆ„ŸๆŸ“ใซ็ฝนใ‚Šใ‚„ใ™ใใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgGใ€IgAใ€IgMใ€ใ™ในใฆใฎใ‚ฏใƒฉใ‚นใฎๅ€คใฎไฝŽไธ‹ใŒ่‘—ใ—ใใ€ๆœซๆขข่ก€B็ดฐ่ƒžๆฏ”็Ž‡ใŒ2%ไปฅไธ‹ใฎ็”ทๅญใฎๅ ดๅˆใ€X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆX-linked agammaglobulinemia: XLA๏ผ‰ใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200716" ; - terms:source ; - a owl:Class ; - rdfs:label "X-linked agammaglobulinaemia"@en, "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "XLA"@en ; - skos:closeMatch mondo:MONDO_0010421 ; + + nando:hasNotificationNumber "2" ; + dcterms:description "็ดฐ่Œๆ„ŸๆŸ“ใซ็ฝนใ‚Šใ‚„ใ™ใใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณIgGใ€IgAใ€IgMใ€ใ™ในใฆใฎใ‚ฏใƒฉใ‚นใฎๅ€คใฎไฝŽไธ‹ใŒ่‘—ใ—ใใ€ๆœซๆขข่ก€B็ดฐ่ƒžๆฏ”็Ž‡ใŒ2%ไปฅไธ‹ใฎ็”ทๅญใฎๅ ดๅˆใ€X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆX-linked agammaglobulinemia: XLA๏ผ‰ใŒๅผทใ็–‘ใ‚ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200716" ; + dcterms:source ; + a owl:Class ; + rdfs:label "X-linked agammaglobulinemia"@en, "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚€ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "X-linked agammaglobulinaemia"@en, "XLA"@en ; + skos:closeMatch obo:MONDO_0010421 ; skos:prefLabel "X้€ฃ้Ž–็„กใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja . -:2200717 - :hasNotificationNumber "7" ; - terms:description "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆcommon variable immunodeficiency: CVID๏ผ‰ใฏไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใŸใ‚ใซ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏ่ชใ‚ใ‚‰ใ‚Œใšใ€20๏ฝž40ไปฃใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅฐๅ…ใ‚„้ซ˜้ฝข่€…ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200717" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡๏ผˆcommon variable immunodeficiency: CVID๏ผ‰ใฏไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใฎใŸใ‚ใซ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚ๆ€งๅทฎใฏ่ชใ‚ใ‚‰ใ‚Œใšใ€20๏ฝž40ไปฃใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅฐๅ…ใ‚„้ซ˜้ฝข่€…ใง่จบๆ–ญใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200717" ; + dcterms:source ; a owl:Class ; - rdfs:label "common variable immunodeficiency"@en, "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Common variable immunodeficiency"@en, "ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใŒใŸใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CVID"@en ; - skos:closeMatch mondo:MONDO_0015517 ; + skos:closeMatch obo:MONDO_0015517 ; skos:prefLabel "ๅˆ†้กžไธ่ƒฝๅž‹ๅ…็–ซไธๅ…จ็—‡"@ja . -:2200718 - :hasNotificationNumber "3" ; - terms:description "B็ดฐ่ƒžใฎๅ†…ๅ› ๆ€งใฎใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๆธ…IgMๅ€คใŒๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚Šใ€ๆœ€่ฟ‘ใฏใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ็•ฐๅธธ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200718" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "B็ดฐ่ƒžใฎๅ†…ๅ› ๆ€งใฎใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ้šœๅฎณใŒๆœฌ็–พๆ‚ฃใฎ็—…ๆ…‹ใงใ‚ใ‚Šใ€่ก€ๆธ…IgMๅ€คใŒๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚Šใ€ๆœ€่ฟ‘ใฏใ‚ฏใƒฉใ‚นใ‚นใ‚คใƒƒใƒ็•ฐๅธธ็—‡ใจๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200718" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hyper-IgM syndrome"@en, "้ซ˜IgM็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003947, mondo:MONDO_0010626 ; + rdfs:label "Hyper-IgM syndrome"@en, "ใ“ใ†ใ‚ใ„ใ˜ใƒผใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้ซ˜IgM็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003947 ; skos:prefLabel "้ซ˜IgM็—‡ๅ€™็พค"@ja . -:2200719 - :hasNotificationNumber "1" ; - terms:description "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚น๏ผˆIgG1, IgG2, IgG3, IgG4๏ผ‰ใฎใ†ใก1ใคใชใ„ใ—ใฏใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใฎๆฌ ๆใชใ‚‰ใณใซไฝŽไธ‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚IgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚IgG2ๆฌ ๆ็—‡ใฏIgG4ๆฌ ๆ็—‡ใ€ใ•ใ‚‰ใซใฏIgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200719" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚น๏ผˆIgG1, IgG2, IgG3, IgG4๏ผ‰ใฎใ†ใก1ใคใชใ„ใ—ใฏใ„ใใคใ‹ใฎใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใฎๆฌ ๆใชใ‚‰ใณใซไฝŽไธ‹ใ‚’็คบใ™ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚IgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚IgG2ๆฌ ๆ็—‡ใฏIgG4ๆฌ ๆ็—‡ใ€ใ•ใ‚‰ใซใฏIgAๆฌ ๆ็—‡ใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200719" ; + dcterms:source ; a owl:Class ; - rdfs:label "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡"@ja, "Isolated IgG subclass deficiency"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013576 ; + rdfs:label "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡"@ja, "Isolated IgG subclass deficiency"@en, "ใ‚ใ„ใ˜ใƒผใ˜ใƒผใ•ใถใใ‚‰ใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013576 ; skos:prefLabel "IgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นๆฌ ๆ็—‡"@ja . -:2200720 - :hasNotificationNumber "4" ; - terms:description "้ธๆŠž็š„IgAๆฌ ๆ็—‡ใฏ4ๆญณไปฅไธŠใง่ก€ๆธ…IgAๅ€คใŒ7mg/dLไปฅไธ‹ใงใ€่ก€ๆธ…IgGใŠใ‚ˆใณIgMๅ€คใŒๆญฃๅธธใชๆ‚ฃ่€…ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200720" ; - terms:source ; - a owl:Class ; - rdfs:label "Selective IgA deficiency"@en, "้ธๆŠž็š„IgAๆฌ ๆ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001341 ; - skos:prefLabel "้ธๆŠž็š„IgAๆฌ ๆ"@ja . - -:2200721 - :hasNotificationNumber "5" ; - terms:description "2ๆญณไปฅไธŠใงใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใชใ‚‰ใณใซIgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใŒๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅคš็ณ–ไฝ“ๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹IgGๆŠ—ไฝ“ๅๅฟœใฎๆฌ ๅฆ‚ใฎใŸใ‚ใ€ๅๅพฉๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200721" ; - terms:source ; - a owl:Class ; - rdfs:label "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells"@en, "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡"@ja . + + nando:hasNotificationNumber "4" ; + dcterms:description "้ธๆŠž็š„IgAๆฌ ๆ็—‡ใฏ4ๆญณไปฅไธŠใง่ก€ๆธ…IgAๅ€คใŒ7mg/dLไปฅไธ‹ใงใ€่ก€ๆธ…IgGใŠใ‚ˆใณIgMๅ€คใŒๆญฃๅธธใชๆ‚ฃ่€…ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200720" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Selective IgA deficiency"@en, "ใ›ใ‚“ใŸใใฆใใ‚ใ„ใ˜ใƒผใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ธๆŠž็š„IgAๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001341 ; + skos:prefLabel "้ธๆŠž็š„IgAๆฌ ๆ็—‡"@ja . -:2200722 - :hasNotificationNumber "6" ; - terms:description "6ใ‹ๆœˆไปฅ้™ใฎไนณๅ…ใง่ก€ๆธ…IgGๅ€คใŒๅนด้ฝข็›ธๅฝ“ใฎ-2SDๆœชๆบ€ใงใ€IgAใŠใ‚ˆใณIgMใŒๆญฃๅธธใงใ‚ใ‚Šใ€ใใฎไป–ใฎๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใŒๅฆๅฎšใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200722" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "2ๆญณไปฅไธŠใงใ€่ก€ๆธ…ๅ…็–ซใ‚ฐใƒญใƒ–ใƒชใƒณใชใ‚‰ใณใซIgGใ‚ตใƒ–ใ‚ฏใƒฉใ‚นใŒๆญฃๅธธใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๅคš็ณ–ไฝ“ๆŠ—ๅŽŸใซๅฏพใ™ใ‚‹IgGๆŠ—ไฝ“ๅๅฟœใฎๆฌ ๅฆ‚ใฎใŸใ‚ใ€ๅๅพฉๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200721" ; + dcterms:source ; a owl:Class ; - rdfs:label "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells"@en, "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells"@en, "ใจใใ„ใ“ใ†ใŸใ„ใ•ใ‚“ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015711 ; + skos:prefLabel "็‰น็•ฐๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡"@ja . + + + nando:hasNotificationNumber "6" ; + dcterms:description "6ใ‹ๆœˆไปฅ้™ใฎไนณๅ…ใง่ก€ๆธ…IgGๅ€คใŒๅนด้ฝข็›ธๅฝ“ใฎ-2SDๆœชๆบ€ใงใ€IgAใŠใ‚ˆใณIgMใŒๆญฃๅธธใงใ‚ใ‚Šใ€ใใฎไป–ใฎๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใŒๅฆๅฎšใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200722" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Transient hypogammaglobulinemia of infancy with normal numbers of B cells"@en, "ใซใ‚…ใ†ใ˜ใ„ใฃใ‹ใ›ใ„ใฆใ„ใŒใ‚“ใพใใ‚ใถใ‚Šใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells"@en ; + skos:closeMatch obo:MONDO_0015698 ; skos:prefLabel "ไนณๅ…ไธ€้Žๆ€งไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡"@ja . -:2200723 - :hasNotificationNumber "8" ; - terms:description "ๅๅพฉๆ€งใฎไธŠไธ‹ๆฐ—้“ๆ„ŸๆŸ“ใฎๅญ˜ๅœจใ‹ใ‚‰ๆถฒๆ€งๅ…็–ซไธๅ…จ็—‡๏ผˆๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡๏ผ‰ใŒ็–‘ใ‚ใ‚Œใ‚‹ใŒใ€ๅ‰่ฟฐใฎใ‚ˆใ†ใชๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใชใ„็–พๆ‚ฃใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200723" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ๅๅพฉๆ€งใฎไธŠไธ‹ๆฐ—้“ๆ„ŸๆŸ“ใฎๅญ˜ๅœจใ‹ใ‚‰ๆถฒๆ€งๅ…็–ซไธๅ…จ็—‡๏ผˆๆŠ—ไฝ“็”ฃ็”Ÿไธๅ…จ็—‡๏ผ‰ใŒ็–‘ใ‚ใ‚Œใ‚‹ใŒใ€ๅ‰่ฟฐใฎใ‚ˆใ†ใชๅŽŸๅ› ็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใชใ„็–พๆ‚ฃใŒใ“ใฎ็ฏ„็–‡ใซๅซใพใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200723" ; + dcterms:source ; a owl:Class ; - rdfs:label "23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ"@ja, "Other predominantly antibody deficiencies"@en ; + rdfs:label "23ใ‹ใ‚‰29ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใˆใใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใ—ใ‚…ใจใ™ใ‚‹ใ—ใฃใ‹ใ‚“"@ja-Hira, "23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ"@ja, "Other predominantly antibody deficiencies"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "23ใ‹ใ‚‰29ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆถฒๆ€งๅ…็–ซไธๅ…จใ‚’ไธปใจใ™ใ‚‹็–พๆ‚ฃ"@ja . -:2200724 - :hasNotificationNumber "43" ; - terms:description "CHSใฏใ€็ดฐ่ƒžๅ†…่›‹็™ฝ่ผธ้€ใซใ‹ใ‹ใ‚ใ‚‹CHS1/LYST้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็™ฝ่ก€็ƒๅ†…ใฎๅทจๅคง้ก†็ฒ’ใ‚’็‰นๅพดใจใ—ใ€้ƒจๅˆ†็š„็™ฝๅญ็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใชใฉใ‚’็คบใ™ใ€‚ๆœ€่ฟ‘ใฏใ€็™ฝๅญ็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใฎไธ€ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200724" ; - terms:source ; + + nando:hasNotificationNumber "43" ; + dcterms:description "CHSใฏใ€็ดฐ่ƒžๅ†…่›‹็™ฝ่ผธ้€ใซใ‹ใ‹ใ‚ใ‚‹CHS1/LYST้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็™ฝ่ก€็ƒๅ†…ใฎๅทจๅคง้ก†็ฒ’ใ‚’็‰นๅพดใจใ—ใ€้ƒจๅˆ†็š„็™ฝๅญ็—‡ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€ๅ‡บ่ก€ๅ‚พๅ‘ใชใฉใ‚’็คบใ™ใ€‚ๆœ€่ฟ‘ใฏใ€็™ฝๅญ็—‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใฎไธ€ใคใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200724" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chediak-Higashi syndrome"@en, "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Chรฉdiak-Higashi syndrome"@en, "ใกใ‡ใงใƒใ‚ใฃใใƒปใฒใŒใ—ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "CHS"@en, "Chediak-Higashi็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008963, mondo:MONDO_0100094 ; + skos:closeMatch obo:MONDO_0008963 ; skos:prefLabel "ใƒใ‚งใƒ‡ใ‚ฃใ‚ขใƒƒใ‚ฏใƒปๆฑ็—‡ๅ€™็พค"@ja . -:2200725 - :hasNotificationNumber "41" ; - terms:description "XLPใฏใ€EBใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹็‰น็•ฐ็š„ๅ…็–ซๅฟœ็ญ”ใฎๆฌ ้™ฅใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๅŽŸๅ› ้บไผๅญใŒ2ใค็Ÿฅใ‚‰ใ‚Œใ€SAP/SH2D1A้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹SAP (SLAM-associated protein) ๆฌ ๆ็—‡ใ‚’XLP1ใ€XIAP/BIRC4้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹XIAP (X-linked inhibitor of apoptosis) ๆฌ ๆ็—‡ใ‚’XLP2ใจๅ‘ผใถใ€‚"@ja ; - terms:identifier "2200725" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "XLPใฏใ€EBใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹็‰น็•ฐ็š„ๅ…็–ซๅฟœ็ญ”ใฎๆฌ ้™ฅใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๅŽŸๅ› ้บไผๅญใŒ2ใค็Ÿฅใ‚‰ใ‚Œใ€SAP/SH2D1A้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹SAP (SLAM-associated protein) ๆฌ ๆ็—‡ใ‚’XLP1ใ€XIAP/BIRC4้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚‹XIAP (X-linked inhibitor of apoptosis) ๆฌ ๆ็—‡ใ‚’XLP2ใจๅ‘ผใถใ€‚"@ja ; + dcterms:identifier "NANDO:2200725" ; + dcterms:source ; a owl:Class ; - rdfs:label "X-linked lymphoproliferative syndrome"@en, "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "X-linked lymphoproliferative syndrome"@en, "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "XLP"@en ; - skos:closeMatch mondo:MONDO_0010420, mondo:MONDO_0010627, mondo:MONDO_0024551 ; + skos:closeMatch obo:MONDO_0010627 ; skos:prefLabel "X้€ฃ้Ž–ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja . -:2200726 - :hasNotificationNumber "42" ; - terms:description "ALPSใฏใ‚ขใƒใƒˆใƒผใ‚ทใ‚น๏ผˆ็ดฐ่ƒžๆญป๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใ‚Šใƒชใƒณใƒ‘็ƒๅข—ๆฎ–ใ‚’ใใŸใ—ใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ‚„่‚่„พ่…ซใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’็คบใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚FASไพๅญ˜ใฎ็ดฐ่ƒžๆญป็ตŒ่ทฏใซใ‹ใ‹ใ‚ใ‚‹FASใ€FASใƒชใ‚ฌใƒณใƒ‰ใ€ใ‚ซใ‚นใƒšใƒผใ‚น10ใฎ้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚CD3+ TCRฮฑฮฒ+ CD4- CD8- ใฎใƒ€ใƒ–ใƒซใƒใ‚ฌใƒ†ใ‚ฃใƒ–T็ดฐ่ƒžใฎๅข—ๅŠ ใŒ็‰น่‰ฒใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200726" ; - terms:source ; + + nando:hasNotificationNumber "42" ; + dcterms:description "ALPSใฏใ‚ขใƒใƒˆใƒผใ‚ทใ‚น๏ผˆ็ดฐ่ƒžๆญป๏ผ‰ใฎ้šœๅฎณใซใ‚ˆใ‚Šใƒชใƒณใƒ‘็ƒๅข—ๆฎ–ใ‚’ใใŸใ—ใ€ใƒชใƒณใƒ‘็ฏ€่…ซ่„นใ‚„่‚่„พ่…ซใ€่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’็คบใ™็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚FASไพๅญ˜ใฎ็ดฐ่ƒžๆญป็ตŒ่ทฏใซใ‹ใ‹ใ‚ใ‚‹FASใ€FASใƒชใ‚ฌใƒณใƒ‰ใ€ใ‚ซใ‚นใƒšใƒผใ‚น10ใฎ้บไผๅญ็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚CD3+ TCRฮฑฮฒ+ CD4- CD8- ใฎใƒ€ใƒ–ใƒซใƒใ‚ฌใƒ†ใ‚ฃใƒ–T็ดฐ่ƒžใฎๅข—ๅŠ ใŒ็‰น่‰ฒใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200726" ; + dcterms:source ; a owl:Class ; - rdfs:label "autoimmune lymphoproliferative syndrome"@en, "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Autoimmune lymphoproliferative syndrome"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚Šใ‚“ใฑใžใ†ใ—ใ‚‡ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "ALPS"@en, "ALPS"@ja ; - skos:closeMatch mondo:MONDO_0011158, mondo:MONDO_0017979 ; + skos:closeMatch obo:MONDO_0017979 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค"@ja . -:2200727 - :hasNotificationNumber "44" ; - terms:description "ใ‚ญใƒฉใƒผ๏ผด็ดฐ่ƒžใ‚„NK็ดฐ่ƒžใฎๆ„ŸๆŸ“็ดฐ่ƒžใชใฉใฎๆŽ’้™คๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ…็–ซๅๅฟœใฎๅˆถๅพก็•ฐๅธธใŒใŠใใŸใ‚Šใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใซใ‚ˆใ‚Š่‡ชๅทฑๆŠ—ไฝ“็”ฃ็”Ÿใ‚’ใใŸใ™็–พๆ‚ฃใ‚’ๅซใ‚€ใ€‚2014ๅนดใฎIUISๅˆ†้กžใซใŠใ„ใฆใ€31ใ‹ใ‚‰33ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใจใ—ใฆใ€ไธ‹่จ˜ใŒใ‚ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใฏๆฏŽๅนดๆ–ฐใ—ใ„ๅŽŸๅ› ้บไผๅญใ‚„็–พๆ‚ฃใŒ่ฆ‹ๅ‡บใ•ใ‚ŒใฆใŠใ‚Šใ€ใใฎ้ƒฝๅบฆใ€ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ่ฟฝๅŠ ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ—ข็Ÿฅใฎ็–พๆ‚ฃใซๅฎŒๅ…จใซไธ€่‡ดใ—ใชใ„ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚„่จบๆ–ญใซใคใ„ใฆๅฐ‚้–€็š„ใชๆคœ่จŽใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใŒ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ€Primary Immunodeficiency Database in Japan (PIDJ) (http://pidj.rcai.riken.jp/) ใฎๆ‚ฃ่€…็›ธ่ซ‡ใƒ•ใ‚ฉใƒผใƒ ใง็›ธ่ซ‡ใ™ใ‚‹ใ“ใจใŒๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใจใใฎ้กž็ธ็–พๆ‚ฃใ€‚ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡๏ผˆFHL2๏ผ‰ใ€UNC13D/Munc13-4ๆฌ ๆ็—‡๏ผˆFHL3๏ผ‰ใ€Syntaxin11ๆฌ ๆ็—‡๏ผˆFHL4๏ผ‰ใ€STXBP2/Munc18-2ๆฌ ๆ็—‡๏ผˆFHL5๏ผ‰ใ€Gricelli็—‡ๅ€™็พค2ๅž‹ใ€Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พคใ€‚ITKๆฌ ๆ็—‡ใ€CD27ๆฌ ๆ็—‡ๅˆถๅพกๆ€งT็ดฐ่ƒžใฎ้บไผๅญ็š„ๆฌ ้™ฅใ€‚IPEX็—‡ๅ€™็พคใ€CD25ๆฌ ๆ็—‡ใ€STAT5bๆฌ ๆ็—‡ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ใ‚’ไผดใ‚ใชใ„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆAPECED๏ผ‰ใ€ITCHๆฌ ๆ็—‡่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค๏ผˆALPS๏ผ‰้กž็ธ็–พๆ‚ฃใ€‚ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ใ€FADDๆฌ ๆ็—‡ใ€CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใ€PRKCฮดๆฌ ๆ็—‡่…ธ็‚Žใ‚’ไผดใ†ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ€‚IL-10ๆฌ ๆ็—‡ใ€IL-10Rฮฑๆฌ ๆ็—‡ใ€IL-10Rฮฒๆฌ ๆ็—‡Iๅž‹ใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ็•ฐๅธธ็—‡ใ€‚TREX1ๆฌ ๆ็—‡๏ผˆAicardiโ€“Goutieres็—‡ๅ€™็พค1, AGS1๏ผ‰ใ€RNASEH2Bๆฌ ๆ็—‡๏ผˆAGS2๏ผ‰ใ€RNASEH2Cๆฌ ๆ็—‡๏ผˆAGS3๏ผ‰ใ€RNASEH2Aๆฌ ๆ็—‡๏ผˆAGS4a๏ผ‰ใ€SAMHD1ๆฌ ๆ็—‡๏ผˆAGS5๏ผ‰ใ€ADAR1ๆฌ ๆ็—‡๏ผˆAGS6๏ผ‰ใ€Spondylo enchondro-dysplasiawith immune dysregulation (SPENCD)ใ€‚"@ja ; - terms:identifier "2200727" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:description "ใ‚ญใƒฉใƒผ๏ผด็ดฐ่ƒžใ‚„NK็ดฐ่ƒžใฎๆ„ŸๆŸ“็ดฐ่ƒžใชใฉใฎๆŽ’้™คๆฉŸๆง‹ใฎ้šœๅฎณใซใ‚ˆใ‚Šๅ…็–ซๅๅฟœใฎๅˆถๅพก็•ฐๅธธใŒใŠใใŸใ‚Šใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใซใ‚ˆใ‚Š่‡ชๅทฑๆŠ—ไฝ“็”ฃ็”Ÿใ‚’ใใŸใ™็–พๆ‚ฃใ‚’ๅซใ‚€ใ€‚2014ๅนดใฎIUISๅˆ†้กžใซใŠใ„ใฆใ€31ใ‹ใ‚‰33ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใฎๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใจใ—ใฆใ€ไธ‹่จ˜ใŒใ‚ใ’ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใฏๆฏŽๅนดๆ–ฐใ—ใ„ๅŽŸๅ› ้บไผๅญใ‚„็–พๆ‚ฃใŒ่ฆ‹ๅ‡บใ•ใ‚ŒใฆใŠใ‚Šใ€ใใฎ้ƒฝๅบฆใ€ๅฏพ่ฑก็–พๆ‚ฃใจใ—ใฆ่ฟฝๅŠ ใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚ใพใŸใ€ๆ—ข็Ÿฅใฎ็–พๆ‚ฃใซๅฎŒๅ…จใซไธ€่‡ดใ—ใชใ„ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ‚‚็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ใใฎ็—…ๆ…‹ใ‚„่จบๆ–ญใซใคใ„ใฆๅฐ‚้–€็š„ใชๆคœ่จŽใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใŒ็–‘ใ‚ใ‚Œใ‚‹ๅ ดๅˆใ€Primary Immunodeficiency Database in Japan (PIDJ) (http://pidj.rcai.riken.jp/) ใฎๆ‚ฃ่€…็›ธ่ซ‡ใƒ•ใ‚ฉใƒผใƒ ใง็›ธ่ซ‡ใ™ใ‚‹ใ“ใจใŒๅฏ่ƒฝใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€ง่ก€็ƒ่ฒช้ฃŸๆ€งใƒชใƒณใƒ‘็ต„็น”็ƒ็—‡๏ผˆFHL๏ผ‰ใจใใฎ้กž็ธ็–พๆ‚ฃใ€‚ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡๏ผˆFHL2๏ผ‰ใ€UNC13D/Munc13-4ๆฌ ๆ็—‡๏ผˆFHL3๏ผ‰ใ€Syntaxin11ๆฌ ๆ็—‡๏ผˆFHL4๏ผ‰ใ€STXBP2/Munc18-2ๆฌ ๆ็—‡๏ผˆFHL5๏ผ‰ใ€Gricelli็—‡ๅ€™็พค2ๅž‹ใ€Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พคใ€‚ITKๆฌ ๆ็—‡ใ€CD27ๆฌ ๆ็—‡ๅˆถๅพกๆ€งT็ดฐ่ƒžใฎ้บไผๅญ็š„ๆฌ ้™ฅใ€‚IPEX็—‡ๅ€™็พคใ€CD25ๆฌ ๆ็—‡ใ€STAT5bๆฌ ๆ็—‡ใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ใ‚’ไผดใ‚ใชใ„่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ€‚่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡๏ผˆAPECED๏ผ‰ใ€ITCHๆฌ ๆ็—‡่‡ชๅทฑๅ…็–ซๆ€งใƒชใƒณใƒ‘ๅข—ๆฎ–็—‡ๅ€™็พค๏ผˆALPS๏ผ‰้กž็ธ็–พๆ‚ฃใ€‚ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡ใ€FADDๆฌ ๆ็—‡ใ€CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐใ€PRKCฮดๆฌ ๆ็—‡่…ธ็‚Žใ‚’ไผดใ†ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณใ€‚IL-10ๆฌ ๆ็—‡ใ€IL-10Rฮฑๆฌ ๆ็—‡ใ€IL-10Rฮฒๆฌ ๆ็—‡Iๅž‹ใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ็•ฐๅธธ็—‡ใ€‚TREX1ๆฌ ๆ็—‡๏ผˆAicardiโ€“Goutieres็—‡ๅ€™็พค1, AGS1๏ผ‰ใ€RNASEH2Bๆฌ ๆ็—‡๏ผˆAGS2๏ผ‰ใ€RNASEH2Cๆฌ ๆ็—‡๏ผˆAGS3๏ผ‰ใ€RNASEH2Aๆฌ ๆ็—‡๏ผˆAGS4a๏ผ‰ใ€SAMHD1ๆฌ ๆ็—‡๏ผˆAGS5๏ผ‰ใ€ADAR1ๆฌ ๆ็—‡๏ผˆAGS6๏ผ‰ใ€Spondylo enchondro-dysplasiawith immune dysregulation (SPENCD)ใ€‚"@ja ; + dcterms:identifier "NANDO:2200727" ; + dcterms:source ; a owl:Class ; - rdfs:label "31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ"@ja, "Other diseases of immune dysregulation"@en ; + rdfs:label "31ใ‹ใ‚‰33ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ‚ใ‚“ใˆใใกใ‚‡ใ†ใ›ใคใ—ใ‚‡ใ†ใŒใ„"@ja-Hira, "31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ"@ja, "Other diseases of immune dysregulation"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "31ใ‹ใ‚‰33ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…็–ซ่ชฟ็ฏ€้šœๅฎณ"@ja . -:2200728 - :hasNotificationNumber "44" ; - terms:identifier "2200728" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200728" ; + dcterms:source ; a owl:Class ; - rdfs:label "FHL2"@en, "ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡"@ja ; + rdfs:label "Perforin deficiency"@en, "ใฑใƒผใตใ‰ใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "familial hemophagocytic lymphohistiocytosis 2"@en, "perforin deficiency"@en ; - skos:closeMatch mondo:MONDO_0011337 ; + rdfs:subClassOf ; + skos:altLabel "FHL type 2"@en, "FHL2"@en, "Familial hemophagocytic lymphohistiocytosis 2"@en ; + skos:closeMatch obo:MONDO_0011337 ; skos:prefLabel "ใƒ‘ใƒผใƒ•ใ‚ฉใƒชใƒณๆฌ ๆ็—‡"@ja . -:2200729 - :hasNotificationNumber "44" ; - terms:identifier "2200729" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200729" ; + dcterms:source ; a owl:Class ; - rdfs:label "FHL3"@en, "UNC13D/Munc13-4ๆฌ ๆ็—‡"@ja ; + rdfs:label "UNC13D/Munc13-4 deficiency"@en, "UNC13D/Munc13-4ๆฌ ๆ็—‡"@ja, "ใ‚†ใƒผใˆใฌใ—ใƒผ13ใงใƒใƒผ/ใˆใ‚€ใ‚†ใƒผใˆใฌใ—ใƒผ13โˆ’4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "familial hemophagocytic lymphohistiocytosis 3"@en ; - skos:closeMatch mondo:MONDO_0012146 ; + rdfs:subClassOf ; + skos:altLabel "FHL type 3"@en, "FHL3"@en, "Familial hemophagocytic lymphohistiocytosis 3"@en ; + skos:closeMatch obo:MONDO_0012146 ; skos:prefLabel "UNC13D/Munc13-4ๆฌ ๆ็—‡"@ja . -:2200730 - :hasNotificationNumber "44" ; - terms:identifier "2200730" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200730" ; + dcterms:source ; a owl:Class ; - rdfs:label "FHL4"@en, "Syntaxin11ๆฌ ๆ็—‡"@ja ; + rdfs:label "Syntaxin 11 deficiency"@en, "Syntaxin11ๆฌ ๆ็—‡"@ja, "ใ—ใ‚“ใŸใใ—ใ‚“11ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "familial hemophagocytic lymphohistiocytosis 4"@en ; - skos:closeMatch mondo:MONDO_0011336 ; + rdfs:subClassOf ; + skos:altLabel "FHL type 4"@en, "FHL4"@en, "Familial hemophagocytic lymphohistiocytosis 4"@en ; + skos:closeMatch obo:MONDO_0011336 ; skos:prefLabel "Syntaxin11ๆฌ ๆ็—‡"@ja . -:2200731 - :hasNotificationNumber "44" ; - terms:identifier "2200731" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200731" ; + dcterms:source ; a owl:Class ; - rdfs:label "FHL5"@en, "STXBP2/Munc18-2ๆฌ ๆ็—‡"@ja ; + rdfs:label "STXBP2/Munc18-2 deficiency"@en, "STXBP2/Munc18-2ๆฌ ๆ็—‡"@ja, "ใˆใ™ใฆใƒใƒผใˆใฃใใ™ใณใƒผใดใƒผ2/ใˆใ‚€ใ‚†ใƒผใˆใฌใ—ใƒผ18โˆ’2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "familial hemophagocytic lymphohistiocytosis 5"@en ; - skos:closeMatch mondo:MONDO_0013135 ; + rdfs:subClassOf ; + skos:altLabel "FHL type 5"@en, "FHL5"@en, "Familial hemophagocytic lymphohistiocytosis 5"@en ; + skos:closeMatch obo:MONDO_0013135 ; skos:prefLabel "STXBP2/Munc18-2ๆฌ ๆ็—‡"@ja . -:2200732 - :hasNotificationNumber "44" ; - terms:identifier "2200732" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200732" ; + dcterms:source ; a owl:Class ; - rdfs:label "Gricelli็—‡ๅ€™็พค2ๅž‹"@ja, "Griscelli syndromeย typeย 2"@en ; + rdfs:label "Griscelli syndrome type 2"@en, "Griscelli็—‡ๅ€™็พค2ๅž‹"@ja, "ใใ‚Šใ›ใ‚Šใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011872 ; - skos:prefLabel "Gricelli็—‡ๅ€™็พค2ๅž‹"@ja . + rdfs:subClassOf ; + skos:altLabel "Griscelli syndrome type II"@en, "Griscelli็—‡ๅ€™็พคIIๅž‹"@ja ; + skos:closeMatch obo:MONDO_0011872 ; + skos:prefLabel "Griscelli็—‡ๅ€™็พค2ๅž‹"@ja . -:2200733 - :hasNotificationNumber "44" ; - terms:identifier "2200733" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200733" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hermansky-Pudlak syndromeย typeย 2"@en, "Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹"@ja ; + rdfs:label "Hermansky-Pudlak syndrome type 2"@en, "Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹"@ja, "ใธใ‚‹ใพใ‚“ใ™ใใƒผใฑใฉใ‚‰ใฃใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“2ใŒใŸ"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "HPS-2"@en ; - skos:closeMatch mondo:MONDO_0011997 ; + skos:closeMatch obo:MONDO_0011997 ; skos:prefLabel "Hermansky-Pudlak็—‡ๅ€™็พค2ๅž‹"@ja . -:2200734 - :hasNotificationNumber "44" ; - terms:identifier "2200734" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200734" ; + dcterms:source ; a owl:Class ; - rdfs:label "IL-2-inducible T-cell kinaseย deficiency"@en, "ITKๆฌ ๆ็—‡"@ja ; + rdfs:label "IL-2-inducible T-cell kinase deficiency"@en, "ITKๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใฆใƒใƒผใ‘ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ITKย deficiency"@en ; - skos:closeMatch mondo:MONDO_0013081 ; + rdfs:subClassOf ; + skos:altLabel "ITK deficiency"@en ; + skos:closeMatch obo:MONDO_0013081 ; skos:prefLabel "ITKๆฌ ๆ็—‡"@ja . -:2200735 - :hasNotificationNumber "44" ; - terms:identifier "2200735" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200735" ; + dcterms:source ; a owl:Class ; - rdfs:label "CD27 deficiency"@en, "CD27ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Combined immunodeficiency due toย CD27 deficiency"@en ; - skos:closeMatch mondo:MONDO_0014054, mondo:MONDO_0016536 ; + rdfs:label "CD27 deficiency"@en, "CD27ๆฌ ๆ็—‡"@ja, "ใ—ใƒผใงใƒใƒผ27ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Combined immunodeficiency due to CD27 deficiency"@en ; + skos:closeMatch obo:MONDO_0016536 ; skos:prefLabel "CD27ๆฌ ๆ็—‡"@ja . -:2200736 - :hasNotificationNumber "44" ; - terms:identifier "2200736" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200736" ; + dcterms:source ; a owl:Class ; - rdfs:label "CD25ๆฌ ๆ็—‡"@ja, "Immunodeficiency 41 with lymphoproliferation and autoimmunity"@en ; + rdfs:label "CD25ๆฌ ๆ็—‡"@ja, "Immunodeficiency 41 with lymphoproliferation and autoimmunity"@en, "ใ—ใƒผใงใƒใƒผ25ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011664 ; + rdfs:subClassOf ; + skos:altLabel "CD25 deficiency"@en, "Immunodeficiency due to CD25 deficiency"@en ; + skos:closeMatch obo:MONDO_0011664 ; skos:prefLabel "CD25ๆฌ ๆ็—‡"@ja . -:2200737 - :hasNotificationNumber "44" ; - terms:identifier "2200737" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200737" ; + dcterms:source ; a owl:Class ; - rdfs:label "Growth hormone insensitivity with immunodeficiency"@en, "STAT5bๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "STAT5b deficiency"@en ; - skos:closeMatch mondo:MONDO_0009510 ; + rdfs:label "STAT5b deficiency"@en, "STAT5bๆฌ ๆ็—‡"@ja, "ใˆใ™ใฆใƒใƒผใˆใƒผใฆใƒใƒผ5ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0100211 ; skos:prefLabel "STAT5bๆฌ ๆ็—‡"@ja . -:2200738 - :hasNotificationNumber "44" ; - terms:identifier "2200738" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200738" ; + dcterms:source ; a owl:Class ; - rdfs:label "APECED"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡"@ja ; + rdfs:label "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใŸใ›ใ‚“ใ›ใ„ใชใ„ใถใ‚“ใดใคใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"@en ; - skos:closeMatch mondo:MONDO_0009411 ; + rdfs:subClassOf ; + skos:altLabel "APECED"@en ; + skos:closeMatch obo:MONDO_0009411 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡"@ja . -:2200739 - :hasNotificationNumber "44" ; - terms:identifier "2200739" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200739" ; + dcterms:source ; a owl:Class ; - rdfs:label "ITCHๆฌ ๆ็—‡"@ja, "Syndromic multisystem autoimmune disease due to Itch deficiency"@en ; + rdfs:label "ITCHๆฌ ๆ็—‡"@ja, "Syndromic multisystem autoimmune disease due to Itch deficiency"@en, "ใ‚ใ„ใฆใƒใƒผใ—ใƒผใˆใ„ใกใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ITCHย E3 ubiquitin ligaseย deficiency"@en ; - skos:closeMatch mondo:MONDO_0013245 ; + rdfs:subClassOf ; + skos:altLabel "ITCH E3 ubiquitin ligase deficiency"@en ; + skos:closeMatch obo:MONDO_0013245 ; skos:prefLabel "ITCHๆฌ ๆ็—‡"@ja . -:2200740 - :hasNotificationNumber "44" ; - terms:identifier "2200740" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200740" ; + dcterms:source ; a owl:Class ; - rdfs:label "Caspase-8 deficiency"@en, "ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡"@ja ; + rdfs:label "Caspase-8 deficiency"@en, "ใ‹ใ™ใบใƒผใ™8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "ALPS2B"@en, "autoimmune lymphoproliferative syndrome type 2B"@en ; - skos:closeMatch mondo:MONDO_0011804 ; + skos:closeMatch obo:MONDO_0011804 ; skos:prefLabel "ใ‚ซใ‚นใƒšใƒผใ‚น8ๆฌ ๆ็—‡"@ja . -:2200741 - :hasNotificationNumber "44" ; - terms:identifier "2200741" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200741" ; + dcterms:source ; a owl:Class ; - rdfs:label "FADDๆฌ ๆ็—‡"@ja, "Fas-associated death domain proteinย deficiency"@en ; + rdfs:label "FADDๆฌ ๆ็—‡"@ja, "Fas-associated death domain protein deficiency"@en, "ใˆใตใˆใƒผใงใƒใƒผใงใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "FADD-related immunodeficiency"@en, "FADDย deficiency"@en ; - skos:closeMatch mondo:MONDO_0013408 ; + rdfs:subClassOf ; + skos:altLabel "FADD deficiency"@en, "FADD-related immunodeficiency"@en ; + skos:closeMatch obo:MONDO_0013408 ; skos:prefLabel "FADDๆฌ ๆ็—‡"@ja . -:2200742 - :hasNotificationNumber "44" ; - terms:identifier "2200742" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200742" ; + dcterms:source ; a owl:Class ; - rdfs:label "CARD11 gain-of-function mutations"@en, "CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ"@ja ; + rdfs:label "CARD11 gain-of-function mutations"@en, "CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ"@ja, "ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ11ใใฎใ†ใ‹ใใจใใŒใŸใธใ‚“ใ„"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "CARD11ๆฉŸ่ƒฝ็ฒๅพ—ๅž‹ๅค‰็•ฐ"@ja . -:2200743 - :hasNotificationNumber "44" ; - terms:identifier "2200743" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200743" ; + dcterms:source ; a owl:Class ; - rdfs:label "PKCฮด deficiency"@en, "PRKCฮดๆฌ ๆ็—‡"@ja ; + rdfs:label "PKC-ฮด deficiency"@en, "PRKCฮดๆฌ ๆ็—‡"@ja, "ใดใƒผใ‚ใƒผใ‚‹ใ‘ใƒผใ—ใƒผใงใ‚‹ใŸใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ALPS3"@en, "CVID9"@en, "PKCฮดๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0014253 ; + rdfs:subClassOf ; + skos:altLabel "ALPS3"@en, "CVID9"@en, "PKC-delta deficiency"@en, "PKCฮดๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0014253 ; skos:prefLabel "PRKCฮดๆฌ ๆ็—‡"@ja . -:2200744 - :hasNotificationNumber "44" ; - terms:identifier "2200744" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200744" ; + dcterms:source ; a owl:Class ; - rdfs:label "SPENCDI"@ja, "Spondylo enchondro-dysplasiawith immune dysregulation"@en ; + rdfs:label "SPENCDI"@ja, "Spondylo enchondro-dysplasiawith immune dysregulation"@en, "ใˆใ™ใดใƒผใ„ใƒผใˆใฌใ—ใƒผใงใƒใƒผใ‚ใ„"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "SPENCDI"@en ; - skos:closeMatch mondo:MONDO_0011939 ; + rdfs:subClassOf ; + skos:altLabel "SPENCD"@en, "SPENCDI"@en, "Spondyloenchondrodysplasia with immune dysregulation"@en ; + skos:closeMatch obo:MONDO_0011939 ; skos:prefLabel "SPENCDI"@ja . -:2200745 - :hasNotificationNumber "10" ; - terms:description "้ชจ้ซ„ใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใ€‚ไธญ่€ณ็‚Žใ€ๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่œ‚็ชฉ็น”็‚Žใ€็šฎ่†šๆ„ŸๆŸ“็—‡ใ‚’ๅๅพฉใ—ใ€ๆ™‚ใซๆ•—่ก€็—‡ใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่จบๆ–ญใฏ้ชจ้ซ„ๆคœๆŸปใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใงใ‚ใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใ€็—…ๅž‹ๅˆ†้กžใซใฏ้บไผๅญๅค‰็•ฐใฎๅŒๅฎšใŒๅฟ…่ฆใจใชใ‚‹ใ€‚STๅˆๅ‰คใฎไบˆ้˜ฒๆŠ•ไธŽใ‚„G-CSFใฎๆŠ•ไธŽใฏๆ„ŸๆŸ“้ ปๅบฆใฎๆธ›ๅฐ‘ใจๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใๆ”นๅ–„ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200745" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "้ชจ้ซ„ใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใงใ‚ใ‚‹ใ€‚ไธญ่€ณ็‚Žใ€ๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่œ‚็ชฉ็น”็‚Žใ€็šฎ่†šๆ„ŸๆŸ“็—‡ใ‚’ๅๅพฉใ—ใ€ๆ™‚ใซๆ•—่ก€็—‡ใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่จบๆ–ญใฏ้ชจ้ซ„ๆคœๆŸปใซใŠใ‘ใ‚‹้ก†็ฒ’็ƒ็ณป็ดฐ่ƒžใฎๆˆ็†Ÿ้šœๅฎณใงใ‚ใ‚‹ใŒใ€็ขบๅฎš่จบๆ–ญใ€็—…ๅž‹ๅˆ†้กžใซใฏ้บไผๅญๅค‰็•ฐใฎๅŒๅฎšใŒๅฟ…่ฆใจใชใ‚‹ใ€‚STๅˆๅ‰คใฎไบˆ้˜ฒๆŠ•ไธŽใ‚„G-CSFใฎๆŠ•ไธŽใฏๆ„ŸๆŸ“้ ปๅบฆใฎๆธ›ๅฐ‘ใจๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใๆ”นๅ–„ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200745" ; + dcterms:source ; a owl:Class ; - rdfs:label "severe congenital neutropenia"@en, "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018542 ; + rdfs:label "Severe congenital neutropenia"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018542 ; skos:prefLabel "้‡็—‡ๅ…ˆๅคฉๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja . -:2200746 - :hasNotificationNumber "9" ; - terms:description "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใผๅ…จไพ‹ใงๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ๏ผˆELANE๏ผ‰้บไผๅญใซๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚14๏ฝž35ๆ—ฅๅ‘จๆœŸ๏ผˆๅคšใใฏ21ๆ—ฅๅ‘จๆœŸ๏ผ‰ใงๅฅฝไธญ็ƒใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ้š›ใ€ๆ„ŸๆŸ“็—‡ใซ็ฝนๆ‚ฃใ™ใ‚‹ใŒ3ใ€œ5ๆ—ฅใงๅ›žๅพฉใ™ใ‚‹ใ€‚้€šๅธธใฏๅนด้ฝขใจๅ…ฑใซ่‡ช็„ถ่ปฝๅฟซใ™ใ‚‹่‰ฏๆ€ง็–พๆ‚ฃใงใ€ๆฒป็™‚ใจใ—ใฆใฏSTๅˆๅ‰คใซใ‚ˆใ‚‹ๆ„ŸๆŸ“ไบˆ้˜ฒใ‚„ๅฃ่…”ใ‚ฑใ‚ข็ญ‰ใฎๆ”ฏๆŒ็™‚ๆณ•ใŒใใฎไธปไฝ“ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200746" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Šใ€ใปใผๅ…จไพ‹ใงๅฅฝไธญ็ƒใ‚จใƒฉใ‚นใ‚ฟใƒผใ‚ผ๏ผˆELANE๏ผ‰้บไผๅญใซๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚14๏ฝž35ๆ—ฅๅ‘จๆœŸ๏ผˆๅคšใใฏ21ๆ—ฅๅ‘จๆœŸ๏ผ‰ใงๅฅฝไธญ็ƒใŒๆธ›ๅฐ‘ใ—ใ€ใใฎ้š›ใ€ๆ„ŸๆŸ“็—‡ใซ็ฝนๆ‚ฃใ™ใ‚‹ใŒ3ใ€œ5ๆ—ฅใงๅ›žๅพฉใ™ใ‚‹ใ€‚้€šๅธธใฏๅนด้ฝขใจๅ…ฑใซ่‡ช็„ถ่ปฝๅฟซใ™ใ‚‹่‰ฏๆ€ง็–พๆ‚ฃใงใ€ๆฒป็™‚ใจใ—ใฆใฏSTๅˆๅ‰คใซใ‚ˆใ‚‹ๆ„ŸๆŸ“ไบˆ้˜ฒใ‚„ๅฃ่…”ใ‚ฑใ‚ข็ญ‰ใฎๆ”ฏๆŒ็™‚ๆณ•ใŒใใฎไธปไฝ“ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200746" ; + dcterms:source ; a owl:Class ; - rdfs:label "cyclic neutropenia"@en, "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008090 ; + rdfs:label "Cyclic neutropenia"@en, "ใ—ใ‚…ใ†ใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008090 ; skos:prefLabel "ๅ‘จๆœŸๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja . -:2200747 - :hasNotificationNumber "11" ; - terms:identifier "2200747" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2200747" ; + dcterms:source ; a owl:Class ; - rdfs:label "35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja, "Other congenital defects of neutrophil function"@en ; + rdfs:label "35ใŠใ‚ˆใณ36ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใพใ‚“ใ›ใ„ใฎใ‘ใ„ใ‹ใ‚’ใŸใฉใ‚‹ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja, "Other congenital defects of neutrophil function"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "35ๅŠใณ36ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja . -:2200748 - :hasNotificationNumber "11" ; - terms:description "ๆœซๆขข่ก€ๅฅฝไธญ็ƒ็ตถๅฏพๆ•ฐใŒ500/ฮผLไปฅไธ‹ใŒ2๏ฝž3ใ‹ๆœˆๆŒ็ถšใ—ใ€่‡จๅบŠ็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€ๅคšใใฏไนณๅ…ๆœŸๅพŒๅŠใ‹ใ‚‰ๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆธ…ไธญใฎๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฏ้™ฝๆ€งใงใ‚ใ‚‹ใŒใ€ๆคœๆŸปๆณ•ใฎๆ„Ÿๅบฆใซใ‚ˆใฃใฆใฏ้™ฐๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็—‡ไพ‹ใงใ€ๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฎ่‡ช็„ถๆถˆๅคฑใซไผดใ„ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใฏ่ปฝๅฟซใ™ใ‚‹่‰ฏๅฅฝใช่‡จๅบŠ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200748" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ๆœซๆขข่ก€ๅฅฝไธญ็ƒ็ตถๅฏพๆ•ฐใŒ500/ฮผLไปฅไธ‹ใŒ2๏ฝž3ใ‹ๆœˆๆŒ็ถšใ—ใ€่‡จๅบŠ็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€ๅคšใใฏไนณๅ…ๆœŸๅพŒๅŠใ‹ใ‚‰ๅนผๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆธ…ไธญใฎๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฏ้™ฝๆ€งใงใ‚ใ‚‹ใŒใ€ๆคœๆŸปๆณ•ใฎๆ„Ÿๅบฆใซใ‚ˆใฃใฆใฏ้™ฐๆ€งใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใปใจใ‚“ใฉใฎ็—‡ไพ‹ใงใ€ๆŠ—ๅฅฝไธญ็ƒๆŠ—ไฝ“ใฎ่‡ช็„ถๆถˆๅคฑใซไผดใ„ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใฏ่ปฝๅฟซใ™ใ‚‹่‰ฏๅฅฝใช่‡จๅบŠ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200748" ; + dcterms:source ; a owl:Class ; - rdfs:label "autoimmune neutropenia"@en, "่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Autoimmune neutropenia"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "AIN "@en ; + rdfs:subClassOf ; + skos:altLabel "AIN"@en ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€งๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja . -:2200749 - :hasNotificationNumber "11" ; - terms:description "C16ORF57ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅคšๅฝข็šฎ่†š่Ž็ธฎใ€็ˆช่‚ฅๅŽš็—‡ใ€ๆŽŒ่น ่ง’ๅŒ–็—‡ใ€ไฝŽ่บซ้•ทใ€้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ—ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎๅˆไฝตใ‚‚ใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200749" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "C16ORF57ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅคšๅฝข็šฎ่†š่Ž็ธฎใ€็ˆช่‚ฅๅŽš็—‡ใ€ๆŽŒ่น ่ง’ๅŒ–็—‡ใ€ไฝŽ่บซ้•ทใ€้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ—ใ€้ชจ้ซ„็•ฐๅฝขๆˆ็—‡ๅ€™็พคใฎๅˆไฝตใ‚‚ใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200749" ; + dcterms:source ; a owl:Class ; - rdfs:label "Clericuzio-type poikiloderma with neutropenia syndrome"@en, "ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡"@ja ; + rdfs:label "Clericuzio-type poikiloderma with neutropenia syndrome"@en, "ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใใ‚Œใ‚Šใฃใใ˜ใŠใŒใŸใŸใ‘ใ„ใฒใตใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "PN"@en ; - skos:closeMatch mondo:MONDO_0011405 ; + skos:closeMatch obo:MONDO_0011405 ; skos:prefLabel "ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’ไผดใ†Clericuzioๅž‹ๅคšๅฝข็šฎ่†š่Ž็ธฎ็—‡"@ja . -:2200750 - :hasNotificationNumber "11" ; - terms:description "COH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€็ถฒ่†œ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200750" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "COH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็‰น็•ฐ้ก”่ฒŒใ€็ถฒ่†œ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200750" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cohen็—‡ๅ€™็พค"@ja, "cohen syndrome"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008999 ; + rdfs:label "Cohen syndrome"@en, "Cohen็—‡ๅ€™็พค"@ja, "ใ“ใƒผใˆใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008999 ; skos:prefLabel "Cohen็—‡ๅ€™็พค"@ja . -:2200751 - :hasNotificationNumber "11" ; - terms:description "Tafazzin๏ผˆTAZ๏ผ‰ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅฟƒ็ญ‹็—‡ใ€ๆˆ้•ท้…ๆปžใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200751" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "Tafazzin๏ผˆTAZ๏ผ‰ใฎๅค‰็•ฐใซใ‚ˆใ‚Šๅฟƒ็ญ‹็—‡ใ€ๆˆ้•ท้…ๆปžใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200751" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bart syndrome"@en, "Barth็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Barth syndrome"@en, "Barth็—‡ๅ€™็พค"@ja, "ใฐใƒผใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010543 ; skos:prefLabel "Barth็—‡ๅ€™็พค"@ja . -:2200752 - :hasNotificationNumber "11" ; - terms:description "ใ‚จใƒณใƒ‰ใ‚ฝใƒผใƒ ใ‚ขใƒ€ใƒ—ใ‚ฟใƒผ่›‹็™ฝใงใ‚ใ‚‹p14ใฎๆฌ ๆใซใ‚ˆใ‚Š้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€CD8T็ดฐ่ƒžใฎ็ดฐ่ƒž้šœๅฎณๆ€งไฝŽไธ‹ใ€้™ๅฑ€ๆ€งใฎ็™ฝ็šฎ็—‡ใ€ๆˆ้•ท้šœๅฎณใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200752" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ใ‚จใƒณใƒ‰ใ‚ฝใƒผใƒ ใ‚ขใƒ€ใƒ—ใ‚ฟใƒผ่›‹็™ฝใงใ‚ใ‚‹p14ใฎๆฌ ๆใซใ‚ˆใ‚Š้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ€ไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡ใ€CD8T็ดฐ่ƒžใฎ็ดฐ่ƒž้šœๅฎณๆ€งไฝŽไธ‹ใ€้™ๅฑ€ๆ€งใฎ็™ฝ็šฎ็—‡ใ€ๆˆ้•ท้šœๅฎณใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200752" ; + dcterms:source ; a owl:Class ; - rdfs:label "P14 deficiency"@en, "P14ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "P14 deficiency"@en, "P14ๆฌ ๆ็—‡"@ja, "ใดใƒผ14ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012559 ; skos:prefLabel "P14ๆฌ ๆ็—‡"@ja . -:2200753 - :hasNotificationNumber "11" ; - terms:description "Wiskot-Aldrich็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใงใ‚ใ‚‹WASใฎๆ’ๅธธๆดปๆ€งๅŒ–ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใจใจใ‚‚ใซๅ˜็ƒๆธ›ๅฐ‘ใ‚„้ชจ้ซ„็•ฐๅฝขๆˆใ‚’ไผดใ†ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200753" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "Wiskot-Aldrich็—‡ๅ€™็พคใฎๅŽŸๅ› ้บไผๅญใงใ‚ใ‚‹WASใฎๆ’ๅธธๆดปๆ€งๅŒ–ๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚้‡็—‡ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใจใจใ‚‚ใซๅ˜็ƒๆธ›ๅฐ‘ใ‚„้ชจ้ซ„็•ฐๅฝขๆˆใ‚’ไผดใ†ใ€‚X้€ฃ้Ž–ๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200753" ; + dcterms:source ; a owl:Class ; - rdfs:label "X linked severe congenital neutropenia"@en, "X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "X linked severe congenital neutropenia"@en, "X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ“ใ†ใกใ‚…ใ†ใใ‚…ใ†ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010294 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010294 ; skos:prefLabel "X้€ฃ้Ž–ๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡"@ja . -:2200754 - :hasNotificationNumber "11" ; - terms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚น6ใƒชใƒณ้…ธใƒˆใƒฉใƒณใ‚นใ‚ซใƒญใƒฉใƒผใ‚ผ๏ผˆG6PT1๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ไปฃ่ฌๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€ไฝŽ่ก€็ณ–ใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’ๆฅใ™ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200754" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚น6ใƒชใƒณ้…ธใƒˆใƒฉใƒณใ‚นใ‚ซใƒญใƒฉใƒผใ‚ผ๏ผˆG6PT1๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ‚ฐใƒชใ‚ณใƒผใ‚ฒใƒณใŒ่“„็ฉใ—ใ€ๅฅฝไธญ็ƒๆธ›ๅฐ‘ใ‚’็™บ็—‡ใ™ใ‚‹ไปฃ่ฌๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไฝŽ่ก€็ณ–ใ€ไนณ้…ธใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ€ไฝŽ่ก€็ณ–ใจใจใ‚‚ใซๅฅฝไธญ็ƒๆธ›ๅฐ‘็—‡ใ‚’ๆฅใ™ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200754" ; + dcterms:source ; a owl:Class ; - rdfs:label "Glycogen storage disease type 1B"@en, "็ณ–ๅŽŸ็—…1bๅž‹"@ja ; + rdfs:label "Glycogen storage disease type 1b"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…Ibๅž‹"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009288 ; - skos:prefLabel "็ณ–ๅŽŸ็—…1bๅž‹"@ja . - -:2200755 - :hasNotificationNumber "13" ; - terms:description "็™ฝ่ก€็ƒใซใŠใ‘ใ‚‹ๆŽฅ็€ๅˆ†ๅญใงใ‚ใ‚‹๏ข2ใ‚คใƒณใƒ†ใ‚ฐใƒชใƒณใ‚„ใ‚ปใƒฌใ‚ฏใƒใƒณใƒชใ‚ฌใƒณใƒ‰ใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใ€‚ๆŽฅ็€ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๆ„ŸๆŸ“้ƒจไฝใธใฎ็™ฝ่ก€็ƒๆตธๆฝคใŒไธ่ƒฝใจใชใ‚Šใ€ๆ„ŸๆŸ“็—‡ใŒ้ทๅปถใ™ใ‚‹ใ€‚็ดฐ่Œใ€็œŸ่Œใซใ‚ˆใ‚‹้›ฃๆฒปๆ€ง็šฎ่†š็‚Žใ€ไธญ่€ณ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏ่ปฝๅบฆใ‹ใ‚‰ไธญ็จ‹ๅบฆใงใ‚ใ‚ŒใฐๆŠ—่Œๅ‰ค็ญ‰ใฎๅฏพๅ‡ฆ็™‚ๆณ•ใ‚’่กŒใ†ใŒใ€้‡็—‡ใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚"@ja ; - terms:identifier "2200755" ; - terms:source ; - a owl:Class ; - rdfs:label "leukocyte adhesion deficiency"@en, "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009288 ; + skos:prefLabel "็ณ–ๅŽŸ็—…Ibๅž‹"@ja . + + + nando:hasNotificationNumber "13" ; + dcterms:description "็™ฝ่ก€็ƒใซใŠใ‘ใ‚‹ๆŽฅ็€ๅˆ†ๅญใงใ‚ใ‚‹๏ข2ใ‚คใƒณใƒ†ใ‚ฐใƒชใƒณใ‚„ใ‚ปใƒฌใ‚ฏใƒใƒณใƒชใ‚ฌใƒณใƒ‰ใฎ็™บ็พ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃใ€‚ๆŽฅ็€ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใ‚Šๆ„ŸๆŸ“้ƒจไฝใธใฎ็™ฝ่ก€็ƒๆตธๆฝคใŒไธ่ƒฝใจใชใ‚Šใ€ๆ„ŸๆŸ“็—‡ใŒ้ทๅปถใ™ใ‚‹ใ€‚็ดฐ่Œใ€็œŸ่Œใซใ‚ˆใ‚‹้›ฃๆฒปๆ€ง็šฎ่†š็‚Žใ€ไธญ่€ณ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๆฒป็™‚ใฏ่ปฝๅบฆใ‹ใ‚‰ไธญ็จ‹ๅบฆใงใ‚ใ‚ŒใฐๆŠ—่Œๅ‰ค็ญ‰ใฎๅฏพๅ‡ฆ็™‚ๆณ•ใ‚’่กŒใ†ใŒใ€้‡็—‡ใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ้ฉๅฟœใจใชใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ€‚"@ja ; + dcterms:identifier "NANDO:2200755" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Leukocyte adhesion deficiency"@en, "ใฏใฃใ‘ใฃใใ‚…ใ†ใ›ใฃใกใ‚ƒใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "LAD"@en ; - skos:closeMatch mondo:MONDO_0007293, mondo:MONDO_0017570 ; + skos:closeMatch obo:MONDO_0017570 ; skos:prefLabel "็™ฝ่ก€็ƒๆŽฅ็€ไธๅ…จ็—‡"@ja . -:2200756 - :hasNotificationNumber "12" ; - terms:description "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค๏ผˆShwachman-Diamond syndrome: SDS๏ผ‰ใฏ่†ตๅค–ๅˆ†ๆณŒใฎ็•ฐๅธธใจ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจๆ ผ็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒชใƒœใ‚ฝใƒผใƒ ็”Ÿๆˆใซ้–ขไธŽใ™ใ‚‹SBDS่›‹็™ฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใฏ่†ต้…ต็ด ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใฎ่ฃœๅ……ใ€่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใซๅฏพใ—ใฆใฏ่ผธ่ก€ใ€้‡็—‡ไพ‹ใงใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200756" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค๏ผˆShwachman-Diamond syndrome: SDS๏ผ‰ใฏ่†ตๅค–ๅˆ†ๆณŒใฎ็•ฐๅธธใจ่ก€็ƒๆธ›ๅฐ‘ใ€้ชจๆ ผ็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ใƒชใƒœใ‚ฝใƒผใƒ ็”Ÿๆˆใซ้–ขไธŽใ™ใ‚‹SBDS่›‹็™ฝใฎ็•ฐๅธธใงใ‚ใ‚‹ใ€‚ๆฒป็™‚ใจใ—ใฆใฏ่†ต้…ต็ด ใ€่„‚ๆบถๆ€งใƒ“ใ‚ฟใƒŸใƒณใฎ่ฃœๅ……ใ€่ฒง่ก€ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใซๅฏพใ—ใฆใฏ่ผธ่ก€ใ€้‡็—‡ไพ‹ใงใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใŒ่€ƒๆ…ฎใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200756" ; + dcterms:source ; a owl:Class ; - rdfs:label "Shwachman-Diamond syndrome"@en, "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Shwachman-Diamond syndrome"@en, "ใ—ใ‚…ใ‚ใฃใฏใพใ‚“ใƒปใ ใ„ใ‚ใ‚‚ใ‚“ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "SDS"@en, "Shwachman-Diamond็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009833, mondo:MONDO_0044204 ; + skos:closeMatch obo:MONDO_0009833 ; skos:prefLabel "ใ‚ทใƒฅใƒฏใƒƒใƒใƒžใƒณใƒปใƒ€ใ‚คใ‚ขใƒขใƒณใƒ‰็—‡ๅ€™็พค"@ja . -:2200757 - :hasNotificationNumber "14" ; - terms:description "้ฃŸ็ดฐ่ƒžใฎๆฎบ่Œ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็ดฐ่Œใ‚„็œŸ่Œใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚ใพใŸใ€ๅ…็–ซๅฟœ็ญ”ใฎๅˆถๅพก็•ฐๅธธใ‚’่ชใ‚ใ€้Žๅ‰ฐใช็‚Ž็—‡ๅๅฟœใŒ้ทๅปถใ—่‚‰่Šฝ่…ซๅฝขๆˆใ‚„่‚‰่Šฝ่…ซๆ€ง่…ธ็‚Žใ‚’ใใŸใ™ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰คๆŠ•ไธŽใชใฉใŒไธปไฝ“ใจใชใ‚‹ใŒใ€้‡ๅบฆใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200757" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "้ฃŸ็ดฐ่ƒžใฎๆฎบ่Œ่ƒฝใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใง็ดฐ่Œใ‚„็œŸ่Œใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ไนณๅ…ๆœŸใ‹ใ‚‰้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚ใพใŸใ€ๅ…็–ซๅฟœ็ญ”ใฎๅˆถๅพก็•ฐๅธธใ‚’่ชใ‚ใ€้Žๅ‰ฐใช็‚Ž็—‡ๅๅฟœใŒ้ทๅปถใ—่‚‰่Šฝ่…ซๅฝขๆˆใ‚„่‚‰่Šฝ่…ซๆ€ง่…ธ็‚Žใ‚’ใใŸใ™ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰คๆŠ•ไธŽใชใฉใŒไธปไฝ“ใจใชใ‚‹ใŒใ€้‡ๅบฆใฎๅ ดๅˆใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคใ‚’่€ƒๆ…ฎใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200757" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic granulomatous disease"@en, "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Chronic granulomatous disease"@en, "ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CGD"@en ; - skos:closeMatch mondo:MONDO_0010600, mondo:MONDO_0018305 ; + skos:closeMatch obo:MONDO_0018305 ; skos:prefLabel "ๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . -:2200758 - :hasNotificationNumber "15" ; - terms:description "ๅฅฝไธญ็ƒใฎใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆMPO๏ผ‰ใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏ่ปฝๅบฆใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๅ†…ๆฎบ่Œไฝœ็”จใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ—ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200758" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "ๅฅฝไธญ็ƒใฎใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผ๏ผˆMPO๏ผ‰ใฎๆฌ ๆใ‚ใ‚‹ใ„ใฏ่ปฝๅบฆใฎๆธ›ๅฐ‘ใซใ‚ˆใ‚Šใ€็ดฐ่ƒžๅ†…ๆฎบ่Œไฝœ็”จใŒไฝŽไธ‹ใ™ใ‚‹ใ€‚ใใฎใŸใ‚ใ€ใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’ๅๅพฉใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€็„ก็—‡็Šถใง็ตŒ้Žใ—ๅถ็„ถ็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200758" ; + dcterms:source ; a owl:Class ; - rdfs:label "myeloperoxidase deficiency"@en, "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009694 ; + rdfs:label "Myeloperoxidase deficiency"@en, "ใฟใˆใ‚ใบใ‚‹ใŠใใ—ใ ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009694 ; skos:prefLabel "ใƒŸใ‚จใƒญใƒšใƒซใ‚ชใ‚ญใ‚ทใƒ€ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200759 - :hasNotificationNumber "16" ; - terms:description "BCGใ‚„้žๅฎšๅž‹ๆŠ—้…ธ่Œใชใฉๅผฑๆฏ’ๆŠ—้…ธ่Œใซๅฏพใ—ใฆ้ธๆŠž็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ—ใ€็ตๆ ธ่Œใ‚„ใ‚ตใƒซใƒขใƒใƒฉใชใฉใฎ็ดฐ่ƒžๅ†…ๅฏ„็”Ÿ่Œใซๅฏพใ—ใฆ้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’ใใŸใ™ใ€‚ใ“ใฎใŸใ‚ใ€ไป–ใฎ็ดฐ่Œใ‚„็œŸ่Œใ€ใ‚ฆใ‚คใƒซใ‚นใชใฉใซๅฏพใ—ใฆใฏๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ•ใชใ„ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰ค๏ผˆๆŠ—็ตๆ ธ็ด„๏ผ‰็ญ‰ใฎๅ†…็ง‘็š„ๆฒป็™‚ใŒไธปไฝ“ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200759" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "BCGใ‚„้žๅฎšๅž‹ๆŠ—้…ธ่Œใชใฉๅผฑๆฏ’ๆŠ—้…ธ่Œใซๅฏพใ—ใฆ้ธๆŠž็š„ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ—ใ€็ตๆ ธ่Œใ‚„ใ‚ตใƒซใƒขใƒใƒฉใชใฉใฎ็ดฐ่ƒžๅ†…ๅฏ„็”Ÿ่Œใซๅฏพใ—ใฆ้‡็ฏคใชๆ„ŸๆŸ“็—‡ใ‚’ใใŸใ™ใ€‚ใ“ใฎใŸใ‚ใ€ไป–ใฎ็ดฐ่Œใ‚„็œŸ่Œใ€ใ‚ฆใ‚คใƒซใ‚นใชใฉใซๅฏพใ—ใฆใฏๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’็คบใ•ใชใ„ใ€‚ๆฒป็™‚ใฏๆŠ—็”Ÿๅ‰ค๏ผˆๆŠ—็ตๆ ธ็ด„๏ผ‰็ญ‰ใฎๅ†…็ง‘็š„ๆฒป็™‚ใŒไธปไฝ“ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200759" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mendelian susceptibility to mycobacterial disease"@en, "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Mendelian susceptibility to mycobacterial disease"@en, "ใ‚ใ‚“ใงใ‚‹ใ„ใงใ‚“ใŒใŸใพใ„ใ“ใฐใใฆใ‚Šใ‚ใ„ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "MSMD"@en ; - skos:closeMatch mondo:MONDO_0019146 ; + skos:closeMatch obo:MONDO_0019146 ; skos:prefLabel "ใƒกใƒณใƒ‡ใƒซ้บไผๅž‹ใƒžใ‚คใ‚ณใƒใ‚ฏใƒ†ใƒชใ‚ขๆ˜“ๆ„ŸๆŸ“็—‡"@ja . -:2200760 - :hasNotificationNumber "17" ; - terms:description "CGDใ€MPOๆฌ ๆ็—‡ใ€MSMDไปฅๅค–ใซใ‚‚็™ฝ่ก€็ƒใฎๆฉŸ่ƒฝ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200760" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "CGDใ€MPOๆฌ ๆ็—‡ใ€MSMDไปฅๅค–ใซใ‚‚็™ฝ่ก€็ƒใฎๆฉŸ่ƒฝ็•ฐๅธธใ‚’็คบใ™็–พๆ‚ฃใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200760" ; + dcterms:source ; a owl:Class ; - rdfs:label "38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ"@ja, "Other congenital defects of phagocyte function"@en ; + rdfs:label "38ใ‹ใ‚‰42ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใฏใฃใ‘ใฃใใ‚…ใ†ใใฎใ†ใ„ใ˜ใ‚‡ใ†"@ja-Hira, "38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ"@ja, "Other congenital defects of phagocyte function"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "38ใ‹ใ‚‰42ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็™ฝ่ก€็ƒๆฉŸ่ƒฝ็•ฐๅธธ"@ja . -:2200761 - :hasNotificationNumber "24" ; - terms:description "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ๏ผˆๆญฏ็‰™ๆฌ ๆ๏ผ่Œๅ‡บไธๅ…จใƒปๅ††้Œ็Šถๆญฏใ€็™บๆฑ—ไฝŽไธ‹ใ‚„็„กๆฑ—็—‡ใ€็ฒ—ใช้ ญ้ซชใ‚„็œ‰ๆฏ›๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใ‚„ๅคง็†็Ÿณ้ชจ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Š่‡จๅบŠๅƒใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚NF-ฮบBใ‚ทใ‚ฐใƒŠใƒซไผ้”้šœๅฎณใŒๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉใŒNEMO้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใŒใ€IฮบBฮฑ้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ช็„ถๅ…็–ซใ€็ดฐ่ƒžๆ€งๅ…็–ซใ€ๆถฒๆ€งๅ…็–ซใฎใ„ใšใ‚Œใซใ‚‚็จฎใ€…ใฎ็จ‹ๅบฆใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ใ„ใ‚ใ„ใ‚ใช็—…ๅŽŸไฝ“ใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ใƒ˜ใƒซใƒšใ‚นๅฑžใ‚ฆใ‚คใƒซใ‚นใ‚„ๆŠ—้…ธ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ‹ใƒฅใƒผใƒขใ‚ทใ‚นใƒ†ใ‚ฃใ‚น่‚บ็‚Ž็ญ‰ใงใฏ้‡็—‡ๅŒ–ใ—ใ‚„ใ™ใใ€ๆญปไบกใ™ใ‚‹ๅ ดๅˆใ‚‚ๅฐ‘ใชใใชใ„ใ€‚็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใฎๅˆไฝต้ ปๅบฆใŒ้ซ˜ใใ€้›ฃๆฒปๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200761" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ๏ผˆๆญฏ็‰™ๆฌ ๆ๏ผ่Œๅ‡บไธๅ…จใƒปๅ††้Œ็Šถๆญฏใ€็™บๆฑ—ไฝŽไธ‹ใ‚„็„กๆฑ—็—‡ใ€็ฒ—ใช้ ญ้ซชใ‚„็œ‰ๆฏ›๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใ‚„ๅคง็†็Ÿณ้ชจ็—…ใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚Š่‡จๅบŠๅƒใฏๅคšๅฝฉใงใ‚ใ‚‹ใ€‚NF-ฮบBใ‚ทใ‚ฐใƒŠใƒซไผ้”้šœๅฎณใŒๅŸบๆœฌ็—…ๆ…‹ใงใ‚ใ‚Šใ€ใปใจใ‚“ใฉใŒNEMO้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใŒใ€IฮบBฮฑ้บไผๅญ็•ฐๅธธใŒๅŽŸๅ› ใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚่‡ช็„ถๅ…็–ซใ€็ดฐ่ƒžๆ€งๅ…็–ซใ€ๆถฒๆ€งๅ…็–ซใฎใ„ใšใ‚Œใซใ‚‚็จฎใ€…ใฎ็จ‹ๅบฆใซ็•ฐๅธธใŒใ‚ใ‚‹ใŸใ‚ใ€ใ„ใ‚ใ„ใ‚ใช็—…ๅŽŸไฝ“ใซๅฏพใ—ใฆๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€ใƒ˜ใƒซใƒšใ‚นๅฑžใ‚ฆใ‚คใƒซใ‚นใ‚„ๆŠ—้…ธ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ‹ใƒฅใƒผใƒขใ‚ทใ‚นใƒ†ใ‚ฃใ‚น่‚บ็‚Ž็ญ‰ใงใฏ้‡็—‡ๅŒ–ใ—ใ‚„ใ™ใใ€ๆญปไบกใ™ใ‚‹ๅ ดๅˆใ‚‚ๅฐ‘ใชใใชใ„ใ€‚็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใฎๅˆไฝต้ ปๅบฆใŒ้ซ˜ใใ€้›ฃๆฒปๆ€งใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200761" ; + dcterms:source ; a owl:Class ; - rdfs:label "Anhidrotic ectodermal dysplasia with immunodeficiency"@en, "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Anhidrotic ectodermal dysplasia with immunodeficiency"@en, "ใ‚ใ‚“ใˆใใตใœใ‚“ใ‚’ใจใ‚‚ใชใ†ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "EDA-ID"@en ; - skos:closeMatch mondo:MONDO_0010293, mondo:MONDO_0020740 ; + skos:closeMatch obo:MONDO_0010293 ; skos:prefLabel "ๅ…็–ซไธๅ…จใ‚’ไผดใ†็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆ็•ฐๅธธ็—‡"@ja . -:2200762 - :hasNotificationNumber "21" ; - terms:description "็ฒๅพ—ๅ…็–ซใŒๆœช็†Ÿใงใ‚ใ‚‹ไนณๅนผๅ…ๆœŸใซใ€่‚บ็‚Ž็ƒ่Œใชใฉใซใ‚ˆใ‚‹invasive bacterial infection๏ผˆไพต่ฅฒๆ€งๆ„ŸๆŸ“็—‡๏ผ‰ใ‚’่ตทใ“ใ—ใ‚„ใ™ใใ€ๆญปไบก็Ž‡ใŒ้ซ˜ใ„ใ€‚ไนณๅนผๅ…ๆœŸใฎๆ„ŸๆŸ“็—‡ๅฏพ็ญ–ใŒๆฅตใ‚ใฆ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200762" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "็ฒๅพ—ๅ…็–ซใŒๆœช็†Ÿใงใ‚ใ‚‹ไนณๅนผๅ…ๆœŸใซใ€่‚บ็‚Ž็ƒ่Œใชใฉใซใ‚ˆใ‚‹invasive bacterial infection๏ผˆไพต่ฅฒๆ€งๆ„ŸๆŸ“็—‡๏ผ‰ใ‚’่ตทใ“ใ—ใ‚„ใ™ใใ€ๆญปไบก็Ž‡ใŒ้ซ˜ใ„ใ€‚ไนณๅนผๅ…ๆœŸใฎๆ„ŸๆŸ“็—‡ๅฏพ็ญ–ใŒๆฅตใ‚ใฆ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200762" ; + dcterms:source ; a owl:Class ; - rdfs:label "IRAK4 deficiency"@en, "IRAK4ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011888 ; + rdfs:label "IRAK4 deficiency"@en, "IRAK4ๆฌ ๆ็—‡"@ja, "ใ‚ใ„ใ‚‰ใฃใ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011888 ; skos:prefLabel "IRAK4ๆฌ ๆ็—‡"@ja . -:2200763 - :hasNotificationNumber "23" ; - terms:description "IRAK4ๆฌ ๆ็—‡ใฎ้ …ใ‚’ๅ‚็…งใ€‚่‡จๅบŠๅƒใงใฏIRAK4ๆฌ ๆ็—‡ใจๅŒบๅˆฅใงใใชใ„ใ€‚"@ja ; - terms:identifier "2200763" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "IRAK4ๆฌ ๆ็—‡ใฎ้ …ใ‚’ๅ‚็…งใ€‚่‡จๅบŠๅƒใงใฏIRAK4ๆฌ ๆ็—‡ใจๅŒบๅˆฅใงใใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200763" ; + dcterms:source ; a owl:Class ; - rdfs:label "MyD88 deficiency"@en, "MyD88ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012839 ; + rdfs:label "MyD88 deficiency"@en, "MyD88ๆฌ ๆ็—‡"@ja, "ใฟใฃใฉ88 / ใพใ„ใงใƒใƒผ88ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012839 ; skos:prefLabel "MyD88ๆฌ ๆ็—‡"@ja . -:2200764 - :hasNotificationNumber "22" ; - terms:description "็šฎ่†šใ€็ˆชใ€็ฒ˜่†œใชใฉใฎๅ†็™บๆ€งใ€้›ฃๆฒปๆ€งใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚้€šๅธธใฏๆ…ขๆ€งใซๆŒ็ถšใ™ใ‚‹่กจๅœจๆ€งใฎ็œŸ่Œๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚้บไผๆ€งใฎใ‚‚ใฎใซใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200764" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "็šฎ่†šใ€็ˆชใ€็ฒ˜่†œใชใฉใฎๅ†็™บๆ€งใ€้›ฃๆฒปๆ€งใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“ใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚้€šๅธธใฏๆ…ขๆ€งใซๆŒ็ถšใ™ใ‚‹่กจๅœจๆ€งใฎ็œŸ่Œๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚้บไผๆ€งใฎใ‚‚ใฎใซใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200764" ; + dcterms:source ; a owl:Class ; - rdfs:label "chronic mucocutaneous candidiasis"@en, "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Chronic mucocutaneous candidiasis"@en, "ใพใ‚“ใ›ใ„ใฒใตใญใ‚“ใพใใ‹ใ‚“ใ˜ใ ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CMC"@en ; - skos:closeMatch mondo:MONDO_0008094, mondo:MONDO_0015279 ; + skos:closeMatch obo:MONDO_0015279 ; skos:prefLabel "ๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡"@ja . -:2200765 - :hasNotificationNumber "25" ; - terms:description "ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200765" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:identifier "NANDO:2200765" ; + dcterms:source ; a owl:Class ; - rdfs:label "44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ"@ja, "Other defects in innate immunity"@en ; + rdfs:label "44ใ‹ใ‚‰47ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ—ใœใ‚“ใ‚ใ‚“ใˆใใ„ใ˜ใ‚‡ใ†"@ja-Hira, "44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ"@ja, "Other defects in innate immunity"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "44ใ‹ใ‚‰47ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€่‡ช็„ถๅ…็–ซ็•ฐๅธธ"@ja . -:2200766 - :hasNotificationNumber "25" ; - terms:description "ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200766" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๆ…ขๆ€งใฎ่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใ€ไพต่ฅฒๆ€ง็ดฐ่Œๆ„ŸๆŸ“็—‡ใ€็ญ‹ใ‚ขใƒŸใƒญใƒšใ‚ฏใƒใƒŽใƒผใ‚ทใ‚นใ‚’ไธปใช็—‡็Šถใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚HOIL1๏ผˆRBCK1๏ผ‰้บไผๅญใฎloss-of-functionๅค‰็•ฐใซใ‚ˆใฃใฆใ€็›ด้Ž–็Šถใƒฆใƒ“ใ‚ญใƒใƒณใƒชใ‚ฌใƒผใ‚ผใงใ‚ใ‚‹LUBACๅˆ†ๅญใฎๅฎ‰ๅฎšๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚ใใฎ็ตๆžœใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžใงใฏIL-1ฮฒใ‚„TNF-ฮฑๅˆบๆฟ€ใซใ‚ˆใ‚‹ๅๅฟœๆ€งใŒไฝŽไธ‹ใ—ใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ๅฏพ็…ง็š„ใซๆ‚ฃ่€…ๆœซๆขข่ก€ๅ˜ๆ ธ็ƒใงใฏใ€IL-1ฮฒๅˆบๆฟ€ใซไบข้€ฒใ—ใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใจๅ…็–ซไธๅ…จ็Šถๆ…‹ใŒๆททๅœจใ™ใ‚‹ใ“ใจใŒใ“ใฎ็–พๆ‚ฃใฎ็‰นๅพดใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใพใง3ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใŒใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏ็ขบ็ซ‹ใ•ใ‚Œใฆใ„ใชใ„ใŒใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใซๅฏพใ—ใฆใฏใ€ใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณใฎ่ฃœๅ……ใ‚„ๆŠ—่Œๅ‰คๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใ€่‡ชๅทฑ็‚Ž็—‡ๆ€ง็–พๆ‚ฃใซๅฏพใ—ใฆใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ใฎๆŠ•ไธŽใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200766" ; + dcterms:source ; a owl:Class ; - rdfs:label "HOIL-1 deficiency"@en, "HOIL1ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "HOIL-1 deficiency"@en, "HOIL1ๆฌ ๆ็—‡"@ja, "ใˆใ„ใกใŠใƒผใ‚ใ„ใˆใ‚‹1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0014389 ; skos:prefLabel "HOIL1ๆฌ ๆ็—‡"@ja . -:2200767 - :hasNotificationNumber "25" ; - terms:description "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚CXC chemokine receptor 4๏ผˆCRCR4๏ผ‰้บไผๅญใฎgain-of-function้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใ€‚WHIMใฏใ€ใ“ใฎ็–พๆ‚ฃใฎ่‡จๅบŠๅƒใฎ็‰นๅพดใงใ‚ใ‚‹Wartsใ€Hypogammaglobulinemiaใ€recurrent bacterial Infectionsใ€Myelokathexisใฎ็•ฅใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸใ‹ใ‚‰่‚บ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ€ไธญ่€ณ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€ๆญฏๅ‘จ็‚Žใชใฉใฎ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่ตท็‚Ž่Œใฏไธ€่ˆฌ็ดฐ่Œใงใ‚ใ‚Šใ€ๆŠ—็”Ÿๅ‰คใซๆฏ”่ผƒ็š„ใ‚ˆใๅๅฟœใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚10ไปฃใซใชใ‚‹ใจใ€ใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹็–ฃ่ด…ใŒๅคš็™บใ™ใ‚‹ใ‚ˆใ†ใซใชใ‚‹ใŒใ€10ไปฃไปฅๅ‰ใซใŠใ“ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€็–ฃ่ด…ใฎใชใ„ๆ‚ฃ่€…ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไป–ใฎใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹ๆ˜“ๆ„ŸๆŸ“ๆ€งใฏใชใ„ใ€‚"@ja ; - terms:identifier "2200767" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚CXC chemokine receptor 4๏ผˆCRCR4๏ผ‰้บไผๅญใฎgain-of-function้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆใŠใ“ใ‚‹ใ€‚WHIMใฏใ€ใ“ใฎ็–พๆ‚ฃใฎ่‡จๅบŠๅƒใฎ็‰นๅพดใงใ‚ใ‚‹Wartsใ€Hypogammaglobulinemiaใ€recurrent bacterial Infectionsใ€Myelokathexisใฎ็•ฅใงใ‚ใ‚‹ใ€‚ไนณๅนผๅ…ๆœŸใ‹ใ‚‰่‚บ็‚Žใ€ๅ‰ฏ้ผป่…”็‚Žใ€ไธญ่€ณ็‚Žใ€่œ‚็ชฉ็น”็‚Žใ€ๆญฏๅ‘จ็‚Žใชใฉใฎ็ดฐ่Œๆ„ŸๆŸ“็—‡ใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่ตท็‚Ž่Œใฏไธ€่ˆฌ็ดฐ่Œใงใ‚ใ‚Šใ€ๆŠ—็”Ÿๅ‰คใซๆฏ”่ผƒ็š„ใ‚ˆใๅๅฟœใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚10ไปฃใซใชใ‚‹ใจใ€ใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹็–ฃ่ด…ใŒๅคš็™บใ™ใ‚‹ใ‚ˆใ†ใซใชใ‚‹ใŒใ€10ไปฃไปฅๅ‰ใซใŠใ“ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Šใ€็–ฃ่ด…ใฎใชใ„ๆ‚ฃ่€…ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไป–ใฎใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ™ใ‚‹ๆ˜“ๆ„ŸๆŸ“ๆ€งใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200767" ; + dcterms:source ; a owl:Class ; - rdfs:label "WHIM syndrome"@en, "WHIM็—‡ๅ€™็พค"@ja ; + rdfs:label "WHIM syndrome"@en, "WHIM็—‡ๅ€™็พค"@ja, "ใ ใถใ‚‹ใˆใ„ใกใ‚ใ„ใˆใ‚€ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel " and myelokathexis"@en, "Warts"@en, "ย hypogammaglobulinemia"@en, "ย infections"@en ; - skos:closeMatch mondo:MONDO_0008674, mondo:MONDO_0015977, mondo:MONDO_0016463 ; + rdfs:subClassOf ; + skos:altLabel "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome"@en ; + skos:closeMatch obo:MONDO_0008674 ; skos:prefLabel "WHIM็—‡ๅ€™็พค"@ja . -:2200768 - :hasNotificationNumber "25" ; - terms:description "EVER1ใ‚ใ‚‹ใ„ใฏEVER2ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚ใ‚‹ใ„ใฏX้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ ดๅˆใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚EVER้บไผๅญใฏใ€่†œ่ฒซ้€š่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ไบœ้‰›ใฎhomeostasisใซ้‡่ฆใชๅƒใใ‚’ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€EVER่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใฃใฆใ‚ฆใ‚คใƒซใ‚น้บไผๅญใ€็‰นใซpro-oncogeneใงใ‚ใ‚‹E6ใ‚„E7ใฎ็™บ็พใŒไบข้€ฒใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใฏ้›ฃๆฒปๆ€งใƒปๆ’ญ็จฎๆ€งใงใ‚ใ‚‹ใ€‚้€šๅธธไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็šฎ่†š็™Œใ‚’้ซ˜็Ž‡ใซๅˆไฝตใ™ใ‚‹ใ€‚็šฎ็–น็—…ๅค‰ใฏๆ‰‹่ƒŒใ‚„้กใ‹ใ‚‰ใฏใ˜ใพใ‚Šใ€ๆฌก็ฌฌใซๅ››่‚ขใ€้ฆ–ใ€่บฏๅนนใซ้€ฒๅฑ•ใ—ใฆใ„ใใ€‚่บฏๅนนใ€้ฆ–ใ€ๅ››่‚ขใซใŠใ“ใ‚‹ใ‚‚ใฎใฏใ€ๅนณๅฆใ€็–ฃ่ด…็Šถใ€ไฝŽ่‰ฒ็ด ๆ€งใ‚ใ‚‹ใ„ใฏ่‰ฒ็ด ๆ€งไธ˜็–นใงใ‚ใ‚Šใ€่žๅˆๅ‚พๅ‘ใŒใฟใ‚‰ใ‚Œใ€ๅขƒ็•ŒใŒไธ่ฆๅ‰‡ใชๆ–‘็Šถ่ฝๅฑ‘ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๅ…‰ใฎๆšด้œฒใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใซใฏใ€็–ฃ่ด…็Šถใ‚ใ‚‹ใ„ใฏ่„‚ๆผๆ€ง่ง’ๅŒ–็Šถใฎ็—…ๅค‰ใจใชใ‚Šใ‚„ใ™ใๆ‚ชๆ€งๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚็šฎ็–นใฏฮฒใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚น๏ผˆHPV๏ผ‰ใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ€‚19็จฎ้กž็•ฐๅธธใฎใ‚ฟใ‚คใƒ—ใฎฮฒHPVใŒๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€้€šๅธธใ€่ค‡ๆ•ฐใฎ็จฎ้กžใฎใ‚ฆใ‚คใƒซใ‚นใŒๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ใ€‚HPV-5ใ€3ใ€10ใฎ้ ปๅบฆใŒ้ซ˜ใใ€HPV-5ใฏใ€ๆ‚ชๆ€งๅŒ–ใจ้–ข้€ฃใŒ้ซ˜ใ„ใ€‚ๆ‚ฃ่€…ใฎๆœซๆขข่ก€ๅ…็–ซ่ƒฝๆคœๆŸปใฏๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€T็ดฐ่ƒžๆ•ฐใฎๆธ›ๅฐ‘ใ€mitogenใ‚„HPVใซๅฏพใ™ใ‚‹ไฝŽๅๅฟœๆ€งใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200768" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "EVER1ใ‚ใ‚‹ใ„ใฏEVER2ใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใ€‚ใ—ใ‹ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚ใ‚‹ใ„ใฏX้€ฃ้Ž–ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅ ดๅˆใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚EVER้บไผๅญใฏใ€่†œ่ฒซ้€š่›‹็™ฝใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ไบœ้‰›ใฎhomeostasisใซ้‡่ฆใชๅƒใใ‚’ใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€EVER่›‹็™ฝใฎๆฌ ๆใซใ‚ˆใฃใฆใ‚ฆใ‚คใƒซใ‚น้บไผๅญใ€็‰นใซpro-oncogeneใงใ‚ใ‚‹E6ใ‚„E7ใฎ็™บ็พใŒไบข้€ฒใ™ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใฏ้›ฃๆฒปๆ€งใƒปๆ’ญ็จฎๆ€งใงใ‚ใ‚‹ใ€‚้€šๅธธไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ—ใ€็šฎ่†š็™Œใ‚’้ซ˜็Ž‡ใซๅˆไฝตใ™ใ‚‹ใ€‚็šฎ็–น็—…ๅค‰ใฏๆ‰‹่ƒŒใ‚„้กใ‹ใ‚‰ใฏใ˜ใพใ‚Šใ€ๆฌก็ฌฌใซๅ››่‚ขใ€้ฆ–ใ€่บฏๅนนใซ้€ฒๅฑ•ใ—ใฆใ„ใใ€‚่บฏๅนนใ€้ฆ–ใ€ๅ››่‚ขใซใŠใ“ใ‚‹ใ‚‚ใฎใฏใ€ๅนณๅฆใ€็–ฃ่ด…็Šถใ€ไฝŽ่‰ฒ็ด ๆ€งใ‚ใ‚‹ใ„ใฏ่‰ฒ็ด ๆ€งไธ˜็–นใงใ‚ใ‚Šใ€่žๅˆๅ‚พๅ‘ใŒใฟใ‚‰ใ‚Œใ€ๅขƒ็•ŒใŒไธ่ฆๅ‰‡ใชๆ–‘็Šถ่ฝๅฑ‘ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ—ฅๅ…‰ใฎๆšด้œฒใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใซใฏใ€็–ฃ่ด…็Šถใ‚ใ‚‹ใ„ใฏ่„‚ๆผๆ€ง่ง’ๅŒ–็Šถใฎ็—…ๅค‰ใจใชใ‚Šใ‚„ใ™ใๆ‚ชๆ€งๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚็šฎ็–นใฏฮฒใƒ’ใƒˆใƒ‘ใƒ”ใƒญใƒผใƒžใ‚ฆใ‚คใƒซใ‚น๏ผˆHPV๏ผ‰ใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ€‚19็จฎ้กž็•ฐๅธธใฎใ‚ฟใ‚คใƒ—ใฎฮฒHPVใŒๅŒๅฎšใ•ใ‚ŒใฆใŠใ‚Šใ€้€šๅธธใ€่ค‡ๆ•ฐใฎ็จฎ้กžใฎใ‚ฆใ‚คใƒซใ‚นใŒๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ใ€‚HPV-5ใ€3ใ€10ใฎ้ ปๅบฆใŒ้ซ˜ใใ€HPV-5ใฏใ€ๆ‚ชๆ€งๅŒ–ใจ้–ข้€ฃใŒ้ซ˜ใ„ใ€‚ๆ‚ฃ่€…ใฎๆœซๆขข่ก€ๅ…็–ซ่ƒฝๆคœๆŸปใฏๆญฃๅธธใฎใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€T็ดฐ่ƒžๆ•ฐใฎๆธ›ๅฐ‘ใ€mitogenใ‚„HPVใซๅฏพใ™ใ‚‹ไฝŽๅๅฟœๆ€งใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200768" ; + dcterms:source ; a owl:Class ; - rdfs:label "Epidermodysplasia verruciformis"@en, "็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009176 ; + rdfs:label "Epidermodysplasia verruciformis"@en, "ใ‚†ใ†ใœใ„ใ˜ใ‚‡ใ†ใฒใ‚‡ใ†ใฒใฏใคใ„ใใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009176 ; skos:prefLabel "็–ฃ่ด…็Šถ่กจ็šฎ็™บ่‚ฒ็•ฐๅธธ็—‡"@ja . -:2200769 - :hasNotificationNumber "25" ; - terms:description "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚"@ja ; - terms:identifier "2200769" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:identifier "NANDO:2200769" ; a owl:Class ; - rdfs:label "้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf . + rdfs:label "severe viral infection"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; + rdfs:subClassOf ; + skos:prefLabel "้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja . -:2200770 - :hasNotificationNumber "25" ; - terms:description "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚"@ja ; - terms:identifier "2200770" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฏใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆŽฅ็จฎๅพŒใซใ€้บป็–นใƒฏใ‚ฏใƒใƒณๆ„ŸๆŸ“็—‡ใŒ้‡็—‡ๅŒ–ใ—ใŸๆ‚ฃ่€…ใ‚’็™บ็ซฏ่€…ใจใ—ใฆๅŒๅฎšใ•ใ‚ŒใŸใ€‚ๅŒ่ƒžใฏ้‡็—‡ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใงๆญปไบกใ—ใฆใ„ใ‚‹ใ€‚In vitroใงใ€ๆ‚ฃ่€…ใฎ็ทš็ถญ่Šฝ็ดฐ่ƒžๅ†…ใงใฎ่‘—ใ—ใ„ใ‚ฆใ‚คใƒซใ‚นใฎๅข—ๆฎ–ใŒ่ตทใ“ใ‚Šใ€Iๅž‹IFNใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚STAT2ๆฌ ๆ็—‡ใฎ่‡จๅบŠๅƒใฏใพใ ๅ……ๅˆ†ใซใฏ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใŒใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200770" ; + dcterms:source ; a owl:Class ; - rdfs:label "STAT2 deficiency"@en, "STAT2ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "STAT2 deficiency"@en, "STAT2ๆฌ ๆ็—‡"@ja, "ใˆใ™ใฆใƒใƒผใˆใƒผใฆใƒใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0014715 ; skos:prefLabel "STAT2ๆฌ ๆ็—‡"@ja . -:2200771 - :hasNotificationNumber "25" ; - terms:description "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MCM4้บไผๅญ็•ฐๅธธใฏใ€ACTH่€ๆ€ง็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ๆ็—‡ใ€NK็ดฐ่ƒžๆฌ ๆใ€ๆˆ้•ท้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆŸ“่‰ฒไฝ“ๆ–ญ่ฃ‚ใŒ่ตทใ“ใ‚Šใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰ๅœฐๆ–นใฎ1้ƒจใฎ้›†ๅ›ฃใซๅคšใ„ใจใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚"@ja ; - terms:identifier "2200771" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ใ“ใ‚Œใพใงใ€STAT2้บไผๅญ็•ฐๅธธใ€MCM4้บไผๅญ็•ฐๅธธ็—‡ใฎ2็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚MCM4้บไผๅญ็•ฐๅธธใฏใ€ACTH่€ๆ€ง็ณ–่ณชใ‚ณใƒซใƒใ‚ณใ‚คใƒ‰ๆฌ ๆ็—‡ใ€NK็ดฐ่ƒžๆฌ ๆใ€ๆˆ้•ท้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆŸ“่‰ฒไฝ“ๆ–ญ่ฃ‚ใŒ่ตทใ“ใ‚Šใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ใ‚ขใ‚คใƒซใƒฉใƒณใƒ‰ๅœฐๆ–นใฎ1้ƒจใฎ้›†ๅ›ฃใซๅคšใ„ใจใ•ใ‚ŒใฆใŠใ‚Šใ€ๅ›ฝๅ†…ใ‹ใ‚‰ใฎๅ ฑๅ‘Šใฏใพใ ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200771" ; + dcterms:source ; a owl:Class ; - rdfs:label "MCM4 mutation"@en, "MCM4้บไผๅญ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "MCM4 mutation"@en, "MCM4้บไผๅญ็•ฐๅธธ็—‡"@ja, "ใˆใ‚€ใ—ใƒผใˆใ‚€4ใ„ใงใ‚“ใ—ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012383 ; skos:prefLabel "MCM4้บไผๅญ็•ฐๅธธ็—‡"@ja . -:2200772 - :hasNotificationNumber "25" ; - terms:description "้บไผ็š„ใช่ฆๅ› ใซใ‚ˆใฃใฆๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’่ตทใ“ใ™ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’็นฐใ‚Š่ฟ”ใ—ใ‚„ใ™ใ„ใ€‚TLR3ใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้–ข้€ฃใ™ใ‚‹ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆใ€TLR3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€UNC93B1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TRAF3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใ€TRIF๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TBK1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200772" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "้บไผ็š„ใช่ฆๅ› ใซใ‚ˆใฃใฆๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’่ตทใ“ใ™ๅ ดๅˆใงใ‚ใ‚‹ใ€‚ๅฎถๆ—ๆ€งใซใฟใ‚‰ใ‚Œใ‚‹ใ“ใจใŒๅคšใใ€ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Žใ‚’็นฐใ‚Š่ฟ”ใ—ใ‚„ใ™ใ„ใ€‚TLR3ใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้–ข้€ฃใ™ใ‚‹ๅˆ†ๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใŠใ“ใ‚‹ไบ‹ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆใ€TLR3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€UNC93B1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TRAF3๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใ€TRIF๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ๏ผ‰ใ€TBK1๏ผˆๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ๏ผ‰ใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200772" ; + dcterms:source ; a owl:Class ; - rdfs:label "Herpes simplex encephalitis"@en, "ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž"@ja ; + rdfs:label "Herpes simplex encephalitis"@en, "ใŸใ‚“ใ˜ใ‚…ใ‚“ใธใ‚‹ใบใ™ใฎใ†ใˆใ‚“"@ja-Hira, "ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012521 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012521 ; skos:prefLabel "ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚น่„ณ็‚Ž"@ja . -:2200773 - :hasNotificationNumber "25" ; - terms:description "ๅฃ่…”ๅ†…ใ‚ซใƒณใ‚ธใƒ€็—‡ใ‚„ๅค–้™ฐ้ƒจใ‚ซใƒณใ‚ธใƒ€็—‡ใชใฉใฎๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ใฎ่‡จๅบŠๅƒใจใ€ๆทฑ้ƒจ่‡“ๅ™จใฎใ‚ซใƒณใ‚ธใƒ€็—‡ใฎไธก่€…ใŒ่ตทใ“ใ‚‹็‚นใŒ็‰นๅพด็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็ณธ็Šถ่Œ็—‡ใ‚„ไฝ“้ƒจ็™ฝ็™ฌใ‚‚่ตทใ“ใ‚Šใ‚„ใ™ใใ€็ดซ่‰ฒ็™ฝ็™ฌ่Œใ‚„็ด…่‰ฒ็™ฝ็™ฌ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ•ใ‚งใ‚ชใƒ•ใ‚ฃใƒ›็œŸ่Œ็—‡็ญ‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€ไธญๆžข็ฅž็ตŒ็ณปใฎใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“็—‡ใ‚’ใŠใ“ใ—ใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚CARD9ใฏใ€่‡ช็„ถๅ…็–ซใ‚’ๆ‹…ใ†็ดฐ่ƒžใซใŠใ„ใฆใ€Dectin-1ใ‚„Dectin-2ใ€Mincle็ญ‰ใฎC-type lectin receptorใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ๅฅฝไธญ็ƒใฏCandidaใซๅฏพใ™ใ‚‹ๆฎบ่Œ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžๅ†…ใงใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€Th17็ดฐ่ƒžใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200773" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๅฃ่…”ๅ†…ใ‚ซใƒณใ‚ธใƒ€็—‡ใ‚„ๅค–้™ฐ้ƒจใ‚ซใƒณใ‚ธใƒ€็—‡ใชใฉใฎๆ…ขๆ€ง็šฎ่†š็ฒ˜่†œใ‚ซใƒณใ‚ธใƒ€็—‡ใฎ่‡จๅบŠๅƒใจใ€ๆทฑ้ƒจ่‡“ๅ™จใฎใ‚ซใƒณใ‚ธใƒ€็—‡ใฎไธก่€…ใŒ่ตทใ“ใ‚‹็‚นใŒ็‰นๅพด็š„ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็šฎ่†š็ณธ็Šถ่Œ็—‡ใ‚„ไฝ“้ƒจ็™ฝ็™ฌใ‚‚่ตทใ“ใ‚Šใ‚„ใ™ใใ€็ดซ่‰ฒ็™ฝ็™ฌ่Œใ‚„็ด…่‰ฒ็™ฝ็™ฌ่Œๆ„ŸๆŸ“็—‡ใ€ใƒ•ใ‚งใ‚ชใƒ•ใ‚ฃใƒ›็œŸ่Œ็—‡็ญ‰ใฎๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใ€ไธญๆžข็ฅž็ตŒ็ณปใฎใ‚ซใƒณใ‚ธใƒ€ๆ„ŸๆŸ“็—‡ใ‚’ใŠใ“ใ—ใ‚„ใ™ใ„ใ“ใจใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚CARD9ใฏใ€่‡ช็„ถๅ…็–ซใ‚’ๆ‹…ใ†็ดฐ่ƒžใซใŠใ„ใฆใ€Dectin-1ใ‚„Dectin-2ใ€Mincle็ญ‰ใฎC-type lectin receptorใ‹ใ‚‰ใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใซ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚ๆ‚ฃ่€…ๅฅฝไธญ็ƒใฏCandidaใซๅฏพใ™ใ‚‹ๆฎบ่Œ่ƒฝใŒ้šœๅฎณใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆจน็Šถ็ดฐ่ƒžๅ†…ใงใฎใ‚ทใ‚ฐใƒŠใƒซไผ้”ใ‚‚้šœๅฎณใ•ใ‚Œใ‚‹ใŸใ‚ใ€Th17็ดฐ่ƒžใฎๅˆ†ๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200773" ; + dcterms:source ; a owl:Class ; - rdfs:label "CARD9 deficiency"@en, "CARD9ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008905 ; + rdfs:label "CARD9 deficiency"@en, "CARD9ๆฌ ๆ็—‡"@ja, "ใ—ใƒผใˆใƒผใ‚ใƒผใ‚‹ใงใƒใƒผ9ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008905 ; skos:prefLabel "CARD9ๆฌ ๆ็—‡"@ja . -:2200774 - :hasNotificationNumber "25" ; - terms:description "ๆตทๅค–ใงๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžใซๅฏพใ™ใ‚‹่‡ช็„ถๅ…็–ซใจใ—ใฆ่ก€ๆธ…ไธญใฎapolipoprotein L-1๏ผˆAPOL1๏ผ‰ใŒ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚้€šๅธธใƒ’ใƒˆใซใฏๆ„ŸๆŸ“ใ—ใชใ„T. evansiใฎๆ„ŸๆŸ“็—‡ใ‚’่ตทใ“ใ—ใŸๆ‚ฃ่€…ใงใ€APOL1ใŒๆฌ ๆใ—ใฆใ„ใŸไบ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200774" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๆตทๅค–ใงๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใฎใฟใงใ‚ใ‚‹ใ€‚ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžใซๅฏพใ™ใ‚‹่‡ช็„ถๅ…็–ซใจใ—ใฆ่ก€ๆธ…ไธญใฎapolipoprotein L-1๏ผˆAPOL1๏ผ‰ใŒ้‡่ฆใชๅฝนๅ‰ฒใ‚’ๆžœใŸใ—ใฆใ„ใ‚‹ใ€‚้€šๅธธใƒ’ใƒˆใซใฏๆ„ŸๆŸ“ใ—ใชใ„T. evansiใฎๆ„ŸๆŸ“็—‡ใ‚’่ตทใ“ใ—ใŸๆ‚ฃ่€…ใงใ€APOL1ใŒๆฌ ๆใ—ใฆใ„ใŸไบ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200774" ; + dcterms:source ; a owl:Class ; - rdfs:label "Trypanosomiasis"@en, "ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡"@ja ; + rdfs:label "Trypanosomiasis"@en, "ใจใ‚Šใฑใฎใใƒผใพใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000940 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000940 ; skos:prefLabel "ใƒˆใƒชใƒ‘ใƒŽใ‚ฝใƒผใƒžๆ„ŸๆŸ“็—‡"@ja . -:2200775 - :hasNotificationNumber "25" ; - terms:description "ๅฟƒ็–พๆ‚ฃใชใฉใ€ไป–ใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใชใ„ใ€ๅ…ˆๅคฉ็š„ใช็„ก่„พ็—‡ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆRPSAใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฒฌไปป้บไผๅญใŒใพใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅคšใ„ใ€‚่Žข่†œๅคš็ณ–ไฝ“ใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่Œใ€็‰นใซ่‚บ็‚Ž็ƒ่Œใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถ่Œ็ญ‰ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€็‰นใซๆ•—่ก€็—‡ใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚ๆŠ—็”Ÿๅ‰คใฎไบˆ้˜ฒๅ†…ๆœใ€่‚บ็‚Ž็ƒ่Œใƒฏใ‚ฏใƒใƒณใชใฉใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใฎไบˆ้˜ฒใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200775" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ๅฟƒ็–พๆ‚ฃใชใฉใ€ไป–ใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใŒใชใ„ใ€ๅ…ˆๅคฉ็š„ใช็„ก่„พ็—‡ใงใ‚ใ‚‹ใ€‚่ฒฌไปป้บไผๅญใจใ—ใฆRPSAใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใŒใ€่ฒฌไปป้บไผๅญใŒใพใ ่งฃๆ˜Žใ•ใ‚Œใฆใ„ใชใ„ใ‚‚ใฎใ‚‚ๅคšใ„ใ€‚่Žข่†œๅคš็ณ–ไฝ“ใ‚’ๆœ‰ใ™ใ‚‹็ดฐ่Œใ€็‰นใซ่‚บ็‚Ž็ƒ่Œใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถ่Œ็ญ‰ใซๆ˜“ๆ„ŸๆŸ“ๆ€งใ‚’ๅ‘ˆใ—ใ€็‰นใซๆ•—่ก€็—‡ใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚ๆŠ—็”Ÿๅ‰คใฎไบˆ้˜ฒๅ†…ๆœใ€่‚บ็‚Ž็ƒ่Œใƒฏใ‚ฏใƒใƒณใชใฉใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใฎไบˆ้˜ฒใŒ้‡่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200775" ; + dcterms:source ; a owl:Class ; - rdfs:label "Isolatedย congenital asplenia"@en, "ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Isolated congenital asplenia"@en, "ใ“ใ‚Šใคใ›ใ„ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใฒใ—ใ‚‡ใ†"@ja-Hira, "ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010066 ; skos:prefLabel "ๅญค็ซ‹ๆ€งๅ…ˆๅคฉๆ€ง็„ก่„พ็—‡"@ja . -:2200776 - :hasNotificationNumber "27" ; - terms:description "่ฃœไฝ“ใฎๅ„ๆˆๅˆ†ใฎใ„ใšใ‚Œใ‹ใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๆฌ ๆใ™ใ‚‹่ฃœไฝ“ใฎ็จฎ้กžใซใ‚ˆใฃใฆใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซใ€้บไผๆ€ง่ก€็ฎกๆตฎ่…ซใ€็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใŠใ‚ˆใณ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏไป–ใฎใ‚ซใƒ†ใ‚ดใƒชใƒผใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใฎใงใ€ใ“ใ“ใงใฏๅ‰ฒๆ„›ใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200776" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "่ฃœไฝ“ใฎๅ„ๆˆๅˆ†ใฎใ„ใšใ‚Œใ‹ใŒๆฌ ๆใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚‹ใ€‚ๆฌ ๆใ™ใ‚‹่ฃœไฝ“ใฎ็จฎ้กžใซใ‚ˆใฃใฆใ€ๆ˜“ๆ„ŸๆŸ“ๆ€งใ€่‡ชๅทฑๅ…็–ซใ€้บไผๆ€ง่ก€็ฎกๆตฎ่…ซใ€็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็™บไฝœๆ€งๅคœ้–“่ก€่‰ฒ็ด ๅฐฟ็—‡ใŠใ‚ˆใณ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฏไป–ใฎใ‚ซใƒ†ใ‚ดใƒชใƒผใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใฎใงใ€ใ“ใ“ใงใฏๅ‰ฒๆ„›ใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200776" ; + dcterms:source ; a owl:Class ; - rdfs:label "inherited deficiency of complement system"@en, "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Inherited deficiency of complement system"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003832 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja . -:2200777 - :hasNotificationNumber "27" ; - terms:identifier "2200777" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200777" ; + dcterms:source ; a owl:Class ; - rdfs:label "C1q deficiency"@en, "C1qย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C1q deficiency"@en, "C1qย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ1ใใ‚…ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013343 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013343 ; skos:prefLabel "C1qย ๆฌ ๆ็—‡"@ja . -:2200778 - :hasNotificationNumber "27" ; - terms:identifier "2200778" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200778" ; + dcterms:source ; a owl:Class ; - rdfs:label "C1r deficiency"@en, "C1rย ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "C1r deficiency"@en, "C1rย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ1ใ‚ใƒผใ‚‹ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "C1rย ๆฌ ๆ็—‡"@ja . -:2200779 - :hasNotificationNumber "27" ; - terms:identifier "2200779" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200779" ; + dcterms:source ; a owl:Class ; - rdfs:label "C1s deficiency"@en, "C1sย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C1s deficiency"@en, "C1sย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ1ใˆใ™ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013419 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013419 ; skos:prefLabel "C1sย ๆฌ ๆ็—‡"@ja . -:2200780 - :hasNotificationNumber "27" ; - terms:identifier "2200780" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200780" ; + dcterms:source ; a owl:Class ; - rdfs:label "C4 deficiency"@en, "C4ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C4 deficiency"@en, "C4ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "C4ย ๆฌ ๆ็—‡"@ja . -:2200781 - :hasNotificationNumber "27" ; - terms:identifier "2200781" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200781" ; + dcterms:source ; a owl:Class ; - rdfs:label "C2 deficiency"@en, "C2ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C2 deficiency"@en, "C2ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009006 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009006 ; skos:prefLabel "C2ย ๆฌ ๆ็—‡"@ja . -:2200782 - :hasNotificationNumber "27" ; - terms:identifier "2200782" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200782" ; + dcterms:source ; a owl:Class ; - rdfs:label "C3 deficiency"@en, "C3ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C3 deficiency"@en, "C3ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ3ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013417 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013417 ; skos:prefLabel "C3ย ๆฌ ๆ็—‡"@ja . -:2200783 - :hasNotificationNumber "27" ; - terms:identifier "2200783" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200783" ; + dcterms:source ; a owl:Class ; - rdfs:label "C5 deficiency"@en, "C5ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C5 deficiency"@en, "C5ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ5ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012295 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012295 ; skos:prefLabel "C5ย ๆฌ ๆ็—‡"@ja . -:2200784 - :hasNotificationNumber "27" ; - terms:identifier "2200784" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200784" ; + dcterms:source ; a owl:Class ; - rdfs:label "C6 deficiency"@en, "C6ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C6 deficiency"@en, "C6ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ6ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012908 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012908 ; skos:prefLabel "C6ย ๆฌ ๆ็—‡"@ja . -:2200785 - :hasNotificationNumber "27" ; - terms:identifier "2200785" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200785" ; + dcterms:source ; a owl:Class ; - rdfs:label "C7 deficiency"@en, "C7ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C7 deficiency"@en, "C7ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ7ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012412 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012412 ; skos:prefLabel "C7ย ๆฌ ๆ็—‡"@ja . -:2200786 - :hasNotificationNumber "27" ; - terms:identifier "2200786" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200786" ; + dcterms:source ; a owl:Class ; - rdfs:label "C8 deficiency"@en, "C8ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C8 deficiency"@en, "C8ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "C8ย ๆฌ ๆ็—‡"@ja . -:2200787 - :hasNotificationNumber "27" ; - terms:identifier "2200787" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200787" ; + dcterms:source ; a owl:Class ; - rdfs:label "C9 deficiency"@en, "C9ย ๆฌ ๆ็—‡"@ja ; + rdfs:label "C9 deficiency"@en, "C9ย ๆฌ ๆ็—‡"@ja, "ใ—ใƒผ9ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013445 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013445 ; skos:prefLabel "C9ย ๆฌ ๆ็—‡"@ja . -:2200788 - :hasNotificationNumber "27" ; - terms:identifier "2200788" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200788" ; + dcterms:source ; a owl:Class ; - rdfs:label "Factor D deficiency"@en, "Factor Dย ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Factor D deficiency"@en, "Factor Dย ๆฌ ๆ็—‡"@ja, "ใตใใใŸใƒผใงใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "Dๅ› ๅญๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0013487 ; + skos:closeMatch obo:MONDO_0013487 ; skos:prefLabel "Factor Dย ๆฌ ๆ็—‡"@ja . -:2200789 - :hasNotificationNumber "27" ; - terms:identifier "2200789" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200789" ; + dcterms:source ; a owl:Class ; - rdfs:label "Properdin deficiency"@en, "Properdinย ๆฌ ๆ็—‡"@ja ; + rdfs:label "Properdin deficiency"@en, "Properdinย ๆฌ ๆ็—‡"@ja, "ใทใ‚ใฑใƒผใ˜ใ‚“ ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010713 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010713 ; skos:prefLabel "Properdinย ๆฌ ๆ็—‡"@ja . -:2200790 - :hasNotificationNumber "27" ; - terms:identifier "2200790" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200790" ; + dcterms:source ; a owl:Class ; - rdfs:label "Factor I deficiency"@en, "Factor Iย ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008737 ; + rdfs:label "Factor I deficiency"@en, "Factor Iย ๆฌ ๆ็—‡"@ja, "ใตใใใŸใƒผใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012594 ; skos:prefLabel "Factor Iย ๆฌ ๆ็—‡"@ja . -:2200791 - :hasNotificationNumber "27" ; - terms:identifier "2200791" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200791" ; + dcterms:source ; a owl:Class ; - rdfs:label "Factor H deficiency"@en, "Factor Hย ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Factor H deficiency"@en, "Factor Hย ๆฌ ๆ็—‡"@ja, "ใตใใใŸใƒผใˆใ„ใกใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Hๅ› ๅญๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0012350 ; + skos:closeMatch obo:MONDO_0012350 ; skos:prefLabel "Factor Hย ๆฌ ๆ็—‡"@ja . -:2200792 - :hasNotificationNumber "27" ; - terms:identifier "2200792" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200792" ; + dcterms:source ; a owl:Class ; - rdfs:label "3MCย ็—‡ๅ€™็พค"@ja, "Malpuech-Michels-Mingarelli-Carnevale syndrome"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "3MCย ็—‡ๅ€™็พค"@ja, "3ใˆใ‚€ใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "Malpuech-Michels-Mingarelli-Carnevale syndrome"@en ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "3MC syndrome"@en ; - skos:closeMatch mondo:MONDO_0017398 ; + skos:closeMatch obo:MONDO_0017398 ; skos:prefLabel "3MCย ็—‡ๅ€™็พค"@ja . -:2200793 - :hasNotificationNumber "27" ; - terms:identifier "2200793" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:identifier "NANDO:2200793" ; + dcterms:source ; a owl:Class ; - rdfs:label "MASP2 deficiency"@en, "MASP2ย ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013423 ; + rdfs:label "MASP2 deficiency"@en, "MASP2ย ๆฌ ๆ็—‡"@ja, "ใˆใ‚€ใˆใƒผใˆใ™ใดใƒผ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013423 ; skos:prefLabel "MASP2ย ๆฌ ๆ็—‡"@ja . -:2200794 - :hasNotificationNumber "27" ; - terms:identifier "2200794" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200794" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ficolin 3ย Deficiency"@en, "Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Ficolin 3 Deficiency"@en, "Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡"@ja, "ใตใƒใ“ใ‚Šใ‚“3ใ‹ใ‚“ใ‚Œใ‚“ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "Ficolin3ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0013467 ; + skos:closeMatch obo:MONDO_0013467 ; skos:prefLabel "Ficolin3ย ้–ข้€ฃๅ…็–ซไธๅ…จ็—‡"@ja . -:2200795 - :hasNotificationNumber "26" ; - terms:description "ๅฑ€ๆ‰€ๆ€งใง็ช็™บๆ€งใฎ่ก€็ฎกๆ€งๆตฎ่…ซใงใ‚ใ‚Šใ€้บไผๆ€งใซใŠใ“ใ‚‹ใ€‚"@ja ; - terms:identifier "2200795" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "ๅฑ€ๆ‰€ๆ€งใง็ช็™บๆ€งใฎ่ก€็ฎกๆ€งๆตฎ่…ซใงใ‚ใ‚Šใ€้บไผๆ€งใซใŠใ“ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200795" ; + dcterms:source ; a owl:Class ; - rdfs:label "hereditary angioedema"@en, "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Hereditary angioedema"@en, "ใ„ใงใ‚“ใ›ใ„ใ‘ใฃใ‹ใ‚“ใ›ใ„ใตใ—ใ‚…"@ja-Hira, "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "C1 inhibitor deficiency"@en, "C1ใ‚คใƒณใƒ’ใƒ“ใ‚ฟใƒผๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0007361, mondo:MONDO_0019623 ; + skos:closeMatch obo:MONDO_0007361, obo:MONDO_0019623 ; skos:prefLabel "้บไผๆ€ง่ก€็ฎกๆ€งๆตฎ่…ซ"@ja . -:2200796 - :hasNotificationNumber "28" ; - terms:description "ไปฅไธ‹ใฎๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ไธปใช่‡จๅบŠๅƒใ‚’็คบใ™ใ€‚Factor B๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคFactor D๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Properidin๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Factor I๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H-related protein๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคThrombomodulin๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคMASP1๏ผš 3MC๏ผˆCarnevale, Mingarelli, Malpuech, Michels๏ผ‰็—‡ๅ€™็พค๏ผˆไธก็œผ้š”้›ขใ€็œผ็ƒˆ็‹ญๅฐใ€็ƒ็Šถ็œ‰ใ€็œผ็•ฐๅฝขใ€้ ญ่“‹้ชจ็™’็€ใ€ๅฃ่“‹่ฃ‚ใ€ๅ‰ๆˆฟๆฌ ๆ๏ผ‰ๆ˜“ๆ„ŸๆŸ“ๆ€งMASP2๏ผš ๅŒ–่†ฟ่Œๆ„ŸๆŸ“็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€็‚Ž็—‡ๆ€ง่‚บ็–พๆ‚ฃCOLEC11๏ผš 3MC็—‡ๅ€™็พคCR2๏ผˆCD21๏ผ‰ๆฌ ๆ็—‡๏ผšไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CR3ๆฌ ๆ็—‡๏ผš ็™ฝ่ก€็ƒ็ฒ˜็€ไธๅ…จ็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CD46ๆฌ ๆ็—‡๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๆ„ŸๆŸ“็—‡ใ€ๅญ็™‡ๅ‰็—‡CD59ๆฌ ๆ็—‡๏ผš ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€polyneuropathyFicolin3ๆฌ ๆ็—‡๏ผšๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่†ฟ็˜"@ja ; - terms:identifier "2200796" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ไปฅไธ‹ใฎๆฌ ๆ็—‡ใŒใ‚ใ‚‹ใ€‚ไธปใช่‡จๅบŠๅƒใ‚’็คบใ™ใ€‚Factor B๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคFactor D๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Properidin๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡Factor I๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H๏ผš ใƒŠใ‚คใ‚ปใƒชใ‚ขๆ„ŸๆŸ“็—‡ใ€้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€่†œๆ€งๅข—ๆฎ–ๆ€ง็ณธ็ƒไฝ“่…Ž็‚Žใ€ๅญ็™‡ๅ‰็—‡Factor H-related protein๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคThrombomodulin๏ผš้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคMASP1๏ผš 3MC๏ผˆCarnevale, Mingarelli, Malpuech, Michels๏ผ‰็—‡ๅ€™็พค๏ผˆไธก็œผ้š”้›ขใ€็œผ็ƒˆ็‹ญๅฐใ€็ƒ็Šถ็œ‰ใ€็œผ็•ฐๅฝขใ€้ ญ่“‹้ชจ็™’็€ใ€ๅฃ่“‹่ฃ‚ใ€ๅ‰ๆˆฟๆฌ ๆ๏ผ‰ๆ˜“ๆ„ŸๆŸ“ๆ€งMASP2๏ผš ๅŒ–่†ฟ่Œๆ„ŸๆŸ“็—‡ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใ€็‚Ž็—‡ๆ€ง่‚บ็–พๆ‚ฃCOLEC11๏ผš 3MC็—‡ๅ€™็พคCR2๏ผˆCD21๏ผ‰ๆฌ ๆ็—‡๏ผšไฝŽใ‚ฌใƒณใƒžใ‚ฐใƒญใƒ–ใƒชใƒณ่ก€็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CR3ๆฌ ๆ็—‡๏ผš ็™ฝ่ก€็ƒ็ฒ˜็€ไธๅ…จ็—‡๏ผˆๆ˜“ๆ„ŸๆŸ“ๆ€ง๏ผ‰CD46ๆฌ ๆ็—‡๏ผš ้žๅ…ธๅž‹ๆบถ่ก€ๆ€งๅฐฟๆฏ’็—‡็—‡ๅ€™็พคใ€ๆ„ŸๆŸ“็—‡ใ€ๅญ็™‡ๅ‰็—‡CD59ๆฌ ๆ็—‡๏ผš ๆบถ่ก€ๆ€ง่ฒง่ก€ใ€polyneuropathyFicolin3ๆฌ ๆ็—‡๏ผšๆฐ—้“ๆ„ŸๆŸ“็—‡ใ€่†ฟ็˜"@ja ; + dcterms:identifier "NANDO:2200796" ; + dcterms:source ; a owl:Class ; - rdfs:label "49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja, "Other inherited deficiency of complement system"@en ; + rdfs:label "49ใŠใ‚ˆใณ50ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใปใŸใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja, "Other inherited deficiency of complement system"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "49ๅŠใณ50ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง่ฃœไฝ“ๆฌ ๆ็—‡"@ja . -:2200797 - :hasNotificationNumber "28" ; - terms:identifier "2200797" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200797" ; + dcterms:source ; a owl:Class ; - rdfs:label "Bๅ› ๅญๆฌ ๆ็—‡"@ja, "Factor B deficiency"@en ; + rdfs:label "Bๅ› ๅญๆฌ ๆ็—‡"@ja, "Factor B deficiency"@en, "ใณใƒผใ„ใ‚“ใ—ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Factorย Bๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0014255 ; skos:prefLabel "Bๅ› ๅญๆฌ ๆ็—‡"@ja . -:2200798 - :hasNotificationNumber "28" ; - terms:identifier "2200798" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200798" ; + dcterms:source ; a owl:Class ; - rdfs:label "Factor I deficiency"@en, "Factorย Iๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008737 ; - skos:prefLabel "Factorย Iๆฌ ๆ็—‡"@ja . + rdfs:label "Factor I deficiency"@en, "Factor Iย ๆฌ ๆ็—‡"@ja, "ใตใใใŸใƒผใ‚ใ„ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012594 ; + skos:prefLabel "Factor Iย ๆฌ ๆ็—‡"@ja . -:2200799 - :hasNotificationNumber "28" ; - terms:identifier "2200799" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200799" ; + dcterms:source ; a owl:Class ; - rdfs:label "Factor H-related proteinๆฌ ๆ็—‡"@ja, "complementย factor H related protein 1ย deficiency"@en ; + rdfs:label "Complement factor H related protein 1 deficiency"@en, "Factor H-related proteinๆฌ ๆ็—‡"@ja, "ใตใใใŸใƒผใˆใ„ใกใ‚Šใ‚Œใ„ใฆใƒใฃใฉใทใ‚ใฆใ„ใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "Factor H-related proteinๆฌ ๆ็—‡"@ja . -:2200800 - :hasNotificationNumber "28" ; - terms:identifier "2200800" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200800" ; + dcterms:source ; a owl:Class ; - rdfs:label "Thrombomodulin deficiency"@en, "Thrombomodulinๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Thrombomodulin deficiency"@en, "Thrombomodulinๆฌ ๆ็—‡"@ja, "ใจใ‚ใ‚“ใผใ‚‚ใ˜ใ‚…ใ‚Šใ‚“ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:prefLabel "Thrombomodulinๆฌ ๆ็—‡"@ja . -:2200801 - :hasNotificationNumber "28" ; - terms:identifier "2200801" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200801" ; + dcterms:source ; a owl:Class ; - rdfs:label "CD21 deficiency"@en, "CR2ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "CD21 deficiency"@en, "CR2ๆฌ ๆ็—‡"@ja, "ใ—ใƒผใ‚ใƒผใ‚‹2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CD21ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0012584, obo:MONDO_0013862 ; skos:prefLabel "CR2ๆฌ ๆ็—‡"@ja . -:2200802 - :hasNotificationNumber "28" ; - terms:identifier "2200802" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200802" ; + dcterms:source ; a owl:Class ; - rdfs:label "CR3 deficiency"@en, "CR3ๆฌ ๆ็—‡"@ja ; + rdfs:label "CR3 deficiency"@en, "CR3ๆฌ ๆ็—‡"@ja, "ใ—ใƒผใ‚ใƒผใ‚‹3ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "CR3ๆฌ ๆ็—‡"@ja . -:2200803 - :hasNotificationNumber "28" ; - terms:identifier "2200803" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200803" ; + dcterms:source ; a owl:Class ; - rdfs:label "CD46 deficiency"@en, "CD46ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "CD46 deficiency"@en, "CD46ๆฌ ๆ็—‡"@ja, "ใ—ใƒผใงใƒใƒผ46ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Membrane cofactor protein ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0013040 ; skos:prefLabel "CD46ๆฌ ๆ็—‡"@ja . -:2200804 - :hasNotificationNumber "28" ; - terms:identifier "2200804" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2200804" ; + dcterms:source ; a owl:Class ; - rdfs:label "CD59ๆฌ ๆ็—‡"@ja, "Primary CD59 deficiency"@en ; + rdfs:label "CD59ๆฌ ๆ็—‡"@ja, "Primary CD59 deficiency"@en, "ใ—ใƒผใงใƒใƒผ59ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Membrane attack complex inhibitorๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0012858 ; + skos:closeMatch obo:MONDO_0012858 ; skos:prefLabel "CD59ๆฌ ๆ็—‡"@ja . -:2200805 - :hasNotificationNumber "18" ; - terms:identifier "2200805" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:2200805" ; + dcterms:source ; a owl:Class ; - rdfs:label "hyper eosinophilic syndrome"@en, "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja ; + rdfs:label "Hyper eosinophilic syndrome"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015691 ; skos:prefLabel "ๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja . -:2200806 - :hasNotificationNumber "18" ; - terms:description "ๆœซๆขข่ก€ไธญใฎๆˆ็†Ÿๅฅฝ้…ธ็ƒใŒ1500ๅ€‹/mm3ไปฅไธŠใซๅข—ๅŠ ใ—ใ€็ต„็น”ใซๆตธๆฝคใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; - terms:identifier "2200806" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "ๆœซๆขข่ก€ไธญใฎๆˆ็†Ÿๅฅฝ้…ธ็ƒใŒ1500ๅ€‹/mm3ไปฅไธŠใซๅข—ๅŠ ใ—ใ€็ต„็น”ใซๆตธๆฝคใ—ใฆ่‡“ๅ™จ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200806" ; + dcterms:source ; a owl:Class ; - rdfs:label "hypereosinophilic syndrome"@en, "็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015691 ; + rdfs:label "Hypereosinophilic syndrome"@en, "ใจใใฏใคใ›ใ„ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใžใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015691 ; skos:prefLabel "็‰น็™บๆ€งๅฅฝ้…ธ็ƒๅข—ๅŠ ็—‡"@ja . -:2200807 - :hasNotificationNumber "18" ; - terms:description "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ๏ผˆEosinophilic gastrointestinal disorders, EGIDs๏ผ‰ใฏๅฅฝ้…ธ็ƒใฎๆถˆๅŒ–็ฎกๅฑ€ๆ‰€ใธใฎ็•ฐๅธธใช้›†็ฉใ‹ใ‚‰ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡ใซใ‚ˆใ‚Š็ต„็น”ใŒๅ‚ทๅฎณใ•ใ‚Œ๏ผŒๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้ƒจไฝใซใ‚ˆใ‚Šไธปใจใ—ใฆๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEosinophilic Esophagitis, EoE๏ผ‰๏ผŒ่ƒƒ่…ธ็‚Ž ๏ผˆEosinophilic Gastroenteritis, EGE๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใพใŸEoEใ‚’็–‘ใ‚ใ‚ŒใŸใŒใƒ—ใƒญใƒˆใƒณใƒใƒณใƒ—้˜ปๅฎณ่–ฌ๏ผˆPPI๏ผ‰ใซ่‰ฏๅฅฝใชๅๅฟœใ‚’็คบใ—ใŸๅ ดๅˆใฏproton-pump inhibitor (PPI)-responsive esophageal eosinophilia๏ผˆPPI-REE๏ผ‰ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200807" ; - terms:source ; - a owl:Class ; - rdfs:label "Eosinophilic gastrointestinal disorders"@en, "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018438 ; + + nando:hasNotificationNumber "18" ; + dcterms:description "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ๏ผˆEosinophilic gastrointestinal disorders, EGIDs๏ผ‰ใฏๅฅฝ้…ธ็ƒใฎๆถˆๅŒ–็ฎกๅฑ€ๆ‰€ใธใฎ็•ฐๅธธใช้›†็ฉใ‹ใ‚‰ๅฅฝ้…ธ็ƒๆ€ง็‚Ž็—‡ใซใ‚ˆใ‚Š็ต„็น”ใŒๅ‚ทๅฎณใ•ใ‚Œ๏ผŒๆฉŸ่ƒฝไธๅ…จใ‚’่ตทใ“ใ™็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚้ƒจไฝใซใ‚ˆใ‚Šไธปใจใ—ใฆๅฅฝ้…ธ็ƒๆ€ง้ฃŸ้“็‚Ž๏ผˆEosinophilic Esophagitis, EoE๏ผ‰๏ผŒ่ƒƒ่…ธ็‚Ž ๏ผˆEosinophilic Gastroenteritis, EGE๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใพใŸEoEใ‚’็–‘ใ‚ใ‚ŒใŸใŒใƒ—ใƒญใƒˆใƒณใƒใƒณใƒ—้˜ปๅฎณ่–ฌ๏ผˆPPI๏ผ‰ใซ่‰ฏๅฅฝใชๅๅฟœใ‚’็คบใ—ใŸๅ ดๅˆใฏproton-pump inhibitor (PPI)-responsive esophageal eosinophilia๏ผˆPPI-REE๏ผ‰ใจๅŒบๅˆฅใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200807" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Eosinophilic gastrointestinal disorders"@en, "ใ“ใ†ใ•ใ‚“ใใ‚…ใ†ใ›ใ„ใ—ใ‚‡ใ†ใ‹ใ‹ใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "EGIDs"@en ; + skos:closeMatch obo:MONDO_0018438 ; skos:prefLabel "ๅฅฝ้…ธ็ƒๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃ"@ja . -:2200808 - :hasNotificationNumber "40" ; - terms:description "้ทๅปถใ‚ใ‚‹ใ„ใฏๅ†็™บใ™ใ‚‹ไผๆŸ“ๆ€งๅ˜ๆ ธ็—‡(infectious mononucleosis;IM)ๆง˜็—‡็Šถใ‚’็คบใ—ใ€ๆœซๆขข่ก€ใŠใ‚ˆใณ็—…ๅค‰็ต„็น”ใซ้ซ˜ใƒฌใƒ™ใƒซใฎEBV DNAใŒๆคœๅ‡บใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚EBVๆ„ŸๆŸ“Tใ‚ใ‚‹ใ„ใฏNK็ดฐ่ƒžใŒใƒขใƒŽใ‚ฏใƒญใƒผใƒŠใƒซใ‚ใ‚‹ใ„ใฏใ‚ชใƒชใ‚ดใ‚ฏใƒญใƒผใƒŠใƒซใซๅข—ๆฎ–ใ—้ซ˜ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็—‡็Šถใจ้šœๅฎณ่‡“ๅ™จใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200808" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "้ทๅปถใ‚ใ‚‹ใ„ใฏๅ†็™บใ™ใ‚‹ไผๆŸ“ๆ€งๅ˜ๆ ธ็—‡(infectious mononucleosis;IM)ๆง˜็—‡็Šถใ‚’็คบใ—ใ€ๆœซๆขข่ก€ใŠใ‚ˆใณ็—…ๅค‰็ต„็น”ใซ้ซ˜ใƒฌใƒ™ใƒซใฎEBV DNAใŒๆคœๅ‡บใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚EBVๆ„ŸๆŸ“Tใ‚ใ‚‹ใ„ใฏNK็ดฐ่ƒžใŒใƒขใƒŽใ‚ฏใƒญใƒผใƒŠใƒซใ‚ใ‚‹ใ„ใฏใ‚ชใƒชใ‚ดใ‚ฏใƒญใƒผใƒŠใƒซใซๅข—ๆฎ–ใ—้ซ˜ใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณ่ก€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็—‡็Šถใจ้šœๅฎณ่‡“ๅ™จใฏๅคšๅฒใซใ‚ใŸใ‚Šใ€ไบˆๅพŒไธ่‰ฏใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200808" ; + dcterms:source ; a owl:Class ; - rdfs:label "chronic active EB virus infection"@en, "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; + rdfs:label "Chronic active EB virus infection"@en, "ใพใ‚“ใ›ใ„ใ‹ใคใฉใ†ใ›ใ„ใ„ใƒผใณใƒผใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "CAEBV"@en ; - skos:closeMatch mondo:MONDO_0009194 ; + skos:closeMatch obo:MONDO_0009194 ; skos:prefLabel "ๆ…ขๆ€งๆดปๅ‹•ๆ€งEBใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja . -:2200809 - :hasNotificationNumber "19" ; - terms:description "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค๏ผˆAIDS๏ผ‰ใฏใ€ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ€ๅŽš็”ŸๅŠดๅƒ็œใฏใ€ใ€Œใƒฌใƒˆใƒญใ‚ฆใ‚คใƒซใ‚นใฎไธ€็จฎใงใ‚ใ‚‹ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น๏ผˆhuman immunodeficiency virus๏ผ›HIV๏ผ‰ใฎๆ„ŸๆŸ“ใซใ‚ˆใฃใฆๅ…็–ซไธๅ…จใŒ็”Ÿใ˜ใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒๅˆไฝตใ—ใŸ็Šถๆ…‹ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚HIVใซๆ„ŸๆŸ“ใ—ใŸๅพŒใ€CD4้™ฝๆ€งใƒชใƒณใƒ‘็ƒๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€็„ก็—‡ๅ€™ๆ€งใฎๆ™‚ๆœŸ๏ผˆ็„กๆฒป็™‚ใง็ด„10ๅนด๏ผ‰ใ‚’็ตŒใฆ้ซ˜ๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใซ้™ฅใ‚Šใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒ็”Ÿใ˜ใฆใใ‚‹ใ€‚"@ja ; - terms:identifier "2200809" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค๏ผˆAIDS๏ผ‰ใฏใ€ใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ใงใ€ๅŽš็”ŸๅŠดๅƒ็œใฏใ€ใ€Œใƒฌใƒˆใƒญใ‚ฆใ‚คใƒซใ‚นใฎไธ€็จฎใงใ‚ใ‚‹ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น๏ผˆhuman immunodeficiency virus๏ผ›HIV๏ผ‰ใฎๆ„ŸๆŸ“ใซใ‚ˆใฃใฆๅ…็–ซไธๅ…จใŒ็”Ÿใ˜ใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒๅˆไฝตใ—ใŸ็Šถๆ…‹ใ€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚HIVใซๆ„ŸๆŸ“ใ—ใŸๅพŒใ€CD4้™ฝๆ€งใƒชใƒณใƒ‘็ƒๆ•ฐใŒๆธ›ๅฐ‘ใ—ใ€็„ก็—‡ๅ€™ๆ€งใฎๆ™‚ๆœŸ๏ผˆ็„กๆฒป็™‚ใง็ด„10ๅนด๏ผ‰ใ‚’็ตŒใฆ้ซ˜ๅบฆใฎๅ…็–ซไธๅ…จ็—‡ใซ้™ฅใ‚Šใ€ๆ—ฅๅ’Œ่ฆ‹ๆ„ŸๆŸ“็—‡ใ‚„ๆ‚ชๆ€ง่…ซ็˜ใŒ็”Ÿใ˜ใฆใใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200809" ; + dcterms:source ; a owl:Class ; - rdfs:label "acquired immune deficiency syndrome"@en, "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:label "Acquired immune deficiency syndrome"@en, "ใ“ใ†ใฆใ‚“ใ›ใ„ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0012268 ; + rdfs:subClassOf ; + skos:altLabel "AIDS"@en ; + skos:closeMatch obo:MONDO_0012268 ; skos:prefLabel "ๅพŒๅคฉๆ€งๅ…็–ซไธๅ…จ็—‡ๅ€™็พค"@ja . -:2200810 - :hasNotificationNumber "19" ; - terms:identifier "2200810" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:2200810" ; + dcterms:source ; a owl:Class ; - rdfs:label "HIV infection"@en, "ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005109 ; + rdfs:label "HIV infection"@en, "ใฒใจใ‚ใ‚“ใˆใใตใœใ‚“ใ†ใ„ใ‚‹ใ™"@ja-Hira, "ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Human immunodeficiency virus infection"@en ; + skos:closeMatch obo:MONDO_0005109 ; skos:prefLabel "ใƒ’ใƒˆๅ…็–ซไธๅ…จใ‚ฆใ‚คใƒซใ‚น"@ja . -:2200811 - :hasNotificationNumber "20" ; - terms:description "ๅพŒๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š่ตทใใ‚‹ๅ…็–ซไธๅ…จ็—‡ใจใ€ๅพŒๅคฉ็š„ใซ็”ฃ็”Ÿใ•ใ‚Œใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใฏใ€ไฝ“็ดฐ่ƒžใซใŠใ‘ใ‚‹้บไผๅญๅค‰็•ฐใฎ่จผๆ˜Žใจใ€่‡ชๅทฑๆŠ—ไฝ“ใฎๆธฌๅฎšใซใ‚ˆใ‚‹ใ€‚ใ“ใ‚Œใพใงใซไปฅไธ‹ใฎ็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200811" ; - terms:source ; + + nando:hasNotificationNumber "20" ; + dcterms:description "ๅพŒๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Š่ตทใใ‚‹ๅ…็–ซไธๅ…จ็—‡ใจใ€ๅพŒๅคฉ็š„ใซ็”ฃ็”Ÿใ•ใ‚Œใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จใŒใ‚ใ‚‹ใ€‚่จบๆ–ญใฏใ€ไฝ“็ดฐ่ƒžใซใŠใ‘ใ‚‹้บไผๅญๅค‰็•ฐใฎ่จผๆ˜Žใจใ€่‡ชๅทฑๆŠ—ไฝ“ใฎๆธฌๅฎšใซใ‚ˆใ‚‹ใ€‚ใ“ใ‚Œใพใงใซไปฅไธ‹ใฎ็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200811" ; + dcterms:source ; a owl:Class ; - rdfs:label "Phenocopies of primary immunodeficiency"@en, "ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡"@ja ; + rdfs:label "Phenocopies of primary immunodeficiency"@en, "ใ“ใ†ใฆใ‚“ใฆใใชใ‚ใ‚“ใˆใใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใซใ‚ˆใ‚‹ใ‚ใ‚“ใˆใใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅพŒๅคฉ็š„ใชๅ…็–ซ็ณป้šœๅฎณใซใ‚ˆใ‚‹ๅ…็–ซไธๅ…จ็—‡"@ja . -:2200812 - :hasNotificationNumber "39" ; - terms:description "ๆ…ขๆ€งGVHDใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใฎๆ‚ฃ่€…ใซ็™บ็—‡ใ—ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใซ้กžไผผใ—ใŸๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ๅ†็™บใƒป็”Ÿๅญ˜็Ž‡ใจ็”Ÿๆดปใฎ่ณชใซๅคงใใ้–ข้€ฃใ™ใ‚‹ๆ™ฉๆœŸๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ๆ…ขๆ€งGVHDใซ็‰นๅพด็š„ใช่‡จๅบŠๆ‰€่ฆ‹ใซๅŸบใฅใ„ใŸNIH่จบๆ–ญๅŸบๆบ–ใ‚„้‡็—‡ๅบฆๅˆคๅฎšๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œใ€ๆ—ฅๆœฌ้€ ่ก€็งปๆคๅญฆไผšใงใฏ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ(GVHD)ใŒไฝœๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200812" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "ๆ…ขๆ€งGVHDใฏ้€ ่ก€ๅนน็ดฐ่ƒž็งปๆคๅพŒใฎๆ‚ฃ่€…ใซ็™บ็—‡ใ—ใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃใซ้กžไผผใ—ใŸๅคšๆง˜ใช็—‡็Šถใ‚’่ชใ‚ใ‚‹ใ€‚ๅ†็™บใƒป็”Ÿๅญ˜็Ž‡ใจ็”Ÿๆดปใฎ่ณชใซๅคงใใ้–ข้€ฃใ™ใ‚‹ๆ™ฉๆœŸๅˆไฝต็—‡ใงใ‚ใ‚‹ใ€‚ๆ…ขๆ€งGVHDใซ็‰นๅพด็š„ใช่‡จๅบŠๆ‰€่ฆ‹ใซๅŸบใฅใ„ใŸNIH่จบๆ–ญๅŸบๆบ–ใ‚„้‡็—‡ๅบฆๅˆคๅฎšๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œใ€ๆ—ฅๆœฌ้€ ่ก€็งปๆคๅญฆไผšใงใฏ้€ ่ก€็ดฐ่ƒž็งปๆคใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณ(GVHD)ใŒไฝœๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200812" ; + dcterms:source ; a owl:Class ; - rdfs:label "chronic graft-versus-host disease"@en, "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…"@ja ; + rdfs:label "Chronic graft-versus-host disease"@en, "ใพใ‚“ใ›ใ„ใ„ใ—ใ‚‡ใใธใ‚“ใŸใ„ใ—ใ‚…ใใ—ใ‚…ใณใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "chronic GVHD"@en ; - skos:closeMatch mondo:MONDO_0020547 ; + rdfs:subClassOf ; + skos:altLabel "Chronic GVHD"@en ; + skos:closeMatch obo:MONDO_0020547 ; skos:prefLabel "ๆ…ขๆ€ง็งปๆค็‰‡ๅฏพๅฎฟไธป็—…"@ja . -:2200813 - :hasNotificationNumber "38" ; - terms:description "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใซใ‚ˆใฃใฆ้ ญ่“‹้ชจใซๆฌ ๆใŒ็”Ÿใ˜ใŸใ‚‚ใฎใ‚’ไบŒๅˆ†้ ญ่“‹ใจใ„ใ„ใ€ใ“ใฎ้ ญ่“‹ๆฌ ๆ้ƒจใ‹ใ‚‰้ ญ่“‹ๅ†…ๅฎนใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ—ๅšข่ƒžใ‚’ๅฝขๆˆใ—ใŸใ‚‚ใฎใ‚’่„ณ็˜คใจๅ‘ผใถใ€‚่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ซ„่†œ่„ณ็˜ค๏ผˆmeningoencephalocle๏ผ‰ใ€่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใš้ซ„่†œใ‚„้ซ„ๆถฒใฎใฟใงใ‚ใ‚Œใฐ้ซ„่†œ็˜ค๏ผˆcranial meningocele๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็ต„็น”ๅญฆ็š„ใชๆคœ็ดขใงใฏๅพŒ่€…ใงใ‚‚็˜คๅ†…ใซใฏ่„ณ็ต„็น”ใ‚’่ชใ‚ใ‚‹ใŸใ‚ใ€็ต„็น”ๅญฆ็š„ใซใฏๅŽณๅฏ†ใซ้‘‘ๅˆฅใงใใชใ„ใ€‚้ ญ่“‹ใฎๆฌ ๆใฏๆญฃไธญ้ƒจใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚็ด„90%ใฏ้ ญ่“‹ๅ††่“‹้ƒจใ€ๆฎ‹ใ‚Š็ด„10 %ใฏ้ ญ่“‹ๅบ•้ƒจใซ็™บ็”Ÿใ—ใ€ๅ…จไฝ“ใฎ2/3ใฏๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ—ใ€ๅ††่“‹้ƒจใ‚„้ผป่…”ๅ‰้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใฏๅค–่กจไธŠใง็˜คใ‚’่ชใ‚ใ‚„ใ™ใ„ใŒใ€็ฏฉ้ชจๆดžใ€่ถๅฝข้ชจๆดž้ƒจใชใฉ้ผป่…”ใ‚„ๅ‰ฏ้ผป่…”ๅ†…ใซ็™บ็”Ÿใ™ใ‚‹ใ‚‚ใฎใฏๅค–่กจไธŠใซใฏ็˜คใ‚’่ชใ‚ใชใ„ใ€‚ใพใ‚ŒใซๅพŒ้ ญใƒป้ šๆคŽ็งป่กŒ้ƒจใซ็™บ็”Ÿใ—้ šๆคŽๆคŽๅผ“ๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บ๏ผˆๅพŒ้ ญ้ƒจใจ่ƒŒ้ƒจใŒ็™’ๅˆใ—ใฆ้ š้ƒจใŒ่ƒŒๅดใซ้Žไผธๅฑ•ใ™ใ‚‹๏ผ‰ใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝข๏ผˆ่„ณๅนนใ‚„ๅฐ่„ณใฎ่„ฑๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใซใฏใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆ๏ผˆDandy-Walker็—‡ๅ€™็พค๏ผ‰ใ‚„ไป–ใฎ่„ณๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ‚„ใ™ใใ€่„ณ็ต„็น”ใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ™ใ‚‹ใŸใ‚ๅฐ้ ญ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€็ด„30%ใฎไพ‹ใซๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่„ณใฎๅฝขๆˆ็•ฐๅธธใ€ๅคงใใช่„ณ็ต„็น”ใฎ่„ฑๅ‡บใ€ๆฐด้ ญ็—‡ใชใฉใฏ็™บ้”ใ‚„็Ÿฅ่ƒฝ้ขใงใฎไบˆๅพŒไธ่‰ฏๅ› ๅญใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅบ•้ƒจ่„ณ็˜คใงใฏใ€้–‰ๅกžๆ€งใฎๅ‘ผๅธ้šœๅฎณใ€้ซ„ๆถฒๆผใซใ‚ˆใ‚‹ๅๅพฉๆ€งใฎ้ซ„่†œ็‚Žใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็˜คใŒ็ ดใ‚Œใฆ็ดฐ่Œๆ„ŸๆŸ“ใ‚’ใใŸใ™ใŸใ‚ๅค–็ง‘็š„ใซ็˜คใ‚’ไฟฎๅพฉใ—ใ€ๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚Œใฐ้ซ„ๆถฒใ‚ทใƒฃใƒณใƒˆใ‚’ๆ–ฝ่กŒใ—ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚Œใฐ่–ฌ็‰ฉๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝขใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏๅ›ฝใ€ๅœฐๅŸŸใซใ‚ˆใฃใฆๅคงใใ็•ฐใชใ‚Šใ€ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏ้ซ˜ใใชใใ€1๏ฝž2/10000ใจ่„Š้ซ„้ซ„่†œ็˜คใฎ1/5๏ฝž1/10ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไพ‹ใฏๅฅณๅ…ใซๅคšใ„ใ€‚้ซ„่†œ่„ณ็˜คใฎ็™บ็”ŸๆฉŸๅบใฏๅพ“ๆฅ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใจ่€ƒใˆใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ๅพŒใซ่„ณ็ต„็น”ใฎๅ‘จๅ›ฒใฎ้–“่‘‰็ต„็น”ใฎ็™บ็”Ÿ็•ฐๅธธใŒๅŽŸๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ๅพ“ๆฅใฎ่€ƒใˆใซๅพ“ใ„็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ็–พๆ‚ฃใฎ็ฏ„็–‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200813" ; - terms:source ; + + nando:hasNotificationNumber "38" ; + dcterms:description "็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใซใ‚ˆใฃใฆ้ ญ่“‹้ชจใซๆฌ ๆใŒ็”Ÿใ˜ใŸใ‚‚ใฎใ‚’ไบŒๅˆ†้ ญ่“‹ใจใ„ใ„ใ€ใ“ใฎ้ ญ่“‹ๆฌ ๆ้ƒจใ‹ใ‚‰้ ญ่“‹ๅ†…ๅฎนใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ—ๅšข่ƒžใ‚’ๅฝขๆˆใ—ใŸใ‚‚ใฎใ‚’่„ณ็˜คใจๅ‘ผใถใ€‚่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ‚‚ใฎใ‚’้ซ„่†œ่„ณ็˜ค๏ผˆmeningoencephalocle๏ผ‰ใ€่„ฑๅ‡บใ—ใŸๅ†…ๅฎน็‰ฉใซ่„ณ็ต„็น”ใŒๅซใพใ‚Œใš้ซ„่†œใ‚„้ซ„ๆถฒใฎใฟใงใ‚ใ‚Œใฐ้ซ„่†œ็˜ค๏ผˆcranial meningocele๏ผ‰ใจๅˆ†้กžใ™ใ‚‹ใ€‚ใ—ใ‹ใ—ใ€็ต„็น”ๅญฆ็š„ใชๆคœ็ดขใงใฏๅพŒ่€…ใงใ‚‚็˜คๅ†…ใซใฏ่„ณ็ต„็น”ใ‚’่ชใ‚ใ‚‹ใŸใ‚ใ€็ต„็น”ๅญฆ็š„ใซใฏๅŽณๅฏ†ใซ้‘‘ๅˆฅใงใใชใ„ใ€‚้ ญ่“‹ใฎๆฌ ๆใฏๆญฃไธญ้ƒจใซ็™บ็”Ÿใ—ใ‚„ใ™ใ„ใ€‚็ด„90%ใฏ้ ญ่“‹ๅ††่“‹้ƒจใ€ๆฎ‹ใ‚Š็ด„10 %ใฏ้ ญ่“‹ๅบ•้ƒจใซ็™บ็”Ÿใ—ใ€ๅ…จไฝ“ใฎ2/3ใฏๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ—ใ€ๅ††่“‹้ƒจใ‚„้ผป่…”ๅ‰้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใฏๅค–่กจไธŠใง็˜คใ‚’่ชใ‚ใ‚„ใ™ใ„ใŒใ€็ฏฉ้ชจๆดžใ€่ถๅฝข้ชจๆดž้ƒจใชใฉ้ผป่…”ใ‚„ๅ‰ฏ้ผป่…”ๅ†…ใซ็™บ็”Ÿใ™ใ‚‹ใ‚‚ใฎใฏๅค–่กจไธŠใซใฏ็˜คใ‚’่ชใ‚ใชใ„ใ€‚ใพใ‚ŒใซๅพŒ้ ญใƒป้ šๆคŽ็งป่กŒ้ƒจใซ็™บ็”Ÿใ—้ šๆคŽๆคŽๅผ“ๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บ๏ผˆๅพŒ้ ญ้ƒจใจ่ƒŒ้ƒจใŒ็™’ๅˆใ—ใฆ้ š้ƒจใŒ่ƒŒๅดใซ้Žไผธๅฑ•ใ™ใ‚‹๏ผ‰ใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝข๏ผˆ่„ณๅนนใ‚„ๅฐ่„ณใฎ่„ฑๅ‡บ๏ผ‰ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹้ซ„่†œ่„ณ็˜คใซใฏใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆ๏ผˆDandy-Walker็—‡ๅ€™็พค๏ผ‰ใ‚„ไป–ใฎ่„ณๅฝขๆˆ็•ฐๅธธใ‚’ๅˆไฝตใ—ใ‚„ใ™ใใ€่„ณ็ต„็น”ใฎไธ€้ƒจใŒ้ ญ่“‹ๅค–ใธ่„ฑๅ‡บใ™ใ‚‹ใŸใ‚ๅฐ้ ญ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ไพ‹ใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€็ด„30%ใฎไพ‹ใซๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่„ณใฎๅฝขๆˆ็•ฐๅธธใ€ๅคงใใช่„ณ็ต„็น”ใฎ่„ฑๅ‡บใ€ๆฐด้ ญ็—‡ใชใฉใฏ็™บ้”ใ‚„็Ÿฅ่ƒฝ้ขใงใฎไบˆๅพŒไธ่‰ฏๅ› ๅญใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅบ•้ƒจ่„ณ็˜คใงใฏใ€้–‰ๅกžๆ€งใฎๅ‘ผๅธ้šœๅฎณใ€้ซ„ๆถฒๆผใซใ‚ˆใ‚‹ๅๅพฉๆ€งใฎ้ซ„่†œ็‚Žใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็˜คใŒ็ ดใ‚Œใฆ็ดฐ่Œๆ„ŸๆŸ“ใ‚’ใใŸใ™ใŸใ‚ๅค–็ง‘็š„ใซ็˜คใ‚’ไฟฎๅพฉใ—ใ€ๆฐด้ ญ็—‡ใ‚’ๅˆไฝตใ™ใ‚Œใฐ้ซ„ๆถฒใ‚ทใƒฃใƒณใƒˆใ‚’ๆ–ฝ่กŒใ—ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚’ๅˆไฝตใ™ใ‚Œใฐ่–ฌ็‰ฉๆฒป็™‚ใ‚’่กŒใ†ใ€‚ๅพŒ้ ญๅญ”่„ณ่„ฑๅ‡บใ‚„Chiari IIIๅž‹ๅฅ‡ๅฝขใฎ็”Ÿๅ‘ฝไบˆๅพŒใฏไธ่‰ฏใงใ‚ใ‚‹ใ€‚็™บ็”Ÿ้ ปๅบฆใฏๅ›ฝใ€ๅœฐๅŸŸใซใ‚ˆใฃใฆๅคงใใ็•ฐใชใ‚Šใ€ๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏ้ซ˜ใใชใใ€1๏ฝž2/10000ใจ่„Š้ซ„้ซ„่†œ็˜คใฎ1/5๏ฝž1/10ใงใ‚ใ‚‹ใ€‚ๅพŒ้ ญ้ƒจใซ็™บ็”Ÿใ™ใ‚‹ไพ‹ใฏๅฅณๅ…ใซๅคšใ„ใ€‚้ซ„่†œ่„ณ็˜คใฎ็™บ็”ŸๆฉŸๅบใฏๅพ“ๆฅ็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใจ่€ƒใˆใ‚‰ใ‚ŒใฆใใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ๅพŒใซ่„ณ็ต„็น”ใฎๅ‘จๅ›ฒใฎ้–“่‘‰็ต„็น”ใฎ็™บ็”Ÿ็•ฐๅธธใŒๅŽŸๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚ใ—ใ‹ใ—ใชใŒใ‚‰ใ€ๅพ“ๆฅใฎ่€ƒใˆใซๅพ“ใ„็ฅž็ตŒ็ฎก้–‰้Ž–้šœๅฎณใฎ็–พๆ‚ฃใฎ็ฏ„็–‡ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200813" ; + dcterms:source ; a owl:Class ; - rdfs:label "meningoencephalocele"@en, "้ซ„่†œ่„ณ็˜ค"@ja ; + rdfs:label "Meningoencephalocele"@en, "ใšใ„ใพใใฎใ†ใ‚Šใ‚…ใ†"@ja-Hira, "้ซ„่†œ่„ณ็˜ค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017079 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017079 ; skos:prefLabel "้ซ„่†œ่„ณ็˜ค"@ja . -:2200814 - :hasNotificationNumber "39" ; - terms:description "่„Š้ซ„้ซ„่†œ็˜คใฏไบŒๅˆ†้ ญ่“‹ใ‚„็„ก่„ณ็—‡ใชใฉใจใจใ‚‚ใซ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใซๅŒ…ๆ‹ฌใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ™๏ผŽใƒ’ใƒˆใฎ่ƒŽๅ…ใงใฏ๏ผŒใใฎ่ƒŒๅดใซใ‚ใ‚‹ๅค–่ƒš่‘‰ใ‹ใ‚‰็ฅž็ตŒ็ฎกใŒๅฝขๆˆใ•ใ‚Œ๏ผŒใ“ใ‚ŒใŒ่„ณใƒป่„Š้ซ„ใธใจ็™บ้”ใ—ใฆใ„ใใพใ™๏ผŽ็ฅž็ตŒ็ฎกใŒๅฎŒๅ…จใช็ฎก็Šถๆง‹้€ ใซใชใ‚‹ใฎใฏๅ—็ฒพๅพŒ28ๆ—ฅใ”ใ‚ใจใ•ใ‚Œใฆใ„ใพใ™ใŒ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใŒ่ตทใ“ใ‚Šใ€่„Š้ซ„้ซ„่†œ็˜คใŒ็™บ็”Ÿใ—ใพใ™๏ผŽ๏ผˆๅ›ณ1๏ผ‰่„Š้ซ„้ซ„่†œ็˜คใฎๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€40ๅนดๅ‰ใฏ0.01~0.02%ใงใ—ใŸใŒๆœ€่ฟ‘ใงใฏ0.03~0.04%ใจๅข—ๅŠ ใ—ใฆใ„ใพใ™ใ€‚็ฌฌ1ๅญใŒ่„Š้ซ„้ซ„่†œ็˜คใงใ‚ใ‚‹ใจใ€็ฌฌ2ๅญใซใŠใ‘ใ‚‹ๆœฌ็—‡ใฎ็™บ็”Ÿ็Ž‡ใฏ็ด„5๏ผ…ใจใ•ใ‚ŒใฆใŠใ‚Š๏ผŒใใฎ็™บ็”Ÿใซใฏไฝ•ใ‚‰ใ‹ใฎ้บไผๅ› ๅญใฎ้–ขไธŽใŒๆŽจๅฏŸใ•ใ‚Œใพใ™๏ผŽ1) ไธ€ๆ–นใง๏ผŒๅฆŠๅจ ๅˆๆœŸใฎๅฆŠๅฉฆใซ่‘‰้…ธใ‚’ๆŠ•ไธŽใ™ใ‚‹ใจ๏ผŒไบŒๅˆ†่„ŠๆคŽใ‚’ๅซใ‚€็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็ด„70๏ผ…ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’่ปฝๆธ›ใงใใ‚‹ไบ‹ๅฎŸใ‹ใ‚‰๏ผŒๆฏไฝ“ใฎๆ „้คŠ็Šถๆ…‹ใƒปๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ•ใ‚‰ใซใฏๅ‚ฌๅฅ‡ๅฝขๆ€ง็‰ฉ่ณชใชใฉๅค–็š„่ฆๅ› ใฎ้–ขไธŽใ‚‚้‡่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™๏ผŽ2) ๅŽš็”ŸๅŠดๅƒ็œใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซใ€ๅฅๅธธใชๅฅณๆ€งใงใ‚‚ไธ่ถณใ—ใŒใกใช่‘‰้…ธใฎๆ‘‚ๅ–(0.4mg/day)ใ‚’ๅ‹งใ‚ใฆใ„ใพใ™ใ€‚"@ja ; - terms:identifier "2200814" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "่„Š้ซ„้ซ„่†œ็˜คใฏไบŒๅˆ†้ ญ่“‹ใ‚„็„ก่„ณ็—‡ใชใฉใจใจใ‚‚ใซ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใซๅŒ…ๆ‹ฌใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ™๏ผŽใƒ’ใƒˆใฎ่ƒŽๅ…ใงใฏ๏ผŒใใฎ่ƒŒๅดใซใ‚ใ‚‹ๅค–่ƒš่‘‰ใ‹ใ‚‰็ฅž็ตŒ็ฎกใŒๅฝขๆˆใ•ใ‚Œ๏ผŒใ“ใ‚ŒใŒ่„ณใƒป่„Š้ซ„ใธใจ็™บ้”ใ—ใฆใ„ใใพใ™๏ผŽ็ฅž็ตŒ็ฎกใŒๅฎŒๅ…จใช็ฎก็Šถๆง‹้€ ใซใชใ‚‹ใฎใฏๅ—็ฒพๅพŒ28ๆ—ฅใ”ใ‚ใจใ•ใ‚Œใฆใ„ใพใ™ใŒ๏ผŒไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š็ฅž็ตŒ็ฎกใฎ้–‰้Ž–ไธๅ…จใŒ่ตทใ“ใ‚Šใ€่„Š้ซ„้ซ„่†œ็˜คใŒ็™บ็”Ÿใ—ใพใ™๏ผŽ๏ผˆๅ›ณ1๏ผ‰่„Š้ซ„้ซ„่†œ็˜คใฎๆ—ฅๆœฌใงใฎ็™บ็”Ÿ้ ปๅบฆใฏใ€40ๅนดๅ‰ใฏ0.01~0.02%ใงใ—ใŸใŒๆœ€่ฟ‘ใงใฏ0.03~0.04%ใจๅข—ๅŠ ใ—ใฆใ„ใพใ™ใ€‚็ฌฌ1ๅญใŒ่„Š้ซ„้ซ„่†œ็˜คใงใ‚ใ‚‹ใจใ€็ฌฌ2ๅญใซใŠใ‘ใ‚‹ๆœฌ็—‡ใฎ็™บ็”Ÿ็Ž‡ใฏ็ด„5๏ผ…ใจใ•ใ‚ŒใฆใŠใ‚Š๏ผŒใใฎ็™บ็”Ÿใซใฏไฝ•ใ‚‰ใ‹ใฎ้บไผๅ› ๅญใฎ้–ขไธŽใŒๆŽจๅฏŸใ•ใ‚Œใพใ™๏ผŽ1) ไธ€ๆ–นใง๏ผŒๅฆŠๅจ ๅˆๆœŸใฎๅฆŠๅฉฆใซ่‘‰้…ธใ‚’ๆŠ•ไธŽใ™ใ‚‹ใจ๏ผŒไบŒๅˆ†่„ŠๆคŽใ‚’ๅซใ‚€็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็ด„70๏ผ…ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’่ปฝๆธ›ใงใใ‚‹ไบ‹ๅฎŸใ‹ใ‚‰๏ผŒๆฏไฝ“ใฎๆ „้คŠ็Šถๆ…‹ใƒปๅ†…ๅˆ†ๆณŒ็•ฐๅธธใ•ใ‚‰ใซใฏๅ‚ฌๅฅ‡ๅฝขๆ€ง็‰ฉ่ณชใชใฉๅค–็š„่ฆๅ› ใฎ้–ขไธŽใ‚‚้‡่ฆใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™๏ผŽ2) ๅŽš็”ŸๅŠดๅƒ็œใฏ็ฅž็ตŒ็ฎก้–‰้Ž–ไธๅ…จ็—‡ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใ‚’ไฝŽไธ‹ใ•ใ›ใ‚‹ใŸใ‚ใซใ€ๅฅๅธธใชๅฅณๆ€งใงใ‚‚ไธ่ถณใ—ใŒใกใช่‘‰้…ธใฎๆ‘‚ๅ–(0.4mg/day)ใ‚’ๅ‹งใ‚ใฆใ„ใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200814" ; + dcterms:source ; a owl:Class ; - rdfs:label "myelomeningocele"@en, "่„Š้ซ„้ซ„่†œ็˜ค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017069, mondo:MONDO_0019773 ; + rdfs:label "Myelomeningocele"@en, "ใ›ใใšใ„ใšใ„ใพใใ‚Šใ‚…ใ†"@ja-Hira, "่„Š้ซ„้ซ„่†œ็˜ค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017069, obo:MONDO_0019773 ; skos:prefLabel "่„Š้ซ„้ซ„่†œ็˜ค"@ja . -:2200815 - :hasNotificationNumber "37" ; - terms:description "่„Š้ซ„่„‚่‚ช่…ซใฏๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽใ‚’ไปฃ่กจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆๅฅ‡ๅฝข๏ผ‰ใงใ‚ใ‚‹๏ผŽ็šฎ่†šๅค–่ƒš่‘‰ใจ็ฅž็ตŒๅค–่ƒš่‘‰ใฎๅˆ†้›ข้šœๅฎณใซใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€ ็šฎไธ‹ใจ้€ฃ็ถšใ—ใŸ่„‚่‚ช็ต„็น”ใŒ่„ŠๆคŽ็ฎกๅ†…ใซไพตๅ…ฅใ™ใ‚‹๏ผŽ่…ฐไป™้ƒจใซๅฅฝ็™บใ™ใ‚‹๏ผŽ่„‚่‚ช่…ซใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่„Š้ซ„ๅœง่ฟซๅŠใณ็ฅž็ตŒ็ต„็น”็‰ฝๅผ•๏ผˆ่„Š้ซ„ไฟ‚็•™๏ผ‰ใซใ‚ˆใ‚Šใ€ ่†€่ƒฑ็›ด่…ธ้šœๅฎณ๏ผˆๆŽ’ๅฐฟใƒปๆŽ’ไพฟ้šœๅฎณ๏ผ‰ใŠใ‚ˆใณไธ‹่‚ข้šœๅฎณ๏ผˆ้‹ๅ‹•้šœๅฎณใƒปๆ„Ÿ่ฆš้šœๅฎณใƒป้–ข็ฏ€ๅค‰ๅฝข๏ผ‰็ญ‰ใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ ่„Š้ซ„่„‚่‚ช่…ซใฏ่ปŸ่†œไธ‹่„‚่‚ช่…ซใ€่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใ€่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใฏ็”ปๅƒๆ‰€่ฆ‹ใ‚’ใ‚‚ใจใซใ•ใ‚‰ใซๅˆ†้กžใ•ใ‚Œใ€ ่„Š้ซ„่„‚่‚ช้ซ„่†œ็˜คใ‚‚ๅซใพใ‚Œใ‚‹๏ผŽไธ€่ˆฌใซใ€่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆใฏ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅŠใณ่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใ‚’ๆŒ‡ใ™๏ผˆๅ›ณ1,2๏ผ‰๏ผŽ (ๅ›ฝๅ†…ใง่„Š้ซ„่„‚่‚ช่…ซใฏ้€šๅธธspinal lipomaใจ่‹ฑ่จณใ•ใ‚Œใ€lipomyelomenigoceleใฏ่„‚่‚ช้ซ„่†œ็˜คใจใ—ใฆไธŠ่ฟฐใ—ใŸ้€šใ‚Šใ€่„Š้ซ„่„‚่‚ช่…ซใฎไบœๅž‹ใ‚’ๆŒ‡ใ™๏ผŽ ใ—ใ‹ใ—ใ€ๆตทๅค–ใฎๆ–‡็Œฎใงใฏ่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆlipomyelomeningocele, lipomeingoceleใŒไฝฟ็”จใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ)ๅ›ณ1:่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅ›ณ2:่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซ"@ja ; - terms:identifier "2200815" ; - terms:source ; + + nando:hasNotificationNumber "37" ; + dcterms:description "่„Š้ซ„่„‚่‚ช่…ซใฏๆฝœๅœจๆ€งไบŒๅˆ†่„ŠๆคŽใ‚’ไปฃ่กจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ๏ผˆๅฅ‡ๅฝข๏ผ‰ใงใ‚ใ‚‹๏ผŽ็šฎ่†šๅค–่ƒš่‘‰ใจ็ฅž็ตŒๅค–่ƒš่‘‰ใฎๅˆ†้›ข้šœๅฎณใซใ‚ˆใ‚Š็™บ็”Ÿใ—ใ€ ็šฎไธ‹ใจ้€ฃ็ถšใ—ใŸ่„‚่‚ช็ต„็น”ใŒ่„ŠๆคŽ็ฎกๅ†…ใซไพตๅ…ฅใ™ใ‚‹๏ผŽ่…ฐไป™้ƒจใซๅฅฝ็™บใ™ใ‚‹๏ผŽ่„‚่‚ช่…ซใใฎใ‚‚ใฎใซใ‚ˆใ‚‹่„Š้ซ„ๅœง่ฟซๅŠใณ็ฅž็ตŒ็ต„็น”็‰ฝๅผ•๏ผˆ่„Š้ซ„ไฟ‚็•™๏ผ‰ใซใ‚ˆใ‚Šใ€ ่†€่ƒฑ็›ด่…ธ้šœๅฎณ๏ผˆๆŽ’ๅฐฟใƒปๆŽ’ไพฟ้šœๅฎณ๏ผ‰ใŠใ‚ˆใณไธ‹่‚ข้šœๅฎณ๏ผˆ้‹ๅ‹•้šœๅฎณใƒปๆ„Ÿ่ฆš้šœๅฎณใƒป้–ข็ฏ€ๅค‰ๅฝข๏ผ‰็ญ‰ใฎ็—‡็ŠถใŒๅ‡บ็พใ™ใ‚‹ใ€‚ ่„Š้ซ„่„‚่‚ช่…ซใฏ่ปŸ่†œไธ‹่„‚่‚ช่…ซใ€่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใ€่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผŽ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซใฏ็”ปๅƒๆ‰€่ฆ‹ใ‚’ใ‚‚ใจใซใ•ใ‚‰ใซๅˆ†้กžใ•ใ‚Œใ€ ่„Š้ซ„่„‚่‚ช้ซ„่†œ็˜คใ‚‚ๅซใพใ‚Œใ‚‹๏ผŽไธ€่ˆฌใซใ€่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆใฏ่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅŠใณ่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซใ‚’ๆŒ‡ใ™๏ผˆๅ›ณ1,2๏ผ‰๏ผŽ (ๅ›ฝๅ†…ใง่„Š้ซ„่„‚่‚ช่…ซใฏ้€šๅธธspinal lipomaใจ่‹ฑ่จณใ•ใ‚Œใ€lipomyelomenigoceleใฏ่„‚่‚ช้ซ„่†œ็˜คใจใ—ใฆไธŠ่ฟฐใ—ใŸ้€šใ‚Šใ€่„Š้ซ„่„‚่‚ช่…ซใฎไบœๅž‹ใ‚’ๆŒ‡ใ™๏ผŽ ใ—ใ‹ใ—ใ€ๆตทๅค–ใฎๆ–‡็Œฎใงใฏ่„Š้ซ„่„‚่‚ช่…ซใจใ—ใฆlipomyelomeningocele, lipomeingoceleใŒไฝฟ็”จใ•ใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ)ๅ›ณ1:่„Š้ซ„ๅ††้Œ้ƒจ่„‚่‚ช่…ซๅ›ณ2:่„Š้ซ„็ต‚็ณธ่„‚่‚ช่…ซ"@ja ; + dcterms:identifier "NANDO:2200815" ; + dcterms:source ; a owl:Class ; - rdfs:label "Spinal lipoma"@en, "่„Š้ซ„่„‚่‚ช่…ซ"@ja ; + rdfs:label "Spinal lipoma"@en, "ใ›ใใšใ„ใ—ใผใ†ใ—ใ‚…"@ja-Hira, "่„Š้ซ„่„‚่‚ช่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001790 ; skos:prefLabel "่„Š้ซ„่„‚่‚ช่…ซ"@ja . -:2200816 - :hasNotificationNumber "55" ; - terms:description "ไป™้ชจใฎๅ…ˆ็ซฏใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ๅฅ‡ๅฝข่…ซใงใ€่‡€้ƒจใ‚ˆใ‚Šๅค–ๆ–นใธ็ชๅ‡บใพใŸใฏ้ชจ็›ค่…”ๅ†…ใƒป่…น่…”ๅ†…ใธ้€ฒๅฑ•ใ™ใ‚‹ใ€‚ๅ……ๅฎŸๆ€งใ‹ใ‚‰ๅšข่ƒžๆ€งใฎใ‚‚ใฎใพใงๆง˜ใ€…ใชๅฝขๆ…‹ใ‚’ใจใ‚‹ใ€‚"@ja ; - terms:identifier "2200816" ; - terms:source ; + + nando:hasNotificationNumber "54" ; + dcterms:description "ไป™้ชจใฎๅ…ˆ็ซฏใ‚ˆใ‚Š็™บ็”Ÿใ™ใ‚‹ๅฅ‡ๅฝข่…ซใงใ€่‡€้ƒจใ‚ˆใ‚Šๅค–ๆ–นใธ็ชๅ‡บใพใŸใฏ้ชจ็›ค่…”ๅ†…ใƒป่…น่…”ๅ†…ใธ้€ฒๅฑ•ใ™ใ‚‹ใ€‚ๅ……ๅฎŸๆ€งใ‹ใ‚‰ๅšข่ƒžๆ€งใฎใ‚‚ใฎใพใงๆง˜ใ€…ใชๅฝขๆ…‹ใ‚’ใจใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200816" ; + dcterms:source ; a owl:Class ; - rdfs:label "sacrococcygeal teratoma"@en, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ"@ja ; + rdfs:label "Sacrococcygeal teratoma"@en, "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…"@ja-Hira, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0042727 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0042727 ; skos:prefLabel "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ"@ja . -:2200817 - :hasNotificationNumber "66" ; - terms:description "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใ‚„ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็•ฐๅฝขๆˆใ‚’ๅซใฟใ€็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ใจๅŒ็พฉใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200817" ; - terms:source ; + + nando:hasNotificationNumber "81" ; + dcterms:description "ๅคง่„ณ็šฎ่ณชใฎๅฝขๆˆ้Ž็จ‹ใซใŠใ‘ใ‚‹็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•ใฎ้šœๅฎณใซใ‚ˆใฃใฆ็”Ÿใ˜ใŸ็šฎ่ณชๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚็‹ญ็พฉใซใฏ็„ก่„ณๅ›žใจๅŽš่„ณๅ›žใฎๅคๅ…ธๅž‹ๆป‘่„ณ็—‡ใ‚’ๆŒ‡ใ™ใŒใ€ๅบƒ็พฉใซใฏ็•ฐๆ‰€ๆ€ง็ฐ็™ฝ่ณชใ‚„ๅคšๅฐ่„ณๅ›žใ€ๆ•ท็Ÿณๆง˜็•ฐๅฝขๆˆใ‚’ๅซใฟใ€็ฅž็ตŒ็ดฐ่ƒž็งปๅ‹•็•ฐๅธธ็—‡ใจๅŒ็พฉใซ็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200817" ; + dcterms:source ; a owl:Class ; - rdfs:label "lissencephaly"@en, "ๆป‘่„ณ็—‡"@ja ; + rdfs:label "Lissencephaly"@en, "ใ‹ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆป‘่„ณ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018838 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018838 ; skos:prefLabel "ๆป‘่„ณ็—‡"@ja . -:2200818 - :hasNotificationNumber "72" ; - terms:description "ๅคง่„ณ็šฎ่ณชใŒ่„ณๅฎคใซๅˆฐ้”ใ—๏ผŒใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸๅ…ˆๅคฉ็š„ใช่„ณๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใฎ็šฎ่ณชใฏๅคšๅฐ่„ณๅ›žใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคšๅฐ่„ณๅ›žใ‚’ไผดใ‚ใšใ€ใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸ็Šถๆ…‹ใ‚’ๅญ”่„ณ็—‡ใจใ‚ˆใณๅŒบๅˆฅใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€็™บ็”Ÿๆ™‚ๆœŸใฎ้•ใ„ใง็—…ๆ…‹ใฏๅ…ฑ้€šใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚็•ฐๅธธ้–“้š™ใจใ—ใฆ้ซ„ๆถฒ่…”ใ‚’ๆ˜Žใ‚‰ใ‹ใซ่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’โ€open lipโ€๏ผŒ้–“้š™ใŒ้–‰ใ˜ใฆ้ซ„ๆถฒ่…”ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’โ€closed lipโ€ใจใ‚ˆใถใ€‚"@ja ; - terms:identifier "2200818" ; - terms:source ; + + nando:hasNotificationNumber "89" ; + dcterms:description "ๅคง่„ณ็šฎ่ณชใŒ่„ณๅฎคใซๅˆฐ้”ใ—๏ผŒใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸๅ…ˆๅคฉ็š„ใช่„ณๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚Šใ€็—…ๅค‰้ƒจไฝใฎ็šฎ่ณชใฏๅคšๅฐ่„ณๅ›žใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๅคšๅฐ่„ณๅ›žใ‚’ไผดใ‚ใšใ€ใใ‚‚่†œไธ‹่…”ใจ่„ณๅฎคใŒไบค้€šใ—ใŸ็Šถๆ…‹ใ‚’ๅญ”่„ณ็—‡ใจใ‚ˆใณๅŒบๅˆฅใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใŒใ€็™บ็”Ÿๆ™‚ๆœŸใฎ้•ใ„ใง็—…ๆ…‹ใฏๅ…ฑ้€šใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚็•ฐๅธธ้–“้š™ใจใ—ใฆ้ซ„ๆถฒ่…”ใ‚’ๆ˜Žใ‚‰ใ‹ใซ่ชใ‚ใ‚‹ใ‚‚ใฎใ‚’โ€open lipโ€๏ผŒ้–“้š™ใŒ้–‰ใ˜ใฆ้ซ„ๆถฒ่…”ใŒ่ชใ‚ใ‚‰ใ‚Œใชใ„ใ‚‚ใฎใ‚’โ€closed lipโ€ใจใ‚ˆใถใ€‚"@ja ; + dcterms:identifier "NANDO:2200818" ; + dcterms:source ; a owl:Class ; - rdfs:label "schizencephaly"@en, "่ฃ‚่„ณ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010011 ; + rdfs:label "Schizencephaly"@en, "ใ‚Œใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "่ฃ‚่„ณ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010011 ; skos:prefLabel "่ฃ‚่„ณ็—‡"@ja . -:2200819 - :hasNotificationNumber "68" ; - terms:description "็ฅž็ตŒ็ฎกใฎ่…นๅดๅŒ–้šœๅฎณใซใ‚ˆใ‚Šๅทฆๅณใฎๅคง่„ณๅŠ็ƒ๏ผˆๅ‰่„ณ๏ผ‰ใŒๅˆ†้›ขไธๅ…จใ‚’็”Ÿใ˜๏ผŒๆญฃไธญ้ƒจใงๅคง่„ณ็šฎ่ณชใƒปๅŸบๅบ•ๆ ธใƒป่ฆ–ๅบŠใฎ็™’ๅˆใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚่„ณ่‘‰ๅฝขๆˆใฎ็จ‹ๅบฆใซใ‚ˆใ‚Š็„กๅˆ†่‘‰alobar,ๅŠๅˆ†่‘‰semilobar,ๅˆ†่‘‰lobarใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200819" ; - terms:source ; + + nando:hasNotificationNumber "84" ; + dcterms:description "็ฅž็ตŒ็ฎกใฎ่…นๅดๅŒ–้šœๅฎณใซใ‚ˆใ‚Šๅทฆๅณใฎๅคง่„ณๅŠ็ƒ๏ผˆๅ‰่„ณ๏ผ‰ใŒๅˆ†้›ขไธๅ…จใ‚’็”Ÿใ˜๏ผŒๆญฃไธญ้ƒจใงๅคง่„ณ็šฎ่ณชใƒปๅŸบๅบ•ๆ ธใƒป่ฆ–ๅบŠใฎ็™’ๅˆใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚่„ณ่‘‰ๅฝขๆˆใฎ็จ‹ๅบฆใซใ‚ˆใ‚Š็„กๅˆ†่‘‰alobar,ๅŠๅˆ†่‘‰semilobar,ๅˆ†่‘‰lobarใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200819" ; + dcterms:source ; a owl:Class ; - rdfs:label "holoprosencephaly"@en, "ๅ…จๅ‰่„ณ่ƒž็—‡"@ja ; + rdfs:label "Holoprosencephaly"@en, "ใœใ‚“ใœใ‚“ใฎใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…จๅ‰่„ณ่ƒž็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016296 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016296 ; skos:prefLabel "ๅ…จๅ‰่„ณ่ƒž็—‡"@ja . -:2200820 - :hasNotificationNumber "71" ; - terms:description "้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ3็—‡็Šถใ‚’ใใŸใ™ๅ…ธๅž‹ไพ‹ใฏ30%ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200820" ; - terms:source ; - a owl:Class ; - rdfs:label "septo-optic dysplasia"@en, "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "De Morsier syndrome"@en, "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008428 ; + + nando:hasNotificationNumber "87" ; + dcterms:description "้€ๆ˜Žไธญ้š”ๆฌ ๆใจ่ฆ–็ฅž็ตŒไฝŽๅฝขๆˆใซใ€ไธ‹ๅž‚ไฝ“ๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ‚’ไผดใ†ๅ…ˆๅคฉ็•ฐๅธธใงใ‚ใ‚‹ใ€‚่„ณใจ็œผใจไธ‹ๅž‚ไฝ“ใฎ3็—‡็Šถใ‚’ใใŸใ™ๅ…ธๅž‹ไพ‹ใฏ30%ใฎใฟใงใ€่ฆ–่ฆš้šœๅฎณใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ‚„่„ณๆ€ง้บป็—บใชใฉใ‚’ไฝต็™บใ™ใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200820" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Septo-optic dysplasia"@en, "ใกใ‚…ใ†ใ‹ใใ—ใ—ใ‚“ใ‘ใ„ใ‘ใ„ใ›ใ„ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "De Morsier syndrome"@en, "SOD"@en, "de Morsier็—‡ๅ€™็พค"@ja, "ใƒ‰ใƒขใƒซใ‚ทใ‚ข็—‡ๅ€™็พค"@ja, "ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅธธ็—‡"@ja, "ไธญ้š”่ฆ–็ฅž็ตŒ็•ฐๅฝขๆˆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0008428 ; skos:prefLabel "ไธญ้š”่ฆ–็ฅž็ตŒๅฝขๆˆ็•ฐๅธธ็—‡"@ja . -:2200821 - :hasNotificationNumber "70" ; - terms:description "็ฌฌ4่„ณๅฎคใจ้€ฃ็ถšใ—ใŸๅพŒ้ ญ่“‹็ชฉๆญฃไธญใฎๅšข่ƒžใจๅฐ่„ณ่™ซ้ƒจใฎๅฎŒๅ…จใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆฌ ๆใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉ็š„็—…ๅค‰ใงใ™ใ€‚ๅฐ่„ณใƒ†ใƒณใƒˆใ€้™่„ˆๆดžไบคไผšใ‚„ๆจช้™่„ˆๆดžใฎๆŒ™ไธŠใ‚’ไผดใ„ใพใ™ใ€‚"@ja ; - terms:identifier "2200821" ; - terms:source ; + + nando:hasNotificationNumber "86" ; + dcterms:description "็ฌฌ4่„ณๅฎคใจ้€ฃ็ถšใ—ใŸๅพŒ้ ญ่“‹็ชฉๆญฃไธญใฎๅšข่ƒžใจๅฐ่„ณ่™ซ้ƒจใฎๅฎŒๅ…จใ‚ใ‚‹ใ„ใฏ้ƒจๅˆ†ๆฌ ๆใ‚’่ชใ‚ใ‚‹ๅ…ˆๅคฉ็š„็—…ๅค‰ใงใ™ใ€‚ๅฐ่„ณใƒ†ใƒณใƒˆใ€้™่„ˆๆดžไบคไผšใ‚„ๆจช้™่„ˆๆดžใฎๆŒ™ไธŠใ‚’ไผดใ„ใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200821" ; + dcterms:source ; a owl:Class ; - rdfs:label "Dandy-Walker syndrome"@en, "ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Dandy-Walker syndrome"@en, "ใ ใ‚“ใงใƒใƒผใƒปใ†ใ‰ใƒผใ‹ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Dandy-Walker็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009072 ; + skos:closeMatch obo:MONDO_0009072 ; skos:prefLabel "ใƒ€ใƒณใƒ‡ใ‚ฃใƒผใƒปใ‚ฆใ‚ฉใƒผใ‚ซใƒผ็—‡ๅ€™็พค"@ja . -:2200822 - :hasNotificationNumber "69" ; - terms:description "ๆฐด้ ญ็—‡ใฏไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ ญ่“‹ๅ†…๏ผˆ่„ณๅฎคใ€ใใ‚‚่†œไธ‹่…”ใชใฉ๏ผ‰ใซ้Žๅ‰ฐใช้ซ„ๆถฒใŒ่ฒฏ็•™ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™๏ผŽ้€šๅธธใฏ่„ณๅฎคๆ‹กๅคงใ‚’ไผดใ†ใŒใ€่„ณ่กจใใ‚‚่†œไธ‹่…”ไธปไฝ“ใซ้ซ„ๆถฒใŒ่ฒฏ็•™๏ผˆๅค–ๆฐด้ ญ็—‡๏ผ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ซ„ๆถฒ่ฒฏ็•™ใซไผดใ„้ ญ่“‹ๅ†…ๅœงไบข้€ฒใซ็”ฑๆฅใ™ใ‚‹ๅ„็จฎ็—‡็Šถใƒปๅ…†ๅ€™ใ‚’ไผดใ†๏ผŽๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ใฏใ€ๆฐด้ ญ็—‡ใฎไธญใงใ‚‚่ƒŽๅ…ๆœŸใซ็™บ็—‡ใ—่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ€ใŠใ‚ˆใณ่ƒŽๅ…ๆœŸใซ็™บ็”Ÿใ—ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ‚’ๆŒ‡ใ™๏ผŽใ“ใฎไธญใซใฏไบŒๅˆ†้ ญ่“‹ใƒป่„Š้ซ„้ซ„่†œ็˜คใƒปๅ…จๅ‰่„ณ่ƒž็—‡ใชใฉไป–ใฎๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใƒป็—‡ๅ€™็พคใซไผดใฃใŸใ‚‚ใฎใจใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒไธๆ˜Žใช็‰น็™บๆ€งๆฐด้ ญ็—‡๏ผˆ้บไผๆ€งๆฐด้ ญ็—‡ใƒปๆฐด็„ก่„ณ็—‡ใƒป6q deletion็—‡ๅ€™็พคใชใฉใฎๆŸ“่‰ฒไฝ“็•ฐๅธธใซไผดใ†ใ‚‚ใฎใชใฉ๏ผ‰ใ‚’ๅซใ‚€๏ผŽ"@ja ; - terms:identifier "2200822" ; - terms:source ; + + nando:hasNotificationNumber "85" ; + dcterms:description "ๆฐด้ ญ็—‡ใฏไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š้ ญ่“‹ๅ†…๏ผˆ่„ณๅฎคใ€ใใ‚‚่†œไธ‹่…”ใชใฉ๏ผ‰ใซ้Žๅ‰ฐใช้ซ„ๆถฒใŒ่ฒฏ็•™ใ—ใŸ็Šถๆ…‹ใ‚’ๆŒ‡ใ™๏ผŽ้€šๅธธใฏ่„ณๅฎคๆ‹กๅคงใ‚’ไผดใ†ใŒใ€่„ณ่กจใใ‚‚่†œไธ‹่…”ไธปไฝ“ใซ้ซ„ๆถฒใŒ่ฒฏ็•™๏ผˆๅค–ๆฐด้ ญ็—‡๏ผ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽ้ซ„ๆถฒ่ฒฏ็•™ใซไผดใ„้ ญ่“‹ๅ†…ๅœงไบข้€ฒใซ็”ฑๆฅใ™ใ‚‹ๅ„็จฎ็—‡็Šถใƒปๅ…†ๅ€™ใ‚’ไผดใ†๏ผŽๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡ใฏใ€ๆฐด้ ญ็—‡ใฎไธญใงใ‚‚่ƒŽๅ…ๆœŸใซ็™บ็—‡ใ—่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ€ใŠใ‚ˆใณ่ƒŽๅ…ๆœŸใซ็™บ็”Ÿใ—ๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸๆฐด้ ญ็—‡ใ‚’ๆŒ‡ใ™๏ผŽใ“ใฎไธญใซใฏไบŒๅˆ†้ ญ่“‹ใƒป่„Š้ซ„้ซ„่†œ็˜คใƒปๅ…จๅ‰่„ณ่ƒž็—‡ใชใฉไป–ใฎๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใƒป็—‡ๅ€™็พคใซไผดใฃใŸใ‚‚ใฎใจใ€ๆ˜Žใ‚‰ใ‹ใชๅŽŸๅ› ใŒไธๆ˜Žใช็‰น็™บๆ€งๆฐด้ ญ็—‡๏ผˆ้บไผๆ€งๆฐด้ ญ็—‡ใƒปๆฐด็„ก่„ณ็—‡ใƒป6q deletion็—‡ๅ€™็พคใชใฉใฎๆŸ“่‰ฒไฝ“็•ฐๅธธใซไผดใ†ใ‚‚ใฎใชใฉ๏ผ‰ใ‚’ๅซใ‚€๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200822" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital hydrocephalus"@en, "ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡"@ja ; + rdfs:label "Congenital hydrocephalus"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ™ใ„ใจใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016349 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016349 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๆฐด้ ญ็—‡"@ja . -:2200823 - :hasNotificationNumber "67" ; - terms:description "ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใฏใ€ๅคง้ ญใซๅŠ ใˆใฆๅคšๅฐ่„ณๅ›žใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€้Žๆˆ้•ทใ€ๆŒ‡่ถพๅฅ‡ๅฝขใ€็ตๅˆ็ต„็น”็•ฐๅธธใชใฉใ‚’่ชใ‚ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนด็—‡ๅ€™็พคใจใ—ใฆ่ช่ญ˜ใ•ใ‚Œใ€2012ๅนดใซ็ดฐ่ƒžๅข—ๆฎ–ใซ้–ขไธŽใ™ใ‚‹mTORใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใŒ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚Œใฆใ‹ใ‚‰ๅ ฑๅ‘Šไพ‹ใŒๆ€ฅๅข—ใ—ใฆใ„ใ‚‹ใ€‚ๅทจ่„ณใซใ‚ˆใ‚Šใ€้ ญๅ›ฒใŒๆ‹กๅคงใ™ใ‚‹ใ ใ‘ใงใชใใ€ๅฐ่„ณๆ‰ๆกƒไธ‹ๅž‚ใซใ‚ˆใ‚‹ๆฐด้ ญ็—‡ใ‚„่„Š้ซ„็ฉบๆดž็—‡ใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚Šใ€ๆ™‚ใซๆ‰‹่ก“ใ‚’่ฆใ™ใ‚‹ใ€‚ใพใŸใ€ๅคšๅฐ่„ณๅ›žใชใฉใ€่„ณๅฎŸ่ณชใฎๅค‰ๅŒ–ใ‚’ๆฅใŸใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏMacrocephaly-cutis marmorata telangiectasia congenitaใฎ็—…ๅใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹็šฎ่†š็—…ๅค‰ใฏๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚Šใ€ๅคง็†็Ÿณๆง˜็šฎๆ–‘ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใŒๆญฃ็ขบใซ็—…ๆ…‹ใ‚’่กจใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200823" ; - terms:source ; + + nando:hasNotificationNumber "83" ; + dcterms:description "ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใฏใ€ๅคง้ ญใซๅŠ ใˆใฆๅคšๅฐ่„ณๅ›žใ€ๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใ€้Žๆˆ้•ทใ€ๆŒ‡่ถพๅฅ‡ๅฝขใ€็ตๅˆ็ต„็น”็•ฐๅธธใชใฉใ‚’่ชใ‚ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ฟ‘ๅนด็—‡ๅ€™็พคใจใ—ใฆ่ช่ญ˜ใ•ใ‚Œใ€2012ๅนดใซ็ดฐ่ƒžๅข—ๆฎ–ใซ้–ขไธŽใ™ใ‚‹mTORใ‚ทใ‚ฐใƒŠใƒซไผ้”็ณปใŒ่ฒฌไปป้บไผๅญใงใ‚ใ‚‹ใ“ใจใŒๅŒๅฎšใ•ใ‚Œใฆใ‹ใ‚‰ๅ ฑๅ‘Šไพ‹ใŒๆ€ฅๅข—ใ—ใฆใ„ใ‚‹ใ€‚ๅทจ่„ณใซใ‚ˆใ‚Šใ€้ ญๅ›ฒใŒๆ‹กๅคงใ™ใ‚‹ใ ใ‘ใงใชใใ€ๅฐ่„ณๆ‰ๆกƒไธ‹ๅž‚ใซใ‚ˆใ‚‹ๆฐด้ ญ็—‡ใ‚„่„Š้ซ„็ฉบๆดž็—‡ใ‚’ใใŸใ™ใ“ใจใŒใ‚ใ‚Šใ€ๆ™‚ใซๆ‰‹่ก“ใ‚’่ฆใ™ใ‚‹ใ€‚ใพใŸใ€ๅคšๅฐ่„ณๅ›žใชใฉใ€่„ณๅฎŸ่ณชใฎๅค‰ๅŒ–ใ‚’ๆฅใŸใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่‡ช้–‰็—‡ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฅๅ‰ใฏMacrocephaly-cutis marmorata telangiectasia congenitaใฎ็—…ๅใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใŸใŒใ€ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹็šฎ่†š็—…ๅค‰ใฏๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚Šใ€ๅคง็†็Ÿณๆง˜็šฎๆ–‘ใงใฏใชใ„ใ“ใจใ‹ใ‚‰ใ€ๅทจ่„ณ็—‡ใƒผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พคใŒๆญฃ็ขบใซ็—…ๆ…‹ใ‚’่กจใ—ใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200823" ; + dcterms:source ; a owl:Class ; - rdfs:label "Megalencephaly-capillary malformation syndrome"@en, "ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค"@ja ; + rdfs:label "Megalencephaly-capillary malformation syndrome"@en, "ใใ‚‡ใฎใ†ใ—ใ‚‡ใ†๏ผใ‚‚ใ†ใ•ใ„ใ‘ใฃใ‹ใ‚“ใใ‘ใ„ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Megalencephaly-capillary malformation-polymicrogyria"@en ; - skos:closeMatch mondo:MONDO_0011240 ; + skos:closeMatch obo:MONDO_0011240 ; skos:prefLabel "ๅทจ่„ณ็—‡๏ผๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็—‡ๅ€™็พค"@ja . -:2200824 - :hasNotificationNumber "21" ; - terms:description "ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏใ€1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž(่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†)ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พคใฏใ€1969ๅนดใซJoubertใŒใƒ•ใƒฉใƒณใ‚น็ณปใ‚ซใƒŠใƒ€ไบบใฎๅฎถๆ—ใซ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ‘ผๅธ็•ฐๅธธใ€็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ€ๅฐ่„ณ่™ซ้ƒจไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ๅˆใ‚ใฆๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒไธ–็•Œใง100ไพ‹ไปฅไธŠใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ใ“ใฎๆœฌๆฅใฎJoubert็—‡ๅ€™็พคใซ่…Ž้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใชใฉใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใ€Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200824" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "ๆœ‰้ฆฌ็—‡ๅ€™็พคใฏใ€1971ๅนดใซๆœ‰้ฆฌๆญฃ้ซ˜ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€ไนณๅ…ๆœŸๆ—ฉๆœŸใ‚ˆใ‚Š้‡ๅบฆ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ๅ…ˆๅคฉๆ€ง่ฆ–่ฆš้šœๅฎณใ€ๅšข่ƒž่…Ž(่‹ฅๅนดๆ€งใƒใƒ•ใƒญใƒณ็™†)ใ€็œผ็žผไธ‹ๅž‚ใ€ๅฐ่„ณ่™ซ้ƒจๆฌ ๆใ€ไธ‹้ƒจ่„ณๅนนๅฝขๆˆ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ‚ธใƒฅใƒ™ใƒผใƒซ๏ผˆJoubert๏ผ‰็—‡ๅ€™็พคใฏใ€1969ๅนดใซJoubertใŒใƒ•ใƒฉใƒณใ‚น็ณปใ‚ซใƒŠใƒ€ไบบใฎๅฎถๆ—ใซ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€ๅ‘ผๅธ็•ฐๅธธใ€็œผ็ƒ้‹ๅ‹•ๅคฑ่กŒใ€ๅฐ่„ณ่™ซ้ƒจไฝŽๅฝขๆˆใ‚ใ‚‹ใ„ใฏๆฌ ๆใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใ‚’ๅˆใ‚ใฆๅ ฑๅ‘Šใ—ใ€ใใฎๅพŒไธ–็•Œใง100ไพ‹ไปฅไธŠใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚่ฟ‘ๅนดใ€ใ“ใฎๆœฌๆฅใฎJoubert็—‡ๅ€™็พคใซ่…Ž้šœๅฎณใ€่ฆ–่ฆš้šœๅฎณใชใฉใฎๅˆไฝตใŒๅ ฑๅ‘Šใ•ใ‚Œใ€Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใจใ—ใฆๆๅ”ฑใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200824" ; + dcterms:source ; a owl:Class ; - rdfs:label "Joubert syndrome related disorders"@en, "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Joubert syndrome related disorders"@en, "ใ˜ใ‚…ในใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "Joubert็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja ; - skos:closeMatch mondo:MONDO_0015369 ; + skos:closeMatch obo:MONDO_0015369 ; skos:prefLabel "ใ‚ธใƒฅใƒ™ใƒผใƒซ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃ"@ja . -:2200825 - :hasNotificationNumber "81" ; - terms:description "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚"@ja ; - terms:identifier "2200825" ; - terms:source ; + + nando:hasNotificationNumber "100" ; + dcterms:description "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€1966ๅนดAndreas Rett๏ผˆใ‚ฆใ‚ฃใƒผใƒณใฎๅฐๅ…็ฅž็ตŒ็ง‘ๅŒป๏ผ‰ใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฏ็ฅž็ตŒ็ณปใ‚’ไธปไฝ“ใจใ—ใŸ็‰น็•ฐใช็™บ้”้šœๅฎณใงใ‚ใ‚‹ใ€‚ๅˆ็™บ็—‡็Šถใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซๅค–็•Œใธใฎๅๅฟœใฎๆฌ ๅฆ‚ใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใงใ‚ใ‚‹ใŒใ€ใใ‚Œใ‚‰ใฎ็—‡็ŠถใŒ่ปฝๅพฎใชใŸใ‚็•ฐๅธธใซๆฐ—ไป˜ใ‹ใชใ„ใ“ใจใŒๅคšใ„ใ€‚ไนณๅ…ๆœŸๅพŒๅŠไปฅๅพŒใ€ๆ‰‹ใฎๅธธๅŒ้‹ๅ‹•ใ‚’ไธปไฝ“ใจใ™ใ‚‹็‰นๅพด็š„ใช็—‡็ŠถใŒๅนด้ฝขไพๅญ˜ๆ€งใซๅ‡บ็พใ™ใ‚‹ใ€‚ๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏๅฏพ็—‡็™‚ๆณ•ใฎใฟใงใ‚ใ‚‹ใ€‚ๅŽŸๅ› ้บไผๅญใฏMethyl-CpG-binding protein2 ้บไผๅญ (MECP2)ใงใ‚ใ‚‹ใ€‚MECP2ใฎๅŸบ็คŽ็š„็ ”็ฉถใŒ้€ฒใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ใƒฌใƒƒใƒˆ็—‡ๅ€™็พคใฎ็—…ๆ…‹่งฃๆ˜Žใพใงใซใฏ่‡ณใฃใฆใ„ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200825" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rett syndrome"@en, "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Rett syndrome"@en, "ใ‚Œใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Rett็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010726 ; + skos:closeMatch obo:MONDO_0010726 ; skos:prefLabel "ใƒฌใƒƒใƒˆ็—‡ๅ€™็พค"@ja . -:2200826 - :hasNotificationNumber "24" ; - terms:description "Tuberous sclerosis(็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡)ใซ้–ขใ™ใ‚‹่จ˜่ผ‰ใฏ, 1835ๅนดPFO Rayerใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€1862ๅนดvon Recklinghausen ใซใ‚ˆใ‚Šbrain sclerosis ใ‚’ไผดใฃใŸๆ–ฐ็”Ÿๅ…ใฎcardiac tumors (myomata)ใŒใ€ใใฎๅพŒ1880ๅนดใซใ€Bournevilleใซใ‚ˆใ‚Šใฆใ‚“ใ‹ใ‚“ใ‚’ไผดใ†็ฒพ็ฅž็™บ้”้…ๆปžใฎๆ‚ฃ่€…ใฎๅ‰–ๆคœๆ‰€่ฆ‹ใจใ—ใฆ่„ณใซ็กฌๅŒ–ใ—ใŸ็ต็ฏ€ๆ€ง็—…ๅค‰'Tuberous sclerosis of the cerebral convolutions' ใจ่จ€ใ†่กจ็พใŒไฝฟใ‚ใ‚Œใ€ใ“ใ‚ŒใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅTuberous sclerosisใฎ็”ฑๆฅใจใชใฃใŸใ€‚ใ•ใ‚‰ใซใ€1890ๅนดใ€pringleใฏ้ก”้ขใฎ็šฎ่†š็—‡็Šถใ‚’adenoma sebaceum๏ผˆๅพŒๅนดใ“ใ‚Œใฏadenoma sebaceumใงใฏใชใangiofibromaใงใ‚ใ‚‹ใ“ใจใŒ็ขบ่ชใ•ใ‚Œใ‚‹๏ผ‰ใจๅ ฑๅ‘Šใ—ใŸใ€‚ใ“ใ‚ŒใŒๆœฌ็—‡ใŒBourneville-Pringle็—…ใ‚ใ‚‹ใ„ใฏPringle็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ‚†ใˆใ‚“ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ้บไผๅฝขๅผใซ้–ขใ—ใฆใฏใ€1935ๅนดใซGuntherใจPenroseใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฏๅคใใ‹ใ‚‰็Ÿฅใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใฏใ‚ใฃใŸใŒใ€ใใฎๅพŒ็ด„ๅŠไธ–็ด€ใซใ‚ใŸใฃใฆใปใจใ‚“ใฉ้€ฒๆญฉใŒ่ชใ‚ใ‚‰ใ‚Œใชใ‹ใฃใŸใ€‚1993ๅนดใซEuropian chromosome 16 tuberous sclerosis consortiumใซใ‚ˆใฃใฆ16็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฎ้บไผๅญใฎไธ€ใคTSC2้บไผๅญใŒใ€1997ๅนดใซVan Slegtnenhorstใ‚‰ใซใ‚ˆใฃใฆ9็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซTSC1้บไผๅญใŒใ‚ใ„ใคใ„ใงๅŒๅฎšใ•ใ‚Œใ‚‹ใซๅŠใ‚“ใงใ€ๆœฌ็—‡ใฎ่งฃๆ˜ŽใŒๆ€ฅ้€Ÿใซ้€ฒใ‚“ใ ใ€‚ใใ‚Œใซไผดใ„ใ€ๆœฌ็—‡ใฏ ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡่ค‡ๅˆไฝ“(Tuberous sclerosis complex)(TSC)ใจใ‚ˆใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸใ€‚TSC1้บไผๅญใจTSC2้บไผๅญใจใฏใ€ๅ…จใ็•ฐใชใฃใŸ้บไผๅญใงใ‚ใ‚‹ใŒใ€็พๅœจใฎใจใ“ใ‚ใ€่‡จๅบŠ็š„ใซTSC1,TSC2ใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใฏใงใใชใ„ใ€‚ๆœฌ็—‡ใฏๅ…จ่บซใฎ้Ž่ชค่…ซใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ€ๅคๅ…ธ็š„ใซใฏใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็™ฒ็™‡็™บไฝœๅŠใณ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซ(angiofibroma)ใ‚’ไธ‰ไธปๅพดใจใ—ใฆใใŸใŒใ€ๅ‰่ฟฐใ—ใŸใ‚ˆใ†ใซใ€้บไผๅญๆคœๆŸปใŒๅฏ่ƒฝใซใชใ‚Šใ€็จฎใ€…ใฎๆคœๆŸปๆŠ€่ก“ใ‚„ๆฉŸๅ™จใฎ้€ฒๆญฉใซไผดใ„ใ€ๅคšๆ•ฐใฎ้žๅ…ธๅž‹็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ใฎ่‡จๅบŠ็š„ใช็‰นๅพดใซๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€็ฅž็ตŒ็—‡็Šถใซ้–ขใ—ใฆใฏใ€ๅพ“ๆฅใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚„ใฆใ‚“ใ‹ใ‚“ใฎใฟใงใชใใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใšใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใฆใŠใ‚Šใ€ใ•ใ‚‰ใซใ€ๅนผๅฐๅ…ๆœŸใซ็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใšใซใ€ๆˆไบบใซใชใฃใฆๅˆใ‚ใฆ็šฎ่†šใ‚„่…Žใ€่‚บ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใ‚‚ๅข—ๅŠ ใ—ใฆใใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใซใจใฃใฆใฏใ€่ก€็ฎก็ญ‹่„‚่‚ช่…ซใชใฉใฎ่…Ž็—…ๅค‰ใ‚„ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆLymphangioleiomyomatosis LAM๏ผ‰ใชใฉใฎ่‚บ็—…ๅค‰ใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹็—…ๅค‰ใจใ—ใฆ้‡่ฆใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็”Ÿๅ‘ฝไบˆๅพŒใซใฏ้–ขไธŽใ—ใชใ„ใŒ็šฎ่†š็—…ๅค‰็‰นใซ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใฏ็คพไผš็”Ÿๆดปใ‚’่กŒใ†ไธŠใงๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใ้šœๅฎณใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎใ‚ˆใ†ใซใ€็šฎ่†šใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็›ฎใ€่…Žใ€ๅฟƒใ€่‚บใ€็ญ‰ใปใผๅ…จ่บซใซ็จฎใ€…ใฎ้Ž่ชค่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ใจๅŒๆ™‚ใซใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใ˜ใ€ใ—ใ‹ใ‚‚ใ€ๆœฌ็—‡ใงใฏใ€่‡จๅบŠ็—‡็Šถใฎ็จ‹ๅบฆใซใฏใฐใ‚‰ใคใใŒๅคšใใ€้‡็—‡ๅบฆใฎ็•ฐใชใ‚‹็จฎใ€…ใฎ็—…ๅค‰ใŒ็”Ÿๆถฏใซใ‚ใŸใ‚‹่‰ฒใ€…ใชๆ™‚ๆœŸใซใŠใ“ใฃใฆใใ‚‹ใจใ„ใ†ๆ™‚้–“็š„ใ€็ฉบ้–“็š„ใ€็จฎ้กžใ€็จ‹ๅบฆใฎๅคšๆง˜ๆ€งใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200826" ; - terms:source ; - a owl:Class ; - rdfs:label "tuberous sclerosis complex"@en, "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "TSC"@en ; - skos:closeMatch mondo:MONDO_0001734, mondo:MONDO_0008612, mondo:MONDO_0019341 ; + + nando:hasNotificationNumber "24" ; + dcterms:description "Tuberous sclerosis(็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡)ใซ้–ขใ™ใ‚‹่จ˜่ผ‰ใฏ, 1835ๅนดPFO Rayerใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ€1862ๅนดvon Recklinghausen ใซใ‚ˆใ‚Šbrain sclerosis ใ‚’ไผดใฃใŸๆ–ฐ็”Ÿๅ…ใฎcardiac tumors (myomata)ใŒใ€ใใฎๅพŒ1880ๅนดใซใ€Bournevilleใซใ‚ˆใ‚Šใฆใ‚“ใ‹ใ‚“ใ‚’ไผดใ†็ฒพ็ฅž็™บ้”้…ๆปžใฎๆ‚ฃ่€…ใฎๅ‰–ๆคœๆ‰€่ฆ‹ใจใ—ใฆ่„ณใซ็กฌๅŒ–ใ—ใŸ็ต็ฏ€ๆ€ง็—…ๅค‰'Tuberous sclerosis of the cerebral convolutions' ใจ่จ€ใ†่กจ็พใŒไฝฟใ‚ใ‚Œใ€ใ“ใ‚ŒใŒๆœฌ็–พๆ‚ฃใฎ็—…ๅTuberous sclerosisใฎ็”ฑๆฅใจใชใฃใŸใ€‚ใ•ใ‚‰ใซใ€1890ๅนดใ€pringleใฏ้ก”้ขใฎ็šฎ่†š็—‡็Šถใ‚’adenoma sebaceum๏ผˆๅพŒๅนดใ“ใ‚Œใฏadenoma sebaceumใงใฏใชใangiofibromaใงใ‚ใ‚‹ใ“ใจใŒ็ขบ่ชใ•ใ‚Œใ‚‹๏ผ‰ใจๅ ฑๅ‘Šใ—ใŸใ€‚ใ“ใ‚ŒใŒๆœฌ็—‡ใŒBourneville-Pringle็—…ใ‚ใ‚‹ใ„ใฏPringle็—…ใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ‚†ใˆใ‚“ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใฎ้บไผๅฝขๅผใซ้–ขใ—ใฆใฏใ€1935ๅนดใซGuntherใจPenroseใซใ‚ˆใ‚ŠๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎใ‚ˆใ†ใซใ€็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฏๅคใใ‹ใ‚‰็Ÿฅใ‚‰ใ‚ŒใŸ็–พๆ‚ฃใงใฏใ‚ใฃใŸใŒใ€ใใฎๅพŒ็ด„ๅŠไธ–็ด€ใซใ‚ใŸใฃใฆใปใจใ‚“ใฉ้€ฒๆญฉใŒ่ชใ‚ใ‚‰ใ‚Œใชใ‹ใฃใŸใ€‚1993ๅนดใซEuropian chromosome 16 tuberous sclerosis consortiumใซใ‚ˆใฃใฆ16็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใฎ้บไผๅญใฎไธ€ใคTSC2้บไผๅญใŒใ€1997ๅนดใซVan Slegtnenhorstใ‚‰ใซใ‚ˆใฃใฆ9็•ชใฎๆŸ“่‰ฒไฝ“ไธŠใซTSC1้บไผๅญใŒใ‚ใ„ใคใ„ใงๅŒๅฎšใ•ใ‚Œใ‚‹ใซๅŠใ‚“ใงใ€ๆœฌ็—‡ใฎ่งฃๆ˜ŽใŒๆ€ฅ้€Ÿใซ้€ฒใ‚“ใ ใ€‚ใใ‚Œใซไผดใ„ใ€ๆœฌ็—‡ใฏ ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡่ค‡ๅˆไฝ“(Tuberous sclerosis complex)(TSC)ใจใ‚ˆใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใŸใ€‚TSC1้บไผๅญใจTSC2้บไผๅญใจใฏใ€ๅ…จใ็•ฐใชใฃใŸ้บไผๅญใงใ‚ใ‚‹ใŒใ€็พๅœจใฎใจใ“ใ‚ใ€่‡จๅบŠ็š„ใซTSC1,TSC2ใ‚’ๅŒบๅˆฅใ™ใ‚‹ใ“ใจใฏใงใใชใ„ใ€‚ๆœฌ็—‡ใฏๅ…จ่บซใฎ้Ž่ชค่…ซใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ€ๅคๅ…ธ็š„ใซใฏใ€็Ÿฅ่ƒฝไฝŽไธ‹ใ€็™ฒ็™‡็™บไฝœๅŠใณ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซ(angiofibroma)ใ‚’ไธ‰ไธปๅพดใจใ—ใฆใใŸใŒใ€ๅ‰่ฟฐใ—ใŸใ‚ˆใ†ใซใ€้บไผๅญๆคœๆŸปใŒๅฏ่ƒฝใซใชใ‚Šใ€็จฎใ€…ใฎๆคœๆŸปๆŠ€่ก“ใ‚„ๆฉŸๅ™จใฎ้€ฒๆญฉใซไผดใ„ใ€ๅคšๆ•ฐใฎ้žๅ…ธๅž‹็—‡ไพ‹ใŒๅข—ๅŠ ใ—ใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ใฎ่‡จๅบŠ็š„ใช็‰นๅพดใซๅค‰ๅŒ–ใŒ่ชใ‚ใ‚‰ใ‚Œใฆใใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกใ€็ฅž็ตŒ็—‡็Šถใซ้–ขใ—ใฆใฏใ€ๅพ“ๆฅใฎ็ฒพ็ฅž็™บ้”้…ๆปžใ‚„ใฆใ‚“ใ‹ใ‚“ใฎใฟใงใชใใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใšใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใใฆใŠใ‚Šใ€ใ•ใ‚‰ใซใ€ๅนผๅฐๅ…ๆœŸใซ็ฒพ็ฅž็ฅž็ตŒ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใšใซใ€ๆˆไบบใซใชใฃใฆๅˆใ‚ใฆ็šฎ่†šใ‚„่…Žใ€่‚บ็—‡็Šถใง่จบๆ–ญใ•ใ‚Œใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใ‚‚ๅข—ๅŠ ใ—ใฆใใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็ฅž็ตŒ็—‡็Šถใ‚’ไผดใ‚ใชใ„ๆ‚ฃ่€…ใซใจใฃใฆใฏใ€่ก€็ฎก็ญ‹่„‚่‚ช่…ซใชใฉใฎ่…Ž็—…ๅค‰ใ‚„ใƒชใƒณใƒ‘่„ˆ็ฎก็ญ‹่…ซ็—‡๏ผˆLymphangioleiomyomatosis LAM๏ผ‰ใชใฉใฎ่‚บ็—…ๅค‰ใŒ็”Ÿๅ‘ฝไบˆๅพŒใ‚’ๅทฆๅณใ™ใ‚‹็—…ๅค‰ใจใ—ใฆ้‡่ฆใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚ใ•ใ‚‰ใซใ€็”Ÿๅ‘ฝไบˆๅพŒใซใฏ้–ขไธŽใ—ใชใ„ใŒ็šฎ่†š็—…ๅค‰็‰นใซ้ก”้ขใฎ่ก€็ฎก็ทš็ถญ่…ซใฏ็คพไผš็”Ÿๆดปใ‚’่กŒใ†ไธŠใงๆ‚ฃ่€…ใฎQOLใ‚’่‘—ใ—ใ้šœๅฎณใ—ใฆใ„ใ‚‹ใ€‚ๆœฌ็—‡ใฏใ“ใฎใ‚ˆใ†ใซใ€็šฎ่†šใ€ไธญๆžข็ฅž็ตŒ็ณปใ€็›ฎใ€่…Žใ€ๅฟƒใ€่‚บใ€็ญ‰ใปใผๅ…จ่บซใซ็จฎใ€…ใฎ้Ž่ชค่…ซใ‚’ๅฝขๆˆใ™ใ‚‹ใจๅŒๆ™‚ใซใ€่‡ช้–‰็—‡ใ‚’ๅซใ‚ใŸ็™บ้”้šœๅฎณใฎๅˆไฝตใ‚‚้ซ˜็Ž‡ใซ็”Ÿใ˜ใ€ใ—ใ‹ใ‚‚ใ€ๆœฌ็—‡ใงใฏใ€่‡จๅบŠ็—‡็Šถใฎ็จ‹ๅบฆใซใฏใฐใ‚‰ใคใใŒๅคšใใ€้‡็—‡ๅบฆใฎ็•ฐใชใ‚‹็จฎใ€…ใฎ็—…ๅค‰ใŒ็”Ÿๆถฏใซใ‚ใŸใ‚‹่‰ฒใ€…ใชๆ™‚ๆœŸใซใŠใ“ใฃใฆใใ‚‹ใจใ„ใ†ๆ™‚้–“็š„ใ€็ฉบ้–“็š„ใ€็จฎ้กžใ€็จ‹ๅบฆใฎๅคšๆง˜ๆ€งใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200826" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tuberous sclerosis complex"@en, "ใ‘ใฃใ›ใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "TSC"@en, "Tuberous sclerosis"@en ; + skos:closeMatch obo:MONDO_0001734, obo:MONDO_0019341 ; skos:prefLabel "็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡"@ja . -:2200827 - :hasNotificationNumber "26" ; - terms:description "็šฎ่†šใฎ่‰ฒ็ด ๆ€งๆฏๆ–‘ใจไธญๆžข็ฅž็ตŒ็ณปใฎ่ปŸ่†œ๏ผˆ้ซ„่†œ๏ผ‰ใƒกใƒฉใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200827" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "็šฎ่†šใฎ่‰ฒ็ด ๆ€งๆฏๆ–‘ใจไธญๆžข็ฅž็ตŒ็ณปใฎ่ปŸ่†œ๏ผˆ้ซ„่†œ๏ผ‰ใƒกใƒฉใƒŽใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200827" ; + dcterms:source ; a owl:Class ; - rdfs:label "neurocutaneous melanosis"@en, "็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009578 ; + rdfs:label "Neurocutaneous melanosis"@en, "ใ—ใ‚“ใ‘ใ„ใฒใตใ“ใใ—ใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009578 ; skos:prefLabel "็ฅž็ตŒ็šฎ่†š้ป’่‰ฒ็—‡"@ja . -:2200828 - :hasNotificationNumber "25" ; - terms:description "Gorlin็—‡ๅ€™็พค๏ผˆใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค๏ผ‰ใฏ1960ๅนดGorlin RJใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็™บ้”ไธŠใฎๅฅ‡ๅฝขใจ้บไผๆ€ง้ซ˜็™บ็™Œๆ€งใ‚’ไฝตใ›ๆŒใค็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅˆฅๅๆฏๆ–‘ๅŸบๅบ•็ดฐ่ƒž็™Œ็—‡ๅ€™็พคใ€ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พคใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็™บ้”ไธŠใฎๅฅ‡ๅฝขใซใฏๆ‰‹ๆŽŒใƒป่ถณๅบ•็šฎ่†šๅฐ้™ฅๅ‡นใ€ไบŒๅˆ†่‚‹้ชจใชใ„ใ—็™’ๅˆ่‚‹้ชจใ€ๆคŽ้ชจ็•ฐๅธธใ€้กŽ้ชจๅšข่ƒžใ€ๅคง่„ณ้ŽŒ็Ÿณ็ฐๅŒ–ใŒใ‚ใ‚Šใ€็™บ็™ŒใซใฏๅŸบๅบ•็ดฐ่ƒž็™Œใ€้ซ„่Šฝ่…ซใ€ๅตๅทฃ่…ซ็˜ใฎ็™บ็”Ÿ ใŒใ‚ˆใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸGorlin็—‡ๅ€™็พคใงใฏๆ—ฉๆœŸ่จบๆ–ญใ€ๆ—ฉๆœŸๆฒป็™‚ใŒๆœ›ใพใ—ใ„ใŒใ€็—‡็ŠถใŒๅ…จ่บซใซใ‚ใŸใ‚‹ใŸใ‚่จบ็™‚ๅ„็ง‘ใ‚’ๅ›žใ‚Š่จบๆ–ญใŒ้…ใ‚Œใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200828" ; - terms:source ; - a owl:Class ; - rdfs:label "Gorlin syndrome"@en, "ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Gorlin็—‡ๅ€™็พค"@ja, "basal cell nevus syndrome"@en, "ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007187 ; + + nando:hasNotificationNumber "25" ; + dcterms:description "Gorlin็—‡ๅ€™็พค๏ผˆใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค๏ผ‰ใฏ1960ๅนดGorlin RJใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็™บ้”ไธŠใฎๅฅ‡ๅฝขใจ้บไผๆ€ง้ซ˜็™บ็™Œๆ€งใ‚’ไฝตใ›ๆŒใค็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅˆฅๅๆฏๆ–‘ๅŸบๅบ•็ดฐ่ƒž็™Œ็—‡ๅ€™็พคใ€ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พคใชใฉใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚็™บ้”ไธŠใฎๅฅ‡ๅฝขใซใฏๆ‰‹ๆŽŒใƒป่ถณๅบ•็šฎ่†šๅฐ้™ฅๅ‡นใ€ไบŒๅˆ†่‚‹้ชจใชใ„ใ—็™’ๅˆ่‚‹้ชจใ€ๆคŽ้ชจ็•ฐๅธธใ€้กŽ้ชจๅšข่ƒžใ€ๅคง่„ณ้ŽŒ็Ÿณ็ฐๅŒ–ใŒใ‚ใ‚Šใ€็™บ็™ŒใซใฏๅŸบๅบ•็ดฐ่ƒž็™Œใ€้ซ„่Šฝ่…ซใ€ๅตๅทฃ่…ซ็˜ใฎ็™บ็”Ÿ ใŒใ‚ˆใ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใพใŸGorlin็—‡ๅ€™็พคใงใฏๆ—ฉๆœŸ่จบๆ–ญใ€ๆ—ฉๆœŸๆฒป็™‚ใŒๆœ›ใพใ—ใ„ใŒใ€็—‡็ŠถใŒๅ…จ่บซใซใ‚ใŸใ‚‹ใŸใ‚่จบ็™‚ๅ„็ง‘ใ‚’ๅ›žใ‚Š่จบๆ–ญใŒ้…ใ‚Œใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200828" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gorlin syndrome"@en, "ใ”ใƒผใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Basal cell nevus syndrome"@en, "Gorlin็—‡ๅ€™็พค"@ja, "ๅŸบๅบ•็ดฐ่ƒžๆฏๆ–‘็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007187 ; skos:prefLabel "ใ‚ดใƒผใƒชใƒณ็—‡ๅ€™็พค"@ja . -:2200829 - :hasNotificationNumber "28" ; - terms:description "ไธญๆžข็ฅž็ตŒ็ณปใฎ่ก€็ฎก่Šฝ่…ซใ€็ถฒ่†œ่ก€็ฎก่…ซใ€่…Ž็ดฐ่ƒžใ‚ฌใƒณใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€่†ต็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎๅคš็™บ่…ซ็˜ๆ€ง็–พๆ‚ฃใ€‚่…ซ็˜ใฏๅคš็™บๆ€งใƒปๅ†็™บๆ€งใงใ€ๅคš่ก€็—‡ใ€้ซ˜่ก€ๅœงใซๅŠ ใˆใฆใ€่ฆ–ๅŠ›้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่†€่ƒฑ็›ด่…ธ้šœๅฎณใ€่…Žไธๅ…จใ€ไธๅฆŠ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่…Ž็ดฐ่ƒžใ‚ฌใƒณใฎไธ€้ƒจใฏไป–่‡“ๅ™จ่ปข็งปใ—ๆญปไบกๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200829" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็ณปใฎ่ก€็ฎก่Šฝ่…ซใ€็ถฒ่†œ่ก€็ฎก่…ซใ€่…Ž็ดฐ่ƒžใ‚ฌใƒณใ€่ค่‰ฒ็ดฐ่ƒž่…ซใ€่†ต็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎๅคš็™บ่…ซ็˜ๆ€ง็–พๆ‚ฃใ€‚่…ซ็˜ใฏๅคš็™บๆ€งใƒปๅ†็™บๆ€งใงใ€ๅคš่ก€็—‡ใ€้ซ˜่ก€ๅœงใซๅŠ ใˆใฆใ€่ฆ–ๅŠ›้šœๅฎณใ€้‹ๅ‹•้šœๅฎณใ€่†€่ƒฑ็›ด่…ธ้šœๅฎณใ€่…Žไธๅ…จใ€ไธๅฆŠ็—‡ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚่…Ž็ดฐ่ƒžใ‚ฌใƒณใฎไธ€้ƒจใฏไป–่‡“ๅ™จ่ปข็งปใ—ๆญปไบกๅŽŸๅ› ใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200829" ; + dcterms:source ; a owl:Class ; - rdfs:label "von Hippel-Lindau disease"@en, "ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "von Hippel-Lindau disease"@en, "ใตใ‰ใ‚“ใฒใฃใบใ‚‹ใƒปใ‚Šใ‚“ใฉใ†ใณใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "von Hippel-Lindau็—…"@ja ; - skos:closeMatch mondo:MONDO_0008667 ; + skos:closeMatch obo:MONDO_0008667 ; skos:prefLabel "ใƒ•ใ‚ฉใƒณใƒ’ใƒƒใƒšใƒซใƒปใƒชใƒณใƒ‰ใ‚ฆ็—…"@ja . -:2200830 - :hasNotificationNumber "27" ; - terms:description "ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€้ ญ่“‹ๅ†…่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘๏ผˆๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใ€็ท‘ๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฎ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใฎใซๅฏพใ—ใ€ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใงใฏ้บไผๆ€งใ‚’็คบใ—ใŸไพ‹ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚็—…ๆ…‹ใฎๅŸบๆœฌใฏ้™่„ˆ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚‹ๅพช็’ฐไธๅ…จใงใ‚ใ‚Šใ€่„ณใ€็šฎ่†šใŠใ‚ˆใณ็œผใฎๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใซใ‚ˆใ‚Š่จบๆ–ญใŒใชใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠไธŠใฎๅ•้กŒ็‚นใฏใ€ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใ€ใŠใ‚ˆใณ่ฆ–ๅŠ›ใƒป่ฆ–้‡Ž้šœๅฎณใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒไธปใงใ‚ใ‚‹ใŒใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ‚‚ๆ‚ฃ่€…ใฎ็ฒพ็ฅž็š„่‹ฆๆ‚ฉใฎๅŽŸๅ› ใซใชใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏ้€ฒ่กŒๆ€งใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ“ใจใŒๅคšใใ€ไบˆๅพŒใซๆœ€ใ‚‚ๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใ€9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซๅญ˜ๅœจใ™ใ‚‹GNAQ้บไผๅญใฎๅ˜ไธ€ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ใ€ใƒขใ‚ถใ‚คใ‚ฏๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‚ˆใ‚Šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็ต„็น”ใ‹ใ‚‰ใฎ่จบๆ–ญใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200830" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€้ ญ่“‹ๅ†…่ปŸ่†œ่ก€็ฎก่…ซใจใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘๏ผˆๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข๏ผ‰ใ€็ท‘ๅ†…้šœใ‚’็‰นๅพดใจใ™ใ‚‹็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฎ็ฅž็ตŒ็šฎ่†š็—‡ๅ€™็พคใŒๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใฎใซๅฏพใ—ใ€ใ‚นใ‚ฟใƒผใ‚ธใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใงใฏ้บไผๆ€งใ‚’็คบใ—ใŸไพ‹ใฎๅ ฑๅ‘Šใฏใชใ„ใ€‚็—…ๆ…‹ใฎๅŸบๆœฌใฏ้™่„ˆ็™บ็”Ÿ้šœๅฎณใซใ‚ˆใ‚‹ๅพช็’ฐไธๅ…จใงใ‚ใ‚Šใ€่„ณใ€็šฎ่†šใŠใ‚ˆใณ็œผใฎๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝขใซใ‚ˆใ‚Š่จบๆ–ญใŒใชใ•ใ‚Œใ‚‹ใ€‚่‡จๅบŠไธŠใฎๅ•้กŒ็‚นใฏใ€ใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้‹ๅ‹•้บป็—บใ€ใŠใ‚ˆใณ่ฆ–ๅŠ›ใƒป่ฆ–้‡Ž้šœๅฎณใชใฉใฎ็ฅž็ตŒ็—‡็ŠถใŒไธปใงใ‚ใ‚‹ใŒใ€้ก”้ขใƒใƒผใƒˆใƒฏใ‚คใƒณๆ–‘ใ‚‚ๆ‚ฃ่€…ใฎ็ฒพ็ฅž็š„่‹ฆๆ‚ฉใฎๅŽŸๅ› ใซใชใ‚‹ใ€‚็ฅž็ตŒ็—‡็Šถใฏ้€ฒ่กŒๆ€งใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ“ใจใŒๅคšใใ€ไบˆๅพŒใซๆœ€ใ‚‚ๅฝฑ้Ÿฟใ‚’ไธŽใˆใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€่ฟ‘ๅนดใ€9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซๅญ˜ๅœจใ™ใ‚‹GNAQ้บไผๅญใฎๅ˜ไธ€ใƒŒใ‚ฏใƒฌใ‚ชใƒใƒ‰ใ€ใƒขใ‚ถใ‚คใ‚ฏๅค‰็•ฐใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใใ‚Œใ‚ˆใ‚Šๆฏ›็ดฐ่ก€็ฎกๅฅ‡ๅฝข็ต„็น”ใ‹ใ‚‰ใฎ่จบๆ–ญใŒๆœŸๅพ…ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200830" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sturge-Weber syndrome"@en, "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Sturge-Weber syndrome"@en, "ใ™ใŸใƒผใ˜ใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Sturge-Weber็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008501 ; + skos:closeMatch obo:MONDO_0008501 ; skos:prefLabel "ใ‚นใ‚ฟใƒผใ‚ธใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja . -:2200831 - :hasNotificationNumber "56" ; - terms:description "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚จใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅ…†ๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200831" ; - terms:source ; + + nando:hasNotificationNumber "56" ; + dcterms:description "1904ๅนดใซใƒ‰ใ‚คใƒ„ใฎๅŒปๅธซใ‚ชใƒƒใƒˆใƒผใƒปใ‚ฆใ‚จใƒซใƒŠใƒผใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใ€‚ๆ€ๆ˜ฅๆœŸไปฅ้™ใซใ€็™ฝ้ซชใ€็™ฝๅ†…้šœใชใฉใ•ใพใ–ใพใช่€ๅŒ–ๅ…†ๅ€™ใŒๅ‡บ็พใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฃ่กจ็š„ใชใ€Œๆ—ฉ่€็—‡ๅ€™็พคใ€ใฎไธ€ใคใซๆ•ฐใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200831" ; + dcterms:source ; a owl:Class ; - rdfs:label "Werner syndrome"@en, "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Werner syndrome"@en, "ใ†ใ‡ใ‚‹ใชใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Werner็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010196 ; + skos:closeMatch obo:MONDO_0010196 ; skos:prefLabel "ใ‚ฆใ‚งใƒซใƒŠใƒผ็—‡ๅ€™็พค"@ja . -:2200832 - :hasNotificationNumber "57" ; - terms:description "DNAไฟฎๅพฉ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒใŒ้šœๅฎณใ•ใ‚Œ้€ฒ่กŒๆ€งใซ้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่…Žไธๅ…จใ€้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้€ฒ่กŒใซใ‚ˆใ‚Š้‡ๅบฆใฎ่บซไฝ“้šœๅฎณใ‚’ๆฅใŸใ—ใ€10๏ฝž20ๆญณไปฃใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2200832" ; - terms:source ; + + nando:hasNotificationNumber "57" ; + dcterms:description "DNAไฟฎๅพฉ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใ‚ŠไธญๆžขใŠใ‚ˆใณๆœซๆขข็ฅž็ตŒใŒ้šœๅฎณใ•ใ‚Œ้€ฒ่กŒๆ€งใซ้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€่…Žไธๅ…จใ€้›ฃ่ดใ€่ฆ–ๅŠ›้šœๅฎณใ€ๆญฉ่กŒ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใฎ้€ฒ่กŒใซใ‚ˆใ‚Š้‡ๅบฆใฎ่บซไฝ“้šœๅฎณใ‚’ๆฅใŸใ—ใ€10๏ฝž20ๆญณไปฃใงๆญปไบกใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200832" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cockayne syndrome"@en, "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Cockayne syndrome"@en, "ใ“ใ‘ใ„ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Cockayne็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0016006 ; + skos:closeMatch obo:MONDO_0016006 ; skos:prefLabel "ใ‚ณใ‚ฑใ‚คใƒณ็—‡ๅ€™็พค"@ja . -:2200833 - :hasNotificationNumber "58" ; - terms:description "็”ŸๅพŒๅŠๅนด๏ฝž2ๅนดใ‚ˆใ‚Šๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽใ€ๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ ่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ13ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200833" ; - terms:source ; + + nando:hasNotificationNumber "58" ; + dcterms:description "็”ŸๅพŒๅŠๅนด๏ฝž2ๅนดใ‚ˆใ‚Šๆฐด้ ญ็—‡ๆง˜้ก”่ฒŒใ€็ฆฟ้ ญใ€่„ฑๆฏ›ใ€ๅฐ้กŽใ€ๅผท็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€็ฒพ็ฅž้‹ๅ‹•ๆฉŸ่ƒฝใ‚„็Ÿฅ่ƒฝใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ ่„ณๆข—ๅกžใ€ๅ† ๅ‹•่„ˆ็–พๆ‚ฃใ€ๅฟƒ่‡“ๅผ่†œ็—‡ใ€้ซ˜่ก€ๅœงใ€่€็ณ–่ƒฝ้šœๅฎณใ€ๆ€ง่…บๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅˆไฝตใ—ๅนณๅ‡ๅฏฟๅ‘ฝใฏ13ๆญณใจๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200833" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hutchinson-Gilford syndrome"@en, "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Hutchinson-Gilford syndrome"@en, "ใฏใฃใกใ‚“ใใ‚“ใƒปใŽใ‚‹ใตใ‰ใƒผใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "HGPS"@en, "Hutchinson-Gilford progeria syndrome"@en ; - skos:closeMatch mondo:MONDO_0008310 ; + skos:closeMatch obo:MONDO_0008310 ; skos:prefLabel "ใƒใƒƒใƒใƒณใ‚ฝใƒณใƒปใ‚ฎใƒซใƒ•ใ‚ฉใƒผใƒ‰็—‡ๅ€™็พค"@ja . -:2200834 - :hasNotificationNumber "3" ; - terms:description "ใ‚ซใƒŠใƒใƒณ็—…ใฏaspartoacylase(ASPA)ใฎๆฌ ๆใซใ‚ˆใ‚‹N-acetyl-aspartate(NAA)ใฎ่“„็ฉใŒใ€้€ฒ ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ1ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฏ10ๅนดไปฅๅ†…ใซๆญปไบกใ—ใ€่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚"@ja ; - terms:identifier "2200834" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "ใ‚ซใƒŠใƒใƒณ็—…ใฏaspartoacylase(ASPA)ใฎๆฌ ๆใซใ‚ˆใ‚‹N-acetyl-aspartate(NAA)ใฎ่“„็ฉใŒใ€้€ฒ ่กŒๆ€งใฎไธญๆžข็ฅž็ตŒ็ณป้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹็™ฝ่ณชๅค‰ๆ€ง็—‡ใฎ1ใคใงใ‚ใ‚‹ใ€‚ๅคšใใฏ10ๅนดไปฅๅ†…ใซๆญปไบกใ—ใ€่จบๆ–ญใฏๅฐฟไธญใฎNAAใฎ่‘—ๆ˜ŽใชไธŠๆ˜‡๏ผˆๆญฃๅธธไธŠ้™ใฎ20ๅ€ไปฅไธŠ๏ผ‰ใ€็šฎ่†š็ทš็ถญ่Šฝ ็ดฐ่ƒžไธญใฎASPAๆดปๆ€งใฎไฝŽไธ‹ใ€็‰นๅพด็š„ใช็”ปๅƒๆ‰€่ฆ‹๏ผˆ้ ญ้ƒจMRIไธŠใฎ็™ฝ่ณช็—…ๅค‰๏ผ‰ใ‹ใ‚‰่กŒใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200834" ; + dcterms:source ; a owl:Class ; - rdfs:label "Canavan disease"@en, "ใ‚ซใƒŠใƒใƒณ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Canavan disease"@en, "ใ‹ใชใฐใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ซใƒŠใƒใƒณ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Canavan็—…"@ja ; - skos:closeMatch mondo:MONDO_0010079 ; + skos:closeMatch obo:MONDO_0010079 ; skos:prefLabel "ใ‚ซใƒŠใƒใƒณ็—…"@ja . -:2200835 - :hasNotificationNumber "2" ; - terms:description "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ(GFAP)ใ€ฮฑB-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑ ใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ๆ˜Ÿ็Šถ่† ็ดฐ่ƒžใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ๅธŒใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็Šถใ€MRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹(1ๅž‹)ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹(2ๅž‹)ใ€ไธญ้–“ๅž‹(3ๅž‹)ใซๅˆ†้กžใงใใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใงGFAP้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆไธปๆตใซใชใฃใฆใ„ใ‚‹ใ€‚1ๅž‹ใงใฏR79ใ€R88ใ€R239ใŒGFAP้บไผๅญๅค‰็•ฐใฎ็ด„75๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใŒใ€2ๅž‹ใงใฏ็‰นใซ้ ปๅบฆใฎ้ซ˜ใ„ๅค‰็•ฐใฏ่ชใ‚ใชใ„ใ€‚็—…ๆ…‹ใฏใพใ ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใ‚‚ใชใใ€้•ทๆœŸใซใ‚ใŸใ‚‹็™‚้คŠ็”Ÿๆดปใ‚’ๅฟ…่ฆใจใ™ใ‚‹้›ฃๆฒปๆ€ง็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200835" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "็—…็†ๅญฆ็š„ใซใ‚ฐใƒชใ‚ข็ทš็ถญๆ€ง้…ธๆ€ง่›‹็™ฝ(GFAP)ใ€ฮฑB-ใ‚ฏใƒชใ‚นใ‚ฟใƒชใƒณใ€็†ฑ ใ‚ทใƒงใƒƒใ‚ฏ่›‹็™ฝใชใฉใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹ใƒญใƒผใ‚ผใƒณใ‚ฟใƒซ็ทš็ถญใ‚’ๆ˜Ÿ็Šถ่† ็ดฐ่ƒžใซ่ชใ‚ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹ๅธŒใช้บไผๆ€ง็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็š„ใซใฏ่‡จๅบŠ็—‡็Šถใ€MRI็”ปๅƒๆ‰€่ฆ‹ใ‚ˆใ‚Šๅคง่„ณๅ„ชไฝๅž‹(1ๅž‹)ใ€ๅปถ้ซ„ใƒป่„Š้ซ„ๅ„ชไฝๅž‹(2ๅž‹)ใ€ไธญ้–“ๅž‹(3ๅž‹)ใซๅˆ†้กžใงใใ‚‹ใ€‚ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…ใฎ97๏ผ…ใงGFAP้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€่ฟ‘ๅนดใงใฏ้บไผๅญๆคœๆŸปใŒ็ขบๅฎš่จบๆ–ญๆณ•ใจใ—ใฆไธปๆตใซใชใฃใฆใ„ใ‚‹ใ€‚1ๅž‹ใงใฏR79ใ€R88ใ€R239ใŒGFAP้บไผๅญๅค‰็•ฐใฎ็ด„75๏ผ…ใ‚’ๅ ใ‚ใฆใ„ใ‚‹ใŒใ€2ๅž‹ใงใฏ็‰นใซ้ ปๅบฆใฎ้ซ˜ใ„ๅค‰็•ฐใฏ่ชใ‚ใชใ„ใ€‚็—…ๆ…‹ใฏใพใ ่งฃๆ˜Žใ•ใ‚ŒใฆใŠใ‚‰ใšใ€ๅŠนๆžœ็š„ใชๆฒป็™‚ๆ–นๆณ•ใ‚‚ใชใใ€้•ทๆœŸใซใ‚ใŸใ‚‹็™‚้คŠ็”Ÿๆดปใ‚’ๅฟ…่ฆใจใ™ใ‚‹้›ฃๆฒปๆ€ง็ฅž็ตŒ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200835" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alexander disease"@en, "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Alexander disease"@en, "ใ‚ใ‚Œใใ•ใ‚“ใ ใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Alexander็—…"@ja ; - skos:closeMatch mondo:MONDO_0008752 ; + skos:closeMatch obo:MONDO_0008752 ; skos:prefLabel "ใ‚ขใƒฌใ‚ญใ‚ตใƒณใƒ€ใƒผ็—…"@ja . -:2200836 - :hasNotificationNumber "4" ; - terms:description "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1;11็–พๆ‚ฃใจๅŽŸๅ› ้บไผๅญ๏ผ‰ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)MCT8ๆฌ ๆ็—‡(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - terms:identifier "2200836" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ไธญๆžข็ฅž็ตŒ็ณปใฎ้ซ„้ž˜ใฎๅฝขๆˆไธๅ…จใซใ‚ˆใ‚Šๅคง่„ณ็™ฝ่ณชใŒๅๅˆ†ใซๆง‹็ฏ‰ใ•ใ‚Œใชใ„ใ“ใจใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็”Ÿ็›ดๅพŒใ‹ใ‚‰ใฎ็œผๆŒฏใจ็™บ้”้…ๆปžใ€็—™ๆ€งๅ››่‚ข้บป็—บใ€ๅฐ่„ณๅคฑ่ชฟใ‚„ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใชใฉใฎ็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ไปฃ่กจ็š„ใชใ‚‚ใฎใฏใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…๏ผˆPMD๏ผ‰ใงใ‚ใ‚‹ใ€‚PMDใ‚’ๅซใ‚ใ€ไธ‹่จ˜ใฎใ“ใ‚Œใพใงใซ11็–พๆ‚ฃใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1;11็–พๆ‚ฃใจๅŽŸๅ› ้บไผๅญ๏ผ‰ใ€‚(๏ผ‘)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…(๏ผ’)ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘(๏ผ“)ๅŸบๅบ•ๆ ธๅŠใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(๏ผ”)18qๆฌ ๅคฑ็—‡ๅ€™็พค(๏ผ•)MCT8ๆฌ ๆ็—‡(๏ผ–)Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ๏ผˆchaperon๏ผ‰็—…(๏ผ—)ใ‚ตใƒฉ็—…(๏ผ˜)ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณๆผซๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡(๏ผ™)ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(10)ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡(11)่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + dcterms:identifier "NANDO:2200836" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital hypomyelinating leukodystrophy"@en, "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Congenital hypomyelinating leukodystrophy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019046 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja . -:2200837 - :hasNotificationNumber "6" ; - terms:description "็จ€ใช็™ฝ่ณช่Ž็ธฎ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ1ๆญณใพใงใซๅคง้ ญ็—‡ใ€ๆ•ฐๅนดๅพŒใซๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็—™ๆ€งใŒๅ‡บ็พใ—ใ€้€€่กŒใ—ใฆใ„ใใ€‚้ ญ้ƒจMRIใงใ€ใณใพใ‚“ๆ€งใฎ่…ซ่„นใ€ๅฐ่„ณ็™ฝ่ณชใฎ่…ซ่„นใ€ๅด้ ญ่‘‰ๅ‰้ƒจใ‚„ๅ‰้ ญ้ ญ้ ‚้ƒจใซ็šฎ่ณชไธ‹ๅšข่ƒžใŒใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡็Šถใจ็‰นๅพด็š„ใช้ ญ้ƒจMRIๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใ™ใ‚‹ใ€‚MLC้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC1ใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC2Aใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLCใฎใ†ใก่ปฝ็—‡ใฎMLC2Bใฎ3ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200837" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "็จ€ใช็™ฝ่ณช่Ž็ธฎ็—‡ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚็”ŸๅพŒ1ๆญณใพใงใซๅคง้ ญ็—‡ใ€ๆ•ฐๅนดๅพŒใซๅฐ่„ณๅคฑ่ชฟใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€็—™ๆ€งใŒๅ‡บ็พใ—ใ€้€€่กŒใ—ใฆใ„ใใ€‚้ ญ้ƒจMRIใงใ€ใณใพใ‚“ๆ€งใฎ่…ซ่„นใ€ๅฐ่„ณ็™ฝ่ณชใฎ่…ซ่„นใ€ๅด้ ญ่‘‰ๅ‰้ƒจใ‚„ๅ‰้ ญ้ ญ้ ‚้ƒจใซ็šฎ่ณชไธ‹ๅšข่ƒžใŒใ‚ใ‚‹ใ€‚ๅ…ธๅž‹็š„ใช่‡จๅบŠ็—‡็Šถใจ็‰นๅพด็š„ใช้ ญ้ƒจMRIๆ‰€่ฆ‹ใ‹ใ‚‰่จบๆ–ญใ™ใ‚‹ใ€‚MLC้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC1ใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLC2Aใ€HEPACAM้บไผๅญ็•ฐๅธธใ‚’ไผดใ†MLCใฎใ†ใก่ปฝ็—‡ใฎMLC2Bใฎ3ใคใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200837" ; + dcterms:source ; a owl:Class ; - rdfs:label "megaloencephalic leukoencephalopathy with subcortical cysts"@en, "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Megaloencephalic leukoencephalopathy with subcortical cysts"@en, "ใฒใ—ใคใ‹ใฎใ†ใปใ†ใ‚’ใ‚‚ใคใ ใ„ใจใ†ใŒใŸใฏใใ—ใคใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011391 ; skos:prefLabel "็šฎ่ณชไธ‹ๅšข่ƒžใ‚’ใ‚‚ใคๅคง้ ญๅž‹็™ฝ่ณช่„ณ็—‡"@ja . -:2200838 - :hasNotificationNumber "5" ; - terms:description "Vanishing white matter disease๏ผˆไปฅไธ‹ใ€VWM๏ผ‰ใฏใ€ๅฐ่„ณๅคฑ่ชฟใ‚„็—™ๆ€ง้บป็—บใŒ็ทฉๅพใซ้€ฒ่กŒใ—ใ€ๆ„ŸๆŸ“ใ‚„้ ญ้ƒจๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใซ็—‡็ŠถใŒๆ€ฅๆ€งๅข—ๆ‚ชใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใ€ๅคง่„ณ็™ฝ่ณชๅ…จไฝ“ใ‚ใ‚‹ใ„ใฏใใฎไธ€้ƒจใŒใ€่„ณ่„Š้ซ„ๆถฒใจใปใผๅŒใ˜ไฟกๅทๅผทๅบฆใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚Childhood ataxia with central nervous system hypomyelination (CACH)ใจใ‚‚ๅ‘ผใฐใ‚Œใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใ€ๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200838" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "Vanishing white matter disease๏ผˆไปฅไธ‹ใ€VWM๏ผ‰ใฏใ€ๅฐ่„ณๅคฑ่ชฟใ‚„็—™ๆ€ง้บป็—บใŒ็ทฉๅพใซ้€ฒ่กŒใ—ใ€ๆ„ŸๆŸ“ใ‚„้ ญ้ƒจๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใซ็—‡็ŠถใŒๆ€ฅๆ€งๅข—ๆ‚ชใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้ ญ้ƒจMRIใงใ€ๅคง่„ณ็™ฝ่ณชๅ…จไฝ“ใ‚ใ‚‹ใ„ใฏใใฎไธ€้ƒจใŒใ€่„ณ่„Š้ซ„ๆถฒใจใปใผๅŒใ˜ไฟกๅทๅผทๅบฆใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚Childhood ataxia with central nervous system hypomyelination (CACH)ใจใ‚‚ๅ‘ผใฐใ‚Œใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใŒใ€่ฟ‘ๅนดใ€ๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200838" ; + dcterms:source ; a owl:Class ; - rdfs:label "vanishing white matter disease"@en, "็™ฝ่ณชๆถˆๅคฑ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011380 ; + rdfs:label "Vanishing white matter disease"@en, "ใฏใใ—ใคใ—ใ‚‡ใ†ใ—ใคใณใ‚‡ใ†"@ja-Hira, "็™ฝ่ณชๆถˆๅคฑ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011380 ; skos:prefLabel "็™ฝ่ณชๆถˆๅคฑ็—…"@ja . -:2200839 - :hasNotificationNumber "8" ; - terms:description "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พค(X-linked ฮฑ-thalassemia/intellectual disability syndrome;ใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธ€ใคใงใ™ใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข(HbH็—…)ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ™ใ€‚ATRX้บไผๅญใŒใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ‚ฟใƒณใƒ‘ใ‚ฏATRXใฏใ‚ฏใƒญใƒžใƒใƒณใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐๅ› ๅญใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚ATRX้บไผๅญใฎๅค‰ๅŒ–ใซใ‚ˆใ‚Šใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚ฃใ‚ฏใ‚นๅˆถๅพกๆฉŸๆง‹ใฎ็ ด็ถปใŒ่ตทใ“ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญใฎ็™บ็พ็•ฐๅธธใฎใŸใ‚ใ€ๅคšๆง˜ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚่ฟ‘ๅนดใ€ATRXใ‚ฟใƒณใƒ‘ใ‚ฏใŒใ€ใ‚ฒใƒŽใƒ ใฎ็‰นๅˆฅใชๆง‹้€ ๏ผˆG-quadruplex: G4ใ€ใ‚ฐใ‚ขใƒ‹ใƒณๅ››้‡้Ž–๏ผ‰ใซ็ตๅˆใ—ใ€่ฟ‘ๅ‚ใฎ้บไผๅญใฎ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใพใ—ใŸใ€‚็พๅœจใ€ใ“ใฎใƒกใ‚ซใƒ‹ใ‚บใƒ ใ‚’ๅˆฉ็”จใ—ใŸๆฒป็™‚่–ฌใฎ้–‹็™บใŒๆŽข็ดขใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; - terms:identifier "2200839" ; - terms:source ; - a owl:Class ; - rdfs:label "ATR-X syndrome"@en, "ATR-X็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "X-linked a-thalassemia/intellectual disability syndrome"@en ; - skos:closeMatch mondo:MONDO_0010519 ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ATR-X๏ผˆX้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž๏ผ‰็—‡ๅ€™็พค(X-linked ฮฑ-thalassemia/intellectual disability syndrome;ใฏใ€XๆŸ“่‰ฒไฝ“ใซๅฑ€ๅœจใ™ใ‚‹ATRX้บไผๅญใ‚’่ฒฌไปป้บไผๅญใจใ™ใ‚‹ใ€XๆŸ“่‰ฒไฝ“้€ฃ้Ž–ๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธ€ใคใงใ™ใ€‚็”ทๆ€งใง็™บ็—‡ใ—ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ข(HbH็—…)ใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅค–ๆ€งๅ™จ็•ฐๅธธใ€้ชจๆ ผ็•ฐๅธธใ€็‹ฌ็‰นใฎ่กŒๅ‹•ใƒปๅงฟๅ‹ข็•ฐๅธธใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ™ใ€‚ATRX้บไผๅญใŒใ‚ณใƒผใƒ‰ใ—ใฆใ„ใ‚‹ใ‚ฟใƒณใƒ‘ใ‚ฏATRXใฏใ‚ฏใƒญใƒžใƒใƒณใƒชใƒขใƒ‡ใƒชใƒณใ‚ฐๅ› ๅญใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚ATRX้บไผๅญใฎๅค‰ๅŒ–ใซใ‚ˆใ‚Šใ€ใ‚จใƒ”ใ‚ธใ‚งใƒใƒ†ใ‚ฃใ‚ฏใ‚นๅˆถๅพกๆฉŸๆง‹ใฎ็ ด็ถปใŒ่ตทใ“ใ‚Šใ€่ค‡ๆ•ฐใฎ้บไผๅญใฎ็™บ็พ็•ฐๅธธใฎใŸใ‚ใ€ๅคšๆง˜ใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใพใ™ใ€‚่ฟ‘ๅนดใ€ATRXใ‚ฟใƒณใƒ‘ใ‚ฏใŒใ€ใ‚ฒใƒŽใƒ ใฎ็‰นๅˆฅใชๆง‹้€ ๏ผˆG-quadruplex: G4ใ€ใ‚ฐใ‚ขใƒ‹ใƒณๅ››้‡้Ž–๏ผ‰ใซ็ตๅˆใ—ใ€่ฟ‘ๅ‚ใฎ้บไผๅญใฎ็™บ็พ่ชฟ็ฏ€ใซ้–ขใ‚ใฃใฆใ„ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใพใ—ใŸใ€‚็พๅœจใ€ใ“ใฎใƒกใ‚ซใƒ‹ใ‚บใƒ ใ‚’ๅˆฉ็”จใ—ใŸๆฒป็™‚่–ฌใฎ้–‹็™บใŒๆŽข็ดขใ•ใ‚Œใฆใ„ใพใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200839" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ATR-X syndrome"@en, "ATR-X็—‡ๅ€™็พค"@ja, "ใˆใƒผใฆใƒใƒผใ‚ใƒผใ‚‹ใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "X-linked a-thalassemia/intellectual disability syndrome"@en, "X้€ฃ้Ž–ฮฑใ‚ตใƒฉใ‚ปใƒŸใ‚ขใƒป็ฒพ็ฅž้…ๆปž็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010519 ; skos:prefLabel "ATR-X็—‡ๅ€™็พค"@ja . -:2200840 - :hasNotificationNumber "35" ; - terms:description "X ๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎ FMR1 ้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50 ใ‹ใ‚‰ 200 ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑ X ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ 200 ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑ X ็—‡ๅ€™็พคใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200840" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "X ๆŸ“่‰ฒไฝ“้•ท่…•ๆœซ็ซฏ้ƒจใฎ FMR1 ้บไผๅญใซๅญ˜ๅœจใ™ใ‚‹๏ผ“ๅกฉๅŸบ๏ผˆCGG๏ผ‰็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒใ€ไปฃใ‚’็ตŒใ‚‹ใ”ใจใซๅปถ้•ทใ™ใ‚‹ใŸใ‚ใซ็™บ็—‡ใ™ใ‚‹ใƒˆใƒชใƒ—ใƒฌใƒƒใƒˆใƒชใƒ”ใƒผใƒˆ็—…ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚50 ใ‹ใ‚‰ 200 ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใ‚’ใ‚‚ใคใƒ’ใƒˆใฎใชใ‹ใงใ€่„†ๅผฑ X ้šไผดๆŒฏๆˆฆ๏ผๅคฑ่ชฟ็—‡ๅ€™็พคใจใ„ใฃใŸ่„†ๅผฑ X ็—‡ๅ€™็พค้–ข้€ฃ็–พๆ‚ฃใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ CGG ็นฐใ‚Š่ฟ”ใ—้…ๅˆ—ใŒ 200 ใ‚’่ถ…ใˆใ‚‹ใจๅฐๅ…ๆœŸใ‹ใ‚‰็Ÿฅ็š„้šœๅฎณใ‚„็™บ้”้šœๅฎณใ‚’ไผดใ†ใ€่„†ๅผฑ X ็—‡ๅ€™็พคใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200840" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fragile X syndrome"@en, "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010383 ; + rdfs:label "Fragile X syndrome"@en, "ใœใ„ใ˜ใ‚ƒใใˆใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010383 ; skos:prefLabel "่„†ๅผฑ๏ผธ็—‡ๅ€™็พค"@ja . -:2200841 - :hasNotificationNumber "45" ; - terms:description "็ณ–่„‚่ณชใ‹ใ‚‰ใชใ‚‹GPIใ‚ขใƒณใ‚ซใƒผใฏใ€ใปไนณ้กžใฎ็ดฐ่ƒžใซใŠใ„ใฆใฏ150็จฎไปฅไธŠใฎ่›‹็™ฝ่ณชใฎ่†œ็ตๅˆใซ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰็จฎใ€…ใฎGPIใ‚ขใƒณใ‚ซใƒผๅž‹ใ‚ฟใƒณใƒ‘ใ‚ฏ่ณชใฏๅฐ่ƒžไฝ“ใงใ‚ฟใƒณใƒ‘ใ‚ฏ่ณช้ƒจๅˆ†ใจGPI ใ‚ขใƒณใ‚ซใƒผใŒๅˆฅใ€…ใซๅˆๆˆใ•ใ‚Œใฆ็ตๅˆใ—ใ€ๅฐ่ƒžไฝ“ใ‚„ใ‚ดใƒซใ‚ธไฝ“ใงไฟฎ้ฃพใ•ใ‚Œใฆใ€็ดฐ่ƒž่†œ่กจ้ขใซ่ผธ้€ใ•ใ‚Œใ‚‹ใŒใ€ๅ…ˆๅคฉ็š„ใช้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚Šใ“ใฎ้Ž็จ‹ใซ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใฎใŒใ€ๅ…ˆๅคฉๆ€งGPIๆฌ ๆ็—‡ (IGD)ใงใ‚ใ‚‹ใ€‚ใ€€IGDใงใฏใ€็Ÿฅ็š„้šœๅฎณใŒๅฟ…็™บใงใ‚ใ‚Šใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚„้ก”่ฒŒใƒปๆถˆๅŒ–็ฎกใƒป่…Žๅฐฟ่ทฏ็ณปใƒปๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใชใฉใฎๅฝขๆ…‹็•ฐๅธธใ€้›ฃ่ดใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏใ€้‡ๅบฆๅฟƒ่บซ้šœๅฎณๅ…ใƒป่€…ใจใชใ‚‹ใ€‚่จบๆ–ญใซใฏใ€้ก†็ฒ’็ƒใฎใƒ•ใƒญใƒผใ‚ตใ‚คใƒˆใƒกใƒˆใƒชใƒผใ€้บไผๅญๆคœๆŸปใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅMabry็—‡ๅ€™็พคใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€้ซ˜ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰่ก€็—‡ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใƒปใฆใ‚“ใ‹ใ‚“ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใŒIGDใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใ„ใ‚‹ใŒใ€ไปŠๅพŒใ‚‚ใ‚ชใƒผใƒใƒผใƒฉใƒƒใƒ—ใ™ใ‚‹็–พๆ‚ฃใŒ่ฆ‹ใคใ‹ใฃใฆใใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200841" ; - terms:source ; - a owl:Class ; - rdfs:label "Inherited GPI deficiency"@en, "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "GPIๆฌ ๆ็—‡"@ja, "IGD"@en ; - skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ฐใƒชใ‚ณใ‚ทใƒซใƒ›ใ‚นใƒ•ใ‚กใƒใ‚ธใƒซใ‚คใƒŽใ‚ทใƒˆใƒผใƒซๆฌ ๆ็—‡"@ja . - -:2200842 - :hasNotificationNumber "65" ; - terms:description "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค(cerebral creatine deficiency syndromes: CCDSs)ใฏใ€่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใซใ‚ˆใ‚Šใ€็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ/ใƒชใƒณ้…ธใ‚ฏใƒฌใ‚ขใƒใƒณ็ณปใฏ๏ผŒ่„ณใ‚„็ญ‹ใซใŠใ‘ใ‚‹ๅŒ–ๅญฆ็š„ใ‚จใƒใƒซใ‚ฎใƒผใฎ็ดฐ่ƒž่ณช่ฒฏ่”ตใฎ็ทฉ่ก็ณปใจใ—ใฆๅƒใ„ใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใ‚„่ผธ้€ใฎ้šœๅฎณใฏ่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใ‚’ใใŸใ—ใ€็Ÿฅ็š„้šœๅฎณใ€่จ€่ชž็™บ้”้…ๆปžใ€ใฆใ‚“ใ‹ใ‚“ใ‚’ๅผ•ใ่ตทใ“ใ™ใจใ€่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปข็งป้…ต็ด (GAMT)ๆฌ ๆ็—‡ใจใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆAGAT๏ผ‰ๆฌ ๆ็—‡ใฎ2็–พๆ‚ฃใ€ ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ไฝ“๏ผˆSLC6A8๏ผ‰ๆฌ ๆ็—‡ใฎ3็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚SLC6A8ๆฌ ๆ็—‡ใฏ้บไผๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธญใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใพใ™ใ€‚ใพใŸใ€GAMTๆฌ ๆ็—‡ใจAGATๆฌ ๆ็—‡ใฏใ€ใ‚ฏใƒฌใ‚ขใƒใƒณใฎ็ตŒๅฃๆŠ•ไธŽใŒๆœ‰ๅŠนใชใ€ๆฒป็™‚ๆ–นๆณ•ใฎใ‚ใ‚‹็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ใใฎๆ—ฉๆœŸ่จบๆ–ญใฏ้‡่ฆใงใ™ใ€‚"@ja ; - terms:identifier "2200842" ; - terms:source ; + + nando:hasNotificationNumber "80" ; + dcterms:description "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค(cerebral creatine deficiency syndromes: CCDSs)ใฏใ€่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใซใ‚ˆใ‚Šใ€็™บ็—‡ใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ/ใƒชใƒณ้…ธใ‚ฏใƒฌใ‚ขใƒใƒณ็ณปใฏ๏ผŒ่„ณใ‚„็ญ‹ใซใŠใ‘ใ‚‹ๅŒ–ๅญฆ็š„ใ‚จใƒใƒซใ‚ฎใƒผใฎ็ดฐ่ƒž่ณช่ฒฏ่”ตใฎ็ทฉ่ก็ณปใจใ—ใฆๅƒใ„ใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใ‚„่ผธ้€ใฎ้šœๅฎณใฏ่„ณๅ†…ใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไนใ‚’ใใŸใ—ใ€็Ÿฅ็š„้šœๅฎณใ€่จ€่ชž็™บ้”้…ๆปžใ€ใฆใ‚“ใ‹ใ‚“ใ‚’ๅผ•ใ่ตทใ“ใ™ใจใ€่€ƒใˆใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚ใ‚ฏใƒฌใ‚ขใƒใƒณ็”Ÿๅˆๆˆใฎ็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ฐใ‚ขใƒ‹ใ‚ธใƒŽ้…ข้…ธใƒกใƒใƒซๅŸบ่ปข็งป้…ต็ด (GAMT)ๆฌ ๆ็—‡ใจใ€ใ‚ขใƒซใ‚ฎใƒ‹ใƒณใƒปใ‚ฐใƒชใ‚ทใƒณใ‚ขใƒŸใ‚ธใƒŽๅŸบ่ปข็งป้…ต็ด ๏ผˆAGAT๏ผ‰ๆฌ ๆ็—‡ใฎ2็–พๆ‚ฃใ€ ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ใฎ้šœๅฎณใซใ‚ˆใ‚‹ใ‚ฏใƒฌใ‚ขใƒใƒณ่ผธ้€ไฝ“๏ผˆSLC6A8๏ผ‰ๆฌ ๆ็—‡ใฎ3็–พๆ‚ฃใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใพใ™ใ€‚SLC6A8ๆฌ ๆ็—‡ใฏ้บไผๆ€ง็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใฎไธญใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„็–พๆ‚ฃใฎไธ€ใคใจใ•ใ‚Œใฆใ„ใพใ™ใ€‚ใพใŸใ€GAMTๆฌ ๆ็—‡ใจAGATๆฌ ๆ็—‡ใฏใ€ใ‚ฏใƒฌใ‚ขใƒใƒณใฎ็ตŒๅฃๆŠ•ไธŽใŒๆœ‰ๅŠนใชใ€ๆฒป็™‚ๆ–นๆณ•ใฎใ‚ใ‚‹็Ÿฅ็š„้šœๅฎณ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€ใใฎๆ—ฉๆœŸ่จบๆ–ญใฏ้‡่ฆใงใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200842" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cerebral creatine deficiency syndrome"@en, "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000456 ; + rdfs:label "Cerebral creatine deficiency syndrome"@en, "ใฎใ†ใใ‚Œใ‚ใกใ‚“ใ‘ใคใผใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0000456 ; skos:prefLabel "่„ณใ‚ฏใƒฌใ‚ขใƒใƒณๆฌ ไน็—‡ๅ€™็พค"@ja . -:2200843 - :hasNotificationNumber "33" ; - terms:description "ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ็จ€ใซ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ‚ˆใ‚‹็‰นๆœ‰ใฎ้ ญ่“‹้ก”้ขใฎๅค‰ๅฝขใ‚’ๆฅใŸใ—ใ€ไป–ใฎ้ก”้ขใƒปๆŒ‡่ถพใƒปๅ››่‚ขใƒปๅ…จ่บซใฎ็•ฐๅธธใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ‚ˆใถใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ…จไฝ“ใฎ็ด„85%ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ้ƒจไฝใซๅฟœใ˜ใŸไปฃๅ„Ÿๆ€ง้ ญ่“‹้ชจๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅŽŸๅ› ใฏใปใจใ‚“ใฉใฎๅ ดๅˆไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใซใชใ‚Šไธ€้ƒจใฎ็—‡ไพ‹ใง้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใŒ็ณป็ตฑใ ใฃใŸ่งฃๆžใฏไปŠๅพŒใฎ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่ฆ‹่งฃใจ็•ฐใชใ‚Šใ€้ซ˜ๆฌก่„ณๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ“ใจใŒ่ฟ‘ๅนดๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200843" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ๅ˜ไธ€ใ‚ใ‚‹ใ„ใฏ็จ€ใซ่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ‚ˆใ‚‹็‰นๆœ‰ใฎ้ ญ่“‹้ก”้ขใฎๅค‰ๅฝขใ‚’ๆฅใŸใ—ใ€ไป–ใฎ้ก”้ขใƒปๆŒ‡่ถพใƒปๅ››่‚ขใƒปๅ…จ่บซใฎ็•ฐๅธธใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ‚ˆใถใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ…จไฝ“ใฎ็ด„85%ใจๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ้ƒจไฝใซๅฟœใ˜ใŸไปฃๅ„Ÿๆ€ง้ ญ่“‹้ชจๅค‰ๅฝขใ‚’็”Ÿใ˜ใ‚‹ใ€‚ๅŽŸๅ› ใฏใปใจใ‚“ใฉใฎๅ ดๅˆไธๆ˜Žใงใ‚ใ‚‹ใ€‚ๆœ€่ฟ‘ใซใชใ‚Šไธ€้ƒจใฎ็—‡ไพ‹ใง้บไผๅญ็•ฐๅธธใŒๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใŒ็ณป็ตฑใ ใฃใŸ่งฃๆžใฏไปŠๅพŒใฎ่ชฒ้กŒใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่ฆ‹่งฃใจ็•ฐใชใ‚Šใ€้ซ˜ๆฌก่„ณๆฉŸ่ƒฝ้šœๅฎณใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ“ใจใŒ่ฟ‘ๅนดๆ˜Žใ‚‰ใ‹ใจใชใฃใฆใใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200843" ; + dcterms:source ; a owl:Class ; - rdfs:label "Non-syndromic craniosynostosis"@en, "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Non-syndromic craniosynostosis"@en, "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015337 ; skos:prefLabel "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja . -:2200844 - :hasNotificationNumber "31" ; - terms:description "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽApert็—‡ๅ€™็พคใฏๅฐ–้ ญๅˆๆŒ‡็—‡(acrocephalosyndactyly) type๏ผ‘ใซๅˆ†้กžใ•ใ‚Œใ‚‹็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅฝขๆ…‹ใƒป้ก”่ฒŒใƒป่„ณๅฝขๆˆ็•ฐๅธธใฎใฟใชใ‚‰ใšใ€ๅฟƒ่‡“ใƒปๆถˆๅŒ–ๅ™จใƒป้ชจ็›ค่‡“ๅ™จใซใ‚‚็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅคšใใฏๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2 exson7ใฎๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200844" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹๏ผŽApert็—‡ๅ€™็พคใฏๅฐ–้ ญๅˆๆŒ‡็—‡(acrocephalosyndactyly) type๏ผ‘ใซๅˆ†้กžใ•ใ‚Œใ‚‹็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใงใ‚ใ‚‹ใ€‚้ ญ่“‹ๅฝขๆ…‹ใƒป้ก”่ฒŒใƒป่„ณๅฝขๆˆ็•ฐๅธธใฎใฟใชใ‚‰ใšใ€ๅฟƒ่‡“ใƒปๆถˆๅŒ–ๅ™จใƒป้ชจ็›ค่‡“ๅ™จใซใ‚‚็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅคšใใฏๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2 exson7ใฎๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200844" ; + dcterms:source ; a owl:Class ; - rdfs:label "Apert syndrome"@en, "ใ‚ขใƒšใƒผใƒซ ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Apert syndrome"@en, "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Apert็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007041, mondo:MONDO_0019796 ; - skos:prefLabel "ใ‚ขใƒšใƒผใƒซ ็—‡ๅ€™็พค"@ja . - -:2200845 - :hasNotificationNumber "32" ; - terms:description "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚Crouzon็—…ใฏ็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€ๅˆๆŒ‡ใƒป่ถพ็—‡ใฏไผดใ‚ใชใ„๏ผŽ้ ญ่“‹ๅ†…ๅœงไบข้€ฒใƒป้ ญ่“‹ๅค‰ๅฝขใƒป็œผ็ƒ็ชๅ‡บใซๅŠ ใˆไธŠๆฐ—้“็‹ญ็ช„ใƒปไธญ้ก”้ขไฝŽๅฝขๆˆ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็™บ็—‡ๅฝขๆ…‹ๆง˜ๅผใฎๅ€‹ไบบๅทฎใŒๆฅตใ‚ใฆๅคงใใ„ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ“ใจ ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2ๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200845" ; - terms:source ; - a owl:Class ; - rdfs:label "Crouzon disease"@en, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Crouzon็—…"@ja ; - skos:closeMatch mondo:MONDO_0007405 ; - skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…"@ja . + skos:closeMatch obo:MONDO_0007041 ; + skos:prefLabel "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค"@ja . -:2200846 - :hasNotificationNumber "34" ; - terms:description "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200846" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใซใ€้ก”้ขใƒปไธŠ้กŽ้ชจใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใ€ๅ››่‚ขใฎๅ…ˆๅคฉๆ€งๅฝขๆˆไธๅ…จใ‚’ๅˆไฝตใ—ใฆใ„ใ‚‹ใ‚‚ใฎใ‚’็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใจใ„ใ†๏ผŽ้€šๅธธใฏ็‰นๅพด็š„ใช้ก”่ฒŒใ‚’ไผดใ†ใŸใ‚ใ€้ ญ่“‹้ก”้ข็•ฐๅธธใจใ‚ˆใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚Crouzon็—…ใฏ็—‡ๅ€™็พคๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใฎไธ€ใคใงใ‚ใ‚‹ใŒใ€ๅˆๆŒ‡ใƒป่ถพ็—‡ใฏไผดใ‚ใชใ„๏ผŽ้ ญ่“‹ๅ†…ๅœงไบข้€ฒใƒป้ ญ่“‹ๅค‰ๅฝขใƒป็œผ็ƒ็ชๅ‡บใซๅŠ ใˆไธŠๆฐ—้“็‹ญ็ช„ใƒปไธญ้ก”้ขไฝŽๅฝขๆˆ็—‡ใชใฉๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ—ใ€็™บ็—‡ๅฝขๆ…‹ๆง˜ๅผใฎๅ€‹ไบบๅทฎใŒๆฅตใ‚ใฆๅคงใใ„ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใŒๅผง็™บๆ€งใซ็™บ็”Ÿใ™ใ‚‹ใ“ใจ ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้บไผๅญ่งฃๆžใงใฏFGFR2ๅค‰็•ฐใŒ้ซ˜็Ž‡ใซ่ชใ‚ใ‚‰ใ‚Œใ€FGFR้–ข้€ฃ้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ๅ€™็พคใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200845" ; + dcterms:source ; a owl:Class ; - rdfs:label "30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja, "Other craniosynostosis"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "30ใ‹ใ‚‰32ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja . + rdfs:label "Crouzon disease"@en, "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Crouzon็—…"@ja ; + skos:closeMatch obo:MONDO_0007405 ; + skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…"@ja . -:2200847 - :hasNotificationNumber "34" ; - terms:identifier "2200847" ; - terms:source ; - a owl:Class ; - rdfs:label "Carpenter syndrome"@en, "Carpenter็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "34" ; + dcterms:description "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200846" ; + dcterms:source ; + a owl:Class ; + rdfs:label "35ใ‹ใ‚‰37ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚…ใ†ใฉใฎใšใŒใ„ใ“ใคใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†"@ja-Hira, "35ใ‹ใ‚‰37ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja, "Other craniosynostosis"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "35ใ‹ใ‚‰37ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€้‡ๅบฆใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja . + + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:2200847" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Carpenter syndrome"@en, "Carpenter็—‡ๅ€™็พค"@ja, "ใ‹ใƒผใบใ‚“ใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "ใ‚ซใƒผใƒšใƒณใ‚ฟใƒผ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008710, mondo:MONDO_0019012 ; + skos:closeMatch obo:MONDO_0019012 ; skos:prefLabel "Carpenter็—‡ๅ€™็พค"@ja . -:2200848 - :hasNotificationNumber "34" ; - terms:identifier "2200848" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:2200848" ; + dcterms:source ; a owl:Class ; - rdfs:label "Saethre-Chotzen syndrome"@en, "Seather-Chotzen็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Saethre-Chotzen syndrome"@en, "Seather-Chotzen็—‡ๅ€™็พค"@ja, "ใ›ใƒผใจใ‚Œใฒใ‚‡ใคใ‡ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "ใ‚ผใƒผใƒ„ใƒฌโ€ใ‚ณใƒƒใƒ„ใ‚งใƒณ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007042 ; + skos:closeMatch obo:MONDO_0007042 ; skos:prefLabel "Seather-Chotzen็—‡ๅ€™็พค"@ja . -:2200849 - :hasNotificationNumber "34" ; - terms:identifier "2200849" ; - terms:source ; - a owl:Class ; - rdfs:label "ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf . - -:2200850 - :hasNotificationNumber "79" ; - terms:description "่ค‡ๆ•ฐใฎ้ ญ่“‹้ชจๆ—ฉๆœŸ็™’ๅˆใซไผดใ†่ค‡้›‘ใช้ ญ่“‹๏ผˆ้ก”้ข๏ผ‰ๅค‰ๅฝขใ‚’ไผดใ†้ ญ่“‹้ชจๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใฎไธญใงใ€ใ‚ฏใƒซใƒผใ‚พใƒณ็—…ใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคไปฅๅค–ใฎใ‚‚ใฎใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚็—‡ๅ€™ๆ€งใจใ—ใฆใฏPfeiffer็—‡ๅ€™็พคใ€Carpenter็—‡ๅ€™็พคใ€Antley-Bixler็—‡ๅ€™็พคใ€Seather-Chotzen็—‡ๅ€™็พคใชใฉใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ใ“ใฎไป–ใซใ‚‚็จ€ๅฐ‘็—‡ๅ€™็พคใ€ใ‚ใ‚‹ใ„ใฏๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡ใ‚’ๅฏพ่ฑกใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200850" ; - terms:source ; - a owl:Class ; - rdfs:label "moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009649, mondo:MONDO_0016820, mondo:MONDO_0018792 ; + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:2200849" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Unclassifiable multiple suture craniosynostosis"@en, "ใถใ‚“ใ‚‹ใ„ใตใฎใ†ใฎใŸใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅˆ†้กžไธ่ƒฝใฎๅคš็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡"@ja . + + + nando:hasNotificationNumber "98" ; + dcterms:description "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…(ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡)ใฏๆ—ฅๆœฌไบบใซๅคš็™บใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ้€ฒ่กŒๆ€ง่„ณ่ก€็ฎก้–‰ๅกž็—‡ใงใ‚ใ‚Šใ€ไธกๅดใฎๅ†…้ šๅ‹•่„ˆ็ต‚ ๆœซ้ƒจใซ็‹ญ็ช„ใชใ„ใ—ใฏ้–‰ๅกžใจใใฎๅ‘จๅ›ฒใซ็•ฐๅธธ่ก€็ฎก็ถฒใ‚’่ชใ‚ใ‚‹ใ€‚็™บ็—‡ๅนด้ฝขใฏไบŒๅณฐๆ€งๅˆ†ๅธƒใ‚’็คบใ—ใ€5ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹้ซ˜ใ„ๅฑฑใจ30๏ฝž40ๆญณใ‚’ไธญๅฟƒใจใ™ใ‚‹ไฝŽใ„ๅฑฑใ‚’่ชใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸใซใฏ่„ณ่ก€็ฎก้–‰ๅกž๏ผˆ่„ณ่™š่ก€๏ผ‰ใฎ็—‡็ŠถใŒๅคšใใ€ๆˆไบบๆœŸใซใฏ่„ณๅ‡บ่ก€ใซใ‚ˆใ‚‹็—‡็ŠถใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200850" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Moyamoya disease"@en, "ใ‚‚ใ‚„ใ‚‚ใ‚„ใณใ‚‡ใ†"@ja-Hira, "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ใ‚ฆใ‚ฃใƒชใ‚นๅ‹•่„ˆ่ผช้–‰ๅกž็—‡"@ja ; + skos:closeMatch obo:MONDO_0016820 ; skos:prefLabel "ใ‚‚ใ‚„ใ‚‚ใ‚„็—…"@ja . -:2200851 - :hasNotificationNumber "73" ; - terms:description "ๅคงๅฐๆง˜ใ€…ใช็•ฐๅธธๅ‹•้™่„ˆ้–“ใซ็›ดๆŽฅๅปๅˆใŒใ‚ใ‚Šใ€็•ฐๅธธใช่ก€็ฎกๅกŠ๏ผˆใƒŠใ‚คใƒ€ใ‚น๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๆฏ›็ดฐ่ก€็ฎกใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€ๅ‹•่„ˆ่ก€ใฏ็›ดๆŽฅ้™่„ˆ็ณปใซ็งป่กŒใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200851" ; - terms:source ; + + nando:hasNotificationNumber "90" ; + dcterms:description "ๅคงๅฐๆง˜ใ€…ใช็•ฐๅธธๅ‹•้™่„ˆ้–“ใซ็›ดๆŽฅๅปๅˆใŒใ‚ใ‚Šใ€็•ฐๅธธใช่ก€็ฎกๅกŠ๏ผˆใƒŠใ‚คใƒ€ใ‚น๏ผ‰ใŒใ‚ใ‚‹ใ€‚ๆฏ›็ดฐ่ก€็ฎกใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€ๅ‹•่„ˆ่ก€ใฏ็›ดๆŽฅ้™่„ˆ็ณปใซ็งป่กŒใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200851" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cerebral arteriovenous malformation"@en, "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Cerebral arteriovenous malformation"@en, "ใฎใ†ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„"@ja-Hira, "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Cerebral AVM"@en ; - skos:closeMatch mondo:MONDO_0007154 ; + skos:closeMatch obo:MONDO_0007154 ; skos:prefLabel "่„ณๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja . -:2200852 - :hasNotificationNumber "9" ; - terms:description "็•ฐๅธธใซๆ‹กๅผตใ—ใŸๆดžๆง˜่ก€็ฎกใŒ้™ๅฑ€็š„ใซๅฏ†ใซ้›†ๅˆใ—ใ€ใใฎใŸใ‚ๅ„่ก€็ฎกใฎ้–“ใซๆญฃๅธธ่„ณ็ต„็น”ใŒใฟใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€ง่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200852" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "็•ฐๅธธใซๆ‹กๅผตใ—ใŸๆดžๆง˜่ก€็ฎกใŒ้™ๅฑ€็š„ใซๅฏ†ใซ้›†ๅˆใ—ใ€ใใฎใŸใ‚ๅ„่ก€็ฎกใฎ้–“ใซๆญฃๅธธ่„ณ็ต„็น”ใŒใฟใ‚‰ใ‚Œใชใ„ๅ…ˆๅคฉๆ€ง่ก€็ฎกๅฅ‡ๅฝขใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200852" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cavernous angioma of the brain and spinal cord"@en, "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Cavernous angioma of the brain and spinal cord"@en, "ใ‹ใ„ใ‚ใ‚“ใ˜ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ—ใ‚…๏ผˆใฎใ†ใ›ใใšใ„๏ผ‰"@ja-Hira, "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002327 ; skos:prefLabel "ๆตท็ถฟ็Šถ่ก€็ฎก่…ซ๏ผˆ่„ณ่„Š้ซ„๏ผ‰"@ja . -:2200853 - :hasNotificationNumber "40" ; - terms:description "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡(SMA)ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹(OMIM#253300)ใ€IIๅž‹(OMIM#253550)ใ€IIIๅž‹(OMIM#253400)ใ€IVๅž‹(OMIM#27115)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95%ใซSMN้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ1๏ผ2ๅ‰ฒใซใŠใ„ใฆSMN๏ผˆsurvival motor neuron๏ผ‰้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200853" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡(SMA)ใฏใ€่„Š้ซ„ใฎๅ‰่ง’็ดฐ่ƒžใฎๅค‰ๆ€งใซใ‚ˆใ‚‹็ญ‹่Ž็ธฎใจ้€ฒ่กŒๆ€ง็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’็‰นๅพดใจใ™ใ‚‹ไธ‹ไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณ็—…ใงใ‚ใ‚‹ใ€‚ไธŠไฝ้‹ๅ‹•ใƒ‹ใƒฅใƒผใƒญใƒณๅพดๅ€™ใฏไผดใ‚ใชใ„ใ€‚ไฝ“ๅนนใ€ๅ››่‚ขใฎ่ฟ‘ไฝ้ƒจๅ„ชไฝใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€็ญ‹่Ž็ธฎใ‚’็คบใ™ใ€‚็™บ็—‡ๅนด้ฝขใ€่‡จๅบŠ็ตŒ้ŽใซๅŸบใฅใใ€Iๅž‹(OMIM#253300)ใ€IIๅž‹(OMIM#253550)ใ€IIIๅž‹(OMIM#253400)ใ€IVๅž‹(OMIM#27115)ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚Iใ€IIๅž‹ใฎ95%ใซSMN้บไผๅญๆฌ ๅคฑใŒ่ชใ‚ใ‚‰ใ‚Œใ€IIIๅž‹ใฎ็ด„ๅŠๆ•ฐใ€IVๅž‹ใฎ1๏ผ2ๅ‰ฒใซใŠใ„ใฆSMN๏ผˆsurvival motor neuron๏ผ‰้บไผๅญๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200853" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinal muscular atrophy"@en, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001516 ; + rdfs:label "Spinal muscular atrophy"@en, "ใ›ใใšใ„ใ›ใ„ใใ‚“ใ„ใ—ใ‚…ใใ—ใ‚‡ใ†"@ja-Hira, "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001516 ; skos:prefLabel "่„Š้ซ„ๆ€ง็ญ‹่Ž็ธฎ็—‡"@ja . -:2200854 - :hasNotificationNumber "47" ; - terms:description "ๅ…ˆๅคฉๆ€ง็„ก็—›็—‡ใฏ้บไผๆ€งๆ„Ÿ่ฆšใƒป่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ(HSAN)ใซๅฑžใ™ใ‚‹็–พๆ‚ฃใงใ€ใ“ใฎใ†ใก4ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡๏ผšCongenital Insensitivity to Pain with Anhidrosis๏ผšCIPA๏ผ‰ใจ5ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็—‡๏ผšCongenital Insensitivity to Pain๏ผšCIP๏ผ‰ใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚CIPAใงใฏๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’ๅˆไฝตใ—ใ€็จฎใ€…ใฎ็จ‹ๅบฆใฎ็Ÿฅ่ƒฝไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200854" ; - terms:source ; - a owl:Class ; - rdfs:label "congenital insensitIVity to pain with anhidrosis"@en, "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009746 ; + + nando:hasNotificationNumber "46" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง็„ก็—›็—‡ใฏ้บไผๆ€งๆ„Ÿ่ฆšใƒป่‡ชๅพ‹็ฅž็ตŒใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ(HSAN)ใซๅฑžใ™ใ‚‹็–พๆ‚ฃใงใ€ใ“ใฎใ†ใก4ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡๏ผšCongenital Insensitivity to Pain with Anhidrosis๏ผšCIPA๏ผ‰ใจ5ๅž‹๏ผˆๅ…ˆๅคฉๆ€ง็„ก็—›็—‡๏ผšCongenital Insensitivity to Pain๏ผšCIP๏ผ‰ใŒ็›ธๅฝ“ใ™ใ‚‹ใ€‚ๅ…จ่บซใฎๆธฉ็—›่ฆšๆถˆๅคฑใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚CIPAใงใฏๅ…จ่บซใฎ็™บๆฑ—ไฝŽไธ‹ใ‚’ๅˆไฝตใ—ใ€็จฎใ€…ใฎ็จ‹ๅบฆใฎ็Ÿฅ่ƒฝไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200854" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital insensitivity to pain with anhidrosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‚€ใคใ†ใ‚€ใ‹ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CIPA"@en ; + skos:closeMatch obo:MONDO_0009746 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง็„ก็—›็„กๆฑ—็—‡"@ja . -:2200855 - :hasNotificationNumber "46" ; - terms:description "ๆœซๆขข็ฅž็ตŒใŒ้บไผ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจใ‚ˆใถใ€‚ๆœซๆขข็ฅž็ตŒใฏ้‹ๅ‹•็ฅž็ตŒใ€ๆ„Ÿ่ฆš็ฅž็ตŒใ€่‡ชๅพ‹็ฅž็ตŒใซๅคงๅˆฅใ•ใ‚Œใ€ใพใŸๆง‹้€ ไธŠ่ปธ็ดขใจ้ซ„้ž˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ“ใ‚Œใ‚‰ๆœซๆขข็ฅž็ตŒๆง‹ๆˆๆˆๅˆ†ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็”Ÿใ˜ใฆใŠใ‚Šใ€้›ปๆฐ—็”Ÿ็†ๆคœๆŸปใŠใ‚ˆใณ้บไผๅญฆ็š„ๆคœๆŸปใซใ‚ˆใฃใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚"@ja ; - terms:identifier "2200855" ; - terms:source ; + + nando:hasNotificationNumber "45" ; + dcterms:description "ๆœซๆขข็ฅž็ตŒใŒ้บไผ็š„ใซ้šœๅฎณใ•ใ‚Œใ‚‹็–พๆ‚ฃใ‚’็ท็งฐใ—ใฆ้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใจใ‚ˆใถใ€‚ๆœซๆขข็ฅž็ตŒใฏ้‹ๅ‹•็ฅž็ตŒใ€ๆ„Ÿ่ฆš็ฅž็ตŒใ€่‡ชๅพ‹็ฅž็ตŒใซๅคงๅˆฅใ•ใ‚Œใ€ใพใŸๆง‹้€ ไธŠ่ปธ็ดขใจ้ซ„้ž˜ใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใฆใ„ใ‚‹ใ€‚้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผใฏใ“ใ‚Œใ‚‰ๆœซๆขข็ฅž็ตŒๆง‹ๆˆๆˆๅˆ†ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็”Ÿใ˜ใฆใŠใ‚Šใ€้›ปๆฐ—็”Ÿ็†ๆคœๆŸปใŠใ‚ˆใณ้บไผๅญฆ็š„ๆคœๆŸปใซใ‚ˆใฃใฆ่จบๆ–ญใ™ใ‚‹ใ“ใจใŒใงใใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200855" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary Motor and Sensory Neuropathy"@en, "้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Hereditary Motor and Sensory Neuropathy"@en, "ใ„ใงใ‚“ใ›ใ„ใ†ใ‚“ใฉใ†ใ‹ใ‚“ใ‹ใใซใ‚…ใƒผใ‚ใฑใกใƒผ"@ja-Hira, "้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "Charcot-Marie-Tooth disease"@en ; - skos:closeMatch mondo:MONDO_0002316, mondo:MONDO_0015358, mondo:MONDO_0015626, mondo:MONDO_0018995 ; + skos:closeMatch obo:MONDO_0015358, obo:MONDO_0015626 ; skos:prefLabel "้บไผๆ€ง้‹ๅ‹•ๆ„Ÿ่ฆšใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja . -:2200856 - :hasNotificationNumber "14" ; - terms:description "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅฐๅ…ๆœŸ็™บ็—‡ใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200856" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒณ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅฐๅ…ๆœŸ็™บ็—‡ใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200856" ; + dcterms:source ; a owl:Class ; - rdfs:label "Duchenne muscular dystrophy"@en, "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Duchenne muscular dystrophy"@en, "ใงใ‚…ใ—ใ‡ใ‚“ใฌใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Duchenneๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - skos:closeMatch mondo:MONDO_0010679 ; + skos:closeMatch obo:MONDO_0010679 ; skos:prefLabel "ใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200857 - :hasNotificationNumber "11" ; - terms:description "ๅนผๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๆฏ”่ผƒ็š„็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹ใฎใปใ‹ใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‹ใ‚‰่ชใ‚ใ‚‹้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒไผๅฐŽ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200857" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ๅนผๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ€ๆฏ”่ผƒ็š„็ทฉๅพใซ้€ฒ่กŒใ™ใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹ใฎใปใ‹ใ€ๆฏ”่ผƒ็š„ๆ—ฉๆœŸใ‹ใ‚‰่ชใ‚ใ‚‹้–ข็ฏ€ๆ‹˜็ธฎใ€ๅฟƒไผๅฐŽ้šœๅฎณใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200857" ; + dcterms:source ; a owl:Class ; - rdfs:label "Emery-Dreifuss muscular dystrophy"@en, "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Emery-Dreifuss muscular dystrophy"@en, "ใˆใ‚ใ‚Šใƒผใƒปใฉใ‚Œใ„ใตใ™ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Emery-Dreifussๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - skos:closeMatch mondo:MONDO_0016830 ; + skos:closeMatch obo:MONDO_0016830 ; skos:prefLabel "ใ‚จใƒกใƒชใƒผใƒปใƒ‰ใƒฌใ‚คใƒ•ใ‚นๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200858 - :hasNotificationNumber "13" ; - terms:description "Duchenneๅž‹ใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹ใ€ๅ…ˆๅคฉๅž‹ใซใ‚ใ‚‹ใ‚ˆใ†ใช่‡จๅบŠ่จบๆ–ญ็š„็‰นๅพดใ‚’ๆฌ ใ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซใคใ‘ใ‚‰ใ‚ŒใŸ่‡จๅบŠ่จบๆ–ญๅ"@ja ; - terms:identifier "2200858" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "Duchenneๅž‹ใ€้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹ใ€ๅ…ˆๅคฉๅž‹ใซใ‚ใ‚‹ใ‚ˆใ†ใช่‡จๅบŠ่จบๆ–ญ็š„็‰นๅพดใ‚’ๆฌ ใ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใซใคใ‘ใ‚‰ใ‚ŒใŸ่‡จๅบŠ่จบๆ–ญๅ"@ja ; + dcterms:identifier "NANDO:2200858" ; + dcterms:source ; a owl:Class ; - rdfs:label "limb-girdle muscular dystrophy"@en, "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016971 ; + rdfs:label "Limb-girdle muscular dystrophy"@en, "ใ—ใŸใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016971 ; skos:prefLabel "่‚ขๅธฏๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200859 - :hasNotificationNumber "12" ; - terms:description "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’ใจใ‚Šใ€้ก”้ข็ญ‹ใ€่‚ฉ็”ฒใ€ไธŠ่…•่ฟ‘ไฝ้ƒจใฎ็ญ‹ใŒไธปใซ้šœๅฎณใ‚’ใ†ใ‘ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200859" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’ใจใ‚Šใ€้ก”้ข็ญ‹ใ€่‚ฉ็”ฒใ€ไธŠ่…•่ฟ‘ไฝ้ƒจใฎ็ญ‹ใŒไธปใซ้šœๅฎณใ‚’ใ†ใ‘ใ€็ทฉๅพ้€ฒ่กŒๆ€งใ‚’็คบใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200859" ; + dcterms:source ; a owl:Class ; - rdfs:label "facio-scapulohumeral muscular dystrophy"@en, "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Facioscapulohumeral muscular dystrophy"@en, "ใŒใ‚“ใ‚ใ‚“ใ‘ใ‚“ใ“ใ†ใ˜ใ‚‡ใ†ใ‚ใ‚“ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "FSMD"@en ; + skos:closeMatch obo:MONDO_0001347 ; skos:prefLabel "้ก”้ข่‚ฉ็”ฒไธŠ่…•ๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200860 - :hasNotificationNumber "15" ; - terms:description "1960ๅนดใซ็ฆๅฑฑใ‚‰ใซๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงๆ—ฅๆœฌไบบใซๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ๏ผŒ้‡ๅบฆใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผŒ็ฅž็ตŒ็ดฐ่ƒž้Š่ตฐ้šœๅฎณใซใ‚ˆใ‚‹่„ณๅฅ‡ๅฝขใจ้ซ˜้ ปๅบฆใฎ็œผๅˆไฝต็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹๏ผŽ1990ๅนดไปฃใซ9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠ้บไผๅญๅบง(9q31-33)ใฎๅŒๅฎšใซๅผ•ใ็ถšใ๏ผŒๅŽŸๅ› ้บไผๅญfukutin๏ผˆFKTN๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŽFKTN้บไผๅญ็”ฃ็‰ฉใฏฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒณ๏ผˆฮฑ-dystroglycan: ฮฑ-DG๏ผ‰ใฎ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใจ่€ƒใˆใ‚‰ใ‚Œ๏ผŒฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไธ€็พคใซๅฑžใ™ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200860" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "1960ๅนดใซ็ฆๅฑฑใ‚‰ใซๅ ฑๅ‘Šใ•ใ‚ŒใŸๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงๆ—ฅๆœฌไบบใซๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ๏ผŒ้‡ๅบฆใฎ็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผŒ็ฅž็ตŒ็ดฐ่ƒž้Š่ตฐ้šœๅฎณใซใ‚ˆใ‚‹่„ณๅฅ‡ๅฝขใจ้ซ˜้ ปๅบฆใฎ็œผๅˆไฝต็—‡ใŒ็‰นๅพดใงใ‚ใ‚‹๏ผŽ1990ๅนดไปฃใซ9็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠ้บไผๅญๅบง(9q31-33)ใฎๅŒๅฎšใซๅผ•ใ็ถšใ๏ผŒๅŽŸๅ› ้บไผๅญfukutin๏ผˆFKTN๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚ŒใŸ๏ผŽFKTN้บไผๅญ็”ฃ็‰ฉใฏฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒณ๏ผˆฮฑ-dystroglycan: ฮฑ-DG๏ผ‰ใฎ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใจ่€ƒใˆใ‚‰ใ‚Œ๏ผŒฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎไธ€็พคใซๅฑžใ™ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200860" ; + dcterms:source ; a owl:Class ; - rdfs:label "Fukuyama congenital muscular dystrophy"@en, "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Fukuyama type congenital muscular dystrophy"@en, "ใตใใ‚„ใพใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "FCMD"@en ; - skos:closeMatch mondo:MONDO_0009678, mondo:MONDO_0023204 ; + skos:closeMatch obo:MONDO_0009678 ; skos:prefLabel "็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200861 - :hasNotificationNumber "16" ; - terms:description "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1994ๅนดใซTomรฉใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒๆฌง็ฑณใซ้ ปๅบฆใŒ้ซ˜ใๆ—ฅๆœฌใงใฏ็จ€ใงใ‚ใ‚‹๏ผŽใƒฉใƒŸใƒ‹ใƒณฮฑ2้Ž–ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹LNMA2้บไผๅญใซใ‚ˆใ‚Š๏ผŒใƒฉใƒŸใƒ‹ใƒณ211๏ผˆใƒกใƒญใ‚ทใƒณ๏ผ‰ใฎๅฎŒๅ…จใพใŸใฏ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŽ้ž็ฆๅฑฑๅž‹ใซๅˆ†้กžใ•ใ‚Œ๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200861" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1994ๅนดใซTomรฉใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚Œ๏ผŒๆฌง็ฑณใซ้ ปๅบฆใŒ้ซ˜ใๆ—ฅๆœฌใงใฏ็จ€ใงใ‚ใ‚‹๏ผŽใƒฉใƒŸใƒ‹ใƒณฮฑ2้Ž–ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹LNMA2้บไผๅญใซใ‚ˆใ‚Š๏ผŒใƒฉใƒŸใƒ‹ใƒณ211๏ผˆใƒกใƒญใ‚ทใƒณ๏ผ‰ใฎๅฎŒๅ…จใพใŸใฏ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใ‚Š็”Ÿใ˜ใ‚‹๏ผŽ้ž็ฆๅฑฑๅž‹ใซๅˆ†้กžใ•ใ‚Œ๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚’ไผดใ‚ใชใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200861" ; + dcterms:source ; a owl:Class ; - rdfs:label "merosin-deficient congenital muscular dystrophy"@en, "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0011925 ; + rdfs:label "Merosin-deficient congenital muscular dystrophy"@en, "ใ‚ใ‚ใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011925 ; skos:prefLabel "ใƒกใƒญใ‚ทใƒณๆฌ ๆๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200862 - :hasNotificationNumber "10" ; - terms:description "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1930ๅนดใซUllrichใŒscleroatonic (sclero: ่ฟ‘ไฝ้–ข็ฏ€ๆ‹˜็ธฎใ€atonic:ใ€€้ ไฝ้–ข็ฏ€้Žไผธๅฑ•) congenital muscular dystrophyใจใ—ใฆๅ ฑๅ‘Šใ—๏ผŒๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎๆฌกใซ้ ปๅบฆใฎ้ซ˜ใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽVIๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ‚ˆใ‚Š๏ผŒ้‡็—‡ๅž‹ใฎUllrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจ่ปฝ็—‡ๅž‹ใฎBethlemๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็”Ÿใ˜ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200862" ; - terms:source ; - a owl:Class ; - rdfs:label "Ullrich congenital muscular dystrophy"@en, "ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - skos:closeMatch mondo:MONDO_0000355, mondo:MONDO_0009681 ; + + nando:hasNotificationNumber "10" ; + dcterms:description "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฏ1930ๅนดใซUllrichใŒscleroatonic (sclero: ่ฟ‘ไฝ้–ข็ฏ€ๆ‹˜็ธฎใ€atonic:ใ€€้ ไฝ้–ข็ฏ€้Žไผธๅฑ•) congenital muscular dystrophyใจใ—ใฆๅ ฑๅ‘Šใ—๏ผŒๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎๆฌกใซ้ ปๅบฆใฎ้ซ˜ใ„ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใงใ‚ใ‚‹๏ผŽVIๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใ‚ˆใ‚Š๏ผŒ้‡็—‡ๅž‹ใฎUllrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใจ่ปฝ็—‡ๅž‹ใฎBethlemๅž‹ใƒŸใ‚ชใƒ‘ใƒใƒผใ‚’็”Ÿใ˜ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200862" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ullrich congenital muscular dystrophy"@en, "ใ†ใ‚‹ใ‚ŠใฒใŒใŸใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Ullrich disease"@en, "Ullrich's disease"@en, "Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja, "ใ‚ฆใƒซใƒชใƒƒใƒ’็—…"@ja ; + skos:closeMatch obo:MONDO_0000355 ; skos:prefLabel "ใ‚ฆใƒซใƒชใƒ’ๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200863 - :hasNotificationNumber "17" ; - terms:identifier "2200863" ; - terms:source ; - a owl:Class ; - rdfs:label "38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja, "Other muscular dystrophy"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "38ใ‹ใ‚‰44ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . - -:2200864 - :hasNotificationNumber "17" ; - terms:description "ไนณๅนผๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ็ท็งฐใงใ‚ใ‚‹๏ผŽๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹๏ผˆFukuyama type CMD๏ผšFCMD๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„๏ผŽใใฎไป–Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆUllrich congenital muscular dystrophy: UCMD๏ผ‰๏ผŒLMNA้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ใ‚‚ใฎ๏ผˆlamin related CMD๏ผšL-CMD๏ผ‰ใ‚„ใƒกใƒญใ‚ทใƒณๆฌ ๆ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใŒใ€็—…ๅ› ใŒๅŒๅฎšใงใใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹๏ผŽ็ฆๅฑฑๅž‹ใฎ็—…ๅ› ใงใ‚ใ‚‹fukutin้บไผๅญใชใฉใฏ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’ฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจ็ท็งฐใ™ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200864" ; - terms:source ; - a owl:Class ; - rdfs:label "Myotonic dystrophy"@en, "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0016107 ; - skos:prefLabel "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . - -:2200865 - :hasNotificationNumber "17" ; - terms:description "่‡จๅบŠ็—‡็Šถใฏใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆDMD๏ผ‰ใซ้กžไผผใ™ใ‚‹ใŒใ€็™บ็—‡ๆ™‚ๆœŸใ‚„้€ฒ่กŒใŒใ‚ˆใ‚Š้…ใใ€ๆญฉ่กŒไธ่ƒฝๆ™‚ๆœŸใฏๅฐ‘ใชใใจใ‚‚15ๆญณไปฅ้™ใงใ‚ใ‚‹๏ผŽDMDใจ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ‚ˆใ†ใชๆ—ฉๆœŸ็™บ็—‡ไพ‹ใ‹ใ‚‰ใ€ๆˆไบบๅพŒๆœŸ็™บ็—‡ใพใง้‡็—‡ๅบฆใซๅน…ใŒใ‚ใ‚‹๏ผŽ็™บ็—‡ใ™ใ‚‹ใจ็ทฉๅพใซ้‹ๅ‹•ๆฉŸ่ƒฝไฝŽไธ‹ใ‚’็คบใ™ใ“ใจใ‚‚ๅคšใ„๏ผŽๅฐๅ…ๆœŸใซใŸใพใŸใพ่กŒใฃใŸๆคœๆŸปใซใ‚ˆใฃใฆๆœช็™บ็—‡ใฎ็Šถๆ…‹ใง้ซ˜CK่ก€็—‡ใ‚’่ชใ‚ใŸใ“ใจใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใซ่‡ณใ‚‹ไพ‹ใ‚‚ๅคšใ„๏ผŽ"@ja ; - terms:identifier "2200865" ; - terms:source ; - a owl:Class ; - rdfs:label "Becker muscular dystrophy"@en, "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:2200863" ; + dcterms:source ; + a owl:Class ; + rdfs:label "45ใ‹ใ‚‰51ใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "45ใ‹ใ‚‰51ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja, "Other muscular dystrophy"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "45ใ‹ใ‚‰51ใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "17" ; + dcterms:description "ไนณๅนผๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใฎ็ท็งฐใงใ‚ใ‚‹๏ผŽๆ—ฅๆœฌใงใฏ็ฆๅฑฑๅž‹๏ผˆFukuyama type CMD๏ผšFCMD๏ผ‰ใŒๆœ€ใ‚‚ๅคšใ„๏ผŽใใฎไป–Ullrichๅž‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆUllrich congenital muscular dystrophy: UCMD๏ผ‰๏ผŒLMNA้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ใ‚‚ใฎ๏ผˆlamin related CMD๏ผšL-CMD๏ผ‰ใ‚„ใƒกใƒญใ‚ทใƒณๆฌ ๆ็—‡ใชใฉใŒๅญ˜ๅœจใ™ใ‚‹ใŒใ€็—…ๅ› ใŒๅŒๅฎšใงใใชใ„ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹๏ผŽ็ฆๅฑฑๅž‹ใฎ็—…ๅ› ใงใ‚ใ‚‹fukutin้บไผๅญใชใฉใฏ็ณ–้Ž–ไฟฎ้ฃพใซ้–ขไธŽใ™ใ‚‹้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ—ใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใฎ้บไผๅญๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜ใ‚‹ๅ…ˆๅคฉๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚’ฮฑ-ใ‚ธใ‚นใƒˆใƒญใ‚ฐใƒชใ‚ซใƒŽใƒ‘ใƒใƒผ๏ผˆฮฑ-dystroglycanopathy๏ผ‰ใจ็ท็งฐใ™ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200864" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Myotonic dystrophy"@en, "ใใ‚“ใใ‚‡ใ†ใกใ‚‡ใใ›ใ„ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "็ญ‹็กฌ็›ดๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0016107 ; + skos:prefLabel "็ญ‹ๅผท็›ดๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "17" ; + dcterms:description "่‡จๅบŠ็—‡็Šถใฏใƒ‡ใƒฅใ‚ทใ‚งใƒณใƒŒๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆDMD๏ผ‰ใซ้กžไผผใ™ใ‚‹ใŒใ€็™บ็—‡ๆ™‚ๆœŸใ‚„้€ฒ่กŒใŒใ‚ˆใ‚Š้…ใใ€ๆญฉ่กŒไธ่ƒฝๆ™‚ๆœŸใฏๅฐ‘ใชใใจใ‚‚15ๆญณไปฅ้™ใงใ‚ใ‚‹๏ผŽDMDใจ้‘‘ๅˆฅใŒๅ›ฐ้›ฃใงใ‚ใ‚‹ใ‚ˆใ†ใชๆ—ฉๆœŸ็™บ็—‡ไพ‹ใ‹ใ‚‰ใ€ๆˆไบบๅพŒๆœŸ็™บ็—‡ใพใง้‡็—‡ๅบฆใซๅน…ใŒใ‚ใ‚‹๏ผŽ็™บ็—‡ใ™ใ‚‹ใจ็ทฉๅพใซ้‹ๅ‹•ๆฉŸ่ƒฝไฝŽไธ‹ใ‚’็คบใ™ใ“ใจใ‚‚ๅคšใ„๏ผŽๅฐๅ…ๆœŸใซใŸใพใŸใพ่กŒใฃใŸๆคœๆŸปใซใ‚ˆใฃใฆๆœช็™บ็—‡ใฎ็Šถๆ…‹ใง้ซ˜CK่ก€็—‡ใ‚’่ชใ‚ใŸใ“ใจใ‚’ๅฅ‘ๆฉŸใซ่จบๆ–ญใซ่‡ณใ‚‹ไพ‹ใ‚‚ๅคšใ„๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200865" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Becker muscular dystrophy"@en, "ในใฃใ‹ใƒผใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "BMD"@en ; - skos:closeMatch mondo:MONDO_0007931, mondo:MONDO_0010311 ; + skos:closeMatch obo:MONDO_0010311 ; skos:prefLabel "ใƒ™ใƒƒใ‚ซใƒผๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200866 - :hasNotificationNumber "17" ; - terms:description "็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆˆไบบๆœŸใพใงๅน…ๅบƒใ„๏ผŽ้ชจๆ ผ็ญ‹็—‡็Šถไปฅๅค–ใซๅคš่‡“ๅ™จใฎ็—‡็Šถใ‚’ๅˆไฝตใ—ใ†ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ1ๅž‹๏ผˆDM1๏ผ‰ใจ2ๅž‹๏ผˆDM2๏ผ‰ใŒๅญ˜ๅœจใ™ใ‚‹ใŒๆ—ฅๆœฌใงใฏใปใจใ‚“ใฉใŒDM1ใงใ‚ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200866" ; - terms:source ; - a owl:Class ; - rdfs:label "LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja, "lamin related CMD"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "L-CMD"@en ; - skos:closeMatch mondo:MONDO_0013178 ; + + nando:hasNotificationNumber "17" ; + dcterms:description "็ญ‹ๅผท็›ด๏ผˆใƒŸใ‚ชใƒˆใƒ‹ใƒผ๏ผ‰ใจ็ญ‹ๅŠ›ไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็™บ็—‡ๆ™‚ๆœŸใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆˆไบบๆœŸใพใงๅน…ๅบƒใ„๏ผŽ้ชจๆ ผ็ญ‹็—‡็Šถไปฅๅค–ใซๅคš่‡“ๅ™จใฎ็—‡็Šถใ‚’ๅˆไฝตใ—ใ†ใ‚‹ๅ…จ่บซๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ1ๅž‹๏ผˆDM1๏ผ‰ใจ2ๅž‹๏ผˆDM2๏ผ‰ใŒๅญ˜ๅœจใ™ใ‚‹ใŒๆ—ฅๆœฌใงใฏใปใจใ‚“ใฉใŒDM1ใงใ‚ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200866" ; + dcterms:source ; + a owl:Class ; + rdfs:label "LMNA-related congenital muscular dystrophy"@en, "LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja, "ใˆใ‚‹ใˆใ‚€ใˆใฌใˆใƒผใ„ใงใ‚“ใ—ใธใ‚“ใ„ใŒใŸใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "L-CMD"@en, "Lamin related CMD"@en ; + skos:closeMatch obo:MONDO_0013178 ; skos:prefLabel "LMNA้บไผๅญๅค‰็•ฐๅž‹็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200867 - :hasNotificationNumber "52" ; - terms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200867" ; - terms:source ; - a owl:Class ; - rdfs:label "myotubular myopathy"@en, "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Centronuclear myopathy"@en ; - skos:closeMatch mondo:MONDO_0002921, mondo:MONDO_0018947 ; + + nando:hasNotificationNumber "51" ; + dcterms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200867" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Myotubular myopathy"@en, "ใฟใŠใกใ‚…ใถใ‚‰ใƒผใฟใŠใฑใกใƒผ"@ja-Hira, "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "X-linked centronuclear myopathy"@en ; + skos:closeMatch obo:MONDO_0002921, obo:MONDO_0018947 ; skos:prefLabel "ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:2200868 - :hasNotificationNumber "48" ; - terms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200868" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital fiber-type disproportion myopathy"@en, "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009711 ; + + nando:hasNotificationNumber "47" ; + dcterms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200868" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital fiber-type disproportion myopathy"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚“ใ›ใ‚“ใ„ใตใใ‚“ใจใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡"@ja ; + skos:closeMatch obo:MONDO_0009711 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญไธๅ‡็ญ‰็—‡"@ja . -:2200869 - :hasNotificationNumber "50" ; - terms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200869" ; - terms:source ; + + nando:hasNotificationNumber "49" ; + dcterms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200869" ; + dcterms:source ; a owl:Class ; - rdfs:label "nemaline myopathy"@en, "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018958 ; + rdfs:label "Nemaline myopathy"@en, "ใญใพใ‚Šใ‚“ใฟใŠใฑใกใƒผ"@ja-Hira, "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018958 ; skos:prefLabel "ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:2200870 - :hasNotificationNumber "49" ; - terms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200870" ; - terms:source ; + + nando:hasNotificationNumber "48" ; + dcterms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200870" ; + dcterms:source ; a owl:Class ; - rdfs:label "central core disease"@en, "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007294 ; + rdfs:label "Central core disease"@en, "ใ›ใ‚“ใจใ‚‰ใ‚‹ใ“ใ‚ใณใ‚‡ใ†"@ja-Hira, "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007294 ; skos:prefLabel "ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…"@ja . -:2200871 - :hasNotificationNumber "51" ; - terms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200871" ; - terms:source ; + + nando:hasNotificationNumber "50" ; + dcterms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200871" ; + dcterms:source ; a owl:Class ; - rdfs:label "multicore disease"@en, "ใƒžใƒซใƒใ‚ณใ‚ข็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018948 ; + rdfs:label "Multicore disease"@en, "ใพใ‚‹ใกใ“ใ‚ใณใ‚‡ใ†"@ja-Hira, "ใƒžใƒซใƒใ‚ณใ‚ข็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018948 ; skos:prefLabel "ใƒžใƒซใƒใ‚ณใ‚ข็—…"@ja . -:2200872 - :hasNotificationNumber "53" ; - terms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200872" ; - terms:source ; - a owl:Class ; - rdfs:label "mini core disease"@en, "ใƒŸใƒ‹ใ‚ณใ‚ข็—…"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "52" ; + dcterms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200872" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Minicore myopathy"@en, "ใฟใซใ“ใ‚ใณใ‚‡ใ†"@ja-Hira, "ใƒŸใƒ‹ใ‚ณใ‚ข็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Mini core disease"@en ; + skos:closeMatch obo:MONDO_0009712 ; skos:prefLabel "ใƒŸใƒ‹ใ‚ณใ‚ข็—…"@ja . -:2200873 - :hasNotificationNumber "54" ; - terms:description "็”Ÿ็›ดๅพŒใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸใ‚ˆใ‚Šใ€้ก”้ขใ‚’ๅซใ‚€ๅ…จ่บซใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹้บไผๆ€ง็ญ‹็–พๆ‚ฃใ€‚้ชจๆ ผ็ญ‹ใฎ็—…็†็ต„็น”ๅญฆ็š„็‰นๅพดใ‹ใ‚‰ใ€ใƒใƒžใƒชใƒณใƒŸใ‚ชใƒ‘ใƒใƒผใ€ใ‚ปใƒณใƒˆใƒฉใƒซใ‚ณใ‚ข็—…ใ€ใƒžใƒซใƒใƒŸใƒ‹ใ‚ณใ‚ข็—…ใ€ใƒŸใ‚ชใƒใƒฅใƒ–ใƒฉใƒผใƒŸใ‚ชใƒ‘ใƒใƒผใ€ไธญๅฟƒๆ ธใƒŸใ‚ชใƒ‘ใƒใƒผใ€ๅ…ˆๅคฉๆ€ง็ญ‹็ทš็ถญใ‚ฟใ‚คใƒ—ไธๅ‡็ญ‰็—‡ใ€ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผใ€้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผใชใฉใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200873" ; - terms:source ; - a owl:Class ; - rdfs:label "46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja, "other congenital structural myopathy"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "46ใ‹ใ‚‰51ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . - -:2200874 - :hasNotificationNumber "54" ; - terms:identifier "2200874" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital Neuromuscular Disease with Uniform Type 1 Fiber"@en, "ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "CNMDU1 "@en ; + + nando:hasNotificationNumber "53" ; + dcterms:identifier "NANDO:2200873" ; + dcterms:source ; + a owl:Class ; + rdfs:label "53ใ‹ใ‚‰58ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "53ใ‹ใ‚‰58ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja, "Other congenital structural myopathy"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "53ใ‹ใ‚‰58ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . + + + nando:hasNotificationNumber "53" ; + dcterms:identifier "NANDO:2200874" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital neuromuscular disease with uniform type 1 fiber"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใœใ‚“ใŸใ„ใท1ใ›ใ‚“ใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CNMDU1"@en ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ…จใ‚ฟใ‚คใƒ—๏ผ‘็ทš็ถญใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:2200875 - :hasNotificationNumber "54" ; - terms:identifier "2200875" ; - terms:source ; + + nando:hasNotificationNumber "53" ; + dcterms:identifier "NANDO:2200875" ; + dcterms:source ; a owl:Class ; - rdfs:label "reducing body myopathy"@en, "้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019948 ; + rdfs:label "Reducing body myopathy"@en, "ใ‹ใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใŸใ„ใฟใŠใฑใกใƒผ"@ja-Hira, "้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019948 ; skos:prefLabel "้‚„ๅ…ƒๅฐไฝ“ใƒŸใ‚ชใƒ‘ใƒใƒผ"@ja . -:2200876 - :hasNotificationNumber "22" ; - terms:description "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พคใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจๅ…ฑใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚"@ja ; - terms:identifier "2200876" ; - terms:source ; - a owl:Class ; - rdfs:label "Schwartz-Jampel syndrome"@en, "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Schwartz-Jampel็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009717 ; + + nando:hasNotificationNumber "22" ; + dcterms:description "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ๏ผˆSchwartz-Jampel๏ผ‰็—‡ๅ€™็พคใฏใ€ๅˆฅๅใ€่ปŸ้ชจ็•ฐๆ „้คŠๆ€ง็ญ‹ๅผท็›ด็—‡ใจ็งฐใ•ใ‚Œใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็—‡็Šถใจ่ปŸ้ชจ็•ฐๅธธใ‚’ไผดใ†้บไผๆ€ง็–พๆ‚ฃใงใ€็”Ÿๅ‘ฝไบˆๅพŒใฏ่‰ฏใ„ใŒๆˆ้•ทใจๅ…ฑใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚้ก”้ข็ญ‹ใฎ็ทŠๅผตใฎใŸใ‚็œผ่ฃ‚ใฏ็‹ญๅฐใจใชใ‚Šใ€ๅฃใ‚’ๅฐ–ใ‚‰ใ›ใŸ็‰น้•ท็š„ใช้ก”่ฒŒใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ชจๆ ผ็•ฐๅธธใจใ—ใฆใฏใ€ไฝŽ่บซ้•ทใ€ๅคง้–ข็ฏ€ใฎๅฑˆๆ›ฒๆ‹˜็ธฎ็ญ‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹ใ€‚ใ“ใฎ็–พๆ‚ฃใงใฏใ€้ชจๆ ผ็•ฐๅธธใจใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใ„ใ†็‰น็•ฐใช่‡จๅบŠ็—‡็Šถใฎ็ต„ใฟๅˆใ‚ใ›ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใ€‚ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏใ€็ญ‹ใฎๆŒ็ถšๅŽ็ธฎใ€ๅผ›็ทฉ้šœๅฎณใ‚’ๆ„ๅ‘ณใ—ใ€้€šๅธธ็ญ‹ๅŽŸๆ€งใฎ็—‡็Šถใ‚’ๆŒ‡ใ™ใŒใ€ๆœฌ็–พๆ‚ฃใซใŠใ‘ใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใฏใ€็ญ‹็ทŠๅผตๆ€งใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผใ‚„ใ€ๅ…ˆๅคฉๆ€งใƒŸใ‚ชใƒˆใƒ‹ใ‚ข็ญ‰ใง่ฆณๅฏŸใ•ใ‚Œใ‚‹ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใจใฏ็•ฐใชใฃใŸ็‰นๅพดใ‚’ๆŒใคใŸใ‚็—…ๅ› ้บไผๅญใฎ็™บ่ฆ‹ใจใใฎๅˆ†ๅญๆฉŸๆง‹่งฃๆ˜ŽใŒๅพ…ใŸใ‚Œใฆใ„ใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200876" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Schwartz-Jampel syndrome"@en, "ใ—ใ‚…ใ‚ใ‚‹ใคใƒปใ‚„ใ‚“ใบใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SJS"@en, "Schwartz-Jampel็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009717 ; skos:prefLabel "ใ‚ทใƒฅใƒฏใƒซใƒ„ใƒปใƒคใƒณใƒšใƒซ็—‡ๅ€™็พค"@ja . -:2200877 - :hasNotificationNumber "61" ; - terms:description "ไนณๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚Šใ€ๅ…ฅๆตดใ‚„็™บ็†ฑใง่ช˜็™บใ•ใ‚Œใ‚„ใ™ใ„็„ฆ็‚นๆ€งใ€็‰‡ๅดๆ€งใ‚‚ใ—ใใฏๅ…จ่ˆฌๆ€งใฎ้–“ไปฃๆ€งใ‘ใ„ใ‚Œใ‚“็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€้‡็ฉใƒป็พค็™บๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚1ๆญณ้ ƒใ‚ˆใ‚Šใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใฎใฟใชใ‚‰ใšใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใŒๅ‡บ็พใ—ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใ‚‚ๅœๆปžใ™ใ‚‹ใ€‚ใพใŸไธ€้ƒจใฎไพ‹ใงใฏๅ…‰ใƒปๅ›ณๅฝข้Žๆ•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่ˆฌๆ€งใ‚„็‰‡ๅดๆ€งใฎใ‘ใ„ใ‚Œใ‚“็™บไฝœใจ่ค‡้›‘้ƒจๅˆ†็™บไฝœใฎใฟๅ‘ˆใ—ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ‚’ไฝตๅญ˜ใ—ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ70-80๏ผ…ใฎ็—‡ไพ‹ใงใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ้บไผๅญSCN1Aใฎใƒ˜ใƒ†ใƒญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏๅญฆ็ซฅๆœŸไปฅ้™ใซ่ปฝๆธ›ๅ‚พๅ‘ใจใชใ‚‹ใŒใ€ๅคฑ่ชฟใ‚„ไธๅ™จ็”จ๏ผŒๅคšๅ‹•๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚„่‡ช้–‰ๆ€ง้šœๅฎณใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็”Ÿ็Ž‡ใฏ2๏ฝž4ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚1989ๅนดใฎๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใงใฏๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใจ้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใฎไธก่€…ใฎ็‰นๅพดใ‚’ไฝตๆœ‰ใ™ใ‚‹ๆœชๆฑบๅฎšใฆใ‚“ใ‹ใ‚“ใซใ€2010ๅนดๅˆ†้กž่ฉฆๆกˆใงใฏไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใซๅซใพใ‚Œใ‚‹ใ€‚ใ‹ใฃใฆใฏไนณๅ…ๆœŸ็™บ็—‡ใงใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚ˆใ‚Šไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจๅ‘ผใฐใ‚ŒใŸใŒใ€ๅฟ…ใšใ—ใ‚‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†็—‡ไพ‹ใฐใ‹ใ‚Šใงใฏใชใ„ใ“ใจใ€ไนณๅ…ๆœŸ็™บ็—‡ใงใฏใ‚ใ‚‹ใŒๆˆไบบๆœŸใพใง็ถšใ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚‹ใ“ใจใ‚ˆใ‚Šใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ๅ€™็พคใ‚’ๆๅ”ฑใ—ใŸDravet ใฎๅใซๅ› ใ‚“ใงDravet็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200877" ; - terms:source ; - a owl:Class ; - rdfs:label "Severe myoclonic epilepsy in infancy"@en, "ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Dravet syndrome"@en ; - skos:closeMatch mondo:MONDO_0011794 ; + + nando:hasNotificationNumber "71" ; + dcterms:description "ไนณๅ…ๆœŸ็™บ็—‡ใฎ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚Šใ€ๅ…ฅๆตดใ‚„็™บ็†ฑใง่ช˜็™บใ•ใ‚Œใ‚„ใ™ใ„็„ฆ็‚นๆ€งใ€็‰‡ๅดๆ€งใ‚‚ใ—ใใฏๅ…จ่ˆฌๆ€งใฎ้–“ไปฃๆ€งใ‘ใ„ใ‚Œใ‚“็™บไฝœใ‚’็นฐใ‚Š่ฟ”ใ—ใ€้‡็ฉใƒป็พค็™บๅ‚พๅ‘ใŒใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใง้žๅธธใซ้›ฃๆฒปใงใ‚ใ‚‹ใ€‚1ๆญณ้ ƒใ‚ˆใ‚Šใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใฎใฟใชใ‚‰ใšใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ€่ค‡้›‘้ƒจๅˆ†็™บไฝœใŒๅ‡บ็พใ—ใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใ‚‚ๅœๆปžใ™ใ‚‹ใ€‚ใพใŸไธ€้ƒจใฎไพ‹ใงใฏๅ…‰ใƒปๅ›ณๅฝข้Žๆ•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ๅ…จ่ˆฌๆ€งใ‚„็‰‡ๅดๆ€งใฎใ‘ใ„ใ‚Œใ‚“็™บไฝœใจ่ค‡้›‘้ƒจๅˆ†็™บไฝœใฎใฟๅ‘ˆใ—ใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚„้žๅฎšๅž‹ๆฌ ็ฅž็™บไฝœใ‚’ไฝตๅญ˜ใ—ใชใ„็—‡ไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฏ70-80๏ผ…ใฎ็—‡ไพ‹ใงใƒŠใƒˆใƒชใ‚ฆใƒ ใƒใƒฃใƒณใƒใƒซ้บไผๅญSCN1Aใฎใƒ˜ใƒ†ใƒญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“็™บไฝœใฏๅญฆ็ซฅๆœŸไปฅ้™ใซ่ปฝๆธ›ๅ‚พๅ‘ใจใชใ‚‹ใŒใ€ๅคฑ่ชฟใ‚„ไธๅ™จ็”จ๏ผŒๅคšๅ‹•๏ผŒ็Ÿฅ็š„้šœๅฎณใ‚„่‡ช้–‰ๆ€ง้šœๅฎณใŒๆ˜Žใ‚‰ใ‹ใจใชใ‚‹ใ€‚็™บ็”Ÿ็Ž‡ใฏ2๏ฝž4ไธ‡ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚1989ๅนดใฎๅ›ฝ้š›ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคๅˆ†้กžใงใฏๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใจ้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใฎไธก่€…ใฎ็‰นๅพดใ‚’ไฝตๆœ‰ใ™ใ‚‹ๆœชๆฑบๅฎšใฆใ‚“ใ‹ใ‚“ใซใ€2010ๅนดๅˆ†้กž่ฉฆๆกˆใงใฏไนณๅ…ๆœŸ็™บ็—‡ใฎใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใซๅซใพใ‚Œใ‚‹ใ€‚ใ‹ใฃใฆใฏไนณๅ…ๆœŸ็™บ็—‡ใงใ€ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†ใ“ใจใ‚ˆใ‚Šไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“ใจๅ‘ผใฐใ‚ŒใŸใŒใ€ๅฟ…ใšใ—ใ‚‚ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใ‚’ไผดใ†็—‡ไพ‹ใฐใ‹ใ‚Šใงใฏใชใ„ใ“ใจใ€ไนณๅ…ๆœŸ็™บ็—‡ใงใฏใ‚ใ‚‹ใŒๆˆไบบๆœŸใพใง็ถšใ้›ฃๆฒปใฆใ‚“ใ‹ใ‚“ใงใ‚ใ‚‹ใ“ใจใ‚ˆใ‚Šใ€ๆœ€่ฟ‘ใงใฏๆœฌ็—‡ๅ€™็พคใ‚’ๆๅ”ฑใ—ใŸDravet ใฎๅใซๅ› ใ‚“ใงDravet็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200877" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Severe myoclonic epilepsy in infancy"@en, "ใซใ‚…ใ†ใ˜ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใฟใŠใใ‚ใซใƒผใฆใ‚“ใ‹ใ‚“"@ja-Hira, "ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Dravet syndrome"@en, "Dravet็—‡ๅ€™็พค"@ja, "ใƒ‰ใƒฉใƒ™็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0100135 ; skos:prefLabel "ไนณๅ…้‡็—‡ใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผใฆใ‚“ใ‹ใ‚“"@ja . -:2200878 - :hasNotificationNumber "60" ; - terms:description "ๆฌง็ฑณใงใฏinfantile spasmsใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใใฎๆˆๅ› ใฏๅคšๅฝฉใงใ‚ใ‚Šใ€ๅ‡บ็”Ÿๅ‰็”ฑๆฅใฎ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใ‹ใ‚‰ๅพŒๅคฉ็š„ใชๆ€ฅๆ€ง่„ณ็‚ŽๅพŒ้บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅ‰ใฎ็™บ้”ใฏใ€้‡ๅบฆใฎ้…ใ‚ŒใŒใ‚ใ‚‹ๅ ดๅˆใ‹ใ‚‰ๆญฃๅธธ็™บ้”ใพใงใ‚ใ‚‹ใ€‚ๅฅฝ็™บๅนด้ฝขใฏ1ๆญณไปฅไธ‹ใงใ€2ๆญณไปฅไธŠใฏ็จ€ใงใ‚ใ‚‹ใ€‚ใใฎ็™บไฝœใฏ็‰น็•ฐใงใ‚ใ‚Šใ€ๅบงไฝใ‚„็ซ‹ไฝใงใฏ้ ญ้ƒจใ‚’ไธ€็žฌๅž‚ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๆœฌใงใฏ็‚น้ ญใฆใ‚“ใ‹ใ‚“็™บไฝœใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใซๅˆ†้กžใ•ใ‚ŒใŸใ‚Šใ€ๅผท็›ด็™บไฝœใซ่ฟ‘ใ„ใจใ„ใ†ใ“ใจใงๅผท็›ดใ‚นใƒ‘ใ‚นใƒ ใ‚นใจๅ‘ผใฐใ‚ŒใŸใ‚Šใ—ใŸๆ™‚ๆœŸใ‚‚ใ‚ใฃใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็‹ฌ็ซ‹ใ—ใŸ็™บไฝœๅž‹ๆฆ‚ๅฟตใจใ—ใฆใ€Œใฆใ‚“ใ‹ใ‚“ๆ€งใ‚นใƒ‘ใ‚นใƒ ใ‚น๏ผˆEpileptic spasms: ES๏ผ‰ใ€ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็™บไฝœใฏๅ˜็‹ฌใงใ‚‚ๅ‡บ็พใ™ใ‚‹ใŒใ€ๅคšใใฏใ€Œใ‚ทใƒชใƒผใ‚บๅฝขๆˆใ€ใจ็งฐใ•ใ‚Œใ‚‹ๆง˜ใซๅ‘จๆœŸๆ€ง๏ผˆ5-10็ง’ๆฏŽ๏ผ‰ใซๅ‡บ็พใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚่„ณๆณขๆ‰€่ฆ‹ใ‚‚็‰นๅพด็š„ใงใ€Gibbsใ‚‰ใซใ‚ˆใ‚Šใ€Œใƒ’ใƒ—ใ‚นใ‚ขใƒชใ‚นใƒŸใ‚ขใ€ใจๅ‘ฝๅใ•ใ‚ŒใŸ็„ก็งฉๅบใช้ซ˜ๆŒฏๅน…ๅพๆณขใจๆฃ˜ๆณขใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹็‰น็•ฐใช็™บไฝœ้–“ๆฌ ๆœŸ่„ณๆณขใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ฆš้†’ๆ™‚ใ€็ก็œ ๆ™‚ใ‚’ๅ•ใ‚ใšใปใผ้€ฃ็ถšใ—ใฆ้ซ˜ๅบฆใฎๅ…จ่ˆฌๆ€ง็•ฐๅธธๆณขใŒๅ‡บ็พใ—ใ€West็—‡ๅ€™็พคใŒๅฑžใ™ใ‚‹ใ€Œใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€ใฎๆฆ‚ๅฟตใฎไธญๆ ธใ‚’ๆˆใ™ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚็™บไฝœไบˆๅพŒใ€็Ÿฅ็š„ไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใ€ๆ€ฅ้€Ÿใช็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎๅœๆญขใ‚„้€€่กŒใฏไธๅฏ้€†ๆ€งใฎๅ ดๅˆใŒๅคšใ„ใ€‚ๆฒป็™‚ๆณ•ใซใฏ้™็•ŒใŒใ‚ใ‚‹ใŒใ€ใƒใ‚คใ‚ฌใƒใƒˆใƒชใƒณใ‚„ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocorticotropic hormone: ACTH)็™‚ๆณ•ใŒๆœฌ็—‡ๅ€™็พคๆฒป็™‚ใฎไธปๆตใ‚’ๆˆใ—ใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200878" ; - terms:source ; - a owl:Class ; - rdfs:label "West syndrome"@en, "็‚น้ ญใฆใ‚“ใ‹ใ‚“"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0018097 ; + + nando:hasNotificationNumber "70" ; + dcterms:description "ๆฌง็ฑณใงใฏinfantile spasmsใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใใฎๆˆๅ› ใฏๅคšๅฝฉใงใ‚ใ‚Šใ€ๅ‡บ็”Ÿๅ‰็”ฑๆฅใฎ็ต็ฏ€ๆ€ง็กฌๅŒ–็—‡ใ‹ใ‚‰ๅพŒๅคฉ็š„ใชๆ€ฅๆ€ง่„ณ็‚ŽๅพŒ้บ็—‡ใพใงๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚็™บ็—‡ๅ‰ใฎ็™บ้”ใฏใ€้‡ๅบฆใฎ้…ใ‚ŒใŒใ‚ใ‚‹ๅ ดๅˆใ‹ใ‚‰ๆญฃๅธธ็™บ้”ใพใงใ‚ใ‚‹ใ€‚ๅฅฝ็™บๅนด้ฝขใฏ1ๆญณไปฅไธ‹ใงใ€2ๆญณไปฅไธŠใฏ็จ€ใงใ‚ใ‚‹ใ€‚ใใฎ็™บไฝœใฏ็‰น็•ฐใงใ‚ใ‚Šใ€ๅบงไฝใ‚„็ซ‹ไฝใงใฏ้ ญ้ƒจใ‚’ไธ€็žฌๅž‚ใ‚Œใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๆ—ฅๆœฌใงใฏ็‚น้ ญใฆใ‚“ใ‹ใ‚“็™บไฝœใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใฏใƒŸใ‚ชใ‚ฏใƒญใƒ‹ใƒผ็™บไฝœใซๅˆ†้กžใ•ใ‚ŒใŸใ‚Šใ€ๅผท็›ด็™บไฝœใซ่ฟ‘ใ„ใจใ„ใ†ใ“ใจใงๅผท็›ดใ‚นใƒ‘ใ‚นใƒ ใ‚นใจๅ‘ผใฐใ‚ŒใŸใ‚Šใ—ใŸๆ™‚ๆœŸใ‚‚ใ‚ใฃใŸใŒใ€ๆœ€่ฟ‘ใงใฏ็‹ฌ็ซ‹ใ—ใŸ็™บไฝœๅž‹ๆฆ‚ๅฟตใจใ—ใฆใ€Œใฆใ‚“ใ‹ใ‚“ๆ€งใ‚นใƒ‘ใ‚นใƒ ใ‚น๏ผˆEpileptic spasms: ES๏ผ‰ใ€ใจใ—ใฆๅˆ†้กžใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็™บไฝœใฏๅ˜็‹ฌใงใ‚‚ๅ‡บ็พใ™ใ‚‹ใŒใ€ๅคšใใฏใ€Œใ‚ทใƒชใƒผใ‚บๅฝขๆˆใ€ใจ็งฐใ•ใ‚Œใ‚‹ๆง˜ใซๅ‘จๆœŸๆ€ง๏ผˆ5-10็ง’ๆฏŽ๏ผ‰ใซๅ‡บ็พใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚่„ณๆณขๆ‰€่ฆ‹ใ‚‚็‰นๅพด็š„ใงใ€Gibbsใ‚‰ใซใ‚ˆใ‚Šใ€Œใƒ’ใƒ—ใ‚นใ‚ขใƒชใ‚นใƒŸใ‚ขใ€ใจๅ‘ฝๅใ•ใ‚ŒใŸ็„ก็งฉๅบใช้ซ˜ๆŒฏๅน…ๅพๆณขใจๆฃ˜ๆณขใ‹ใ‚‰ๆง‹ๆˆใ•ใ‚Œใ‚‹็‰น็•ฐใช็™บไฝœ้–“ๆฌ ๆœŸ่„ณๆณขใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่ฆš้†’ๆ™‚ใ€็ก็œ ๆ™‚ใ‚’ๅ•ใ‚ใšใปใผ้€ฃ็ถšใ—ใฆ้ซ˜ๅบฆใฎๅ…จ่ˆฌๆ€ง็•ฐๅธธๆณขใŒๅ‡บ็พใ—ใ€West็—‡ๅ€™็พคใŒๅฑžใ™ใ‚‹ใ€Œใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใ€ใฎๆฆ‚ๅฟตใฎไธญๆ ธใ‚’ๆˆใ™ๆ‰€่ฆ‹ใงใ‚ใ‚‹ใ€‚็™บไฝœไบˆๅพŒใ€็Ÿฅ็š„ไบˆๅพŒใฏไธ่‰ฏใจใ•ใ‚Œใ€ๆ€ฅ้€Ÿใช็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎๅœๆญขใ‚„้€€่กŒใฏไธๅฏ้€†ๆ€งใฎๅ ดๅˆใŒๅคšใ„ใ€‚ๆฒป็™‚ๆณ•ใซใฏ้™็•ŒใŒใ‚ใ‚‹ใŒใ€ใƒใ‚คใ‚ฌใƒใƒˆใƒชใƒณใ‚„ๅ‰ฏ่…Ž็šฎ่ณชๅˆบๆฟ€ใƒ›ใƒซใƒขใƒณ(adrenocorticotropic hormone: ACTH)็™‚ๆณ•ใŒๆœฌ็—‡ๅ€™็พคๆฒป็™‚ใฎไธปๆตใ‚’ๆˆใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200878" ; + dcterms:source ; + a owl:Class ; + rdfs:label "West syndrome"@en, "ใฆใ‚“ใจใ†ใฆใ‚“ใ‹ใ‚“"@ja-Hira, "็‚น้ ญใฆใ‚“ใ‹ใ‚“"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Infantile spasms"@en, "West็—‡ๅ€™็พค"@ja, "ใ‚ฆใ‚จใ‚นใƒˆ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018097 ; skos:prefLabel "็‚น้ ญใฆใ‚“ใ‹ใ‚“"@ja . -:2200879 - :hasNotificationNumber "62" ; - terms:description "2็จฎ้กžไปฅไธŠใฎ็Ÿญใ„ๅ…จ่ˆฌ็™บไฝœใจใ€่„ณๆณขใง3Hzใ‚ˆใ‚Š้…ใ„ๅบƒๆฑŽๆ€ง็ทฉๅพๆ€งๆฃ˜ๅพๆณขใจ็ก็œ ๆ™‚ใฎๅ…จ่ˆฌๆ€ง้€Ÿๆณขๅพ‹ๅ‹•๏ผˆrapid rhythmใ€ๅ›ฝ้š›็š„ใซใฏburst of fast rhythm generalized paroxysmal fast activity๏ผ‰ใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€็™บไฝœใฏๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚Š๏ผˆ้•ทๆœŸใฎ็™บไฝœๆŠ‘ๅˆถใฏ็ด„5%๏ผ‰ใ€็Ÿฅ็š„้šœๅฎณใŒใปใผ100๏ผ…ใจใชใ‚‹ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃๅ๏ผˆILAE๏ผ‰ใฎ1989ๅนดๅˆ†้กžใงใฏใ€ๆฝœๅ› ๆ€งใพใŸใฏ็—‡ๅ€™ๆ€งๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใŠใ‚‚ใซๅนผๅ…ๆœŸ๏ผˆ1๏ฝž8ๆญณใ€ใƒ”ใƒผใ‚ฏใฏ3๏ฝž5ๆญณ๏ผ‰ใซ็™บ็—‡ใ‚ใ‚‹ใ„ใฏไป–ใฎใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค๏ผˆ็‰นใซWest็—‡ๅ€™็พค๏ผ‰ใ‹ใ‚‰ๅค‰ๅฎนใ™ใ‚‹ใ€‚2ๆญณไปฅๅ‰ใฎ็™บ็—‡ใ‚‚20๏ผ…ใฏใ‚ใ‚‹ใŒใ€10ๆญณไปฅ้™ใฎ็™บ็—‡ใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใซ50๏ฝž75๏ผ…ใฎไพ‹ใงใ‘ใ„ใ‚Œใ‚“ๆ€งใ‚ใ‚‹ใ„ใฏ้žใ‘ใ„ใ‚Œใ‚“ๆ€งใฎใฆใ‚“ใ‹ใ‚“้‡็ฉใ‚’็ตŒ้จ“ใ—ใ€ใ—ใฐใ—ใฐ็ฒพ็ฅž้‹ๅ‹•้€€่กŒใ‚’็คบใ™ใ€‚"@ja ; - terms:identifier "2200879" ; - terms:source ; + + nando:hasNotificationNumber "77" ; + dcterms:description "2็จฎ้กžไปฅไธŠใฎ็Ÿญใ„ๅ…จ่ˆฌ็™บไฝœใจใ€่„ณๆณขใง3Hzใ‚ˆใ‚Š้…ใ„ๅบƒๆฑŽๆ€ง็ทฉๅพๆ€งๆฃ˜ๅพๆณขใจ็ก็œ ๆ™‚ใฎๅ…จ่ˆฌๆ€ง้€Ÿๆณขๅพ‹ๅ‹•๏ผˆrapid rhythmใ€ๅ›ฝ้š›็š„ใซใฏburst of fast rhythm generalized paroxysmal fast activity๏ผ‰ใ‚’็คบใ™ใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พคใงใ€็™บไฝœใฏๆฅตใ‚ใฆ้›ฃๆฒปใงใ‚ใ‚Š๏ผˆ้•ทๆœŸใฎ็™บไฝœๆŠ‘ๅˆถใฏ็ด„5%๏ผ‰ใ€็Ÿฅ็š„้šœๅฎณใŒใปใผ100๏ผ…ใจใชใ‚‹ใฆใ‚“ใ‹ใ‚“ๆ€ง่„ณ็—‡ใงใ‚ใ‚‹ใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃๅ๏ผˆILAE๏ผ‰ใฎ1989ๅนดๅˆ†้กžใงใฏใ€ๆฝœๅ› ๆ€งใพใŸใฏ็—‡ๅ€™ๆ€งๅ…จ่ˆฌใฆใ‚“ใ‹ใ‚“ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใŠใ‚‚ใซๅนผๅ…ๆœŸ๏ผˆ1๏ฝž8ๆญณใ€ใƒ”ใƒผใ‚ฏใฏ3๏ฝž5ๆญณ๏ผ‰ใซ็™บ็—‡ใ‚ใ‚‹ใ„ใฏไป–ใฎใฆใ‚“ใ‹ใ‚“็—‡ๅ€™็พค๏ผˆ็‰นใซWest็—‡ๅ€™็พค๏ผ‰ใ‹ใ‚‰ๅค‰ๅฎนใ™ใ‚‹ใ€‚2ๆญณไปฅๅ‰ใฎ็™บ็—‡ใ‚‚20๏ผ…ใฏใ‚ใ‚‹ใŒใ€10ๆญณไปฅ้™ใฎ็™บ็—‡ใฏๆฅตใ‚ใฆใพใ‚Œใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใซ50๏ฝž75๏ผ…ใฎไพ‹ใงใ‘ใ„ใ‚Œใ‚“ๆ€งใ‚ใ‚‹ใ„ใฏ้žใ‘ใ„ใ‚Œใ‚“ๆ€งใฎใฆใ‚“ใ‹ใ‚“้‡็ฉใ‚’็ตŒ้จ“ใ—ใ€ใ—ใฐใ—ใฐ็ฒพ็ฅž้‹ๅ‹•้€€่กŒใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200879" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lennox-Gastaut syndrome"@en, "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Lennox-Gastaut syndrome"@en, "ใ‚Œใฎใฃใใ™ใƒปใŒใ™ใจใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Lennox-Gastaut็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0016532 ; + skos:closeMatch obo:MONDO_0016532 ; skos:prefLabel "ใƒฌใƒŽใƒƒใ‚ฏใ‚นใƒปใ‚ฌใ‚นใƒˆใƒผ็—‡ๅ€™็พค"@ja . -:2200880 - :hasNotificationNumber "29" ; - terms:description "Unverricht-Lundborg็—…ใฏใ‚ทใ‚นใ‚ฟใƒใƒณB๏ผˆCSTB๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฎไธ€็—…ๅž‹ใงใ‚ใ‚‹ใ€‚ๅญฆ้ฝขๆœŸ๏ผˆ6ใ€œ15ๆญณ้ ƒ๏ผ‰ใซ็™บ็—‡ใ—ใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น็™บไฝœใ€ๅฐ่„ณๅคฑ่ชฟ็—‡็Šถใ€่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚็™บไฝœใฏ่บซไฝ“ๆดปๅ‹•ใ€็ฒพ็ฅž็š„ใ‚นใƒˆใƒฌใ‚นใ€ๅ…‰ๅˆบๆฟ€ใชใฉใซใ‚ˆใฃใฆ่ช˜็™บใ•ใ‚Œใ€็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใซใ‚ˆใ‚Š5ใ€œ10ๅนดใงๆญฉ่กŒๅ›ฐ้›ฃใจใชใ‚‹ใจใ•ใ‚ŒใฆใใŸใŒใ€่ฟ‘ๅนด่–ฌ็‰ฉ็™‚ๆณ•ใฎ้€ฒๆญฉใชใฉใซใ‚ˆใ‚Šๆญฉ่กŒไบˆๅพŒใŒๆ”นๅ–„ใ—ใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200880" ; - terms:source ; - a owl:Class ; - rdfs:label "Unverricht-Lundborg disease"@en, "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Unverricht-Lundborg็—…"@ja ; - skos:closeMatch mondo:MONDO_0009698 ; + + nando:hasNotificationNumber "29" ; + dcterms:description "Unverricht-Lundborg็—…ใฏใ‚ทใ‚นใ‚ฟใƒใƒณB๏ผˆCSTB๏ผ‰้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“ใฎไธ€็—…ๅž‹ใงใ‚ใ‚‹ใ€‚ๅญฆ้ฝขๆœŸ๏ผˆ6ใ€œ15ๆญณ้ ƒ๏ผ‰ใซ็™บ็—‡ใ—ใ€ใ‘ใ„ใ‚Œใ‚“็™บไฝœใ€ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚น็™บไฝœใ€ๅฐ่„ณๅคฑ่ชฟ็—‡็Šถใ€่ช็ŸฅๆฉŸ่ƒฝไฝŽไธ‹ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚็™บไฝœใฏ่บซไฝ“ๆดปๅ‹•ใ€็ฒพ็ฅž็š„ใ‚นใƒˆใƒฌใ‚นใ€ๅ…‰ๅˆบๆฟ€ใชใฉใซใ‚ˆใฃใฆ่ช˜็™บใ•ใ‚Œใ€็ทฉๅพ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚‹ใ€‚้€ฒ่กŒๆ€งใฎใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใซใ‚ˆใ‚Š5ใ€œ10ๅนดใงๆญฉ่กŒๅ›ฐ้›ฃใจใชใ‚‹ใจใ•ใ‚ŒใฆใใŸใŒใ€่ฟ‘ๅนด่–ฌ็‰ฉ็™‚ๆณ•ใฎ้€ฒๆญฉใชใฉใซใ‚ˆใ‚Šๆญฉ่กŒไบˆๅพŒใŒๆ”นๅ–„ใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200880" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Unverricht-Lundborg disease"@en, "ใ†ใ‚“ใตใ‡ใ‚‹ใ‚Šใฒใจใƒปใ‚‹ใ‚“ใจใผใ‚‹ใใณใ‚‡ใ†"@ja-Hira, "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ULD"@en, "Unverricht-Lundborg็—…"@ja ; + skos:closeMatch obo:MONDO_0009698 ; skos:prefLabel "ใ‚ฆใƒณใƒ•ใ‚งใƒซใƒชใƒ’ใƒˆใƒปใƒซใƒณใƒˆใƒœใƒซใ‚ฏ็—…"@ja . -:2200881 - :hasNotificationNumber "30" ; - terms:description "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonic epilepsy๏ผšPME๏ผ‰ใฎๅŽŸๅ› ็–พๆ‚ฃใฎไธ€ใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™้€ฒ่กŒๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใ€‚็ฅž็ตŒ็ดฐ่ƒžใ‚„ๅฟƒ็ญ‹็ดฐ่ƒžใซperiodic acid Schiff๏ผˆPAS๏ผ‰ๆŸ“่‰ฒ้™ฝๆ€งใฎๅ‡้›†ไฝ“ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฅๅ‰ใฏ็šฎ่†šใ‚„็ฅž็ตŒ็”Ÿๆคœใงใƒฉใƒ•ใ‚ฉใƒฉ๏ผˆLafora๏ผ‰ๅฐไฝ“ใ‚’่จผๆ˜Žใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚่ฟ‘ๅนดใ€ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œไธ€้ƒจใฎๅฐ‚้–€ๆ–ฝ่จญใงใฏ้บไผๅญ่จบๆ–ญใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200881" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "ใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๅฐ่„ณๆ€ง้‹ๅ‹•ๅคฑ่ชฟใ€็Ÿฅ็š„้šœๅฎณใชใฉใ‚’ๅ‘ˆใ™ใ‚‹้€ฒ่กŒๆ€งใƒŸใ‚ชใ‚ฏใƒญใƒผใƒŒใ‚นใฆใ‚“ใ‹ใ‚“๏ผˆprogressive myoclonic epilepsy๏ผšPME๏ผ‰ใฎๅŽŸๅ› ็–พๆ‚ฃใฎไธ€ใคใงใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใ‚’็คบใ™้€ฒ่กŒๆ€งใฎ็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃใ€‚็ฅž็ตŒ็ดฐ่ƒžใ‚„ๅฟƒ็ญ‹็ดฐ่ƒžใซperiodic acid Schiff๏ผˆPAS๏ผ‰ๆŸ“่‰ฒ้™ฝๆ€งใฎๅ‡้›†ไฝ“ใŒๆฒˆ็€ใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ไปฅๅ‰ใฏ็šฎ่†šใ‚„็ฅž็ตŒ็”Ÿๆคœใงใƒฉใƒ•ใ‚ฉใƒฉ๏ผˆLafora๏ผ‰ๅฐไฝ“ใ‚’่จผๆ˜Žใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใฆใ„ใŸใ€‚่ฟ‘ๅนดใ€ๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œไธ€้ƒจใฎๅฐ‚้–€ๆ–ฝ่จญใงใฏ้บไผๅญ่จบๆ–ญใŒ่กŒใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200881" ; + dcterms:source ; a owl:Class ; - rdfs:label "Lafora disease"@en, "ใƒฉใƒ•ใ‚ฉใƒฉ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Lafora disease"@en, "ใ‚‰ใตใ‰ใ‚‰ใณใ‚‡ใ†"@ja-Hira, "ใƒฉใƒ•ใ‚ฉใƒฉ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Lafora็—…"@ja ; - skos:closeMatch mondo:MONDO_0009697 ; + skos:closeMatch obo:MONDO_0009697 ; skos:prefLabel "ใƒฉใƒ•ใ‚ฉใƒฉ็—…"@ja . -:2200882 - :hasNotificationNumber "36" ; - terms:description "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ ่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ€ไฝ•ใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒใ‚ใ ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใค็‰ฉ๏ผˆ้ž็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200882" ; - terms:source ; + + nando:hasNotificationNumber "36" ; + dcterms:description "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡ใจใฏใ€้‹ๅ‹•ๅคฑ่ชฟใ‚’ไธป็—‡็Šถใจใ—ใ€ๅŽŸๅ› ใŒใ€ๆ„ŸๆŸ“็—‡ใ€ไธญๆฏ’ใ€่…ซ็˜ใ€ๆ „้คŠ็ด ใฎๆฌ ไนใ€ๅฅ‡ๅฝขใ€่ก€็ฎก้šœๅฎณใ€่‡ชๅทฑๅ…็–ซๆ€ง็–พๆ‚ฃ็ญ‰ใซใ‚ˆใ‚‰ใชใ„็–พๆ‚ฃใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ ่‡จๅบŠ็š„ใซใฏๅฐ่„ณๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’ไธปไฝ“ใจใ™ใ‚‹ใ€‚้บไผๆ€งใจๅญค็™บๆ€งใซๅคงๅˆฅใ•ใ‚Œใ€ไฝ•ใ‚Œใ‚‚ๅฐ่„ณ็—‡็ŠถใฎใฟใŒใ‚ใ ใคใ‚‚ใฎ๏ผˆ็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใจใ€ๅฐ่„ณไปฅๅค–ใฎ็—…ๅค‰ใ€็—‡็ŠถใŒ็›ฎ็ซ‹ใค็‰ฉ๏ผˆ้ž็ด”็ฒ‹ๅฐ่„ณๅž‹๏ผ‰ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ๅŠฃๆ€ง้บไผๆ€งใฎไธ€้ƒจใงๅพŒ็ดขๆ€งใฎ้‹ๅ‹•ๅคฑ่ชฟ็—‡็Šถใ‚’็คบใ™ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200882" ; + dcterms:source ; a owl:Class ; - rdfs:label "spinocerebellar degeneration"@en, "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Spinocerebellar degeneration"@en, "ใ›ใใšใ„ใ—ใ‚‡ใ†ใฎใ†ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "SCD"@en ; - skos:closeMatch mondo:MONDO_0000359, mondo:MONDO_0000437, mondo:MONDO_0007374, mondo:MONDO_0018484 ; + skos:closeMatch obo:MONDO_0000437 ; skos:prefLabel "่„Š้ซ„ๅฐ่„ณๅค‰ๆ€ง็—‡"@ja . -:2200883 - :hasNotificationNumber "23" ; - terms:description "ไนณๅ…ๆœŸใ‹ใ‚‰ๅนผๅ…ๆœŸๅˆใ‚ใพใงใซ็™บ็—‡ใ™ใ‚‹ๅทฆๅณไธๅฎšใฎไธ€้Žๆ€ง้บป็—บ็—‡็Šถใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚็Ÿฅ็š„้šœๅฎณใจ้‹ๅ‹•้šœๅฎณใ‚’ไผดใ†ใ€‚"@ja ; - terms:identifier "2200883" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "ไนณๅ…ๆœŸใ‹ใ‚‰ๅนผๅ…ๆœŸๅˆใ‚ใพใงใซ็™บ็—‡ใ™ใ‚‹ๅทฆๅณไธๅฎšใฎไธ€้Žๆ€ง้บป็—บ็—‡็Šถใ‚’็นฐใ‚Š่ฟ”ใ™็–พๆ‚ฃใ€‚็Ÿฅ็š„้šœๅฎณใจ้‹ๅ‹•้šœๅฎณใ‚’ไผดใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200883" ; + dcterms:source ; a owl:Class ; - rdfs:label "alternating hemiplegia of childhood"@en, "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Alternating hemiplegia of childhood"@en, "ใ—ใ‚‡ใ†ใซใ“ใ†ใ”ใ›ใ„ใ‹ใŸใพใฒ"@ja-Hira, "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AHC"@en ; - skos:closeMatch mondo:MONDO_0010264, mondo:MONDO_0016241 ; + skos:closeMatch obo:MONDO_0016241 ; skos:prefLabel "ๅฐๅ…ไบคไบ’ๆ€ง็‰‡้บป็—บ"@ja . -:2200884 - :hasNotificationNumber "77" ; - terms:description "ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใฏใ€ๆŒ็ถšๆ€งใพใŸใฏๅๅพฉๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚‹็•ฐๅธธๅงฟๅ‹ขใ‚„ไธ้šๆ„้‹ๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹้‹ๅ‹•็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใƒผใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃ็พคใฎๅ†…ใงใ€่„ณใฎๅ™จ่ณช็š„็—…ๅค‰ใ‚„ๅค‰ๆ€งใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งใ‚ธใ‚นใƒˆใƒ‹ใƒผใจๅ‘ผใณใ€่ฟ‘ๅนดๆ•ฐๅคšใใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(DYTใ‚ทใƒชใƒผใ‚บ)ใ€‚ใ“ใ“ใงใฏDYTใ‚ทใƒชใƒผใ‚บใซๅซใพใ‚Œใ‚‹็–พๆ‚ฃ็พคใ‚’ใ€ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; - terms:identifier "2200884" ; - terms:source ; + + nando:hasNotificationNumber "96" ; + dcterms:description "ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใฏใ€ๆŒ็ถšๆ€งใพใŸใฏๅๅพฉๆ€งใฎ็ญ‹ๅŽ็ธฎใซใ‚ˆใ‚‹็•ฐๅธธๅงฟๅ‹ขใ‚„ไธ้šๆ„้‹ๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹้‹ๅ‹•็•ฐๅธธ็—‡ใงใ‚ใ‚‹ใ€‚ใ‚ธใ‚นใƒˆใƒ‹ใƒผใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃ็พคใฎๅ†…ใงใ€่„ณใฎๅ™จ่ณช็š„็—…ๅค‰ใ‚„ๅค‰ๆ€งใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ไธ€ๆฌกๆ€งใ‚ธใ‚นใƒˆใƒ‹ใƒผใจๅ‘ผใณใ€่ฟ‘ๅนดๆ•ฐๅคšใใฎๅŽŸๅ› ้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹(DYTใ‚ทใƒชใƒผใ‚บ)ใ€‚ใ“ใ“ใงใฏDYTใ‚ทใƒชใƒผใ‚บใซๅซใพใ‚Œใ‚‹็–พๆ‚ฃ็พคใ‚’ใ€ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200884" ; + dcterms:source ; a owl:Class ; - rdfs:label "dystonia musculorum deformans"@en, "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0000476, mondo:MONDO_0007492, mondo:MONDO_0044811 ; + rdfs:label "Dystonia musculorum deformans"@en, "ใธใ‚“ใ‘ใ„ใ›ใ„ใใ‚“ใ˜ใ™ใจใซใƒผ"@ja-Hira, "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007492 ; skos:prefLabel "ๅค‰ๅฝขๆ€ง็ญ‹ใ‚ธใ‚นใƒˆใƒ‹ใƒผ"@ja . -:2200885 - :hasNotificationNumber "76" ; - terms:description "็€ฌๅท็—…ใฏ1971ๅนดใซ็€ฌๅทใ‚‰1)ใŒใ€ใ€Œ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€งๅคง่„ณๅŸบๅบ•ๆ ธ็–พๆ‚ฃใ€ใจใ—ใฆไธ–็•Œใงใฏใ˜ใ‚ใฆๅฐๅ…ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใ€‚ 1990ๅนดใซ่—ค็”ฐใƒปๆ–ฐๅฎ…2)ใซใ‚ˆใ‚Š็€ฌๅท็—…ๆ‚ฃ่€…ใฎ้ซ„ๆถฒไธญใƒ—ใƒ†ใƒชใ‚ธใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ GTPใ‚ทใ‚ฏใƒญใ‚ทใƒ‰ใƒญใƒฉใƒผใ‚ผโ… ๏ผˆGTPCH๏ผ‰ๆดปๆ€งใฎไฝŽไธ‹ใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใŸใŒใ€1994ๅนดใซไธ€็€ฌใ‚‰3)ใซใ‚ˆใ‚Š ็€ฌๅท็—…ๆ‚ฃ่€…ใงGTPCH้บไผๅญ๏ผˆGCH1๏ผ‰ใฎๅค‰็•ฐใŒ็‰‡ๆ–นใฎใ‚ขใƒชใƒซใซ็™บ่ฆ‹ใ•ใ‚Œใ€GTPCHใฎ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใ—ใฆDYT5ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€็—…ๅ› ใฏ่ฃœ้…ต็ด ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅˆๆˆ้šœๅฎณใซใ‚ˆใ‚‹็ฅž็ตŒไผ้”็‰ฉ่ณช็—…ใงใ‚ใ‚Šใ€ ็พๅœจใงใฏๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็ฌฌ14ๆŸ“่‰ฒไฝ“๏ผˆ14q22.1-22.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹GCH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ ้ป’่ณช็ทšๆกไฝ“ใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ณป็ต‚ๆœซ้ƒจใฎใƒ‰ใƒ‘ใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹ๅ›บ็ธฎๅž‹็ญ‹็ทŠๅผต็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขๅงฟๅ‹ขใŠใ‚ˆใณใ‚ธใ‚นใƒˆใƒ‹ใ‚ข้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ ๅ…ธๅž‹ไพ‹ใฏ10ๆญณไปฅไธ‹ใซ็™บ็—‡ใ™ใ‚‹ใŒๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฅณๆ€งๅ„ชไฝใฎๆ€งๅทฎใ‚’ๆœ‰ใ™ใ‚‹๏ผˆ็”ท๏ผšๅฅณ๏ผ1๏ผš4๏ผ‰ใ€‚ ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใจใใซๅฐๅ…ๆœŸใฎๅงฟๅ‹ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200885" ; - terms:source ; + + nando:hasNotificationNumber "95" ; + dcterms:description "็€ฌๅท็—…ใฏ1971ๅนดใซ็€ฌๅทใ‚‰1)ใŒใ€ใ€Œ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹้บไผๆ€ง้€ฒ่กŒๆ€งๅคง่„ณๅŸบๅบ•ๆ ธ็–พๆ‚ฃใ€ใจใ—ใฆไธ–็•Œใงใฏใ˜ใ‚ใฆๅฐๅ…ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใ€‚ 1990ๅนดใซ่—ค็”ฐใƒปๆ–ฐๅฎ…2)ใซใ‚ˆใ‚Š็€ฌๅท็—…ๆ‚ฃ่€…ใฎ้ซ„ๆถฒไธญใƒ—ใƒ†ใƒชใ‚ธใƒณๆฟƒๅบฆใฎไฝŽไธ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใ€ GTPใ‚ทใ‚ฏใƒญใ‚ทใƒ‰ใƒญใƒฉใƒผใ‚ผโ… ๏ผˆGTPCH๏ผ‰ๆดปๆ€งใฎไฝŽไธ‹ใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใŸใŒใ€1994ๅนดใซไธ€็€ฌใ‚‰3)ใซใ‚ˆใ‚Š ็€ฌๅท็—…ๆ‚ฃ่€…ใงGTPCH้บไผๅญ๏ผˆGCH1๏ผ‰ใฎๅค‰็•ฐใŒ็‰‡ๆ–นใฎใ‚ขใƒชใƒซใซ็™บ่ฆ‹ใ•ใ‚Œใ€GTPCHใฎ้ƒจๅˆ†ๆฌ ๆใซใ‚ˆใฃใฆ่ตทใ“ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚ŒใŸใ€‚ ้บไผๆ€งใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใจใ—ใฆDYT5ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใŸใŒใ€็—…ๅ› ใฏ่ฃœ้…ต็ด ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅˆๆˆ้šœๅฎณใซใ‚ˆใ‚‹็ฅž็ตŒไผ้”็‰ฉ่ณช็—…ใงใ‚ใ‚Šใ€ ็พๅœจใงใฏๅ…ˆๅคฉไปฃ่ฌ็•ฐๅธธ็—‡ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็ฌฌ14ๆŸ“่‰ฒไฝ“๏ผˆ14q22.1-22.2๏ผ‰ใซๅญ˜ๅœจใ™ใ‚‹GCH1ใฎๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ€ ้ป’่ณช็ทšๆกไฝ“ใƒ‰ใƒ‘ใƒŸใƒณ็ฅž็ตŒ็ณป็ต‚ๆœซ้ƒจใฎใƒ‰ใƒ‘ใƒŸใƒณๆฌ ไนใซใ‚ˆใ‚‹ๅ›บ็ธฎๅž‹็ญ‹็ทŠๅผต็•ฐๅธธใซใ‚ˆใ‚‹ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขๅงฟๅ‹ขใŠใ‚ˆใณใ‚ธใ‚นใƒˆใƒ‹ใ‚ข้‹ๅ‹•ใ‚’ไธป็—‡็Šถใจใ™ใ‚‹ใ€‚ ๅ…ธๅž‹ไพ‹ใฏ10ๆญณไปฅไธ‹ใซ็™บ็—‡ใ™ใ‚‹ใŒๆˆไบบ็™บ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅฅณๆ€งๅ„ชไฝใฎๆ€งๅทฎใ‚’ๆœ‰ใ™ใ‚‹๏ผˆ็”ท๏ผšๅฅณ๏ผ1๏ผš4๏ผ‰ใ€‚ ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ใจใใซๅฐๅ…ๆœŸใฎๅงฟๅ‹ขใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใฏ่‘—ๆ˜Žใชๆ—ฅๅ†…ๅค‰ๅ‹•ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200885" ; + dcterms:source ; a owl:Class ; - rdfs:label "Segeawa syndrome"@en, "็€ฌๅท็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Segawa syndrome"@en, "ใ›ใŒใ‚ใณใ‚‡ใ†"@ja-Hira, "็€ฌๅท็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "DRD"@en, "Dopamine-responsive dystonia"@en, "HPD"@en, "Hereditary progressive dystonia with diurnal variation"@en ; - skos:closeMatch mondo:MONDO_0007495 ; + skos:closeMatch obo:MONDO_0016812 ; skos:prefLabel "็€ฌๅท็—…"@ja . -:2200886 - :hasNotificationNumber "75" ; - terms:description "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ2 ๏ผˆPANK2๏ผ‰ ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ๏ผˆNeurodegeneration with brain iron accumulation; NBIA๏ผ‰ใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200886" ; - terms:source ; + + nando:hasNotificationNumber "93" ; + dcterms:description "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ2 ๏ผˆPANK2๏ผ‰ ้บไผๅญๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณใฎ้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็–พๆ‚ฃ๏ผˆNeurodegeneration with brain iron accumulation; NBIA๏ผ‰ใฎไปฃ่กจ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200886" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pantothenate kinase-associated neurodegeneration"@en, "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Pantothenate kinase-associated neurodegeneration"@en, "ใฑใ‚“ใจใฆใ‚“ใ•ใ‚“ใใชใƒผใœใ‹ใ‚“ใ‚Œใ‚“ใ—ใ‚“ใ‘ใ„ใธใ‚“ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "PKAN"@en ; - skos:closeMatch mondo:MONDO_0009319 ; + skos:closeMatch obo:MONDO_0009319 ; skos:prefLabel "ใƒ‘ใƒณใƒˆใƒ†ใƒณ้…ธใ‚ญใƒŠใƒผใ‚ผ้–ข้€ฃ็ฅž็ตŒๅค‰ๆ€ง็—‡"@ja . -:2200887 - :hasNotificationNumber "74" ; - terms:description "็ฌฌ22็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚‹Phospholipase A2, group VI (PLA2G6) ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณๅ†…้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡ (neurodegeneration with brain iron accumulation; NBIA)ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200887" ; - terms:source ; + + nando:hasNotificationNumber "92" ; + dcterms:description "็ฌฌ22็•ชๆŸ“่‰ฒไฝ“้•ท่…•ไธŠใซใ‚ใ‚‹Phospholipase A2, group VI (PLA2G6) ้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใ€‚่„ณๅ†…้‰„ๆฒˆ็€ใ‚’ไผดใ†็ฅž็ตŒๅค‰ๆ€ง็—‡ (neurodegeneration with brain iron accumulation; NBIA)ใฎไธ€ใคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200887" ; + dcterms:source ; a owl:Class ; - rdfs:label "infantile neuroaxonal dystrophy"@en, "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Infantile neuroaxonal dystrophy"@en, "ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใ˜ใใ•ใใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "INAD"@en ; - skos:closeMatch mondo:MONDO_0009739, mondo:MONDO_0024457 ; + skos:closeMatch obo:MONDO_0009739 ; skos:prefLabel "ไนณๅ…็ฅž็ตŒ่ปธ็ดขใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . -:2200888 - :hasNotificationNumber "64" ; - terms:description "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ€้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ไธปใจใ™ใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’็”Ÿใ˜ใ€ไธกๅด็ทšๆกไฝ“ใฎๅค‰ๆ€งใƒปๅฃŠๆญปใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ใ‚ฆใ‚คใƒซใ‚นใ‚„ใƒžใ‚คใ‚ณใƒ—ใƒฉใ‚บใƒžใฎๆ„ŸๆŸ“ใซไผดใ„ๆ€ฅๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใจใ€้บไผๆ€ง็–พๆ‚ฃใซๅŸบใฅใไบœๆ€ฅๆ€งใชใ„ใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใŒใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏๅฐๅ…ๆ…ขๆ€ง็–พๆ‚ฃใฎๅฏพ่ฑกใจใชใ‚‹ๅพŒ่€…ใซใคใ„ใฆ่ฟฐในใ‚‹ใ€‚"@ja ; - terms:identifier "2200888" ; - terms:source ; + + nando:hasNotificationNumber "79" ; + dcterms:description "ไนณๅนผๅ…ๆœŸใซ็™บ็—‡ใ€้Œไฝ“ๅค–่ทฏ็—‡็Šถใ‚’ไธปใจใ™ใ‚‹็ฅž็ตŒ็—‡็Šถใ‚’็”Ÿใ˜ใ€ไธกๅด็ทšๆกไฝ“ใฎๅค‰ๆ€งใƒปๅฃŠๆญปใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃ็พคใ€‚ใ‚ฆใ‚คใƒซใ‚นใ‚„ใƒžใ‚คใ‚ณใƒ—ใƒฉใ‚บใƒžใฎๆ„ŸๆŸ“ใซไผดใ„ๆ€ฅๆ€งใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใจใ€้บไผๆ€ง็–พๆ‚ฃใซๅŸบใฅใไบœๆ€ฅๆ€งใชใ„ใ—ๆ…ขๆ€งใซ้€ฒ่กŒใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใŒใ‚ใ‚‹ใ€‚ใ“ใ“ใงใฏๅฐๅ…ๆ…ขๆ€ง็–พๆ‚ฃใฎๅฏพ่ฑกใจใชใ‚‹ๅพŒ่€…ใซใคใ„ใฆ่ฟฐในใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200888" ; + dcterms:source ; a owl:Class ; - rdfs:label "infantile bilateral striatal necrosis"@en, "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Infantile bilateral striatal necrosis"@en, "ใซใ‚…ใ†ใ˜ใ‚Šใ‚‡ใ†ใใใ›ใ‚“ใ˜ใ‚‡ใ†ใŸใ„ใˆใ—"@ja-Hira, "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "IBSN"@en ; - skos:closeMatch mondo:MONDO_0010080, mondo:MONDO_0015518 ; + skos:closeMatch obo:MONDO_0015518 ; skos:prefLabel "ไนณๅ…ไธกๅด็ทšๆกไฝ“ๅฃŠๆญป"@ja . -:2200889 - :hasNotificationNumber "44" ; - terms:description "ๆ–ฐ็”Ÿๅ…ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผˆherpes simplex virus๏ผšHSV๏ผ‰ๆ„ŸๆŸ“็—‡ใฏใ€ๅˆ†ๅจฉๅ‰ๅพŒใฎHSVใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใ€‚ๆฐด็–ฑใชใฉใฎ็šฎ่†š็—…ๅค‰ใ€็œผ็ƒใƒปๅฃ่…”็ฒ˜่†œ็—…ๅค‰ใซๅŠ ใˆใฆใ€็—…ๅž‹ใซใ‚ˆใฃใฆใฏ่„ณ็‚Žใ€่‚้šœๅฎณใชใฉใฎ่‡“ๅ™จ็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใ‚ฆใ‚คใƒซใ‚นๅŸน้คŠใ€HSV้บไผๅญๅŒๅฎšใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚้ซ˜็”จ้‡ใฎใ‚ขใ‚ทใ‚ฏใƒญใƒ“ใƒซ้™ๆณจ็™‚ๆณ•ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่‡ดๆญป็Ž‡ใ€็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡็Ž‡ใจใ‚‚้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200889" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:description "ๆ–ฐ็”Ÿๅ…ๅ˜็ด”ใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚น๏ผˆherpes simplex virus๏ผšHSV๏ผ‰ๆ„ŸๆŸ“็—‡ใฏใ€ๅˆ†ๅจฉๅ‰ๅพŒใฎHSVใซใ‚ˆใ‚‹ๆ„ŸๆŸ“็—‡ใ€‚ๆฐด็–ฑใชใฉใฎ็šฎ่†š็—…ๅค‰ใ€็œผ็ƒใƒปๅฃ่…”็ฒ˜่†œ็—…ๅค‰ใซๅŠ ใˆใฆใ€็—…ๅž‹ใซใ‚ˆใฃใฆใฏ่„ณ็‚Žใ€่‚้šœๅฎณใชใฉใฎ่‡“ๅ™จ็—…ๅค‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ€‚ใ‚ฆใ‚คใƒซใ‚นๅŸน้คŠใ€HSV้บไผๅญๅŒๅฎšใซใ‚ˆใ‚Š่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚้ซ˜็”จ้‡ใฎใ‚ขใ‚ทใ‚ฏใƒญใƒ“ใƒซ้™ๆณจ็™‚ๆณ•ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€่‡ดๆญป็Ž‡ใ€็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡็Ž‡ใจใ‚‚้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200889" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital herpes simplex virus infection"@en, "ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017381 ; + rdfs:label "Congenital herpes simplex virus infection"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใธใ‚‹ใบใ™ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017381 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒ˜ใƒซใƒšใ‚นใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja . -:2200890 - :hasNotificationNumber "43" ; - terms:description "้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ—ๅ…็–ซใฎใชใ„ๅฅณๆ€งใŒๅฆŠๅจ ๅˆๆœŸใซ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๆ„ŸๆŸ“ใ—ใ€ใ‚ฆใ‚คใƒซใ‚นใŒ่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‡บ็”Ÿๅ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃ่ดใ€็™ฝๅ†…้šœใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใ‚’็ท็งฐใ—ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค๏ผˆcongenital rubella syndrome๏ผšCRS๏ผ‰ใจๅ‘ผใถใ€‚่‚่„พ็จฎใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็™บ่‚ฒ้šœๅฎณใชใฉใ‚‚็”Ÿใ˜ใ‚‹ใ€‚้ขจ็–นใฎๆต่กŒๆœŸใŒๆ˜ฅใ‹ใ‚‰ๅˆๅคใงใ‚ใ‚‹ใŸใ‚ใ€CRSๅ…ใฏ็ง‹ใ‹ใ‚‰ๅ†ฌใซ็”Ÿใพใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ„ŸๆŸ“็—‡ๆณ•๏ผˆ2012ๅนดๆ›ดๆ–ฐ๏ผ‰ใงใฏใ€CRSใฏๅ…จๆ•ฐๅ ฑๅ‘Šๅฏพ่ฑก๏ผˆ5้กžๆ„ŸๆŸ“็—‡๏ผ‰ใงใ‚ใ‚Šใ€ๅŒปๅธซใฏ่จบๆ–ญๅพŒ7ๆ—ฅไปฅๅ†…ใซไฟๅฅๆ‰€ใซๅฑŠใ‘ๅ‡บใชใ‘ใ‚Œใฐใชใ‚‰ใชใ„ใ€‚"@ja ; - terms:identifier "2200890" ; - terms:source ; + + nando:hasNotificationNumber "43" ; + dcterms:description "้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๅฏพใ—ๅ…็–ซใฎใชใ„ๅฅณๆ€งใŒๅฆŠๅจ ๅˆๆœŸใซ้ขจ็–นใ‚ฆใ‚คใƒซใ‚นใซๆ„ŸๆŸ“ใ—ใ€ใ‚ฆใ‚คใƒซใ‚นใŒ่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ‡บ็”Ÿๅ…ใซๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€้›ฃ่ดใ€็™ฝๅ†…้šœใชใฉใŒ็”Ÿใ˜ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ใ‚’็ท็งฐใ—ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค๏ผˆcongenital rubella syndrome๏ผšCRS๏ผ‰ใจๅ‘ผใถใ€‚่‚่„พ็จฎใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€็™บ่‚ฒ้šœๅฎณใชใฉใ‚‚็”Ÿใ˜ใ‚‹ใ€‚้ขจ็–นใฎๆต่กŒๆœŸใŒๆ˜ฅใ‹ใ‚‰ๅˆๅคใงใ‚ใ‚‹ใŸใ‚ใ€CRSๅ…ใฏ็ง‹ใ‹ใ‚‰ๅ†ฌใซ็”Ÿใพใ‚Œใ‚‹ใ“ใจใŒๅคšใ„ใ€‚ๆ„ŸๆŸ“็—‡ๆณ•๏ผˆ2012ๅนดๆ›ดๆ–ฐ๏ผ‰ใงใฏใ€CRSใฏๅ…จๆ•ฐๅ ฑๅ‘Šๅฏพ่ฑก๏ผˆ5้กžๆ„ŸๆŸ“็—‡๏ผ‰ใงใ‚ใ‚Šใ€ๅŒปๅธซใฏ่จบๆ–ญๅพŒ7ๆ—ฅไปฅๅ†…ใซไฟๅฅๆ‰€ใซๅฑŠใ‘ๅ‡บใชใ‘ใ‚Œใฐใชใ‚‰ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200890" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital rubella syndrome"@en, "ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005713, mondo:MONDO_0017361 ; + rdfs:label "Congenital rubella syndrome"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใตใ†ใ—ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005713, obo:MONDO_0017361 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ขจ็–น็—‡ๅ€™็พค"@ja . -:2200891 - :hasNotificationNumber "41" ; - terms:description "ๅคšใใฏๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใŒๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŠนๆžœ็š„ใชๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใŠใ‚‰ใšใ€ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ้›ฃ่ดใ‚„็™บ้”้šœๅฎณใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200891" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "ๅคšใใฏๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใŒๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅŠนๆžœ็š„ใชๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใŠใ‚‰ใšใ€ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ้›ฃ่ดใ‚„็™บ้”้šœๅฎณใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200891" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital cytomegalovirus infection"@en, "ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Congenital cytomegalovirus infection"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใจใ‚ใŒใ‚ใ†ใ„ใ‚‹ใ™ใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017409 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ตใ‚คใƒˆใƒกใ‚ฌใƒญใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡"@ja . -:2200892 - :hasNotificationNumber "42" ; - terms:description "ๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ™ใงใซๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ€ ้ซ˜ใ„ๅŠนๆžœใ‚’ๆŒใกๅฎ‰ๅ…จใซๆŠ•ไธŽใงใใ‚‹่–ฌ็‰ฉๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ่ฆ–ๅŠ›้šœๅฎณใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200892" ; - terms:source ; + + nando:hasNotificationNumber "42" ; + dcterms:description "ๅฆŠๅจ ไธญใฎๅฆŠๅฉฆใŒใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžใซใ‚ˆใ‚‹ๅˆๆ„ŸๆŸ“ใ‚’ใŠใ“ใ—ใ€่ƒŽๅ…ใซๆ„ŸๆŸ“ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ใ€‚ ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Šไฝ•ใ‚‰ใ‹ใฎ็•ฐๅธธใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใ‚„ใ€็„ก็—‡็Šถใฎๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใ™ใงใซๆ„ŸๆŸ“ใ—ใฆใ„ใ‚‹ๅ ดๅˆใ€ ้ซ˜ใ„ๅŠนๆžœใ‚’ๆŒใกๅฎ‰ๅ…จใซๆŠ•ไธŽใงใใ‚‹่–ฌ็‰ฉๆฒป็™‚ๆณ•ใฏ็พๆ™‚็‚นใงใฏ็ขบ็ซ‹ใ—ใฆใ„ใชใ„ใ€‚ ๅ‡บ็”Ÿๆ™‚ใฎ็—‡็Šถใฎๆœ‰็„กใซ้–ขใ‚ใ‚‰ใšใใฎๅพŒ่ฆ–ๅŠ›้šœๅฎณใ‚„็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใชใฉ้…็™บๆ€ง้šœๅฎณใ‚’ๅˆไฝตใ™ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200892" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital toxoplasmosis"@en, "ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005715 ; + rdfs:label "Congenital toxoplasmosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใจใใใทใ‚‰ใšใพใ‹ใ‚“ใ›ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005715 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใƒˆใ‚ญใ‚ฝใƒ—ใƒฉใ‚บใƒžๆ„ŸๆŸ“็—‡"@ja . -:2200893 - :hasNotificationNumber "7" ; - terms:description "Aicardi-Goutiรจres็—‡ๅ€™็พค๏ผˆAGS๏ผ‰ใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๅนผๅฐ‘ๆœŸใฎๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„็•ฐๅธธใ€่‚่„พ่…ซใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใ„ใฃใŸๅ…ˆๅคฉๆ„ŸๆŸ“็—‡๏ผˆTORCH็—‡ๅ€™็พค๏ผ‰้กžไผผใฎ็—…ๅƒใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๅคšใใฎๆ‚ฃ่€…ใงใฏๆญฃๅธธ็™บ้”ใฎๆœŸ้–“ใฎๅพŒใซ้ก•ๅœจๅŒ–ใ™ใ‚‹ใชใฉใ€ใใฎ็™บ็—‡ๆ™‚ๆœŸใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๆ˜“ๅˆบๆฟ€ๆ€งใ€้–“ๆฌ ็š„ใช็„ก่Œๆ€ง็™บ็†ฑใ€้ ญไฝๆˆ้•ทใฎไฝŽไธ‹ใ€็™บ้”้€€่กŒใชใฉใซ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€ไบœๆ€ฅๆ€ง็™บ็—‡ใฎ้‡็—‡่„ณ็—‡ใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚็ด„4ๅ‰ฒใฎๆ‚ฃ่€…ใงๆ‰‹ๆŒ‡ใ€่ถณ่ถพใ€่€ณใชใฉใซๅ‡็˜กๆง˜ใฎ็šฎ่†š็—…ๅค‰ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใงใฏใ‚ˆใ‚Š่ปฝ็—‡ใช้žๅ…ธๅž‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚็–พๆ‚ฃ่ƒŒๆ™ฏใจใ—ใฆ่‡ชๅทฑๅ…็–ซๆ€งๆฉŸๅบใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๆฌก็ฌฌใซAGS้–ข้€ฃ้บไผๅญ็พคใฎ็•ฐๅธธใฏ่‡จๅบŠ็š„ใซๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ้šœๅฎณใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200893" ; - terms:source ; - a owl:Class ; - rdfs:label "Aicardi-Goutieres syndrome"@en, "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "AGS1"@en, "Aicardi-Goutieres็—‡ๅ€™็พค"@ja, "Aicardi-Goutiรจres syndrome"@en, "TREX1ๆฌ ๆ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0009165, mondo:MONDO_0018866 ; + + nando:hasNotificationNumber "7" ; + dcterms:description "Aicardi-Goutiรจres็—‡ๅ€™็พค๏ผˆAGS๏ผ‰ใฏ้‡ๅบฆๅฟƒ่บซ้šœๅฎณใ‚’ใใŸใ™ๆ—ฉๆœŸ็™บ็—‡ๅž‹ใฎ่„ณ็—‡ใงใ€้ ญ่“‹ๅ†…็Ÿณ็ฐๅŒ–็—…ๅค‰ใจๅนผๅฐ‘ๆœŸใฎๆ…ขๆ€ง็š„ใช้ซ„ๆถฒ็ดฐ่ƒžๆ•ฐใƒป้ซ„ๆถฒใ‚คใƒณใ‚ฟใƒผใƒ•ใ‚งใƒญใƒณ-ฮฑใƒป้ซ„ๆถฒใƒใ‚ชใƒ—ใƒ†ใƒชใƒณใฎๅข—ๅŠ ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็ฅž็ตŒๅญฆ็š„็•ฐๅธธใ€่‚่„พ่…ซใ€่‚้€ธ่„ฑ้…ต็ด ใฎไธŠๆ˜‡ใ€่ก€ๅฐๆฟๆธ›ๅฐ‘ใจใ„ใฃใŸๅ…ˆๅคฉๆ„ŸๆŸ“็—‡๏ผˆTORCH็—‡ๅ€™็พค๏ผ‰้กžไผผใฎ็—…ๅƒใ‚’็คบใ™ใ“ใจใ‚‚ใ‚ใ‚‹ใŒใ€ๅคšใใฎๆ‚ฃ่€…ใงใฏๆญฃๅธธ็™บ้”ใฎๆœŸ้–“ใฎๅพŒใซ้ก•ๅœจๅŒ–ใ™ใ‚‹ใชใฉใ€ใใฎ็™บ็—‡ๆ™‚ๆœŸใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่‡จๅบŠ็—‡็Šถใฏๆ˜“ๅˆบๆฟ€ๆ€งใ€้–“ๆฌ ็š„ใช็„ก่Œๆ€ง็™บ็†ฑใ€้ ญไฝๆˆ้•ทใฎไฝŽไธ‹ใ€็™บ้”้€€่กŒใชใฉใซ็‰นๅพดใฅใ‘ใ‚‰ใ‚Œใ‚‹ใ€ไบœๆ€ฅๆ€ง็™บ็—‡ใฎ้‡็—‡่„ณ็—‡ใฎ็ตŒ้Žใ‚’ใจใ‚‹ใ€‚็ด„4ๅ‰ฒใฎๆ‚ฃ่€…ใงๆ‰‹ๆŒ‡ใ€่ถณ่ถพใ€่€ณใชใฉใซๅ‡็˜กๆง˜ใฎ็šฎ่†š็—…ๅค‰ใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดใงใฏใ‚ˆใ‚Š่ปฝ็—‡ใช้žๅ…ธๅž‹ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚็–พๆ‚ฃ่ƒŒๆ™ฏใจใ—ใฆ่‡ชๅทฑๅ…็–ซๆ€งๆฉŸๅบใŒ่€ƒใˆใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๆฌก็ฌฌใซAGS้–ข้€ฃ้บไผๅญ็พคใฎ็•ฐๅธธใฏ่‡จๅบŠ็š„ใซๅน…ๅบƒใ„ใ‚นใƒšใ‚ฏใƒˆใƒฉใƒ ้šœๅฎณใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200893" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aicardi-Goutiรจres Syndrome"@en, "ใˆใ‹ใ‚‹ใงใƒใƒปใใฆใƒใˆใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AGS"@en, "Aicardi-Goutieres็—‡ๅ€™็พค"@ja, "Aicardi-Goutiรจres็—‡ๅ€™็พค"@ja, "TREX1ๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0018866 ; skos:prefLabel "ใ‚จใ‚ซใƒซใƒ‡ใ‚ฃใƒปใ‚ฐใƒ†ใ‚ฃใ‚จใƒผใƒซ็—‡ๅ€™็พค"@ja . -:2200894 - :hasNotificationNumber "7" ; - terms:identifier "2200894" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200894" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aicardi-Goutieres syndrome 2"@en, "RNASEH2Bๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "AGS2"@en, "Aicardi-Goutiรจres syndrome 2"@en ; - skos:closeMatch mondo:MONDO_0012429 ; + rdfs:label "Aicardi-Goutieres syndrome 2"@en, "RNASEH2Bๆฌ ๆ็—‡"@ja, "ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AGS2"@en, "AGS2"@ja, "Aicardi-Goutiรจres syndrome 2"@en ; + skos:closeMatch obo:MONDO_0012429 ; skos:prefLabel "RNASEH2Bๆฌ ๆ็—‡"@ja . -:2200895 - :hasNotificationNumber "7" ; - terms:identifier "2200895" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200895" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aicardi-Goutieres syndrome 3"@en, "RNASEH2Cๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Aicardi-Goutieres syndrome 3"@en, "RNASEH2Cๆฌ ๆ็—‡"@ja, "ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใ—ใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AGS3"@en, "Aicardi-Goutiรจres syndrome 3"@en ; - skos:closeMatch mondo:MONDO_0012471 ; + skos:closeMatch obo:MONDO_0012471 ; skos:prefLabel "RNASEH2Cๆฌ ๆ็—‡"@ja . -:2200896 - :hasNotificationNumber "7" ; - terms:identifier "2200896" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200896" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aicardi-Goutieres syndrome 4a"@en, "RNASEH2Aๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Aicardi-Goutieres syndrome 4a"@en, "RNASEH2Aๆฌ ๆ็—‡"@ja, "ใ‚ใƒผใ‚‹ใˆใฌใˆใƒผใˆใ™ใ„ใƒผใˆใ„ใก2ใˆใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AGS4a"@en, "Aicardi-Goutiรจres syndrome 4a"@en ; skos:prefLabel "RNASEH2Aๆฌ ๆ็—‡"@ja . -:2200897 - :hasNotificationNumber "7" ; - terms:identifier "2200897" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200897" ; + dcterms:source ; a owl:Class ; - rdfs:label "Aicardi-Goutieres syndrome 5"@en, "SAMHD1ๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Aicardi-Goutieres syndrome 5"@en, "SAMHD1ๆฌ ๆ็—‡"@ja, "ใˆใ™ใˆใƒผใˆใ‚€ใˆใ„ใกใงใƒใƒผ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AGS5"@en, "Aicardi-Goutiรจres syndrome 5"@en ; - skos:closeMatch mondo:MONDO_0013059 ; + skos:closeMatch obo:MONDO_0013059 ; skos:prefLabel "SAMHD1ๆฌ ๆ็—‡"@ja . -:2200898 - :hasNotificationNumber "7" ; - terms:identifier "2200898" ; - terms:source ; + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2200898" ; + dcterms:source ; a owl:Class ; - rdfs:label "ADAR1ๆฌ ๆ็—‡"@ja, "Aicardi-Goutieres syndrome 6"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "ADAR1ๆฌ ๆ็—‡"@ja, "Aicardi-Goutieres syndrome 6"@en, "ใˆใƒผใงใƒใƒผใˆใƒผใ‚ใƒผใ‚‹1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AGS6"@en, "Aicardi-Goutiรจres syndrome6"@en ; - skos:closeMatch mondo:MONDO_0014007 ; + skos:closeMatch obo:MONDO_0014007 ; skos:prefLabel "ADAR1ๆฌ ๆ็—‡"@ja . -:2200899 - :hasNotificationNumber "1" ; - terms:description "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitisใ€€SSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใธใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ไบบใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡(progressive multifocal leukoencephalopathy PML)ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200899" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž๏ผˆsubacute sclerosing panencephalitisใ€€SSPE๏ผ‰ใฏๅค‰็•ฐ้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไธญๆžข็ฅž็ตŒ็ณปใธใฎ้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใงใ‚ใ‚‹ใ€‚ใชใŠใ€้…็™บๆ€งใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“ใจใฏใ€้€šๅธธใฎใ‚ฆใ‚คใƒซใ‚นๆ„ŸๆŸ“็—‡ใฎๆ„ŸๆŸ“ๆง˜ๅผใจใฏ็•ฐใชใ‚Šใ€ใ‚ฆใ‚คใƒซใ‚นใซ็ฝนๆ‚ฃๅพŒๆ•ฐๅนดใฎ้•ทใ„ๆฝœไผๆœŸ้–“ใ‚’ใ‚‚ใฃใฆ็™บ็—‡ใ—ใ€็‰นๅฎšใฎ่‡“ๅ™จใซ้™ๅฎšใ—ใ€ไบœๆ€ฅๆ€งใฎ้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹็‰น็•ฐใชๆ„ŸๆŸ“็—‡ใงใ‚ใ‚‹ใ€‚ไบบใงใฏใ€้บป็–นใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚ŽใจJCใ‚ฆใ‚คใƒซใ‚นใซใ‚ˆใ‚‹้€ฒ่กŒๆ€งๅคšๅทฃๆ€ง็™ฝ่ณช่„ณ็—‡(progressive multifocal leukoencephalopathy PML)ใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200899" ; + dcterms:source ; a owl:Class ; - rdfs:label "subacute sclerosing panencephalitis"@en, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Subacute sclerosing panencephalitis"@en, "ใ‚ใใ‚…ใ†ใ›ใ„ใ“ใ†ใ‹ใ›ใ„ใœใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "SSPE"@en ; - skos:closeMatch mondo:MONDO_0009835 ; + skos:closeMatch obo:MONDO_0009835 ; skos:prefLabel "ไบœๆ€ฅๆ€ง็กฌๅŒ–ๆ€งๅ…จ่„ณ็‚Ž"@ja . -:2200900 - :hasNotificationNumber "80" ; - terms:description "Rasmussen๏ผˆใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผ‰็—‡ๅ€™็พคใฏใ€1958ๅนดใซRasmussenใ‚‰ใŒๆ…ขๆ€ง้™ๅฑ€ๆ€ง่„ณ็‚Žใฎ็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹้›ฃๆฒปๆ€ง็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“ใฎ2็—‡ไพ‹ใ‚’ๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ“ใจใซๅง‹ใพใ‚Šใ€ใใฎๅพŒใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“๏ผˆepilepsia partialis continua: EPC๏ผ‰ใ‚’ๅซใ‚€ไธ€ๅดๆ€งใฎ็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“็™บไฝœใ€็‰‡้บป็—บใชใฉใฎ้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช้šœๅฎณใ€้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช่Ž็ธฎใ€ๆ…ขๆ€ง่„ณ็‚Žๅƒใชใฉใ‚’่ชใ‚ใ‚‹็—‡ไพ‹็พคใจใ—ใฆ็ขบ็ซ‹ใ—ใŸใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃ็›Ÿใซใ‚ˆใ‚‹ใ€1989ๅนดๅˆ†้กžใงใฏใ€Œๅฐๅ…ใฎๆ…ขๆ€ง้€ฒ่กŒๆ€งๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ€ใจใ•ใ‚Œใฆใ„ใŸใŒใ€2010ๅนดๆ–ฐๅˆ†้กžๆกˆใงใฏใ€ŒRasmussen็—‡ๅ€™็พคใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200900" ; - terms:source ; - a owl:Class ; - rdfs:label "Rasmussen encephalitis"@en, "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Rasmussen่„ณ็‚Ž"@ja ; - skos:closeMatch mondo:MONDO_0016019 ; + + nando:hasNotificationNumber "99" ; + dcterms:description "Rasmussen๏ผˆใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ๏ผ‰็—‡ๅ€™็พคใฏใ€1958ๅนดใซRasmussenใ‚‰ใŒๆ…ขๆ€ง้™ๅฑ€ๆ€ง่„ณ็‚Žใฎ็—…็†ๅƒใ‚’ๅ‘ˆใ™ใ‚‹้›ฃๆฒปๆ€ง็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“ใฎ2็—‡ไพ‹ใ‚’ๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ“ใจใซๅง‹ใพใ‚Šใ€ใใฎๅพŒใ€ไธปใซๅฐๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“๏ผˆepilepsia partialis continua: EPC๏ผ‰ใ‚’ๅซใ‚€ไธ€ๅดๆ€งใฎ็„ฆ็‚นๆ€งใฆใ‚“ใ‹ใ‚“็™บไฝœใ€็‰‡้บป็—บใชใฉใฎ้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช้šœๅฎณใ€้€ฒ่กŒๆ€งๅคง่„ณ็šฎ่ณช่Ž็ธฎใ€ๆ…ขๆ€ง่„ณ็‚Žๅƒใชใฉใ‚’่ชใ‚ใ‚‹็—‡ไพ‹็พคใจใ—ใฆ็ขบ็ซ‹ใ—ใŸใ€‚ๅ›ฝ้š›ๆŠ—ใฆใ‚“ใ‹ใ‚“้€ฃ็›Ÿใซใ‚ˆใ‚‹ใ€1989ๅนดๅˆ†้กžใงใฏใ€Œๅฐๅ…ใฎๆ…ขๆ€ง้€ฒ่กŒๆ€งๆŒ็ถšๆ€ง้ƒจๅˆ†ใฆใ‚“ใ‹ใ‚“ใ€ใจใ•ใ‚Œใฆใ„ใŸใŒใ€2010ๅนดๆ–ฐๅˆ†้กžๆกˆใงใฏใ€ŒRasmussen็—‡ๅ€™็พคใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200900" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Rasmussen's encephalitis"@en, "ใ‚‰ใ™ใ‚€ใฃใ›ใ‚“ใฎใ†ใˆใ‚“"@ja-Hira, "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Rasmussen encephalitis"@en, "Rasmussen่„ณ็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0016019 ; skos:prefLabel "ใƒฉใ‚นใƒ ใƒƒใ‚ปใƒณ่„ณ็‚Ž"@ja . -:2200901 - :hasNotificationNumber "18" ; - terms:description "็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใฏใ€ๆ—ฅๆœฌใง1990ๅนดไปฃๅพŒๅŠใ‹ใ‚‰่ช่ญ˜ใ•ใ‚Œๅง‹ใ‚ใŸๆ–ฐใ—ใ„็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡(AEFSCE)ใ€๏ผˆๅกฉ่ฆ‹, 2000ๅนด๏ผ‰ใ€ใ€Œไธกๅดๅ‰้ ญ่‘‰ใ‚’ไธปใจใ—ใฆ้šœๅฎณใ™ใ‚‹ไนณๅนผๅ…ๆ€ฅๆ€ง่„ณ็—‡(AIEF)ใ€๏ผˆYamanouchiใ‚‰, 2006๏ผ‰ใ€ใ€ŒไบŒ็›ธๆ€งใ‘ใ„ใ‚Œใ‚“ใจ้…็™บๆ€งๆ‹กๆ•ฃไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใ€๏ผˆTakanashiใ‚‰, 2006๏ผ‰ใชใฉ่ค‡ๆ•ฐใฎ็•ฐใชใ‚‹็—…ๅใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€2015ๅนดใซใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใ€ใจใ—ใฆๆŒ‡ๅฎš้›ฃ็—…ใซ่ชๅฎšใ•ใ‚ŒใŸใ€‚็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซใ€็—™ๆ”ฃใจ่„ณใฎๅ‚ทๅฎณใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ€ๅฐๅ…ใฎๆ€ฅๆ€ง่„ณ็—‡ใฎใ†ใกๆ—ฅๆœฌใงใฏๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅž‹ใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸ๏ผˆ็™บ็—‡๏ฝž็—™ๆ”ฃๅๅพฉๆœŸ๏ผ‰ใ‹ใ‚‰ไบœๆ€ฅๆ€งๆœŸ๏ผˆๅ›žๅพฉๆœŸ๏ผ‰ใซใ‹ใ‘ใฆใ€ไบŒ็›ธๆ€งใฎ่‡จๅบŠ็ตŒ้Ž๏ผˆๅˆ็™บๆ™‚ใฎๆœ‰็†ฑๆ™‚็—™ๆ”ฃ้‡็ฉใจ็ฌฌ๏ผ“๏ฝž๏ผ–็—…ๆ—ฅใฎ็„ฆ็‚น็™บไฝœ็พค็™บ๏ผ‰ใŠใ‚ˆใณ้ ญ้ƒจMRIๆ‹กๆ•ฃๅผท่ชฟ็”ปๅƒ๏ผˆ็ฌฌ๏ผ“๏ฝž๏ผ™็—…ๆ—ฅใฎๅคง่„ณ็šฎ่ณชไธ‹็™ฝ่ณชใฎๆ‹กๆ•ฃไฝŽไธ‹๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใซๅ…ฅใ‚‹ใจๅคšใใฎๆ‚ฃ่€…ใซใฆใ‚“ใ‹ใ‚“ใ€็Ÿฅ็š„้šœๅฎณใชใฉ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใŒๆฎ‹ใ‚Šใ€้‡็—‡ๆ‚ฃ่€…ใงใฏ็”Ÿๆถฏใซใ‚ใŸใ‚Š็ถšใใ€‚็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใฏๅฐๅ…ใฎๅพŒๅคฉ็š„่„ณ้šœๅฎณใฎไธป่ฆใชๅŽŸๅ› ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200901" ; - terms:source ; - a owl:Class ; - rdfs:label "Acute encephalopathy with biphasic seizures and late reduced diffusion"@en, "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "AESD"@en, "ไบŒ็›ธๆ€งๆ€ฅๆ€ง่„ณ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0018198 ; + + nando:hasNotificationNumber "18" ; + dcterms:description "็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใฏใ€ๆ—ฅๆœฌใง1990ๅนดไปฃๅพŒๅŠใ‹ใ‚‰่ช่ญ˜ใ•ใ‚Œๅง‹ใ‚ใŸๆ–ฐใ—ใ„็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡(AEFSCE)ใ€๏ผˆๅกฉ่ฆ‹, 2000ๅนด๏ผ‰ใ€ใ€Œไธกๅดๅ‰้ ญ่‘‰ใ‚’ไธปใจใ—ใฆ้šœๅฎณใ™ใ‚‹ไนณๅนผๅ…ๆ€ฅๆ€ง่„ณ็—‡(AIEF)ใ€๏ผˆYamanouchiใ‚‰, 2006๏ผ‰ใ€ใ€ŒไบŒ็›ธๆ€งใ‘ใ„ใ‚Œใ‚“ใจ้…็™บๆ€งๆ‹กๆ•ฃไฝŽไธ‹ใ‚’ๅ‘ˆใ™ใ‚‹ๆ€ฅๆ€ง่„ณ็—‡(AESD)ใ€๏ผˆTakanashiใ‚‰, 2006๏ผ‰ใชใฉ่ค‡ๆ•ฐใฎ็•ฐใชใ‚‹็—…ๅใงๅ ฑๅ‘Šใ•ใ‚ŒใŸใŒใ€2015ๅนดใซใ€Œ็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใ€ใจใ—ใฆๆŒ‡ๅฎš้›ฃ็—…ใซ่ชๅฎšใ•ใ‚ŒใŸใ€‚็ช็™บๆ€ง็™บ็–นใ‚„ใ‚คใƒณใƒ•ใƒซใ‚จใƒณใ‚ถใชใฉใฎๆ„ŸๆŸ“็—‡ใ‚’ๅฅ‘ๆฉŸใซใ€็—™ๆ”ฃใจ่„ณใฎๅ‚ทๅฎณใ‚’็”Ÿใ˜ใ‚‹็—‡ๅ€™็พคใงใ€ๅฐๅ…ใฎๆ€ฅๆ€ง่„ณ็—‡ใฎใ†ใกๆ—ฅๆœฌใงใฏๆœ€ใ‚‚้ ปๅบฆใฎ้ซ˜ใ„ๅž‹ใงใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸ๏ผˆ็™บ็—‡๏ฝž็—™ๆ”ฃๅๅพฉๆœŸ๏ผ‰ใ‹ใ‚‰ไบœๆ€ฅๆ€งๆœŸ๏ผˆๅ›žๅพฉๆœŸ๏ผ‰ใซใ‹ใ‘ใฆใ€ไบŒ็›ธๆ€งใฎ่‡จๅบŠ็ตŒ้Ž๏ผˆๅˆ็™บๆ™‚ใฎๆœ‰็†ฑๆ™‚็—™ๆ”ฃ้‡็ฉใจ็ฌฌ๏ผ“๏ฝž๏ผ–็—…ๆ—ฅใฎ็„ฆ็‚น็™บไฝœ็พค็™บ๏ผ‰ใŠใ‚ˆใณ้ ญ้ƒจMRIๆ‹กๆ•ฃๅผท่ชฟ็”ปๅƒ๏ผˆ็ฌฌ๏ผ“๏ฝž๏ผ™็—…ๆ—ฅใฎๅคง่„ณ็šฎ่ณชไธ‹็™ฝ่ณชใฎๆ‹กๆ•ฃไฝŽไธ‹๏ผ‰ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ๆ…ขๆ€งๆœŸใซๅ…ฅใ‚‹ใจๅคšใใฎๆ‚ฃ่€…ใซใฆใ‚“ใ‹ใ‚“ใ€็Ÿฅ็š„้šœๅฎณใชใฉ็ฅž็ตŒๅญฆ็š„ๅพŒ้บ็—‡ใŒๆฎ‹ใ‚Šใ€้‡็—‡ๆ‚ฃ่€…ใงใฏ็”Ÿๆถฏใซใ‚ใŸใ‚Š็ถšใใ€‚็—™ๆ”ฃ้‡็ฉๅž‹(ไบŒ็›ธๆ€ง)ๆ€ฅๆ€ง่„ณ็—‡ใฏๅฐๅ…ใฎๅพŒๅคฉ็š„่„ณ้šœๅฎณใฎไธป่ฆใชๅŽŸๅ› ใฎใฒใจใคใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200901" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute encephalopathy with biphasic seizures and late reduced diffusion"@en, "ใ‘ใ„ใ‚Œใ‚“ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "AESD"@en, "็—™ๆ”ฃ้‡็ฉๅž‹๏ผˆไบŒ็›ธๆ€ง๏ผ‰ๆ€ฅๆ€ง่„ณ็—‡"@ja ; + skos:closeMatch obo:MONDO_0018198 ; skos:prefLabel "็—™ๆ”ฃ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็—‡"@ja . -:2200902 - :hasNotificationNumber "19" ; - terms:description "ๆ€ฅๆ€งใ‹ไบœๆ€ฅๆ€ง็™บ็—‡(้€šๅธธ3ใ‹ๆœˆไปฅๅ†…)ใฎ่จ˜้Š˜ๅŠ›้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ€ๅ‚พ็œ ใ€ไบบๆ ผๅค‰ๅŒ–ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๆ„่ญ˜้šœๅฎณ็ญ‰ใ‚’ๅ‘ˆใ—ใ€็—‡็Šถใฏๅค‰ๅ‹•ใ™ใ‚‹ใ€‚ๆ˜็กใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‚Ž็—‡ใŒ้ทๅปถใ—ใ€ๆ…ขๆ€งใซใฆใ‚“ใ‹ใ‚“็™บไฝœใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็ตŒ้Žไธญ็™บ็†ฑ็ญ‰ใฎๆ„ŸๆŸ“ๅพดๅ€™ใ‚’ไผดใ‚ใชใ„ๅ ดๅˆใ€่‡ชๅทฑๅ…็–ซๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ใ‚’็–‘ใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่‡ชๅพ‹็ฅž็ตŒ็—‡็Šถ(ๅพช็’ฐๅ™จ็—‡็Šถใ€ๅ‘ผๅธๅ™จ็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€็ซ‹ๆฏ›ใ€ๆ„Ÿ่ฆš็—‡็Šถ็ญ‰)ใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ๅฐ่„ณ็—‡็Šถใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸๆฒป็™‚ใŒๅฅๅŠŸใ—ไบˆๅพŒ่‰ฏๅฅฝใช็พคใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€งๆœŸใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใ‚‚่ช็ŸฅๆฉŸ่ƒฝใ€้‹ๅ‹•ๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’ๆฎ‹ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใจ่–ฌๅ‰คๆŠตๆŠ—ๆ€งใซใ‚ใ‚‹ใ„ใฏ้•ทๆœŸใซ็ตŒ้Žใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200902" ; - terms:source ; - a owl:Class ; - rdfs:label "Autoimmune encephalitis"@en, "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Autoimmune encephalopathy"@en, "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0020640 ; - skos:prefLabel "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Ž"@ja . - -:2200903 - :hasNotificationNumber "63" ; - terms:description "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž acute encephalitis with refractory, repetitive partial seizures (AERRPS) ใฏๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ้ƒจๅˆ†็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่„ณ็‚Žใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑ๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Šใ‘ใ„ใ‚Œใ‚“ใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใŸใ‚ใ€ๅŒปๅญฆ็š„ใฎใฟใชใ‚‰ใš็คพไผš็š„่ฆ‹ๅœฐใ‹ใ‚‰ใ‚‚้‡่ฆ–ใ™ในใ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200903" ; - terms:source ; - a owl:Class ; - rdfs:label "acute encephalitis with refractory, repetitive partial seizures"@en, "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ๆ€ฅๆ€งใ‹ไบœๆ€ฅๆ€ง็™บ็—‡(้€šๅธธ3ใ‹ๆœˆไปฅๅ†…)ใฎ่จ˜้Š˜ๅŠ›้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ€ๅ‚พ็œ ใ€ไบบๆ ผๅค‰ๅŒ–ใ€ใฆใ‚“ใ‹ใ‚“็™บไฝœใ€ๆ„่ญ˜้šœๅฎณ็ญ‰ใ‚’ๅ‘ˆใ—ใ€็—‡็Šถใฏๅค‰ๅ‹•ใ™ใ‚‹ใ€‚ๆ˜็กใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚็‚Ž็—‡ใŒ้ทๅปถใ—ใ€ๆ…ขๆ€งใซใฆใ‚“ใ‹ใ‚“็™บไฝœใ€่ช็ŸฅๆฉŸ่ƒฝ้šœๅฎณใ€็ฒพ็ฅž็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚็ตŒ้Žไธญ็™บ็†ฑ็ญ‰ใฎๆ„ŸๆŸ“ๅพดๅ€™ใ‚’ไผดใ‚ใชใ„ๅ ดๅˆใ€่‡ชๅทฑๅ…็–ซๆ€ง่„ณ็‚Žใƒป่„ณ็—‡ใ‚’็–‘ใ†ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚่‡ชๅพ‹็ฅž็ตŒ็—‡็Šถ(ๅพช็’ฐๅ™จ็—‡็Šถใ€ๅ‘ผๅธๅ™จ็—‡็Šถใ€่…น้ƒจ็—‡็Šถใ€็ซ‹ๆฏ›ใ€ๆ„Ÿ่ฆš็—‡็Šถ็ญ‰)ใ€ใ‚ธใ‚นใƒˆใƒ‹ใ‚ขใ€ๅฐ่„ณ็—‡็Šถใ€ใƒŸใ‚ชใƒˆใƒ‹ใ‚ขใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๆ€ฅๆ€งๆœŸๆฒป็™‚ใŒๅฅๅŠŸใ—ไบˆๅพŒ่‰ฏๅฅฝใช็พคใ‚‚ใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€งๆœŸใ‹ใ‚‰ใฎๅ›žๅพฉๅพŒใ‚‚่ช็ŸฅๆฉŸ่ƒฝใ€้‹ๅ‹•ๆฉŸ่ƒฝใฎ้šœๅฎณใ‚’ๆฎ‹ใ—ใ€ใฆใ‚“ใ‹ใ‚“ใ‚’็™บ็—‡ใ™ใ‚‹ใจ่–ฌๅ‰คๆŠตๆŠ—ๆ€งใซใ‚ใ‚‹ใ„ใฏ้•ทๆœŸใซ็ตŒ้Žใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200902" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autoimmune encephalitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ‹ใ„ใ–ใ„ใ›ใ„ใฎใ†ใˆใ‚“ใƒปใฎใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020640 ; + skos:prefLabel "่‡ชๅทฑๅ…็–ซไป‹ๅœจๆ€ง่„ณ็‚Žใƒป่„ณ็—‡"@ja . + + + nando:hasNotificationNumber "78" ; + dcterms:description "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž acute encephalitis with refractory, repetitive partial seizures (AERRPS) ใฏๆฅตใ‚ใฆ้›ฃๆฒปใ‹ใค้ ปๅ›žใฎ้ƒจๅˆ†็™บไฝœใ‚’็‰นๅพดใจใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่„ณ็‚Žใงใ‚ใ‚‹ใ€‚ๆˆ‘ใŒๅ›ฝใงๆœ€ๅˆใซ็ขบ็ซ‹ใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚Šใ€ๅพ“ๆฅใฏใ€Œ็‰น็•ฐใช่„ณ็‚Žใƒป่„ณ็—‡ๅพŒใฆใ‚“ใ‹ใ‚“ใฎไธ€็พค๏ผˆ็ฒŸๅฑ‹ใ€็ฆๅฑฑ๏ผ‰ใ€ใฎๅ็งฐใŒ็”จใ„ใ‚‰ใ‚ŒใฆใใŸใ€‚้•ทๆœŸ้–“ใซใ‚ใŸใ‚Šใ‘ใ„ใ‚Œใ‚“ใŒๆŒ็ถšใ—ใฆ้‡็ฏคใช็Šถๆ…‹ใŒๆŒ็ถšใ™ใ‚‹ใŸใ‚ไบบๅทฅๅ‘ผๅธ็ฎก็†ใ‚’ๅซใ‚ใŸ้›†ไธญๆฒป็™‚ใŒ้•ทๆœŸใซๅŠใณใ€ใพใŸ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใ‚‚ไธ่‰ฏใงใ‚ใ‚‹ใŸใ‚ใ€ๅŒปๅญฆ็š„ใฎใฟใชใ‚‰ใš็คพไผš็š„่ฆ‹ๅœฐใ‹ใ‚‰ใ‚‚้‡่ฆ–ใ™ในใ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200903" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute encephalitis with refractory, repetitive partial seizures"@en, "ใชใ‚“ใกใฒใ‚“ใ‹ใ„ใถใถใ‚“ใปใฃใ•ใ˜ใ‚…ใ†ใ›ใใŒใŸใใ‚…ใ†ใ›ใ„ใฎใ†ใˆใ‚“"@ja-Hira, "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "AERRPS"@en ; - skos:closeMatch mondo:MONDO_0015584 ; + skos:closeMatch obo:MONDO_0015584 ; skos:prefLabel "้›ฃๆฒป้ ปๅ›ž้ƒจๅˆ†็™บไฝœ้‡็ฉๅž‹ๆ€ฅๆ€ง่„ณ็‚Ž"@ja . -:2200904 - :hasNotificationNumber "59" ; - terms:description "ๅคš็™บๆ€ง็กฌๅŒ–็—‡multiple sclerosis๏ผˆ๏ผญ๏ผณ๏ผ‰ใฏไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ—ใ‹ใ—MRIใ‚’ๆ’ฎๅƒใ™ใ‚‹ใจใ€ๅฎŸ้š›ใซใฏ็—‡็Šถใ‚’ๅ‡บใ—ใŸ็—…ๅทฃใฎไฝ•ๅ€ใ‚‚ใฎๆ•ฐใฎ็‚Ž็—‡ๆ€ง่„ฑ้ซ„็—…ๅทฃใŒไธญๆžข็ฅž็ตŒ็ต„็น”ใซๅ‡บ็พใ—ใฆใ„ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎ็‚นใ‚’่ธใพใˆใฆๆ”น่จ‚ใ•ใ‚ŒใŸ2010ๅนด็‰ˆMcDonald่จบๆ–ญๅŸบๆบ–ใงใฏใ€MRIๆ‰€่ฆ‹ใŒ้‡่ฆ–ใ•ใ‚Œใ€ใ•ใ‚‰ใซ้€ ๅฝฑMRIใ‚’็”จใ„ใ‚‹ใ“ใจใง๏ผ‘ๅ›žใฎๆคœๆŸปใงใ‚‚่จบๆ–ญใŒๅฏ่ƒฝใชใปใฉใซ็ฐกไพฟใงๆœ‰็”จใชใ‚‚ใฎใจใชใฃใฆใ„ใ‚‹ใ€‚ใŸใ ใ—ใ€ๆœฌ่จบๆ–ญๅŸบๆบ–ใฏใ€่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใปใผ็ขบๅฎŸใช็—‡ไพ‹ใซใคใ„ใฆใ€ใชใ‚‹ในใๆ—ฉๆœŸใซMSใจใ—ใฆใฎ็ขบๅฎš่จบๆ–ญใ‚’่กŒใชใ†ใŸใ‚ใซไฝœๆˆใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใŸใ‚ใ€โ€จๅๅˆ†ใซไป–็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ไฝœๆฅญใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ“ใจใฏใ€ๅพ“ๆฅใจๅค‰ใ‚ใ‚ŠใŒใชใ„ใ€‚ใจใ“ใ‚ใงใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฏใ€ๅพ“ๆฅใ€่ฆ–็ฅž็ตŒ่„Š้ซ„ๅž‹MS๏ผˆopticospinal MS๏ผšOSMS๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ใใฎไธญใซใฏ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆneuromyelitis optica๏ผšNMO๏ผ‰็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆฌง็ฑณไบบใซๅคšใใ€่ฆ–็ฅž็ตŒใ‚„่„Š้ซ„ใฎใฟใชใ‚‰ใšๅคง่„ณใ‚„ๅฐ่„ณใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹MSใฏ้€šๅธธๅž‹MS๏ผˆconventional MS๏ผšCMS๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200904" ; - terms:source ; - a owl:Class ; - rdfs:label "multiple sclerosis"@en, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005301 ; + + nando:hasNotificationNumber "59" ; + dcterms:description "ๅคš็™บๆ€ง็กฌๅŒ–็—‡multiple sclerosis๏ผˆ๏ผญ๏ผณ๏ผ‰ใฏไธญๆžข็ฅž็ตŒ็ณปใฎๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚Šใ€ๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚้€šๅธธใ€่ฉณ็ดฐใช็—…ๆญด่ดๅ–ใ‚„็ตŒๆ™‚็š„ใช็ฅž็ตŒๅญฆ็š„่จบๅฏŸใซใ‚ˆใ‚Šๆ™‚้–“็š„ใƒป็ฉบ้–“็š„ใช็—…ๅค‰ใฎๅคš็™บๆ€งใ‚’่จผๆ˜Žใ—ใ€ไป–ใฎ็–พๆ‚ฃใ‚’ๅฆๅฎšใ™ใ‚‹ใ“ใจใง่จบๆ–ญใŒ็ขบๅฎšใ™ใ‚‹ใ€‚ใ—ใ‹ใ—MRIใ‚’ๆ’ฎๅƒใ™ใ‚‹ใจใ€ๅฎŸ้š›ใซใฏ็—‡็Šถใ‚’ๅ‡บใ—ใŸ็—…ๅทฃใฎไฝ•ๅ€ใ‚‚ใฎๆ•ฐใฎ็‚Ž็—‡ๆ€ง่„ฑ้ซ„็—…ๅทฃใŒไธญๆžข็ฅž็ตŒ็ต„็น”ใซๅ‡บ็พใ—ใฆใ„ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใฎ็‚นใ‚’่ธใพใˆใฆๆ”น่จ‚ใ•ใ‚ŒใŸ2010ๅนด็‰ˆMcDonald่จบๆ–ญๅŸบๆบ–ใงใฏใ€MRIๆ‰€่ฆ‹ใŒ้‡่ฆ–ใ•ใ‚Œใ€ใ•ใ‚‰ใซ้€ ๅฝฑMRIใ‚’็”จใ„ใ‚‹ใ“ใจใง๏ผ‘ๅ›žใฎๆคœๆŸปใงใ‚‚่จบๆ–ญใŒๅฏ่ƒฝใชใปใฉใซ็ฐกไพฟใงๆœ‰็”จใชใ‚‚ใฎใจใชใฃใฆใ„ใ‚‹ใ€‚ใŸใ ใ—ใ€ๆœฌ่จบๆ–ญๅŸบๆบ–ใฏใ€่„ฑ้ซ„็–พๆ‚ฃใงใ‚ใ‚‹ใ“ใจใŒใปใผ็ขบๅฎŸใช็—‡ไพ‹ใซใคใ„ใฆใ€ใชใ‚‹ในใๆ—ฉๆœŸใซMSใจใ—ใฆใฎ็ขบๅฎš่จบๆ–ญใ‚’่กŒใชใ†ใŸใ‚ใซไฝœๆˆใ•ใ‚ŒใŸใ‚‚ใฎใงใ‚ใ‚‹ใŸใ‚ใ€ๅๅˆ†ใซไป–็–พๆ‚ฃใ‚’้™คๅค–ใ™ใ‚‹ไฝœๆฅญใŒไธๅฏๆฌ ใงใ‚ใ‚‹ใ“ใจใฏใ€ๅพ“ๆฅใจๅค‰ใ‚ใ‚ŠใŒใชใ„ใ€‚ใจใ“ใ‚ใงใ€ไธปใจใ—ใฆ่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใซ็”ฑๆฅใ™ใ‚‹็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆ‚ฃ่€…ใฏใ€ๅพ“ๆฅใ€่ฆ–็ฅž็ตŒ่„Š้ซ„ๅž‹MS๏ผˆopticospinal MS๏ผšOSMS๏ผ‰ใจๅ‘ผใฐใ‚Œใฆใ„ใŸใŒใ€ใใฎไธญใซใฏ่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž๏ผˆneuromyelitis optica๏ผšNMO๏ผ‰็—…ๆ…‹ใ‚’ๆœ‰ใ™ใ‚‹ๆ‚ฃ่€…ใŒๅซใพใ‚Œใฆใ„ใ‚‹ใ€‚NMOใฏใ€ๅ…ƒๆฅใ€่ฆ–็ฅž็ตŒใจ่„Š้ซ„ใ‚’ๆฏ”่ผƒ็š„็ŸญๆœŸ้–“ใซๅผทใ้šœๅฎณใ™ใ‚‹็‚Ž็—‡ๆ€งใฎ็—…ๆ…‹ใ‚’่ƒŒๆ™ฏใซใ—ใŸใ€ๅ†็™บใ—ใชใ„็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใŸใŒใ€่ฟ‘ๅนดๅ†็™บๆ€งใฎ็—…ๆ…‹ใŒไธ€่ˆฌ็š„ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใ€่ก€ๆธ…ไธญใซๅญ˜ๅœจใ™ใ‚‹ๆŠ—ใ‚ขใ‚ฏใ‚ขใƒใƒชใƒณ๏ผ”๏ผˆAQP4๏ผ‰ๆŠ—ไฝ“ใฎ็—…ๆ…‹ๅฝขๆˆใธใฎ้–ขไธŽใŒ่งฃๆ˜Žใ•ใ‚Œใคใคใ‚ใ‚‹ใ€‚ไธ€ๆ–นใ€ๆฌง็ฑณไบบใซๅคšใใ€่ฆ–็ฅž็ตŒใ‚„่„Š้ซ„ใฎใฟใชใ‚‰ใšๅคง่„ณใ‚„ๅฐ่„ณใซ็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹MSใฏ้€šๅธธๅž‹MS๏ผˆconventional MS๏ผšCMS๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200904" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Multiple sclerosis"@en, "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MS"@en ; + skos:closeMatch obo:MONDO_0005301 ; skos:prefLabel "ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . -:2200905 - :hasNotificationNumber "78" ; - terms:description "ๅ†็™บๆ€งใพใŸใฏๆ…ขๆ€ง้€ฒ่กŒๆ€งใซๆœซๆขข็ฅž็ตŒใฎ่„ฑ้ซ„ใ‚’็”Ÿใ˜ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆ„Ÿ่ฆš้šœๅฎณใ‚’็คบใ™่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200905" ; - terms:source ; + + nando:hasNotificationNumber "97" ; + dcterms:description "ๅ†็™บๆ€งใพใŸใฏๆ…ขๆ€ง้€ฒ่กŒๆ€งใซๆœซๆขข็ฅž็ตŒใฎ่„ฑ้ซ„ใ‚’็”Ÿใ˜ใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ‚ใ‚‹ใ„ใฏๆ„Ÿ่ฆš้šœๅฎณใ‚’็คบใ™่‡ชๅทฑๅ…็–ซๆ€ง็‚Ž็—‡ๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200905" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Chronic inflammatory demyelinating polyneuropathy"@en, "ใพใ‚“ใ›ใ„ใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใ ใคใšใ„ใ›ใ„ใŸใฏใคใ—ใ‚“ใ‘ใ„ใˆใ‚“"@ja-Hira, "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "CIDP"@en ; - skos:closeMatch mondo:MONDO_0002335, mondo:MONDO_0006702, mondo:MONDO_0007691 ; + skos:closeMatch obo:MONDO_0002335, obo:MONDO_0006702, obo:MONDO_0007691 ; skos:prefLabel "ๆ…ขๆ€ง็‚Ž็—‡ๆ€ง่„ฑ้ซ„ๆ€งๅคš็™บ็ฅž็ตŒ็‚Ž"@ja . -:2200906 - :hasNotificationNumber "20" ; - terms:description "้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMyasthenia gravis: MG๏ผ‰ใฏ็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎไฟกๅทไผ้”ใซ้–ขใ‚ใ‚‹่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใฃใฆ๏ผŒ็ฅž็ตŒ็ญ‹ใฎๅˆบๆฟ€ไผ้”ใŒ้šœๅฎณใ•ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽไธปใชๆจ™็š„ๆŠ—ๅŽŸใฏใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAcetylcholine receptor: AChR๏ผ‰ใงใ‚ใ‚‹ใŒ๏ผŒ็ญ‹็‰น็•ฐ็š„ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผŽ่‡จๅบŠ็—‡็Šถใฏ๏ผŒ้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹(ๆ˜“็–ฒๅŠดๆ€ง)๏ผŒๅค•ๆ–นใซ็—‡็ŠถใŒๆ†Žๆ‚ชใ™ใ‚‹(ๆ—ฅๅ†…ๅค‰ๅ‹•)ใ‚’็‰นๅพดใจใ™ใ‚‹๏ผŽ"@ja ; - terms:identifier "2200906" ; - terms:source ; + + nando:hasNotificationNumber "20" ; + dcterms:description "้‡็—‡็ญ‹็„กๅŠ›็—‡๏ผˆMyasthenia gravis: MG๏ผ‰ใฏ็ฅž็ตŒ็ญ‹ๆŽฅๅˆ้ƒจใฎไฟกๅทไผ้”ใซ้–ขใ‚ใ‚‹่›‹็™ฝใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใซใ‚ˆใฃใฆ๏ผŒ็ฅž็ตŒ็ญ‹ใฎๅˆบๆฟ€ไผ้”ใŒ้šœๅฎณใ•ใ‚Œใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽไธปใชๆจ™็š„ๆŠ—ๅŽŸใฏใ‚ทใƒŠใƒ—ใ‚นๅพŒ่†œไธŠใฎใƒ‹ใ‚ณใƒใƒณๆ€งใ‚ขใ‚ปใƒใƒซใ‚ณใƒชใƒณๅ—ๅฎนไฝ“๏ผˆAcetylcholine receptor: AChR๏ผ‰ใงใ‚ใ‚‹ใŒ๏ผŒ็ญ‹็‰น็•ฐ็š„ใƒใƒญใ‚ทใƒณใ‚ญใƒŠใƒผใ‚ผ๏ผˆMuSK๏ผ‰ใ‚’ๆจ™็š„ใจใ™ใ‚‹่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚‚ๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใฆใ„ใ‚‹๏ผŽ่‡จๅบŠ็—‡็Šถใฏ๏ผŒ้‹ๅ‹•ใฎๅๅพฉใซใ‚ˆใ‚‹็ญ‹ๅŠ›ไฝŽไธ‹(ๆ˜“็–ฒๅŠดๆ€ง)๏ผŒๅค•ๆ–นใซ็—‡็ŠถใŒๆ†Žๆ‚ชใ™ใ‚‹(ๆ—ฅๅ†…ๅค‰ๅ‹•)ใ‚’็‰นๅพดใจใ™ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200906" ; + dcterms:source ; a owl:Class ; - rdfs:label "myasthenia gravis"@en, "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Myasthenia gravis"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "MG"@en ; - skos:closeMatch mondo:MONDO_0009688 ; + skos:closeMatch obo:MONDO_0009688 ; skos:prefLabel "้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja . -:2200907 - :hasNotificationNumber "28" ; - terms:description "ไนณ็ณ–ไธ่€็—‡ใจใฏใ€ใƒŸใƒซใ‚ฏใซๅซใพใ‚Œใ‚‹็ณ–่ณชใงใ‚ใ‚‹ไนณ็ณ–ใ‚’ใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ™ใ‚‹ไนณ็ณ–ๅˆ†่งฃ้…ต็ด ๏ผˆใƒฉใ‚ฏใ‚ฟใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€ไนณ็ณ–ใ‚’ๆถˆๅŒ–ๅธๅŽใงใใšใ€่‘—ใ—ใ„ไธ‹็—ขใ‚„ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฎๅŽŸๅ› ใซใฏใ€ๅ…ˆๅคฉๆ€งใฎ้…ต็ด ๆฌ ๆใจไบŒๆฌกๆ€งใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ใŒใ‚ใ‚‹ใ€‚ใŸใ ใ—ใ€ๅ“บไนณ้กžใงใฏ็”ŸๅพŒไธ€ๅฎšๆœŸ้–“ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งใฏ้žๅธธใซ้ซ˜ใใ€ๆŽˆไนณๆœŸใ‚’้ŽใŽใ‚‹ใจๆดปๆ€งใŒ็”Ÿ็†็š„ใซไฝŽไธ‹ใ™ใ‚‹ใ€‚ใพใŸใ€ๆ„ŸๆŸ“ๆ€ง่…ธ็‚Žใชใฉใซใ‚ˆใ‚‹ไบŒๆฌก็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฏๅŽŸๅ‰‡ใจใ—ใฆ็”Ÿ็†็š„ๆดปๆ€งใƒฌใƒ™ใƒซใซๅ›žๅพฉใ™ใ‚‹ใŸใ‚ใ€ใ“ใ“ใง่ฟฐในใ‚‹ไนณ็ณ–ไธ่€็—‡ใฏๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใซๅŸบใฅใ็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚"@ja ; - terms:identifier "2200907" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "ไนณ็ณ–ไธ่€็—‡ใจใฏใ€ใƒŸใƒซใ‚ฏใซๅซใพใ‚Œใ‚‹็ณ–่ณชใงใ‚ใ‚‹ไนณ็ณ–ใ‚’ใ‚ฐใƒซใ‚ณใƒผใ‚นใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใซๅˆ†่งฃใ™ใ‚‹ไนณ็ณ–ๅˆ†่งฃ้…ต็ด ๏ผˆใƒฉใ‚ฏใ‚ฟใƒผใ‚ผ๏ผ‰ใฎๆดปๆ€งใŒไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€ไนณ็ณ–ใ‚’ๆถˆๅŒ–ๅธๅŽใงใใšใ€่‘—ใ—ใ„ไธ‹็—ขใ‚„ไฝ“้‡ๅข—ๅŠ ไธ่‰ฏใ‚’ใใŸใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฎๅŽŸๅ› ใซใฏใ€ๅ…ˆๅคฉๆ€งใฎ้…ต็ด ๆฌ ๆใจไบŒๆฌกๆ€งใฎ้…ต็ด ๆดปๆ€งไฝŽไธ‹ใŒใ‚ใ‚‹ใ€‚ใŸใ ใ—ใ€ๅ“บไนณ้กžใงใฏ็”ŸๅพŒไธ€ๅฎšๆœŸ้–“ใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งใฏ้žๅธธใซ้ซ˜ใใ€ๆŽˆไนณๆœŸใ‚’้ŽใŽใ‚‹ใจๆดปๆ€งใŒ็”Ÿ็†็š„ใซไฝŽไธ‹ใ™ใ‚‹ใ€‚ใพใŸใ€ๆ„ŸๆŸ“ๆ€ง่…ธ็‚Žใชใฉใซใ‚ˆใ‚‹ไบŒๆฌก็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใฏๅŽŸๅ‰‡ใจใ—ใฆ็”Ÿ็†็š„ๆดปๆ€งใƒฌใƒ™ใƒซใซๅ›žๅพฉใ™ใ‚‹ใŸใ‚ใ€ใ“ใ“ใง่ฟฐในใ‚‹ไนณ็ณ–ไธ่€็—‡ใฏๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆ—ฉๆœŸใซ็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็š„ใชใƒฉใ‚ฏใ‚ฟใƒผใ‚ผๆดปๆ€งไฝŽไธ‹ใซๅŸบใฅใ็—…ๆ…‹ใ‚’ใ•ใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200907" ; + dcterms:source ; a owl:Class ; - rdfs:label "lactose intolerance"@en, "ไนณ็ณ–ไธ่€็—‡"@ja ; + rdfs:label "Lactose intolerance"@en, "ใซใ‚…ใ†ใจใ†ใตใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "ไนณ็ณ–ไธ่€็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009116 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009116 ; skos:prefLabel "ไนณ็ณ–ไธ่€็—‡"@ja . -:2200908 - :hasNotificationNumber "25" ; - terms:description "่”—็ณ–ใƒปใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡๏ผˆCSID๏ผ‰ใฏใ€ไบŒ็ณ–้กžใงใ‚ใ‚‹่”—็ณ–ใจ้บฆ่Šฝ็ณ–ใ‚’่…ธใงๅˆ†่งฃใ™ใ‚‹้…ต็ด ใฎๅƒใใŒๆฌ ๆใ—ใŸใ‚Šใ€่‘—ใ—ใไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€่”—็ณ–ใ€้บฆ่Šฝ็ณ–ใ€ใŠใ‚ˆใณๆพฑ็ฒ‰ใ‚’ๅฐ่…ธใงๅˆ†่งฃใ—ใฆๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใšใ€็ ‚็ณ–ใ‚„ๆพฑ็ฒ‰ใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจๆฟ€ใ—ใ„ไธ‹็—ขใจ่…น้ƒจ่†จๆบ€ใ‚’ใใŸใ™ๅ…ˆๅคฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200908" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "่”—็ณ–ใƒปใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡๏ผˆCSID๏ผ‰ใฏใ€ไบŒ็ณ–้กžใงใ‚ใ‚‹่”—็ณ–ใจ้บฆ่Šฝ็ณ–ใ‚’่…ธใงๅˆ†่งฃใ™ใ‚‹้…ต็ด ใฎๅƒใใŒๆฌ ๆใ—ใŸใ‚Šใ€่‘—ใ—ใไฝŽไธ‹ใ—ใฆใ„ใ‚‹ใŸใ‚ใซใ€่”—็ณ–ใ€้บฆ่Šฝ็ณ–ใ€ใŠใ‚ˆใณๆพฑ็ฒ‰ใ‚’ๅฐ่…ธใงๅˆ†่งฃใ—ใฆๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใšใ€็ ‚็ณ–ใ‚„ๆพฑ็ฒ‰ใ‚’ๆ‘‚ๅ–ใ™ใ‚‹ใจๆฟ€ใ—ใ„ไธ‹็—ขใจ่…น้ƒจ่†จๆบ€ใ‚’ใใŸใ™ๅ…ˆๅคฉ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200908" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital sucrase-isomaltase deficiency"@en, "ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:label "Congenital sucrase-isomaltase deficiency"@en, "ใ—ใ‚‡ใจใ†ใ„ใใฐใใŒใจใ†ใถใ‚“ใ‹ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "CSID"@en ; - skos:closeMatch mondo:MONDO_0009114 ; + skos:closeMatch obo:MONDO_0009114 ; skos:prefLabel "ใ‚ทใƒง็ณ–ใ‚คใ‚ฝ้บฆ่Šฝ็ณ–ๅˆ†่งฃ้…ต็ด ๆฌ ๆ็—‡"@ja . -:2200909 - :hasNotificationNumber "26" ; - terms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธๅ…จ็—‡ใฏใ€ๅฐ่…ธไธŠ็šฎใ‹ใ‚‰ใƒ–ใƒ‰ใ‚ฆ็ณ–ใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใŠใ‚ˆใณใใ‚Œใ‚‰ใงๆง‹ๆˆใ•ใ‚Œใ‚‹ๅˆ†ๅญใ‚’ๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ใซใ€ๅ‡บ็”ŸๅพŒใฎๅ“บไนณ้–‹ๅง‹ใจใจใ‚‚ใซๆฟ€ใ—ใ„ไธ‹็—ขใŒใฏใ˜ใพใ‚Šใ€ๆ•ฐๆ—ฅใชใ„ใ—ๆ•ฐ้€ฑใฎใ†ใกใซ้‡็ฏคใช่„ฑๆฐดใ€ไฝŽ่ก€็ณ–ใ‚„ใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200909" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "ใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธๅ…จ็—‡ใฏใ€ๅฐ่…ธไธŠ็šฎใ‹ใ‚‰ใƒ–ใƒ‰ใ‚ฆ็ณ–ใจใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นใ€ใŠใ‚ˆใณใใ‚Œใ‚‰ใงๆง‹ๆˆใ•ใ‚Œใ‚‹ๅˆ†ๅญใ‚’ๅธๅŽใ™ใ‚‹ใ“ใจใŒใงใใชใ„ใŸใ‚ใซใ€ๅ‡บ็”ŸๅพŒใฎๅ“บไนณ้–‹ๅง‹ใจใจใ‚‚ใซๆฟ€ใ—ใ„ไธ‹็—ขใŒใฏใ˜ใพใ‚Šใ€ๆ•ฐๆ—ฅใชใ„ใ—ๆ•ฐ้€ฑใฎใ†ใกใซ้‡็ฏคใช่„ฑๆฐดใ€ไฝŽ่ก€็ณ–ใ‚„ใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใซ้™ฅใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200909" ; + dcterms:source ; a owl:Class ; - rdfs:label "glucose-galactose malabsorption"@en, "ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡"@ja ; + rdfs:label "Glucose-galactose malabsorption"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใใ‚‹ใ“ใƒผใ™ใƒปใŒใ‚‰ใใจใƒผใ™ใใ‚…ใ†ใ—ใ‚…ใ†ใตใ‚Šใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "GGM"@en ; - skos:closeMatch mondo:MONDO_0011731 ; + skos:closeMatch obo:MONDO_0011731 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งใ‚ฐใƒซใ‚ณใƒผใ‚นใƒปใ‚ฌใƒฉใ‚ฏใƒˆใƒผใ‚นๅธๅŽไธ่‰ฏ็—‡"@ja . -:2200910 - :hasNotificationNumber "24" ; - terms:description "ๆœฌ็—‡ใฏใ€1969ๅนดHadornใ‚‰ใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใฏๅไบŒๆŒ‡่…ธใ€็ฉบ่…ธ็ฒ˜่†œใซๅญ˜ๅœจใ—ใ€ใƒˆใƒชใƒ—ใ‚ทใƒŽใ‚ฒใƒณใ‚’ๆดปๆ€งๅŒ–ใ—ใฆใƒˆใƒชใƒ—ใ‚ทใƒณใซใ™ใ‚‹ๅƒใใŒใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใซใŠใ„ใฆใฏใ€ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่›‹็™ฝ่ณชๅˆ†่งฃๆดปๆ€งใฎๅฎŒๅ…จใชๆฌ ๆใ‚’ๆฅใ™ใ€‚"@ja ; - terms:identifier "2200910" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ๆœฌ็—‡ใฏใ€1969ๅนดHadornใ‚‰ใซใ‚ˆใ‚Šๆœ€ๅˆใซๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใฏๅไบŒๆŒ‡่…ธใ€็ฉบ่…ธ็ฒ˜่†œใซๅญ˜ๅœจใ—ใ€ใƒˆใƒชใƒ—ใ‚ทใƒŽใ‚ฒใƒณใ‚’ๆดปๆ€งๅŒ–ใ—ใฆใƒˆใƒชใƒ—ใ‚ทใƒณใซใ™ใ‚‹ๅƒใใŒใ‚ใ‚‹ใ€‚ๆœฌ็—‡ใซใŠใ„ใฆใฏใ€ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผใŒๅ…ˆๅคฉ็š„ใซๆฌ ๆใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€่›‹็™ฝ่ณชๅˆ†่งฃๆดปๆ€งใฎๅฎŒๅ…จใชๆฌ ๆใ‚’ๆฅใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200910" ; + dcterms:source ; a owl:Class ; - rdfs:label "enterokinase deficiency"@en, "ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Enterokinase deficiency"@en, "ใˆใ‚“ใฆใ‚ใใชใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009173 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009173 ; skos:prefLabel "ใ‚จใƒณใƒ†ใƒญใ‚ญใƒŠใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200911 - :hasNotificationNumber "23" ; - terms:description "ๅ…ˆๅคฉๆ€งใฎใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅˆ†ๆณŒ่ƒฝใฎๆˆ็†Ÿ้…ๅปถใŒๅŽŸๅ› ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซใฏๅคš็ณ–้กžใฎๅธๅŽใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ“ใจใงใ€็™บ่‚ฒ้šœๅฎณใ‚„ใงใ‚“ใทใ‚“้ก†็ฒ’ใ‚’ๆททใ˜ใŸ็™บ้…ตๆ€งใฎไธ‹็—ขใ‚’ใใŸใ™ใ€‚ใƒชใƒ‘ใƒผใ‚ผใ‚„ใƒˆใƒชใƒ—ใ‚ทใƒณใชใฉไป–่†ต้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ‚‚ใฎใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๅฎถๆ—ๅ†…็™บ็”Ÿใ‚’่ชใ‚ใŸ่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ใฎๆˆไบบไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€็จ€ใงใฏใ‚ใ‚‹ใŒๆฐธ็ถš็š„ใช่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200911" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "ๅ…ˆๅคฉๆ€งใฎใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅˆ†ๆณŒ่ƒฝใฎๆˆ็†Ÿ้…ๅปถใŒๅŽŸๅ› ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซใฏๅคš็ณ–้กžใฎๅธๅŽใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ“ใจใงใ€็™บ่‚ฒ้šœๅฎณใ‚„ใงใ‚“ใทใ‚“้ก†็ฒ’ใ‚’ๆททใ˜ใŸ็™บ้…ตๆ€งใฎไธ‹็—ขใ‚’ใใŸใ™ใ€‚ใƒชใƒ‘ใƒผใ‚ผใ‚„ใƒˆใƒชใƒ—ใ‚ทใƒณใชใฉไป–่†ต้…ต็ด ใฎๆดปๆ€งไฝŽไธ‹ใ‚’ๅˆไฝตใ™ใ‚‹ใ‚‚ใฎใŒๅคšใ„ใ€‚ไธ€ๆ–นใ€ๅฎถๆ—ๅ†…็™บ็”Ÿใ‚’่ชใ‚ใŸ่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡ใฎๆˆไบบไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚ŒใฆใŠใ‚Šใ€็จ€ใงใฏใ‚ใ‚‹ใŒๆฐธ็ถš็š„ใช่†ตใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200911" ; + dcterms:source ; a owl:Class ; - rdfs:label "amylase deficiency"@en, "ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:label "Amylase deficiency"@en, "ใ‚ใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015169 ; skos:prefLabel "ใ‚ขใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200912 - :hasNotificationNumber "30" ; - terms:description "ๅ…ˆๅคฉๆ€งใฎใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€1964ๅนดใซSheldonใŒ2ๅฎถ็ณป4็—‡ไพ‹ใซใคใ„ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ€‚ๅ…ˆๅคฉ็š„ใซ่†ตใƒชใƒ‘ใƒผใ‚ผใฎใฟใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€็”ŸๅพŒ้–“ใ‚‚ใชใ่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Š้‡็ฏคใช่„‚่‚ชไพฟใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€ใƒชใƒ‘ใƒผใ‚ผใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใ‚ณใƒชใƒ‘ใƒผใ‚ผใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ไธก้…ต็ด ใ‚’ๅŒๆ™‚ใซๆฌ ๆใ—ใŸ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200912" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "ๅ…ˆๅคฉๆ€งใฎใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡ใฏใ€1964ๅนดใซSheldonใŒ2ๅฎถ็ณป4็—‡ไพ‹ใซใคใ„ใฆๆœ€ๅˆใซๅ ฑๅ‘Šใ—ใŸใ€‚ๅ…ˆๅคฉ็š„ใซ่†ตใƒชใƒ‘ใƒผใ‚ผใฎใฟใŒๆฌ ๆใ—ใฆใŠใ‚Šใ€็”ŸๅพŒ้–“ใ‚‚ใชใ่„‚่‚ชๅธๅŽ้šœๅฎณใซใ‚ˆใ‚Š้‡็ฏคใช่„‚่‚ชไพฟใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้€šๅธธใ€ใƒชใƒ‘ใƒผใ‚ผใฎ่ฃœ้…ต็ด ใงใ‚ใ‚‹ใ‚ณใƒชใƒ‘ใƒผใ‚ผใฏๆญฃๅธธใงใ‚ใ‚‹ใŒใ€ไธก้…ต็ด ใ‚’ๅŒๆ™‚ใซๆฌ ๆใ—ใŸ็—‡ไพ‹ใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200912" ; + dcterms:source ; a owl:Class ; - rdfs:label "lipase deficiency"@en, "ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Lipase deficiency"@en, "ใ‚Šใฑใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013700 ; skos:prefLabel "ใƒชใƒ‘ใƒผใ‚ผๆฌ ๆ็—‡"@ja . -:2200913 - :hasNotificationNumber "29" ; - terms:description "่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžใฎๅพฎ็ตจๆฏ›ใŒ่…ธ็ฎก่…”ๅดใซๆญฃๅธธใซๅฑ€ๅœจใงใใชใ„ใŸใ‚ใซๅคง้‡ใฎๆฐดๆง˜ไธ‹็—ขใ‚’ใใŸใ—ใ€ๆฐดใ€้›ป่งฃ่ณชใ‚„้‡็‚ญ้…ธใฎๅ–ชๅคฑใจๆ „้คŠ็ด ใฎๅธๅŽ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๅ‹ข้บไผๆ€ง็–พๆ‚ฃใ€‚้›ปๅญ้ก•ๅพฎ้ก็š„ใซๅพฎ็ตจๆฏ›ใฎๅฏ†ๅบฆใŒ็–ŽใงไธˆใŒไฝŽใ„ใ“ใจใ‹ใ‚‰ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡๏ผˆcongenital microvillus atrophy๏ผ‰ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸใ€‚"@ja ; - terms:identifier "2200913" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:description "่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžใฎๅพฎ็ตจๆฏ›ใŒ่…ธ็ฎก่…”ๅดใซๆญฃๅธธใซๅฑ€ๅœจใงใใชใ„ใŸใ‚ใซๅคง้‡ใฎๆฐดๆง˜ไธ‹็—ขใ‚’ใใŸใ—ใ€ๆฐดใ€้›ป่งฃ่ณชใ‚„้‡็‚ญ้…ธใฎๅ–ชๅคฑใจๆ „้คŠ็ด ใฎๅธๅŽ้šœๅฎณใ‚’ใใŸใ™ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๅ‹ข้บไผๆ€ง็–พๆ‚ฃใ€‚้›ปๅญ้ก•ๅพฎ้ก็š„ใซๅพฎ็ตจๆฏ›ใฎๅฏ†ๅบฆใŒ็–ŽใงไธˆใŒไฝŽใ„ใ“ใจใ‹ใ‚‰ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡๏ผˆcongenital microvillus atrophy๏ผ‰ใจใ‚‚ๅ‘ผ็งฐใ•ใ‚ŒใฆใใŸใ€‚"@ja ; + dcterms:identifier "NANDO:2200913" ; + dcterms:source ; a owl:Class ; - rdfs:label "microvillus inclusion disease"@en, "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…"@ja ; + rdfs:label "Microvillus inclusion disease"@en, "ใณใ˜ใ‚…ใ†ใ‚‚ใ†ใตใ†ใซใ‚…ใ†ใŸใ„ใณใ‚‡ใ†"@ja-Hira, "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009635 ; + rdfs:subClassOf ; + skos:altLabel "Congenital microvillus atrophy"@en, "ๅ…ˆๅคฉๆ€งๅพฎ็ตจๆฏ›่Ž็ธฎ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009635 ; skos:prefLabel "ๅพฎ็ตจๆฏ›ๅฐๅ…ฅไฝ“็—…"@ja . -:2200914 - :hasNotificationNumber "27" ; - terms:description "1961ๅนดใซWaldmannใ‚‰ใซใ‚ˆใ‚Šๆๅ”ฑใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚่…ธ็ฎกๅฃๅ†…ใฎใƒชใƒณใƒ‘็ฎกๅ†…ๅœงใŒไบข้€ฒใ—ใ€ใƒชใƒณใƒ‘็ฎกใฎๆ‹กๅผตใ‚„็ ด็ถปใ‚’ใใŸใ™ใ€‚ใใฎ็ตๆžœใ€ใƒชใƒณใƒ‘ๆถฒใจใจใ‚‚ใซ่›‹็™ฝๆˆๅˆ†ใŒ่…ธ็ฎกๅ†…ใธๆผๅ‡บใ—ไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ใใŸใ™ใ€‚"@ja ; - terms:identifier "2200914" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "1961ๅนดใซWaldmannใ‚‰ใซใ‚ˆใ‚Šๆๅ”ฑใ•ใ‚ŒใŸ็–พๆ‚ฃๆฆ‚ๅฟตใงใ‚ใ‚‹ใ€‚่…ธ็ฎกๅฃๅ†…ใฎใƒชใƒณใƒ‘็ฎกๅ†…ๅœงใŒไบข้€ฒใ—ใ€ใƒชใƒณใƒ‘็ฎกใฎๆ‹กๅผตใ‚„็ ด็ถปใ‚’ใใŸใ™ใ€‚ใใฎ็ตๆžœใ€ใƒชใƒณใƒ‘ๆถฒใจใจใ‚‚ใซ่›‹็™ฝๆˆๅˆ†ใŒ่…ธ็ฎกๅ†…ใธๆผๅ‡บใ—ไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ใใŸใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2200914" ; + dcterms:source ; a owl:Class ; - rdfs:label "Intestinal Lymphangiectasia"@en, "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡"@ja ; + rdfs:label "Intestinal lymphangiectasia"@en, "ใกใ‚‡ใ†ใ‚Šใ‚“ใฑใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018178 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018178 ; skos:prefLabel "่…ธใƒชใƒณใƒ‘็ฎกๆ‹กๅผต็—‡"@ja . -:2200915 - :hasNotificationNumber "39" ; - terms:description "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น(FAP)ใฏใ€APC้บไผๅญใฎ่ƒš็ดฐ่ƒžๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใ€ๅคง่…ธใฎๅคš็™บๆ€ง่…บ่…ซใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚‹ใจใปใผ100%ใฎ็—‡ไพ‹ใซๅคง่…ธ็™ŒใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ็™Œไปฅๅค–ใซใ‚‚ใ€ๆถˆๅŒ–็ฎกใ‚ใ‚‹ใ„ใฏใใฎไป–ใฎ่‡“ๅ™จใซๆง˜ใ€…ใช่…ซ็˜ๆ€งใŠใ‚ˆใณ้ž่…ซ็˜ๆ€งใฎ้šไผด็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ่…บ่…ซๆ€งใƒใ‚ทใƒใƒผใ‚ทใ‚นใซ่ปŸ้ƒจ่…ซ็˜ใ€้ชจ่…ซใ€ๆญฏ็‰™็•ฐๅธธใ€ใƒ‡ใ‚นใƒขใ‚คใƒ‰่…ซ็˜ใชใฉใ‚’ไผดใ†Gardner็—‡ๅ€™็พคใฏAPC้บไผๅญใฎ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€FAPใจๅŒไธ€็–พๆ‚ฃใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚APC้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ๅคง่…ธ็ทš่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใซ่„ณ่…ซ็˜๏ผˆไธปใซๅฐ่„ณใฎ้ซ„่Šฝ่…ซ๏ผ‰ใ‚’ไผดใ†Turcot็—‡ๅ€™็พค(type2)ใ‚‚FAPใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; - terms:identifier "2200915" ; - terms:source ; + + nando:hasNotificationNumber "39" ; + dcterms:description "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น(FAP)ใฏใ€APC้บไผๅญใฎ่ƒš็ดฐ่ƒžๅค‰็•ฐใ‚’ๅŽŸๅ› ใจใ—ใ€ๅคง่…ธใฎๅคš็™บๆ€ง่…บ่…ซใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๆ”พ็ฝฎใ™ใ‚‹ใจใปใผ100%ใฎ็—‡ไพ‹ใซๅคง่…ธ็™ŒใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ็™Œไปฅๅค–ใซใ‚‚ใ€ๆถˆๅŒ–็ฎกใ‚ใ‚‹ใ„ใฏใใฎไป–ใฎ่‡“ๅ™จใซๆง˜ใ€…ใช่…ซ็˜ๆ€งใŠใ‚ˆใณ้ž่…ซ็˜ๆ€งใฎ้šไผด็—…ๅค‰ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคง่…ธ่…บ่…ซๆ€งใƒใ‚ทใƒใƒผใ‚ทใ‚นใซ่ปŸ้ƒจ่…ซ็˜ใ€้ชจ่…ซใ€ๆญฏ็‰™็•ฐๅธธใ€ใƒ‡ใ‚นใƒขใ‚คใƒ‰่…ซ็˜ใชใฉใ‚’ไผดใ†Gardner็—‡ๅ€™็พคใฏAPC้บไผๅญใฎ็•ฐๅธธใŒๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€FAPใจๅŒไธ€็–พๆ‚ฃใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚APC้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ๅคง่…ธ็ทš่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใซ่„ณ่…ซ็˜๏ผˆไธปใซๅฐ่„ณใฎ้ซ„่Šฝ่…ซ๏ผ‰ใ‚’ไผดใ†Turcot็—‡ๅ€™็พค(type2)ใ‚‚FAPใจใ—ใฆๅ–ใ‚Šๆ‰ฑใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200915" ; + dcterms:source ; a owl:Class ; - rdfs:label "familial adenomatous polyposis"@en, "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Familial adenomatous polyposis"@en, "ใ‹ใžใใ›ใ„ใ›ใ‚“ใ—ใ‚…ใ›ใ„ใฝใ‚Šใฝใƒผใ—ใ™"@ja-Hira, "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "FAP"@en ; - skos:closeMatch mondo:MONDO_0021055 ; + skos:closeMatch obo:MONDO_0021055 ; skos:prefLabel "ๅฎถๆ—ๆ€ง่…บ่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น"@ja . -:2200916 - :hasNotificationNumber "40" ; - terms:description "ๅ…จๆถˆๅŒ–็ฎกใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใงใ‚ใ‚‹่‹ฅๅนดๆ€งใƒใƒชใƒผใƒ—ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ด„25๏ผ…ใฏๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใƒใƒชใƒผใƒ—ๆ•ฐใฏ5๏ฝž200ๅ€‹็จ‹ๅบฆใงใ‚ใ‚Šใ€็™บ็”Ÿ้ƒจไฝใ€ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…จๆถˆๅŒ–็ฎกๅž‹ใ€่ƒƒ้™ๅฑ€ๅž‹ใ€ๅคง่…ธ้™ๅฑ€ๅž‹ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200916" ; - terms:source ; + + nando:hasNotificationNumber "40" ; + dcterms:description "ๅ…จๆถˆๅŒ–็ฎกใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใงใ‚ใ‚‹่‹ฅๅนดๆ€งใƒใƒชใƒผใƒ—ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ด„25๏ผ…ใฏๅฎถๆ—ๆญดใฎใชใ„ๅผง็™บไพ‹ใงใ‚ใ‚‹ใ€‚็”Ÿๆถฏใƒใƒชใƒผใƒ—ๆ•ฐใฏ5๏ฝž200ๅ€‹็จ‹ๅบฆใงใ‚ใ‚Šใ€็™บ็”Ÿ้ƒจไฝใ€ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…จๆถˆๅŒ–็ฎกๅž‹ใ€่ƒƒ้™ๅฑ€ๅž‹ใ€ๅคง่…ธ้™ๅฑ€ๅž‹ใ€ๆ–ฐ็”Ÿๅ…ใƒปไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200916" ; + dcterms:source ; a owl:Class ; - rdfs:label "Juvenile polyposis"@en, "่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008276, mondo:MONDO_0017380 ; + rdfs:label "Juvenile polyposis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใฝใ‚Šใฝใƒผใ—ใ™"@ja-Hira, "่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017380 ; skos:prefLabel "่‹ฅๅนดๆ€งใƒใƒชใƒใƒผใ‚ทใ‚น"@ja . -:2200917 - :hasNotificationNumber "41" ; - terms:description "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พคใฏ้ฃŸ้“ใ‚’้™คใๅ…จๆถˆๅŒ–็ฎกใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใจๅฃๅ”‡ใ€ๅฃ่…”ใ€ๆŒ‡ๅฐ–้ƒจใ‚’ไธญๅฟƒใจใ™ใ‚‹็šฎ่†šใ€็ฒ˜่†œใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡่€…ใฎ็ด„50๏ผ…ใฏๅฎถๆ—ๆญดใŒใชใ„ๅญค็™บไพ‹ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใฏ็ฒ˜่†œไธŠ็šฎใฎ้Ž่ชค่…ซ็š„้Žๅฝขๆˆใ€็ฒ˜่†œ็ญ‹ๆฟใ‹ใ‚‰ใฎๅนณๆป‘็ญ‹็ทš็ถญๆŸใฎๆจนๆž็Šถๅข—็”ŸใŒ็‰นๅพดใงใ‚ใ‚Šใ€ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚นใƒใƒชใƒผใƒ—ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200917" ; - terms:source ; + + nando:hasNotificationNumber "41" ; + dcterms:description "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พคใฏ้ฃŸ้“ใ‚’้™คใๅ…จๆถˆๅŒ–็ฎกใฎ้Ž่ชค่…ซๆ€งใƒใƒชใƒใƒผใ‚ทใ‚นใจๅฃๅ”‡ใ€ๅฃ่…”ใ€ๆŒ‡ๅฐ–้ƒจใ‚’ไธญๅฟƒใจใ™ใ‚‹็šฎ่†šใ€็ฒ˜่†œใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็™บ็—‡่€…ใฎ็ด„50๏ผ…ใฏๅฎถๆ—ๆญดใŒใชใ„ๅญค็™บไพ‹ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใงใฟใ‚‰ใ‚Œใ‚‹้Ž่ชค่…ซๆ€งใƒใƒชใƒผใƒ—ใฏ็ฒ˜่†œไธŠ็šฎใฎ้Ž่ชค่…ซ็š„้Žๅฝขๆˆใ€็ฒ˜่†œ็ญ‹ๆฟใ‹ใ‚‰ใฎๅนณๆป‘็ญ‹็ทš็ถญๆŸใฎๆจนๆž็Šถๅข—็”ŸใŒ็‰นๅพดใงใ‚ใ‚Šใ€ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚นใƒใƒชใƒผใƒ—ใจๅ‘ผใฐใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200917" ; + dcterms:source ; a owl:Class ; - rdfs:label "Peutz-Jeghers syndrome"@en, "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Peutz-Jeghers syndrome"@en, "ใฝใ„ใคใƒปใ˜ใ‡ใŒใƒผใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Peutz-Jeghers็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008280 ; + skos:closeMatch obo:MONDO_0008280 ; skos:prefLabel "ใƒใ‚คใƒ„ใƒปใ‚ธใ‚งใ‚ฌใƒผใ‚น็—‡ๅ€™็พค"@ja . -:2200918 - :hasNotificationNumber "38" ; - terms:description "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พคใฏใ€็šฎ่†šใƒป็ฒ˜่†œใ€ๆถˆๅŒ–็ฎกใ€ไนณ่…บใ€็”ฒ็Šถ่…บใ€ไธญๆžข็ฅž็ตŒใ€ๆณŒๅฐฟ็”Ÿๆฎ–ๅ™จใชใฉใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€ง็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅทจ้ ญ็—‡ใ€้Ž่ชค่…ซๆ€งๅคง่…ธใƒใƒชใƒใƒผใ‚ทใ‚นใ€่„‚่‚ช่…ซใŠใ‚ˆใณ้™ฐ่ŒŽไบ€้ ญใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใƒใƒŠใƒคใƒณใƒปใƒฉใ‚คใƒชใƒผใƒปใƒซใƒใƒซใ‚ซใƒ็—‡ๅ€™็พค๏ผˆBannayan-Riley-Ruvalcaba syndrome๏ผŒไปฅไธ‹BRRS๏ผ‰ใฏๅ…ˆๅคฉๆ€งใฎ้‡็—‡ๅž‹ใจใ—ใฆๆ‰ฑใ†ใ€‚"@ja ; - terms:identifier "2200918" ; - terms:source ; + + nando:hasNotificationNumber "38" ; + dcterms:description "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พคใฏใ€็šฎ่†šใƒป็ฒ˜่†œใ€ๆถˆๅŒ–็ฎกใ€ไนณ่…บใ€็”ฒ็Šถ่…บใ€ไธญๆžข็ฅž็ตŒใ€ๆณŒๅฐฟ็”Ÿๆฎ–ๅ™จใชใฉใซ่‰ฏๆ€งใฎ้Ž่ชค่…ซๆ€ง็—…ๅค‰ใŒๅคš็™บใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅทจ้ ญ็—‡ใ€้Ž่ชค่…ซๆ€งๅคง่…ธใƒใƒชใƒใƒผใ‚ทใ‚นใ€่„‚่‚ช่…ซใŠใ‚ˆใณ้™ฐ่ŒŽไบ€้ ญใฎ่‰ฒ็ด ๆ–‘ใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใƒใƒŠใƒคใƒณใƒปใƒฉใ‚คใƒชใƒผใƒปใƒซใƒใƒซใ‚ซใƒ็—‡ๅ€™็พค๏ผˆBannayan-Riley-Ruvalcaba syndrome๏ผŒไปฅไธ‹BRRS๏ผ‰ใฏๅ…ˆๅคฉๆ€งใฎ้‡็—‡ๅž‹ใจใ—ใฆๆ‰ฑใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2200918" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cowden syndrome"@en, "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:label "Cowden syndrome"@en, "ใ‹ใ†ใงใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Cowden็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0016063 ; + skos:closeMatch obo:MONDO_0016063 ; skos:prefLabel "ใ‚ซใ‚ฆใƒ‡ใƒณ็—‡ๅ€™็พค"@ja . -:2200919 - :hasNotificationNumber "19" ; - terms:description "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค๏ผˆcyclic vomiting syndrome,CVS๏ผ‰ใฏๆ•ฐๆ—ฅ้–“ใฎๅ˜”ๅ็™บไฝœใ‚’ๅ‘จๆœŸ็š„ใซใใ‚Š่ฟ”ใ™ใŒ,้–“ๆฌ ๆœŸใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจ, ๆ•ฐๅนดใฎ็ตŒ้Žใซใ‚ˆใ‚Š่‡ช็„ถๆฒป็™’ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹.CVSใฏๅ…จใฆใฎไบบ็จฎใง่ฆ‹ใ‚‰ใ‚Œ,้ ปๅบฆใฏ็™ฝไบบใง2%ใจใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹.Liใ‚‰ใฏๅฐๅ…ใฎ็™บ็—‡ๅนด้ฝขใฏไธญๅคฎๅ€คใŒ4.8ๆญณใงๆœ€ๅฐ็™บ็—‡ๅนด้ฝขใฏ็”ŸๅพŒ6ๆ—ฅ,ๆˆไบบใฎ็™บ็—‡ๅนด้ฝขใฎไธญๅคฎๅ€คใฏ35ๆญณใงๆœ€้ซ˜้ฝขใฏ73ๆญณใงใ‚ใ‚Š,ๆ€งๅทฎใฏๅฐๅ…ใง57:43(ๅฅณ:็”ท),ๆˆไบบใงใฏ9:8(ๅฅณ:็”ท)ใจๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹1)."@ja ; - terms:identifier "2200919" ; - terms:source ; + + nando:hasNotificationNumber "19" ; + dcterms:description "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค๏ผˆcyclic vomiting syndrome,CVS๏ผ‰ใฏๆ•ฐๆ—ฅ้–“ใฎๅ˜”ๅ็™บไฝœใ‚’ๅ‘จๆœŸ็š„ใซใใ‚Š่ฟ”ใ™ใŒ,้–“ๆฌ ๆœŸใฏๆญฃๅธธใงใ‚ใ‚‹ใ“ใจ, ๆ•ฐๅนดใฎ็ตŒ้Žใซใ‚ˆใ‚Š่‡ช็„ถๆฒป็™’ใ™ใ‚‹ใ“ใจใ‚’็‰นๅพดใจใ™ใ‚‹.CVSใฏๅ…จใฆใฎไบบ็จฎใง่ฆ‹ใ‚‰ใ‚Œ,้ ปๅบฆใฏ็™ฝไบบใง2%ใจใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹.Liใ‚‰ใฏๅฐๅ…ใฎ็™บ็—‡ๅนด้ฝขใฏไธญๅคฎๅ€คใŒ4.8ๆญณใงๆœ€ๅฐ็™บ็—‡ๅนด้ฝขใฏ็”ŸๅพŒ6ๆ—ฅ,ๆˆไบบใฎ็™บ็—‡ๅนด้ฝขใฎไธญๅคฎๅ€คใฏ35ๆญณใงๆœ€้ซ˜้ฝขใฏ73ๆญณใงใ‚ใ‚Š,ๆ€งๅทฎใฏๅฐๅ…ใง57:43(ๅฅณ:็”ท),ๆˆไบบใงใฏ9:8(ๅฅณ:็”ท)ใจๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹1)."@ja ; + dcterms:identifier "NANDO:2200919" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cyclic Vomiting Syndrome"@en, "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค"@ja ; + rdfs:label "Cyclic vomiting syndrome"@en, "ใ—ใ‚…ใ†ใใ›ใ„ใŠใ†ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010778 ; + rdfs:subClassOf ; + skos:altLabel "CVS"@en ; + skos:closeMatch obo:MONDO_0010778 ; skos:prefLabel "ๅ‘จๆœŸๆ€งๅ˜”ๅ็—‡ๅ€™็พค"@ja . -:2200920 - :hasNotificationNumber "1" ; - terms:description "ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใ—ใฐใ—ใฐใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅคง่…ธใฎๅŽŸๅ› ไธๆ˜Žใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐ็š„็‚Ž็—‡ใงใ€30ๆญณๆœชๆบ€ใฎๆˆไบบใซๅฅฝ็™บใ™ใ‚‹ใŒๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๆˆไบบใซใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆ€งไธ‹็—ขใ‚’ๆฅใŸใ—ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใชใ‚‹ใ€‚ๅฐๅ…ใฏ้€ฒ่กŒใŒๆ—ฉใใ€้‡็ฏคใชๅ…จๅคง่…ธ็‚Žๅž‹ใซ็งป่กŒใ—ใ‚„ใ™ใใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆŠตๆŠ—ๆ€งใŒๅคšใ„ใ€‚่ฟ‘ๅนดๅข—ๅŠ ๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200920" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "ไธปใจใ—ใฆ็ฒ˜่†œใ‚’ไพตใ—ใ€ใ—ใฐใ—ใฐใณใ‚‰ใ‚“ใ‚„ๆฝฐ็˜ใ‚’ๅฝขๆˆใ™ใ‚‹ๅคง่…ธใฎๅŽŸๅ› ไธๆ˜Žใฎใณใพใ‚“ๆ€ง้ž็‰น็•ฐ็š„็‚Ž็—‡ใงใ€30ๆญณๆœชๆบ€ใฎๆˆไบบใซๅฅฝ็™บใ™ใ‚‹ใŒๅฐๅ…ใ‚„50ๆญณไปฅไธŠใฎๆˆไบบใซใ‚‚็™บ็—‡ใ™ใ‚‹ใ€‚่ก€ๆ€งไธ‹็—ขใ‚’ๆฅใŸใ—ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎ็™บ็”Ÿๆฏๅœฐใจใชใ‚‹ใ€‚ๅฐๅ…ใฏ้€ฒ่กŒใŒๆ—ฉใใ€้‡็ฏคใชๅ…จๅคง่…ธ็‚Žๅž‹ใซ็งป่กŒใ—ใ‚„ใ™ใใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆŠตๆŠ—ๆ€งใŒๅคšใ„ใ€‚่ฟ‘ๅนดๅข—ๅŠ ๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200920" ; + dcterms:source ; a owl:Class ; - rdfs:label "Ulcerative colitis"@en, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005101, mondo:MONDO_0009960 ; + rdfs:label "Ulcerative colitis"@en, "ใ‹ใ„ใ‚ˆใ†ใ›ใ„ใ ใ„ใกใ‚‡ใ†ใˆใ‚“"@ja-Hira, "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005101 ; skos:prefLabel "ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Ž"@ja . -:2200921 - :hasNotificationNumber "2" ; - terms:description "ๆถˆๅŒ–็ฎกใฎ่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€็ต‚ๆœซๅ›ž่…ธใจๅคง่…ธใฎ็ฝนๆ‚ฃใŒๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€ๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ™ใ‚‹ใ€‚็‚Ž็—‡ใฏๆ€ฅๆ€งใพใŸใฏๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅฏ›่งฃใจๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่…ธ็ฒ˜่†œใ‹ใ‚‰่…ธ็ฎกๅ…จๅฑคใซๆณขๅŠใ™ใ‚‹็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ—ใ€ๆตฎ่…ซใ‚„ๆฝฐ็˜็—…ๅค‰ใŒๆ–‘็ŠถใซใพใŸใฏ็ทš็Šถใซ็™บ็”Ÿใ—ใ€่…ธ็ฎก็‹ญ็ช„ใ‚„็˜ปๅญ”ใชใฉใฎ็‰นๅพด็š„็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚็ฒ˜่†œๅ›บๆœ‰ๅฑคใซTNF-ฮฑใ‚’็”ฃ็”Ÿใ™ใ‚‹็ดฐ่ƒžใŒๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Š็‚Ž็—‡ใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200921" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ๆถˆๅŒ–็ฎกใฎ่‚‰่Šฝ่…ซๆ€ง็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใงใ€ไธปใจใ—ใฆ่‹ฅๅนด่€…ใซ็™บ็—‡ใ—ใ€็ต‚ๆœซๅ›ž่…ธใจๅคง่…ธใฎ็ฝนๆ‚ฃใŒๆœ€ใ‚‚้ ปๅบฆใŒ้ซ˜ใ„ใŒใ€ๅฃ่…”ใ‹ใ‚‰่‚›้–€ใพใงใฎใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ™ใ‚‹ใ€‚็‚Ž็—‡ใฏๆ€ฅๆ€งใพใŸใฏๆ…ขๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅฏ›่งฃใจๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ€‚่…ธ็ฒ˜่†œใ‹ใ‚‰่…ธ็ฎกๅ…จๅฑคใซๆณขๅŠใ™ใ‚‹็‚Ž็—‡ๆ€ง็—…ๅค‰ใ‚’็‰นๅพดใจใ—ใ€ๆตฎ่…ซใ‚„ๆฝฐ็˜็—…ๅค‰ใŒๆ–‘็ŠถใซใพใŸใฏ็ทš็Šถใซ็™บ็”Ÿใ—ใ€่…ธ็ฎก็‹ญ็ช„ใ‚„็˜ปๅญ”ใชใฉใฎ็‰นๅพด็š„็—…ๅค‰ใ‚’็”Ÿใ˜ใ‚‹ใ€‚็ฒ˜่†œๅ›บๆœ‰ๅฑคใซTNF-ฮฑใ‚’็”ฃ็”Ÿใ™ใ‚‹็ดฐ่ƒžใŒๅข—ๅŠ ใ—ใฆใŠใ‚Šใ€็‚Ž็—‡ๆ€งใ‚ตใ‚คใƒˆใ‚ซใ‚คใƒณใฎ้Žๅ‰ฐๅˆ†ๆณŒใซใ‚ˆใ‚Š็‚Ž็—‡ใŒๆƒน่ตทใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200921" ; + dcterms:source ; a owl:Class ; - rdfs:label "Crohn disease"@en, "ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Crohn's disease"@en, "ใใ‚ใƒผใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฏใƒญใƒผใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Crohn็—…"@ja ; - skos:closeMatch mondo:MONDO_0005011, mondo:MONDO_0009960 ; + skos:closeMatch obo:MONDO_0005011 ; skos:prefLabel "ใ‚ฏใƒญใƒผใƒณ็—…"@ja . -:2200922 - :hasNotificationNumber "4" ; - terms:identifier "2200922" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2200922" ; + dcterms:source ; a owl:Class ; - rdfs:label "Early-onset Inflammatory Bowel Disease"@en, "ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ"@ja ; + rdfs:label "Early-onset inflammatory bowel disease"@en, "ใใ†ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใˆใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใกใ‚‡ใ†ใ—ใฃใ‹ใ‚“"@ja-Hira, "ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๆ—ฉๆœŸ็™บ็—‡ๅž‹็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ"@ja . -:2200923 - :hasNotificationNumber "3" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใฃใฆ่…ธ็ฎกใŒ้šœๅฎณใ•ใ‚Œ๏ผŽ้›ฃๆฒปๆ€งไธ‹็—ข็—‡ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽUnsworthใ‚‰ใฏไปฅไธ‹ใฎ๏ผ”้ …็›ฎใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ—ใŸ๏ผŽ1. ้ฃŸ้คŒ็™‚ๆณ•ใƒปๅฎŒๅ…จ้™่„ˆๆ „้คŠใงๆ”นๅ–„ใ—ใชใ„ๆ…ขๆ€ง้›ฃๆฒปๆ€งไธ‹็—ข็—‡2. ๅไบŒๆŒ‡่…ธใƒปๅฐ่…ธ็”Ÿๆคœใง็ตจๆฏ›่Ž็ธฎ๏ผŒ็ฒ˜่†œๅ›บๆœ‰ๅฑคใธใฎๅ˜ๆ ธ็ดฐ่ƒžใƒปๅฝข่ณช็ดฐ่ƒžใ‚’ไธญๅฟƒใจใ—ใŸ็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹3. ๆญฃๅธธ่…ธ็ฎกใ‚’็”จใ„ใŸๅ…็–ซ็ต„็น”ๅญฆ็š„ๆ–นๆณ•ใง่ก€ๆธ…ไธญใซๆŠ—่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹๏ผŽใŸใ ใ—ๆ—ขใซๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑๆŠ—ๅŽŸ๏ผˆAIE-75, villin๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ้™ฝๆ€ง๏ผŽ4. ๆ˜Žใ‚‰ใ‹ใชๅ…็–ซไธๅ…จ็—‡ใŒใชใ„ใ—ใ‹ใ—ใใฎๅพŒ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฎไธป่ฆใชๅŸบ็คŽ็–พๆ‚ฃใงใ‚ใ‚‹โ€œๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ใ€่…ธ็–พๆ‚ฃใ‚’ไผดใ†ไผดๆ€งๅŠฃๆ€งๅ…็–ซ่ชฟ็ฏ€็•ฐๅธธ(immunedysregulation, polyendocrinopathy, enteropathy, X-linked;IPEX)็—‡ๅ€™็พคโ€ใฎ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใซใ„ใŸใ‚Š๏ผŒใ•ใ‚‰ใซใ“ใ‚ŒใŒๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใซๅˆ†้กžใ•ใ‚ŒใŸใ“ใจใ‹ใ‚‰๏ผŒไธŠ่จ˜้ …็›ฎใฎ1-3ใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ“ใจใŒๅˆ็†็š„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽIPEX็—‡ๅ€™็พคใฏFOXP3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใ‚’ไธป่ฆ็—‡ๅ€™ใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ๏ผ‘ๅž‹็ณ–ๅฐฟ็—…๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใชใฉๅคšๅฝฉใช่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’ๆฅใ™๏ผŽ"@ja ; - terms:identifier "2200923" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใซใ‚ˆใฃใฆ่…ธ็ฎกใŒ้šœๅฎณใ•ใ‚Œ๏ผŽ้›ฃๆฒปๆ€งไธ‹็—ข็—‡ใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽUnsworthใ‚‰ใฏไปฅไธ‹ใฎ๏ผ”้ …็›ฎใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ—ใŸ๏ผŽ1. ้ฃŸ้คŒ็™‚ๆณ•ใƒปๅฎŒๅ…จ้™่„ˆๆ „้คŠใงๆ”นๅ–„ใ—ใชใ„ๆ…ขๆ€ง้›ฃๆฒปๆ€งไธ‹็—ข็—‡2. ๅไบŒๆŒ‡่…ธใƒปๅฐ่…ธ็”Ÿๆคœใง็ตจๆฏ›่Ž็ธฎ๏ผŒ็ฒ˜่†œๅ›บๆœ‰ๅฑคใธใฎๅ˜ๆ ธ็ดฐ่ƒžใƒปๅฝข่ณช็ดฐ่ƒžใ‚’ไธญๅฟƒใจใ—ใŸ็ดฐ่ƒžๆตธๆฝคใ‚’่ชใ‚ใ‚‹3. ๆญฃๅธธ่…ธ็ฎกใ‚’็”จใ„ใŸๅ…็–ซ็ต„็น”ๅญฆ็š„ๆ–นๆณ•ใง่ก€ๆธ…ไธญใซๆŠ—่…ธ็ฎกไธŠ็šฎ็ดฐ่ƒžๆŠ—ไฝ“ใŒๆคœๅ‡บใ•ใ‚Œใ‚‹๏ผŽใŸใ ใ—ๆ—ขใซๅŒๅฎšใ•ใ‚Œใฆใ„ใ‚‹่‡ชๅทฑๆŠ—ๅŽŸ๏ผˆAIE-75, villin๏ผ‰ใซๅฏพใ™ใ‚‹่‡ชๅทฑๆŠ—ไฝ“ใŒ้™ฝๆ€ง๏ผŽ4. ๆ˜Žใ‚‰ใ‹ใชๅ…็–ซไธๅ…จ็—‡ใŒใชใ„ใ—ใ‹ใ—ใใฎๅพŒ๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใฎไธป่ฆใชๅŸบ็คŽ็–พๆ‚ฃใงใ‚ใ‚‹โ€œๅคš่…บๆ€งๅ†…ๅˆ†ๆณŒไธๅ…จ็—‡ใ€่…ธ็–พๆ‚ฃใ‚’ไผดใ†ไผดๆ€งๅŠฃๆ€งๅ…็–ซ่ชฟ็ฏ€็•ฐๅธธ(immunedysregulation, polyendocrinopathy, enteropathy, X-linked;IPEX)็—‡ๅ€™็พคโ€ใฎ็–พๆ‚ฃๆฆ‚ๅฟตใŒ็ขบ็ซ‹ใ•ใ‚Œ่ฒฌไปป้บไผๅญใŒๅŒๅฎšใ•ใ‚Œใ‚‹ใซใ„ใŸใ‚Š๏ผŒใ•ใ‚‰ใซใ“ใ‚ŒใŒๅŽŸ็™บๆ€งๅ…็–ซไธๅ…จ็—‡ใซๅˆ†้กžใ•ใ‚ŒใŸใ“ใจใ‹ใ‚‰๏ผŒไธŠ่จ˜้ …็›ฎใฎ1-3ใ‚’ๆบ€ใŸใ™ใ‚‚ใฎใ‚’่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใจๅฎš็พฉใ™ใ‚‹ใ“ใจใŒๅˆ็†็š„ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹๏ผŽIPEX็—‡ๅ€™็พคใฏFOXP3้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆ็”Ÿใ˜๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡ใ‚’ไธป่ฆ็—‡ๅ€™ใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚Š๏ผŒ๏ผ‘ๅž‹็ณ–ๅฐฟ็—…๏ผŒ่‡ชๅทฑๅ…็–ซๆ€ง็”ฒ็Šถ่…บ็‚Ž๏ผŒ่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€ใชใฉๅคšๅฝฉใช่‡ชๅทฑๅ…็–ซ็–พๆ‚ฃใ‚’ๆฅใ™๏ผŽ"@ja ; + dcterms:identifier "NANDO:2200923" ; + dcterms:source ; a owl:Class ; - rdfs:label "autoimmune enteropathy"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡"@ja ; + rdfs:label "Autoimmune enteropathy"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "IPEX็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0019787 ; + skos:closeMatch obo:MONDO_0019787 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่…ธ็—‡"@ja . -:2200924 - :hasNotificationNumber "3" ; - terms:identifier "2200924" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:2200924" ; + dcterms:source ; a owl:Class ; - rdfs:label "IPEX syndrome"@en, "IPEX็—‡ๅ€™็พค"@ja ; + rdfs:label "IPEX syndrome"@en, "IPEX็—‡ๅ€™็พค"@ja, "ใ‚ใ„ใบใฃใใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "IPEX็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010580 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010580 ; skos:prefLabel "IPEX็—‡ๅ€™็พค"@ja . -:2200925 - :hasNotificationNumber "33" ; - terms:description "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใ†ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ—ใ‹ใ—ใ€‚้›ฃๆฒปๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅ†…็ง‘็š„ๆฒป็™‚ใจใ—ใฆใฏๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€้‡็—‡ไพ‹ใงใฏๅ…ฅ้™ขใ€็ตถ้ฃŸใ€ๅฎŒๅ…จ้™่„ˆๆ „้คŠใŒๅฟ…่ฆใจใชใ‚‹ใ€‚่…ธ็ฎก็‹ญ็ช„ใซๅฏพใ—ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Š่ค‡ๆ•ฐๅ›žใฎๅฐ่…ธๅˆ‡้™คใซใ‚ˆใ‚Šใ€็Ÿญ่…ธ็—‡ใ‚’ใใŸใ—ใ†ใ‚‹ใ€‚ๅฐๅ…ไพ‹ใงใฏใ€ๆ „้คŠ้šœๅฎณใชใฉใงๆˆ้•ท็™บ้”ใซใ‚‚ๆ‚ชๅฝฑ้Ÿฟใ‚’ใใŸใ—ใ€้ฃŸไบ‹ๅˆถ้™ใ€ๅ…ฅ้™ขๆฒป็™‚ใชใฉใงใ€ๆ—ฅๅธธ็”Ÿๆดปใ€ๅญฆๆ ก็”Ÿๆดปใ€็คพไผš็”Ÿๆดปใ‚‚้šœๅฎณใ•ใ‚Œใ€ๆ‚ฃๅ…ใฎQOLใฏ่‘—ใ—ใ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200925" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใฏใ€ๅฐๅ…ๆœŸใ‹ใ‚‰็™บ็—‡ใ—ใ†ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎๅฐ่…ธๆฝฐ็˜็—‡ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎๅฝขๅผใง็™บ็—‡ใ™ใ‚‹็—‡ไพ‹ใŒๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ‹ใ‚‰ใ€้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ๅฏ่ƒฝๆ€งใŒ็คบๅ”†ใ•ใ‚Œใ‚‹ใ€‚ๆœฌ็—‡ใงใฏใ€้ž็‰น็•ฐ็š„ใช็ต„็น”ๅƒใ‚’ๅ‘ˆใ™ใ‚‹ๆต…ใ„ๆฝฐ็˜ใŒ็ต‚ๆœซๅ›ž่…ธไปฅๅค–ใฎๅ›ž่…ธใซๅคš็™บใ™ใ‚‹ใ€‚ๅฐ่…ธ็—…ๅค‰ใฎ่‚‰็œผๆ‰€่ฆ‹ใฏๆฅตใ‚ใฆ็‰นๅพด็š„ใงใ‚ใ‚Šใ€่ผช่ตฐใชใ„ใ—ๆ–œ่ตฐใ™ใ‚‹ๅธฏ็Šถใฎๆฝฐ็˜ใŒๆžๅˆ†ใ‹ใ‚Œใ€ใ‚ใ‚‹ใ„ใฏ่žๅˆใ—ใชใŒใ‚‰ๅคš็™บใ™ใ‚‹ใ€‚่‡จๅบŠๅƒใจใ—ใฆใฏใ€ๆ…ขๆ€งใฎ้‰„ๆฌ ไนๆ€ง่ฒง่ก€ใจไฝŽ่›‹็™ฝ่ก€็—‡ใ‚’ไธปๅพดใจใ—ใ€็‚Ž็—‡ๆ‰€่ฆ‹ใฏใชใ„ใ‹่ปฝๅพฎใซใจใฉใพใ‚‹ใ€‚ใ—ใ‹ใ—ใ€‚้›ฃๆฒปๆ€งใƒปๅ†็™บๆ€งใฎ็ตŒ้Žใ‚’ใŸใฉใ‚Šใ€ๅ†…็ง‘็š„ๆฒป็™‚ใจใ—ใฆใฏๅฏพ็—‡็™‚ๆณ•ใ—ใ‹ใชใใ€้‡็—‡ไพ‹ใงใฏๅ…ฅ้™ขใ€็ตถ้ฃŸใ€ๅฎŒๅ…จ้™่„ˆๆ „้คŠใŒๅฟ…่ฆใจใชใ‚‹ใ€‚่…ธ็ฎก็‹ญ็ช„ใซๅฏพใ—ๆ‰‹่ก“ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚Š่ค‡ๆ•ฐๅ›žใฎๅฐ่…ธๅˆ‡้™คใซใ‚ˆใ‚Šใ€็Ÿญ่…ธ็—‡ใ‚’ใใŸใ—ใ†ใ‚‹ใ€‚ๅฐๅ…ไพ‹ใงใฏใ€ๆ „้คŠ้šœๅฎณใชใฉใงๆˆ้•ท็™บ้”ใซใ‚‚ๆ‚ชๅฝฑ้Ÿฟใ‚’ใใŸใ—ใ€้ฃŸไบ‹ๅˆถ้™ใ€ๅ…ฅ้™ขๆฒป็™‚ใชใฉใงใ€ๆ—ฅๅธธ็”Ÿๆดปใ€ๅญฆๆ ก็”Ÿๆดปใ€็คพไผš็”Ÿๆดปใ‚‚้šœๅฎณใ•ใ‚Œใ€ๆ‚ฃๅ…ใฎQOLใฏ่‘—ใ—ใ้šœๅฎณใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200925" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chronic nonspecific multiple ulcers of the small intestine"@en, "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Chronic nonspecific multiple ulcers of the small intestine"@en, "ใฒใจใใ„ใ›ใ„ใŸใฏใคใ›ใ„ใ—ใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ„ใ‚ˆใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "CEAS"@en, "Chronic enteropathy associated with SLCO2A1"@en ; - skos:closeMatch mondo:MONDO_0018766 ; + skos:closeMatch obo:MONDO_0018766 ; skos:prefLabel "้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡"@ja . -:2200926 - :hasNotificationNumber "17" ; - terms:description "่‚็ดฐ่ƒžใฎๆ€ฅ้€ŸใชๅฃŠๆญปใ‚ใ‚‹ใ„ใฏไปฃ่ฌๆฉŸ่ƒฝใฎ้šœๅฎณใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚Šใ€้‡็ฏคๅŒ–ใจใจใ‚‚ใซๅ‡ๅ›บ้šœๅฎณใ‚„ๆ„่ญ˜้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœฌ้‚ฆใงใฏๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถใ€Œ้›ฃๆฒปๆ€งใฎ่‚ใƒป่ƒ†้“็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใ€็ญ๏ผˆๆŒ็”ฐ็ญ๏ผ‰ใฎ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกๆ€ฅๆ€ง่‚ไธๅ…จใ‚’ใƒปๆญฃๅธธ่‚ใชใ„ใ—่‚ๆฉŸ่ƒฝใŒๆญฃๅธธใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹่‚ใซใƒป่‚้šœๅฎณใŒ็”Ÿใ˜ๅˆ็™บ็—‡็Šถๅ‡บ็พใ‹ใ‚‰8้€ฑไปฅๅ†…ใซใƒป้ซ˜ๅบฆใฎ่‚ๆฉŸ่ƒฝ้šœๅฎณใซๅŸบใคใ„ใฆใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆ™‚้–“ใŒ40%ไปฅไธ‹ใชใ„ใ—ใฏINRๅ€ค1.5ไปฅไธŠใ‚’็คบใ™ใ‚‚ใฎใ€€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใก่‚ๆ€งๆ˜็ก II ๅบฆไปฅไธŠใฎ่‚ๆ€ง่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ€Œๆ˜็กๅž‹ใ€ใงใ‚ใ‚‹ใ€‚ใ€€ใ—ใ‹ใ—ๅฐๅ…ใ€ใ“ใจใซไนณๅ…ใฎ่‚ๆ€ง่„ณ็—‡ใฏ่ฆณๅฏŸใซใ‚ˆใฃใฆๅˆคๅฎšใ™ใ‚‹ใ“ใจใŒๅฎนๆ˜“ใงใชใ„ใ€‚่ฟ‘ๅนดใฎๆฌง็ฑณใฎๅฐๅ…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏไบˆๅพŒใ‚’่งฃๆžใ—ใ€INRๅ€ค2.0ไปฅไธŠใงใ‚ใ‚Œใฐๆ„่ญ˜็Šถๆ…‹ใซใ‚ˆใ‚‰ใšๆ˜็กๅž‹ใจๅŒ็ญ‰ใจใ—ใฆๆ‰ฑใฃใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200926" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "่‚็ดฐ่ƒžใฎๆ€ฅ้€ŸใชๅฃŠๆญปใ‚ใ‚‹ใ„ใฏไปฃ่ฌๆฉŸ่ƒฝใฎ้šœๅฎณใซใ‚ˆใ‚Š่‚ๆฉŸ่ƒฝใŒ้ซ˜ๅบฆใซไฝŽไธ‹ใ—ใŸ็Šถๆ…‹ใงใ‚ใ‚Šใ€้‡็ฏคๅŒ–ใจใจใ‚‚ใซๅ‡ๅ›บ้šœๅฎณใ‚„ๆ„่ญ˜้šœๅฎณใ‚’ใใŸใ™ใ€‚ๆœฌ้‚ฆใงใฏๅŽš็”ŸๅŠดๅƒ็ง‘ๅญฆ็ ”็ฉถใ€Œ้›ฃๆฒปๆ€งใฎ่‚ใƒป่ƒ†้“็–พๆ‚ฃใซ้–ขใ™ใ‚‹่ชฟๆŸป็ ”็ฉถใ€็ญ๏ผˆๆŒ็”ฐ็ญ๏ผ‰ใฎ่จบๆ–ญๅŸบๆบ–ใŒ็”จใ„ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ™ใชใ‚ใกๆ€ฅๆ€ง่‚ไธๅ…จใ‚’ใƒปๆญฃๅธธ่‚ใชใ„ใ—่‚ๆฉŸ่ƒฝใŒๆญฃๅธธใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹่‚ใซใƒป่‚้šœๅฎณใŒ็”Ÿใ˜ๅˆ็™บ็—‡็Šถๅ‡บ็พใ‹ใ‚‰8้€ฑไปฅๅ†…ใซใƒป้ซ˜ๅบฆใฎ่‚ๆฉŸ่ƒฝ้šœๅฎณใซๅŸบใคใ„ใฆใƒ—ใƒญใƒˆใƒญใƒณใƒ“ใƒณๆ™‚้–“ใŒ40%ไปฅไธ‹ใชใ„ใ—ใฏINRๅ€ค1.5ไปฅไธŠใ‚’็คบใ™ใ‚‚ใฎใ€€ใจๅฎš็พฉใ—ใฆใ„ใ‚‹ใ€‚ใ“ใฎใ†ใก่‚ๆ€งๆ˜็ก II ๅบฆไปฅไธŠใฎ่‚ๆ€ง่„ณ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใŒใ€Œๆ˜็กๅž‹ใ€ใงใ‚ใ‚‹ใ€‚ใ€€ใ—ใ‹ใ—ๅฐๅ…ใ€ใ“ใจใซไนณๅ…ใฎ่‚ๆ€ง่„ณ็—‡ใฏ่ฆณๅฏŸใซใ‚ˆใฃใฆๅˆคๅฎšใ™ใ‚‹ใ“ใจใŒๅฎนๆ˜“ใงใชใ„ใ€‚่ฟ‘ๅนดใฎๆฌง็ฑณใฎๅฐๅ…ใฎใ‚ฌใ‚คใƒ‰ใƒฉใ‚คใƒณใงใฏไบˆๅพŒใ‚’่งฃๆžใ—ใ€INRๅ€ค2.0ไปฅไธŠใงใ‚ใ‚Œใฐๆ„่ญ˜็Šถๆ…‹ใซใ‚ˆใ‚‰ใšๆ˜็กๅž‹ใจๅŒ็ญ‰ใจใ—ใฆๆ‰ฑใฃใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200926" ; + dcterms:source ; a owl:Class ; - rdfs:label "acute liver failure with hepatic coma"@en, "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰"@ja ; + rdfs:label "Acute liver failure with hepatic coma"@en, "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใตใœใ‚“๏ผˆใ“ใ‚“ใ™ใ„ใŒใŸ๏ผ‰"@ja-Hira, "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "Hepatic coma"@en ; skos:prefLabel "ๆ€ฅๆ€ง่‚ไธๅ…จ๏ผˆๆ˜็กๅž‹๏ผ‰"@ja . -:2200927 - :hasNotificationNumber "44" ; - terms:description "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏๅ‡บ็”ŸๅพŒๆ—ฉๆœŸใ‹ใ‚‰่‚ๆฉŸ่ƒฝ็•ฐๅธธใ‚’ๅ‘ˆใ—ใ€็ต„็น”ๅญฆ็š„ใซ่‚่‡“ใŠใ‚ˆใณใ€่†ต่‡“ใ‚„ๅฟƒ่‡“ใชใฉใฎ็ถฒๅ†…็ณปไปฅๅค–ใฎ่ซธ่‡“ๅ™จใซ้‰„ๆฒˆ็€ใ‚’่ชใ‚ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‰„ไปฃ่ฌ็•ฐๅธธใซ่ตทๅ› ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™้บไผๆ€งใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚นใจใฏ็—…ๆ…‹ใŒ็•ฐใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200927" ; - terms:source ; - a owl:Class ; - rdfs:label "Neonatal Hemochromatosis"@en, "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009275 ; - skos:prefLabel "ๆ–ฐ็”Ÿๅ…ใƒ˜ใƒขใ‚ฏใƒญใƒžใƒˆใƒผใ‚ทใ‚น"@ja . - -:2200928 - :hasNotificationNumber "43" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใฏ่‡ชๅทฑๅ…็–ซๆฉŸๅบใŒ้–ขไธŽใ™ใ‚‹ๅŽŸๅ› ไธๆ˜Žใฎ่‚็–พๆ‚ฃใงใ€้บไผ็š„็ด ๅ› ใ‚‚้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹ใ€‚ไธญๅนดไปฅ้™ใฎๅฅณๆ€งใซๅฅฝ็™บใ™ใ‚‹ใŒใ€ๅฐๅ…ไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚ๅฐๅ…ๆœŸAIHใซใฏๅฅฝ็™บๅนด้ฝขใฏใชใใ€ไนณๅ…ๆœŸใ‹ใ‚‰ใ‚ใ‚‰ใ‚†ใ‚‹ๅนด้ฝขๅฑคใซ็™บ็—‡ใ™ใ‚‹ใ€‚ใ€€ๅ…ธๅž‹ไพ‹ใงใฏๆŠ—ๆ ธๆŠ—ไฝ“ใ€ๆŠ—ๅนณๆป‘็ญ‹ๆŠ—ไฝ“ใชใฉใฎ่‡ชๅทฑๆŠ—ไฝ“้™ฝๆ€งใ€IgG้ซ˜ๅ€คใชใฉใฎ็‰นๅพดใŒใ‚ใ‚‹ใŒใ€ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใงใฏ่‡ชๅทฑๆŠ—ไฝ“้™ฐๆ€งใ€IgGๆญฃๅธธไพ‹ใŒๅคšใใ€่จบๆ–ญใŒ้›ฃใ—ใ„ใ€‚ๆ€ฅๆ€ง่‚็‚Žๆง˜ใซ็™บ็—‡ใ™ใ‚‹AIHใซใฏ็ต„็น”ๅญฆ็š„ใซ็ทš็ถญๅŒ–ใŒ่ปฝๅบฆใ‚‚ใ—ใใฏใฟใ‚‰ใ‚Œใชใ„ๆ€ฅๆ€ง่‚็‚ŽๆœŸใจ็ทš็ถญๅŒ–ใŒ้€ฒ่กŒใ—ใฆใŠใ‚Šๆ…ขๆ€ง่‚็‚ŽใŒๅŸบ็คŽใซใ‚ใ‚‹ๆ€ฅๆ€งๅข—ๆ‚ชๆœŸใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200928" ; - terms:source ; - a owl:Class ; - rdfs:label "Autoimmune hepatitis"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "AIH"@en ; - skos:closeMatch mondo:MONDO_0016264 ; - skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž"@ja . - -:2200929 - :hasNotificationNumber "42" ; - terms:description "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž๏ผˆPrimary sclerosing cholangitis, PSC๏ผ‰ใฏ่‚ๅ†…ๅค–ใฎ่ƒ†็ฎกใซ็ทš็ถญๆ€ง็‹ญ็ช„ใจๆ‹กๅผตใ‚’็”Ÿใ˜ใ‚‹ใ€ๅŽŸๅ› ไธๆ˜Žใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆฝฐ็˜ๆ€งๅคง่…ธ็‚Žใชใฉใฎ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃ๏ผˆinflammatory bowel disease, IBD๏ผ‰ใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒๅคšใใ€ๅ…็–ซ็•ฐๅธธใ‚„้บไผ็š„็ด ๅ› ใฎ้–ขไธŽใŒๆŽจๅฎšใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅฐๅ…ใงใฏ่‡ชๅทฑๅ…็–ซ็พ่ฑกใŒๅผทใใฟใ‚‰ใ‚Œใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Ž๏ผˆAutoimmune hepatitis, AIH๏ผ‰ใจใฎ้‘‘ๅˆฅใŒ้›ฃใ—ใ„็—‡ไพ‹ใ‚„ใ€่‡ชๅทฑๅ…็–ซๆ€ง่‚็‚Žใจใฎๅˆไฝตไพ‹ใ‚‚ใฟใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200929" ; - terms:source ; - a owl:Class ; - rdfs:label "Primary sclerosing cholangitis"@en, "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "PSC"@en ; - skos:closeMatch mondo:MONDO_0002808, mondo:MONDO_0013433, mondo:MONDO_0018646 ; - skos:prefLabel "ๅŽŸ็™บๆ€ง็กฌๅŒ–ๆ€ง่ƒ†็ฎก็‚Ž"@ja . - -:2200930 - :hasNotificationNumber "16" ; - terms:description "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซใ‹ใ‘ใฆ่‚ๅค–่ƒ†็ฎกใŒ็ ดๅฃŠใ•ใ‚Œใ€ใพใŸใฏๆถˆๅคฑใ™ใ‚‹ใŸใ‚ใซ้–‰ๅกžๆ€ง้ป„็–ธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃๅ…ใฎ่‚ๅค–่ƒ†็ฎกใฏ็”Ÿๆฅใ‚ใ‚‹ใ„ใฏ็”ŸๅพŒใพใ‚‚ใชใใ‹ใ‚‰ๅฎŒๅ…จ้–‰ๅกžใ‚’ๆฅใŸใ—๏ผŒๆ”พ็ฝฎใ™ใ‚Œใฐ่ƒ†ๆฑๆ€ง่‚็กฌๅค‰ใธใจ้€ฒ่กŒใ—ใฆๆญปใซ่‡ณใ‚‹ใ€‚ๆ•‘ๅ‘ฝใฎใŸใ‚ใซใฏๅค–็ง‘็š„ๆ‰‹่ก“ใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200930" ; - terms:source ; - a owl:Class ; - rdfs:label "biliary atresia"@en, "่ƒ†้“้–‰้Ž–็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008867, mondo:MONDO_0028737 ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ๆœฌ็–พๆ‚ฃใฏๆ–ฐ็”Ÿๅ…ใ‹ใ‚‰ไนณๅ…ๆœŸๆ—ฉๆœŸใซใ‹ใ‘ใฆ่‚ๅค–่ƒ†็ฎกใŒ็ ดๅฃŠใ•ใ‚Œใ€ใพใŸใฏๆถˆๅคฑใ™ใ‚‹ใŸใ‚ใซ้–‰ๅกžๆ€ง้ป„็–ธใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆ‚ฃๅ…ใฎ่‚ๅค–่ƒ†็ฎกใฏ็”Ÿๆฅใ‚ใ‚‹ใ„ใฏ็”ŸๅพŒใพใ‚‚ใชใใ‹ใ‚‰ๅฎŒๅ…จ้–‰ๅกžใ‚’ๆฅใŸใ—๏ผŒๆ”พ็ฝฎใ™ใ‚Œใฐ่ƒ†ๆฑๆ€ง่‚็กฌๅค‰ใธใจ้€ฒ่กŒใ—ใฆๆญปใซ่‡ณใ‚‹ใ€‚ๆ•‘ๅ‘ฝใฎใŸใ‚ใซใฏๅค–็ง‘็š„ๆ‰‹่ก“ใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200930" ; + dcterms:source ; + a owl:Class ; + rdfs:label "biliary atresia"@en, "ใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "่ƒ†้“้–‰้Ž–็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "BA"@en ; + skos:closeMatch obo:MONDO_0008867, obo:MONDO_0028737 ; skos:prefLabel "่ƒ†้“้–‰้Ž–็—‡"@ja . -:2200931 - :hasNotificationNumber "11" ; - terms:description "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹๏ผˆใพใŸใฏๅคๅ…ธ็š„๏ผ‰ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ3็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200931" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใฏใ€ๅฐ่‘‰้–“่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใซใ‚ˆใ‚‹ๆ…ขๆ€ง่ƒ†ๆฑใ†ใฃๆปžใซ็‰นๅพด็š„ใช่‚ๅค–็—‡็Šถใ‚’ไผดใ†ใ€้บไผๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚ๅพ“ๆฅใฎ่‡จๅบŠ็—‡็Šถใซใ‚ˆใ‚‹่จบๆ–ญใงใฏใ€่‚่‡“ใ€้ก”่ฒŒใ€ๅฟƒ่ก€็ฎกใ€็œผ็ƒใ€ๆคŽไฝ“ใฎๅ…จใฆใซ็•ฐๅธธใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ๅ ดๅˆใ‚’ๅฎŒๅ…จๅž‹๏ผˆใพใŸใฏๅคๅ…ธ็š„๏ผ‰ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใ€่‚่‡“ใ‚’ๅซใ‚ใฆไธŠ่จ˜ใฎ3็—‡็Šถใ‚’ไผดใ†ๅ ดๅˆใ‚’ไธๅฎŒๅ…จๅž‹ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พคใจใ„ใ†ใ€‚่ฟ‘ๅนดใฏใ€ใ“ใ‚Œใ‚‰ใฎ่‡จๅบŠ็—‡็Šถใ‚’ๅ…จใฆใฏๆบ€ใŸใ•ใชใ„ใŒใ€็‰นๆœ‰ใฎ้บไผๅญ็•ฐๅธธใ‚’ไผดใ†ๅ ดๅˆใ‚‚ๆœฌ็—‡ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200931" ; + dcterms:source ; a owl:Class ; - rdfs:label "Alagille syndrome"@en, "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Alagille syndrome"@en, "ใ‚ใ‚‰ใ˜ใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Alagille็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007318 ; + skos:closeMatch obo:MONDO_0007318 ; skos:prefLabel "ใ‚ขใƒฉใ‚ธใƒผใƒซ็—‡ๅ€™็พค"@ja . -:2200932 - :hasNotificationNumber "12" ; - terms:description "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใจใฏใ€่‚็”Ÿๆคœใงๅฐ่‘‰้–“่ƒ†็ฎกใฎๆธ›ๅฐ‘ใ‚’่ชใ‚ใ€็”ปๅƒๆคœๆŸปใชใฉใง่‚ๅค–่ƒ†็ฎกใซใฏ้–‰้Ž–ใŒใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚่‚ๅค–ๅˆไฝต็—‡ใ‚’ใ‚‚ใค็—‡ๅ€™ๆ€งใฎAlagille็—‡ๅ€™็พคใฏ้™คๅค–ใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่‚ๅค–็—…ๅค‰ใฎใชใ„ใ‚‚ใฎใ‚’ใ€Œ้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใ€ใจๅ‘ผใถใ€‚"@ja ; - terms:identifier "2200932" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใจใฏใ€่‚็”Ÿๆคœใงๅฐ่‘‰้–“่ƒ†็ฎกใฎๆธ›ๅฐ‘ใ‚’่ชใ‚ใ€็”ปๅƒๆคœๆŸปใชใฉใง่‚ๅค–่ƒ†็ฎกใซใฏ้–‰้Ž–ใŒใชใ„ใ‚‚ใฎใ‚’ใ„ใ†ใ€‚่‚ๅค–ๅˆไฝต็—‡ใ‚’ใ‚‚ใค็—‡ๅ€™ๆ€งใฎAlagille็—‡ๅ€™็พคใฏ้™คๅค–ใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช่‚ๅค–็—…ๅค‰ใฎใชใ„ใ‚‚ใฎใ‚’ใ€Œ้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡ใ€ใจๅ‘ผใถใ€‚"@ja ; + dcterms:identifier "NANDO:2200932" ; + dcterms:source ; a owl:Class ; - rdfs:label "Non-syndromic paucity of intrahepatic bile duct"@en, "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡"@ja ; + rdfs:label "Non-syndromic paucity of intrahepatic bile duct"@en, "ใ‹ใ‚“ใชใ„ใŸใ‚“ใ‹ใ‚“ใ’ใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:altLabel "้ž็—‡ๅ€™ๆ€ง่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡"@ja ; skos:prefLabel "่‚ๅ†…่ƒ†็ฎกๆธ›ๅฐ‘็—‡"@ja . -:2200933 - :hasNotificationNumber "13" ; - terms:description "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡(Progressive familial intrahepatic cholestasis ; PFIC)ใฏใ€ไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅฎถๆ—ๆ€งใฎ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚็‰นๅพดใจใ—ใฆใฏใ€็พๅœจใพใงใซ3็จฎ้กžใฎ็•ฐใชใ‚‹้บไผๅญ็•ฐๅธธใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚ŒใซๅŸบใฅใ„ใฆ1-3ๅž‹ใฎ3็—…ๅž‹(PFIC1-3)ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€PFIC1, 2ใงใฏ่ก€ๆธ…็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธใŠใ‚ˆใณASTใƒปALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ฮณGTPๅ€คใŒๆญฃๅธธใ‚‚ใ—ใใฏ่ปฝๅบฆ้ซ˜ๅ€คใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ„ใšใ‚Œใ‚‚ไนณๅ…ๆœŸใ‹ใ‚‰ๆ…ขๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžใ‚’ๅ‘ˆใ—ใ€้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใŒใ€PFIC1ใงใฏไธ‹็—ขใ€่†ตๆฉŸ่ƒฝไธๅ…จใ€้›ฃ่ดใชใฉ่‚ๅค–็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใฎใซๅฏพใ—ใ€PFIC2ใฏ็—‡็ŠถใŒ่‚ใซ้™ๅฑ€ใ™ใ‚‹ไธ€ๆ–นใงๆ—ฉๆœŸใซ่‚ไธๅ…จใŒ้€ฒ่กŒใ—ใ€ๆ™‚ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไฟๅญ˜็š„ๆฒป็™‚ใฎ็„กๅŠนไพ‹ใฏ่‚็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใŒใ€็งปๆคๅพŒใฎ็ตŒ้Žใฏ่‚ๅค–็—‡็Šถใฎๆœ‰็„กใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚PFIC3ใฏๆ—ฅๆœฌไบบใงใฏ็™บ็—‡ใŒๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200933" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡(Progressive familial intrahepatic cholestasis ; PFIC)ใฏใ€ไนณๅ…ๆœŸใซ็™บ็—‡ใ—ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ๅฎถๆ—ๆ€งใฎ่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡ใงใ‚ใ‚‹ใ€‚็‰นๅพดใจใ—ใฆใฏใ€็พๅœจใพใงใซ3็จฎ้กžใฎ็•ฐใชใ‚‹้บไผๅญ็•ฐๅธธใŒๆŒ‡ๆ‘˜ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚ŒใซๅŸบใฅใ„ใฆ1-3ๅž‹ใฎ3็—…ๅž‹(PFIC1-3)ใซๅˆ†้กžใ•ใ‚ŒใฆใŠใ‚Šใ€PFIC1, 2ใงใฏ่ก€ๆธ…็›ดๆŽฅใƒ“ใƒชใƒซใƒ“ใƒณใ€็ท่ƒ†ๆฑ้…ธใŠใ‚ˆใณASTใƒปALTใฎ้ซ˜ๅ€คใ‚’ๅ‘ˆใ™ใ‚‹ใŒใ€ฮณGTPๅ€คใŒๆญฃๅธธใ‚‚ใ—ใใฏ่ปฝๅบฆ้ซ˜ๅ€คใงใ‚ใ‚‹ใ“ใจใŒ็‰นๅพดใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ€€ใ„ใšใ‚Œใ‚‚ไนณๅ…ๆœŸใ‹ใ‚‰ๆ…ขๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปžใ‚’ๅ‘ˆใ—ใ€้€ฒ่กŒๆ€งใฎ็ตŒ้Žใ‚’ใจใ‚‹ใŒใ€PFIC1ใงใฏไธ‹็—ขใ€่†ตๆฉŸ่ƒฝไธๅ…จใ€้›ฃ่ดใชใฉ่‚ๅค–็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹ใฎใซๅฏพใ—ใ€PFIC2ใฏ็—‡็ŠถใŒ่‚ใซ้™ๅฑ€ใ™ใ‚‹ไธ€ๆ–นใงๆ—ฉๆœŸใซ่‚ไธๅ…จใŒ้€ฒ่กŒใ—ใ€ๆ™‚ใซ่‚็ดฐ่ƒž็™Œใ‚’็™บ็—‡ใ™ใ‚‹ใ“ใจใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ไฟๅญ˜็š„ๆฒป็™‚ใฎ็„กๅŠนไพ‹ใฏ่‚็งปๆคใฎ้ฉๅฟœใจใชใ‚‹ใŒใ€็งปๆคๅพŒใฎ็ตŒ้Žใฏ่‚ๅค–็—‡็Šถใฎๆœ‰็„กใซใ‚ˆใ‚Š็•ฐใชใ‚‹ใ€‚PFIC3ใฏๆ—ฅๆœฌไบบใงใฏ็™บ็—‡ใŒๆฅตใ‚ใฆ็จ€ใงใ‚ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200933" ; + dcterms:source ; a owl:Class ; - rdfs:label "progressive familial intrahepatic cholestasis"@en, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Progressive familial intrahepatic cholestasis"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใžใใ›ใ„ใ‹ใ‚“ใชใ„ใŸใ‚“ใ˜ใ‚…ใ†ใ†ใฃใŸใ„ใ—ใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "PFIC"@en ; - skos:closeMatch mondo:MONDO_0008892, mondo:MONDO_0015762 ; + skos:closeMatch obo:MONDO_0015762 ; skos:prefLabel "้€ฒ่กŒๆ€งๅฎถๆ—ๆ€ง่‚ๅ†…่ƒ†ๆฑใ†ใฃๆปž็—‡"@ja . -:2200934 - :hasNotificationNumber "14" ; - terms:description "ๅ…ˆๅคฉๆ€งใฎ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ใงใ‚ใฃใฆใ€่‚‰็œผใง่‚ๅ†…่ƒ†็ฎกใฎๅคš็™บๆ€งใƒปๅˆ†็ฏ€็Šถใƒปๅšข็Šถใฎๆ‹กๅผตใ‚’ใฟใ‚‹ใ‚‚ใฎใŒๅคๅ…ธ็š„ใงใ‚ใ‚‹ใ€‚ๆฌง็ฑณใงCaroli disease ใฏๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ—ใ€ไผดใ†ใ‚‚ใฎใฏCaroli syndrome ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใงใ‚ซใƒญใƒช(Caroli)็—…ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏCaroli syndromeใซ็›ธๅฝ“ใ—ใ€ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ†ใ‚‚ใฎใŒๅคง้ƒจๅˆ†ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200934" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ๅ…ˆๅคฉๆ€งใฎ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡ใงใ‚ใฃใฆใ€่‚‰็œผใง่‚ๅ†…่ƒ†็ฎกใฎๅคš็™บๆ€งใƒปๅˆ†็ฏ€็Šถใƒปๅšข็Šถใฎๆ‹กๅผตใ‚’ใฟใ‚‹ใ‚‚ใฎใŒๅคๅ…ธ็š„ใงใ‚ใ‚‹ใ€‚ๆฌง็ฑณใงCaroli disease ใฏๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ—ใ€ไผดใ†ใ‚‚ใฎใฏCaroli syndrome ใจใ—ใฆๅŒบๅˆฅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๆœฌ้‚ฆใงใ‚ซใƒญใƒช(Caroli)็—…ใจใ—ใฆๅ ฑๅ‘Šใ•ใ‚Œใ‚‹ใ‚‚ใฎใฏCaroli syndromeใซ็›ธๅฝ“ใ—ใ€ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใ‚’ไผดใ†ใ‚‚ใฎใŒๅคง้ƒจๅˆ†ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200934" ; + dcterms:source ; a owl:Class ; - rdfs:label "Caroli Disease"@en, "ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡"@ja ; + rdfs:label "Caroli disease"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใฏใคใ‹ใ‚“ใชใ„ใŸใ‚“ใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "ใ‚ซใƒญใƒช็—…"@ja ; - skos:closeMatch mondo:MONDO_0010913, mondo:MONDO_0018808 ; + rdfs:subClassOf ; + skos:altLabel "Caroli็—…"@ja, "ใ‚ซใƒญใƒช็—…"@ja ; + skos:closeMatch obo:MONDO_0010913, obo:MONDO_0018808 ; skos:prefLabel "ๅ…ˆๅคฉๆ€งๅคš็™บ่‚ๅ†…่ƒ†็ฎกๆ‹กๅผต็—‡"@ja . -:2200935 - :hasNotificationNumber "15" ; - terms:description "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ใฏ่‚ๅ†…่ƒ†็ฎกใ‚„่‚ๅค–่ƒ†็ฎกใ‚‚ใ—ใใฏไธกๆ–นใŒๆ‹กๅผตใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏๅ…ˆๅคฉ็š„ใช่ฆๅ› ใŒ่€ƒใˆใ‚‰ใ‚Œใ€ๅฐๅ…ใซๅคšใใ€็จ€ใซๆˆไบบใซใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹็š„ใชใ‚‚ใฎใฏ่‘—ใ—ใ„็ท่ƒ†็ฎกๆ‹กๅผตใŒใ‚ใ‚Šใ€ๅšข่…ซ็Šถใฎๆ‹กๅผตใ‚’็คบใ™ใ“ใจใ‚ˆใ‚Šใ€็ท่ƒ†็ฎกๅšข่…ซใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200935" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡ใฏ่‚ๅ†…่ƒ†็ฎกใ‚„่‚ๅค–่ƒ†็ฎกใ‚‚ใ—ใใฏไธกๆ–นใŒๆ‹กๅผตใ™ใ‚‹็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚็—…ๅ› ใฏๅ…ˆๅคฉ็š„ใช่ฆๅ› ใŒ่€ƒใˆใ‚‰ใ‚Œใ€ๅฐๅ…ใซๅคšใใ€็จ€ใซๆˆไบบใซใ‚‚่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ๅ…ธๅž‹็š„ใชใ‚‚ใฎใฏ่‘—ใ—ใ„็ท่ƒ†็ฎกๆ‹กๅผตใŒใ‚ใ‚Šใ€ๅšข่…ซ็Šถใฎๆ‹กๅผตใ‚’็คบใ™ใ“ใจใ‚ˆใ‚Šใ€็ท่ƒ†็ฎกๅšข่…ซใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200935" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital biliary dilatation"@en, "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡"@ja ; + rdfs:label "Congenital biliary dilatation"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŸใ‚“ใฉใ†ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่ƒ†้“ๆ‹กๅผต็—‡"@ja . -:2200936 - :hasNotificationNumber "10" ; - terms:description "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใฏใ€็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ไธ€่ฆ‹ใ™ใ‚‹ใจ่‚็กฌๅค‰ใซ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€ๅฐ่‘‰ใฎๆง‹็ฏ‰ใฏไฟใŸใ‚ŒใฆใŠใ‚Šใ€ๅ„้–€่„ˆๅŸŸ้–“ใ‚’้€ฃ็ตใ™ใ‚‹่‘—ๆ˜Žใช็ทš็ถญๅŒ–ใจ่‚ๅ†…่ƒ†็ฎกใฎๆ‹กๅผตใ€ใคใถใ‚ŒใŸ้–€่„ˆใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200936" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡ใฏใ€็—…็†ๅญฆ็š„ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚ไธ€่ฆ‹ใ™ใ‚‹ใจ่‚็กฌๅค‰ใซ้กžไผผใ—ใฆใ„ใ‚‹ใŒใ€ๅฐ่‘‰ใฎๆง‹็ฏ‰ใฏไฟใŸใ‚ŒใฆใŠใ‚Šใ€ๅ„้–€่„ˆๅŸŸ้–“ใ‚’้€ฃ็ตใ™ใ‚‹่‘—ๆ˜Žใช็ทš็ถญๅŒ–ใจ่‚ๅ†…่ƒ†็ฎกใฎๆ‹กๅผตใ€ใคใถใ‚ŒใŸ้–€่„ˆใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200936" ; + dcterms:source ; a owl:Class ; - rdfs:label "congenital hepatic fibrosis"@en, "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡"@ja ; + rdfs:label "Congenital hepatic fibrosis"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใ‚“ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "CHF"@en ; - skos:closeMatch mondo:MONDO_0005009, mondo:MONDO_0018840 ; + skos:closeMatch obo:MONDO_0018840 ; skos:prefLabel "ๅ…ˆๅคฉๆ€ง่‚็ทš็ถญ็—‡"@ja . -:2200937 - :hasNotificationNumber "9" ; - terms:description "่‚็กฌๅค‰ใฏๆ…ขๆ€ง่‚็–พๆ‚ฃใซใ‚ˆใ‚‹่‚็ดฐ่ƒžๅฃŠๆญปใŒ่‡ณใ‚‹็ต‚ๆœซๅƒใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซ่‚็ดฐ่ƒžใฎๅฃŠๆญปใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹ๅฐ่‘‰ๆ”น็ฏ‰ใ€ๅ†็”Ÿ็ต็ฏ€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚่‡“ใฎๅพช็’ฐ้šœๅฎณใจ่‚็ดฐ่ƒžใฎๆฅต็ซฏใชๆธ›ๅฐ‘ใŒๅŸบๆœฌ็š„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200937" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "่‚็กฌๅค‰ใฏๆ…ขๆ€ง่‚็–พๆ‚ฃใซใ‚ˆใ‚‹่‚็ดฐ่ƒžๅฃŠๆญปใŒ่‡ณใ‚‹็ต‚ๆœซๅƒใงใ‚ใ‚‹ใ€‚็—…็†ๅญฆ็š„ใซ่‚็ดฐ่ƒžใฎๅฃŠๆญปใจ็ทš็ถญๅŒ–ใซใ‚ˆใ‚‹ๅฐ่‘‰ๆ”น็ฏ‰ใ€ๅ†็”Ÿ็ต็ฏ€ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚่‚่‡“ใฎๅพช็’ฐ้šœๅฎณใจ่‚็ดฐ่ƒžใฎๆฅต็ซฏใชๆธ›ๅฐ‘ใŒๅŸบๆœฌ็š„็—…ๆ…‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200937" ; + dcterms:source ; a owl:Class ; - rdfs:label "Liver Cirrhosis"@en, "่‚็กฌๅค‰็—‡"@ja ; + rdfs:label "Liver cirrhosis"@en, "ใ‹ใ‚“ใ“ใ†ใธใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚็กฌๅค‰็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0005155 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005155 ; skos:prefLabel "่‚็กฌๅค‰็—‡"@ja . -:2200938 - :hasNotificationNumber "7" ; - terms:description "้–€่„ˆ่ก€ๆตใฎ็•ฐๅธธใซใฏใ€้–€่„ˆๅœงไบข้€ฒใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใจไผดใ†ใ‚‚ใฎใŒใ‚ใ‚Šใ€ไผดใ‚ใชใ„ใ‚‚ใฎใฏใ€Œ็ดฐๅˆ†้กž28. ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡ใ€ใฎ้ …ใง่ฟฐในใฆใ„ใ‚‹ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใฏ้–€่„ˆๅœงใงๅฎš็พฉใ•ใ‚Œใ‚‹ใŒ่‡จๅบŠ็š„ใซใฏๅฟ…ใšใ—ใ‚‚ๅœงๆธฌๅฎšใ‚’่ฆใ•ใชใ„ใ€‚ใ€€้–€่„ˆๅœงไบข้€ฒ็—‡ใฎใ†ใกใ€่‚็กฌๅค‰ใซใ‚ˆใ‚‰ใชใ„ใ‚‚ใฎใฏ้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆNon-cirrhotic portal hypertension, NCPH๏ผ‰ใงใ‚ใ‚‹1ใ€‚NCPHใฎใ†ใกใ€ๅฐๅ…ใงๅคšใ„ใ‚‚ใฎใฏ่‚ๅค–้–€่„ˆ้–‰ๅกž็—‡๏ผˆextrahepatic portal vein obstruction, EHPVO๏ผ‰ใงใ‚ใ‚‹ใ€‚่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใ‚’ไผดใ‚ใชใ„ใ‚‚ใฎใซใฏ็‰น็™บๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡๏ผˆidiopathic portal hypertension, IPHใพใŸใฏใƒใƒณใƒ๏ผˆBanti๏ผ‰็—‡ๅ€™็พค2๏ผ‰ใ€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚ใ€€EHPVOใฏ่‚ๅ‰ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้–€้ƒจใ‚’ๅซใ‚€่‚ๅค–้–€่„ˆใฎ้–‰ๅกžใŒใ‚ใฃใฆ้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใฃใŸ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่‚้–€้ƒจใซ็™บ้”ใ—ใŸๆฑ‚่‚ๆ€งๅดๅ‰ฏ่ก€่กŒ่ทฏใ‚’่ชใ‚ใ€ใ“ใ‚Œใ‚’ๆตท็ถฟ็Šถ่ก€็ฎกๅข—็”Ÿใจๅฝขๅฎนใ™ใ‚‹3, 4ใ€‚ใ€€IPHใฏ่‚ๅ†…ๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚ๅ†…้–€่„ˆใฎๆœซๆขขใง้–‰ๅกžใƒป็‹ญ็ช„ใ‚’ใใŸใ—้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใงๅŽŸๅ› ไธๆ˜Žใฎใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚็ต„็น”ๅญฆ็š„ใซ่‚ๅ†…้–€่„ˆใฎๆœซๆขขใซๆฝฐใ‚Œใƒป็‹ญๅฐๅŒ–ใƒป็กฌๅŒ–ๆ€งๅค‰ๅŒ–ใŒใฟใ‚‰ใ‚Œใ‚‹3, 4ใ€‚ใ€€ใƒใƒƒใƒ‰ใƒปใ‚ญใ‚ขใƒช๏ผˆBudd-Chiari๏ผ‰็—‡ๅ€™็พคใฏ่‚ๅพŒๆ€งใฎ้–€่„ˆๅœงไบข้€ฒ็—‡ใงใ‚ใ‚Šใ€่‚้™่„ˆไธปๅนนใ‚ใ‚‹ใ„ใฏ่‚้ƒจไธ‹ๅคง้™่„ˆใฎ้–‰ๅกžใ‚„็‹ญ็ช„ใ‹ใ‚‰้–€่„ˆๅœงไบข้€ฒ็—‡ใซ่‡ณใ‚‹็—‡ๅ€™็พคใ‚’ๆŒ‡ใ™3, 4ใ€‚ใ€€ไปฅไธŠใฎใปใ‹ใซใ‚‚ๅธŒๅฐ‘ใงๅคšๅฝฉใช้ž่‚็กฌๅค‰ๆ€ง้–€่„ˆๅœงไบข้€ฒ็—‡ใŒๅญ˜ๅœจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200938" ; - terms:source ; + + nando:hasNotificationNumber "18" ; + dcterms:description "้บไผๆ€งใฎ้žๆŠฑๅˆๅž‹้ซ˜ใƒ“ใƒชใƒซใƒ“ใƒณ่ก€็—‡ใฏใ€ใƒ“ใƒชใƒซใƒ“ใƒณUDP-ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธ่ปข็งป้…ต็ด ๏ผˆUGT1A1๏ผ‰ใซใ‚ˆใ‚‹ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆใŒ้šœๅฎณใ•ใ‚Œใฆ่ตทใใ‚‹ใ‚‚ใฎใจใ€ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆๅพŒใฎ่‚็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกใ€่ก€ๆธ…ใƒ“ใƒชใƒซใƒ“ใƒณๅ€คใŒ30-50๏ผˆmg/dl๏ผ‰ใจ้ซ˜ๅ€คใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใฎใŒใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค๏ผˆCN๏ผ‰ type Iใ€6-20๏ผˆmg/dl๏ผ‰ใงใ‚ใ‚‹ใ‚‚ใฎใŒtype IIใ€1-5๏ผˆmg/dl๏ผ‰็จ‹ๅบฆใพใงใงใ‚ใ‚‹ใ‚‚ใฎใŒGilbert็—‡ๅ€™็พค๏ผˆGS๏ผ‰ใงใ‚ใ‚‹1ใ€‚"@ja ; + dcterms:identifier "NANDO:2200941" ; + dcterms:source ; a owl:Class ; - rdfs:label "portal hypertension"@en, "้–€่„ˆๅœงไบข้€ฒ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Banti syndrome"@en ; - skos:closeMatch mondo:MONDO_0005080, mondo:MONDO_0021969, mondo:MONDO_0037251 ; - skos:prefLabel "้–€่„ˆๅœงไบข้€ฒ็—‡"@ja . - -:2200939 - :hasNotificationNumber "6" ; - terms:description "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡๏ผˆcongenital absence of the portal vein, CAPV๏ผ‰ใฏใ€ๅ…ˆๅคฉๆ€งใฎ้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š้–€่„ˆไฝŽๅฝขๆˆใพใŸใฏๆฌ ๆใซใ‚ˆใ‚Š้–€่„ˆ่ก€ๆตใŒ่‚ใ‚’ๅๅˆ†็Œๆตใ—ใชใ„ใ‚‚ใฎใ‚’ๆŒ‡ใ™ใ€‚1793ๅนดใซAbernethyใŒๆœ€ๅˆใฎ็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใฆใ„ใ‚‹ใ€‚1990ๅนดไปฃใ‹ใ‚‰ๆ€ฅ้€Ÿใซ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใ€CAPVใจๅŒใ˜่ก€่กŒๅ‹•ๆ…‹ใจ็—‡็Šถใ‚’็คบใ™ใ€ๅคšๅฝฉใชๅ…ˆๅคฉๆ€ง้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital portosystemic shunt, CPSS๏ผ‰ใŒ็Ÿฅใ‚‰ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸใ€‚็Ÿญ็ตก่ก€็ฎกใŒ่‚ๅค–ใซใ‚ใ‚‹ใ‹่‚ๅ†…ใซใ‚ใ‚‹ใ‹ใงๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚ใ€€่‚ๅค–ใซใ‚ใ‚‹ๅ ดๅˆใฏๅ…ˆๅคฉๆ€ง่‚ๅค–้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡๏ผˆcongenital extrahepatic portosystemic shunt, CEPS๏ผ‰ใงใ‚ใ‚Šใ€CAPVใชใ„ใ—Abernethy malformationใ‚’ๅซใ‚€ใ€‚Morganใฏ1994ๅนดใซCAPVใ‚’Type Iใ€Type IIใจๅˆ†้กžใ—ใŸ1ใ€‚Howardใฏ1997ๅนดใซCEPSใ‚’Type 1 (End-to-side)ใ€Type 2 (Side-to-side) ใจๅˆ†้กžใ—ใฆใŠใ‚Š2ใ€ไธก่€…ใฏๆฆ‚ใญไธ€่‡ดใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎKobayashiใฎๅˆ†้กž3ใ‚‚็”จใ„ใ‚‰ใ‚Œใ‚‹ใ€‚่‚ๅ†…ใซใ‚ใ‚‹ๅ ดๅˆใฏ่‚ๅ†…้–€่„ˆไฝ“ๅพช็’ฐ็Ÿญ็ตก็—‡ใงใ‚ใ‚Š1990ๅนดใซParkใŒ่จ˜่ฟฐใ—ใŸๅˆ†้กž4ใ‚’่ธ่ฅฒใ—ใ€Type 1ใ‹ใ‚‰Type 4ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚้™่„ˆ็ฎก้–‹ๅญ˜ใฏType 5 ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใใฎๅพŒใฎ่‡จๅบŠ็ ”็ฉถใซใ‚ˆใ‚ŠๅฎŸ็”จ็š„ใชๅˆ†้กžใŒๅฏ่ƒฝใซใชใ‚Šใ€็—…ๅž‹ใจ่ก“ๅผใŠใ‚ˆใณไบˆๅพŒใ‚’้–ข้€ฃใฅใ‘ใŸBlancใฎๅˆ†้กž5ใ€้–‰ๅกž่ฉฆ้จ“ๆ™‚ใฎ้–€่„ˆๅœงใซใ‚ˆใ‚‹ๅˆ†้กž6, 7ใŒใ•ใ‚Œใ€่จบๆ–ญใจๆฒป็™‚ใŒ็ตใณใคใใ‚ˆใ†ใซใชใฃใฆๆฅใŸใ€‚"@ja ; - terms:identifier "2200939" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital Absence of Portal Vein"@en, "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "ๅ…ˆๅคฉๆ€ง้–€่„ˆๆฌ ๆ็—‡"@ja . - -:2200940 - :hasNotificationNumber "8" ; - terms:description "ๅ…ˆๅคฉๆ€งใฎๅ‹•้™่„ˆ็˜ปใฎใ†ใกใ€่‚ๅ‹•่„ˆใจ้–€่„ˆ็ณปใฎใ‚ใ„ใ ใซ็Ÿญ็ตกใ‚’็”Ÿใ˜ใŸใ‚‚ใฎใ‚’่จ€ใ†ใ€‚้–€่„ˆๅœงไบข้€ฒ็—‡ใงๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200940" ; - terms:source ; - a owl:Class ; - rdfs:label "Congenital Hepatoportal Arteriovenous Fistula"@en, "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:prefLabel "้–€่„ˆใƒป่‚ๅ‹•่„ˆ็˜ป"@ja . - -:2200941 - :hasNotificationNumber "18" ; - terms:description "้บไผๆ€งใฎ้žๆŠฑๅˆๅž‹้ซ˜ใƒ“ใƒชใƒซใƒ“ใƒณ่ก€็—‡ใฏใ€ใƒ“ใƒชใƒซใƒ“ใƒณUDP-ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธ่ปข็งป้…ต็ด ๏ผˆUGT1A1๏ผ‰ใซใ‚ˆใ‚‹ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆใŒ้šœๅฎณใ•ใ‚Œใฆ่ตทใใ‚‹ใ‚‚ใฎใจใ€ใ‚ฐใƒซใ‚ฏใƒญใƒณ้…ธๆŠฑๅˆๅพŒใฎ่‚็ดฐ่ƒžๅ†…ใงใฎ่ผธ้€ใฎ็•ฐๅธธใซใ‚ˆใฃใฆ่ตทใใ‚‹ใ‚‚ใฎใŒใ‚ใ‚‹ใ€‚ๅ‰่€…ใฎใ†ใกใ€่ก€ๆธ…ใƒ“ใƒชใƒซใƒ“ใƒณๅ€คใŒ30-50๏ผˆmg/dl๏ผ‰ใจ้ซ˜ๅ€คใ‚’็คบใ™ใ‚‚ใฎใ‚‚ใฎใŒใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ๏ผˆCrigler-Najjar๏ผ‰็—‡ๅ€™็พค๏ผˆCN๏ผ‰ type Iใ€6-20๏ผˆmg/dl๏ผ‰ใงใ‚ใ‚‹ใ‚‚ใฎใŒtype IIใ€1-5๏ผˆmg/dl๏ผ‰็จ‹ๅบฆใพใงใงใ‚ใ‚‹ใ‚‚ใฎใŒGilbert็—‡ๅ€™็พค๏ผˆGS๏ผ‰ใงใ‚ใ‚‹1ใ€‚"@ja ; - terms:identifier "2200941" ; - terms:source ; - a owl:Class ; - rdfs:label "Crigler-Najjar syndrome"@en, "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:label "Crigler-Najjar syndrome"@en, "ใใ‚Šใใ‚‰ใƒผใƒปใชใ˜ใ‚ƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Crigler-Najjar็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009044 ; + skos:closeMatch obo:MONDO_0009044 ; skos:prefLabel "ใ‚ฏใƒชใ‚ฐใƒฉใƒผใƒปใƒŠใ‚ธใƒฃใƒผ็—‡ๅ€™็พค"@ja . -:2200942 - :hasNotificationNumber "31" ; - terms:description "้บไผๆ€ง่†ต็‚Žใจใฏใ€ๅบƒ็พฉใซใฏๅฎถ็ณปๅ†…ใซ2ไบบไปฅไธŠใฎๆ‚ฃ่€…ใŒใฟใ‚‰ใ‚Œใ‚‹่†ต็‚Ž๏ผˆๅฎถๆ—ๆ€ง่†ต็‚Ž๏ผ‰ใงใ‚ใฃใฆๅฐ‘ใชใใจใ‚‚๏ผ‘ไบบใซๆ—ข็Ÿฅใฎๆˆๅ› ใ‚’่ชใ‚ใชใ„ๅฎถ็ณปๅ†…้›†็ฉๆ€งใ‚’็คบใ™ๅ†็™บๆ€ง่†ต็‚Žใ‚„ๆ…ขๆ€ง่†ต็‚Žใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใ€้บไผๅญฆ็š„่จบๆ–ญๆ‰‹ๆณ•ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎๆ‚ฃ่€…ใงใฏPRSS1ใ‚„SPINK1้บไผๅญใชใฉใฎ้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใŸใ€‚ๅ‰่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒๅญค็™บไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ€ๅพŒ่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใจใ‹ใ‚‰่†ต็‚Žใฎๅฎถๆ—ๆญดใฏๅฟ…้ ˆใงใฏใชใ„ใ€‚"@ja ; - terms:identifier "2200942" ; - terms:source ; + + nando:hasNotificationNumber "31" ; + dcterms:description "้บไผๆ€ง่†ต็‚Žใจใฏใ€ๅบƒ็พฉใซใฏๅฎถ็ณปๅ†…ใซ2ไบบไปฅไธŠใฎๆ‚ฃ่€…ใŒใฟใ‚‰ใ‚Œใ‚‹่†ต็‚Ž๏ผˆๅฎถๆ—ๆ€ง่†ต็‚Ž๏ผ‰ใงใ‚ใฃใฆๅฐ‘ใชใใจใ‚‚๏ผ‘ไบบใซๆ—ข็Ÿฅใฎๆˆๅ› ใ‚’่ชใ‚ใชใ„ๅฎถ็ณปๅ†…้›†็ฉๆ€งใ‚’็คบใ™ๅ†็™บๆ€ง่†ต็‚Žใ‚„ๆ…ขๆ€ง่†ต็‚Žใ‚’ใ„ใ†ใ€‚่ฟ‘ๅนดใ€้บไผๅญฆ็š„่จบๆ–ญๆ‰‹ๆณ•ใฎ้€ฒๆญฉใซใ‚ˆใ‚Šใ€ใ“ใ‚Œใ‚‰ใฎๆ‚ฃ่€…ใงใฏPRSS1ใ‚„SPINK1้บไผๅญใชใฉใฎ้บไผๅญๅค‰็•ฐใ‚’ๆœ‰ใ™ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใฆใใŸใ€‚ๅ‰่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๅฝขๅผใ‚’ใจใ‚‹ใŒๅญค็™บไพ‹ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ“ใจใ€ๅพŒ่€…ใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๅฝขๅผใ‚’็คบใ™ใ“ใจใ‹ใ‚‰่†ต็‚Žใฎๅฎถๆ—ๆญดใฏๅฟ…้ ˆใงใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200942" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hereditary Pancreatitis"@en, "้บไผๆ€ง่†ต็‚Ž"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008185 ; + rdfs:label "Hereditary pancreatitis"@en, "ใ„ใงใ‚“ใ›ใ„ใ™ใ„ใˆใ‚“"@ja-Hira, "้บไผๆ€ง่†ต็‚Ž"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008185 ; skos:prefLabel "้บไผๆ€ง่†ต็‚Ž"@ja . -:2200943 - :hasNotificationNumber "32" ; - terms:description "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใจใฏใใฎ็™บ็—‡ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹่†ต็‚Žใงใ‚ใ‚‹๏ผŽ2002ๅนดใซๅˆใ‚ใฆใใฎ่จบๆ–ญๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œ๏ผŒใ“ใ‚Œใพใงใซๆˆไบบ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซๅคšใใฎ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใฆใ„ใ‚‹๏ผŽ่‡จๅบŠๅƒใŠใ‚ˆใณ็—…็†็ต„็น”ๅญฆ็š„ใช้•ใ„ใ‹ใ‚‰ใ€1ๅž‹ใจ2ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚1ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏใ€ใ—ใฐใ—ใฐ้–‰ๅกžๆ€ง้ป„็–ธใง็™บ็—‡ใ—ใ€็™บ็—‡ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใง็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ้ซ˜ๅบฆใชๆตธๆฝคใจ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚IgG4้–ข้€ฃ็–พๆ‚ฃใฎ่†ต็—…ๅค‰ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚2ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏๆฏ”่ผƒ็š„่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ใ—ใฐใ—ใฐ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€IgG4ไธŠๆ˜‡ใชใฉใฎ่ก€ๆธ…ๅญฆ็š„็•ฐๅธธๆ‰€่ฆ‹ใซไนใ—ใ„ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๅฅฝไธญ็ƒๆตธๆฝคใซใ‚ˆใ‚‹่†ต็ฎกไธŠ็šฎ็ ดๅฃŠๅƒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ€€1ๅž‹ใ€2ๅž‹ใจใ‚‚ใซใณใพใ‚“ๆ€ง่†ต่…ซๅคงใ€่†ต็ฎก็‹ญ็ดฐๅƒใชใฉใฎ็”ปๅƒๆ‰€่ฆ‹ใ‚’็‰นๅพดใจใ—ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ€‚1ๅž‹ใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ไพ‹ใฎ20-40%ใ€็ถญๆŒ็™‚ๆณ•ไธญใฎ20-30%ใซ่†ต็‚Žใฎๅ†็‡ƒใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้•ทๆœŸ็š„ใซใฏ่†ต่Ž็ธฎใ‚„่†ต็Ÿณใฎไฝต็™บใ‚’ไผดใ„่†ตๅค–ใƒปๅ†…ๅˆ†ๆณŒ้šœๅฎณใซ่‡ณใ‚‹ใ€‚2ๅž‹ใงใฏๅ†็‡ƒไพ‹ใฏๅฐ‘ใชใ„ใ€‚"@ja ; - terms:identifier "2200943" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใจใฏใใฎ็™บ็—‡ใซ่‡ชๅทฑๅ…็–ซๆฉŸๅบใฎ้–ขไธŽใŒ็–‘ใ‚ใ‚Œใ‚‹่†ต็‚Žใงใ‚ใ‚‹๏ผŽ2002ๅนดใซๅˆใ‚ใฆใใฎ่จบๆ–ญๅŸบๆบ–ใŒๆๅ”ฑใ•ใ‚Œ๏ผŒใ“ใ‚Œใพใงใซๆˆไบบ้ ˜ๅŸŸใ‚’ไธญๅฟƒใซๅคšใใฎ็—‡ไพ‹ใŒ่“„็ฉใ•ใ‚Œใฆใ„ใ‚‹๏ผŽ่‡จๅบŠๅƒใŠใ‚ˆใณ็—…็†็ต„็น”ๅญฆ็š„ใช้•ใ„ใ‹ใ‚‰ใ€1ๅž‹ใจ2ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚1ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏใ€ใ—ใฐใ—ใฐ้–‰ๅกžๆ€ง้ป„็–ธใง็™บ็—‡ใ—ใ€็™บ็—‡ๅนด้ฝขใฎใƒ”ใƒผใ‚ฏใฏ60ๆญณไปฃใง็”ทๆ€งใซๅฅฝ็™บใ™ใ‚‹ใ€‚็ต„็น”ๅญฆ็š„ใซใฏใƒชใƒณใƒ‘็ƒใจIgG4้™ฝๆ€งๅฝข่ณช็ดฐ่ƒžใฎ้ซ˜ๅบฆใชๆตธๆฝคใจ็ทš็ถญๅŒ–ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚IgG4้–ข้€ฃ็–พๆ‚ฃใฎ่†ต็—…ๅค‰ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚2ๅž‹่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Žใฏๆฏ”่ผƒ็š„่‹ฅๅนด่€…ใซใฟใ‚‰ใ‚Œใ€ใ—ใฐใ—ใฐ็‚Ž็—‡ๆ€ง่…ธ็–พๆ‚ฃใ‚’ๅˆไฝตใ—ใ€IgG4ไธŠๆ˜‡ใชใฉใฎ่ก€ๆธ…ๅญฆ็š„็•ฐๅธธๆ‰€่ฆ‹ใซไนใ—ใ„ใ€‚็ต„็น”ๅญฆ็š„ใซใฏๅฅฝไธญ็ƒๆตธๆฝคใซใ‚ˆใ‚‹่†ต็ฎกไธŠ็šฎ็ ดๅฃŠๅƒใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚ใ€€1ๅž‹ใ€2ๅž‹ใจใ‚‚ใซใณใพใ‚“ๆ€ง่†ต่…ซๅคงใ€่†ต็ฎก็‹ญ็ดฐๅƒใชใฉใฎ็”ปๅƒๆ‰€่ฆ‹ใ‚’็‰นๅพดใจใ—ใ€ใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ใซใ‚ˆใ‚Š่ปฝๅฟซใ™ใ‚‹ใ€‚1ๅž‹ใงใฏใ‚นใƒ†ใƒญใ‚คใƒ‰ๆฒป็™‚ไพ‹ใฎ20-40%ใ€็ถญๆŒ็™‚ๆณ•ไธญใฎ20-30%ใซ่†ต็‚Žใฎๅ†็‡ƒใŒใฟใ‚‰ใ‚Œใ‚‹ใ€‚้•ทๆœŸ็š„ใซใฏ่†ต่Ž็ธฎใ‚„่†ต็Ÿณใฎไฝต็™บใ‚’ไผดใ„่†ตๅค–ใƒปๅ†…ๅˆ†ๆณŒ้šœๅฎณใซ่‡ณใ‚‹ใ€‚2ๅž‹ใงใฏๅ†็‡ƒไพ‹ใฏๅฐ‘ใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200943" ; + dcterms:source ; a owl:Class ; - rdfs:label "Autoimmune pancreatitis"@en, "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015175 ; + rdfs:label "Autoimmune pancreatitis"@en, "ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ™ใ„ใˆใ‚“"@ja-Hira, "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015175 ; skos:prefLabel "่‡ชๅทฑๅ…็–ซๆ€ง่†ต็‚Ž"@ja . -:2200944 - :hasNotificationNumber "22" ; - terms:description "็Ÿญ่…ธ็—‡ใฏๅฐ่…ธใฎๅคง้‡ๅˆ‡้™คใซไผดใ†ๅธๅŽไธ่‰ฏใฎ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐ่…ธใฎ70-80%ใŒๅˆ‡้™คใ™ใ‚‹ใจๅŽณ้‡ใชๆ „้คŠ็ฎก็†ใ‚’่ฆใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใŠใ‘ใ‚‹็Ÿญ่…ธ็—‡ใฎๅŽŸๅ› ใจใ—ใฆใฏๅฃŠๆญปๆ€ง่…ธ็‚Žใ€ไธญ่…ธ่ปธๆป่ปขใ€ๅฐ่…ธ้–‰้Ž–ใชใฉๅ…ˆๅคฉๆ€ง่…ธ็–พๆ‚ฃใ‚„ๅค–ๅ‚ทใŒๅŽŸๅ› ใจใชใ‚‹ใ€‚ไธ‹็—ขใ€ไฝ“้‡ๆธ›ๅฐ‘ใ€่„ฑๆฐดใ€ๆ „้คŠ้šœๅฎณใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ€ๅฐๅ…ใงใฏใ—ใฐใ—ใฐๆˆ้•ท้šœๅฎณใซ้™ฅใ‚‹ใ€‚"@ja ; - terms:identifier "2200944" ; - terms:source ; + + nando:hasNotificationNumber "22" ; + dcterms:description "็Ÿญ่…ธ็—‡ใฏๅฐ่…ธใฎๅคง้‡ๅˆ‡้™คใซไผดใ†ๅธๅŽไธ่‰ฏใฎ็Šถๆ…‹ใจๅฎš็พฉใ•ใ‚Œใ‚‹ใ€‚ไธ€่ˆฌ็š„ใซๅฐ่…ธใฎ70-80%ใŒๅˆ‡้™คใ™ใ‚‹ใจๅŽณ้‡ใชๆ „้คŠ็ฎก็†ใ‚’่ฆใ™ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐๅ…ใซใŠใ‘ใ‚‹็Ÿญ่…ธ็—‡ใฎๅŽŸๅ› ใจใ—ใฆใฏๅฃŠๆญปๆ€ง่…ธ็‚Žใ€ไธญ่…ธ่ปธๆป่ปขใ€ๅฐ่…ธ้–‰้Ž–ใชใฉๅ…ˆๅคฉๆ€ง่…ธ็–พๆ‚ฃใ‚„ๅค–ๅ‚ทใŒๅŽŸๅ› ใจใชใ‚‹ใ€‚ไธ‹็—ขใ€ไฝ“้‡ๆธ›ๅฐ‘ใ€่„ฑๆฐดใ€ๆ „้คŠ้šœๅฎณใชใฉใŒ่ฆ‹ใ‚‰ใ‚Œใ€ๅฐๅ…ใงใฏใ—ใฐใ—ใฐๆˆ้•ท้šœๅฎณใซ้™ฅใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200944" ; + dcterms:source ; a owl:Class ; - rdfs:label "Short Bowel Syndrome"@en, "็Ÿญ่…ธ็—‡"@ja ; + rdfs:label "Short bowel syndrome"@en, "ใŸใ‚“ใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็Ÿญ่…ธ็—‡"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0015183 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015183 ; skos:prefLabel "็Ÿญ่…ธ็—‡"@ja . -:2200945 - :hasNotificationNumber "36" ; - terms:description "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10%็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200945" ; - terms:source ; - a owl:Class ; - rdfs:label "Hirschsprung disease"@en, "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Hirschsprung็—…"@ja ; - skos:closeMatch mondo:MONDO_0007723, mondo:MONDO_0018309 ; + + nando:hasNotificationNumber "36" ; + dcterms:description "่‚›้–€ใ‹ใ‚‰้€ฃ็ถšใ™ใ‚‹็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎใŸใ‚็”ŸๅพŒๆ•ฐๆ—ฅใฎ้–“ใซๆฉŸ่ƒฝๆ€งใฎ่…ธ้–‰ๅกž็—‡็Šถใง็™บ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚ใใฎๅพŒใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…ใจ่จบๆ–ญใ•ใ‚Œใ‚‹ใ€‚็„ก็ฅž็ตŒ็ฏ€่…ธ็ฎกใฎ็Ÿญใ„็ŸญๅŸŸๅž‹ใงใฏๅคšใใŒไนณๅ…ๆœŸใซๆ นๆฒป่ก“ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้•ทๅŸŸๅž‹ไปฅไธŠใใฎไธญใงใ‚‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใฎ็—‡ไพ‹ใฏ้‡็—‡ใงใ‚ใ‚Š้•ทๅŸŸ่…ธ็ฎก่ •ๅ‹•ไธๅ…จใฎใŸใ‚ไบบๅทฅ่‚›้–€้€ ่จญใŒๅฟ…่ฆใงใ‚ใ‚Šใ€ๆญปไบก็—‡ไพ‹ใ‚‚ๅคšใ„ใ€‚็‰นใซๅ…จ็ต่…ธไปฅไธŠใฎ็—‡ไพ‹ๆ•ฐใฏๅ…จไฝ“ใฎ10%็จ‹ๅบฆใจ็จ€ใงใ‚ใ‚‹ใŸใ‚ใซ่ชฟๆŸปใ‚‚ไธๅๅˆ†ใชใพใพ่ชฒ้กŒใจใ—ใฆๆฎ‹ใ•ใ‚Œใ€ๆฒป็™‚ๆณ•ใฎ้–‹็™บใ‚‚้…ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…จ็ต่…ธๅž‹ไปฅไธŠใซใคใ„ใฆใฏ็—‡ไพ‹ใฎ่“„็ฉใ‚’่กŒใ„ๆคœ่จŽใ™ใ‚‹ๅฟ…่ฆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200945" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hirschsprung disease"@en, "ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hirschsprung's disease"@en, "Hirschsprung็—…"@ja ; + skos:closeMatch obo:MONDO_0018309 ; skos:prefLabel "ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . -:2200946 - :hasNotificationNumber "37" ; - terms:description "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinalใ€€Pseudo-ใ€€Obstruction๏ผšCIIP๏ผ‰ใฏใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซใ€่งฃๅ‰–ๅญฆ็š„ใช่…ธ็ฎกใฎ้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›ใ€่…ธ็ฎกๆ‹กๅผตใชใฉใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆPseudo-Obstruction๏ผ‰ใซใฏใ€Hirschsprung็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใฎใ‚ˆใ†ใซๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง(Primary)ใฎใ‚‚ใฎใจ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่† ๅŽŸ็—…ใ€ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃใชใฉใฎๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง (Secondary)ใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸ็™บ็—‡ใฎๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ (Chronic Intestinal Pseudo-Obstruction: CIPO)ใฎๅคšใใฏใ€็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200946" ; - terms:source ; - a owl:Class ; - rdfs:label "chronic idiopathic intestinal pseudo-obstruction"@en, "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "37" ; + dcterms:description "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆChronic Idiopathic Intestinalใ€€Pseudo-ใ€€Obstruction๏ผšCIIP๏ผ‰ใฏใ€ๆถˆๅŒ–็ฎก้‹ๅ‹•ๆฉŸ่ƒฝ้šœๅฎณใฎใŸใ‚ใซใ€่งฃๅ‰–ๅญฆ็š„ใช่…ธ็ฎกใฎ้–‰ๅกžใŒใชใ„ใซใ‚‚ใ‹ใ‹ใ‚ใ‚‰ใšใ€่…น้ƒจ่†จๆบ€ใ€ๅ˜”ๆฐ—ใƒปๅ˜”ๅใ€่…น็—›ใ€่…ธ็ฎกๆ‹กๅผตใชใฉใฎ่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ใใŸใ™ๅŽŸๅ› ไธๆ˜Žใฎ้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆถˆๅŒ–็ฎกๅ†…ๅฎน็‰ฉใฎ่ผธ้€ใ‚’ๅฆจใ’ใ‚‹็‰ฉ็†็š„้–‰ๅกžใŒใชใ„ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€่…ธ้–‰ๅกžๆง˜็—‡็Šถใ‚’ๅ‘ˆใ—็”ปๅƒๆคœๆŸปใง่…ธ็ฎกๆ‹กๅผตใ‚„้ก้ขๅƒใ‚’่ชใ‚ใ‚‹ๅฝๆ€ง่…ธ้–‰ๅกž็—‡๏ผˆPseudo-Obstruction๏ผ‰ใซใฏใ€Hirschsprung็—…๏ผˆ่…ธ็ฎก็„ก็ฅž็ตŒ็ฏ€็—‡๏ผ‰ใฎใ‚ˆใ†ใซๆถˆๅŒ–็ฎก็—…ๅค‰ใ‚ˆใ‚‹ๅŽŸ็™บๆ€ง(Primary)ใฎใ‚‚ใฎใจ็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€่† ๅŽŸ็—…ใ€ไธญๆžข็ฅž็ตŒ็–พๆ‚ฃใชใฉใฎๅ…จ่บซ็–พๆ‚ฃใ‚„่–ฌๅ‰คใซไผดใ†็ถš็™บๆ€ง (Secondary)ใฎใ‚‚ใฎใจใŒใ‚ใ‚‹ใ€‚ๅฐๅ…ๆœŸ็™บ็—‡ใฎๆ…ขๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡ (Chronic Intestinal Pseudo-Obstruction: CIPO)ใฎๅคšใใฏใ€็‰น็™บๆ€ง๏ผˆidiopathic๏ผ‰ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200946" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic idiopathic intestinal pseudo-obstruction"@en, "ใพใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใŽใ›ใ„ใกใ‚‡ใ†ใธใ„ใใใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CIIP"@en ; + skos:closeMatch obo:MONDO_0017574 ; skos:prefLabel "ๆ…ขๆ€ง็‰น็™บๆ€งๅฝๆ€ง่…ธ้–‰ๅกž็—‡"@ja . -:2200947 - :hasNotificationNumber "34" ; - terms:description "ๆœฌ็—‡ใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พคMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผˆไปฅไธ‹MMIHS๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏ็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; - terms:identifier "2200947" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:description "ๆœฌ็—‡ใฏๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๅทจๅคง่†€่ƒฑใ€Microcolonใ‚’ๅ‘ˆใ—ใ€้‡็ฏคใชใ‚คใƒฌใ‚ฆใ‚น็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃ็พคMegacystis Microcolon Intestinal Hypoperistalsis Syndrome๏ผˆไปฅไธ‹MMIHS๏ผ‰ใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏ็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200947" ; + dcterms:source ; a owl:Class ; - rdfs:label "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome"@en, "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Megacystis-microcolon-intestinal hypoperistalsis syndrome"@en, "ใใ‚‡ใ ใ„ใผใ†ใ“ใ†ใŸใ‚“ใ—ใ‚‡ใ†ใ‘ใฃใกใ‚‡ใ†ใกใ‚‡ใ†ใ‹ใ‚“ใœใ‚“ใฉใ†ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "MMIHS"@en ; - skos:closeMatch mondo:MONDO_0007960 ; + skos:closeMatch obo:MONDO_0007960 ; skos:prefLabel "ๅทจๅคง่†€่ƒฑ็Ÿญๅฐ็ต่…ธ่…ธ็ฎก่ •ๅ‹•ไธๅ…จ็—‡"@ja . -:2200948 - :hasNotificationNumber "35" ; - terms:description "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; - terms:identifier "2200948" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ๆœฌ็—‡ใฏใ€ๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ๆถˆๅŒ–็ฎกๅฃๅ†…็ฅž็ตŒ็ฏ€็ดฐ่ƒžใฎๆธ›ๅฐ‘ใซ่ตทๅ› ใ™ใ‚‹้‡็ฏคใชๆฉŸ่ƒฝ็š„่…ธ้–‰ๅกž็—‡็Šถใ‚’ๆฅใ™็–พๆ‚ฃใงใ‚ใ‚Šใ€ไบˆๅพŒไธ่‰ฏใฎๅ…ˆๅคฉๆ€งๆถˆๅŒ–็ฎก็–พๆ‚ฃใจใ—ใฆ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฏใ€็”Ÿๅ‘ฝ็ถญๆŒใฎใŸใ‚ใซใ€ไธญๅฟƒ้™่„ˆๆ „้คŠใŒ้•ทๆœŸใซใ‚ใŸใ‚Šๅฟ…่ฆใงใ‚ใ‚Šใ€ๅฐ่…ธ็งปๆคใฎ้ฉๅฟœใซใ‚‚ใชใ‚Šๅพ—ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200948" ; + dcterms:source ; a owl:Class ; - rdfs:label "Congenital Isolated Hypoganglionosis"@en, "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Congenital Isolated Hypoganglionosis"@en, "ใกใ‚‡ใ†ใ‹ใ‚“ใ—ใ‚“ใ‘ใ„ใ›ใคใ•ใ„ใผใ†ใใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008738, obo:MONDO_0018309 ; skos:prefLabel "่…ธ็ฎก็ฅž็ตŒ็ฏ€็ดฐ่ƒžๅƒ…ๅฐ‘็—‡"@ja . -:2200949 - :hasNotificationNumber "5" ; - terms:description "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€่ฟ‘ๅนดใฎๅ›ฝ้š›ๅˆ†้กž๏ผˆInternational Society for the Study of Vascular Anomalies (ISSVA)ๅˆ†้กž๏ผ‰ใงใฏใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใŒ็„ก็—‡็Šถใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงๆญปใซ่‡ณใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็„ก็—‡็Šถใฎๅฐใ•ใช่‚่ก€็ฎก่…ซใจใฏ็•ฐใชใ‚‹็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚Œใ€ๆฌก็ฌฌใซๆ”ฏๆŒใ‚’้›†ใ‚ใคใคใ‚ใ‚‹ใ€‚ๅฎŸ้š›ใซใฏใ“ใฎใ‚ˆใ†ใช้‡็ฏคใช็ตŒ้Žใ‚’ใจใ‚‹้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ้ ปๅบฆใฏ็จ€ใงใ€ๅนณๆˆ22ๅนดๅบฆใ‚ˆใ‚ŠๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ็ ”็ฉถ็ญใŒ็ต„็น”ใ•ใ‚Œใ€ๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšใฎ่ชๅฎšๆ–ฝ่จญใ‚’ๅฏพ่ฑกใซใ“ใ‚Œใพใงใซไฝ•ๅ›žใ‹ใฎ่ชฟๆŸปใŒ่กŒใ‚ใ‚Œใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฎ่‡จๅบŠ็—‡็Šถใ‚„ๆˆ‘ใŒๅ›ฝใฎๆฒป็™‚ๅฎŸๆ…‹ใŒ่ชฟในใ‚‰ใ‚ŒใŸใ€‚ใ“ใ‚Œใพใงใฎ่ชฟๆŸป็ตๆžœใงใฏ่‚ๅ†…ใซๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่ก€็ฎก่…ซใฎใ‚ใ‚‹ใ‚‚ใฎใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ใ“ใ†ใ—ใŸ็”ปๅƒๆ‰€่ฆ‹ใซๅŠ ใˆใฆๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใชใฉใฎ็—‡็Šถใฎใ‚ใ‚‹ใ‚‚ใฎใ‚’ๆ–ฐ็”Ÿๅ…ใƒปไนณๅนผๅ…ใฎใ€Œ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ€ใจ่จบๆ–ญใ—ใฆใ€ๅฑๆ€ฅ็š„ใช็—…ๆ…‹ใซๆณจๆ„ใ™ใ‚‹ใ‚ˆใ†ใซ่ญฆ้˜ใŒใชใ‚‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200949" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "่‚่ก€็ฎก่…ซใฏๅฐๅ…ใงใ‚‚ใฃใจใ‚‚้ ปๅบฆใฎ้ซ˜ใ„่‚่…ซ็˜ใงใ€่ฟ‘ๅนดใฎๅ›ฝ้š›ๅˆ†้กž๏ผˆInternational Society for the Study of Vascular Anomalies (ISSVA)ๅˆ†้กž๏ผ‰ใงใฏใ€็ต„็น”ๅญฆ็š„ใซ่ก€็ฎกๅ†…็šฎใŒ่…ซ็˜ๆ€งใซๅข—ๆฎ–ใ—ใŸ็—…ๅค‰ใจใ€่ก€็ฎกๅฝขๆˆ็•ฐๅธธใฎไบŒ็จฎ้กžใฎ็–พๆ‚ฃ็พคใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅคšใใฎ่‚่ก€็ฎก่…ซใŒ็„ก็—‡็Šถใงใ‚ใ‚‹ใซใ‚‚้–ขใ‚ใ‚‰ใšใ€ๆ–ฐ็”Ÿๅ…ใ€ไนณๅนผๅ…ใซใฟใ‚‰ใ‚Œใ‚‹ไธ€้ƒจใฎๅทจๅคงใชใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่‚่ก€็ฎก่…ซใฏใ€้ซ˜ๆ‹ๅ‡บๆ€งๅฟƒไธๅ…จใ‚„ๅ‡ๅ›บ็•ฐๅธธใ€่…ซ็˜ๅ†…ๅ‡บ่ก€ใซใ‚ˆใ‚‹ใ‚ทใƒงใƒƒใ‚ฏใชใฉใฎ้‡็ฏคใช็—…ๆ…‹ใ‚’ๅ‘ˆใ—ใ€ๆฒป็™‚ๆŠตๆŠ—ๆ€งใงๆญปใซ่‡ณใ‚‹ใ‚‚ใฎใ‚‚ใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚่ฟ‘ๅนดใ€ใ“ใ‚Œใ‚‰ใฎไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ‚’็„ก็—‡็Šถใฎๅฐใ•ใช่‚่ก€็ฎก่…ซใจใฏ็•ฐใชใ‚‹็‹ฌ็ซ‹ใ—ใŸ็–พๆ‚ฃ็พคใจ่€ƒใˆใ‚‹ๆฆ‚ๅฟตใŒๆตทๅค–ใงๆๅ”ฑใ•ใ‚Œใ€ๆฌก็ฌฌใซๆ”ฏๆŒใ‚’้›†ใ‚ใคใคใ‚ใ‚‹ใ€‚ๅฎŸ้š›ใซใฏใ“ใฎใ‚ˆใ†ใช้‡็ฏคใช็ตŒ้Žใ‚’ใจใ‚‹้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ้ ปๅบฆใฏ็จ€ใงใ€ๅนณๆˆ22ๅนดๅบฆใ‚ˆใ‚ŠๅŽš็”ŸๅŠดๅƒ็œ้›ฃๆฒปๆ€ง็–พๆ‚ฃๅ…‹ๆœ็ ”็ฉถไบ‹ๆฅญใฎ็ ”็ฉถ็ญใŒ็ต„็น”ใ•ใ‚Œใ€ๆ—ฅๆœฌๅฐๅ…ๅค–็ง‘ๅญฆไผšใฎ่ชๅฎšๆ–ฝ่จญใ‚’ๅฏพ่ฑกใซใ“ใ‚Œใพใงใซไฝ•ๅ›žใ‹ใฎ่ชฟๆŸปใŒ่กŒใ‚ใ‚Œใ€ใ“ใฎใ‚ˆใ†ใช็—‡ไพ‹ใฎ่‡จๅบŠ็—‡็Šถใ‚„ๆˆ‘ใŒๅ›ฝใฎๆฒป็™‚ๅฎŸๆ…‹ใŒ่ชฟในใ‚‰ใ‚ŒใŸใ€‚ใ“ใ‚Œใพใงใฎ่ชฟๆŸป็ตๆžœใงใฏ่‚ๅ†…ใซๅ˜็™บๆ€งใงใฏๅพ„60mmไปฅไธŠใ€ใ‚ใ‚‹ใ„ใฏๅคš็™บๆ€งใฎ่ก€็ฎก่…ซใฎใ‚ใ‚‹ใ‚‚ใฎใŒใ—ใฐใ—ใฐ็—‡็Šถใ‚’ๅ‘ˆใ—ใฆใŠใ‚Šใ€ใ“ใ†ใ—ใŸ็”ปๅƒๆ‰€่ฆ‹ใซๅŠ ใˆใฆๅ‘ผๅธๅพช็’ฐ้šœๅฎณใ€ๅ‡ๅ›บ้šœๅฎณใชใฉใฎ็—‡็Šถใฎใ‚ใ‚‹ใ‚‚ใฎใ‚’ๆ–ฐ็”Ÿๅ…ใƒปไนณๅนผๅ…ใฎใ€Œ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใ€ใจ่จบๆ–ญใ—ใฆใ€ๅฑๆ€ฅ็š„ใช็—…ๆ…‹ใซๆณจๆ„ใ™ใ‚‹ใ‚ˆใ†ใซ่ญฆ้˜ใŒใชใ‚‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไธ€่ˆฌ็š„ใช่ก€็ฎก่…ซใซๅฏพใ™ใ‚‹ๆฒป็™‚ใจใ—ใฆใ‚นใƒ†ใƒญใ‚คใƒ‰ใชใฉใฎ่–ฌ็‰ฉ็™‚ๆณ•ใ€ๆ”พๅฐ„็ทš็…งๅฐ„ใ€่ก€็ฎกๅกžๆ “ใ€ๅค–็ง‘ๆ‰‹่ก“ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€ไฝŽๅนด้ฝขๅ…ใฎ้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซใฎ็—…ๆ…‹ใฏๅฑๆ€ฅ็š„ใงใ‚ใ‚Šใ€ๆฒป็™‚ใฏๆœช็ขบ็ซ‹ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200949" ; + dcterms:source ; a owl:Class ; - rdfs:label "giant hepatic haemangiomas"@en, "่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja ; + rdfs:label "Giant hepatic hemangiomas"@en, "ใ‹ใ‚“ใใ‚‡ใ ใ„ใ‘ใฃใ‹ใ‚“ใ—ใ‚…"@ja-Hira, "่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "critical infantile hepatic haemangioma"@en, "ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ"@ja ; + rdfs:subClassOf ; + skos:altLabel "Critical infantile hepatic haemangioma"@en, "Giant hepatic haemangiomas"@en, "ไนณๅนผๅ…้›ฃๆฒปๆ€ง่‚่ก€็ฎก่…ซ"@ja ; skos:prefLabel "่‚ๅทจๅคง่ก€็ฎก่…ซ"@ja . -:2200950 - :hasNotificationNumber "20" ; - terms:description "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่†ฃใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ6้€ฑใซ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่†ฃใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่†ฃๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200950" ; - terms:source ; + + nando:hasNotificationNumber "20" ; + dcterms:description "็ทๆŽ’ๆณ„่…”้บๆฎ‹็—‡ใฏใ€ๅฅณๅ…ใฎ็›ด่…ธ่‚›้–€ๅฅ‡ๅฝขใฎ็‰นๆฎŠๅž‹ใงใ€ๅฐฟ้“ใ€่†ฃใ€็›ด่…ธใŒ็ทๆŽ’ๆณ„่…”ใจใ„ใ†ๅ…ฑ้€š็ฎกใซๅˆๆตใ—ใ€ๅ…ฑ้€š็ฎกใฎใฟใŒไผš้™ฐ้ƒจใซ้–‹ๅฃใ™ใ‚‹็‰นๆฎŠ็จ€ๅฐ‘้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็ทๆŽ’ๆณ„่…”ใฏ่ƒŽ็”Ÿ6้€ฑใซ็›ด่…ธใจๅฐฟ่ทฏใซๅˆ†้›ขใ™ใ‚‹็ต„็น”ใงใ‚ใ‚‹ใŒใ€ใ“ใฎๅˆ†้›ข้Ž็จ‹ใŒ้šœๅฎณใ•ใ‚Œ็™บ็”Ÿใ™ใ‚‹ใ€‚็›ด่…ธ่‚›้–€ๅฝขๆˆใฎไป–ใซ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€ๅนผๅฐ‘ๆœŸใซๆ‰‹่ก“ใ•ใ‚ŒใŸ่†ฃใฏใ€้•ทๆœŸ็š„ใซ็‹ญ็ช„ใ‚„้–‰้Ž–ใชใฉใฎๅ•้กŒ็‚นใŒๅคšใใ€ๆ€ๆ˜ฅๆœŸใซๅ…ฅใฃใฆใฎใƒ–ใ‚ธใƒผใ‚„่†ฃๅฃๅฝขๆˆใชใฉใฎๆฒป็™‚ใŒๅฟ…่ฆใจใชใ‚‹ใ€‚็—…ๅž‹ใซใฏใ€variationใŒๅคšใใ€้ฉๅˆ‡ใชๆฒป็™‚ใซใฏๅ„็—‡ไพ‹ใฎ็—…ๆ…‹็†่งฃใจ็ตŒ้จ“ใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200950" ; + dcterms:source ; a owl:Class ; - rdfs:label "persistent cloaca"@en, "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Persistent cloaca"@en, "ใใ†ใฏใ„ใ›ใคใใ†ใ„ใ–ใ‚“"@ja-Hira, "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009774 ; skos:prefLabel "็ทๆŽ’ๆณ„่…”้บๆฎ‹"@ja . -:2200951 - :hasNotificationNumber "21" ; - terms:description "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡๏ผˆไปฅไธ‹ๆœฌ็—‡๏ผ‰ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏ็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่†ฃๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200951" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡๏ผˆไปฅไธ‹ๆœฌ็—‡๏ผ‰ใฏใ€็จ€ๅฐ‘้›ฃๆฒปๆ€งใฎๅ…ˆๅคฉๆ€งไธ‹่…นๅฃๅฝขๆˆ็•ฐๅธธใงใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใฎไธ‹ๆ–นไธญๅฟƒใซๅค–ๅใ—ใŸๅ›ž็›ฒ้ƒจใŒๅญ˜ๅœจใ—ใ€ใใฎไธกๅดใซไบŒๅˆ†ใ—ใŸ่†€่ƒฑใŒๅค–ๅใ—ใฆๅญ˜ๅœจใ™ใ‚‹ใ€‚้Ž–่‚›ใ‚’ๅˆไฝตใ—ๅคง่…ธใฏ็Ÿญใใ€ๅ†…ใƒปๅค–ๆ€งๅ™จ็•ฐๅธธใ€ๆฅ้ชจ้›ข้–‹ใ‚’ๆœ‰ใ—ใ€ๅคšใใฏ่…Žๅฅ‡ๅฝขใ€ไป™้ชจๅฅ‡ๅฝขใ€ไธ‹่‚ขๅฅ‡ๅฝขใ€ๆŸ“่‰ฒไฝ“็•ฐๅธธใ€่„Š้ซ„้ซ„่†œ็˜คใชใฉใ‚‚ๅˆไฝตใ™ใ‚‹ใ€‚็”ŸๅพŒใ‹ใ‚‰ไฝ•ๅ›žใ‚‚ใฎๅค–็ง‘ๆฒป็™‚ใจ้•ทๆœŸๅ…ฅ้™ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใŒใ€้ฉๅˆ‡ใชๆฒป็™‚ๆ–น้‡ใซใฏไธๆ˜Žใช้ƒจๅˆ†ใŒๅคšใ„ใ€‚ๅฅณๆ€งใฎๅ ดๅˆใ€ๅ†…ๆ€งๅ™จใฏๅŒ่ง’ใซๅˆ†้›ขใ—ๅญๅฎฎ่†ฃๅฝขๆˆใŒๅฟ…่ฆใงใ€็”ทๅ…ใงใฏใ€้™ฐๆ ธๅฝขๆˆไธๅ…จใฎใŸใ‚ๅฅณๅ…ใจใ—ใฆ่‚ฒใฆใ‚‰ใ‚Œใฆใ„ใ‚‹ไพ‹ใ‚‚ใ‚ใ‚‹ใ€‚ๆˆ้•ทใ—ใฆใ‚‚ใ€ๅค–้™ฐๅฝขๆˆใ€่†ฃๅฝขๆˆใ€่†€่ƒฑๆ‹กๅคง่ก“ใ€่…Žไธๅ…จใซใ‚ˆใ‚‹่…Ž็งปๆคใฎๅฟ…่ฆใชไพ‹ใ‚‚ๅคšใใ€ไธ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ใ‚ฑใ‚ขใŒๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200951" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cloacal extrophy"@en, "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Cloacal exstrophy"@en, "ใใ†ใฏใ„ใ›ใคใใ†ใŒใ„ใฏใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009774 ; skos:prefLabel "็ทๆŽ’ๆณ„่…”ๅค–ๅ็—‡"@ja . -:2200952 - :hasNotificationNumber "15" ; - terms:description "X้€ฃ้Ž–ๆ€งใฎ็Ÿฅ็š„้šœๅฎณใฎไธญใงใฏๆฏ”่ผƒ็š„้ ปๅบฆใŒ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹"@ja ; - terms:identifier "2200952" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "X้€ฃ้Ž–ๆ€งใฎ็Ÿฅ็š„้šœๅฎณใฎไธญใงใฏๆฏ”่ผƒ็š„้ ปๅบฆใŒ้ซ˜ใ„็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„้ก”่ฒŒใ‚„่บซไฝ“ๆ‰€่ฆ‹ใŒ่จบๆ–ญใซๆœ‰็”จใงใ‚ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200952" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coffin-Lowry syndrome"@en, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Coffin-Lowry syndrome"@en, "ใ“ใตใƒใ‚“ใƒปใ‚ใƒผใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Coffin-Lowry็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010561 ; + skos:closeMatch obo:MONDO_0010561 ; skos:prefLabel "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใƒญใƒผใƒชใƒผ็—‡ๅ€™็พค"@ja . -:2200953 - :hasNotificationNumber "22" ; - terms:description "NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅผฏใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค"@ja ; - terms:identifier "2200953" ; - terms:source ; + + nando:hasNotificationNumber "23" ; + dcterms:description "NSD1้บไผๅญใฎๆฉŸ่ƒฝ็•ฐๅธธใซใ‚ˆใ‚‹ๅคง้ ญใ€้Žๆˆ้•ทใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€็™บ้”ใฎ้…ใ‚Œใ€็—™ๆ”ฃใ€ๅฟƒ็–พๆ‚ฃใ€ๅฐฟ่ทฏ็•ฐๅธธใ€ๅดๅผฏใชใฉใ‚’ๅ‘ˆใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค"@ja ; + dcterms:identifier "NANDO:2200953" ; + dcterms:source ; a owl:Class ; - rdfs:label "Sotos syndrome"@en, "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Sotos syndrome"@en, "ใใจใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Sotos็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007299, mondo:MONDO_0019349 ; + skos:closeMatch obo:MONDO_0019349 ; skos:prefLabel "ใ‚ฝใƒˆใ‚น็—‡ๅ€™็พค"@ja . -:2200954 - :hasNotificationNumber "20" ; - terms:description "17p11.2ใฎๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็Ÿญใ„ๆŒ‡ใ€ไธญๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„ใช่กŒๅ‹•็‰นๆ€งใ€็ก็œ ้šœๅฎณใ‚’็คบใ™ใ€‚17p11.2ใซไฝ็ฝฎใ™ใ‚‹RAI1้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จใŒไธปใŸใ‚‹ๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200954" ; - terms:source ; + + nando:hasNotificationNumber "20" ; + dcterms:description "17p11.2ใฎๆฌ ๅคฑใซใ‚ˆใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚็‰นๅพด็š„ใช้ก”่ฒŒใ€็Ÿญใ„ๆŒ‡ใ€ไธญๅบฆใ‹ใ‚‰้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„ใช่กŒๅ‹•็‰นๆ€งใ€็ก็œ ้šœๅฎณใ‚’็คบใ™ใ€‚17p11.2ใซไฝ็ฝฎใ™ใ‚‹RAI1้บไผๅญใฎใƒใƒ—ใƒญไธๅ…จใŒไธปใŸใ‚‹ๅŽŸๅ› ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200954" ; + dcterms:source ; a owl:Class ; - rdfs:label "Smith-Magenis syndrome"@en, "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Smith-Magenis syndrome"@en, "ใ™ใฟใ™ใƒปใพใŽใซใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Smith-Magenis็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008434 ; + skos:closeMatch obo:MONDO_0008434 ; skos:prefLabel "ใ‚นใƒŸใ‚นใƒปใƒžใ‚ฎใƒ‹ใ‚น็—‡ๅ€™็พค"@ja . -:2200955 - :hasNotificationNumber "33" ; - terms:description "RubinsteinใจTaybi(1963ๅนด)ใŒโ€œBroad thumbs and toes and facial abnormalitiesโ€œใจ้กŒใ—ใฆใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œ๏ผŒ็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค7็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œ, Rubinstein-Taybi็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค"@ja ; - terms:identifier "2200955" ; - terms:source ; + + nando:hasNotificationNumber "34" ; + dcterms:description "RubinsteinใจTaybi(1963ๅนด)ใŒโ€œBroad thumbs and toes and facial abnormalitiesโ€œใจ้กŒใ—ใฆใ€็ฒพ็ฅž้‹ๅ‹•็™บ้”ใฎ้…ใ‚Œ๏ผŒ็‰นๅพด็š„ใช้ก”่ฒŒใ€ๅน…ๅบƒใ„ๆ‹‡ๆŒ‡่ถพใ‚’ใ‚‚ใค7็—‡ไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใŸใฎใŒๆœ€ๅˆใงใ€ไปฅๅพŒใ€ๅŒๆง˜ใฎ็—‡ไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œ, Rubinstein-Taybi็—‡ๅ€™็พคใจๅ‘ผ็งฐใ•ใ‚Œใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พค"@ja ; + dcterms:identifier "NANDO:2200955" ; + dcterms:source ; a owl:Class ; - rdfs:label "Rubinstein-Taybi syndrome"@en, "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Rubinstein-Taybi syndrome"@en, "ใ‚‹ใณใ‚“ใ—ใ‚…ใŸใ„ใ‚“ใƒปใฆใ„ใณใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Rubinstein-Taybi็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0019188 ; + skos:closeMatch obo:MONDO_0019188 ; skos:prefLabel "ใƒซใƒ“ใƒณใ‚ทใƒฅใ‚ฟใ‚คใƒณใƒปใƒ†ใ‚คใƒ“็—‡ๅ€™็พค"@ja . -:2200956 - :hasNotificationNumber "11" ; - terms:description "ๆŽจๅฎš้ ปๅบฆใ‹ใ‚‰็ฎ—ๅ‡บใ—ใŸๆŽจ่จˆ็ฝนๆ‚ฃ่€…ใฏ็ด„ 4,000ไบบ"@ja ; - terms:identifier "2200956" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "1981ๅนดใซๆˆ‘ใŒๅ›ฝใ‹ใ‚‰็™บไฟกใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผˆๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000๏ผ‰ใ€‚ใปใจใ‚“ใฉใŒๅผง็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใๅฐ‘ๆ•ฐใ€‚"@ja ; + dcterms:identifier "NANDO:2200956" ; + dcterms:source ; a owl:Class ; - rdfs:label "Kabuki syndrome"@en, "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007843, mondo:MONDO_0016512 ; + rdfs:label "Kabuki syndrome"@en, "ใ‹ใถใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016512 ; skos:prefLabel "ๆญŒ่ˆžไผŽ็—‡ๅ€™็พค"@ja . -:2200957 - :hasNotificationNumber "9" ; - terms:description "1981ๅนดใซๆˆ‘ใŒๅ›ฝใ‹ใ‚‰็™บไฟกใ—ใŸๅŽŸๅ› ไธๆ˜Žใฎๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚ๆ‚ฃ่€…ใฎๅˆ‡ใ‚Œ้•ทใฎ็›ฎใ‚’ใ‚‚ใค้ก”่ฒŒใŒๆญŒ่ˆžไผŽๅฝน่€…ใฎ้šˆๅ–ใซไผผใ‚‹ใ“ใจใ‹ใ‚‰ๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ›ฝๅ†…ๅค–ใ‹ใ‚‰็ด„400ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹๏ผˆๆŽจๅฎš็ฝน็—…็Ž‡ใฏ1/32,000๏ผ‰ใ€‚ใปใจใ‚“ใฉใŒๅผง็™บไพ‹ใงๅฎถๆ—ไพ‹ใฏๆฅตใๅฐ‘ๆ•ฐใ€‚"@ja ; - terms:identifier "2200957" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พคใฏใ€ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใ€็‰นๅพด็š„ใช้ก”่ฒŒใ€้ชจๅนด้ฝขไฟƒ้€ฒใ€่ปฝๅบฆ๏ฝžไธญ็ญ‰ๅบฆใฎ็™บ้”ใฎ้…ใ‚Œใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใปใ‹ใซใ€ๅคง้ ญ็—‡ใ€็ฒ—ใไฝŽใ„ๆณฃใๅฃฐใ€ๅฐ้กŽ็—‡ใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ขใ€ๆŒ‡ใƒปๅ››่‚ข้–ข็ฏ€ไผธๅฑ•ใƒปๆ‹˜็ธฎ๏ผŒไฝ™ๅ‰ฐ็šฎ่†šใ€็ดฐใ็ฒ—ใชๆฏ›้ซชใชใฉใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200957" ; + dcterms:source ; a owl:Class ; - rdfs:label "Weaver syndrome"@en, "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Weaver syndrome"@en, "ใ†ใƒใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Weaver็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010193 ; + skos:closeMatch obo:MONDO_0010193 ; skos:prefLabel "ใ‚ฆใ‚ฃใƒผใƒใƒผ็—‡ๅ€™็พค"@ja . -:2200958 - :hasNotificationNumber "16" ; - terms:description "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๆฟƒใ„็œ‰ๆฏ›ใ€ไธกๅด็œ‰็™’ๅˆใ€้•ทใใ‚ซใƒผใƒซใ—ใŸ็ซๆฏ›ใ€ไธŠๅ‘ใใฎ้ผปๅญ”ใ€่–„ใ„ไธŠๅฃๅ”‡ใ€้•ทใ„ไบบไธญใชใฉ๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚"@ja ; - terms:identifier "2200958" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๆฟƒใ„็œ‰ๆฏ›ใ€ไธกๅด็œ‰็™’ๅˆใ€้•ทใใ‚ซใƒผใƒซใ—ใŸ็ซๆฏ›ใ€ไธŠๅ‘ใใฎ้ผปๅญ”ใ€่–„ใ„ไธŠๅฃๅ”‡ใ€้•ทใ„ไบบไธญใชใฉ๏ผ‰ใ‚’ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใ€‚"@ja ; + dcterms:identifier "NANDO:2200958" ; + dcterms:source ; a owl:Class ; - rdfs:label "Cornelia de Lange syndrome"@en, "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Cornelia de Lange syndrome"@en, "ใ“ใ‚‹ใญใ‚Šใ‚ใƒปใงใ‚‰ใ‚“ใ’ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Cornelia de Lange็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0016033 ; + skos:closeMatch obo:MONDO_0016033 ; skos:prefLabel "ใ‚ณใƒซใƒใƒชใ‚ขใƒปใƒ‡ใƒฉใƒณใ‚ฒ็—‡ๅ€™็พค"@ja . -:2200959 - :hasNotificationNumber "28" ; - terms:description "BWSใฏใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ข(Exomphalos), ๅทจ่ˆŒ(Macroglossia), ๅทจไฝ“(Giantism)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’ๅˆใ‚ใ›ใฆEMG็—‡ๅ€™็พคใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚็ด„15๏ผ…ใฎ็—‡ไพ‹ใงWilms่…ซ็˜ใ€่‚่Šฝ็จฎใ€ๆจช็ด‹็ญ‹่‚‰่…ซใชใฉ่ƒŽๅ…ๆ€ง่…ซ็˜ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚Sotos็—‡ๅ€™็พค็ญ‰ใฎ้Žๆˆ้•ทใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆ"@ja ; - terms:identifier "2200959" ; - terms:source ; + + nando:hasNotificationNumber "29" ; + dcterms:description "BWSใฏใ€่‡ๅธฏใƒ˜ใƒซใƒ‹ใ‚ข(Exomphalos), ๅทจ่ˆŒ(Macroglossia), ๅทจไฝ“(Giantism)ใ‚’ไธ‰ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็—‡็Šถใฎ้ ญๆ–‡ๅญ—ใ‚’ๅˆใ‚ใ›ใฆEMG็—‡ๅ€™็พคใจใ‚‚ใ„ใ‚ใ‚Œใ‚‹ใ€‚็ด„15๏ผ…ใฎ็—‡ไพ‹ใงWilms่…ซ็˜ใ€่‚่Šฝ็จฎใ€ๆจช็ด‹็ญ‹่‚‰่…ซใชใฉ่ƒŽๅ…ๆ€ง่…ซ็˜ใŒ็™บ็”Ÿใ™ใ‚‹ใ€‚Sotos็—‡ๅ€™็พค็ญ‰ใฎ้Žๆˆ้•ทใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆ"@ja ; + dcterms:identifier "NANDO:2200959" ; + dcterms:source ; a owl:Class ; - rdfs:label "Beckwith-Wiedemann syndrome"@en, "ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Beckwith-Wiedemann syndrome"@en, "ในใฃใใ†ใƒใšใƒปใณใƒผใงใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Beckwith-Wiedemann็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007534 ; + skos:closeMatch obo:MONDO_0007534 ; skos:prefLabel "ใƒ™ใƒƒใ‚ฏใ‚ฆใ‚ฃใ‚บใƒปใƒดใ‚ฃใƒผใƒ‡ใƒžใƒณ็—‡ๅ€™็พค"@ja . -:2200960 - :hasNotificationNumber "1" ; - terms:description "้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ‚ใ‚Šใ€ๆ—ฅๆœฌใซใฏ3000ๅไปฅไธŠใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200960" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ใฆใ‚“ใ‹ใ‚“ใ€ๅคฑ่ชฟๆ€ง้‹ๅ‹•้šœๅฎณใ€ๅฎนๆ˜“ใซๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็ฌ‘ใ„ใชใฉใฎ่กŒๅ‹•ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚15,000ๅ‡บ็”Ÿใซไธ€ไบบใใ‚‰ใ„ใฎ้ ปๅบฆใงใ‚ใ‚Šใ€ๆ—ฅๆœฌใซใฏ3000ๅไปฅไธŠใŒๅญ˜ๅœจใ™ใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200960" ; + dcterms:source ; a owl:Class ; - rdfs:label "Angelman syndrome"@en, "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Angelman syndrome"@en, "ใ‚ใ‚“ใ˜ใ‡ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Angelman็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007113 ; + skos:closeMatch obo:MONDO_0007113 ; skos:prefLabel "ใ‚ขใƒณใ‚ธใ‚งใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja . -:2200961 - :hasNotificationNumber "2" ; - terms:description "5p-็—‡ๅ€™็พคใฏ5็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ1ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ1ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹"@ja ; - terms:identifier "2200961" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "5p-็—‡ๅ€™็พคใฏ5็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใฎ้ƒจๅˆ†ๆฌ ๅคฑใซๅŸบใฅใๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ๅ€™็พคใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ ๆœฌ็—‡ๅ€™็พคใฎ้ ปๅบฆใฏ15,000๏ฝž50,000ๅ‡บ็”Ÿใซ1ไบบใจใ•ใ‚Œใ€ใพใŸ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ‚’็คบใ™ๆ‚ฃ่€…350ไบบใซ1ไบบใฎๅ‰ฒๅˆใ‚’ๅ ใ‚ใ‚‹ใจใ•ใ‚Œใ‚‹ใ€‚ๅฐ้ ญ็—‡ใ€ๅฐ้กŽ็—‡ใ€็™บ้”ใฎ้…ใ‚Œใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200961" ; + dcterms:source ; a owl:Class ; - rdfs:label "5p- syndrome"@en, "5p-็—‡ๅ€™็พค"@ja ; + rdfs:label "5p- syndrome"@en, "5p-็—‡ๅ€™็พค"@ja, "5ใดใƒผใพใ„ใชใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007404 ; + rdfs:subClassOf ; + skos:altLabel "5p deletion syndrome"@en, "5pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007404 ; skos:prefLabel "5p-็—‡ๅ€™็พค"@ja . -:2200962 - :hasNotificationNumber "6" ; - terms:description "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ไธปๅพดใจใ™ใ‚‹"@ja ; - terms:identifier "2200962" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "๏ผ”็•ชๆŸ“่‰ฒไฝ“็Ÿญ่…•ใซไฝ็ฝฎใ™ใ‚‹้บไผๅญ็พคใฎๆฌ ๅคฑใซใ‚ˆใ‚Šๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚Šใ€้‡ๅบฆ็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€ๆˆ้•ท้šœๅฎณใ€้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ€็‰นๅพด็š„ใช่บซไฝ“ๆ‰€่ฆ‹ใ‚’ไธปๅพดใจใ™ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200962" ; + dcterms:source ; a owl:Class ; - rdfs:label "4p- Syndrome"@en, "4p-็—‡ๅ€™็พค"@ja ; + rdfs:label "4p- Syndrome"@en, "4p-็—‡ๅ€™็พค"@ja, "4ใดใƒผใพใ„ใชใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008684 ; + rdfs:subClassOf ; + skos:altLabel "4p deletion syndrome"@en, "4pๆฌ ๅคฑ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008684 ; skos:prefLabel "4p-็—‡ๅ€™็พค"@ja . -:2200963 - :hasNotificationNumber "4" ; - terms:description "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€18็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…3,500๏ฝž8,500ไบบใซ1ไบบใฎ้ ปๅบฆใง่ฆ‹ใ‚‰ใ‚Œใ€ๅฅณๅ…ใซๅคšใ„๏ผˆ็”ท๏ผšๅฅณ๏ผ๏ผ‘๏ผš๏ผ“๏ผ‰ใ€‚"@ja ; - terms:identifier "2200963" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€18็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…3,500๏ฝž8,500ไบบใซ1ไบบใฎ้ ปๅบฆใง่ฆ‹ใ‚‰ใ‚Œใ€ๅฅณๅ…ใซๅคšใ„๏ผˆ็”ท๏ผšๅฅณ๏ผ๏ผ‘๏ผš๏ผ“๏ผ‰ใ€‚"@ja ; + dcterms:identifier "NANDO:2200963" ; + dcterms:source ; a owl:Class ; - rdfs:label "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja, "Trisomy 18"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "18ใจใ‚Šใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja, "Trisomy 18"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "18 trisomy syndrome"@en, "Chromosome 18 duplication"@en, "Edwards syndrome"@en ; - skos:closeMatch mondo:MONDO_0010336, mondo:MONDO_0018071 ; + skos:closeMatch obo:MONDO_0018071 ; skos:prefLabel "18ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja . -:2200964 - :hasNotificationNumber "3" ; - terms:description "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€13็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…ใฎ5,000๏ฝž12,000ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200964" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พคใฏใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๆ•ฐๆ€งใฎๆŸ“่‰ฒไฝ“็•ฐๅธธ็—‡ใงใ€13็•ชๆŸ“่‰ฒไฝ“ๅ…จ้•ทใ‚ใ‚‹ใ„ใฏไธ€้ƒจใฎ้‡่ค‡ใซๅŸบใฅใๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๅ…ใฎ5,000๏ฝž12,000ไบบใซ1ไบบใจใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200964" ; + dcterms:source ; a owl:Class ; - rdfs:label "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja, "Trisomy 13"@en ; + rdfs:label "13ใจใ‚Šใใฟใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja, "Trisomy 13"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "13 trisomy syndrome"@en, "Patau syndrome"@en ; - skos:closeMatch mondo:MONDO_0001333, mondo:MONDO_0018068 ; + skos:closeMatch obo:MONDO_0018068 ; skos:prefLabel "13ใƒˆใƒชใ‚ฝใƒŸใƒผ็—‡ๅ€™็พค"@ja . -:2200965 - :hasNotificationNumber "5" ; - terms:description "1866ๅนด Downใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ่จ˜่ฟฐใ•ใ‚ŒใŸใ€‚1959ๅนดLejeuneใ‚‰ใซใ‚ˆใ‚Šใ€ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พคใงใฏๆŸ“่‰ฒไฝ“ใŒ47ๆœฌใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€้Žๅ‰ฐๆŸ“่‰ฒไฝ“ใŒ21็•ชๆŸ“่‰ฒไฝ“ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็œผ็žผ่ฃ‚ๆ–œไธŠใƒป้ผปๆ น้ƒจๅนณๅฆใƒปๅ†…็œผ่ง’่ด…็šฎใƒป่ˆŒใฎ็ชๅ‡บ๏ผ‰ใ€ๆ‰‹ๆŽŒๅ˜ไธ€ๅฑˆๆ›ฒ็ทšใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“ๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใ™ใ‚‹"@ja ; - terms:identifier "2200965" ; - terms:source ; + + nando:hasNotificationNumber "5" ; + dcterms:description "1866ๅนด Downใซใ‚ˆใ‚Š่‡จๅบŠ็—‡็ŠถใŒ่จ˜่ฟฐใ•ใ‚ŒใŸใ€‚1959ๅนดLejeuneใ‚‰ใซใ‚ˆใ‚Šใ€ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พคใงใฏๆŸ“่‰ฒไฝ“ใŒ47ๆœฌใงใ‚ใ‚‹ใ“ใจใŒๅ ฑๅ‘Šใ•ใ‚Œใ€้Žๅ‰ฐๆŸ“่‰ฒไฝ“ใŒ21็•ชๆŸ“่‰ฒไฝ“ใงใ‚ใ‚‹ใ“ใจใŒๆ˜Žใ‚‰ใ‹ใซใชใฃใŸใ€‚็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็œผ็žผ่ฃ‚ๆ–œไธŠใƒป้ผปๆ น้ƒจๅนณๅฆใƒปๅ†…็œผ่ง’่ด…็šฎใƒป่ˆŒใฎ็ชๅ‡บ๏ผ‰ใ€ๆ‰‹ๆŽŒๅ˜ไธ€ๅฑˆๆ›ฒ็ทšใ€็ญ‹็ทŠๅผตไฝŽไธ‹ใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๆŸ“่‰ฒไฝ“ๆคœๆŸปใซใ‚ˆใ‚Š็ขบๅฎš่จบๆ–ญใ™ใ‚‹"@ja ; + dcterms:identifier "NANDO:2200965" ; + dcterms:source ; a owl:Class ; - rdfs:label "Down syndrome"@en, "ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:label "Down syndrome"@en, "ใ ใ†ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Down็—‡ๅ€™็พค"@ja, "trisomy 21"@en ; - skos:closeMatch mondo:MONDO_0008608 ; + rdfs:subClassOf ; + skos:altLabel "Down็—‡ๅ€™็พค"@ja, "Trisomy 21"@en ; + skos:closeMatch obo:MONDO_0008608 ; skos:prefLabel "ใƒ€ใ‚ฆใƒณ็—‡ๅ€™็พค"@ja . -:2200966 - :hasNotificationNumber "7" ; - terms:description "ๅธธๆŸ“่‰ฒไฝ“๏ผˆ1๏ฝž22็•ชๆŸ“่‰ฒไฝ“๏ผ‰ใฎๆ•ฐ็š„็•ฐๅธธใƒปๆง‹้€ ็•ฐๅธธใ‚‚ใ—ใใฏใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹้ƒจไฝใฎๅคงใใ•ใ‚„้‡่ค‡ใ‚‚ใ—ใใฏๆฌ ๅคฑใชใฉ็•ฐๅธธใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€็—‡็Šถใฎ็จ‹ๅบฆใฏ็•ฐใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200966" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ๅธธๆŸ“่‰ฒไฝ“๏ผˆ1๏ฝž22็•ชๆŸ“่‰ฒไฝ“๏ผ‰ใฎๆ•ฐ็š„็•ฐๅธธใƒปๆง‹้€ ็•ฐๅธธใ‚‚ใ—ใใฏใ‚คใƒณใƒ—ใƒชใƒณใƒ†ใ‚ฃใƒณใ‚ฐ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็•ฐๅธธใŒ่ชใ‚ใ‚‰ใ‚Œใ‚‹้ƒจไฝใฎๅคงใใ•ใ‚„้‡่ค‡ใ‚‚ใ—ใใฏๆฌ ๅคฑใชใฉ็•ฐๅธธใฎ็จฎ้กžใซใ‚ˆใ‚Šใ€็—‡็Šถใฎ็จ‹ๅบฆใฏ็•ฐใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200966" ; + dcterms:source ; a owl:Class ; - rdfs:label "9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ"@ja, "Other Chromosomal abnormalities"@en ; + rdfs:label "9ใ‹ใ‚‰14ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ„ใ˜ใ‚‡ใ†"@ja-Hira, "9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ"@ja, "Other chromosomal abnormalities"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:altLabel "Autosome"@en ; skos:prefLabel "9ใ‹ใ‚‰14ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅธธๆŸ“่‰ฒไฝ“็•ฐๅธธ"@ja . -:2200967 - :hasNotificationNumber "17" ; - terms:description "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200967" ; - terms:source ; - a owl:Class ; - rdfs:label "CFC็—‡ๅ€™็พค"@ja, "Cardio-facio-cutaneuos syndrome"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "cardio-facio-cutaneous็—‡ๅ€™็พค"@ja ; + + nando:hasNotificationNumber "17" ; + dcterms:description "็ดฐ่ƒžๅ†…Ras/MAPKใ‚ทใ‚ฐใƒŠใƒซไผ้”็ตŒ่ทฏใซๅญ˜ๅœจใ™ใ‚‹้บไผๅญใฎๅ…ˆๅคฉ็š„ใช็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€่–„ใ„็œ‰ๆฏ›ใ‚„ๅด้ ญ้ƒจ็‹ญๅฐใชใฉใฎ็‰นๅพด็š„ใช้ก”ใคใใ€่„†ๅผฑใงใ‚ซใƒผใƒซใ—ใŸๆฏ›้ซชใ€ๆนฟ็–นใƒป่ง’ๅŒ–็•ฐๅธธใƒป้ญš้บŸ็™ฌใชใฉใฎ็šฎ่†š็—‡็Šถใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200967" ; + dcterms:source ; + a owl:Class ; + rdfs:label "CFC Syndrome"@en, "CFC็—‡ๅ€™็พค"@ja, "ใ—ใƒผใˆใตใ—ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Cardio-facio-cutaneuos syndrome"@en, "cardio-facio-cutaneous็—‡ๅ€™็พค"@ja, "ๅฟƒ่‡“ใƒป้ก”ใƒป็šฎ่†š็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0015280 ; skos:prefLabel "CFC็—‡ๅ€™็พค"@ja . -:2200968 - :hasNotificationNumber "29" ; - terms:description "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใŸใ™"@ja ; - terms:identifier "2200968" ; - terms:source ; + + nando:hasNotificationNumber "30" ; + dcterms:description "ๅคงๅ‹•่„ˆใ€้ชจๆ ผใ€็œผใ€่‚บใ€็šฎ่†šใ€็กฌ่†œใชใฉใฎๅ…จ่บซใฎ็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚็ตๅˆ็ต„็น”ใŒ่„†ๅผฑใซใชใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅคงๅ‹•่„ˆ็˜คใ‚„ๅคงๅ‹•่„ˆ่งฃ้›ขใ€้ซ˜่บซ้•ทใ€ๅดๅผฏ็ญ‰ใฎ้ชจๆ ผๅค‰็•ฐใ€ๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ€่‡ช็„ถๆฐ—่ƒธใชใฉใ‚’ๆฅใŸใ™"@ja ; + dcterms:identifier "NANDO:2200968" ; + dcterms:source ; a owl:Class ; - rdfs:label "Marfan syndrome"@en, "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Marfan syndrome"@en, "ใพใ‚‹ใตใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Marfan็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007947 ; + skos:closeMatch obo:MONDO_0007947 ; skos:prefLabel "ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค"@ja . -:2200969 - :hasNotificationNumber "34" ; - terms:description "ๅคงๅ‹•่„ˆ็—…ๅค‰ใ‚’ไธปใซใ€ๅฟƒ่ก€็ฎก็ณปใ€้ชจๆ ผ็ณปใ€็šฎ่†šไป–ใซใ‚‚็‰นๅพด็š„ใช็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€งใฎ้บไผๆ€ง็ตๅˆ็น”็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹ๅคงๅ‹•่„ˆใ€้ชจๆ ผ็—…ๅค‰ใ‚’ไธปๆ‰€่ฆ‹ใจใ™ใ‚‹ใŒใ€ๅฃ่“‹่ฃ‚ใƒปไบŒๅˆ†ๅฃ่“‹ๅž‚ใƒป็œผ้–“่งฃ้›ขใชใฉใฎ็‰นๅพด็š„ใช้ก”่ฒŒใ€ ๅ…จ่บซๅ‹•่„ˆใฎ่›‡่กŒใ€้ ญ่“‹้ชจๆ—ฉๆœŸ่žๅˆใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใ‚’ใ—ใฐใ—ใฐไผดใ†ใ€‚ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค๏ผˆ๏ผฌ๏ผค๏ผณ๏ผ‰ใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏใ€ ๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ‘ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ’ใ€๏ผณ๏ผญ๏ผก๏ผค๏ผ“ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ’ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ“ใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€2014ๅนดไปฅ้™ใฏๅŽŸๅ› ้บไผๅญใซใ‚ˆใฃใฆใ€ ใใ‚Œใžใ‚Œใ€๏ผฌ๏ผค๏ผณ๏ผ‘ใ€๏ผฌ๏ผค๏ผณ๏ผ’ใ€๏ผฌ๏ผค๏ผณ๏ผ“ใ€๏ผฌ๏ผค๏ผณ๏ผ”ใ€๏ผฌ๏ผค๏ผณ๏ผ•ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใซใฏๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ‚’ไผดใ‚ใชใ„ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค๏ผˆ๏ผ’ๅž‹๏ผ‰ ใจๅ‘ผใฐใ‚ŒใŸใ‚‚ใฎใ‚‚ๅซใฟใ€ใ—ใฐใ—ใฐใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; - terms:identifier "2200969" ; - terms:source ; + + nando:hasNotificationNumber "35" ; + dcterms:description "ๅคงๅ‹•่„ˆ็—…ๅค‰ใ‚’ไธปใซใ€ๅฟƒ่ก€็ฎก็ณปใ€้ชจๆ ผ็ณปใ€็šฎ่†šไป–ใซใ‚‚็‰นๅพด็š„ใช็—‡็Šถใ‚’ไผดใ†ๅ…จ่บซๆ€งใฎ้บไผๆ€ง็ตๅˆ็น”็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹ๅคงๅ‹•่„ˆใ€้ชจๆ ผ็—…ๅค‰ใ‚’ไธปๆ‰€่ฆ‹ใจใ™ใ‚‹ใŒใ€ๅฃ่“‹่ฃ‚ใƒปไบŒๅˆ†ๅฃ่“‹ๅž‚ใƒป็œผ้–“่งฃ้›ขใชใฉใฎ็‰นๅพด็š„ใช้ก”่ฒŒใ€ ๅ…จ่บซๅ‹•่„ˆใฎ่›‡่กŒใ€้ ญ่“‹้ชจๆ—ฉๆœŸ่žๅˆใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€็ฒพ็ฅž็™บ้”้…ๆปžใชใฉใ‚’ใ—ใฐใ—ใฐไผดใ†ใ€‚ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค๏ผˆ๏ผฌ๏ผค๏ผณ๏ผ‰ใฎๅŽŸๅ› ้บไผๅญใจใ—ใฆใฏใ€ ๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ‘ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผฒ๏ผ’ใ€๏ผณ๏ผญ๏ผก๏ผค๏ผ“ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ’ใ€๏ผด๏ผง๏ผฆ๏ผข๏ผ“ใŒ่ฆ‹ใคใ‹ใฃใฆใŠใ‚Šใ€2014ๅนดไปฅ้™ใฏๅŽŸๅ› ้บไผๅญใซใ‚ˆใฃใฆใ€ ใใ‚Œใžใ‚Œใ€๏ผฌ๏ผค๏ผณ๏ผ‘ใ€๏ผฌ๏ผค๏ผณ๏ผ’ใ€๏ผฌ๏ผค๏ผณ๏ผ“ใ€๏ผฌ๏ผค๏ผณ๏ผ”ใ€๏ผฌ๏ผค๏ผณ๏ผ•ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ไปฅๅ‰ใซใฏๆฐดๆ™ถไฝ“ไบœ่„ฑ่‡ผใ‚’ไผดใ‚ใชใ„ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พค๏ผˆ๏ผ’ๅž‹๏ผ‰ ใจๅ‘ผใฐใ‚ŒใŸใ‚‚ใฎใ‚‚ๅซใฟใ€ใ—ใฐใ—ใฐใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใจใฎ้‘‘ๅˆฅใŒๅฟ…่ฆใจใชใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200969" ; + dcterms:source ; a owl:Class ; - rdfs:label "Loeys-Dietz syndrome"@en, "ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018954 ; + rdfs:label "Loeys-Dietz syndrome"@en, "ใ‚ใ„ใ™ใƒปใงใƒใƒผใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018954 ; skos:prefLabel "ใƒญใ‚คใ‚นใƒปใƒ‡ใ‚ฃใƒผใƒ„็—‡ๅ€™็พค"@ja . -:2200970 - :hasNotificationNumber "12" ; - terms:description "้ ญ่“‹้ชจใƒปไธŠ่…•้ชจใƒปๅคง่…ฟ้ชจใƒป่„›้ชจใƒป่…“้ชจ็ญ‰ใฎ้Žๅ‰ฐใช่†œๅ†…้ชจๅŒ–ใซใ‚ˆใ‚‹้ชจ็šฎ่ณชใฎ่‚ฅๅŽšใจ้•ท็ฎก้ชจ้ชจๅนน้ƒจใฎ็ดก้Œ˜ๅฝข่‚ฅๅคงใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ ๅ››่‚ข็—›ใ‚’็‰นๅพดใจใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง้ชจๅนน็•ฐๅฝขๆˆ็—‡๏ผˆProgressive Diaphyseal Dysplasia๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใฎ็—‡็Šถใฏๅนผๅ…ๆœŸใจ้’ๅนดๆˆไบบๆœŸใง็•ฐใชใ‚‹ใ€‚ ๅนผๅ…ๆœŸใฏใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆ˜“็–ฒๅŠดๆ€งใ‚’ไธปๅพดใจใ—ใ€้’ๅนดๆˆไบบๆœŸใฏใ€้ชจๅนนใฎ็–ผ็—›ใ€ใ‚ใพใ„ใ€้›ฃ่ดใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200970" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "้ ญ่“‹้ชจใƒปไธŠ่…•้ชจใƒปๅคง่…ฟ้ชจใƒป่„›้ชจใƒป่…“้ชจ็ญ‰ใฎ้Žๅ‰ฐใช่†œๅ†…้ชจๅŒ–ใซใ‚ˆใ‚‹้ชจ็šฎ่ณชใฎ่‚ฅๅŽšใจ้•ท็ฎก้ชจ้ชจๅนน้ƒจใฎ็ดก้Œ˜ๅฝข่‚ฅๅคงใ€่ฟ‘ไฝ็ญ‹ใฎ็ญ‹ๅŠ›ไฝŽไธ‹ใ€ ๅ››่‚ข็—›ใ‚’็‰นๅพดใจใ™ใ‚‹้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้€ฒ่กŒๆ€ง้ชจๅนน็•ฐๅฝขๆˆ็—‡๏ผˆProgressive Diaphyseal Dysplasia๏ผ‰ใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใใฎ็—‡็Šถใฏๅนผๅ…ๆœŸใจ้’ๅนดๆˆไบบๆœŸใง็•ฐใชใ‚‹ใ€‚ ๅนผๅ…ๆœŸใฏใ€็ญ‹ๅŠ›ไฝŽไธ‹ใ€ๆ˜“็–ฒๅŠดๆ€งใ‚’ไธปๅพดใจใ—ใ€้’ๅนดๆˆไบบๆœŸใฏใ€้ชจๅนนใฎ็–ผ็—›ใ€ใ‚ใพใ„ใ€้›ฃ่ดใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200970" ; + dcterms:source ; a owl:Class ; - rdfs:label "Camurati-Engelmann disease"@en, "ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:label "Camurati-Engelmann disease"@en, "ใ‹ใ‚€ใ‚‰ใฆใƒใƒปใˆใ‚“ใ’ใ‚‹ใพใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007542 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007542 ; skos:prefLabel "ใ‚ซใƒ ใƒฉใƒ†ใ‚ฃใƒปใ‚จใƒณใ‚ฒใƒซใƒžใƒณ็—‡ๅ€™็พค"@ja . -:2200971 - :hasNotificationNumber "13" ; - terms:description "ๅ…ˆๅคฉ็š„ใช๏ผจ๏ผฒ๏ผก๏ผณ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; - terms:identifier "2200971" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "ๅ…ˆๅคฉ็š„ใช๏ผจ๏ผฒ๏ผก๏ผณ้บไผๅญใฎ็•ฐๅธธใซใ‚ˆใฃใฆใ€ๆˆ้•ทใƒป็™บ้”้šœๅฎณใ€็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œใ€็‰นๅพด็š„ใช้ก”ใคใใ€็ทฉใ„็šฎ่†šใ€ๅทปใๆฏ›ใ€ไนณ้ ญ่…ซใ€่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡ใ€ๆ‚ชๆ€ง่…ซ็˜ใฎๅˆไฝตใชใฉใŒใฟใ‚‰ใ‚Œใ‚‹้บไผๆ€ง็–พๆ‚ฃใ€‚"@ja ; + dcterms:identifier "NANDO:2200971" ; + dcterms:source ; a owl:Class ; - rdfs:label "Costello syndrome"@en, "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Costello syndrome"@en, "ใ“ใ™ใฆใ‚ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Costello็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009026 ; + skos:closeMatch obo:MONDO_0009026 ; skos:prefLabel "ใ‚ณใ‚นใƒ†ใƒญ็—‡ๅ€™็พค"@ja . -:2200972 - :hasNotificationNumber "24" ; - terms:description "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ…20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”ใฎ้…ใ‚Œใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200972" ; - terms:source ; + + nando:hasNotificationNumber "25" ; + dcterms:description "CHD7้บไผๅญใฎใƒ˜ใƒ†ใƒญๅค‰็•ฐใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚็™บ็—‡้ ปๅบฆใฏใ€ๅ‡บ็”Ÿๅ…20,000ไบบใซ๏ผ‘ไบบ็จ‹ๅบฆใซ็™บ็—‡ใ™ใ‚‹ๅธŒๅฐ‘็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚C-็ถฒ่†œใฎ้ƒจๅˆ†ๆฌ ๆ๏ผˆใ‚ณใƒญใƒœใƒผใƒž๏ผ‰ใ€H-ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใ€A-ๅพŒ้ผปๅญ”้–‰้Ž–ใ€R-ๆˆ้•ท้šœๅฎณใƒป็™บ้”ใฎ้…ใ‚Œใ€G-ๅค–้™ฐ้ƒจไฝŽๅฝขๆˆใ€E-่€ณๅฅ‡ๅฝขใƒป้›ฃ่ดใ‚’ไธป็—‡็Šถใจใ—ใ€ใ“ใ‚Œใ‚‰ใฎๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใซใ‚ˆใ‚Šๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200972" ; + dcterms:source ; a owl:Class ; - rdfs:label "CHARGE syndrome"@en, "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "CHARGE syndrome"@en, "ใกใ‚ƒใƒผใ˜ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "CHARGE็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008965 ; + skos:closeMatch obo:MONDO_0008965 ; skos:prefLabel "ใƒใƒฃใƒผใ‚ธ็—‡ๅ€™็พค"@ja . -:2200973 - :hasNotificationNumber "25" ; - terms:description "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๅฐ้กŽ็—‡ใƒป็‹ญใ„้ผปๅ ค๏ผ‰ใ€ๅ‡่กกๅž‹ไฝŽ่บซ้•ทใ€็–Žใชๆฏ›้ซชใ€ๅฐ็œผ็ƒ็—‡ใ‚„ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœ็ญ‰ใฎ็œผ็—‡็Šถใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใ€‚็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค๏ผˆoculo-mandibulo-facial syndrome๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2200973" ; - terms:source ; + + nando:hasNotificationNumber "26" ; + dcterms:description "็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆๅฐ้กŽ็—‡ใƒป็‹ญใ„้ผปๅ ค๏ผ‰ใ€ๅ‡่กกๅž‹ไฝŽ่บซ้•ทใ€็–Žใชๆฏ›้ซชใ€ๅฐ็œผ็ƒ็—‡ใ‚„ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœ็ญ‰ใฎ็œผ็—‡็Šถใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใ€‚็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค๏ผˆoculo-mandibulo-facial syndrome๏ผ‰ใจใ‚‚ใ‚ˆใฐใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200973" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hallermann-Streiff syndrome"@en, "ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค"@ja ; + rdfs:label "Hallermann-Streiff syndrome"@en, "ใฏใƒผใ‚‰ใพใ‚“ใƒปใ™ใจใ‚‰ใ„ใตใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "HSS"@en, "Hallermann-Streiff-Francois syndrome"@en ; - skos:closeMatch mondo:MONDO_0009318 ; + rdfs:subClassOf ; + skos:altLabel "HSS"@en, "Hallermann-Streiff-Francois syndrome"@en, "Oculo-mandibulo-facial syndrome"@en, "็œผใƒปไธ‹้กŽใƒป้ก”็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009318 ; skos:prefLabel "ใƒใƒผใƒฉใƒžใƒณใƒปใ‚นใƒˆใƒฉใ‚คใƒ•็—‡ๅ€™็พค"@ja . -:2200974 - :hasNotificationNumber "18" ; - terms:description "่‰ฒ็ด ๅคฑ่ชฟ็—‡ใฏใ€็šฎ่†šใ€้ซชใ€ๆญฏใ€็ˆชใ€็›ฎใ€ไธญๆžข็ฅž็ตŒใซ็—‡็ŠถใŒ็พใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช็šฎ่†š็—…ๅค‰ใฏใ€ๆฌกใฎ4ๆฎต้šŽใง้€ฒ่กŒใ™ใ‚‹ใ€‚ ็ฌฌ1ๆœŸใ€€ๆฐด็–ฑๆœŸ๏ผˆๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰4ใƒถๆœˆใพใง๏ผ‰ใ€็ฌฌ2ๆœŸใ€€็–ฃ็Šถ็™บ็–นๆœŸ๏ผˆๆ•ฐใƒถๆœˆ๏ผ‰ใ€็ฌฌ3ๆœŸใ€€ๆธฆๅทป็Šถ่‰ฒ็ด ๆฒˆ็€ๆœŸ๏ผˆ็”ŸๅพŒ6ใƒถๆœˆใ‹ใ‚‰ๆˆไบบใพใง๏ผ‰ใ€ ็ฌฌ4ๆœŸใ€€็ทš็Šถ่‰ฒ็ด ๆถˆ้€€ๆœŸใงใ‚ใ‚‹ใ€‚่„ฑๆฏ›ใ€ๆญฏ็‰™ๆฌ ๆใ€ๆญฏ็‰™ๅฝขๆ…‹็•ฐๅธธใ€็ˆชใฎๆ „้คŠ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็ถฒ่†œใฎ่ก€็ฎกๆ–ฐ็”ŸใŒไธ€้ƒจใฎ็ฝนๆ‚ฃ่€…ใซ่ฆ‹ใ‚‰ใ‚Œใ€ ็ถฒ่†œๅ‰ฅ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚็ฅž็ตŒใซใŠใ‘ใ‚‹ๆ‰€่ฆ‹ใงใฏ่ช็Ÿฅ่ƒฝๅŠ›ใฎ้…ใ‚Œใ€็Ÿฅ็š„้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200974" ; - terms:source ; - a owl:Class ; - rdfs:label "Incontinentia Pigmenti"@en, "่‰ฒ็ด ๅคฑ่ชฟ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Bloch-Sulzberger Syndrome"@en ; - skos:closeMatch mondo:MONDO_0010631 ; + + nando:hasNotificationNumber "18" ; + dcterms:description "่‰ฒ็ด ๅคฑ่ชฟ็—‡ใฏใ€็šฎ่†šใ€้ซชใ€ๆญฏใ€็ˆชใ€็›ฎใ€ไธญๆžข็ฅž็ตŒใซ็—‡็ŠถใŒ็พใ‚Œใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰นๅพด็š„ใช็šฎ่†š็—…ๅค‰ใฏใ€ๆฌกใฎ4ๆฎต้šŽใง้€ฒ่กŒใ™ใ‚‹ใ€‚ ็ฌฌ1ๆœŸใ€€ๆฐด็–ฑๆœŸ๏ผˆๅ‡บ็”Ÿๆ™‚ใ‹ใ‚‰4ใƒถๆœˆใพใง๏ผ‰ใ€็ฌฌ2ๆœŸใ€€็–ฃ็Šถ็™บ็–นๆœŸ๏ผˆๆ•ฐใƒถๆœˆ๏ผ‰ใ€็ฌฌ3ๆœŸใ€€ๆธฆๅทป็Šถ่‰ฒ็ด ๆฒˆ็€ๆœŸ๏ผˆ็”ŸๅพŒ6ใƒถๆœˆใ‹ใ‚‰ๆˆไบบใพใง๏ผ‰ใ€ ็ฌฌ4ๆœŸใ€€็ทš็Šถ่‰ฒ็ด ๆถˆ้€€ๆœŸใงใ‚ใ‚‹ใ€‚่„ฑๆฏ›ใ€ๆญฏ็‰™ๆฌ ๆใ€ๆญฏ็‰™ๅฝขๆ…‹็•ฐๅธธใ€็ˆชใฎๆ „้คŠ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็ถฒ่†œใฎ่ก€็ฎกๆ–ฐ็”ŸใŒไธ€้ƒจใฎ็ฝนๆ‚ฃ่€…ใซ่ฆ‹ใ‚‰ใ‚Œใ€ ็ถฒ่†œๅ‰ฅ้›ขใ‚’่ตทใ“ใ—ใ‚„ใ™ใ„ใ€‚็ฅž็ตŒใซใŠใ‘ใ‚‹ๆ‰€่ฆ‹ใงใฏ่ช็Ÿฅ่ƒฝๅŠ›ใฎ้…ใ‚Œใ€็Ÿฅ็š„้šœๅฎณใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200974" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Incontinentia pigmenti"@en, "ใ—ใใใ—ใฃใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "่‰ฒ็ด ๅคฑ่ชฟ็—‡"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Bloch-Sulzberger syndrome"@en ; + skos:closeMatch obo:MONDO_0010631 ; skos:prefLabel "่‰ฒ็ด ๅคฑ่ชฟ็—‡"@ja . -:2200975 - :hasNotificationNumber "8" ; - terms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200975" ; - terms:source ; - a owl:Class ; - rdfs:label "Antley-Bixler Syndrome"@en, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Antley-Bixler็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008803 ; + + nando:hasNotificationNumber "8" ; + dcterms:description "้ ญ่“‹ใƒป้ก”้ข้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆใ‚’ๆฅใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€้ ญ่“‹ใƒป้ก”้ขใฎ็•ฐๅธธใ€้ ธ้ƒจใƒปๆฐ—็ฎกใฎ็•ฐๅธธๅŠใณๅ››่‚ขใฎ็•ฐๅธธใ‚’่ชใ‚ใ€็–พๆ‚ฃใ”ใจใซ็—‡็ŠถใŒ็•ฐใชใ‚‹ใ€‚ไปฃ่กจ็š„ใช็–พๆ‚ฃใ‚’ๆŒ™ใ’ใ‚‹ใจใ‚ฏใƒซใƒผใ‚พใƒณ็—‡ๅ€™็พคใ€ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พคใ€ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พคใ€ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พคใชใฉใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200975" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antley-Bixler syndrome"@en, "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Antley-Bixler Syndrome Phenotype"@en, "Antley-Bixler็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008803 ; skos:prefLabel "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค"@ja . -:2200976 - :hasNotificationNumber "27" ; - terms:description "FGFR2้บไผๅญ๏ผˆๆ™‚ใซFGFR1้บไผๅญ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅ…ˆๅคฉ็š„ใช้ ญ่“‹้ชจใ‚„้ก”้ข้ชจ๏ผˆๅŸบๆœฌ็š„ใซไธ‹้กŽใ‚’้™คใ๏ผ‰ใฎๅฝขๆˆ็•ฐๅธธใŒใŠใ“ใ‚Šใ€่„ณใฎ็™บ้”ใŒๅฆจใ’ใ‚‰ใ‚ŒใŸใ‚Šใ€็œผ็ƒใŒ็ชๅ‡บใ—ใŸใ‚Šใ€ๅ‘ผๅธใŒ้šœๅฎณใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใ€‚ใพใŸๆ‰‹ใŠใ‚ˆใณ่ถณใฎๆŒ‡ใŒไบ’ใ„ใซ็™’ๅˆใ—ใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200976" ; - terms:source ; + + nando:hasNotificationNumber "28" ; + dcterms:description "FGFR2้บไผๅญ๏ผˆๆ™‚ใซFGFR1้บไผๅญ๏ผ‰ใฎ็•ฐๅธธใซใ‚ˆใ‚Šๅ…ˆๅคฉ็š„ใช้ ญ่“‹้ชจใ‚„้ก”้ข้ชจ๏ผˆๅŸบๆœฌ็š„ใซไธ‹้กŽใ‚’้™คใ๏ผ‰ใฎๅฝขๆˆ็•ฐๅธธใŒใŠใ“ใ‚Šใ€่„ณใฎ็™บ้”ใŒๅฆจใ’ใ‚‰ใ‚ŒใŸใ‚Šใ€็œผ็ƒใŒ็ชๅ‡บใ—ใŸใ‚Šใ€ๅ‘ผๅธใŒ้šœๅฎณใ•ใ‚ŒใŸใ‚Šใ™ใ‚‹ใ€‚ใพใŸๆ‰‹ใŠใ‚ˆใณ่ถณใฎๆŒ‡ใŒไบ’ใ„ใซ็™’ๅˆใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200976" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pfeiffer syndrome"@en, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Pfeiffer syndrome"@en, "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Pfeiffer็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0005810, mondo:MONDO_0007043 ; + skos:closeMatch obo:MONDO_0005810, obo:MONDO_0007043 ; skos:prefLabel "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค"@ja . -:2200977 - :hasNotificationNumber "14" ; - terms:description "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200977" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค๏ผˆCoffin-Siris็—‡ๅ€™็พค๏ผ‰ใฏใ€1970ๅนดใซCoffinใจSirisใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚Šใ€้‡ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใ€ๆˆ้•ท้šœๅฎณใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ็–Žใช้ ญ้ซชใ€ๆฟƒใ„็œ‰ใจ็ซๆฏ›ใ€ๅŽšใ„ๅฃๅ”‡ใชใฉ๏ผ‰ใ€ๆ‰‹่ถณใฎ็ฌฌ๏ผ•ๆŒ‡ใฎ็ˆชๅŠใณๆœซ็ฏ€้ชจใฎ็„ก๏ฝžไฝŽๅฝขๆˆใ‚’ไธปๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200977" ; + dcterms:source ; a owl:Class ; - rdfs:label "Coffin-Siris syndrome"@en, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Coffin-Siris syndrome"@en, "ใ“ใตใƒใ‚“ใƒปใ—ใ‚Šใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Coffin-Siris็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007617, mondo:MONDO_0015452 ; + skos:closeMatch obo:MONDO_0015452 ; skos:prefLabel "ใ‚ณใƒ•ใ‚ฃใƒณใƒปใ‚ทใƒชใ‚น็—‡ๅ€™็พค"@ja . -:2200978 - :hasNotificationNumber "19" ; - terms:description "Simpson-Golabi-Behmel ็—‡ๅ€™็พค๏ผˆSGS๏ผ‰ใฏใ€ ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใจ็‰น็•ฐ้ก”่ฒŒใ€ๅคš็™บๅฅ‡ๅฝขใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๅคš็™บๅฅ‡ๅฝขใฏใ€ๅคšๆŒ‡ใ€็ˆชใฎไฝŽๅฝขๆˆใ€ๅฃ่“‹่ฃ‚ใ€ๅฟƒๅฅ‡ๅฝขใ€ๅ‰ฏไนณใ€้ผ ๅพ„ใƒ˜ใƒซใƒ‹ใ‚ขใชใฉใ‚’ไผดใ†ใ€‚็Ÿฅ่ƒฝใฏไธ€่ˆฌใซๆญฃๅธธใ€‚ใพใŸใ€Wilms ่…ซ็˜ใ€่‚่Šฝ่…ซใชใฉใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚"@ja ; - terms:identifier "2200978" ; - terms:source ; - a owl:Class ; - rdfs:label "Simpson-Golabi-Behmel syndrome"@en, "ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "Simpson-Golabi-Behmel็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010731 ; + + nando:hasNotificationNumber "19" ; + dcterms:description "Simpson-Golabi-Behmel ็—‡ๅ€™็พค๏ผˆSGS๏ผ‰ใฏใ€ ๅ‡บ็”Ÿๅ‰ใ‹ใ‚‰ใฎ้Žๆˆ้•ทใจ็‰น็•ฐ้ก”่ฒŒใ€ๅคš็™บๅฅ‡ๅฝขใ‚’ไธปๅพดใจใ™ใ‚‹ใ€‚ๅคš็™บๅฅ‡ๅฝขใฏใ€ๅคšๆŒ‡ใ€็ˆชใฎไฝŽๅฝขๆˆใ€ๅฃ่“‹่ฃ‚ใ€ๅฟƒๅฅ‡ๅฝขใ€ๅ‰ฏไนณใ€้ผ ๅพ„ใƒ˜ใƒซใƒ‹ใ‚ขใชใฉใ‚’ไผดใ†ใ€‚็Ÿฅ่ƒฝใฏไธ€่ˆฌใซๆญฃๅธธใ€‚ใพใŸใ€Wilms ่…ซ็˜ใ€่‚่Šฝ่…ซใชใฉใฎ่ƒŽๅ…ๆ€ง่…ซ็˜ใฎ็™บ็”Ÿใƒชใ‚นใ‚ฏใŒ้ซ˜ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200978" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Simpson-Golabi-Behmel syndrome"@en, "ใ—ใ‚“ใทใใ‚“ใƒปใ”ใ‚‰ใณใƒปในใƒผใ‚ใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SGBS"@en, "SGS"@en, "Simpson-Golabi-Behmel็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010731 ; skos:prefLabel "ใ‚ทใƒณใƒ—ใ‚ฝใƒณใƒปใ‚ดใƒฉใƒ“ใƒปใƒ™ใƒผใƒกใƒซ็—‡ๅ€™็พค"@ja . -:2200979 - :hasNotificationNumber "21" ; - terms:description "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พคใฏใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅˆๆˆใฎๆœ€็ต‚ๆฎต้šŽใงใ‚ใ‚‹7-ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ้‚„ๅ…ƒ้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹DHCR7้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใฎไฝŽไธ‹ใฏ็ดฐ่ƒž่†œใฎๆง‹ๆˆใ‚„ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎ็•ฐๅธธใ‚’ใใŸใ—ใ€ๅ…จ่บซๆ€งใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆๆˆ้•ท้šœๅฎณใ€ๅฐ้ ญ็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅค–ๆ€งๅ™จ็•ฐๅธธ๏ผˆ็”ทๅ…๏ผ‰ใ€ๅˆ่ถพ็ญ‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‹ใ‚‰็”Ÿๆˆใ•ใ‚Œใ‚‹ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณใ‚„ๆ€งใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใฎใŸใ‚ใ€ไบŒๆฌก็š„ใชๅ‰ฏ่…Žใƒปๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚Šใ€่ฃœๅ……็™‚ๆณ•ใ‚’่ฆใ™ใ‚‹ใ€‚้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚Šใ€ๆˆไบบๅพŒใ‚‚่ปฝๅฟซใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚"@ja ; - terms:identifier "2200979" ; - terms:source ; + + nando:hasNotificationNumber "21" ; + dcterms:description "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พคใฏใ€ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซๅˆๆˆใฎๆœ€็ต‚ๆฎต้šŽใงใ‚ใ‚‹7-ใƒ‡ใƒ’ใƒ‰ใƒญใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ้‚„ๅ…ƒ้…ต็ด ใ‚’ใ‚ณใƒผใƒ‰ใ™ใ‚‹DHCR7้บไผๅญใฎๅค‰็•ฐใซใ‚ˆใฃใฆใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใŒไฝŽไธ‹ใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Š็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ็”ฃ็”ŸใฎไฝŽไธ‹ใฏ็ดฐ่ƒž่†œใฎๆง‹ๆˆใ‚„ใ‚นใƒ†ใƒญใ‚คใƒ‰ใƒ›ใƒซใƒขใƒณๅˆๆˆใฎ็•ฐๅธธใ‚’ใใŸใ—ใ€ๅ…จ่บซๆ€งใฎๅคšๅฝฉใช็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็‰นๅพด็š„ใช็—‡็Šถใจใ—ใฆๆˆ้•ท้šœๅฎณใ€ๅฐ้ ญ็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€็‰นๅพด็š„้ก”่ฒŒใ€ๅฃ่“‹่ฃ‚ใ€ๅค–ๆ€งๅ™จ็•ฐๅธธ๏ผˆ็”ทๅ…๏ผ‰ใ€ๅˆ่ถพ็ญ‰ใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‹ใ‚‰็”Ÿๆˆใ•ใ‚Œใ‚‹ๅ‰ฏ่…Ž็šฎ่ณชใƒ›ใƒซใƒขใƒณใ‚„ๆ€งใƒ›ใƒซใƒขใƒณใฎๅˆๆˆ้šœๅฎณใฎใŸใ‚ใ€ไบŒๆฌก็š„ใชๅ‰ฏ่…Žใƒปๆ€ง่…บๆฉŸ่ƒฝไฝŽไธ‹ใŒใ‚ใ‚Šใ€่ฃœๅ……็™‚ๆณ•ใ‚’่ฆใ™ใ‚‹ใ€‚้…ต็ด ๆฌ ๆ็—‡ใซใ‚ˆใ‚‹ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซไปฃ่ฌ็•ฐๅธธ็—‡ใงใ‚ใ‚Šใ€ๆˆไบบๅพŒใ‚‚่ปฝๅฟซใ™ใ‚‹ใ“ใจใฏใชใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2200979" ; + dcterms:source ; a owl:Class ; - rdfs:label "Smith-Lemli-Opitz syndrome"@en, "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Smith-Lemli-Opitz syndrome"@en, "ใ™ใฟใ™ใƒปใ‚Œใ‚€ใ‚ŠใƒปใŠใดใฃใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Smith-Lemli-Opitz็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0010035 ; + skos:closeMatch obo:MONDO_0010035 ; skos:prefLabel "ใ‚นใƒŸใ‚นใƒปใƒฌใƒ ใƒชใƒปใ‚ชใƒ”ใƒƒใƒ„็—‡ๅ€™็พค"@ja . -:2200980 - :hasNotificationNumber "30" ; - terms:description "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200980" ; - terms:source ; - a owl:Class ; - rdfs:label "Moebius syndrome"@en, "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Moebius็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0008006 ; + + nando:hasNotificationNumber "31" ; + dcterms:description "ใƒกใƒ“ใ‚ฆใ‚น๏ผˆ1888๏ผ‰ใŒ็–พๆ‚ฃๅ˜ไฝใจใ—ใฆ็ขบ็ซ‹ใ—ใŸ็–พๆ‚ฃใงใ€ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บใ‚’็‰นๅพดใจใ™ใ‚‹ใŒใ€ไป–ใฎ่„ณ็ฅž็ตŒ้บป็—บใ‚„ๅ››่‚ขๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉๆ€ง้ก”้ข็ฅž็ตŒ้บป็—บใจๅ…ˆๅคฉๆ€งๅค–่ปข็ฅž็ตŒ้บป็—บ๏ผˆ็‰‡ๅดๆ€งใ‚‚ๅซใ‚€ใ€‚๏ผ‰ใ‚’ไผดใ„ใ€ไป–ใฎ็ฅž็ตŒ็ญ‹็–พๆ‚ฃใ‚’ๅŽŸๅ› ใจใ—ใชใ„ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ๅคšใใฏๅญค็™บไพ‹ใงใ‚ใ‚‹ใŒใ€30ๅฎถ็ณปใปใฉใฎๅฎถๆ—ไพ‹ใฎๅ ฑๅ‘ŠใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200980" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Moebius syndrome"@en, "ใ‚ใณใ†ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Moebius็—‡ๅ€™็พค"@ja, "Mรถbius syndrome"@en ; + skos:closeMatch obo:MONDO_0008006 ; skos:prefLabel "ใƒกใƒ“ใ‚ฆใ‚น็—‡ๅ€™็พค"@ja . -:2200981 - :hasNotificationNumber "31" ; - terms:description "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200981" ; - terms:source ; + + nando:hasNotificationNumber "32" ; + dcterms:description "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ๏ผˆMowat-Wilson๏ผ‰็—‡ๅ€™็พคใฏใ€็‰นๅพด็š„้ก”่ฒŒใ€้‡ๅบฆใ‹ใ‚‰ไธญ็ญ‰ๅบฆใฎ็Ÿฅ็š„้šœๅฎณใจๅฐ้ ญ็—‡ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚่ปขๅ†™ๅ› ๅญใงใ‚ใ‚‹ZEB2๏ผˆๅˆฅๅใ€ZFHX1Bใ€SIP1๏ผ‰้บไผๅญใฎ็‰‡ๅดใฎใ‚ขใƒชใƒซใฎๆฉŸ่ƒฝๅ–ชๅคฑๅž‹ๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚้€šๅธธใ€็™บ่ชžใฏ่ฆ‹ใ‚‰ใ‚Œใšใ€ๆญฉ่กŒ้–‹ๅง‹ใ‚‚๏ผ“ๆญณไปฅ้™ใงใ‚ใ‚‹ใ€‚ใฆใ‚“ใ‹ใ‚“ใ€ๅทจๅคง็ต่…ธ็—‡ใ€ๅ…ˆๅคฉๆ€งๅฟƒ็–พๆ‚ฃใชใฉใฎๅˆไฝตใŒ่ฆ‹ใ‚‰ใ‚Œใ‚‹ใ€‚้ฃŸไบ‹ใ€ๆŽ’ใ›ใคใชใฉๆ—ฅๅธธ็”Ÿๆดปใฎไป‹่ญทใŒ็ต‚่บซๅฟ…่ฆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200981" ; + dcterms:source ; a owl:Class ; - rdfs:label "Mowat-Wilson syndrome"@en, "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Mowat-Wilson syndrome"@en, "ใ‚‚ใ‚ใฃใจใƒปใ†ใƒใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Mowat-Wilson็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009341 ; + skos:closeMatch obo:MONDO_0009341 ; skos:prefLabel "ใƒขใƒฏใƒƒใƒˆใƒปใ‚ฆใ‚ฃใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:2200982 - :hasNotificationNumber "32" ; - terms:description "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2200982" ; - terms:source ; + + nando:hasNotificationNumber "33" ; + dcterms:description "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ๏ผˆYoung-Simpson๏ผ‰็—‡ๅ€™็พคใฏใ€๏ผ‘๏ผ‰็‰นๅพด็š„ใช้ก”่ฒŒใ€๏ผ’๏ผ‰็ฒพ็ฅž็™บ้”ใฎ้…ใ‚Œ๏ผšไธญ็ญ‰ๅบฆใ‹ใ‚‰้‡ๅบฆใ€๏ผ“๏ผ‰็œผ็—‡็Šถ๏ผš็œผ็žผ่ฃ‚็‹ญๅฐใ‚’ๅฟ…้ ˆใจใ—ใฆไป˜้šใ™ใ‚‹ๅผฑ่ฆ–ใƒป้ผปๆถ™็ฎก้–‰ๅกžใชใฉใ€๏ผ”๏ผ‰้ชจๆ ผ็•ฐๅธธ๏ผšๅ†…ๅ่ถณใชใฉใ€๏ผ•๏ผ‰ๅ†…ๅˆ†ๆณŒๅญฆ็š„็•ฐๅธธ๏ผš็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹็—‡ใ€๏ผ–๏ผ‰ๅค–ๆ€งๅ™จ็•ฐๅธธใ€ใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใƒ’ใ‚นใƒˆใƒณใ‚ขใ‚ปใƒใƒซๅŒ–้…ต็ด KAT6Bใฎ็•ฐๅธธใ‚’ๅŽŸๅ› ใจใ™ใ‚‹ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พๅœจใพใง30ไพ‹่ฟ‘ใใฎๅ ฑๅ‘ŠใŒ็ขบ่ชใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็พŠๆฐด้Žๅคšใ€ๆ–ฐ็”Ÿๅ…ๆœŸใฎๅ“บไนณไธ่‰ฏใชใฉใ€ๆ—ฉๆœŸใ‹ใ‚‰็”Ÿๆถฏใซใ‚ใŸใฃใฆใฎๅŒป็™‚็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚ๅ›ฝๅ†…ใงใ‚‚ใ€้บไผๅญฆ็š„ๆคœๆŸปใŒๅฏ่ƒฝใจใชใ‚Šใ€ๅค‰็•ฐ้™ฝๆ€งไพ‹ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200982" ; + dcterms:source ; a owl:Class ; - rdfs:label "Young-Simpson syndrome"@en, "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Young-Simpson syndrome"@en, "ใ‚„ใ‚“ใใƒปใ—ใ‚“ใทใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Young-Simpson็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0011365, mondo:MONDO_0017393 ; + skos:closeMatch obo:MONDO_0011365 ; skos:prefLabel "ใƒคใƒณใ‚ฐใƒปใ‚ทใƒณใƒ—ใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:2200983 - :hasNotificationNumber "26" ; - terms:description "VATER ็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ•ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER ็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200983" ; - terms:source ; + + nando:hasNotificationNumber "27" ; + dcterms:description "VATER ็—‡ๅ€™็พคใฏใ€๏ผถ๏ผๆคŽไฝ“็•ฐๅธธใ€A๏ผ่‚›้–€ๅฅ‡ๅฝขใ€TE๏ผๆฐ—็ฎก้ฃŸ้“็˜ปใ€R๏ผๆฉˆ้ชจๅฅ‡ๅฝขๅŠใณ่…Žๅฅ‡ๅฝขใจใ„ใ†๏ผ•ๅพดๅ€™ใฎ้ ญๆ–‡ๅญ—ใฎ็ต„ใฟๅˆใ‚ใ›ใงๅ‘ฝๅใ•ใ‚Œใฆใ„ใ‚‹ใ€‚VATER ็—‡ๅ€™็พคใซใŠใ„ใฆใ€ๅคš็ณป็ตฑใซใ‚ใŸใ‚‹ๅ…ˆๅคฉ็•ฐๅธธใŒ็™บ็—‡ใ™ใ‚‹ๆฉŸๅบใฏไธๆ˜Žใงใ‚ใ‚‹ใ€‚็•ฐๅธธใ‚’ๆŒใค่‡“ๅ™จใฎ็™บ็”Ÿๆ™‚ๆœŸใฎๅคšใใŒใ€ๅŽŸ่…ธๅฝขๆˆๆœŸใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ใ“ใฎๆ™‚ๆœŸใซ่ƒšใฎๅบƒใ„็ฏ„ๅ›ฒใซ้šœๅฎณใŒ่ตทใใฆใ„ใ‚‹ใจๆŽจๆธฌใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใซๅฏพใ—ใฆๅค–็ง‘็š„ๆฒป็™‚ใ‚’้€ฒใ‚ใ‚‹ใจใจใ‚‚ใซใ€ๆˆ้•ท็™บ้”ใฎใƒ•ใ‚ฉใƒญใƒผใŒๅฟ…้ ˆใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200983" ; + dcterms:source ; a owl:Class ; - rdfs:label "VATER syndrome"@en, "VATER็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008642 ; + rdfs:label "VATER syndrome"@en, "VATER็—‡ๅ€™็พค"@ja, "ใฐใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผใตใใƒผใŸใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008642 ; skos:prefLabel "VATER็—‡ๅ€™็พค"@ja . -:2200984 - :hasNotificationNumber "10" ; - terms:description "ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้€ฒ่กŒๆ€ง็—™ๆ€ง้šœๅฎณใ€ๅๅพฉๆ€งๆ„ŸๆŸ“็—‡๏ผˆๅ‘ผๅธๅ™จใ‚„ๅฐฟ่ทฏใชใฉ๏ผ‰ใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใŒใชใ„ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใจ็™‚่‚ฒใซ้ ผใ‚‰ใ–ใ‚‹ใ‚’ๅพ—ใชใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅˆไฝตใŒ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰่ตทใ“ใ‚‹ๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใ‚’ใฏใ˜ใ‚ใจใ—ใŸใ•ใพใ–ใพใชๆ„ŸๆŸ“็—‡ใฏๆ—ฅๅธธ็”Ÿๆดปใ‚’่‘—ใ—ใๅˆถ้™ใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ๆ„ŸๆŸ“็—‡ใ‚„ๆถˆๅŒ–ๅ™จ็—‡็Šถใซๅฏพใ™ใ‚‹ๅฏพ็—‡็™‚ๆณ•ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™ๆ„ŸๆŸ“็—‡ใŒ็”Ÿๅ‘ฝไบˆๅพŒใซ้–ข้€ฃใ™ใ‚‹ใ€‚"@ja ; - terms:identifier "2200984" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ไนณๅ…ๆœŸๆ—ฉๆœŸใ‹ใ‚‰ใฎ็ญ‹็ทŠๅผตไฝŽไธ‹ใ€้‡ๅบฆใฎ็ฒพ็ฅž้‹ๅ‹•็™บ้”้…ๆปžใ€้€ฒ่กŒๆ€ง็—™ๆ€ง้šœๅฎณใ€ๅๅพฉๆ€งๆ„ŸๆŸ“็—‡๏ผˆๅ‘ผๅธๅ™จใ‚„ๅฐฟ่ทฏใชใฉ๏ผ‰ใŠใ‚ˆใณ้›ฃๆฒปๆ€งใฆใ‚“ใ‹ใ‚“ใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็พๅœจใ€ๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใŒใชใ„ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใจ็™‚่‚ฒใซ้ ผใ‚‰ใ–ใ‚‹ใ‚’ๅพ—ใชใ„ใ€‚ใฆใ‚“ใ‹ใ‚“ใฎๅˆไฝตใŒ็ฅž็ตŒๅญฆ็š„ไบˆๅพŒใซๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆŠ—ใฆใ‚“ใ‹ใ‚“่–ฌๆฒป็™‚ใŒ่กŒใ‚ใ‚Œใ‚‹ใŒใ€้›ฃๆฒปใซ็ตŒ้Žใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใ‹ใ‚‰่ตทใ“ใ‚‹ๅ‘ผๅธๅ™จๆ„ŸๆŸ“็—‡ใ‚’ใฏใ˜ใ‚ใจใ—ใŸใ•ใพใ–ใพใชๆ„ŸๆŸ“็—‡ใฏๆ—ฅๅธธ็”Ÿๆดปใ‚’่‘—ใ—ใๅˆถ้™ใ™ใ‚‹ใ€‚ใ“ใ‚Œใ‚‰ๆ„ŸๆŸ“็—‡ใ‚„ๆถˆๅŒ–ๅ™จ็—‡็Šถใซๅฏพใ™ใ‚‹ๅฏพ็—‡็™‚ๆณ•ใชใฉใŒ่กŒใ‚ใ‚Œใ‚‹ใ€‚็นฐใ‚Š่ฟ”ใ™ๆ„ŸๆŸ“็—‡ใŒ็”Ÿๅ‘ฝไบˆๅพŒใซ้–ข้€ฃใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200984" ; + dcterms:source ; a owl:Class ; - rdfs:label "MECP2 duplication syndrome"@en, "MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค"@ja ; + rdfs:label "MECP2 duplication syndrome"@en, "MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค"@ja, "ใˆใ‚€ใ„ใƒผใ—ใƒผใดใƒผ2ใกใ‚‡ใ†ใตใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010283 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010283 ; skos:prefLabel "MECP๏ผ’้‡่ค‡็—‡ๅ€™็พค"@ja . -:2200985 - :hasNotificationNumber "23" ; - terms:description "ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟไฝŽไธ‹็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€ๅฑˆๆŒ‡ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็‰นๅพด็š„้ก”่ฒŒใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€้ƒจใฎๆ‚ฃ่€…ใซใฏใ€็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใ€ๅๅพฉๆ„ŸๆŸ“็—‡ใ€ใƒชใƒณใƒ‘ๆตฎ่…ซใ€ใ‚’่ชใ‚ใ‚‹ใ€‚CDC42้บไผๅญใซใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๆ–ฐ็”Ÿ็ช็„ถๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚CDC42ใฏใ€็ดฐ่ƒžๅ‘จๆœŸใฎ่ชฟ็ฏ€ใ‚„็ดฐ่ƒž้ชจๆ ผใฎๅฝขๆˆ็ถญๆŒใซ้‡่ฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅคšๅฝฉใช็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใฏใ€ๅฐๅ…ๆœŸไปฅ้™ใ‚‚่ปฝๅฟซใ›ใšใ€ๆˆไบบๆœŸไปฅ้™ใ‚‚ๆŒ็ถšใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๆญฆๅ†…ใŠใ‚ˆใณๅฐๅดŽใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2200985" ; - terms:source ; + + nando:hasNotificationNumber "24" ; + dcterms:description "ๅทจๅคง่ก€ๅฐๆฟๆ€ง่ก€ๅฐๆฟไฝŽไธ‹็—‡ใ€็Ÿฅ็š„้šœๅฎณใ€ๅฑˆๆŒ‡ใ€ๆ„Ÿ้Ÿณๆ€ง้›ฃ่ดใ€็‰นๅพด็š„้ก”่ฒŒใ‚’็‰นๅพดใจใ™ใ‚‹ๅ…ˆๅคฉ็•ฐๅธธ็—‡ๅ€™็พคใงใ‚ใ‚‹ใ€‚ไธ€้ƒจใฎๆ‚ฃ่€…ใซใฏใ€็”ฒ็Šถ่…บๆฉŸ่ƒฝไฝŽไธ‹ใ€ๅๅพฉๆ„ŸๆŸ“็—‡ใ€ใƒชใƒณใƒ‘ๆตฎ่…ซใ€ใ‚’่ชใ‚ใ‚‹ใ€‚CDC42้บไผๅญใซใƒ˜ใƒ†ใƒญๆŽฅๅˆๆ€งใฎๆ–ฐ็”Ÿ็ช็„ถๅค‰็•ฐใ‚’่ชใ‚ใ‚‹ใ€‚CDC42ใฏใ€็ดฐ่ƒžๅ‘จๆœŸใฎ่ชฟ็ฏ€ใ‚„็ดฐ่ƒž้ชจๆ ผใฎๅฝขๆˆ็ถญๆŒใซ้‡่ฆใงใ‚ใ‚‹ใ“ใจใ‹ใ‚‰ใ€ๅคšๅฝฉใช็—‡็ŠถใŒๅผ•ใ่ตทใ“ใ•ใ‚Œใ‚‹ใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็—‡็Šถใฏใ€ๅฐๅ…ๆœŸไปฅ้™ใ‚‚่ปฝๅฟซใ›ใšใ€ๆˆไบบๆœŸไปฅ้™ใ‚‚ๆŒ็ถšใ™ใ‚‹ใ€‚ใ‚ใŒๅ›ฝใฎๆญฆๅ†…ใŠใ‚ˆใณๅฐๅดŽใ‚‰ใซใ‚ˆใ‚Šๅ ฑๅ‘Šใ•ใ‚ŒใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2200985" ; + dcterms:source ; a owl:Class ; - rdfs:label "Takenouchi-Kosaki syndrome"@en, "ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค"@ja ; + rdfs:label "Takenouchi-Kosaki syndrome"@en, "ใŸใ‘ใฎใ†ใกใƒปใ“ใ•ใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0014757 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0014757 ; skos:prefLabel "ๆญฆๅ†…ใƒปๅฐๅดŽ็—‡ๅ€™็พค"@ja . -:2200986 - :hasNotificationNumber "1" ; - terms:description "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆoculocutaneous albinism; OCA ๏ผ‰ใฏใ€ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ใฏๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใงใ‚ใ‚Šใ€้’๏ฝž็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€็™ฝ๏ฝž่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็œผใฎ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็šฎ่†š็—‡็ŠถใŒๅˆค็„ถใจใ›ใšใ€็œผใฎ็—‡็Šถใฎใฟใฎใ‚‚ใฎใฏ็œผ็™ฝ็šฎ็—‡๏ผˆocular albinism๏ผ›OA๏ผ‰ใจใ„ใ†ใ€‚ๅ…จใฆใฎOCAใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚OAใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’็—‡ๅ€™ๅž‹๏ผˆsyndromic albinism๏ผ‰ใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ็—‡ๅ€™ๅž‹ใซใฏใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’็คบใ™Hermansky-Pudlak syndrome๏ผˆHPS๏ผ‰, ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใจๅ…็–ซไธๅ…จใ‚’ไผดใ†Chรฉdiak-Higashi syndrome๏ผˆCHS๏ผ‰, CHSใซ่‡จๅบŠ็—‡็Šถใฏ้กžไผผใ™ใ‚‹ใŒ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใ‚’ๆŒใŸใชใ„Griscelli syndrome๏ผˆGS๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ใจใ‚‚ใชใ‚ใชใ„ใ‚ฟใ‚คใƒ—ใ‚’้ž็—‡ๅ€™ๅž‹๏ผˆnon-syndromic albinism๏ผ‰ใจๅ‘ผใถใ€‚้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ7็จฎ้กžใ€็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ13็จฎ้กžใ€่จˆ20็จฎ้กžใฎๅŽŸๅ› ้บไผๅญ๏ผˆ้บไผๅญๅบงใ‚’ๅซใ‚€๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1๏ผ‰ใ€‚่กจ๏ผ‘๏ผŽ็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎ็—…ๅ› ้บไผๅญใซใ‚ˆใ‚‹ๅˆ†้กž"@ja ; - terms:identifier "2200986" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "็œผ็šฎ่†š็™ฝ็šฎ็—‡๏ผˆoculocutaneous albinism; OCA ๏ผ‰ใฏใ€ๅ‡บ็”Ÿๆ™‚ใ‚ˆใ‚Š็šฎ่†šใ€ๆฏ›้ซชใ€็œผใฎใƒกใƒฉใƒ‹ใƒณๅˆๆˆใŒไฝŽไธ‹ใชใ„ใ—ใฏๆถˆๅคฑใ™ใ‚‹ใ“ใจใซใ‚ˆใ‚Šใ€ๅ…จ่บซ็šฎ่†šใŒ็™ฝ่‰ฒ่ชฟใงใ‚ใ‚Šใ€้’๏ฝž็ฐ่‰ฒ่ชฟใฎ่™นๅฝฉใ€็™ฝ๏ฝž่Œถ่ค่‰ฒใ‚ใ‚‹ใ„ใฏ้Š€่‰ฒใฎ้ ญ้ซชใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚็œผใฎ็—‡็Šถใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใ€‚็šฎ่†š็—‡็ŠถใŒๅˆค็„ถใจใ›ใšใ€็œผใฎ็—‡็Šถใฎใฟใฎใ‚‚ใฎใฏ็œผ็™ฝ็šฎ็—‡๏ผˆocular albinism๏ผ›OA๏ผ‰ใจใ„ใ†ใ€‚ๅ…จใฆใฎOCAใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใงใ‚ใ‚‹ใ€‚OAใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ไผดใ†็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’็—‡ๅ€™ๅž‹๏ผˆsyndromic albinism๏ผ‰ใจใ—ใฆใพใจใ‚ใ‚‰ใ‚Œใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ใ“ใฎ็—‡ๅ€™ๅž‹ใซใฏใ€ๅ‡บ่ก€ๅ‚พๅ‘ใ‚’็คบใ™Hermansky-Pudlak syndrome๏ผˆHPS๏ผ‰, ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใจๅ…็–ซไธๅ…จใ‚’ไผดใ†Chรฉdiak-Higashi syndrome๏ผˆCHS๏ผ‰, CHSใซ่‡จๅบŠ็—‡็Šถใฏ้กžไผผใ™ใ‚‹ใŒ็™ฝ่ก€็ƒๅทจๅคง้ก†็ฒ’ใ‚’ๆŒใŸใชใ„Griscelli syndrome๏ผˆGS๏ผ‰ใŒๅซใพใ‚Œใ‚‹ใ€‚ๅ…จ่บซ็—‡็Šถใ‚’ใจใ‚‚ใชใ‚ใชใ„ใ‚ฟใ‚คใƒ—ใ‚’้ž็—‡ๅ€™ๅž‹๏ผˆnon-syndromic albinism๏ผ‰ใจๅ‘ผใถใ€‚้ž็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ7็จฎ้กžใ€็—‡ๅ€™ๅž‹็œผ็šฎ่†š็™ฝ็šฎ็—‡ใจใ—ใฆใฏ13็จฎ้กžใ€่จˆ20็จฎ้กžใฎๅŽŸๅ› ้บไผๅญ๏ผˆ้บไผๅญๅบงใ‚’ๅซใ‚€๏ผ‰ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹๏ผˆ่กจ1๏ผ‰ใ€‚่กจ๏ผ‘๏ผŽ็œผ็šฎ่†š็™ฝ็šฎ็—‡ใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใฎ็—…ๅ› ้บไผๅญใซใ‚ˆใ‚‹ๅˆ†้กž"@ja ; + dcterms:identifier "NANDO:2200986" ; + dcterms:source ; a owl:Class ; - rdfs:label "oculocutaneous albinism"@en, "็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Oculocutaneous albinism"@en, "ใŒใ‚“ใฒใตใฏใใฒใ—ใ‚‡ใ†"@ja-Hira, "็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "OCA"@en, "ๅ…ˆๅคฉๆ€ง็™ฝ็šฎ็—‡"@ja ; - skos:closeMatch mondo:MONDO_0018910 ; + skos:closeMatch obo:MONDO_0018910 ; skos:prefLabel "็œผ็šฎ่†š็™ฝ็šฎ็—‡"@ja . -:2200987 - :hasNotificationNumber "4" ; - terms:description "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใซใฏ็†ฑๅ‚ทใ‚’ๆ€ใ‚ใ›ใ‚‹ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใ€็ด…็šฎ็—‡ใŒใฟใ‚‰ใ‚Œใ€ใใฎๅพŒใ‚‚ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใ‚’ไธญๅฟƒใซๅผ›็ทฉๆ€งๆฐด็–ฑใจๆต…ใ„ใณใ‚‰ใ‚“ใฎๅฝขๆˆใŒๅๅพฉใ™ใ‚‹[1]-[3]ใ€‚"@ja ; - terms:identifier "2200987" ; - terms:source ; - a owl:Class ; - rdfs:label "keratinopathic ichthyosis"@en, "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "epidermolytic ichthyosis and superficial epidermolytic ichthyos"@en ; - skos:closeMatch mondo:MONDO_0017266 ; + + nando:hasNotificationNumber "5" ; + dcterms:description "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใ€‚ๅ‡บ็”Ÿๆ™‚ใซใฏ็†ฑๅ‚ทใ‚’ๆ€ใ‚ใ›ใ‚‹ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใ€็ด…็šฎ็—‡ใŒใฟใ‚‰ใ‚Œใ€ใใฎๅพŒใ‚‚ๆฉŸๆขฐ็š„ๅˆบๆฟ€ใ‚’ๅ—ใ‘ใ‚‹้ƒจไฝใ‚’ไธญๅฟƒใซๅผ›็ทฉๆ€งๆฐด็–ฑใจๆต…ใ„ใณใ‚‰ใ‚“ใฎๅฝขๆˆใŒๅๅพฉใ™ใ‚‹[1]-[3]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200987" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Keratinopathic ichthyosis"@en, "ใ‘ใ‚‰ใกใ‚“ใ—ใ‚‡ใ†ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017266 ; skos:prefLabel "ใ‚ฑใƒฉใƒใƒณ็—‡ๆ€ง้ญš้ฑ—็™ฌ"@ja . -:2200988 - :hasNotificationNumber "4" ; - terms:identifier "2200988" ; - terms:source ; - a owl:Class ; - rdfs:label "Autosomal dominant epidermolytic ichthyosis"@en, "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007239, mondo:MONDO_0020702 ; - skos:prefLabel "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅ„ชๆ€ง๏ผ‰"@ja . - -:2200989 - :hasNotificationNumber "4" ; - terms:identifier "2200989" ; - terms:source ; - a owl:Class ; - rdfs:label "Autosomal recessive epidermolytic ichthyosis"@en, "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅŠฃๆ€ง๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0044742 ; - skos:prefLabel "่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ๏ผˆๅŠฃๆ€ง๏ผ‰"@ja . - -:2200990 - :hasNotificationNumber "4" ; - terms:identifier "2200990" ; - terms:source ; - a owl:Class ; - rdfs:label "superficial epidermolytic ichthyos"@en, "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2200988" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autosomal dominant epidermolytic ichthyosis"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0020702 ; + skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2200989" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autosomal recessive epidermolytic ichthyosis"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0044742 ; + skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2200990" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Superficial epidermolytic ichthyosis"@en, "ใฒใ‚‡ใ†ใ–ใ„ใ›ใ„ใฒใ‚‡ใ†ใฒใ‚†ใ†ใ‹ใ„ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007813 ; skos:prefLabel "่กจๅœจๆ€ง่กจ็šฎ่ž่งฃๆ€ง้ญš้ฑ—็™ฌ"@ja . -:2200991 - :hasNotificationNumber "6" ; - terms:description "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใŒใ€ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใฏไผดใ‚ใชใ„ใ€‚ใ“ใฎ็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ้กžไผผใ—ใŸ่‡จๅบŠ็—‡็Šถใจ้บไผๅญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใ‚’ใพใจใ‚ใŸๆฆ‚ๅฟตใงใ‚ใ‚‹ใŸใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ[1][2]ใ€‚"@ja ; - terms:identifier "2200991" ; - terms:source ; + + nando:hasNotificationNumber "7" ; + dcterms:description "ๆฝฎ็ด…ใ€็ด…็šฎ็—‡ใ‚’ไผดใ†้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใฎ๏ผ‘ใคใงใ‚ใ‚‹ใŒใ€ๆฐด็–ฑๅฝขๆˆใ€่กจ็šฎๅ‰ฅ้›ขใฏไผดใ‚ใชใ„ใ€‚ใ“ใฎ็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผใฎ้กžไผผใ—ใŸ่‡จๅบŠ็—‡็Šถใจ้บไผๅญ็•ฐๅธธใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใ‚’ใพใจใ‚ใŸๆฆ‚ๅฟตใงใ‚ใ‚‹ใŸใ‚ใ€ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌใจๅ‘ผใฐใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใŸ[1][2]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200991" ; + dcterms:source ; a owl:Class ; - rdfs:label "autosomal recessive congenital ichthyosis"@en, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017265 ; + rdfs:label "Autosomal recessive congenital ichthyosis"@en, "ใ˜ใ‚‡ใ†ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚Œใฃใ›ใ„ใ„ใงใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017265 ; skos:prefLabel "ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผๆ€ง้ญš้ฑ—็™ฌ"@ja . -:2200992 - :hasNotificationNumber "7" ; - terms:description "ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€ๅ‡บ็”Ÿๆ™‚ใซใฏใ€ใ™ใงใซๅ…จ่บซใŒๅŽšใ„ๆฟ็Šถใฎ่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†šใฎๆทฑใ„ไบ€่ฃ‚ใ€็œผ็žผๅค–ๅใ€ๅฃๅ”‡ใฎ็ชๅ‡บใƒป้–‹ๅฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใฎ้ญš้ฑ—็™ฌใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹[1][2]ใ€‚"@ja ; - terms:identifier "2200992" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ๅ…ˆๅคฉ็š„็•ฐๅธธใซใ‚ˆใ‚Š่ƒŽๅ…ใฎๆ™‚ใ‹ใ‚‰็šฎ่†šใฎ่กจ้ขใฎ่ง’ๅฑคใŒ้žๅธธใซๅŽšใใชใ‚Šใ€ๅ‡บ็”Ÿๆ™‚ใซใฏใ€ใ™ใงใซๅ…จ่บซใŒๅŽšใ„ๆฟ็Šถใฎ่ง’่ณชใซ่ฆ†ใ‚ใ‚Œใฆใ„ใ‚‹ใ€‚็šฎ่†šใฎๆทฑใ„ไบ€่ฃ‚ใ€็œผ็žผๅค–ๅใ€ๅฃๅ”‡ใฎ็ชๅ‡บใƒป้–‹ๅฃใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใ€‚ๆœ€้‡็—‡ๅž‹ใฎ้ญš้ฑ—็™ฌใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹[1][2]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200992" ; + dcterms:source ; a owl:Class ; - rdfs:label "harlequin ichthyosis"@en, "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009443 ; + rdfs:label "Harlequin ichthyosis"@en, "ใฉใ†ใ‘ใ—ใ‚ˆใ†ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009443 ; skos:prefLabel "้“ๅŒ–ๅธซๆง˜้ญš้ฑ—็™ฌ"@ja . -:2200993 - :hasNotificationNumber "8" ; - terms:description "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๆฏ›้ซชใฎ็•ฐๅธธใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็–พๆ‚ฃใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1]ใ€‚"@ja ; - terms:identifier "2200993" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๆฏ›้ซชใฎ็•ฐๅธธใ€ใ‚ขใƒˆใƒ”ใƒผๆ€ง็–พๆ‚ฃใฎๅˆไฝตใ‚’็‰นๅพดใจใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200993" ; + dcterms:source ; a owl:Class ; - rdfs:label "Netherton syndrome"@en, "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Netherton syndrome"@en, "ใญใ–ใƒผใจใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; skos:altLabel "Netherton็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0009735 ; + skos:closeMatch obo:MONDO_0009735 ; skos:prefLabel "ใƒใ‚ถใƒผใƒˆใƒณ็—‡ๅ€™็พค"@ja . -:2200994 - :hasNotificationNumber "5" ; - terms:description "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซใ€ๅ››่‚ขใฎ็—™ๆ€ง้บป็—บใ€ใชใ‚‰ใณใซ็ฒพ็ฅž้…ๆปžใ‚’ๅˆไฝตใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1][2]ใ€‚"@ja ; - terms:identifier "2200994" ; - terms:source ; - a owl:Class ; - rdfs:label "Sjogren-Larsson syndrome"@en, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:altLabel "Sjogren-Larsson็—‡ๅ€™็พค"@ja, "Sjรถgren-Larsson syndrome"@en ; - skos:closeMatch mondo:MONDO_0010031 ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซใ€ๅ››่‚ขใฎ็—™ๆ€ง้บป็—บใ€ใชใ‚‰ใณใซ็ฒพ็ฅž้…ๆปžใ‚’ๅˆไฝตใ™ใ‚‹้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฎ๏ผ‘ใคใงใ‚ใ‚‹[1][2]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200994" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sjรถgren-Larsson syndrome"@en, "ใ—ใ‡ใƒผใใ‚Œใ‚“ใƒปใ‚‰ใ‚‹ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Sjogren-Larsson syndrome"@en, "Sjรถgren-Larsson็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0010031 ; skos:prefLabel "ใ‚ทใ‚งใƒผใ‚ฐใƒฌใƒณใƒปใƒฉใƒซใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:2200995 - :hasNotificationNumber "9" ; - terms:description "ๅ…จ่บซ็šฎ่†šใซๆง˜ใ€…ใชๅŽšใ•ใฎ้ฑ—ๅฑ‘ใ€้ญš้ฑ—็™ฌใ‚’็”Ÿใ˜ใ‚‹้บไผๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ใ€‚็šฎ่†šใฎ็™บ่ตค(ๆฝฎ็ด…ใ€็ด…็šฎ็—‡)ใฎ็จ‹ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎไธปใชใ‚‚ใฎใซใฏใ€5.Netherton็—‡ๅ€™็พคใ€‘ใ€ใ€6.Sjรถgren-Larsson็—‡ๅ€™็พคใ€‘ไปฅๅค–ใฎ้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฏใ€้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๅŠ ใˆใฆๆง˜ใ€…ใชไป–่‡“ๅ™จ็—‡็Šถใ‚’ไผดใ†ใ‚‚ใฎใงใ‚ใ‚Šใ€็šฎ่†š็ง‘็š„ใชๆฒป็™‚ใซๅŠ ใˆใ€ๅˆไฝตใ™ใ‚‹่‡“ๅ™จ็—‡็Šถใซๅฟœใ˜ใฆๅฐๅ…็ง‘ใ€็œผ็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€็ฒพ็ฅž็ง‘ใชใฉใฎๅฐ‚้–€้ ˜ๅŸŸใงใฎๅฏพๅฟœใ‚‚ๅฟ…่ฆใจใชใ‚‹ใ€‚ใ€€ไปฃ่กจ็š„ใชใ‚‚ใฎใจใ—ใฆใ€KID็—‡ๅ€™็พคใ€Dorfman-Chanarin็—‡ๅ€™็พคใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚KID็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€Dorfman-Chanarin็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹[1]-[5]ใ€‚"@ja ; - terms:identifier "2200995" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ๅ…จ่บซ็šฎ่†šใซๆง˜ใ€…ใชๅŽšใ•ใฎ้ฑ—ๅฑ‘ใ€้ญš้ฑ—็™ฌใ‚’็”Ÿใ˜ใ‚‹้บไผๆ€ง่ง’ๅŒ–็•ฐๅธธ็—‡ใ€‚็šฎ่†šใฎ็™บ่ตค(ๆฝฎ็ด…ใ€็ด…็šฎ็—‡)ใฎ็จ‹ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๆœฌ็–พๆ‚ฃใฎไธปใชใ‚‚ใฎใซใฏใ€5.Netherton็—‡ๅ€™็พคใ€‘ใ€ใ€6.Sjรถgren-Larsson็—‡ๅ€™็พคใ€‘ไปฅๅค–ใฎ้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใŒๅซใพใ‚Œใ‚‹ใ€‚้ญš้ฑ—็™ฌ็—‡ๅ€™็พคใฏใ€้‡็—‡ใฎๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌใซๅŠ ใˆใฆๆง˜ใ€…ใชไป–่‡“ๅ™จ็—‡็Šถใ‚’ไผดใ†ใ‚‚ใฎใงใ‚ใ‚Šใ€็šฎ่†š็ง‘็š„ใชๆฒป็™‚ใซๅŠ ใˆใ€ๅˆไฝตใ™ใ‚‹่‡“ๅ™จ็—‡็Šถใซๅฟœใ˜ใฆๅฐๅ…็ง‘ใ€็œผ็ง‘ใ€ๆ•ดๅฝขๅค–็ง‘ใ€็ฒพ็ฅž็ง‘ใชใฉใฎๅฐ‚้–€้ ˜ๅŸŸใงใฎๅฏพๅฟœใ‚‚ๅฟ…่ฆใจใชใ‚‹ใ€‚ใ€€ไปฃ่กจ็š„ใชใ‚‚ใฎใจใ—ใฆใ€KID็—‡ๅ€™็พคใ€Dorfman-Chanarin็—‡ๅ€™็พคใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใชใฉใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚KID็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€Dorfman-Chanarin็—‡ๅ€™็พคใฏๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใฎ้บไผๅฝขๅผใฎ็–พๆ‚ฃใงใ‚ใ‚Šใ€ใพใŸใ€CHILD็—‡ๅ€™็พคใ€IFAP็—‡ๅ€™็พคใฏไผดๆ€งๅŠฃๆ€ง้บไผๆ€งใฎ็–พๆ‚ฃใงใ‚ใ‚‹[1]-[5]ใ€‚"@ja ; + dcterms:identifier "NANDO:2200995" ; + dcterms:source ; a owl:Class ; - rdfs:label "2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja, "Other congenital ichthyoses"@en ; + rdfs:label "2ใ‹ใ‚‰6ใพใงใซใ‹ใ‹ใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ใ›ใ‚“ใฆใ‚“ใ›ใ„ใŽใ‚‡ใ‚Šใ‚“ใ›ใ‚“"@ja-Hira, "2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja, "Other congenital ichthyoses"@en ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; skos:prefLabel "2ใ‹ใ‚‰6ใพใงใซๆŽฒใ’ใ‚‹ใ‚‚ใฎใฎใปใ‹ใ€ๅ…ˆๅคฉๆ€ง้ญš้ฑ—็™ฌ"@ja . -:2200996 - :hasNotificationNumber "9" ; - terms:identifier "2200996" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200996" ; + dcterms:source ; a owl:Class ; - rdfs:label "KID็—‡ๅ€™็พค"@ja, "keratitis-ichthyosis-deafness syndrome"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "KID็—‡ๅ€™็พค"@ja, "Keratitis-ichthyosis-deafness syndrome"@en, "ใ‘ใƒผใ‚ใ„ใงใƒใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "KID syndrome"@en ; + skos:closeMatch obo:MONDO_0018781 ; skos:prefLabel "KID็—‡ๅ€™็พค"@ja . -:2200997 - :hasNotificationNumber "9" ; - terms:identifier "2200997" ; - terms:source ; - a owl:Class ; - rdfs:label "Dorfman-Chanarin syndrome"@en, "Dorfman-Chanarin็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "neutral lipid storage disease"@en ; - skos:closeMatch mondo:MONDO_0010155, mondo:MONDO_0015611 ; - skos:prefLabel "Dorfman-Chanarin็—‡ๅ€™็พค"@ja . - -:2200998 - :hasNotificationNumber "9" ; - terms:identifier "2200998" ; - terms:source ; - a owl:Class ; - rdfs:label "CHILD็—‡ๅ€™็พค"@ja, "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010621 ; + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200997" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dorfman-Chanarin syndrome"@en, "ใฉใ‚‹ใตใพใ‚“ใƒปใ—ใ‚ƒใชใ‚Šใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Chanarin-Dorfman Syndrome"@en, "Dorfman-Chanarin็—‡ๅ€™็พค"@ja, "Neutral lipid storage disease"@en ; + skos:closeMatch obo:MONDO_0010155, obo:MONDO_0015611 ; + skos:prefLabel "ใƒ‰ใƒซใƒ•ใƒžใƒณใƒปใ‚ทใƒฃใƒŠใƒชใƒณ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200998" ; + dcterms:source ; + a owl:Class ; + rdfs:label "CHILD syndrome"@en, "CHILD็—‡ๅ€™็พค"@ja, "ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital hemidysplasia with ichthyosiform nevus and limb defects"@en ; + skos:closeMatch obo:MONDO_0010621 ; skos:prefLabel "CHILD็—‡ๅ€™็พค"@ja . -:2200999 - :hasNotificationNumber "9" ; - terms:identifier "2200999" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2200999" ; + dcterms:source ; a owl:Class ; - rdfs:label "IFAP็—‡ๅ€™็พค"@ja, "Ichthyosis-follicularis-atrichia-photophobia syndrome"@en ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0010624 ; + rdfs:label "IFAP็—‡ๅ€™็พค"@ja, "Ichthyosis-follicularis-atrichia-photophobia syndrome"@en, "ใ‚ใ„ใˆใตใˆใƒผใดใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "IFAP syndrome"@en, "Ichthyosis follicularis, alopecia, and photophobia syndrome"@en ; + skos:closeMatch obo:MONDO_0100213 ; skos:prefLabel "IFAP็—‡ๅ€™็พค"@ja . -:2201000 - :hasNotificationNumber "12" ; - terms:description "ๅนณๆˆ๏ผ–ๅนดใซๅฎŸๆ–ฝใ—ใŸๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใซใ‚ˆใ‚‹ใจใ€ๅ…จๅ›ฝๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ500๏ฝž640ไบบใ€‚ๆ€งๆฏ”ใฏ็”ทๅฅณใปใผๅŒๆ•ฐใ€ๅนด้ฝขๅˆฅใงใฏ๏ผ•ๆญณๆœชๆบ€ใŒๆœ€ใ‚‚ๅคšใ22๏ผ…ใ€‚็™บ็—‡ๅนด้ฝขใฏ็ด„๏ผ™ๅ‰ฒใŒ๏ผ‘ๆญณๆœชๆบ€ใ€‚็—…ๅž‹ๅˆฅใงใฏ(1)ๅ˜็ด”ๅž‹ใ€€32๏ผ…(2)ๆŽฅๅˆ้ƒจๅž‹ใ€€7๏ผ…(3)ๅ„ชๆ€งใจๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€€ใใ‚Œใžใ‚Œ21๏ผ…ใจ33๏ผ…(4)ใใฎไป–ใ€€7๏ผ… ใงใ€็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญๅฏพ่ฑก๏ผˆ(2)ใ€(3)๏ผ‰ใฎๅˆ่จˆใฏ61๏ผ…ใ€‚ๅ—็™‚็Šถๆณใฏใ€ไธปใซ้€š้™ขใŒ็ด„50๏ผ…ใงๆœ€ใ‚‚ๅคšใใ€ๆฌกใ„ใงๅœจๅฎ…็™‚ๆณ•16๏ผ…ใ€่ปฝๅฟซ10๏ผ…ใ€ไธปใซๅ…ฅ้™ข3๏ผ…ใฎ้ †ใ€‚่ปฝ็—‡ไพ‹ใ‚‚ๅซใ‚ใ€ๅฎŸ้š›ใฎๆ‚ฃ่€…ๆ•ฐใฏใ•ใ‚‰ใซๅคšใ„ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ใใฎ้บไผๅฝขๅผใจๆฐด็–ฑใฎๅฝขๆˆใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚๏ผˆ่กจ1๏ผ‰(ๆ–ฐๅ›ฝ้š›่จบๆ–ญๅŸบๆบ– Fineetal. JAm Acad Dermatol(2008)ใ‹ใ‚‰ๅผ•็”จ)"@ja ; - terms:identifier "2201000" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ๅนณๆˆ๏ผ–ๅนดใซๅฎŸๆ–ฝใ—ใŸๅ…จๅ›ฝ็–ซๅญฆ่ชฟๆŸปใซใ‚ˆใ‚‹ใจใ€ๅ…จๅ›ฝๆŽจๅฎšๆ‚ฃ่€…ๆ•ฐใฏ500๏ฝž640ไบบใ€‚ๆ€งๆฏ”ใฏ็”ทๅฅณใปใผๅŒๆ•ฐใ€ๅนด้ฝขๅˆฅใงใฏ๏ผ•ๆญณๆœชๆบ€ใŒๆœ€ใ‚‚ๅคšใ22๏ผ…ใ€‚็™บ็—‡ๅนด้ฝขใฏ็ด„๏ผ™ๅ‰ฒใŒ๏ผ‘ๆญณๆœชๆบ€ใ€‚็—…ๅž‹ๅˆฅใงใฏ(1)ๅ˜็ด”ๅž‹ใ€€32๏ผ…(2)ๆŽฅๅˆ้ƒจๅž‹ใ€€7๏ผ…(3)ๅ„ชๆ€งใจๅŠฃๆ€งๆ „้คŠ้šœๅฎณๅž‹ใ€€ใใ‚Œใžใ‚Œ21๏ผ…ใจ33๏ผ…(4)ใใฎไป–ใ€€7๏ผ… ใงใ€็‰นๅฎš็–พๆ‚ฃๆฒป็™‚็ ”็ฉถไบ‹ๆฅญๅฏพ่ฑก๏ผˆ(2)ใ€(3)๏ผ‰ใฎๅˆ่จˆใฏ61๏ผ…ใ€‚ๅ—็™‚็Šถๆณใฏใ€ไธปใซ้€š้™ขใŒ็ด„50๏ผ…ใงๆœ€ใ‚‚ๅคšใใ€ๆฌกใ„ใงๅœจๅฎ…็™‚ๆณ•16๏ผ…ใ€่ปฝๅฟซ10๏ผ…ใ€ไธปใซๅ…ฅ้™ข3๏ผ…ใฎ้ †ใ€‚่ปฝ็—‡ไพ‹ใ‚‚ๅซใ‚ใ€ๅฎŸ้š›ใฎๆ‚ฃ่€…ๆ•ฐใฏใ•ใ‚‰ใซๅคšใ„ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚่กจ็šฎๆฐด็–ฑ็—‡ใฏใ€ใใฎ้บไผๅฝขๅผใจๆฐด็–ฑใฎๅฝขๆˆใ™ใ‚‹้ƒจไฝใซใ‚ˆใฃใฆ4ๅž‹ใซๅคงๅˆฅใ•ใ‚Œใ‚‹ใ€‚๏ผˆ่กจ1๏ผ‰(ๆ–ฐๅ›ฝ้š›่จบๆ–ญๅŸบๆบ– Fineetal. JAm Acad Dermatol(2008)ใ‹ใ‚‰ๅผ•็”จ)"@ja ; + dcterms:identifier "NANDO:2201000" ; + dcterms:source ; a owl:Class ; - rdfs:label "epidermolysis bullosa"@en, "่กจ็šฎๆฐด็–ฑ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0006541 ; + rdfs:label "Epidermolysis bullosa"@en, "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0006541 ; skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡"@ja . -:2201001 - :hasNotificationNumber "10" ; - terms:description "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—…็†็ต„็น”ๅญฆ็š„ใซKogoj ๆตท็ถฟ็Šถ่†ฟ็–ฑใ‚’็‰นๅพดใจใ™ใ‚‹่ง’ๅฑคไธ‹่†ฟ็–ฑใ‚’ๅฝขๆˆใ™ใ‚‹๏ผŽๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒๆœฌ็—‡ใฎ็‰นๅพดใงใ‚ใ‚‹๏ผŽๅฐ‹ๅธธๆ€งไนพ็™ฌ็šฎ็–นใŒๅ…ˆ่กŒใ™ใ‚‹ไพ‹ใซใคใ„ใฆใฏๆˆไบบไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใฎใงไป–็จฟใซ่ญฒใ‚‹ใ€‚็ตŒ้Žไธญใซๅ…จ่บซๆ€ง็‚Ž็—‡ๅๅฟœใซไผดใ†่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹2)ใ€‚"@ja ; - terms:identifier "2201001" ; - terms:source ; - a owl:Class ; - rdfs:label "pustular psoriasis"@en, "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0022205 ; + + nando:hasNotificationNumber "12" ; + dcterms:description "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰ใฏใ€ๆ€ฅๆฟ€ใช็™บ็†ฑใจใจใ‚‚ใซๅ…จ่บซใฎ็šฎ่†šใŒๆฝฎ็ด…ใ—ใ€็„ก่Œๆ€ง่†ฟ็–ฑใŒๅคš็™บใ™ใ‚‹็จ€ใช็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ็—…็†็ต„็น”ๅญฆ็š„ใซKogoj ๆตท็ถฟ็Šถ่†ฟ็–ฑใ‚’็‰นๅพดใจใ™ใ‚‹่ง’ๅฑคไธ‹่†ฟ็–ฑใ‚’ๅฝขๆˆใ™ใ‚‹๏ผŽๅ†็™บใ‚’็นฐใ‚Š่ฟ”ใ™ใ“ใจใŒๆœฌ็—‡ใฎ็‰นๅพดใงใ‚ใ‚‹๏ผŽๅฐ‹ๅธธๆ€งไนพ็™ฌ็šฎ็–นใŒๅ…ˆ่กŒใ™ใ‚‹ไพ‹ใซใคใ„ใฆใฏๆˆไบบไพ‹ใŒใปใจใ‚“ใฉใงใ‚ใ‚‹ใฎใงไป–็จฟใซ่ญฒใ‚‹ใ€‚็ตŒ้Žไธญใซๅ…จ่บซๆ€ง็‚Ž็—‡ๅๅฟœใซไผดใ†่‡จๅบŠๆคœๆŸป็•ฐๅธธใ‚’็คบใ—ใ€ใ—ใฐใ—ใฐ็ฒ˜่†œ็—‡็Šถใ€้–ข็ฏ€็‚Žใ‚’ๅˆไฝตใ™ใ‚‹ใปใ‹ใ€ใพใ‚Œใซ็œผ็—‡็Šถใ€ไบŒๆฌกๆ€งใ‚ขใƒŸใƒญใ‚คใƒ‰ใƒผใ‚ทใ‚นใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹2)ใ€‚"@ja ; + dcterms:identifier "NANDO:2201001" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pustular psoriasis"@en, "ใฎใ†ใปใ†ใ›ใ„ใ‹ใ‚“ใ›ใ‚“๏ผˆใฏใ‚“ใฑใคใŒใŸ๏ผ‰"@ja-Hira, "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GPP"@en, "Generalized pustular psoriasis"@en ; + skos:closeMatch obo:MONDO_0022205 ; skos:prefLabel "่†ฟ็–ฑๆ€งไนพ็™ฌ๏ผˆๆฑŽ็™บๅž‹๏ผ‰"@ja . -:2201002 - :hasNotificationNumber "2" ; - terms:description "ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้ซ˜็™บ็™Œๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ8ใคใฎใ‚ตใƒ–ใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; - terms:identifier "2201002" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "ๆ—ฅๅ…‰้Žๆ•็—‡็Šถใ‚’ๅ‘ˆใ—ใ€้œฒๅ‡บ้ƒจ็šฎ่†šใฎไนพ็‡ฅใ€่‰ฒ็ด ๆฒˆ็€ใ‚’ๅ‘ˆใ—ใ€็šฎ่†šใŒใ‚“ใ‚’้ซ˜็Ž‡ใซ็™บ็”Ÿใ™ใ‚‹้ซ˜็™บ็™Œๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚A๏ฝžG็พคใ€V๏ผˆใƒใƒชใ‚ขใƒณใƒˆ๏ผ‰ๅž‹ใฎ8ใคใฎใ‚ตใƒ–ใ‚ฐใƒซใƒผใƒ—ใซๅˆ†ใ‘ใ‚‰ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201002" ; + dcterms:source ; a owl:Class ; - rdfs:label "Xeroderma pigmentosum"@en, "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Xeroderma pigmentosum"@en, "ใ—ใใใ›ใ„ใ‹ใ‚“ใดใ—ใ‚‡ใ†"@ja-Hira, "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "XP"@en ; - skos:closeMatch mondo:MONDO_0019600 ; + skos:closeMatch obo:MONDO_0019600 ; skos:prefLabel "่‰ฒ็ด ๆ€งไนพ็šฎ็—‡"@ja . -:2201003 - :hasNotificationNumber "14" ; - terms:description "ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจใ€็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎใปใ‹้ชจใ€็œผใ€็ฅž็ตŒใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201003" ; - terms:source ; + + nando:hasNotificationNumber "16" ; + dcterms:description "ใ‚ซใƒ•ใ‚งใƒปใ‚ชใƒปใƒฌๆ–‘ใจใ€็ฅž็ตŒ็ทš็ถญ่…ซใ‚’ไธปๅพดใจใ—ใ€ใใฎใปใ‹้ชจใ€็œผใ€็ฅž็ตŒใชใฉใซๅคšๅฝฉใช็—‡ๅ€™ใ‚’ๅ‘ˆใ™ใ‚‹ๆฏๆ–‘็—‡ใงใ‚ใ‚Šใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201003" ; + dcterms:source ; a owl:Class ; - rdfs:label "von Recklinghausen's disease"@en, "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…"@ja ; + rdfs:label "von Recklinghausen's disease"@en, "ใ‚Œใฃใใ‚Šใ‚“ใใฏใ†ใœใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…"@ja ; rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:altLabel "neurofibromatosis type 1"@en, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡โ… ๅž‹"@ja ; - skos:closeMatch mondo:MONDO_0018975, mondo:MONDO_0021061 ; + rdfs:subClassOf ; + skos:altLabel "Neurofibromatosis type 1"@en, "Recklinghausen็—…"@ja, "็ฅž็ตŒ็ทš็ถญ่…ซ็—‡Iๅž‹"@ja ; + skos:closeMatch obo:MONDO_0018975, obo:MONDO_0021061 ; skos:prefLabel "ใƒฌใƒƒใ‚ฏใƒชใƒณใ‚ฐใƒใ‚ฆใ‚ผใƒณ็—…"@ja . -:2201004 - :hasNotificationNumber "11" ; - terms:description "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡(pachydermoperiostosis, PDP)ใฏๅคช้ผ“ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽš๏ผˆ่„ณๅ›ž่ปข็Šถ้ ญ็šฎใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2ๆฌกๆ€ง๏ผˆ็ถš็™บๆ€ง๏ผ‰ใจใ—ใฆ่‚บใŒใ‚“ใชใฉใฎ่ƒธ่…”ๅ†…็–พๆ‚ฃใซใ‚ˆใ‚‹ใ‚‚ใฎใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€ง่‚ฅๅคงๆ€ง้ชจ้–ข็ฏ€็—‡๏ผˆprimary hypertrophic osteoarthropathy, PHO)ใ‚‚็พๅœจใงใฏๅŽŸๅ› ้บไผๅญใŒๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€้ชจใƒป้–ข็ฏ€็—‡็Šถใซ็€็›ฎใ—ใŸ็—…ๅใง็šฎ่†š็—‡็Šถใฎๆœ‰็„กใ‚’ๅ•ใ‚ใชใ„ใ€‚1868ๅนดใ€FriedreichใŒใ€๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ๆœฌ็—‡ใงใฏๅคšๅฝฉใชๅˆไฝต็—‡ใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅคšๆฑ—็—‡ใ€็œผ็žผไธ‹ๅž‚ใ€่„ฑๆฏ›ใ€ไธ‹่…ฟๆฝฐ็˜ใซๅŠ ใˆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใจใ—ใฆ10ไปฃใ‹ใ‚‰ใฎ่ƒƒใƒปๅไบŒๆŒ‡่…ธๆฝฐ็˜ใ‚„่ƒƒ็ฒ˜่†œๅทจๅคง่ฅžๅฃใ‚„้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅพŒ่€…ใฏๆœ€่ฟ‘ๅŽŸๅ› ้บไผๅญใŒๆœฌ็—‡ใจๅŒไธ€ใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใ€ๆœฌ็—‡ใฎ้‡่ฆใชๅˆไฝต็—‡ใจไฝ็ฝฎใฅใ‘ใ‚‰ใ‚ŒใŸใ€‚ใใฎใปใ‹้ชจ้ซ„็ทš็ถญ็—‡ใ‚„ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ€็šฎ่†šใƒป้ชจใฎใฟใชใ‚‰ใšๅคšใใฎ่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ™็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201004" ; - terms:source ; - a owl:Class ; - rdfs:label "pachydermoperiostosis"@en, "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009799, mondo:MONDO_0016620 ; + + nando:hasNotificationNumber "13" ; + dcterms:description "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡(pachydermoperiostosis, PDP)ใฏๅคช้ผ“ใฐใกๆŒ‡ใ€้•ท็ฎก้ชจใ‚’ไธปใจใ™ใ‚‹้ชจ่†œๆ€ง้ชจ่‚ฅๅŽšใ€็šฎ่†š่‚ฅๅŽš๏ผˆ่„ณๅ›ž่ปข็Šถ้ ญ็šฎใ‚’ๅซใ‚€๏ผ‰ใ‚’๏ผ“ไธปๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚2ๆฌกๆ€ง๏ผˆ็ถš็™บๆ€ง๏ผ‰ใจใ—ใฆ่‚บใŒใ‚“ใชใฉใฎ่ƒธ่…”ๅ†…็–พๆ‚ฃใซใ‚ˆใ‚‹ใ‚‚ใฎใŒ็Ÿฅใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚็‰น็™บๆ€ง่‚ฅๅคงๆ€ง้ชจ้–ข็ฏ€็—‡๏ผˆprimary hypertrophic osteoarthropathy, PHO)ใ‚‚็พๅœจใงใฏๅŽŸๅ› ้บไผๅญใŒๅŒไธ€ใฎ็–พๆ‚ฃใงใ‚ใ‚‹ใŒใ€้ชจใƒป้–ข็ฏ€็—‡็Šถใซ็€็›ฎใ—ใŸ็—…ๅใง็šฎ่†š็—‡็Šถใฎๆœ‰็„กใ‚’ๅ•ใ‚ใชใ„ใ€‚1868ๅนดใ€FriedreichใŒใ€๏ผ“ๅพดใ‚’ๆœ‰ใ™ใ‚‹็—‡ไพ‹ใ‚’ๆœ€ๅˆใซ่จ˜่ผ‰ใ—ใŸใ€‚ๆœฌ็—‡ใงใฏๅคšๅฝฉใชๅˆไฝต็—‡ใŒ็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Šใ€ๅคšๆฑ—็—‡ใ€็œผ็žผไธ‹ๅž‚ใ€่„ฑๆฏ›ใ€ไธ‹่…ฟๆฝฐ็˜ใซๅŠ ใˆใ€ๆถˆๅŒ–ๅ™จ็—‡็Šถใจใ—ใฆ10ไปฃใ‹ใ‚‰ใฎ่ƒƒใƒปๅไบŒๆŒ‡่…ธๆฝฐ็˜ใ‚„่ƒƒ็ฒ˜่†œๅทจๅคง่ฅžๅฃใ‚„้ž็‰น็•ฐๆ€งๅคš็™บๆ€งๅฐ่…ธๆฝฐ็˜็—‡ใŒๅ ฑๅ‘Šใ•ใ‚Œใฆใ„ใ‚‹ใ€‚็‰นใซๅพŒ่€…ใฏๆœ€่ฟ‘ๅŽŸๅ› ้บไผๅญใŒๆœฌ็—‡ใจๅŒไธ€ใงใ‚ใ‚‹ใ“ใจใŒๅˆคๆ˜Žใ—ใ€ๆœฌ็—‡ใฎ้‡่ฆใชๅˆไฝต็—‡ใจไฝ็ฝฎใฅใ‘ใ‚‰ใ‚ŒใŸใ€‚ใใฎใปใ‹้ชจ้ซ„็ทš็ถญ็—‡ใ‚„ไฝŽใ‚ซใƒชใ‚ฆใƒ ่ก€็—‡ใŒ็Ÿฅใ‚‰ใ‚Œใ€็šฎ่†šใƒป้ชจใฎใฟใชใ‚‰ใšๅคšใใฎ่‡“ๅ™จใซ้šœๅฎณใ‚’ๆฅใ™็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201004" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pachydermoperiostosis"@en, "ใฒใ“ใ†ใ›ใ„ใฒใตใ“ใคใพใใ—ใ‚‡ใ†"@ja-Hira, "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PDP"@en ; + skos:closeMatch obo:MONDO_0009799, obo:MONDO_0016620 ; skos:prefLabel "่‚ฅๅŽšๆ€ง็šฎ่†š้ชจ่†œ็—‡"@ja . -:2201005 - :hasNotificationNumber "13" ; - terms:description "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏๆฏ›้ซชใ€ๆญฏ็‰™ใ€็ˆชใ€ๆฑ—่…บใฎๅฝขๆˆไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธป่ฆใช่‡จๅบŠๅพดๅ€™ใฏใ€็šฎ่†šใจไป˜ๅฑžๅ™จใฎๅฝขๆˆไธๅ…จๅŠใณ็‰นๅพด็š„้ก”่ฒŒใงใ‚ใ‚Šใ€ใใฎ็—‡็Šถใฏๆฐธ็ถš็š„ใง้€ฒ่กŒใฏใ—ใชใ„ใ€‚ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹็„กๆฑ—(ไฝŽๆฑ—)ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏใ€1929ๅนดWeechใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงใซ150๏ฝž200ใ‚’่ถ…ใˆใ‚‹็—…ๅž‹ใŒ่จ˜่ผ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2201005" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏๆฏ›้ซชใ€ๆญฏ็‰™ใ€็ˆชใ€ๆฑ—่…บใฎๅฝขๆˆไธๅ…จใ‚’็‰นๅพดใจใ™ใ‚‹้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ไธป่ฆใช่‡จๅบŠๅพดๅ€™ใฏใ€็šฎ่†šใจไป˜ๅฑžๅ™จใฎๅฝขๆˆไธๅ…จๅŠใณ็‰นๅพด็š„้ก”่ฒŒใงใ‚ใ‚Šใ€ใใฎ็—‡็Šถใฏๆฐธ็ถš็š„ใง้€ฒ่กŒใฏใ—ใชใ„ใ€‚ๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฎไปฃ่กจ็š„็–พๆ‚ฃใงใ‚ใ‚‹็„กๆฑ—(ไฝŽๆฑ—)ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ็—‡ใฏใ€1929ๅนดWeechใซใ‚ˆใ‚Šๅˆใ‚ใฆๅ ฑๅ‘Šใ•ใ‚Œใ€็พๅœจใพใงใซ150๏ฝž200ใ‚’่ถ…ใˆใ‚‹็—…ๅž‹ใŒ่จ˜่ผ‰ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201005" ; + dcterms:source ; a owl:Class ; - rdfs:label "anhidrotic ectodermal dysplsia"@en, "็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ"@ja ; + rdfs:label "Anhidrotic ectodermal dysplasia"@en, "ใ‚€ใ‹ใ‚“ใ›ใ„ใŒใ„ใฏใ„ใ‚ˆใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“"@ja-Hira, "็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016535 ; skos:prefLabel "็„กๆฑ—ๆ€งๅค–่ƒš่‘‰ๅฝขๆˆไธๅ…จ"@ja . -:2201006 - :hasNotificationNumber "3" ; - terms:description "ใ‚นใƒ†ใ‚ฃใƒผใƒ–ใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค(SJS:Stevens-Johnson ็—‡ๅ€™็พค๏ผ‰ใฏใ€38โ„ƒไปฅไธŠใฎ้ซ˜็†ฑใ‚’ไผดใ„ๅ…จ่บซใฎ็šฎ่†šใซ็ด…ๆ–‘ใ‚„ๆฐด็–ฑใƒปใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ€็œผ็ต่†œใ‚„่ง’่†œใ€ๅฃๅ”‡ใƒปๅฃ่…”็ฒ˜่†œใ€้™ฐ้ƒจใชใฉใซใณใ‚‰ใ‚“ใ‚„ๅ‡บ่ก€ใจใ„ใฃใŸ้‡็ฏคใช็ฒ˜่†œ็–นใ‚’่ชใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ใฏ็šฎ่†šใฎใณใ‚‰ใ‚“้ข็ฉใŒ10๏ผ…ไปฅไธŠใซๆ‹กๅคงใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใ€‚็œผ็—‡็ŠถใŒๅผทใ„ๅ ดๅˆใซใฏใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ่ฆ–ๅŠ›ใฎไฝŽไธ‹ใ‚„ๅคฑๆ˜ŽใชใฉใฎๅพŒ้บ็—‡ใŒๆฎ‹ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซ่จบๆ–ญใ—ใฆ้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้–‹ๅง‹ใ—ใชใ„ใจ็”Ÿๅ‘ฝใซ้–ขใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201006" ; - terms:source ; - a owl:Class ; - rdfs:label "Stevens-Johnson syndrome"@en, "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:altLabel "Stevens-Johnson็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0018229 ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ใ‚นใƒ†ใ‚ฃใƒผใƒ–ใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค(SJS:Stevens-Johnson ็—‡ๅ€™็พค๏ผ‰ใฏใ€38โ„ƒไปฅไธŠใฎ้ซ˜็†ฑใ‚’ไผดใ„ๅ…จ่บซใฎ็šฎ่†šใซ็ด…ๆ–‘ใ‚„ๆฐด็–ฑใƒปใณใ‚‰ใ‚“ใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ€็œผ็ต่†œใ‚„่ง’่†œใ€ๅฃๅ”‡ใƒปๅฃ่…”็ฒ˜่†œใ€้™ฐ้ƒจใชใฉใซใณใ‚‰ใ‚“ใ‚„ๅ‡บ่ก€ใจใ„ใฃใŸ้‡็ฏคใช็ฒ˜่†œ็–นใ‚’่ชใ‚ใ‚‹ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ‚‹ใ€‚ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡ใฏ็šฎ่†šใฎใณใ‚‰ใ‚“้ข็ฉใŒ10๏ผ…ไปฅไธŠใซๆ‹กๅคงใ—ใŸใ‚‚ใฎใ‚’ใ•ใ™ใ€‚็œผ็—‡็ŠถใŒๅผทใ„ๅ ดๅˆใซใฏใ€ๆฒป็™‚ใŒ้…ใ‚Œใ‚‹ใจ่ฆ–ๅŠ›ใฎไฝŽไธ‹ใ‚„ๅคฑๆ˜ŽใชใฉใฎๅพŒ้บ็—‡ใŒๆฎ‹ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๆ—ฉๆœŸใซ่จบๆ–ญใ—ใฆ้ฉๅˆ‡ใชๆฒป็™‚ใ‚’้–‹ๅง‹ใ—ใชใ„ใจ็”Ÿๅ‘ฝใซ้–ขใ‚ใ‚‹ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201006" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stevens-Johnson syndrome"@en, "ใ™ใฆใƒใƒผใถใ‚“ใ™ใƒปใ˜ใ‚‡ใ‚“ใใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SJS"@en, "Stevens-Johnson็—‡ๅ€™็พค"@ja, "Toxic epidermal necrolysis"@en, "็šฎ่†š็ฒ˜่†œ็œผ็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0018229 ; skos:prefLabel "ใ‚นใƒ†ใ‚ฃใƒผใƒดใƒณใ‚นใƒปใ‚ธใƒงใƒณใ‚ฝใƒณ็—‡ๅ€™็พค"@ja . -:2201007 - :hasNotificationNumber "3" ; - terms:identifier "2201007" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201007" ; + dcterms:source ; a owl:Class ; - rdfs:label "Toxic epidermal necrolysis"@en, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0019810 ; + rdfs:label "Toxic epidermal necrolysis"@en, "ใกใ‚…ใ†ใฉใใ›ใ„ใฒใ‚‡ใ†ใฒใˆใ—ใ—ใ‚‡ใ†"@ja-Hira, "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "TEN"@en ; + skos:closeMatch obo:MONDO_0019810 ; skos:prefLabel "ไธญๆฏ’ๆ€ง่กจ็šฎๅฃŠๆญป็—‡"@ja . -:2201008 - :hasNotificationNumber "1" ; - terms:description "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค(Thoracic insufficiency syndrome)ใฏใ€ๅฐๅ…ใฎๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š่ƒธ้ƒญ๏ผˆๆจช้š”่†œใ€่„ŠๆŸฑใ‚’ๅซใ‚€๏ผ‰ใฎๆˆ้•ท้šœๅฎณใจใใ‚Œใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ๅฝขๆ…‹็•ฐๅธธใซใ‚ˆใ‚Šๆญฃๅธธใช่‚บใฎๆˆ้•ทใŒๅฆจใ’ใ‚‰ใ‚Œใ€ๅ‘ผๅธๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใŸ็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ็‰นๅพดใฏใ€่จบๆ–ญๆ™‚ๅ…จใๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใชใใฆใ‚‚ใใ‚ŒไปฅๅพŒใฎๆˆ้•ท้šœๅฎณใซใ‚ˆใ‚Šๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ“ใจใŒไบˆๆƒณใงใใ‚‹็—…ๆ…‹ใซใฏ้šœๅฎณ็™บ็”Ÿไปฅๅ‰ใงใ‚‚่จบๆ–ญใ‚’ใคใ‘ใ‚‹ใ“ใจใŒใงใใ‚‹็‚นใงใ‚ใ‚‹ใ€‚ใ“ใฎ็‚นใŒๅ…จใไป–ใฎ็–พๆ‚ฃ็พคใจใฏ็•ฐใชใ‚‹็‚นใงใ‚ใ‚Šใ€ใใฎ็†็”ฑใจใ—ใฆ่„ŠๆŸฑใƒป่ƒธ้ƒญใฎๅค‰ๅฝขใ‚„ๆˆ้•ท้šœๅฎณใฏไธ€ๆ—ฆ้ซ˜ๅบฆใซๆ‚ชๅŒ–ใ™ใ‚‹ใจใ€ไพ‹ใˆๆ‰‹่ก“ใ‚’ใ—ใฆใ‚‚ๆฉŸ่ƒฝ้šœๅฎณใŒๆ”นๅ–„ใ™ใ‚‹ใ“ใจใŒใปใจใ‚“ใฉไธๅฏ่ƒฝใซใชใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€ๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซ่ƒธ้ƒญใ‚’ๅฝขๆˆใ™ใ‚‹่‚‹้ชจใ€่„ŠๆŸฑใฎ้ชจๆ€ง่ฆ็ด ใจ่ƒธ้ƒญๆฉŸ่ƒฝใซ้–ขไธŽใ™ใ‚‹ๆจช้š”่†œใ€่‚‹้–“็ญ‹ใ€ไฝ“ๅนน็ญ‹๏ผˆ่ตท็ซ‹็ญ‹๏ผ‰ใ€ใใ—ใฆใใ‚Œใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใ™ใ‚‹็ฅž็ตŒๆฉŸ่ƒฝใฎใฉใ“ใซ้šœๅฎณใŒ็”Ÿใ˜ใฆใ‚‚็”Ÿใ˜ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201008" ; - terms:source ; + + nando:hasNotificationNumber "1" ; + dcterms:description "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค(Thoracic insufficiency syndrome)ใฏใ€ๅฐๅ…ใฎๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซไฝ•ใ‚‰ใ‹ใฎๅŽŸๅ› ใซใ‚ˆใ‚Š่ƒธ้ƒญ๏ผˆๆจช้š”่†œใ€่„ŠๆŸฑใ‚’ๅซใ‚€๏ผ‰ใฎๆˆ้•ท้šœๅฎณใจใใ‚Œใซไผดใฃใฆ็”Ÿใ˜ใ‚‹ๅฝขๆ…‹็•ฐๅธธใซใ‚ˆใ‚Šๆญฃๅธธใช่‚บใฎๆˆ้•ทใŒๅฆจใ’ใ‚‰ใ‚Œใ€ๅ‘ผๅธๆฉŸ่ƒฝใซ้šœๅฎณใ‚’ๅผ•ใ่ตทใ“ใ—ใŸ็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฎ็‰นๅพดใฏใ€่จบๆ–ญๆ™‚ๅ…จใๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒใชใใฆใ‚‚ใใ‚ŒไปฅๅพŒใฎๆˆ้•ท้šœๅฎณใซใ‚ˆใ‚Šๅ‘ผๅธๆฉŸ่ƒฝ้šœๅฎณใŒ็”Ÿใ˜ใ‚‹ใ“ใจใŒไบˆๆƒณใงใใ‚‹็—…ๆ…‹ใซใฏ้šœๅฎณ็™บ็”Ÿไปฅๅ‰ใงใ‚‚่จบๆ–ญใ‚’ใคใ‘ใ‚‹ใ“ใจใŒใงใใ‚‹็‚นใงใ‚ใ‚‹ใ€‚ใ“ใฎ็‚นใŒๅ…จใไป–ใฎ็–พๆ‚ฃ็พคใจใฏ็•ฐใชใ‚‹็‚นใงใ‚ใ‚Šใ€ใใฎ็†็”ฑใจใ—ใฆ่„ŠๆŸฑใƒป่ƒธ้ƒญใฎๅค‰ๅฝขใ‚„ๆˆ้•ท้šœๅฎณใฏไธ€ๆ—ฆ้ซ˜ๅบฆใซๆ‚ชๅŒ–ใ™ใ‚‹ใจใ€ไพ‹ใˆๆ‰‹่ก“ใ‚’ใ—ใฆใ‚‚ๆฉŸ่ƒฝ้šœๅฎณใŒๆ”นๅ–„ใ™ใ‚‹ใ“ใจใŒใปใจใ‚“ใฉไธๅฏ่ƒฝใซใชใ‚‹ใ‹ใ‚‰ใงใ‚ใ‚‹ใ€‚ๆœฌ็—‡ๅ€™็พคใฏใ€ๆœชๆˆ็†Ÿใชๆ™‚ๆœŸใซ่ƒธ้ƒญใ‚’ๅฝขๆˆใ™ใ‚‹่‚‹้ชจใ€่„ŠๆŸฑใฎ้ชจๆ€ง่ฆ็ด ใจ่ƒธ้ƒญๆฉŸ่ƒฝใซ้–ขไธŽใ™ใ‚‹ๆจช้š”่†œใ€่‚‹้–“็ญ‹ใ€ไฝ“ๅนน็ญ‹๏ผˆ่ตท็ซ‹็ญ‹๏ผ‰ใ€ใใ—ใฆใใ‚Œใ‚’ใ‚ณใƒณใƒˆใƒญใƒผใƒซใ™ใ‚‹็ฅž็ตŒๆฉŸ่ƒฝใฎใฉใ“ใซ้šœๅฎณใŒ็”Ÿใ˜ใฆใ‚‚็”Ÿใ˜ใ‚‹ๅฏ่ƒฝๆ€งใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201008" ; + dcterms:source ; a owl:Class ; - rdfs:label "Thoracic insufficiency syndrome"@en, "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค"@ja ; + rdfs:label "Thoracic insufficiency syndrome"@en, "ใใ‚‡ใ†ใ‹ใใตใœใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค"@ja ; rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015929 ; skos:prefLabel "่ƒธ้ƒญไธๅ…จ็—‡ๅ€™็พค"@ja . -:2201009 - :hasNotificationNumber "13" ; - terms:description "ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎ่‘—ใ—ใ„ไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ข็Ÿญ็ธฎใฏ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใใ‚ใ‚‰ใ‚ใ‚Œใ‚‹ใ€‚ใ“ใฎใปใ‹ใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ่„ณ้ ญ่“‹ใŒ็›ธๅฏพ็š„ใซๅคงใใ„ใ€ๅ‰้ก้ƒจใฎ็ชๅ‡บใ€้ผปๆ น้ƒจใฎ้™ฅๅ‡นใ€้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆใ€ไธ‹้กŽใŒ็›ธๅฏพ็š„ใซ็ชๅ‡บ๏ผ‰ใ€ไธ‰ๅฐ–ๆ‰‹๏ผˆๆŒ‡ใฏ็Ÿญใใ€ไผธใฐใ™ใจไธญๆŒ‡ใจ่–ฌๆŒ‡ใฎ้–“ใŒ้›ขใ‚Œใ‚‹๏ผ‰ใ€ไธ‹้ƒจ่…ฐๆคŽใฎๅ‰ๅฝŽใŒๅผทใ„ใŸใ‚ใฎ่‡€้ƒจใฎๅพŒๆ–น็ชๅ‡บใŒ่บซไฝ“็š„ใช็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปฝ็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2201009" ; - terms:source ; + + nando:hasNotificationNumber "14" ; + dcterms:description "ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎ่‘—ใ—ใ„ไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๅ››่‚ข็Ÿญ็ธฎใฏ่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใใ‚ใ‚‰ใ‚ใ‚Œใ‚‹ใ€‚ใ“ใฎใปใ‹ใ€็‰นๅพด็š„ใช้ก”่ฒŒ๏ผˆ่„ณ้ ญ่“‹ใŒ็›ธๅฏพ็š„ใซๅคงใใ„ใ€ๅ‰้ก้ƒจใฎ็ชๅ‡บใ€้ผปๆ น้ƒจใฎ้™ฅๅ‡นใ€้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆใ€ไธ‹้กŽใŒ็›ธๅฏพ็š„ใซ็ชๅ‡บ๏ผ‰ใ€ไธ‰ๅฐ–ๆ‰‹๏ผˆๆŒ‡ใฏ็Ÿญใใ€ไผธใฐใ™ใจไธญๆŒ‡ใจ่–ฌๆŒ‡ใฎ้–“ใŒ้›ขใ‚Œใ‚‹๏ผ‰ใ€ไธ‹้ƒจ่…ฐๆคŽใฎๅ‰ๅฝŽใŒๅผทใ„ใŸใ‚ใฎ่‡€้ƒจใฎๅพŒๆ–น็ชๅ‡บใŒ่บซไฝ“็š„ใช็‰นๅพดใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปฝ็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201009" ; + dcterms:source ; a owl:Class ; - rdfs:label "Achondroplasia"@en, "่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007037 ; + rdfs:label "Achondroplasia"@en, "ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007037 ; skos:prefLabel "่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja . -:2201010 - :hasNotificationNumber "12" ; - terms:description "่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใ„ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซไผผใŸใƒฌใƒณใƒˆใ‚ฒใƒณๆ‰€่ฆ‹ใ‚’ใ—ใ‚ใ™ใŒใ€็จ‹ๅบฆใฏ่ปฝใๆญฃๅธธใซ่ฟ‘ใ„ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ้‡็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; - terms:identifier "2201010" ; - terms:source ; + + nando:hasNotificationNumber "13" ; + dcterms:description "่ฟ‘ไฝ่‚ข็ฏ€ใซใ‚ˆใ‚Šๅผทใ„ๅ››่‚ข็Ÿญ็ธฎๅž‹ใฎไฝŽ่บซ้•ทใ‚’ใใŸใ™ๅ…ˆๅคฉๆ€งใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซไผผใŸใƒฌใƒณใƒˆใ‚ฒใƒณๆ‰€่ฆ‹ใ‚’ใ—ใ‚ใ™ใŒใ€็จ‹ๅบฆใฏ่ปฝใๆญฃๅธธใซ่ฟ‘ใ„ใ‚‚ใฎใพใงๅคšๅฝฉใงใ‚ใ‚‹ใ€‚ๅคใใฏ่ปŸ้ชจ็•ฐๆ „้คŠ็—‡ใจไธ€ๆ‹ฌใ—ใฆๅ‘ผใฐใ‚ŒใŸใŒใ€็พๅœจใฏ้‡็—‡ใฎ่กจ็พๅž‹ใ‚’ใจใ‚‹่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใ€่ปŸ้ชจไฝŽๅฝขๆˆ็—‡ใซ็ดฐๅˆ†ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201010" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypochondroplasia"@en, "่ปŸ้ชจไฝŽๅฝขๆˆ็—‡"@ja ; + rdfs:label "Hypochondroplasia"@en, "ใชใ‚“ใ“ใคใฆใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่ปŸ้ชจไฝŽๅฝขๆˆ็—‡"@ja ; rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0007793 ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007793 ; skos:prefLabel "่ปŸ้ชจไฝŽๅฝขๆˆ็—‡"@ja . -:2201011 - :hasNotificationNumber "3" ; - terms:description "้ชจๅฝขๆˆไธๅ…จ็—‡ใจใฏ๏ผŒๆ˜“้ชจๆŠ˜ๆ€ง๏ผŒ้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใชใฉใฎ้ชจ่„†ๅผฑๆ€ง็—‡็ŠถใซๅŠ ใˆ๏ผŒๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ"@ja ; - terms:identifier "2201011" ; - terms:source ; + + nando:hasNotificationNumber "3" ; + dcterms:description "้ชจๅฝขๆˆไธๅ…จ็—‡ใจใฏ๏ผŒๆ˜“้ชจๆŠ˜ๆ€ง๏ผŒ้€ฒ่กŒๆ€งใฎ้ชจๅค‰ๅฝขใชใฉใฎ้ชจ่„†ๅผฑๆ€ง็—‡็ŠถใซๅŠ ใˆ๏ผŒๆง˜ใ€…ใช็จ‹ๅบฆใฎ็ตๅˆ็ต„็น”็—‡็Šถใ‚’็คบใ™ๅ…ˆๅคฉๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹๏ผŽ"@ja ; + dcterms:identifier "NANDO:2201011" ; + dcterms:source ; a owl:Class ; - rdfs:label "Osteogenesis imperfecta"@en, "้ชจๅฝขๆˆไธๅ…จ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0013515, mondo:MONDO_0019019 ; + rdfs:label "Osteogenesis imperfecta"@en, "ใ“ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ชจๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019019 ; skos:prefLabel "้ชจๅฝขๆˆไธๅ…จ็—‡"@ja . -:2201012 - :hasNotificationNumber "8" ; - terms:description "็ต„็น”้ž็‰น็•ฐ็š„ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰้บไผๅญใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š้ชจใฎ็Ÿณ็ฐๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใพใŸใฏๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‡็—‡ๅบฆใ€็™บ็—‡ๆ™‚ๆœŸใชใฉใซใ‚ˆใ‚Šใ€6็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽๅ‘จ็”ฃๆœŸ้‡็—‡ๅž‹ใ€€ๆœ€ใ‚‚้‡็—‡ใช็—…ๅž‹ใงใ€ๅ‡บ็”Ÿๆ™‚ใซๅ››่‚ข็Ÿญ็ธฎใ€้ ญๅ›ฒใฎ็›ธๅฏพ็š„ๆ‹กๅคงใ€็‹ญใ„่ƒธ้ƒญใ‚’่ชใ‚ใ‚‹ใ€‚X็ทšใงใ€ๅ…จ่บซ้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€้•ท็ฎก้ชจใฎๅค‰ๅฝขใ€ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚๏ผ’๏ผŽๅ‘จ็”ฃๆœŸ่ปฝ็—‡ๅž‹๏ผš้ชจๅค‰ๅฝขใชใฉใ‹ใ‚‰่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡็—‡ไพ‹ใฎใชใ‹ใซใ€่‰ฏๅฅฝใช้ชจ็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝใช็—…ๅž‹ใ€‚ๆ—ฅๆœฌไบบไพ‹ใงใฏใ€ALP้บไผๅญF310Lใจใฎ้–ข้€ฃใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ“๏ผŽไนณๅ…ๅž‹๏ผšใ€€็”ŸๅพŒ6ใ‹ๆœˆใพใงใซ็™บ็—‡ใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๅž‹ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽๅฐๅ…ๅž‹๏ผšๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง้‡็—‡ๅบฆใฏใ•ใพใ–ใพใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸๅ–ชๅคฑใ‚’ไผดใ†ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚๏ผ•๏ผŽๆˆไบบๅž‹๏ผšๆˆไบบๆœŸใŠใ‚‚ใซไธญๅนดๆœŸใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง็—…็š„้ชจๆŠ˜ใ€้ชจ็—›ใซใ‚ˆใฃใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚๏ผ–๏ผŽๆญฏ้™ๅฑ€ๅž‹๏ผš้ชจใซ็—…ๅค‰ใŒ้™ๅฑ€ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸ่„ฑ่ฝใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201012" ; - terms:source ; + + nando:hasNotificationNumber "9" ; + dcterms:description "็ต„็น”้ž็‰น็•ฐ็š„ใ‚ขใƒซใ‚ซใƒชใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ๏ผˆALP๏ผ‰้บไผๅญใฎๆดปๆ€งไฝŽไธ‹ใซใ‚ˆใ‚Š้ชจใฎ็Ÿณ็ฐๅŒ–ใŒ้šœๅฎณใ•ใ‚Œใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€งใพใŸใฏๅ„ชๆ€งใฎ้บไผๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚้‡็—‡ๅบฆใ€็™บ็—‡ๆ™‚ๆœŸใชใฉใซใ‚ˆใ‚Šใ€6็—…ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹ใ€‚๏ผ‘๏ผŽๅ‘จ็”ฃๆœŸ้‡็—‡ๅž‹ใ€€ๆœ€ใ‚‚้‡็—‡ใช็—…ๅž‹ใงใ€ๅ‡บ็”Ÿๆ™‚ใซๅ››่‚ข็Ÿญ็ธฎใ€้ ญๅ›ฒใฎ็›ธๅฏพ็š„ๆ‹กๅคงใ€็‹ญใ„่ƒธ้ƒญใ‚’่ชใ‚ใ‚‹ใ€‚X็ทšใงใ€ๅ…จ่บซ้ชจใฎไฝŽ็Ÿณ็ฐๅŒ–ใ€้•ท็ฎก้ชจใฎๅค‰ๅฝขใ€ใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚๏ผ’๏ผŽๅ‘จ็”ฃๆœŸ่ปฝ็—‡ๅž‹๏ผš้ชจๅค‰ๅฝขใชใฉใ‹ใ‚‰่ƒŽๅ…ๆœŸใซ่จบๆ–ญใ•ใ‚ŒใŸไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡็—‡ไพ‹ใฎใชใ‹ใซใ€่‰ฏๅฅฝใช้ชจ็Ÿณ็ฐๅŒ–ใ‚’่ชใ‚ใ‚‹ไบˆๅพŒ่‰ฏๅฅฝใช็—…ๅž‹ใ€‚ๆ—ฅๆœฌไบบไพ‹ใงใฏใ€ALP้บไผๅญF310Lใจใฎ้–ข้€ฃใŒๆŒ‡ๆ‘˜ใ•ใ‚Œใฆใ„ใ‚‹ใ€‚๏ผ“๏ผŽไนณๅ…ๅž‹๏ผšใ€€็”ŸๅพŒ6ใ‹ๆœˆใพใงใซ็™บ็—‡ใ™ใ‚‹ใ€‚ไนณๅ…ๆœŸใซๆญปไบกใ™ใ‚‹็—‡ไพ‹ใ‚‚ใ‚ใ‚‹ไบˆๅพŒไธ่‰ฏใช็—…ๅž‹ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽๅฐๅ…ๅž‹๏ผšๅฐๅ…ๆœŸใซ็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง้‡็—‡ๅบฆใฏใ•ใพใ–ใพใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸๅ–ชๅคฑใ‚’ไผดใ†ใฎใŒ็‰นๅพดใงใ‚ใ‚‹ใ€‚๏ผ•๏ผŽๆˆไบบๅž‹๏ผšๆˆไบบๆœŸใŠใ‚‚ใซไธญๅนดๆœŸใซใชใฃใฆใ‹ใ‚‰็™บ็—‡ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใง็—…็š„้ชจๆŠ˜ใ€้ชจ็—›ใซใ‚ˆใฃใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚๏ผ–๏ผŽๆญฏ้™ๅฑ€ๅž‹๏ผš้ชจใซ็—…ๅค‰ใŒ้™ๅฑ€ใ™ใ‚‹ใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ไนณๆญฏใฎๆ—ฉๆœŸ่„ฑ่ฝใชใฉใ‚’่ชใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201012" ; + dcterms:source ; a owl:Class ; - rdfs:label "Hypophosphatasia"@en, "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0018570 ; + rdfs:label "Hypophosphatasia"@en, "ใฆใ„ใปใ™ใตใใŸใƒผใœใ—ใ‚‡ใ†"@ja-Hira, "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018570 ; skos:prefLabel "ไฝŽใƒ›ใ‚นใƒ•ใ‚กใ‚ฟใƒผใ‚ผ็—‡"@ja . -:2201013 - :hasNotificationNumber "6" ; - terms:description "ๅ…จ่บซใฎ้ชจ็กฌๅŒ–ใ€้€ ่ก€่ƒฝ้šœๅฎณใ€ๆ˜“้ชจๆŠ˜ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๆ—ฉ็™บๅž‹ใ€้…็™บๅž‹ใ€ไธญ้–“ๅž‹ใ€่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹ใฎ4็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚๏ผ‘๏ผŽๆ—ฉ็™บๅž‹๏ผšๅ‡บ็”Ÿๆ™‚ใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅคงๅŠใŒๅญฆ็ซฅๆœŸใพใงใซๆญปไบกใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ้‡็—‡ๅž‹ใ€‚่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซๅคงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ ญ่“‹้ชจใฎ็กฌๅŒ–ใ€ๅค‰ๅฝขใ€่ฆ–ๅŠ›่ดๅŠ›ใฎ้šœๅฎณใ€็ฒพ็ฅž็™บ้”้šœๅฎณใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ’๏ผŽ้…็™บๅž‹๏ผšๅ˜็ด”X็ทšใ‚’ๆ’ฎๅฝฑใ—ใŸ้š›ใซใ€ๅถ็„ถใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹่‰ฏๆ€งๅž‹ใงใ‚ใ‚‹ใ€‚่ฒง่ก€ใ€่‚่„พ่…ซใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ้šœๅฎณใฏๅฐ‘ใชใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ“๏ผŽไธญ้–“ๅž‹๏ผšๆ—ฉ็™บๅž‹ใจ้…็™บๅž‹ใฎไธญ้–“ใฎใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽ่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹๏ผš่…Žๅฐฟ็ดฐ็ฎกใชใฉใซ็™บ่จ€ใ—ใฆใ„ใ‚‹็‚ญ้…ธ่„ฑๆฐด้…ต็ด โ…กๅž‹ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201013" ; - terms:source ; + + nando:hasNotificationNumber "6" ; + dcterms:description "ๅ…จ่บซใฎ้ชจ็กฌๅŒ–ใ€้€ ่ก€่ƒฝ้šœๅฎณใ€ๆ˜“้ชจๆŠ˜ๆ€งใ‚’็‰นๅพดใจใ™ใ‚‹็–พๆ‚ฃใงใ€ไธญๆžข็ฅž็ตŒ็—‡็Šถใ‚„็™บ่‚ฒ้šœๅฎณใ‚’ไผดใ†ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ๆ—ฉ็™บๅž‹ใ€้…็™บๅž‹ใ€ไธญ้–“ๅž‹ใ€่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹ใฎ4็—…ๅž‹ใŒใ‚ใ‚‹ใ€‚๏ผ‘๏ผŽๆ—ฉ็™บๅž‹๏ผšๅ‡บ็”Ÿๆ™‚ใ‚ใ‚‹ใ„ใฏไนณๅ…ๆœŸๆ—ฉๆœŸใซ็™บ็—‡ใ—ใ€ๅคงๅŠใŒๅญฆ็ซฅๆœŸใพใงใซๆญปไบกใ™ใ‚‹ไบˆๅพŒไธ่‰ฏใฎ้‡็—‡ๅž‹ใ€‚่‚่„พ่…ซใ€ใƒชใƒณใƒ‘็ฏ€่…ซๅคงใ€ๆฑŽ่ก€็ƒๆธ›ๅฐ‘ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚้ ญ่“‹้ชจใฎ็กฌๅŒ–ใ€ๅค‰ๅฝขใ€่ฆ–ๅŠ›่ดๅŠ›ใฎ้šœๅฎณใ€็ฒพ็ฅž็™บ้”้šœๅฎณใ‚’่ชใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ’๏ผŽ้…็™บๅž‹๏ผšๅ˜็ด”X็ทšใ‚’ๆ’ฎๅฝฑใ—ใŸ้š›ใซใ€ๅถ็„ถใซ็™บ่ฆ‹ใ•ใ‚Œใ‚‹่‰ฏๆ€งๅž‹ใงใ‚ใ‚‹ใ€‚่ฒง่ก€ใ€่‚่„พ่…ซใ‚’ไผดใ†ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ไธญๆžข็ฅž็ตŒ้šœๅฎณใฏๅฐ‘ใชใ„ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ“๏ผŽไธญ้–“ๅž‹๏ผšๆ—ฉ็™บๅž‹ใจ้…็™บๅž‹ใฎไธญ้–“ใฎใ‚ฟใ‚คใƒ—ใงใ‚ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚๏ผ”๏ผŽ่…Žๅฐฟ็ดฐ็ฎกๆ€งใ‚ขใ‚ทใƒ‰ใƒผใ‚ทใ‚นใ‚’ไผดใ†็—…ๅž‹๏ผš่…Žๅฐฟ็ดฐ็ฎกใชใฉใซ็™บ่จ€ใ—ใฆใ„ใ‚‹็‚ญ้…ธ่„ฑๆฐด้…ต็ด โ…กๅž‹ใฎๅ…ˆๅคฉ็š„ๆฌ ๆใซใ‚ˆใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็—…ใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201013" ; + dcterms:source ; a owl:Class ; - rdfs:label "Osteopetrosis"@en, "ๅคง็†็Ÿณ้ชจ็—…"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0017198 ; + rdfs:label "Osteopetrosis"@en, "ใ ใ„ใ‚Šใ›ใใ“ใคใณใ‚‡ใ†"@ja-Hira, "ๅคง็†็Ÿณ้ชจ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017198 ; skos:prefLabel "ๅคง็†็Ÿณ้ชจ็—…"@ja . -:2201014 - :hasNotificationNumber "7" ; - terms:description "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅค–้ชจ่…ซ๏ผˆ้ชจ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ๅค–้ชจ่…ซใฏๆˆ้•ทใจใจใ‚‚ใซๅคงใใใชใ‚Šใ€็šฎไธ‹่…ซ็˜คใจใ—ใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚่…ซ็˜ใฏๅทฆๅณๅฏพ็งฐๆ€งใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒๅคšใใ€ ่†ๅ‘จๅ›ฒใฎๅคง่…ฟ้ชจ้ ไฝใŠใ‚ˆใณ่„›้ชจ่ฟ‘ไฝใซๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๅค–้ชจ่…ซใฎๅคšใใฏ้ชจๅนน็ซฏใซ่…ซ็˜คใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใ€ ้–ข็ฏ€่ฟ‘ๅ‚ใฎ่…ซ็˜คใซใ‚ˆใ‚Š้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€้ชจ็ซฏๆˆ้•ท้šœๅฎณใ‚’ใใŸใ™็ตๆžœใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ Langer-Giedion็—‡ไพฏ็พคใฏๆฏ›้ซช้ผปๆŒ‡็ฏ€็•ฐๅฝขๆˆ็—‡2ๅž‹ใงใ€ๅคš็™บๆ€งๅค–้ชจ่…ซใ‚’ไธป็—‡็Šถใซๅซใฟใ€EXT1ๅ–ชๅคฑใ‚’ๅซใ‚€้บไผๅญๆฌ ๅคฑใ‚’็คบใ™ใŸใ‚ๆœฌ็–พๆ‚ฃใซๅซใ‚ใ‚‹ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ ็จ€ใซๅค–้ชจ่…ซใŒๆ‚ชๆ€งๅŒ–๏ผˆ่ปŸ้ชจ่‚‰่…ซใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผ‰ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201014" ; - terms:source ; + + nando:hasNotificationNumber "8" ; + dcterms:description "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅค–้ชจ่…ซ๏ผˆ้ชจ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ๅค–้ชจ่…ซใฏๆˆ้•ทใจใจใ‚‚ใซๅคงใใใชใ‚Šใ€็šฎไธ‹่…ซ็˜คใจใ—ใฆๆฐ—ใฅใ‹ใ‚Œใ‚‹ใ€‚่…ซ็˜ใฏๅทฆๅณๅฏพ็งฐๆ€งใซๅ‡บ็พใ™ใ‚‹ใ“ใจใŒๅคšใใ€ ่†ๅ‘จๅ›ฒใฎๅคง่…ฟ้ชจ้ ไฝใŠใ‚ˆใณ่„›้ชจ่ฟ‘ไฝใซๅ‡บ็พ้ ปๅบฆใŒ้ซ˜ใ„ใ€‚ๅค–้ชจ่…ซใฎๅคšใใฏ้ชจๅนน็ซฏใซ่…ซ็˜คใ‚’็”Ÿใ˜ใ‚‹ใŸใ‚ใ€ ้–ข็ฏ€่ฟ‘ๅ‚ใฎ่…ซ็˜คใซใ‚ˆใ‚Š้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€้ชจ็ซฏๆˆ้•ท้šœๅฎณใ‚’ใใŸใ™็ตๆžœใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ Langer-Giedion็—‡ไพฏ็พคใฏๆฏ›้ซช้ผปๆŒ‡็ฏ€็•ฐๅฝขๆˆ็—‡2ๅž‹ใงใ€ๅคš็™บๆ€งๅค–้ชจ่…ซใ‚’ไธป็—‡็Šถใซๅซใฟใ€EXT1ๅ–ชๅคฑใ‚’ๅซใ‚€้บไผๅญๆฌ ๅคฑใ‚’็คบใ™ใŸใ‚ๆœฌ็–พๆ‚ฃใซๅซใ‚ใ‚‹ใ‚‚ใฎใจใ™ใ‚‹ใ€‚ ็จ€ใซๅค–้ชจ่…ซใŒๆ‚ชๆ€งๅŒ–๏ผˆ่ปŸ้ชจ่‚‰่…ซใงใ‚ใ‚‹ใ“ใจใŒๅคšใ„๏ผ‰ใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201014" ; + dcterms:source ; a owl:Class ; - rdfs:label "Multiple cartilaginous exostosis"@en, "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Multiple cartilaginous exostosis"@en, "ใŸใฏใคใ›ใ„ใชใ‚“ใ“ใคใ›ใ„ใŒใ„ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; skos:altLabel "Hereditary multiple exostosis"@en ; - skos:closeMatch mondo:MONDO_0005508 ; + skos:closeMatch obo:MONDO_0005508 ; skos:prefLabel "ๅคš็™บๆ€ง่ปŸ้ชจๆ€งๅค–้ชจ่…ซ็—‡"@ja . -:2201015 - :hasNotificationNumber "11" ; - terms:description "ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅ†…่ปŸ้ชจ่…ซ๏ผˆ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๆ€งใซ่…ซ็˜ใŒๅคš็™บใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ ไธกๅดๆ€งใ‚ใ‚‹ใ„ใฏไบคๅ‰ๆ€งใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใฏ็Ÿญ็ฎก้ชจใซๅฅฝ็™บใ™ใ‚‹ใŒใ€้•ท็ฎก้ชจใ€่‚‹้ชจใ€้ชจ็›คใชใฉใฎ้ ปๅบฆใ‚‚้ซ˜ใ„ใ€‚ ๆˆ้•ทๆœŸใซ็ทฉๅพใซๅข—ๅคงใ—ใฆใ€้€ฒ่กŒๆ€งใซ้ชจใฎ่†จ้š†ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใŒๆˆ้•ท่ปŸ้ชจๆฟใฎ็™บ่‚ฒใ‚’ๅฆจใ’ใ‚‹ใŸใ‚ใ€็ฝนๆ‚ฃ้ƒจไฝใฎๅค‰ๅฝขใ‚„็Ÿญ็ธฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ ๆฉŸ่ƒฝ็š„ใซใฏ้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€่‘—ใ—ใ„ๆˆ้•ท้šœๅฎณใงใฎ่„š้•ทไธ็ญ‰ใ‚„ใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚ ้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚่ก€็ฎก่…ซใ‚’ไผดใ†ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏMaffucci็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ ๆˆไบบๆœŸไปฅ้™ใซ่ปŸ้ชจ่‚‰่…ซใชใฉใธๆ‚ชๆ€งๅŒ–ใ™ใ‚‹ๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201015" ; - terms:source ; + + nando:hasNotificationNumber "12" ; + dcterms:description "ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏ่‰ฏๆ€ง่…ซ็˜ใงใ‚ใ‚‹ๅ†…่ปŸ้ชจ่…ซ๏ผˆ่ปŸ้ชจ่…ซ๏ผ‰ใŒๅ…จ่บซใฎ้ชจใซๅคš็™บใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚็‰‡ๅดๆ€งใซ่…ซ็˜ใŒๅคš็™บใ™ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ ไธกๅดๆ€งใ‚ใ‚‹ใ„ใฏไบคๅ‰ๆ€งใฎใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใฏ็Ÿญ็ฎก้ชจใซๅฅฝ็™บใ™ใ‚‹ใŒใ€้•ท็ฎก้ชจใ€่‚‹้ชจใ€้ชจ็›คใชใฉใฎ้ ปๅบฆใ‚‚้ซ˜ใ„ใ€‚ ๆˆ้•ทๆœŸใซ็ทฉๅพใซๅข—ๅคงใ—ใฆใ€้€ฒ่กŒๆ€งใซ้ชจใฎ่†จ้š†ใŒ็”Ÿใ˜ใ‚‹ใ€‚ๅ†…่ปŸ้ชจ่…ซใŒๆˆ้•ท่ปŸ้ชจๆฟใฎ็™บ่‚ฒใ‚’ๅฆจใ’ใ‚‹ใŸใ‚ใ€็ฝนๆ‚ฃ้ƒจไฝใฎๅค‰ๅฝขใ‚„็Ÿญ็ธฎใŒ็”Ÿใ˜ใ‚‹ใ€‚ ๆฉŸ่ƒฝ็š„ใซใฏ้–ข็ฏ€ๅฏๅ‹•ๆ€งใŒ้šœๅฎณใ•ใ‚Œใ‚‹ใ“ใจใ€่‘—ใ—ใ„ๆˆ้•ท้šœๅฎณใงใฎ่„š้•ทไธ็ญ‰ใ‚„ใ‚ขใƒฉใ‚คใƒกใƒณใƒˆ็•ฐๅธธใŒ็”Ÿใ˜ใ‚‹ใ“ใจใ€ใฎ๏ผ’็‚นใŒ่‡จๅบŠ็š„ใชๅ•้กŒใงใ‚ใ‚‹ใ€‚ ้‡็—‡ไพ‹ใงใฏไธŠ่‚ขใŠใ‚ˆใณไธ‹่‚ขใฎๆฉŸ่ƒฝ้šœๅฎณใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚่ก€็ฎก่…ซใ‚’ไผดใ†ๅ†…่ปŸ้ชจ่…ซ็—‡ใฏMaffucci็—‡ๅ€™็พคใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ ๆˆไบบๆœŸไปฅ้™ใซ่ปŸ้ชจ่‚‰่…ซใชใฉใธๆ‚ชๆ€งๅŒ–ใ™ใ‚‹ๅ ฑๅ‘Šใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201015" ; + dcterms:source ; a owl:Class ; - rdfs:label "Enchondromatosis"@en, "ๅ†…่ปŸ้ชจ่…ซ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; + rdfs:label "Enchondromatosis"@en, "ใชใ„ใชใ‚“ใ“ใคใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ๅ†…่ปŸ้ชจ่…ซ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:altLabel "Dyschondroplasia"@en, "Ollier disease"@en, "Osteochondromatosis"@en ; - skos:closeMatch mondo:MONDO_0005508, mondo:MONDO_0007585, mondo:MONDO_0008145 ; + skos:closeMatch obo:MONDO_0005508, obo:MONDO_0008145 ; skos:prefLabel "ๅ†…่ปŸ้ชจ่…ซ็—‡"@ja . -:2201016 - :hasNotificationNumber "14" ; - terms:description "ๅคšใใฏ2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ๏ผˆCOL2A1๏ผ‰้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€X็ทš็š„ใซๅ…ฑ้€šใ—ใŸๆ‰€่ฆ‹ใŒใ‚ใ‚‹ๅคšๅฝฉใช่‡จๅบŠ่กจ็พๅž‹ใ‚’็คบใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ ่ƒŽๅ…ๆœŸใ‚„ๅ‡บ็”Ÿ็›ดๅพŒใซๅ‘จ็”ฃๆœŸๆญปไบกใ‚’่ตทใ“ใ™้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ๅฐๅ…ๆœŸไปฅ้™ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ไพ‹ใพใงๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่ปŸ้ชจๅŸบ่ณชใ‚’ๅฝขๆˆใ™ใ‚‹2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ้šœๅฎณใ•ใ‚Œๅ››่‚ขใ€ไฝ“ๅนนใจใ‚‚ใซ็Ÿญ็ธฎใ™ใ‚‹ใ€‚้–ข็ฏ€่ปŸ้ชจใ‚„ๆคŽ้–“ๆฟใฎๅŸบ่ณชใ‚‚ไพตใ•ใ‚Œใ‚‹ใŸใ‚ใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€๏ผˆ่„ŠๆคŽ๏ผ‰็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใพใŸใฏ็ช็„ถๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆคŽไฝ“ใ‚„้•ท็ฎก้ชจใฎ็•ฐๅธธใ‚„้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆ๏ผˆๅนณๅฆใช้ก”่ฒŒ๏ผ‰ใ€ ๅฐ้กŽ็—‡ใ‚’ๅ…ฑ้€šใฎ็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ…จ่บซ้ชจX็ทšไธŠใ€่„ŠๆคŽใƒป้ชจ็ซฏ็•ฐๅฝขๆˆใ‚’็‰นๅพดใจใ—ใ€ๅˆไฝต็—‡ใจใ—ใฆใ—ใฐใ—ใฐ้€ฒ่กŒๆ€ง่ฟ‘่ฆ–ใƒป้›ฃ่ดใƒปUๅญ—ๅž‹ใฎๅฃ่“‹่ฃ‚ใ‚’ไผดใ†ใ€‚"@ja ; - terms:identifier "2201016" ; - terms:source ; + + nando:hasNotificationNumber "15" ; + dcterms:description "ๅคšใใฏ2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ๏ผˆCOL2A1๏ผ‰้บไผๅญๅค‰็•ฐใŒ่ชใ‚ใ‚‰ใ‚Œใ€X็ทš็š„ใซๅ…ฑ้€šใ—ใŸๆ‰€่ฆ‹ใŒใ‚ใ‚‹ๅคšๅฝฉใช่‡จๅบŠ่กจ็พๅž‹ใ‚’็คบใ™ไธ€้€ฃใฎ็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ€‚ ่ƒŽๅ…ๆœŸใ‚„ๅ‡บ็”Ÿ็›ดๅพŒใซๅ‘จ็”ฃๆœŸๆญปไบกใ‚’่ตทใ“ใ™้‡็—‡ไพ‹ใ‹ใ‚‰ใ€ๅฐๅ…ๆœŸไปฅ้™ใซ่จบๆ–ญใ•ใ‚Œใ‚‹ๆฏ”่ผƒ็š„่ปฝ็—‡ไพ‹ใพใงๅน…ๅบƒใ„็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่ปŸ้ชจๅŸบ่ณชใ‚’ๅฝขๆˆใ™ใ‚‹2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณใฎ็•ฐๅธธใซใ‚ˆใ‚Šใ€่ปŸ้ชจๅ†…้ชจๅŒ–ใŒ้šœๅฎณใ•ใ‚Œๅ››่‚ขใ€ไฝ“ๅนนใจใ‚‚ใซ็Ÿญ็ธฎใ™ใ‚‹ใ€‚้–ข็ฏ€่ปŸ้ชจใ‚„ๆคŽ้–“ๆฟใฎๅŸบ่ณชใ‚‚ไพตใ•ใ‚Œใ‚‹ใŸใ‚ใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€๏ผˆ่„ŠๆคŽ๏ผ‰็—‡ใ‚’็™บ็—‡ใ™ใ‚‹ใ€‚ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใพใŸใฏ็ช็„ถๅค‰็•ฐใง็™บ็—‡ใ™ใ‚‹ใ€‚ๆคŽไฝ“ใ‚„้•ท็ฎก้ชจใฎ็•ฐๅธธใ‚„้ก”้ขๆญฃไธญ้ƒจใฎไฝŽๅฝขๆˆ๏ผˆๅนณๅฆใช้ก”่ฒŒ๏ผ‰ใ€ ๅฐ้กŽ็—‡ใ‚’ๅ…ฑ้€šใฎ็‰นๅพดใจใ™ใ‚‹ใ€‚ๅ…จ่บซ้ชจX็ทšไธŠใ€่„ŠๆคŽใƒป้ชจ็ซฏ็•ฐๅฝขๆˆใ‚’็‰นๅพดใจใ—ใ€ๅˆไฝต็—‡ใจใ—ใฆใ—ใฐใ—ใฐ้€ฒ่กŒๆ€ง่ฟ‘่ฆ–ใƒป้›ฃ่ดใƒปUๅญ—ๅž‹ใฎๅฃ่“‹่ฃ‚ใ‚’ไผดใ†ใ€‚"@ja ; + dcterms:identifier "NANDO:2201016" ; + dcterms:source ; a owl:Class ; - rdfs:label "2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ"@ja, "Type II collagenopathy"@en ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "2ใŒใŸใ“ใ‚‰ใƒผใ’ใ‚“ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†ใ‹ใ‚“ใ‚Œใ‚“ใ—ใฃใ‹ใ‚“"@ja-Hira, "2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ"@ja, "Type II collagenopathy"@en ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015627, obo:MONDO_0016068, obo:MONDO_0022800 ; skos:prefLabel "2ๅž‹ใ‚ณใƒฉใƒผใ‚ฒใƒณ็•ฐๅธธ็—‡้–ข้€ฃ็–พๆ‚ฃ"@ja . -:2201017 - :hasNotificationNumber "10" ; - terms:description "้ชจ็ซฏ่ปŸ้ชจใจใใฎๅ‘จๅ›ฒ่ปŸ้ƒจ็ต„็น”ใฎ็‚น็Šถ็Ÿณ็ฐๅŒ–ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅคšใใฎ็–พๆ‚ฃใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ XๆŸ“่‰ฒไฝ“ๅ„ชๆ€งConradi-Hรผnermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX2๏ผ‰ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX1๏ผ‰ใ€ CHILD็—‡ๅ€™็พค๏ผˆๅ…ˆๅคฉๆ€ง็‰‡ๅด็•ฐๅฝขๆˆใ€้ญš้ฑ—็™ฌใ€ๅ››่‚ขๆฌ ๆ๏ผ‰ใ€Keutel็—‡ๅ€™็พคใ€Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ใ€่ฟ‘ไฝ่‚ขๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€ ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ใ‚’็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ‚ฐใƒซใƒผใƒ—ใจๅฎš็พฉใ—ใ€ CDPX1ใจๅŒๆง˜ใฎๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹ใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใƒฏใƒซใƒ•ใ‚กใƒชใƒณ่ƒŽ่Šฝ็—‡ใ€ใƒ“ใ‚ฟใƒŸใƒณKๆฌ ไน็—‡ใ€ SLE่ƒŽ่Šฝ็—‡ใชใฉใฎ็—‡ๅ€™ๆ€งใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚Š็จฎใ€…ใฎๅคงใใ็•ฐใชใฃใŸ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใงๅˆฅ้€”ๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ใŸใ‚ใ€ๆœฌ็–พ็—…ใ‹ใ‚‰ใฏ้™คใใ€‚"@ja ; - terms:identifier "2201017" ; - terms:source ; + + nando:hasNotificationNumber "11" ; + dcterms:description "้ชจ็ซฏ่ปŸ้ชจใจใใฎๅ‘จๅ›ฒ่ปŸ้ƒจ็ต„็น”ใฎ็‚น็Šถ็Ÿณ็ฐๅŒ–ๅƒใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃ็พคใฎ็ท็งฐใงใ‚ใ‚Šใ€ๅคšใใฎ็–พๆ‚ฃใ‚’ๅซใ‚“ใงใ„ใ‚‹ใ€‚ XๆŸ“่‰ฒไฝ“ๅ„ชๆ€งConradi-Hรผnermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX2๏ผ‰ใ€X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆCDPX1๏ผ‰ใ€ CHILD็—‡ๅ€™็พค๏ผˆๅ…ˆๅคฉๆ€ง็‰‡ๅด็•ฐๅฝขๆˆใ€้ญš้ฑ—็™ฌใ€ๅ››่‚ขๆฌ ๆ๏ผ‰ใ€Keutel็—‡ๅ€™็พคใ€Greenberg้ชจ็•ฐๅฝขๆˆ็—‡ใ€่ฟ‘ไฝ่‚ขๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€ ่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ€Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡ใ‚’็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡ใ‚ฐใƒซใƒผใƒ—ใจๅฎš็พฉใ—ใ€ CDPX1ใจๅŒๆง˜ใฎๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹ใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹็—‡ๅ€™็พคใ‚‚ใ‚ใ‚‹ใ€‚ใพใŸใƒฏใƒซใƒ•ใ‚กใƒชใƒณ่ƒŽ่Šฝ็—‡ใ€ใƒ“ใ‚ฟใƒŸใƒณKๆฌ ไน็—‡ใ€ SLE่ƒŽ่Šฝ็—‡ใชใฉใฎ็—‡ๅ€™ๆ€งใฎ็‚น็Šถ่ปŸ้ชจ็Ÿณ็ฐๅŒ–็—‡ใ‚‚ๅญ˜ๅœจใ™ใ‚‹ใ€‚ๅ€‹ใ€…ใฎๅŸบ็คŽ็–พๆ‚ฃใซใ‚ˆใ‚Š็จฎใ€…ใฎๅคงใใ็•ฐใชใฃใŸ็—…ๆ…‹ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ใƒšใƒซใ‚ชใ‚ญใ‚ทใ‚ฝใƒผใƒ ็—…ใฏๅ…ˆๅคฉๆ€งไปฃ่ฌ็•ฐๅธธใงๅˆฅ้€”ๅฏพ่ฑกใจใชใฃใฆใ„ใ‚‹ใŸใ‚ใ€ๆœฌ็–พ็—…ใ‹ใ‚‰ใฏ้™คใใ€‚"@ja ; + dcterms:identifier "NANDO:2201017" ; + dcterms:source ; a owl:Class ; - rdfs:label "Chondrodysplasia punctata, excluding Peroxisomal disorders"@en, "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Chondrodysplasia punctata"@en, "ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019701 ; skos:prefLabel "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja . -:2201018 - :hasNotificationNumber "2" ; - terms:description "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ทใ€ไธ‹่‚ขใฎๅค‰ๅฝขใ€็ŸญๆŒ‡ใ€้–ข็ฏ€ๅผ›็ทฉๆ€งใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ็‰นใซ่ฟ‘ไฝ่‚ข็ฏ€ใฎ็Ÿญ็ธฎใŒ็›ฎ็ซ‹ใกใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซ้กžไผผใ—ใŸๅค–่ฆณใ‚’ๅ‘ˆใ—ใฆใ„ใ‚‹ใ“ใจใŒใ€ๆœฌ็—‡ใฎๅ็งฐ็”ฑๆฅใจใชใฃใฆใ„ใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใฏ็•ฐใชใ‚Šใ€้ก”่ฒŒใฏ้€šๅธธใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไฝŽ่บซ้•ทใฏ่‘—ๆ˜Žใงใ€ๆœ€็ต‚่บซ้•ทใฏ่ปฝ็—‡ๅž‹ใง-3๏ฝž-4SDใ€้‡็—‡ๅž‹ใง-6SDไปฅไธ‹ใจใชใ‚‹ใ€‚ ใพใŸใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใฎ็Ÿญ็ธฎใ‚„้–ข็ฏ€ๅผ›็ทฉๆ€งใŒ่‘—ใ—ใ„ใ€‚ๅ››่‚ขใฎๅคง้–ข็ฏ€ใงใ‚‚้–ข็ฏ€ๅผ›็ทฉๆ€งใฏ่‘—ๆ˜Žใงใ€่‘—ใ—ใ„ๅ†…ๅ่†ใพใŸใฏๅค–ๅ่†ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่‚˜้–ข็ฏ€ใ‚„่‚ก้–ข็ฏ€ใงใฏๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๆ—ฉๆœŸ๏ผˆ10ๆญณไปฃๅพŒๅŠใ‹ใ‚‰20ๆญณไปฃ๏ผ‰ใ‹ใ‚‰ไธ‹่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ€ๆ—ฉ็™บใฎๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใ€‚"@ja ; - terms:identifier "2201018" ; - terms:source ; + + nando:hasNotificationNumber "2" ; + dcterms:description "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใฏๅ››่‚ข็Ÿญ็ธฎๅž‹ไฝŽ่บซ้•ทใ€ไธ‹่‚ขใฎๅค‰ๅฝขใ€็ŸญๆŒ‡ใ€้–ข็ฏ€ๅผ›็ทฉๆ€งใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใฎ้ชจ็ณป็ตฑ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ็‰นใซ่ฟ‘ไฝ่‚ข็ฏ€ใฎ็Ÿญ็ธฎใŒ็›ฎ็ซ‹ใกใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใซ้กžไผผใ—ใŸๅค–่ฆณใ‚’ๅ‘ˆใ—ใฆใ„ใ‚‹ใ“ใจใŒใ€ๆœฌ็—‡ใฎๅ็งฐ็”ฑๆฅใจใชใฃใฆใ„ใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่ปŸ้ชจ็„กๅฝขๆˆ็—‡ใจใฏ็•ฐใชใ‚Šใ€้ก”่ฒŒใฏ้€šๅธธใฏๆญฃๅธธใงใ‚ใ‚‹ใ€‚ไฝŽ่บซ้•ทใฏ่‘—ๆ˜Žใงใ€ๆœ€็ต‚่บซ้•ทใฏ่ปฝ็—‡ๅž‹ใง-3๏ฝž-4SDใ€้‡็—‡ๅž‹ใง-6SDไปฅไธ‹ใจใชใ‚‹ใ€‚ ใพใŸใ€ๆ‰‹ๆŒ‡ใƒป่ถณ่ถพใฎ็Ÿญ็ธฎใ‚„้–ข็ฏ€ๅผ›็ทฉๆ€งใŒ่‘—ใ—ใ„ใ€‚ๅ››่‚ขใฎๅคง้–ข็ฏ€ใงใ‚‚้–ข็ฏ€ๅผ›็ทฉๆ€งใฏ่‘—ๆ˜Žใงใ€่‘—ใ—ใ„ๅ†…ๅ่†ใพใŸใฏๅค–ๅ่†ใฎๅŽŸๅ› ใจใชใ‚‹ใ€‚ ใ—ใ‹ใ—ใ€่‚˜้–ข็ฏ€ใ‚„่‚ก้–ข็ฏ€ใงใฏๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ๆฏ”่ผƒ็š„ๆ—ฉๆœŸ๏ผˆ10ๆญณไปฃๅพŒๅŠใ‹ใ‚‰20ๆญณไปฃ๏ผ‰ใ‹ใ‚‰ไธ‹่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใ‚‚ใ—ใฐใ—ใฐ่ชใ‚ใ€ๆ—ฉ็™บใฎๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2201018" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pseudoachondroplasia"@en, "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0008322 ; + rdfs:label "Pseudoachondroplasia"@en, "ใŽใ›ใ„ใชใ‚“ใ“ใคใ‚€ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008322 ; skos:prefLabel "ๅฝๆ€ง่ปŸ้ชจ็„กๅฝขๆˆ็—‡"@ja . -:2201019 - :hasNotificationNumber "16" ; - terms:description "้ก”่ฒŒ็•ฐๅธธใ‚’ไผดใฃใŸๅคš็™บๆ€งๅ…ˆๅคฉๆ€ง่„ฑ่‡ผใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€1950ๅนดใƒฉใƒผใ‚ปใƒณใซใ‚ˆใ‚Šใฏใ˜ใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ ้–“่‘‰็ณป็ตๅˆ็ต„็น”ใฎๅฝขๆˆ็•ฐๅธธใŒไธปๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ€ๅ…ˆๅคฉๆ€งใƒปๅคš็™บๆ€งใฎ้ชจใŠใ‚ˆใณ้–ข็ฏ€็•ฐๅธธใ‚’ใใŸใ™ใ€‚ ่‡จๅบŠ็š„ใซใฏ้ก”่ฒŒ็•ฐๅธธ๏ผˆๅ‰้ ญ้ƒจ็ชๅ‡บใ€้ก”้ขไธญๅคฎ้ƒจใฎไฝŽๅฝขๆˆ๏ฝค็œผ้–“้–‹้›ขใ€ๅฐ้กŽใชใฉ๏ผ‰ใ€ๅคš็™บ้–ข็ฏ€้šœๅฎณ๏ผˆ่„ฑ่‡ผใ€ๆ‹˜็ธฎ๏ผ‰ใ€ ใธใ‚‰็ŠถใฎๆŒ‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็‰นใซ่‚กใ€่†ใ€่‚˜ใชใฉใฎๅคง้–ข็ฏ€ใฎๅคš็™บ่„ฑ่‡ผใจใ€ใปใผๅฟ…็™บใ™ใ‚‹ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎๅ†…ๅ่ถณใŒๅ•้กŒใจใชใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใฏ้ซ˜้ ปๅบฆใง่ชใ‚ใ€็‰นใซ้ ธๆคŽใฎๅพŒๅผฏใซไผดใ†้ ธ้ซ„็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ ๅฃ่“‹่ฃ‚ใ€ๆฐ—็ฎกใƒปๅ–‰้ ญ่ปŸๅŒ–็—‡ใ€้›ฃ่ดใ€ใชใฉ้ชจๆ ผๅค–ๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; - terms:identifier "2201019" ; - terms:source ; + + nando:hasNotificationNumber "17" ; + dcterms:description "้ก”่ฒŒ็•ฐๅธธใ‚’ไผดใฃใŸๅคš็™บๆ€งๅ…ˆๅคฉๆ€ง่„ฑ่‡ผใ‚’ๆœ‰ใ™ใ‚‹็–พๆ‚ฃใจใ—ใฆใ€1950ๅนดใƒฉใƒผใ‚ปใƒณใซใ‚ˆใ‚Šใฏใ˜ใ‚ใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸใ€‚ ้–“่‘‰็ณป็ตๅˆ็ต„็น”ใฎๅฝขๆˆ็•ฐๅธธใŒไธปๅ› ใจ่€ƒใˆใ‚‰ใ‚Œใ€ๅ…ˆๅคฉๆ€งใƒปๅคš็™บๆ€งใฎ้ชจใŠใ‚ˆใณ้–ข็ฏ€็•ฐๅธธใ‚’ใใŸใ™ใ€‚ ่‡จๅบŠ็š„ใซใฏ้ก”่ฒŒ็•ฐๅธธ๏ผˆๅ‰้ ญ้ƒจ็ชๅ‡บใ€้ก”้ขไธญๅคฎ้ƒจใฎไฝŽๅฝขๆˆ๏ฝค็œผ้–“้–‹้›ขใ€ๅฐ้กŽใชใฉ๏ผ‰ใ€ๅคš็™บ้–ข็ฏ€้šœๅฎณ๏ผˆ่„ฑ่‡ผใ€ๆ‹˜็ธฎ๏ผ‰ใ€ ใธใ‚‰็ŠถใฎๆŒ‡ใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็‰นใซ่‚กใ€่†ใ€่‚˜ใชใฉใฎๅคง้–ข็ฏ€ใฎๅคš็™บ่„ฑ่‡ผใจใ€ใปใผๅฟ…็™บใ™ใ‚‹ๆฒป็™‚ๆŠตๆŠ—ๆ€งใฎๅ†…ๅ่ถณใŒๅ•้กŒใจใชใ‚‹ใ€‚ ่„ŠๆŸฑๅค‰ๅฝขใฏ้ซ˜้ ปๅบฆใง่ชใ‚ใ€็‰นใซ้ ธๆคŽใฎๅพŒๅผฏใซไผดใ†้ ธ้ซ„็—‡ใ‚’ๅ‘ˆใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ ๅฃ่“‹่ฃ‚ใ€ๆฐ—็ฎกใƒปๅ–‰้ ญ่ปŸๅŒ–็—‡ใ€้›ฃ่ดใ€ใชใฉ้ชจๆ ผๅค–ๅˆไฝต็—‡ใ‚’ไผดใ†ใ“ใจใ‚‚ๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2201019" ; + dcterms:source ; a owl:Class ; - rdfs:label "Larsen syndrome"@en, "ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; + rdfs:label "Larsen syndrome"@en, "ใ‚‰ใƒผใ›ใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; skos:altLabel "Larsen็—‡ๅ€™็พค"@ja ; - skos:closeMatch mondo:MONDO_0007875 ; + skos:closeMatch obo:MONDO_0007875 ; skos:prefLabel "ใƒฉใƒผใ‚ปใƒณ็—‡ๅ€™็พค"@ja . -:2201020 - :hasNotificationNumber "5" ; - terms:description "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆfibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ€้–‹ๅฃ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚็—…็Šถใฎ้€ฒ่กŒใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆๆดปๅ‹•๏ผ‰ใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง้ชจๅŒ–ใฏไธปใจใ—ใฆๅฐๅ…ๆœŸใซๅง‹ใพใ‚‹ใ€‚ๆณจๅฐ„ใ‚„ๆ‰‹่ก“ใชใฉใฎๅŒป็™‚่กŒ็‚บใ‚’ๅซใ‚€ๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใจใ—ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—๏ผˆflare-up๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹็‚Ž็—‡ๆ€งใฎ็šฎไธ‹่ปŸ้ƒจ็ต„็น”่…ซ่„นใซๅผ•ใ็ถšใ„ใฆ้ชจๅŒ–ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅค–ๅ‚ทใฎใชใ„ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚„ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚’็ตŒใชใ„้ชจๅŒ–ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚่ถณใฎๆฏ่ถพใซๅ…ˆๅคฉๆ€งใฎๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚Šใ€ใใ‚Œไปฅๅค–ใซใ€ๆ‰‹ใฎๆฏๆŒ‡ใฎไฝŽๅฝขๆˆใ€ๅฐๆŒ‡ใฎๅผฏๆ›ฒใ€้•ท็ฎก้ชจ้ชจๅนน็ซฏ้ƒจใฎๅค–้ชจ่…ซใ€็ฆฟ้ ญใ€่ดๅŠ›้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201020" ; - terms:source ; - a owl:Class ; - rdfs:label "fibrodysplasia ossificans progressiva"@en, "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0003964, mondo:MONDO_0007606 ; + + nando:hasNotificationNumber "5" ; + dcterms:description "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡๏ผˆfibrodysplasia ossificans progressiva๏ผšFOP๏ผ‰ใฏใ€ๅ…จ่บซใฎ้ชจๆ ผ็ญ‹ใ‚„็ญ‹่†œใ€่…ฑใ€้ฑๅธฏใชใฉใฎ็ทš็ถญๆ€ง็ต„็น”ใŒ้€ฒ่กŒๆ€งใซ้ชจๅŒ–ใ—ใ€ใ“ใฎใŸใ‚ใซๅ››่‚ข้–ข็ฏ€ใฎๅฏๅ‹•ๅŸŸไฝŽไธ‹ใ‚„ๅผท็›ดใ€ไฝ“ๅนนใฎๅฏๅ‹•ๆ€งไฝŽไธ‹ใ‚„ๅค‰ๅฝขใ€้–‹ๅฃ้šœๅฎณใ‚’็”Ÿใ˜ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ“ใฎใŸใ‚็—…็Šถใฎ้€ฒ่กŒใจใจใ‚‚ใซๆ—ฅๅธธ็”Ÿๆดปๅ‹•ไฝœ๏ผˆๆดปๅ‹•๏ผ‰ใŒ้˜ปๅฎณใ•ใ‚Œใ‚‹ใ€‚็•ฐๆ‰€ๆ€ง้ชจๅŒ–ใฏไธปใจใ—ใฆๅฐๅ…ๆœŸใซๅง‹ใพใ‚‹ใ€‚ๆณจๅฐ„ใ‚„ๆ‰‹่ก“ใชใฉใฎๅŒป็™‚่กŒ็‚บใ‚’ๅซใ‚€ๅค–ๅ‚ทใ‚’ๅฅ‘ๆฉŸใจใ—ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—๏ผˆflare-up๏ผ‰ใจๅ‘ผใฐใ‚Œใ‚‹็‚Ž็—‡ๆ€งใฎ็šฎไธ‹่ปŸ้ƒจ็ต„็น”่…ซ่„นใซๅผ•ใ็ถšใ„ใฆ้ชจๅŒ–ใ‚’็”Ÿใ˜ใ‚‹ใ“ใจใŒๅคšใ„ใŒใ€ๅค–ๅ‚ทใฎใชใ„ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚„ใ€ใƒ•ใƒฌใ‚ขใ‚ขใƒƒใƒ—ใ‚’็ตŒใชใ„้ชจๅŒ–ใ‚‚ใ‚ใ‚‹ใ“ใจใŒใ‚ใ‹ใฃใฆใ„ใ‚‹ใ€‚่ถณใฎๆฏ่ถพใซๅ…ˆๅคฉๆ€งใฎๅฝขๆ…‹็•ฐๅธธใ‚’ไผดใ†ใ“ใจใŒๅคšใ„ใจใ„ใ†็‰นๅพดใŒใ‚ใ‚Šใ€ใใ‚Œไปฅๅค–ใซใ€ๆ‰‹ใฎๆฏๆŒ‡ใฎไฝŽๅฝขๆˆใ€ๅฐๆŒ‡ใฎๅผฏๆ›ฒใ€้•ท็ฎก้ชจ้ชจๅนน็ซฏ้ƒจใฎๅค–้ชจ่…ซใ€็ฆฟ้ ญใ€่ดๅŠ›้šœๅฎณใ‚’ไผดใ†ใ“ใจใŒใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201020" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fibrodysplasia ossificans progressiva"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ“ใฃใ‹ใ›ใ„ใ›ใ‚“ใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "FOP"@en ; + skos:closeMatch obo:MONDO_0003964, obo:MONDO_0007606 ; skos:prefLabel "้€ฒ่กŒๆ€ง้ชจๅŒ–ๆ€ง็ทš็ถญ็•ฐๅฝขๆˆ็—‡"@ja . -:2201021 - :hasNotificationNumber "9" ; - terms:description "ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณ้€้Žๆ€งใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚‹TRPV4 ๏ผˆtransient receptor potential cation channel, subfamily V, member 4๏ผ‰ใฎ ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ€ๅค‰ๅฎนๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Maroteauxๅž‹ใ€่„ŠๆคŽ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Kozlowskiๅž‹ใ€ ็Ÿญไฝ“ๅนน็—‡ใ€็ŸญๆŒ‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€งๆŒ‡้–ข็ฏ€็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใซใŠใ„ใฆใ‚‚ๆ‰ๅนณๆคŽใ€้–ข็ฏ€ใฎ่…ซๅคงใŠใ‚ˆใณๆ‹˜็ธฎใ€ ไฝŽ่บซ้•ทใชใฉใ‚’ๅ…ฑ้€šใฎ่กจ็พๅž‹ใจใ™ใ‚‹ใŒใ€้‡็—‡ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่„ŠๆŸฑใ‚„ๅ››่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขใ‚’ไผดใ„ใ‚„ใ™ใใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚„ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใŸใ‚ใ€ใใ‚Œใ‚‰ใซๅฏพใ™ใ‚‹ๆ•ดๅฝขๅค–็ง‘็š„ใชๅฏพๅฟœใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; - terms:identifier "2201021" ; - terms:source ; + + nando:hasNotificationNumber "10" ; + dcterms:description "ใ‚ซใƒซใ‚ทใ‚ฆใƒ ใ‚คใ‚ชใƒณ้€้Žๆ€งใƒใƒฃใƒณใƒใƒซใงใ‚ใ‚‹TRPV4 ๏ผˆtransient receptor potential cation channel, subfamily V, member 4๏ผ‰ใฎ ้บไผๅญ็•ฐๅธธใซใ‚ˆใฃใฆ็™บ็—‡ใ™ใ‚‹็—‡ๅ€™็พคใงใ€ๅค‰ๅฎนๆ€ง้ชจ็•ฐๅฝขๆˆ็—‡ใ€่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Maroteauxๅž‹ใ€่„ŠๆคŽ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡Kozlowskiๅž‹ใ€ ็Ÿญไฝ“ๅนน็—‡ใ€็ŸญๆŒ‡ใ‚’ไผดใ†ๅฎถๆ—ๆ€งๆŒ‡้–ข็ฏ€็—‡ใชใฉใŒๅซใพใ‚Œใ‚‹ใ€‚ใ„ใšใ‚Œใฎ็–พๆ‚ฃใซใŠใ„ใฆใ‚‚ๆ‰ๅนณๆคŽใ€้–ข็ฏ€ใฎ่…ซๅคงใŠใ‚ˆใณๆ‹˜็ธฎใ€ ไฝŽ่บซ้•ทใชใฉใ‚’ๅ…ฑ้€šใฎ่กจ็พๅž‹ใจใ™ใ‚‹ใŒใ€้‡็—‡ๅบฆใฏๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚่„ŠๆŸฑใ‚„ๅ››่‚ข้–ข็ฏ€ใฎๅค‰ๅฝขใ‚’ไผดใ„ใ‚„ใ™ใใ€ ๆ—ฉ็™บๆ€งใฎๅค‰ๅฝขๆ€ง้–ข็ฏ€็—‡ใ‚„ๅค‰ๅฝขๆ€ง่„ŠๆคŽ็—‡ใ‚’็™บ็—‡ใ—ใ‚„ใ™ใ„ใŸใ‚ใ€ใใ‚Œใ‚‰ใซๅฏพใ™ใ‚‹ๆ•ดๅฝขๅค–็ง‘็š„ใชๅฏพๅฟœใ‚’่ฆใ™ใ‚‹ใ“ใจใŒๅคšใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2201021" ; + dcterms:source ; a owl:Class ; - rdfs:label "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders"@en, "๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders"@en, "ใฆใƒใ‚ใƒผใ‚‹ใดใƒผใถใ„4ใ„ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "TRPV4-associated disorders"@en ; + skos:closeMatch obo:MONDO_0018240 ; skos:prefLabel "๏ผด๏ผฒ๏ผฐ๏ผถ๏ผ”็•ฐๅธธ็—‡"@ja . -:2201022 - :hasNotificationNumber "4" ; - terms:description "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฏไธปใจใ—ใฆ็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…จ่บซๆ€งใซใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ๆฟƒๅŒ–็•ฐ้ชจ็—‡ใ€้ชจๆ–‘็ด‹็—‡ใ€้ชจ็ทš็Šถ็—‡ใ€ๆต่‹้ชจ็—‡ใ€็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ใ€้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ใ€้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡๏ผˆPyle็—…๏ผ‰ใ€้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ใ€็กฌๅŒ–ๆ€ง้ชจ็—‡ใชใฉใ‚’ๅซใ‚€ใ€‚X็ทšๆ‰€่ฆ‹ใจใ—ใฆใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ€้ชจ่‚ฅๅŽšใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏ้ ญ่“‹ๅ† ใ‚„้ ญ่“‹ๅบ•ใ€ไธ‹้กŽ้ชจใ€ๅ››่‚ข้•ท็ฎก้ชจใ‚„้Ž–้ชจใชใฉใซใ—ใฐใ—ใฐ่ชใ‚ใ‚‹ใ€‚้ชจ็กฌๅŒ–ๆ€ง็—…ๅค‰ใซไผดใ†่„ณ็ฅž็ตŒ้šœๅฎณใ‚„ๆ˜“้ชจๆŠ˜ๆ€งใ€้ชจ้ซ„็‚Žใชใฉใฎ็—‡็Šถใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€‚่„ณ็ฅž็ตŒใฎๅœง่ฟซใ‚’่งฃ้™คใ™ใ‚‹ใŸใ‚ใซใ€ๆ‰‹่ก“ๅŠ ็™‚ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ชจๆŠ˜ๆฒป็™’ใฏๆฅตใ‚ใฆ้…ๅปถใ—ใ€ใ—ใฐใ—ใฐๅฝ้–ข็ฏ€ใซ่‡ณใ‚‹ใ€‚ใพใŸใ€้ชจ้ซ„็‚Žใฏ้ทๅปถๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚"@ja ; - terms:identifier "2201022" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃใฏไธปใจใ—ใฆ็ ด้ชจ็ดฐ่ƒžใฎๆฉŸ่ƒฝ้šœๅฎณใซใ‚ˆใ‚Šใ€ๅ…จ่บซๆ€งใซใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ใใŸใ™็–พๆ‚ฃ็พคใงใ‚ใ‚Šใ€ๆฟƒๅŒ–็•ฐ้ชจ็—‡ใ€้ชจๆ–‘็ด‹็—‡ใ€้ชจ็ทš็Šถ็—‡ใ€ๆต่‹้ชจ็—‡ใ€็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡ใ€้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ใ€้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡๏ผˆPyle็—…๏ผ‰ใ€้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡ใ€็กฌๅŒ–ๆ€ง้ชจ็—‡ใชใฉใ‚’ๅซใ‚€ใ€‚X็ทšๆ‰€่ฆ‹ใจใ—ใฆใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ€้ชจ่‚ฅๅŽšใŒ็‰นๅพด็š„ใงใ‚ใ‚‹ใŒใ€ใ“ใ‚Œใ‚‰ใฏ้ ญ่“‹ๅ† ใ‚„้ ญ่“‹ๅบ•ใ€ไธ‹้กŽ้ชจใ€ๅ››่‚ข้•ท็ฎก้ชจใ‚„้Ž–้ชจใชใฉใซใ—ใฐใ—ใฐ่ชใ‚ใ‚‹ใ€‚้ชจ็กฌๅŒ–ๆ€ง็—…ๅค‰ใซไผดใ†่„ณ็ฅž็ตŒ้šœๅฎณใ‚„ๆ˜“้ชจๆŠ˜ๆ€งใ€้ชจ้ซ„็‚Žใชใฉใฎ็—‡็Šถใ‚’ไผดใ„ใ‚„ใ™ใ„ใ€‚่„ณ็ฅž็ตŒใฎๅœง่ฟซใ‚’่งฃ้™คใ™ใ‚‹ใŸใ‚ใซใ€ๆ‰‹่ก“ๅŠ ็™‚ใŒๅฟ…่ฆใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚้ชจๆŠ˜ๆฒป็™’ใฏๆฅตใ‚ใฆ้…ๅปถใ—ใ€ใ—ใฐใ—ใฐๅฝ้–ข็ฏ€ใซ่‡ณใ‚‹ใ€‚ใพใŸใ€้ชจ้ซ„็‚Žใฏ้ทๅปถๅŒ–ใ—ใ‚„ใ™ใ„ใ€‚"@ja ; + dcterms:identifier "NANDO:2201022" ; + dcterms:source ; a owl:Class ; - rdfs:label "osteosclerotic diseases"@en, "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Osteosclerotic diseases"@en, "ใ“ใคใ“ใ†ใ‹ใ›ใ„ใ—ใฃใ‹ใ‚“"@ja-Hira, "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002933 ; skos:prefLabel "้ชจ็กฌๅŒ–ๆ€ง็–พๆ‚ฃ"@ja . -:2201023 - :hasNotificationNumber "4" ; - terms:description "ใ‚ซใƒ†ใƒ—ใ‚ทใƒณK๏ผˆCTSK๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; - terms:identifier "2201023" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:description "ใ‚ซใƒ†ใƒ—ใ‚ทใƒณK๏ผˆCTSK๏ผ‰ใฎ้บไผๅญ็•ฐๅธธใซใ‚ˆใ‚Š็™บ็—‡ใ—ใ€ๅ…จ่บซๆ€งใ€ใณใพใ‚“ๆ€งใฎ้ชจ็กฌๅŒ–ใ‚’ๅ‘ˆใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅŠฃๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201023" ; + dcterms:source ; a owl:Class ; - rdfs:label "Pycnodysostosis"@en, "ๆฟƒๅŒ–็•ฐ้ชจ็—‡"@ja ; - rdfs:seeAlso , , ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0009940 ; + rdfs:label "Pycnodysostosis"@en, "ใฎใ†ใ‹ใ„ใ“ใคใ—ใ‚‡ใ†"@ja-Hira, "ๆฟƒๅŒ–็•ฐ้ชจ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009940 ; skos:prefLabel "ๆฟƒๅŒ–็•ฐ้ชจ็—‡"@ja . -:2201024 - :hasNotificationNumber "4" ; - terms:identifier "2201024" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201024" ; + dcterms:source ; a owl:Class ; - rdfs:label "osteopoikilosis"@en, "้ชจๆ–‘็ด‹็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; - skos:closeMatch mondo:MONDO_0001414 ; + rdfs:label "Osteopoikilosis"@en, "ใ“ใคใฏใ‚“ใ‚‚ใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ชจๆ–‘็ด‹็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0001414 ; skos:prefLabel "้ชจๆ–‘็ด‹็—‡"@ja . -:2201025 - :hasNotificationNumber "4" ; - terms:identifier "2201025" ; - terms:source ; + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201025" ; + dcterms:source ; a owl:Class ; - rdfs:label "Osteopathia Striata"@en, "้ชจ็ทš็Šถ็—‡"@ja ; - rdfs:seeAlso ; - rdfs:subClassOf ; + rdfs:label "Osteopathia striata"@en, "ใ“ใคใ›ใ‚“ใ˜ใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้ชจ็ทš็Šถ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; skos:prefLabel "้ชจ็ทš็Šถ็—‡"@ja . + + nando:hasNotificationNumber "16" ; + dcterms:description "ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎใ€ใใ‚‚็ŠถๆŒ‡ใ€่€ณไป‹ใฎๅค‰ๅฝขใ€ๅดๅผฏ็—‡ใ€็ดฐใ้•ทใ„ๅ››่‚ขใชใฉใ‚’ไธปๅพดใจใ™ใ‚‹ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ ไฝ“ๅž‹็š„ใซใฏใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใซ้กžไผผใ™ใ‚‹็‚นใŒๅคšใ„ใŒใ€ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใงใฏ้–ข็ฏ€ๅผ›็ทฉๆ€งใ‚’ๅ‘ˆใ™ใ‚‹ใฎใซๅฏพใ—ใ€ๆœฌ็—‡ใงใฏ้–ข็ฏ€ใฏๆ‹˜็ธฎใ™ใ‚‹ใ€‚ ็‰นใซๆ‰‹ๆŒ‡ใฎๅฑˆๆ›ฒๆ‹˜็ธฎใ‚’่ชใ‚ใ‚‹ใ€‚ใพใŸใ€ใƒžใƒซใƒ•ใ‚กใƒณ็—‡ๅ€™็พคใงใ—ใฐใ—ใฐ่ชใ‚ใ‚‰ใ‚Œใ‚‹็œผ็—‡็Šถใ‚„ๅคง่ก€็ฎก็ณปใฎๅˆไฝต็—‡ใฏไผดใ‚ใชใ„ใ€‚ ใ—ใฐใ—ใฐไนใ—ใ„็šฎไธ‹่„‚่‚ช็ต„็น”ใ€่ˆŸ็Šถ้ ญใ‚’ไผดใ†ใ€‚้ ไฝๅž‹ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎ็—‡๏ผˆdistal arthrogryposis๏ผ‰9ๅž‹ใซๅˆ†้กžใ•ใ‚Œใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201026" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Beals syndrome"@en, "ใณใƒผใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ“ใƒผใƒซใ‚บ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Beals็—‡ๅ€™็พค"@ja, "Congenital contractural arachnodactyly"@en, "้ ไฝๅž‹ๅคš็™บๆ€ง้–ข็ฏ€ๆ‹˜็ธฎ็—‡9ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0007363 ; + skos:prefLabel "ใƒ“ใƒผใƒซใ‚บ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "3" ; + dcterms:description "Bean็—‡ๅ€™็พคใจใ‚‚ๅ‘ผใฐใ‚Œใ€ๅ…จ่บซใฎ็šฎ่†šใŠใ‚ˆใณๆถˆๅŒ–็ฎกใ‚’ไธญๅฟƒใจใ—ใŸๅ†…่‡“ใซ็”Ÿใ˜ใ‚‹้™่„ˆๅฅ‡ๅฝขใ‚’็‰นๅพดใจใ™ใ‚‹ใ€‚็šฎ่†š็—…ๅค‰ใŒใ‚ดใƒ ไนณ้ฆ–ใซไผผใฆใŠใ‚Šใ€้’่‰ฒใŒใ‹ใฃใฆใ„ใ‚‹ใŸใ‚ใ€1958ๅนดใซWilliam Beanใซใ‚ˆใ‚Šblue rubber bleb nevus syndrome (้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค)ใจๅ‘ฝๅใ•ใ‚ŒใŸใ€‚ๅ…จ่บซใฎ็šฎ่†šไปฅๅค–ใซใ€ๆถˆๅŒ–็ฎกใ‚’ใฏใ˜ใ‚ใจใ™ใ‚‹ๅคš่‡“ๅ™จใซ็—…ๅค‰ใŒ่ชใ‚ใ‚‰ใ‚Œใ€ใจใใซ้‡็ฏคใชๅ‡บ่ก€ๆ€งๅˆไฝต็—‡ใ‚’่ตทใ“ใ™1)ใ€‚ใพใŸใ€ๅฅ‡ๅฝข่ก€็ฎกๅ†…ใซใŠใ„ใฆๅฑ€ๆ‰€็š„ใชๅ‡ๅ›บๅ› ๅญๆถˆ่ฒปใŒ็”Ÿใ˜ใ€ๅ…จ่บซๆ€ง่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚’ๅˆไฝตใ™ใ‚‹ใ“ใจใŒใ‚ใ‚‹ใ€‚ๅคšใใฏๆ•ฃ็™บไพ‹ใ ใŒ้บไผๆ€งใฎๅ ดๅˆใซใฏๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใ‚’็คบใ™ใ€‚"@ja ; + dcterms:identifier "NANDO:2201027" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Blue rubber bleb nevus syndrome"@en, "ใ‚ใŠใ„ใ‚ใ”ใ‚€ใพใ‚Šใ‚ˆใ†ใผใฏใ‚“ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Bean็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0007203 ; + skos:prefLabel "้’่‰ฒใ‚ดใƒ ใพใ‚Šๆง˜ๆฏๆ–‘็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:description "ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€้ ญ้ š้ƒจใ€ๅ››่‚ขใ€ไฝ“ๅนนใชใฉใฎๅ…จ้ ˜ๅŸŸใซ็™บ็—‡ใ™ใ‚‹ๅทจๅคง่…ซ็˜คๆ€งใฎ้™่„ˆๅฝขๆˆ็•ฐๅธธใงใ‚ใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€้™่„ˆ้กžไผผใฎ่ก€็ฎก่…”ใŒๅข—็”Ÿใ™ใ‚‹ไฝŽๆต้€Ÿใฎ่ก€ๆถฒ่ฒฏ็•™ๆ€ง็—…ๅค‰ใงใ‚ใ‚‹ใ€‚ๅ…ˆๅคฉ็•ฐๅธธใฎไธ€็จฎใจ่€ƒใˆใ‚‰ใ‚Œใ‚‹ใŒใ€ๅญฆ็ซฅๆœŸใ‚„ๆˆไบบๅพŒใฎๅพŒๅคฉ็š„ใช็™บ็—‡ใ‚‚ๅฐ‘ใชใใชใ„ใ€‚ๅพ“ๆฅใ€Œๆตท็ถฟ็Šถ่ก€็ฎก่…ซใ€ใ€Œ็ญ‹่‚‰ๅ†…่ก€็ฎก่…ซใ€ใ€Œ้™่„ˆๆ€ง่ก€็ฎก่…ซใ€็ญ‰ใจๅ‘ผใฐใ‚ŒใฆใใŸใŒใ€่ก€็ฎก่…ซใƒป่„ˆ็ฎกๅฅ‡ๅฝขใฎๅ›ฝ้š›ๅญฆไผšใงใ‚ใ‚‹ISSVA๏ผˆInternational Society for the Study of Vascular Anomalies๏ผ‰ใŒๆๅ”ฑใ™ใ‚‹ISSVAๅˆ†้กžใงใฏใ€ใ€Œ้™่„ˆๅฅ‡ๅฝขใ€ใจใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ˜ไธ€็ต„็น”ๅ†…ใง่พบ็ธๆ˜Ž็žญใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ‹ใ‚‰ใ€่พบ็ธไธๆ˜Ž็žญใง่ค‡ๆ•ฐ่‡“ๅ™จใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใพใงๆง˜ใ€…ใช็—…ๅค‰ใŒใ‚ใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏ้›ฃๆฒปใงๅคš็จฎใฎ้šœๅฎณใ‚’ใฒใใŠใ“ใ™ใ€‚็—…็ŠถใฏๅŠ ้ฝขใ€ๅฆŠๅจ ใ€ๅค–ๅ‚ทใชใฉใฎ่ฆๅ› ใซใ‚ˆใ‚Š้€ฒ่กŒใ—ใ€ๅทจๅคงใชใ‚‚ใฎใงใฏ่ก€ๆถฒๅ‡ๅ›บ็•ฐๅธธใ‚„ๅฟƒไธๅ…จใซ่‡ณใ‚‹ใ€‚้™่„ˆๅฅ‡ๅฝขใฎๆฒป็™‚ๆณ•ใจใ—ใฆใฏไธปใซๅค–็ง‘็š„ๅˆ‡้™คใจ็กฌๅŒ–็™‚ๆณ•ใŒ้ธๆŠžใ•ใ‚Œใ‚‹ใŒใ€ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใงใฏๅฎŒๅ…จๅˆ‡้™คใฏ้‡่ฆๆฉŸ่ƒฝใฎๅ–ชๅคฑใซใคใชใŒใ‚Šใ†ใ‚‹ใŸใ‚ๅ›ฐ้›ฃใงใ€้ƒจๅˆ†ๅˆ‡้™คใฏ่‡ดๆญป็š„ๅคง้‡ๅ‡บ่ก€ใซใคใชใŒใ‚Šใ€็กฌๅŒ–็™‚ๆณ•ใฏๆฒป็™‚ๅŠนๆžœใŒ้™ๅฎš็š„ใ‹ใคไธ€ๆ™‚็š„ใงๆ‚ชๅŒ–ใซใคใชใŒใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ๅทจๅคง้™่„ˆๅฅ‡ๅฝขใฏใ€้ซ˜ๅบฆ้›ฃๆฒปๆ€งใซ้€ฒ่กŒใ—ใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใซใ‚ˆใ‚‹่‡ดๆญป็š„ใช็—…ๆ…‹ใ‚‚ใ‚ใ‚‹ใŸใ‚ใ€ๅฏพ็—‡็™‚ๆณ•ใ‚‚ๅซใ‚ใฆ็”Ÿๆถฏใซใ‚ใŸใ‚‹้•ทๆœŸ็™‚้คŠใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201028" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gigantic venous malformation"@en, "ใใ‚‡ใ ใ„ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„"@ja-Hira, "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Huge venous malformation"@en ; + skos:prefLabel "ๅทจๅคง้™่„ˆๅฅ‡ๅฝข"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:description "้™่„ˆๅฅ‡ๅฝขใฏใ€่ƒŽ็”ŸๆœŸใฎ่„ˆ็ฎกๅฝขๆˆ้Ž็จ‹ใฎ็•ฐๅธธใฎไธ€ใคใงใ‚ใ‚‹ใ€‚ใ€€็—…ๅค‰ๅ†…ใซๅ‹•้™่„ˆ็Ÿญ็ตก(ใ‚ทใƒฃใƒณใƒˆ)ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒใ—ใŸ็•ฐๅธธ่ก€็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVAๅˆ†้กžใงใฏใ€้ซ˜ๆต้€Ÿๅž‹ใฎ่„ˆ็ฎกๅฅ‡ๅฝขใซไฝ็ฝฎไป˜ใ‘ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝขใซใŠใ„ใฆๆตๅ…ฅๅ‹•่„ˆใจๆตๅ‡บ้™่„ˆใฎ็•ฐๅธธๅปๅˆ้ƒจใŒ่ค‡้›‘ใซ็ถฒ็Šถใซ็ตกใ‚€ๆง˜ๅญใฏใ€ใ—ใฐใ—ใฐใƒŠใ‚คใƒ€ใ‚น(nidus, ใ€Œๅทฃใ€ใฎๆ„)ใจ่กจ็พใ•ใ‚Œใ‚‹ใ€‚ๅ…ˆๅคฉๆ€งใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใŒใ€ไนณๅนผๅ…ๆœŸใซใฏใปใผ็„ก็—‡ๅ€™ใงใ€ๅญฆ็ซฅๆœŸไปฅ้™ใซๆฐ—ไป˜ใ‹ใ‚Œใ‚‹ใ“ใจใ‚‚ๅฐ‘ใชใใชใ„ใ€‚้ ญ้ ธ้ƒจใ€ๅ››่‚ขใ€ไฝ“ๅนน้ƒจใชใฉๅ…จ่บซใฉใฎ้ƒจไฝใซใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็—…ๅค‰ใฎๅฑ€ๅœจใฏใ€ไธ€ใƒถๆ‰€ใซ้™ๅฑ€ใ™ใ‚‹ใ‚‚ใฎใ€ๅบƒ็ฏ„ๅ›ฒใซใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ™ใ‚‹ใ‚‚ใฎใ€่ค‡ๆ•ฐใฎ้ƒจไฝใซๅคš็™บใ™ใ‚‹ใ‚‚ใฎใชใฉๆง˜ใ€…ใงใ‚ใ‚‹ใ€‚ๅฐๅ…ใซใŠใ„ใฆๅทจๅคงใจใ™ใ‚‹็›ฎๅฎ‰ใฏใ€ๆœฌไบบใฎๆ‰‹ๆŽŒๅคงไปฅไธŠใฎๅบƒใŒใ‚Šใ‚’็คบใ™ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๅ‹•้™่„ˆๅฅ‡ๅฝขใฏๆˆ้•ทใจใจใ‚‚ใซๅข—ๅคงใ€ๅข—ๆ‚ชใ™ใ‚‹ๅ‚พๅ‘ใŒใ‚ใ‚Šใ€็—…ๅค‰ใฎ้€ฒ่กŒใซใคใ‚Œใฆใ€็–ผ็—›ใ€ๆฝฐ็˜ใ€ๆ„ŸๆŸ“ใ€ๆฉŸ่ƒฝ้šœๅฎณใชใฉ็—‡็Šถใ ใ‘ใงใชใใ€ๅคง้‡ๅ‡บ่ก€ใ‚„ใ‚ทใƒฃใƒณใƒˆ้‡ๅข—ๅŠ ใซใ‚ˆใ‚‹ๅฟƒไธๅ…จใชใฉ็”Ÿๅ‘ฝใฎๅฑๆฉŸใ‚’ๅŠใผใ—ๅพ—ใ‚‹ใ€‚็ฉๆฅต็š„ๆฒป็™‚ใฏใ€ๅค–็ง‘ๆ‰‹่ก“๏ผˆๅˆ‡้™คใ€ๅ†ๅปบใ€ๅˆ‡ๆ–ญ๏ผ‰ใ‚„่ก€็ฎกๅ†…ๆฒป็™‚๏ผˆ่ก€็ฎกๅกžๆ “่ก“ใ€็กฌๅŒ–็™‚ๆณ•๏ผ‰ใชใฉใŒใ‚ใ‚‹ใŒใ€ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝขใฏใ—ใฐใ—ใฐๆ นๆฒปๅ›ฐ้›ฃใงใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹ๅŒปๅญฆ็š„็ฎก็†ใ‚’ๅฟ…่ฆใจใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201029" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Huge arteriovenous malformation"@en, "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„"@ja-Hira, "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Gigantic arteriovenous malformation"@en ; + skos:prefLabel "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข"@ja . + + + nando:hasNotificationNumber "6" ; + dcterms:description "ใ‚ฏใƒชใƒƒใƒšใƒซ๏ฝฅใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พคใฏๅ››่‚ขใฎใ†ใกไธ€่‚ขๅˆใฏใใ‚ŒไปฅไธŠใฎใปใผๅ…จไฝ“ใซใ‚ใŸใ‚‹ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใซใ€็‰‡ๅด่‚ฅๅคง็—‡ใ‚’ไผดใฃใŸ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ๆททๅˆๅž‹่„ˆ็ฎกๅฅ‡ๅฝขใฏ่ƒŽ็”ŸๆœŸใซใŠใ‘ใ‚‹่„ˆ็ฎกๅฝขๆˆใฎ็•ฐๅธธใงใ‚ใ‚Šใ€่ค‡ๆ•ฐใฎ่„ˆ็ฎกๆˆๅˆ†๏ผˆๅ‹•่„ˆใƒป้™่„ˆใƒปๆฏ›็ดฐ่ก€็ฎกใƒปใƒชใƒณใƒ‘็ฎก๏ผ‰ใ‚’ๆœ‰ใ—ใ€ๆ‹กๅผตใƒป่›‡่กŒๅˆใฏ้›†็ฐ‡ใ—ใŸ็•ฐๅธธ่„ˆ็ฎกใฎๅข—็”Ÿใ‚’ไผดใ†็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๆœฌ็—‡ๅ€™็พคใฎ่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใจ็‰‡ๅด่‚ฅๅคงใฏ็”Ÿไธ‹ๆ™‚ใ‹ใ‚‰ๅนผๅ…ๆœŸใซๆฐ—ใฅใ‹ใ‚Œใ€ๅŠ ้ฝขใƒปๆˆ้•ทใซไผดใฃใฆๅข—ๆ‚ชใ™ใ‚‹ใ€‚็‰‡ๅด่‚ฅๅคงใฏใปใจใ‚“ใฉใŒ่„ˆ็ฎกๅฅ‡ๅฝขใจๅŒๅดใซ็”Ÿใ˜ใ‚‹ใŒใ€ใพใ‚Œใซๅฏพๅดใซ็”Ÿใ˜ใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใฏๅคš่‡“ๅ™จใซใพใŸใŒใ‚Š่พบ็ธไธๆ˜Ž็žญใงใณใพใ‚“ๆ€งใซๅˆ†ๅธƒใ—ใ€ๅผทใ„็–ผ็—›ใ‚„ๆฝฐ็˜ใฏ้›ฃๆฒปๆ€งใฎๅ‚พๅ‘ใซใ‚ใ‚‹ใ€‚ๅ‡ๅ›บ็ทšๆบถ็ณปใ‚„่ก€่กŒๅ‹•ๆ…‹ใซใ‚‚ๅฝฑ้Ÿฟใ‚’ๅŠใผใ—ใ€ๆ„ŸๆŸ“ใ€ๅ‡บ่ก€ใ‚„ๅฟƒไธๅ…จใชใฉใซใ‚ˆใ‚Š่‡ดๆญป็š„ใช็—…ๆ…‹ใซ่‡ณใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚ใ€€็—…็š„้Žๆˆ้•ทใซๅฏพใ™ใ‚‹ๆ นๆฒป็š„ๆฒป็™‚ๆณ•ใฏ็„กใใ€้ชจ่ปŸ้ƒจ็ต„็น”ใฎ่‚ฅๅคงใƒป้Žๅ‰ฐ็™บ่‚ฒใซๅฏพใ—ใฆใฏใ€ไธ‹่‚ข่ฃœ้ซ˜่ฃ…ๅ…ทใ‚„ๅค–็ง‘็š„็Ÿฏๆญฃๆ‰‹่ก“ใ‚„ใ€็—…ๅค‰ๅˆ‡้™คใชใฉใฎๆธ›้‡ๆ‰‹่ก“ใชใฉใŒ่กŒใชใ‚ใ‚Œใ‚‹ใ€‚่„ˆ็ฎกๅฅ‡ๅฝขใซๅฏพใ—ใฆใฏใใฎๆง‹ๆˆ่„ˆ็ฎกใซใ‚ˆใ‚Šๆฒป็™‚ใฏ็•ฐใชใ‚‹ใ€‚ๅผพๆ€งใ‚นใƒˆใƒƒใ‚ญใƒณใ‚ฐใซใ‚ˆใ‚‹ๅœง่ฟซใ€ๅˆ‡้™คๆ‰‹่ก“ใ€็กฌๅŒ–็™‚ๆณ•ใ€ๅกžๆ “่ก“ใชใฉใŒ็”จใ„ใ‚‰ใ‚Œใ‚‹ใŒใ€ๆœฌ็—‡ๅ€™็พคใฎๅทจๅคง่„ˆ็ฎกๅฅ‡ๅฝข็—…ๅค‰ใฏใ“ใ‚Œใ‚‰ใฎๆฒป็™‚ใซๆŠตๆŠ—ๆ€งใงใ‚ใ‚‹ใ“ใจใŒๅคšใใ€็”Ÿๆถฏใซใ‚ใŸใ‚‹็ถ™็ถš็š„็ฎก็†ใ‚’่ฆใ™ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201030" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Klippel-Trenaunay-Weber syndrome"@en, "ใใ‚Šใฃใบใ‚‹ใƒปใจใ‚Œใฎใญใƒผใƒปใ†ใ‡ใƒผใฐใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Klippel-Trenanay-Weber็—‡ๅ€™็พค"@ja, "Klippelโ€“Trรฉnaunay syndrome"@en ; + skos:closeMatch obo:MONDO_0007864 ; + skos:prefLabel "ใ‚ฏใƒชใƒƒใƒšใƒซใƒปใƒˆใƒฌใƒŽใƒใƒผใƒปใ‚ฆใ‚งใƒผใƒใƒผ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "7" ; + dcterms:description "ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ๏ผˆprimary lymphedema๏ผ‰ใฏใ€็™Œๆ‰‹่ก“ใซใŠใ‘ใ‚‹ใƒชใƒณใƒ‘็ฏ€้š”ๆธ…็ญ‰ใฎไฝ•ใ‚‰ใ‹ใฎ่ช˜ๅ› ๅพŒใซ็™บ็—‡ใ™ใ‚‹ไบŒๆฌกๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใจๅŒบๅˆฅใ•ใ‚Œใ€ใƒชใƒณใƒ‘็ฎกใฎๅ…ˆๅคฉ็š„ไฝŽๅฝขๆˆใƒป็„กๅฝขๆˆใ‚„ๆฉŸ่ƒฝไธๅ…จใซใ‚ˆใ‚Šใ€ๅ››่‚ขใ€็‰นใซไธ‹่‚ขใ‚’ไธญๅฟƒใซใƒชใƒณใƒ‘ใ†ใฃๆปž๏ผˆๆตฎ่…ซ๏ผ‰ใ‚’็™บ็—‡ใ—ๆ…ขๆ€ง็š„ใซ็ตŒ้Žใ™ใ‚‹็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€็—‡็Šถใƒป็ตŒ้Žใฏๅคšๆง˜ใงใ‚ใ‚‹ใŒใ€ๆตฎ่…ซใซใ‚ˆใ‚Š่‚ฅๅคงใ—ใŸๅ››่‚ขใฎๆ•ดๅฎนๆ€งใฎๅ•้กŒใ‚„ๆ„ŸๆŸ“ใ‚„ใฉใฎๆ‚ฃ้ƒจใซ็ถš็™บใ™ใ‚‹ๅ•้กŒใซใ‚ˆใฃใฆ็”Ÿๆถฏใซใ‚ใŸใ‚Š่บซไฝ“็š„ใƒป็ฒพ็ฅž็š„่‹ฆ็—›ใจใชใ‚‹้›ฃๆฒปๆ€ง็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚ใ€€ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใฏใ€็™บ็—‡ๆ™‚ๆœŸใซใ‚ˆใ‚Šๅ…ˆๅคฉๆ€ง๏ผˆ1ๆญณๆœชๆบ€๏ผ‰ใ€ๆ—ฉ็™บๆ€ง๏ผˆ1๏ฝž35ๆญณ๏ผ‰ใ€้…็™บๆ€ง๏ผˆ36ๆญณไปฅไธŠ๏ผ‰ใฎ3ๅž‹ใซๅˆ†้กžใ•ใ‚Œใ‚‹๏ผˆKinmonthใฎๅˆ†้กž๏ผ‰ใ€‚ไธ€ๆ–นใ€ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซใฏไป–ใฎ็‰นๅพด็š„ใช็—‡็Šถใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใฎไธ€็—‡็Šถใงใ‚ใ‚‹ๅ ดๅˆใ‚‚ใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘ๆตฎ่…ซใฎ้–ข้€ฃ้บไผๅญใŒๆฌกใ€…ใจ็™บ่ฆ‹ใ•ใ‚ŒใฆใŠใ‚Šใ€ใใ‚Œใ‚‰ใ‚’ๅซใ‚ใฆ็—…ๆ…‹็™บ็”ŸๆฉŸๅบใฎ็†่งฃใŒ้€ฒใ‚€ใซใคใ‚Œใฆใ€ๅˆ†้กžใฏไปŠๅพŒใ‚‚ไฟฎๆญฃใ‚’็นฐใ‚Š่ฟ”ใ™ใจไบˆๆƒณใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201031" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary lymphedema"@en, "ใ’ใ‚“ใฑใคใ›ใ„ใ‚Šใ‚“ใฑใตใ—ใ‚…"@ja-Hira, "ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019175 ; + skos:prefLabel "ๅŽŸ็™บๆ€งใƒชใƒณใƒ‘ๆตฎ่…ซ"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:description "ใƒชใƒณใƒ‘็ฎก่…ซใฏไธปใซๅฐๅ…๏ผˆๅคšใใฏๅ…ˆๅคฉๆ€ง๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธปไฝ“ใจใ—ใŸ่…ซ็˜คๆ€ง็—…ๅค‰ใงใ‚ใ‚Šใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅคšใใฎ็—‡ไพ‹ใงใฏ็กฌๅŒ–็™‚ๆณ•ใ‚„ๅค–็ง‘็š„ๅˆ‡้™ค็ญ‰ใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้‡็—‡ไพ‹ใฏใ—ใฐใ—ใฐๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆฐ—้“้–‰ๅกžใชใฉใฎๆฉŸ่ƒฝ็š„ใชๅ•้กŒใ‚„ๆ•ดๅฎน็š„ใชๅ•้กŒใ‚’ๆŠฑใˆใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVA๏ผˆInternational Society of Studying Vascular Anomaly, ๅ›ฝ้š›่ก€็ฎกๅฅ‡ๅฝข็ ”็ฉถๅญฆไผš๏ผ‰ๅˆ†้กžใซใŠใ„ใฆใฏ่„ˆ็ฎก็—…ๅค‰ใฎไธ€ใคใจใ—ใฆใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใซๅซใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅ—ใ‘ใฆๆœ€่ฟ‘ใงใฏใƒชใƒณใƒ‘็ฎก่…ซใ‚’ใ€Œใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ใจๅ‘ผใถใ“ใจใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚่‹ฑ่ชžๅใฏlymphangiomaใ€cystic or common lymphatic malformationใ€cystic hygromaใชใฉใ€‚ใƒชใƒณใƒ‘็ฎก่…ซใ‚’็—…ๅค‰ใฎไธ€้ƒจใซๅซใ‚€ใ€ใ‚ˆใ‚Š่ค‡้›‘ใช็—‡ๅ€™็พคใŒใ„ใใคใ‹็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผˆKlippel-Trenaunay ็—‡ๅ€™็พคใชใฉ๏ผ‰ใ€่จบๆ–ญใƒปๅฎš็พฉใซใคใ„ใฆใฏใพใ ไธ็ขบๅฎšใชใจใ“ใ‚ใŒใ‚ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏใƒชใƒณใƒ‘็ฎก่…ซใจๅŒๆง˜ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใซใ‚ˆใ‚‹ๆตธๆฝคๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ใŒใ€ๆบถ้ชจๆ€งๅค‰ๅŒ–ใ‚„ๅคš่‡“ๅ™จใงใฎ็™บ็”Ÿใ€ไนณ็ณœ่ƒธๆฐดใƒป่…นๆฐดใชใฉใฎใƒชใƒณใƒ‘ๆผใชใฉๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคšใใŒ้›ฃๆฒปๆ€งใงใ€็พๆ™‚็‚นใงใฏ็ขบๅฎŸใซๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ไผผใŸใ‚ˆใ†ใช็—‡็Šถใฎใ‚ดใƒผใƒใƒ ็—…ใฏ้ชจๆบถ่งฃ็—‡็ŠถใŒใ‚ˆใ‚Š้ก•่‘—ใงใ‚ใ‚‹ใŒใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใฎ้‘‘ๅˆฅใฏใฏใฃใใ‚Šใ—ใชใ„ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏ่‹ฑ่ชžๅใงใฏlymphangiomatosisใ€generalized lymphatic anomalyใชใฉใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ€€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใƒชใƒณใƒ‘็ฎก่…ซใฏ้‘‘ๅˆฅใŒ้›ฃใ—ใใ€็พๆ™‚็‚นใงใฏๆ˜Ž็ขบใซๅˆ†้กžใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซๆง˜็—…ๅค‰ใŒ้›ขใ‚ŒใŸไฝ็ฝฎใซ่ค‡ๆ•ฐใ‚ใฃใŸใ‚Šใ€็—…ๅค‰ใŒๆ‹กๅคงใ€ๆตธๆฝคๅ‚พๅ‘ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201032" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lymphangioma"@en, "ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…"@ja-Hira, "ใƒชใƒณใƒ‘็ฎก่…ซ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0002013 ; + skos:prefLabel "ใƒชใƒณใƒ‘็ฎก่…ซ"@ja . + + + nando:hasNotificationNumber "9" ; + dcterms:description "ใƒชใƒณใƒ‘็ฎก่…ซใฏไธปใซๅฐๅ…๏ผˆๅคšใใฏๅ…ˆๅคฉๆ€ง๏ผ‰ใซ็™บ็”Ÿใ™ใ‚‹ๅคงๅฐใฎใƒชใƒณใƒ‘ๅšข่ƒžใ‚’ไธปไฝ“ใจใ—ใŸ่…ซ็˜คๆ€ง็—…ๅค‰ใงใ‚ใ‚Šใ€็”Ÿ็‰ฉๅญฆ็š„ใซใฏ่‰ฏๆ€งใงใ‚ใ‚‹ใ€‚ๅ…จ่บซใฉใ“ใซใงใ‚‚็™บ็”Ÿใ—ใ†ใ‚‹ใŒใ€็‰นใซ้ ญ้ š้ƒจใ‚„็ธฆ้š”ใ€่…‹็ชฉใซๅฅฝ็™บใ™ใ‚‹ใ€‚ๅคšใใฎ็—‡ไพ‹ใงใฏ็กฌๅŒ–็™‚ๆณ•ใ‚„ๅค–็ง‘็š„ๅˆ‡้™ค็ญ‰ใซใ‚ˆใ‚‹ๆฒป็™‚ใŒๅฏ่ƒฝใงใ‚ใ‚‹ใŒใ€้‡็—‡ไพ‹ใฏใ—ใฐใ—ใฐๆฒป็™‚ๅ›ฐ้›ฃใงใ‚ใ‚Šใ€ๆฐ—้“้–‰ๅกžใชใฉใฎๆฉŸ่ƒฝ็š„ใชๅ•้กŒใ‚„ๆ•ดๅฎน็š„ใชๅ•้กŒใ‚’ๆŠฑใˆใฆใ„ใ‚‹ใ€‚่ก€็ฎก็—…ๅค‰ใ‚’ๅŒๆ™‚ใซๆœ‰ใ™ใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚่ฟ‘ๅนดๅ›ฝ้š›็š„ใซๆ™ฎๅŠใ—ใคใคใ‚ใ‚‹ISSVA๏ผˆInternational Society of Studying Vascular Anomaly, ๅ›ฝ้š›่ก€็ฎกๅฅ‡ๅฝข็ ”็ฉถๅญฆไผš๏ผ‰ๅˆ†้กžใซใŠใ„ใฆใฏ่„ˆ็ฎก็—…ๅค‰ใฎไธ€ใคใจใ—ใฆใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใซๅซใ‚ใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚ใ“ใ‚Œใ‚’ๅ—ใ‘ใฆๆœ€่ฟ‘ใงใฏใƒชใƒณใƒ‘็ฎก่…ซใ‚’ใ€Œใƒชใƒณใƒ‘็ฎกๅฅ‡ๅฝขใ€ใจๅ‘ผใถใ“ใจใŒๅข—ใˆใฆใ„ใ‚‹ใ€‚่‹ฑ่ชžๅใฏlymphangiomaใ€cystic or common lymphatic malformationใ€cystic hygromaใชใฉใ€‚ใƒชใƒณใƒ‘็ฎก่…ซใ‚’็—…ๅค‰ใฎไธ€้ƒจใซๅซใ‚€ใ€ใ‚ˆใ‚Š่ค‡้›‘ใช็—‡ๅ€™็พคใŒใ„ใใคใ‹็Ÿฅใ‚‰ใ‚ŒใฆใŠใ‚Š๏ผˆKlippel-Trenaunay ็—‡ๅ€™็พคใชใฉ๏ผ‰ใ€่จบๆ–ญใƒปๅฎš็พฉใซใคใ„ใฆใฏใพใ ไธ็ขบๅฎšใชใจใ“ใ‚ใŒใ‚ใ‚‹ใ€‚ใ€€ไธ€ๆ–นใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏใƒชใƒณใƒ‘็ฎก่…ซใจๅŒๆง˜ใซๆ‹กๅผตใ—ใŸใƒชใƒณใƒ‘็ฎกใซใ‚ˆใ‚‹ๆตธๆฝคๆ€ง็—…ๅค‰ใ‚’ไธปไฝ“ใจใ™ใ‚‹ใŒใ€ๆบถ้ชจๆ€งๅค‰ๅŒ–ใ‚„ๅคš่‡“ๅ™จใงใฎ็™บ็”Ÿใ€ไนณ็ณœ่ƒธๆฐดใƒป่…นๆฐดใชใฉใฎใƒชใƒณใƒ‘ๆผใชใฉๅคšๅฝฉใช่‡จๅบŠ็—‡็Šถใ‚’็™บ็”Ÿใ™ใ‚‹ใ€‚ๅคšใใŒ้›ฃๆฒปๆ€งใงใ€็พๆ™‚็‚นใงใฏ็ขบๅฎŸใซๆœ‰ๅŠนใชๆฒป็™‚ๆณ•ใฏใชใ„ใ€‚ไผผใŸใ‚ˆใ†ใช็—‡็Šถใฎใ‚ดใƒผใƒใƒ ็—…ใฏ้ชจๆบถ่งฃ็—‡็ŠถใŒใ‚ˆใ‚Š้ก•่‘—ใงใ‚ใ‚‹ใŒใ€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใฎ้‘‘ๅˆฅใฏใฏใฃใใ‚Šใ—ใชใ„ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใฏ่‹ฑ่ชžๅใงใฏlymphangiomatosisใ€generalized lymphatic anomalyใชใฉใจๅ‘ผใฐใ‚Œใ‚‹ใ€‚ใ€€ใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใƒชใƒณใƒ‘็ฎก่…ซใฏ้‘‘ๅˆฅใŒ้›ฃใ—ใใ€็พๆ™‚็‚นใงใฏๆ˜Ž็ขบใซๅˆ†้กžใงใใชใ„ๅ ดๅˆใŒใ‚ใ‚‹ใ€‚ใƒชใƒณใƒ‘็ฎก่…ซๆง˜็—…ๅค‰ใŒ้›ขใ‚ŒใŸไฝ็ฝฎใซ่ค‡ๆ•ฐใ‚ใฃใŸใ‚Šใ€็—…ๅค‰ใŒๆ‹กๅคงใ€ๆตธๆฝคๅ‚พๅ‘ใ‚’่ชใ‚ใ‚‹ๅ ดๅˆใซใฏใƒชใƒณใƒ‘็ฎก่…ซ็—‡ใจใ—ใฆใ„ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201033" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Lymphangiomatosis"@en, "ใ‚Šใ‚“ใฑใ‹ใ‚“ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira, "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015408 ; + skos:prefLabel "ใƒชใƒณใƒ‘็ฎก่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "1" ; + dcterms:description "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡๏ผˆHHT, ใ‚ชใ‚นใƒฉใƒผ็—…๏ผ‰ใฏใ€็šฎ่†šใƒป็ฒ˜่†œใƒปๆถˆๅŒ–็ฎกใฎๆฏ›็ดฐ่ก€็ฎกๆ‹กๅผต็—…ๅค‰ใ‹ใ‚‰ใฎๅๅพฉใ™ใ‚‹ๅ‡บ่ก€ใ€ๅคš่‡“ๅ™จ๏ผˆ่„ณใƒป่„Š้ซ„ใƒป่‚บใƒป่‚่‡“๏ผ‰ใฎๅ‹•้™่„ˆๅฅ‡ๅฝขใ€ๅธธๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง้บไผใชใฉใ‚’็‰นๅพดใจใ™ใ‚‹ๅคš่‡“ๅ™จ็–พๆ‚ฃใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201034" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hereditary hemorrhagic telangiectasia"@en, "ใ„ใงใ‚“ใ›ใ„ใ—ใ‚…ใฃใ‘ใคใ›ใ„ใพใฃใ—ใ‚‡ใ†ใ‘ใฃใ‹ใ‚“ใ‹ใใกใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "HHT"@en, "Hereditary haemorrhagic telangiectasia"@en, "Osler-Weber-Rendu disease"@en, "ใ‚ชใ‚นใƒฉใƒผ็—…"@ja ; + skos:closeMatch obo:MONDO_0019180 ; + skos:prefLabel "้บไผๆ€งๅ‡บ่ก€ๆ€งๆœซๆขข่ก€็ฎกๆ‹กๅผต็—‡"@ja . + + + nando:hasNotificationNumber "2" ; + dcterms:description "1940ๅนดใซๆ”พๅฐ„็ทš็ง‘ๅŒปใฎKasabachใจๅฐๅ…็ง‘ๅŒปใฎMerrittใซใ‚ˆใฃใฆๅ ฑๅ‘Šใ•ใ‚ŒใŸ็—‡ๅ€™็พคใงใ€ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็พ่ฑกใจใ‚‚่จ€ใ‚ใ‚Œใ‚‹ใ€‚ๅฝผใ‚‰ใฏๆฏ›็ดฐ่ก€็ฎกๆ€ง่ก€็ฎก่…ซใจใ„ใ†็—…ๅใงๅ ฑๅ‘Šใ—ใŸใŒใ€ๅฎŸ้š›ใฏๆฏ›็ดฐ่ก€็ฎกๆ€ง่ก€็ฎก่…ซใงใฏใชใใ€ใ‚ซใƒใ‚ธๅž‹่ก€็ฎกๅ†…็šฎ่…ซใ€€kaposiform hemangioendothelioma๏ผˆKHE๏ผ‰ใพใŸใฏๆˆฟ็Šถ่ก€็ฎก่…ซtufted angioma (TA)ใงใ‚ใฃใŸใ€‚ใ“ใ‚Œใ‚‰ใฏๅŒใ˜็—…ๅค‰ใจใ™ใ‚‹ๆ„่ฆ‹ใ‚‚ใ‚ใ‚‹ใ€‚ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พคใฏใ€ๅฐๅ…ๆœŸใ€็‰นใซๆ–ฐ็”Ÿๅ…ๆœŸใ‹ใ‚‰ไนณๅ…ๆœŸใฎใ‚ซใƒใ‚ธๅž‹่ก€็ฎกๅ†…็šฎ่…ซใพใŸใฏๆˆฟ็Šถ่ก€็ฎก่…ซใซๅˆไฝตใ—ใฆ่ตทใ“ใ‚‹่ก€ๅฐๆฟๆธ›ๅฐ‘ใ€่ฒง่ก€ใ€ๅ‡ๅ›บ็•ฐๅธธใ‚’ๅ‘ˆใ™ใ‚‹็–พๆ‚ฃใงใ€็‰นใซ่ก€ๅฐๆฟๆธ›ๅฐ‘ใŒ็‰นๅพดใงใ‚ใ‚Šใ€ๅ‡บ่ก€ใ‚„ๅคš่‡“ๅ™จไธๅ…จใชใฉ่‡ดๅ‘ฝ็š„ใซใชใ‚‹ใ“ใจใ‚‚ใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201035" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Kasabach-Merritt syndrome"@en, "ใ‹ใ•ใฐใฃใฏใƒปใ‚ใ‚Šใฃใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค "@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Kasabach-Merritt็—‡ๅ€™็พค "@ja ; + skos:closeMatch obo:MONDO_0007708 ; + skos:prefLabel "ใ‚ซใ‚ตใƒใƒƒใƒใƒปใƒกใƒชใƒƒใƒˆ็—‡ๅ€™็พค "@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2201036" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Unilateral retinoblastoma (right)"@en, "ใธใ‚“ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…๏ผˆใฟใŽ๏ผ‰"@ja-Hira, "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅณ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅณ๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2201037" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Unilateral retinoblastoma (left)"@en, "ใธใ‚“ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…๏ผˆใฒใ ใ‚Š๏ผ‰"@ja-Hira, "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅทฆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็‰‡ๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ๏ผˆๅทฆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2201038" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bilateral retinoblastoma"@en, "ใ‚Šใ‚‡ใ†ใใใ›ใ„ใ‚‚ใ†ใพใใŒใ•ใ„ใผใ†ใ—ใ‚…"@ja-Hira, "ไธกๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0003075 ; + skos:prefLabel "ไธกๅดๆ€ง็ถฒ่†œ่Šฝ็ดฐ่ƒž่…ซ"@ja . + + + nando:hasNotificationNumber "6" ; + dcterms:description "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201039" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bronchial stenosis"@en, "ใใ‹ใ‚“ใ—ใใ‚‡ใ†ใ•ใใ—ใ‚‡ใ†"@ja-Hira, "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡"@ja . + + + nando:hasNotificationNumber "6" ; + dcterms:description "ๆฐ—็ฎกๆ”ฏ็‹ญ็ช„็—‡ใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ›บๅฎšๆ€ง๏ผˆๅ‘ผๅธๆ€งใฎๅค‰ๅ‹•ใ‚’ๆฆ‚ใญ่ชใ‚ใชใ„๏ผ‰ใฎ็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡ใจใฏใ€ไฝ“ๆ ผใ‚„ๆฐ—็ฎกๅ†…่…”ๅพ„ใ‹ใ‚‰ๆŽจๆธฌใ•ใ‚Œใ‚‹ๆฐ—็ฎกๆ”ฏๅ†…่…”ๅพ„ใจๆฏ”่ผƒใ—ใฆใ€ๅ‘ผๅธๆ€งใซๅคงใใๅค‰ๅ‹•ใ™ใ‚‹๏ผˆๅธๆฐ—ๆ™‚ใซใฏใ‚ใ‚‹็จ‹ๅบฆๅ†…่…”ใŒไฟใŸใ‚Œใ‚‹ใŒใ€ๅ‘ผๆฐ—ๆ™‚ใซใฏ้ซ˜ๅบฆใฎ็‹ญ็ช„ใ‚„้–‰ๅกžใ‚’ใใŸใ™๏ผ‰็‹ญ็ช„ใ‚’ๆฐ—็ฎกๆ”ฏใซ่ชใ‚ใ€ใ‹ใคใใ‚Œใซใจใ‚‚ใชใ†็—‡็Šถใ‚’ๅ‘ˆใ™ใ‚‹ใ‚‚ใฎใงใ‚ใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201040" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bronchomalacia"@en, "ใใ‹ใ‚“ใ—ใชใ‚“ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008888 ; + skos:prefLabel "ๆฐ—็ฎกๆ”ฏ่ปŸๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "88" ; + dcterms:identifier "NANDO:2201041" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypertrophic nonobstructive cardiomyopathy"@en, "ใฒใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "้ž้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . + + + nando:hasNotificationNumber "88" ; + dcterms:identifier "NANDO:2201042" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypertrophic obstructive cardiomyopathy"@en, "ใธใ„ใใใ›ใ„ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0005045 ; + skos:prefLabel "้–‰ๅกžๆ€ง่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . + + + nando:hasNotificationNumber "88" ; + dcterms:identifier "NANDO:2201043" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dilated phase of hypertrophic cardiomyopathy"@en, "ใ‹ใใกใ‚‡ใ†ใใ†ใฒใ ใ„ใŒใŸใ—ใ‚“ใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ‹กๅผต็›ธ่‚ฅๅคงๅž‹ๅฟƒ็ญ‹็—‡"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201044" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Coronary aneurysms complicated with Kawasaki disease (typical Kawasaki disease)"@en, "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†๏ผˆใฆใ„ใ‘ใ„ใ‚Œใ„ใ‹ใ‚ใ•ใใณใ‚‡ใ†๏ผ‰"@ja-Hira, "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆๅฎšๅž‹ไพ‹ๅทๅดŽ็—…๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆๅฎšๅž‹ไพ‹ๅทๅดŽ็—…๏ผ‰"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201045" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Coronary aneurysms complicated with Kawasaki disease (abortive Kawasaki disease)"@en, "ใ‹ใ‚ใ•ใใณใ‚‡ใ†ใ›ใ„ใ‹ใ‚“ใฉใ†ใฟใ‚ƒใใ‚Šใ‚…ใ†๏ผˆใตใœใ‚“ใŒใŸใ‹ใ‚ใ•ใใณใ‚‡ใ†๏ผ‰"@ja-Hira, "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆไธๅ…จๅž‹ๅทๅดŽ็—…๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅทๅดŽ็—…ๆ€งๅ† ๅ‹•่„ˆ็˜ค๏ผˆไธๅ…จๅž‹ๅทๅดŽ็—…๏ผ‰"@ja . + + + nando:hasNotificationNumber "83" ; + dcterms:identifier "NANDO:2201046" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic pulmonary arterial hypertension"@en, "ใจใใฏใคใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "IPAH"@en ; + skos:closeMatch obo:MONDO_0017147 ; + skos:prefLabel "็‰น็™บๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja . + + + nando:hasNotificationNumber "83" ; + dcterms:identifier "NANDO:2201047" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial pulmonary arterial hypertension"@en, "ใ‹ใžใใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "hereditary pulmonary arterial hypertension"@en ; + skos:closeMatch obo:MONDO_0017148 ; + skos:prefLabel "ๅฎถๆ—ๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja . + + + nando:hasNotificationNumber "83" ; + dcterms:identifier "NANDO:2201048" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Secondary pulmonary arterial hypertension"@en, "ใซใ˜ใ›ใ„ใฏใ„ใฉใ†ใฟใ‚ƒใใ›ใ„ใฏใ„ใ“ใ†ใ‘ใคใ‚ใคใ—ใ‚‡ใ†"@ja-Hira, "ไบŒๆฌกๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017150 ; + skos:prefLabel "ไบŒๆฌกๆ€ง่‚บๅ‹•่„ˆๆ€ง่‚บ้ซ˜่ก€ๅœง็—‡"@ja . + + + nando:hasNotificationNumber "75" ; + dcterms:identifier "NANDO:2201049" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic central diabetes insipidus"@en, "ใจใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "็‰น็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็‰น็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja . + + + nando:hasNotificationNumber "75" ; + dcterms:identifier "NANDO:2201050" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Familial central diabetes insipidus"@en, "ใ‹ใžใใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅฎถๆ—ๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007450 ; + skos:prefLabel "ๅฎถๆ—ๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja . + + + nando:hasNotificationNumber "75" ; + dcterms:identifier "NANDO:2201051" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Secondary central diabetes insipidus"@en, "ใžใใฏใคใ›ใ„ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใซใ‚‡ใ†ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ถš็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็ถš็™บๆ€งไธญๆžขๆ€งๅฐฟๅดฉ็—‡"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201052" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MEN2A"@ja, "Multiple endocrine neoplasia type 2A"@en, "ใˆใ‚€ใ„ใƒผใˆใฌ2ใˆใƒผ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MEN 2A"@en, "MEN type 2A"@en, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2Aๅž‹"@ja ; + skos:closeMatch obo:MONDO_0008234 ; + skos:prefLabel "MEN2A"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201053" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MEN2B"@ja, "Multiple endocrine neoplasia type 2B"@en, "ใˆใ‚€ใ„ใƒผใˆใฌ2ใณใƒผ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MEN 2B"@en, "MEN type 2B"@en, "ๅคš็™บๆ€งๅ†…ๅˆ†ๆณŒ่…ซ็˜2Bๅž‹"@ja ; + skos:closeMatch obo:MONDO_0008082 ; + skos:prefLabel "MEN2B"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201054" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Medullary thyroid carcinoma"@en, "ใ‹ใžใใ›ใ„ใ“ใ†ใ˜ใ‚‡ใ†ใ›ใ‚“ใšใ„ใ‚ˆใ†ใŒใ‚“"@ja-Hira, "ๅฎถๆ—ๆ€ง็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œ"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "FMTC"@en, "FMTC"@ja ; + skos:closeMatch obo:MONDO_0015277 ; + skos:prefLabel "ๅฎถๆ—ๆ€ง็”ฒ็Šถ่…บ้ซ„ๆง˜็™Œ"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201055" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Systemic juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใœใ‚“ใ—ใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅ…จ่บซๅž‹๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "sJIA"@en, "ๅ…จ่บซๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0019434 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅ…จ่บซๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201056" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Oligoarticular juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ—ใ‚‡ใ†ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅฐ‘้–ข็ฏ€็‚Ž๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "oligoarthritis"@en, "ๅฐ‘้–ข็ฏ€ๅž‹่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž"@ja ; + skos:closeMatch obo:MONDO_0019433 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅฐ‘้–ข็ฏ€็‚Ž๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201057" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Rheumatoid factor-negative juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‚Šใ†ใพใจใ„ใฉใ„ใ‚“ใ—ใ„ใ‚“ใ›ใ„ใŸใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฐๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0043152 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฐๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201058" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Rheumatoid factor-positive juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‚Šใ†ใพใจใ„ใฉใ„ใ‚“ใ—ใ‚ˆใ†ใ›ใ„ใŸใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฝๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019435 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆใƒชใ‚ฆใƒžใƒˆใ‚คใƒ‰ๅ› ๅญ้™ฝๆ€งๅคš้–ข็ฏ€็‚Ž๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201059" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Psoriatic juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใ‹ใ‚“ใ›ใ‚“ใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "้–ข็ฏ€็—‡ๆ€งไนพ็™ฌ"@ja ; + skos:closeMatch obo:MONDO_0011849 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไนพ็™ฌๆ€ง้–ข็ฏ€็‚Ž๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201060" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Enthesitis-related juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใตใกใ‚ƒใใถใˆใ‚“ใ‹ใ‚“ใ‚Œใ‚“ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไป˜็€้ƒจ็‚Ž้–ข้€ฃ้–ข็ฏ€็‚Ž๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019437 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆไป˜็€้ƒจ็‚Ž้–ข้€ฃ้–ข็ฏ€็‚Ž๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201061" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Unclassifiable Juvenile idiopathic arthritis"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใจใใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผˆใถใ‚“ใ‚‹ใ„ใตใฎใ†ใ‹ใ‚“ใ›ใคใˆใ‚“๏ผ‰"@ja-Hira, "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅˆ†้กžไธ่ƒฝ้–ข็ฏ€็‚Ž๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019607 ; + skos:prefLabel "่‹ฅๅนดๆ€ง็‰น็™บๆ€ง้–ข็ฏ€็‚Ž๏ผˆๅˆ†้กžไธ่ƒฝ้–ข็ฏ€็‚Ž๏ผ‰"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201062" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Takayasu arteritis with occlusion of aortic arch"@en, "ใใ‚…ใ†ใถใ‚“ใใธใ„ใใใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "ๅผ“ๅˆ†ๅฒ้–‰ๅกžๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๅผ“ๅˆ†ๅฒ้–‰ๅกžๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201063" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical coarctation type Takayasu arteritis"@en, "ใ„ใ‘ใ„ใ ใ„ใฉใ†ใฟใ‚ƒใใใ‚‡ใ†ใ•ใใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "็•ฐๅž‹ๅคงๅ‹•่„ˆ็ธฎ็ช„ๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "็•ฐๅž‹ๅคงๅ‹•่„ˆ็ธฎ็ช„ๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201064" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mixed-type Takayasu arteritis"@en, "ใ“ใ‚“ใ”ใ†ใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "ๆททๅˆๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆททๅˆๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201065" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dilated type Takayasu arteritis"@en, "ใ‹ใใกใ‚‡ใ†ใŒใŸใŸใ‹ใ‚„ใ™ใฉใ†ใฟใ‚ƒใใˆใ‚“"@ja-Hira, "ๆ‹กๅผตๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž๏ผˆๅ‹•่„ˆ็˜คๅž‹๏ผ‰"@ja ; + skos:prefLabel "ๆ‹กๅผตๅž‹้ซ˜ๅฎ‰ๅ‹•่„ˆ็‚Ž"@ja . + + + nando:hasNotificationNumber "16" ; + dcterms:identifier "NANDO:2201066" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic infantileย neurological cutaneous articular syndrome"@en, "ใพใ‚“ใ›ใ„ใซใ‚…ใ†ใ˜ใ—ใ‚“ใ‘ใ„ใฒใตใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CINCA syndrome"@en, "CINCA็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0011776 ; + skos:prefLabel "ๆ…ขๆ€งไนณๅ…็ฅž็ตŒ็šฎ่†š้–ข็ฏ€็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "16" ; + dcterms:identifier "NANDO:2201067" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Muckle-Wells syndrome"@en, "ใพใฃใใ‚‹ใƒปใ†ใ‡ใ‚‹ใšใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Muckle-Wells็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0008633 ; + skos:prefLabel "ใƒžใƒƒใ‚ฏใƒซใƒปใ‚ฆใ‚งใƒซใ‚บ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "16" ; + dcterms:identifier "NANDO:2201068" ; + dcterms:source ; + a owl:Class ; + rdfs:label "familial cold autoinflammatory syndrome"@en, "ใ‹ใžใใ›ใ„ใ‹ใ‚“ใ‚Œใ„ใ˜ใ“ใˆใ‚“ใ—ใ‚‡ใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FCAS"@en, "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่•้บป็–น"@ja ; + skos:closeMatch obo:MONDO_0018768 ; + skos:prefLabel "ๅฎถๆ—ๆ€งๅฏ’ๅ†ท่‡ชๅทฑ็‚Ž็—‡็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201069" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MODY1"@ja, "Maturity-onset diabetes of the young type 1"@en, "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„1"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HNF4A-MODY"@en, "MODY1"@en, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…1ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0007452 ; + skos:prefLabel "MODY1"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201070" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MODY2"@ja, "Maturity-onset diabetes of the young type 2"@en, "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„2"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GCK-MODY"@en, "MODY2"@en, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…2ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0007453 ; + skos:prefLabel "MODY2"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201071" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MODY3"@ja, "Maturity-onset diabetes of the young type 3"@en, "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„3"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HNF1A-MODY"@en, "MODY3"@en, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…3ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0010894 ; + skos:prefLabel "MODY3"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201072" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MODY4"@ja, "Maturity-onset diabetes of the young type 4"@en, "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„4"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MODY4"@en, "PDX1-MODY"@en, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…4ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0011667 ; + skos:prefLabel "MODY4"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201073" ; + dcterms:source ; + a owl:Class ; + rdfs:label "MODY5"@ja, "Maturity-onset diabetes of the young type 5"@en, "ใˆใ‚€ใŠใƒผใงใƒใƒผใ‚ใ„5"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HNF1B-MODY"@en, "MODY5"@en, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…5ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0007669 ; + skos:prefLabel "MODY5"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201074" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Other maturity-onset diabetes of the young"@en, "ใ˜ใ‚ƒใใญใ‚“ใฏใฃใ—ใ‚‡ใ†ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใซใ‚‡ใ†ใณใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰"@ja-Hira, "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆใใฎไป–๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "่‹ฅๅนด็™บ็—‡ๆˆไบบๅž‹็ณ–ๅฐฟ็—…๏ผˆใใฎไป–๏ผ‰"@ja . + + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:2201075" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Phenylalanine hydroxylase deficiency"@en, "ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ™ใ„ใ•ใ‚“ใ‹ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PAH deficiency"@en, "PAHๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009861 ; + skos:prefLabel "ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณๆฐด้…ธๅŒ–้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:2201076" ; + dcterms:source ; + a owl:Class ; + rdfs:label "BH4ๆฌ ๆ็—‡"@ja, "Tetrahydrobiopterin deficiency"@en, "ใณใƒผใˆใ„ใก4ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ใƒ“ใ‚ชใƒ—ใƒ†ใƒชใƒณไปฃ่ฌ็•ฐๅธธ็—‡"@ja ; + skos:closeMatch obo:MONDO_0016543 ; + skos:prefLabel "BH4ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "17" ; + dcterms:identifier "NANDO:2201077" ; + dcterms:source ; + a owl:Class ; + rdfs:label "BH4-responsive hyperphenylalaninemia"@en, "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡"@ja, "ใณใƒผใˆใ„ใก4ใฏใ‚“ใฎใ†ใ›ใ„ใ“ใ†ใตใ‡ใซใ‚‹ใ‚ใ‚‰ใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "BH4-responsive hyperphenylalaninaemia"@en, "Tetrahydrobiopterin-responsive hyperphenylalaninemia"@en ; + skos:closeMatch obo:MONDO_0017389 ; + skos:prefLabel "BH4ๅๅฟœๆ€ง้ซ˜ใƒ•ใ‚งใƒ‹ใƒซใ‚ขใƒฉใƒ‹ใƒณ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201078" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Classic form maple syrup urine disease"@en, "ใ“ใฆใ‚“ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅคๅ…ธๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "classic MSUD"@en ; + skos:closeMatch obo:MONDO_0017051 ; + skos:prefLabel "ๅคๅ…ธๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201079" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intermediate maple syrup urine disease"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017052 ; + skos:prefLabel "ไธญ้–“ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201080" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intermittent maple syrup urine disease"@en, "ใ‹ใ‚“ใ‘ใคใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้–“ๆฌ ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017053 ; + skos:prefLabel "้–“ๆฌ ๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201081" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Thiamine-responsive maple syrup urine disease"@en, "ใกใ‚ใฟใ‚“ใฏใ‚“ใฎใ†ใŒใŸใ‚ใƒผใทใ‚‹ใ—ใ‚ใฃใทใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒใ‚ขใƒŸใƒณๅๅฟœๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017054 ; + skos:prefLabel "ใƒใ‚ขใƒŸใƒณๅๅฟœๅž‹ใƒกใƒผใƒ—ใƒซใ‚ทใƒญใƒƒใƒ—ๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:2201082" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic progressive homocystinuria"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "19" ; + dcterms:identifier "NANDO:2201083" ; + dcterms:source ; + a owl:Class ; + rdfs:label "vitamin B6-responsive homocystinuria"@en, "ใณใŸใฟใ‚“ใณใƒผ6ใฏใ‚“ใฎใ†ใŒใŸใปใ‚‚ใ—ใ™ใกใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ“ใ‚ฟใƒŸใƒณB6ๅๅฟœๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ“ใ‚ฟใƒŸใƒณB6ๅๅฟœๅž‹ใƒ›ใƒขใ‚ทใ‚นใƒใƒณๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:2201084" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic N-acetylglutamate synthetase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "NAGS deficiency"@en, "NAGSD"@en ; + skos:closeMatch obo:MONDO_0009377 ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:2201085" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset N-acetylglutamate synthetase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "3" ; + dcterms:identifier "NANDO:2201086" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset N-acetylglutamate synthetase deficiency"@en, "ใกใฏใคใŒใŸใˆใฌใ‚ใ›ใกใ‚‹ใใ‚‹ใŸใฟใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "late-onset NAGSD"@en ; + skos:prefLabel "้…็™บๅž‹N-ใ‚ขใ‚ปใƒใƒซใ‚ฐใƒซใ‚ฟใƒŸใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201087" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic carbamoylphosphate synthetase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201088" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset carbamoyl phosphate synthetase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201089" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset carbamoylphosphate synthetase deficiency"@en, "ใกใฏใคใŒใŸใ‹ใ‚‹ใฐใฟใ‚‹ใ‚Šใ‚“ใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "้…็™บๅž‹ใ‚ซใƒซใƒใƒŸใƒซใƒชใƒณ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201090" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic ornitine transcarbamylase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201091" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset ornitine transcarbamylase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201092" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset ornitine transcarbamylase deficiency"@en, "ใกใฏใคใŒใŸใŠใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‹ใ‚‹ใฐใฟใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "้…็™บๅž‹ใ‚ชใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใ‚ซใƒซใƒใƒŸใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "1" ; + dcterms:identifier "NANDO:2201093" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic argininosuccinate synthetase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "1" ; + dcterms:identifier "NANDO:2201094" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset argininosuccinate synthetase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "neonatal-onset ASD"@en ; + skos:closeMatch obo:MONDO_0016600 ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "1" ; + dcterms:identifier "NANDO:2201095" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset argininosuccinate synthetase deficiency"@en, "ใกใฏใคใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใ”ใ†ใ›ใ„ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016601 ; + skos:prefLabel "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅˆๆˆ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "1" ; + dcterms:identifier "NANDO:2201096" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic argininosuccinic aciduria"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "1" ; + dcterms:identifier "NANDO:2201097" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset argininosuccinic aciduria"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "1" ; + dcterms:identifier "NANDO:2201098" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset argininosuccinic aciduria"@en, "ใกใฏใคใŒใŸใ‚ใ‚‹ใŽใซใฎใ“ใฏใใ•ใ‚“ใซใ‚‡ใ†ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "late-onset ASA"@en ; + skos:prefLabel "้…็™บๅž‹ใ‚ขใƒซใ‚ฎใƒ‹ใƒŽใ‚ณใƒใ‚ฏ้…ธๅฐฟ็—‡"@ja . + + + nando:hasNotificationNumber "6" ; + dcterms:identifier "NANDO:2201099" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic hyperargininemia"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Presymptomatic hyperargininaemia"@en ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "6" ; + dcterms:identifier "NANDO:2201100" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset hyperargininemia"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Neonatal-onset hyperargininaemia"@en ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "6" ; + dcterms:identifier "NANDO:2201101" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset hyperarginemia"@en, "ใกใฏใคใŒใŸใ“ใ†ใ‚ใ‚‹ใŽใซใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Late-onset hyperarginaemia"@en ; + skos:prefLabel "้…็™บๅž‹้ซ˜ใ‚ขใƒซใ‚ฎใƒ‹ใƒณ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201102" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic methylmalonic acidemia"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Presymptomatic methylmalonic acidaemia"@en ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201103" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute-onset methylmalonic acidemia"@en, "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Acute-onset methylmalonic acidaemia"@en ; + skos:prefLabel "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201104" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia, chronic progressive form"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ‚ใกใ‚‹ใพใ‚ใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia, chronic progressive form"@en ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒกใƒใƒซใƒžใƒญใƒณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201105" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia cblA type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia cblA type"@en ; + skos:closeMatch obo:MONDO_0009613 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblA"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201106" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia cblB type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใณใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia cblB type"@en ; + skos:closeMatch obo:MONDO_0009614 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblB"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201107" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic aciduria and homocystinuria, cblC type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ—ใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblC"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010184 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblC"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201108" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia CblD type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใงใƒใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia CblD type"@en ; + skos:closeMatch obo:MONDO_0010185 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblD"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201109" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylcobalamin deficiency cblE type "@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ„ใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblE"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009354 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblE"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201110" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylmalonic acidemia and homocystinuria cblF type"@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใˆใต"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblF"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Methylmalonic acidaemia and homocystinuria cblF type"@en ; + skos:closeMatch obo:MONDO_0010183 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblF"@ja . + + + nando:hasNotificationNumber "109" ; + dcterms:identifier "NANDO:2201111" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Methylcobalamin deficiency cblG type "@en, "ใ“ใฐใ‚‰ใฟใ‚“ใŸใ„ใ—ใ‚ƒใ„ใ˜ใ‚‡ใ† ใ—ใƒผใณใƒผใˆใ‚‹ใ˜ใƒผ"@ja-Hira, "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblG"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009609, obo:MONDO_0021915 ; + skos:prefLabel "ใ‚ณใƒใƒฉใƒŸใƒณไปฃ่ฌ็•ฐๅธธ cblG"@ja . + + + nando:hasNotificationNumber "106" ; + dcterms:identifier "NANDO:2201112" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic propionic acidemia"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Presymptomatic propionic acidaemia"@en ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "106" ; + dcterms:identifier "NANDO:2201113" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute-onset propionic acidemia"@en, "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acute-onset propionic acidaemia"@en ; + skos:prefLabel "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "106" ; + dcterms:identifier "NANDO:2201114" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Propionic acidemia, chronic progressive form"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Propionic acidaemia, chronic progressive form"@en ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "106" ; + dcterms:identifier "NANDO:2201115" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Propionic acidemia, intermittent late onset form"@en, "ใ•ใ„ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใทใ‚ใดใŠใ‚“ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆœ€่ปฝ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Propionic acidaemia, intermittent late onset form"@en ; + skos:prefLabel "ๆœ€่ปฝ็—‡ๅž‹ใƒ—ใƒญใƒ”ใ‚ชใƒณ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "95" ; + dcterms:identifier "NANDO:2201116" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic isovaleric acidemia"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Presymptomatic isovaleric acidaemia"@en ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "95" ; + dcterms:identifier "NANDO:2201117" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute-onset isovaleric acidemia"@en, "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acute-onset isovaleric acidaemia"@en ; + skos:prefLabel "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "95" ; + dcterms:identifier "NANDO:2201118" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Isovaleric acidemia, chronic progressive form"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใ„ใใใฃใใ†ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Isovaleric acidaemia, chronic progressive form"@en ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚คใ‚ฝๅ‰่‰้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "102" ; + dcterms:identifier "NANDO:2201119" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic 3-hydroxy-3-methylglutaric acidemia"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸ3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HMG-CoA lyase deficiency"@en, "Presymptomatic 3-hydroxy-3-methylglutaric acidaemia"@en ; + skos:closeMatch obo:MONDO_0009520 ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "102" ; + dcterms:identifier "NANDO:2201120" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute-onset 3-hydroxy-3-methylglutaric acidemia"@en, "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸ3ใฒใฉใ‚ใใ—3ใ‚ใกใ‚‹ใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง็™บ็—‡ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Acute-onset 3-hydroxy-3-methylglutaric acidaemia"@en ; + skos:prefLabel "ๆ€ฅๆ€ง็™บ็—‡ๅž‹3-ใƒ’ใƒ‰ใƒญใ‚ญใ‚ท-3-ใƒกใƒใƒซใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡"@ja . + + + nando:hasNotificationNumber "105" ; + dcterms:identifier "NANDO:2201121" ; + dcterms:source ; + a owl:Class ; + rdfs:label "presymptomatic multiple carboxylase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "105" ; + dcterms:identifier "NANDO:2201122" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute-onset multiple carboxylase deficiency"@en, "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง็™บ็—‡ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ€ฅๆ€ง็™บ็—‡ๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "105" ; + dcterms:identifier "NANDO:2201123" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chronic progressive multiple carboxylase deficiency"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใตใใ”ใ†ใ‹ใ‚‹ใผใใ—ใ‚‰ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๅž‹่ค‡ๅˆใ‚ซใƒซใƒœใ‚ญใ‚ทใƒฉใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "97" ; + dcterms:identifier "NANDO:2201124" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic glutaric acidemia type 1"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Presymptomatic glutaric acidaemia type 1"@en ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "97" ; + dcterms:identifier "NANDO:2201125" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute-onset glutaric acidemia type 1"@en, "ใใ‚…ใ†ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Acute-onset glutaric acidaemia type 1"@en ; + skos:prefLabel "ๆ€ฅๆ€ง็™บ็—‡ๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "97" ; + dcterms:identifier "NANDO:2201126" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glutaric acidemia type 1, chronic progressive form"@en, "ใพใ‚“ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใใ‚‹ใŸใ‚‹ใ•ใ‚“ใ‘ใฃใ—ใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Glutaric acidaemia type 1, chronic progressive form"@en ; + skos:prefLabel "ๆ…ขๆ€ง้€ฒ่กŒๅž‹ใ‚ฐใƒซใ‚ฟใƒซ้…ธ่ก€็—‡๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "41" ; + dcterms:identifier "NANDO:2201127" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic carnitine palmitoyltransferase I deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "41" ; + dcterms:identifier "NANDO:2201128" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset carnitine palmitoyltransferase I deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "41" ; + dcterms:identifier "NANDO:2201129" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile-onset carnitine palmitoyl transferase I deficiency"@en, "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "41" ; + dcterms:identifier "NANDO:2201130" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset carnitine palmitoyltransferase I deficiency"@en, "ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ1ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "42" ; + dcterms:identifier "NANDO:2201131" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic carnitine palmitoyltransferase II deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "42" ; + dcterms:identifier "NANDO:2201132" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset carnitine palmitoyltransferase II deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012136 ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "42" ; + dcterms:identifier "NANDO:2201133" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile-onset carnitine palmitoyl transferase II deficiency"@en, "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CPT II deficiency"@en ; + skos:closeMatch obo:MONDO_0015515 ; + skos:prefLabel "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "42" ; + dcterms:identifier "NANDO:2201134" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset carnitine palmitoyltransferase II deficiency"@en, "ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใฑใ‚‹ใฟใจใ„ใ‚‹ใจใ‚‰ใ‚“ใ™ใตใ‡ใ‚‰ใƒผใœ2ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0015515 ; + skos:prefLabel "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใƒ‘ใƒซใƒŸใƒˆใ‚คใƒซใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผIIๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2201135" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic carnitine-acylcarnitine translocase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2201136" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset carnitine-acylcarnitine translocase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "neonatal-onset CACT deficiency"@en ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2201137" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile-onset carnitine-acylcarnitine translocase deficiency"@en, "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "40" ; + dcterms:identifier "NANDO:2201138" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset carnitine-acylcarnitine translocase deficiency"@en, "ใกใฏใคใŒใŸใ‹ใ‚‹ใซใกใ‚“ใ‚ใ—ใ‚‹ใ‹ใ‚‹ใซใกใ‚“ใจใ‚‰ใ‚“ใ™ใ‚ใ‹ใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "้…็™บๅž‹ใ‚ซใƒซใƒ‹ใƒใƒณใ‚ขใ‚ทใƒซใ‚ซใƒซใƒ‹ใƒใƒณใƒˆใƒฉใƒณใ‚นใƒญใ‚ซใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "43" ; + dcterms:identifier "NANDO:2201139" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "presymptomatic VLCAD deficiency"@en ; + skos:closeMatch obo:MONDO_0008723 ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "43" ; + dcterms:identifier "NANDO:2201140" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset very-long-chain acyl-CoA dehydrogenase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "43" ; + dcterms:identifier "NANDO:2201141" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infant-onset very-long-chain acyl-CoA dehydrogenase deficiency"@en, "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "43" ; + dcterms:identifier "NANDO:2201142" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset very-long-chain acyl-CoA dehydrogenase deficiency"@en, "ใกใฏใคใŒใŸใ”ใใกใ‚‡ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "้…็™บๅž‹ๆฅต้•ท้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:2201143" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic medium-chain acyl-CoA dehydrogenase deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:2201144" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal-onset medium-chain acyl-CoA dehydrogenase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:2201145" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infant-onset medium-chain acyl-CoA dehydrogenase deficiency"@en, "ใซใ‚…ใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไนณๅ…ๆœŸ็™บ็—‡ๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "48" ; + dcterms:identifier "NANDO:2201146" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-onset medium-chain acyl-CoA dehydrogenase deficiency"@en, "ใกใฏใคใŒใŸใกใ‚…ใ†ใ•ใ‚ใ—ใ‚‹ใ“ใˆใƒผใ ใฃใ™ใ„ใใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "้…็™บๅž‹ไธญ้Ž–ใ‚ขใ‚ทใƒซCoA่„ฑๆฐด็ด ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2201147" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Presymptomatic trifunctional protein deficiency"@en, "ใฏใฃใ—ใ‚‡ใ†ใพใˆใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็™บ็—‡ๅ‰ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel " TFP deficiency"@en ; + skos:closeMatch obo:MONDO_0012172 ; + skos:prefLabel "็™บ็—‡ๅ‰ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2201148" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Trifunctional protein deficiency, lethal type"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2201149" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Trifunctional protein deficiency, intermediate type"@en, "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใใฏใฃใ—ใ‚‡ใ†ใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Reyeๆง˜็—‡ๅ€™็พค"@ja ; + skos:prefLabel "ไนณๅนผๅ…ๆœŸ็™บ็—‡ๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "44" ; + dcterms:identifier "NANDO:2201150" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Trifunctional protein deficiency, myopathic type"@en, "ใกใฏใคใŒใŸใ•ใ‚“ใจใ†ใ“ใ†ใใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Trifunctional protein deficiency, late adult-onset"@en ; + skos:prefLabel "้…็™บๅž‹ไธ‰้ ญ้…ต็ด ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "61" ; + dcterms:identifier "NANDO:2201151" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 0a"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใˆใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…0aๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD type 0a"@en ; + skos:closeMatch obo:MONDO_0009414 ; + skos:prefLabel "็ณ–ๅŽŸ็—…0aๅž‹"@ja . + + + nando:hasNotificationNumber "61" ; + dcterms:identifier "NANDO:2201152" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 0b"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†0ใณใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…0bๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD type 0b"@en ; + skos:closeMatch obo:MONDO_0012693 ; + skos:prefLabel "็ณ–ๅŽŸ็—…0bๅž‹"@ja . + + + nando:hasNotificationNumber "63" ; + dcterms:identifier "NANDO:2201153" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 1a"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใˆใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…Iaๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD Ia"@en ; + skos:closeMatch obo:MONDO_0009287 ; + skos:prefLabel "็ณ–ๅŽŸ็—…Iaๅž‹"@ja . + + + nando:hasNotificationNumber "63" ; + dcterms:identifier "NANDO:2201154" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 1b"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†1ใณใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…Ibๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD Ib"@en ; + skos:closeMatch obo:MONDO_0009288 ; + skos:prefLabel "็ณ–ๅŽŸ็—…Ibๅž‹"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:2201155" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 3a"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใˆใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IIIaๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IIIa"@en, "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆ่‚็ญ‹ๅž‹๏ผ‰"@ja ; + skos:prefLabel "็ณ–ๅŽŸ็—…IIIaๅž‹"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:2201156" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 3b"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใณใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IIIbๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IIIb"@en, "็ณ–ๅŽŸ็—…IIIๅž‹๏ผˆ่‚ๅž‹๏ผ‰"@ja ; + skos:prefLabel "็ณ–ๅŽŸ็—…IIIbๅž‹"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:2201157" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 3c"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IIIdๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IIId"@en, "isolated transferase deficiency"@en, "ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡"@ja, "็ณ–ๅŽŸ็—…๏ผˆ่‚็ญ‹ๅž‹ใ€ฮฑ๏ผ1,4๏ผใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡๏ผ‰"@ja ; + skos:prefLabel "็ณ–ๅŽŸ็—…IIIdๅž‹"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:2201158" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type 3d"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†3ใงใƒใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IIIdๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IIId"@en, "ฮฑ -1,4-ใ‚ฐใƒซใ‚ซใƒณใƒˆใƒฉใƒณใ‚นใƒ•ใ‚งใƒฉใƒผใ‚ผๅ˜็‹ฌๆฌ ๆ็—‡"@ja ; + skos:prefLabel "็ณ–ๅŽŸ็—…IIIdๅž‹"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201159" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IV, hepatic form"@en, "ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hepatic type of GSD IV"@en, "้‡็—‡่‚็กฌๅค‰ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + skos:closeMatch obo:MONDO_0017695 ; + skos:prefLabel "่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201160" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IV, non-progressive hepatic form"@en, "ใฒใ—ใ‚“ใ“ใ†ใ›ใ„ใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "้ž้€ฒ่กŒๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "non-progressive hepatic type of GSD IV"@en ; + skos:closeMatch obo:MONDO_0017696 ; + skos:prefLabel "้ž้€ฒ่กŒๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201161" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IV, fatal neuromuscular form"@en, "ใกใ—ใ›ใ„ใ—ใ‚“ใ‘ใ„ใƒปใใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "่‡ดๆญปๆ€ง็ฅž็ตŒใƒป็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "fatal perinatal neuromuscular type of GSD IV"@en ; + skos:closeMatch obo:MONDO_0017697 ; + skos:prefLabel "่‡ดๆญปๆ€ง็ฅž็ตŒใƒป็ญ‹ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201162" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IV, childhood combined hepatic and myopathic form"@en, "ใ‚ˆใ†ใ˜ใใ‚“ใƒปใ‹ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "ๅนผๅ…็ญ‹ใƒป่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017699 ; + skos:prefLabel "ๅนผๅ…็ญ‹ใƒป่‚ๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja . + + + nando:hasNotificationNumber "65" ; + dcterms:identifier "NANDO:2201163" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IV, adult form"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใจใ†ใ’ใ‚“ใณใ‚‡ใ†4ใŒใŸ"@ja-Hira, "ๆˆไบบๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ใƒใƒชใ‚ฐใƒซใ‚ณใ‚ตใƒณๅฐ่ƒžไฝ“็—…"@ja ; + skos:closeMatch obo:MONDO_0009897 ; + skos:prefLabel "ๆˆไบบๅž‹็ณ–ๅŽŸ็—…IVๅž‹"@ja . + + + nando:hasNotificationNumber "69" ; + dcterms:identifier "NANDO:2201164" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IXa"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใˆใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IXaๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Glycogen storage disease type IX a"@en, "X-linked liver glycogenosis"@en, "XLG"@en, "X้€ฃ้Ž–ๆ€ง่‚ๅž‹็ณ–ๅŽŸ็—…"@ja ; + skos:closeMatch obo:MONDO_0010598 ; + skos:prefLabel "็ณ–ๅŽŸ็—…IXaๅž‹"@ja . + + + nando:hasNotificationNumber "69" ; + dcterms:identifier "NANDO:2201165" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IXb"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใณใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IXbๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IXb"@en, "Glycogen storage disease type IX b"@en, "PHKB-Related Phosphorylase Kinase Deficiency"@en, "่‚็ญ‹ๅž‹็ณ–ๅŽŸ็—…โ…จๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009868 ; + skos:prefLabel "็ณ–ๅŽŸ็—…IXbๅž‹"@ja . + + + nando:hasNotificationNumber "69" ; + dcterms:identifier "NANDO:2201166" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IXc"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใ—ใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IXcๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IXc"@en, "Glycogen storage disease type IX c"@en, "PHKG2-Related Phosphorylase Kinase Deficiency"@en ; + skos:closeMatch obo:MONDO_0013091 ; + skos:prefLabel "็ณ–ๅŽŸ็—…IXcๅž‹"@ja . + + + nando:hasNotificationNumber "69" ; + dcterms:identifier "NANDO:2201167" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Glycogen storage disease type IXd"@en, "ใจใ†ใ’ใ‚“ใณใ‚‡ใ†9ใงใƒใƒผใŒใŸ"@ja-Hira, "็ณ–ๅŽŸ็—…IXdๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "GSD IXd"@en, "PHKA1-Related Phosphorylase Kinase Deficiency"@en, "็ญ‹ๅž‹็ณ–ๅŽŸ็—…โ…จๅž‹"@ja ; + skos:closeMatch obo:MONDO_0010362 ; + skos:prefLabel "็ณ–ๅŽŸ็—…IXdๅž‹"@ja . + + + nando:hasNotificationNumber "129" ; + dcterms:identifier "NANDO:2201168" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hurler Disease"@en, "Hurler็—…"@ja, "ใฏใƒผใ‚‰ใƒผใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hurler's disease"@en ; + skos:closeMatch obo:MONDO_0001586, obo:MONDO_0011758 ; + skos:prefLabel "Hurler็—…"@ja . + + + nando:hasNotificationNumber "129" ; + dcterms:identifier "NANDO:2201169" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Scheie disease"@en, "Scheie็—…"@ja, "ใ—ใ‚ƒใ„ใˆใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011760 ; + skos:prefLabel "Scheie็—…"@ja . + + + nando:hasNotificationNumber "129" ; + dcterms:identifier "NANDO:2201170" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hurler-Scheie disease"@en, "Hurler-Scheie็—…"@ja, "ใฏใƒผใ‚‰ใƒผใ—ใ‚ƒใ„ใˆใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011759 ; + skos:prefLabel "Hurler-Scheie็—…"@ja . + + + nando:hasNotificationNumber "130" ; + dcterms:identifier "NANDO:2201171" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type II, attenuated form"@en, "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "MPS IIB"@en ; + skos:closeMatch obo:MONDO_0016316 ; + skos:prefLabel "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "130" ; + dcterms:identifier "NANDO:2201172" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type II, intermediate form"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016316 ; + skos:prefLabel "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "130" ; + dcterms:identifier "NANDO:2201173" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type II, severe form"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "MPS IIA"@en ; + skos:closeMatch obo:MONDO_0016315 ; + skos:prefLabel "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIๅž‹"@ja . + + + nando:hasNotificationNumber "131" ; + dcterms:identifier "NANDO:2201174" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja, "Mucopolysaccharidosis type III A"@en, "ใˆใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIIA"@en, "Sanfilippo syndrome type A"@en, "heparan N-sylfataseๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009655 ; + skos:prefLabel "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "131" ; + dcterms:identifier "NANDO:2201175" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja, "Mucopolysaccharidosis type III B"@en, "ใณใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIIB"@en, "Sanfilippo syndrome type B"@en, "acetylglucosaminidaseๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009656 ; + skos:prefLabel "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "131" ; + dcterms:identifier "NANDO:2201176" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja, "Mucopolysaccharidosis type III C"@en, "ใ—ใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIIC"@en, "Sanfilippo syndrome type C"@en, "acetylCoA:ฮฑ-glucosaminide acetyltransferaseๆฌ ๆ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009657 ; + skos:prefLabel "Cๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "131" ; + dcterms:identifier "NANDO:2201177" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja, "Mucopolysaccharidosis type III D"@en, "ใงใƒใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†3ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IIID"@en, "Sanfilippo syndrome type D"@en ; + skos:closeMatch obo:MONDO_0009658 ; + skos:prefLabel "Dๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IIIๅž‹"@ja . + + + nando:hasNotificationNumber "132" ; + dcterms:identifier "NANDO:2201178" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹"@ja, "Mucopolysaccharidosis type IV A"@en, "ใˆใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IVA"@en, "Morquio syndrome type A"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Aๅž‹"@ja, "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคAๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009659 ; + skos:prefLabel "Aๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹"@ja . + + + nando:hasNotificationNumber "132" ; + dcterms:identifier "NANDO:2201179" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹"@ja, "Mucopolysaccharidosis type IV B"@en, "ใณใƒผใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†4ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "MPS IVB"@en, "Morquio syndrome B"@en, "ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹Bๅž‹"@ja, "ใƒขใƒซใ‚ญใ‚ช็—‡ๅ€™็พคBๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009660 ; + skos:prefLabel "Bๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡IVๅž‹"@ja . + + + nando:hasNotificationNumber "133" ; + dcterms:identifier "NANDO:2201180" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VI, mild form"@en, "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ"@ja-Hira, "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Maroteaux-Lamy็—‡ๅ€™็พค"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค"@ja ; + skos:prefLabel "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja . + + + nando:hasNotificationNumber "133" ; + dcterms:identifier "NANDO:2201181" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VI, intermediate form"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ"@ja-Hira, "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Maroteaux-Lamy็—‡ๅ€™็พค"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค"@ja ; + skos:prefLabel "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja . + + + nando:hasNotificationNumber "133" ; + dcterms:identifier "NANDO:2201182" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VI, severe form"@en, "ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†6ใŒใŸ"@ja-Hira, "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Maroteaux-Lamy็—‡ๅ€™็พค"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—…"@ja, "ใƒžใƒญใƒˆใƒผใƒปใƒฉใƒŸใƒผ็—‡ๅ€™็พค"@ja ; + skos:prefLabel "้‡็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIๅž‹"@ja . + + + nando:hasNotificationNumber "134" ; + dcterms:identifier "NANDO:2201183" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VII, severe neonatal form"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja . + + + nando:hasNotificationNumber "134" ; + dcterms:identifier "NANDO:2201184" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VII, mild form"@en, "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ"@ja-Hira, "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "่ปฝ็—‡ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja . + + + nando:hasNotificationNumber "134" ; + dcterms:identifier "NANDO:2201185" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mucopolysaccharidosis type VII, intermediate form"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚€ใ“ใŸใจใ†ใ—ใ‚‡ใ†7ใŒใŸ"@ja-Hira, "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไธญ้–“ๅž‹ใƒ ใ‚ณๅคš็ณ–็—‡VIIๅž‹"@ja . + + + nando:hasNotificationNumber "125" ; + dcterms:identifier "NANDO:2201186" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fucosidosis, infantile form"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™"@ja-Hira, "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Fucosidosis type I"@en ; + skos:prefLabel "ไนณๅ…ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "125" ; + dcterms:identifier "NANDO:2201187" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Fucosidosis, milder form"@en, "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใ“ใ—ใฉใƒผใ—ใ™"@ja-Hira, "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Fucosidosis Type II"@en ; + skos:prefLabel "่ปฝ็—‡ๅž‹ใƒ•ใ‚ณใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "128" ; + dcterms:identifier "NANDO:2201188" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alpha-mannosidosis, infantile form"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira, "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "alpha-mannosidosis, type I"@en, "ไนณๅ…ๅž‹๏ผˆtype I๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017732, obo:MONDO_0022424 ; + skos:prefLabel "ไนณๅ…ๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "128" ; + dcterms:identifier "NANDO:2201189" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Alpha-mannosidosis, adult form"@en, "ใ˜ใ‚ƒใใญใ‚“ใ›ใ„ใ˜ใ‚“ใŒใŸใ‚ใ‚‹ใตใใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira, "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "่‹ฅๅนดๆˆไบบๅž‹๏ผˆtype II๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017733 ; + skos:prefLabel "่‹ฅๅนดๆˆไบบๅž‹ฮฑ - ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "128" ; + dcterms:identifier "NANDO:2201190" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Beta-mannosidosis"@en, "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "ในใƒผใŸใพใ‚“ใฎใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ฮฒ-mannosidosis"@en ; + skos:closeMatch obo:MONDO_0009562 ; + skos:prefLabel "ฮฒ-ใƒžใƒณใƒŽใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + nando:hasNotificationNumber "117" ; + dcterms:identifier "NANDO:2201191" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sialidosis type 1"@en, "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™1ใŒใŸ"@ja-Hira, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019346 ; + skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIๅž‹"@ja . + + + nando:hasNotificationNumber "117" ; + dcterms:identifier "NANDO:2201192" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sialidosis type 2"@en, "ใ—ใ‚ใ‚Šใฉใƒผใ—ใ™2ใŒใŸ"@ja-Hira, "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009738 ; + skos:prefLabel "ใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚นIIๅž‹"@ja . + + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:2201193" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactosialidosis, early infantile form"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŠใ‚ˆใณใใ†ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "Sialidosis type II"@en ; + skos:closeMatch obo:MONDO_0009738 ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅŠใณๆ—ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:2201194" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactosialidosis, late infantile form"@en, "ใฐใ‚“ใใซใ‚…ใ†ใ˜ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ™ฉๆœŸไนณๅ…ๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:2201195" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galactosialidosis, juvenile/adult form"@en, "ใ˜ใ‚ƒใใญใ‚“ใŠใ‚ˆใณใ›ใ„ใ˜ใ‚“ใŒใŸใŒใ‚‰ใใจใ—ใ‚ใ‚Šใฉใƒผใ—ใ™"@ja-Hira, "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "่‹ฅๅนดๅŠใณๆˆไบบๅž‹ใ‚ฌใƒฉใ‚ฏใƒˆใ‚ทใ‚ขใƒชใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "118" ; + dcterms:identifier "NANDO:2201196" ; + dcterms:source ; + a owl:Class ; + rdfs:label "GM1 gangliosidosis, infantile form"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira, "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "type 1 GM1 gangliosidosis"@en ; + skos:closeMatch obo:MONDO_0009260 ; + skos:prefLabel "ไนณๅ…ๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "118" ; + dcterms:identifier "NANDO:2201197" ; + dcterms:source ; + a owl:Class ; + rdfs:label "GM1 gangliosidosis, juvenile form"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira, "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "type 2 GM1 gangliosidosis"@en ; + skos:closeMatch obo:MONDO_0009261 ; + skos:prefLabel "่‹ฅๅนดๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "118" ; + dcterms:identifier "NANDO:2201198" ; + dcterms:source ; + a owl:Class ; + rdfs:label "GM1 gangliosidosis, adult form"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใ˜ใƒผใˆใ‚€1ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira, "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "type 3 GM1 gangliosidosis"@en ; + skos:closeMatch obo:MONDO_0009262 ; + skos:prefLabel "ๆˆไบบๅž‹GM1-ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "119" ; + dcterms:identifier "NANDO:2201199" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Tay-Sachs disease"@en, "ใฆใ„ใƒปใ•ใฃใใ™ใณใ‚‡ใ†"@ja-Hira, "ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚นB็•ฐๅž‹"@ja, "Tay-Sachs็—…"@ja ; + skos:closeMatch obo:MONDO_0010100 ; + skos:prefLabel "ใƒ†ใ‚คใƒปใ‚ตใƒƒใ‚ฏใ‚น็—…"@ja . + + + nando:hasNotificationNumber "119" ; + dcterms:identifier "NANDO:2201200" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sandhoff disease"@en, "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Sandhoff็—…"@ja ; + skos:closeMatch obo:MONDO_0010006 ; + skos:prefLabel "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…"@ja . + + + nando:hasNotificationNumber "119" ; + dcterms:identifier "NANDO:2201201" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja, "GM2 gangliosidosis AB variant"@en, "ใˆใƒผใณใƒผใŒใŸใ˜ใƒผใˆใ‚€2ใŒใ‚“ใใ‚ŠใŠใ—ใฉใƒผใ—ใ™"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010099 ; + skos:prefLabel "ABๅž‹GM2ใ‚ฌใƒณใ‚ฐใƒชใ‚ชใ‚ทใƒ‰ใƒผใ‚ทใ‚น"@ja . + + + nando:hasNotificationNumber "112" ; + dcterms:identifier "NANDO:2201202" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Metachromatic leukodystrophy, late infantile form"@en, "ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017729 ; + skos:prefLabel "ๅพŒๆœŸไนณๅ…ๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "112" ; + dcterms:identifier "NANDO:2201203" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Metachromatic leukodystrophy, juvenile form"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009591 ; + skos:prefLabel "่‹ฅๅนดๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "112" ; + dcterms:identifier "NANDO:2201204" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Metachromatic leukodystrophy, adult form"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใ„ใ›ใ‚“ใ›ใ„ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017730 ; + skos:prefLabel "ๆˆไบบๅž‹็•ฐๆŸ“ๆ€ง็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "113" ; + dcterms:identifier "NANDO:2201205" ; + a owl:Class ; + rdfs:label "Saposin B deficiency"@en, "ใ•ใฝใ—ใ‚“ใณใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009590 ; + skos:prefLabel "ใ‚ตใƒใ‚ทใƒณBๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "122" ; + dcterms:identifier "NANDO:2201206" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Niemann-Pick disease type A"@en, "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใˆใƒผใŒใŸ"@ja-Hira, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Niemann-Pick็—…Aๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009756 ; + skos:prefLabel "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Aๅž‹"@ja . + + + nando:hasNotificationNumber "122" ; + dcterms:identifier "NANDO:2201207" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Niemann-Pick disease type B"@en, "ใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใณใƒผใŒใŸ"@ja-Hira, "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Niemann-Pick็—…Bๅž‹"@ja ; + skos:closeMatch obo:MONDO_0011871 ; + skos:prefLabel "ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Bๅž‹"@ja . + + + nando:hasNotificationNumber "122" ; + dcterms:identifier "NANDO:2201208" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile-onset Niemann-Pick disease type C"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ"@ja-Hira, "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ไนณๅ…ๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja . + + + nando:hasNotificationNumber "122" ; + dcterms:identifier "NANDO:2201209" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult-onset Niemann-Pick disease type C"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใซใƒผใพใ‚“ใƒปใดใฃใใณใ‚‡ใ†ใ—ใƒผใŒใŸ"@ja-Hira, "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0016310 ; + skos:prefLabel "ๆˆไบบๅž‹ใƒ‹ใƒผใƒžใƒณใƒปใƒ”ใƒƒใ‚ฏ็—…Cๅž‹"@ja . + + + nando:hasNotificationNumber "115" ; + dcterms:identifier "NANDO:2201210" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gaucher disease type 1"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†1ใŒใŸ"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "GD type 1"@en, "Gaucher็—…1ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009265 ; + skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "115" ; + dcterms:identifier "NANDO:2201211" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gaucher disease type 2"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†2ใŒใŸ"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Gaucher็—…2ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009266 ; + skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ’ๅž‹"@ja . + + + nando:hasNotificationNumber "115" ; + dcterms:identifier "NANDO:2201212" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Gaucher disease type 3"@en, "ใ”ใƒผใ—ใ‡ใณใ‚‡ใ†3ใŒใŸ"@ja-Hira, "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Gaucher็—…3ๅž‹"@ja ; + skos:closeMatch obo:MONDO_0009267 ; + skos:prefLabel "ใ‚ดใƒผใ‚ทใ‚ง็—…๏ผ“ๅž‹"@ja . + + + nando:hasNotificationNumber "124" ; + dcterms:identifier "NANDO:2201213" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Classical Fabry disease"@en, "ใ“ใฆใ‚“ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†"@ja-Hira, "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja . + + + nando:hasNotificationNumber "124" ; + dcterms:identifier "NANDO:2201214" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Variant Fabry disease"@en, "ใ‚ใŒใŸใตใใถใ‚Šใƒผใณใ‚‡ใ†"@ja-Hira, "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "late-onset Fabry disease"@en ; + skos:prefLabel "ไบœๅž‹ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…"@ja . + + + nando:hasNotificationNumber "124" ; + dcterms:identifier "NANDO:2201215" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Heterozygous Fabry disease"@en, "ใตใใถใ‚Šใƒผใณใ‚‡ใ†ใ‘ใ‚“ใ›ใ„ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„"@ja-Hira, "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ•ใ‚กใƒ–ใƒชใƒผ็—…้ก•ๆ€งใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“"@ja . + + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:2201216" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile Krabbe disease"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ไนณๅ…ๅž‹Krabbe็—…"@ja ; + skos:closeMatch obo:MONDO_0016089 ; + skos:prefLabel "ไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:2201217" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-infantile Krabbe disease"@en, "ใ“ใ†ใใซใ‚…ใ†ใ˜ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "ๅพŒๆœŸไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "ๅพŒๆœŸไนณๅ…ๅž‹Krabbe็—…"@ja ; + skos:prefLabel "ๅพŒๆœŸไนณๅ…ๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:2201218" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Juvenile Krabbe disease"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "่‹ฅๅนดๅž‹Krabbe็—…"@ja ; + skos:prefLabel "่‹ฅๅนดๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "114" ; + dcterms:identifier "NANDO:2201219" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult Krabbe disease"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใใ‚‰ใฃในใณใ‚‡ใ†"@ja-Hira, "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๆˆไบบๅž‹Krabbe็—…"@ja ; + skos:closeMatch obo:MONDO_0016091 ; + skos:prefLabel "ๆˆไบบๅž‹ใ‚ฏใƒฉใƒƒใƒ™็—…"@ja . + + + nando:hasNotificationNumber "123" ; + dcterms:identifier "NANDO:2201220" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 1 Farber disease"@en, "ใ“ใฆใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "classic FD"@en, "ๅคๅ…ธๅž‹Farber็—…"@ja ; + skos:prefLabel "ๅคๅ…ธๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "123" ; + dcterms:identifier "NANDO:2201221" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 2 Farber disease"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Intermediate FD"@en, "ไธญ้–“ๅž‹Farber็—…"@ja ; + skos:prefLabel "ไธญ้–“ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "123" ; + dcterms:identifier "NANDO:2201222" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 3 Farber disease"@en, "ใ‘ใ„ใ—ใ‚‡ใ†ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "mild FD"@en, "่ปฝ็—‡ๅž‹Farber็—…"@ja ; + skos:prefLabel "่ปฝ็—‡ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "123" ; + dcterms:identifier "NANDO:2201223" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 4 Farber disease"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "neonatal-visceral FD"@en, "ๆ–ฐ็”Ÿๅ…ๅž‹Farber็—…"@ja ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "123" ; + dcterms:identifier "NANDO:2201224" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 5 Farber disease"@en, "ใ—ใ‚“ใ“ใ†ใ›ใ„ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Neurological Progressive variant"@en, "neurologic FD"@en ; + skos:prefLabel "้€ฒ่กŒๆ€ง็ฅž็ตŒ้šœๅฎณๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "123" ; + dcterms:identifier "NANDO:2201225" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 6 Farber disease"@en, "ใ•ใ‚“ใฉใปใตใณใ‚‡ใ†ใŒใฃใบใ„ใŒใŸใตใใƒผใฐใƒผใณใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Combined Farber and Sandhoff Disease variant"@en ; + skos:prefLabel "ใ‚ตใƒณใƒ‰ใƒ›ใƒ•็—…ๅˆไฝตๅž‹ใƒ•ใ‚กใƒผใƒใƒผ็—…"@ja . + + + nando:hasNotificationNumber "123" ; + dcterms:identifier "NANDO:2201226" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Type 7 Farber disease"@en, "ใตใใƒผใฐใƒผใณใ‚‡ใ†๏ผˆใทใ‚ใ•ใฝใ—ใ‚“ใ‘ใฃใใ‚“ใŒใŸ๏ผ‰"@ja-Hira, "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Prosaposin Deficiency"@en ; + skos:prefLabel "ใƒ•ใ‚กใƒผใƒใƒผ็—…๏ผˆใƒ—ใƒญใ‚ตใƒใ‚ทใƒณๆฌ ๆๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "127" ; + dcterms:identifier "NANDO:2201227" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neonatal multiple sulfatase deficiency"@en, "ใ—ใ‚“ใ›ใ„ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๆ–ฐ็”Ÿๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "127" ; + dcterms:identifier "NANDO:2201228" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late-infantile multiple sulfatase deficiency"@en, "ใซใ‚…ใ†ใ‚ˆใ†ใ˜ใŒใŸใพใ‚‹ใกใทใ‚‹ใ™ใ‚‹ใตใใŸใƒผใœใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:prefLabel "ไนณๅนผๅ…ๅž‹ใƒžใƒซใƒใƒ—ใƒซใ‚นใƒซใƒ•ใ‚กใ‚ฟใƒผใ‚ผๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "126" ; + dcterms:identifier "NANDO:2201229" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Classic infantile Pompe disease"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ไนณๅ…ๅž‹Pompe็—…"@ja ; + skos:closeMatch obo:MONDO_0017694 ; + skos:prefLabel "ไนณๅ…ๅž‹ใƒใƒณใƒš็—…"@ja . + + + nando:hasNotificationNumber "126" ; + dcterms:identifier "NANDO:2201230" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Childhood-onset Pompe disease"@en, "ใ—ใ‚‡ใ†ใซใŒใŸใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๅฐๅ…ๅž‹Pompe็—…"@ja ; + skos:prefLabel "ๅฐๅ…ๅž‹ใƒใƒณใƒš็—…"@ja . + + + nando:hasNotificationNumber "126" ; + dcterms:identifier "NANDO:2201231" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult-onset Pompe disease"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใฝใ‚“ใบใณใ‚‡ใ†"@ja-Hira, "ๆˆไบบๅž‹ใƒใƒณใƒš็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ๆˆไบบๅž‹Pompe็—…"@ja ; + skos:prefLabel "ๆˆไบบๅž‹ใƒใƒณใƒš็—…"@ja . + + + nando:hasNotificationNumber "116" ; + dcterms:identifier "NANDO:2201232" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Wolman disease"@en, "ใ†ใ‰ใ‚‹ใพใ‚“ใณใ‚‡ใ†"@ja-Hira, "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Wolman็—…"@ja ; + skos:closeMatch obo:MONDO_0019148 ; + skos:prefLabel "ใ‚ฆใ‚ฉใƒซใƒžใƒณ็—…"@ja . + + + nando:hasNotificationNumber "116" ; + dcterms:identifier "NANDO:2201233" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Cholesterol ester storage disease"@en, "ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใˆใ™ใฆใ‚‹ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CESD"@en ; + skos:closeMatch obo:MONDO_0019149 ; + skos:prefLabel "ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซใ‚จใ‚นใƒ†ใƒซ่“„็ฉ็—‡"@ja . + + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:2201234" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Nephropathic cystinosis"@en, "ใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Infantile nephropathic cystinosis"@en ; + skos:closeMatch obo:MONDO_0018467, obo:MONDO_0100151 ; + skos:prefLabel "่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:2201235" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intermediate cystinosis"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Juvenile cystinosis"@en, "Juvenile nephropathic cystinosis"@en ; + skos:closeMatch obo:MONDO_0009066 ; + skos:prefLabel "ไธญ้–“ๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "120" ; + dcterms:identifier "NANDO:2201236" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-nephropathic cystinosis "@en, "ใฒใ˜ใ‚“ใŒใŸใ—ใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ocular cystinosis "@en, "็œผๅž‹ใ‚ทใ‚นใƒใƒณ็—…"@ja ; + skos:closeMatch obo:MONDO_0009064 ; + skos:prefLabel "้ž่…Žๅž‹ใ‚ทใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:2201237" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile free sialic acid storage disease"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ISSD"@en, "ๆœ€้‡็—‡ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + skos:closeMatch obo:MONDO_0010027 ; + skos:prefLabel "ไนณๅ…ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja . + + + nando:hasNotificationNumber "137" ; + dcterms:identifier "NANDO:2201238" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Intermediate severe Salla disease"@en, "ใกใ‚…ใ†ใ‹ใ‚“ใŒใŸใ‚†ใ†ใ‚Šใ—ใ‚ใ‚‹ใ•ใ‚“ใกใใ›ใใ—ใ‚‡ใ†"@ja-Hira, "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "้‡็—‡Salla็—…"@ja ; + skos:closeMatch obo:MONDO_0017737 ; + skos:prefLabel "ไธญ้–“ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja . + + + nando:hasNotificationNumber "138" ; + dcterms:identifier "NANDO:2201239" ; + a owl:Class ; + rdfs:label "Skeletal dysplasias"@en, "ใ“ใคใ‘ใ„ใจใ†ใ—ใฃใ‹ใ‚“"@ja-Hira, "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja ; + rdfs:subClassOf ; + skos:prefLabel "้ชจ็ณป็ตฑ็–พๆ‚ฃ"@ja . + + + nando:hasNotificationNumber "121" ; + dcterms:identifier "NANDO:2201240" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital neuronal ceroid lipofuscinosis"@en, "ใ›ใ‚“ใฆใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0008956 ; + skos:prefLabel "ๅ…ˆๅคฉๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "121" ; + dcterms:identifier "NANDO:2201241" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Infantile neuronal ceroid lipofuscinosis"@en, "ใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CLN1"@en, "INCL"@en, "Infantile Batten disease"@en ; + skos:closeMatch obo:MONDO_0009744, obo:MONDO_0019261 ; + skos:prefLabel "ไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "121" ; + dcterms:identifier "NANDO:2201242" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Late infantile neuronal ceroid lipofuscinosis"@en, "ใกใฏใคใซใ‚…ใ†ใ˜ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "CLN2"@en, "Jansky-Bielschowsky disease"@en, "LINCL"@en ; + skos:closeMatch obo:MONDO_0008769, obo:MONDO_0015674 ; + skos:prefLabel "้…็™บไนณๅ…ๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "121" ; + dcterms:identifier "NANDO:2201243" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Juvenile neuronal ceroid lipofuscinosis"@en, "ใ˜ใ‚ƒใใญใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Batten disease"@en, "CLN3"@en, "JNCL"@en, "Spielmeyer-Vogt-Sjogren disease"@en ; + skos:closeMatch obo:MONDO_0019262 ; + skos:prefLabel "่‹ฅๅนดๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "121" ; + dcterms:identifier "NANDO:2201244" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult neuronal ceroid lipofuscinosis"@en, "ใ›ใ„ใ˜ใ‚“ใŒใŸใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ANCL"@en, "CLN4"@en, "Kufs disease"@en, "Kufs' disease"@en ; + skos:closeMatch obo:MONDO_0019260 ; + skos:prefLabel "ๆˆไบบๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "121" ; + dcterms:identifier "NANDO:2201245" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical neuronal ceroid lipofuscinosis"@en, "ใฒใฆใ„ใ‘ใ„ใ—ใ‚“ใ‘ใ„ใ›ใ‚ใ„ใฉใ‚Šใฝใตใ™ใกใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้žๅฎšๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "้žๅฎšๅž‹็ฅž็ตŒใ‚ปใƒญใ‚คใƒ‰ใƒชใƒใƒ•ใ‚นใƒใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201246" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Childhood cerebral adrenoleukodystrophy"@en, "ใ—ใ‚‡ใ†ใซใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CCALD"@en ; + skos:closeMatch obo:MONDO_0010247 ; + skos:prefLabel "ๅฐๅ…ๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201247" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adolescent cerebral adrenoleukodystrophy"@en, "ใ—ใ—ใ‚…ใ‚“ใใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AdolCALD"@en ; + skos:prefLabel "ๆ€ๆ˜ฅๆœŸๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201248" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adrenomyeloneuropathy"@en, "ใตใใ˜ใ‚“ใ›ใใšใ„ใซใ‚…ใƒผใ‚ใฑใกใƒผ"@ja-Hira, "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AMN"@en, "Adrenoleukodystrophy"@en, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + skos:closeMatch obo:MONDO_0015339 ; + skos:prefLabel "ๅ‰ฏ่…Ž่„Š้ซ„ใƒ‹ใƒฅใƒผใƒญใƒ‘ใƒใƒผ"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201249" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Adult cerebral adrenoleukodystrophy"@en, "ใ›ใ„ใ˜ใ‚“ใ ใ„ใฎใ†ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ACALD"@en ; + skos:prefLabel "ๆˆไบบๅคง่„ณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201250" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Atypical X-linked adult adrenoleukodystrophy"@en, "ใ—ใ‚‡ใ†ใฎใ†ใƒปใฎใ†ใ‹ใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๅฐ่„ณใƒป่„ณๅนนๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201251" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Addison-only adrenoleukodystrophy"@en, "ใ‚ใ˜ใใ‚“ใŒใŸใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ"@ja-Hira, "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใ‚ธใ‚ฝใƒณๅž‹ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201252" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Female adrenoleukodystrophy"@en, "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใ˜ใ‚‡ใ›ใ„ใฏใฃใ—ใ‚‡ใ†ใ—ใ‚ƒ๏ผ‰"@ja-Hira, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆๅฅณๆ€ง็™บ็—‡่€…๏ผ‰"@ja . + + + nando:hasNotificationNumber "81" ; + dcterms:identifier "NANDO:2201253" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pre-symptomatic male adrenoleukodystrophy"@en, "ใตใใ˜ใ‚“ใฏใใ—ใคใ˜ใ™ใจใ‚ใตใƒใƒผ๏ผˆใฏใฃใ—ใ‚‡ใ†ใพใˆใ ใ‚“ใ›ใ„ใชใฉ๏ผ‰"@ja-Hira, "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ็™บ็—‡ๅ‰็”ทๆ€ง็ญ‰๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆใใฎไป–๏ผ‰"@ja ; + skos:prefLabel "ๅ‰ฏ่…Ž็™ฝ่ณชใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผ๏ผˆ็™บ็—‡ๅ‰็”ทๆ€ง็ญ‰๏ผ‰"@ja . + + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:2201254" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Heterozygous familial hypercholesterolemia"@en, "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใธใฆใ‚ใ›ใคใ”ใ†ใŸใ„"@ja-Hira, "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "FHใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“"@ja, "Heterozygous FH"@en, "Heterozygous familial hypercholesterolaemia"@en ; + skos:prefLabel "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ˜ใƒ†ใƒญๆŽฅๅˆไฝ“"@ja . + + + nando:hasNotificationNumber "34" ; + dcterms:identifier "NANDO:2201255" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Homozygous familial hypercholesterolemia"@en, "ใ‹ใžใใ›ใ„ใ“ใ†ใ“ใ‚Œใ™ใฆใ‚ใƒผใ‚‹ใ‘ใฃใ—ใ‚‡ใ†ใปใ‚‚ใ›ใคใ”ใ†ใŸใ„"@ja-Hira, "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "FHใƒ›ใƒขๆŽฅๅˆไฝ“"@ja, "Homozygous FH"@en, "Homozygous familial hypercholesterolaemia"@en ; + skos:closeMatch obo:MONDO_0018328 ; + skos:prefLabel "ๅฎถๆ—ๆ€ง้ซ˜ใ‚ณใƒฌใ‚นใƒ†ใƒญใƒผใƒซ่ก€็—‡ใƒ›ใƒขๆŽฅๅˆไฝ“"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201256" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ehlers-Danlos syndrome, classical type"@en, "ใ“ใฆใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "classical EDS"@en ; + skos:closeMatch obo:MONDO_0007522 ; + skos:prefLabel "ๅคๅ…ธๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201257" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ehlers-Danlos syndrome, hypermobility type"@en, "ใ‹ใ‚“ใ›ใคใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Hypermobile EDS"@en ; + skos:closeMatch obo:MONDO_0007523 ; + skos:prefLabel "้–ข็ฏ€ๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201258" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ehlers-Danlos syndrome, vascular type"@en, "ใ‘ใฃใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Vascular EDS"@en ; + skos:closeMatch obo:MONDO_0017314 ; + skos:prefLabel "่ก€็ฎกๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201259" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ehlers-Danlos syndrome, kyphoscoliotic type"@en, "ใ“ใ†ใใใ‚ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Kyphoscoliosis EDS"@en ; + skos:closeMatch obo:MONDO_0016002, obo:MONDO_0034024 ; + skos:prefLabel "ๅพŒๅดๅฝŽๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201260" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ehlers-Danlos syndrome, arthrochalasis type"@en, "ใŸใฏใคใ‹ใ‚“ใ›ใคใ—ใ‹ใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Arthrochalasia EDS"@en ; + skos:closeMatch obo:MONDO_0007525 ; + skos:prefLabel "ๅคš็™บ้–ข็ฏ€ๅผ›็ทฉๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201261" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Ehlers-Danlos syndrome, dermatosparaxis type"@en, "ใฒใตใœใ„ใ˜ใ‚ƒใใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Dermatosparaxis EDS"@en ; + skos:closeMatch obo:MONDO_0009161 ; + skos:prefLabel "็šฎ่†š่„†ๅผฑๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201262" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome"@en, "ใงใ‚‹ใพใŸใ‚“4ใŠใƒผใ‚Šใ‚…ใ†ใ•ใ‚“ใใฆใ‚“ใ„ใ“ใ†ใ1ใ‘ใฃใใ‚“ใŒใŸใˆใƒผใ‚‰ใ™ใƒปใ ใ‚“ใ‚ใ™ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011142 ; + skos:prefLabel "ใƒ‡ใƒซใƒžใ‚ฟใƒณ4-O-็กซ้…ธๅŸบ่ปข็งป้…ต็ด -1ๆฌ ๆๅž‹ใ‚จใƒผใƒฉใ‚นใƒปใƒ€ใƒณใƒญใ‚น็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201263" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Acute intermittent porphyria"@en, "ใใ‚…ใ†ใ›ใ„ใ‹ใ‚“ใ‘ใคใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "AIP"@en, "AIP"@ja ; + skos:closeMatch obo:MONDO_0008294 ; + skos:prefLabel "ๆ€ฅๆ€ง้–“ๆฌ ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201264" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hereditary coproporphyria"@en, "ใ„ใงใ‚“ใ›ใ„ใ“ใทใ‚ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HCP"@en, "HCP"@ja ; + skos:closeMatch obo:MONDO_0007369 ; + skos:prefLabel "้บไผๆ€งใ‚ณใƒ—ใƒญใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201265" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Variegate porphyria"@en, "ใ„ใ‘ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "VP"@en ; + skos:closeMatch obo:MONDO_0008297 ; + skos:prefLabel "็•ฐๅž‹ใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201266" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Erythropoietic protoporphyria"@en, "ใ›ใใŒใใ‚…ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "EPP"@en ; + skos:closeMatch obo:MONDO_0001676, obo:MONDO_0008319 ; + skos:prefLabel "่ตค่Šฝ็ƒๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201267" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Porphyria cutanea tarda"@en, "ใฐใ‚“ใฏใคใ›ใ„ใฒใตใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PCT"@en ; + skos:closeMatch obo:MONDO_0015104 ; + skos:prefLabel "ๆ™ฉ็™บๆ€ง็šฎ่†šใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201268" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital erythropoietic porphyria"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CEP"@en ; + skos:closeMatch obo:MONDO_0009902 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201269" ; + dcterms:source ; + a owl:Class ; + rdfs:label "X-linked dominant protoporphyria"@en, "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ‚†ใ†ใ›ใ„ใทใ‚ใจใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "XLDPP"@en ; + skos:closeMatch obo:MONDO_0010420 ; + skos:prefLabel "X้€ฃ้Ž–ๅ„ชๆ€งใƒ—ใƒญใƒˆใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201270" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatoerythropoietic porphyria"@en, "ใ‹ใ‚“ใ›ใ„ใ“ใคใšใ„ใ›ใ„ใฝใ‚‹ใตใƒใ‚Šใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HEP"@en ; + skos:closeMatch obo:MONDO_0019799 ; + skos:prefLabel "่‚ๆ€ง้ชจ้ซ„ๆ€งใƒใƒซใƒ•ใ‚ฃใƒชใƒณ็—‡"@ja . + + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:2201271" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic autoimmune hemolytic anemia"@en, "ใจใใฏใคใ›ใ„ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "็‰น็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Idiopathic AIHA"@en, "Idiopathic autoimmune haemolytic anaemia"@en ; + skos:prefLabel "็‰น็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "23" ; + dcterms:identifier "NANDO:2201272" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Secondary autoimmune hemolytic anemia"@en, "ใžใใฏใคใ›ใ„ใ˜ใ“ใ‚ใ‚“ใˆใใ›ใ„ใ‚ˆใ†ใ‘ใคใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "็ถš็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Secondary AIHA"@en, "Secondary autoimmune haemolytic anaemia"@en ; + skos:prefLabel "็ถš็™บๆ€ง่‡ชๅทฑๅ…็–ซๆ€งๆบถ่ก€ๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201273" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ฮฑ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข"@ja, "ฮฑ-thalassemia"@en, "ใ‚ใ‚‹ใตใใ•ใ‚‰ใ›ใฟใ‚"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Alpha-thalassaemia"@en, "Alpha-thalassemia"@en, "ฮฑ-thalassaemia"@en ; + skos:closeMatch obo:MONDO_0011399 ; + skos:prefLabel "ฮฑ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201274" ; + dcterms:source ; + a owl:Class ; + rdfs:label "ฮฒ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข"@ja, "ฮฒ-thalassemia"@en, "ในใƒผใŸใ•ใ‚‰ใ›ใฟใ‚"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Beta-thalassaemia"@en, "Beta-thalassemia"@en, "ฮฒ-thalassaemia"@en ; + skos:closeMatch obo:MONDO_0019402 ; + skos:prefLabel "ฮฒ - ใ‚ตใƒฉใ‚ปใƒŸใ‚ข"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201275" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Congenital aplastic anemia"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Congenital aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0001713 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201276" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Idiopathic aplastic anemia"@en, "ใจใใฏใคใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Idiopathic aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0012197 ; + skos:prefLabel "็‰น็™บๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201277" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Secondary aplastic anemia"@en, "ใซใ˜ใ›ใ„ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Secondary aplastic anaemia"@en ; + skos:closeMatch obo:MONDO_0015610 ; + skos:prefLabel "ไบŒๆฌกๆ€งๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201278" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hepatitis-associated aplastic anemia"@en, "ใ‹ใ‚“ใˆใ‚“ใ”ใ•ใ„ใ›ใ„ใตใ‚Šใ‚‡ใ†ใ›ใ„ใฒใ‚“ใ‘ใค"@ja-Hira, "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Hepatitis-associated aplastic anaemia"@en ; + skos:prefLabel "่‚็‚ŽๅพŒๅ†็”Ÿไธ่‰ฏๆ€ง่ฒง่ก€"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201279" ; + dcterms:source ; + a owl:Class ; + rdfs:label "gp91phox-deficient chronic granulomatous disease"@en, "gp91phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja, "ใ˜ใƒผใดใƒผ91ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010389 ; + skos:prefLabel "gp91phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201280" ; + dcterms:source ; + a owl:Class ; + rdfs:label "p22phox-deficient chronic granulomatous disease"@en, "p22phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja, "ใดใƒผ22ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009308 ; + skos:prefLabel "p22phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201281" ; + dcterms:source ; + a owl:Class ; + rdfs:label "p47phox-deficient chronic granulomatous disease"@en, "p47phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja, "ใดใƒผ47ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009309 ; + skos:prefLabel "p47phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201282" ; + dcterms:source ; + a owl:Class ; + rdfs:label "p67phox-deficient chronic granulomatous disease"@en, "p67phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja, "ใดใƒผ67ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009310 ; + skos:prefLabel "p67phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201283" ; + dcterms:source ; + a owl:Class ; + rdfs:label "p40phox-deficient chronic granulomatous disease"@en, "p40phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja, "ใดใƒผ40ใตใ‰ใฃใใ™ใ‘ใฃใใ‚“ใพใ‚“ใ›ใ„ใซใใ’ใ—ใ‚…ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0013507 ; + skos:prefLabel "p40phoxๆฌ ๆๆ…ขๆ€ง่‚‰่Šฝ่…ซ็—‡"@ja . + + + nando:hasNotificationNumber "54" ; + dcterms:identifier "NANDO:2201284" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Altman type I sacrococcygeal teratoma"@en, "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“1ใŒใŸ๏ผ‰"@ja-Hira, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman Iๅž‹๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman Iๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "54" ; + dcterms:identifier "NANDO:2201285" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Altman type II sacrococcygeal teratoma"@en, "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“2ใŒใŸ๏ผ‰"@ja-Hira, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIๅž‹๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "54" ; + dcterms:identifier "NANDO:2201286" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Altman type III sacrococcygeal teratoma"@en, "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“3ใŒใŸ๏ผ‰"@ja-Hira, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIIๅž‹๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IIIๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "54" ; + dcterms:identifier "NANDO:2201287" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Altman type IV sacrococcygeal teratoma"@en, "ใ›ใ‚“ใณใถใใ‘ใ„ใ—ใ‚…๏ผˆใ‚ใ‚‹ใจใพใ‚“4ใŒใŸ๏ผ‰"@ja-Hira, "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IVๅž‹๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "Presacral teratoma"@en ; + skos:closeMatch obo:MONDO_0042727 ; + skos:prefLabel "ไป™ๅฐพ้ƒจๅฅ‡ๅฝข่…ซ๏ผˆAltman IVๅž‹๏ผ‰"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201288" ; + a owl:Class ; + rdfs:label "Pelizaeus-Merzbacher disease"@en, "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใณใ‚‡ใ†"@ja-Hira, "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PMD"@en, "PMD"@ja, "Pelizaeus-Merzbacher็—…"@ja ; + skos:closeMatch obo:MONDO_0010714 ; + skos:prefLabel "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒ็—…"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201289" ; + a owl:Class ; + rdfs:label "Pelizaeus-Merzbacher like disease"@en, "ใบใ‚Šใคใ‡ใ†ใ™ใƒปใ‚ใ‚‹ใคใฐใฃใฏใ‚ˆใ†ใณใ‚‡ใ†1"@ja-Hira, "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PMLD1"@en, "Pelizaeus-Merzbacher like disease 1"@en, "Pelizaeus-Merzbacherๆง˜็—…๏ผ‘"@ja ; + skos:closeMatch obo:MONDO_0017226 ; + skos:prefLabel "ใƒšใƒชใƒ„ใ‚งใ‚ฆใ‚นใƒปใƒกใƒซใƒ„ใƒใƒƒใƒๆง˜็—…๏ผ‘"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201290" ; + a owl:Class ; + rdfs:label "Hypomyelination with atrophy of the basal ganglia and cerebellum"@en, "ใใฆใ„ใ‹ใใŠใ‚ˆใณใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HABC"@en ; + skos:closeMatch obo:MONDO_0012905 ; + skos:prefLabel "ๅŸบๅบ•ๆ ธใŠใ‚ˆใณๅฐ่„ณ่Ž็ธฎใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201291" ; + a owl:Class ; + rdfs:label "18q-syndrome"@en, "18qๆฌ ๅคฑ็—‡ๅ€™็พค"@ja, "18ใใ‚…ใƒผใ‘ใฃใ—ใคใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0011147 ; + skos:prefLabel "18qๆฌ ๅคฑ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201292" ; + a owl:Class ; + rdfs:label "Allan-Herndon-Dudley syndrome"@en, "ใ‚ใ‚‰ใ‚“ใƒปใฏใƒผใ‚“ใฉใ‚“ใƒปใ ใฉใ‚Šใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "AHDS"@en, "Allan-Herndon-Dudley็—‡ๅ€™็พค"@ja, "MCT8ๆฌ ๆ็—‡"@ja, "Monocarboxylate transporter 8 deficiency"@en ; + skos:closeMatch obo:MONDO_0010354 ; + skos:prefLabel "ใ‚ขใƒฉใƒณใƒปใƒใƒผใƒณใƒ‰ใƒณใƒปใƒ€ใƒ‰ใƒชใƒผ็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201293" ; + a owl:Class ; + rdfs:label "Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ็—…"@ja, "Mitochondrial Hsp60 chaperonopathy"@en, "ใˆใ„ใกใˆใ™ใดใƒผ60ใ—ใ‚ƒใบใ‚ใ‚“ใณใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HSP60 chaperon็—…"@ja ; + skos:closeMatch obo:MONDO_0012824 ; + skos:prefLabel "Hsp60ใ‚ทใƒฃใƒšใƒญใƒณ็—…"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201294" ; + a owl:Class ; + rdfs:label "Salla disease"@en, "ใ•ใ‚‰ใณใ‚‡ใ†"@ja-Hira, "ใ‚ตใƒฉ็—…"@ja ; + rdfs:seeAlso , , , ; + rdfs:subClassOf ; + skos:altLabel "SD"@en, "Salla็—…"@ja, "ๆœ€่ปฝ็—‡ๅž‹้Š้›ขใ‚ทใ‚ขใƒซ้…ธ่“„็ฉ็—‡"@ja ; + skos:closeMatch obo:MONDO_0011449 ; + skos:prefLabel "ใ‚ตใƒฉ็—…"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201295" ; + a owl:Class ; + rdfs:label "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum"@en, "ใ—ใ‚‡ใ†ใฎใ†ใ„ใ—ใ‚…ใใจใฎใ†ใ‚Šใ‚‡ใ†ใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใณใพใ‚“ใ›ใ„ใ ใ„ใฎใ†ใฏใใ—ใคใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณใพใ‚“ๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018655 ; + skos:prefLabel "ๅฐ่„ณ่Ž็ธฎใจ่„ณๆขไฝŽๅฝขๆˆใ‚’ไผดใ†ใณใพใ‚“ๆ€งๅคง่„ณ็™ฝ่ณชๅฝขๆˆไธๅ…จ็—‡"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201296" ; + a owl:Class ; + rdfs:label "Hypomyelination and congenital cataract"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใฏใใชใ„ใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "HCC"@en ; + skos:closeMatch obo:MONDO_0012514 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง็™ฝๅ†…้šœใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201297" ; + a owl:Class ; + rdfs:label "Ataxia, delayed dentition, and hypomyelination syndrome"@en, "ใ—ใฃใกใ‚‡ใ†ใ€ใ—ใŒใฆใ„ใ‘ใ„ใ›ใ„ใ‚’ใจใ‚‚ใชใ†ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†"@ja-Hira, "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ADDH"@en ; + skos:closeMatch obo:MONDO_0011897 ; + skos:prefLabel "ๅคฑ่ชฟใ€ๆญฏ็‰™ไฝŽๅฝขๆˆใ‚’ไผดใ†้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡"@ja . + + + nando:hasNotificationNumber "4" ; + dcterms:identifier "NANDO:2201298" ; + a owl:Class ; + rdfs:label "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease"@en, "ใ ใคใšใ„ใŒใŸใพใฃใ—ใ‚‡ใ†ใ—ใ‚“ใ‘ใ„ใ—ใ‚‡ใ†ใŒใ„ใ€ใกใ‚…ใ†ใ™ใ†ใ›ใ„ใšใ„ใ—ใ‚‡ใ†ใ‘ใ„ใ›ใ„ใตใœใ‚“ใ—ใ‚‡ใ†ใ€ใ‚ใƒผใงใ‚“ใฐใƒผใใ—ใ‚‡ใ†ใ“ใ†ใใ‚“ใ€ใฒใ‚‹ใ—ใ‚…ใ™ใทใ‚‹ใ‚“ใใณใ‚‡ใ†"@ja-Hira, "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "PCWH"@en, "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€Waardenburg็—‡ๅ€™็พคใ€Hirschsprung็—…"@ja ; + skos:closeMatch obo:MONDO_0012198 ; + skos:prefLabel "่„ฑ้ซ„ๅž‹ๆœซๆขข็ฅž็ตŒ้šœๅฎณใ€ไธญๆžขๆ€ง้ซ„้ž˜ๅฝขๆˆไธๅ…จ็—‡ใ€ใƒฏใƒผใƒ‡ใƒณใƒใƒผใ‚ฐ็—‡ๅ€™็พคใ€ใƒ’ใƒซใ‚ทใƒฅใ‚นใƒ—ใƒซใƒณใ‚ฐ็—…"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:2201299" ; + a owl:Class ; + rdfs:label "AGAT deficiency"@en, "AGATๆฌ ๆ็—‡"@ja, "ใˆใƒผใ˜ใƒผใˆใƒผใฆใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0012996 ; + skos:prefLabel "AGATๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:2201300" ; + a owl:Class ; + rdfs:label "GAMT deficiency"@en, "GAMTๆฌ ๆ็—‡"@ja, "ใ˜ใƒผใˆใƒผใˆใ‚€ใฆใƒใƒผใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Guanidinoacetate methyltransferase deficiency"@en ; + skos:closeMatch obo:MONDO_0012999 ; + skos:prefLabel "GAMTๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "64" ; + dcterms:identifier "NANDO:2201301" ; + a owl:Class ; + rdfs:label "SLC6A8 deficiency"@en, "SLC6A8ๆฌ ๆ็—‡"@ja, "ใˆใ™ใˆใ‚‹ใ—ใƒผ6ใˆใƒผ8ใ‘ใฃใใ‚“ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "X-linked creatine transporter deficiency"@en ; + skos:closeMatch obo:MONDO_0010305 ; + skos:prefLabel "SLC6A8ๆฌ ๆ็—‡"@ja . + + + nando:hasNotificationNumber "33" ; + dcterms:identifier "NANDO:2201302" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-syndromic sagittal craniosynostosis"@en, "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018112 ; + skos:prefLabel "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "33" ; + dcterms:identifier "NANDO:2201303" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-syndromic coronal craniosynostosis"@en, "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "33" ; + dcterms:identifier "NANDO:2201304" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-syndromic lambdoid craniosynostosis"@en, "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆใƒฉใƒ ใƒ€็ธซๅˆ๏ผ‰"@ja ; + skos:prefLabel "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "33" ; + dcterms:identifier "NANDO:2201305" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-syndromic metopic craniosynostosis"@en, "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0018065 ; + skos:prefLabel "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "33" ; + dcterms:identifier "NANDO:2201306" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-syndromic squamosal craniosynostosis"@en, "ใฒใ—ใ‚‡ใ†ใ“ใ†ใ›ใ„ใšใŒใ„ใ“ใคใปใ†ใ”ใ†ใใ†ใใ‚†ใ”ใ†ใ—ใ‚‡ใ†๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "้ž็—‡ๅ€™ๆ€ง้ ญ่“‹้ชจ็ธซๅˆๆ—ฉๆœŸ็™’ๅˆ็—‡๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201307" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Apert syndrome (sagittal synostosis)"@en, "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201308" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Apert syndrome (coronal synostosis)"@en, "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201309" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Apert syndrome (lambdoid synostosis)"@en, "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201310" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Apert syndrome (metopic synostosis)"@en, "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "31" ; + dcterms:identifier "NANDO:2201311" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Apert syndrome (squamosal synostosis)"@en, "ใ‚ใบใƒผใ‚‹ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒšใƒผใƒซ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "32" ; + dcterms:identifier "NANDO:2201312" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crouzon disease (sagittal synostosis)"@en, "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "32" ; + dcterms:identifier "NANDO:2201313" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crouzon disease (coronal synostosis)"@en, "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "32" ; + dcterms:identifier "NANDO:2201314" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crouzon disease (lambdoid synostosis)"@en, "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "32" ; + dcterms:identifier "NANDO:2201315" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crouzon disease (metopic synostosis)"@en, "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "32" ; + dcterms:identifier "NANDO:2201316" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Crouzon disease (squamosal synostosis)"@en, "ใใ‚‹ใƒผใžใ‚“ใณใ‚‡ใ†๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ฏใƒซใƒผใ‚พใƒณ็—…๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:2201317" ; + a owl:Class ; + rdfs:label "Anti-NMDA receptor encephalitis"@en, "ใ“ใ†ใˆใฌใˆใ‚€ใงใƒใƒผใˆใƒผใ˜ใ‚…ใ‚ˆใ†ใŸใ„ใฎใ†ใˆใ‚“"@ja-Hira, "ๆŠ—NMDAๅ—ๅฎนไฝ“่„ณ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0021081 ; + skos:prefLabel "ๆŠ—NMDAๅ—ๅฎนไฝ“่„ณ็‚Ž"@ja . + + + nando:hasNotificationNumber "18" ; + dcterms:identifier "NANDO:2201318" ; + a owl:Class ; + rdfs:label "Anti-VGKC complex antibody encephalitis"@en, "ใ“ใ†ใถใ„ใ˜ใƒผใ‘ใƒผใ—ใƒผใตใใ”ใ†ใŸใ„ใ“ใ†ใŸใ„ใ‚ˆใ†ใ›ใ„ใฎใ†ใˆใ‚“"@ja-Hira, "ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้™ฝๆ€ง่„ณ็‚Ž"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆŠ—VGKC่ค‡ๅˆไฝ“ๆŠ—ไฝ“้™ฝๆ€ง่„ณ็‚Ž"@ja . + + + nando:hasNotificationNumber "59" ; + dcterms:identifier "NANDO:2201319" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Relapsing-remitting multiple sclerosis"@en, "ใ•ใ„ใฏใคใ‹ใ‚“ใ‹ใ„ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "RRMS"@en, "relapsing-remitting MS"@en, "ๅ†็™บๅž‹MS"@ja, "ๅ†็™บๅฏ›่งฃๅž‹MS"@ja ; + skos:closeMatch obo:MONDO_0005314 ; + skos:prefLabel "ๅ†็™บๅฏ›่งฃๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "59" ; + dcterms:identifier "NANDO:2201320" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Primary progressive multiple sclerosis"@en, "ใ„ใกใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "PPMS"@en, "primary progressive MS"@en, "ไธ€ๆฌกๆ€งๆ…ขๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + skos:closeMatch obo:MONDO_0000451 ; + skos:prefLabel "ไธ€ๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "59" ; + dcterms:identifier "NANDO:2201321" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Secondary progressive multiple sclerosis"@en, "ใซใ˜ใ›ใ„ใ—ใ‚“ใ“ใ†ใŒใŸใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SPMS"@en, "secondary progressive"@en, "ไบŒๆฌกๆ€งๆ…ขๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja, "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹MS"@ja ; + skos:closeMatch obo:MONDO_0000450 ; + skos:prefLabel "ไบŒๆฌกๆ€ง้€ฒ่กŒๅž‹ๅคš็™บๆ€ง็กฌๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "59" ; + dcterms:identifier "NANDO:2201322" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Neuromyelitis optica"@en, "ใ—ใ—ใ‚“ใ‘ใ„ใ›ใใšใ„ใˆใ‚“"@ja-Hira, "่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "NMO"@en ; + skos:closeMatch obo:MONDO_0019100 ; + skos:prefLabel "่ฆ–็ฅž็ตŒ่„Š้ซ„็‚Ž"@ja . + + + nando:hasNotificationNumber "59" ; + dcterms:identifier "NANDO:2201323" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Other multiple sclerosis"@en, "ใŸใฏใคใ›ใ„ใ“ใ†ใ‹ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰"@ja-Hira, "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆใใฎไป–๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅคš็™บๆ€ง็กฌๅŒ–็—‡๏ผˆใใฎไป–๏ผ‰"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201324" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Purely ocular myasthenia gravis"@en, "ใ˜ใ‚…ใ‚“ใ™ใ„ใŒใ‚“ใใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "็ด”็ฒ‹็œผ็ญ‹ๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็ด”็ฒ‹็œผ็ญ‹ๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201325" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Latent general myasthenia gravis"@en, "ใ›ใ‚“ใ–ใ„ใ›ใ„ใœใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "ๆฝœๅœจๆ€งๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆฝœๅœจๆ€งๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201326" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Generalized myasthenia gravis"@en, "ใ›ใ‚“ใ—ใ‚“ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "ๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅ…จ่บซๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja . + + + nando:hasNotificationNumber "16" ; + dcterms:identifier "NANDO:2201327" ; + dcterms:source ; + a owl:Class ; + rdfs:label "1ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "Iๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type I biliary atresia"@en ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "Iๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "16" ; + dcterms:identifier "NANDO:2201328" ; + dcterms:source ; + a owl:Class ; + rdfs:label "1ใ—ใ™ใจใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "Icystๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type I cystic biliary atresia"@en ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "Icystๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "16" ; + dcterms:identifier "NANDO:2201329" ; + dcterms:source ; + a owl:Class ; + rdfs:label "2ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "IIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type II biliary atresia"@en ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "IIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "16" ; + dcterms:identifier "NANDO:2201330" ; + dcterms:source ; + a owl:Class ; + rdfs:label "3ใŒใŸใŸใ‚“ใฉใ†ใธใ„ใ•ใ—ใ‚‡ใ†"@ja-Hira, "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja, "Type III biliary atresia"@en ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "IIIๅž‹่ƒ†้“้–‰้Ž–็—‡"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201331" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antley-Bixler syndrome (sagittal synostosis)"@en, "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201332" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antley-Bixler syndrome (coronal synostosis)"@en, "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201333" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antley-Bixler syndrome (lambdoid synostosis)"@en, "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201334" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antley-Bixler syndrome (metopic synostosis)"@en, "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "8" ; + dcterms:identifier "NANDO:2201335" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Antley-Bixler syndrome (squamosal synostosis)"@en, "ใ‚ใ‚“ใจใ‚Œใƒผใƒปใณใใ™ใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใ‚ขใƒณใƒˆใƒฌใƒผใƒปใƒ“ใ‚ฏใ‚นใƒฉใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2201336" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pfeiffer syndrome (sagittal synostosis)"@en, "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ—ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ็Ÿข็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2201337" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pfeiffer syndrome (coronal synostosis)"@en, "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‹ใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ† ็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2201338" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pfeiffer syndrome (lambdoid synostosis)"@en, "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ˜ใ‚“ใ˜ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆไบบๅญ—็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2201339" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pfeiffer syndrome (metopic synostosis)"@en, "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใœใ‚“ใจใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆๅ‰้ ญ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "28" ; + dcterms:identifier "NANDO:2201340" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Pfeiffer syndrome (squamosal synostosis)"@en, "ใตใใ„ใตใใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“๏ผˆใ‚Šใ‚“ใ˜ใ‚‡ใ†ใปใ†ใ”ใ†๏ผ‰"@ja-Hira, "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ใƒ•ใ‚กใ‚คใƒ•ใ‚กใƒผ็—‡ๅ€™็พค๏ผˆ้ฑ—็Šถ็ธซๅˆ๏ผ‰"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201341" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Epidermolysis bullosa simplex"@en, "ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "EBS"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๅ˜็ด”ๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017610 ; + skos:prefLabel "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201342" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Junctional epidermolysis bullosa"@en, "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "JEB"@en, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆๆŽฅๅˆ้ƒจๅž‹๏ผ‰"@ja ; + skos:closeMatch obo:MONDO_0017612 ; + skos:prefLabel "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201343" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dystrophic epidermolysis bullosa"@en, "ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "DEB"@en ; + skos:closeMatch obo:MONDO_0017608 ; + skos:prefLabel "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201344" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Other epidermolysis bullosa"@en, "ใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰"@ja-Hira, "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201345" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Achondrogenesis type 2"@en, "ใชใ‚“ใ“ใคใ‚€ใฏใฃใ›ใ„ใ—ใ‚‡ใ†2ใŒใŸ"@ja-Hira, "่ปŸ้ชจ็„ก็™บ็”Ÿ็—‡๏ผ’ๅž‹"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "ACG2"@en, "Langer-Saldinoๅž‹"@ja ; + skos:closeMatch obo:MONDO_0008702, obo:MONDO_0008703 ; + skos:prefLabel "่ปŸ้ชจ็„ก็™บ็”Ÿ็—‡๏ผ’ๅž‹"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201346" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Hypochondrogenesis "@en, "ใชใ‚“ใ“ใคใฆใ„ใฏใฃใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่ปŸ้ชจไฝŽ็™บ็”Ÿ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HCG"@en ; + skos:closeMatch obo:MONDO_0008703, obo:MONDO_0019669 ; + skos:prefLabel "่ปŸ้ชจไฝŽ็™บ็”Ÿ็—‡"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201347" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Platyspondylic dysplasia, Torrance type"@en, "ใธใ‚“ใบใ„ใคใ„ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใจใƒผใ‚‰ใ‚“ใ™ใŒใŸ"@ja-Hira, "ๆ‰ๅนณๆคŽ็•ฐๅฝขๆˆ็—‡ Torranceๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007895 ; + skos:prefLabel "ๆ‰ๅนณๆคŽ็•ฐๅฝขๆˆ็—‡ Torranceๅž‹"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201348" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spondyloepiphyseal dysplasia congenita"@en, "ใ›ใ‚“ใฆใ‚“ใ›ใ„ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๅ…ˆๅคฉๆ€ง่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "SEDC"@en ; + skos:closeMatch obo:MONDO_0008471 ; + skos:prefLabel "ๅ…ˆๅคฉๆ€ง่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201349" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spondyloepimetaphyseal dysplasia, Strudwick type"@en, "ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ† ใ™ใจใ‚‰ใฉใ†ใƒใฃใใŒใŸ"@ja-Hira, "่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ Strudwickๅž‹"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SEMD-S"@en ; + skos:closeMatch obo:MONDO_0008476 ; + skos:prefLabel "่„ŠๆคŽ้ชจ็ซฏ้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡ Strudwickๅž‹"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201350" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Kniest dysplasia"@en, "Kniest็•ฐๅฝขๆˆ็—‡"@ja, "ใใซใƒผใ™ใจใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007987 ; + skos:prefLabel "Kniest็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201351" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spondyloperipheral dysplasia"@en, "ใ›ใใคใ„ใพใฃใ—ใ‚‡ใ†ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่„ŠๆคŽๆœซๆขข็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010078 ; + skos:prefLabel "่„ŠๆคŽๆœซๆขข็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201352" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Mild spondyloepiphyseal dysplasia with premature-onset arthrosis"@en, "ใใ†ใฏใคใ›ใ„ใ‹ใ‚“ใ›ใคใ—ใ‚‡ใ†ใ‚’ใจใ‚‚ใชใ†ใ‘ใ„ใ—ใ‚‡ใ†ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๆ—ฉ็™บๆ€ง้–ข็ฏ€็—‡ใ‚’ไผดใ†่ปฝ็—‡่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Mild SED with premature-onset arthrosis"@en ; + skos:closeMatch obo:MONDO_0011496 ; + skos:prefLabel "ๆ—ฉ็™บๆ€ง้–ข็ฏ€็—‡ใ‚’ไผดใ†่ปฝ็—‡่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201353" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Spondyloepiphyseal dysplasia with metatarsal shortening"@en, "ใกใ‚…ใ†ใใใ“ใคใŸใ‚“ใ—ใ‚…ใใ‚’ใจใ‚‚ใชใ†ใ›ใใคใ„ใ“ใฃใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ไธญ่ถณ้ชจ็Ÿญ็ธฎใ‚’ไผดใ†่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Czech dysplasia"@en, "Czech็•ฐๅฝขๆˆ็—‡"@ja, "SED with metatarsal shortening"@en ; + skos:closeMatch obo:MONDO_0012206 ; + skos:prefLabel "ไธญ่ถณ้ชจ็Ÿญ็ธฎใ‚’ไผดใ†่„ŠๆคŽ้ชจ็ซฏ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201354" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stickler syndrome type 1"@en, "Stickler็—‡ๅ€™็พค๏ผ‘ๅž‹"@ja, "ใ™ใฆใƒใฃใใ‚‰ใƒผใ—ใ‚‡ใ†ใ“ใ†ใใ‚“1ใŒใŸ"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007160 ; + skos:prefLabel "Stickler็—‡ๅ€™็พค๏ผ‘ๅž‹"@ja . + + + nando:hasNotificationNumber "15" ; + dcterms:identifier "NANDO:2201355" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stickler-like syndrome"@en, "Sticklerๆง˜็—‡ๅ€™็พค"@ja, "ใ™ใฆใƒใฃใใ‚‰ใƒผใ‚ˆใ†ใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "Sticklerๆง˜็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201356" ; + dcterms:source ; + a owl:Class ; + rdfs:label "X-linked recessive brachytelephalangic chondrodysplasia punctata"@en, "X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja, "ใˆใฃใใ™ใ‚Œใ‚“ใ•ใ›ใ„ใ‚Œใฃใ›ใ„ใพใฃใ›ใคใ“ใคใŸใ‚“ใ—ใ‚…ใใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "CDPX1"@en, "CDPX1"@ja ; + skos:closeMatch obo:MONDO_0010555 ; + skos:prefLabel "X้€ฃ้Ž–ๆ€งๅŠฃๆ€งๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201357" ; + dcterms:source ; + a owl:Class ; + rdfs:label "X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type"@en, "XๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง Conradi-Hunermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja, "ใˆใฃใใ™ใ›ใ‚“ใ—ใ‚‡ใใŸใ„ใ‚†ใ†ใ›ใ„ใ“ใ‚“ใ‚‰ใƒผใงใƒใฒใ‚…ใƒผใญใ‚‹ใพใ‚“ใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CDPX2"@en, "CDPX2"@ja ; + skos:closeMatch obo:MONDO_0020603 ; + skos:prefLabel "XๆŸ“่‰ฒไฝ“ๅ„ชๆ€ง Conradi-Hunermannๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201358" ; + dcterms:source ; + a owl:Class ; + rdfs:label "CHILD syndrome"@en, "CHILD็—‡ๅ€™็พค"@ja, "ใกใ‚ƒใ„ใ‚‹ใฉใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Congenital hemidysplasia with ichthyosiform nevus and limb defects"@en ; + skos:closeMatch obo:MONDO_0010621 ; + skos:prefLabel "CHILD็—‡ๅ€™็พค"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201359" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Chondrodysplasia punctata, tibial-metacarpal type"@en, "ใ‘ใ„ใ“ใคใƒปใกใ‚…ใ†ใ—ใ‚…ใ“ใคใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0007322 ; + skos:prefLabel "่„›้ชจใƒปไธญๆ‰‹้ชจๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201360" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Brachytelephalangic chondrodysplasia punctata"@en, "ใพใฃใ›ใคใ“ใคใŸใ‚“ใ—ใ‚…ใใŒใŸใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "ๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0010555 ; + skos:prefLabel "ๆœซ็ฏ€้ชจ็Ÿญ็ธฎๅž‹็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201361" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Greenberg dysplasia"@en, "Greenberg้ชจ็•ฐๅฝขๆˆ็—‡"@ja, "ใใ‚Šใƒผใ‚“ใฐใƒผใใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "HEM dysplasia"@en ; + skos:closeMatch obo:MONDO_0008974 ; + skos:prefLabel "Greenberg้ชจ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201362" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Astley-Kendall dysplasia"@en, "Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡"@ja, "ใ‚ใ™ใจใ‚Œใƒผใ‘ใ‚“ใŸใ‚‹ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0019408 ; + skos:prefLabel "Astley-Kendall้ชจ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "11" ; + dcterms:identifier "NANDO:2201363" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Other chondrodysplasia punctata"@en, "ใฆใ‚“ใ˜ใ‚‡ใ†ใชใ‚“ใ“ใคใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰"@ja-Hira, "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆใใฎไป–๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "็‚น็Šถ่ปŸ้ชจ็•ฐๅฝขๆˆ็—‡๏ผˆใใฎไป–๏ผ‰"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2201364" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Melorheostosis"@en, "ใ‚Šใ‚…ใ†ใ‚ใ†ใ“ใคใ—ใ‚‡ใ†"@ja-Hira, "ๆต่‹้ชจ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "ใƒกใƒญใƒฌใ‚ชใ‚นใƒˆใƒผใ‚ทใ‚น"@ja ; + skos:closeMatch obo:MONDO_0007970 ; + skos:prefLabel "ๆต่‹้ชจ็—‡"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2201365" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dysosteosclerosis"@en, "ใ„ใ“ใคใ›ใ„ใ“ใคใ“ใ†ใ‹ใ—ใ‚‡ใ†"@ja-Hira, "็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009138 ; + skos:prefLabel "็•ฐ้ชจๆ€ง้ชจ็กฌๅŒ–็—‡"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2201366" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Craniometaphyseal dysplasia"@en, "ใšใŒใ„ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "CMD"@en ; + skos:closeMatch obo:MONDO_0015465 ; + skos:prefLabel "้ ญ่“‹้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2201367" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Metaphyseal dysplasias"@en, "ใ“ใฃใ‹ใ‚“ใŸใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:altLabel "Pyle disease"@en, "Pyleๆฐ็—…"@ja, "Pyle็—…"@ja ; + skos:closeMatch obo:MONDO_0009943 ; + skos:prefLabel "้ชจๅนน็ซฏ็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2201368" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Craniodiaphyseal dysplasia"@en, "ใšใŒใ„ใ“ใฃใ‹ใ‚“ใ„ใ‘ใ„ใ›ใ„ใ—ใ‚‡ใ†"@ja-Hira, "้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡"@ja ; + rdfs:seeAlso , , ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0009031 ; + skos:prefLabel "้ ญ่“‹้ชจๅนน็•ฐๅฝขๆˆ็—‡"@ja . + + + nando:hasNotificationNumber "10" ; + dcterms:identifier "NANDO:2201369" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Sclerosteosis"@en, "ใ“ใ†ใ‹ใ›ใ„ใ“ใคใ—ใ‚‡ใ†"@ja-Hira, "็กฌๅŒ–ๆ€ง้ชจ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "SOST"@en ; + skos:closeMatch obo:MONDO_0017838 ; + skos:prefLabel "็กฌๅŒ–ๆ€ง้ชจ็—‡"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201370" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stage I huge arteriovenous malformation"@en, "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜1๏ผ‰"@ja-Hira, "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage I๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "stage I AVM"@en, "stage I gigantic arteriovenous malformation"@en ; + skos:prefLabel "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage I๏ผ‰"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201371" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stage II huge arteriovenous malformation"@en, "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜2๏ผ‰"@ja-Hira, "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage II๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "stage II AVM"@en, "stage II gigantic arteriovenous malformation"@en ; + skos:prefLabel "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage II๏ผ‰"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201372" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stage III huge arteriovenous malformation"@en, "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜3๏ผ‰"@ja-Hira, "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage III๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "stage III AVM"@en, "stage III gigantic arteriovenous malformation"@en ; + skos:prefLabel "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage III๏ผ‰"@ja . + + + nando:hasNotificationNumber "5" ; + dcterms:identifier "NANDO:2201373" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Stage IV huge arteriovenous malformation"@en, "ใใ‚‡ใ ใ„ใฉใ†ใ˜ใ‚‡ใ†ใฟใ‚ƒใใใ‘ใ„๏ผˆใ™ใฆใƒผใ˜4๏ผ‰"@ja-Hira, "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage IV๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "stage IV AVM"@en, "stage IV gigantic arteriovenous malformation"@en ; + skos:prefLabel "ๅทจๅคงๅ‹•้™่„ˆๅฅ‡ๅฝข๏ผˆStage IV๏ผ‰"@ja . + + + nando:hasNotificationNumber "20" ; + dcterms:identifier "NANDO:2201374" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Bulbar myasthenia gravis"@en, "ใใ‚…ใ†ใŒใŸใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใใ‚“ใ‚€ใ‚Šใ‚‡ใใ—ใ‚‡ใ†"@ja-Hira, "็ƒๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:altLabel "็ƒ้บป็—บๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja ; + skos:prefLabel "็ƒๅž‹้‡็—‡็ญ‹็„กๅŠ›็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201375" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Autosomal dominant epidermolysis bullosa simplex"@en, "ใ‚†ใ†ใ›ใ„ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ„ชๆ€งๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:closeMatch obo:MONDO_0017610 ; + skos:prefLabel "ๅ„ชๆ€งๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201376" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Epidermolysis bullosa simplex with muscular dystrophy"@en, "ใใ‚“ใ˜ใ™ใจใ‚ใตใƒใƒผใŒใฃใบใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "EBS MD"@en ; + skos:closeMatch obo:MONDO_0009181 ; + skos:prefLabel "็ญ‹ใ‚ธใ‚นใƒˆใƒญใƒ•ใ‚ฃใƒผๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201377" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Other epidermolysis bullosa simplex"@en, "ใŸใ‚“ใ˜ใ‚…ใ‚“ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰"@ja-Hira, "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๅ˜็ด”ๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201378" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Herlitz junctional epidermolysis bullosa"@en, "ใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Herlitz JEB"@en, "Herlitzๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja, "Herlitz่‡ดๆญปๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009182 ; + skos:prefLabel "ใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201379" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Non-Herlitz junctional epidermolysis bullosa"@en, "ใฒใธใ‚‹ใ‚ŠใฃใคใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "non-Herlitz JEB"@en, "้žHerlitzๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + skos:closeMatch obo:MONDO_0009180 ; + skos:prefLabel "้žใƒ˜ใƒซใƒชใƒƒใƒ„ๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201380" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Junctional epidermolysis bullosa with pyloric atresia"@en, "ใ‚†ใ†ใ‚‚ใ‚“ใธใ„ใ•ใŒใฃใบใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅนฝ้–€้–‰้Ž–ๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "EB-PA"@en, "PA-JEB"@en, "junctional epidermolysis bullosa with pyloric atresia"@en ; + skos:closeMatch obo:MONDO_0009183 ; + skos:prefLabel "ๅนฝ้–€้–‰้Ž–ๅˆไฝตๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201381" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Other junctional epidermolysis bullosa"@en, "ใ›ใคใ”ใ†ใถใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰"@ja-Hira, "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆŽฅๅˆ้ƒจๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201382" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Dominant dystrophic epidermolysis bullosa"@en, "ใ‚†ใ†ใ›ใ„ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:prefLabel "ๅ„ชๆ€งๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201383" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Recessive dystrophic epidermolysis bullosa, generalized severe"@en, "ใ‚Œใฃใ›ใ„ใ˜ใ‚…ใ†ใ—ใ‚‡ใ†ใฏใ‚“ใฑใคใŒใŸใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†"@ja-Hira, "ๅŠฃๆ€ง้‡็—‡ๆฑŽ็™บๅž‹ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel " Hallopeau-Siemensๅž‹RDEB"@ja, "RDEB, generalized severe"@en ; + skos:closeMatch obo:MONDO_0009179 ; + skos:prefLabel "ๅŠฃๆ€ง้‡็—‡ๆฑŽ็™บๅž‹ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡"@ja . + + + nando:hasNotificationNumber "14" ; + dcterms:identifier "NANDO:2201384" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Other dystrophic epidermolysis bullosa"@en, "ใˆใ„ใ‚ˆใ†ใ—ใ‚‡ใ†ใŒใ„ใŒใŸใฒใ‚‡ใ†ใฒใ™ใ„ใปใ†ใ—ใ‚‡ใ†๏ผˆใใฎใŸ๏ผ‰"@ja-Hira, "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja ; + rdfs:seeAlso ; + rdfs:subClassOf ; + skos:prefLabel "ๆ „้คŠ้šœๅฎณๅž‹่กจ็šฎๆฐด็–ฑ็—‡๏ผˆใใฎไป–๏ผ‰"@ja . + + + nando:hasNotificationNumber "22" ; + dcterms:description "1968ๅนดใซGallowayใจMowatใŒใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พคใ€ๅฐ้ ญ็—‡ใ€้ฃŸ้“่ฃ‚ๅญ”ใƒ˜ใƒซใƒ‹ใ‚ขใฎ3ไธปๅพดใ‚’ไผดใฃใŸๅŒ่ƒžไพ‹ใ‚’ๅ ฑๅ‘Šใ—ใ€ไปฅ้™100ๆ•ฐไพ‹ใฎใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พคใŒๅ ฑๅ‘ŠใŒใ•ใ‚Œใฆใ„ใ‚‹ใ€‚ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พคใฏใ€่…Ž็ณธ็ƒไฝ“็กฌๅŒ–็—‡๏ผˆใƒใƒ•ใƒญใƒผใ‚ผ็—‡ๅ€™็พค๏ผ‰ใ€ๅฐ้ ญ็—‡๏ผˆใฆใ‚“ใ‹ใ‚“ใ€็ฒพ็ฅž้‹ๅ‹•้…ๆปž๏ผ‰ใ‚’๏ผ’ไธปๅพดใจใ—ใ€้ก”้ขใƒปๅ››่‚ขๅฅ‡ๅฝขใ‚’ๅˆไฝตใ™ใ‚‹็—‡ๅ€™็พคใจ่€ƒใˆใ‚‰ใ‚Œใฆใ„ใ‚‹ใ€‚่ฟ‘ๅนดใ€ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พคใฏ่‡จๅบŠ็—‡็ŠถใŠใ‚ˆใณ็—…็†็ต„็น”ๅญฆ็š„ใซๅคšๆง˜ๆ€งใฎใ‚ใ‚‹็–พๆ‚ฃ็พคใงใ‚ใ‚‹ใ“ใจใŒ่ช่ญ˜ใ•ใ‚Œใ‚‹ใ‚ˆใ†ใซใชใฃใฆใใฆใŠใ‚Šใ€ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค้กžไผผใฎ็–พๆ‚ฃใ‚‚ๅ ฑๅ‘Šใ•ใ‚Œใ€้‘‘ๅˆฅใŒๅ›ฐ้›ฃใชไพ‹ใ‚‚ๆ•ฃ่ฆ‹ใ•ใ‚Œใ‚‹ใ€‚"@ja ; + dcterms:identifier "NANDO:2201385" ; + dcterms:source ; + a owl:Class ; + rdfs:label "Galloway-Mowat syndrome"@en, "ใŽใ‚ƒใ‚ใ†ใ‡ใ„ใƒปใ‚‚ใ‚ใจใ—ใ‚‡ใ†ใ“ใ†ใใ‚“"@ja-Hira, "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja ; + rdfs:seeAlso , ; + rdfs:subClassOf ; + skos:altLabel "Galloway-Mowat็—‡ๅ€™็พค"@ja ; + skos:closeMatch obo:MONDO_0009627 ; + skos:prefLabel "ใ‚ฎใƒฃใƒญใ‚ฆใ‚งใ‚คใƒปใƒขใƒฏใƒˆ็—‡ๅ€™็พค"@ja . + + + rdfs:seeAlso . + + + rdfs:seeAlso . + + + rdfs:seeAlso . + + + rdfs:seeAlso . + + + rdfs:seeAlso . + +nando:hasInheritance + dc:description "Relationship between a clinical entity and modes of inheritance. "@en ; + a owl:ObjectProperty ; + rdfs:label "has inheritance"@en, "้บไผๅฝขๅผ"@ja . + +nando:hasNotificationNumber + a owl:DatatypeProperty ; + rdfs:label "has notification number"@en, "ๅ‘Š็คบ็•ชๅท"@ja . + + + dc:creator "Atsuo Kikuchi", "Hiroshi Masuya", "Kota Ninomiya", "Orion Buske", "Ryota Yamada", "Shuichi Kawashima", "Soichi Ogishima", "Tatsuya Kushida", "Terue Takatsuki", "Toshiaki Katayama", "Toyofumi Fujiwara", "Yasunori Yamamoto" ; + dcterms:created "2021-7-23T00:00:00"^^xsd:dateTime ; + dcterms:license ; + dcterms:modified "2023-11-27T00:00:00"^^xsd:dateTime ; + a owl:Ontology ; + owl:versionIRI ; + owl:versionInfo "1.0.0" .